| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.16178871G>T | CA7925955 | ABCC6 | c.2342C>A (p.Ala781Glu) c.2000C>A (p.Ala667Glu) n.2577C>A n.2578C>A n.2379C>A c.2248-1245C>A (n.2248-1245C>A) c.2378C>A (p.Ala793Glu) n.2523C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.16178871G>A | CA7925956 | ABCC6 | c.2342C>T (p.Ala781Val) c.2000C>T (p.Ala667Val) n.2577C>T n.2578C>T n.2379C>T c.2248-1245C>T (n.2248-1245C>T) c.2378C>T (p.Ala793Val) n.2523C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |