| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
| rs72659357 |
G>A |
Pathogenic |
Missense variant, initiator codon variant |
| rs72659359 |
G>A,C |
Pathogenic |
Splice donor variant |
| rs72659361 |
C>T |
Pathogenic |
Coding sequence variant, stop gained |
| rs72659362 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs115198029 |
C>T |
Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance |
Missense variant, coding sequence variant |
| rs137853939 |
C>A,T |
Pathogenic |
Stop gained, synonymous variant, coding sequence variant |
| rs137853943 |
C>A,G,T |
Pathogenic, pathogenic-likely-pathogenic, likely-pathogenic |
Splice donor variant |
| rs137853944 |
C>T |
Conflicting-interpretations-of-pathogenicity |
Stop gained, coding sequence variant |
| rs200576259 |
G>A |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, missense variant |
| rs387907333 |
GAGCTGATGCCGCTCG>TACCC |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs387907334 |
T>G |
Pathogenic |
Coding sequence variant, stop gained |
| rs768626850 |
GC>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs863225043 |
G>A,T |
Pathogenic |
Missense variant, stop gained, coding sequence variant |
| rs972668240 |
C>G |
Pathogenic |
Coding sequence variant, stop gained |