| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
|
rs104894931 |
T>C |
Pathogenic |
Coding sequence variant, missense variant |
|
rs104894936 |
C>A,T |
Pathogenic, likely-pathogenic |
Coding sequence variant, missense variant |
|
rs104894938 |
T>C,G |
Pathogenic, uncertain-significance |
Coding sequence variant, missense variant |
|
rs104894939 |
T>G |
Pathogenic |
Coding sequence variant, missense variant |
|
rs104894940 |
C>A |
Pathogenic |
Coding sequence variant, stop gained |
|
rs113994164 |
TTC>- |
Pathogenic |
Coding sequence variant, inframe deletion |
|
rs113994166 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs122455132 |
T>C |
Pathogenic |
Coding sequence variant, missense variant |
|
rs199904356 |
C>T |
Conflicting-interpretations-of-pathogenicity, benign, likely-benign |
Synonymous variant, coding sequence variant |
|
rs367543059 |
T>C |
Pathogenic |
Missense variant, coding sequence variant |
|
rs387906501 |
TCT>- |
Likely-pathogenic |
Inframe deletion, coding sequence variant |
|
rs398124231 |
A>G |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs587784382 |
C>T |
Pathogenic |
Stop gained, coding sequence variant |
|
rs587784383 |
G>A |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs587784384 |
C>T |
Likely-pathogenic, pathogenic |
Missense variant, coding sequence variant |
|
rs759410438 |
C>A,T |
Pathogenic |
Missense variant, coding sequence variant |
|
rs766773277 |
C>A,T |
Pathogenic |
Coding sequence variant, synonymous variant, stop gained |
|
rs797045962 |
->C |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs797045963 |
GTAATCCT>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs886042238 |
G>A |
Pathogenic |
Splice acceptor variant |
|
rs1163109289 |
G>A |
Likely-pathogenic |
Coding sequence variant, missense variant |
|
rs1363308293 |
C>T |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs1555989364 |
G>A |
Pathogenic |
Stop gained, coding sequence variant |
|
rs1555989375 |
G>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1555989715 |
C>A |
Pathogenic |
Missense variant, coding sequence variant |
|
rs1555989729 |
G>T |
Pathogenic |
Splice donor variant |
|
rs1555989846 |
AGTG>- |
Pathogenic |
Intron variant, splice donor variant |
|
rs1602140936 |
G>A |
Pathogenic |
Coding sequence variant, missense variant |
|
rs1602143383 |
G>T |
Pathogenic |
Coding sequence variant, missense variant |
|
rs1602143432 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1602144059 |
T>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant |