| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.177238273C>T | CA281545 | NSD1 | c.3085C>T (p.Arg1029Ter) n.774C>T n.3541C>T c.3649C>T (p.Arg1217Ter) n.3355C>T c.3922-1483C>T (n.3922-1483C>T) n.4105C>T c.3958C>T (p.Arg1320Ter) c.3151C>T (p.Arg1051Ter) c.333-1483C>T (n.333-1483C>T) c.3538C>T (p.Arg1180Ter) c.2902C>T (p.Arg968Ter) c.-74-1483C>T (n.-74-1483C>T) | ClinVar dbSNP |
| 5 | g.177238273C= | CA1603482460 | NSD1 | c.3085C= (p.Arg1029=) n.774C= n.3541C= c.3649C= (p.Arg1217=) n.3355C= c.3922-1483C= (n.3922-1483C=) n.4105C= c.3958C= (p.Arg1320=) c.3151C= (p.Arg1051=) c.333-1483C= (n.333-1483C=) c.3538C= (p.Arg1180=) c.2902C= (p.Arg968=) c.-74-1483C= (n.-74-1483C=) | dbSNP |
| 5 | g.177238273C>G | CA362339693 | NSD1 | c.3085C>G (p.Arg1029Gly) n.774C>G n.3541C>G c.3649C>G (p.Arg1217Gly) n.3355C>G c.3922-1483C>G (n.3922-1483C>G) n.4105C>G c.3958C>G (p.Arg1320Gly) c.3151C>G (p.Arg1051Gly) c.333-1483C>G (n.333-1483C>G) c.3538C>G (p.Arg1180Gly) c.2902C>G (p.Arg968Gly) c.-74-1483C>G (n.-74-1483C>G) | dbSNP gnomAD v4 |