| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.177257103T>C | CA362356113 | NSD1 | c.4045T>C (p.Cys1349Arg) n.4501T>C c.4609T>C (p.Cys1537Arg) n.4315T>C n.5065T>C c.4918T>C (p.Cys1640Arg) c.4111T>C (p.Cys1371Arg) c.412T>C (p.Cys138Arg) c.4498T>C (p.Cys1500Arg) c.3862T>C (p.Cys1288Arg) c.652T>C (p.Cys218Arg) | dbSNP |
| 5 | g.177257103T>A | CA10581426 | NSD1 | c.4045T>A (p.Cys1349Ser) n.4501T>A c.4609T>A (p.Cys1537Ser) n.4315T>A n.5065T>A c.4918T>A (p.Cys1640Ser) c.4111T>A (p.Cys1371Ser) c.412T>A (p.Cys138Ser) c.4498T>A (p.Cys1500Ser) c.3862T>A (p.Cys1288Ser) c.652T>A (p.Cys218Ser) | ClinVar dbSNP |