| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
|
rs121918103 |
G>A |
Pathogenic, likely-pathogenic |
Missense variant, coding sequence variant |
|
rs121918104 |
C>G |
Pathogenic |
Missense variant, coding sequence variant |
|
rs121918105 |
C>A |
Pathogenic |
Missense variant, coding sequence variant |
|
rs121918106 |
T>A,C |
Pathogenic |
Missense variant, initiator codon variant |
|
rs121918107 |
T>G |
Pathogenic |
Missense variant, coding sequence variant |
|
rs121918108 |
A>C |
Pathogenic |
Missense variant, coding sequence variant |
|
rs121918109 |
G>A |
Pathogenic |
Stop gained, coding sequence variant |
|
rs121918110 |
A>G |
Pathogenic |
Missense variant, coding sequence variant |
|
rs150177878 |
A>G |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, synonymous variant |
|
rs200319381 |
A>C |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, missense variant |
|
rs377027316 |
G>A,C,T |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, missense variant |
|
rs558427025 |
C>T |
Conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
|
rs574280149 |
G>A,C |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, missense variant |
|
rs757687480 |
AAC>- |
Pathogenic |
Inframe deletion, coding sequence variant |
|
rs1431844269 |
CTT>- |
Likely-pathogenic |
Inframe deletion, coding sequence variant |
|
rs1554879741 |
C>A |
Pathogenic |
Stop gained, coding sequence variant |
|
rs1554879785 |
C>- |
Likely-pathogenic |
Frameshift variant, coding sequence variant |
|
rs1554880848 |
G>A |
Pathogenic |
Stop gained, coding sequence variant |
|
rs1564815053 |
A>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1589446748 |
T>C |
Pathogenic |
Splice acceptor variant |
|
rs1589448124 |
CT>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1589451049 |
C>A |
Pathogenic |
Splice acceptor variant |
|
rs1589451050 |
T>C |
Pathogenic |
Splice acceptor variant |