| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.6301696A>C | CA253205 | WFS1 | c.1937A>C (p.Lys646Thr) c.1878A>C c.1901A>C (p.Lys634Thr) c.1652A>C (p.Lys551Thr) c.1560A>C (n.1560A>C) n.2086A>C c.1910A>C (p.Lys637Thr) | ClinVar dbSNP gnomAD v4 |
| 4 | g.6301696A>G | CA2839539 | WFS1 | c.1937A>G (p.Lys646Arg) c.1878A>G c.1901A>G (p.Lys634Arg) c.1652A>G (p.Lys551Arg) c.1560A>G (n.1560A>G) n.2086A>G c.1910A>G (p.Lys637Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |