| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.16150144C>A | CA7925150 | ABCC6 | c.*673G>T (n.*673G>T) c.4501G>T (p.Gly1501Cys) c.1315G>T (p.Gly439Cys) c.4126G>T (n.4126G>T) n.1364G>T c.*1710G>T (n.*1710G>T) c.4468G>T (p.Gly1490Cys) c.4159G>T (p.Gly1387Cys) n.538+5854C>A n.4163G>T c.4333G>T (p.Gly1445Cys) c.4537G>T (p.Gly1513Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.16150144C>T | CA278674989 | ABCC6 | c.*673G>A (n.*673G>A) c.4501G>A (p.Gly1501Ser) c.1315G>A (p.Gly439Ser) c.4126G>A (n.4126G>A) n.1364G>A c.*1710G>A (n.*1710G>A) c.4468G>A (p.Gly1490Ser) c.4159G>A (p.Gly1387Ser) n.538+5854C>T n.4163G>A c.4333G>A (p.Gly1445Ser) c.4537G>A (p.Gly1513Ser) | ClinVar dbSNP |