| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.127428602C>A | CA428872050 | PROC | c.1042C>A (p.Arg348=) c.366C>A c.1144C>A (p.Arg382=) c.1225C>A (p.Arg409=) c.1207C>A (p.Arg403=) c.1105C>A (p.Arg369=) n.1332-338G>T c.1285C>A (p.Arg429=) c.1387C>A (p.Arg463=) c.1327C>A (p.Arg443=) n.3607-338G>T n.4043-338G>T c.1210C>A (p.Arg404=) c.1228C>A (p.Arg410=) c.985C>A (p.Arg329=) c.1018C>A (p.Arg340=) c.1036C>A (p.Arg346=) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.127428602C>T | CA114384 | PROC | c.1042C>T (p.Arg348Ter) c.366C>T c.1144C>T (p.Arg382Ter) c.1225C>T (p.Arg409Ter) c.1207C>T (p.Arg403Ter) c.1105C>T (p.Arg369Ter) n.1332-338G>A c.1285C>T (p.Arg429Ter) c.1387C>T (p.Arg463Ter) c.1327C>T (p.Arg443Ter) n.3607-338G>A n.4043-338G>A c.1210C>T (p.Arg404Ter) c.1228C>T (p.Arg410Ter) c.985C>T (p.Arg329Ter) c.1018C>T (p.Arg340Ter) c.1036C>T (p.Arg346Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |