| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.16219578dup | CA129126 | ABCC6 | c.450dup (p.Ala151ArgfsTer?) n.546dup c.*317dup (n.*317dup) c.108dup (p.Ala37ArgfsTer?) n.685dup n.686dup n.487dup c.486dup (p.Ala163ArgfsTer?) n.631dup | ClinVar dbSNP |
| 16 | g.16219578G= | CA2210162559 | ABCC6 | c.450C= (p.Asn150=) n.546C= c.*317C= (n.*317C=) c.108C= (p.Asn36=) n.685C= n.686C= n.487C= c.486C= (p.Asn162=) n.631C= | dbSNP dbSNP |