| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
|
rs28937593 |
G>A |
Conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
|
rs121908616 |
T>C |
Pathogenic |
Missense variant, coding sequence variant |
|
rs121908617 |
C>A,T |
Pathogenic |
Synonymous variant, missense variant, coding sequence variant |
|
rs121908618 |
T>C |
Pathogenic |
Missense variant, coding sequence variant |
|
rs121908619 |
C>A,T |
Pathogenic |
Stop gained, synonymous variant, coding sequence variant |
|
rs121908620 |
T>C |
Pathogenic |
Missense variant, coding sequence variant |
|
rs267606732 |
C>A,T |
Pathogenic |
Coding sequence variant, stop gained, missense variant |
|
rs267606733 |
C>G,T |
Pathogenic |
Coding sequence variant, missense variant |
|
rs267606734 |
G>A |
Pathogenic |
Coding sequence variant, missense variant |
|
rs267606735 |
C>A,T |
Pathogenic |
Coding sequence variant, missense variant |
|
rs747171013 |
G>A,T |
Pathogenic |
Coding sequence variant, missense variant |
|
rs769540174 |
G>-,GG |
Likely-pathogenic, pathogenic |
Coding sequence variant, frameshift variant |
|
rs771866012 |
C>G,T |
Pathogenic |
Coding sequence variant, missense variant |
|
rs1057520111 |
C>A,T |
Likely-pathogenic, uncertain-significance |
Missense variant, coding sequence variant |
|
rs1316347883 |
G>A,C |
Pathogenic |
Coding sequence variant, missense variant |
|
rs1416783446 |
C>T |
Pathogenic |
Coding sequence variant, stop gained |
|
rs1554817549 |
C>G |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs1589509307 |
T>G |
Pathogenic |
Coding sequence variant, missense variant |
|
rs1589509884 |
G>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1589510055 |
GAA>- |
Pathogenic |
Inframe deletion, coding sequence variant |