| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.6301111T>C | CA356174663 | WFS1 | c.1352T>C (p.Phe451Ser) c.1293T>C c.1316T>C (p.Phe439Ser) c.1067T>C (p.Phe356Ser) c.975T>C (p.Leu325=) n.1501T>C c.1325T>C (p.Phe442Ser) | dbSNP gnomAD v4 |
| 4 | g.6301111T>G | CA324094 | WFS1 | c.1352T>G (p.Phe451Cys) c.1293T>G c.1316T>G (p.Phe439Cys) c.1067T>G (p.Phe356Cys) c.975T>G (p.Leu325=) n.1501T>G c.1325T>G (p.Phe442Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6301111T= | CA1435772717 | WFS1 | c.1352T= (p.Phe451=) c.1293T= c.1316T= (p.Phe439=) c.1067T= (p.Phe356=) c.975T= (p.Leu325=) n.1501T= c.1325T= (p.Phe442=) | dbSNP |
| 4 | g.6301111T>A | CA356174664 | WFS1 | c.1352T>A (p.Phe451Tyr) c.1293T>A c.1316T>A (p.Phe439Tyr) c.1067T>A (p.Phe356Tyr) c.975T>A (p.Leu325=) n.1501T>A c.1325T>A (p.Phe442Tyr) | ClinVar dbSNP |