| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.177257029A>G | CA223682 | NSD1 | c.3971A>G (p.Tyr1324Cys) n.4427A>G c.4535A>G (p.Tyr1512Cys) n.4241A>G n.4991A>G c.4844A>G (p.Tyr1615Cys) c.4037A>G (p.Tyr1346Cys) c.338A>G (p.Tyr113Cys) c.4424A>G (p.Tyr1475Cys) c.3788A>G (p.Tyr1263Cys) c.578A>G (p.Tyr193Cys) | ClinVar dbSNP |
| 5 | g.177257029A>C | CA294909 | NSD1 | c.3971A>C (p.Tyr1324Ser) n.4427A>C c.4535A>C (p.Tyr1512Ser) n.4241A>C n.4991A>C c.4844A>C (p.Tyr1615Ser) c.4037A>C (p.Tyr1346Ser) c.338A>C (p.Tyr113Ser) c.4424A>C (p.Tyr1475Ser) c.3788A>C (p.Tyr1263Ser) c.578A>C (p.Tyr193Ser) | ClinVar dbSNP |