| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.6300918C>A | CA2839224 | WFS1 | c.1159C>A (p.Arg387Ser) c.1100C>A c.1123C>A (p.Arg375Ser) c.874C>A (p.Arg292Ser) c.782C>A (p.Pro261Gln) n.1308C>A c.1132C>A (p.Arg378Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6300918C>T | CA320427 | WFS1 | c.1159C>T (p.Arg387Cys) c.1100C>T c.1123C>T (p.Arg375Cys) c.874C>T (p.Arg292Cys) c.782C>T (p.Pro261Leu) n.1308C>T c.1132C>T (p.Arg378Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |