| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.16182878C>A | CA278648313 | ABCC6 | c.1996G>T (p.Gly666Trp) n.2040-953G>T c.1654G>T (p.Gly552Trp) n.2231G>T n.2232G>T n.2033G>T c.2032G>T (p.Gly678Trp) n.2177G>T | ClinVar dbSNP |
| 16 | g.16182878C= | CA2210149756 | ABCC6 | c.1996G= (p.Gly666=) n.2040-953G= c.1654G= (p.Gly552=) n.2231G= n.2232G= n.2033G= c.2032G= (p.Gly678=) n.2177G= | dbSNP |
| 16 | g.16182878C>T | CA394888750 | ABCC6 | c.1996G>A (p.Gly666Arg) n.2040-953G>A c.1654G>A (p.Gly552Arg) n.2231G>A n.2232G>A n.2033G>A c.2032G>A (p.Gly678Arg) n.2177G>A | dbSNP gnomAD v4 |