| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
|
rs28940892 |
T>C |
Pathogenic |
Coding sequence variant, missense variant |
|
rs104894656 |
G>A,C |
Pathogenic |
Coding sequence variant, missense variant, synonymous variant |
|
rs104894657 |
G>A |
Pathogenic |
Coding sequence variant, missense variant |
|
rs104894658 |
C>A |
Pathogenic |
Coding sequence variant, missense variant |
|
rs104894659 |
G>A,T |
Pathogenic |
Stop gained, coding sequence variant, synonymous variant |
|
rs104894660 |
G>A,T |
Pathogenic |
Coding sequence variant, missense variant, synonymous variant |
|
rs104894661 |
C>T |
Pathogenic |
Coding sequence variant, missense variant |
|
rs104894662 |
C>A,G,T |
Pathogenic |
Coding sequence variant, missense variant |
|
rs139218324 |
G>A,T |
Pathogenic |
Missense variant, coding sequence variant |
|
rs199950178 |
C>A,T |
Pathogenic |
Missense variant, coding sequence variant |
|
rs267607231 |
C>A,T |
Pathogenic |
Missense variant, coding sequence variant |
|
rs758709668 |
C>A,T |
Likely-pathogenic |
Coding sequence variant, missense variant |
|
rs762692123 |
G>A,T |
Pathogenic |
Synonymous variant, stop gained, coding sequence variant |
|
rs886041294 |
ACA>- |
Pathogenic |
Coding sequence variant, stop gained, inframe indel |
|
rs1208417750 |
C>G,T |
Pathogenic |
Coding sequence variant, missense variant |
|
rs1226345778 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1555619372 |
G>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1555619377 |
A>C |
Pathogenic |
Missense variant, coding sequence variant |
|
rs1555619406 |
A>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1555619429 |
C>G |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs1555619430 |
->G |
Pathogenic |
Frameshift variant, coding sequence variant |
|