| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.16154878G>A | CA278625320 | ABCC6 | n.899C>T c.*208C>T (n.*208C>T) c.4036C>T (p.Pro1346Ser) c.850C>T (p.Pro284Ser) c.3661C>T (n.3661C>T) c.*1245C>T (n.*1245C>T) c.4003C>T (p.Pro1335Ser) c.3694C>T (p.Pro1232Ser) n.539-4903G>A n.3698C>T c.3868C>T (p.Pro1290Ser) c.4072C>T (p.Pro1358Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.16154878G= | CA2210140824 | ABCC6 | n.899C= c.*208C= (n.*208C=) c.4036C= (p.Pro1346=) c.850C= (p.Pro284=) c.3661C= (n.3661C=) c.*1245C= (n.*1245C=) c.4003C= (p.Pro1335=) c.3694C= (p.Pro1232=) n.539-4903G= n.3698C= c.3868C= (p.Pro1290=) c.4072C= (p.Pro1358=) | dbSNP |