Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.177292044C>A | CA447740737 | NSD1 | c.5476C>A (p.Arg1826=) c.991C>A (p.Arg331=) n.5932C>A n.765C>A c.6040C>A (p.Arg2014=) n.5746C>A c.6349C>A (p.Arg2117=) c.5542C>A (p.Arg1848=) n.491C>A c.1843C>A (p.Arg615=) c.5929C>A (p.Arg1977=) c.5293C>A (p.Arg1765=) c.2083C>A (p.Arg695=) | dbSNP gnomAD v4 |
5 | g.177292044C>G | CA362320503 | NSD1 | c.5476C>G (p.Arg1826Gly) c.991C>G (p.Arg331Gly) n.5932C>G n.765C>G c.6040C>G (p.Arg2014Gly) n.5746C>G c.6349C>G (p.Arg2117Gly) c.5542C>G (p.Arg1848Gly) n.491C>G c.1843C>G (p.Arg615Gly) c.5929C>G (p.Arg1977Gly) c.5293C>G (p.Arg1765Gly) c.2083C>G (p.Arg695Gly) | dbSNP |
5 | g.177292044C>T | CA295059 | NSD1 | c.5476C>T (p.Arg1826Ter) c.991C>T (p.Arg331Ter) n.5932C>T n.765C>T c.6040C>T (p.Arg2014Ter) n.5746C>T c.6349C>T (p.Arg2117Ter) c.5542C>T (p.Arg1848Ter) n.491C>T c.1843C>T (p.Arg615Ter) c.5929C>T (p.Arg1977Ter) c.5293C>T (p.Arg1765Ter) c.2083C>T (p.Arg695Ter) | ClinVar dbSNP |