| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
| rs799917 |
G>A,C,T |
Benign-likely-benign, benign, uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign |
Coding sequence variant, non coding transcript variant, missense variant, intron variant |
| rs1799966 |
T>A,C |
Benign-likely-benign, likely-benign, benign, conflicting-interpretations-of-pathogenicity |
Coding sequence variant, non coding transcript variant, missense variant |
| rs1799967 |
C>T |
Benign-likely-benign, benign, conflicting-interpretations-of-pathogenicity |
Coding sequence variant, non coding transcript variant, missense variant |
| rs1800064 |
C>A,T |
Benign-likely-benign, conflicting-interpretations-of-pathogenicity, likely-benign |
Coding sequence variant, non coding transcript variant, synonymous variant, intron variant |
| rs1800747 |
C>A,G,T |
Likely-pathogenic, not-provided, pathogenic |
Splice acceptor variant |
| rs1800751 |
G>A,C |
Likely-pathogenic, pathogenic, uncertain-significance |
Coding sequence variant, non coding transcript variant, missense variant |
| rs3092995 |
G>A,C |
Benign, conflicting-interpretations-of-pathogenicity |
3 prime UTR variant, non coding transcript variant |
| rs28897672 |
A>C,G,T |
Likely-pathogenic, pathogenic |
Non coding transcript variant, missense variant, coding sequence variant |
| rs28897674 |
T>C,G |
Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance |
Non coding transcript variant, missense variant, coding sequence variant |
| rs28897675 |
A>C,G |
Conflicting-interpretations-of-pathogenicity, likely-benign, benign, uncertain-significance |
Synonymous variant, non coding transcript variant, missense variant, coding sequence variant |
| rs28897676 |
G>A,T |
Conflicting-interpretations-of-pathogenicity, benign-likely-benign, benign, uncertain-significance |
Intron variant, non coding transcript variant, missense variant, coding sequence variant |
| rs28897680 |
T>G |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Intron variant, non coding transcript variant, missense variant, coding sequence variant |
| rs28897681 |
C>A,T |
Conflicting-interpretations-of-pathogenicity, likely-benign, benign, uncertain-significance |
Intron variant, non coding transcript variant, missense variant, coding sequence variant |
| rs28897683 |
G>T |
Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign, benign, benign-likely-benign |
Intron variant, non coding transcript variant, missense variant, coding sequence variant |
| rs28897686 |
C>A,T |
Conflicting-interpretations-of-pathogenicity, likely-benign, pathogenic, benign, benign-likely-benign |
Stop gained, non coding transcript variant, coding sequence variant, intron variant, missense variant |
| rs28897687 |
A>C,G |
Conflicting-interpretations-of-pathogenicity, benign-likely-benign, likely-benign, benign |
Non coding transcript variant, coding sequence variant, intron variant, synonymous variant, missense variant |
| rs28897689 |
T>A,C |
Benign-likely-benign, pathogenic, benign |
Stop gained, non coding transcript variant, coding sequence variant, intron variant, missense variant |
| rs28897696 |
G>A,C,T |
Pathogenic, uncertain-significance |
Non coding transcript variant, missense variant, coding sequence variant |
| rs28897697 |
C>A,T |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Synonymous variant, non coding transcript variant, coding sequence variant |
| rs28897698 |
C>A,T |
Likely-pathogenic, uncertain-significance |
Non coding transcript variant, missense variant, coding sequence variant |
| rs34570933 |
TT>-,T,TTT |
Pathogenic, not-provided |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs41286294 |
G>A,C |
Conflicting-interpretations-of-pathogenicity, likely-benign, benign, uncertain-significance |
Intron variant, non coding transcript variant, missense variant, coding sequence variant |
| rs41286296 |
C>A,T |
Pathogenic, uncertain-significance |
Stop gained, non coding transcript variant, coding sequence variant, intron variant, missense variant |
| rs41286298 |
T>C |
Conflicting-interpretations-of-pathogenicity, benign-likely-benign, uncertain-significance |
Intron variant, non coding transcript variant, missense variant, coding sequence variant |
| rs41286300 |
G>A |
Likely-pathogenic, conflicting-interpretations-of-pathogenicity, benign-likely-benign, benign |
Intron variant, non coding transcript variant, missense variant, coding sequence variant |
| rs41293445 |
C>T |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Intron variant, non coding transcript variant, missense variant, coding sequence variant |
| rs41293449 |
T>C,G |
Conflicting-interpretations-of-pathogenicity, benign-likely-benign, likely-benign, benign |
Non coding transcript variant, coding sequence variant, intron variant, synonymous variant, missense variant |
| rs41293451 |
A>G |
Conflicting-interpretations-of-pathogenicity, likely-benign, benign, uncertain-significance |
Intron variant, non coding transcript variant, missense variant, coding sequence variant |
| rs41293455 |
G>A,C |
Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign, pathogenic, benign |
Stop gained, non coding transcript variant, missense variant, coding sequence variant |
| rs41293457 |
G>C |
Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance |
Non coding transcript variant, missense variant, coding sequence variant |
| rs41293459 |
C>A,G,T |
Likely-pathogenic, pathogenic-likely-pathogenic, pathogenic, uncertain-significance |
Non coding transcript variant, missense variant, coding sequence variant |
| rs41293461 |
C>A,G,T |
Likely-pathogenic, pathogenic, uncertain-significance |
Stop gained, non coding transcript variant, missense variant, coding sequence variant |
| rs41293463 |
A>C,G,T |
Pathogenic, uncertain-significance |
Non coding transcript variant, missense variant, coding sequence variant |
| rs41293465 |
G>A |
Pathogenic |
Stop gained, non coding transcript variant, coding sequence variant, 3 prime UTR variant |
| rs45444999 |
C>A,T |
Likely-pathogenic, pathogenic, uncertain-significance |
Non coding transcript variant, missense variant, coding sequence variant |
| rs45553935 |
A>C,G,T |
Likely-pathogenic, pathogenic-likely-pathogenic, pathogenic, uncertain-significance |
Non coding transcript variant, missense variant, coding sequence variant |
| rs45564238 |
T>C |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Intron variant, non coding transcript variant, missense variant, coding sequence variant |
| rs55650082 |
C>A,T |
Benign-likely-benign, likely-benign, pathogenic, benign |
Stop gained, non coding transcript variant, coding sequence variant, intron variant, missense variant |
| rs55678461 |
C>G |
Conflicting-interpretations-of-pathogenicity, benign-likely-benign, likely-benign, uncertain-significance |
Intron variant, non coding transcript variant, missense variant, coding sequence variant |
| rs55680408 |
T>A,C |
Conflicting-interpretations-of-pathogenicity, likely-benign, benign, uncertain-significance |
Non coding transcript variant, missense variant, coding sequence variant |
| rs55688530 |
G>A,T |
Conflicting-interpretations-of-pathogenicity, uncertain-significance, benign, benign-likely-benign, not-provided |
Non coding transcript variant, missense variant, coding sequence variant |
| rs55770810 |
G>A,T |
Likely-benign, pathogenic |
Synonymous variant, non coding transcript variant, missense variant, coding sequence variant |
| rs55808233 |
A>G |
Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign, benign, benign-likely-benign |
Intron variant, non coding transcript variant, missense variant, coding sequence variant |
| rs55816927 |
C>G,T |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Non coding transcript variant, missense variant, coding sequence variant |
| rs55842957 |
T>C |
Conflicting-interpretations-of-pathogenicity, benign |
Intron variant, non coding transcript variant, missense variant, coding sequence variant |
| rs55851803 |
C>G,T |
Pathogenic, uncertain-significance |
Missense variant, splice donor variant, coding sequence variant |
| rs55906931 |
A>G,T |
Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign, benign, benign-likely-benign |
Intron variant, non coding transcript variant, missense variant, coding sequence variant |
| rs55914168 |
G>A,T |
Likely-pathogenic, conflicting-interpretations-of-pathogenicity, likely-benign, benign |
Stop gained, non coding transcript variant, coding sequence variant, intron variant, missense variant |
| rs55971303 |
G>T |
Conflicting-interpretations-of-pathogenicity, benign-likely-benign, benign |
Non coding transcript variant, missense variant, coding sequence variant |
| rs55975699 |
C>A,T |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Non coding transcript variant, missense variant, coding sequence variant |
| rs56012641 |
T>G |
Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign, benign, benign-likely-benign |
Intron variant, non coding transcript variant, missense variant, coding sequence variant |
| rs56039126 |
G>A,C |
Conflicting-interpretations-of-pathogenicity, benign, uncertain-significance |
Intron variant, non coding transcript variant, missense variant, coding sequence variant |
| rs56056711 |
C>T |
Likely-benign, pathogenic, benign |
Intron variant, non coding transcript variant, missense variant, coding sequence variant |
| rs56187033 |
T>C |
Conflicting-interpretations-of-pathogenicity, benign-likely-benign, benign, uncertain-significance |
Non coding transcript variant, missense variant, coding sequence variant |
| rs56328013 |
G>A,C,T |
Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign, benign, benign-likely-benign |
Intron variant |
| rs56329598 |
T>A,C,G |
Pathogenic, uncertain-significance |
Stop gained, non coding transcript variant, coding sequence variant, intron variant, missense variant |
| rs56335406 |
G>A,T |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Non coding transcript variant, missense variant, coding sequence variant |
| rs56336919 |
C>A,G,T |
Conflicting-interpretations-of-pathogenicity, benign, uncertain-significance |
Intron variant, non coding transcript variant, missense variant, coding sequence variant |
| rs59541324 |
TTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT |
Conflicting-interpretations-of-pathogenicity, likely-benign, benign, uncertain-significance |
Non coding transcript variant, 3 prime UTR variant |
| rs62625298 |
C>A,T |
Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance |
Synonymous variant, non coding transcript variant, coding sequence variant |
| rs62625303 |
G>A,C |
Pathogenic, uncertain-significance |
Stop gained, non coding transcript variant, coding sequence variant, intron variant, missense variant |
| rs62625306 |
C>A,T |
Pathogenic-likely-pathogenic, pathogenic, uncertain-significance |
Stop gained, non coding transcript variant, coding sequence variant, intron variant, missense variant |
| rs62625307 |
G>A |
Pathogenic |
Stop gained, intron variant, non coding transcript variant, coding sequence variant |
| rs62625308 |
G>A,C |
Pathogenic, uncertain-significance |
Stop gained, non coding transcript variant, coding sequence variant, intron variant, missense variant |
| rs67284603 |
->T |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs70953659 |
T>C |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Non coding transcript variant, missense variant, coding sequence variant |
| rs70953661 |
C>A,G |
Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance |
Non coding transcript variant, missense variant, coding sequence variant |
| rs78951648 |
C>T |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Non coding transcript variant, missense variant, coding sequence variant |
| rs80187739 |
C>A,G,T |
Likely-pathogenic, pathogenic-likely-pathogenic, pathogenic |
Non coding transcript variant, missense variant, coding sequence variant |
| rs80356832 |
A>C,G |
Likely-benign, pathogenic |
Stop gained, non coding transcript variant, coding sequence variant, intron variant, synonymous variant |
| rs80356853 |
T>A,C,G |
Pathogenic, uncertain-significance |
Synonymous variant, non coding transcript variant, coding sequence variant |
| rs80356854 |
C>A,T |
Likely-pathogenic, pathogenic, uncertain-significance |
Synonymous variant, non coding transcript variant, missense variant, coding sequence variant |
| rs80356857 |
C>G,T |
Likely-pathogenic, pathogenic |
Synonymous variant, non coding transcript variant, missense variant, coding sequence variant |
| rs80356859 |
A>G |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Intron variant, non coding transcript variant, missense variant, coding sequence variant |
| rs80356860 |
C>G,T |
Pathogenic-likely-pathogenic, likely-benign, pathogenic, benign, likely-pathogenic, benign-likely-benign |
Non coding transcript variant, missense variant, coding sequence variant |
| rs80356862 |
G>C |
Pathogenic-likely-pathogenic, uncertain-significance |
Non coding transcript variant, missense variant, coding sequence variant |
| rs80356864 |
G>A,T |
Pathogenic, uncertain-significance |
Stop gained, non coding transcript variant, missense variant, coding sequence variant |
| rs80356866 |
G>A,C |
Pathogenic, uncertain-significance |
Stop gained, non coding transcript variant, coding sequence variant, intron variant, missense variant |
| rs80356868 |
C>A |
Pathogenic |
Stop gained, non coding transcript variant, missense variant, coding sequence variant |
| rs80356872 |
A>G,T |
Pathogenic, uncertain-significance |
Stop gained, non coding transcript variant, coding sequence variant, intron variant, missense variant |
| rs80356873 |
G>A,T |
Pathogenic, uncertain-significance |
Stop gained, non coding transcript variant, coding sequence variant, missense variant, 3 prime UTR variant |
| rs80356875 |
C>A,T |
Pathogenic, uncertain-significance |
Stop gained, non coding transcript variant, coding sequence variant, intron variant, missense variant |
| rs80356879 |
C>A |
Pathogenic |
Stop gained, non coding transcript variant, coding sequence variant |
| rs80356880 |
G>C,T |
Likely-pathogenic, pathogenic, uncertain-significance |
Intron variant, non coding transcript variant, missense variant, coding sequence variant |
| rs80356881 |
G>A,C,T |
Pathogenic, uncertain-significance |
Stop gained, non coding transcript variant, missense variant, coding sequence variant |
| rs80356884 |
C>A,G |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Intron variant, non coding transcript variant, missense variant, coding sequence variant |
| rs80356885 |
C>T |
Pathogenic |
Stop gained, non coding transcript variant, coding sequence variant |
| rs80356888 |
G>A,C,T |
Likely-benign, pathogenic |
Synonymous variant, stop gained, non coding transcript variant, coding sequence variant |
| rs80356889 |
G>A |
Pathogenic |
Stop gained, intron variant, non coding transcript variant, coding sequence variant |
| rs80356890 |
T>C |
Pathogenic |
Non coding transcript variant, missense variant, coding sequence variant |
| rs80356891 |
G>C,T |
Pathogenic |
Stop gained, intron variant, non coding transcript variant, coding sequence variant |
| rs80356893 |
G>A |
Pathogenic |
Stop gained, intron variant, non coding transcript variant, coding sequence variant |
| rs80356895 |
A>G |
Conflicting-interpretations-of-pathogenicity |
Intron variant, non coding transcript variant, missense variant, coding sequence variant |
| rs80356896 |
C>A,T |
Pathogenic, uncertain-significance |
Stop gained, non coding transcript variant, missense variant, coding sequence variant |
| rs80356898 |
G>A,C |
Pathogenic |
Stop gained, non coding transcript variant, coding sequence variant, intron variant, missense variant |
| rs80356903 |
G>A |
Pathogenic |
Stop gained, intron variant, non coding transcript variant, coding sequence variant |
| rs80356904 |
G>A |
Pathogenic |
Stop gained, intron variant, non coding transcript variant, coding sequence variant |
| rs80356905 |
A>C,G |
Likely-pathogenic, uncertain-significance |
Non coding transcript variant, missense variant, coding sequence variant |
| rs80356907 |
C>A,G |
Pathogenic, uncertain-significance |
Stop gained, non coding transcript variant, coding sequence variant, intron variant, missense variant |
| rs80356908 |
C>T |
Pathogenic |
Stop gained, intron variant, non coding transcript variant, coding sequence variant |
| rs80356910 |
G>A,C |
Conflicting-interpretations-of-pathogenicity, likely-benign, benign, uncertain-significance |
Intron variant, non coding transcript variant, missense variant, coding sequence variant |
| rs80356913 |
C>A,G,T |
Likely-pathogenic, pathogenic, uncertain-significance |
Intron variant, missense variant, coding sequence variant |
| rs80356914 |
C>A,G,T |
Conflicting-interpretations-of-pathogenicity, pathogenic, uncertain-significance |
Stop gained, non coding transcript variant, coding sequence variant, missense variant, 3 prime UTR variant |
| rs80356915 |
C>A,G |
Pathogenic, uncertain-significance |
Stop gained, non coding transcript variant, coding sequence variant, intron variant, missense variant |
| rs80356919 |
T>C |
Conflicting-interpretations-of-pathogenicity, likely-benign, benign, uncertain-significance |
Intron variant, non coding transcript variant, missense variant, coding sequence variant |
| rs80356923 |
C>A,T |
Benign-likely-benign, pathogenic, benign |
Stop gained, non coding transcript variant, coding sequence variant, intron variant, missense variant |
| rs80356925 |
G>C,T |
Pathogenic, not-provided |
Stop gained, intron variant, non coding transcript variant, coding sequence variant |
| rs80356928 |
T>A,C |
Conflicting-interpretations-of-pathogenicity, pathogenic, uncertain-significance |
Stop gained, non coding transcript variant, coding sequence variant, intron variant, missense variant |
| rs80356932 |
G>A |
Pathogenic |
Stop gained, non coding transcript variant, coding sequence variant |
| rs80356935 |
C>G,T |
Pathogenic, uncertain-significance |
Stop gained, non coding transcript variant, coding sequence variant, intron variant, missense variant |
| rs80356936 |
A>C,G,T |
Likely-benign, pathogenic |
Stop gained, non coding transcript variant, coding sequence variant, synonymous variant |
| rs80356937 |
C>A,T |
Pathogenic |
Stop gained, non coding transcript variant, missense variant, coding sequence variant |
| rs80356942 |
C>A,T |
Likely-benign, pathogenic, uncertain-significance |
Stop gained, non coding transcript variant, coding sequence variant, missense variant, 3 prime UTR variant |
| rs80356943 |
T>C |
Conflicting-interpretations-of-pathogenicity, benign, uncertain-significance |
Non coding transcript variant, missense variant, coding sequence variant |
| rs80356945 |
G>A,C,T |
Pathogenic, uncertain-significance |
Stop gained, non coding transcript variant, coding sequence variant, intron variant, missense variant |
| rs80356946 |
A>G |
Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance |
Intron variant, non coding transcript variant, missense variant, coding sequence variant |
| rs80356947 |
G>A |
Pathogenic |
Stop gained, non coding transcript variant, coding sequence variant |
| rs80356949 |
T>A |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Intron variant, non coding transcript variant, missense variant, coding sequence variant |
| rs80356950 |
C>A,T |
Pathogenic, uncertain-significance |
Stop gained, non coding transcript variant, coding sequence variant, intron variant, missense variant |
| rs80356951 |
C>A |
Pathogenic |
Stop gained, intron variant, non coding transcript variant, coding sequence variant |
| rs80356952 |
G>A |
Pathogenic |
Stop gained, intron variant, non coding transcript variant, coding sequence variant |
| rs80356953 |
G>C,T |
Pathogenic |
Stop gained, non coding transcript variant, coding sequence variant |
| rs80356955 |
C>T |
Conflicting-interpretations-of-pathogenicity, benign, uncertain-significance |
Intron variant, non coding transcript variant, missense variant, coding sequence variant |
| rs80356959 |
A>C,G |
Likely-pathogenic, pathogenic, uncertain-significance |
Non coding transcript variant, missense variant, coding sequence variant, 3 prime UTR variant |
| rs80356962 |
C>G,T |
Pathogenic, uncertain-significance |
Stop gained, non coding transcript variant, coding sequence variant, synonymous variant, missense variant |
| rs80356964 |
G>A,C |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Intron variant, non coding transcript variant, missense variant, coding sequence variant |
| rs80356969 |
G>A |
Pathogenic |
Stop gained, intron variant, non coding transcript variant, coding sequence variant |
| rs80356970 |
G>A,T |
Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance |
Intron variant, non coding transcript variant, missense variant, coding sequence variant |
| rs80356971 |
A>C,G,T |
Pathogenic, uncertain-significance |
Stop gained, non coding transcript variant, coding sequence variant, intron variant, missense variant |
| rs80356972 |
T>C |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Non coding transcript variant, missense variant, coding sequence variant |
| rs80356973 |
G>A |
Pathogenic |
Stop gained, intron variant, non coding transcript variant, coding sequence variant |
| rs80356974 |
A>C,G |
Likely-benign, pathogenic |
Stop gained, non coding transcript variant, coding sequence variant, synonymous variant |
| rs80356975 |
C>G,T |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Intron variant, non coding transcript variant, missense variant, coding sequence variant |
| rs80356977 |
G>C,T |
Pathogenic |
Stop gained, non coding transcript variant, coding sequence variant, 3 prime UTR variant |
| rs80356978 |
C>A,T |
Pathogenic |
Stop gained, non coding transcript variant, coding sequence variant, intron variant, missense variant |
| rs80356982 |
G>A,C |
Pathogenic, uncertain-significance |
Stop gained, non coding transcript variant, coding sequence variant, intron variant, missense variant |
| rs80356984 |
G>A |
Pathogenic |
Stop gained, intron variant, non coding transcript variant, coding sequence variant |
| rs80356986 |
G>C |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Non coding transcript variant, missense variant, coding sequence variant |
| rs80356988 |
C>G,T |
Likely-pathogenic, pathogenic-likely-pathogenic, pathogenic |
Non coding transcript variant, missense variant, coding sequence variant |
| rs80356989 |
G>A |
Pathogenic |
Stop gained, non coding transcript variant, coding sequence variant |
| rs80356991 |
C>A,G,T |
Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign, pathogenic, benign, benign-likely-benign |
Stop gained, non coding transcript variant, missense variant, coding sequence variant |
| rs80356992 |
G>A |
Pathogenic |
Stop gained, non coding transcript variant, coding sequence variant |
| rs80356993 |
A>G,T |
Likely-pathogenic, pathogenic, uncertain-significance |
Non coding transcript variant, missense variant, coding sequence variant |
| rs80356997 |
G>A,C,T |
Likely-benign, pathogenic |
Synonymous variant, stop gained, non coding transcript variant, coding sequence variant |
| rs80356999 |
G>A |
Pathogenic |
Stop gained, intron variant, non coding transcript variant, coding sequence variant |
| rs80357001 |
G>A |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Non coding transcript variant, missense variant, coding sequence variant |
| rs80357002 |
G>A,C |
Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance |
Non coding transcript variant, missense variant, coding sequence variant |
| rs80357003 |
G>A,C |
Pathogenic, uncertain-significance |
Stop gained, non coding transcript variant, coding sequence variant, intron variant, missense variant |
| rs80357004 |
C>A |
Pathogenic |
Stop gained, intron variant, non coding transcript variant, coding sequence variant |
| rs80357005 |
C>A,T |
Likely-benign, pathogenic, uncertain-significance |
Stop gained, non coding transcript variant, coding sequence variant, intron variant, missense variant |
| rs80357006 |
A>C,G,T |
Pathogenic, uncertain-significance |
Stop gained, non coding transcript variant, coding sequence variant, intron variant, missense variant |
| rs80357009 |
C>A |
Pathogenic |
Stop gained, non coding transcript variant, coding sequence variant |
| rs80357010 |
G>A |
Pathogenic |
Stop gained, intron variant, non coding transcript variant, coding sequence variant |
| rs80357011 |
G>A,T |
Pathogenic, uncertain-significance |
Stop gained, non coding transcript variant, missense variant, coding sequence variant |
| rs80357013 |
G>A |
Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance |
Non coding transcript variant, missense variant, coding sequence variant |
| rs80357018 |
C>A,T |
Pathogenic, uncertain-significance |
Stop gained, non coding transcript variant, coding sequence variant, intron variant, missense variant |
| rs80357019 |
C>G |
Likely-pathogenic, uncertain-significance |
Non coding transcript variant, missense variant, coding sequence variant, 3 prime UTR variant |
| rs80357020 |
A>G,T |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Intron variant, non coding transcript variant, missense variant, coding sequence variant |
| rs80357021 |
C>A,T |
Pathogenic, uncertain-significance |
Stop gained, non coding transcript variant, coding sequence variant, intron variant, missense variant |
| rs80357024 |
A>C,G |
Conflicting-interpretations-of-pathogenicity, benign-likely-benign, likely-benign, uncertain-significance |
Non coding transcript variant, coding sequence variant, intron variant, synonymous variant, missense variant |
| rs80357034 |
G>A,C,T |
Likely-pathogenic, conflicting-interpretations-of-pathogenicity, uncertain-significance, not-provided |
Non coding transcript variant, missense variant, coding sequence variant |
| rs80357035 |
C>A,G |
Pathogenic, uncertain-significance |
Stop gained, non coding transcript variant, coding sequence variant, intron variant, missense variant |
| rs80357036 |
C>A,G,T |
Conflicting-interpretations-of-pathogenicity, benign-likely-benign, uncertain-significance |
Intron variant, non coding transcript variant, missense variant, coding sequence variant |
| rs80357037 |
T>C |
Conflicting-interpretations-of-pathogenicity, benign, uncertain-significance |
Intron variant, non coding transcript variant, missense variant, coding sequence variant |
| rs80357038 |
G>A |
Pathogenic |
Stop gained, intron variant, non coding transcript variant, coding sequence variant |
| rs80357040 |
T>C |
Likely-pathogenic, uncertain-significance |
Synonymous variant, non coding transcript variant, missense variant, coding sequence variant |
| rs80357043 |
G>A |
Pathogenic |
Non coding transcript variant, missense variant, coding sequence variant |
| rs80357046 |
C>A,T |
Pathogenic, uncertain-significance |
Stop gained, non coding transcript variant, coding sequence variant, intron variant, missense variant |
| rs80357047 |
T>C |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Intron variant, non coding transcript variant, missense variant, coding sequence variant |
| rs80357048 |
G>A,T |
Conflicting-interpretations-of-pathogenicity, benign-likely-benign, benign, uncertain-significance |
Non coding transcript variant, missense variant, coding sequence variant |
| rs80357055 |
G>A,T |
Pathogenic, uncertain-significance |
Stop gained, non coding transcript variant, coding sequence variant, intron variant, missense variant |
| rs80357057 |
T>A,C,G |
Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign, benign, benign-likely-benign |
Intron variant, non coding transcript variant, missense variant, coding sequence variant |
| rs80357058 |
C>A |
Pathogenic |
Stop gained, intron variant, non coding transcript variant, coding sequence variant |
| rs80357061 |
A>C,G |
Pathogenic-likely-pathogenic, pathogenic, uncertain-significance |
Non coding transcript variant, missense variant, coding sequence variant |
| rs80357063 |
G>A,C,T |
Pathogenic |
Stop gained, non coding transcript variant, coding sequence variant, intron variant, missense variant |
| rs80357064 |
A>C,G |
Pathogenic, uncertain-significance |
Non coding transcript variant, missense variant, coding sequence variant |
| rs80357065 |
A>T |
Conflicting-interpretations-of-pathogenicity, pathogenic |
Intron variant, non coding transcript variant, missense variant, coding sequence variant |
| rs80357066 |
C>A,G |
Pathogenic, uncertain-significance |
Stop gained, non coding transcript variant, coding sequence variant, intron variant, missense variant |
| rs80357067 |
G>A,T |
Pathogenic, uncertain-significance |
Stop gained, non coding transcript variant, missense variant, coding sequence variant |
| rs80357068 |
G>A,C,T |
Pathogenic, not-provided, uncertain-significance |
Stop gained, non coding transcript variant, coding sequence variant, intron variant, missense variant |
| rs80357069 |
C>A,G,T |
Pathogenic, uncertain-significance |
Intron variant, non coding transcript variant, missense variant, coding sequence variant |
| rs80357070 |
C>A |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Non coding transcript variant, missense variant, coding sequence variant |
| rs80357071 |
G>A,C |
Pathogenic, uncertain-significance |
Stop gained, non coding transcript variant, missense variant, coding sequence variant |
| rs80357074 |
C>G,T |
Likely-pathogenic, uncertain-significance |
Non coding transcript variant, missense variant, coding sequence variant |
| rs80357075 |
T>A |
Conflicting-interpretations-of-pathogenicity, benign-likely-benign, likely-benign |
Non coding transcript variant, missense variant, coding sequence variant |
| rs80357078 |
C>A,G,T |
Likely-pathogenic, conflicting-interpretations-of-pathogenicity, uncertain-significance |
Intron variant, non coding transcript variant, missense variant, coding sequence variant |
| rs80357079 |
T>A,C |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Non coding transcript variant, missense variant, coding sequence variant |
| rs80357082 |
T>A |
Pathogenic |
Stop gained, intron variant, non coding transcript variant, coding sequence variant |
| rs80357083 |
C>A,T |
Pathogenic |
Stop gained, non coding transcript variant, coding sequence variant, intron variant, missense variant |
| rs80357084 |
G>A,T |
Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance |
Non coding transcript variant, missense variant, coding sequence variant |
| rs80357086 |
A>G,T |
Pathogenic, not-provided |
Stop gained, non coding transcript variant, missense variant, coding sequence variant |
| rs80357087 |
C>A,T |
Conflicting-interpretations-of-pathogenicity, likely-benign, benign, uncertain-significance |
Non coding transcript variant, missense variant, coding sequence variant |
| rs80357088 |
C>A |
Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance |
Non coding transcript variant, missense variant, coding sequence variant |
| rs80357089 |
G>A,C |
Pathogenic, uncertain-significance |
Stop gained, non coding transcript variant, coding sequence variant, intron variant, missense variant |
| rs80357093 |
C>T |
Pathogenic-likely-pathogenic, pathogenic |
Non coding transcript variant, missense variant, coding sequence variant |
| rs80357094 |
G>C,T |
Pathogenic, uncertain-significance |
Non coding transcript variant, missense variant, coding sequence variant |
| rs80357095 |
T>C |
Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance |
Non coding transcript variant, missense variant, coding sequence variant |
| rs80357104 |
G>A,T |
Likely-pathogenic, pathogenic-likely-pathogenic, uncertain-significance |
Non coding transcript variant, missense variant, coding sequence variant |
| rs80357106 |
C>A |
Pathogenic |
Stop gained, intron variant, non coding transcript variant, coding sequence variant |
| rs80357107 |
A>C,T |
Likely-pathogenic, pathogenic |
Non coding transcript variant, missense variant, coding sequence variant, 3 prime UTR variant |
| rs80357108 |
T>A,C |
Conflicting-interpretations-of-pathogenicity, likely-benign, benign, uncertain-significance |
Intron variant, non coding transcript variant, missense variant, coding sequence variant |
| rs80357112 |
C>A,G,T |
Likely-pathogenic, uncertain-significance, pathogenic, not-provided |
Non coding transcript variant, missense variant, coding sequence variant |
| rs80357115 |
A>C,T |
Pathogenic |
Stop gained, intron variant, non coding transcript variant, coding sequence variant |
| rs80357118 |
A>C,T |
Pathogenic |
Stop gained, intron variant, non coding transcript variant, coding sequence variant |
| rs80357123 |
G>A,C,T |
Likely-benign, pathogenic, uncertain-significance |
Stop gained, non coding transcript variant, coding sequence variant, synonymous variant, missense variant |
| rs80357127 |
T>A |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Intron variant, non coding transcript variant, missense variant, coding sequence variant |
| rs80357130 |
G>A,C,T |
Pathogenic, uncertain-significance |
Stop gained, non coding transcript variant, missense variant, coding sequence variant |
| rs80357131 |
G>A,T |
Pathogenic, uncertain-significance |
Stop gained, non coding transcript variant, coding sequence variant, intron variant, missense variant |
| rs80357132 |
A>G |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Non coding transcript variant, missense variant, coding sequence variant |
| rs80357133 |
G>A |
Pathogenic |
Stop gained, non coding transcript variant, coding sequence variant |
| rs80357136 |
G>A,C |
Pathogenic, uncertain-significance |
Stop gained, non coding transcript variant, coding sequence variant, intron variant, missense variant |
| rs80357138 |
C>T |
Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance |
Non coding transcript variant, missense variant, coding sequence variant |
| rs80357139 |
C>A |
Pathogenic |
Stop gained, intron variant, non coding transcript variant, coding sequence variant |
| rs80357144 |
C>T |
Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance |
Intron variant, non coding transcript variant, missense variant, coding sequence variant |
| rs80357145 |
A>T |
Pathogenic |
Stop gained, intron variant, non coding transcript variant, coding sequence variant |
| rs80357147 |
T>A,C |
Conflicting-interpretations-of-pathogenicity, pathogenic, uncertain-significance |
Stop gained, non coding transcript variant, coding sequence variant, intron variant, missense variant |
| rs80357148 |
C>A,T |
Pathogenic, uncertain-significance |
