| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.132971813C>T | CA122634 | TG | c.5995C>T (p.Arg1999Trp) c.1361C>T c.457C>T (p.Arg153Trp) n.104C>T n.132C>T c.2650C>T c.5803C>T (p.Arg1935Trp) c.5929C>T (p.Arg1977Trp) c.5824C>T (p.Arg1942Trp) c.5776C>T (p.Arg1926Trp) c.5734C>T (p.Arg1912Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.132971813C= | CA1630835225 | TG | c.5995C= (p.Arg1999=) c.1361C= c.457C= (p.Arg153=) n.104C= n.132C= c.2650C= c.5803C= (p.Arg1935=) c.5929C= (p.Arg1977=) c.5824C= (p.Arg1942=) c.5776C= (p.Arg1926=) c.5734C= (p.Arg1912=) | dbSNP |