Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.49049834G>C | CA384653700 | KMT2D | c.3754C>G (p.Arg1252Gly) n.6074C>G n.5063C>G | dbSNP gnomAD v4 |
12 | g.49049834G>A | CA234183 | KMT2D | c.3754C>T (p.Arg1252Ter) n.6074C>T n.5063C>T | ClinVar dbSNP COSMIC COSMIC |
12 | g.49049834G>T | CA479514841 | KMT2D | c.3754C>A (p.Arg1252=) n.6074C>A n.5063C>A | dbSNP |