| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.127426180C>A | CA1859401 | PROC | c.631C>A (p.Arg211=) c.121-2177C>A c.733C>A (p.Arg245=) n.217C>A c.814C>A (p.Arg272=) c.796C>A (p.Arg266=) c.694C>A (p.Arg232=) c.874C>A (p.Arg292=) c.976C>A (p.Arg326=) c.916C>A (p.Arg306=) n.4405G>T c.799C>A (p.Arg267=) c.817C>A (p.Arg273=) c.574C>A (p.Arg192=) c.607C>A (p.Arg203=) c.625C>A (p.Arg209=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.127426180C>T | CA114389 | PROC | c.631C>T (p.Arg211Trp) c.121-2177C>T c.733C>T (p.Arg245Trp) n.217C>T c.814C>T (p.Arg272Trp) c.796C>T (p.Arg266Trp) c.694C>T (p.Arg232Trp) c.874C>T (p.Arg292Trp) c.976C>T (p.Arg326Trp) c.916C>T (p.Arg306Trp) n.4405G>A c.799C>T (p.Arg267Trp) c.817C>T (p.Arg273Trp) c.574C>T (p.Arg192Trp) c.607C>T (p.Arg203Trp) c.625C>T (p.Arg209Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |