| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.127427219C>T | CA114419 | PROC | c.793C>T (p.Leu265Phe) c.121-1138C>T c.895C>T (p.Leu299Phe) c.976C>T (p.Leu326Phe) c.958C>T (p.Leu320Phe) c.856C>T (p.Leu286Phe) n.1486-831G>A c.1036C>T (p.Leu346Phe) c.1138C>T (p.Leu380Phe) c.1078C>T (p.Leu360Phe) n.4197-831G>A c.961C>T (p.Leu321Phe) c.979C>T (p.Leu327Phe) c.736C>T (p.Leu246Phe) c.769C>T (p.Leu257Phe) c.787C>T (p.Leu263Phe) | ClinVar dbSNP gnomAD v4 |
| 2 | g.127427219C= | CA1286883888 | PROC | c.793C= (p.Leu265=) c.121-1138C= c.895C= (p.Leu299=) c.976C= (p.Leu326=) c.958C= (p.Leu320=) c.856C= (p.Leu286=) n.1486-831G= c.1036C= (p.Leu346=) c.1138C= (p.Leu380=) c.1078C= (p.Leu360=) n.4197-831G= c.961C= (p.Leu321=) c.979C= (p.Leu327=) c.736C= (p.Leu246=) c.769C= (p.Leu257=) c.787C= (p.Leu263=) | dbSNP |