| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.49048038del | CA604885594 | KMT2D | c.4168del (p.Ala1390GlnfsTer27) c.148del (p.Ala50GlnfsTer27) c.4165del (p.Ala1389GlnfsTer27) n.6488del n.5477del | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 12 | g.49048038dup | CA275008 | KMT2D | c.4168dup (p.Ala1390GlyfsTer?) c.148dup (p.Ala50GlyfsTer?) c.4165dup (p.Ala1389GlyfsTer?) n.6488dup n.5477dup | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |