| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.127428485G>A | CA114396 | PROC | c.925G>A (p.Ala309Thr) c.249G>A c.1027G>A (p.Ala343Thr) c.1108G>A (p.Ala370Thr) c.1090G>A (p.Ala364Thr) c.988G>A (p.Ala330Thr) n.1332-221C>T c.1168G>A (p.Ala390Thr) c.1270G>A (p.Ala424Thr) c.1210G>A (p.Ala404Thr) n.3607-221C>T n.4043-221C>T c.1093G>A (p.Ala365Thr) c.1111G>A (p.Ala371Thr) c.868G>A (p.Ala290Thr) c.901G>A (p.Ala301Thr) c.919G>A (p.Ala307Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.127428485G= | CA1286884496 | PROC | c.925G= (p.Ala309=) c.249G= c.1027G= (p.Ala343=) c.1108G= (p.Ala370=) c.1090G= (p.Ala364=) c.988G= (p.Ala330=) n.1332-221C= c.1168G= (p.Ala390=) c.1270G= (p.Ala424=) c.1210G= (p.Ala404=) n.3607-221C= n.4043-221C= c.1093G= (p.Ala365=) c.1111G= (p.Ala371=) c.868G= (p.Ala290=) c.901G= (p.Ala301=) c.919G= (p.Ala307=) | dbSNP |
| 2 | g.127428485G>C | CA348404879 | PROC | c.925G>C (p.Ala309Pro) c.249G>C c.1027G>C (p.Ala343Pro) c.1108G>C (p.Ala370Pro) c.1090G>C (p.Ala364Pro) c.988G>C (p.Ala330Pro) n.1332-221C>G c.1168G>C (p.Ala390Pro) c.1270G>C (p.Ala424Pro) c.1210G>C (p.Ala404Pro) n.3607-221C>G n.4043-221C>G c.1093G>C (p.Ala365Pro) c.1111G>C (p.Ala371Pro) c.868G>C (p.Ala290Pro) c.901G>C (p.Ala301Pro) c.919G>C (p.Ala307Pro) | dbSNP gnomAD v4 |