| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.32435605C>G | CA408561562 | ASXL1 | c.2893C>G (p.Arg965Gly) c.2710C>G (p.Arg904Gly) n.5246C>G c.1869+1024C>G (n.1869+1024C>G) c.2878C>G (p.Arg960Gly) c.2890C>G (p.Arg964Gly) c.2863C>G (p.Arg955Gly) c.2809C>G (p.Arg937Gly) c.2209C>G (p.Arg737Gly) c.3157C>G (p.Arg1053Gly) c.3154C>G (p.Arg1052Gly) c.3073C>G (p.Arg1025Gly) c.3004C>G (p.Arg1002Gly) c.2872C>G (p.Arg958Gly) c.2740C>G (p.Arg914Gly) | dbSNP |
| 20 | g.32435605C>A | CA510466532 | ASXL1 | c.2893C>A (p.Arg965=) c.2710C>A (p.Arg904=) n.5246C>A c.1869+1024C>A (n.1869+1024C>A) c.2878C>A (p.Arg960=) c.2890C>A (p.Arg964=) c.2863C>A (p.Arg955=) c.2809C>A (p.Arg937=) c.2209C>A (p.Arg737=) c.3157C>A (p.Arg1053=) c.3154C>A (p.Arg1052=) c.3073C>A (p.Arg1025=) c.3004C>A (p.Arg1002=) c.2872C>A (p.Arg958=) c.2740C>A (p.Arg914=) | dbSNP |
| 20 | g.32435605C>T | CA130319 | ASXL1 | c.2893C>T (p.Arg965Ter) c.2710C>T (p.Arg904Ter) n.5246C>T c.1869+1024C>T (n.1869+1024C>T) c.2878C>T (p.Arg960Ter) c.2890C>T (p.Arg964Ter) c.2863C>T (p.Arg955Ter) c.2809C>T (p.Arg937Ter) c.2209C>T (p.Arg737Ter) c.3157C>T (p.Arg1053Ter) c.3154C>T (p.Arg1052Ter) c.3073C>T (p.Arg1025Ter) c.3004C>T (p.Arg1002Ter) c.2872C>T (p.Arg958Ter) c.2740C>T (p.Arg914Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |