| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.6301815G>A | CA321852 | WFS1 | c.2056G>A (p.Gly686Arg) c.1997G>A c.2020G>A (p.Gly674Arg) c.1771G>A (p.Gly591Arg) c.1679G>A (n.1679G>A) n.2205G>A c.2029G>A (p.Gly677Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6301815G>C | CA2839574 | WFS1 | c.2056G>C (p.Gly686Arg) c.1997G>C c.2020G>C (p.Gly674Arg) c.1771G>C (p.Gly591Arg) c.1679G>C (n.1679G>C) n.2205G>C c.2029G>C (p.Gly677Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |