| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.6301681G>A | CA261748 | WFS1 | c.1922G>A (p.Arg641Gln) c.1863G>A c.1886G>A (p.Arg629Gln) c.1637G>A (p.Arg546Gln) c.1545G>A (n.1545G>A) n.2071G>A c.1895G>A (p.Arg632Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6301681G= | CA1435771649 | WFS1 | c.1922G= (p.Arg641=) c.1863G= c.1886G= (p.Arg629=) c.1637G= (p.Arg546=) c.1545G= (n.1545G=) n.2071G= c.1895G= (p.Arg632=) | dbSNP |