| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.49048053C>G | CA384649710 | KMT2D | c.4148G>C (p.Cys1383Ser) c.128G>C (p.Cys43Ser) c.4145G>C (p.Cys1382Ser) n.6468G>C n.5457G>C | dbSNP |
| 12 | g.49048053C>T | CA16619540 | KMT2D | c.4148G>A (p.Cys1383Tyr) c.128G>A (p.Cys43Tyr) c.4145G>A (p.Cys1382Tyr) n.6468G>A n.5457G>A | ClinVar dbSNP COSMIC COSMIC |