| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.6301990G>C | CA356178075 | WFS1 | c.2231G>C (p.Arg744Pro) c.2172G>C c.2195G>C (p.Arg732Pro) c.1946G>C (p.Arg649Pro) c.1854G>C (n.1854G>C) n.2380G>C c.2204G>C (p.Arg735Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.6301990G>A | CA321654 | WFS1 | c.2231G>A (p.Arg744His) c.2172G>A c.2195G>A (p.Arg732His) c.1946G>A (p.Arg649His) c.1854G>A (n.1854G>A) n.2380G>A c.2204G>A (p.Arg735His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6301990G= | CA1435772168 | WFS1 | c.2231G= (p.Arg744=) c.2172G= c.2195G= (p.Arg732=) c.1946G= (p.Arg649=) c.1854G= (n.1854G=) n.2380G= c.2204G= (p.Arg735=) | dbSNP |
| 4 | g.6301990G>T | CA356178076 | WFS1 | c.2231G>T (p.Arg744Leu) c.2172G>T c.2195G>T (p.Arg732Leu) c.1946G>T (p.Arg649Leu) c.1854G>T (n.1854G>T) n.2380G>T c.2204G>T (p.Arg735Leu) | dbSNP gnomAD v4 |