| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.1496059C>T | CA116634 | TPO | c.2077C>T (p.Arg693Trp) c.1558C>T (p.Arg520Trp) c.1906C>T (p.Arg636Trp) c.1864C>T (p.Arg622Trp) c.501C>T n.424+2020C>T c.499C>T (p.Arg167Trp) n.677+2020C>T n.2078C>T c.2113C>T (p.Arg705Trp) c.1942C>T (p.Arg648Trp) c.1594C>T (p.Arg532Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.1496059C= | CA1233577881 | TPO | c.2077C= (p.Arg693=) c.1558C= (p.Arg520=) c.1906C= (p.Arg636=) c.1864C= (p.Arg622=) c.501C= n.424+2020C= c.499C= (p.Arg167=) n.677+2020C= n.2078C= c.2113C= (p.Arg705=) c.1942C= (p.Arg648=) c.1594C= (p.Arg532=) | dbSNP |