| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.20348994C>G | CA394986659 | UMOD | c.307G>C (p.Gly103Arg) c.406G>C (p.Gly136Arg) c.454G>C (p.Gly152Arg) c.376G>C (p.Gly126Arg) c.469G>C (p.Gly157Arg) c.307G>C c.391G>C (p.Gly131Arg) n.532G>C | dbSNP gnomAD v4 |
| 16 | g.20348994C>T | CA279300127 | UMOD | c.307G>A (p.Gly103Ser) c.406G>A (p.Gly136Ser) c.454G>A (p.Gly152Ser) c.376G>A (p.Gly126Ser) c.469G>A (p.Gly157Ser) c.307G>A c.391G>A (p.Gly131Ser) n.532G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.20348994C>A | CA256242 | UMOD | c.307G>T (p.Gly103Cys) c.406G>T (p.Gly136Cys) c.454G>T (p.Gly152Cys) c.376G>T (p.Gly126Cys) c.469G>T (p.Gly157Cys) c.307G>T c.391G>T (p.Gly131Cys) n.532G>T | ClinVar dbSNP |