| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.32434579C>T | CA10603665 | ASXL1 | c.1867C>T (p.Gln623Ter) n.1409C>T c.1684C>T (p.Gln562Ter) n.4220C>T c.1852C>T (p.Gln618Ter) c.1864C>T (p.Gln622Ter) c.1837C>T (p.Gln613Ter) c.1783C>T (p.Gln595Ter) c.1183C>T (p.Gln395Ter) c.2131C>T (p.Gln711Ter) c.2128C>T (p.Gln710Ter) c.2047C>T (p.Gln683Ter) c.1978C>T (p.Gln660Ter) c.1846C>T (p.Gln616Ter) c.1714C>T (p.Gln572Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 20 | g.32434579C>G | CA408558083 | ASXL1 | c.1867C>G (p.Gln623Glu) n.1409C>G c.1684C>G (p.Gln562Glu) n.4220C>G c.1852C>G (p.Gln618Glu) c.1864C>G (p.Gln622Glu) c.1837C>G (p.Gln613Glu) c.1783C>G (p.Gln595Glu) c.1183C>G (p.Gln395Glu) c.2131C>G (p.Gln711Glu) c.2128C>G (p.Gln710Glu) c.2047C>G (p.Gln683Glu) c.1978C>G (p.Gln660Glu) c.1846C>G (p.Gln616Glu) c.1714C>G (p.Gln572Glu) | dbSNP |