| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.16154915C>T | CA7925354 | ABCC6 | n.862G>A c.*171G>A (n.*171G>A) c.3999G>A (p.Val1333=) c.813G>A (p.Val271=) c.3624G>A (n.3624G>A) c.*1208G>A (n.*1208G>A) c.3966G>A (p.Val1322=) c.3657G>A (p.Val1219=) n.539-4866C>T n.3661G>A c.3831G>A (p.Val1277=) c.4035G>A (p.Val1345=) | ClinVar dbSNP ExAC gnomAD v4 |
| 16 | g.16154915C= | CA2210140911 | ABCC6 | n.862G= c.*171G= (n.*171G=) c.3999G= (p.Val1333=) c.813G= (p.Val271=) c.3624G= (n.3624G=) c.*1208G= (n.*1208G=) c.3966G= (p.Val1322=) c.3657G= (p.Val1219=) n.539-4866C= n.3661G= c.3831G= (p.Val1277=) c.4035G= (p.Val1345=) | dbSNP |