| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.127428451C>T | CA1859483 | PROC | c.891C>T (p.Asp297=) c.215C>T c.993C>T (p.Asp331=) c.1074C>T (p.Asp358=) c.1056C>T (p.Asp352=) c.954C>T (p.Asp318=) n.1332-187G>A c.1134C>T (p.Asp378=) c.1236C>T (p.Asp412=) c.1176C>T (p.Asp392=) n.3607-187G>A n.4043-187G>A c.1059C>T (p.Asp353=) c.1077C>T (p.Asp359=) c.834C>T (p.Asp278=) c.867C>T (p.Asp289=) c.885C>T (p.Asp295=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.127428451C= | CA1286884481 | PROC | c.891C= (p.Asp297=) c.215C= c.993C= (p.Asp331=) c.1074C= (p.Asp358=) c.1056C= (p.Asp352=) c.954C= (p.Asp318=) n.1332-187G= c.1134C= (p.Asp378=) c.1236C= (p.Asp412=) c.1176C= (p.Asp392=) n.3607-187G= n.4043-187G= c.1059C= (p.Asp353=) c.1077C= (p.Asp359=) c.834C= (p.Asp278=) c.867C= (p.Asp289=) c.885C= (p.Asp295=) | dbSNP |