| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.16150225T>A | CA278675040 | ABCC6 | c.*592A>T (n.*592A>T) c.4420A>T (p.Lys1474Ter) c.1234A>T (p.Lys412Ter) c.4045A>T (n.4045A>T) n.1283A>T c.*1629A>T (n.*1629A>T) c.4387A>T (p.Lys1463Ter) c.4078A>T (p.Lys1360Ter) n.538+5935T>A n.4082A>T c.4252A>T (p.Lys1418Ter) c.4456A>T (p.Lys1486Ter) | ClinVar dbSNP |
| 16 | g.16150225T= | CA2210134140 | ABCC6 | c.*592A= (n.*592A=) c.4420A= (p.Lys1474=) c.1234A= (p.Lys412=) c.4045A= (n.4045A=) n.1283A= c.*1629A= (n.*1629A=) c.4387A= (p.Lys1463=) c.4078A= (p.Lys1360=) n.538+5935T= n.4082A= c.4252A= (p.Lys1418=) c.4456A= (p.Lys1486=) | dbSNP |