| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.32435485C>T | CA129585 | ASXL1 | c.2773C>T (p.Gln925Ter) c.2590C>T (p.Gln864Ter) n.5126C>T c.1869+904C>T (n.1869+904C>T) c.2758C>T (p.Gln920Ter) c.2770C>T (p.Gln924Ter) c.2743C>T (p.Gln915Ter) c.2689C>T (p.Gln897Ter) c.2089C>T (p.Gln697Ter) c.3037C>T (p.Gln1013Ter) c.3034C>T (p.Gln1012Ter) c.2953C>T (p.Gln985Ter) c.2884C>T (p.Gln962Ter) c.2752C>T (p.Gln918Ter) c.2620C>T (p.Gln874Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.32435485C>G | CA408561196 | ASXL1 | c.2773C>G (p.Gln925Glu) c.2590C>G (p.Gln864Glu) n.5126C>G c.1869+904C>G (n.1869+904C>G) c.2758C>G (p.Gln920Glu) c.2770C>G (p.Gln924Glu) c.2743C>G (p.Gln915Glu) c.2689C>G (p.Gln897Glu) c.2089C>G (p.Gln697Glu) c.3037C>G (p.Gln1013Glu) c.3034C>G (p.Gln1012Glu) c.2953C>G (p.Gln985Glu) c.2884C>G (p.Gln962Glu) c.2752C>G (p.Gln918Glu) c.2620C>G (p.Gln874Glu) | dbSNP |
| 20 | g.32435485C= | CA2360293270 | ASXL1 | c.2773C= (p.Gln925=) c.2590C= (p.Gln864=) n.5126C= c.1869+904C= (n.1869+904C=) c.2758C= (p.Gln920=) c.2770C= (p.Gln924=) c.2743C= (p.Gln915=) c.2689C= (p.Gln897=) c.2089C= (p.Gln697=) c.3037C= (p.Gln1013=) c.3034C= (p.Gln1012=) c.2953C= (p.Gln985=) c.2884C= (p.Gln962=) c.2752C= (p.Gln918=) c.2620C= (p.Gln874=) | dbSNP |