| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
|
rs373421716 |
G>A,C |
Conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
|
rs761993070 |
C>A,G,T |
Pathogenic |
Missense variant, coding sequence variant, stop gained |
|
rs869312841 |
G>A |
Pathogenic |
Stop gained, coding sequence variant |
|
rs869312842 |
G>A |
Pathogenic |
Stop gained, coding sequence variant |
|
rs869312843 |
C>A |
Pathogenic |
Stop gained, coding sequence variant |
|
rs869312844 |
->C |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs869312847 |
C>A |
Not-provided, likely-pathogenic |
Coding sequence variant, missense variant |
|
rs878853251 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs878853269 |
G>A |
Pathogenic |
Stop gained, coding sequence variant |
|
rs1064795825 |
C>T |
Likely-pathogenic |
Coding sequence variant, missense variant |
|
rs1064796034 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1554274371 |
G>A |
Pathogenic |
Coding sequence variant, stop gained |
|
rs1554275163 |
G>A |
Pathogenic |
Coding sequence variant, stop gained |
|
rs1562493608 |
G>A |
Pathogenic |
Coding sequence variant, stop gained |
|
rs1562505335 |
G>A |
Pathogenic |
Coding sequence variant, stop gained |
|
rs1562505675 |
->TGACTGTCCATGTGCATGATCTGTGGCTGGGC |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1582831184 |
GT>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1582831406 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1582842042 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1582842733 |
->C |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
|
rs1582843150 |
CT>- |
Pathogenic |
Coding sequence variant, frameshift variant |