Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.177293851_177293862delinsGCATCAGTGTGACA1603535323NSD1c.5610_5621delinsGCATCAGTGTGA (p.Trp1870=)
c.1125_1136delinsGCATCAGTGTGA (p.Trp375=)
n.6066_6077delinsGCATCAGTGTGA
n.899_910delinsGCATCAGTGTGA
c.6174_6185delinsGCATCAGTGTGA (p.Trp2058=)
n.5880_5891delinsGCATCAGTGTGA
c.6483_6494delinsGCATCAGTGTGA (p.Trp2161=)
c.5676_5687delinsGCATCAGTGTGA (p.Trp1892=)
c.1977_1988delinsGCATCAGTGTGA (p.Trp659=)
c.6063_6074delinsGCATCAGTGTGA (p.Trp2021=)
c.5427_5438delinsGCATCAGTGTGA (p.Trp1809=)
c.2217_2228delinsGCATCAGTGTGA (p.Trp739=)
5g.177293856_177293866delCA1139659263NSD1c.5615_5625del (p.Gln1872LeufsTer10)
c.1130_1140del (p.Gln377LeufsTer10)
n.6071_6081del
n.904_914del
c.6179_6189del (p.Gln2060LeufsTer10)
n.5885_5895del
c.6488_6498del (p.Gln2163LeufsTer10)
c.5681_5691del (p.Gln1894LeufsTer10)
c.1982_1992del (p.Gln661LeufsTer10)
c.6068_6078del (p.Gln2023LeufsTer10)
c.5432_5442del (p.Gln1811LeufsTer10)
c.2222_2232del (p.Gln741LeufsTer10)
 ClinVar dbSNP
5g.177293862A>CCA362323445NSD1c.5621A>C (p.Asp1874Ala)
c.1136A>C (p.Asp379Ala)
n.6077A>C
n.910A>C
c.6185A>C (p.Asp2062Ala)
n.5891A>C
c.6494A>C (p.Asp2165Ala)
c.5687A>C (p.Asp1896Ala)
c.1988A>C (p.Asp663Ala)
c.6074A>C (p.Asp2025Ala)
c.5438A>C (p.Asp1813Ala)
c.2228A>C (p.Asp743Ala)
5g.177293862A>GCA362323447NSD1c.5621A>G (p.Asp1874Gly)
c.1136A>G (p.Asp379Gly)
n.6077A>G
n.910A>G
c.6185A>G (p.Asp2062Gly)
n.5891A>G
c.6494A>G (p.Asp2165Gly)
c.5687A>G (p.Asp1896Gly)
c.1988A>G (p.Asp663Gly)
c.6074A>G (p.Asp2025Gly)
c.5438A>G (p.Asp1813Gly)
c.2228A>G (p.Asp743Gly)
5g.177293862A>TCA362323450NSD1c.5621A>T (p.Asp1874Val)
c.1136A>T (p.Asp379Val)
n.6077A>T
n.910A>T
c.6185A>T (p.Asp2062Val)
n.5891A>T
c.6494A>T (p.Asp2165Val)
c.5687A>T (p.Asp1896Val)
c.1988A>T (p.Asp663Val)
c.6074A>T (p.Asp2025Val)
c.5438A>T (p.Asp1813Val)
c.2228A>T (p.Asp743Val)
5g.177293863C>ACA362323455NSD1c.5622C>A (p.Asp1874Glu)
c.1137C>A (p.Asp379Glu)
n.6078C>A
n.911C>A
c.6186C>A (p.Asp2062Glu)
n.5892C>A
c.6495C>A (p.Asp2165Glu)
c.5688C>A (p.Asp1896Glu)
c.1989C>A (p.Asp663Glu)
c.6075C>A (p.Asp2025Glu)
c.5439C>A (p.Asp1813Glu)
c.2229C>A (p.Asp743Glu)
5g.177293863C>GCA362323457NSD1c.5622C>G (p.Asp1874Glu)
c.1137C>G (p.Asp379Glu)
n.6078C>G
n.911C>G
c.6186C>G (p.Asp2062Glu)
n.5892C>G
c.6495C>G (p.Asp2165Glu)
c.5688C>G (p.Asp1896Glu)
c.1989C>G (p.Asp663Glu)
c.6075C>G (p.Asp2025Glu)
c.5439C>G (p.Asp1813Glu)
c.2229C>G (p.Asp743Glu)
5g.177293863C>TCA447961252NSD1c.5622C>T (p.Asp1874=)
c.1137C>T (p.Asp379=)
n.6078C>T
n.911C>T
c.6186C>T (p.Asp2062=)
n.5892C>T
c.6495C>T (p.Asp2165=)
c.5688C>T (p.Asp1896=)
c.1989C>T (p.Asp663=)
c.6075C>T (p.Asp2025=)
c.5439C>T (p.Asp1813=)
c.2229C>T (p.Asp743=)
5g.177293864A>CCA362323461NSD1c.5623A>C (p.Ile1875Leu)
c.1138A>C (p.Ile380Leu)
n.6079A>C
n.912A>C
c.6187A>C (p.Ile2063Leu)
n.5893A>C
c.6496A>C (p.Ile2166Leu)
c.5689A>C (p.Ile1897Leu)
c.1990A>C (p.Ile664Leu)
c.6076A>C (p.Ile2026Leu)
c.5440A>C (p.Ile1814Leu)
c.2230A>C (p.Ile744Leu)
5g.177293864A>GCA362323464NSD1c.5623A>G (p.Ile1875Val)
c.1138A>G (p.Ile380Val)
n.6079A>G
n.912A>G
c.6187A>G (p.Ile2063Val)
n.5893A>G
c.6496A>G (p.Ile2166Val)
c.5689A>G (p.Ile1897Val)
c.1990A>G (p.Ile664Val)
c.6076A>G (p.Ile2026Val)
c.5440A>G (p.Ile1814Val)
c.2230A>G (p.Ile744Val)
5g.177293864A>TCA362323462NSD1c.5623A>T (p.Ile1875Phe)
c.1138A>T (p.Ile380Phe)
n.6079A>T
n.912A>T
c.6187A>T (p.Ile2063Phe)
n.5893A>T
c.6496A>T (p.Ile2166Phe)
c.5689A>T (p.Ile1897Phe)
c.1990A>T (p.Ile664Phe)
c.6076A>T (p.Ile2026Phe)
c.5440A>T (p.Ile1814Phe)
c.2230A>T (p.Ile744Phe)
5g.177293865T>ACA362323467NSD1c.5624T>A (p.Ile1875Asn)
c.1139T>A (p.Ile380Asn)
n.6080T>A
n.913T>A
c.6188T>A (p.Ile2063Asn)
n.5894T>A
c.6497T>A (p.Ile2166Asn)
c.5690T>A (p.Ile1897Asn)
c.1991T>A (p.Ile664Asn)
c.6077T>A (p.Ile2026Asn)
c.5441T>A (p.Ile1814Asn)
c.2231T>A (p.Ile744Asn)
5g.177293865T>CCA362323469NSD1c.5624T>C (p.Ile1875Thr)
c.1139T>C (p.Ile380Thr)
n.6080T>C
n.913T>C
c.6188T>C (p.Ile2063Thr)
n.5894T>C
c.6497T>C (p.Ile2166Thr)
c.5690T>C (p.Ile1897Thr)
c.1991T>C (p.Ile664Thr)
c.6077T>C (p.Ile2026Thr)
c.5441T>C (p.Ile1814Thr)
c.2231T>C (p.Ile744Thr)
 gnomAD v4
5g.177293865T>GCA362323471NSD1c.5624T>G (p.Ile1875Ser)
c.1139T>G (p.Ile380Ser)
n.6080T>G
n.913T>G
c.6188T>G (p.Ile2063Ser)
n.5894T>G
c.6497T>G (p.Ile2166Ser)
c.5690T>G (p.Ile1897Ser)
