| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.127428761G>A | CA211710 | PROC | c.1201G>A (p.Asp401Asn) c.525G>A c.1303G>A (p.Asp435Asn) c.1384G>A (p.Asp462Asn) c.1366G>A (p.Asp456Asn) c.1264G>A (p.Asp422Asn) n.1332-497C>T c.1444G>A (p.Asp482Asn) c.1546G>A (p.Asp516Asn) c.1486G>A (p.Asp496Asn) n.3607-497C>T n.4043-497C>T c.1369G>A (p.Asp457Asn) c.1387G>A (p.Asp463Asn) c.1144G>A (p.Asp382Asn) c.1177G>A (p.Asp393Asn) c.1195G>A (p.Asp399Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.127428761G= | CA1286884636 | PROC | c.1201G= (p.Asp401=) c.525G= c.1303G= (p.Asp435=) c.1384G= (p.Asp462=) c.1366G= (p.Asp456=) c.1264G= (p.Asp422=) n.1332-497C= c.1444G= (p.Asp482=) c.1546G= (p.Asp516=) c.1486G= (p.Asp496=) n.3607-497C= n.4043-497C= c.1369G= (p.Asp457=) c.1387G= (p.Asp463=) c.1144G= (p.Asp382=) c.1177G= (p.Asp393=) c.1195G= (p.Asp399=) | dbSNP |