| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.127428540A>T | CA55350850 | PROC | c.980A>T (p.Glu327Val) c.304A>T c.1082A>T (p.Glu361Val) c.1163A>T (p.Glu388Val) c.1145A>T (p.Glu382Val) c.1043A>T (p.Glu348Val) n.1332-276T>A c.1223A>T (p.Glu408Val) c.1325A>T (p.Glu442Val) c.1265A>T (p.Glu422Val) n.3607-276T>A n.4043-276T>A c.1148A>T (p.Glu383Val) c.1166A>T (p.Glu389Val) c.923A>T (p.Glu308Val) c.956A>T (p.Glu319Val) c.974A>T (p.Glu325Val) | ClinVar dbSNP gnomAD v4 |
| 2 | g.127428540A= | CA1286884517 | PROC | c.980A= (p.Glu327=) c.304A= c.1082A= (p.Glu361=) c.1163A= (p.Glu388=) c.1145A= (p.Glu382=) c.1043A= (p.Glu348=) n.1332-276T= c.1223A= (p.Glu408=) c.1325A= (p.Glu442=) c.1265A= (p.Glu422=) n.3607-276T= n.4043-276T= c.1148A= (p.Glu383=) c.1166A= (p.Glu389=) c.923A= (p.Glu308=) c.956A= (p.Glu319=) c.974A= (p.Glu325=) | dbSNP |