| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
|
rs137852901 |
T>A,C |
Pathogenic |
Missense variant, coding sequence variant |
|
rs137852902 |
C>T |
Pathogenic |
Missense variant, coding sequence variant |
|
rs137852903 |
A>C |
Pathogenic |
Missense variant, coding sequence variant |
|
rs137852904 |
C>A,T |
Pathogenic |
Stop gained, coding sequence variant, missense variant |
|
rs137852905 |
A>G |
Pathogenic |
Missense variant, coding sequence variant |
|
rs312262690 |
->G,GG |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs312262693 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs546102223 |
C>T |
Pathogenic |
Coding sequence variant, synonymous variant |
|
rs797045028 |
G>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs797045029 |
A>G |
Likely-pathogenic |
Coding sequence variant, missense variant |
|
rs886039907 |
C>T |
Likely-pathogenic |
Coding sequence variant, missense variant |
|
rs886041401 |
A>C,G |
Pathogenic, likely-pathogenic |
Coding sequence variant, intron variant, missense variant |
|
rs1057521726 |
C>A,T |
Likely-pathogenic |
Coding sequence variant, missense variant |
|
rs1553933367 |
->T |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1560998734 |
ACATTCTGTGGCTGTGACAATTAATGATCCTGAAATGACAGATTTTCCTCCATTAAAGCTCACTGAAACATCAAGAGTT>- |
Likely-pathogenic |
Frameshift variant, coding sequence variant |
|
rs1578125066 |
->C |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
|
rs1578172709 |
->T |
Likely-pathogenic |
Coding sequence variant, stop gained |