| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
|
rs1137887 |
G>A |
Pathogenic, pathogenic-likely-pathogenic |
Genic upstream transcript variant, synonymous variant, coding sequence variant, non coding transcript variant, genic downstream transcript variant |
|
rs1800054 |
C>G,T |
Risk-factor, benign-likely-benign, uncertain-significance |
Genic upstream transcript variant, missense variant, 5 prime UTR variant, coding sequence variant, non coding transcript variant |
|
rs1800055 |
T>C |
Likely-benign, benign, conflicting-interpretations-of-pathogenicity |
Genic upstream transcript variant, synonymous variant, coding sequence variant, non coding transcript variant, genic downstream transcript variant |
|
rs1800056 |
T>C |
Benign, conflicting-interpretations-of-pathogenicity, benign-likely-benign |
Genic upstream transcript variant, missense variant, coding sequence variant, non coding transcript variant, genic downstream transcript variant |
|
rs1800058 |
C>T |
Benign, conflicting-interpretations-of-pathogenicity, benign-likely-benign |
Missense variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant |
|
rs1801673 |
A>T |
Benign, conflicting-interpretations-of-pathogenicity, benign-likely-benign |
Missense variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant |
|
rs2227922 |
C>T |
Benign, conflicting-interpretations-of-pathogenicity, benign-likely-benign |
Genic upstream transcript variant, missense variant, coding sequence variant, non coding transcript variant, genic downstream transcript variant |
|
rs2229019 |
C>A,T |
Likely-benign, benign, pathogenic |
Genic upstream transcript variant, stop gained, coding sequence variant, non coding transcript variant, synonymous variant, genic downstream transcript variant |
|
rs2229021 |
G>A |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Missense variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant |
|
rs2229022 |
C>A,G,T |
Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance |
Genic upstream transcript variant, missense variant, coding sequence variant, non coding transcript variant, genic downstream transcript variant |
|
rs3092857 |
A>G |
Benign, pathogenic, benign-likely-benign |
Genic upstream transcript variant, missense variant, coding sequence variant, non coding transcript variant, genic downstream transcript variant |
|
rs3092907 |
G>C,T |
Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance |
Missense variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant |
|
rs4986761 |
T>C |
Benign, conflicting-interpretations-of-pathogenicity, benign-likely-benign |
Genic upstream transcript variant, missense variant, coding sequence variant, non coding transcript variant, genic downstream transcript variant |
|
rs4988008 |
C>T |
Benign, benign-likely-benign, conflicting-interpretations-of-pathogenicity |
Synonymous variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant |
|
rs34083085 |
T>A,C,G |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Missense variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant, intron variant, genic downstream transcript variant |
|
rs34231402 |
T>A |
Likely-benign, uncertain-significance, benign-likely-benign, conflicting-interpretations-of-pathogenicity |
Genic upstream transcript variant, non coding transcript variant, coding sequence variant, missense variant, genic downstream transcript variant |
|
rs34640941 |
A>G |
Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity |
Coding sequence variant, missense variant, genic downstream transcript variant, non coding transcript variant |
|
rs35184530 |
G>A |
Likely-benign, not-provided, conflicting-interpretations-of-pathogenicity |
Genic upstream transcript variant, non coding transcript variant, coding sequence variant, missense variant, genic downstream transcript variant |
|
rs35389822 |
A>G |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Genic upstream transcript variant, 5 prime UTR variant, non coding transcript variant, coding sequence variant, missense variant |
|
rs35578748 |
T>C |
Likely-benign, benign-likely-benign, conflicting-interpretations-of-pathogenicity |
Genic upstream transcript variant, 5 prime UTR variant, synonymous variant, non coding transcript variant, coding sequence variant, genic downstream transcript variant |
|
rs35963548 |
G>A,T |
Uncertain-significance, not-provided, conflicting-interpretations-of-pathogenicity |
Genic upstream transcript variant, non coding transcript variant, coding sequence variant, missense variant, genic downstream transcript variant |
|
rs55861249 |
C>A,T |
Likely-benign, pathogenic-likely-pathogenic, pathogenic |
Genic upstream transcript variant, stop gained, 5 prime UTR variant, synonymous variant, non coding transcript variant, coding sequence variant |
|
rs56006345 |
G>A |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Genic upstream transcript variant, intron variant, genic downstream transcript variant |
|
rs56075338 |
T>A |
Conflicting-interpretations-of-pathogenicity |
Intron variant, genic downstream transcript variant |
|
rs56123940 |
G>A |
Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity |
Genic upstream transcript variant, 5 prime UTR variant, non coding transcript variant, coding sequence variant, missense variant, genic downstream transcript variant |
|
rs56128736 |
T>C |
Benign-likely-benign, conflicting-interpretations-of-pathogenicity |
Missense variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant, intron variant, genic downstream transcript variant |
|
rs56252953 |
T>C,G |
Benign, uncertain-significance, benign-likely-benign, conflicting-interpretations-of-pathogenicity |
Genic upstream transcript variant, synonymous variant, non coding transcript variant, coding sequence variant, missense variant, genic downstream transcript variant |
|
rs61734354 |
A>G |
Benign, uncertain-significance, conflicting-interpretations-of-pathogenicity |
Genic upstream transcript variant, non coding transcript variant, coding sequence variant, missense variant, genic downstream transcript variant |
|
rs79431304 |
A>G,T |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Non coding transcript variant, genic upstream transcript variant, coding sequence variant, missense variant, genic downstream transcript variant |
|
rs80159221 |
A>G,T |
Pathogenic, uncertain-significance, likely-pathogenic |
Genic upstream transcript variant, genic downstream transcript variant, splice acceptor variant |
|
rs112805604 |
G>A |
Likely-pathogenic |
Splice donor variant, genic upstream transcript variant |
|
rs121434217 |
G>C |
Pathogenic |
Coding sequence variant, genic downstream transcript variant, non coding transcript variant, missense variant |
|
rs121434222 |
C>T |
Pathogenic |
Coding sequence variant, stop gained, genic downstream transcript variant, non coding transcript variant |
|
rs121434223 |
C>A,G |
Likely-benign, pathogenic |
Coding sequence variant, stop gained, genic downstream transcript variant, non coding transcript variant |
|
rs137882485 |
A>G |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Coding sequence variant, genic upstream transcript variant, 5 prime UTR variant, missense variant, non coding transcript variant |
|
rs138327406 |
T>G |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Coding sequence variant, genic downstream transcript variant, non coding transcript variant, missense variant |
|
rs139552233 |
T>C |
Conflicting-interpretations-of-pathogenicity, benign-likely-benign |
Genic downstream transcript variant, coding sequence variant, genic upstream transcript variant, missense variant, non coding transcript variant |
|
rs139893395 |
A>G |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Genic downstream transcript variant, coding sequence variant, genic upstream transcript variant, missense variant, non coding transcript variant |
|
rs140641762 |
C>T |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Genic downstream transcript variant, synonymous variant, coding sequence variant, 3 prime UTR variant, non coding transcript variant |
|
rs140856217 |
T>C |
Conflicting-interpretations-of-pathogenicity, uncertain-significance, benign-likely-benign |
Coding sequence variant, genic downstream transcript variant, non coding transcript variant, missense variant |
|
rs140882609 |
A>C |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Genic downstream transcript variant, coding sequence variant, genic upstream transcript variant, missense variant, non coding transcript variant |
|
rs141087784 |
C>A,T |
Likely-pathogenic, uncertain-significance, pathogenic |
Genic downstream transcript variant, coding sequence variant, stop gained, missense variant, non coding transcript variant |
|
rs142358238 |
G>A,T |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Coding sequence variant, genic upstream transcript variant, 5 prime UTR variant, missense variant, non coding transcript variant |
|
rs142455912 |
A>G |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Coding sequence variant, genic downstream transcript variant, non coding transcript variant, missense variant |
|
rs144535256 |
C>A,T |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Genic downstream transcript variant, coding sequence variant, genic upstream transcript variant, missense variant, non coding transcript variant |
|
rs144709948 |
C>T |
Likely-benign, conflicting-interpretations-of-pathogenicity, benign-likely-benign |
Genic downstream transcript variant, synonymous variant, coding sequence variant, genic upstream transcript variant, 5 prime UTR variant, non coding transcript variant |
|
rs145119475 |
C>A |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Coding sequence variant, genic downstream transcript variant, non coding transcript variant, missense variant |
|
rs145513717 |
C>A,G,T |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Genic downstream transcript variant, coding sequence variant, genic upstream transcript variant, missense variant, non coding transcript variant |
|
rs146017595 |
A>G |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Genic downstream transcript variant, coding sequence variant, genic upstream transcript variant, missense variant, non coding transcript variant |
|
rs146145357 |
T>C |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Genic downstream transcript variant, coding sequence variant, genic upstream transcript variant, missense variant, non coding transcript variant |
|
rs146382972 |
G>A |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Genic downstream transcript variant, coding sequence variant, genic upstream transcript variant, intron variant, 5 prime UTR variant, missense variant, non coding transcript variant |
|
rs146531614 |
A>G |
Conflicting-interpretations-of-pathogenicity, uncertain-significance, benign-likely-benign |
Genic downstream transcript variant, coding sequence variant, genic upstream transcript variant, missense variant, non coding transcript variant |
|
rs147515380 |
C>A,T |
Likely-pathogenic, uncertain-significance |
Genic upstream transcript variant, missense variant, genic downstream transcript variant, synonymous variant, coding sequence variant, non coding transcript variant |
|
rs147557621 |
G>A,T |
Uncertain-significance, pathogenic |
Stop gained, missense variant, genic upstream transcript variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant |
|
rs147934285 |
A>G |
Benign-likely-benign, conflicting-interpretations-of-pathogenicity |
Missense variant, genic upstream transcript variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant |
|
rs148191382 |
G>A,C |
Conflicting-interpretations-of-pathogenicity |
Missense variant, genic upstream transcript variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant |
|
rs148590073 |
A>G |
Benign-likely-benign, likely-benign, conflicting-interpretations-of-pathogenicity |
5 prime UTR variant, genic upstream transcript variant, missense variant, genic downstream transcript variant, intron variant, coding sequence variant, non coding transcript variant |
|
rs148993589 |
A>C |
Conflicting-interpretations-of-pathogenicity |
Non coding transcript variant, genic downstream transcript variant, missense variant, coding sequence variant |
|
rs149182949 |
A>G |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Genic upstream transcript variant, genic downstream transcript variant, synonymous variant, coding sequence variant, non coding transcript variant |
|
rs149636614 |
A>G |
Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity |
Genic upstream transcript variant, missense variant, genic downstream transcript variant, intron variant, coding sequence variant, non coding transcript variant |
|
rs149711770 |
G>A |
Benign-likely-benign, uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity |
Missense variant, genic upstream transcript variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant |
|
rs189445371 |
C>G,T |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Genic downstream transcript variant, non coding transcript variant, missense variant, coding sequence variant, genic upstream transcript variant |
|
rs192810283 |
G>A,T |
Likely-pathogenic |
Splice donor variant, genic upstream transcript variant, genic downstream transcript variant |
|
rs199543313 |
G>A,T |
Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign, benign |
Intron variant, genic upstream transcript variant, genic downstream transcript variant |
|
rs199875915 |
G>A,C,T |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Genic downstream transcript variant, non coding transcript variant, missense variant, coding sequence variant, genic upstream transcript variant |
|
rs199954262 |
C>T |
Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity |
Genic downstream transcript variant, non coding transcript variant, missense variant, coding sequence variant, genic upstream transcript variant |
|
rs200196781 |
G>A,T |
Pathogenic, likely-pathogenic, pathogenic-likely-pathogenic |
Splice donor variant, genic upstream transcript variant, genic downstream transcript variant |
|
rs200381392 |
G>A,T |
Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity |
Genic downstream transcript variant, non coding transcript variant, missense variant, coding sequence variant, genic upstream transcript variant |
|
rs200976093 |
C>T |
Pathogenic |
Genic downstream transcript variant, non coding transcript variant, stop gained, coding sequence variant, genic upstream transcript variant |
|
rs201089102 |
G>C,T |
Pathogenic, likely-pathogenic |
Splice donor variant, genic upstream transcript variant, genic downstream transcript variant |
|
rs201222237 |
G>A |
Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign, benign |
Intron variant, genic upstream transcript variant, genic downstream transcript variant |
|
rs201666889 |
T>C |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Non coding transcript variant, coding sequence variant, missense variant, genic downstream transcript variant |
|
rs201686625 |
T>C,G |
Benign-likely-benign, conflicting-interpretations-of-pathogenicity |
Intron variant, genic upstream transcript variant, genic downstream transcript variant |
|
rs201762714 |
A>G,T |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Genic downstream transcript variant, non coding transcript variant, missense variant, coding sequence variant, genic upstream transcript variant |
|
rs202028401 |
T>A,C,G |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Non coding transcript variant, coding sequence variant, missense variant, genic downstream transcript variant |
|
rs202160435 |
G>A |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Genic downstream transcript variant, 5 prime UTR variant, non coding transcript variant, missense variant, coding sequence variant, genic upstream transcript variant |
|
rs202173660 |
A>C |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Genic downstream transcript variant, non coding transcript variant, missense variant, coding sequence variant, genic upstream transcript variant |
|
rs368111672 |
A>G |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Genic downstream transcript variant, non coding transcript variant, missense variant, coding sequence variant, genic upstream transcript variant |
|
rs368606937 |
T>C,G |
Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity |
Genic downstream transcript variant, intron variant |
|
rs368830730 |
A>G |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Missense variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant |
|
rs369903995 |
G>A |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Missense variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant |
|
rs370269552 |
G>C |
Benign-likely-benign, conflicting-interpretations-of-pathogenicity |
Missense variant, genic downstream transcript variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant |
|
rs370354306 |
A>C,G,T |
Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity |
Genic downstream transcript variant, intron variant |
|
rs371640963 |
C>A,T |
Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity |
Synonymous variant, genic downstream transcript variant, coding sequence variant, intron variant |
|
rs372569168 |
A>G |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Genic downstream transcript variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant, synonymous variant |
|
rs372966951 |
G>A,T |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Missense variant, genic downstream transcript variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant |
|
rs373226793 |
T>C,G |
Pathogenic, likely-pathogenic |
Missense variant, stop gained, genic downstream transcript variant, non coding transcript variant, coding sequence variant |
|
rs374353016 |
A>G |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Missense variant, genic downstream transcript variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant |
|
rs374431061 |
C>G,T |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Synonymous variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant |
|
rs376116157 |
T>C |
Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity |
Genic downstream transcript variant, genic upstream transcript variant, intron variant |
|
rs376170600 |
C>A,G,T |
Likely-benign, pathogenic, likely-pathogenic |
Stop gained, genic downstream transcript variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant, synonymous variant, intron variant |
|
rs376603775 |
C>A,T |
Likely-benign, pathogenic |
Stop gained, genic downstream transcript variant, non coding transcript variant, coding sequence variant, synonymous variant |
|
rs377597949 |
G>A,T |
Uncertain-significance, pathogenic, conflicting-interpretations-of-pathogenicity |
Missense variant, stop gained, genic downstream transcript variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant |
|
rs527471560 |
T>A |
Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity |
Missense variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant |
|
rs528165789 |
C>A,T |
Uncertain-significance, pathogenic, likely-pathogenic, conflicting-interpretations-of-pathogenicity |
Missense variant, stop gained, genic downstream transcript variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant |
|
rs545892367 |
T>A,C |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Genic downstream transcript variant, intron variant, genic upstream transcript variant |
|
rs557012154 |
C>T |
Pathogenic-likely-pathogenic, pathogenic |
Genic downstream transcript variant, stop gained, coding sequence variant, non coding transcript variant, 5 prime UTR variant, genic upstream transcript variant |
|
rs569983068 |
T>G |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Intron variant, genic downstream transcript variant |
|
rs572564322 |
A>G |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Genic downstream transcript variant, genic upstream transcript variant, coding sequence variant, missense variant, non coding transcript variant |
|
rs587776549 |
ATC>TGAT |
Pathogenic |
Genic downstream transcript variant, genic upstream transcript variant, frameshift variant, coding sequence variant, non coding transcript variant |
|
rs587776551 |
G>A,T |
Pathogenic, likely-pathogenic |
Genic downstream transcript variant, genic upstream transcript variant, coding sequence variant, missense variant, synonymous variant, non coding transcript variant |
|
rs587776552 |
AAGT>- |
Likely-pathogenic |
Intron variant, genic downstream transcript variant, genic upstream transcript variant |
|
rs587778077 |
->A |
Pathogenic, not-provided |
Coding sequence variant, genic downstream transcript variant, non coding transcript variant, frameshift variant |
|
rs587779813 |
G>A |
Pathogenic |
Genic downstream transcript variant, intron variant, genic upstream transcript variant, coding sequence variant, non coding transcript variant, stop gained |
|
rs587779815 |
C>T |
Pathogenic, pathogenic-likely-pathogenic |
Genic downstream transcript variant, genic upstream transcript variant, coding sequence variant, non coding transcript variant, stop gained |
|
rs587779817 |
GA>- |
Pathogenic |
Genic downstream transcript variant, genic upstream transcript variant, frameshift variant, coding sequence variant, non coding transcript variant |
|
rs587779818 |
G>A |
Pathogenic |
Genic upstream transcript variant, 5 prime UTR variant, coding sequence variant, non coding transcript variant, stop gained |
|
rs587779822 |
->A |
Pathogenic |
Genic downstream transcript variant, genic upstream transcript variant, frameshift variant, coding sequence variant, non coding transcript variant |
|
rs587779826 |
T>C |
Pathogenic, likely-pathogenic, pathogenic-likely-pathogenic |
Genic downstream transcript variant, splice donor variant, genic upstream transcript variant |
|
rs587779829 |
A>G |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Genic downstream transcript variant, genic upstream transcript variant, coding sequence variant, synonymous variant, non coding transcript variant |
|
rs587779833 |
C>G |
Pathogenic, pathogenic-likely-pathogenic |
Genic downstream transcript variant, genic upstream transcript variant, coding sequence variant, non coding transcript variant, stop gained |
|
rs587779834 |
G>- |
Pathogenic |
Genic downstream transcript variant, genic upstream transcript variant, coding sequence variant, non coding transcript variant, stop gained |
|
rs587779836 |
G>A |
Pathogenic |
Genic downstream transcript variant, genic upstream transcript variant, coding sequence variant, non coding transcript variant, stop gained |
|
rs587779844 |
C>G,T |
Pathogenic-likely-pathogenic, conflicting-interpretations-of-pathogenicity, uncertain-significance |
Coding sequence variant, missense variant, genic downstream transcript variant, non coding transcript variant |
|
rs587779846 |
C>- |
Pathogenic, pathogenic-likely-pathogenic |
Coding sequence variant, genic downstream transcript variant, non coding transcript variant, frameshift variant |
|
rs587780612 |
GAAA>- |
Pathogenic, pathogenic-likely-pathogenic |
Genic downstream transcript variant, genic upstream transcript variant, 5 prime UTR variant, frameshift variant, coding sequence variant, non coding transcript variant |
|
rs587780624 |
TCTCA>- |
Pathogenic, pathogenic-likely-pathogenic |
Genic downstream transcript variant, intron variant, genic upstream transcript variant, 5 prime UTR variant, frameshift variant, coding sequence variant, non coding transcript variant |
|
rs587781347 |
AA>- |
Pathogenic, pathogenic-likely-pathogenic |
Genic downstream transcript variant, genic upstream transcript variant, frameshift variant, coding sequence variant, non coding transcript variant |
|
rs587781375 |
T>C,G |
Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance |
Intron variant, genic downstream transcript variant, genic upstream transcript variant |
|
rs587781449 |
T>- |
Pathogenic, pathogenic-likely-pathogenic |
Genic downstream transcript variant, intron variant, genic upstream transcript variant, 5 prime UTR variant, frameshift variant, coding sequence variant, non coding transcript variant |
|
rs587781511 |
A>G |
Likely-pathogenic, conflicting-interpretations-of-pathogenicity |
Genic downstream transcript variant, genic upstream transcript variant, 5 prime UTR variant, upstream transcript variant, coding sequence variant, missense variant, non coding transcript variant |
|
rs587781545 |
C>A,G,T |
Pathogenic, uncertain-significance |
Genic upstream transcript variant, 5 prime UTR variant, coding sequence variant, missense variant, non coding transcript variant, stop gained |
|
rs587781558 |
G>A,C,T |
Pathogenic, pathogenic-likely-pathogenic |
Genic downstream transcript variant, splice donor variant, genic upstream transcript variant |
|
rs587781598 |
TG>- |
Pathogenic, pathogenic-likely-pathogenic |
Genic downstream transcript variant, genic upstream transcript variant, inframe indel, 5 prime UTR variant, coding sequence variant, non coding transcript variant, stop gained |
|
rs587781653 |
G>- |
Pathogenic |
Coding sequence variant, genic downstream transcript variant, non coding transcript variant, frameshift variant |
|
rs587781656 |
AACCA>- |
Pathogenic |
Genic downstream transcript variant, genic upstream transcript variant, frameshift variant, coding sequence variant, non coding transcript variant |
|
rs587781658 |
CT>- |
Pathogenic, pathogenic-likely-pathogenic |
Genic downstream transcript variant, genic upstream transcript variant, frameshift variant, coding sequence variant, non coding transcript variant |
|
rs587781730 |
A>-,AA |
Pathogenic, likely-pathogenic, pathogenic-likely-pathogenic |
Coding sequence variant, genic downstream transcript variant, non coding transcript variant, frameshift variant |
|
rs587781752 |
A>- |
Pathogenic |
Genic downstream transcript variant, genic upstream transcript variant, frameshift variant, coding sequence variant, non coding transcript variant |
|
rs587781754 |
A>- |
Pathogenic |
Coding sequence variant, genic downstream transcript variant, non coding transcript variant, frameshift variant |
|
rs587781776 |
C>- |
Pathogenic, pathogenic-likely-pathogenic |
Genic downstream transcript variant, genic upstream transcript variant, frameshift variant, coding sequence variant, non coding transcript variant |
|
rs587781805 |
T>- |
Pathogenic |
Genic downstream transcript variant, genic upstream transcript variant, frameshift variant, coding sequence variant, non coding transcript variant |
|
rs587781812 |
A>C,G |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Genic downstream transcript variant, genic upstream transcript variant, coding sequence variant, missense variant, non coding transcript variant |
|
rs587781815 |
G>A |
Likely-pathogenic |
Genic downstream transcript variant, genic upstream transcript variant, coding sequence variant, missense variant, non coding transcript variant |
|
rs587781823 |
->T |
Pathogenic |
Genic downstream transcript variant, genic upstream transcript variant, frameshift variant, coding sequence variant, non coding transcript variant |
|
rs587781831 |
A>- |
Pathogenic, pathogenic-likely-pathogenic |
Genic downstream transcript variant, intron variant, genic upstream transcript variant, 5 prime UTR variant, frameshift variant, coding sequence variant, non coding transcript variant |
|
rs587781911 |
G>A,T |
Pathogenic, uncertain-significance |
Genic downstream transcript variant, genic upstream transcript variant, coding sequence variant, missense variant, non coding transcript variant, stop gained |
|
rs587781927 |
T>A,C |
Pathogenic, likely-pathogenic, pathogenic-likely-pathogenic |
Genic downstream transcript variant, splice donor variant |
|
rs587781950 |
A>T |
Pathogenic |
Coding sequence variant, genic downstream transcript variant, non coding transcript variant, stop gained |
|
rs587781956 |
GC>CT |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Genic downstream transcript variant, genic upstream transcript variant, coding sequence variant, missense variant, non coding transcript variant |
|
rs587781971 |
TCAG>- |
Pathogenic, pathogenic-likely-pathogenic |
Genic downstream transcript variant, genic upstream transcript variant, frameshift variant, coding sequence variant, non coding transcript variant |
|
rs587781978 |
T>- |
Pathogenic |
Genic downstream transcript variant, genic upstream transcript variant, 5 prime UTR variant, frameshift variant, coding sequence variant, non coding transcript variant |
|
rs587781984 |
->T |
Pathogenic |
Genic downstream transcript variant, genic upstream transcript variant, 5 prime UTR variant, frameshift variant, coding sequence variant, non coding transcript variant |
|
rs587781992 |
A>C,G |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Genic downstream transcript variant, genic upstream transcript variant, coding sequence variant, missense variant, non coding transcript variant |
|
rs587782054 |
C>- |
Pathogenic |
Coding sequence variant, genic downstream transcript variant, non coding transcript variant, frameshift variant |
|
rs587782085 |
G>- |
Pathogenic |
Genic downstream transcript variant, intron variant, genic upstream transcript variant, frameshift variant, coding sequence variant, non coding transcript variant |
|
rs587782103 |
G>A |
Pathogenic |
Genic downstream transcript variant, genic upstream transcript variant, coding sequence variant, non coding transcript variant, stop gained |
|
rs587782121 |
C>A,T |
Pathogenic, uncertain-significance |
Genic downstream transcript variant, genic upstream transcript variant, coding sequence variant, missense variant, non coding transcript variant, stop gained |
|
rs587782124 |
T>G |
Pathogenic, pathogenic-likely-pathogenic |
Genic downstream transcript variant, splice donor variant, genic upstream transcript variant |
|
rs587782192 |
T>G |
Pathogenic |
Genic downstream transcript variant, genic upstream transcript variant, coding sequence variant, non coding transcript variant, stop gained |
|
rs587782239 |
G>A,T |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Coding sequence variant, missense variant, genic downstream transcript variant, non coding transcript variant |
|
rs587782276 |
A>C,G |
Likely-pathogenic, pathogenic-likely-pathogenic |
Genic downstream transcript variant, splice acceptor variant |
|
rs587782280 |
G>T |
Pathogenic |
Genic downstream transcript variant, genic upstream transcript variant, coding sequence variant, non coding transcript variant, stop gained |
|
rs587782397 |
A>C |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Genic downstream transcript variant, genic upstream transcript variant, coding sequence variant, missense variant, non coding transcript variant |
|
rs587782572 |
TA>- |
Pathogenic |
Intron variant, genic downstream transcript variant, genic upstream transcript variant, splice acceptor variant |
|
rs587782660 |
CCTC>- |
Pathogenic |
Genic downstream transcript variant, genic upstream transcript variant, 5 prime UTR variant, frameshift variant, coding sequence variant, non coding transcript variant |
|
rs587782812 |
G>- |
Pathogenic |
Genic downstream transcript variant, frameshift variant, coding sequence variant, non coding transcript variant, 3 prime UTR variant |
|
rs587782844 |
A>- |
Pathogenic |
Genic downstream transcript variant, genic upstream transcript variant, frameshift variant, coding sequence variant, non coding transcript variant |
|
rs587782861 |
TT>-,T |
Pathogenic |
Genic downstream transcript variant, genic upstream transcript variant, frameshift variant, coding sequence variant, non coding transcript variant |
|
rs587782863 |
AAAAA>- |
Pathogenic |
Coding sequence variant, genic downstream transcript variant, non coding transcript variant, frameshift variant |
|
rs730881285 |
A>C,G |
Conflicting-interpretations-of-pathogenicity, likely-benign, benign |
Genic downstream transcript variant, genic upstream transcript variant, coding sequence variant, synonymous variant, non coding transcript variant |
|
rs730881296 |
A>- |
Pathogenic |
Genic downstream transcript variant, intron variant, genic upstream transcript variant, 5 prime UTR variant, frameshift variant, coding sequence variant, non coding transcript variant |
|
rs730881297 |
TA>- |
Pathogenic |
Genic downstream transcript variant, genic upstream transcript variant, 5 prime UTR variant, frameshift variant, coding sequence variant, non coding transcript variant |
|
rs730881299 |
->T |
Pathogenic |
Genic downstream transcript variant, genic upstream transcript variant, frameshift variant, coding sequence variant, non coding transcript variant |
|
rs730881300 |
C>- |
Pathogenic, pathogenic-likely-pathogenic |
Genic downstream transcript variant, genic upstream transcript variant, frameshift variant, coding sequence variant, non coding transcript variant |
|
rs730881301 |
TTC>GCCAA |
Pathogenic |
Genic downstream transcript variant, genic upstream transcript variant, frameshift variant, coding sequence variant, non coding transcript variant |
|
rs730881302 |
C>- |
Pathogenic |
Genic downstream transcript variant, genic upstream transcript variant, frameshift variant, coding sequence variant, non coding transcript variant |
|
rs730881303 |
A>- |
Pathogenic, pathogenic-likely-pathogenic |
Genic upstream transcript variant, 5 prime UTR variant, frameshift variant, coding sequence variant, non coding transcript variant |
|
rs730881304 |
->T |
Pathogenic |
Coding sequence variant, genic downstream transcript variant, non coding transcript variant, frameshift variant |
|
rs730881305 |
->AT |
Pathogenic |
Coding sequence variant, genic downstream transcript variant, non coding transcript variant, frameshift variant |
|
rs730881309 |
->T |
Pathogenic |
Coding sequence variant, genic downstream transcript variant, non coding transcript variant, frameshift variant |
|
rs730881310 |
TCTA>- |
Pathogenic, pathogenic-likely-pathogenic |
Intron variant, genic downstream transcript variant, splice acceptor variant |
|
rs730881333 |
C>A,T |
Pathogenic, uncertain-significance |
Genic downstream transcript variant, genic upstream transcript variant, 5 prime UTR variant, coding sequence variant, missense variant, non coding transcript variant, stop gained |
|
rs730881336 |
C>T |
Pathogenic, pathogenic-likely-pathogenic |
Genic downstream transcript variant, genic upstream transcript variant, 5 prime UTR variant, coding sequence variant, non coding transcript variant, stop gained |
|
rs730881346 |
T>G |
Likely-pathogenic, pathogenic-likely-pathogenic |
Intron variant, genic downstream transcript variant, genic upstream transcript variant |
|
rs730881347 |
G>A,C,T |
Pathogenic, likely-pathogenic |
Genic downstream transcript variant, splice donor variant, genic upstream transcript variant |
|
rs730881348 |
C>A,T |
Pathogenic, uncertain-significance |
Genic downstream transcript variant, genic upstream transcript variant, coding sequence variant, missense variant, non coding transcript variant, stop gained |
|
rs730881350 |
T>G |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Genic downstream transcript variant, genic upstream transcript variant, coding sequence variant, synonymous variant, non coding transcript variant |
|
rs730881353 |
A>G,T |
Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance |
Genic downstream transcript variant, genic upstream transcript variant, coding sequence variant, missense variant, non coding transcript variant |
|
rs730881357 |
A>G |
Pathogenic |
Genic downstream transcript variant, genic upstream transcript variant, splice acceptor variant |
|
rs730881359 |
A>C,G |
Pathogenic, likely-pathogenic, pathogenic-likely-pathogenic |
Genic upstream transcript variant, 5 prime UTR variant, missense variant, non coding transcript variant, initiator codon variant |
|
rs730881362 |
G>A,T |
Pathogenic, uncertain-significance |
Genic upstream transcript variant, 5 prime UTR variant, coding sequence variant, missense variant, non coding transcript variant, stop gained |
|
rs730881364 |
G>A,C |
Pathogenic, likely-pathogenic |
Genic downstream transcript variant, genic upstream transcript variant, splice acceptor variant |
|
rs730881367 |
C>A,G,T |
Pathogenic, likely-benign, uncertain-significance |
Intron variant, genic downstream transcript variant |
|
rs730881369 |
C>G,T |
Pathogenic, uncertain-significance |
Genic downstream transcript variant, coding sequence variant, missense variant, non coding transcript variant, stop gained |
|
rs730881388 |
C>T |
Pathogenic |
Genic downstream transcript variant, genic upstream transcript variant, coding sequence variant, non coding transcript variant, stop gained |
|
rs730881389 |
T>C |
Likely-pathogenic |
Genic downstream transcript variant, genic upstream transcript variant, coding sequence variant, missense variant, non coding transcript variant |
|
rs730881391 |
T>C |
Likely-pathogenic, conflicting-interpretations-of-pathogenicity |
Coding sequence variant, missense variant, genic downstream transcript variant, non coding transcript variant |
|
rs745642834 |
A>-,AA |
Pathogenic, likely-pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant, intron variant, 5 prime UTR variant, genic downstream transcript variant, genic upstream transcript variant |
|
rs746235533 |
C>G,T |
Pathogenic, uncertain-significance |
Coding sequence variant, non coding transcript variant, 5 prime UTR variant, missense variant, stop gained, genic upstream transcript variant |
|
rs746499337 |
C>T |
Likely-pathogenic |
Stop gained, genic downstream transcript variant, coding sequence variant, non coding transcript variant |
|
rs747563556 |
C>A,T |
Pathogenic, uncertain-significance |
Coding sequence variant, non coding transcript variant, intron variant, genic downstream transcript variant, missense variant, stop gained, genic upstream transcript variant |
|
rs747727055 |
C>G,T |
Uncertain-significance, likely-pathogenic |
Coding sequence variant, non coding transcript variant, 5 prime UTR variant, genic downstream transcript variant, missense variant, genic upstream transcript variant |
|
rs747750958 |
->T |
Conflicting-interpretations-of-pathogenicity |
Intron variant, genic downstream transcript variant |
|
rs747855862 |
G>A |
Likely-pathogenic |
Intron variant, splice acceptor variant, genic downstream transcript variant, genic upstream transcript variant |
|
rs748840480 |
G>A,C,T |
Pathogenic, likely-pathogenic |
Splice donor variant, genic downstream transcript variant, genic upstream transcript variant |
|
rs748949478 |
T>C |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Synonymous variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant |
|
rs749036865 |
C>A,G,T |
Pathogenic, uncertain-significance, likely-benign |
Coding sequence variant, non coding transcript variant, synonymous variant, genic downstream transcript variant, missense variant, stop gained, genic upstream transcript variant |
|
rs750663117 |
G>A |
Pathogenic-likely-pathogenic, pathogenic |
Splice acceptor variant, genic downstream transcript variant, genic upstream transcript variant |
|
rs752135143 |
G>A |
Pathogenic, likely-pathogenic |
Intron variant, synonymous variant, genic upstream transcript variant, coding sequence variant |
|
rs753011366 |
->CT |
Pathogenic |
Intron variant, frameshift variant, genic downstream transcript variant, coding sequence variant |
|
rs753839301 |
C>A,T |
Pathogenic, likely-benign |
Coding sequence variant, non coding transcript variant, synonymous variant, genic downstream transcript variant, stop gained |
|
rs754275014 |
A>G |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Coding sequence variant, non coding transcript variant, 5 prime UTR variant, genic downstream transcript variant, missense variant, genic upstream transcript variant |
|
rs754562056 |
C>A,T |
Uncertain-significance, likely-pathogenic |
Coding sequence variant, non coding transcript variant, genic downstream transcript variant, missense variant, stop gained |
|
rs756160533 |
C>A,T |
Pathogenic, uncertain-significance, likely-benign |
Genic downstream transcript variant, genic upstream transcript variant, stop gained, synonymous variant, intron variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant |
|
rs756197350 |
G>A |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant |
|
rs756987454 |
G>A,T |
Pathogenic |
Splice donor variant, genic downstream transcript variant, intron variant |
|
rs757237504 |
->CTAG |
Pathogenic |
Genic downstream transcript variant, genic upstream transcript variant, frameshift variant, non coding transcript variant, coding sequence variant |
|
rs757782702 |
C>T |
Pathogenic |
Genic downstream transcript variant, genic upstream transcript variant, stop gained, non coding transcript variant, coding sequence variant, 5 prime UTR variant |
|
rs758004668 |
G>- |
Pathogenic |
Genic downstream transcript variant, genic upstream transcript variant, frameshift variant, non coding transcript variant, coding sequence variant |
|
rs758081262 |
C>T |
Pathogenic |
Genic downstream transcript variant, genic upstream transcript variant, stop gained, non coding transcript variant, coding sequence variant |
|
rs758325274 |
G>A,C,T |
Pathogenic |
Splice donor variant, genic downstream transcript variant, genic upstream transcript variant |
|
rs758852420 |
CTCGC>A,C |
Pathogenic, uncertain-significance |
Coding sequence variant, genic downstream transcript variant, frameshift variant, non coding transcript variant |
|
rs759373136 |
G>A |
Likely-pathogenic, conflicting-interpretations-of-pathogenicity |
Genic downstream transcript variant, intron variant |
|
rs759520465 |
G>A,C |
Pathogenic, likely-pathogenic |
Splice acceptor variant, genic downstream transcript variant |
|
rs760704159 |
C>G |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Genic downstream transcript variant, intron variant |
|
rs761486324 |
->G,TG |
Pathogenic |
Genic downstream transcript variant, genic upstream transcript variant, frameshift variant, non coding transcript variant, coding sequence variant |
|
rs761936549 |
T>A,C |
Pathogenic |
Missense variant, genic upstream transcript variant, stop gained, non coding transcript variant, coding sequence variant, 5 prime UTR variant |
|
rs762083530 |
C>G,T |
Pathogenic, uncertain-significance |
Missense variant, genic downstream transcript variant, stop gained, intron variant, coding sequence variant |
|
rs762089971 |
GA>- |
Pathogenic |
Genic upstream transcript variant, frameshift variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant |
|
rs762838462 |
TAATAAAAATTT>- |
Pathogenic, likely-pathogenic |
Splice donor variant, genic downstream transcript variant, intron variant |
|
rs762998620 |
C>G,T |
Pathogenic, uncertain-significance |
Missense variant, genic downstream transcript variant, genic upstream transcript variant, stop gained, non coding transcript variant, coding sequence variant, 5 prime UTR variant |
|
rs763457172 |
A>G,T |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant |
|
rs764389018 |
C>A,G,T |
Pathogenic, pathogenic-likely-pathogenic, uncertain-significance, likely-benign |
Missense variant, genic downstream transcript variant, stop gained, synonymous variant, non coding transcript variant, coding sequence variant |
|
rs764409952 |
C>G,T |
Pathogenic |
Missense variant, genic downstream transcript variant, genic upstream transcript variant, stop gained, non coding transcript variant, coding sequence variant |
|
rs765619483 |
T>A,C |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Genic upstream transcript variant, genic downstream transcript variant, intron variant |
|
rs765759912 |
G>A,T |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant, genic downstream transcript variant, intron variant |
|
rs765965513 |
C>T |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Missense variant, genic downstream transcript variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant |
|
rs767111803 |
C>T |
Conflicting-interpretations-of-pathogenicity |
Intron variant, genic downstream transcript variant |
|
rs768362387 |
C>A,G |
Pathogenic-likely-pathogenic, pathogenic |
Genic upstream transcript variant, non coding transcript variant, stop gained, coding sequence variant, genic downstream transcript variant |
|
rs768850329 |
C>T |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Intron variant, genic upstream transcript variant, genic downstream transcript variant |
|
rs769106895 |
G>A |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Genic upstream transcript variant, non coding transcript variant, missense variant, coding sequence variant, genic downstream transcript variant |
|
rs770396940 |
->A |
Pathogenic |
Frameshift variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant, genic downstream transcript variant |
|
rs770610463 |
T>C,G |
Pathogenic |
Genic upstream transcript variant, non coding transcript variant, stop gained, missense variant, coding sequence variant, genic downstream transcript variant |
|
rs771117943 |
G>T |
Likely-pathogenic, pathogenic-likely-pathogenic |
Splice donor variant, genic downstream transcript variant |
|
rs771342315 |
T>A |
Pathogenic |
Intron variant, genic upstream transcript variant, non coding transcript variant, stop gained, coding sequence variant, 5 prime UTR variant, genic downstream transcript variant |
|
rs771887195 |
C>- |
Pathogenic |
Genic upstream transcript variant, non coding transcript variant, stop gained, coding sequence variant, 5 prime UTR variant |
|
rs771936821 |
TTCT>- |
Pathogenic |
Intron variant, frameshift variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant, genic downstream transcript variant |
|
rs772555314 |
T>A,C |
Pathogenic |
Non coding transcript variant, stop gained, missense variant, coding sequence variant, genic downstream transcript variant |
|
rs772724024 |
G>C,T |
Uncertain-significance, pathogenic |
Genic upstream transcript variant, non coding transcript variant, stop gained, missense variant, coding sequence variant, genic downstream transcript variant |
|
rs772821016 |
C>T |
Pathogenic |
Genic upstream transcript variant, non coding transcript variant, stop gained, coding sequence variant, 5 prime UTR variant, genic downstream transcript variant |
|
rs772926890 |
G>T |
Pathogenic, pathogenic-likely-pathogenic |
Genic upstream transcript variant, splice donor variant, genic downstream transcript variant |
|
rs773012957 |
TAGGTATT>- |
Likely-pathogenic |
Intron variant, splice acceptor variant, non coding transcript variant, coding sequence variant, genic downstream transcript variant |
|
rs774185390 |
C>G,T |
Pathogenic |
Genic upstream transcript variant, non coding transcript variant, stop gained, missense variant, coding sequence variant, 5 prime UTR variant |
|
rs774197372 |
C>A,T |
Uncertain-significance, pathogenic |
Genic upstream transcript variant, non coding transcript variant, stop gained, missense variant, coding sequence variant, genic downstream transcript variant |
|
rs775036118 |
C>T |
Pathogenic |
Stop gained, coding sequence variant, non coding transcript variant, genic downstream transcript variant |
|
rs775248597 |
C>G,T |
Likely-pathogenic, uncertain-significance, pathogenic |
Genic upstream transcript variant, coding sequence variant, non coding transcript variant, stop gained, missense variant, 5 prime UTR variant |
|
rs775274473 |
C>G,T |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Intron variant, genic upstream transcript variant, genic downstream transcript variant |
|
rs775561876 |
AT>- |
Pathogenic |
Frameshift variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant |
|
rs775644968 |
T>C |
Uncertain-significance, likely-pathogenic |
Genic upstream transcript variant, non coding transcript variant, missense variant, coding sequence variant, genic downstream transcript variant |
|
rs776516754 |
A>- |
Pathogenic |
Genic downstream transcript variant, genic upstream transcript variant, frameshift variant, non coding transcript variant, coding sequence variant |
|
rs777849257 |
C>T |
Pathogenic-likely-pathogenic, pathogenic |
Stop gained, genic downstream transcript variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant |
|
rs778624615 |
G>A,C,T |
Uncertain-significance, likely-pathogenic |
Intron variant, genic downstream transcript variant, splice acceptor variant, genic upstream transcript variant |
|
rs780240314 |
T>C,G |
Likely-benign, likely-pathogenic |
Synonymous variant, stop gained, genic downstream transcript variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant |
|
rs780619951 |
C>G,T |
Pathogenic, uncertain-significance |
Missense variant, stop gained, genic downstream transcript variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant |
|
rs780932013 |
A>G |
Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance |
Synonymous variant, genic downstream transcript variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant |
|
rs781404312 |
G>A |
Pathogenic-likely-pathogenic, pathogenic |
Missense variant, genic upstream transcript variant, non coding transcript variant, initiator codon variant, 5 prime UTR variant |
|
rs781730571 |
T>C,G |
Likely-pathogenic |
Genic upstream transcript variant, genic downstream transcript variant, intron variant |
|
rs786201675 |
TTATT>- |
Pathogenic-likely-pathogenic, pathogenic |
Genic downstream transcript variant, genic upstream transcript variant, frameshift variant, non coding transcript variant, coding sequence variant |
|
rs786201689 |
G>A |
Pathogenic |
Stop gained, genic downstream transcript variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant |
|
rs786201693 |
C>G,T |
Pathogenic-likely-pathogenic, pathogenic, likely-pathogenic |
Synonymous variant, stop gained, genic downstream transcript variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant, intron variant |
|
rs786201886 |
TAT>CA |
Pathogenic |
Genic downstream transcript variant, genic upstream transcript variant, frameshift variant, non coding transcript variant, coding sequence variant |
|
rs786201957 |
C>T |
Pathogenic |
Stop gained, genic downstream transcript variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant |
|
rs786202148 |
TAGT>GATACTA |
Pathogenic-likely-pathogenic, likely-pathogenic |
Splice acceptor variant, genic downstream transcript variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant, intron variant |
|
rs786202195 |
T>A,C,G |
Pathogenic, likely-pathogenic |
Stop gained, missense variant, genic downstream transcript variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant |
|
rs786202350 |
T>- |
Pathogenic |
Frameshift variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant |
|
rs786202474 |
->T |
Pathogenic |
Genic downstream transcript variant, genic upstream transcript variant, frameshift variant, non coding transcript variant, coding sequence variant |
|
rs786202608 |
T>- |
Pathogenic |
Genic downstream transcript variant, genic upstream transcript variant, frameshift variant, non coding transcript variant, coding sequence variant |
|
rs786202694 |
->G |
Pathogenic |
Genic downstream transcript variant, genic upstream transcript variant, frameshift variant, non coding transcript variant, coding sequence variant |
|
rs786202695 |
GTGT>- |
Pathogenic |
Stop gained, genic downstream transcript variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant |
|
rs786202743 |
C>T |
Pathogenic-likely-pathogenic, pathogenic |
Stop gained, genic downstream transcript variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant |
|
rs786202783 |
G>- |
Pathogenic |
Splice donor variant, genic downstream transcript variant, genic upstream transcript variant |
|
rs786203054 |
T>A,G |
Uncertain-significance, likely-pathogenic |
Missense variant, genic downstream transcript variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant |
|
rs786203166 |
A>- |
Pathogenic, likely-pathogenic |
Genic downstream transcript variant, genic upstream transcript variant, frameshift variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant |
|
rs786203309 |
T>G |
Pathogenic-likely-pathogenic, pathogenic |
Stop gained, genic downstream transcript variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant |
|
rs786203370 |
TTCA>- |
Pathogenic |
Genic upstream transcript variant, frameshift variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant |
|
rs786203501 |
G>- |
Pathogenic |
Genic downstream transcript variant, genic upstream transcript variant, frameshift variant, non coding transcript variant, coding sequence variant |
|
rs786203507 |
G>- |
Pathogenic |
Genic downstream transcript variant, genic upstream transcript variant, frameshift variant, non coding transcript variant, coding sequence variant |
|
rs786203539 |
A>- |
Pathogenic |
Genic downstream transcript variant, genic upstream transcript variant, frameshift variant, non coding transcript variant, coding sequence variant |
|
rs786203550 |
C>G |
Pathogenic |
Stop gained, genic downstream transcript variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant |
|
rs786203606 |
T>C |
Pathogenic-likely-pathogenic, pathogenic |
Missense variant, genic upstream transcript variant, non coding transcript variant, initiator codon variant, 5 prime UTR variant |
|
rs786203796 |
A>C,G,T |
Pathogenic-likely-pathogenic, pathogenic, likely-pathogenic |
Genic downstream transcript variant, splice acceptor variant |
|
rs786203807 |
C>- |
Pathogenic |
Genic downstream transcript variant, genic upstream transcript variant, frameshift variant, non coding transcript variant, coding sequence variant |
|
rs786203888 |
C>T |
Pathogenic |
Stop gained, genic upstream transcript variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant |
|
rs786204088 |
G>A,T |
Likely-pathogenic |
Splice donor variant, genic upstream transcript variant |
|
rs786204433 |
C>T |
Pathogenic-likely-pathogenic, pathogenic |
Stop gained, non coding transcript variant, genic downstream transcript variant, coding sequence variant |
|
rs786204543 |
T>-,TT |
Pathogenic-likely-pathogenic, pathogenic |
Genic downstream transcript variant, genic upstream transcript variant, frameshift variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant |
|
rs786204737 |
T>- |
Pathogenic-likely-pathogenic, pathogenic, likely-pathogenic |
Genic downstream transcript variant, genic upstream transcript variant, frameshift variant, non coding transcript variant, coding sequence variant |
|
rs786204751 |
C>T |
Pathogenic-likely-pathogenic, pathogenic |
Stop gained, non coding transcript variant, genic downstream transcript variant, coding sequence variant |
|
rs796051858 |
G>A |
Pathogenic, likely-pathogenic |
Genic upstream transcript variant, genic downstream transcript variant, intron variant |
|
rs797045114 |
G>- |
Pathogenic-likely-pathogenic, pathogenic |
Non coding transcript variant, genic downstream transcript variant, coding sequence variant, splice acceptor variant |
|
rs863224460 |
TAACTGTG>- |
Pathogenic |
Genic downstream transcript variant, genic upstream transcript variant, frameshift variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant |
|
rs863224822 |
T>- |
Pathogenic |
Genic downstream transcript variant, genic upstream transcript variant, frameshift variant, non coding transcript variant, coding sequence variant |
|
rs864622129 |
G>A,C |
Likely-pathogenic |
Splice donor variant, genic downstream transcript variant, genic upstream transcript variant |
|
rs864622163 |
T>A,C,G |
Pathogenic-likely-pathogenic, uncertain-significance |
Stop gained, missense variant, genic downstream transcript variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant |
|
rs864622164 |
->A |
Pathogenic |
Frameshift variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant |
|
rs864622290 |
GT>- |
Pathogenic |
Frameshift variant, genic downstream transcript variant, coding sequence variant, intron variant |
|
rs864622294 |
T>A,C,G |
Uncertain-significance, likely-pathogenic |
Missense variant, genic downstream transcript variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant |
|
rs864622389 |
T>- |
Pathogenic |
Stop gained, genic downstream transcript variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant |
|
rs864622415 |
->AGATAAAGAAGAACTT |
Pathogenic |
Stop gained, genic downstream transcript variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant, inframe indel |
|
rs864622479 |
G>T |
Pathogenic-likely-pathogenic, pathogenic |
Stop gained, non coding transcript variant, genic downstream transcript variant, coding sequence variant |
|
rs864622490 |
G>A |
Pathogenic |
Stop gained, genic downstream transcript variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant |
|
rs864622543 |
A>G |
Uncertain-significance, likely-pathogenic |
Genic downstream transcript variant, intron variant |
|
rs864622662 |
G>- |
Pathogenic |
Frameshift variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant |
|
rs865985297 |
C>T |
Pathogenic |
Stop gained, genic downstream transcript variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant |
|
rs866521873 |
C>A,T |
Conflicting-interpretations-of-pathogenicity, uncertain-significance, pathogenic |
Missense variant, stop gained, genic downstream transcript variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant |
|
rs869312754 |
G>T |
Likely-pathogenic |
Splice acceptor variant, genic upstream transcript variant |
|
rs869312755 |
C>T |
Pathogenic-likely-pathogenic |
Stop gained, non coding transcript variant, genic downstream transcript variant, coding sequence variant |
|
rs869312756 |
G>A,T |
Likely-pathogenic |
Splice donor variant, genic downstream transcript variant |
|
rs876658159 |
G>A,C |
Pathogenic, uncertain-significance |
Stop gained, missense variant, genic downstream transcript variant, genic upstream transcript variant, 5 prime UTR variant, non coding transcript variant, coding sequence variant, intron variant |
|
rs876658248 |
TG>- |
Pathogenic-likely-pathogenic, pathogenic |
Stop gained, genic downstream transcript variant, non coding transcript variant, coding sequence variant, inframe indel |
|
rs876658287 |
T>- |
Pathogenic, likely-pathogenic |
Frameshift variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant |
|
rs876658290 |
A>G,T |
Conflicting-interpretations-of-pathogenicity |
Genic downstream transcript variant, intron variant |
|
rs876658402 |
AGTTCGCA>- |
Pathogenic |
Genic downstream transcript variant, genic upstream transcript variant, frameshift variant, non coding transcript variant, coding sequence variant |
|
rs876658455 |
C>- |
Pathogenic |
Genic downstream transcript variant, genic upstream transcript variant, frameshift variant, non coding transcript variant, coding sequence variant |
|
rs876658500 |
G>A |
Likely-pathogenic |
Intron variant, splice donor variant, genic downstream transcript variant, genic upstream transcript variant |
|
rs876658502 |
->A |
Pathogenic |
Genic downstream transcript variant, genic upstream transcript variant, frameshift variant, non coding transcript variant, coding sequence variant |
|
rs876658548 |
TGAC>- |
Pathogenic |
Genic downstream transcript variant, genic upstream transcript variant, frameshift variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant |
|
rs876658572 |
A>- |
Pathogenic |
Genic downstream transcript variant, genic upstream transcript variant, frameshift variant, non coding transcript variant, coding sequence variant |
|
rs876658583 |
T>- |
Pathogenic-likely-pathogenic, pathogenic |
Genic downstream transcript variant, genic upstream transcript variant, frameshift variant, non coding transcript variant, coding sequence variant |
|
rs876658587 |
G>T |
Pathogenic |
Stop gained, non coding transcript variant, genic downstream transcript variant, coding sequence variant |
|
rs876658651 |
TATTAAAACT>- |
Pathogenic |
Genic downstream transcript variant, genic upstream transcript variant, frameshift variant, non coding transcript variant, coding sequence variant |
|
rs876658754 |
T>- |
Pathogenic |
Genic downstream transcript variant, genic upstream transcript variant, frameshift variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant |
|
rs876658804 |
G>A,T |
Pathogenic, uncertain-significance |
Missense variant, stop gained, genic downstream transcript variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant |
|
rs876658832 |
TA>- |
Pathogenic |
Upstream transcript variant, genic downstream transcript variant, genic upstream transcript variant, frameshift variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant |
|
rs876658836 |
C>G,T |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Synonymous variant, genic downstream transcript variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant |
|
rs876658899 |
->A |
Pathogenic |
Genic downstream transcript variant, genic upstream transcript variant, frameshift variant, non coding transcript variant, coding sequence variant |
|
rs876659003 |
TG>- |
Pathogenic-likely-pathogenic, pathogenic |
Stop gained, inframe indel, genic downstream transcript variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant |
|
rs876659039 |
T>- |
Pathogenic, likely-pathogenic |
Frameshift variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant |
|
rs876659067 |
C>T |
Pathogenic |
Stop gained, genic downstream transcript variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant |
|
rs876659078 |
A>C,T |
Uncertain-significance, likely-pathogenic |
Missense variant, stop gained, genic upstream transcript variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant |
|
rs876659116 |
TTAA>- |
Pathogenic, likely-pathogenic |
Genic upstream transcript variant, frameshift variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant |
|
rs876659149 |
C>G,T |
Likely-benign, likely-pathogenic |
Synonymous variant, stop gained, genic downstream transcript variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant |
|
rs876659283 |
G>C,T |
Pathogenic, uncertain-significance |
Missense variant, stop gained, genic downstream transcript variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant |
|
rs876659304 |
A>G |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Synonymous variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant |
|
rs876659430 |
T>C |
Likely-pathogenic |
Splice donor variant, genic downstream transcript variant, genic upstream transcript variant |
|
rs876659450 |
GG>- |
Pathogenic |
Stop gained, inframe indel, genic downstream transcript variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant, intron variant |
|
rs876659535 |
GATA>- |
Pathogenic |
Frameshift variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant |
|
rs876659672 |
->G |
Pathogenic-likely-pathogenic, pathogenic, likely-pathogenic |
Genic downstream transcript variant, genic upstream transcript variant, frameshift variant, non coding transcript variant, coding sequence variant |
|
rs876659710 |
G>C |
Pathogenic, likely-pathogenic |
Genic downstream transcript variant, splice acceptor variant, genic upstream transcript variant |
|
rs876659825 |
C>G,T |
Pathogenic, uncertain-significance |
Missense variant, stop gained, genic downstream transcript variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant |
|
rs876659866 |
GT>- |
Pathogenic |
Genic downstream transcript variant, genic upstream transcript variant, frameshift variant, non coding transcript variant, coding sequence variant |
|
rs876660031 |
->C |
Pathogenic |
Genic downstream transcript variant, genic upstream transcript variant, frameshift variant, non coding transcript variant, coding sequence variant |
|
rs876660038 |
G>A,T |
Likely-pathogenic |
Intron variant, genic downstream transcript variant, splice acceptor variant, genic upstream transcript variant |
|
rs876660106 |
G>A,T |
Pathogenic, uncertain-significance |
Missense variant, stop gained, genic downstream transcript variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant, intron variant |
|
rs876660175 |
G>A,T |
Likely-pathogenic |
Missense variant, splice donor variant, genic downstream transcript variant, coding sequence variant |
|
rs876660245 |
G>A,C |
Likely-pathogenic |
Genic downstream transcript variant, splice acceptor variant |
|
rs876660289 |
A>- |
Pathogenic |
Frameshift variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant |
|
rs876660315 |
C>- |
Pathogenic |
Genic downstream transcript variant, genic upstream transcript variant, frameshift variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant |
|
rs876660430 |
G>A,T |
Pathogenic, uncertain-significance |
Missense variant, stop gained, genic downstream transcript variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant |
|
rs876660485 |
C>G,T |
Pathogenic, uncertain-significance |
Missense variant, stop gained, genic downstream transcript variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant |
|
rs876660621 |
G>A,T |
Likely-pathogenic |
Splice donor variant, genic downstream transcript variant, genic upstream transcript variant |
|
rs876660631 |
C>A,T |
Pathogenic, uncertain-significance |
Missense variant, stop gained, genic upstream transcript variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant |
|
rs876660674 |
G>T |
Likely-pathogenic |
Splice donor variant, genic downstream transcript variant |
|
rs876660741 |
->T |
Pathogenic, likely-pathogenic |
Genic downstream transcript variant, genic upstream transcript variant, frameshift variant, non coding transcript variant, coding sequence variant |
|
rs876660780 |
C>G |
Pathogenic |
Stop gained, genic downstream transcript variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant |
|
rs876660783 |
TAGAA>G |
Pathogenic |
Genic downstream transcript variant, genic upstream transcript variant, frameshift variant, non coding transcript variant, coding sequence variant |
|
rs876660842 |
->T |
Pathogenic |
Stop gained, genic upstream transcript variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant |
|
rs876660865 |
A>- |
Pathogenic |
Genic downstream transcript variant, genic upstream transcript variant, frameshift variant, non coding transcript variant, coding sequence variant |
|
rs876660869 |
G>A,T |
Pathogenic, uncertain-significance |
Stop gained, missense variant, genic downstream transcript variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant |
|
rs876660933 |
G>T |
Pathogenic, likely-pathogenic |
Stop gained, genic downstream transcript variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant |
|
rs876660964 |
A>C,T |
Pathogenic, uncertain-significance |
Missense variant, stop gained, genic downstream transcript variant, non coding transcript variant, coding sequence variant |
|
rs878853490 |
A>- |
Pathogenic-likely-pathogenic, pathogenic |
Genic upstream transcript variant, frameshift variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant |
|
rs878853495 |
T>A,G |
Likely-pathogenic |
Splice donor variant, genic downstream transcript variant, genic upstream transcript variant |
|
rs878853497 |
A>- |
Pathogenic |
Genic upstream transcript variant, frameshift variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant |
|
rs878853518 |
->A |
Pathogenic |
Frameshift variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant |
|
rs878853522 |
G>- |
Pathogenic |
Downstream transcript variant, genic downstream transcript variant, frameshift variant, non coding transcript variant, coding sequence variant |
|
rs878853525 |
T>A |
Pathogenic |
Stop gained, non coding transcript variant, genic downstream transcript variant, coding sequence variant |
|
rs879254034 |
G>T |
Likely-pathogenic |
Splice donor variant, genic downstream transcript variant |
|
rs879254041 |
A>- |
Likely-pathogenic |
Stop gained, downstream transcript variant, genic downstream transcript variant, non coding transcript variant, coding sequence variant |
|
rs879254046 |
G>A,C,T |
Uncertain-significance, likely-pathogenic |
Missense variant, stop gained, genic downstream transcript variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant |
|
rs879254052 |
T>- |
Pathogenic, likely-pathogenic |
Genic upstream transcript variant, frameshift variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant |
|
rs879254069 |
G>A |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Synonymous variant, genic downstream transcript variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant |
|
rs879254070 |
C>- |
Likely-pathogenic |
Stop gained, genic downstream transcript variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant |
|
rs879254076 |
G>A |
Pathogenic-likely-pathogenic, pathogenic |
Stop gained, non coding transcript variant, genic downstream transcript variant, coding sequence variant |
|
rs879254083 |
G>C,T |
Uncertain-significance, likely-pathogenic |
Missense variant, stop gained, genic downstream transcript variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant |
|
rs879254093 |
G>A |
Pathogenic |
Stop gained, genic downstream transcript variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant |
|
rs879254103 |
A>G |
Conflicting-interpretations-of-pathogenicity |
Genic upstream transcript variant, genic downstream transcript variant, intron variant |
|
rs879254171 |
G>A |
Pathogenic, likely-pathogenic |
Stop gained, downstream transcript variant, genic downstream transcript variant, non coding transcript variant, coding sequence variant |
|
rs879254180 |
G>A,T |
Pathogenic, likely-pathogenic |
Splice donor variant, genic downstream transcript variant, downstream transcript variant |
|
rs879254189 |
TT>- |
Pathogenic, likely-pathogenic |
Frameshift variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant |
|
rs879254190 |
A>G,T |
Pathogenic, uncertain-significance, likely-pathogenic |
Missense variant, stop gained, genic downstream transcript variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant |
|
rs879254242 |
->A |
Likely-pathogenic |
Frameshift variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant |
|
rs879254281 |
CAAT>- |
Likely-pathogenic |
Genic downstream transcript variant, genic upstream transcript variant, frameshift variant, non coding transcript variant, coding sequence variant |
|
rs886038217 |
GA>CG |
Uncertain-significance, likely-pathogenic |
Missense variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant |
|
rs886039488 |
AG>- |
Pathogenic, likely-pathogenic |
Frameshift variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant |
|
rs886039515 |
TTTAGAT>- |
Pathogenic |
Frameshift variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant |
|
rs886039591 |
CT>- |
Likely-pathogenic |
Genic downstream transcript variant, genic upstream transcript variant, frameshift variant, non coding transcript variant, coding sequence variant |
|
rs886039592 |
C>A,T |
Pathogenic, uncertain-significance, likely-pathogenic |
Missense variant, stop gained, genic downstream transcript variant, coding sequence variant, intron variant |
|
rs886039605 |
A>- |
Likely-pathogenic |
Genic downstream transcript variant, genic upstream transcript variant, frameshift variant, non coding transcript variant, coding sequence variant |
|
rs886039621 |
A>- |
Likely-pathogenic |
Genic downstream transcript variant, genic upstream transcript variant, frameshift variant, non coding transcript variant, coding sequence variant |
|
rs886039627 |
C>G |
Likely-pathogenic |
Stop gained, non coding transcript variant, genic downstream transcript variant, coding sequence variant |
|
rs886039632 |
TG>A |
Likely-pathogenic |
Genic downstream transcript variant, genic upstream transcript variant, frameshift variant, non coding transcript variant, coding sequence variant |
|
rs886039633 |
C>A,T |
Likely-benign, pathogenic, likely-pathogenic |
Synonymous variant, stop gained, genic downstream transcript variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant |
|
rs886039637 |
T>A,C |
Likely-benign, pathogenic, likely-pathogenic |
Synonymous variant, stop gained, genic downstream transcript variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant |
|
rs886039640 |
G>- |
Likely-pathogenic |
Splice donor variant, genic downstream transcript variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant, intron variant |
|
rs886039644 |
T>A |
Likely-pathogenic |
Stop gained, genic downstream transcript variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant |
|
rs886039666 |
C>G,T |
Pathogenic, uncertain-significance, likely-pathogenic |
Missense variant, stop gained, genic downstream transcript variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant |
|
rs886039697 |
G>- |
Pathogenic |
Frameshift variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant |
|
rs886041340 |
->ACAG |
Pathogenic, likely-pathogenic |
Genic downstream transcript variant, genic upstream transcript variant, frameshift variant, non coding transcript variant, coding sequence variant, intron variant |
|
rs886041931 |
A>G |
Likely-pathogenic |
Genic downstream transcript variant, splice acceptor variant, genic upstream transcript variant |
|
rs886041938 |
A>- |
Likely-pathogenic |
Frameshift variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant |
|
rs887358871 |
A>G |
Likely-pathogenic |
Splice acceptor variant, genic upstream transcript variant, genic downstream transcript variant |
|
rs914092098 |
G>A |
Pathogenic |
Splice donor variant, genic downstream transcript variant, genic upstream transcript variant |
|
rs963653732 |
G>C |
Likely-pathogenic |
Genic downstream transcript variant, genic upstream transcript variant, intron variant |
|
rs1020808836 |
C>A,T |
Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity |
Non coding transcript variant, coding sequence variant, missense variant, genic downstream transcript variant, synonymous variant, genic upstream transcript variant |
|
rs1025339570 |
G>A,T |
Uncertain-significance, pathogenic |
Non coding transcript variant, coding sequence variant, stop gained, missense variant, genic downstream transcript variant, genic upstream transcript variant, intron variant |
