| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.20348652A>G | CA256240 | UMOD | c.649T>C (p.Cys217Arg) c.748T>C (p.Cys250Arg) c.796T>C (p.Cys266Arg) c.733T>C (p.Cys245Arg) n.874T>C | ClinVar dbSNP gnomAD v4 |
| 16 | g.20348652A>C | CA261112 | UMOD | c.649T>G (p.Cys217Gly) c.748T>G (p.Cys250Gly) c.796T>G (p.Cys266Gly) c.733T>G (p.Cys245Gly) n.874T>G | ClinVar dbSNP |