Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.177293855C>G | CA362323368 | NSD1 | c.5614C>G (p.Gln1872Glu) c.1129C>G (p.Gln377Glu) n.6070C>G n.903C>G c.6178C>G (p.Gln2060Glu) n.5884C>G c.6487C>G (p.Gln2163Glu) c.5680C>G (p.Gln1894Glu) c.1981C>G (p.Gln661Glu) c.6067C>G (p.Gln2023Glu) c.5431C>G (p.Gln1811Glu) c.2221C>G (p.Gln741Glu) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.177293855C>A | CA362323382 | NSD1 | c.5614C>A (p.Gln1872Lys) c.1129C>A (p.Gln377Lys) n.6070C>A n.903C>A c.6178C>A (p.Gln2060Lys) n.5884C>A c.6487C>A (p.Gln2163Lys) c.5680C>A (p.Gln1894Lys) c.1981C>A (p.Gln661Lys) c.6067C>A (p.Gln2023Lys) c.5431C>A (p.Gln1811Lys) c.2221C>A (p.Gln741Lys) | dbSNP |
5 | g.177293855C>T | CA16611920 | NSD1 | c.5614C>T (p.Gln1872Ter) c.1129C>T (p.Gln377Ter) n.6070C>T n.903C>T c.6178C>T (p.Gln2060Ter) n.5884C>T c.6487C>T (p.Gln2163Ter) c.5680C>T (p.Gln1894Ter) c.1981C>T (p.Gln661Ter) c.6067C>T (p.Gln2023Ter) c.5431C>T (p.Gln1811Ter) c.2221C>T (p.Gln741Ter) | ClinVar dbSNP |