| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.20349071C>G | CA394987202 | UMOD | c.230G>C (p.Cys77Ser) c.329G>C (p.Cys110Ser) c.377G>C (p.Cys126Ser) c.299G>C (p.Cys100Ser) c.392G>C (p.Cys131Ser) c.314G>C (p.Cys105Ser) n.455G>C | ClinVar dbSNP |
| 16 | g.20349071C>T | CA256244 | UMOD | c.230G>A (p.Cys77Tyr) c.329G>A (p.Cys110Tyr) c.377G>A (p.Cys126Tyr) c.299G>A (p.Cys100Tyr) c.392G>A (p.Cys131Tyr) c.314G>A (p.Cys105Tyr) n.455G>A | ClinVar dbSNP |