Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
4 | g.6302281T>C | CA253199 | WFS1 | c.2522T>C (p.Leu841Pro) c.2463T>C c.2486T>C (p.Leu829Pro) c.2237T>C (p.Leu746Pro) n.2671T>C c.2495T>C (p.Leu832Pro) | ClinVar dbSNP |
4 | g.6302281T= | CA1435772567 | WFS1 | c.2522T= (p.Leu841=) c.2463T= c.2486T= (p.Leu829=) c.2237T= (p.Leu746=) n.2671T= c.2495T= (p.Leu832=) | dbSNP |