| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.66531432G>A | CA324292 | TK2 | c.155C>T (p.Thr52Met) c.269C>T (p.Thr90Met) c.230C>T (p.Thr77Met) c.267C>T c.32C>T (p.Thr11Met) c.323C>T (p.Thr108Met) c.*181C>T (n.*181C>T) c.248C>T (p.Thr83Met) c.33-13555C>T c.38C>T (p.Thr13Met) n.210C>T c.55-2365C>T (n.55-2365C>T) c.213C>T (n.213C>T) c.70C>T c.395C>T (p.Thr132Met) c.449C>T (p.Thr150Met) c.217C>T c.176C>T (p.Thr59Met) n.1602C>T n.1312C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.66531432G= | CA2228912979 | TK2 | c.155C= (p.Thr52=) c.269C= (p.Thr90=) c.230C= (p.Thr77=) c.267C= c.32C= (p.Thr11=) c.323C= (p.Thr108=) c.*181C= (n.*181C=) c.248C= (p.Thr83=) c.33-13555C= c.38C= (p.Thr13=) n.210C= c.55-2365C= (n.55-2365C=) c.213C= (n.213C=) c.70C= c.395C= (p.Thr132=) c.449C= (p.Thr150=) c.217C= c.176C= (p.Thr59=) n.1602C= n.1312C= | dbSNP |
| 16 | g.66531432G>C | CA396190625 | TK2 | c.155C>G (p.Thr52Arg) c.269C>G (p.Thr90Arg) c.230C>G (p.Thr77Arg) c.267C>G c.32C>G (p.Thr11Arg) c.323C>G (p.Thr108Arg) c.*181C>G (n.*181C>G) c.248C>G (p.Thr83Arg) c.33-13555C>G c.38C>G (p.Thr13Arg) n.210C>G c.55-2365C>G (n.55-2365C>G) c.213C>G (n.213C>G) c.70C>G c.395C>G (p.Thr132Arg) c.449C>G (p.Thr150Arg) c.217C>G c.176C>G (p.Thr59Arg) n.1602C>G n.1312C>G | dbSNP |