| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.49026936dup | CA222022 | KMT2D | c.15030dup (p.Glu5011ArgfsTer13) c.155dup c.15039dup (p.Glu5014ArgfsTer13) c.261+867dup (n.261+867dup) c.416dup (n.416dup) c.15027dup (p.Glu5010ArgfsTer13) c.15036dup (p.Glu5013ArgfsTer13) c.15018dup (p.Glu5007ArgfsTer13) c.14973dup (p.Glu4992ArgfsTer13) c.14946dup (p.Glu4983ArgfsTer13) n.16972+867dup n.15961+867dup | ClinVar dbSNP |
| 12 | g.49026936T= | CA3191757993 | KMT2D | c.15030A= (p.Ala5010=) c.155A= c.15039A= (p.Ala5013=) c.261+867A= (n.261+867A=) c.416A= (n.416A=) c.15027A= (p.Ala5009=) c.15036A= (p.Ala5012=) c.15018A= (p.Ala5006=) c.14973A= (p.Ala4991=) c.14946A= (p.Ala4982=) n.16972+867A= n.15961+867A= | dbSNP dbSNP |