| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.16177623G>C | CA394887855 | ABCC6 | c.2419C>G (p.Arg807Gly) c.2415+1175C>G (n.2415+1175C>G) c.2386C>G (p.Arg796Gly) c.2077C>G (p.Arg693Gly) n.2654C>G n.2655C>G n.2452+1175C>G c.2251C>G (p.Arg751Gly) c.2455C>G (p.Arg819Gly) n.2600C>G | ClinVar dbSNP |
| 16 | g.16177623G>A | CA7925919 | ABCC6 | c.2419C>T (p.Arg807Trp) c.2415+1175C>T (n.2415+1175C>T) c.2386C>T (p.Arg796Trp) c.2077C>T (p.Arg693Trp) n.2654C>T n.2655C>T n.2452+1175C>T c.2251C>T (p.Arg751Trp) c.2455C>T (p.Arg819Trp) n.2600C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |