| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.49040359G>A | CA16042800 | KMT2D | c.7411C>T (p.Arg2471Ter) c.7420C>T (p.Arg2474Ter) c.1430C>T c.1084C>T (p.Arg362Ter) c.1520C>T c.7408C>T (p.Arg2470Ter) c.7417C>T (p.Arg2473Ter) c.7399C>T (p.Arg2467Ter) c.7327C>T (p.Arg2443Ter) n.9740C>T n.8729C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 12 | g.49040359G>T | CA479711999 | KMT2D | c.7411C>A (p.Arg2471=) c.7420C>A (p.Arg2474=) c.1430C>A c.1084C>A (p.Arg362=) c.1520C>A c.7408C>A (p.Arg2470=) c.7417C>A (p.Arg2473=) c.7399C>A (p.Arg2467=) c.7327C>A (p.Arg2443=) n.9740C>A n.8729C>A | dbSNP |
| 12 | g.49040359G>C | CA384747754 | KMT2D | c.7411C>G (p.Arg2471Gly) c.7420C>G (p.Arg2474Gly) c.1430C>G c.1084C>G (p.Arg362Gly) c.1520C>G c.7408C>G (p.Arg2470Gly) c.7417C>G (p.Arg2473Gly) c.7399C>G (p.Arg2467Gly) c.7327C>G (p.Arg2443Gly) n.9740C>G n.8729C>G | dbSNP gnomAD v3 gnomAD v4 |