| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.6291367G>A | CA320894 | WFS1 | c.631G>A (p.Asp211Asn) c.608+13G>A c.631G>A (p.Gly211Ser) c.382G>A (p.Asp128Asn) c.430G>A (p.Asp144Asn) c.228G>A n.816G>A c.640G>A (p.Asp214Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6291367G= | CA1435768648 | WFS1 | c.631G= (p.Asp211=) c.608+13G= c.631G= (p.Gly211=) c.382G= (p.Asp128=) c.430G= (p.Asp144=) c.228G= n.816G= c.640G= (p.Asp214=) | dbSNP |
| 4 | g.6291367G>C | CA356172185 | WFS1 | c.631G>C (p.Asp211His) c.608+13G>C c.631G>C (p.Gly211Arg) c.382G>C (p.Asp128His) c.430G>C (p.Asp144His) c.228G>C n.816G>C c.640G>C (p.Asp214His) | dbSNP gnomAD v4 |