c.1991T>G (p.Ile664Ser)
c.6077T>G (p.Ile2026Ser)
c.5441T>G (p.Ile1814Ser)
c.2231T>G (p.Ile744Ser)
5g.177293866C>ACA447961254NSD1c.5625C>A (p.Ile1875=)
c.1140C>A (p.Ile380=)
n.6081C>A
n.914C>A
c.6189C>A (p.Ile2063=)
n.5895C>A
c.6498C>A (p.Ile2166=)
c.5691C>A (p.Ile1897=)
c.1992C>A (p.Ile664=)
c.6078C>A (p.Ile2026=)
c.5442C>A (p.Ile1814=)
c.2232C>A (p.Ile744=)
5g.177293866C>GCA362323476NSD1c.5625C>G (p.Ile1875Met)
c.1140C>G (p.Ile380Met)
n.6081C>G
n.914C>G
c.6189C>G (p.Ile2063Met)
n.5895C>G
c.6498C>G (p.Ile2166Met)
c.5691C>G (p.Ile1897Met)
c.1992C>G (p.Ile664Met)
c.6078C>G (p.Ile2026Met)
c.5442C>G (p.Ile1814Met)
c.2232C>G (p.Ile744Met)
 dbSNP
5g.177293866C>TCA447961257NSD1c.5625C>T (p.Ile1875=)
c.1140C>T (p.Ile380=)
n.6081C>T
n.914C>T
c.6189C>T (p.Ile2063=)
n.5895C>T
c.6498C>T (p.Ile2166=)
c.5691C>T (p.Ile1897=)
c.1992C>T (p.Ile664=)
c.6078C>T (p.Ile2026=)
c.5442C>T (p.Ile1814=)
c.2232C>T (p.Ile744=)
5g.177293867T>ACA362323479NSD1c.5626T>A (p.Cys1876Ser)
c.1141T>A (p.Cys381Ser)
n.6082T>A
n.915T>A
c.6190T>A (p.Cys2064Ser)
n.5896T>A
c.6499T>A (p.Cys2167Ser)
c.5692T>A (p.Cys1898Ser)
c.1993T>A (p.Cys665Ser)
c.6079T>A (p.Cys2027Ser)
c.5443T>A (p.Cys1815Ser)
c.2233T>A (p.Cys745Ser)
5g.177293867T>CCA362323481NSD1c.5626T>C (p.Cys1876Arg)
c.1141T>C (p.Cys381Arg)
n.6082T>C
n.915T>C
c.6190T>C (p.Cys2064Arg)
n.5896T>C
c.6499T>C (p.Cys2167Arg)
c.5692T>C (p.Cys1898Arg)
c.1993T>C (p.Cys665Arg)
c.6079T>C (p.Cys2027Arg)
c.5443T>C (p.Cys1815Arg)
c.2233T>C (p.Cys745Arg)
5g.177293867T>GCA362323484NSD1c.5626T>G (p.Cys1876Gly)
c.1141T>G (p.Cys381Gly)
n.6082T>G
n.915T>G
c.6190T>G (p.Cys2064Gly)
n.5896T>G
c.6499T>G (p.Cys2167Gly)
c.5692T>G (p.Cys1898Gly)
c.1993T>G (p.Cys665Gly)
c.6079T>G (p.Cys2027Gly)
c.5443T>G (p.Cys1815Gly)
c.2233T>G (p.Cys745Gly)
5g.177293868G>ACA295092NSD1c.5627G>A (p.Cys1876Tyr)
c.1142G>A (p.Cys381Tyr)
n.6083G>A
n.916G>A
c.6191G>A (p.Cys2064Tyr)
n.5897G>A
c.6500G>A (p.Cys2167Tyr)
c.5693G>A (p.Cys1898Tyr)
c.1994G>A (p.Cys665Tyr)
c.6080G>A (p.Cys2027Tyr)
c.5444G>A (p.Cys1815Tyr)
c.2234G>A (p.Cys745Tyr)
 ClinVar dbSNP
5g.177293868G>CCA362323490NSD1c.5627G>C (p.Cys1876Ser)
c.1142G>C (p.Cys381Ser)
n.6083G>C
n.916G>C
