| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.177246710C>T | CA294880 | NSD1 | c.3538C>T (p.Arg1180Ter) n.3994C>T c.4102C>T (p.Arg1368Ter) n.3808C>T c.*156C>T (n.*156C>T) n.4558C>T c.4411C>T (p.Arg1471Ter) c.3604C>T (p.Arg1202Ter) c.3991C>T (p.Arg1331Ter) c.3355C>T (p.Arg1119Ter) c.145C>T (p.Arg49Ter) | ClinVar dbSNP COSMIC COSMIC |
| 5 | g.177246710C>G | CA3577638 | NSD1 | c.3538C>G (p.Arg1180Gly) n.3994C>G c.4102C>G (p.Arg1368Gly) n.3808C>G c.*156C>G (n.*156C>G) n.4558C>G c.4411C>G (p.Arg1471Gly) c.3604C>G (p.Arg1202Gly) c.3991C>G (p.Arg1331Gly) c.3355C>G (p.Arg1119Gly) c.145C>G (p.Arg49Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.177246710C= | CA1603496142 | NSD1 | c.3538C= (p.Arg1180=) n.3994C= c.4102C= (p.Arg1368=) n.3808C= c.*156C= (n.*156C=) n.4558C= c.4411C= (p.Arg1471=) c.3604C= (p.Arg1202=) c.3991C= (p.Arg1331=) c.3355C= (p.Arg1119=) c.145C= (p.Arg49=) | dbSNP |