| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.177273771A>G | CA16604875 | NSD1 | c.4736A>G (p.Tyr1579Cys) c.251A>G (p.Tyr84Cys) n.5192A>G n.358A>G c.5300A>G (p.Tyr1767Cys) n.5006A>G n.5756A>G n.2528A>G c.5609A>G (p.Tyr1870Cys) c.4802A>G (p.Tyr1601Cys) c.1103A>G (p.Tyr368Cys) c.5189A>G (p.Tyr1730Cys) c.4553A>G (p.Tyr1518Cys) c.1343A>G (p.Tyr448Cys) | ClinVar dbSNP |
| 5 | g.177273771A>T | CA362309099 | NSD1 | c.4736A>T (p.Tyr1579Phe) c.251A>T (p.Tyr84Phe) n.5192A>T n.358A>T c.5300A>T (p.Tyr1767Phe) n.5006A>T n.5756A>T n.2528A>T c.5609A>T (p.Tyr1870Phe) c.4802A>T (p.Tyr1601Phe) c.1103A>T (p.Tyr368Phe) c.5189A>T (p.Tyr1730Phe) c.4553A>T (p.Tyr1518Phe) c.1343A>T (p.Tyr448Phe) | dbSNP |