| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.6301467C>T | CA275434 | WFS1 | c.1708C>T (p.Arg570Cys) c.1649C>T c.1672C>T (p.Arg558Cys) c.1423C>T (p.Arg475Cys) c.1331C>T (n.1331C>T) n.1857C>T c.1681C>T (p.Arg561Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 4 | g.6301467C>A | CA2839439 | WFS1 | c.1708C>A (p.Arg570Ser) c.1649C>A c.1672C>A (p.Arg558Ser) c.1423C>A (p.Arg475Ser) c.1331C>A (n.1331C>A) n.1857C>A c.1681C>A (p.Arg561Ser) | dbSNP ExAC gnomAD v2 |
| 4 | g.6301467C= | CA1435773637 | WFS1 | c.1708C= (p.Arg570=) c.1649C= c.1672C= (p.Arg558=) c.1423C= (p.Arg475=) c.1331C= (n.1331C=) n.1857C= c.1681C= (p.Arg561=) | dbSNP |