| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.25240313G>A | CA1555658 | DNMT3A | c.630C>T c.1457C>T (n.1457C>T) c.1642C>T (p.Arg548Ter) c.2311C>T (p.Arg771Ter) c.1744C>T (p.Arg582Ter) n.530C>T n.683C>T n.630C>T n.311C>T n.310+327C>T c.1867C>T (p.Arg623Ter) c.2164C>T (p.Arg722Ter) c.2146C>T (p.Arg716Ter) c.1855C>T (p.Arg619Ter) c.1783C>T (p.Arg595Ter) n.2649C>T n.2588C>T n.2542C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 2 | g.25240313G>C | CA346069644 | DNMT3A | c.630C>G c.1457C>G (n.1457C>G) c.1642C>G (p.Arg548Gly) c.2311C>G (p.Arg771Gly) c.1744C>G (p.Arg582Gly) n.530C>G n.683C>G n.630C>G n.311C>G n.310+327C>G c.1867C>G (p.Arg623Gly) c.2164C>G (p.Arg722Gly) c.2146C>G (p.Arg716Gly) c.1855C>G (p.Arg619Gly) c.1783C>G (p.Arg595Gly) n.2649C>G n.2588C>G n.2542C>G | ClinVar dbSNP gnomAD v4 COSMIC |
| 2 | g.25240313G= | CA1239265127 | DNMT3A | c.630C= c.1457C= (n.1457C=) c.1642C= (p.Arg548=) c.2311C= (p.Arg771=) c.1744C= (p.Arg582=) n.530C= n.683C= n.630C= n.311C= n.310+327C= c.1867C= (p.Arg623=) c.2164C= (p.Arg722=) c.2146C= (p.Arg716=) c.1855C= (p.Arg619=) c.1783C= (p.Arg595=) n.2649C= n.2588C= n.2542C= | dbSNP |