| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.32434909C>T | CA129594 | ASXL1 | c.2197C>T (p.Gln733Ter) c.2014C>T (p.Gln672Ter) n.4550C>T c.1869+328C>T (n.1869+328C>T) c.2182C>T (p.Gln728Ter) c.2194C>T (p.Gln732Ter) c.2167C>T (p.Gln723Ter) c.2113C>T (p.Gln705Ter) c.1513C>T (p.Gln505Ter) c.2461C>T (p.Gln821Ter) c.2458C>T (p.Gln820Ter) c.2377C>T (p.Gln793Ter) c.2308C>T (p.Gln770Ter) c.2176C>T (p.Gln726Ter) c.2044C>T (p.Gln682Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 20 | g.32434909C= | CA2360292965 | ASXL1 | c.2197C= (p.Gln733=) c.2014C= (p.Gln672=) n.4550C= c.1869+328C= (n.1869+328C=) c.2182C= (p.Gln728=) c.2194C= (p.Gln732=) c.2167C= (p.Gln723=) c.2113C= (p.Gln705=) c.1513C= (p.Gln505=) c.2461C= (p.Gln821=) c.2458C= (p.Gln820=) c.2377C= (p.Gln793=) c.2308C= (p.Gln770=) c.2176C= (p.Gln726=) c.2044C= (p.Gln682=) | dbSNP dbSNP |