Stop gained, non coding transcript variant, missense variant, coding sequence variant |
| rs80357149 |
C>A,G |
Likely-pathogenic, uncertain-significance |
Synonymous variant, non coding transcript variant, missense variant, coding sequence variant |
| rs80357150 |
C>A,T |
Likely-pathogenic, pathogenic-likely-pathogenic, pathogenic |
Non coding transcript variant, 5 prime UTR variant, missense variant, coding sequence variant |
| rs80357151 |
G>C |
Pathogenic |
Stop gained, non coding transcript variant, coding sequence variant |
| rs80357161 |
C>A |
Pathogenic |
Stop gained, intron variant, non coding transcript variant, coding sequence variant |
| rs80357162 |
A>C |
Pathogenic |
Stop gained, intron variant, non coding transcript variant, coding sequence variant |
| rs80357163 |
T>C,G |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Intron variant, non coding transcript variant, missense variant, coding sequence variant |
| rs80357164 |
A>C,G,T |
Likely-pathogenic, pathogenic-likely-pathogenic, pathogenic, uncertain-significance |
Intron variant, non coding transcript variant, missense variant, coding sequence variant |
| rs80357167 |
C>A,T |
Pathogenic, uncertain-significance |
Stop gained, non coding transcript variant, coding sequence variant, intron variant, missense variant |
| rs80357168 |
G>C |
Pathogenic |
Stop gained, intron variant, non coding transcript variant, coding sequence variant |
| rs80357169 |
C>A,G,T |
Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance |
Non coding transcript variant, missense variant, coding sequence variant |
| rs80357170 |
T>A,G |
Pathogenic, uncertain-significance |
Stop gained, non coding transcript variant, coding sequence variant, intron variant, missense variant |
| rs80357171 |
T>A,C |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Non coding transcript variant, missense variant, coding sequence variant |
| rs80357173 |
T>C |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Intron variant, non coding transcript variant, missense variant, coding sequence variant |
| rs80357175 |
C>G,T |
Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance |
Intron variant, non coding transcript variant, missense variant, coding sequence variant |
| rs80357178 |
C>A,T |
Pathogenic, uncertain-significance |
Stop gained, non coding transcript variant, coding sequence variant, intron variant, missense variant |
| rs80357180 |
G>A,C |
Benign-likely-benign, pathogenic, benign, not-provided |
Stop gained, non coding transcript variant, missense variant, coding sequence variant |
| rs80357184 |
T>G |
Likely-pathogenic, likely-benign, uncertain-significance |
Intron variant, non coding transcript variant, missense variant, coding sequence variant |
| rs80357186 |
C>A,T |
Pathogenic, uncertain-significance |
Stop gained, non coding transcript variant, coding sequence variant, intron variant, missense variant |
| rs80357190 |
G>C |
Conflicting-interpretations-of-pathogenicity, benign, uncertain-significance |
Non coding transcript variant, missense variant, coding sequence variant |
| rs80357201 |
G>A |
Conflicting-interpretations-of-pathogenicity, benign-likely-benign, benign |
Intron variant, non coding transcript variant, missense variant, coding sequence variant |
| rs80357202 |
C>A,G,T |
Pathogenic, uncertain-significance |
Stop gained, non coding transcript variant, coding sequence variant, intron variant, missense variant |
| rs80357204 |
T>A,C |
Pathogenic, uncertain-significance |
Stop gained, non coding transcript variant, missense variant, coding sequence variant |
| rs80357207 |
T>A,C |
Pathogenic, uncertain-significance |
Stop gained, non coding transcript variant, missense variant, coding sequence variant |
| rs80357208 |
G>A |
Pathogenic |
Stop gained, intron variant, non coding transcript variant, coding sequence variant |
| rs80357211 |
G>A |
Pathogenic |
Stop gained, intron variant, non coding transcript variant, coding sequence variant |
| rs80357212 |
C>T |
Pathogenic |
Non coding transcript variant, missense variant, coding sequence variant |
| rs80357215 |
G>A |
Pathogenic |
Stop gained, intron variant, non coding transcript variant, coding sequence variant |
| rs80357216 |
A>G,T |
Likely-pathogenic, uncertain-significance |
Synonymous variant, non coding transcript variant, missense variant, coding sequence variant |
| rs80357217 |
T>A |
Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance |
Intron variant, non coding transcript variant, missense variant, coding sequence variant |
| rs80357219 |
C>T |
Pathogenic |
Stop gained, intron variant, non coding transcript variant, coding sequence variant |
| rs80357220 |
T>A,C |
Pathogenic, uncertain-significance |
Stop gained, non coding transcript variant, coding sequence variant, intron variant, missense variant |
| rs80357222 |
T>A,G |
Likely-pathogenic, pathogenic, uncertain-significance |
Non coding transcript variant, missense variant, coding sequence variant |
| rs80357223 |
G>A |
Pathogenic |
Stop gained, intron variant, non coding transcript variant, coding sequence variant |
| rs80357227 |
T>A,C |
Likely-pathogenic, pathogenic, uncertain-significance |
Non coding transcript variant, missense variant, coding sequence variant |
| rs80357228 |
C>A |
Conflicting-interpretations-of-pathogenicity, benign, uncertain-significance |
Intron variant, non coding transcript variant, missense variant, coding sequence variant |
| rs80357229 |
G>A |
Pathogenic |
Stop gained, non coding transcript variant, coding sequence variant |
| rs80357233 |
G>C,T |
Pathogenic |
Stop gained, intron variant, non coding transcript variant, coding sequence variant |
| rs80357234 |
G>A,T |
Pathogenic, uncertain-significance |
Stop gained, non coding transcript variant, missense variant, coding sequence variant |
| rs80357239 |
C>A,T |
Likely-pathogenic, pathogenic |
Stop gained, non coding transcript variant, missense variant, coding sequence variant |
| rs80357243 |
A>C,G |
Likely-pathogenic, uncertain-significance |
Non coding transcript variant, missense variant, coding sequence variant |
| rs80357244 |
C>A,G,T |
Conflicting-interpretations-of-pathogenicity, benign-likely-benign, likely-benign, uncertain-significance |
Intron variant, non coding transcript variant, missense variant, coding sequence variant |
| rs80357248 |
C>A |
Pathogenic |
Stop gained, non coding transcript variant, coding sequence variant |
| rs80357250 |
G>A |
Conflicting-interpretations-of-pathogenicity, likely-benign, benign, uncertain-significance |
Intron variant, non coding transcript variant, missense variant, coding sequence variant |
| rs80357251 |
C>A,T |
Likely-pathogenic, pathogenic, uncertain-significance |
Stop gained, non coding transcript variant, coding sequence variant, intron variant, missense variant |
| rs80357252 |
C>G,T |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Intron variant, non coding transcript variant, missense variant, coding sequence variant |
| rs80357253 |
T>A,C |
Conflicting-interpretations-of-pathogenicity, benign-likely-benign, likely-benign, pathogenic |
Stop gained, non coding transcript variant, coding sequence variant, intron variant, missense variant |
| rs80357254 |
T>A,C |
Pathogenic, uncertain-significance |
Stop gained, non coding transcript variant, coding sequence variant, intron variant, missense variant |
| rs80357257 |
G>A,C,T |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Intron variant, non coding transcript variant, missense variant, coding sequence variant |
| rs80357258 |
T>C |
Likely-pathogenic, uncertain-significance |
Non coding transcript variant, missense variant, coding sequence variant, 3 prime UTR variant |
| rs80357259 |
C>A |
Pathogenic |
Stop gained, non coding transcript variant, coding sequence variant |
| rs80357260 |
G>A |
Pathogenic |
Stop gained, non coding transcript variant, coding sequence variant |
| rs80357262 |
G>A,C |
Pathogenic |
Stop gained, non coding transcript variant, coding sequence variant, intron variant, missense variant |
| rs80357264 |
C>T |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Non coding transcript variant, missense variant, coding sequence variant |
| rs80357267 |
A>T |
Pathogenic |
Stop gained, intron variant, non coding transcript variant, coding sequence variant |
| rs80357268 |
C>T |
Likely-pathogenic |
Non coding transcript variant, missense variant, coding sequence variant, 3 prime UTR variant |
| rs80357269 |
G>A,T |
Pathogenic, uncertain-significance |
Stop gained, non coding transcript variant, coding sequence variant, intron variant, missense variant |
| rs80357272 |
G>A |
Conflicting-interpretations-of-pathogenicity, likely-benign, benign, uncertain-significance |
Intron variant, non coding transcript variant, missense variant, coding sequence variant |
| rs80357273 |
C>T |
Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance |
Intron variant, non coding transcript variant, missense variant, coding sequence variant |
| rs80357276 |
T>A,C |
Likely-pathogenic, pathogenic-likely-pathogenic, pathogenic, uncertain-significance |
Intron variant, non coding transcript variant, missense variant, coding sequence variant |
| rs80357277 |
C>A,G |
Pathogenic, uncertain-significance |
Stop gained, non coding transcript variant, missense variant, coding sequence variant |
| rs80357278 |
C>A |
Pathogenic |
Stop gained, intron variant, non coding transcript variant, coding sequence variant |
| rs80357279 |
T>A,G |
Pathogenic |
Stop gained, non coding transcript variant, coding sequence variant, intron variant, missense variant |
| rs80357280 |
T>C |
Conflicting-interpretations-of-pathogenicity, likely-benign, benign, uncertain-significance |
Intron variant, non coding transcript variant, missense variant, coding sequence variant |
| rs80357281 |
A>G |
Likely-pathogenic, pathogenic |
Non coding transcript variant, missense variant, coding sequence variant |
| rs80357282 |
T>A,G |
Pathogenic |
Stop gained, non coding transcript variant, coding sequence variant, intron variant, missense variant |
| rs80357284 |
C>T |
Pathogenic |
Stop gained, intron variant, non coding transcript variant, coding sequence variant |
| rs80357286 |
T>C |
Conflicting-interpretations-of-pathogenicity, benign-likely-benign, likely-benign, benign |
Synonymous variant, non coding transcript variant, missense variant, coding sequence variant |
| rs80357291 |
C>A |
Pathogenic |
Stop gained, non coding transcript variant, coding sequence variant |
| rs80357292 |
C>T |
Pathogenic |
Stop gained, intron variant, non coding transcript variant, coding sequence variant |
| rs80357295 |
G>C,T |
Pathogenic |
Stop gained, intron variant, non coding transcript variant, coding sequence variant |
| rs80357296 |
G>A |
Pathogenic |
Stop gained, intron variant, non coding transcript variant, coding sequence variant |
| rs80357297 |
A>G |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Intron variant, non coding transcript variant, missense variant, coding sequence variant |
| rs80357298 |
A>C |
Pathogenic |
Stop gained, intron variant, non coding transcript variant, coding sequence variant |
| rs80357299 |
T>C,G |
Likely-pathogenic, uncertain-significance |
Non coding transcript variant, missense variant, coding sequence variant, 3 prime UTR variant |
| rs80357302 |
G>T |
Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance |
Non coding transcript variant, missense variant, coding sequence variant |
| rs80357303 |
T>A,G |
Pathogenic, uncertain-significance |
Stop gained, non coding transcript variant, missense variant, coding sequence variant |
| rs80357304 |
C>A,T |
Pathogenic, uncertain-significance |
Stop gained, non coding transcript variant, coding sequence variant, intron variant, missense variant |
| rs80357305 |
G>A,C |
Pathogenic, uncertain-significance |
Stop gained, non coding transcript variant, missense variant, coding sequence variant |
| rs80357307 |
C>T |
Pathogenic |
Stop gained, non coding transcript variant, coding sequence variant, 3 prime UTR variant |
| rs80357309 |
C>A,G |
Likely-benign, pathogenic, benign |
Stop gained, non coding transcript variant, missense variant, coding sequence variant |
| rs80357310 |
C>A,G |
Pathogenic |
Stop gained, non coding transcript variant, coding sequence variant, intron variant, missense variant |
| rs80357311 |
T>C |
Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance |
Intron variant, non coding transcript variant, missense variant, coding sequence variant |
| rs80357317 |
A>G,T |
Pathogenic, uncertain-significance |
Stop gained, non coding transcript variant, coding sequence variant, intron variant, synonymous variant |
| rs80357318 |
G>A |
Pathogenic |
Stop gained, intron variant, non coding transcript variant, coding sequence variant |
| rs80357321 |
A>C |
Pathogenic |
Stop gained, non coding transcript variant, coding sequence variant |
| rs80357327 |
A>C,G,T |
Pathogenic, not-provided |
Intron variant, non coding transcript variant, missense variant, coding sequence variant |
| rs80357328 |
C>A,G |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Intron variant, non coding transcript variant, missense variant, coding sequence variant |
| rs80357331 |
A>T |
Pathogenic |
Stop gained, intron variant, non coding transcript variant, coding sequence variant |
| rs80357336 |
G>C,T |
Pathogenic, not-provided |
Stop gained, non coding transcript variant, coding sequence variant, 3 prime UTR variant |
| rs80357338 |
C>A |
Pathogenic |
Stop gained, intron variant, non coding transcript variant, coding sequence variant |
| rs80357343 |
T>A,C,G |
Likely-pathogenic, pathogenic, uncertain-significance |
Stop gained, non coding transcript variant, coding sequence variant, intron variant, missense variant |
| rs80357345 |
G>A,C |
Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign, benign, benign-likely-benign |
Intron variant, non coding transcript variant, missense variant, coding sequence variant |
| rs80357346 |
A>C |
Pathogenic |
Stop gained, intron variant, non coding transcript variant, coding sequence variant |
| rs80357347 |
T>A,G |
Pathogenic, uncertain-significance |
Stop gained, non coding transcript variant, missense variant, coding sequence variant |
| rs80357349 |
C>A |
Pathogenic |
Stop gained, non coding transcript variant, coding sequence variant |
| rs80357350 |
G>A,C |
Pathogenic, uncertain-significance |
Stop gained, non coding transcript variant, missense variant, coding sequence variant |
| rs80357352 |
G>A,C |
Pathogenic, uncertain-significance |
Stop gained, non coding transcript variant, missense variant, coding sequence variant |
| rs80357355 |
T>A,C,G |
Uncertain-significance, pathogenic, not-provided |
Stop gained, non coding transcript variant, coding sequence variant, intron variant, missense variant |
| rs80357356 |
C>A |
Pathogenic |
Stop gained, intron variant, non coding transcript variant, coding sequence variant |
| rs80357357 |
C>A,T |
Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance |
Non coding transcript variant, missense variant, coding sequence variant |
| rs80357361 |
C>A,T |
Conflicting-interpretations-of-pathogenicity, likely-benign, benign, uncertain-significance |
Intron variant, non coding transcript variant, missense variant, coding sequence variant |
| rs80357366 |
C>A,T |
Pathogenic, uncertain-significance |
Stop gained, non coding transcript variant, missense variant, coding sequence variant |
| rs80357367 |
G>A |
Pathogenic |
Stop gained, non coding transcript variant, coding sequence variant |
| rs80357369 |
G>A |
Pathogenic |
Stop gained, intron variant, non coding transcript variant, coding sequence variant |
| rs80357370 |
A>C,G,T |
Likely-pathogenic, pathogenic, uncertain-significance |
Non coding transcript variant, 5 prime UTR variant, missense variant, coding sequence variant |
| rs80357372 |
G>A |
Pathogenic |
Stop gained, non coding transcript variant, coding sequence variant |
| rs80357373 |
C>G |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Non coding transcript variant, missense variant, coding sequence variant |
| rs80357377 |
G>A |
Pathogenic |
Stop gained, intron variant, non coding transcript variant, coding sequence variant |
| rs80357381 |
A>C,G,T |
Pathogenic, uncertain-significance |
Stop gained, non coding transcript variant, coding sequence variant, intron variant, synonymous variant, missense variant |
| rs80357382 |
T>C |
Pathogenic |
Intron variant, missense variant, coding sequence variant |
| rs80357385 |
T>A |
Pathogenic |
Stop gained, intron variant, non coding transcript variant, coding sequence variant |
| rs80357389 |
C>A,G,T |
Pathogenic-likely-pathogenic, pathogenic |
Non coding transcript variant, missense variant, coding sequence variant |
| rs80357390 |
G>A |
Likely-pathogenic, pathogenic-likely-pathogenic |
Non coding transcript variant, missense variant, coding sequence variant |
| rs80357391 |
C>A,G |
Pathogenic, uncertain-significance |
Stop gained, non coding transcript variant, coding sequence variant, intron variant, missense variant |
| rs80357392 |
G>C,T |
Pathogenic |
Stop gained, intron variant, non coding transcript variant, coding sequence variant |
| rs80357394 |
C>G,T |
Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance |
Synonymous variant, non coding transcript variant, missense variant, coding sequence variant |
| rs80357396 |
T>A,C |
Conflicting-interpretations-of-pathogenicity, benign, uncertain-significance |
Non coding transcript variant, missense variant, coding sequence variant |
| rs80357397 |
C>A,T |
Pathogenic, uncertain-significance |
Stop gained, non coding transcript variant, missense variant, coding sequence variant |
| rs80357401 |
C>A,T |
Pathogenic, uncertain-significance |
Stop gained, non coding transcript variant, missense variant, coding sequence variant |
| rs80357402 |
G>A |
Pathogenic |
Stop gained, intron variant, non coding transcript variant, coding sequence variant |
| rs80357405 |
G>C |
Pathogenic |
Stop gained, intron variant, non coding transcript variant, coding sequence variant |
| rs80357407 |
C>T |
Conflicting-interpretations-of-pathogenicity, likely-benign, benign |
Intron variant, non coding transcript variant, missense variant, coding sequence variant |
| rs80357413 |
G>T |
Conflicting-interpretations-of-pathogenicity, benign-likely-benign, benign |
Non coding transcript variant, missense variant, coding sequence variant |
| rs80357417 |
A>C |
Pathogenic |
Stop gained, intron variant, non coding transcript variant, coding sequence variant |
| rs80357418 |
C>T |
Pathogenic |
Stop gained, non coding transcript variant, coding sequence variant |
| rs80357419 |
C>A,G,T |
Pathogenic, uncertain-significance |
Stop gained, non coding transcript variant, coding sequence variant, intron variant, missense variant |
| rs80357421 |
A>C,G |
Likely-benign, pathogenic |
Stop gained, non coding transcript variant, coding sequence variant, intron variant, synonymous variant |
| rs80357424 |
C>A,G |
Pathogenic, uncertain-significance |
Stop gained, non coding transcript variant, coding sequence variant, intron variant, missense variant |
| rs80357425 |
C>T |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Intron variant, non coding transcript variant, missense variant, coding sequence variant |
| rs80357426 |
C>A |
Pathogenic |
Stop gained, intron variant, non coding transcript variant, coding sequence variant |
| rs80357427 |
G>C,T |
Pathogenic |
Stop gained, intron variant, non coding transcript variant, coding sequence variant |
| rs80357429 |
G>A,T |
Pathogenic, uncertain-significance |
Stop gained, non coding transcript variant, missense variant, coding sequence variant |
| rs80357432 |
C>A,G,T |
Pathogenic, uncertain-significance |
Stop gained, non coding transcript variant, missense variant, coding sequence variant |
| rs80357433 |
G>A,C |
Likely-benign, pathogenic |
Synonymous variant, stop gained, non coding transcript variant, coding sequence variant |
| rs80357436 |
G>C,T |
Conflicting-interpretations-of-pathogenicity, benign, uncertain-significance |
Intron variant, non coding transcript variant, missense variant, coding sequence variant |
| rs80357437 |
G>C,T |
Pathogenic |
Stop gained, non coding transcript variant, coding sequence variant |
| rs80357440 |
G>A,C,T |
Pathogenic, uncertain-significance |
Stop gained, non coding transcript variant, coding sequence variant, intron variant, missense variant |
| rs80357442 |
C>A,G,T |
Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign, benign, likely-pathogenic, benign-likely-benign |
Non coding transcript variant, missense variant, coding sequence variant |
| rs80357443 |
C>A |
Pathogenic |
Stop gained, intron variant, non coding transcript variant, coding sequence variant |
| rs80357444 |
A>C,T |
Pathogenic |
Stop gained, intron variant, non coding transcript variant, coding sequence variant |
| rs80357446 |
C>A,T |
Pathogenic |
Intron variant, non coding transcript variant, missense variant, coding sequence variant |
| rs80357449 |
C>A |
Pathogenic |
Stop gained, intron variant, non coding transcript variant, coding sequence variant |
| rs80357450 |
C>T |
Pathogenic-likely-pathogenic, pathogenic |
Non coding transcript variant, missense variant, coding sequence variant |
| rs80357455 |
T>A,C |
Pathogenic, uncertain-significance |
Stop gained, non coding transcript variant, coding sequence variant, intron variant, missense variant |
| rs80357456 |
G>A,C,T |
Pathogenic, uncertain-significance |
Stop gained, non coding transcript variant, coding sequence variant, intron variant, missense variant |
| rs80357458 |
A>T |
Pathogenic |
Stop gained, intron variant, non coding transcript variant, coding sequence variant |
| rs80357461 |
C>A,T |
Pathogenic, uncertain-significance |
Stop gained, non coding transcript variant, coding sequence variant, intron variant, missense variant |
| rs80357462 |
G>A,C |
Pathogenic, uncertain-significance |
Non coding transcript variant, missense variant, coding sequence variant |
| rs80357463 |
A>C,T |
Likely-pathogenic, pathogenic |
Non coding transcript variant, missense variant, coding sequence variant |
| rs80357465 |
T>C |
Conflicting-interpretations-of-pathogenicity, likely-benign, benign, uncertain-significance |
Non coding transcript variant, missense variant, coding sequence variant |
| rs80357467 |
A>G |
Conflicting-interpretations-of-pathogenicity, benign-likely-benign, benign, uncertain-significance |
Intron variant, non coding transcript variant, missense variant, coding sequence variant |
| rs80357468 |
C>T |
Pathogenic |
Stop gained, intron variant, non coding transcript variant, coding sequence variant |
| rs80357471 |
G>A |
Pathogenic |
Stop gained, non coding transcript variant, coding sequence variant |
| rs80357472 |
C>A,T |
Pathogenic, uncertain-significance |
Stop gained, non coding transcript variant, coding sequence variant, intron variant, missense variant |
| rs80357474 |
A>C,G,T |
Likely-pathogenic, conflicting-interpretations-of-pathogenicity, pathogenic, uncertain-significance |
Intron variant, non coding transcript variant, missense variant, coding sequence variant |
| rs80357477 |
T>C |
Conflicting-interpretations-of-pathogenicity, pathogenic-likely-pathogenic, pathogenic |
Synonymous variant, non coding transcript variant, missense variant, coding sequence variant |
| rs80357480 |
G>A |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Intron variant, non coding transcript variant, missense variant, coding sequence variant |
| rs80357481 |
G>C,T |
Pathogenic |
Stop gained, intron variant, non coding transcript variant, coding sequence variant |
| rs80357485 |
G>A,T |
Pathogenic, uncertain-significance |
Stop gained, non coding transcript variant, coding sequence variant, intron variant, missense variant |
| rs80357486 |
T>C |
Conflicting-interpretations-of-pathogenicity, benign, uncertain-significance |
Non coding transcript variant, missense variant, coding sequence variant |
| rs80357490 |
A>C,G |
Likely-benign, pathogenic |
Stop gained, non coding transcript variant, coding sequence variant, intron variant, missense variant |
| rs80357493 |
C>G |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Intron variant, non coding transcript variant, missense variant, coding sequence variant |
| rs80357496 |
T>A |
Pathogenic |
Stop gained, non coding transcript variant, coding sequence variant |
| rs80357497 |
G>A |
Pathogenic |
Stop gained, intron variant, non coding transcript variant, coding sequence variant |
| rs80357498 |
C>A,T |
Likely-pathogenic, pathogenic, uncertain-significance |
Intron variant, non coding transcript variant, missense variant, coding sequence variant |
| rs80357501 |
T>A,C |
Conflicting-interpretations-of-pathogenicity, likely-benign, pathogenic, benign |
Stop gained, non coding transcript variant, missense variant, coding sequence variant |
| rs80357502 |
A>- |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357503 |
->C |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357504 |
T>- |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357505 |
->T |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357506 |
T>- |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357507 |
CTTCT>- |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357508 |
GATT>- |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357509 |
T>- |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357510 |
AG>- |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357511 |
->C |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357512 |
T>-,TT |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357513 |
GCA>- |
Pathogenic |
Stop gained, non coding transcript variant, coding sequence variant, intron variant, inframe indel |
| rs80357514 |
->T |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357515 |
AG>- |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357516 |
->ACTA |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357517 |
->T |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357518 |
TTTA>- |
Pathogenic |
Stop gained, intron variant, non coding transcript variant, coding sequence variant |
| rs80357519 |
->A |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357520 |
TA>- |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357521 |
->T |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357522 |
TTTT>-,TT,TTT,TTTTT |
Conflicting-interpretations-of-pathogenicity, pathogenic-likely-pathogenic, pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357523 |
G>- |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357524 |
G>-,GG |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357525 |
CT>- |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357526 |
CTTT>- |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357527 |
G>- |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357528 |
A>-,AA |
Pathogenic-likely-pathogenic, pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357529 |
CA>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357531 |
->T |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357532 |
CTCT>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357533 |
G>- |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357534 |
TG>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357535 |
C>- |
Pathogenic |
Stop gained, intron variant, non coding transcript variant, coding sequence variant |
| rs80357537 |
TT>-,T,TTT |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357538 |
GTCA>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357540 |
GA>- |
Pathogenic |
Stop gained, intron variant, non coding transcript variant, coding sequence variant |
| rs80357541 |
->T |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357542 |
GA>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357543 |
->CA |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357544 |
A>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357545 |
A>- |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357546 |
TT>- |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357547 |
->CTCAT |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357548 |
->A |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357549 |
T>-,TT,TTT |
Likely-pathogenic, pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357550 |
->CT |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357551 |
G>- |
Pathogenic |
Stop gained, non coding transcript variant, coding sequence variant |
| rs80357552 |
GTATATTG>- |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357553 |
T>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357554 |
G>- |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357555 |
TGTTG>- |
Pathogenic |
Stop gained, intron variant, non coding transcript variant, coding sequence variant |
| rs80357556 |
->G |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357557 |
->TA |
Pathogenic |
Stop gained, intron variant, non coding transcript variant, coding sequence variant |
| rs80357558 |
G>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357559 |
T>- |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357560 |
ATTTT>- |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357561 |
TAAG>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357562 |
->AA |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357564 |
A>- |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357565 |
AG>-,AGAG |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357566 |
->C |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357567 |
GACT>- |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357568 |
AC>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357569 |
T>-,TT |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357570 |
AT>- |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357571 |
A>-,AA |
Pathogenic, not-provided |
Stop gained, non coding transcript variant, coding sequence variant, intron variant, frameshift variant |
| rs80357572 |
CT>-,CTCT |
Pathogenic |
Stop gained, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357573 |
C>- |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357574 |
A>-,AA,AAA |
Pathogenic |
Stop gained, non coding transcript variant, coding sequence variant, intron variant, frameshift variant |
| rs80357575 |
TTTTT>-,T,TT,TTTT,TTTTTT,TTTTTTT |
Conflicting-interpretations-of-pathogenicity, pathogenic, uncertain-significance |
Non coding transcript variant, coding sequence variant, inframe deletion, intron variant, frameshift variant |
| rs80357576 |
->T |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357577 |
AA>- |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357578 |
T>- |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357579 |
CT>- |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357580 |
GTTA>-,GTTAGTTA |
Pathogenic |
Stop gained, non coding transcript variant, coding sequence variant, frameshift variant, inframe insertion |
| rs80357581 |
C>-,CC |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357582 |
G>- |
Pathogenic |
Non coding transcript variant, frameshift variant, coding sequence variant, 3 prime UTR variant |
| rs80357583 |
C>- |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357584 |
TG>- |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357585 |
CTTT>- |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357587 |
T>- |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357589 |
CT>- |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357590 |
G>- |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357591 |
T>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357592 |
G>-,GG |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357594 |
A>- |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357595 |
->TA |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357596 |
CTTT>- |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357597 |
->C |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357598 |
T>-,TT |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357599 |
->T |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357600 |
TT>-,T,TTT |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357601 |
T>- |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357602 |
CA>- |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357603 |
->ACTG |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357604 |
TT>-,T,TTT |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357605 |
GATT>- |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357607 |
G>- |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357608 |
CA>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357609 |
TTTAC>- |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357610 |
GT>- |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357611 |
AA>-,AAA |
Pathogenic, not-provided |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357612 |
G>- |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357613 |
AGGAGTC>- |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357614 |
T>-,TT |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357615 |
->C |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357616 |
C>-,CC |
Pathogenic |
Stop gained, non coding transcript variant, coding sequence variant, intron variant, frameshift variant |
| rs80357617 |
AA>- |
Pathogenic |
Stop gained, intron variant, non coding transcript variant, coding sequence variant |
| rs80357619 |
T>- |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357620 |
->T |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357621 |
A>-,AA |
Pathogenic |
Stop gained, non coding transcript variant, coding sequence variant, intron variant, frameshift variant |
| rs80357622 |
A>- |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357623 |
ATTAG>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357624 |
->CT |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357625 |
->TC |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357626 |
T>- |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357627 |
AA>-,A,AAA |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357628 |
C>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357629 |
->T |
Pathogenic |
Stop gained, non coding transcript variant, coding sequence variant, 3 prime UTR variant |
| rs80357630 |
A>- |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357631 |
T>- |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357632 |
ATTT>- |
Pathogenic |
Stop gained, intron variant, non coding transcript variant, coding sequence variant |
| rs80357634 |
AA>AAA,TCC |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357635 |
CT>- |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357636 |
TT>-,T,TTT |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357637 |
A>- |
Pathogenic |
Initiator codon variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357638 |
C>- |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357639 |
G>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357640 |
CTATT>- |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357641 |
CT>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357644 |
CT>- |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357645 |
CT>- |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357646 |
CT>- |
Pathogenic |
Stop gained, intron variant, non coding transcript variant, coding sequence variant |
| rs80357647 |
TAATGTTATTA>- |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357648 |
T>- |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357649 |
GT>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357650 |
G>-,GG |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357652 |
T>- |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357653 |
C>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357654 |
GT>- |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357655 |
TT>-,T |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357656 |
T>-,TT |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357657 |
TT>- |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357658 |
AA>-,A,AAA |
Pathogenic, not-provided |
Stop gained, non coding transcript variant, coding sequence variant, intron variant, frameshift variant |
| rs80357659 |
C>- |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357660 |
C>-,CC |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357661 |
AACT>- |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357662 |
T>- |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357663 |
T>- |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357664 |
CT>- |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357665 |
->G |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357666 |
TT>- |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357668 |
G>- |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357669 |
G>- |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357670 |
CA>- |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357671 |
GAAG>- |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357672 |
->T |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357673 |
A>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357674 |
TCAC>- |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357675 |
ACCTTGAA>- |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357676 |
C>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357678 |
AA>- |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357679 |
C>- |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357681 |
A>-,AA |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357682 |
C>- |
Pathogenic |
Initiator codon variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357683 |
A>-,AA |
Pathogenic, not-provided |
Stop gained, non coding transcript variant, coding sequence variant, intron variant, frameshift variant |
| rs80357684 |
T>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357686 |
TT>-,T,TTT |
Likely-pathogenic, pathogenic, not-provided |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357687 |
->A |
Pathogenic |
Stop gained, intron variant, non coding transcript variant, coding sequence variant |
| rs80357688 |
TT>-,T |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357689 |
C>- |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357690 |
->A,ACA,CA |
Pathogenic |
Stop gained, non coding transcript variant, coding sequence variant, intron variant, frameshift variant, inframe insertion |
| rs80357691 |
AC>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357693 |
->T |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357694 |
C>- |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357695 |
CT>- |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357697 |
TCTT>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357698 |
AGTT>- |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357699 |
->GA |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357700 |
T>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357701 |
GCTT>- |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357702 |
T>-,TT |
Pathogenic |
Stop gained, non coding transcript variant, coding sequence variant, intron variant, frameshift variant |
| rs80357703 |
T>- |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357704 |
->T |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357706 |
CA>- |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357707 |
GAAC>- |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357708 |
CA>-,CACA |
Pathogenic |
Stop gained, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357709 |
T>-,TT |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357710 |
CA>- |
Pathogenic |
Stop gained, inframe indel, non coding transcript variant, coding sequence variant |
| rs80357711 |
T>- |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357712 |
GATTT>- |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357714 |
->T |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357715 |
->T |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357716 |
->C |
Pathogenic |
Stop gained, non coding transcript variant, coding sequence variant |
| rs80357717 |
->AT |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357718 |
AAGAG>- |
Pathogenic |
Stop gained, non coding transcript variant, coding sequence variant |
| rs80357719 |
CT>- |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357720 |
A>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357721 |
T>- |
Pathogenic |
Non coding transcript variant, frameshift variant, coding sequence variant, 3 prime UTR variant |
| rs80357722 |
C>-,CC |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357723 |
G>- |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357724 |
AA>-,A,AAA |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357725 |
A>- |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357726 |
->A |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357727 |
CT>- |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357728 |
CA>- |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357729 |
->T |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357730 |
CT>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357731 |
CCTT>- |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357732 |
T>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357734 |
->A |
Pathogenic |
Non coding transcript variant, 5 prime UTR variant, coding sequence variant, frameshift variant |
| rs80357735 |
T>- |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357736 |
T>- |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357737 |
T>- |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357738 |
GT>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357739 |
C>-,CC |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357740 |
G>- |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357741 |
A>- |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357742 |
->AG |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357743 |
C>-,CC |
Pathogenic |
Non coding transcript variant, splice acceptor variant, coding sequence variant |
| rs80357744 |
->T |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357746 |
->C |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357747 |
CA>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357748 |
C>-,CC |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357749 |
AATG>- |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357750 |
G>- |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357751 |
G>-,GG |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357753 |
->C |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357754 |
CT>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357756 |
T>- |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357757 |
->CT |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357758 |
A>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357760 |
AA>-,AAA |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357762 |
->A |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357763 |
ATTT>- |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357764 |
->TC |
Pathogenic |
Stop gained, intron variant, non coding transcript variant, coding sequence variant |
| rs80357765 |
G>- |
Pathogenic |
Stop gained, non coding transcript variant, coding sequence variant |
| rs80357766 |
A>- |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357767 |
T>- |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357768 |
->A |
Pathogenic |
Stop gained, intron variant, non coding transcript variant, coding sequence variant |
| rs80357769 |
->C |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357770 |
TTTT>CTTTC,NNNNN,TTT,TTTTT |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357772 |
AT>- |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357773 |
GT>- |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357774 |
C>-,CC |
Pathogenic |
Stop gained, non coding transcript variant, coding sequence variant, intron variant, frameshift variant |
| rs80357775 |
->G |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357776 |
->T |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357778 |
->T |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357779 |
->A |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357780 |
CT>- |
Pathogenic |
Stop gained, intron variant, non coding transcript variant, coding sequence variant |
| rs80357781 |
CTTT>- |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357782 |
G>- |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357784 |
T>-,TT |
Pathogenic, not-provided |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357785 |
->A |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357786 |
T>- |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357787 |
TC>- |
Pathogenic |
Stop gained, non coding transcript variant, coding sequence variant |
| rs80357788 |
->T |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357790 |
->T |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357791 |
T>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357792 |
->CT |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357793 |
G>- |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357794 |
C>- |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357795 |
AG>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357796 |
T>- |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357797 |
->GAAG |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357798 |
A>- |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357799 |
C>- |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357800 |
GT>- |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357801 |
ATTA>-,ATTAATTA |
Pathogenic |
Stop gained, non coding transcript variant, coding sequence variant, intron variant, frameshift variant |
| rs80357802 |
TT>-,TTT |
Pathogenic, not-provided |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357804 |
AC>- |
Pathogenic |
Stop gained, inframe indel, non coding transcript variant, coding sequence variant |
| rs80357805 |
CT>-,CTCT |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357806 |
->ATTC |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357808 |
C>- |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357809 |
->T |
Pathogenic |
Stop gained, intron variant, non coding transcript variant, coding sequence variant |
| rs80357810 |
CC>- |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357812 |
T>- |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357813 |
TT>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357814 |
TT>- |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357815 |
G>-,GG |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357816 |
TCTGTAG>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357817 |
->C |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357818 |
TT>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357819 |
GATGA>- |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357820 |
TAACGAG>- |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357821 |
T>- |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357822 |
CTGT>- |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357823 |
->G |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357824 |
A>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357825 |
TGGATTTC>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357827 |
A>- |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357828 |
GA>- |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357829 |
T>-,TTT |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357830 |
->T |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357831 |
->T |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357832 |
ATCT>- |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357833 |
->TT |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357834 |
CT>- |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357835 |
->T |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357836 |
G>- |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357837 |
TG>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357838 |
A>-,AA |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357839 |
C>- |
Pathogenic |
Non coding transcript variant, frameshift variant, coding sequence variant, 3 prime UTR variant |
| rs80357840 |
ACCA>- |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357841 |
A>-,AA |
Pathogenic |
Stop gained, non coding transcript variant, coding sequence variant, intron variant, frameshift variant |
| rs80357842 |
CACT>- |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357843 |
AA>- |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357844 |
T>- |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357845 |
AG>- |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357847 |
->CT |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357848 |
->T |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357849 |
->T |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357850 |
GG>G,T |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357851 |
G>- |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357852 |
TT>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357854 |
TT>-,T |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357855 |
T>- |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357856 |
->CTCAT |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357857 |
->T |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357858 |
A>-,AA |
Pathogenic |
Stop gained, non coding transcript variant, coding sequence variant, intron variant, frameshift variant |
| rs80357859 |
C>- |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357860 |
C>- |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357861 |
C>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357863 |
T>- |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357864 |
TTGT>-,TTGTTTGT |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357865 |
T>- |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357867 |
CTTT>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357868 |
GACA>- |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357869 |
C>- |
Pathogenic |
Intron variant, frameshift variant, coding sequence variant |
| rs80357870 |
G>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357871 |
->NNN,T |
Pathogenic |
Non coding transcript variant, coding sequence variant, intron variant, inframe indel, frameshift variant |
| rs80357872 |
G>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357873 |
T>- |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357874 |
C>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357876 |
T>- |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357877 |
AGTATCTTCCT>- |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357878 |
->G |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357879 |
A>-,AA |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357880 |
A>-,AA |
Pathogenic |
Stop gained, non coding transcript variant, coding sequence variant, intron variant, frameshift variant |
| rs80357881 |
AG>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357882 |
TG>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357883 |
->C |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357884 |
T>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357885 |
T>-,TT |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357886 |
C>-,CC |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357887 |
AG>- |
Pathogenic |
Stop gained, non coding transcript variant, coding sequence variant |
| rs80357888 |
ATTTA>- |
Other, pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357890 |
CA>- |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357892 |
GT>- |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357893 |
T>- |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357894 |
ATTAGTTAAAG>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357895 |
AC>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357896 |
G>- |
Pathogenic |
Stop gained, non coding transcript variant, coding sequence variant |
| rs80357897 |
CT>- |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357899 |
AA>-,A |
Pathogenic |
Stop gained, non coding transcript variant, coding sequence variant, intron variant, frameshift variant |
| rs80357900 |
T>- |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357901 |
A>- |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357902 |
->T |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357904 |
T>- |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357905 |
G>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357906 |
->G |
Risk-factor, pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357907 |
T>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357908 |
G>- |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357909 |
->C |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357912 |
A>-,AA |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357913 |
C>- |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357915 |
->C |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357916 |
G>-,GG |
Pathogenic, not-provided |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357918 |
TT>- |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357919 |
TGAG>- |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357920 |
CTTTAA>- |
Pathogenic |
Stop gained, non coding transcript variant, coding sequence variant, intron variant, inframe indel |
| rs80357921 |
TT>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357922 |
G>- |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357923 |
G>- |
Pathogenic |
Stop gained, intron variant, non coding transcript variant, coding sequence variant |
| rs80357925 |
T>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357926 |
->T |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357927 |
T>- |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357928 |
->A,AA |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357929 |
A>- |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357930 |
->AG |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357932 |
->A |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357933 |
C>- |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357934 |
T>-,TT |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357935 |
->AGAT |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357936 |
G>- |
Pathogenic |
Stop gained, intron variant, non coding transcript variant, coding sequence variant |
| rs80357937 |
C>- |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357938 |
C>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357939 |
T>- |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357940 |
->GG |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357941 |
A>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357942 |
->T |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357943 |
T>- |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357944 |
C>- |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357945 |
CA>- |
Pathogenic |
Stop gained, intron variant, non coding transcript variant, coding sequence variant |
| rs80357946 |
C>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357947 |
C>- |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357948 |
->A |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357949 |
TT>- |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357950 |
T>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357951 |
A>-,AA |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357953 |
C>- |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357954 |
T>- |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357955 |
GA>- |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357956 |
TT>- |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357957 |
C>- |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357959 |
G>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357960 |
C>- |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357962 |
GG>- |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357964 |
GAACGTC>- |
Pathogenic |
Stop gained, intron variant, non coding transcript variant, coding sequence variant |
| rs80357965 |
T>- |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357966 |
T>-,TT |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357967 |
->TCTCTAATGTTATT |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357968 |
->GC |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357969 |
CT>- |
Pathogenic |
Stop gained, intron variant, non coding transcript variant, coding sequence variant |
| rs80357970 |
G>- |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357971 |
TT>-,T |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357972 |
AC>- |
Pathogenic |
Stop gained, non coding transcript variant, coding sequence variant, intron variant, inframe indel |
| rs80357973 |
CCAATTGC>-,CCAATTGCCCAATTGC |
Pathogenic |
Non coding transcript variant, splice acceptor variant, coding sequence variant |
| rs80357974 |
->G |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357976 |
T>- |
Pathogenic |
Non coding transcript variant, frameshift variant, coding sequence variant, 3 prime UTR variant |
| rs80357977 |
CA>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357978 |
TT>-,T,TTT |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357979 |
T>- |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357980 |
T>- |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357981 |
C>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357982 |
T>-,TT |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357984 |
TT>- |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357985 |
T>- |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357986 |
->A |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357987 |
C>- |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357989 |
->TAATGAG |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357990 |
->T |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357991 |
T>- |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357992 |
GA>- |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357996 |
->T |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357997 |
C>-,CC |
Pathogenic |
Stop gained, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80357998 |
A>- |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80358002 |
T>A,C |
Pathogenic, not-provided |
Splice acceptor variant |
| rs80358004 |
C>A,G,T |
Likely-pathogenic, pathogenic |
Splice donor variant |
| rs80358007 |
T>A,C |
Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance |
Intron variant |
| rs80358008 |
C>A,G,T |
Likely-pathogenic, pathogenic |
Splice acceptor variant |
| rs80358009 |
A>C,G |
Likely-pathogenic, pathogenic |
Splice donor variant |
| rs80358011 |
T>A,C,G |
Likely-pathogenic, pathogenic |
Splice acceptor variant |
| rs80358015 |
T>C |
Conflicting-interpretations-of-pathogenicity, pathogenic, uncertain-significance |
Intron variant |
| rs80358018 |
C>G,T |
Likely-pathogenic, pathogenic-likely-pathogenic, pathogenic |
Intron variant, splice acceptor variant |
| rs80358019 |
T>C,G |
Pathogenic |
Splice acceptor variant |
| rs80358020 |
C>A,G,T |
Likely-pathogenic, pathogenic, uncertain-significance |
Splice acceptor variant |
| rs80358023 |
C>G |
Likely-pathogenic, pathogenic |
Intron variant |
| rs80358025 |
A>C |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Intron variant |
| rs80358026 |
A>G |
Pathogenic |
Intron variant, splice donor variant |
| rs80358027 |
C>A,G,T |
Likely-pathogenic, pathogenic |
Splice donor variant |
| rs80358028 |
C>T |
Pathogenic |
Intron variant, splice donor variant |
| rs80358029 |
C>G,T |
Likely-pathogenic, pathogenic |
Splice acceptor variant |
| rs80358030 |
C>A,G,T |
Likely-pathogenic, pathogenic |
Splice donor variant |
| rs80358033 |
T>C,G |
Conflicting-interpretations-of-pathogenicity, uncertain-significance, benign, not-provided |
Splice acceptor variant |
| rs80358034 |
G>A,C,T |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Intron variant |
| rs80358038 |
C>A,G,T |
Likely-pathogenic, conflicting-interpretations-of-pathogenicity |
Intron variant |
| rs80358039 |
G>A |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Intron variant |
| rs80358041 |
C>A,G,T |
Likely-pathogenic, pathogenic |
Splice donor variant |
| rs80358042 |
C>A,G,T |
Pathogenic |
Intron variant, splice donor variant |
| rs80358043 |
C>A,G,T |
Likely-pathogenic, pathogenic |
Intron variant, splice donor variant |
| rs80358044 |
C>A,G,T |
Likely-pathogenic, pathogenic |
Splice donor variant |
| rs80358046 |
T>C |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Intron variant |
| rs80358047 |
A>T |
Pathogenic |
Splice donor variant |
| rs80358048 |
C>A,T |
Likely-pathogenic, pathogenic |
Splice acceptor variant |
| rs80358050 |
G>A,C |
Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance |
Intron variant |
| rs80358051 |
G>C |
Pathogenic |
Intron variant |
| rs80358053 |
C>A,G,T |
Pathogenic |
Splice donor variant |
| rs80358054 |
T>A,C,G |
Likely-pathogenic, pathogenic-likely-pathogenic, pathogenic |
Splice acceptor variant |
| rs80358057 |
C>T |
Conflicting-interpretations-of-pathogenicity, likely-benign, benign |
Intron variant |
| rs80358058 |
A>T |
Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance |
Intron variant |
| rs80358061 |
A>C |
Pathogenic |
Intron variant |
| rs80358062 |
C>A,T |
Conflicting-interpretations-of-pathogenicity, likely-benign, not-provided |
Intron variant |
| rs80358063 |
C>A,T |
Pathogenic |
Splice donor variant |
| rs80358064 |
T>A,C,G |
Pathogenic, uncertain-significance |
Intron variant |
| rs80358065 |
T>C |
Pathogenic |
Splice acceptor variant |
| rs80358066 |
T>A,C,G |
Pathogenic |
Splice acceptor variant |
| rs80358067 |
G>C |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Intron variant |
| rs80358069 |
T>C,G |
Likely-pathogenic, pathogenic-likely-pathogenic, pathogenic, not-provided |
Splice acceptor variant |
| rs80358070 |
C>T |
Pathogenic |
Splice acceptor variant |
| rs80358073 |
C>A,G,T |
Likely-pathogenic, conflicting-interpretations-of-pathogenicity, pathogenic, uncertain-significance |
Intron variant |
| rs80358074 |
A>C,G,T |
Pathogenic, uncertain-significance |
Intron variant |
| rs80358076 |
C>A,T |
Pathogenic |
Splice donor variant |
| rs80358079 |
C>T |
Likely-pathogenic, pathogenic-likely-pathogenic, pathogenic |
Intron variant |
| rs80358082 |
T>A,C,G |
Likely-pathogenic, pathogenic, uncertain-significance |
Intron variant |
| rs80358083 |
T>A,C |
Likely-pathogenic, pathogenic, uncertain-significance |
Intron variant |
| rs80358086 |
A>C,G |
Pathogenic-likely-pathogenic, pathogenic |
Intron variant |
| rs80358087 |
T>A,C,G |
Likely-pathogenic, pathogenic-likely-pathogenic, pathogenic |
Intron variant |
| rs80358089 |
A>G,T |
Likely-pathogenic, pathogenic-likely-pathogenic, pathogenic |
Splice donor variant |
| rs80358094 |
C>A,G,T |
Likely-pathogenic, pathogenic |
Splice donor variant |
| rs80358096 |
T>C,G |
Likely-pathogenic, pathogenic |
Splice acceptor variant |
| rs80358099 |
C>A,G,T |
Pathogenic |
Splice acceptor variant |
| rs80358104 |
C>G,T |
Conflicting-interpretations-of-pathogenicity, likely-benign, benign |
Intron variant |
| rs80358108 |
T>A,C,G |
Pathogenic-likely-pathogenic, pathogenic |
Splice acceptor variant |
| rs80358116 |
C>A,G,T |
Likely-pathogenic, pathogenic |
Splice acceptor variant |
| rs80358119 |
G>C |
Pathogenic |
Intron variant |
| rs80358124 |
T>G |
Pathogenic |
Intron variant |
| rs80358126 |
C>A,G,T |
Likely-pathogenic, pathogenic |
Intron variant, splice acceptor variant |
| rs80358127 |
G>C,T |
Pathogenic, uncertain-significance |
Intron variant |
| rs80358131 |
A>C,G |
Likely-pathogenic, pathogenic-likely-pathogenic, pathogenic |
Intron variant, splice donor variant |
| rs80358133 |
T>C |
Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance |
Intron variant |
| rs80358137 |
C>A,G,T |
Pathogenic, not-provided |
Splice acceptor variant |
| rs80358143 |
A>C,G |
Uncertain-significance, pathogenic, not-provided |
Intron variant |
| rs80358145 |
C>T |
Pathogenic-likely-pathogenic, pathogenic |
Splice donor variant |
| rs80358146 |
C>A,T |
Pathogenic |
Splice acceptor variant |
| rs80358150 |
C>A,G,T |
Likely-pathogenic, pathogenic, not-provided |
Splice donor variant |
| rs80358151 |
A>T |
Pathogenic |
Intron variant |
| rs80358152 |
A>C,G,T |
Likely-pathogenic, pathogenic |
Splice donor variant |
| rs80358155 |
T>G |
Pathogenic |
Intron variant, splice acceptor variant |
| rs80358158 |
C>A,G,T |
Likely-pathogenic, pathogenic |
Splice acceptor variant |
| rs80358162 |
C>A,T |
Likely-pathogenic, pathogenic |
Splice donor variant |
| rs80358163 |
T>C |
Pathogenic |
Intron variant |
| rs80358165 |
C>G,T |
Likely-pathogenic, pathogenic |
Intron variant |
| rs80358169 |
G>A |
Conflicting-interpretations-of-pathogenicity, likely-benign, benign, uncertain-significance |
Intron variant |
| rs80358172 |
C>T |
Conflicting-interpretations-of-pathogenicity, likely-benign, benign |
Intron variant |
| rs80358173 |
C>A,G,T |
Pathogenic |
Splice acceptor variant |
| rs80358178 |
C>A,T |
Likely-pathogenic, conflicting-interpretations-of-pathogenicity, pathogenic, uncertain-significance |
Intron variant, splice donor variant |
| rs80358179 |
A>G,T |
Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign, benign, not-provided |
Intron variant |
| rs80358180 |
T>C |
Conflicting-interpretations-of-pathogenicity, benign-likely-benign, likely-benign, benign |
Intron variant |
| rs80358181 |
T>C |
Likely-pathogenic, pathogenic, uncertain-significance |
Intron variant |
| rs80358182 |
A>C,G,T |
Likely-pathogenic, pathogenic |
Splice donor variant |
| rs80358189 |
C>A,G,T |
Pathogenic-likely-pathogenic, pathogenic |
Splice acceptor variant |
| rs80358331 |
AGC>- |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Intron variant, non coding transcript variant, inframe indel, coding sequence variant |
| rs80358333 |
TCCTCT>- |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Inframe deletion, intron variant, non coding transcript variant, coding sequence variant |
| rs80358337 |
ACT>- |
Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance |
Inframe deletion, intron variant, non coding transcript variant, coding sequence variant |
| rs80358341 |
ATT>- |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Inframe deletion, intron variant, non coding transcript variant, coding sequence variant |
| rs80358343 |
GTG>- |
Likely-pathogenic, conflicting-interpretations-of-pathogenicity, uncertain-significance |
Inframe deletion, non coding transcript variant, coding sequence variant |
| rs80358344 |
ACA>- |
Pathogenic, uncertain-significance |
Inframe deletion, non coding transcript variant, coding sequence variant |
| rs80358345 |
GCA>- |
Likely-pathogenic, pathogenic-likely-pathogenic |
Inframe deletion, non coding transcript variant, coding sequence variant |
| rs80359872 |
TTTTCTGTGCTGGGAGTCCGCCTATCATTACATGTTTCCTTACTTCCAGCCCATCTGTTATGTT>- |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80359873 |
TCTCGGGTCACCAC>- |
Pathogenic |
Non coding transcript variant, frameshift variant, coding sequence variant, 3 prime UTR variant |
| rs80359874 |
ATTCAGACTCCCCATCATGTGAGTCATCAGAACCTAACAG>- |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80359875 |
ATGCTGCTATTTAGTGTTATCCAAGGAACATCTTCAGTATCTCTAGGATTCTCTGA>- |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80359876 |
TCTTCTGGGGTCAGGCCAG>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs80359878 |
GTGAATGATGAAAGCTCCTTCACCACAG>- |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80359879 |
AAAGCACAAATGA>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs80359880 |
GATTCTCTGAG>- |
Pathogenic |
Stop gained, intron variant, non coding transcript variant, coding sequence variant |
| rs80359881 |
ATTAGTAATATTCATCACT>- |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80359882 |
GGTGCTATGCCTAGTAGAC>- |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs80359883 |
ATCAGGTAGGTGTCCAGCTCCTGGCACTGGTAGAGTGCTACACTGTCCAACACCCACTCTCG>- |
Pathogenic |
Non coding transcript variant, frameshift variant, coding sequence variant, 3 prime UTR variant |
| rs80359884 |
TTCTTCTGGGGTCAGGCCA>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs80359885 |
ATTCACTACTTTTCTGT>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs111312760 |
T>A,C |
Pathogenic |
Intron variant, stop gained, coding sequence variant, non coding transcript variant, missense variant |
| rs138608489 |
C>A,T |
Likely-pathogenic, pathogenic |
Coding sequence variant, missense variant, non coding transcript variant, stop gained |
| rs142074233 |
G>A,C |
Pathogenic |
Intron variant, stop gained, coding sequence variant, non coding transcript variant, missense variant |
| rs143920945 |
A>C |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Coding sequence variant, intron variant, non coding transcript variant, missense variant |
| rs145903082 |
C>A,G,T |
Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance |
Intron variant, coding sequence variant, synonymous variant, non coding transcript variant, missense variant |
| rs150729791 |
G>A |
Uncertain-significance, conflicting-interpretations-of-pathogenicity, benign |
Missense variant, non coding transcript variant, coding sequence variant |
| rs199522616 |
G>A,T |
Uncertain-significance, pathogenic |
Missense variant, non coding transcript variant, stop gained, coding sequence variant |
| rs199540030 |
C>T |
Uncertain-significance, benign-likely-benign, likely-benign, conflicting-interpretations-of-pathogenicity |
Intron variant, missense variant, non coding transcript variant, coding sequence variant |
| rs200432771 |
C>A,G,T |
Pathogenic, uncertain-significance |
Non coding transcript variant, stop gained, coding sequence variant, missense variant |
| rs273897652 |
GTG>A |
Pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs273897653 |
C>- |
Pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs273897655 |
C>A,T |
Pathogenic, uncertain-significance |
Intron variant, stop gained, coding sequence variant, missense variant, non coding transcript variant |
| rs273897656 |
A>C,G |
Pathogenic, uncertain-significance |
Intron variant, stop gained, coding sequence variant, missense variant, non coding transcript variant |
| rs273897657 |
A>- |
Pathogenic |
Intron variant, splice donor variant |
| rs273897659 |
TT>C |
Pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs273897662 |
T>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs273897663 |
GC>TA |
Pathogenic |
Non coding transcript variant, intron variant, stop gained, coding sequence variant |
| rs273897664 |
->C |
Pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs273897665 |
->T |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs273898673 |
->T |
Pathogenic |
Intron variant, coding sequence variant, frameshift variant |
| rs273898674 |
G>A |
Pathogenic |
Non coding transcript variant, intron variant, stop gained, coding sequence variant |
| rs273898679 |
A>- |
Pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs273898681 |
CTTTTTCTTCTCTT>- |
Pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs273898682 |
T>A,C |
Benign-likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity, benign |
Intron variant, synonymous variant, coding sequence variant, missense variant, non coding transcript variant |
| rs273899684 |
T>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs273899686 |
TT>- |
Pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs273899689 |
GG>C |
Pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs273899692 |
AG>TA |
Pathogenic |
Non coding transcript variant, intron variant, stop gained, coding sequence variant |
| rs273899694 |
->A |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Splice donor variant |
| rs273899695 |
T>- |
Pathogenic |
Splice acceptor variant |
| rs273899696 |
G>T |
Pathogenic |
Non coding transcript variant, intron variant, stop gained, coding sequence variant |
| rs273899698 |
C>A,T |
Pathogenic, uncertain-significance |
Intron variant, stop gained, coding sequence variant, missense variant, non coding transcript variant |
| rs273899700 |
GGCT>TC |
Pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs273899701 |
GG>C |
Pathogenic |
Non coding transcript variant, intron variant, stop gained, coding sequence variant |
| rs273899703 |
T>- |
Pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs273899705 |
C>- |
Pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs273899706 |
A>- |
Pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs273899707 |
TTT>G,T,TT |
Pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs273899709 |
CT>A |
Pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs273900710 |
G>- |
Pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs273900714 |
AGA>G |
Pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs273900717 |
CTGAG>GCCT,NNNN |
Pathogenic |
Intron variant, frameshift variant, stop gained, coding sequence variant, inframe indel, non coding transcript variant |
| rs273900718 |
C>- |
Pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs273900721 |
TT>-,TTT |
Pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs273900724 |
CACACACACACACGCTTTTTA>T |
Pathogenic-likely-pathogenic, pathogenic |
Intron variant, splice donor variant |
| rs273900728 |
A>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs273900729 |
A>G |
Likely-pathogenic, uncertain-significance |
Non coding transcript variant, coding sequence variant, missense variant |
| rs273900730 |
TAG>AA |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs273900731 |
TTCTGGCTTATAG>AA |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs273900736 |
C>- |
Likely-pathogenic, pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs273900739 |
A>G,T |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Intron variant |
| rs273901744 |
->A |
Pathogenic |
Intron variant |
| rs273901746 |
T>- |
Pathogenic |
Splice acceptor variant |
| rs273901751 |
A>- |
Pathogenic |
Splice donor variant |
| rs273901752 |
ATCAAGTACTTAC>- |
Pathogenic, uncertain-significance |
Intron variant, splice donor variant |
| rs273901753 |
TTGGACCTTGGTGGTTTCTTCCATTGACCACATCTCCTCT>GA |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs273901754 |
C>- |
Likely-pathogenic, pathogenic |
Non coding transcript variant, coding sequence variant, splice donor variant |
| rs273901765 |
A>- |
Pathogenic |
Intron variant, splice donor variant |
| rs273902769 |
->A |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs273902770 |
GA>- |
Benign, conflicting-interpretations-of-pathogenicity, likely-benign |
Intron variant |
| rs273902774 |
T>- |
Benign, conflicting-interpretations-of-pathogenicity, likely-benign |
Intron variant |
| rs273902775 |
CTCGGGTCACC>C,T |
Not-provided, pathogenic |
Non coding transcript variant, frameshift variant, coding sequence variant, 3 prime UTR variant |
| rs273902779 |
C>G,T |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Non coding transcript variant, coding sequence variant, missense variant |
| rs273902781 |
C>- |
Benign-likely-benign, conflicting-interpretations-of-pathogenicity, likely-benign |
Intron variant |
| rs273902789 |
G>-,GG |
Benign, conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign |
Intron variant |
| rs273902791 |
T>- |
Pathogenic |
Intron variant, splice acceptor variant |
| rs273902792 |
A>C,T |
Pathogenic |
Non coding transcript variant, intron variant, stop gained, coding sequence variant |
| rs273903793 |
C>- |
Pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs273903794 |
C>- |
Pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs369588942 |
C>A |
Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign |
Non coding transcript variant, intron variant, coding sequence variant, missense variant |
| rs374435098 |
C>T |
Likely-pathogenic |
Intron variant, splice acceptor variant |
| rs386134270 |
TAC>G |
Pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs387906563 |
->GCTCCACATG |
Pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs397507180 |
TGATTCAGACTCCCCATCATGTGAGTCATCAGAACCTAACA>- |
Pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs397507181 |
TTGATTCAGACTCCCCATCATGTGAGTCATCAGAACCTAACA>- |
Pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, inframe indel |
| rs397507182 |
TTTGATTCAGACTCCCCATCATGTGAGTCATCAGAACCTAACA>- |
Pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs397507183 |
ATTTGATTCAGACTCCCCATCATGTGAGTCATCAGAACCTAACA>- |
Pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs397507187 |
C>T |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Non coding transcript variant, intron variant, coding sequence variant, missense variant |
| rs397507192 |
->T |
Pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs397507193 |
C>- |
Pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs397507194 |
T>-,TT |
Pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs397507195 |
T>- |
Pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs397507196 |
T>C,G |
Benign-likely-benign, conflicting-interpretations-of-pathogenicity, benign, likely-benign |
Non coding transcript variant, intron variant, coding sequence variant, missense variant |
| rs397507199 |
A>C,G |
Uncertain-significance, conflicting-interpretations-of-pathogenicity, benign, likely-benign, benign-likely-benign |
Non coding transcript variant, intron variant, coding sequence variant, missense variant |
| rs397507200 |
A>- |
Pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs397507201 |
T>C |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Non coding transcript variant, intron variant, coding sequence variant, missense variant |
| rs397507204 |
T>C |
Conflicting-interpretations-of-pathogenicity, benign, likely-benign |
Non coding transcript variant, intron variant, coding sequence variant, missense variant |
| rs397507205 |
->A |
Pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs397507206 |
G>A,T |
Pathogenic, conflicting-interpretations-of-pathogenicity, benign |
Intron variant, stop gained, coding sequence variant, missense variant, non coding transcript variant |
| rs397507207 |
CA>- |
Pathogenic |
Non coding transcript variant, intron variant, stop gained, coding sequence variant |
| rs397507208 |
CT>- |
Pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs397507210 |
A>- |
Pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs397507213 |
T>C,G |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Non coding transcript variant, intron variant, coding sequence variant, missense variant |
| rs397507215 |
G>A |
Pathogenic |
Non coding transcript variant, intron variant, stop gained, coding sequence variant |
| rs397507216 |
T>-,TT |
Pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs397507217 |
T>- |
Pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs397507218 |
CC>G |
Pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs397507219 |
A>C,G,T |
Not-provided, pathogenic, uncertain-significance |
Intron variant, stop gained, coding sequence variant, missense variant, non coding transcript variant |
| rs397507220 |
->T |
Pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs397507221 |
->TG |
Pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs397507222 |
G>- |
Pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs397507224 |
G>A |
Pathogenic |
Non coding transcript variant, intron variant, stop gained, coding sequence variant |
| rs397507229 |
A>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs397507230 |
T>- |
Pathogenic |
Non coding transcript variant, stop gained, coding sequence variant |
| rs397507231 |
->T |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs397507233 |
T>G |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Non coding transcript variant, coding sequence variant, missense variant |
| rs397507236 |
->G |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs397507237 |
TATGT>G |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs397507239 |
T>A,G |
Pathogenic, uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign |
Non coding transcript variant, stop gained, coding sequence variant, missense variant |
| rs397507241 |
C>G,T |
Likely-pathogenic, pathogenic, uncertain-significance |
Non coding transcript variant, coding sequence variant, missense variant |
| rs397507242 |
A>C,G |
Likely-pathogenic, uncertain-significance |
Non coding transcript variant, coding sequence variant, missense variant |
| rs397507244 |
C>A,T |
Pathogenic, uncertain-significance |
Non coding transcript variant, stop gained, coding sequence variant, missense variant |
| rs397507245 |
C>A,G,T |
Likely-pathogenic, not-provided, uncertain-significance |
Non coding transcript variant, coding sequence variant, missense variant |
| rs397507254 |
G>-,GG |
Likely-pathogenic, uncertain-significance |
Non coding transcript variant, frameshift variant, coding sequence variant, 3 prime UTR variant |
| rs397508826 |
T>A,C |
Pathogenic, uncertain-significance |
Intron variant, stop gained, coding sequence variant, missense variant, non coding transcript variant |
| rs397508827 |
AG>- |
Pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs397508828 |
A>- |
Not-provided, pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs397508829 |
T>A,G |
Not-provided, pathogenic |
Intron variant, stop gained, coding sequence variant, missense variant, non coding transcript variant |
| rs397508830 |
GCAGTTTCTG>- |
Pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs397508833 |
G>A,C |
Pathogenic, uncertain-significance |
Intron variant, stop gained, coding sequence variant, missense variant, non coding transcript variant |
| rs397508834 |
G>- |
Pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs397508835 |
->T |
Not-provided, pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs397508836 |
->G |
Not-provided, pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs397508837 |
G>- |
Not-provided, pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs397508838 |
C>T |
Pathogenic |
Non coding transcript variant, intron variant, stop gained, coding sequence variant |
| rs397508839 |
GT>- |
Not-provided, pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs397508840 |
G>A |
Pathogenic |
Non coding transcript variant, intron variant, stop gained, coding sequence variant |
| rs397508841 |
->C |
Pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs397508842 |
AA>-,AAA |
Not-provided, pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs397508844 |
AACA>- |
Not-provided, pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs397508845 |
A>- |
Pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs397508846 |
T>-,TT |
Not-provided, pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs397508847 |
T>- |
Not-provided, pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs397508848 |
AT>- |
Pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs397508850 |
->AT |
Not-provided, pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs397508851 |
C>A |
Not-provided, pathogenic |
Non coding transcript variant, intron variant, stop gained, coding sequence variant |
| rs397508852 |
AGT>TC |
Not-provided, pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs397508854 |
A>T |
Pathogenic |
Non coding transcript variant, intron variant, stop gained, coding sequence variant |
| rs397508855 |
->C |
Not-provided, pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs397508856 |
TACTT>A |
Pathogenic |
Non coding transcript variant, coding sequence variant, intron variant, splice donor variant |
| rs397508857 |
TT>- |
Pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs397508858 |
ACTT>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, intron variant, splice donor variant |
| rs397508861 |
T>- |
Pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs397508862 |
G>- |
Pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs397508863 |
T>- |
Not-provided, pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs397508864 |
->GGTTTTCCCA |
Pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs397508867 |
->C |
Pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs397508870 |
T>- |
Pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs397508871 |
C>- |
Pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs397508872 |
GAGGGGACGCTCTTGT>- |
Pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs397508873 |
->TAATTTATTT |
Not-provided, pathogenic |
Intron variant, stop gained, coding sequence variant, non coding transcript variant, inframe insertion |
| rs397508874 |
T>- |
Pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs397508876 |
GCTTT>- |
Not-provided, pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs397508877 |
T>A |
Pathogenic |
Non coding transcript variant, intron variant, stop gained, coding sequence variant |
| rs397508878 |
->A |
Pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs397508879 |
CTCCT>- |
Not-provided, pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs397508880 |
T>A |
Not-provided, pathogenic |
Non coding transcript variant, intron variant, stop gained, coding sequence variant |
| rs397508883 |
CTGC>TTTA |
Pathogenic |
Intron variant, stop gained, coding sequence variant, inframe indel, non coding transcript variant |
| rs397508886 |
C>- |
Not-provided, pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs397508888 |
GATTTAT>- |
Not-provided, pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs397508889 |
->T |
Pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs397508890 |
G>- |
Not-provided, pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs397508891 |
->C |
Pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs397508894 |
C>A |
Not-provided, pathogenic |
Non coding transcript variant, intron variant, stop gained, coding sequence variant |
| rs397508900 |
T>-,TT |
Not-provided, pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs397508902 |
C>A,T |
Pathogenic, uncertain-significance |
Intron variant, stop gained, coding sequence variant, missense variant, non coding transcript variant |
| rs397508903 |
C>A,G |
Pathogenic |
Intron variant, stop gained, coding sequence variant, missense variant, non coding transcript variant |
| rs397508905 |
T>A |
Not-provided, pathogenic |
Non coding transcript variant, intron variant, stop gained, coding sequence variant |
| rs397508907 |
TG>- |
Not-provided, pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs397508908 |
T>- |
Pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs397508909 |
G>C |
Pathogenic |
Non coding transcript variant, intron variant, stop gained, coding sequence variant |
| rs397508910 |
G>- |
Not-provided, pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs397508911 |
TTTT>-,TTT |
Pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs397508912 |
AC>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs397508913 |
G>- |
Pathogenic |
Non coding transcript variant, intron variant, stop gained, coding sequence variant |
| rs397508914 |
->A |
Not-provided, pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs397508916 |
A>- |
Pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs397508917 |
CATA>- |
Not-provided, pathogenic |
Intron variant, splice donor variant, frameshift variant, coding sequence variant, non coding transcript variant |
| rs397508919 |
T>- |
Pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs397508920 |
CTTCACTGCT>- |
Pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs397508921 |
AT>- |
Pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs397508924 |
->A |
Not-provided, pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs397508926 |
G>A,T |
Likely-pathogenic, pathogenic, uncertain-significance |
Intron variant, stop gained, coding sequence variant, missense variant, non coding transcript variant |
| rs397508928 |
->AC |
Not-provided, pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs397508929 |
T>A,C |
Pathogenic, uncertain-significance |
Intron variant, stop gained, coding sequence variant, missense variant, non coding transcript variant |
| rs397508930 |
G>- |
Not-provided, pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs397508931 |
CA>- |
Not-provided, pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs397508932 |
C>GG |
Pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs397508933 |
T>- |
Not-provided, pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs397508935 |
CTTG>- |
Pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs397508936 |
AT>- |
Not-provided, pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs397508937 |
T>- |
Not-provided, pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs397508938 |
T>-,TT |
Not-provided, pathogenic |
Intron variant, coding sequence variant, frameshift variant |
| rs397508939 |
AA>-,A |
Pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs397508940 |
T>A,C,G |
Likely-pathogenic, pathogenic |
Splice acceptor variant |
| rs397508941 |
TTGACAAATTCTTT>- |
Pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs397508943 |
G>- |
Not-provided, pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs397508944 |
C>- |
Not-provided, pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs397508945 |
AG>- |
Pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs397508946 |
CTTTT>- |
Pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs397508947 |
CTTT>- |
Pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs397508948 |
TT>C,T |
Not-provided, pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs397508949 |
C>A |
Pathogenic |
Non coding transcript variant, intron variant, stop gained, coding sequence variant |
| rs397508950 |
CT>- |
Not-provided, pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs397508951 |
AACT>- |
Pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs397508954 |
GAGAT>- |
Pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs397508955 |
->TGAAATACTGCTACTCTCT |
Pathogenic |
Intron variant, stop gained, coding sequence variant, inframe indel, non coding transcript variant |
| rs397508956 |
A>- |
Not-provided, pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs397508957 |
G>AACAAGTTGAC |
Not-provided, pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs397508960 |
GA>- |
Pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs397508961 |
A>T |
Pathogenic |
Non coding transcript variant, intron variant, stop gained, coding sequence variant |
| rs397508962 |
G>- |
Pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs397508963 |
A>- |
Pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs397508965 |
C>- |
Not-provided, pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs397508967 |
T>-,TT |
Pathogenic-likely-pathogenic, pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs397508968 |
T>A,G |
Pathogenic |
Intron variant, stop gained, coding sequence variant, missense variant, non coding transcript variant |
| rs397508970 |
T>C,G |
Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign |
Intron variant, synonymous variant, coding sequence variant, missense variant, non coding transcript variant |
| rs397508972 |
->GGGGA |
Pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs397508973 |
->TGGATACTTA |
Pathogenic |
Non coding transcript variant, intron variant, stop gained, coding sequence variant |
| rs397508974 |
TG>- |
Pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs397508975 |
T>- |
Pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs397508977 |
C>- |
Not-provided, pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs397508978 |
A>-,AA |
Not-provided, pathogenic |
Intron variant, frameshift variant, stop gained, coding sequence variant, non coding transcript variant |
| rs397508979 |
->GAAAAGTGAA |
Pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs397508981 |
TGAGC>- |
Pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs397508983 |
G>A,C |
Pathogenic |
Intron variant, stop gained, coding sequence variant, missense variant, non coding transcript variant |
| rs397508986 |
G>AA |
Pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs397508988 |
C>A,T |
Pathogenic |
Intron variant, stop gained, coding sequence variant, missense variant, non coding transcript variant |
| rs397508989 |
T>-,TT |
Pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs397508990 |
GA>- |
Pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs397508991 |
->T |
Not-provided, pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs397508992 |
->A |
Not-provided, pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs397508993 |
A>- |
Not-provided, pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs397508994 |
A>C,G |
Not-provided, pathogenic |
Intron variant, stop gained, coding sequence variant, missense variant, non coding transcript variant |
| rs397508995 |
CT>- |
Not-provided, pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs397508997 |
G>A |
Pathogenic |
Non coding transcript variant, intron variant, stop gained, coding sequence variant |
| rs397508998 |
GTTT>- |
Pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs397509002 |
G>A |
Pathogenic |
Non coding transcript variant, intron variant, stop gained, coding sequence variant |
| rs397509004 |
G>A,C,T |
Not-provided, pathogenic, uncertain-significance |
Intron variant, stop gained, coding sequence variant, missense variant, non coding transcript variant |
| rs397509005 |
G>- |
Likely-pathogenic, pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs397509008 |
->A |
Not-provided, pathogenic |
Non coding transcript variant, intron variant, stop gained, coding sequence variant |
| rs397509011 |
AC>- |
Not-provided, pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs397509012 |
T>-,TT |
Pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs397509013 |
CTTA>- |
Pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs397509014 |
A>- |
Pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs397509015 |
AC>- |
Pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs397509016 |
TA>- |
Pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs397509017 |
AGAGCCTCCT>- |
Not-provided, pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs397509018 |
->A |
Not-provided, pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs397509019 |
AA>- |
Pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs397509020 |
->T |
Not-provided, pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs397509021 |
ACTGA>- |
Not-provided, pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs397509023 |
C>A |
Pathogenic |
Non coding transcript variant, intron variant, stop gained, coding sequence variant |
| rs397509025 |
->GG |
Not-provided, pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs397509027 |
G>- |
Pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs397509028 |
A>- |
Not-provided, pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs397509030 |
TAGTTTT>- |
Pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs397509031 |
TTCTTACATTTAGTTTT>- |
Pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs397509035 |
G>A,C |
Pathogenic, uncertain-significance |
Intron variant, stop gained, coding sequence variant, missense variant, non coding transcript variant |
| rs397509036 |
AATATTGCTT>- |
Not-provided, pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs397509038 |
A>- |
Pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs397509040 |
T>- |
Pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs397509041 |
C>- |
Not-provided, pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs397509042 |
->C |
Not-provided, pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs397509043 |
C>- |
Not-provided, pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs397509044 |
G>- |
Pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs397509045 |
TACT>- |
Not-provided, pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs397509046 |
T>- |
Not-provided, pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs397509047 |
->C |
Not-provided, pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs397509049 |
C>- |
Pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs397509050 |
G>- |
Pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs397509051 |
T>- |
Pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs397509054 |
T>- |
Pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs397509057 |
TCTT>- |
Pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs397509058 |
TCTT>- |
Pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs397509059 |
CT>- |
Pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs397509060 |
ATTAA>- |
Not-provided, pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs397509061 |
G>- |
Pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs397509063 |
C>-,CC |
Not-provided, pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs397509064 |
C>- |
Not-provided, pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs397509065 |
->A,AGTAGTCA |
Not-provided, pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs397509066 |
G>TA |
Pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs397509067 |
AAAC>- |
Pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs397509068 |
A>- |
Not-provided, pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs397509069 |
->A |
Not-provided, pathogenic |
Non coding transcript variant, intron variant, stop gained, coding sequence variant |
| rs397509070 |
A>- |
Not-provided, pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs397509071 |
C>A,T |
Not-provided, pathogenic |
Non coding transcript variant, stop gained, coding sequence variant, missense variant |
| rs397509072 |
C>A,T |
Pathogenic, uncertain-significance |
Intron variant, stop gained, coding sequence variant, missense variant, non coding transcript variant |
| rs397509073 |
GTATCTTCCT>- |
Not-provided, pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs397509074 |
C>- |
Not-provided, pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs397509076 |
AA>- |
Pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs397509078 |
GTCAT>- |
Not-provided, pathogenic |
Non coding transcript variant, intron variant, stop gained, coding sequence variant |
| rs397509079 |
C>A |
Pathogenic |
Non coding transcript variant, intron variant, stop gained, coding sequence variant |
| rs397509080 |
GC>- |
Not-provided, pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs397509081 |
C>A |
Pathogenic |
Non coding transcript variant, intron variant, stop gained, coding sequence variant |
| rs397509083 |
->A |
Pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs397509085 |
A>T |
Pathogenic |
Non coding transcript variant, intron variant, stop gained, coding sequence variant |
| rs397509086 |
CTGAGCC>- |
Pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs397509087 |
AATTTC>TT |
Not-provided, pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs397509090 |
C>- |
Pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs397509091 |
A>C,T |
Not-provided, pathogenic |
Non coding transcript variant, intron variant, stop gained, coding sequence variant |
| rs397509092 |
->A |
Pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs397509093 |
TTAC>- |
Pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs397509094 |
GTTT>- |
Pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs397509095 |
T>- |
Pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs397509096 |
A>- |
Not-provided, pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs397509097 |
->G |
Not-provided, pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs397509098 |
A>C,T |
Pathogenic, uncertain-significance |
Intron variant, stop gained, coding sequence variant, missense variant, non coding transcript variant |
| rs397509099 |
CA>- |
Pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs397509101 |
->A |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs397509103 |
TT>- |
Pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs397509104 |
AATTCTCC>- |
Not-provided, pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs397509105 |
C>A,T |
Not-provided, pathogenic, uncertain-significance |
Intron variant, stop gained, coding sequence variant, missense variant, non coding transcript variant |
| rs397509106 |
TC>- |
Pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs397509108 |
->A |
Pathogenic |
Non coding transcript variant, intron variant, stop gained, coding sequence variant |
| rs397509109 |
->A |
Pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs397509113 |
C>- |
Pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs397509114 |
->G |
Not-provided, pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs397509115 |
A>- |
Not-provided, pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs397509116 |
TAGC>- |
Not-provided, pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs397509117 |
C>- |
Pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs397509118 |
T>- |
Pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs397509119 |
T>- |
Pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs397509120 |
GTAT>- |
Not-provided, pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs397509122 |
G>- |
Pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs397509123 |
C>- |
Pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs397509124 |
->A |
Not-provided, pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs397509125 |
A>- |
Not-provided, pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs397509127 |
C>- |
Pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs397509128 |
AGAC>- |
Pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs397509130 |
C>- |
Pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs397509131 |
->C |
Pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs397509132 |
A>G,T |
Pathogenic |
Intron variant, stop gained, coding sequence variant, missense variant, non coding transcript variant |
| rs397509133 |
TTCTT>- |
Pathogenic |
Non coding transcript variant, intron variant, stop gained, coding sequence variant |
| rs397509134 |
GATTATT>- |
Pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs397509135 |
CTTG>- |
Pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs397509136 |
C>A,T |
Not-provided, pathogenic, uncertain-significance |
Intron variant, stop gained, coding sequence variant, missense variant, non coding transcript variant |
| rs397509137 |
AG>- |
Pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs397509138 |
A>- |
Not-provided, pathogenic |
Non coding transcript variant, intron variant, stop gained, coding sequence variant |
| rs397509139 |
->AGAT |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs397509140 |
A>T |
Not-provided, pathogenic |
Non coding transcript variant, stop gained, coding sequence variant |
| rs397509141 |
GA>- |
Pathogenic |
Non coding transcript variant, stop gained, coding sequence variant |
| rs397509142 |
GAGGA>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs397509144 |
AC>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs397509145 |
A>- |
Not-provided, pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs397509149 |
ACCT>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, intron variant, splice donor variant |
| rs397509151 |
G>A |
Pathogenic |
Non coding transcript variant, stop gained, coding sequence variant |
| rs397509152 |
C>A |
Pathogenic |
Non coding transcript variant, stop gained, coding sequence variant |
| rs397509153 |
C>A,T |
Not-provided, pathogenic, uncertain-significance |
