Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.177292124C>G | CA281540 | NSD1 | c.5556C>G (p.His1852Gln) c.1071C>G (p.His357Gln) n.6012C>G n.845C>G c.6120C>G (p.His2040Gln) n.5826C>G c.6429C>G (p.His2143Gln) c.5622C>G (p.His1874Gln) n.571C>G c.1923C>G (p.His641Gln) c.6009C>G (p.His2003Gln) c.5373C>G (p.His1791Gln) c.2163C>G (p.His721Gln) | ClinVar dbSNP |
5 | g.177292124C>T | CA3577987 | NSD1 | c.5556C>T (p.His1852=) c.1071C>T (p.His357=) n.6012C>T n.845C>T c.6120C>T (p.His2040=) n.5826C>T c.6429C>T (p.His2143=) c.5622C>T (p.His1874=) n.571C>T c.1923C>T (p.His641=) c.6009C>T (p.His2003=) c.5373C>T (p.His1791=) c.2163C>T (p.His721=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |