| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.16150211del | CA278675030 | ABCC6 | c.*606del (n.*606del) c.4434del (p.Glu1479ArgfsTer?) c.1248del (p.Glu417ArgfsTer?) c.4059del (n.4059del) n.1297del c.*1643del (n.*1643del) c.4401del (p.Glu1468ArgfsTer?) c.4092del (p.Glu1365ArgfsTer?) n.538+5921del n.4096del c.4266del (p.Glu1423ArgfsTer?) c.4470del (p.Glu1491ArgfsTer?) | ClinVar dbSNP gnomAD v4 |
| 16 | g.16150211T= | CA2210134097 | ABCC6 | c.*606A= (n.*606A=) c.4434A= (p.Ala1478=) c.1248A= (p.Ala416=) c.4059A= (n.4059A=) n.1297A= c.*1643A= (n.*1643A=) c.4401A= (p.Ala1467=) c.4092A= (p.Ala1364=) n.538+5921T= n.4096A= c.4266A= (p.Ala1422=) c.4470A= (p.Ala1490=) | dbSNP dbSNP |