| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
| rs61732609 |
G>A |
Pathogenic |
Stop gained, coding sequence variant |
| rs121965006 |
A>G |
Pathogenic |
Coding sequence variant, missense variant |
| rs121965007 |
C>G,T |
Pathogenic |
Coding sequence variant, missense variant |
| rs121965008 |
A>G |
Pathogenic |
Coding sequence variant, missense variant |
| rs121965009 |
C>T |
Pathogenic |
Coding sequence variant, missense variant |
| rs121965010 |
G>A |
Pathogenic |
Coding sequence variant, stop gained |
| rs121965011 |
A>G |
Pathogenic |
Coding sequence variant, missense variant |
| rs121965012 |
AAG>- |
Pathogenic |
Inframe deletion, coding sequence variant |
| rs121965013 |
A>C,G |
Pathogenic |
Coding sequence variant, missense variant |
| rs121965014 |
G>A |
Pathogenic |
Coding sequence variant, stop gained |
| rs121965015 |
C>T |
Pathogenic |
Coding sequence variant, missense variant |
| rs121965016 |
C>T |
Pathogenic |
Coding sequence variant, missense variant |
| rs121965017 |
CTC>- |
Pathogenic |
Inframe deletion, coding sequence variant |
| rs121965018 |
T>C |
Pathogenic |
Coding sequence variant, missense variant |
| rs144071404 |
C>T |
Pathogenic |
Coding sequence variant, missense variant |
| rs200872504 |
C>G,T |
Likely-benign, pathogenic |
Intron variant |
| rs530251354 |
C>G,T |
Likely-pathogenic |
Missense variant, coding sequence variant |
| rs772310694 |
G>A |
Uncertain-significance, pathogenic |
Missense variant, coding sequence variant |
| rs777361441 |
G>C |
Pathogenic |
Missense variant, coding sequence variant |
| rs794728011 |
C>A |
Pathogenic |
Splice acceptor variant |
| rs794728012 |
TCA>- |
Pathogenic |
Inframe deletion, coding sequence variant |
| rs794728013 |
T>G |
Pathogenic |
Splice acceptor variant |
| rs1210302322 |
G>A,C |
Pathogenic |
Stop gained, coding sequence variant, missense variant |
| rs1299251737 |
C>A,T |
Pathogenic |
Coding sequence variant, missense variant |
| rs1601938489 |
A>G |
Pathogenic |
Splice donor variant |
| rs1601943088 |
T>G |
Pathogenic |
Missense variant, coding sequence variant |