| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.16159549C>T | CA278628812 | ABCC6 | c.3668G>A (p.Trp1223Ter) c.482G>A (p.Trp161Ter) c.3293G>A (n.3293G>A) c.*877G>A (n.*877G>A) c.3635G>A (p.Trp1212Ter) c.3326G>A (p.Trp1109Ter) n.3903G>A n.3704G>A n.539-232C>T n.3330G>A c.3500G>A (p.Trp1167Ter) c.3704G>A (p.Trp1235Ter) n.3849G>A n.3649G>A | ClinVar dbSNP |
| 16 | g.16159549C= | CA2210131985 | ABCC6 | c.3668G= (p.Trp1223=) c.482G= (p.Trp161=) c.3293G= (n.3293G=) c.*877G= (n.*877G=) c.3635G= (p.Trp1212=) c.3326G= (p.Trp1109=) n.3903G= n.3704G= n.539-232C= n.3330G= c.3500G= (p.Trp1167=) c.3704G= (p.Trp1235=) n.3849G= n.3649G= | dbSNP |