| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.49022151C>T | CA479520934 | KMT2D | c.383G>A n.1085G>A n.2047G>A n.819G>A c.16461G>A (p.Arg5487=) c.384G>A (p.Arg128=) c.1006G>A (n.1006G>A) c.1567G>A c.16422G>A (p.Arg5474=) c.414G>A (p.Arg138=) c.16410G>A (p.Arg5470=) c.16413G>A (p.Arg5471=) c.456G>A (p.Arg152=) c.16470G>A (p.Arg5490=) c.16467G>A (p.Arg5489=) c.16458G>A (p.Arg5486=) c.16449G>A (p.Arg5483=) c.16404G>A (p.Arg5468=) c.16377G>A (p.Arg5459=) n.16590G>A | dbSNP |
| 12 | g.49022151C>A | CA271613 | KMT2D | c.383G>T n.1085G>T n.2047G>T n.819G>T c.16461G>T (p.Arg5487Ser) c.384G>T (p.Arg128Ser) c.1006G>T (n.1006G>T) c.1567G>T c.16422G>T (p.Arg5474Ser) c.414G>T (p.Arg138Ser) c.16410G>T (p.Arg5470Ser) c.16413G>T (p.Arg5471Ser) c.456G>T (p.Arg152Ser) c.16470G>T (p.Arg5490Ser) c.16467G>T (p.Arg5489Ser) c.16458G>T (p.Arg5486Ser) c.16449G>T (p.Arg5483Ser) c.16404G>T (p.Arg5468Ser) c.16377G>T (p.Arg5459Ser) n.16590G>T | ClinVar dbSNP |