| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.49033556G>A | CA221990 | KMT2D | c.11149C>T (p.Gln3717Ter) c.11158C>T (p.Gln3720Ter) c.709C>T (p.Gln237Ter) c.2728C>T (p.Gln910Ter) c.11146C>T (p.Gln3716Ter) c.2628C>T (n.2628C>T) c.11155C>T (p.Gln3719Ter) c.11137C>T (p.Gln3713Ter) c.11065C>T (p.Gln3689Ter) n.13478C>T n.12467C>T | ClinVar dbSNP COSMIC COSMIC |
| 12 | g.49033556G= | CA2034948572 | KMT2D | c.11149C= (p.Gln3717=) c.11158C= (p.Gln3720=) c.709C= (p.Gln237=) c.2728C= (p.Gln910=) c.11146C= (p.Gln3716=) c.2628C= (n.2628C=) c.11155C= (p.Gln3719=) c.11137C= (p.Gln3713=) c.11065C= (p.Gln3689=) n.13478C= n.12467C= | dbSNP |