Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.177293855C>GCA362323368NSD1c.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
5g.177293855C>ACA362323382NSD1c.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
5g.177293855C>TCA16611920NSD1c.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

Number of alleles fetched