| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.16165841G>A | CA278633213 | ABCC6 | c.3088C>T (p.Arg1030Ter) c.103C>T (p.Arg35Ter) c.2913C>T (n.2913C>T) c.*297C>T (n.*297C>T) c.3055C>T (p.Arg1019Ter) c.2746C>T (p.Arg916Ter) n.3323C>T n.3324C>T n.2950C>T c.2920C>T (p.Arg974Ter) c.3124C>T (p.Arg1042Ter) n.3269C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.16165841G= | CA2210140179 | ABCC6 | c.3088C= (p.Arg1030=) c.103C= (p.Arg35=) c.2913C= (n.2913C=) c.*297C= (n.*297C=) c.3055C= (p.Arg1019=) c.2746C= (p.Arg916=) n.3323C= n.3324C= n.2950C= c.2920C= (p.Arg974=) c.3124C= (p.Arg1042=) n.3269C= | dbSNP |