| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.49051294G>A | CA479714724 | KMT2D | c.2389C>T (p.Leu797=) n.4709C>T n.3698C>T | dbSNP gnomAD v4 COSMIC |
| 12 | g.49051294G>T | CA384665946 | KMT2D | c.2389C>A (p.Leu797Met) n.4709C>A n.3698C>A | dbSNP gnomAD v4 |
| 12 | g.49051294G>C | CA16043680 | KMT2D | c.2389C>G (p.Leu797Val) n.4709C>G n.3698C>G | ClinVar dbSNP |