|
rs1049900772 |
A>G,T |
Pathogenic |
Genic downstream transcript variant, genic upstream transcript variant, non coding transcript variant, missense variant, stop gained, coding sequence variant |
|
rs1057516238 |
G>T |
Likely-pathogenic |
Splice acceptor variant, genic downstream transcript variant |
|
rs1057516250 |
->A |
Likely-pathogenic |
Genic downstream transcript variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant, frameshift variant |
|
rs1057516301 |
->C |
Likely-pathogenic |
Genic downstream transcript variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant, frameshift variant |
|
rs1057516311 |
C>T |
Likely-pathogenic |
Non coding transcript variant, genic downstream transcript variant, stop gained, coding sequence variant |
|
rs1057516358 |
GA>AC |
Likely-pathogenic |
Genic downstream transcript variant, non coding transcript variant, stop gained, inframe indel, coding sequence variant |
|
rs1057516393 |
->T |
Pathogenic-likely-pathogenic |
Genic downstream transcript variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant, frameshift variant |
|
rs1057516442 |
A>G,T |
Uncertain-significance, likely-pathogenic |
Genic downstream transcript variant, genic upstream transcript variant, non coding transcript variant, missense variant, stop gained, 5 prime UTR variant, coding sequence variant |
|
rs1057516446 |
AACA>- |
Likely-pathogenic |
Genic downstream transcript variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant, frameshift variant |
|
rs1057516540 |
CTAGTTTT>- |
Likely-pathogenic |
Genic downstream transcript variant, 3 prime UTR variant, intron variant, splice acceptor variant, non coding transcript variant, coding sequence variant |
|
rs1057516541 |
->A |
Pathogenic, pathogenic-likely-pathogenic |
Genic downstream transcript variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant, frameshift variant |
|
rs1057516553 |
A>G |
Likely-pathogenic |
Genic upstream transcript variant, splice acceptor variant, genic downstream transcript variant |
|
rs1057516590 |
G>- |
Likely-pathogenic |
Genic downstream transcript variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant, frameshift variant |
|
rs1057516620 |
C>G |
Likely-pathogenic |
Genic downstream transcript variant, genic upstream transcript variant, non coding transcript variant, stop gained, coding sequence variant |
|
rs1057516683 |
A>- |
Likely-pathogenic |
Genic downstream transcript variant, genic upstream transcript variant, non coding transcript variant, 5 prime UTR variant, coding sequence variant, frameshift variant |
|
rs1057516721 |
TT>- |
Likely-pathogenic |
Genic downstream transcript variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant, frameshift variant |
|
rs1057516760 |
->A |
Pathogenic-likely-pathogenic |
Downstream transcript variant, genic downstream transcript variant, non coding transcript variant, coding sequence variant, frameshift variant |
|
rs1057516876 |
C>- |
Pathogenic-likely-pathogenic |
Genic downstream transcript variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant, frameshift variant |
|
rs1057516944 |
CA>- |
Pathogenic, likely-pathogenic |
Genic downstream transcript variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant, frameshift variant |
|
rs1057516980 |
->AA |
Pathogenic-likely-pathogenic |
Genic downstream transcript variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant, frameshift variant |
|
rs1057516981 |
A>T |
Pathogenic, pathogenic-likely-pathogenic |
Genic downstream transcript variant, genic upstream transcript variant, non coding transcript variant, stop gained, coding sequence variant |
|
rs1057517097 |
->T |
Likely-pathogenic |
Genic downstream transcript variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant, frameshift variant |
|
rs1057517100 |
A>- |
Likely-pathogenic |
Genic downstream transcript variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant, frameshift variant |
|
rs1057517101 |
A>- |
Likely-pathogenic |
Genic downstream transcript variant, 3 prime UTR variant, non coding transcript variant, coding sequence variant, frameshift variant |
|
rs1057517129 |
TT>-,T |
Pathogenic, likely-pathogenic |
Genic downstream transcript variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant, frameshift variant |
|
rs1057517140 |
TACCAGAGATT>- |
Pathogenic, pathogenic-likely-pathogenic |
Genic downstream transcript variant, non coding transcript variant, 5 prime UTR variant, coding sequence variant, frameshift variant |
|
rs1057517213 |
A>G |
Likely-pathogenic |
Genic upstream transcript variant, splice acceptor variant, genic downstream transcript variant |
|
rs1057517226 |
G>C |
Likely-pathogenic |
Genic upstream transcript variant, splice acceptor variant, genic downstream transcript variant |
|
rs1057517248 |
A>- |
Likely-pathogenic |
Genic downstream transcript variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant, frameshift variant |
|
rs1057517253 |
C>A,G |
Pathogenic, likely-pathogenic |
Genic downstream transcript variant, genic upstream transcript variant, non coding transcript variant, stop gained, coding sequence variant |
|
rs1057517300 |
A>- |
Likely-pathogenic |
Genic downstream transcript variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant, frameshift variant |
|
rs1057517358 |
A>G |
Likely-pathogenic |
Genic upstream transcript variant, splice acceptor variant, genic downstream transcript variant |
|
rs1057517427 |
G>T |
Uncertain-significance, likely-pathogenic |
Genic downstream transcript variant, splice donor variant |
|
rs1057517452 |
T>- |
Likely-pathogenic |
Non coding transcript variant, genic downstream transcript variant, coding sequence variant, frameshift variant |
|
rs1057518965 |
A>- |
Pathogenic |
Genic downstream transcript variant, genic upstream transcript variant, non coding transcript variant, 5 prime UTR variant, coding sequence variant, frameshift variant |
|
rs1057519330 |
G>- |
Likely-pathogenic |
Genic downstream transcript variant, intron variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant, frameshift variant |
|
rs1057519364 |
G>T |
Likely-pathogenic |
Genic downstream transcript variant, genic upstream transcript variant, non coding transcript variant, stop gained, coding sequence variant |
|
rs1057520229 |
T>C |
Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance |
Genic upstream transcript variant, intron variant, genic downstream transcript variant |
|
rs1057520640 |
C>A |
Pathogenic, pathogenic-likely-pathogenic |
Non coding transcript variant, genic downstream transcript variant, stop gained, coding sequence variant |
|
rs1057522619 |
T>C |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Genic upstream transcript variant, intron variant, genic downstream transcript variant |
|
rs1057524111 |
T>A,C |
Likely-benign, pathogenic |
Genic downstream transcript variant, synonymous variant, genic upstream transcript variant, non coding transcript variant, stop gained, coding sequence variant |
|
rs1060501528 |
G>T |
Pathogenic |
Genic downstream transcript variant, non coding transcript variant, stop gained, 5 prime UTR variant, coding sequence variant |
|
rs1060501529 |
TT>- |
Pathogenic |
Genic downstream transcript variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant, frameshift variant |
|
rs1060501551 |
A>T |
Pathogenic, pathogenic-likely-pathogenic |
Non coding transcript variant, genic downstream transcript variant, stop gained, coding sequence variant |
|
rs1060501580 |
AG>- |
Pathogenic |
Non coding transcript variant, genic downstream transcript variant, coding sequence variant, frameshift variant |
|
rs1060501587 |
ATCA>- |
Pathogenic |
Genic downstream transcript variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant, frameshift variant |
|
rs1060501599 |
G>A,T |
Pathogenic, uncertain-significance |
Genic downstream transcript variant, genic upstream transcript variant, non coding transcript variant, missense variant, stop gained, coding sequence variant |
|
rs1060501600 |
TCAT>- |
Pathogenic |
Genic downstream transcript variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant, frameshift variant |
|
rs1060501609 |
GA>- |
Pathogenic |
Genic downstream transcript variant, intron variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant, frameshift variant |
|
rs1060501610 |
->T |
Pathogenic, likely-pathogenic |
Genic downstream transcript variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant, frameshift variant |
|
rs1060501627 |
C>G,T |
Pathogenic |
Genic downstream transcript variant, intron variant, missense variant, stop gained, coding sequence variant |
|
rs1060501642 |
C>- |
Pathogenic |
Genic downstream transcript variant, genic upstream transcript variant, non coding transcript variant, 5 prime UTR variant, coding sequence variant, frameshift variant |
|
rs1060501659 |
AAGT>- |
Pathogenic |
Genic downstream transcript variant, intron variant, coding sequence variant, frameshift variant |
|
rs1060501669 |
G>A |
Pathogenic |
Non coding transcript variant, genic downstream transcript variant, stop gained, coding sequence variant |
|
rs1060501670 |
A>- |
Pathogenic |
Genic downstream transcript variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant, frameshift variant |
|
rs1060501676 |
AAAAT>- |
Pathogenic |
Genic downstream transcript variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant, frameshift variant |
|
rs1060501677 |
C>- |
Pathogenic |
Genic downstream transcript variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant, frameshift variant |
|
rs1060501679 |
TAG>AA |
Pathogenic |
Genic downstream transcript variant, genic upstream transcript variant, non coding transcript variant, stop gained, inframe indel, coding sequence variant |
|
rs1060501684 |
A>- |
Pathogenic |
Genic downstream transcript variant, genic upstream transcript variant, non coding transcript variant, 5 prime UTR variant, coding sequence variant, frameshift variant |
|
rs1060501687 |
G>T |
Pathogenic |
Genic downstream transcript variant, genic upstream transcript variant, non coding transcript variant, stop gained, coding sequence variant |
|
rs1060501690 |
G>A |
Likely-pathogenic |
Genic upstream transcript variant, genic downstream transcript variant, splice donor variant |
|
rs1060501691 |
C>G,T |
Pathogenic, uncertain-significance |
Genic downstream transcript variant, genic upstream transcript variant, non coding transcript variant, missense variant, stop gained, coding sequence variant |
|
rs1060501692 |
G>A |
Pathogenic |
Splice acceptor variant, genic downstream transcript variant |
|
rs1060501701 |
C>- |
Pathogenic |
Genic downstream transcript variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant, frameshift variant |
|
rs1060501702 |
G>- |
Pathogenic |
Genic downstream transcript variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant, frameshift variant |
|
rs1060501703 |
A>G |
Likely-pathogenic |
Genic upstream transcript variant, splice acceptor variant, genic downstream transcript variant |
|
rs1060501706 |
G>C,T |
Likely-pathogenic |
Splice acceptor variant, genic downstream transcript variant |
|
rs1060501711 |
T>A |
Pathogenic |
Genic downstream transcript variant, genic upstream transcript variant, non coding transcript variant, stop gained, coding sequence variant |
|
rs1060504273 |
T>C |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Genic downstream transcript variant, intron variant, synonymous variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant |
|
rs1064792938 |
CTGT>TAAAATAAA |
Pathogenic |
Genic downstream transcript variant, non coding transcript variant, stop gained, inframe indel, coding sequence variant |
|
rs1064792940 |
GTGGTTTACTTTAAGATTA>- |
Likely-pathogenic |
Genic downstream transcript variant, intron variant, splice acceptor variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant |
|
rs1064792998 |
->T,TTT |
Pathogenic, uncertain-significance |
Genic downstream transcript variant, intron variant, genic upstream transcript variant, non coding transcript variant, stop gained, inframe insertion, coding sequence variant |
|
rs1064793031 |
GG>T |
Pathogenic |
Genic downstream transcript variant, genic upstream transcript variant, non coding transcript variant, 5 prime UTR variant, coding sequence variant, frameshift variant |
|
rs1064793033 |
GTGGGTG>- |
Pathogenic |
Genic downstream transcript variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant, frameshift variant |
|
rs1064793390 |
A>- |
Pathogenic |
Non coding transcript variant, genic downstream transcript variant, coding sequence variant, frameshift variant |
|
rs1064793518 |
G>A,T |
Pathogenic, likely-pathogenic |
Genic upstream transcript variant, upstream transcript variant, splice acceptor variant, genic downstream transcript variant |
|
rs1064794039 |
G>C,T |
Pathogenic, uncertain-significance |
Genic downstream transcript variant, genic upstream transcript variant, non coding transcript variant, missense variant, stop gained, coding sequence variant |
|
rs1064794234 |
A>- |
Pathogenic |
Genic downstream transcript variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant, frameshift variant |
|
rs1064794236 |
CTTA>- |
Pathogenic |
Non coding transcript variant, genic downstream transcript variant, stop gained, coding sequence variant |
|
rs1064794437 |
->AG |
Pathogenic, likely-pathogenic |
Genic downstream transcript variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant, frameshift variant |
|
rs1064794468 |
TAAATAGAAG>- |
Likely-pathogenic |
Genic downstream transcript variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant, frameshift variant |
|
rs1064795394 |
GTTTGT>TAAAA |
Likely-pathogenic |
Non coding transcript variant, genic downstream transcript variant, coding sequence variant, frameshift variant |
|
rs1064795556 |
GTTCTGAGC>TTTCTGAGT |
Likely-pathogenic |
Genic downstream transcript variant, genic upstream transcript variant, non coding transcript variant, stop gained, coding sequence variant |
|
rs1064795624 |
GA>- |
Pathogenic |
Genic downstream transcript variant, intron variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant, frameshift variant |
|
rs1064795831 |
GT>- |
Pathogenic, likely-pathogenic |
Genic downstream transcript variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant, frameshift variant |
|
rs1064795885 |
G>- |
Likely-pathogenic |
Genic downstream transcript variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant, frameshift variant |
|
rs1064796002 |
A>G |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Genic upstream transcript variant, non coding transcript variant, missense variant, 5 prime UTR variant, coding sequence variant |
|
rs1064796055 |
CAAACAG>TAAACAT |
Pathogenic |
Genic downstream transcript variant, genic upstream transcript variant, non coding transcript variant, stop gained, inframe indel, coding sequence variant |
|
rs1064796083 |
TC>AT |
Likely-pathogenic |
Genic downstream transcript variant, genic upstream transcript variant, non coding transcript variant, stop gained, inframe indel, coding sequence variant |
|
rs1064796556 |
G>- |
Pathogenic |
Genic downstream transcript variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant, frameshift variant |
|
rs1131691148 |
TTTA>- |
Pathogenic |
Genic downstream transcript variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant, frameshift variant |
|
rs1131691151 |
CT>- |
Pathogenic |
Genic downstream transcript variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant, frameshift variant |
|
rs1131691153 |
G>- |
Likely-pathogenic |
Genic downstream transcript variant, genic upstream transcript variant, non coding transcript variant, splice donor variant, coding sequence variant |
|
rs1131691154 |
A>G,T |
Likely-benign, likely-pathogenic |
Genic upstream transcript variant, intron variant, genic downstream transcript variant |
|
rs1131691155 |
->T |
Pathogenic |
Genic downstream transcript variant, genic upstream transcript variant, non coding transcript variant, stop gained, coding sequence variant |
|
rs1131691159 |
G>A |
Pathogenic |
Genic downstream transcript variant, splice donor variant |
|
rs1131691160 |
A>T |
Pathogenic |
Genic downstream transcript variant, genic upstream transcript variant, non coding transcript variant, stop gained, coding sequence variant |
|
rs1131691161 |
->T |
Pathogenic |
Genic downstream transcript variant, genic upstream transcript variant, non coding transcript variant, 5 prime UTR variant, coding sequence variant, frameshift variant |
|
rs1131691163 |
->A |
Pathogenic |
Genic downstream transcript variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant, frameshift variant |
|
rs1131691164 |
C>T |
Pathogenic, likely-pathogenic |
Non coding transcript variant, genic downstream transcript variant, stop gained, coding sequence variant |
|
rs1131691165 |
->C |
Pathogenic |
Genic downstream transcript variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant, frameshift variant |
|
rs1131691166 |
->AGAC |
Pathogenic |
Genic downstream transcript variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant, frameshift variant |
|
rs1175457710 |
G>- |
Pathogenic |
Coding sequence variant, genic upstream transcript variant, non coding transcript variant, frameshift variant, genic downstream transcript variant |
|
rs1185204988 |
C>G,T |
Pathogenic-likely-pathogenic, pathogenic |
Missense variant, genic downstream transcript variant, intron variant, stop gained, non coding transcript variant, genic upstream transcript variant, coding sequence variant |
|
rs1214541502 |
CCCT>- |
Pathogenic |
Non coding transcript variant, 3 prime UTR variant, coding sequence variant, frameshift variant, genic downstream transcript variant |
|
rs1218815157 |
T>C,G |
Likely-pathogenic |
Splice donor variant, genic upstream transcript variant, genic downstream transcript variant |
|
rs1259911051 |
G>A |
Likely-pathogenic |
Genic upstream transcript variant, splice acceptor variant |
|
rs1281817400 |
C>T |
Pathogenic |
Genic upstream transcript variant, stop gained, coding sequence variant, genic downstream transcript variant, non coding transcript variant |
|
rs1294578913 |
G>A |
Pathogenic |
Non coding transcript variant, stop gained, coding sequence variant, genic downstream transcript variant |
|
rs1316146972 |
C>G |
Conflicting-interpretations-of-pathogenicity |
Genic downstream transcript variant, intron variant |
|
rs1328985852 |
G>A |
Likely-pathogenic |
Genic downstream transcript variant, genic upstream transcript variant, splice acceptor variant |
|
rs1329359780 |
T>C,G |
Pathogenic, uncertain-significance |
Stop gained, coding sequence variant, non coding transcript variant, genic downstream transcript variant, missense variant |
|
rs1363186839 |
T>C,G |
Pathogenic |
Coding sequence variant, genic downstream transcript variant, genic upstream transcript variant, 5 prime UTR variant, synonymous variant, non coding transcript variant, stop gained |
|
rs1363726955 |
C>A,G |
Pathogenic, likely-pathogenic |
Coding sequence variant, genic downstream transcript variant, genic upstream transcript variant, 5 prime UTR variant, non coding transcript variant, stop gained, intron variant |
|
rs1368412801 |
C>G,T |
Pathogenic, uncertain-significance |
Coding sequence variant, genic downstream transcript variant, stop gained, non coding transcript variant, missense variant |
|
rs1380265721 |
GTATAAAGGAAATGTTTACTGTTTTG>- |
Likely-pathogenic |
Upstream transcript variant, splice donor variant, intron variant, genic upstream transcript variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant, 5 prime UTR variant |
|
rs1386063673 |
C>G,T |
Pathogenic |
Non coding transcript variant, genic upstream transcript variant, stop gained, missense variant, coding sequence variant, genic downstream transcript variant |
|
rs1394502687 |
TTTG>- |
Pathogenic |
Non coding transcript variant, genic upstream transcript variant, frameshift variant, coding sequence variant, genic downstream transcript variant |
|
rs1402299151 |
G>A |
Likely-pathogenic |
Splice acceptor variant, genic upstream transcript variant, genic downstream transcript variant |
|
rs1408719214 |
G>A,T |
Uncertain-significance, likely-pathogenic |
Splice acceptor variant, genic upstream transcript variant, genic downstream transcript variant |
|
rs1417190414 |
A>G |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Genic upstream transcript variant, intron variant, genic downstream transcript variant |
|
rs1427164968 |
->A |
Pathogenic |
Intron variant, genic downstream transcript variant, coding sequence variant, frameshift variant, non coding transcript variant, genic upstream transcript variant, 5 prime UTR variant |
|
rs1442299125 |
T>A,G |
Pathogenic |
Coding sequence variant, genic upstream transcript variant, stop gained, genic downstream transcript variant, non coding transcript variant |
|
rs1459299108 |
->C |
Pathogenic |
Frameshift variant, non coding transcript variant, genic upstream transcript variant, genic downstream transcript variant, coding sequence variant |
|
rs1468995507 |
G>A |
Conflicting-interpretations-of-pathogenicity |
Missense variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant |
|
rs1469427343 |
T>- |
Pathogenic |
Frameshift variant, non coding transcript variant, genic upstream transcript variant, genic downstream transcript variant, coding sequence variant, 5 prime UTR variant |
|
rs1478081526 |
->A |
Pathogenic, pathogenic-likely-pathogenic |
Genic upstream transcript variant, coding sequence variant, non coding transcript variant, genic downstream transcript variant, stop gained |
|
rs1487902875 |
G>A |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Genic upstream transcript variant, coding sequence variant, non coding transcript variant, missense variant, genic downstream transcript variant |
|
rs1555053972 |
T>- |
Likely-pathogenic |
Splice donor variant, genic upstream transcript variant |
|
rs1555054039 |
C>G,T |
Uncertain-significance, likely-pathogenic |
Intron variant, genic upstream transcript variant |
|
rs1555054043 |
G>A |
Likely-pathogenic |
Splice acceptor variant, genic upstream transcript variant |
|
rs1555054197 |
->A |
Likely-pathogenic |
5 prime UTR variant, coding sequence variant, non coding transcript variant, frameshift variant, genic upstream transcript variant |
|
rs1555054243 |
G>- |
Pathogenic |
5 prime UTR variant, coding sequence variant, non coding transcript variant, frameshift variant, genic upstream transcript variant |
|
rs1555055309 |
T>- |
Pathogenic |
5 prime UTR variant, coding sequence variant, non coding transcript variant, frameshift variant, genic upstream transcript variant |
|
rs1555055356 |
G>A |
Pathogenic-likely-pathogenic, likely-pathogenic |
Coding sequence variant, splice donor variant, missense variant, genic upstream transcript variant |
|
rs1555055358 |
T>G |
Likely-pathogenic |
Coding sequence variant, splice donor variant, missense variant, genic upstream transcript variant |
|
rs1555059095 |
AATTA>- |
Pathogenic |
5 prime UTR variant, coding sequence variant, genic upstream transcript variant, intron variant, non coding transcript variant, frameshift variant, genic downstream transcript variant |
|
rs1555059330 |
->A |
Likely-pathogenic |
5 prime UTR variant, coding sequence variant, genic upstream transcript variant, intron variant, non coding transcript variant, frameshift variant, genic downstream transcript variant |
|
rs1555059333 |
A>- |
Pathogenic |
5 prime UTR variant, coding sequence variant, genic upstream transcript variant, intron variant, non coding transcript variant, frameshift variant, genic downstream transcript variant |
|
rs1555059380 |
->G |
Pathogenic |
5 prime UTR variant, coding sequence variant, genic upstream transcript variant, intron variant, non coding transcript variant, frameshift variant, genic downstream transcript variant |
|
rs1555059421 |
G>- |
Pathogenic |
5 prime UTR variant, stop gained, coding sequence variant, genic upstream transcript variant, intron variant, non coding transcript variant, genic downstream transcript variant |
|
rs1555059459 |
T>A |
Pathogenic |
5 prime UTR variant, stop gained, coding sequence variant, genic upstream transcript variant, intron variant, non coding transcript variant, genic downstream transcript variant |
|
rs1555059464 |
A>- |
Pathogenic |
5 prime UTR variant, coding sequence variant, genic upstream transcript variant, intron variant, non coding transcript variant, frameshift variant, genic downstream transcript variant |
|
rs1555059513 |
->G |
Pathogenic |
5 prime UTR variant, coding sequence variant, genic upstream transcript variant, intron variant, non coding transcript variant, frameshift variant, genic downstream transcript variant |
|
rs1555059522 |
AGGTATGTTTTGAAGGTT>- |
Likely-pathogenic |
5 prime UTR variant, coding sequence variant, genic upstream transcript variant, intron variant, non coding transcript variant, splice donor variant, genic downstream transcript variant |
|
rs1555066388 |
T>G |
Pathogenic |
5 prime UTR variant, stop gained, coding sequence variant, genic upstream transcript variant, non coding transcript variant, genic downstream transcript variant |
|
rs1555066551 |
C>T |
Pathogenic, likely-pathogenic |
5 prime UTR variant, stop gained, coding sequence variant, genic upstream transcript variant, non coding transcript variant, genic downstream transcript variant |
|
rs1555066917 |
C>T |
Pathogenic-likely-pathogenic, pathogenic |
5 prime UTR variant, stop gained, coding sequence variant, genic upstream transcript variant, non coding transcript variant, genic downstream transcript variant |
|
rs1555067034 |
T>- |
Pathogenic |
5 prime UTR variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant, frameshift variant, genic downstream transcript variant |
|
rs1555067251 |
G>- |
Pathogenic |
5 prime UTR variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant, frameshift variant, genic downstream transcript variant |
|
rs1555067335 |
A>- |
Pathogenic, likely-pathogenic |
5 prime UTR variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant, frameshift variant, genic downstream transcript variant |
|
rs1555067355 |
T>AA |
Pathogenic |
Genic upstream transcript variant, splice donor variant, genic downstream transcript variant |
|
rs1555068404 |
GAGAT>- |
Pathogenic |
5 prime UTR variant, coding sequence variant, genic upstream transcript variant, upstream transcript variant, non coding transcript variant, frameshift variant, genic downstream transcript variant |
|
rs1555068471 |
G>T |
Pathogenic |
5 prime UTR variant, stop gained, coding sequence variant, genic upstream transcript variant, non coding transcript variant, genic downstream transcript variant |
|
rs1555068609 |
GT>- |
Pathogenic |
5 prime UTR variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant, frameshift variant, genic downstream transcript variant |
|
rs1555068615 |
C>T |
Pathogenic |
5 prime UTR variant, stop gained, coding sequence variant, genic upstream transcript variant, non coding transcript variant, genic downstream transcript variant |
|
rs1555069514 |
A>C,T |
Likely-pathogenic |
Genic upstream transcript variant, splice acceptor variant, intron variant, genic downstream transcript variant |
|
rs1555069577 |
G>T |
Pathogenic-likely-pathogenic |
Stop gained, coding sequence variant, genic upstream transcript variant, intron variant, non coding transcript variant, genic downstream transcript variant |
|
rs1555069617 |
->A |
Pathogenic, likely-pathogenic |
Stop gained, coding sequence variant, genic upstream transcript variant, intron variant, non coding transcript variant, genic downstream transcript variant |
|
rs1555069653 |
G>- |
Pathogenic |
Coding sequence variant, genic upstream transcript variant, intron variant, non coding transcript variant, frameshift variant, genic downstream transcript variant |
|
rs1555069657 |
G>A,T |
Uncertain-significance, pathogenic |
Stop gained, coding sequence variant, genic upstream transcript variant, missense variant, intron variant, non coding transcript variant, genic downstream transcript variant |
|
rs1555069677 |
CA>- |
Pathogenic |
Inframe indel, stop gained, coding sequence variant, genic upstream transcript variant, intron variant, non coding transcript variant, genic downstream transcript variant |
|
rs1555069815 |
T>- |
Pathogenic-likely-pathogenic, pathogenic |
Coding sequence variant, genic upstream transcript variant, intron variant, non coding transcript variant, frameshift variant, genic downstream transcript variant |
|
rs1555069881 |
G>A |
Likely-pathogenic |
Genic upstream transcript variant, splice donor variant, intron variant, genic downstream transcript variant |
|
rs1555070678 |
A>G,T |
Uncertain-significance, likely-pathogenic |
5 prime UTR variant, stop gained, coding sequence variant, genic upstream transcript variant, missense variant, non coding transcript variant, genic downstream transcript variant |
|
rs1555070694 |
AACT>- |
Likely-pathogenic |
5 prime UTR variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant, frameshift variant, genic downstream transcript variant |
|
rs1555070719 |
A>- |
Likely-pathogenic |
5 prime UTR variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant, frameshift variant, genic downstream transcript variant |
|
rs1555070739 |
->A |
Pathogenic |
Coding sequence variant, genic upstream transcript variant, non coding transcript variant, frameshift variant, genic downstream transcript variant |
|
rs1555070745 |
TC>- |
Pathogenic |
Coding sequence variant, genic upstream transcript variant, non coding transcript variant, frameshift variant, genic downstream transcript variant |
|
rs1555070786 |
G>A,T |
Uncertain-significance, likely-pathogenic |
Stop gained, coding sequence variant, missense variant, genic upstream transcript variant, non coding transcript variant, genic downstream transcript variant |
|
rs1555070805 |
->C |
Pathogenic |
Coding sequence variant, genic upstream transcript variant, non coding transcript variant, frameshift variant, genic downstream transcript variant |
|
rs1555070832 |
T>- |
Likely-pathogenic |
Coding sequence variant, genic upstream transcript variant, non coding transcript variant, frameshift variant, genic downstream transcript variant |
|
rs1555070947 |
GA>- |
Pathogenic, likely-pathogenic |
Coding sequence variant, genic upstream transcript variant, non coding transcript variant, frameshift variant, genic downstream transcript variant |
|
rs1555070980 |
T>G |
Pathogenic-likely-pathogenic, pathogenic, likely-pathogenic |
Stop gained, coding sequence variant, genic upstream transcript variant, non coding transcript variant, genic downstream transcript variant |
|
rs1555070994 |
G>- |
Pathogenic |
Coding sequence variant, genic upstream transcript variant, non coding transcript variant, frameshift variant, genic downstream transcript variant |
|
rs1555071002 |
->T |
Pathogenic |
Coding sequence variant, genic upstream transcript variant, non coding transcript variant, frameshift variant, genic downstream transcript variant |
|
rs1555071075 |
C>T |
Pathogenic |
Stop gained, coding sequence variant, genic upstream transcript variant, non coding transcript variant, genic downstream transcript variant |
|
rs1555071103 |
C>- |
Pathogenic |
Coding sequence variant, genic upstream transcript variant, non coding transcript variant, frameshift variant, genic downstream transcript variant |
|
rs1555071109 |
T>C,G |
Uncertain-significance, likely-pathogenic |
Coding sequence variant, missense variant, genic upstream transcript variant, non coding transcript variant, genic downstream transcript variant |
|
rs1555072008 |
TTAG>- |
Likely-pathogenic |
Coding sequence variant, genic upstream transcript variant, non coding transcript variant, frameshift variant, genic downstream transcript variant |
|
rs1555072012 |
->T |
Pathogenic-likely-pathogenic |
Coding sequence variant, genic upstream transcript variant, non coding transcript variant, frameshift variant, genic downstream transcript variant |
|
rs1555072063 |
GTGCCTCCAATTCTTCACAGGTAATTTAAGTTCATTAGCATGCTGCTGTTTTTTTTGTTTGTTTTATCAGGCTCTCTCCACTTATTTGATGCCAGATGGCTTTATTTTATA>- |
Likely-pathogenic |
Coding sequence variant, genic upstream transcript variant, intron variant, non coding transcript variant, splice donor variant, genic downstream transcript variant |
|
rs1555072480 |
GAGT>- |
Pathogenic |
Coding sequence variant, genic upstream transcript variant, non coding transcript variant, frameshift variant, genic downstream transcript variant |
|
rs1555072492 |
->T |
Pathogenic |
Coding sequence variant, genic upstream transcript variant, non coding transcript variant, frameshift variant, genic downstream transcript variant |
|
rs1555073065 |
G>A,T |
Likely-pathogenic |
Genic upstream transcript variant, splice acceptor variant, genic downstream transcript variant |
|
rs1555073111 |
AGAA>- |
Pathogenic |
Coding sequence variant, genic upstream transcript variant, non coding transcript variant, frameshift variant, genic downstream transcript variant |
|
rs1555073243 |
->A |
Pathogenic |
Coding sequence variant, genic upstream transcript variant, non coding transcript variant, frameshift variant, genic downstream transcript variant |
|
rs1555073282 |
->GAGA |
Pathogenic |
Coding sequence variant, genic upstream transcript variant, non coding transcript variant, frameshift variant, genic downstream transcript variant |
|
rs1555073529 |
TCTGA>- |
Pathogenic |
Coding sequence variant, genic upstream transcript variant, non coding transcript variant, frameshift variant, genic downstream transcript variant |
|
rs1555073553 |
G>T |
Likely-pathogenic |
Genic upstream transcript variant, splice donor variant, genic downstream transcript variant |
|
rs1555074971 |
->T |
Pathogenic |
Coding sequence variant, genic upstream transcript variant, non coding transcript variant, frameshift variant, genic downstream transcript variant |
|
rs1555074976 |
->GTAAT |
Likely-pathogenic |
Inframe indel, stop gained, coding sequence variant, genic upstream transcript variant, non coding transcript variant, genic downstream transcript variant |
|
rs1555075037 |
T>C |
Likely-pathogenic |
Genic upstream transcript variant, splice donor variant, genic downstream transcript variant |
|
rs1555075658 |
G>T |
Pathogenic |
Stop gained, coding sequence variant, genic upstream transcript variant, non coding transcript variant, genic downstream transcript variant |
|
rs1555075690 |
TAAAAAT>- |
Pathogenic |
Coding sequence variant, genic upstream transcript variant, non coding transcript variant, frameshift variant, genic downstream transcript variant |
|
rs1555075721 |
G>T |
Pathogenic |
Stop gained, coding sequence variant, genic upstream transcript variant, non coding transcript variant, genic downstream transcript variant |
|
rs1555075781 |
C>G,T |
Uncertain-significance, pathogenic |
Stop gained, coding sequence variant, missense variant, genic upstream transcript variant, non coding transcript variant, genic downstream transcript variant |
|
rs1555082050 |
A>C,G,T |
Likely-pathogenic |
Genic upstream transcript variant, splice acceptor variant, genic downstream transcript variant |
|
rs1555082160 |
->A |
Pathogenic |
Coding sequence variant, genic upstream transcript variant, non coding transcript variant, frameshift variant, genic downstream transcript variant |
|
rs1555082253 |
A>G |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, missense variant, genic upstream transcript variant, non coding transcript variant, genic downstream transcript variant |
|
rs1555082257 |
AT>- |
Likely-pathogenic |
Coding sequence variant, genic upstream transcript variant, non coding transcript variant, frameshift variant, genic downstream transcript variant |
|
rs1555082344 |
G>- |
Pathogenic |
Coding sequence variant, genic upstream transcript variant, non coding transcript variant, frameshift variant, genic downstream transcript variant |
|
rs1555083096 |
T>C,G |
Uncertain-significance, pathogenic |
Stop gained, coding sequence variant, missense variant, genic upstream transcript variant, non coding transcript variant, genic downstream transcript variant |
|
rs1555083131 |
C>T |
Pathogenic |
Stop gained, coding sequence variant, genic upstream transcript variant, non coding transcript variant, genic downstream transcript variant |
|
rs1555083198 |
->G |
Pathogenic |
Coding sequence variant, genic upstream transcript variant, non coding transcript variant, frameshift variant, genic downstream transcript variant |
|
rs1555083267 |
T>- |
Pathogenic |
Coding sequence variant, genic upstream transcript variant, non coding transcript variant, frameshift variant, genic downstream transcript variant |
|
rs1555083315 |
->T |
Pathogenic |
Coding sequence variant, genic upstream transcript variant, non coding transcript variant, frameshift variant, genic downstream transcript variant |
|
rs1555083435 |
C>- |
Pathogenic |
Coding sequence variant, genic upstream transcript variant, non coding transcript variant, frameshift variant, genic downstream transcript variant |
|
rs1555083469 |
G>T |
Likely-pathogenic |
Genic upstream transcript variant, splice donor variant, genic downstream transcript variant |
|
rs1555084723 |
G>T |
Pathogenic |
Stop gained, coding sequence variant, genic upstream transcript variant, non coding transcript variant, genic downstream transcript variant |
|
rs1555084832 |
GTGTTCTGTTAAGCTTATAAAGTTGAACTTTTTTTTTTTTTTTACCACAGCAATGTGTGTTCTTTGTAT>- |
Likely-pathogenic |
Splice acceptor variant, coding sequence variant, genic upstream transcript variant, intron variant, non coding transcript variant, genic downstream transcript variant |
|
rs1555084836 |
GTGTTCTGTTAAGCTTATAAAGTTGAACTTTTTTTTTTTTTTTACCACAGCAATGTGTGTTCTTTGT>- |
Pathogenic |
Splice acceptor variant, coding sequence variant, genic upstream transcript variant, intron variant, non coding transcript variant, genic downstream transcript variant |
|
rs1555084931 |
G>T |
Likely-pathogenic |
Genic upstream transcript variant, splice acceptor variant, genic downstream transcript variant |
|
rs1555084947 |
GT>- |
Pathogenic |
Coding sequence variant, genic upstream transcript variant, non coding transcript variant, frameshift variant, genic downstream transcript variant |
|
rs1555085060 |
->C |
Likely-pathogenic |
Coding sequence variant, genic upstream transcript variant, non coding transcript variant, frameshift variant, genic downstream transcript variant |
|
rs1555085172 |
->T,TT |
Pathogenic-likely-pathogenic, pathogenic |
Stop gained, coding sequence variant, genic upstream transcript variant, non coding transcript variant, frameshift variant, genic downstream transcript variant |
|
rs1555085210 |
C>T |
Pathogenic |
Stop gained, coding sequence variant, genic upstream transcript variant, non coding transcript variant, genic downstream transcript variant |
|
rs1555085217 |
AA>- |
Pathogenic |
Coding sequence variant, genic upstream transcript variant, non coding transcript variant, frameshift variant, genic downstream transcript variant |
|
rs1555085973 |
G>A,T |
Likely-pathogenic |
Genic upstream transcript variant, splice acceptor variant, genic downstream transcript variant |
|
rs1555090075 |
C>- |
Pathogenic, likely-pathogenic |
Coding sequence variant, genic upstream transcript variant, non coding transcript variant, frameshift variant, genic downstream transcript variant |
|
rs1555090139 |
TACT>- |
Likely-pathogenic |
Stop gained, coding sequence variant, genic upstream transcript variant, non coding transcript variant, genic downstream transcript variant |
|
rs1555091120 |
G>A |
Likely-pathogenic |
Genic upstream transcript variant, splice acceptor variant, genic downstream transcript variant |
|
rs1555091141 |
A>- |
Pathogenic |
Coding sequence variant, genic upstream transcript variant, non coding transcript variant, frameshift variant, genic downstream transcript variant |
|
rs1555091158 |
TT>- |
Pathogenic |
Coding sequence variant, genic upstream transcript variant, non coding transcript variant, frameshift variant, genic downstream transcript variant |
|
rs1555091196 |
A>T |
Pathogenic |
Stop gained, coding sequence variant, genic upstream transcript variant, non coding transcript variant, genic downstream transcript variant |
|
rs1555091238 |
->GGTTTTATCCTGT |
Pathogenic |
Inframe indel, stop gained, coding sequence variant, genic upstream transcript variant, non coding transcript variant, genic downstream transcript variant |
|
rs1555091302 |
->CA |
Pathogenic |
Coding sequence variant, genic upstream transcript variant, non coding transcript variant, frameshift variant, genic downstream transcript variant |
|
rs1555091359 |
A>C,G,T |
Uncertain-significance, likely-pathogenic |
Stop gained, coding sequence variant, missense variant, genic upstream transcript variant, non coding transcript variant, genic downstream transcript variant |
|
rs1555091367 |
TG>- |
Pathogenic |
Coding sequence variant, genic upstream transcript variant, non coding transcript variant, frameshift variant, genic downstream transcript variant |
|
rs1555091370 |
G>- |
Pathogenic |
Stop gained, coding sequence variant, genic upstream transcript variant, non coding transcript variant, genic downstream transcript variant |
|
rs1555091431 |
T>- |
Likely-pathogenic |
Coding sequence variant, genic upstream transcript variant, non coding transcript variant, frameshift variant, genic downstream transcript variant |
|
rs1555092219 |
TTCGTGCAGGTTTTAG>- |
Pathogenic |
Splice acceptor variant, coding sequence variant, genic upstream transcript variant, intron variant, non coding transcript variant, genic downstream transcript variant |
|
rs1555092297 |
T>- |
Pathogenic |
Stop gained, coding sequence variant, genic upstream transcript variant, non coding transcript variant, genic downstream transcript variant |
|
rs1555092425 |
->AA |
Pathogenic |
Coding sequence variant, genic upstream transcript variant, non coding transcript variant, frameshift variant, genic downstream transcript variant |
|
rs1555092430 |
C>T |
Pathogenic |
Stop gained, coding sequence variant, genic upstream transcript variant, non coding transcript variant, genic downstream transcript variant |
|
rs1555092477 |
ATCTT>- |
Pathogenic |
Coding sequence variant, genic upstream transcript variant, non coding transcript variant, frameshift variant, genic downstream transcript variant |
|
rs1555093256 |
TAGATCTT>- |
Likely-pathogenic |
Splice acceptor variant, coding sequence variant, genic upstream transcript variant, intron variant, non coding transcript variant, genic downstream transcript variant |
|
rs1555093289 |
->TA |
Pathogenic |
Coding sequence variant, genic upstream transcript variant, non coding transcript variant, frameshift variant, genic downstream transcript variant |
|
rs1555093303 |
->T |
Likely-pathogenic |
Coding sequence variant, genic upstream transcript variant, non coding transcript variant, frameshift variant, genic downstream transcript variant |
|
rs1555093659 |
->CACA |
Likely-pathogenic |
Coding sequence variant, genic upstream transcript variant, non coding transcript variant, frameshift variant, genic downstream transcript variant |
|
rs1555093684 |
GA>- |
Likely-pathogenic |
Coding sequence variant, genic upstream transcript variant, non coding transcript variant, frameshift variant, genic downstream transcript variant |
|
rs1555095807 |
T>- |
Likely-pathogenic |
5 prime UTR variant, coding sequence variant, non coding transcript variant, frameshift variant, genic downstream transcript variant |
|
rs1555095841 |
T>- |
Likely-pathogenic |
5 prime UTR variant, coding sequence variant, non coding transcript variant, frameshift variant, genic downstream transcript variant |
|
rs1555095955 |
TGAGCCAGCA>- |
Pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant, genic downstream transcript variant |
|
rs1555096035 |
A>- |
Pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant, genic downstream transcript variant |
|
rs1555096057 |
CT>-,CTCT |
Pathogenic, likely-pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant, genic downstream transcript variant |
|
rs1555096975 |
T>A |
Pathogenic |
Coding sequence variant, non coding transcript variant, stop gained, genic downstream transcript variant |
|
rs1555097571 |
->T |
Pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant, genic downstream transcript variant |
|
rs1555097604 |
->A |
Pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant, genic downstream transcript variant |
|
rs1555097650 |
TA>- |
Likely-pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant, genic downstream transcript variant |
|
rs1555097894 |
G>T |
Likely-pathogenic |
Splice donor variant, genic downstream transcript variant |
|
rs1555097898 |
T>C |
Pathogenic, likely-pathogenic |
Splice donor variant, genic downstream transcript variant |
|
rs1555099760 |
T>- |
Pathogenic, likely-pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant, genic downstream transcript variant |
|
rs1555099888 |
->T |
Pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant, genic downstream transcript variant |
|
rs1555099892 |
C>A,T |
Likely-benign, pathogenic |
Stop gained, synonymous variant, coding sequence variant, non coding transcript variant, genic downstream transcript variant |
|
rs1555100005 |
T>G |
Pathogenic |
Coding sequence variant, non coding transcript variant, stop gained, genic downstream transcript variant |
|
rs1555100037 |
C>T |
Pathogenic |
Coding sequence variant, non coding transcript variant, stop gained, genic downstream transcript variant |
|
rs1555100347 |
A>C |
Likely-pathogenic |
Splice acceptor variant, genic downstream transcript variant |
|
rs1555100351 |
G>A |
Likely-pathogenic |
Splice acceptor variant, genic downstream transcript variant |
|
rs1555101791 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant, intron variant, genic downstream transcript variant |
|
rs1555101915 |
->G |
Pathogenic |
Coding sequence variant, frameshift variant, intron variant, genic downstream transcript variant |
|
rs1555103156 |
A>G,T |
Likely-pathogenic |
Splice acceptor variant, genic downstream transcript variant |
|
rs1555103301 |
G>A,T |
Uncertain-significance, pathogenic |
Stop gained, coding sequence variant, missense variant, non coding transcript variant, genic downstream transcript variant |
|
rs1555104609 |
C>T |
Pathogenic |
Coding sequence variant, non coding transcript variant, stop gained, genic downstream transcript variant |
|
rs1555104689 |
C>- |
Pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant, genic downstream transcript variant |
|
rs1555104693 |
AGTTA>- |
Pathogenic, likely-pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant, genic downstream transcript variant |
|
rs1555105579 |
G>A,T |
Likely-pathogenic |
Splice acceptor variant, genic downstream transcript variant |
|
rs1555105588 |
->A |
Pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant, genic downstream transcript variant |
|
rs1555105610 |
G>- |
Pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant, genic downstream transcript variant |
|
rs1555105660 |
TT>- |
Pathogenic, likely-pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant, genic downstream transcript variant |
|
rs1555105786 |
->GA |
Likely-pathogenic |
Coding sequence variant, non coding transcript variant, stop gained, genic downstream transcript variant |
|
rs1555105842 |
T>C |
Likely-pathogenic |
Coding sequence variant, splice donor variant, missense variant, genic downstream transcript variant |
|
rs1555106321 |
G>A,T |
Uncertain-significance, pathogenic |
Stop gained, genic downstream transcript variant, coding sequence variant, missense variant, non coding transcript variant, 3 prime UTR variant |
|
rs1555106438 |
->A |
Pathogenic |
Coding sequence variant, downstream transcript variant, non coding transcript variant, frameshift variant, genic downstream transcript variant |
|
rs1555106452 |
->A |
Pathogenic |
Coding sequence variant, downstream transcript variant, non coding transcript variant, frameshift variant, genic downstream transcript variant |
|
rs1555106493 |
T>A |
Likely-pathogenic |
Stop gained, coding sequence variant, downstream transcript variant, non coding transcript variant, genic downstream transcript variant |
|
rs1555106508 |
->T |
Pathogenic |
Coding sequence variant, downstream transcript variant, non coding transcript variant, frameshift variant, genic downstream transcript variant |
|
rs1555107263 |
TT>- |
Pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant, genic downstream transcript variant |
|
rs1555107293 |
GT>- |
Likely-pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant, genic downstream transcript variant |
|
rs1555107315 |
T>- |
Likely-pathogenic |
Coding sequence variant, non coding transcript variant, stop gained, genic downstream transcript variant |
|
rs1555107356 |
->C |
Pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant, genic downstream transcript variant |
|
rs1555107450 |
AT>- |
Pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant, genic downstream transcript variant |
|
rs1555109102 |
AA>- |
Pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant, genic downstream transcript variant |
|
rs1555109147 |
C>- |
Likely-pathogenic |
Coding sequence variant, non coding transcript variant, stop gained, genic downstream transcript variant |
|
rs1555109177 |
AA>- |
Pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant, genic downstream transcript variant |
|
rs1565344409 |
AGAA>- |
Pathogenic |
Splice acceptor variant, 5 prime UTR variant, coding sequence variant, non coding transcript variant, genic upstream transcript variant |
|
rs1565346604 |
->A |
Pathogenic |
5 prime UTR variant, coding sequence variant, non coding transcript variant, frameshift variant, genic upstream transcript variant |
|
rs1565346867 |
->A |
Pathogenic |
5 prime UTR variant, coding sequence variant, non coding transcript variant, frameshift variant, genic upstream transcript variant |
|
rs1565357383 |
C>T |
Pathogenic |
5 prime UTR variant, stop gained, coding sequence variant, genic upstream transcript variant, intron variant, non coding transcript variant, genic downstream transcript variant |
|
rs1565357473 |
G>A,C,T |
Uncertain-significance, pathogenic |
5 prime UTR variant, stop gained, coding sequence variant, genic upstream transcript variant, missense variant, intron variant, non coding transcript variant, genic downstream transcript variant |
|
rs1565369633 |
T>A,G |
Uncertain-significance, pathogenic |
5 prime UTR variant, stop gained, coding sequence variant, genic upstream transcript variant, missense variant, non coding transcript variant, genic downstream transcript variant |
|
rs1565372075 |
T>- |
Pathogenic |
5 prime UTR variant, stop gained, coding sequence variant, genic upstream transcript variant, non coding transcript variant, genic downstream transcript variant |
|
rs1565375035 |
T>- |
Pathogenic |
5 prime UTR variant, coding sequence variant, genic upstream transcript variant, upstream transcript variant, non coding transcript variant, frameshift variant, genic downstream transcript variant |
|
rs1565375055 |
ATGAT>- |
Pathogenic |
5 prime UTR variant, coding sequence variant, genic upstream transcript variant, upstream transcript variant, non coding transcript variant, frameshift variant, genic downstream transcript variant |
|
rs1565375308 |
A>- |
Pathogenic |
5 prime UTR variant, coding sequence variant, genic upstream transcript variant, upstream transcript variant, non coding transcript variant, frameshift variant, genic downstream transcript variant |
|
rs1565375710 |
A>- |
Pathogenic |
5 prime UTR variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant, frameshift variant, genic downstream transcript variant |
|
rs1565375817 |
ATGGCAGA>- |
Pathogenic |
Initiator codon variant, 5 prime UTR variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant, frameshift variant, genic downstream transcript variant |
|
rs1565381646 |
A>- |
Likely-pathogenic |
Genic upstream transcript variant, splice acceptor variant, genic downstream transcript variant |
|
rs1565382166 |
T>C,G |
Uncertain-significance, pathogenic |
5 prime UTR variant, stop gained, coding sequence variant, genic upstream transcript variant, missense variant, non coding transcript variant, genic downstream transcript variant |
|
rs1565382267 |
C>T |
Pathogenic |
Stop gained, coding sequence variant, genic upstream transcript variant, non coding transcript variant, genic downstream transcript variant |
|
rs1565382593 |
->A |
Pathogenic |
Coding sequence variant, genic upstream transcript variant, non coding transcript variant, frameshift variant, genic downstream transcript variant |
|
rs1565383194 |
->T |
Pathogenic |
Coding sequence variant, genic upstream transcript variant, non coding transcript variant, frameshift variant, genic downstream transcript variant |
|
rs1565383766 |
A>T |
Pathogenic |
Stop gained, coding sequence variant, genic upstream transcript variant, non coding transcript variant, genic downstream transcript variant |
|
rs1565385010 |
G>A,C |
Likely-pathogenic |
Genic upstream transcript variant, splice acceptor variant, genic downstream transcript variant |
|
rs1565385883 |
TCTAT>- |
Pathogenic |
Coding sequence variant, genic upstream transcript variant, non coding transcript variant, frameshift variant, genic downstream transcript variant |
|
rs1565387848 |
T>- |
Pathogenic |
Coding sequence variant, genic upstream transcript variant, non coding transcript variant, frameshift variant, genic downstream transcript variant |
|
rs1565394403 |
A>C |
Likely-pathogenic |
Genic upstream transcript variant, splice acceptor variant, genic downstream transcript variant |
|
rs1565395193 |
G>A |
Likely-pathogenic |
Genic upstream transcript variant, splice donor variant, genic downstream transcript variant |
|
rs1565396965 |
->T |
Pathogenic |
Coding sequence variant, genic upstream transcript variant, non coding transcript variant, frameshift variant, genic downstream transcript variant |
|
rs1565397022 |
G>- |
Pathogenic |
Coding sequence variant, genic upstream transcript variant, non coding transcript variant, frameshift variant, genic downstream transcript variant |
|
rs1565397179 |
AAAT>- |
Pathogenic |
Coding sequence variant, genic upstream transcript variant, non coding transcript variant, frameshift variant, genic downstream transcript variant |
|
rs1565400045 |
A>- |
Pathogenic |
Coding sequence variant, genic upstream transcript variant, non coding transcript variant, frameshift variant, genic downstream transcript variant |
|
rs1565416788 |
TAGTGATGCAAAC>- |
Pathogenic |
Coding sequence variant, genic upstream transcript variant, non coding transcript variant, frameshift variant, genic downstream transcript variant |
|
rs1565416901 |
G>T |
Pathogenic |
Stop gained, coding sequence variant, genic upstream transcript variant, non coding transcript variant, genic downstream transcript variant |
|
rs1565420196 |
CCTGCATATGGTGAGTTACGTTAAAT>A |
Likely-pathogenic |
Coding sequence variant, genic upstream transcript variant, intron variant, non coding transcript variant, splice donor variant, genic downstream transcript variant |
|
rs1565424654 |
->T |
Conflicting-interpretations-of-pathogenicity |
Genic upstream transcript variant, splice donor variant, genic downstream transcript variant |
