| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.6302385G>A | CA116903 | WFS1 | c.2626G>A (p.Glu876Lys) c.2567G>A c.2590G>A (p.Glu864Lys) c.2341G>A (p.Glu781Lys) n.2775G>A c.2599G>A (p.Glu867Lys) | ClinVar dbSNP |
| 4 | g.6302385G>T | CA356179358 | WFS1 | c.2626G>T (p.Glu876Ter) c.2567G>T c.2590G>T (p.Glu864Ter) c.2341G>T (p.Glu781Ter) n.2775G>T c.2599G>T (p.Glu867Ter) | dbSNP gnomAD v4 |
| 4 | g.6302385G= | CA1435772712 | WFS1 | c.2626G= (p.Glu876=) c.2567G= c.2590G= (p.Glu864=) c.2341G= (p.Glu781=) n.2775G= c.2599G= (p.Glu867=) | dbSNP |