Non coding transcript variant, stop gained, coding sequence variant, missense variant |
| rs397509154 |
->G |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs397509157 |
A>C,G |
Not-provided, pathogenic, uncertain-significance |
Non coding transcript variant, stop gained, coding sequence variant, missense variant |
| rs397509158 |
C>-,CC |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs397509159 |
CT>- |
Not-provided, pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs397509160 |
G>A,T |
Pathogenic, likely-benign |
Non coding transcript variant, synonymous variant, stop gained, coding sequence variant |
| rs397509161 |
AG>- |
Not-provided, pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs397509162 |
T>-,TT |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs397509163 |
AT>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs397509164 |
->TTCT |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs397509165 |
C>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, splice donor variant |
| rs397509168 |
AGGA>- |
Not-provided, pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs397509170 |
T>-,TT |
Likely-pathogenic, not-provided |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs397509171 |
G>A |
Pathogenic |
Non coding transcript variant, stop gained, coding sequence variant |
| rs397509172 |
C>T |
Likely-pathogenic, pathogenic |
Splice donor variant |
| rs397509173 |
A>C,G,T |
Likely-pathogenic, pathogenic |
Splice donor variant |
| rs397509174 |
AA>C |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs397509176 |
C>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs397509177 |
T>- |
Not-provided, pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs397509178 |
GTAG>- |
Not-provided, pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs397509179 |
T>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs397509180 |
C>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs397509181 |
C>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, splice donor variant |
| rs397509182 |
T>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs397509183 |
CT>- |
Not-provided, pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs397509184 |
CTCCTCTTGAG>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs397509185 |
CT>- |
Not-provided, pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs397509186 |
TTGGCAAGTAAGATGTTTCC>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs397509187 |
T>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs397509188 |
GG>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs397509189 |
->T |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs397509190 |
AGGTTAGA>- |
Not-provided, pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs397509191 |
G>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs397509193 |
C>A |
Pathogenic |
Non coding transcript variant, stop gained, coding sequence variant |
| rs397509195 |
G>C |
Pathogenic |
Non coding transcript variant, stop gained, coding sequence variant |
| rs397509196 |
A>- |
Not-provided, pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs397509198 |
->C |
Not-provided, pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs397509199 |
T>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs397509200 |
->G |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs397509201 |
ATTGCATTATACC>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs397509202 |
C>- |
Not-provided, pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs397509203 |
TC>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs397509204 |
G>- |
Not-provided, pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs397509205 |
C>A,G |
Pathogenic, likely-benign |
Non coding transcript variant, stop gained, coding sequence variant, missense variant |
| rs397509206 |
AG>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs397509207 |
TCT>AAAA |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs397509209 |
TCTGGGGTCAGGCCAG>- |
Pathogenic |
Non coding transcript variant, stop gained, coding sequence variant |
| rs397509210 |
A>G |
Pathogenic |
Splice donor variant |
| rs397509211 |
C>A,G,T |
Likely-pathogenic, not-provided, pathogenic |
Intron variant |
| rs397509212 |
T>C,G |
Likely-pathogenic, pathogenic |
Splice acceptor variant |
| rs397509214 |
A>G,T |
Pathogenic, uncertain-significance |
Intron variant |
| rs397509217 |
AA>-,A,AAA |
Pathogenic |
Non coding transcript variant, stop gained, coding sequence variant, frameshift variant |
| rs397509221 |
A>C |
Pathogenic |
Intron variant |
| rs397509223 |
GCAT>- |
Not-provided, pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs397509224 |
CAGC>GCAGAATCAA,GCAGAATGAA |
Not-provided, pathogenic |
Non coding transcript variant, coding sequence variant, inframe indel |
| rs397509227 |
T>C,G |
Likely-pathogenic, uncertain-significance |
Non coding transcript variant, coding sequence variant, missense variant |
| rs397509228 |
A>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs397509229 |
C>A,T |
Pathogenic, uncertain-significance |
Non coding transcript variant, stop gained, coding sequence variant, missense variant |
| rs397509230 |
A>C,T |
Pathogenic |
Non coding transcript variant, stop gained, coding sequence variant |
| rs397509231 |
->A |
Likely-pathogenic, pathogenic |
Splice donor variant |
| rs397509233 |
T>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs397509234 |
ATTCAGCATTTTTC>- |
Not-provided, pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs397509236 |
C>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, splice donor variant |
| rs397509239 |
A>- |
Not-provided, pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs397509240 |
T>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs397509241 |
C>- |
Not-provided, pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs397509243 |
C>A,T |
Likely-pathogenic, uncertain-significance |
Non coding transcript variant, coding sequence variant, missense variant |
| rs397509245 |
->T |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs397509246 |
C>G,T |
Likely-pathogenic, not-provided, uncertain-significance |
Non coding transcript variant, coding sequence variant, missense variant |
| rs397509247 |
G>A |
Pathogenic |
Non coding transcript variant, stop gained, coding sequence variant |
| rs397509248 |
TTTCTGT>- |
Not-provided, pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs397509253 |
T>A,C |
Likely-pathogenic, not-provided, pathogenic |
Splice acceptor variant |
| rs397509256 |
C>A |
Not-provided, pathogenic |
Non coding transcript variant, stop gained, coding sequence variant |
| rs397509257 |
T>C |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Non coding transcript variant, coding sequence variant, missense variant |
| rs397509258 |
A>C,T |
Likely-pathogenic, pathogenic |
Non coding transcript variant, stop gained, coding sequence variant |
| rs397509261 |
A>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs397509262 |
AT>- |
Not-provided, pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs397509264 |
T>A,C,G |
Likely-pathogenic, pathogenic |
Intron variant, splice acceptor variant |
| rs397509265 |
A>C |
Likely-pathogenic, pathogenic |
Intron variant |
| rs397509267 |
G>A,C |
Pathogenic, uncertain-significance |
Intron variant, stop gained, coding sequence variant, missense variant, non coding transcript variant |
| rs397509268 |
C>A,T |
Pathogenic, uncertain-significance |
Intron variant, stop gained, coding sequence variant, missense variant, non coding transcript variant |
| rs397509270 |
AC>CT |
Pathogenic |
Non coding transcript variant, intron variant, stop gained, coding sequence variant |
| rs397509271 |
C>A |
Likely-pathogenic, not-provided |
Non coding transcript variant, intron variant, coding sequence variant, missense variant |
| rs397509272 |
TCCTTCACCACAGAAGC>- |
Not-provided, pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs397509273 |
T>- |
Not-provided, pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs397509274 |
T>A |
Not-provided, pathogenic |
Non coding transcript variant, intron variant, stop gained, coding sequence variant |
| rs397509275 |
C>A,G,T |
Not-provided, conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign |
Intron variant, synonymous variant, coding sequence variant, missense variant, non coding transcript variant |
| rs397509277 |
ACT>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, intron variant, splice donor variant |
| rs397509278 |
T>A |
Pathogenic |
Intron variant |
| rs397509279 |
T>C |
Pathogenic-likely-pathogenic, pathogenic |
Intron variant |
| rs397509283 |
G>A |
Pathogenic |
Non coding transcript variant, stop gained, coding sequence variant, missense variant |
| rs397509284 |
C>T |
Pathogenic |
Non coding transcript variant, stop gained, coding sequence variant, missense variant |
| rs397509286 |
CT>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs397509288 |
C>- |
Likely-pathogenic, pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs397509291 |
G>-,GG,GGG |
Likely-pathogenic, pathogenic |
Non coding transcript variant, frameshift variant, coding sequence variant, 3 prime UTR variant |
| rs397509294 |
->A |
Pathogenic |
Non coding transcript variant, frameshift variant, coding sequence variant, 3 prime UTR variant |
| rs397509295 |
G>A,C,T |
Pathogenic, likely-benign |
Synonymous variant, stop gained, coding sequence variant, missense variant, 3 prime UTR variant, non coding transcript variant |
| rs397509296 |
G>- |
Pathogenic |
Non coding transcript variant, frameshift variant, coding sequence variant, 3 prime UTR variant |
| rs397509297 |
->G |
Pathogenic |
Non coding transcript variant, frameshift variant, coding sequence variant, 3 prime UTR variant |
| rs397509300 |
->CGTT |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs397509302 |
->TGGCTCCTGATTTCATCCCT,TGGTTCCTGATTTCATCCCT |
Not-provided, pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs397509308 |
A>T |
Pathogenic |
Non coding transcript variant, stop gained, coding sequence variant |
| rs397509312 |
A>- |
Pathogenic |
Non coding transcript variant, stop gained, coding sequence variant |
| rs397509314 |
->T |
Not-provided, pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs397509326 |
T>C,G |
Likely-pathogenic, pathogenic |
Intron variant, splice acceptor variant |
| rs397509327 |
C>T |
Benign, uncertain-significance, conflicting-interpretations-of-pathogenicity |
Non coding transcript variant, intron variant, coding sequence variant, missense variant |
| rs397509330 |
G>A |
Pathogenic |
Non coding transcript variant, intron variant, stop gained, coding sequence variant |
| rs397509331 |
A>T |
Pathogenic |
Non coding transcript variant, intron variant, stop gained, coding sequence variant |
| rs397509333 |
->A,G |
Not-provided, pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs397509334 |
T>- |
Not-provided, pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs397509335 |
GCT>A |
Pathogenic |
Non coding transcript variant, intron variant, stop gained, coding sequence variant |
| rs397509336 |
G>- |
Pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs397509337 |
T>- |
Pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs397509338 |
G>A |
Pathogenic |
Non coding transcript variant, intron variant, stop gained, coding sequence variant |
| rs397509339 |
CT>- |
Pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs397509340 |
A>- |
Not-provided, pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs397509341 |
TT>- |
Not-provided, pathogenic |
Non coding transcript variant, intron variant, stop gained, coding sequence variant |
| rs398122354 |
TAA>- |
Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign |
Intron variant |
| rs398122627 |
T>A |
Pathogenic |
Non coding transcript variant, intron variant, stop gained, coding sequence variant |
| rs398122630 |
T>A |
Pathogenic |
Non coding transcript variant, intron variant, stop gained, coding sequence variant |
| rs398122632 |
C>- |
Pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs398122633 |
TT>-,TTT |
Pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs398122635 |
G>A,T |
Pathogenic, likely-benign |
Synonymous variant, stop gained, coding sequence variant, 5 prime UTR variant, non coding transcript variant |
| rs398122636 |
->A |
Pathogenic |
Non coding transcript variant, intron variant, stop gained, coding sequence variant |
| rs398122639 |
T>C |
Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign |
Non coding transcript variant, intron variant, coding sequence variant, missense variant |
| rs398122640 |
C>- |
Pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs398122641 |
T>- |
Pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs398122642 |
T>- |
Pathogenic |
Non coding transcript variant, intron variant, stop gained, coding sequence variant |
| rs398122646 |
T>- |
Pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs398122649 |
C>G,T |
Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign |
Non coding transcript variant, intron variant, coding sequence variant, missense variant |
| rs398122651 |
AT>- |
Pathogenic |
Intron variant, coding sequence variant, frameshift variant |
| rs398122652 |
A>C,G,T |
Benign, conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign |
Intron variant |
| rs398122653 |
TT>- |
Pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs398122654 |
->CT |
Pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs398122657 |
T>-,TT |
Pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs398122659 |
TCAACAAGTTG>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs398122661 |
C>A,T |
Pathogenic |
Non coding transcript variant, stop gained, coding sequence variant, missense variant |
| rs398122662 |
C>A,T |
Pathogenic, uncertain-significance |
Intron variant, stop gained, coding sequence variant, missense variant, non coding transcript variant |
| rs398122663 |
A>-,AA |
Pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs398122667 |
A>- |
Pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs398122669 |
A>- |
Pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs398122670 |
->AG |
Pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs398122673 |
A>- |
Pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs398122674 |
CT>- |
Pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs398122677 |
G>- |
Pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs398122679 |
ATTA>- |
Pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs398122680 |
G>A,C,T |
Pathogenic, uncertain-significance |
Intron variant, stop gained, coding sequence variant, missense variant, non coding transcript variant |
| rs398122681 |
A>C |
Pathogenic |
Non coding transcript variant, intron variant, stop gained, coding sequence variant |
| rs398122682 |
->AA |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs398122685 |
T>A |
Pathogenic |
Non coding transcript variant, stop gained, coding sequence variant |
| rs398122687 |
G>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs398122690 |
G>A,C |
Likely-pathogenic, uncertain-significance, likely-benign |
Intron variant |
| rs398122692 |
A>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs398122695 |
G>A,T |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Non coding transcript variant, coding sequence variant, missense variant |
| rs398122697 |
A>G |
Likely-pathogenic, uncertain-significance |
Non coding transcript variant, intron variant, coding sequence variant, missense variant |
| rs398122699 |
T>A,C |
Likely-pathogenic, pathogenic |
Splice acceptor variant |
| rs398122702 |
A>G |
Pathogenic, uncertain-significance |
Non coding transcript variant, missense variant, coding sequence variant, 3 prime UTR variant |
| rs398122706 |
C>A,T |
Pathogenic, uncertain-significance |
Splice donor variant |
| rs398122709 |
G>- |
Pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs431825382 |
ACAG>- |
Pathogenic |
Non coding transcript variant, 3 prime UTR variant |
| rs431825384 |
AT>- |
Pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs431825386 |
A>- |
Pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs431825387 |
TT>- |
Pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs431825389 |
TT>- |
Pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs431825390 |
->CA |
Pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs431825394 |
T>C,G |
Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign |
Intron variant, synonymous variant, coding sequence variant, missense variant, non coding transcript variant |
| rs431825397 |
G>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs431825398 |
A>- |
Pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs431825404 |
TCTT>- |
Pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs431825406 |
A>G,T |
Pathogenic |
Splice donor variant |
| rs431825409 |
CTTA>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs431825410 |
GTTAA>- |
Pathogenic |
Non coding transcript variant, stop gained, coding sequence variant |
| rs431825414 |
->G |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs483353071 |
GTGGTTT>CTCGCTTTGGAC,NNNNNNNNNNNN |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs483353078 |
->TGTCCCAATGGATACTT |
Pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs483353079 |
->TAGCCCTGAG |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs483353085 |
ATAGAATCACCTTTTGTTTTATTCTCATGACCACTATTAGTAATATTCA>CTTTC,NNNNN |
Pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs483353086 |
->T |
Pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs483353090 |
T>G |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Non coding transcript variant, intron variant, coding sequence variant, missense variant |
| rs483353091 |
CTGTG>ACAGGTT,NNNNNNN |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs483353092 |
->C |
Pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs483353093 |
CT>- |
Pathogenic |
Non coding transcript variant, splice acceptor variant, coding sequence variant |
| rs483353095 |
->T |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs483353099 |
T>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs483353100 |
A>G |
Likely-pathogenic, uncertain-significance |
Non coding transcript variant, coding sequence variant, missense variant |
| rs483353108 |
->T |
Pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs552505690 |
T>C |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Non coding transcript variant, missense variant, intron variant, coding sequence variant |
| rs562553169 |
C>A,G |
Pathogenic |
Coding sequence variant, stop gained, intron variant, non coding transcript variant, missense variant |
| rs587776480 |
TGGTT>- |
Pathogenic |
Coding sequence variant, frameshift variant, intron variant, non coding transcript variant |
| rs587776485 |
CA>- |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
| rs587780798 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant, intron variant, non coding transcript variant |
| rs587780802 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant, intron variant, non coding transcript variant |
| rs587781258 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
| rs587781423 |
TT>-,T |
Pathogenic, likely-pathogenic |
Coding sequence variant, frameshift variant, intron variant, non coding transcript variant |
| rs587781427 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
| rs587781448 |
T>A,C |
Pathogenic, uncertain-significance |
Coding sequence variant, stop gained, intron variant, missense variant, non coding transcript variant |
| rs587781487 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
| rs587781526 |
ACCCCTAAAGAGATCATAGA>TATT |
Likely-pathogenic |
Splice acceptor variant, intron variant, coding sequence variant, non coding transcript variant |
| rs587781611 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
| rs587781632 |
A>C,T |
Conflicting-interpretations-of-pathogenicity, pathogenic, pathogenic-likely-pathogenic, likely-pathogenic |
Coding sequence variant, missense variant, splice donor variant, stop gained |
| rs587781684 |
A>G |
Conflicting-interpretations-of-pathogenicity, benign, uncertain-significance |
Coding sequence variant, missense variant, intron variant, non coding transcript variant |
| rs587781737 |
T>C,G |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Coding sequence variant, missense variant, intron variant, non coding transcript variant |
| rs587781825 |
GC>- |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
| rs587781916 |
A>G |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Intron variant |
| rs587782143 |
->T |
Pathogenic |
Coding sequence variant, stop gained, non coding transcript variant |
| rs587782173 |
C>A,G,T |
Conflicting-interpretations-of-pathogenicity, pathogenic, likely-pathogenic, uncertain-significance |
Splice donor variant |
| rs587782188 |
T>A,G |
Pathogenic, uncertain-significance |
Coding sequence variant, stop gained, intron variant, missense variant, non coding transcript variant |
| rs587782190 |
A>C,G |
Pathogenic, uncertain-significance |
Coding sequence variant, stop gained, intron variant, missense variant, non coding transcript variant |
| rs587782251 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant, intron variant, non coding transcript variant |
| rs587782392 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
| rs587782458 |
G>A |
Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance |
Coding sequence variant, missense variant, intron variant, non coding transcript variant |
| rs587782606 |
A>G |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Coding sequence variant, missense variant, non coding transcript variant |
| rs587782628 |
T>A |
Pathogenic |
Coding sequence variant, stop gained, intron variant, non coding transcript variant |
| rs587782666 |
ATTT>- |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
| rs587782709 |
C>A |
Pathogenic |
Coding sequence variant, stop gained, intron variant, non coding transcript variant |
| rs587782770 |
C>A,T |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Coding sequence variant, missense variant, intron variant, non coding transcript variant |
| rs587782824 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant, intron variant, non coding transcript variant |
| rs587782834 |
TT>- |
Pathogenic |
Coding sequence variant, frameshift variant, intron variant, non coding transcript variant |
| rs587782879 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
| rs730880287 |
CT>GGC |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
| rs730880288 |
T>-,TT |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
| rs730881439 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant, intron variant, non coding transcript variant |
| rs730881440 |
GT>- |
Pathogenic |
Coding sequence variant, frameshift variant, intron variant, non coding transcript variant |
| rs730881441 |
TCTGCCCA>- |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
| rs730881458 |
AA>- |
Pathogenic |
Coding sequence variant, frameshift variant, intron variant, non coding transcript variant |
| rs730881459 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant, intron variant, non coding transcript variant |
| rs730881461 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant, intron variant, non coding transcript variant |
| rs730881462 |
CATTAATATT>- |
Pathogenic |
Coding sequence variant, frameshift variant, intron variant, non coding transcript variant |
| rs730881468 |
A>C,G,T |
Pathogenic, likely-pathogenic, uncertain-significance |
Coding sequence variant, stop gained, intron variant, missense variant, non coding transcript variant |
| rs730881471 |
C>A,T |
Pathogenic, uncertain-significance |
Coding sequence variant, stop gained, intron variant, missense variant, non coding transcript variant |
| rs730881473 |
C>A,G,T |
Pathogenic, uncertain-significance |
Coding sequence variant, stop gained, intron variant, missense variant, non coding transcript variant |
| rs730881495 |
C>A,G,T |
Pathogenic, likely-pathogenic |
Splice acceptor variant |
| rs730882056 |
GG>- |
Not-provided, pathogenic |
Coding sequence variant, frameshift variant, intron variant, non coding transcript variant |
| rs730882057 |
CT>- |
Not-provided, pathogenic |
Coding sequence variant, frameshift variant, intron variant, non coding transcript variant |
| rs730882164 |
T>A,C |
Pathogenic, uncertain-significance |
Coding sequence variant, stop gained, intron variant, missense variant, non coding transcript variant |
| rs730882165 |
G>A,C,T |
Pathogenic, likely-benign |
Coding sequence variant, stop gained, synonymous variant, non coding transcript variant |
| rs730882166 |
T>C,G |
Pathogenic, likely-pathogenic, uncertain-significance |
Coding sequence variant, missense variant, non coding transcript variant |
| rs730882167 |
T>AAA |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
| rs747539984 |
G>A,T |
Pathogenic, likely-benign |
Coding sequence variant, stop gained, synonymous variant, non coding transcript variant |
| rs747694453 |
T>A,C,G |
Pathogenic, uncertain-significance |
Coding sequence variant, stop gained, missense variant, non coding transcript variant |
| rs748675395 |
T>A,C |
Pathogenic, likely-benign, uncertain-significance |
Coding sequence variant, stop gained, intron variant, missense variant, non coding transcript variant |
| rs748714307 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant, intron variant, non coding transcript variant |
| rs748876625 |
C>A,G |
Likely-pathogenic, uncertain-significance |
Coding sequence variant, missense variant, non coding transcript variant |
| rs749508254 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant, intron variant, non coding transcript variant |
| rs750905289 |
T>C |
Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance |
Intron variant |
| rs752474843 |
TC>- |
Pathogenic |
Coding sequence variant, frameshift variant, intron variant, non coding transcript variant |
| rs753524038 |
->A |
Pathogenic |
Coding sequence variant, stop gained, intron variant, non coding transcript variant |
| rs754792932 |
AGACCAACTC>- |
Pathogenic |
Coding sequence variant, frameshift variant, intron variant, non coding transcript variant |
| rs755427809 |
A>G |
Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance |
Coding sequence variant, 3 prime UTR variant, missense variant, non coding transcript variant |
| rs758515222 |
C>A,T |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Coding sequence variant, synonymous variant, intron variant, non coding transcript variant |
| rs758780152 |
A>T |
Likely-pathogenic, uncertain-significance |
Intron variant |
| rs760188581 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant, intron variant, non coding transcript variant |
| rs760989937 |
C>A |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Intron variant |
| rs762635795 |
C>- |
Likely-pathogenic, pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
| rs765432756 |
T>C |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Coding sequence variant, synonymous variant, non coding transcript variant |
| rs766330646 |
T>C |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Intron variant |
| rs767595162 |
->AC |
Pathogenic |
Intron variant, non coding transcript variant, frameshift variant, coding sequence variant |
| rs768065826 |
T>C,G |
Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity |
Missense variant, non coding transcript variant, synonymous variant, coding sequence variant |
| rs768401297 |
->C |
Pathogenic |
Frameshift variant, non coding transcript variant, terminator codon variant, stop lost, coding sequence variant |
| rs769213707 |
C>A,T |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Non coding transcript variant, synonymous variant, coding sequence variant |
| rs769712441 |
G>A,T |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Missense variant, intron variant, non coding transcript variant, coding sequence variant |
| rs770460699 |
A>- |
Pathogenic |
Intron variant, non coding transcript variant, frameshift variant, coding sequence variant |
| rs772703445 |
T>C |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Missense variant, intron variant, non coding transcript variant, coding sequence variant |
| rs773413634 |
CT>- |
Pathogenic |
Intron variant, non coding transcript variant, frameshift variant, coding sequence variant |
| rs773655919 |
C>A |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Intron variant |
| rs774127304 |
G>A |
Likely-benign, conflicting-interpretations-of-pathogenicity |
3 prime UTR variant, non coding transcript variant, synonymous variant, coding sequence variant |
| rs774593602 |
C>G,T |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Missense variant, non coding transcript variant, coding sequence variant |
| rs774679104 |
T>A,C |
Pathogenic |
Stop gained, missense variant, non coding transcript variant, intron variant, coding sequence variant |
| rs774988515 |
T>- |
Pathogenic |
Intron variant, non coding transcript variant, frameshift variant, coding sequence variant |
| rs775477245 |
A>G |
Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity |
Intron variant, non coding transcript variant, synonymous variant, coding sequence variant |
| rs776323117 |
C>A,T |
Pathogenic |
Stop gained, missense variant, non coding transcript variant, intron variant, coding sequence variant |
| rs777057839 |
C>T |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Non coding transcript variant, synonymous variant, coding sequence variant |
| rs777371832 |
->AT |
Pathogenic |
Intron variant, non coding transcript variant, frameshift variant, coding sequence variant |
| rs781319410 |
A>C,G |
Likely-benign, pathogenic |
Synonymous variant, stop gained, coding sequence variant, intron variant, non coding transcript variant |
| rs786201224 |
G>A |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Coding sequence variant, non coding transcript variant, synonymous variant |
| rs786201256 |
T>C |
Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity |
Coding sequence variant, non coding transcript variant, synonymous variant |
| rs786201634 |
T>C |
Uncertain-significance, benign, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant, intron variant, non coding transcript variant |
| rs786201784 |
C>T |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Synonymous variant, coding sequence variant, intron variant, non coding transcript variant |
| rs786202040 |
TCCTG>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs786202064 |
G>A |
Pathogenic |
Coding sequence variant, non coding transcript variant, stop gained |
| rs786202534 |
C>A,G |
Uncertain-significance, pathogenic |
Missense variant, stop gained, coding sequence variant, intron variant, non coding transcript variant |
| rs786202545 |
T>C |
Pathogenic, likely-pathogenic |
Splice acceptor variant |
| rs786202631 |
C>T |
Pathogenic |
Coding sequence variant, non coding transcript variant, stop gained |
| rs786202684 |
ATTT>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs786202791 |
AT>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs786202898 |
T>C |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant, intron variant, non coding transcript variant |
| rs786202906 |
T>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs786202919 |
TC>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs786202963 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs786202998 |
C>A,T |
Uncertain-significance, pathogenic |
Missense variant, coding sequence variant, non coding transcript variant, stop gained |
| rs786203027 |
G>A,T |
Uncertain-significance, pathogenic |
Missense variant, stop gained, coding sequence variant, intron variant, non coding transcript variant |
| rs786203103 |
->A |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs786203149 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs786203432 |
->T |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs786203438 |
C>A,T |
Uncertain-significance, pathogenic |
Missense variant, stop gained, coding sequence variant, intron variant, non coding transcript variant |
| rs786203523 |
C>A,T |
Uncertain-significance, pathogenic |
Missense variant, stop gained, coding sequence variant, intron variant, non coding transcript variant |
| rs786203526 |
C>- |
Likely-pathogenic |
Coding sequence variant, splice donor variant, intron variant |
| rs786203587 |
C>A |
Pathogenic |
Coding sequence variant, intron variant, non coding transcript variant, stop gained |
| rs786203594 |
T>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs786203663 |
CCACA>TCACT |
Pathogenic |
Missense variant, coding sequence variant, intron variant, non coding transcript variant |
| rs786203689 |
T>C |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant, intron variant, non coding transcript variant |
| rs786203694 |
CTTCCTTTAT>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs786203754 |
A>C,T |
Pathogenic |
Coding sequence variant, non coding transcript variant, stop gained |
| rs786203868 |
G>A,C |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant, non coding transcript variant, synonymous variant |
| rs786203884 |
A>C |
Pathogenic |
Coding sequence variant, intron variant, non coding transcript variant, stop gained |
| rs786203982 |
T>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs786204260 |
C>-,CC |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs786204261 |
GT>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs786204262 |
TACAT>- |
Pathogenic |
Inframe indel, stop gained, coding sequence variant, intron variant, non coding transcript variant |
| rs786204264 |
->A |
Pathogenic |
Coding sequence variant, intron variant, non coding transcript variant, stop gained |
| rs786204267 |
->T |
Likely-pathogenic, pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs794726997 |
C>T |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Synonymous variant, coding sequence variant, intron variant, non coding transcript variant |
| rs794726998 |
A>G |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Synonymous variant, coding sequence variant, intron variant, non coding transcript variant |
| rs794727800 |
A>C,G |
Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant, non coding transcript variant, synonymous variant |
| rs797044631 |
->GGTAGCAACGGTGCTATGCCTAGTAGACTGAGAAGGTATATTG |
Pathogenic, pathogenic-likely-pathogenic |
Inframe indel, stop gained, coding sequence variant, intron variant, non coding transcript variant |
| rs797045175 |
ACAC>- |
Likely-pathogenic, pathogenic |
Coding sequence variant, splice acceptor variant, non coding transcript variant |
| rs863224510 |
->A |
Pathogenic |
Coding sequence variant, intron variant, non coding transcript variant, stop gained |
| rs863224511 |
C>A,T |
Uncertain-significance, pathogenic |
Missense variant, coding sequence variant, non coding transcript variant, stop gained |
| rs863224512 |
T>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs863224753 |
T>C |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant, intron variant, non coding transcript variant |
| rs863224765 |
C>A,G |
Likely-pathogenic, uncertain-significance, pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
| rs864622132 |
->A |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs864622220 |
A>- |
Pathogenic, likely-pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant, 3 prime UTR variant |
| rs864622350 |
->A |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs864622536 |
->T |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs869025213 |
->TT |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs869320776 |
G>- |
Likely-pathogenic, pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs869320786 |
T>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs876658306 |
C>A,G |
Uncertain-significance, pathogenic |
Missense variant, stop gained, coding sequence variant, intron variant, non coding transcript variant |
| rs876658362 |
G>A,C |
Uncertain-significance, pathogenic |
Missense variant, synonymous variant, coding sequence variant, intron variant, non coding transcript variant |
| rs876658381 |
C>A,T |
Uncertain-significance, pathogenic |
Missense variant, coding sequence variant, non coding transcript variant, stop gained |
| rs876658404 |
G>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs876658478 |
T>-,TT |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs876658552 |
C>A,T |
Uncertain-significance, pathogenic |
Missense variant, stop gained, coding sequence variant, intron variant, non coding transcript variant |
| rs876658593 |
C>A |
Pathogenic |
Coding sequence variant, intron variant, non coding transcript variant, stop gained |
| rs876658626 |
A>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs876658672 |
C>T |
Pathogenic |
Coding sequence variant, non coding transcript variant, stop gained |
| rs876658791 |
A>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs876658947 |
->T |
Pathogenic, pathogenic-likely-pathogenic |
Coding sequence variant, non coding transcript variant, stop gained |
| rs876659072 |
T>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs876659108 |
G>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs876659136 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs876659139 |
CTTTA>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs876659196 |
ACT>G |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs876659253 |
ACAT>TG |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs876659293 |
CTTGCCTTGGCAAGTAAGAT>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs876659310 |
GAAAGGCCTTCTGGATTCT>AAA |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs876659327 |
->C |
Likely-pathogenic, pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs876659396 |
->GA |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs876659447 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs876659457 |
T>A |
Pathogenic |
Coding sequence variant, intron variant, non coding transcript variant, stop gained |
| rs876659483 |
G>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs876659591 |
AAATCCTCA>CG |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs876659614 |
G>A,T |
Likely-pathogenic, uncertain-significance, pathogenic |
Missense variant, coding sequence variant, intron variant, stop gained |
| rs876659708 |
C>A,G |
Uncertain-significance, pathogenic |
Missense variant, stop gained, coding sequence variant, intron variant, non coding transcript variant |
| rs876659720 |
G>A,C |
Uncertain-significance, pathogenic |
Missense variant, stop gained, coding sequence variant, intron variant, non coding transcript variant |
| rs876659830 |
G>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs876659852 |
C>A,T |
Uncertain-significance, pathogenic |
Missense variant, stop gained, coding sequence variant, intron variant, non coding transcript variant |
| rs876659867 |
A>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs876659878 |
C>A |
Pathogenic |
Coding sequence variant, non coding transcript variant, stop gained |
| rs876660005 |
G>A,C |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant, intron variant, non coding transcript variant |
| rs876660071 |
T>C |
Uncertain-significance, likely-pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
| rs876660282 |
T>A |
Pathogenic |
Coding sequence variant, intron variant, non coding transcript variant, stop gained |
| rs876660305 |
GT>A |
Pathogenic |
Coding sequence variant, intron variant, non coding transcript variant, stop gained |
| rs876660347 |
G>C |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Intron variant |
| rs876660425 |
->G |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs876660523 |
->C |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs876660558 |
C>A,T |
Uncertain-significance, pathogenic |
Missense variant, stop gained, coding sequence variant, intron variant, non coding transcript variant |
| rs876660601 |
G>A |
Pathogenic |
Coding sequence variant, non coding transcript variant, stop gained |
| rs876660623 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs878853285 |
T>- |
Pathogenic |
Splice acceptor variant |
| rs878853286 |
CCT>ATGTTG |
Pathogenic |
Coding sequence variant, splice donor variant, non coding transcript variant |
| rs878853288 |
C>A |
Pathogenic |
Coding sequence variant, intron variant, non coding transcript variant, stop gained |
| rs878853289 |
->GG |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs878853290 |
->GC |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs878853292 |
->T |
Pathogenic |
Coding sequence variant, intron variant, non coding transcript variant, stop gained |
| rs878853293 |
A>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs878853294 |
C>A,T |
Uncertain-significance, pathogenic |
Missense variant, coding sequence variant, non coding transcript variant, stop gained |
| rs878853296 |
CACC>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant, 3 prime UTR variant |
| rs878854930 |
T>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs878854933 |
CT>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs878854934 |
A>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs878854935 |
->A |
Pathogenic |
Coding sequence variant, intron variant, non coding transcript variant, stop gained |
| rs878854938 |
AT>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs878854940 |
AT>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs878854941 |
T>A,C |
Likely-pathogenic, uncertain-significance, pathogenic |
Missense variant, stop gained, coding sequence variant, intron variant, non coding transcript variant |
| rs878854949 |
G>A,T |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant, intron variant, non coding transcript variant |
| rs878854950 |
T>C |
Pathogenic |
Splice acceptor variant |
| rs878854957 |
G>A,C |
Uncertain-significance, pathogenic |
Missense variant, coding sequence variant, non coding transcript variant, stop gained |
| rs878854963 |
T>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs879253993 |
T>-,TT |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs879254023 |
G>T |
Pathogenic |
Coding sequence variant, intron variant, non coding transcript variant, stop gained |
| rs879254027 |
C>A,T |
Uncertain-significance, pathogenic |
Missense variant, stop gained, coding sequence variant, intron variant, non coding transcript variant |
| rs879254050 |
->GAGT |
Pathogenic, likely-pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs879254116 |
A>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs879254223 |
T>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs879254224 |
AAAGAACAGT>- |
Uncertain-significance, pathogenic-likely-pathogenic |
Intron variant |
| rs879254237 |
GC>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs879255281 |
T>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs879255282 |
->AGGG |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs879255283 |
GT>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs879255287 |
GTGCTACA>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant, 3 prime UTR variant |
| rs879255288 |
T>C,G |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant, non coding transcript variant |
| rs879255293 |
A>C,G,T |
Pathogenic, likely-pathogenic |
Splice donor variant |
| rs879255294 |
G>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs879255295 |
G>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs879255313 |
TT>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs879255314 |
ATTCT>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs879255315 |
T>A,G |
Uncertain-significance, pathogenic |
Missense variant, stop gained, coding sequence variant, intron variant, non coding transcript variant |
| rs879255316 |
A>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs879255317 |
TG>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs879255318 |
->ATTCCAG |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs879255319 |
C>A |
Pathogenic |
Coding sequence variant, non coding transcript variant, stop gained |
| rs879255320 |
T>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs879255476 |
TT>- |
Likely-pathogenic, pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs879255478 |
A>-,AA |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs879255479 |
TTAT>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs879255480 |
->A |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs879255481 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs879255485 |
T>A |
Pathogenic |
Coding sequence variant, non coding transcript variant, stop gained |
| rs879255490 |
CT>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs879255492 |
G>A,C,T |
Uncertain-significance, likely-benign, pathogenic |
Missense variant, stop gained, coding sequence variant, intron variant, non coding transcript variant |
| rs879255495 |
G>A,C |
Uncertain-significance, pathogenic |
Missense variant, coding sequence variant, non coding transcript variant, stop gained |
| rs879255498 |
T>A,C |
Uncertain-significance, pathogenic |
Missense variant, stop gained, coding sequence variant, intron variant, non coding transcript variant |
| rs886037784 |
A>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs886037785 |
TACCT>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886037786 |
->G |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886037787 |
A>T |
Pathogenic |
Coding sequence variant, intron variant, non coding transcript variant, stop gained |
| rs886037788 |
->TCAA |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886037789 |
T>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs886037790 |
A>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs886037972 |
G>A |
Pathogenic |
Coding sequence variant, non coding transcript variant, stop gained |
| rs886037973 |
G>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs886037974 |
TT>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs886037976 |
G>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs886037977 |
A>T |
Pathogenic |
Coding sequence variant, non coding transcript variant, stop gained |
| rs886037978 |
TG>- |
Pathogenic |
Coding sequence variant, non coding transcript variant, stop gained |
| rs886037979 |
G>A,C |
Pathogenic |
Missense variant, coding sequence variant, non coding transcript variant, stop gained |
| rs886037980 |
C>A |
Pathogenic |
Coding sequence variant, intron variant, non coding transcript variant, stop gained |
| rs886037981 |
A>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886037982 |
T>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886037985 |
A>T |
Pathogenic |
Coding sequence variant, intron variant, non coding transcript variant, stop gained |
| rs886037986 |
G>T |
Pathogenic |
Coding sequence variant, intron variant, non coding transcript variant, stop gained |
| rs886037987 |
G>- |
Pathogenic |
Coding sequence variant, intron variant, non coding transcript variant, stop gained |
| rs886037988 |
T>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886037990 |
C>A,T |
Uncertain-significance, pathogenic |
Missense variant, stop gained, coding sequence variant, intron variant, non coding transcript variant |
| rs886037991 |
GA>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886037993 |
CT>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886037994 |
ACTT>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886037995 |
GT>- |
Pathogenic |
Coding sequence variant, intron variant, non coding transcript variant, stop gained |
| rs886037996 |
G>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886037997 |
TGAGATCTTT>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886037998 |
AGTTTGCAAAACCCTTTCTCCACTTAACATGAGAT>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886037999 |
->C |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886038000 |
GAAT>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886038001 |
G>A |
Pathogenic |
Coding sequence variant, intron variant, non coding transcript variant, stop gained |
| rs886038002 |
T>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886038003 |
->CTGC |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886038004 |
CT>- |
Pathogenic |
Coding sequence variant, intron variant, non coding transcript variant, stop gained |
| rs886038005 |
A>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886038006 |
T>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886038007 |
C>A,T |
Uncertain-significance, pathogenic |
Missense variant, stop gained, coding sequence variant, intron variant, non coding transcript variant |
| rs886038008 |
T>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886038009 |
T>A |
Pathogenic |
Coding sequence variant, intron variant, non coding transcript variant, stop gained |
| rs886038010 |
GA>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886038011 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886038012 |
C>A |
Pathogenic |
Coding sequence variant, intron variant, non coding transcript variant, stop gained |
| rs886038013 |
CA>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886038014 |
TAACA>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886038015 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886038016 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886038017 |
CTTT>ATC |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886038018 |
A>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886038019 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886038021 |
G>C |
Pathogenic |
Coding sequence variant, intron variant, non coding transcript variant, stop gained |
| rs886038022 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886038023 |
GCAACGGTGCTATGCCTAGTAGACTGAGAAGGTA>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886038024 |
ATTCTCCT>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886038025 |
A>C |
Pathogenic |
Coding sequence variant, intron variant, non coding transcript variant, stop gained |
| rs886038027 |
A>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886038028 |
C>A |
Pathogenic |
Coding sequence variant, intron variant, non coding transcript variant, stop gained |
| rs886038029 |
T>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886038030 |
->C |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886038032 |
TT>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs886038033 |
->CC |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs886038035 |
->GG |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs886038036 |
A>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs886038037 |
AC>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs886038038 |
G>- |
Pathogenic |
Coding sequence variant, non coding transcript variant, stop gained |
| rs886038040 |
G>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs886038042 |
->T |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs886038043 |
CTGTCCT>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs886038045 |
G>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886038046 |
CA>- |
Pathogenic |
Inframe indel, frameshift variant, stop gained, terminator codon variant, coding sequence variant, stop lost, non coding transcript variant |
| rs886038196 |
A>T |
Likely-pathogenic |
Intron variant |
| rs886039501 |
GTGAGTAATAAACTGCTGTTCTCATGCTGTAA>- |
Pathogenic |
Coding sequence variant, intron variant, non coding transcript variant, stop gained |
| rs886039675 |
G>- |
Likely-pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant, 3 prime UTR variant |
| rs886039920 |
ACAGG>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886039921 |
->G,T |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886039922 |
A>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886039923 |
->GTGA |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886039924 |
TCAC>- |
Pathogenic |
Coding sequence variant, intron variant, non coding transcript variant, stop gained |
| rs886039925 |
TC>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886039926 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886039927 |
T>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886039928 |
TGCTATTT>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886039929 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886039930 |
G>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886039931 |
->A |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886039932 |
CA>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886039933 |
->A |
Pathogenic |
Coding sequence variant, intron variant, non coding transcript variant, stop gained |
| rs886039934 |
->AG |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886039935 |
->GCTA |
Pathogenic |
Inframe indel, stop gained, coding sequence variant, intron variant, non coding transcript variant |
| rs886039936 |
->C |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886039937 |
T>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886039938 |
->A |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886039939 |
G>C,T |
Pathogenic |
Coding sequence variant, intron variant, non coding transcript variant, stop gained |
| rs886039940 |
->C |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886039941 |
GAGGATC>ACTTT |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886039942 |
GTGAACTCTTTCACTTTTA>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886039943 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886039945 |
G>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886039946 |
C>- |
Pathogenic |
Coding sequence variant, intron variant, non coding transcript variant, stop gained |
| rs886039947 |
T>A |
Pathogenic |
Coding sequence variant, intron variant, non coding transcript variant, stop gained |
| rs886039949 |
A>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886039950 |
->A |
Pathogenic |
Frameshift variant, coding sequence variant, 5 prime UTR variant, non coding transcript variant |
| rs886039951 |
->A |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886039952 |
AAGT>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886039953 |
TCAGTTACAT>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886039954 |
CTTTAATTTATTT>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886039955 |
AATT>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886039956 |
A>- |
Pathogenic |
Coding sequence variant, intron variant, non coding transcript variant, stop gained |
| rs886039957 |
A>C,G |
Uncertain-significance, pathogenic |
Missense variant, stop gained, coding sequence variant, intron variant, non coding transcript variant |
| rs886039959 |
CTGCTCCGTT>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886039960 |
AT>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886039961 |
->G |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886039962 |
T>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886039963 |
C>A |
Pathogenic |
Coding sequence variant, intron variant, non coding transcript variant, stop gained |
| rs886039965 |
AGCTTTC>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886039966 |
->T |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886039967 |
CCATATT>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886039968 |
TTTA>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886039969 |
->T |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs886039970 |
G>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886039971 |
->GCGC |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs886039973 |
->C |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886039974 |
G>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886039975 |
->ACTA |
Pathogenic |
Coding sequence variant, intron variant, non coding transcript variant, stop gained |
| rs886039976 |
T>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886039977 |
->GTGGGCTTAGATTT |
Pathogenic |
Inframe indel, stop gained, coding sequence variant, intron variant, non coding transcript variant |
| rs886039978 |
TTTGGTTATATCATTCTTACAT>- |
Pathogenic |
Frameshift variant, splice donor variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886039979 |
ACAAT>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886039980 |
AGTA>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886039981 |
G>A |
Pathogenic |
Coding sequence variant, intron variant, non coding transcript variant, stop gained |
| rs886039982 |
AA>A,T |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886039983 |
TCACTGCT>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886039984 |
C>A |
Pathogenic |
Coding sequence variant, intron variant, non coding transcript variant, stop gained |
| rs886039985 |
TTAT>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886039986 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886039987 |
G>C,T |
Pathogenic |
Coding sequence variant, intron variant, non coding transcript variant, stop gained |
| rs886039988 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886039989 |
->C |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886039990 |
->T |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant |
| rs886039991 |
C>TAT |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886039992 |
->AT |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886039993 |
->T |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886039994 |
AGTA>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886039995 |
->T |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886039996 |
A>-,AA |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886039998 |
->AGTAAAAGAACCAGGTGCAT |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886039999 |
->TC |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886040001 |
AC>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886040002 |
->TG |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886040003 |
GTA>CT |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886040004 |
C>A |
Pathogenic |
Coding sequence variant, intron variant, non coding transcript variant, stop gained |
| rs886040005 |
CTTT>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886040006 |
->C |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886040007 |
CTCTT>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886040008 |
TCTTTTTC>CCTTTTT |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886040009 |
T>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886040010 |
C>TT |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886040012 |
->T |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886040015 |
T>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886040016 |
->T |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886040017 |
CTTTA>TTT |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886040018 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886040019 |
GA>- |
Pathogenic |
Coding sequence variant, intron variant, non coding transcript variant, stop gained |
| rs886040020 |
->A |
Pathogenic |
Coding sequence variant, intron variant, non coding transcript variant, stop gained |
| rs886040022 |
CAATGAA>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886040023 |
->G |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886040024 |
AC>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886040025 |
A>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886040026 |
TCCT>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886040027 |
->A |
Likely-pathogenic, pathogenic, pathogenic-likely-pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886040028 |
T>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886040029 |
TG>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886040030 |
A>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs886040031 |
->G |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886040032 |
GAC>AA |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs886040033 |
T>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886040034 |
TGACTCACACATTT>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886040035 |
T>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886040036 |
->T |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886040038 |
->A |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886040039 |
A>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs886040040 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886040041 |
TACTTAAAGCCTTCTG>CA |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886040042 |
T>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886040043 |
CTTA>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886040044 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886040045 |
->C |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886040046 |
TT>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886040047 |
ATGCT>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886040048 |
ATT>C |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886040049 |
TTCC>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886040050 |
TT>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886040051 |
->TT |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886040052 |
->AA |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886040053 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886040054 |
A>C,T |
Uncertain-significance, pathogenic |
Missense variant, coding sequence variant, non coding transcript variant, stop gained |
| rs886040056 |
T>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886040057 |
->TGCC |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886040058 |
TT>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886040059 |
->T |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886040060 |
->T |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886040061 |
GGACTTTGTTT>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886040062 |
GACTTTG>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886040064 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886040065 |
CA>- |
Pathogenic |
Inframe indel, stop gained, coding sequence variant, intron variant, non coding transcript variant |
| rs886040066 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886040067 |
A>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886040068 |
G>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886040069 |
GCT>TG |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886040070 |
TG>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886040071 |
->AT |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886040072 |
->A,TA |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886040073 |
->AAAAGCCTGCAGTGATA |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886040074 |
T>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886040075 |
A>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886040076 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886040077 |
->G |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886040078 |
TAGA>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886040079 |
->A |
Likely-pathogenic, pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886040080 |
T>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886040081 |
CC>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886040082 |
T>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886040083 |
->AG |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886040084 |
TAT>AG |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886040085 |
T>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886040086 |
AAAG>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886040088 |
->T |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886040089 |
A>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886040090 |
T>A |
Pathogenic |
Coding sequence variant, intron variant, non coding transcript variant, stop gained |
| rs886040091 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886040092 |
AAAG>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886040093 |
TTGA>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886040094 |
->C |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886040095 |
->ATCTCATTTCCCATTTCTCTTTCAGGTGACATTGAATGTTCCTCAAAGTTTTCCTGTGCTCACTGTACTTGGAATG |
Pathogenic |
Inframe indel, stop gained, coding sequence variant, intron variant, non coding transcript variant |
| rs886040096 |
->A |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886040097 |
T>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs886040098 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886040099 |
GGCT>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886040100 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886040101 |
A>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886040102 |
AATG>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886040103 |
G>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886040104 |
->T |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886040105 |
->CT |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886040106 |
CC>- |
Pathogenic |
Coding sequence variant, intron variant, non coding transcript variant, stop gained |
| rs886040107 |
T>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886040108 |
TCAGGTTGCAAAACCC>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886040109 |
A>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886040110 |
A>T |
Pathogenic |
Coding sequence variant, intron variant, non coding transcript variant, stop gained |
| rs886040111 |
A>C |
Pathogenic |
Coding sequence variant, intron variant, non coding transcript variant, stop gained |
| rs886040112 |
->T |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs886040113 |
->G |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886040114 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs886040115 |
TCTTG>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886040116 |
G>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886040117 |
CAT>- |
Pathogenic |
Inframe indel, stop gained, coding sequence variant, intron variant, non coding transcript variant |
| rs886040118 |
TCTGTATTAAC>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886040119 |
T>-,TT |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs886040120 |
->A |
Pathogenic |
Coding sequence variant, intron variant, non coding transcript variant, stop gained |
| rs886040121 |
->A |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886040122 |
CTGAAATC>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886040123 |
A>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886040124 |
T>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886040125 |
G>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886040126 |
C>A |
Pathogenic |
Coding sequence variant, intron variant, non coding transcript variant, stop gained |
| rs886040128 |
ATGCATGACTAC>G |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886040129 |
A>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs886040130 |
A>C |
Pathogenic |
Coding sequence variant, intron variant, non coding transcript variant, stop gained |
| rs886040132 |
CCTTT>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886040133 |
ACTAGTATCTT>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886040134 |
GTAT>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886040135 |
AGTATCT>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886040136 |
CAGCAAAACTA>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886040137 |
A>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886040138 |
->T |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886040139 |
T>-,TT |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886040140 |
G>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886040141 |
AC>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886040142 |
T>A |
Pathogenic |
Coding sequence variant, non coding transcript variant, stop gained |
| rs886040143 |
->C |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886040144 |
CT>A |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs886040145 |
T>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886040146 |
TATGGGTG>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886040147 |
TGTGTATG>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886040148 |
->G |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886040150 |
A>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886040151 |
->T |
Pathogenic |
Coding sequence variant, intron variant, non coding transcript variant, stop gained |
| rs886040152 |
->C |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs886040153 |
->T |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886040154 |
->T |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886040155 |
CT>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs886040156 |
AGGA>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886040157 |
->A |
Pathogenic |
Coding sequence variant, intron variant, non coding transcript variant, stop gained |
