Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.177273683G>C | CA16618180 | NSD1 | c.4648G>C (p.Ala1550Pro) c.163G>C (p.Ala55Pro) n.5104G>C n.270G>C c.5212G>C (p.Ala1738Pro) n.4918G>C n.5668G>C n.2440G>C c.5521G>C (p.Ala1841Pro) c.4714G>C (p.Ala1572Pro) c.1015G>C (p.Ala339Pro) c.5101G>C (p.Ala1701Pro) c.4465G>C (p.Ala1489Pro) c.1255G>C (p.Ala419Pro) | ClinVar dbSNP |
5 | g.177273683G= | CA1603543504 | NSD1 | c.4648G= (p.Ala1550=) c.163G= (p.Ala55=) n.5104G= n.270G= c.5212G= (p.Ala1738=) n.4918G= n.5668G= n.2440G= c.5521G= (p.Ala1841=) c.4714G= (p.Ala1572=) c.1015G= (p.Ala339=) c.5101G= (p.Ala1701=) c.4465G= (p.Ala1489=) c.1255G= (p.Ala419=) | dbSNP |