| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.16182414G>A | CA278647831 | ABCC6 | c.2245C>T (p.Gln749Ter) n.2040-489C>T c.1903C>T (p.Gln635Ter) n.2480C>T n.2481C>T n.2282C>T c.2281C>T (p.Gln761Ter) n.2426C>T | ClinVar dbSNP gnomAD v4 |
| 16 | g.16182414G>C | CA278647838 | ABCC6 | c.2245C>G (p.Gln749Glu) n.2040-489C>G c.1903C>G (p.Gln635Glu) n.2480C>G n.2481C>G n.2282C>G c.2281C>G (p.Gln761Glu) n.2426C>G | dbSNP gnomAD v4 |