| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.6301941G>A | CA253197 | WFS1 | c.2182G>A (p.Ala728Thr) c.2123G>A c.2146G>A (p.Ala716Thr) c.1897G>A (p.Ala633Thr) c.1805G>A (n.1805G>A) n.2331G>A c.2155G>A (p.Ala719Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.6301941G>C | CA356177886 | WFS1 | c.2182G>C (p.Ala728Pro) c.2123G>C c.2146G>C (p.Ala716Pro) c.1897G>C (p.Ala633Pro) c.1805G>C (n.1805G>C) n.2331G>C c.2155G>C (p.Ala719Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6301941G= | CA1435772089 | WFS1 | c.2182G= (p.Ala728=) c.2123G= c.2146G= (p.Ala716=) c.1897G= (p.Ala633=) c.1805G= (n.1805G=) n.2331G= c.2155G= (p.Ala719=) | dbSNP |