| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.127426114C>T | CA211732 | PROC | c.565C>T (p.Arg189Trp) c.121-2243C>T c.667C>T (p.Arg223Trp) c.508C>T (p.Arg170Trp) n.151C>T c.748C>T (p.Arg250Trp) c.730C>T (p.Arg244Trp) c.628C>T (p.Arg210Trp) c.808C>T (p.Arg270Trp) c.910C>T (p.Arg304Trp) c.850C>T (p.Arg284Trp) n.4471G>A c.733C>T (p.Arg245Trp) c.751C>T (p.Arg251Trp) c.541C>T (p.Arg181Trp) c.559C>T (p.Arg187Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.127426114C= | CA1286883407 | PROC | c.565C= (p.Arg189=) c.121-2243C= c.667C= (p.Arg223=) c.508C= (p.Arg170=) n.151C= c.748C= (p.Arg250=) c.730C= (p.Arg244=) c.628C= (p.Arg210=) c.808C= (p.Arg270=) c.910C= (p.Arg304=) c.850C= (p.Arg284=) n.4471G= c.733C= (p.Arg245=) c.751C= (p.Arg251=) c.541C= (p.Arg181=) c.559C= (p.Arg187=) | dbSNP |