Variant ID |
Alleles |
Global MAF |
Clin. Sig. |
Conseq. Type |
AA coord |
sift_class |
polyphen_class |
rs121917742 |
C/T |
- |
pathogenic |
missense variant |
230 |
deleterious |
possibly damaging |
rs397514691 |
G/T |
- |
pathogenic |
missense variant |
135 |
deleterious | possibly damaging |
rs1558245626 |
A/T |
- |
likely pathogenic |
missense variant |
39 |
deleterious |
possibly damaging |
rs121917743 |
A/C/T |
0.001 |
likely pathogenic |
missense variant |
16 |
deleterious |
probably damaging |
rs121917743 |
A/C/T |
- |
likely pathogenic |
missense variant |
16 |
deleterious |
possibly damaging |
rs121917742 |
C/T |
- |
pathogenic |
missense variant |
192 |
deleterious |
possibly damaging |
rs397514691 |
G/T |
- |
pathogenic |
missense variant |
97 |
deleterious |
possibly damaging |