| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.236852578C>T | CA257198 | MTR | c.1753C>T (p.Arg585Ter) c.*795C>T (n.*795C>T) c.*497C>T (n.*497C>T) c.1405C>T (p.Arg469Ter) n.2067C>T n.2197C>T c.1573C>T (p.Arg525Ter) c.1516-7255C>T (n.1516-7255C>T) n.2148-7255C>T c.415C>T (p.Arg139Ter) n.1772C>T c.532C>T (p.Arg178Ter) c.1750C>T (p.Arg584Ter) c.817C>T (p.Arg273Ter) c.1921C>T (p.Arg641Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.236852578C= | CA1141581507 | MTR | c.1753C= (p.Arg585=) c.*795C= (n.*795C=) c.*497C= (n.*497C=) c.1405C= (p.Arg469=) n.2067C= n.2197C= c.1573C= (p.Arg525=) c.1516-7255C= (n.1516-7255C=) n.2148-7255C= c.415C= (p.Arg139=) n.1772C= c.532C= (p.Arg178=) c.1750C= (p.Arg584=) c.817C= (p.Arg273=) c.1921C= (p.Arg641=) | dbSNP |