| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.127428374C>A | CA348404275 | PROC | c.814C>A (p.Arg272Ser) c.138C>A c.916C>A (p.Arg306Ser) c.997C>A (p.Arg333Ser) c.979C>A (p.Arg327Ser) c.877C>A (p.Arg293Ser) n.1332-110G>T c.1057C>A (p.Arg353Ser) c.1159C>A (p.Arg387Ser) c.1099C>A (p.Arg367Ser) n.3607-110G>T n.4043-110G>T c.982C>A (p.Arg328Ser) c.1000C>A (p.Arg334Ser) c.757C>A (p.Arg253Ser) c.790C>A (p.Arg264Ser) c.808C>A (p.Arg270Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.127428374C>T | CA114414 | PROC | c.814C>T (p.Arg272Cys) c.138C>T c.916C>T (p.Arg306Cys) c.997C>T (p.Arg333Cys) c.979C>T (p.Arg327Cys) c.877C>T (p.Arg293Cys) n.1332-110G>A c.1057C>T (p.Arg353Cys) c.1159C>T (p.Arg387Cys) c.1099C>T (p.Arg367Cys) n.3607-110G>A n.4043-110G>A c.982C>T (p.Arg328Cys) c.1000C>T (p.Arg334Cys) c.757C>T (p.Arg253Cys) c.790C>T (p.Arg264Cys) c.808C>T (p.Arg270Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |