| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.32433480C>T | CA10603462 | ASXL1 | c.1282C>T (p.Gln428Ter) n.824C>T c.1099C>T (p.Gln367Ter) n.3121C>T c.1267C>T (p.Gln423Ter) c.1279C>T (p.Gln427Ter) c.1252C>T (p.Gln418Ter) c.1198C>T (p.Gln400Ter) c.598C>T (p.Gln200Ter) c.1546C>T (p.Gln516Ter) c.1543C>T (p.Gln515Ter) c.1462C>T (p.Gln488Ter) c.1393C>T (p.Gln465Ter) c.1261C>T (p.Gln421Ter) c.1129C>T (p.Gln377Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 20 | g.32433480C>G | CA408556244 | ASXL1 | c.1282C>G (p.Gln428Glu) n.824C>G c.1099C>G (p.Gln367Glu) n.3121C>G c.1267C>G (p.Gln423Glu) c.1279C>G (p.Gln427Glu) c.1252C>G (p.Gln418Glu) c.1198C>G (p.Gln400Glu) c.598C>G (p.Gln200Glu) c.1546C>G (p.Gln516Glu) c.1543C>G (p.Gln515Glu) c.1462C>G (p.Gln488Glu) c.1393C>G (p.Gln465Glu) c.1261C>G (p.Gln421Glu) c.1129C>G (p.Gln377Glu) | dbSNP |
| 20 | g.32433480C>A | CA408556243 | ASXL1 | c.1282C>A (p.Gln428Lys) n.824C>A c.1099C>A (p.Gln367Lys) n.3121C>A c.1267C>A (p.Gln423Lys) c.1279C>A (p.Gln427Lys) c.1252C>A (p.Gln418Lys) c.1198C>A (p.Gln400Lys) c.598C>A (p.Gln200Lys) c.1546C>A (p.Gln516Lys) c.1543C>A (p.Gln515Lys) c.1462C>A (p.Gln488Lys) c.1393C>A (p.Gln465Lys) c.1261C>A (p.Gln421Lys) c.1129C>A (p.Gln377Lys) | dbSNP |