| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.16150663del | CA278675301 | ABCC6 | c.*490del (n.*490del) c.4318del (p.Met1440CysfsTer24) c.1132del (p.Met378CysfsTer24) c.3943del (n.3943del) n.1181del c.*1527del (n.*1527del) c.4285del (p.Met1429CysfsTer24) c.3976del (p.Met1326CysfsTer24) n.538+6373del n.3980del c.4150del (p.Met1384CysfsTer24) c.4354del (p.Met1452CysfsTer24) | ClinVar dbSNP |
| 16 | g.16150663T= | CA3217477074 | ABCC6 | c.*490A= (n.*490A=) c.4318A= (p.Met1440=) c.1132A= (p.Met378=) c.3943A= (n.3943A=) n.1181A= c.*1527A= (n.*1527A=) c.4285A= (p.Met1429=) c.3976A= (p.Met1326=) n.538+6373T= n.3980A= c.4150A= (p.Met1384=) c.4354A= (p.Met1452=) | dbSNP |