| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.177257077A>T | CA362355816 | NSD1 | c.4019A>T (p.Lys1340Met) n.4475A>T c.4583A>T (p.Lys1528Met) n.4289A>T n.5039A>T c.4892A>T (p.Lys1631Met) c.4085A>T (p.Lys1362Met) c.386A>T (p.Lys129Met) c.4472A>T (p.Lys1491Met) c.3836A>T (p.Lys1279Met) c.626A>T (p.Lys209Met) | dbSNP |
| 5 | g.177257077A>G | CA223685 | NSD1 | c.4019A>G (p.Lys1340Arg) n.4475A>G c.4583A>G (p.Lys1528Arg) n.4289A>G n.5039A>G c.4892A>G (p.Lys1631Arg) c.4085A>G (p.Lys1362Arg) c.386A>G (p.Lys129Arg) c.4472A>G (p.Lys1491Arg) c.3836A>G (p.Lys1279Arg) c.626A>G (p.Lys209Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |