| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
|
rs11309117 |
AAAAAAAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAA |
Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity, benign |
Intron variant |
|
rs12476364 |
G>A,C,T |
Likely-pathogenic, pathogenic |
Splice acceptor variant |
|
rs17217716 |
C>G,T |
Benign-likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance, benign |
Coding sequence variant, missense variant, intron variant, non coding transcript variant |
|
rs17217723 |
A>G,T |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Coding sequence variant, missense variant, intron variant, non coding transcript variant |
|
rs17217772 |
A>C,G,T |
Conflicting-interpretations-of-pathogenicity, uncertain-significance, benign |
Coding sequence variant, missense variant, non coding transcript variant |
|
rs28929483 |
C>A,G,T |
Likely-pathogenic, pathogenic, uncertain-significance |
Coding sequence variant, missense variant, non coding transcript variant |
|
rs28929484 |
C>T |
Pathogenic |
Coding sequence variant, missense variant, non coding transcript variant |
|
rs33946261 |
C>G,T |
Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity |
Coding sequence variant, missense variant, intron variant, synonymous variant, non coding transcript variant |
|
rs34136999 |
C>T |
Likely-benign, uncertain-significance, benign, conflicting-interpretations-of-pathogenicity |
Coding sequence variant, missense variant, non coding transcript variant |
|
rs34986638 |
G>T |
Pathogenic |
Coding sequence variant, stop gained, non coding transcript variant |
|
rs41295286 |
G>A,C |
Likely-benign, uncertain-significance, benign, conflicting-interpretations-of-pathogenicity |
Coding sequence variant, missense variant, non coding transcript variant |
|
rs41295288 |
A>G |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Coding sequence variant, missense variant, non coding transcript variant |
|
rs41295296 |
A>C,G |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Coding sequence variant, missense variant, non coding transcript variant |
|
rs55778204 |
A>G |
Likely-benign, benign, conflicting-interpretations-of-pathogenicity |
Coding sequence variant, missense variant, non coding transcript variant |
|
rs63749802 |
G>T |
Pathogenic |
Coding sequence variant, stop gained, non coding transcript variant |
|
rs63749811 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs63749814 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs63749830 |
G>A,T |
Pathogenic, uncertain-significance |
Coding sequence variant, missense variant, stop gained, non coding transcript variant |
|
rs63749831 |
AAT>- |
Pathogenic |
Coding sequence variant, inframe deletion, non coding transcript variant |
|
rs63749832 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs63749841 |
A>G |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Coding sequence variant, missense variant, non coding transcript variant |
|
rs63749846 |
T>A,G |
Likely-pathogenic, uncertain-significance |
Coding sequence variant, stop gained, missense variant, non coding transcript variant |
|
rs63749848 |
AG>- |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs63749849 |
C>T |
Pathogenic |
Coding sequence variant, stop gained, non coding transcript variant |
|
rs63749850 |
->CA |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs63749852 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs63749854 |
G>T |
Pathogenic |
Coding sequence variant, stop gained, non coding transcript variant |
|
rs63749872 |
TT>- |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs63749878 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs63749897 |
AA>-,A,AAA |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs63749902 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs63749910 |
T>C |
Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity |
Coding sequence variant, missense variant, non coding transcript variant |
|
rs63749913 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs63749914 |
T>A,C |
Uncertain-significance, pathogenic |
Coding sequence variant, stop gained, missense variant, non coding transcript variant |
|
rs63749915 |
A>T |
Pathogenic |
Coding sequence variant, stop gained, non coding transcript variant |
|
rs63749917 |
C>T |
Pathogenic |
Coding sequence variant, stop gained, non coding transcript variant |
|
rs63749920 |
A>T |
Pathogenic |
Coding sequence variant, stop gained, non coding transcript variant |
|
rs63749929 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs63749930 |
CA>- |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs63749932 |
C>G,T |
Pathogenic, uncertain-significance |
Coding sequence variant, missense variant, stop gained, non coding transcript variant |
|
rs63749945 |
->T |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs63749947 |
G>T |
Pathogenic |
Coding sequence variant, stop gained, non coding transcript variant |
|
rs63749949 |
T>C,G |
Likely-benign, pathogenic |
Coding sequence variant, stop gained, synonymous variant, non coding transcript variant |
|
rs63749963 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs63749975 |
TG>- |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs63749983 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs63749984 |
G>C,T |
Pathogenic, uncertain-significance |
Coding sequence variant, missense variant, stop gained, non coding transcript variant |
|
rs63749991 |
C>A,G,T |
Pathogenic |
Coding sequence variant, stop gained, missense variant, non coding transcript variant |
|
rs63749993 |
T>C,G |
Pathogenic, uncertain-significance |
Coding sequence variant, missense variant, non coding transcript variant |
|
rs63750006 |
C>A,G,T |
Benign, likely-benign, pathogenic |
Coding sequence variant, missense variant, stop gained, non coding transcript variant |
|
rs63750008 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs63750027 |
A>G |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Coding sequence variant, missense variant, non coding transcript variant |
|
rs63750037 |
C>A,T |
Pathogenic, uncertain-significance |
Coding sequence variant, missense variant, stop gained, non coding transcript variant |
|
rs63750039 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs63750042 |
C>G,T |
Pathogenic |
Coding sequence variant, missense variant, stop gained, non coding transcript variant |
|
rs63750046 |
->AGCAGTCA |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs63750047 |
C>T |
Pathogenic |
Coding sequence variant, stop gained, non coding transcript variant |
|
rs63750058 |
C>A,T |
Likely-pathogenic, uncertain-significance |
Coding sequence variant, stop gained, missense variant, non coding transcript variant |
|
rs63750060 |
CA>- |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs63750068 |
A>-,AA |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs63750069 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs63750070 |
T>C,G |
Pathogenic, conflicting-interpretations-of-pathogenicity |
Coding sequence variant, missense variant, non coding transcript variant |
|
rs63750078 |
G>C,T |
Pathogenic, uncertain-significance |
Coding sequence variant, missense variant, stop gained, non coding transcript variant |
|
rs63750084 |
A>-,AA |
Pathogenic |
Coding sequence variant, frameshift variant, intron variant |
|
rs63750086 |
AG>- |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs63750087 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant, intron variant, non coding transcript variant |
|
rs63750088 |
TGAGGCTCT>- |
Pathogenic |
Coding sequence variant, inframe deletion, non coding transcript variant |
|
rs63750091 |
T>-,TT |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs63750094 |
A>-,AA |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs63750097 |
C>T |
Pathogenic |
Coding sequence variant, stop gained, non coding transcript variant |
|
rs63750103 |
G>- |
Pathogenic |
Coding sequence variant, splice acceptor variant, non coding transcript variant |
|
rs63750104 |
->G |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs63750107 |
->G |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs63750113 |
GACA>- |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs63750124 |
T>C,G |
Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance |
Coding sequence variant, missense variant, synonymous variant, non coding transcript variant |
|
rs63750126 |
T>A,C,G |
Uncertain-significance, pathogenic |
Coding sequence variant, missense variant, non coding transcript variant |
|
rs63750132 |
T>C,G |
Likely-pathogenic, pathogenic |
Coding sequence variant, stop gained, synonymous variant, non coding transcript variant |
|
rs63750149 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs63750160 |
G>-,GG,GGG |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant, stop gained, 5 prime UTR variant |
|
rs63750161 |
GA>- |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs63750199 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant, initiator codon variant, non coding transcript variant |
|
rs63750200 |
C>G,T |
Pathogenic, uncertain-significance |
Coding sequence variant, missense variant, stop gained, non coding transcript variant |
|
rs63750203 |
C>G,T |
Pathogenic |
Coding sequence variant, missense variant, stop gained, non coding transcript variant |
|
rs63750210 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs63750214 |
T>A,C,G |
Uncertain-significance, likely-pathogenic, pathogenic |
Coding sequence variant, missense variant, non coding transcript variant |
|
rs63750224 |
C>A,G,T |
Likely-benign, pathogenic |
Coding sequence variant, stop gained, synonymous variant, non coding transcript variant |
|
rs63750232 |
G>A,C,T |
Pathogenic-likely-pathogenic, likely-pathogenic, uncertain-significance |
Coding sequence variant, missense variant, non coding transcript variant |
|
rs63750233 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs63750234 |
G>A,C |
Likely-pathogenic |
Coding sequence variant, missense variant, non coding transcript variant |
|
rs63750245 |
C>A,T |
Pathogenic, uncertain-significance |
Coding sequence variant, missense variant, stop gained, non coding transcript variant |
|
rs63750255 |
G>C |
Benign, likely-benign, conflicting-interpretations-of-pathogenicity |
Coding sequence variant, missense variant, non coding transcript variant |
|
rs63750267 |
C>G,T |
Pathogenic |
Coding sequence variant, missense variant, stop gained, non coding transcript variant |
|
rs63750276 |
G>T |
Pathogenic |
Coding sequence variant, stop gained, non coding transcript variant |
|
rs63750280 |
C>A,G |
Likely-pathogenic, uncertain-significance |
Coding sequence variant, missense variant, non coding transcript variant |
|
rs63750291 |
C>G,T |
Pathogenic, uncertain-significance |
Coding sequence variant, missense variant, stop gained, non coding transcript variant |
|
rs63750302 |
C>T |
Pathogenic |
Coding sequence variant, stop gained, non coding transcript variant |
|
rs63750312 |
T>C,G |
Pathogenic |
Coding sequence variant, stop gained, synonymous variant, non coding transcript variant |
|
rs63750318 |
G>A,T |
Pathogenic, uncertain-significance |
Coding sequence variant, missense variant, stop gained, non coding transcript variant |
|
rs63750328 |
G>A,T |
Pathogenic, uncertain-significance |
Coding sequence variant, missense variant, stop gained, non coding transcript variant |
|
rs63750329 |
AGTG>TT |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs63750330 |
T>A,C |
Likely-benign, pathogenic, benign, uncertain-significance, benign-likely-benign |
Coding sequence variant, stop gained, synonymous variant, non coding transcript variant |
|
rs63750334 |
GA>- |
Pathogenic |
Coding sequence variant, frameshift variant, intron variant, non coding transcript variant |
|
rs63750337 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant, intron variant, non coding transcript variant |
|
rs63750346 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs63750347 |
C>G,T |
Pathogenic |
Coding sequence variant, missense variant, stop gained, non coding transcript variant |
|
rs63750352 |
->G |
Pathogenic |
Coding sequence variant, frameshift variant, intron variant, non coding transcript variant |
|
rs63750362 |
->T |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs63750364 |
->T |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs63750382 |
G>A,T |
Pathogenic, uncertain-significance |
Coding sequence variant, missense variant, stop gained, non coding transcript variant |
|
rs63750384 |
G>- |
Pathogenic |
Coding sequence variant, stop gained, non coding transcript variant |
|
rs63750393 |
GA>-,GAGA |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs63750396 |
G>A |
Pathogenic |
Coding sequence variant, stop gained, non coding transcript variant |
|
rs63750398 |
G>A,T |
Likely-pathogenic, pathogenic |
Coding sequence variant, missense variant, non coding transcript variant |
|
rs63750401 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs63750403 |
T>G |
Pathogenic |
Coding sequence variant, stop gained, non coding transcript variant |
|
rs63750406 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs63750408 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs63750426 |
TT>- |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs63750458 |
T>G |
Pathogenic |
Coding sequence variant, stop gained, non coding transcript variant |
|
rs63750463 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs63750466 |
G>A |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Coding sequence variant, missense variant, intron variant, non coding transcript variant |
|
rs63750468 |
T>C |
Likely-pathogenic |
Coding sequence variant, missense variant, non coding transcript variant |
|
rs63750474 |
AAACA>- |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs63750488 |
C>G,T |
Pathogenic, uncertain-significance |
Coding sequence variant, missense variant, stop gained, non coding transcript variant |
|
rs63750493 |
C>G |
Pathogenic |
Coding sequence variant, stop gained, non coding transcript variant |
|
rs63750495 |
TG>- |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs63750496 |
->C |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs63750501 |
ATTG>- |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs63750502 |
C>G,T |
Pathogenic, uncertain-significance |
Coding sequence variant, missense variant, stop gained, non coding transcript variant |
|
rs63750508 |
C>G,T |
Pathogenic, likely-pathogenic, uncertain-significance |
Coding sequence variant, missense variant, stop gained, non coding transcript variant |
|
rs63750516 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs63750521 |
T>C,G |
Pathogenic |
Coding sequence variant, missense variant, stop gained, non coding transcript variant |
|
rs63750545 |
->C |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs63750551 |
AA>- |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs63750558 |
C>T |
Pathogenic |
Coding sequence variant, stop gained, non coding transcript variant |
|
rs63750571 |
A>C,G,T |
Pathogenic, uncertain-significance |
Coding sequence variant, missense variant, stop gained, non coding transcript variant |
|
rs63750572 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs63750574 |
G>A,T |
Pathogenic, uncertain-significance |
Coding sequence variant, missense variant, stop gained, non coding transcript variant |
|
rs63750582 |
G>A,T |
Uncertain-significance, pathogenic |
Coding sequence variant, missense variant, non coding transcript variant |
|
rs63750583 |
GC>CT |
Pathogenic |
Coding sequence variant, stop gained, non coding transcript variant |
|
rs63750586 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs63750589 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant, intron variant, non coding transcript variant |
|
rs63750597 |
G>A,C |
Likely-pathogenic, pathogenic |
Coding sequence variant, missense variant, non coding transcript variant |
|
rs63750611 |
C>G,T |
Pathogenic, uncertain-significance |
Coding sequence variant, missense variant, stop gained, non coding transcript variant |
|
rs63750614 |
->G |
Pathogenic |
Coding sequence variant, frameshift variant, intron variant, non coding transcript variant |
|
rs63750615 |
G>T |
Pathogenic |
Coding sequence variant, stop gained, intron variant, non coding transcript variant |
|
rs63750618 |
C>A |
Pathogenic |
Coding sequence variant, stop gained, non coding transcript variant |
|
rs63750623 |
C>G,T |
Pathogenic |
Coding sequence variant, missense variant, stop gained, non coding transcript variant |
|
rs63750624 |
G>A |
Likely-pathogenic, pathogenic |
Coding sequence variant, missense variant, non coding transcript variant |
|
rs63750630 |
T>C |
Pathogenic |
Coding sequence variant, missense variant, non coding transcript variant |
|
rs63750633 |
T>- |
Pathogenic |
Coding sequence variant, stop gained, non coding transcript variant |
|
rs63750636 |
C>G,T |
Pathogenic, uncertain-significance |
Coding sequence variant, missense variant, stop gained, non coding transcript variant |
|
rs63750640 |
T>C,G |
Uncertain-significance, likely-pathogenic, pathogenic |
Coding sequence variant, missense variant, non coding transcript variant |
|
rs63750644 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant, intron variant, non coding transcript variant |
|
rs63750657 |
G>A,C,T |
Likely-pathogenic, uncertain-significance |
Coding sequence variant, missense variant, non coding transcript variant |
|
rs63750662 |
->GA |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs63750675 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs63750682 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs63750684 |
A>G |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Coding sequence variant, missense variant, non coding transcript variant |
|
rs63750689 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs63750690 |
GGACC>TTA |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs63750697 |
T>A,C |
Pathogenic |
Coding sequence variant, missense variant, non coding transcript variant |
|
rs63750701 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs63750703 |
AA>-,AAA |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs63750704 |
CA>- |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs63750712 |
CT>- |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs63750722 |
AGGA>- |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs63750728 |
ACCACAGTGC>- |
Pathogenic |
Coding sequence variant, frameshift variant, intron variant, non coding transcript variant |
|
rs63750737 |
AA>-,A |
Pathogenic |
Coding sequence variant, frameshift variant, stop gained, non coding transcript variant |
|
rs63750738 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs63750778 |
C>G,T |
Pathogenic, uncertain-significance |
Coding sequence variant, missense variant, stop gained, non coding transcript variant |
|
rs63750780 |
C>T |
Pathogenic |
Coding sequence variant, stop gained, non coding transcript variant |
|
rs63750786 |
->G |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs63750803 |
->T,TT |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs63750806 |
->GT |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs63750807 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs63750808 |
C>T |
Pathogenic |
Coding sequence variant, stop gained, intron variant |
|
rs63750828 |
G>A,T |
Uncertain-significance, likely-pathogenic, pathogenic |
Coding sequence variant, missense variant, non coding transcript variant |
|
rs63750843 |
C>G,T |
Pathogenic, uncertain-significance |
Coding sequence variant, missense variant, stop gained, non coding transcript variant |
|
rs63750844 |
T>C,G |
Likely-benign, pathogenic |
Coding sequence variant, stop gained, synonymous variant, non coding transcript variant |
|
rs63750845 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs63750849 |
C>A,T |
Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance, pathogenic |
Coding sequence variant, stop gained, missense variant, non coding transcript variant |
|
rs63750857 |
C>T |
Pathogenic |
Coding sequence variant, stop gained, non coding transcript variant |
|
rs63750872 |
T>A |
Pathogenic |
Coding sequence variant, stop gained, non coding transcript variant |
|
rs63750875 |
G>A,C |
Pathogenic |
Coding sequence variant, missense variant, non coding transcript variant |
|
rs63750881 |
A>C,G,T |
Pathogenic, uncertain-significance |
Coding sequence variant, missense variant, stop gained, non coding transcript variant |
|
rs63750885 |
->AT |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs63750893 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs63750894 |
T>A,C,G |
Likely-benign, pathogenic |
Synonymous variant, non coding transcript variant, coding sequence variant, intron variant, stop gained |
|
rs63750896 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs63750902 |
G>A,T |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Coding sequence variant, missense variant, non coding transcript variant |
|
rs63750910 |
C>A,G |
Pathogenic |
Coding sequence variant, stop gained, non coding transcript variant |
|
rs63750924 |
TC>- |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs63750933 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs63750934 |
C>T |
Pathogenic |
Coding sequence variant, stop gained, non coding transcript variant |
|
rs63750936 |
C>T |
Pathogenic |
Coding sequence variant, stop gained, non coding transcript variant |
|
rs63750937 |
CT>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs63750951 |
C>G,T |
Pathogenic, uncertain-significance |
Missense variant, non coding transcript variant, coding sequence variant, stop gained, 5 prime UTR variant |
|
rs63750957 |
AG>- |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs63750960 |
GAAG>- |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs63750961 |
T>C |
Pathogenic |
Coding sequence variant, missense variant, non coding transcript variant |
|
rs63750970 |
C>T |
Pathogenic |
Coding sequence variant, stop gained, non coding transcript variant |
|
rs63750984 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant, intron variant, non coding transcript variant |
|
rs63750986 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs63750995 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs63751004 |
G>A,C |
Likely-pathogenic, uncertain-significance |
Coding sequence variant, missense variant, non coding transcript variant |
|
rs63751007 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant, intron variant |
|
rs63751013 |
TACA>- |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs63751018 |
T>C,G |
Pathogenic |
Coding sequence variant, missense variant, stop gained, non coding transcript variant |
|
rs63751027 |
G>A |
Pathogenic |
Coding sequence variant, stop gained, non coding transcript variant |
|
rs63751036 |
TA>- |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs63751044 |
CA>- |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs63751056 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant, intron variant, non coding transcript variant |
|
rs63751059 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs63751065 |
C>T |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Coding sequence variant, synonymous variant, non coding transcript variant |
|
rs63751079 |
->G |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs63751099 |
C>A,T |
Pathogenic, uncertain-significance |
Missense variant, non coding transcript variant, coding sequence variant, intron variant, stop gained |
|
rs63751105 |
G>A,C |
Uncertain-significance, pathogenic |
Coding sequence variant, stop gained, missense variant, non coding transcript variant |
|
rs63751108 |
C>T |
Pathogenic |
Coding sequence variant, stop gained, non coding transcript variant |
|
rs63751110 |
T>C,G |
Uncertain-significance, pathogenic |
Coding sequence variant, missense variant, non coding transcript variant |
|
rs63751115 |
TT>-,T |
Pathogenic |
Coding sequence variant, frameshift variant, stop gained, non coding transcript variant |
|
rs63751117 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs63751119 |
G>A,C |
Likely-pathogenic, pathogenic |
Coding sequence variant, missense variant, non coding transcript variant |
|
rs63751120 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs63751123 |
C>-,CC |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs63751129 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs63751133 |
GT>- |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs63751140 |
G>A,C,T |
Likely-pathogenic, pathogenic |
Coding sequence variant, missense variant, non coding transcript variant |
|
rs63751142 |
->T |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs63751143 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs63751147 |
T>C,G |
Likely-pathogenic, uncertain-significance |
Coding sequence variant, missense variant, non coding transcript variant |
|
rs63751149 |
A>G,T |
Pathogenic, uncertain-significance |
Coding sequence variant, missense variant, stop gained, non coding transcript variant |
|
rs63751155 |
C>A,G,T |
Uncertain-significance, pathogenic |
Coding sequence variant, stop gained, missense variant, non coding transcript variant |
|
rs63751156 |
CATT>- |
Pathogenic |
Coding sequence variant, stop gained, non coding transcript variant |
|
rs63751158 |
->T |
Pathogenic |
Coding sequence variant, stop gained, non coding transcript variant |
|
rs63751159 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs63751160 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs63751161 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs63751169 |
->G |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs63751192 |
->CGAC |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs63751195 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs63751206 |
CCTA>- |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs63751207 |
G>A,C,T |
Pathogenic, likely-pathogenic, uncertain-significance |
Coding sequence variant, missense variant, non coding transcript variant |
|
rs63751212 |
A>G |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Coding sequence variant, synonymous variant, non coding transcript variant |
|
rs63751219 |
->TA |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs63751226 |
C>T |
Pathogenic |
Coding sequence variant, stop gained, non coding transcript variant |
|
rs63751227 |
AT>- |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs63751246 |
G>A,T |
Pathogenic |
Missense variant, non coding transcript variant, coding sequence variant, intron variant, stop gained |
|
rs63751260 |
G>A |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Coding sequence variant, missense variant, intron variant, non coding transcript variant |
|
rs63751271 |
C>A,G |
Pathogenic |
Coding sequence variant, stop gained, non coding transcript variant |
|
rs63751274 |
C>T |
Pathogenic |
Coding sequence variant, stop gained, non coding transcript variant |
|
rs63751288 |
TTAT>- |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs63751290 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs63751298 |
C>T |
Pathogenic |
Coding sequence variant, stop gained, non coding transcript variant |
|
rs63751299 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs63751315 |
T>A,C |
Pathogenic |
Coding sequence variant, stop gained, missense variant, non coding transcript variant |
|
rs63751317 |
C>A,G,T |
Likely-benign, pathogenic |
Coding sequence variant, stop gained, synonymous variant, non coding transcript variant |
|
rs63751326 |
C>T |
Pathogenic |
Coding sequence variant, stop gained, non coding transcript variant |
|
rs63751403 |
C>G,T |
Likely-benign, uncertain-significance, pathogenic |
Coding sequence variant, stop gained, missense variant, non coding transcript variant |
|
rs63751411 |
G>A,T |
Pathogenic |
Coding sequence variant, missense variant, stop gained, non coding transcript variant |
|
rs63751412 |
C>A,G,T |
Pathogenic, uncertain-significance |
Coding sequence variant, missense variant, stop gained, non coding transcript variant |
|
rs63751413 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs63751426 |
C>A,T |
Pathogenic, uncertain-significance |
Coding sequence variant, missense variant, stop gained, non coding transcript variant |
|
rs63751429 |
C>T |
Likely-pathogenic |
Coding sequence variant, missense variant, non coding transcript variant |
|
rs63751432 |
G>A,T |
Uncertain-significance, likely-pathogenic, conflicting-interpretations-of-pathogenicity |
Coding sequence variant, missense variant, non coding transcript variant |
|
rs63751444 |
T>C,G |
Pathogenic-likely-pathogenic, likely-pathogenic, pathogenic |
Coding sequence variant, missense variant, non coding transcript variant |
|
rs63751447 |
TAATTTC>- |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs63751449 |
A>-,AA |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs63751453 |
->T |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs63751454 |
G>A |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Coding sequence variant, missense variant, non coding transcript variant |
|
rs63751469 |
C>A,T |
Pathogenic |
Coding sequence variant, missense variant, intron variant, stop gained |
|
rs63751477 |
G>A,T |
Likely-pathogenic, pathogenic |
Coding sequence variant, missense variant, stop gained, non coding transcript variant |
|
rs63751482 |
CACGGCGAGGACGCGCTGCTGGCCGCCCG>- |
Pathogenic |
Coding sequence variant, frameshift variant, intron variant, non coding transcript variant |
|
rs63751483 |
->TT |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs63751602 |
TTCAA>- |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs63751604 |
G>A,C,T |
Likely-pathogenic, uncertain-significance |
Coding sequence variant, missense variant, non coding transcript variant |
|
rs63751614 |
AT>- |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs63751617 |
A>T |
Pathogenic |
Coding sequence variant, missense variant, non coding transcript variant |
|
rs63751618 |
AG>- |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs63751621 |
TG>- |
Pathogenic |
Coding sequence variant, stop gained, inframe indel, non coding transcript variant |
|
rs63751622 |
TG>- |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs63751624 |
G>A,C |
Uncertain-significance, likely-pathogenic, pathogenic |
Coding sequence variant, missense variant, synonymous variant, non coding transcript variant |
|
rs63751626 |
->G |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs63751640 |
G>A,C,T |
Pathogenic, uncertain-significance |
Coding sequence variant, missense variant, non coding transcript variant |
|
rs63751646 |
A>T |
Pathogenic |
Coding sequence variant, stop gained, non coding transcript variant |
|
rs63751650 |
A>G |
Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity |
Coding sequence variant, synonymous variant, non coding transcript variant |
|
rs63751656 |
A>C,G,T |
Uncertain-significance, likely-pathogenic, pathogenic |
Coding sequence variant, missense variant, non coding transcript variant |
|
rs63751667 |
AAAAA>AAAAAA,GAAAAG |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs63751668 |
G>A,C,T |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Coding sequence variant, missense variant, non coding transcript variant |
|
rs63751693 |
C>G,T |
Pathogenic, uncertain-significance |
Coding sequence variant, missense variant, stop gained, non coding transcript variant |
|
rs63751695 |
ACAG>- |
Pathogenic |
Coding sequence variant, stop gained, non coding transcript variant |
|
rs63751700 |
AT>- |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs63751712 |
G>A,T |
Pathogenic, uncertain-significance |
Coding sequence variant, missense variant, stop gained, non coding transcript variant |
|
rs80285180 |
G>A,T |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Coding sequence variant, non coding transcript variant, missense variant |
|
rs141711342 |
T>C,G |
Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign |
Non coding transcript variant, coding sequence variant, intron variant, missense variant |
|
rs145649774 |
C>G |
Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance |
Missense variant, coding sequence variant, non coding transcript variant |
|
rs146567853 |
G>A,T |
Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance |
Missense variant, coding sequence variant, non coding transcript variant |
|
rs151129360 |
A>G |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Non coding transcript variant, missense variant, coding sequence variant |
|
rs151244108 |
C>A,G,T |
Pathogenic, uncertain-significance |
Non coding transcript variant, missense variant, stop gained, coding sequence variant |
|
rs189025757 |
C>G |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Intron variant |
|
rs193922372 |
GCTTAGTTGATAAATTTTAATTTTATACTAAAATATTTTACATTAATTCAAGTTAATTTATTTCAGATTGAATTTAGTGGAAGCTTTTGTAGAAGATGCAGAATTGAGGCAGACTTTACAAGAAGATTTACTTCGT>- |
Likely-pathogenic, pathogenic |
Coding sequence variant, non coding transcript variant, intron variant, splice acceptor variant |
|
rs193922374 |
A>G |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Coding sequence variant, non coding transcript variant, missense variant |
|
rs193922375 |
->G |
Pathogenic, pathogenic-likely-pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
|
rs193922376 |
A>G,T |
Likely-pathogenic, pathogenic, uncertain-significance |
Intron variant |
|
rs200147804 |
A>C,T |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Coding sequence variant, non coding transcript variant, missense variant |
|
rs200252727 |
A>C,G |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Coding sequence variant, non coding transcript variant, missense variant |
|
rs201118107 |
A>C,G,T |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Coding sequence variant, non coding transcript variant, missense variant |
|
rs201298777 |
A>G |
Likely-benign, benign-likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity |
Coding sequence variant, non coding transcript variant, synonymous variant |
|
rs202145681 |
G>A,T |
Likely-benign, benign, pathogenic-likely-pathogenic |
Coding sequence variant, non coding transcript variant, stop gained, missense variant |
|
rs202215396 |
G>A,C,T |
Benign-likely-benign, likely-benign, conflicting-interpretations-of-pathogenicity |
Intron variant |
|
rs267607689 |
G>A,T |
Likely-pathogenic, pathogenic |
Splice donor variant |
|
rs267607691 |
->CT |
Pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
|
rs267607693 |
->A |
Pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
|
rs267607694 |
T>-,TT |
Pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant, stop gained |
|
rs267607696 |
->GG |
Pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
|
rs267607911 |
A>C,G,T |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Initiator codon variant, non coding transcript variant, intron variant, missense variant |
|
rs267607914 |
G>A,T |
Likely-pathogenic, pathogenic, uncertain-significance |
Splice acceptor variant |
|
rs267607915 |
A>- |
Pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant, intron variant |
|
rs267607916 |
C>A,G,T |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Intron variant |
|
rs267607917 |
A>G |
Likely-pathogenic |
Splice acceptor variant |
|
rs267607920 |
TT>-,TTT |
Pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
|
rs267607921 |
TG>- |
Pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
|
rs267607924 |
G>A,T |
Likely-pathogenic, pathogenic |
Splice donor variant |
|
rs267607925 |
G>A,T |
Likely-pathogenic |
Splice acceptor variant |
|
rs267607928 |
T>- |
Pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
|
rs267607929 |
TAGATAATTCAA>- |
Likely-pathogenic |
Coding sequence variant, non coding transcript variant, intron variant, splice acceptor variant |
|
rs267607930 |
T>C,G |
Uncertain-significance, likely-pathogenic, pathogenic, likely-benign, conflicting-interpretations-of-pathogenicity |
Intron variant |
|
rs267607931 |
GAAT>- |
Pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
|
rs267607933 |
A>C |
Likely-pathogenic |
Splice acceptor variant |
|
rs267607934 |
G>A |
Pathogenic |
Splice donor variant |
|
rs267607937 |
C>- |
Pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
|
rs267607939 |
C>A,G,T |
Likely-pathogenic, uncertain-significance, conflicting-interpretations-of-pathogenicity |
Coding sequence variant, non coding transcript variant, missense variant |
|
rs267607940 |
G>A,T |
Likely-pathogenic, pathogenic |
Splice donor variant |
|
rs267607943 |
A>C,G,T |
Likely-pathogenic, pathogenic |
Splice acceptor variant |
|
rs267607944 |
G>C,T |
Likely-pathogenic, pathogenic, pathogenic-likely-pathogenic |
Splice acceptor variant |
|
rs267607948 |
G>A,C |
Likely-pathogenic |
Splice acceptor variant |
|
rs267607949 |
A>C,G,T |
Likely-pathogenic, pathogenic |
Splice acceptor variant |
|
rs267607950 |
G>A,C,T |
Likely-pathogenic, pathogenic, not-provided, pathogenic-likely-pathogenic |
Splice donor variant |
|
rs267607953 |
T>A,C |
Likely-pathogenic, pathogenic |
Splice donor variant |
|
rs267607954 |
G>A,T |
Pathogenic, uncertain-significance |
Coding sequence variant, non coding transcript variant, stop gained, missense variant |
|
rs267607955 |
AAGT>- |
Pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
|
rs267607956 |
G>T |
Likely-pathogenic |
Splice acceptor variant |
|
rs267607957 |
G>A,C,T |
Likely-pathogenic, pathogenic |
Splice donor variant |
|
rs267607961 |
GAGAA>- |
Pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
|
rs267607962 |
A>G |
Pathogenic |
Splice acceptor variant |
|
rs267607964 |
G>A,T |
Pathogenic-likely-pathogenic |
Splice acceptor variant |
|
rs267607969 |
G>A,T |
Likely-pathogenic, pathogenic |
Splice donor variant |
|
rs267607970 |
G>A |
Pathogenic |
Splice acceptor variant |
|
rs267607971 |
A>G |
Likely-pathogenic, pathogenic |
Splice acceptor variant |
|
rs267607972 |
G>A,C,T |
Likely-pathogenic, pathogenic, uncertain-significance |
Intron variant |
|
rs267607974 |
G>- |
Pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
|
rs267607976 |
T>A,C |
Likely-pathogenic, pathogenic |
Splice donor variant |
|
rs267607977 |
->A |
Pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
|
rs267607978 |
TGT>- |
Likely-pathogenic |
Coding sequence variant, non coding transcript variant, inframe deletion |
|
rs267607979 |
G>A,C,T |
Likely-pathogenic, pathogenic, not-provided |
Splice acceptor variant |
|
rs267607982 |
C>G,T |
Pathogenic, uncertain-significance |
Coding sequence variant, non coding transcript variant, stop gained, missense variant |
|
rs267607983 |
C>A,G |
Likely-pathogenic |
Coding sequence variant, non coding transcript variant, missense variant |
|
rs267607984 |
C>- |
Pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
|
rs267607985 |
A>C,G,T |
Likely-pathogenic, uncertain-significance |
Coding sequence variant, non coding transcript variant, missense variant |
|
rs267607986 |
G>A,C,T |
Likely-pathogenic, pathogenic |
Splice donor variant |
|
rs267607987 |
T>C |
Pathogenic |
Splice donor variant |
|
rs267607988 |
G>C,T |
Likely-pathogenic, pathogenic, uncertain-significance |
Splice acceptor variant |
|
rs267607990 |
T>A,C |
Pathogenic, likely-benign |
Intron variant |
|
rs267607991 |
A>G |
Likely-pathogenic |
Splice acceptor variant |
|
rs267607994 |
C>T |
Likely-pathogenic, pathogenic, uncertain-significance |
Coding sequence variant, non coding transcript variant, missense variant |
|
rs267607995 |
G>A,T |
Pathogenic, uncertain-significance |
Coding sequence variant, non coding transcript variant, missense variant |
|
rs267607996 |
G>A,C |
Likely-pathogenic |
Coding sequence variant, non coding transcript variant, missense variant |
|
rs267608000 |
GT>- |
Pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
|
rs267608001 |
A>C,G,T |
Likely-pathogenic, pathogenic |
Splice acceptor variant |
|
rs267608002 |
G>A,C,T |
Likely-pathogenic, pathogenic |
Splice donor variant |
|
rs267608003 |
C>A,G,T |
Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity |
Intron variant |
|
rs267608006 |
T>A |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Intron variant |
|
rs267608009 |
C>- |
Pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
|
rs267608010 |
G>A,T |
Likely-pathogenic, pathogenic-likely-pathogenic |
Splice donor variant |
|
rs267608011 |
A>C,G |
Pathogenic |
Splice acceptor variant |
|
rs267608012 |
A>C,G |
Likely-pathogenic, likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance |
Intron variant |
|
rs267608016 |
T>A |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Coding sequence variant, non coding transcript variant, missense variant |
|
rs267608017 |
G>C,T |
Likely-pathogenic, pathogenic |
Intron variant |
|
rs267608018 |
T>C |
Likely-pathogenic |
Intron variant |
|
rs267608019 |
G>A,T |
Likely-pathogenic, pathogenic |
Splice donor variant |
|
rs267608020 |
G>A,C,T |
Likely-pathogenic, pathogenic, uncertain-significance |
Intron variant, splice acceptor variant |
|
rs267608022 |
C>G,T |
Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity |
Coding sequence variant, intron variant, missense variant |
|
rs281864944 |
AA>-,A |
Pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
|
rs368596736 |
T>G |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Intron variant |
|
rs369670665 |
T>C,G |
Pathogenic, likely-benign |
Synonymous variant, stop gained, non coding transcript variant, coding sequence variant |
|
rs369853630 |
G>A |
Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance |
Intron variant |
|
rs370807334 |
A>G |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Intron variant |
|
rs370970617 |
C>G,T |
Pathogenic, likely-pathogenic |
Stop gained, non coding transcript variant, coding sequence variant, missense variant |
|
rs371614039 |
A>G |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Non coding transcript variant, coding sequence variant, missense variant |
|
rs371776176 |
G>A,C,T |
Pathogenic, uncertain-significance |
Stop gained, non coding transcript variant, coding sequence variant, missense variant |
|
rs372350768 |
G>A,C |
Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance |
Synonymous variant, non coding transcript variant, coding sequence variant, missense variant |
|
rs373226409 |
G>A,C |
Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance |
Non coding transcript variant, coding sequence variant, missense variant |
|
rs375561490 |
G>A,C,T |
Pathogenic, uncertain-significance |
Stop gained, non coding transcript variant, intron variant, missense variant, coding sequence variant |
|
rs376796243 |
G>C |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Intron variant |
|
rs377345366 |
G>A,T |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant, non coding transcript variant |
|
rs377403073 |
G>A |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant, non coding transcript variant |
|
rs530814648 |
G>A |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant, non coding transcript variant |
|
rs541623924 |
->T |
Likely-pathogenic, uncertain-significance |
Splice donor variant |
|
rs549467183 |
G>A |
Uncertain-significance, likely-benign, benign-likely-benign, conflicting-interpretations-of-pathogenicity |
Non coding transcript variant, missense variant, coding sequence variant |
|
rs551060742 |
C>T |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Stop gained, intron variant, coding sequence variant |
|
rs587779063 |
A>T |
Pathogenic |
Stop gained, non coding transcript variant, coding sequence variant |
|
rs587779064 |
C>-,CC |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
|
rs587779065 |
G>A,C,T |
Pathogenic, uncertain-significance |
Missense variant, non coding transcript variant, coding sequence variant |
|
rs587779067 |
C>G,T |
Pathogenic, likely-pathogenic |
Missense variant, non coding transcript variant, coding sequence variant |
|
rs587779068 |
G>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
|
rs587779070 |
A>T |
Pathogenic |
Stop gained, non coding transcript variant, coding sequence variant |
|
rs587779073 |
G>- |
Pathogenic |
Stop gained, non coding transcript variant, coding sequence variant |
|
rs587779075 |
C>T |
Pathogenic |
Stop gained, non coding transcript variant, coding sequence variant |
|
rs587779076 |
CT>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
|
rs587779079 |
GTTAT>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
|
rs587779082 |
CTC>- |
Conflicting-interpretations-of-pathogenicity, likely-pathogenic, uncertain-significance |
Inframe deletion, non coding transcript variant, coding sequence variant |
|
rs587779083 |
CT>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
|
rs587779084 |
T>C |
Pathogenic, conflicting-interpretations-of-pathogenicity |
Missense variant, non coding transcript variant, coding sequence variant |
|
rs587779087 |
T>A,C |
Pathogenic, not-provided, likely-benign, uncertain-significance |
Intron variant |
|
rs587779088 |
G>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
|
rs587779089 |
G>T |
Pathogenic |
Stop gained, non coding transcript variant, coding sequence variant |
|
rs587779091 |
->TC |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
|
rs587779092 |
A>G,T |
Pathogenic |
Missense variant, non coding transcript variant, coding sequence variant, stop gained |
|
rs587779093 |
T>A,C |
Pathogenic, uncertain-significance |
Stop gained, non coding transcript variant, coding sequence variant, missense variant |
|
rs587779094 |
->C |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
|
rs587779097 |
C>T |
Pathogenic |
Stop gained, non coding transcript variant, coding sequence variant |
|
rs587779101 |
T>C,G |
Likely-pathogenic, uncertain-significance |
Missense variant, non coding transcript variant, coding sequence variant |
|
rs587779102 |
G>A,C,T |
Pathogenic, uncertain-significance |
Intron variant, missense variant, stop gained, non coding transcript variant, coding sequence variant |
|
rs587779103 |
->T |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
|
rs587779104 |
A>T |
Pathogenic |
Stop gained, non coding transcript variant, coding sequence variant |
|
rs587779105 |
->A |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
|
rs587779106 |
->T |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
|
rs587779108 |
G>A,C,T |
Pathogenic-likely-pathogenic, pathogenic, likely-pathogenic |
Splice donor variant |
|
rs587779110 |
G>A |
Pathogenic-likely-pathogenic, likely-pathogenic |
Splice acceptor variant |
|
rs587779111 |
->A |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
|
rs587779112 |
T>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
|
rs587779114 |
->A |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
|
rs587779117 |
GT>- |
Pathogenic |
Stop gained, non coding transcript variant, coding sequence variant |
|
rs587779118 |
->ACTT |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
|
rs587779119 |
TA>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
|
rs587779120 |
AACA>- |
Pathogenic, likely-pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
|
rs587779121 |
CA>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
|
rs587779122 |
GA>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
|
rs587779123 |
TAAAAAACCTG>- |
Likely-pathogenic |
Splice donor variant, intron variant |
|
rs587779124 |
T>- |
Likely-pathogenic |
Splice donor variant |
|
rs587779125 |
AAAAAACCTGGT>- |
Likely-pathogenic, uncertain-significance |
Intron variant, splice donor variant, coding sequence variant, non coding transcript variant |
|
rs587779127 |
T>A |
Likely-pathogenic |
Missense variant, non coding transcript variant, coding sequence variant |
|
rs587779129 |
AT>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
|
rs587779131 |
TG>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
|
rs587779133 |
T>C |
Likely-pathogenic, uncertain-significance |
Missense variant, non coding transcript variant, coding sequence variant |
|
rs587779135 |
GGGTGTTT>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
|
rs587779136 |
C>G,T |
Pathogenic, uncertain-significance |
Stop gained, non coding transcript variant, coding sequence variant, missense variant |
|
rs587779138 |
T>G |
Pathogenic |
Intron variant |
|
rs587779139 |
C>G,T |
Pathogenic, uncertain-significance |
Missense variant, non coding transcript variant, coding sequence variant, stop gained |
|
rs587779140 |
->T |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
|
rs587779143 |
G>A |
Pathogenic |
Stop gained, non coding transcript variant, coding sequence variant |
|
rs587779144 |
->C |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
|
rs587779145 |
A>T |
Pathogenic |
Stop gained, non coding transcript variant, coding sequence variant |
|
rs587779146 |
->CATGTTGCAGAGCT |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
|
rs587779147 |
AA>A,T |
Pathogenic |
Stop gained, non coding transcript variant, coding sequence variant, frameshift variant |
|
rs587779148 |
AG>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
|
rs587779149 |
C>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
|
rs587779151 |
ATCAT>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
|
rs587779152 |
T>A |
Pathogenic |
Stop gained, non coding transcript variant, coding sequence variant |
|
rs587779153 |
C>G,T |
Likely-pathogenic |
Intron variant |
|
rs587779157 |
GAAGTT>- |
Likely-pathogenic, uncertain-significance |
Inframe deletion, non coding transcript variant, coding sequence variant |
|
rs587779159 |
->T |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
|
rs587779163 |
T>G |
Likely-pathogenic |
Missense variant, non coding transcript variant, coding sequence variant |
|
rs587779164 |
TG>- |
Pathogenic, likely-pathogenic |
Stop gained, non coding transcript variant, coding sequence variant, inframe indel |
|
rs587779165 |
CTC>- |
Pathogenic, likely-pathogenic |
Inframe deletion, non coding transcript variant, coding sequence variant |
|
rs587779166 |
G>A,T |
Pathogenic |
Missense variant, non coding transcript variant, coding sequence variant, stop gained |
|
rs587779167 |
T>A |
Pathogenic, uncertain-significance |
Missense variant, non coding transcript variant, coding sequence variant |
|
rs587779168 |
A>G |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Intron variant |
|
rs587779169 |
A>G |
Likely-pathogenic |
Splice acceptor variant |
|
rs587779170 |
C>T |
Pathogenic |
Stop gained, non coding transcript variant, coding sequence variant |
|
rs587779172 |
AGAAA>TAAT |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
|
rs587779173 |
A>T |
Pathogenic |
Stop gained, non coding transcript variant, coding sequence variant |
|
rs587779174 |
G>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
|
rs587779175 |
->A |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
|
rs587779176 |
->A |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
|
rs587779177 |
->C |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
|
rs587779179 |
A>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
|
rs587779181 |
->CT |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
|
rs587779182 |
TG>- |
Likely-pathogenic |
5 prime UTR variant, genic upstream transcript variant, upstream transcript variant |
|
rs587779185 |
TCTG>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
|
rs587779188 |
G>- |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
|
rs587779189 |
A>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
|
rs587779190 |
G>C,T |
Pathogenic |
Missense variant, non coding transcript variant, coding sequence variant, stop gained |
|
rs587779191 |
GACT>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
|
rs587779192 |
C>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
|
rs587779193 |
G>A,T |
Pathogenic, pathogenic-likely-pathogenic, likely-pathogenic |
Splice donor variant |
|
rs587779194 |
T>- |
Likely-pathogenic |
Splice donor variant |
|
rs587779195 |
T>A,C,G |
Pathogenic, likely-pathogenic |
Splice donor variant |
|
rs587779197 |
G>A,T |
Pathogenic, likely-pathogenic |
Missense variant, non coding transcript variant, synonymous variant, coding sequence variant |
|
rs587779198 |
A>G |
Pathogenic, likely-pathogenic |
Splice acceptor variant |
|
rs587779964 |
G>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
|
rs587779969 |
C>A,T |
Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance |
Intron variant, missense variant, coding sequence variant |
|
rs587779976 |
C>G,T |
Pathogenic, uncertain-significance |
Intron variant, missense variant, stop gained, non coding transcript variant, coding sequence variant |
|
rs587779979 |
A>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
|
rs587781314 |
T>G |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Missense variant, non coding transcript variant, coding sequence variant |
|
rs587781627 |
A>G,T |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Missense variant, non coding transcript variant, coding sequence variant |
|
rs587781678 |
G>A,C |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Missense variant, non coding transcript variant, coding sequence variant |
|
rs587781795 |
G>C |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Missense variant, non coding transcript variant, coding sequence variant |
|
rs587781996 |
G>A,T |
Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance, not-provided |
Missense variant, non coding transcript variant, coding sequence variant |
|
rs587782278 |
C>T |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Missense variant, non coding transcript variant, coding sequence variant |
|
rs587782408 |
T>C,G |
Likely-pathogenic |
Splice donor variant |
|
rs587782537 |
GAAA>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
|
rs587782561 |
->TTCT |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
|
rs587782659 |
G>A,C |
Likely-pathogenic |
Missense variant, non coding transcript variant, coding sequence variant |
|
rs587782777 |
T>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
|
rs587783053 |
A>- |
Likely-pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
|
rs587783055 |
->A |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
|
rs730881755 |
T>C,G |
Pathogenic, uncertain-significance |
Missense variant, non coding transcript variant, coding sequence variant, stop gained |
|
rs730881758 |
A>T |
Pathogenic |
Stop gained, non coding transcript variant, coding sequence variant |
|
rs730881762 |
C>G,T |
Pathogenic, uncertain-significance |
Missense variant, non coding transcript variant, coding sequence variant, stop gained |
|
rs730881774 |
->A |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
|
rs730881775 |
->A |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
|
rs730881776 |
ATGC>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
|
rs730881783 |
A>T |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Intron variant |
|
rs730881784 |
C>A,G,T |
Pathogenic, benign-likely-benign, likely-benign |
Synonymous variant, 5 prime UTR variant, stop gained, non coding transcript variant, coding sequence variant |
|
rs747700106 |
G>A,C |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Missense variant, non coding transcript variant, coding sequence variant |
|
rs748554540 |
A>G |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Intron variant |
|
rs749660228 |
A>C,G |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Coding sequence variant, non coding transcript variant, missense variant |
|
rs752606387 |
C>T |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Intron variant |
|
rs753075410 |
T>A,C,G |
Uncertain-significance, likely-pathogenic |
Coding sequence variant, non coding transcript variant, missense variant |
|
rs755501968 |
A>G |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant, non coding transcript variant |
|
rs755583143 |
TAAAA>- |
Likely-pathogenic |
Splice donor variant, intron variant |
|
rs759263820 |
G>A,C,T |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant, non coding transcript variant |
|
rs763872353 |
T>A,C |
Pathogenic, likely-benign |
Synonymous variant, coding sequence variant, stop gained, non coding transcript variant |
|
rs770110491 |
A>G,T |
Pathogenic, uncertain-significance |
Non coding transcript variant, coding sequence variant, missense variant, stop gained |
|
rs771255106 |
A>G,T |
Pathogenic |
5 prime UTR variant, missense variant, stop gained, coding sequence variant, non coding transcript variant |
|
rs772491283 |
G>A,C |
Pathogenic, uncertain-significance |
Non coding transcript variant, coding sequence variant, missense variant |
|
rs775464903 |
A>G,T |
Uncertain-significance, likely-pathogenic |
Missense variant, non coding transcript variant, coding sequence variant |
|
rs786201066 |
C>T |
Pathogenic |
Coding sequence variant, non coding transcript variant, stop gained |
|
rs786201590 |
T>G |
Pathogenic, uncertain-significance |
Coding sequence variant, non coding transcript variant, missense variant |
|
rs786201822 |
G>A |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, non coding transcript variant, missense variant |
|
rs786202037 |
A>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
|
rs786202083 |
G>A,C,T |
Pathogenic, uncertain-significance |
Coding sequence variant, non coding transcript variant, stop gained, missense variant |
|
rs786202790 |
T>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
|
rs786202843 |
C>G,T |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Intron variant |
|
rs786203036 |
T>A,G |
Pathogenic |
Coding sequence variant, non coding transcript variant, stop gained |
|
rs786203350 |
->AT |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
|
rs786203424 |
T>A,G |
Pathogenic |
Coding sequence variant, non coding transcript variant, stop gained |
|
rs786203604 |
->G |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
|
rs786203704 |
->G |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
|
rs786204050 |
G>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
|
rs786204082 |
G>A |
Likely-pathogenic, pathogenic |
Coding sequence variant, non coding transcript variant, missense variant |
|
rs786204144 |
->A |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
|
rs786204319 |
->A |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
|
rs786204321 |
C>T |
Pathogenic |
Coding sequence variant, non coding transcript variant, stop gained |
|
rs796532309 |
T>-,TT |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
|
rs863224481 |
CGAGGACGCGCTGC>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant, intron variant |
|
rs863224833 |
->T |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
|
rs863225385 |
G>- |
Likely-pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
|
rs863225386 |
A>C,T |
Likely-pathogenic, uncertain-significance |
Stop gained, coding sequence variant, non coding transcript variant, missense variant |
|
rs863225387 |
C>G,T |
Likely-pathogenic, pathogenic, uncertain-significance |
Stop gained, coding sequence variant, non coding transcript variant, missense variant |
|
rs863225388 |
TATACAGGCTCTGGAAAA>AGTT |
Pathogenic-likely-pathogenic, pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
|
rs863225389 |
A>- |
Likely-pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
|
rs863225390 |
A>-,AA |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
|
rs863225391 |
TG>- |
Likely-pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
|
rs863225392 |
->A |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
|
rs863225393 |
->TA |
Likely-pathogenic, pathogenic |
Coding sequence variant, non coding transcript variant, stop gained |
|
rs863225394 |
T>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
|
rs863225395 |
C>G |
Likely-pathogenic, pathogenic |
Coding sequence variant, non coding transcript variant, stop gained |
|
rs863225396 |
G>A,T |
Likely-pathogenic, uncertain-significance |
Stop gained, coding sequence variant, non coding transcript variant, missense variant |
|
rs863225397 |
G>A |
Likely-pathogenic, pathogenic-likely-pathogenic |
Splice acceptor variant |
|
rs864622093 |
T>C |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Coding sequence variant, non coding transcript variant, missense variant |
|
rs864622121 |
GT>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
|
rs864622183 |
G>A,T |
Pathogenic, uncertain-significance |
Stop gained, coding sequence variant, non coding transcript variant, missense variant |
|
rs864622261 |
AAT>TG |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
|
rs864622340 |
T>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
|
rs864622436 |
TTCGATTTGCAGCAAATTGACTTCTTTA>- |
Likely-pathogenic |
Splice acceptor variant, coding sequence variant, non coding transcript variant, intron variant |
|
rs869312768 |
->TT |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
|
rs869312796 |
C>G,T |
Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance |
Coding sequence variant, non coding transcript variant, missense variant, synonymous variant |
|
rs876657701 |
C>T |
Pathogenic |
Coding sequence variant, non coding transcript variant, stop gained |
|
rs876658187 |
G>A,T |
Pathogenic, uncertain-significance |
Stop gained, coding sequence variant, non coding transcript variant, missense variant |
|
rs876658211 |
->A |
Likely-pathogenic, conflicting-interpretations-of-pathogenicity, uncertain-significance |
Frameshift variant, coding sequence variant, intron variant |
|
rs876658223 |
G>T |
Pathogenic |
Coding sequence variant, non coding transcript variant, stop gained |
|
rs876658834 |
TT>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
|
rs876658918 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
|
rs876658940 |
->A |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
|
rs876658996 |
T>A,C,G |
Likely-pathogenic, pathogenic |
Splice donor variant |
|
rs876659961 |
T>CA |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
|
rs876660297 |
G>A,T |
Pathogenic, uncertain-significance |
Stop gained, coding sequence variant, non coding transcript variant, missense variant |
|
rs876660480 |
G>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant, intron variant |
|
rs876660533 |
GGAGCAAAGAA>CAC |
Pathogenic |
Splice acceptor variant, coding sequence variant, non coding transcript variant |
|
rs876660546 |
T>C,G |
Pathogenic |
Splice donor variant |
|
rs876660655 |
T>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
|
rs878853797 |
C>A,T |
Likely-pathogenic, uncertain-significance |
Coding sequence variant, stop gained, intron variant, non coding transcript variant, missense variant |
|
rs878853802 |
CCTTGTA>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
|
rs878853809 |
GTCA>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
|
rs878853815 |
G>T |
Pathogenic-likely-pathogenic, pathogenic |
Coding sequence variant, non coding transcript variant, stop gained |
|
rs878853824 |
C>T |
Pathogenic |
Coding sequence variant, non coding transcript variant, stop gained |
|
rs879253899 |
T>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
|
rs879254025 |
TATTTGG>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
|
rs879254104 |
T>G |
Pathogenic |
Coding sequence variant, non coding transcript variant, stop gained |
|
rs879254204 |
G>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
|
rs879254234 |
G>A,C |
Likely-pathogenic, uncertain-significance |
Coding sequence variant, non coding transcript variant, missense variant |
|
rs886041613 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs890172773 |
G>A,C,T |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Synonymous variant, coding sequence variant, non coding transcript variant, intron variant |
|
rs905179122 |
C>G,T |
Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity |
Intron variant |
|
rs937218360 |
T>A,C |
Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance |
Synonymous variant, missense variant, non coding transcript variant, coding sequence variant |
|
rs979212552 |
C>G,T |
Uncertain-significance, pathogenic |
Non coding transcript variant, coding sequence variant, missense variant, stop gained |
|
rs1057517762 |
TCTTAACCGA>- |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs1057520735 |
C>G,T |
Uncertain-significance, pathogenic |
Missense variant, coding sequence variant, stop gained, non coding transcript variant |
|
rs1057524910 |
GAAA>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs1060501989 |
C>T |
Pathogenic |
Coding sequence variant, stop gained, non coding transcript variant |
|
rs1060501991 |
G>A,C |
Likely-pathogenic |
Splice acceptor variant |
|
rs1060501993 |
T>C |
Likely-pathogenic |
Splice donor variant |
|
rs1060501994 |
G>A,C,T |
Uncertain-significance, pathogenic |
Missense variant, coding sequence variant, stop gained, non coding transcript variant |
|
rs1060502000 |
GCCG>- |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant, intron variant |
|
rs1060502001 |
A>T |
Pathogenic |
Coding sequence variant, stop gained, non coding transcript variant, intron variant |
|
rs1060502023 |
T>C |
Likely-pathogenic, pathogenic |
Splice donor variant |
|
rs1060502027 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs1060502029 |
GAAG>AAA |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs1060502032 |
G>T |
Pathogenic |
Coding sequence variant, stop gained, non coding transcript variant |
|
rs1060502035 |
->T,TT |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs1060502039 |
T>- |
Pathogenic |
Coding sequence variant, stop gained, non coding transcript variant |
|
rs1060504409 |
A>G |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Intron variant |
|
rs1064792951 |
TGAAAAAATTATTCAGG>- |
Pathogenic |
Coding sequence variant, frameshift variant, intron variant |
|
rs1064793561 |
ACTT>- |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs1064793863 |
->TGTACCGCAGATT |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs1064794071 |
TTGACTT>- |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs1064794155 |
G>- |
Likely-pathogenic, pathogenic |
Splice donor variant, coding sequence variant, non coding transcript variant |
|
rs1064794809 |
C>- |
Pathogenic |
Coding sequence variant, stop gained, non coding transcript variant |
|
rs1064795063 |
G>A,T |
Uncertain-significance, pathogenic |
Missense variant, coding sequence variant, stop gained, non coding transcript variant |
|
rs1064795127 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs1064795264 |
CGCGGCCGAG>- |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant, intron variant |
|
rs1064795329 |
AGGCTATGTAGAACCAATGCAGACAC>- |
Likely-pathogenic |
Splice acceptor variant, coding sequence variant, non coding transcript variant, intron variant |
|
rs1064795653 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs1085308057 |
A>G |
Likely-pathogenic, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant, non coding transcript variant |
|
rs1114167805 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs1114167806 |
ATGA>-,ATGAATGA |
Pathogenic |
Non coding transcript variant, frameshift variant, inframe indel, coding sequence variant, stop gained |
|
rs1114167807 |
TTTATCA>- |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs1114167808 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs1114167809 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs1114167810 |
->T |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs1114167811 |
T>G |
Pathogenic |
Coding sequence variant, stop gained, non coding transcript variant |
|
rs1114167812 |
CC>-,C |
Pathogenic |
Frameshift variant, coding sequence variant, stop gained, non coding transcript variant |
|
rs1114167813 |
->T |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs1114167814 |
->C |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs1114167815 |
->A |
Likely-pathogenic, pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs1114167816 |
G>C,T |
Uncertain-significance, pathogenic |
Missense variant, coding sequence variant, stop gained, non coding transcript variant |
|
rs1114167817 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs1114167818 |
A>C,G,T |
Likely-pathogenic, uncertain-significance |
Splice acceptor variant, intron variant |
|
rs1114167820 |
AGAAAAAGTCC>T |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs1114167821 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs1114167823 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs1114167824 |
->T |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs1114167825 |
CCAC>- |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs1114167826 |
ATAA>- |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs1114167828 |
GT>- |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs1114167829 |
A>CGG |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs1114167830 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs1114167831 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs1114167832 |
->TACCA |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs1114167833 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs1114167835 |
AA>- |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs1114167836 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs1114167837 |
->C |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs1114167839 |
T>A |
Pathogenic |
Coding sequence variant, stop gained, non coding transcript variant |
|
rs1114167841 |
TTATA>- |
Likely-pathogenic, pathogenic |
Splice acceptor variant, intron variant |
|
rs1114167844 |
->T |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs1114167845 |
C>A,T |
Pathogenic |
Missense variant, coding sequence variant, stop gained, non coding transcript variant |
|
rs1114167848 |
ACTGA>- |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs1114167850 |
->T |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs1114167851 |
ATAGATAATTCAAA>- |
Pathogenic |
Splice acceptor variant, coding sequence variant, non coding transcript variant, intron variant |
|
rs1114167852 |
G>A |
Likely-pathogenic |
Splice donor variant |
|
rs1114167853 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs1114167854 |
C>G |
Pathogenic |
Coding sequence variant, stop gained, non coding transcript variant |
|
rs1114167855 |
->GC |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs1114167856 |
GC>- |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs1114167857 |
T>C |
Likely-pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
|
rs1114167858 |
->AG |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs1114167860 |
->T |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs1114167862 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs1114167863 |
AAGAATCTGCA>- |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs1114167864 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs1114167866 |
G>C,T |
Uncertain-significance, pathogenic |
Missense variant, coding sequence variant, stop gained, non coding transcript variant |
|
rs1114167867 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs1114167870 |
T>G |
Likely-pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
|
rs1114167872 |
GC>T |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs1114167874 |
T>- |
Pathogenic |
Coding sequence variant, stop gained, non coding transcript variant |
|
rs1114167876 |
->T |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs1114167877 |
GTGTGAAT>- |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs1114167879 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs1114167880 |
A>T |
Pathogenic |
Coding sequence variant, stop gained, intron variant |
|
rs1114167882 |
GTTGA>TTTC |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs1114167883 |
G>T |
Pathogenic |
Splice donor variant |
|
rs1114167884 |
TG>A |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs1114167885 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs1114167888 |
G>C |
Pathogenic |
Splice acceptor variant |
|
rs1114167890 |
GG>TA |
Likely-pathogenic |
Splice donor variant, coding sequence variant, non coding transcript variant |
|
rs1131692279 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs1194793421 |
G>- |
Likely-pathogenic |
Coding sequence variant, splice donor variant, non coding transcript variant |
|
rs1230083633 |
G>A,C,T |
Pathogenic, uncertain-significance |
Missense variant, stop gained, intron variant, coding sequence variant |
|
rs1278858560 |
T>C |
Likely-pathogenic |
Splice donor variant |
|
rs1553348668 |
->G |
Pathogenic |
Non coding transcript variant, intron variant, frameshift variant, coding sequence variant |
|
rs1553348760 |
C>- |
Pathogenic, likely-pathogenic |
Non coding transcript variant, intron variant, frameshift variant, coding sequence variant |
|
rs1553348794 |
C>- |
Pathogenic |
Non coding transcript variant, intron variant, frameshift variant, coding sequence variant |
|
rs1553348842 |
->G |
Pathogenic |
Non coding transcript variant, intron variant, frameshift variant, coding sequence variant |
|
rs1553348882 |
A>- |
Pathogenic |
5 prime UTR variant, non coding transcript variant, coding sequence variant, frameshift variant |
|
rs1553348896 |
->C |
Pathogenic |
5 prime UTR variant, non coding transcript variant, coding sequence variant, frameshift variant |
|
rs1553348898 |
->TC |
Pathogenic |
5 prime UTR variant, non coding transcript variant, coding sequence variant, frameshift variant |
|
rs1553348901 |
GGCAGGTGAGGGCCGGGACGGCGCGTGCTGGGGAGGGACCCGGGGCC>- |
Likely-pathogenic |
Splice donor variant, coding sequence variant, initiator codon variant, intron variant, non coding transcript variant |
|
rs1553348904 |
C>- |
Pathogenic |
Non coding transcript variant, frameshift variant, coding sequence variant |
|
rs1553350052 |
AGCAAAGAATCTGCAGAGTGTTGTGCTTAGTAAAATGAATTTTGAATCTTTTGTAAAAGATCTTCTTCTGGTTCGTCAGTATAGAGTTGAAGTTTATAAGAATAGAGCTGGAAATAAGGCATCCAAGGAGAATGATTGGTATTTGGCATATAAGG>- |
Pathogenic |
Splice acceptor variant, splice donor variant, coding sequence variant, intron variant, non coding transcript variant |
|
rs1553350126 |
->AAGATCTTCTTCTGGTTCGTCA |
Pathogenic |
Non coding transcript variant, frameshift variant, coding sequence variant |
|
rs1553350167 |
TA>- |
Pathogenic |
Non coding transcript variant, stop gained, coding sequence variant, inframe indel |
|
rs1553350250 |
T>G |
Pathogenic, likely-pathogenic |
Non coding transcript variant, stop gained, coding sequence variant |
|
rs1553350466 |
GGCCAGGACGGTCTCGATCTCCTGACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACAGCACTCAGCCAGTTATTTTTTTATAAGAAAACATTTTACTGGCCAGGCCTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAT |
Pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, splice acceptor variant |
|
rs1553350680 |
AT>- |
Pathogenic |
Non coding transcript variant, frameshift variant, coding sequence variant |
|
rs1553350721 |
T>- |
Pathogenic |
Non coding transcript variant, frameshift variant, coding sequence variant |
|
rs1553350758 |
A>- |
Pathogenic |
Non coding transcript variant, frameshift variant, coding sequence variant |
|
rs1553350787 |
->G |
Pathogenic |
Non coding transcript variant, frameshift variant, coding sequence variant |
|
rs1553350789 |
->AGGAAACTAGGACTGTGTGAATTCCCTGATAATGATCAGTTCTCCAATCTTGAGGCTCTCCTCATCCAGATTG |
Pathogenic |
Non coding transcript variant, stop gained, coding sequence variant, inframe indel |
|
rs1553350946 |
->GAGA |
Pathogenic |
Non coding transcript variant, frameshift variant, coding sequence variant |
|
rs1553350966 |
AT>- |
Pathogenic |
Non coding transcript variant, frameshift variant, coding sequence variant |
|
rs1553351549 |
GATA>- |
Pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, splice acceptor variant |
|
rs1553351651 |
->G |
Pathogenic |
Non coding transcript variant, frameshift variant, coding sequence variant |
|
rs1553352366 |
TTTTAGGTTGCAGTTTCATCACTGTCTGCGGTAATCAAGTTTTTAGAACTCTTATCAGATGATTCCAACTTTGGACAGTTTGAACTGACTACTTTTGACTTCAGCCAGTATATGAAATTGGATATTGCAGCAGTCAGAGCCCTTAACCTTTTTCAGGTAAAAAAAAAAAAAAAAAAAAAAAAAAAGGGTTAAAAATGTTGAATGGTTAAAAAATGTTTTCATTGACATATACTGAAGAAGCTTATAAAGGAGCTA |
Pathogenic |
Splice acceptor variant, splice donor variant, coding sequence variant, intron variant, non coding transcript variant |
|
rs1553352462 |
ATGA>- |
Likely-pathogenic |
Non coding transcript variant, frameshift variant, coding sequence variant |
|
rs1553352474 |
T>- |
Pathogenic |
Non coding transcript variant, frameshift variant, coding sequence variant |
|
rs1553352505 |
->T |
Pathogenic |
Non coding transcript variant, frameshift variant, coding sequence variant |
|
rs1553353114 |
ACTGGCTCTCAGTCTCTGGCTGCCTTGCTGAATAAGTGTAAAACCC>- |
Pathogenic, likely-pathogenic |
Non coding transcript variant, frameshift variant, coding sequence variant |
|
rs1553353167 |
T>G |
Pathogenic |
Non coding transcript variant, coding sequence variant, missense variant |
|
rs1553353233 |
C>- |
Pathogenic |
Non coding transcript variant, frameshift variant, coding sequence variant |
|
rs1553356484 |
->GAGCCACTGCGCCCAGCAGATTCAAGCTTTTTAAATGGAATTTTGAGCTGATTTAGTTGAGACTTACGTGCTTAGTTGATAAATTTTAATTTTATACTAAAATATTTTACATTAATTCAAGTTAATTTATTTCAGATTGAATTTAGTGGAAGCTTTTGTAGAAGATGCAGAATTGAGGCAGACTTTACAAGAAGATTTACTTCGTCGATTCCCAGATCTTAACCGACTTGCCAAGAAGTTTCAAAGACAAGCA |
Pathogenic |
Splice acceptor variant, splice donor variant, coding sequence variant, intron variant, non coding transcript variant |
|
rs1553356518 |
ATTGAATTTAGTGGAAGCTTTTGTAGAAGATGCAGAATTGAGGCAGACTTTACAAGAAGATTTACTTCGTCGATTCCCAGATCTTAACCGACTTGCCAAGAAGTTTCAAAGACAAGCAGCAAACTTACAAGATTGTTACCGACTCTATCAGGGTATAAATCAACTACCTAATGTTATACAGGCTCTGGAAAAACATGAAG>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, splice acceptor variant |
|
rs1553356594 |
T>- |
Pathogenic |
Non coding transcript variant, frameshift variant, coding sequence variant |
|
rs1553356605 |
C>- |
Pathogenic |
Non coding transcript variant, frameshift variant, coding sequence variant |
|
rs1553356643 |
GA>- |
Pathogenic |
Non coding transcript variant, frameshift variant, coding sequence variant |
|
rs1553356678 |
A>- |
Pathogenic |
Non coding transcript variant, frameshift variant, coding sequence variant |
|
rs1553356700 |
G>- |
Pathogenic |
Non coding transcript variant, frameshift variant, coding sequence variant |
|
rs1553356720 |
->ATGTTATACAG |
Pathogenic |
Non coding transcript variant, frameshift variant, coding sequence variant |
|
rs1553361141 |
AAAACACCAGAAATTATTGTTGGCAGTTTTTGTGACTCCTCTTACTGATCTTCGTTCTGACTTCTCCAAGTTTCAGGAAATGATAGAAACAACTTTAGATATGGATCAGG>- |
Pathogenic |
Splice donor variant, non coding transcript variant, coding sequence variant, splice acceptor variant |
|
rs1553361162 |
->A |
Pathogenic |
Non coding transcript variant, frameshift variant, coding sequence variant |
|
rs1553361231 |
TT>- |
Pathogenic |
Non coding transcript variant, frameshift variant, coding sequence variant |
|
rs1553361261 |
T>- |
Pathogenic |
Non coding transcript variant, frameshift variant, coding sequence variant |
|
rs1553361274 |
A>T |
Likely-pathogenic |
Non coding transcript variant, coding sequence variant, missense variant |
|
rs1553361289 |
T>- |
Pathogenic |
Non coding transcript variant, stop gained, coding sequence variant |
|
rs1553365711 |
A>-,AA |
Pathogenic, likely-pathogenic |
Non coding transcript variant, frameshift variant, coding sequence variant |
|
rs1553365719 |
A>- |
Pathogenic |
Non coding transcript variant, frameshift variant, coding sequence variant |
|
rs1553365799 |
A>- |
Pathogenic |
Non coding transcript variant, frameshift variant, coding sequence variant |
|
rs1553366510 |
C>- |
Pathogenic |
Non coding transcript variant, frameshift variant, coding sequence variant |
|
rs1553366522 |
AAACTGGATT>- |
Pathogenic |
Non coding transcript variant, frameshift variant, coding sequence variant |
|
rs1553366545 |
G>A |
Conflicting-interpretations-of-pathogenicity |
Non coding transcript variant, coding sequence variant, missense variant |
|
rs1553366554 |
T>- |
Pathogenic |
Non coding transcript variant, frameshift variant, coding sequence variant |
|
rs1553366561 |
->A |
Pathogenic |
Non coding transcript variant, frameshift variant, coding sequence variant |
|
rs1553366583 |
->T |
Pathogenic |
Non coding transcript variant, frameshift variant, coding sequence variant |
|
rs1553366642 |
->A |
Pathogenic |
Non coding transcript variant, frameshift variant, coding sequence variant |
|
rs1553366680 |
T>C |
Likely-pathogenic |
Splice donor variant |
|
rs1553367587 |
->A |
Pathogenic |
Non coding transcript variant, frameshift variant, coding sequence variant |
|
rs1553367608 |
->GA |
Pathogenic |
Non coding transcript variant, frameshift variant, coding sequence variant |
|
rs1553367635 |
CA>- |
Pathogenic |
Non coding transcript variant, frameshift variant, coding sequence variant |
|
rs1553367687 |
AA>- |
Pathogenic |
Non coding transcript variant, frameshift variant, coding sequence variant |
|
rs1553368518 |
->T |
Pathogenic |
Non coding transcript variant, frameshift variant, coding sequence variant |
|
rs1553368540 |
GTTAGCTCAG>- |
Pathogenic |
Non coding transcript variant, frameshift variant, coding sequence variant |
|
rs1553368570 |
->TGTTGTCA |
Pathogenic |
Non coding transcript variant, frameshift variant, coding sequence variant |
|
rs1553368590 |
T>A |
Likely-pathogenic |
Non coding transcript variant, coding sequence variant, missense variant |
|
rs1553368675 |
ATTG>- |
Pathogenic |
Non coding transcript variant, frameshift variant, coding sequence variant |
|
rs1553368731 |
T>A |
Likely-pathogenic |
Non coding transcript variant, coding sequence variant, synonymous variant |
|
rs1553368975 |
T>C,G |
Uncertain-significance, likely-pathogenic |
Intron variant |
|
rs1553368988 |
T>- |
Pathogenic |
Non coding transcript variant, frameshift variant, coding sequence variant |
|
rs1553369034 |
CTG>TT |
Pathogenic |
Non coding transcript variant, frameshift variant, coding sequence variant |
|
rs1553369051 |
->GGGTGATAGTACTCATGGCCCAAATTGGGTGTTTTGTGCCATGTGAGTCAGCAGAAGTGTCCAT |
Pathogenic |
Non coding transcript variant, stop gained, coding sequence variant, inframe indel |
|
rs1553369089 |
T>A |
Pathogenic |
Non coding transcript variant, stop gained, coding sequence variant |
|
rs1553369100 |
->G |
Pathogenic |
Non coding transcript variant, frameshift variant, coding sequence variant |
|
rs1553369113 |
A>- |
Pathogenic |
Non coding transcript variant, frameshift variant, coding sequence variant |
|
rs1553369131 |
G>- |
Pathogenic |
Non coding transcript variant, frameshift variant, coding sequence variant |
|
rs1553369164 |
T>- |
Pathogenic |
Non coding transcript variant, frameshift variant, coding sequence variant |
|
rs1553369165 |
C>- |
Pathogenic |
Non coding transcript variant, frameshift variant, coding sequence variant |
|
rs1553369194 |
GAAATGTTGGAAACTGCT>- |
Likely-pathogenic |
Non coding transcript variant, coding sequence variant, inframe deletion |
|
rs1553369641 |
->A |
Pathogenic |
Non coding transcript variant, frameshift variant, coding sequence variant |
|
rs1553369665 |
AATTG>- |
Pathogenic |
Non coding transcript variant, frameshift variant, coding sequence variant |
|
rs1553369812 |
TG>CT |
Pathogenic |
Non coding transcript variant, stop gained, coding sequence variant |
|
rs1553370310 |
AA>- |
Pathogenic |
Non coding transcript variant, frameshift variant, coding sequence variant |
|
rs1553370324 |
->T |
Pathogenic |
Non coding transcript variant, frameshift variant, coding sequence variant |
|
rs1553370366 |
->A |
Pathogenic |
Non coding transcript variant, frameshift variant, coding sequence variant |
|
rs1553370371 |
->T |
Pathogenic |
Non coding transcript variant, stop gained, coding sequence variant |
|
rs1553370381 |
->CA |
Pathogenic |
Non coding transcript variant, frameshift variant, coding sequence variant |
|
rs1553370397 |
G>T |
Pathogenic |
Non coding transcript variant, stop gained, coding sequence variant |
|
rs1553370404 |
C>G,T |
Uncertain-significance, pathogenic |
Non coding transcript variant, stop gained, coding sequence variant, missense variant |
|
rs1553370431 |
->G |
Pathogenic |
Non coding transcript variant, frameshift variant, coding sequence variant |
|
rs1553370435 |
->A |
Pathogenic, likely-pathogenic |
Non coding transcript variant, stop gained, coding sequence variant |
|
rs1553370443 |
->A |
Pathogenic |
Non coding transcript variant, frameshift variant, coding sequence variant |
|
rs1558451119 |
AG>C |
Pathogenic |
Non coding transcript variant, intron variant, frameshift variant, coding sequence variant |
|
rs1558457533 |
T>C |
Pathogenic |
Splice donor variant |
|
rs1558458884 |
->A |
Pathogenic |
Non coding transcript variant, frameshift variant, coding sequence variant |
|
rs1558459096 |
->GT |
Pathogenic |
Non coding transcript variant, frameshift variant, coding sequence variant |
|
rs1558459882 |
C>- |
Pathogenic |
Non coding transcript variant, frameshift variant, coding sequence variant |
|
rs1558459885 |
A>- |
Pathogenic |
Non coding transcript variant, frameshift variant, coding sequence variant |
|
rs1558461615 |
->A |
Pathogenic |
Non coding transcript variant, frameshift variant, coding sequence variant |
|
rs1558461683 |
GA>- |
Pathogenic |
Non coding transcript variant, frameshift variant, coding sequence variant |
|
rs1558464008 |
G>A,T |
Uncertain-significance, pathogenic |
Non coding transcript variant, stop gained, coding sequence variant, missense variant |
|
rs1558466434 |
G>- |
Pathogenic |
Non coding transcript variant, frameshift variant, coding sequence variant |
|
rs1558466577 |
C>T |
Likely-pathogenic |
Non coding transcript variant, stop gained, coding sequence variant |
|
rs1558466685 |
CT>GC |
Likely-pathogenic |
Non coding transcript variant, coding sequence variant, missense variant |
|
rs1558466769 |
->GG |
Pathogenic |
Non coding transcript variant, frameshift variant, coding sequence variant |
|
rs1558478567 |
TTAC>- |
Pathogenic |
Non coding transcript variant, frameshift variant, coding sequence variant |
|
rs1558508067 |
C>- |
Pathogenic |
Non coding transcript variant, frameshift variant, coding sequence variant |
|
rs1558508343 |
->TT |
Pathogenic |
Non coding transcript variant, frameshift variant, coding sequence variant |
|
rs1558508399 |
TAAGAATGGGTCATTGGAGGTTGGAATAATTCTTTTGTCTATACACTGT>- |
Likely-pathogenic |
Splice donor variant, intron variant |
|
rs1558511051 |
A>- |
Likely-pathogenic |
Non coding transcript variant, frameshift variant, coding sequence variant |
|
rs1558511191 |
A>G,T |
Uncertain-significance, pathogenic |
Non coding transcript variant, stop gained, coding sequence variant, missense variant |
|
rs1558518449 |
ATGACGTA>- |
Pathogenic |
Non coding transcript variant, frameshift variant, coding sequence variant |
|
rs1558518588 |
G>- |
Likely-pathogenic |
Non coding transcript variant, frameshift variant, coding sequence variant |
|
rs1558518671 |
C>T |
Conflicting-interpretations-of-pathogenicity |
Intron variant |
|
rs1558519611 |
T>A |
Pathogenic |
Non coding transcript variant, stop gained, coding sequence variant |
|
rs1558521605 |
->GTAG |
Pathogenic |
Non coding transcript variant, stop gained, coding sequence variant, inframe insertion |
|
rs1558521949 |
T>- |
Pathogenic |
Non coding transcript variant, frameshift variant, coding sequence variant |
|
rs1573423412 |
C>- |
Pathogenic |
Coding sequence variant, non coding transcript variant, intron variant, frameshift variant |
|
rs1573424223 |
T>- |
Pathogenic |
Coding sequence variant, non coding transcript variant, 5 prime UTR variant, frameshift variant |
|
rs1573436369 |
TAAAATGAATTTTGAATCTTTTGTAAAAGAT>CTGACAAGCGCCTATAGCACTCGAATAATTCTTCTCACCCTAACAGGTCAGCCTCGCTTCCCAGCCCTCACTAACATTAACGAAAACAACCCACCCACTAAACCCCATTAAACGCCTAACAATCGGAAGCCTATTTTGCAGGGTTTCTCCATCACCAACAGCATTCTCCCCACATCCACCCCCCAAATGACAATCCCACTTTACTTAAAACTCACAG |
Pathogenic |
Coding sequence variant, non coding transcript variant, inframe indel, stop gained |
|
rs1573436948 |
T>- |
Pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
|
rs1573437173 |
T>A |
Likely-pathogenic |
Coding sequence variant, non coding transcript variant, stop gained |
|
rs1573440880 |
G>- |
Pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
|
rs1573441776 |
T>C,G |
Likely-pathogenic |
Coding sequence variant, non coding transcript variant, missense variant, synonymous variant |
|
rs1573442039 |
->A |
Pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
|
rs1573442100 |
CA>- |
Pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
|
rs1573446614 |
A>- |
Pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
|
rs1573446832 |
C>- |
Pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
|
rs1573451108 |
CT>- |
Pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
|
rs1573451595 |
AC>- |
Pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
|
rs1573451662 |
TCAGC>ACTTTTTCAGTATATGACTACTTTTGACTACTTTTT |
Pathogenic |
Coding sequence variant, non coding transcript variant, inframe indel, stop gained |
|
rs1573456772 |
A>- |
Pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
|
rs1573484655 |
->T |
Pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
|
rs1573485191 |
GGGTATAAATCA>- |
Likely-pathogenic, uncertain-significance |
Coding sequence variant, non coding transcript variant, inframe deletion |
|
rs1573519371 |
C>- |
Pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
|
rs1573547745 |
->C |
Pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
|
rs1573548065 |
->TT |
Pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
|
rs1573553178 |
A>T |
Pathogenic |
Coding sequence variant, non coding transcript variant, stop gained |
|
rs1573553636 |
A>- |
Pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
|
rs1573560283 |
C>- |
Pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
|
rs1573560572 |
->C |
Pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
|
rs1573566175 |
A>G |
Likely-pathogenic |
Splice acceptor variant |
|
rs1573566217 |
A>- |
Pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
|
rs1573566411 |
GTGTT>- |
Pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
|
rs1573566488 |
CAGCT>- |
Pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
|
rs1573566787 |
->TT |
Pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
|
rs1573566819 |
ATAT>- |
Pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
|
rs1573567022 |
AT>- |
Pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
|
rs1573567132 |
T>- |
Pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
|
rs1573567212 |
A>- |
Pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
|
rs1573567340 |
T>- |
Pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
|
rs1573567451 |
CT>AC |
Pathogenic |
Coding sequence variant, non coding transcript variant, inframe indel, stop gained |
|
rs1573567537 |
->A |
Pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
|
rs1573567630 |
C>- |
Pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
|
rs1573569948 |
T>- |
Pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
|
rs1573570621 |
G>- |
Pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
|
rs1573573619 |
->CAAA |
Pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
|
rs1573574024 |
T>- |
Pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
|
rs1573574086 |
C>G,T |
Likely-benign, pathogenic |
Coding sequence variant, non coding transcript variant, synonymous variant, stop gained |
|
rs1573574188 |
->T |
Pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
|
rs1573574436 |
A>- |
Pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
|
rs1573578423 |
G>- |
Pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
|
rs1573578439 |
G>- |
Pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
|
rs1573579206 |
G>T |
Pathogenic |
Coding sequence variant, non coding transcript variant, stop gained |
|
rs1573582750 |
G>- |
Likely-pathogenic |
Coding sequence variant, intron variant, frameshift variant |