c.6191G>C (p.Cys2064Ser)
n.5897G>C
c.6500G>C (p.Cys2167Ser)
c.5693G>C (p.Cys1898Ser)
c.1994G>C (p.Cys665Ser)
c.6080G>C (p.Cys2027Ser)
c.5444G>C (p.Cys1815Ser)
c.2234G>C (p.Cys745Ser)
5g.177293868G=CA1603535371NSD1c.5627G= (p.Cys1876=)
c.1142G= (p.Cys381=)
n.6083G=
n.916G=
c.6191G= (p.Cys2064=)
n.5897G=
c.6500G= (p.Cys2167=)
c.5693G= (p.Cys1898=)
c.1994G= (p.Cys665=)
c.6080G= (p.Cys2027=)
c.5444G= (p.Cys1815=)
c.2234G= (p.Cys745=)
5g.177293868G>TCA362323492NSD1c.5627G>T (p.Cys1876Phe)
c.1142G>T (p.Cys381Phe)
n.6083G>T
n.916G>T
c.6191G>T (p.Cys2064Phe)
n.5897G>T
c.6500G>T (p.Cys2167Phe)
c.5693G>T (p.Cys1898Phe)
c.1994G>T (p.Cys665Phe)
c.6080G>T (p.Cys2027Phe)
c.5444G>T (p.Cys1815Phe)
c.2234G>T (p.Cys745Phe)
5g.177293869_177293872delCA2769563011NSD1c.5628_5631del (p.Cys1876Ter)
c.1143_1146del (p.Cys381Ter)
n.6084_6087del
n.917_920del
c.6192_6195del (p.Cys2064Ter)
n.5898_5901del
c.6501_6504del (p.Cys2167Ter)
c.5694_5697del (p.Cys1898Ter)
c.1995_1998del (p.Cys665Ter)
c.6081_6084del (p.Cys2027Ter)
c.5445_5448del (p.Cys1815Ter)
c.2235_2238del (p.Cys745Ter)
5g.177293869C>ACA362323496NSD1c.5628C>A (p.Cys1876Ter)
c.1143C>A (p.Cys381Ter)
n.6084C>A
n.917C>A
c.6192C>A (p.Cys2064Ter)
n.5898C>A
c.6501C>A (p.Cys2167Ter)
c.5694C>A (p.Cys1898Ter)
c.1995C>A (p.Cys665Ter)
c.6081C>A (p.Cys2027Ter)
c.5445C>A (p.Cys1815Ter)
c.2235C>A (p.Cys745Ter)
 ClinVar
5g.177293869C=CA1603535379NSD1c.5628C= (p.Cys1876=)
c.1143C= (p.Cys381=)
n.6084C=
n.917C=
c.6192C= (p.Cys2064=)
n.5898C=
c.6501C= (p.Cys2167=)
c.5694C= (p.Cys1898=)
c.1995C= (p.Cys665=)
c.6081C= (p.Cys2027=)
c.5445C= (p.Cys1815=)
c.2235C= (p.Cys745=)
5g.177293869C>GCA362323499NSD1c.5628C>G (p.Cys1876Trp)
c.1143C>G (p.Cys381Trp)
n.6084C>G
n.917C>G
c.6192C>G (p.Cys2064Trp)
n.5898C>G
c.6501C>G (p.Cys2167Trp)
c.5694C>G (p.Cys1898Trp)
c.1995C>G (p.Cys665Trp)
c.6081C>G (p.Cys2027Trp)
c.5445C>G (p.Cys1815Trp)
c.2235C>G (p.Cys745Trp)
5g.177293869C>TCA132862418NSD1c.5628C>T (p.Cys1876=)
c.1143C>T (p.Cys381=)
n.6084C>T
n.917C>T
c.6192C>T (p.Cys2064=)
n.5898C>T
c.6501C>T (p.Cys2167=)
c.5694C>T (p.Cys1898=)
c.1995C>T (p.Cys665=)
c.6081C>T (p.Cys2027=)
c.5445C>T (p.Cys1815=)
c.2235C>T (p.Cys745=)
