| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.177235863G>A | CA294854 | NSD1 | c.2966G>A (p.Trp989Ter) n.655G>A n.3422G>A c.3530G>A (p.Trp1177Ter) n.3236G>A c.3839G>A (p.Trp1280Ter) n.3986G>A c.3032G>A (p.Trp1011Ter) c.250G>A (n.250G>A) c.3419G>A (p.Trp1140Ter) c.2783G>A (p.Trp928Ter) c.-157G>A (n.-157G>A) | ClinVar dbSNP |
| 5 | g.177235863G= | CA1603478769 | NSD1 | c.2966G= (p.Trp989=) n.655G= n.3422G= c.3530G= (p.Trp1177=) n.3236G= c.3839G= (p.Trp1280=) n.3986G= c.3032G= (p.Trp1011=) c.250G= (n.250G=) c.3419G= (p.Trp1140=) c.2783G= (p.Trp928=) c.-157G= (n.-157G=) | dbSNP |