Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
4 | g.6302133G>A | CA129330 | WFS1 | c.2374G>A (p.Gly792Ser) c.2315G>A c.2338G>A (p.Gly780Ser) c.2089G>A (p.Gly697Ser) c.1997G>A (n.1997G>A) n.2523G>A c.2347G>A (p.Gly783Ser) | ClinVar dbSNP |
4 | g.6302133G= | CA1435772376 | WFS1 | c.2374G= (p.Gly792=) c.2315G= c.2338G= (p.Gly780=) c.2089G= (p.Gly697=) c.1997G= (n.1997G=) n.2523G= c.2347G= (p.Gly783=) | dbSNP |