 dbSNP gnomAD v3 gnomAD v4
5g.177293870G>ACA362323505NSD1c.5629G>A (p.Gly1877Arg)
c.1144G>A (p.Gly382Arg)
n.6085G>A
n.918G>A
c.6193G>A (p.Gly2065Arg)
n.5899G>A
c.6502G>A (p.Gly2168Arg)
c.5695G>A (p.Gly1899Arg)
c.1996G>A (p.Gly666Arg)
c.6082G>A (p.Gly2028Arg)
c.5446G>A (p.Gly1816Arg)
c.2236G>A (p.Gly746Arg)
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
5g.177293870G>CCA362323510NSD1c.5629G>C (p.Gly1877Arg)
c.1144G>C (p.Gly382Arg)
n.6085G>C
n.918G>C
c.6193G>C (p.Gly2065Arg)
n.5899G>C
c.6502G>C (p.Gly2168Arg)
c.5695G>C (p.Gly1899Arg)
c.1996G>C (p.Gly666Arg)
c.6082G>C (p.Gly2028Arg)
c.5446G>C (p.Gly1816Arg)
c.2236G>C (p.Gly746Arg)
5g.177293870G=CA1603535384NSD1c.5629G= (p.Gly1877=)
c.1144G= (p.Gly382=)
n.6085G=
n.918G=
c.6193G= (p.Gly2065=)
n.5899G=
c.6502G= (p.Gly2168=)
c.5695G= (p.Gly1899=)
c.1996G= (p.Gly666=)
c.6082G= (p.Gly2028=)
c.5446G= (p.Gly1816=)
c.2236G= (p.Gly746=)
5g.177293870G>TCA362323507NSD1c.5629G>T (p.Gly1877Trp)
c.1144G>T (p.Gly382Trp)
n.6085G>T
n.918G>T
c.6193G>T (p.Gly2065Trp)
n.5899G>T
c.6502G>T (p.Gly2168Trp)
c.5695G>T (p.Gly1899Trp)
c.1996G>T (p.Gly666Trp)
c.6082G>T (p.Gly2028Trp)
c.5446G>T (p.Gly1816Trp)
c.2236G>T (p.Gly746Trp)
5g.177293871G>ACA362323515NSD1c.5630G>A (p.Gly1877Glu)
c.1145G>A (p.Gly382Glu)
n.6086G>A
n.919G>A
c.6194G>A (p.Gly2065Glu)
n.5900G>A
c.6503G>A (p.Gly2168Glu)
c.5696G>A (p.Gly1899Glu)
c.1997G>A (p.Gly666Glu)
c.6083G>A (p.Gly2028Glu)
c.5447G>A (p.Gly1816Glu)
c.2237G>A (p.Gly746Glu)
 dbSNP
5g.177293871G>CCA362323518NSD1c.5630G>C (p.Gly1877Ala)
c.1145G>C (p.Gly382Ala)
n.6086G>C
n.919G>C
c.6194G>C (p.Gly2065Ala)
n.5900G>C
c.6503G>C (p.Gly2168Ala)
c.5696G>C (p.Gly1899Ala)
c.1997G>C (p.Gly666Ala)
c.6083G>C (p.Gly2028Ala)
c.5447G>C (p.Gly1816Ala)
c.2237G>C (p.Gly746Ala)
5g.177293871G>TCA362323521NSD1c.5630G>T (p.Gly1877Val)
c.1145G>T (p.Gly382Val)
n.6086G>T
n.919G>T
c.6194G>T (p.Gly2065Val)
n.5900G>T
c.6503G>T (p.Gly2168Val)
c.5696G>T (p.Gly1899Val)
c.1997G>T (p.Gly666Val)
c.6083G>T (p.Gly2028Val)
c.5447G>T (p.Gly1816Val)
c.2237G>T (p.Gly746Val)
5g.177293872G>ACA447961267NSD1c.5631G>A (p.Gly1877=)
c.1146G>A (p.Gly382=)
n.6087G>A
n.920G>A
c.6195G>A (p.Gly2065=)
n.5901G>A
c.6504G>A (p.Gly2168=)
c.5697G>A (p.Gly1899=)
c.1998G>A (p.Gly666=)
c.6084G>A (p.Gly2028=)
c.5448G>A (p.Gly1816=)
c.2238G>A (p.Gly746=)
 dbSNP
5g.177293872G>CCA447961265NSD1c.5631G>C (p.Gly1877=)
c.1146G>C (p.Gly382=)
n.6087G>C
n.920G>C
c.6195G>C (p.Gly2065=)
n.5901G>C
c.6504G>C (p.Gly2168=)
c.5697G>C (p.Gly1899=)
c.1998G>C (p.Gly666=)
c.6084G>C (p.Gly2028=)
c.5448G>C (p.Gly1816=)
c.2238G>C (p.Gly746=)
5g.177293872G>TCA447961266NSD1c.5631G>T (p.Gly1877=)
c.1146G>T (p.Gly382=)
n.6087G>T
n.920G>T
c.6195G>T (p.Gly2065=)
n.5901G>T
c.6504G>T (p.Gly2168=)
c.5697G>T (p.Gly1899=)
c.1998G>T (p.Gly666=)
c.6084G>T (p.Gly2028=)
c.5448G>T (p.Gly1816=)
c.2238G>T (p.Gly746=)
5g.177293872_177293880delCA2580074152NSD1c.5631_5639del (p.Lys1878_Ala1880del)
c.1146_1154del (p.Lys383_Ala385del)
n.6087_6095del
n.920_928del
c.6195_6203del (p.Lys2066_Ala2068del)
n.5901_5909del
c.6504_6512del (p.Lys2169_Ala2171del)
c.5697_5705del (p.Lys1900_Ala1902del)
c.1998_2006del (p.Lys667_Ala669del)
c.6084_6092del (p.Lys2029_Ala2031del)
c.5448_5456del (p.Lys1817_Ala1819del)
c.2238_2246del (p.Lys747_Ala749del)
 ClinVar
5g.177293873A>CCA362323526NSD1c.5632A>C (p.Lys1878Gln)
c.1147A>C (p.Lys383Gln)
n.6088A>C
n.921A>C
c.6196A>C (p.Lys2066Gln)
n.5902A>C
c.6505A>C (p.Lys2169Gln)
c.5698A>C (p.Lys1900Gln)
c.1999A>C (p.Lys667Gln)
c.6085A>C (p.Lys2029Gln)
c.5449A>C (p.Lys1817Gln)
c.2239A>C (p.Lys747Gln)
5g.177293873A>GCA362323535NSD1c.5632A>G (p.Lys1878Glu)
c.1147A>G (p.Lys383Glu)
n.6088A>G
n.921A>G
c.6196A>G (p.Lys2066Glu)
n.5902A>G
c.6505A>G (p.Lys2169Glu)
c.5698A>G (p.Lys1900Glu)
c.1999A>G (p.Lys667Glu)
c.6085A>G (p.Lys2029Glu)
c.5449A>G (p.Lys1817Glu)
c.2239A>G (p.Lys747Glu)
5g.177293873A>TCA362323542NSD1c.5632A>T (p.Lys1878Ter)
c.1147A>T (p.Lys383Ter)
n.6088A>T
n.921A>T
c.6196A>T (p.Lys2066Ter)
n.5902A>T
c.6505A>T (p.Lys2169Ter)
c.5698A>T (p.Lys1900Ter)
c.1999A>T (p.Lys667Ter)
c.6085A>T (p.Lys2029Ter)
c.5449A>T (p.Lys1817Ter)
c.2239A>T (p.Lys747Ter)
5g.177293874A>CCA362323551NSD1c.5633A>C (p.Lys1878Thr)
c.1148A>C (p.Lys383Thr)
n.6089A>C
n.922A>C
c.6197A>C (p.Lys2066Thr)
n.5903A>C
c.6506A>C (p.Lys2169Thr)
c.5699A>C (p.Lys1900Thr)
