| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
|
rs587776931 |
G>A |
Pathogenic |
Stop gained, coding sequence variant |
|
rs756062872 |
A>- |
Likely-pathogenic |
Frameshift variant, coding sequence variant |
|
rs761820222 |
G>A,T |
Pathogenic |
Stop gained, synonymous variant, coding sequence variant |
|
rs797045594 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs886037647 |
CT>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs886041621 |
G>A |
Not-provided, pathogenic |
Coding sequence variant, stop gained |
|
rs946006593 |
G>A,C |
Pathogenic |
Missense variant, coding sequence variant, stop gained |
|
rs1057518163 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1057518629 |
TCTT>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1057518674 |
G>A |
Pathogenic |
Stop gained, coding sequence variant |
|
rs1057520600 |
G>A |
Pathogenic |
Stop gained, coding sequence variant |
|
rs1057521041 |
C>A,T |
Likely-pathogenic, pathogenic |
Missense variant, coding sequence variant |
|
rs1057524308 |
G>A |
Pathogenic |
Stop gained, coding sequence variant |
|
rs1064793756 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1064793829 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1064794066 |
G>A |
Pathogenic |
Stop gained, coding sequence variant |
|
rs1064796622 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1131692164 |
->CATCA |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1131692165 |
CTTT>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1553187362 |
G>A |
Likely-pathogenic |
Coding sequence variant, stop gained |
|
rs1553187443 |
G>A |
Pathogenic |
Coding sequence variant, stop gained |
|
rs1553187446 |
C>A |
Pathogenic |
Coding sequence variant, stop gained |
|
rs1553187583 |
->C |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1553187606 |
T>C |
Pathogenic |
Splice acceptor variant |
|
rs1553188054 |
T>- |
Not-provided, pathogenic |
Frameshift variant, coding sequence variant |
|
rs1553188314 |
G>A |
Pathogenic |
Coding sequence variant, stop gained |
|
rs1553188335 |
G>A |
Pathogenic |
Coding sequence variant, stop gained |
|
rs1553188463 |
G>A |
Pathogenic |
Coding sequence variant, stop gained |
|
rs1553189680 |
A>C |
Pathogenic |
Splice donor variant |
|
rs1553189681 |
C>A,T |
Pathogenic |
Splice donor variant |
|
rs1553189700 |
GTGGGTAAC>CACCA |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1553189704 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1557781252 |
G>A |
Pathogenic |
Stop gained, coding sequence variant |
|
rs1570929072 |
ATAG>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1570929867 |
C>T |
Likely-pathogenic |
Splice donor variant |
|
rs1570929904 |
G>A |
Pathogenic |
Coding sequence variant, stop gained |
|
rs1570929919 |
GT>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1570937961 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1570938014 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1570938113 |
G>A |
Likely-pathogenic |
Coding sequence variant, stop gained |