| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.127421381C>T | CA334388 | PROC | c.169C>T (p.Arg57Trp) c.134C>T (p.Ala45Val) n.252C>T c.352C>T (p.Arg118Trp) c.232C>T (p.Arg78Trp) c.412C>T (p.Arg138Trp) c.253C>T (p.Arg85Trp) c.145C>T (p.Arg49Trp) c.163C>T (p.Arg55Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.127421381C>A | CA428617437 | PROC | c.169C>A (p.Arg57=) c.134C>A (p.Ala45Glu) n.252C>A c.352C>A (p.Arg118=) c.232C>A (p.Arg78=) c.412C>A (p.Arg138=) c.253C>A (p.Arg85=) c.145C>A (p.Arg49=) c.163C>A (p.Arg55=) | dbSNP gnomAD v4 |
| 2 | g.127421381C= | CA1286880865 | PROC | c.169C= (p.Arg57=) c.134C= (p.Ala45=) n.252C= c.352C= (p.Arg118=) c.232C= (p.Arg78=) c.412C= (p.Arg138=) c.253C= (p.Arg85=) c.145C= (p.Arg49=) c.163C= (p.Arg55=) | dbSNP |