c.2000A>C (p.Lys667Thr)
c.6086A>C (p.Lys2029Thr)
c.5450A>C (p.Lys1817Thr)
c.2240A>C (p.Lys747Thr)
5g.177293874A>GCA362323547NSD1c.5633A>G (p.Lys1878Arg)
c.1148A>G (p.Lys383Arg)
n.6089A>G
n.922A>G
c.6197A>G (p.Lys2066Arg)
n.5903A>G
c.6506A>G (p.Lys2169Arg)
c.5699A>G (p.Lys1900Arg)
c.2000A>G (p.Lys667Arg)
c.6086A>G (p.Lys2029Arg)
c.5450A>G (p.Lys1817Arg)
c.2240A>G (p.Lys747Arg)
5g.177293874A>TCA362323549NSD1c.5633A>T (p.Lys1878Met)
c.1148A>T (p.Lys383Met)
n.6089A>T
n.922A>T
c.6197A>T (p.Lys2066Met)
n.5903A>T
c.6506A>T (p.Lys2169Met)
c.5699A>T (p.Lys1900Met)
c.2000A>T (p.Lys667Met)
c.6086A>T (p.Lys2029Met)
c.5450A>T (p.Lys1817Met)
c.2240A>T (p.Lys747Met)
5g.177293875G>ACA447961272NSD1c.5634G>A (p.Lys1878=)
c.1149G>A (p.Lys383=)
n.6090G>A
n.923G>A
c.6198G>A (p.Lys2066=)
n.5904G>A
c.6507G>A (p.Lys2169=)
c.5700G>A (p.Lys1900=)
c.2001G>A (p.Lys667=)
c.6087G>A (p.Lys2029=)
c.5451G>A (p.Lys1817=)
c.2241G>A (p.Lys747=)
5g.177293875G>CCA362323554NSD1c.5634G>C (p.Lys1878Asn)
c.1149G>C (p.Lys383Asn)
n.6090G>C
n.923G>C
c.6198G>C (p.Lys2066Asn)
n.5904G>C
c.6507G>C (p.Lys2169Asn)
c.5700G>C (p.Lys1900Asn)
c.2001G>C (p.Lys667Asn)
c.6087G>C (p.Lys2029Asn)
c.5451G>C (p.Lys1817Asn)
c.2241G>C (p.Lys747Asn)
5g.177293875G>TCA362323557NSD1c.5634G>T (p.Lys1878Asn)
c.1149G>T (p.Lys383Asn)
n.6090G>T
n.923G>T
c.6198G>T (p.Lys2066Asn)
n.5904G>T
c.6507G>T (p.Lys2169Asn)
c.5700G>T (p.Lys1900Asn)
c.2001G>T (p.Lys667Asn)
c.6087G>T (p.Lys2029Asn)
c.5451G>T (p.Lys1817Asn)
c.2241G>T (p.Lys747Asn)
5g.177293876G>ACA362323560NSD1c.5635G>A (p.Glu1879Lys)
c.1150G>A (p.Glu384Lys)
n.6091G>A
n.924G>A
c.6199G>A (p.Glu2067Lys)
n.5905G>A
c.6508G>A (p.Glu2170Lys)
c.5701G>A (p.Glu1901Lys)
c.2002G>A (p.Glu668Lys)
c.6088G>A (p.Glu2030Lys)
c.5452G>A (p.Glu1818Lys)
c.2242G>A (p.Glu748Lys)
5g.177293876G>CCA362323563NSD1c.5635G>C (p.Glu1879Gln)
c.1150G>C (p.Glu384Gln)
n.6091G>C
n.924G>C
c.6199G>C (p.Glu2067Gln)
n.5905G>C
c.6508G>C (p.Glu2170Gln)
c.5701G>C (p.Glu1901Gln)
c.2002G>C (p.Glu668Gln)
c.6088G>C (p.Glu2030Gln)
c.5452G>C (p.Glu1818Gln)
c.2242G>C (p.Glu748Gln)
5g.177293876G>TCA362323565NSD1c.5635G>T (p.Glu1879Ter)
c.1150G>T (p.Glu384Ter)
n.6091G>T
