| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
|
rs751610641 |
G>A,C |
Pathogenic |
Coding sequence variant, missense variant, stop gained |
|
rs777979354 |
->G |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs869312678 |
CA>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1208949378 |
G>A,C |
Pathogenic |
Stop gained, synonymous variant, coding sequence variant |
|
rs1555923508 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1555923822 |
->T |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1555924435 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1555925903 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1555926209 |
G>A |
Pathogenic |
Coding sequence variant, stop gained |
|
rs1555926655 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1569110700 |
G>A |
Pathogenic, likely-pathogenic |
Missense variant, coding sequence variant |
|
rs1569143903 |
G>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
|
rs1569144264 |
G>A |
Pathogenic |
Coding sequence variant, stop gained |
|
rs1569144348 |
CT>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1569146455 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1569146542 |
CT>- |
Pathogenic, likely-pathogenic |
Coding sequence variant, frameshift variant |
|
rs1569146649 |
->T |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1569146993 |
->C |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1569147202 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1569147315 |
->G |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1569149539 |
G>C |
Pathogenic |
Coding sequence variant, stop gained |
|
rs1569150452 |
G>A |
Pathogenic |
Coding sequence variant, stop gained |
|
rs1569150635 |
CA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1569150885 |
G>A |
Pathogenic |
Coding sequence variant, stop gained |
|
rs1569151204 |
CA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1569151886 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1569153066 |
G>A |
Pathogenic |
Coding sequence variant, stop gained |
|
rs1569153159 |
CT>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1569153915 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1569153986 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1569154591 |
->TGGG |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1601592351 |
G>A |
Pathogenic |
Coding sequence variant, stop gained |
|
rs1601593180 |
->ACCA |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1601597286 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1601598682 |
GTCA>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
|
rs1601602492 |
G>A |
Pathogenic |
Coding sequence variant, stop gained |
|
rs1601603552 |
->T |
Pathogenic |
Coding sequence variant, stop gained |