| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
| rs62638197 |
G>A |
Pathogenic, likely-pathogenic |
Coding sequence variant, missense variant |
| rs62638202 |
C>T |
Not-provided, pathogenic |
Coding sequence variant, missense variant |
| rs62638208 |
C>T |
Not-provided, pathogenic |
Coding sequence variant, missense variant |
| rs62638214 |
G>A |
Pathogenic |
Coding sequence variant, stop gained |
| rs62638619 |
C>A,T |
Benign, conflicting-interpretations-of-pathogenicity |
Coding sequence variant, synonymous variant |
| rs62638624 |
G>A,T |
Not-provided, pathogenic |
Coding sequence variant, stop gained, missense variant |
| rs62638625 |
C>T |
Not-provided, pathogenic |
Coding sequence variant, missense variant |
| rs79602188 |
C>T |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, missense variant |
| rs121434304 |
A>G,T |
Pathogenic, likely-pathogenic |
Coding sequence variant, missense variant |
| rs748979061 |
G>A |
Pathogenic |
Coding sequence variant, stop gained |
| rs756171835 |
G>A |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, synonymous variant |
| rs781463257 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1237461749 |
AGCGTCAGGCCGCCC>-,AGCGTCAGGCCGCCCAGCGTCAGGCCGCCC |
Likely-pathogenic |
Inframe deletion, coding sequence variant, inframe insertion |