| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.32433408C>G | CA408556091 | ASXL1 | c.1210C>G (p.Arg404Gly) n.752C>G c.1027C>G (p.Arg343Gly) n.3049C>G c.1195C>G (p.Arg399Gly) n.807C>G c.1207C>G (p.Arg403Gly) c.1180C>G (p.Arg394Gly) c.1126C>G (p.Arg376Gly) c.526C>G (p.Arg176Gly) c.1474C>G (p.Arg492Gly) c.1471C>G (p.Arg491Gly) c.1390C>G (p.Arg464Gly) c.1321C>G (p.Arg441Gly) c.1189C>G (p.Arg397Gly) c.1057C>G (p.Arg353Gly) | dbSNP |
| 20 | g.32433408C>A | CA510465760 | ASXL1 | c.1210C>A (p.Arg404=) n.752C>A c.1027C>A (p.Arg343=) n.3049C>A c.1195C>A (p.Arg399=) n.807C>A c.1207C>A (p.Arg403=) c.1180C>A (p.Arg394=) c.1126C>A (p.Arg376=) c.526C>A (p.Arg176=) c.1474C>A (p.Arg492=) c.1471C>A (p.Arg491=) c.1390C>A (p.Arg464=) c.1321C>A (p.Arg441=) c.1189C>A (p.Arg397=) c.1057C>A (p.Arg353=) | dbSNP gnomAD v4 |
| 20 | g.32433408C>T | CA129588 | ASXL1 | c.1210C>T (p.Arg404Ter) n.752C>T c.1027C>T (p.Arg343Ter) n.3049C>T c.1195C>T (p.Arg399Ter) n.807C>T c.1207C>T (p.Arg403Ter) c.1180C>T (p.Arg394Ter) c.1126C>T (p.Arg376Ter) c.526C>T (p.Arg176Ter) c.1474C>T (p.Arg492Ter) c.1471C>T (p.Arg491Ter) c.1390C>T (p.Arg464Ter) c.1321C>T (p.Arg441Ter) c.1189C>T (p.Arg397Ter) c.1057C>T (p.Arg353Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |