| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.6302287G>A | CA253203 | WFS1 | c.2528G>A (p.Gly843Asp) c.2469G>A c.2492G>A (p.Gly831Asp) c.2243G>A (p.Gly748Asp) n.2677G>A c.2501G>A (p.Gly834Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6302287G>C | CA320333 | WFS1 | c.2528G>C (p.Gly843Ala) c.2469G>C c.2492G>C (p.Gly831Ala) c.2243G>C (p.Gly748Ala) n.2677G>C c.2501G>C (p.Gly834Ala) | ClinVar dbSNP |
| 4 | g.6302287G= | CA1435772570 | WFS1 | c.2528G= (p.Gly843=) c.2469G= c.2492G= (p.Gly831=) c.2243G= (p.Gly748=) n.2677G= c.2501G= (p.Gly834=) | dbSNP |