| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
|
rs111438719 |
T>C |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, missense variant |
|
rs113272276 |
T>C |
Conflicting-interpretations-of-pathogenicity |
Synonymous variant, coding sequence variant |
|
rs145356495 |
G>A |
Pathogenic |
Coding sequence variant, stop gained |
|
rs148092524 |
C>A,T |
Likely-pathogenic |
Splice donor variant |
|
rs748639083 |
AACA>- |
Pathogenic |
Frameshift variant, intron variant, coding sequence variant |
|
rs753545038 |
T>A,C |
Likely-pathogenic |
Splice acceptor variant |
|
rs758019788 |
C>T |
Pathogenic |
Splice donor variant, intron variant |
|
rs775517492 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs779488471 |
TGTT>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1057523690 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1172015222 |
C>T |
Likely-pathogenic |
Splice donor variant |
|
rs1316112168 |
C>G |
Pathogenic |
Splice acceptor variant |
|
rs1361739547 |
G>A,C |
Pathogenic |
Missense variant, coding sequence variant, stop gained |
|
rs1436090495 |
CAAA>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1553351355 |
G>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1553352792 |
A>C |
Pathogenic |
Stop gained, coding sequence variant |
|
rs1553354962 |
->T |
Pathogenic |
Frameshift variant, intron variant, coding sequence variant |
|
rs1558502635 |
GTTCTCCAACATTAGTGAGAATGTATAATTCATCATCTCTGTGTTCAACATAGTAAAGGACCCCATGTATTCGCT>TAAAA |
Pathogenic |
Frameshift variant, coding sequence variant |