| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.1494031C>A | CA41424594 | TPO | c.1998C>A (p.Asp666Glu) c.1479C>A (p.Asp493Glu) c.1827C>A (p.Asp609Glu) c.1785C>A (p.Asp595Glu) c.422C>A n.416C>A c.420C>A (p.Asp140Glu) n.669C>A n.1999C>A c.2034C>A (p.Asp678Glu) c.1863C>A (p.Asp621Glu) c.1515C>A (p.Asp505Glu) | dbSNP gnomAD v4 |
| 2 | g.1494031C>G | CA41424599 | TPO | c.1998C>G (p.Asp666Glu) c.1479C>G (p.Asp493Glu) c.1827C>G (p.Asp609Glu) c.1785C>G (p.Asp595Glu) c.422C>G n.416C>G c.420C>G (p.Asp140Glu) n.669C>G n.1999C>G c.2034C>G (p.Asp678Glu) c.1863C>G (p.Asp621Glu) c.1515C>G (p.Asp505Glu) | dbSNP |
| 2 | g.1494031C>T | CA1511906 | TPO | c.1998C>T (p.Asp666=) c.1479C>T (p.Asp493=) c.1827C>T (p.Asp609=) c.1785C>T (p.Asp595=) c.422C>T n.416C>T c.420C>T (p.Asp140=) n.669C>T n.1999C>T c.2034C>T (p.Asp678=) c.1863C>T (p.Asp621=) c.1515C>T (p.Asp505=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |