Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.85958881G>A | CA10603696 | CHM | c.799C>T (p.Arg267Ter) n.126+68610C>T c.736C>T (p.Arg246Ter) c.355C>T (p.Arg119Ter) | ClinVar dbSNP |
X | g.85958881G>T | CA517491204 | CHM | c.799C>A (p.Arg267=) n.126+68610C>A c.736C>A (p.Arg246=) c.355C>A (p.Arg119=) | dbSNP gnomAD v4 |
X | g.85958881G= | CA2442478866 | CHM | c.799C= (p.Arg267=) n.126+68610C= c.736C= (p.Arg246=) c.355C= (p.Arg119=) | dbSNP |