| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.177282568T>A | CA362315983 | NSD1 | c.5123T>A (p.Leu1708His) c.638T>A (p.Leu213His) n.5579T>A c.5687T>A (p.Leu1896His) n.5393T>A n.6143T>A n.4545T>A c.5996T>A (p.Leu1999His) c.5189T>A (p.Leu1730His) c.1490T>A (p.Leu497His) c.5576T>A (p.Leu1859His) c.4940T>A (p.Leu1647His) c.1730T>A (p.Leu577His) | dbSNP |
| 5 | g.177282568T>C | CA362315984 | NSD1 | c.5123T>C (p.Leu1708Pro) c.638T>C (p.Leu213Pro) n.5579T>C c.5687T>C (p.Leu1896Pro) n.5393T>C n.6143T>C n.4545T>C c.5996T>C (p.Leu1999Pro) c.5189T>C (p.Leu1730Pro) c.1490T>C (p.Leu497Pro) c.5576T>C (p.Leu1859Pro) c.4940T>C (p.Leu1647Pro) c.1730T>C (p.Leu577Pro) | ClinVar dbSNP |
| 5 | g.177282568T= | CA1603552131 | NSD1 | c.5123T= (p.Leu1708=) c.638T= (p.Leu213=) n.5579T= c.5687T= (p.Leu1896=) n.5393T= n.6143T= n.4545T= c.5996T= (p.Leu1999=) c.5189T= (p.Leu1730=) c.1490T= (p.Leu497=) c.5576T= (p.Leu1859=) c.4940T= (p.Leu1647=) c.1730T= (p.Leu577=) | dbSNP |