|
rs1565425118 |
T>- |
Pathogenic |
Coding sequence variant, genic upstream transcript variant, non coding transcript variant, frameshift variant, genic downstream transcript variant |
|
rs1565427961 |
->T |
Likely-pathogenic |
Coding sequence variant, genic upstream transcript variant, non coding transcript variant, frameshift variant, genic downstream transcript variant |
|
rs1565428419 |
C>A |
Pathogenic |
Stop gained, coding sequence variant, genic upstream transcript variant, non coding transcript variant, genic downstream transcript variant |
|
rs1565429054 |
G>- |
Pathogenic |
Coding sequence variant, genic upstream transcript variant, non coding transcript variant, frameshift variant, genic downstream transcript variant |
|
rs1565429102 |
AG>- |
Pathogenic |
Coding sequence variant, genic upstream transcript variant, non coding transcript variant, frameshift variant, genic downstream transcript variant |
|
rs1565439606 |
G>C |
Likely-pathogenic |
Genic upstream transcript variant, splice donor variant, genic downstream transcript variant |
|
rs1565441511 |
G>A,T |
Uncertain-significance, pathogenic |
Stop gained, coding sequence variant, missense variant, genic upstream transcript variant, non coding transcript variant, genic downstream transcript variant |
|
rs1565447438 |
T>G |
Likely-pathogenic |
Synonymous variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant, genic downstream transcript variant |
|
rs1565452621 |
T>A |
Pathogenic |
Stop gained, 5 prime UTR variant, coding sequence variant, non coding transcript variant, genic downstream transcript variant |
|
rs1565452687 |
T>A |
Pathogenic |
Coding sequence variant, non coding transcript variant, stop gained, genic downstream transcript variant |
|
rs1565453029 |
C>- |
Pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant, genic downstream transcript variant |
|
rs1565456465 |
TA>GTT |
Pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant, genic downstream transcript variant |
|
rs1565460896 |
AT>- |
Pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant, genic downstream transcript variant |
|
rs1565461674 |
C>- |
Pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant, genic downstream transcript variant |
|
rs1565461824 |
G>- |
Likely-pathogenic |
Coding sequence variant, non coding transcript variant, splice donor variant, genic downstream transcript variant |
|
rs1565461840 |
G>A |
Likely-pathogenic |
Splice donor variant, genic downstream transcript variant |
|
rs1565463203 |
->T |
Pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant, genic downstream transcript variant |
|
rs1565466585 |
->ACATTATGAGAGC |
Pathogenic |
Coding sequence variant, frameshift variant, intron variant, genic downstream transcript variant |
|
rs1565469955 |
C>T |
Pathogenic |
Coding sequence variant, non coding transcript variant, stop gained, genic downstream transcript variant |
|
rs1565470139 |
G>- |
Pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant, genic downstream transcript variant |
|
rs1565479572 |
TAAG>- |
Likely-pathogenic |
Coding sequence variant, intron variant, downstream transcript variant, non coding transcript variant, splice donor variant, genic downstream transcript variant |
|
rs1565482453 |
G>T |
Likely-pathogenic |
Splice donor variant, genic downstream transcript variant |
|
rs1565486028 |
->G |
Pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant, genic downstream transcript variant |
|
rs1565486174 |
CTGTTGTGGACTACATG>- |
Pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant, genic downstream transcript variant |
|
rs1565486341 |
AG>- |
Pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant, genic downstream transcript variant |
|
rs1591445826 |
T>- |
Pathogenic |
Non coding transcript variant, 5 prime UTR variant, genic upstream transcript variant, coding sequence variant, frameshift variant |
|
rs1591446206 |
T>C |
Pathogenic |
Genic upstream transcript variant, splice donor variant |
|
rs1591447147 |
->G |
Pathogenic |
Non coding transcript variant, 5 prime UTR variant, genic upstream transcript variant, coding sequence variant, frameshift variant |
|
rs1591451354 |
T>G |
Pathogenic |
Non coding transcript variant, 5 prime UTR variant, genic upstream transcript variant, coding sequence variant, stop gained |
|
rs1591451795 |
->A |
Pathogenic |
Non coding transcript variant, 5 prime UTR variant, genic upstream transcript variant, coding sequence variant, frameshift variant |
|
rs1591452100 |
G>T |
Pathogenic |
Non coding transcript variant, 5 prime UTR variant, genic upstream transcript variant, coding sequence variant, stop gained |
|
rs1591452378 |
A>- |
Pathogenic |
Non coding transcript variant, 5 prime UTR variant, genic upstream transcript variant, coding sequence variant, frameshift variant |
|
rs1591474530 |
->A |
Pathogenic |
Genic downstream transcript variant, non coding transcript variant, 5 prime UTR variant, genic upstream transcript variant, coding sequence variant, frameshift variant, intron variant |
|
rs1591474736 |
GATACAG>- |
Pathogenic |
Genic downstream transcript variant, non coding transcript variant, 5 prime UTR variant, genic upstream transcript variant, coding sequence variant, stop gained, intron variant |
|
rs1591475457 |
G>A |
Pathogenic |
Genic downstream transcript variant, non coding transcript variant, 5 prime UTR variant, genic upstream transcript variant, coding sequence variant, stop gained, intron variant |
|
rs1591475608 |
C>G,T |
Uncertain-significance, pathogenic |
Genic downstream transcript variant, non coding transcript variant, 5 prime UTR variant, genic upstream transcript variant, coding sequence variant, stop gained, missense variant, intron variant |
|
rs1591491477 |
A>G |
Pathogenic |
Genic upstream transcript variant, genic downstream transcript variant, intron variant |
|
rs1591499665 |
GT>- |
Pathogenic |
Genic downstream transcript variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant, frameshift variant, intron variant |
|
rs1591500005 |
->T |
Pathogenic |
Genic downstream transcript variant, non coding transcript variant, 5 prime UTR variant, genic upstream transcript variant, coding sequence variant, frameshift variant |
|
rs1591500220 |
A>- |
Pathogenic |
Genic downstream transcript variant, non coding transcript variant, 5 prime UTR variant, genic upstream transcript variant, coding sequence variant, frameshift variant |
|
rs1591503359 |
->A |
Pathogenic |
Genic downstream transcript variant, non coding transcript variant, 5 prime UTR variant, genic upstream transcript variant, coding sequence variant, frameshift variant |
|
rs1591503565 |
C>- |
Pathogenic |
Genic downstream transcript variant, non coding transcript variant, 5 prime UTR variant, genic upstream transcript variant, coding sequence variant, frameshift variant |
|
rs1591504396 |
->AAAAGAAGTCATTATTGAATTATTT |
Pathogenic |
Genic downstream transcript variant, non coding transcript variant, 5 prime UTR variant, genic upstream transcript variant, coding sequence variant, inframe indel, stop gained |
|
rs1591510553 |
G>A |
Pathogenic |
Genic downstream transcript variant, non coding transcript variant, 5 prime UTR variant, genic upstream transcript variant, coding sequence variant, stop gained, upstream transcript variant |
|
rs1591510597 |
G>- |
Pathogenic |
Genic downstream transcript variant, non coding transcript variant, 5 prime UTR variant, genic upstream transcript variant, coding sequence variant, frameshift variant, upstream transcript variant |
|
rs1591511511 |
CT>- |
Pathogenic |
Genic downstream transcript variant, non coding transcript variant, 5 prime UTR variant, genic upstream transcript variant, coding sequence variant, frameshift variant |
|
rs1591517089 |
CAGGTTTTTA>- |
Likely-pathogenic |
Genic downstream transcript variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant, intron variant, splice acceptor variant |
|
rs1591517182 |
->A |
Pathogenic |
Genic downstream transcript variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant, frameshift variant, intron variant |
|
rs1591517314 |
GGAGATTTCTCAATCTTACACTACTACACAAAGAGAATCTAGTGATTACAGTGTCCCTTGCAAAAGGAAGAAAATAGAACTAGGCTGGGAAGTAATAAAAGATCACCTTCAGAAGTCACAGAATGATTTTGATCTTGTGCCTTGGTAAAGTGTTACCATTTTCTCATTCAGTGTCATTTTAATCTCTTGTATGTTATTTTTCAGAAAACTTTCAGTGGAATCCTTTCATCTCAACCAGAACTAAGTCATTTGTCT |
Likely-pathogenic |
Genic downstream transcript variant, splice donor variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant, intron variant |
|
rs1591517456 |
C>- |
Pathogenic |
Genic downstream transcript variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant, stop gained, intron variant |
|
rs1591517571 |
AA>- |
Pathogenic |
Genic downstream transcript variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant, frameshift variant, intron variant |
|
rs1591518293 |
->CCTTG |
Pathogenic |
Genic downstream transcript variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant, frameshift variant, intron variant |
|
rs1591523010 |
CAAG>- |
Pathogenic |
Genic downstream transcript variant, non coding transcript variant, 5 prime UTR variant, genic upstream transcript variant, coding sequence variant, frameshift variant |
|
rs1591524613 |
C>- |
Pathogenic |
Genic downstream transcript variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant, frameshift variant |
|
rs1591527327 |
CCAGTATAGTTCCA>- |
Pathogenic |
Genic downstream transcript variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant, frameshift variant |
|
rs1591527355 |
C>- |
Pathogenic |
Genic downstream transcript variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant, frameshift variant |
|
rs1591528248 |
->A |
Pathogenic |
Genic downstream transcript variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant, frameshift variant |
|
rs1591530854 |
TG>- |
Pathogenic |
Genic downstream transcript variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant, frameshift variant |
|
rs1591530991 |
->C |
Pathogenic |
Genic downstream transcript variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant, frameshift variant |
|
rs1591534005 |
C>G |
Pathogenic |
Genic downstream transcript variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant, stop gained |
|
rs1591534382 |
T>- |
Pathogenic |
Genic downstream transcript variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant, frameshift variant |
|
rs1591534511 |
G>- |
Pathogenic |
Genic downstream transcript variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant, frameshift variant |
|
rs1591534936 |
T>G |
Pathogenic |
Genic downstream transcript variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant, stop gained |
|
rs1591535064 |
TC>- |
Pathogenic |
Genic downstream transcript variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant, frameshift variant |
|
rs1591541888 |
T>- |
Pathogenic |
Genic downstream transcript variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant, frameshift variant |
|
rs1591546645 |
->T |
Pathogenic |
Genic downstream transcript variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant, frameshift variant |
|
rs1591587103 |
->C |
Pathogenic |
Genic downstream transcript variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant, frameshift variant |
|
rs1591587673 |
A>- |
Pathogenic |
Genic downstream transcript variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant, frameshift variant |
|
rs1591588646 |
->A |
Pathogenic |
Genic downstream transcript variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant, frameshift variant |
|
rs1591593439 |
GAGTGCTTTTTAT>- |
Likely-pathogenic |
Genic upstream transcript variant, genic downstream transcript variant, intron variant |
|
rs1591604513 |
AA>- |
Pathogenic |
Frameshift variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant, genic downstream transcript variant |
|
rs1591604769 |
T>G |
Likely-pathogenic |
Missense variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant, genic downstream transcript variant |
|
rs1591608334 |
A>T |
Pathogenic |
Stop gained, coding sequence variant, genic upstream transcript variant, non coding transcript variant, genic downstream transcript variant |
|
rs1591608653 |
TGCTTGAGGT>- |
Likely-pathogenic |
Splice donor variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant, genic downstream transcript variant |
|
rs1591631866 |
->AGATTGTTCCAGGA |
Pathogenic |
Coding sequence variant, genic upstream transcript variant, non coding transcript variant, intron variant, genic downstream transcript variant, splice acceptor variant |
|
rs1591631876 |
A>G |
Pathogenic |
Genic downstream transcript variant, genic upstream transcript variant, splice acceptor variant |
|
rs1591632498 |
A>- |
Pathogenic |
Frameshift variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant, genic downstream transcript variant |
|
rs1591636185 |
CCCATAGTGCTGAGAACCCTGAAAC>TTGAATGAAAT |
Pathogenic |
Stop gained, coding sequence variant, genic upstream transcript variant, non coding transcript variant, inframe indel, genic downstream transcript variant |
|
rs1591636349 |
T>- |
Pathogenic |
Frameshift variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant, genic downstream transcript variant |
|
rs1591636613 |
T>G |
Pathogenic |
Stop gained, coding sequence variant, genic upstream transcript variant, non coding transcript variant, genic downstream transcript variant |
|
rs1591636817 |
T>- |
Pathogenic |
Frameshift variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant, genic downstream transcript variant |
|
rs1591641318 |
T>G |
Pathogenic |
Stop gained, coding sequence variant, genic upstream transcript variant, non coding transcript variant, genic downstream transcript variant |
|
rs1591641462 |
TGAATAC>- |
Pathogenic |
Frameshift variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant, genic downstream transcript variant |
|
rs1591645340 |
->A |
Pathogenic |
Stop gained, coding sequence variant, genic upstream transcript variant, non coding transcript variant, genic downstream transcript variant |
|
rs1591646354 |
G>- |
Pathogenic |
Frameshift variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant, genic downstream transcript variant |
|
rs1591646379 |
->TATG |
Pathogenic |
Stop gained, coding sequence variant, genic upstream transcript variant, non coding transcript variant, inframe indel, genic downstream transcript variant |
|
rs1591646429 |
->A |
Pathogenic |
Frameshift variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant, genic downstream transcript variant |
|
rs1591655633 |
T>- |
Pathogenic |
Frameshift variant, 5 prime UTR variant, coding sequence variant, non coding transcript variant, genic downstream transcript variant |
|
rs1591660745 |
AAAA>TTTTAAATGCTTTTT |
Pathogenic |
Frameshift variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant |
|
rs1591662492 |
A>G |
Likely-pathogenic |
Genic downstream transcript variant, splice acceptor variant |
|
rs1591662598 |
A>T |
Pathogenic |
Genic downstream transcript variant, coding sequence variant, stop gained, non coding transcript variant |
|
rs1591662606 |
->ATTCTTCT |
Pathogenic |
Frameshift variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant |
|
rs1591662758 |
C>- |
Pathogenic |
Frameshift variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant |
|
rs1591663236 |
AGTT>- |
Pathogenic |
Frameshift variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant |
|
rs1591663285 |
T>G |
Pathogenic |
Genic downstream transcript variant, coding sequence variant, stop gained, non coding transcript variant |
|
rs1591663478 |
A>- |
Pathogenic |
Frameshift variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant |
|
rs1591663850 |
GT>A |
Pathogenic |
Frameshift variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant |
|
rs1591673803 |
C>G |
Pathogenic |
Genic downstream transcript variant, coding sequence variant, stop gained, non coding transcript variant |
|
rs1591674707 |
->T |
Pathogenic |
Frameshift variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant |
|
rs1591677254 |
A>- |
Pathogenic |
Frameshift variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant |
|
rs1591684268 |
G>A |
Likely-pathogenic |
Intron variant, genic downstream transcript variant, splice acceptor variant |
|
rs1591684337 |
C>G |
Pathogenic |
Intron variant, genic downstream transcript variant, coding sequence variant, stop gained |
|
rs1591685276 |
GCTTC>- |
Pathogenic |
Intron variant, frameshift variant, genic downstream transcript variant, coding sequence variant |
|
rs1591693095 |
G>A |
Likely-pathogenic |
Missense variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant |
|
rs1591701799 |
G>A |
Likely-pathogenic |
Genic downstream transcript variant, splice acceptor variant |
|
rs1591702340 |
A>- |
Pathogenic |
Frameshift variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant |
|
rs1591702700 |
AGAA>- |
Pathogenic |
Frameshift variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant |
|
rs1591702911 |
->A |
Pathogenic |
Genic downstream transcript variant, coding sequence variant, stop gained, non coding transcript variant |
|
rs1591702951 |
A>- |
Pathogenic |
Frameshift variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant |
|
rs1591708568 |
TGA>GT |
Pathogenic |
Frameshift variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant |
|
rs1591709001 |
CTATCTAC>- |
Pathogenic |
Frameshift variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant |
|
rs1591712447 |
->A |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant, genic downstream transcript variant, 3 prime UTR variant |
|
rs1591712726 |
->GACAGTGGAGGCACAAAATGTGAAATTCTTCA |
Pathogenic |
Downstream transcript variant, frameshift variant, coding sequence variant, non coding transcript variant, genic downstream transcript variant |
|
rs1591713093 |
T>G |
Likely-pathogenic |
Splice donor variant, downstream transcript variant, genic downstream transcript variant |
|
rs1591717467 |
A>- |
Pathogenic |
Frameshift variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant |
|
rs1591718522 |
ACAACCCC>- |
Pathogenic |
Frameshift variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant |
|
rs1591731851 |
T>- |
Pathogenic |
Frameshift variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant |
|
rs1591732123 |
AGAA>- |
Pathogenic |
Frameshift variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant |
|
rs1591732424 |
AAAGA>- |
Pathogenic |
Frameshift variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant |
|
