| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.127428560G>A | CA114406 | PROC | c.1000G>A (p.Gly334Ser) c.324G>A c.1102G>A (p.Gly368Ser) c.1183G>A (p.Gly395Ser) c.1165G>A (p.Gly389Ser) c.1063G>A (p.Gly355Ser) n.1332-296C>T c.1243G>A (p.Gly415Ser) c.1345G>A (p.Gly449Ser) c.1285G>A (p.Gly429Ser) n.3607-296C>T n.4043-296C>T c.1168G>A (p.Gly390Ser) c.1186G>A (p.Gly396Ser) c.943G>A (p.Gly315Ser) c.976G>A (p.Gly326Ser) c.994G>A (p.Gly332Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.127428560G>T | CA348405334 | PROC | c.1000G>T (p.Gly334Cys) c.324G>T c.1102G>T (p.Gly368Cys) c.1183G>T (p.Gly395Cys) c.1165G>T (p.Gly389Cys) c.1063G>T (p.Gly355Cys) n.1332-296C>A c.1243G>T (p.Gly415Cys) c.1345G>T (p.Gly449Cys) c.1285G>T (p.Gly429Cys) n.3607-296C>A n.4043-296C>A c.1168G>T (p.Gly390Cys) c.1186G>T (p.Gly396Cys) c.943G>T (p.Gly315Cys) c.976G>T (p.Gly326Cys) c.994G>T (p.Gly332Cys) | ClinVar dbSNP gnomAD v2 |
| 2 | g.127428560G>C | CA348405332 | PROC | c.1000G>C (p.Gly334Arg) c.324G>C c.1102G>C (p.Gly368Arg) c.1183G>C (p.Gly395Arg) c.1165G>C (p.Gly389Arg) c.1063G>C (p.Gly355Arg) n.1332-296C>G c.1243G>C (p.Gly415Arg) c.1345G>C (p.Gly449Arg) c.1285G>C (p.Gly429Arg) n.3607-296C>G n.4043-296C>G c.1168G>C (p.Gly390Arg) c.1186G>C (p.Gly396Arg) c.943G>C (p.Gly315Arg) c.976G>C (p.Gly326Arg) c.994G>C (p.Gly332Arg) | dbSNP |