| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.25243931G>A | CA1555830 | DNMT3A | c.222C>T c.1049C>T (n.1049C>T) c.1234C>T (p.Arg412Trp) c.1903C>T (p.Arg635Trp) c.1336C>T (p.Arg446Trp) n.52C>T n.222C>T n.49C>T n.40C>T c.1459C>T (p.Arg487Trp) c.1756C>T (p.Arg586Trp) c.1738C>T (p.Arg580Trp) c.1447C>T (p.Arg483Trp) c.1375C>T (p.Arg459Trp) n.2241C>T n.2180C>T n.2134C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.25243931G>C | CA346071516 | DNMT3A | c.222C>G c.1049C>G (n.1049C>G) c.1234C>G (p.Arg412Gly) c.1903C>G (p.Arg635Gly) c.1336C>G (p.Arg446Gly) n.52C>G n.222C>G n.49C>G n.40C>G c.1459C>G (p.Arg487Gly) c.1756C>G (p.Arg586Gly) c.1738C>G (p.Arg580Gly) c.1447C>G (p.Arg483Gly) c.1375C>G (p.Arg459Gly) n.2241C>G n.2180C>G n.2134C>G | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.25243931G= | CA1239262420 | DNMT3A | c.222C= c.1049C= (n.1049C=) c.1234C= (p.Arg412=) c.1903C= (p.Arg635=) c.1336C= (p.Arg446=) n.52C= n.222C= n.49C= n.40C= c.1459C= (p.Arg487=) c.1756C= (p.Arg586=) c.1738C= (p.Arg580=) c.1447C= (p.Arg483=) c.1375C= (p.Arg459=) n.2241C= n.2180C= n.2134C= | dbSNP |