| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.49031861G>A | CA16042794 | KMT2D | c.12844C>T (p.Arg4282Ter) c.12853C>T (p.Arg4285Ter) c.1753-549C>T (n.1753-549C>T) c.12841C>T (p.Arg4281Ter) c.4323C>T (n.4323C>T) c.12850C>T (p.Arg4284Ter) c.12832C>T (p.Arg4278Ter) c.12760C>T (p.Arg4254Ter) n.15173C>T n.14162C>T | ClinVar dbSNP COSMIC COSMIC |
| 12 | g.49031861G>T | CA479708071 | KMT2D | c.12844C>A (p.Arg4282=) c.12853C>A (p.Arg4285=) c.1753-549C>A (n.1753-549C>A) c.12841C>A (p.Arg4281=) c.4323C>A (n.4323C>A) c.12850C>A (p.Arg4284=) c.12832C>A (p.Arg4278=) c.12760C>A (p.Arg4254=) n.15173C>A n.14162C>A | dbSNP gnomAD v4 |