| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.20348298A>C | CA256252 | UMOD | c.898T>G (p.Cys300Gly) c.997T>G (p.Cys333Gly) c.1045T>G (p.Cys349Gly) c.982T>G (p.Cys328Gly) n.1123T>G | ClinVar dbSNP |
| 16 | g.20348298A>T | CA394983878 | UMOD | c.898T>A (p.Cys300Ser) c.997T>A (p.Cys333Ser) c.1045T>A (p.Cys349Ser) c.982T>A (p.Cys328Ser) n.1123T>A | ClinVar dbSNP |