| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.49051870C>A | CA271618 | KMT2D | c.1813G>T (p.Glu605Ter) n.4133G>T n.3122G>T | ClinVar dbSNP |
| 12 | g.49051870C>T | CA384670191 | KMT2D | c.1813G>A (p.Glu605Lys) n.4133G>A n.3122G>A | dbSNP |
| 12 | g.49051870C>G | CA384670190 | KMT2D | c.1813G>C (p.Glu605Gln) n.4133G>C n.3122G>C | dbSNP |