| rs886040158 |
A>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886040159 |
G>A |
Pathogenic |
Coding sequence variant, intron variant, non coding transcript variant, stop gained |
| rs886040160 |
G>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs886040161 |
GTGCTATG>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886040162 |
AACGGTGCTATGC>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886040163 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886040164 |
TAGAC>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886040165 |
G>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886040166 |
G>A,T |
Likely-benign, pathogenic |
Synonymous variant, stop gained, coding sequence variant, intron variant, non coding transcript variant |
| rs886040167 |
->A |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886040168 |
AGAT>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886040169 |
CTGAG>- |
Pathogenic |
Coding sequence variant, intron variant, non coding transcript variant, stop gained |
| rs886040170 |
TTCCTGAGATG>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886040171 |
CC>G |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs886040172 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886040174 |
CA>ACT,CACA |
Pathogenic |
Frameshift variant, stop gained, coding sequence variant, intron variant, non coding transcript variant |
| rs886040175 |
A>-,AA |
Pathogenic |
Frameshift variant, stop gained, coding sequence variant, intron variant, non coding transcript variant |
| rs886040176 |
->T |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886040177 |
AAAG>- |
Pathogenic |
Coding sequence variant, intron variant, non coding transcript variant, stop gained |
| rs886040178 |
TCAA>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886040179 |
G>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886040180 |
A>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886040181 |
ATTT>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886040182 |
CTC>TT |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886040183 |
TTC>GAAA |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886040184 |
GGCT>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886040185 |
AACTCCC>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886040187 |
->AA |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886040188 |
C>A |
Pathogenic |
Coding sequence variant, intron variant, non coding transcript variant, stop gained |
| rs886040189 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886040191 |
C>A |
Pathogenic |
Coding sequence variant, intron variant, non coding transcript variant, stop gained |
| rs886040192 |
GATTA>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886040193 |
G>A |
Pathogenic |
Coding sequence variant, intron variant, non coding transcript variant, stop gained |
| rs886040194 |
G>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886040195 |
C>A |
Pathogenic |
Coding sequence variant, intron variant, non coding transcript variant, stop gained |
| rs886040197 |
T>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886040198 |
TGAATCCATGCTTTGCT>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886040199 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886040200 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs886040202 |
->AGAT |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs886040203 |
TAGA>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs886040204 |
A>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs886040205 |
A>-,AA |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs886040206 |
GTTT>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs886040207 |
G>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs886040208 |
T>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs886040209 |
CA>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs886040210 |
TG>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs886040211 |
A>- |
Pathogenic |
Coding sequence variant, non coding transcript variant, stop gained |
| rs886040212 |
->T |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs886040213 |
GG>A,G |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs886040214 |
T>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs886040215 |
AT>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs886040216 |
T>A |
Pathogenic |
Coding sequence variant, non coding transcript variant, stop gained |
| rs886040217 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs886040218 |
G>A |
Pathogenic |
Coding sequence variant, non coding transcript variant, stop gained |
| rs886040219 |
T>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs886040220 |
G>A |
Pathogenic |
Coding sequence variant, non coding transcript variant, stop gained |
| rs886040221 |
AG>C |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs886040222 |
ATGGAAG>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs886040223 |
A>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs886040225 |
->T |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs886040226 |
G>A,C |
Uncertain-significance, pathogenic |
Missense variant, coding sequence variant, non coding transcript variant, stop gained |
| rs886040227 |
A>C |
Pathogenic |
Coding sequence variant, non coding transcript variant, stop gained |
| rs886040228 |
T>A |
Pathogenic |
Coding sequence variant, non coding transcript variant, stop gained |
| rs886040229 |
->T |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs886040230 |
C>A |
Pathogenic |
Coding sequence variant, non coding transcript variant, stop gained |
| rs886040231 |
A>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs886040232 |
CTGGTTCTTTATTTTTACTGGT>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs886040233 |
G>A,T |
Likely-benign, pathogenic |
Coding sequence variant, non coding transcript variant, synonymous variant, stop gained |
| rs886040234 |
G>C,T |
Pathogenic |
Coding sequence variant, non coding transcript variant, stop gained |
| rs886040235 |
->GG |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs886040236 |
AGAT>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs886040237 |
G>A |
Pathogenic |
Coding sequence variant, non coding transcript variant, stop gained |
| rs886040238 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs886040239 |
->A |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs886040240 |
CTTC>TTT |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs886040241 |
CT>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs886040242 |
->T |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs886040243 |
->T |
Pathogenic |
Coding sequence variant, non coding transcript variant, stop gained |
| rs886040244 |
GGCTGATTCC>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs886040245 |
GAGGCTGATTC>T |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs886040246 |
T>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs886040247 |
->T |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs886040248 |
G>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs886040249 |
G>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs886040251 |
A>T |
Pathogenic |
Coding sequence variant, non coding transcript variant, stop gained |
| rs886040252 |
T>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs886040253 |
->A |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs886040254 |
C>-,CC |
Uncertain-significance, pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs886040255 |
ACTTTCT>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs886040257 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs886040258 |
GT>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs886040259 |
->T |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs886040260 |
G>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs886040263 |
T>A,C |
Uncertain-significance, pathogenic |
Missense variant, coding sequence variant, non coding transcript variant, stop gained |
| rs886040264 |
->TAAT |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs886040265 |
G>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs886040266 |
TCTTC>A |
Pathogenic |
Coding sequence variant, non coding transcript variant, stop gained |
| rs886040267 |
->GTTG |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs886040268 |
->T |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs886040269 |
A>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs886040270 |
->C |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs886040271 |
AATTCCTA>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs886040272 |
T>A,G |
Uncertain-significance, pathogenic |
Missense variant, coding sequence variant, non coding transcript variant, stop gained |
| rs886040274 |
ACTGG>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs886040275 |
->G |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs886040276 |
G>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs886040277 |
TGGACCTTGGTGGTTTCTTCCATTGACCACATCTCCTCTG>GA |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs886040278 |
->T |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs886040279 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs886040280 |
TGAC>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs886040281 |
GGTTTCTT>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs886040282 |
G>-,GG |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs886040284 |
->G |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs886040285 |
A>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs886040286 |
A>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs886040287 |
CA>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs886040288 |
A>T |
Pathogenic |
Coding sequence variant, non coding transcript variant, stop gained |
| rs886040289 |
A>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs886040290 |
A>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs886040291 |
TTC>CA |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886040292 |
A>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886040293 |
->GT |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886040294 |
CA>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886040295 |
->A |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886040297 |
TCTCGGGTCACCACAGGTGCCTCAC>- |
Pathogenic |
Frameshift variant, terminator codon variant, coding sequence variant, 3 prime UTR variant, stop lost, non coding transcript variant |
| rs886040298 |
->AA |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant, 3 prime UTR variant |
| rs886040300 |
CTCG>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant, 3 prime UTR variant |
| rs886040301 |
G>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant, 3 prime UTR variant |
| rs886040302 |
GTCCAGCTCCTGGCACTGGT>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant, 3 prime UTR variant |
| rs886040303 |
G>A |
Pathogenic |
Coding sequence variant, non coding transcript variant, stop gained, 3 prime UTR variant |
| rs886040304 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant, 3 prime UTR variant |
| rs886040305 |
GTAGG>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant, 3 prime UTR variant |
| rs886040306 |
G>- |
Pathogenic |
Coding sequence variant, non coding transcript variant, stop gained, 3 prime UTR variant |
| rs886040308 |
GTCT>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs886040310 |
T>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs886040311 |
G>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs886040313 |
G>A |
Pathogenic |
Coding sequence variant, non coding transcript variant, stop gained |
| rs886040314 |
->TACTGGGTTGATGATGTTCAGTATTTGTTAC |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs886040315 |
->T |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs886040316 |
TC>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs886040317 |
->T,TT |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs886040318 |
G>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs886040319 |
->C |
Pathogenic |
Frameshift variant, coding sequence variant, splice donor variant, non coding transcript variant |
| rs886040320 |
->GCTCCACATGC |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886040321 |
C>A |
Pathogenic |
Coding sequence variant, intron variant, non coding transcript variant, stop gained |
| rs886040322 |
->GATCCACATG |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886040323 |
TT>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886040324 |
AGTATTTG>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886040325 |
->T |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886040326 |
->GT |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886040327 |
T>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886040328 |
->T |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886040329 |
G>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886040330 |
C>A,T |
Uncertain-significance, pathogenic |
Missense variant, stop gained, coding sequence variant, intron variant, non coding transcript variant |
| rs886040331 |
GC>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886040332 |
G>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886040333 |
T>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886040334 |
T>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886040335 |
C>T |
Pathogenic |
Coding sequence variant, intron variant, non coding transcript variant, stop gained |
| rs886040336 |
A>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886040337 |
T>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886040338 |
GACAGGTT>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886040864 |
C>G,T |
Uncertain-significance, pathogenic, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant, non coding transcript variant |
| rs886040865 |
TGGACACC>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs886040895 |
->CCCTAGTAGACTGAGAAGGTATATTGTTTACTTTACCAAATAACAAGTGT |
Pathogenic |
Inframe indel, stop gained, coding sequence variant, intron variant, non coding transcript variant |
| rs886040896 |
->AGTTAGAAGGCTGGCTCCCATGCTGTTCTAACACAGCTT |
Pathogenic |
Coding sequence variant, non coding transcript variant, stop gained |
| rs886040897 |
ATGGAGGAAAAAATCCAAAGCACTAGAATTT>CC |
Pathogenic |
Intron variant |
| rs886040898 |
A>C,T |
Likely-pathogenic, pathogenic |
Missense variant, stop gained, coding sequence variant, intron variant, non coding transcript variant |
| rs886040899 |
CA>T |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886040903 |
T>C |
Likely-pathogenic, uncertain-significance, pathogenic |
Intron variant |
| rs886040907 |
AATACACACC>- |
Pathogenic |
Coding sequence variant, splice donor variant, intron variant, non coding transcript variant |
| rs886040909 |
A>T |
Pathogenic |
Intron variant |
| rs886040910 |
C>A,G,T |
Likely-pathogenic, uncertain-significance, pathogenic |
Intron variant |
| rs886040911 |
T>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs886040912 |
T>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs886040913 |
T>- |
Likely-pathogenic, pathogenic |
Splice acceptor variant |
| rs886040914 |
A>C,G,T |
Likely-pathogenic, pathogenic |
Splice donor variant |
| rs886040915 |
A>C |
Pathogenic |
Splice donor variant |
| rs886040916 |
TGTGGGCATGTTGGTGAAGGGCC>- |
Pathogenic |
Coding sequence variant, splice donor variant, non coding transcript variant |
| rs886040917 |
TCTTACCT>ATGTTG |
Pathogenic |
Coding sequence variant, splice donor variant, intron variant, non coding transcript variant |
| rs886040918 |
C>- |
Pathogenic |
Coding sequence variant, splice donor variant, non coding transcript variant |
| rs886040919 |
T>A |
Pathogenic |
Intron variant |
| rs886040920 |
G>- |
Uncertain-significance, pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs886040921 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs886040922 |
C>- |
Uncertain-significance, pathogenic |
Coding sequence variant, splice donor variant, non coding transcript variant |
| rs886041002 |
->A |
Pathogenic |
Intron variant |
| rs932782447 |
C>T |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Intron variant |
| rs959797914 |
C>T |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Missense variant, non coding transcript variant, coding sequence variant |
| rs1057517574 |
G>A,T |
Pathogenic, likely-pathogenic, likely-benign |
Coding sequence variant, non coding transcript variant, synonymous variant, stop gained |
| rs1057517590 |
A>- |
Likely-pathogenic, pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs1057517637 |
->C |
Likely-pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs1057518636 |
->A |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs1057518639 |
A>G |
Likely-pathogenic, pathogenic-likely-pathogenic, uncertain-significance |
Coding sequence variant, non coding transcript variant, missense variant |
| rs1057519558 |
C>A,G,T |
Likely-pathogenic, pathogenic, uncertain-significance |
Coding sequence variant, non coding transcript variant, missense variant, stop gained |
| rs1057524456 |
A>G |
Conflicting-interpretations-of-pathogenicity |
Intron variant |
| rs1060502326 |
T>C |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Intron variant |
| rs1060502327 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant, splice acceptor variant, non coding transcript variant |
| rs1060502332 |
A>TT |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant, intron variant |
| rs1060502333 |
T>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant, intron variant |
| rs1060502334 |
A>T |
Pathogenic |
Coding sequence variant, non coding transcript variant, intron variant, stop gained |
| rs1060502345 |
GAT>A |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant, intron variant |
| rs1060502354 |
GTACCAA>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant, intron variant |
| rs1060502356 |
ACCTTT>- |
Likely-pathogenic, pathogenic |
Non coding transcript variant, coding sequence variant, intron variant, splice donor variant |
| rs1060502359 |
GTCT>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant, intron variant |
| rs1060502360 |
G>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs1060502362 |
GTTGGACA>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs1060504564 |
C>A,T |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Intron variant |
| rs1060504568 |
T>C |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Coding sequence variant, non coding transcript variant, intron variant, synonymous variant |
| rs1060504574 |
T>C |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Coding sequence variant, non coding transcript variant, synonymous variant |
| rs1060505044 |
T>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs1060505045 |
T>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant, intron variant |
| rs1060505047 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant, intron variant |
| rs1060505048 |
T>- |
Pathogenic |
3 prime UTR variant, frameshift variant, coding sequence variant, non coding transcript variant |
| rs1060505050 |
CA>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant, intron variant |
| rs1060505051 |
AAGTT>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant, intron variant |
| rs1060505052 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs1064792958 |
CAAGTTTGAAAC>T |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant, intron variant |
| rs1064793054 |
TGT>AGA |
Pathogenic |
Coding sequence variant, non coding transcript variant, stop gained |
| rs1064793059 |
AG>- |
Pathogenic |
3 prime UTR variant, frameshift variant, coding sequence variant, non coding transcript variant |
| rs1064793468 |
->ACCCC |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant, intron variant |
| rs1064793577 |
A>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs1064793746 |
A>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs1064793951 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs1064793967 |
ACATTC>GA |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant, intron variant |
| rs1064794004 |
TACC>CTCATCTAATGATGGGCA |
Pathogenic |
Inframe indel, coding sequence variant, non coding transcript variant, stop gained |
| rs1064794016 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant, intron variant |
| rs1064794177 |
ACTT>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant, intron variant |
| rs1064794467 |
TC>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs1064794662 |
G>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant, intron variant |
| rs1064794864 |
A>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant, intron variant |
| rs1064795446 |
T>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant, intron variant |
| rs1064795600 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant, intron variant |
| rs1064795769 |
T>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant, intron variant |
| rs1064795775 |
G>- |
Pathogenic |
Coding sequence variant, non coding transcript variant, intron variant, stop gained |
| rs1064795840 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant, intron variant |
| rs1064797381 |
->T |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant, intron variant |
| rs1085307902 |
G>A |
Pathogenic |
Coding sequence variant, non coding transcript variant, stop gained |
| rs1085308034 |
T>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant, intron variant |
| rs1131692065 |
T>A,G |
Pathogenic, benign |
Synonymous variant, intron variant, coding sequence variant, stop gained, non coding transcript variant |
| rs1131692162 |
C>A |
Pathogenic |
Coding sequence variant, non coding transcript variant, stop gained |
| rs1135401829 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs1135401836 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs1135401837 |
TTGTT>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs1135401838 |
TCTTT>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant, intron variant |
| rs1135401839 |
A>- |
Likely-pathogenic, pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant, intron variant |
| rs1135401840 |
->T |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant, intron variant |
| rs1135401841 |
TGCT>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant, intron variant |
| rs1135401843 |
->T |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant, intron variant |
| rs1135401845 |
->C |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant, intron variant |
| rs1135401846 |
GTAATATTC>T |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant, intron variant |
| rs1135401847 |
->C |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant, intron variant |
| rs1135401848 |
T>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant, intron variant |
| rs1135401849 |
GTTGTAC>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant, intron variant |
| rs1135401850 |
T>A,C |
Pathogenic, uncertain-significance |
Intron variant, missense variant, coding sequence variant, stop gained, non coding transcript variant |
| rs1135401851 |
->T |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant, intron variant |
| rs1135401852 |
A>T |
Pathogenic |
Coding sequence variant, non coding transcript variant, intron variant, stop gained |
| rs1135401853 |
->T |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant, intron variant |
| rs1135401855 |
GAATG>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant, intron variant |
| rs1135401856 |
GGAA>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant, intron variant |
| rs1135401857 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant, intron variant |
| rs1135401858 |
->T |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant, intron variant |
| rs1135401859 |
AGCAT>- |
Pathogenic |
Coding sequence variant, non coding transcript variant, intron variant, stop gained |
| rs1135401860 |
->C |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant, intron variant |
| rs1135401864 |
C>A |
Pathogenic |
Coding sequence variant, non coding transcript variant, intron variant, stop gained |
| rs1135401865 |
AGGTA>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant, intron variant |
| rs1135401866 |
GA>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant, intron variant |
| rs1135401867 |
TTCTC>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant, intron variant |
| rs1135401868 |
T>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant, intron variant |
| rs1135401869 |
->G |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant, intron variant |
| rs1135401870 |
A>-,AA |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant, intron variant |
| rs1135401871 |
AC>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant, intron variant |
| rs1135401873 |
->C |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs1135401874 |
G>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs1135401877 |
AATGA>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs1135401878 |
->T |
Pathogenic |
Coding sequence variant, non coding transcript variant |
| rs1135401879 |
->TT |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs1135401880 |
CA>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, intron variant, splice donor variant |
| rs1135401881 |
G>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs1135401882 |
A>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs1135401883 |
->G |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs1135401887 |
->TC |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs1135401888 |
AC>- |
Pathogenic |
3 prime UTR variant, frameshift variant, coding sequence variant, non coding transcript variant |
| rs1135401932 |
A>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs1135401933 |
->C |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs1135401935 |
AA>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs1135401936 |
->G |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs1171571879 |
C>T |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Coding sequence variant, non coding transcript variant, intron variant, synonymous variant |
| rs1173155015 |
C>A,T |
Likely-pathogenic |
Coding sequence variant, non coding transcript variant, missense variant, stop gained |
| rs1265352633 |
A>G |
Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity |
Coding sequence variant, non coding transcript variant, missense variant |
| rs1351019392 |
C>A,T |
Likely-pathogenic, uncertain-significance |
Intron variant, splice acceptor variant |
| rs1401324575 |
T>A,C |
Pathogenic, uncertain-significance |
Non coding transcript variant, intron variant, coding sequence variant, stop gained, missense variant |
| rs1432504119 |
T>A,C |
Pathogenic |
Stop gained, non coding transcript variant, intron variant, missense variant, coding sequence variant |
| rs1484076591 |
C>- |
Pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1555574355 |
A>- |
Conflicting-interpretations-of-pathogenicity |
Non coding transcript variant, 3 prime UTR variant, frameshift variant, coding sequence variant |
| rs1555574384 |
->C |
Pathogenic |
Non coding transcript variant, stop gained, 3 prime UTR variant, coding sequence variant |
| rs1555574411 |
->TCCAACACCCACTCTCGGGTCACCACAGGTGCCTCACACATCTGCCCAATTGCTGGAGACAGAG |
Pathogenic |
Intron variant, coding sequence variant, splice acceptor variant, 3 prime UTR variant, terminator codon variant, non coding transcript variant |
| rs1555574414 |
C>- |
Pathogenic |
Non coding transcript variant, 3 prime UTR variant, frameshift variant, coding sequence variant |
| rs1555574436 |
->AA |
Pathogenic |
Non coding transcript variant, 3 prime UTR variant, frameshift variant, coding sequence variant |
| rs1555574698 |
->A |
Pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant |
| rs1555574705 |
G>A |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Stop gained, non coding transcript variant, synonymous variant, coding sequence variant |
| rs1555574722 |
->TC |
Pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant |
| rs1555574739 |
->A |
Pathogenic, pathogenic-likely-pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant |
| rs1555574977 |
GTTGGCCAGGCTGGTCTCAAACTCCTGACAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGACATGAGCCACCATGCCCAGCCTCCAGCCCATCATTTCTTGATGATTTGTTGAAACACAGTATGCTGGGGCAGTCACAGAGAGGAGGGGGAGGGACATATGGGAAAAAGAGTTAGAGGGAAAAAGTCTTCCCTCAGTATATTTAATATGTGCAGTTCTCAAATCCTTACCCATCCCTTACAG |
Pathogenic |
Intron variant, coding sequence variant, splice donor variant, splice acceptor variant, non coding transcript variant |
| rs1555575073 |
TACT>- |
Conflicting-interpretations-of-pathogenicity |
Splice donor variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1555575109 |
GAAAGCTCCTTCACCACAGAAGCACCACACAGCTGTACCATCCATTCCAGTTGATCTAAAATGGACATTTAGATGTAAAATCACTGCAGTAATCTGCATACTTAACCCAGGCCCTCTACCCTACACTCTCCGGATGAAGGCTTATAGCAAGACCTCTCAATGGGAGAGTCTGTCTCTCTGCTCCAAAGGACAATGGTCTTAAAATAGTAGGGGTATGGATTTTAAGTCAATTTGCCACTGATATGCCATGTAC>- |
Pathogenic |
Non coding transcript variant, intron variant, splice acceptor variant, coding sequence variant |
| rs1555575142 |
GC>T |
Pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1555575231 |
AAATCACTGCAGTAA>- |
Pathogenic |
Intron variant |
| rs1555575677 |
CTGTGGGCATGTTGGTGAAGGGCCCATAGCAACAGATTTCTAGCCCCCTGAAGA>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, inframe indel |
| rs1555575732 |
->T |
Pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant |
| rs1555576840 |
->G |
Pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant |
| rs1555576868 |
C>- |
Pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant |
| rs1555576871 |
->GA |
Pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant |
| rs1555576878 |
->GA |
Pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant |
| rs1555576907 |
T>- |
Pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant |
| rs1555576921 |
->GGTTTCTTCCATTGACCACATCTCCTCTGACTTCAAAATCATGCTGAAAGAAA |
Pathogenic |
Non coding transcript variant, intron variant, splice acceptor variant, coding sequence variant |
| rs1555576959 |
CT>- |
Pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant |
| rs1555576963 |
T>C |
Conflicting-interpretations-of-pathogenicity |
Non coding transcript variant, synonymous variant, coding sequence variant |
| rs1555576964 |
->G |
Pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant |
| rs1555576968 |
->G |
Pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant |
| rs1555576982 |
->G |
Pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant |
| rs1555576990 |
CATGC>AATA |
Pathogenic |
Non coding transcript variant, splice acceptor variant, coding sequence variant |
| rs1555578360 |
->T |
Pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant |
| rs1555578376 |
->G |
Pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant |
| rs1555578398 |
GTCAC>TTT |
Pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant |
| rs1555578402 |
->TCAC |
Pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant |
| rs1555578407 |
->TATT |
Pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant |
| rs1555578539 |
AGAAATAGCTAACTACCCATTTTCCTCCCGCAATTCCTAGAAAATATTTCAGTGTCCGTTCACACACAAACTCAGCAT>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, inframe indel |
| rs1555578542 |
->G |
Pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant |
| rs1555578613 |
A>- |
Pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant |
| rs1555578648 |
->C |
Pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant |
| rs1555578650 |
C>- |
Pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant |
| rs1555579630 |
->GTTG |
Pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant |
| rs1555579633 |
C>- |
Pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant |
| rs1555579675 |
->TTAA |
Pathogenic |
Stop gained, non coding transcript variant, coding sequence variant |
| rs1555579686 |
->ATTA |
Pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant |
| rs1555579721 |
->A |
Pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant |
| rs1555579738 |
->G |
Pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant |
| rs1555579747 |
->GGCAAACTTGTAC |
Pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant |
| rs1555579748 |
->G |
Pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant |
| rs1555579782 |
->TA |
Pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant |
| rs1555580601 |
->A |
Pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant |
| rs1555580648 |
TGACCCTTTCTGTTGAAGCTGTCAATTCTGGCTTCTCCCTGCTCACACTTTCTTCCATTGCATTATACCCAGCAGTATCAGT>- |
Pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant |
| rs1555580653 |
->TT |
Pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant |
| rs1555580678 |
GTCAATTCTGGCTTCTCCC>- |
Pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant |
| rs1555580697 |
C>-,CC |
Pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant |
| rs1555580773 |
CAGCAGTATC>- |
Likely-pathogenic, pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant |
| rs1555580813 |
->G |
Pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant |
| rs1555580840 |
TG>- |
Likely-pathogenic, pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant |
| rs1555580854 |
->A |
Pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant |
| rs1555580865 |
->C |
Pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant |
| rs1555580883 |
T>- |
Pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant |
| rs1555580900 |
G>- |
Likely-pathogenic, pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant |
| rs1555580912 |
T>- |
Pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant |
| rs1555580980 |
->T |
Pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant |
| rs1555581017 |
AGGA>- |
Pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant |
| rs1555581078 |
->T |
Pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant |
| rs1555581087 |
TCCAGGT>C |
Pathogenic |
Stop gained, non coding transcript variant, coding sequence variant, inframe indel |
| rs1555581104 |
CC>- |
Pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant |
| rs1555581778 |
TCTTGCCTTGGCAAGTAAGATGTTTCCGTCAAATCGTGTGGCCCAGACTCTTCCAGCTGTTGCTCCTCCACATCAACAACCTTAATGAGCTCCTCTTGAGATGGGTAGTTTCTATTCTGAAGACTCCCAGAGCAACTGTGCATGTACCACCTATCATCTAATGATGGGCATTTAGAAGGGGATGACCTAGA>- |
Pathogenic |
Intron variant, coding sequence variant, splice donor variant, splice acceptor variant, non coding transcript variant |
| rs1555581812 |
G>A |
Pathogenic |
Stop gained, non coding transcript variant, coding sequence variant |
| rs1555581824 |
->G |
Pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant |
| rs1555581874 |
->A |
Pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant |
| rs1555581879 |
->C |
Pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant |
| rs1555581882 |
->GG |
Pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant |
| rs1555581894 |
->GA |
Pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant |
| rs1555581948 |
->GG |
Pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant |
| rs1555582009 |
->T |
Likely-pathogenic, pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant |
| rs1555582069 |
G>- |
Pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant |
| rs1555582082 |
A>- |
Pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant |
| rs1555582520 |
A>G |
Pathogenic |
Splice donor variant |
| rs1555582663 |
->T |
Pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant |
| rs1555582670 |
->A |
Pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant |
| rs1555582723 |
T>C |
Uncertain-significance, likely-pathogenic |
Intron variant, splice acceptor variant |
| rs1555584110 |
->C |
Pathogenic |
Stop gained, non coding transcript variant, coding sequence variant |
| rs1555584118 |
->A |
Pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant |
| rs1555584122 |
->C |
Pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant |
| rs1555584125 |
T>- |
Pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant |
| rs1555584178 |
->A |
Pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant |
| rs1555584251 |
A>- |
Likely-pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant |
| rs1555584262 |
->CC |
Pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant |
| rs1555586010 |
GATACATACTACTGAATGCAAAGGACACCACACACACGCATGTGCACACACACACACGCTTTTTACCTGAGTGGTTAAAATGTCACTCTGAGAGGATAGCCCTGAGCAGTCTTCAGAGACGCTTGTTTCACTCTCACACCCAGATGCTGCTTCACCTTAAATAACAAAAACAGAGGTTCAGATGTAAAAGCAGACTATAAACGCTGCAACTTGCTGTGTCTTTTTCTTCTCATTGG>- |
Pathogenic |
Intron variant, coding sequence variant, splice donor variant, splice acceptor variant, non coding transcript variant |
| rs1555586100 |
->TC |
Pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant |
| rs1555586103 |
TC>- |
Pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant |
| rs1555586212 |
->AA |
Pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant |
| rs1555586240 |
->AGAT |
Pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant |
| rs1555586260 |
->GATA |
Pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant |
| rs1555586517 |
->AATC |
Pathogenic |
Intron variant, coding sequence variant, inframe indel, stop gained, non coding transcript variant |
| rs1555586564 |
->C |
Pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1555586639 |
->AA |
Pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1555586879 |
CAGAACAT>- |
Pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1555586891 |
->G |
Pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1555586983 |
T>- |
Pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1555586989 |
->A |
Pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1555587013 |
->A |
Pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1555587063 |
->T |
Pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1555587113 |
->AA |
Pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1555587135 |
GA>- |
Pathogenic |
Intron variant, stop gained, non coding transcript variant, coding sequence variant |
| rs1555587165 |
->G |
Pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1555587185 |
->G |
Pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1555587210 |
->CCTAGTAGACTGAGAAGGTATATTGTTTACTTTACCAAATAACAAGTGTC |
Pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1555587316 |
CT>- |
Pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1555587333 |
TAGAT>- |
Pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1555587337 |
->T |
Pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1555587345 |
->A |
Not-provided, pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1555587356 |
CTTCT>- |
Pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1555587365 |
C>- |
Pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1555587401 |
C>- |
Pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1555587442 |
T>- |
Pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1555587464 |
->A |
Pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1555587476 |
->TT |
Pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1555587497 |
G>- |
Pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1555587537 |
->TC |
Pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1555587573 |
->T |
Pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1555587588 |
AACTAGTATCTTC>- |
Pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1555587638 |
T>-,TT |
Likely-pathogenic, pathogenic |
Intron variant, coding sequence variant, frameshift variant, stop gained, non coding transcript variant |
| rs1555587718 |
C>- |
Pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1555587739 |
->C |
Pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1555587781 |
GTTCT>- |
Pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1555587944 |
C>- |
Likely-pathogenic, pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1555587972 |
G>- |
Pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1555587980 |
->G |
Pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1555587988 |
->G |
Pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1555587992 |
ACTT>- |
Pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1555588016 |
->GTTTATAGACCTCAGGTTGCAAAACCCCTAATCTAAGCATAGCATT |
Pathogenic |
Intron variant, coding sequence variant, inframe indel, stop gained, non coding transcript variant |
| rs1555588074 |
->TC |
Pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1555588090 |
->T |
Pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1555588199 |
->TGAATGTTTTCATCACTGGAACCTATTTCATTAATACTGGAGCCCACTTCATTAGTACT |
Pathogenic |
Intron variant, coding sequence variant, inframe indel, stop gained, non coding transcript variant |
| rs1555588220 |
C>A,T |
Uncertain-significance, pathogenic |
Intron variant, coding sequence variant, missense variant, stop gained, non coding transcript variant |
| rs1555588222 |
->C |
Pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1555588361 |
G>- |
Pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1555588381 |
->A |
Pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1555588385 |
TAAA>- |
Pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1555588392 |
CA>- |
Pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1555588399 |
->T |
Pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1555588427 |
->GTGCTCACTGTACTTGGAATGATCTCATTTCCCATTTCTCTTTCAGGTGACATTGAATGTTCCTCAAAGTTTTCCT |
Pathogenic |
Intron variant, coding sequence variant, inframe indel, stop gained, non coding transcript variant |
| rs1555588460 |
G>- |
Pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1555588469 |
->TCTCA |
Pathogenic |
Intron variant, stop gained, non coding transcript variant, coding sequence variant |
| rs1555588625 |
CTTGA>- |
Pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1555588752 |
->GA |
Pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1555588756 |
->G |
Pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1555588803 |
->T |
Pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1555588818 |
G>- |
Pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1555588822 |
->A |
Pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1555588844 |
->G |
Pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1555588846 |
->A |
Pathogenic |
Intron variant, stop gained, non coding transcript variant, coding sequence variant |
| rs1555588883 |
ATTTGGCATTA>TTATCAAACTGGCTTATCTT |
Pathogenic |
Intron variant, coding sequence variant, inframe indel, stop gained, non coding transcript variant |
| rs1555588915 |
T>A |
Likely-pathogenic, pathogenic |
Intron variant, stop gained, non coding transcript variant, coding sequence variant |
| rs1555588942 |
A>- |
Pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1555588952 |
->AAAGCCTGCAGTGATAA |
Pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1555589008 |
->CACCC |
Pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1555589094 |
A>T |
Pathogenic |
Intron variant, stop gained, non coding transcript variant, coding sequence variant |
| rs1555589128 |
->TG |
Pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1555589138 |
->TG |
Pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1555589140 |
->T |
Pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1555589143 |
GTTTCTTT>- |
Pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1555589195 |
->T |
Pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1555589203 |
->C |
Pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1555589228 |
->GCCT |
Pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1555589236 |
->TGCC |
Pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1555589289 |
->G |
Pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1555589340 |
->AA |
Pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1555589351 |
T>- |
Pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1555589385 |
->ATCAA |
Pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1555589397 |
->CG |
Pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1555589410 |
->GAAAAGTGAA |
Pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1555589434 |
T>- |
Pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1555589501 |
A>- |
Pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1555589513 |
->T |
Pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1555589539 |
->ATGGATAC |
Pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1555589547 |
->CA |
Pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1555589559 |
->ATGGATACTT |
Pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1555589565 |
->AGGGG |
Pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1555589569 |
T>A |
Pathogenic |
Intron variant, stop gained, non coding transcript variant, coding sequence variant |
| rs1555589652 |
->A |
Pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1555589706 |
GC>- |
Pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1555589728 |
GA>- |
Pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1555589901 |
->T |
Pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1555589935 |
->G |
Pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1555589953 |
T>- |
Pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1555590033 |
->T |
Pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1555590055 |
->TC |
Pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1555590121 |
T>- |
Pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1555590136 |
->CACTTTAACTGTTTCTAGTTTCTCTTCTTTTTCTTCTCTTGGAAGGCTAGGATTGACAAATTCTTTA |
Pathogenic |
Intron variant, stop gained, non coding transcript variant, coding sequence variant |
| rs1555590163 |
->AG |
Pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1555590294 |
GGATTGACAAATTCTTTAAGTTCACTGGTATTTGAACACTTAGTAAAAGAACCAGGTGCATTTGTTAACTTCAGCTCTGGGAAAGTATCGCTGTCATGTCT>- |
Pathogenic |
Intron variant, stop gained, non coding transcript variant, coding sequence variant |
| rs1555590315 |
C>- |
Pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1555590319 |
AA>- |
Pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1555590322 |
->AAATTCTT |
Pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1555590332 |
->C |
Pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1555590415 |
->CT,T |
Pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1555590428 |
->CTA |
Pathogenic |
Intron variant, stop gained, non coding transcript variant, coding sequence variant |
| rs1555590441 |
C>- |
Pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1555590461 |
->T |
Pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1555590505 |
C>- |
Pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1555590520 |
->TA |
Pathogenic |
Intron variant, stop gained, non coding transcript variant, coding sequence variant |
| rs1555590620 |
->GG |
Pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1555590714 |
T>- |
Likely-pathogenic, pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1555590775 |
->C |
Pathogenic |
Intron variant, stop gained, non coding transcript variant, coding sequence variant |
| rs1555590789 |
->C |
Pathogenic |
Intron variant, stop gained, non coding transcript variant, coding sequence variant |
| rs1555590811 |
->GT |
Pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1555590829 |
->TG |
Pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1555590964 |
->A |
Pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1555590987 |
T>A |
Pathogenic |
Intron variant, stop gained, non coding transcript variant, coding sequence variant |
| rs1555590997 |
->GG |
Pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1555591019 |
->ACTA |
Pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1555591112 |
->C |
Pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1555591170 |
ATTCT>- |
Likely-pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1555591273 |
T>- |
Pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1555591286 |
->A |
Pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1555591287 |
ATAG>TC |
Pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1555591326 |
->C |
Pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1555591335 |
->C |
Likely-pathogenic, pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1555591372 |
->CTTTC |
Pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1555591383 |
C>- |
Pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1555591390 |
GTTT>- |
Pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1555591420 |
->G |
Pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1555591470 |
C>- |
Pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1555591543 |
A>- |
Pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1555591551 |
->G |
Pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1555591596 |
GATGTAGGTCT>- |
Pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1555591635 |
->A |
Pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1555591703 |
C>- |
Likely-pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1555591706 |
->G |
Pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1555591746 |
->A |
Likely-pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1555591749 |
->T |
Pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1555591774 |
G>- |
Pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1555591796 |
->A |
Pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1555591812 |
->A |
Pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1555591814 |
->C |
Pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1555591846 |
->CT |
Pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1555591850 |
->A |
Pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1555591909 |
->C |
Pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1555591939 |
->T |
Pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1555591956 |
->C |
Pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1555591959 |
TCAT>- |
Pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1555591984 |
AAGT>- |
Pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1555591993 |
->G |
Pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1555592003 |
->G |
Pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1555592108 |
A>- |
Pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1555592129 |
->T |
Pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1555592157 |
TGATTCAGACTCCCCATCATGTGAGTCATCAGAACCTAAC>- |
Pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1555592174 |
->AG |
Pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1555592219 |
->T |
Pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1555592264 |
->T |
Pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1555592299 |
->A |
Pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1555592304 |
->CT |
Pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1555592354 |
C>T |
Pathogenic |
Intron variant, stop gained, non coding transcript variant, coding sequence variant |
| rs1555592474 |
A>- |
Pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1555592487 |
->GA |
Pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1555592498 |
->C |
Pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1555592500 |
->G |
Pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1555592526 |
AG>- |
Pathogenic-likely-pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1555592537 |
->T |
Pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1555592544 |
->T |
Pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1555592576 |
CATTC>- |
Pathogenic |
Intron variant, stop gained, non coding transcript variant, coding sequence variant |
| rs1555592590 |
->GTGA |
Pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1555592601 |
CA>- |
Pathogenic |
Intron variant, coding sequence variant, inframe indel, stop gained, non coding transcript variant |
| rs1555592640 |
->T |
Pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1555592653 |
->G |
Pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1555592671 |
CT>- |
Pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1555592676 |
TGTGCTGGGAGTC>- |
Pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1555592683 |
GTGCTGGGAGTCCGCCTATCATTACATGTTTCCTTACTTCCAGCCCATCTGTTATGTTGGCTCC>- |
Pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1555592723 |
->G |
Pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1555592744 |
GCCCA>- |
Likely-pathogenic, pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1555592766 |
TTATGTTGGCTCCTT>GAAGTAAG |
Likely-pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1555592770 |
->AC |
Pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1555592776 |
T>- |
Pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1555592859 |
->G |
Pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1555592870 |
TACATTCATTCTGTCTTTAGTGAGTAATAAACTGCTGTTCTCATGCTGTAATGAGCTGGCATGAGTATTTGTGCCACATGGCTCCACATGCAAGTTTGAAACAGAACTACCCTGATACTTTTCTGGATGCCTCTCAGCTGCACGCTTCTCAGTGGTGTTCAAATCATTATTACTGGGTTGATGATGTTCAGTATTTGTTACATCCGTCTCAGAAAATTCACAAGCAGCTGAAAATATACAAAAATAACAAGGTAC |
Pathogenic |
Intron variant, coding sequence variant, splice donor variant, splice acceptor variant, non coding transcript variant |
| rs1555592891 |
AT>- |
Pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1555592938 |
GAGT>- |
Pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1555592956 |
A>- |
Pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1555592986 |
->T |
Pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1555593007 |
->T |
Pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1555593017 |
->A |
Pathogenic |
Intron variant, stop gained, non coding transcript variant, coding sequence variant |
| rs1555593020 |
TGTG>ATT |
Pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1555593031 |
->CACATGGCTCC |
Not-provided, pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1555593043 |
->TCCACATGGA |
Pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1555593134 |
->CT,T |
Pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant |
| rs1555593195 |
G>- |
Pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant |
| rs1555593207 |
->T |
Pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant |
| rs1555593246 |
->CTGGGTTGATGATGTTCAGTATTTGTTACTA |
Pathogenic |
Stop gained, non coding transcript variant, coding sequence variant, inframe indel |
| rs1555593279 |
->T |
Pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant |
| rs1555593294 |
TAC>- |
Pathogenic |
Inframe deletion, non coding transcript variant, coding sequence variant |
| rs1555593298 |
C>- |
Pathogenic |
Stop gained, non coding transcript variant, coding sequence variant |
| rs1555593302 |
->T |
Pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant |
| rs1555593310 |
C>A |
Likely-pathogenic, pathogenic |
Stop gained, non coding transcript variant, coding sequence variant |
| rs1555593321 |
->G |
Pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant |
| rs1555593598 |
A>C |
Likely-pathogenic |
Stop gained, non coding transcript variant, coding sequence variant |
| rs1555594718 |
GAACTGCGTCTTTTACATTTTTTATAACTCACCATAGGGCTCATAAAATTCACTTCCCAAAGCTGCCTACCACAAATACAAATTATGACCAAGATTTTTGGCAAAACTATAAGATAAGGAATCCAGCAATTATTATTAAATACTTAAAAAACCTGAGACCCTTACCCAATTCAATGT>- |
Pathogenic |
Splice donor variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1555594841 |
TTTGAGGTTGTATCCGCTGCTTTGTCCTCAGAGTTCTCACAGTTCCAAGGTTAGAGAGTTGGACACTGAGACTGGTTTCCTGCTAAACAGTATGGTAAAGAACAGTCAAGCAATTGTTGGCCAGTT>- |
Pathogenic |
Non coding transcript variant, intron variant, splice acceptor variant, coding sequence variant |
| rs1555594935 |
->TA |
Pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant |
| rs1555594954 |
T>- |
Pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant |
| rs1555596273 |
T>C |
Conflicting-interpretations-of-pathogenicity |
Intron variant |
| rs1555596294 |
TTCGGGTT>- |
Pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant |
| rs1555596315 |
G>- |
Pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant |
| rs1555596373 |
T>- |
Likely-pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant |
| rs1555596382 |
->A |
Pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant |
| rs1555596392 |
->A |
Pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant |
| rs1555596484 |
->T |
Pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant |
| rs1555596663 |
GA>TTC |
Pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant |
| rs1555597215 |
->TTTATATCATCCTTACATT |
Pathogenic |
Stop gained, non coding transcript variant, coding sequence variant |
| rs1555597235 |
AA>- |
Pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant |
| rs1555597239 |
->GCGC |
Pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant |
| rs1555597309 |
->A |
Pathogenic |
Frameshift variant, non coding transcript variant, 5 prime UTR variant, coding sequence variant |
| rs1555599205 |
TTGCAAAATATGT>A |
Likely-pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, inframe indel |
| rs1555599208 |
TTGCAAAATATGTGGTCACACTTTGTGGAGACAGGTTCCTTGATCAACTCCAGA>- |
Pathogenic |
Intron variant, coding sequence variant, inframe indel, stop gained, non coding transcript variant |
| rs1555599226 |
G>-,GG |
Likely-pathogenic, pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1555599281 |
A>- |
Pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1555599292 |
CTAGC>TCAAGGT |
Likely-pathogenic |
Intron variant, splice acceptor variant |
| rs1567764182 |
CTTTCTG>- |
Pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant |
| rs1567777811 |
GGCCCAGACT>- |
Likely-pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant |
| rs1567778075 |
G>- |
Likely-pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant |
| rs1567778176 |
T>- |
Likely-pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant |
| rs1567779686 |
G>- |
Pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant |
| rs1567779838 |
->TTCACTA |
Pathogenic |
Stop gained, non coding transcript variant, coding sequence variant |
| rs1567782959 |
T>- |
Likely-pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant |
| rs1567783654 |
T>- |
Pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant |
| rs1567788168 |
C>- |
Pathogenic |
Splice donor variant, non coding transcript variant, coding sequence variant |
| rs1567788282 |
T>- |
Pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant |
| rs1567788338 |
GC>- |
Pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant |
| rs1567788936 |
A>C |
Likely-pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, missense variant |
| rs1567789440 |
G>C |
Conflicting-interpretations-of-pathogenicity |
Intron variant, non coding transcript variant, synonymous variant, coding sequence variant |
| rs1567790067 |
T>- |
Likely-pathogenic, pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1567790190 |
GTGTTCTTAGACAGACACT>- |
Pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1567790420 |
->A |
Pathogenic |
Intron variant, stop gained, non coding transcript variant, coding sequence variant |
| rs1567790559 |
->T |
Likely-pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1567790674 |
T>- |
Pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1567790791 |
T>- |
Pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1567791626 |
C>- |
Pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1567792067 |
->A |
Likely-pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1567792675 |
->CCAC |
Pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1567792767 |
CATT>- |
Pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1567792876 |
TT>- |
Pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1567792938 |
T>- |
Pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1567793053 |
A>- |
Pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1567793163 |
TT>- |
Pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1567794393 |
ATTAGACTCAT>- |
Pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1567795017 |
TTTGAA>AAAAGAAT |
Pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1567795809 |
CAC>TTGATACAGTAAGTGCCGTCATGTTTTTGCTATAGGGGAAATG |
Likely-pathogenic |
Intron variant, coding sequence variant, inframe indel, stop gained, non coding transcript variant |
| rs1567796243 |
C>- |
Likely-pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1567796377 |
TTAAC>- |
Pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1567796774 |
T>- |
Pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1567796780 |
CT>- |
Pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1567796807 |
TAAGTTCACTGGT>AAAGA |
Pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1567796819 |
GTTC>- |
Pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1567797130 |
->C |
Pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1567797549 |
->C |
Pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1567797661 |
TAGAACAACTATCAATTTGC>- |
Pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1567797748 |
ACAATTAGGT>- |
Pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1567797787 |
->A |
Pathogenic |
Intron variant, stop gained, non coding transcript variant, coding sequence variant |
| rs1567798003 |
G>- |
Pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1567798189 |
T>C |
Conflicting-interpretations-of-pathogenicity |
Intron variant, non coding transcript variant, coding sequence variant, missense variant |
| rs1567798263 |
T>- |
Pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1567799078 |
TG>- |
Pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1567799822 |
T>CC |
Pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1567800087 |
->TGGCCAGTAAGTCTATTTTCTCTGAAGAACC |
Pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1567800172 |
T>- |
Pathogenic |
Intron variant, stop gained, non coding transcript variant, coding sequence variant |
| rs1567800523 |
A>- |
Pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1567801398 |
A>- |
Pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1567801576 |
C>- |
Pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1567803215 |
->T |
Pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant |
| rs1567806048 |
G>A |
Pathogenic |
Stop gained, non coding transcript variant, coding sequence variant |
| rs1567810400 |
GG>- |
Pathogenic |
Stop gained, non coding transcript variant, coding sequence variant |
| rs1567811002 |
A>G |
Likely-pathogenic |
Splice donor variant |
| rs1567811070 |
AAGC>- |
Pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant |
| rs1567817957 |
->G |
Pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1597796682 |
TAGGT>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant, 3 prime UTR variant |
| rs1597796956 |
->G |
Likely-pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant, 3 prime UTR variant |
| rs1597797251 |
GC>AA |
Likely-pathogenic |
Coding sequence variant, splice acceptor variant, non coding transcript variant |
| rs1597810544 |
T>C |
Uncertain-significance, likely-pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
| rs1597810843 |
G>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs1597819841 |
ATACTTACAGAAATAG>CTATTT |
Likely-pathogenic |
Coding sequence variant, non coding transcript variant, intron variant, splice donor variant |
| rs1597825560 |
C>- |
Likely-pathogenic |
Coding sequence variant, non coding transcript variant, splice donor variant |
| rs1597825743 |
->TA |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs1597830263 |
A>G |
Uncertain-significance, likely-pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
| rs1597830403 |
CTT>- |
Pathogenic |
Inframe deletion, coding sequence variant, non coding transcript variant |
| rs1597830446 |
->AAAA |
Pathogenic |
Coding sequence variant, non coding transcript variant, inframe indel, stop gained |
| rs1597831440 |
T>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs1597831578 |
->G |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs1597831850 |
->CC |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs1597835688 |
G>- |
Pathogenic |
Coding sequence variant, non coding transcript variant, stop gained |
| rs1597839379 |
->T |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs1597848148 |
ATGCTGTTCTAACACAGCTTCTAGTTCAGCCATTTCCTGCTGGAGCTTTATCAGGTTATGTTGCATGGTATCCC>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs1597848407 |
C>G |
Likely-pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
| rs1597848491 |
->A |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs1597853155 |
G>A |
Likely-pathogenic |
Intron variant |
| rs1597858204 |
CTGA>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs1597859595 |
ATTT>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant, intron variant |
| rs1597859750 |
->AT |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant, intron variant |
| rs1597860092 |
->CCTCATTTGTTTGGAAGAACCAATCAAG |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant, intron variant |
| rs1597860167 |
TTTG>- |
Pathogenic |
Coding sequence variant, non coding transcript variant, intron variant, stop gained |
| rs1597860714 |
CA>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant, intron variant |
| rs1597861739 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant, intron variant |
| rs1597861891 |
GT>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant, intron variant |
| rs1597863566 |
T>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant, intron variant |
| rs1597863644 |
GA>- |
Pathogenic |
Coding sequence variant, non coding transcript variant, intron variant, stop gained |
| rs1597864491 |
ATTA>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant, intron variant |
| rs1597864731 |
->TAG |
Pathogenic |
Inframe insertion, coding sequence variant, non coding transcript variant, intron variant, stop gained |
| rs1597865013 |
->T |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant, intron variant |
| rs1597865625 |
CTT>TC |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant, intron variant |
| rs1597866339 |
T>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant, intron variant |
| rs1597866816 |
A>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant, intron variant |
| rs1597867163 |
T>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant, intron variant |
| rs1597867185 |
GATAG>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant, intron variant |
| rs1597867214 |
A>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant, intron variant |
| rs1597867344 |
T>A |
Pathogenic |
Coding sequence variant, non coding transcript variant, intron variant, stop gained |
| rs1597867385 |
->GG |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant, intron variant |
| rs1597868211 |
T>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant, intron variant |
| rs1597868983 |
->A |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant, intron variant |
| rs1597869157 |
T>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant, intron variant |
| rs1597869317 |
AC>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant, intron variant |
| rs1597870104 |
A>T |
Pathogenic |
Coding sequence variant, non coding transcript variant, intron variant, stop gained |
| rs1597870272 |
->GTTCTGTTTTTGCCTTCCCTAGAGTGCTAACTTCCAGTAACGAGATACTTTCCTG |
Pathogenic |
Coding sequence variant, inframe indel, non coding transcript variant, intron variant, stop gained |
| rs1597870555 |
TA>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant, intron variant |
| rs1597870583 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant, intron variant |
| rs1597870909 |
AC>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant, intron variant |
| rs1597872420 |
CTGT>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant, intron variant |
| rs1597872456 |
TGTT>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant, intron variant |
| rs1597872557 |
->G |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant, intron variant |
| rs1597872603 |
C>A,T |
Uncertain-significance, pathogenic |
Coding sequence variant, non coding transcript variant, intron variant, missense variant, stop gained |
| rs1597872648 |
->CA |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant, intron variant |
| rs1597873542 |
T>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant, intron variant |
| rs1597874447 |
G>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant, intron variant |
| rs1597874930 |
->C |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant, intron variant |
| rs1597876950 |
->T |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant, intron variant |
| rs1597877892 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant, intron variant |
| rs1597878453 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant, intron variant |
| rs1597879048 |
->AGGC |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant, intron variant |
| rs1597880292 |
->C |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs1597887797 |
->T |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs1597887869 |
TTGT>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs1597897136 |
G>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs1597911705 |
GC>- |
Pathogenic |
Coding sequence variant, non coding transcript variant, intron variant, stop gained |
|