n.924G>T
c.6199G>T (p.Glu2067Ter)
n.5905G>T
c.6508G>T (p.Glu2170Ter)
c.5701G>T (p.Glu1901Ter)
c.2002G>T (p.Glu668Ter)
c.6088G>T (p.Glu2030Ter)
c.5452G>T (p.Glu1818Ter)
c.2242G>T (p.Glu748Ter)
5g.177293877A>CCA362323570NSD1c.5636A>C (p.Glu1879Ala)
c.1151A>C (p.Glu384Ala)
n.6092A>C
n.925A>C
c.6200A>C (p.Glu2067Ala)
n.5906A>C
c.6509A>C (p.Glu2170Ala)
c.5702A>C (p.Glu1901Ala)
c.2003A>C (p.Glu668Ala)
c.6089A>C (p.Glu2030Ala)
c.5453A>C (p.Glu1818Ala)
c.2243A>C (p.Glu748Ala)
5g.177293877A>GCA362323582NSD1c.5636A>G (p.Glu1879Gly)
c.1151A>G (p.Glu384Gly)
n.6092A>G
n.925A>G
c.6200A>G (p.Glu2067Gly)
n.5906A>G
c.6509A>G (p.Glu2170Gly)
c.5702A>G (p.Glu1901Gly)
c.2003A>G (p.Glu668Gly)
c.6089A>G (p.Glu2030Gly)
c.5453A>G (p.Glu1818Gly)
c.2243A>G (p.Glu748Gly)
5g.177293877A>TCA362323579NSD1c.5636A>T (p.Glu1879Val)
c.1151A>T (p.Glu384Val)
n.6092A>T
n.925A>T
c.6200A>T (p.Glu2067Val)
n.5906A>T
c.6509A>T (p.Glu2170Val)
c.5702A>T (p.Glu1901Val)
c.2003A>T (p.Glu668Val)
c.6089A>T (p.Glu2030Val)
c.5453A>T (p.Glu1818Val)
c.2243A>T (p.Glu748Val)
5g.177293878A>CCA362323586NSD1c.5637A>C (p.Glu1879Asp)
c.1152A>C (p.Glu384Asp)
n.6093A>C
n.926A>C
c.6201A>C (p.Glu2067Asp)
n.5907A>C
c.6510A>C (p.Glu2170Asp)
c.5703A>C (p.Glu1901Asp)
c.2004A>C (p.Glu668Asp)
c.6090A>C (p.Glu2030Asp)
c.5454A>C (p.Glu1818Asp)
c.2244A>C (p.Glu748Asp)
5g.177293878A>GCA447961276NSD1c.5637A>G (p.Glu1879=)
c.1152A>G (p.Glu384=)
n.6093A>G
n.926A>G
c.6201A>G (p.Glu2067=)
n.5907A>G
c.6510A>G (p.Glu2170=)
c.5703A>G (p.Glu1901=)
c.2004A>G (p.Glu668=)
c.6090A>G (p.Glu2030=)
c.5454A>G (p.Glu1818=)
c.2244A>G (p.Glu748=)
5g.177293878A>TCA362323588NSD1c.5637A>T (p.Glu1879Asp)
c.1152A>T (p.Glu384Asp)
n.6093A>T
n.926A>T
c.6201A>T (p.Glu2067Asp)
n.5907A>T
c.6510A>T (p.Glu2170Asp)
c.5703A>T (p.Glu1901Asp)
c.2004A>T (p.Glu668Asp)
c.6090A>T (p.Glu2030Asp)
c.5454A>T (p.Glu1818Asp)
c.2244A>T (p.Glu748Asp)
5g.177293879G>ACA362323593NSD1c.5638G>A (p.Ala1880Thr)
c.1153G>A (p.Ala385Thr)
n.6094G>A
n.927G>A
c.6202G>A (p.Ala2068Thr)
n.5908G>A
c.6511G>A (p.Ala2171Thr)
c.5704G>A (p.Ala1902Thr)
c.2005G>A (p.Ala669Thr)
c.6091G>A (p.Ala2031Thr)
c.5455G>A (p.Ala1819Thr)
c.2245G>A (p.Ala749Thr)
5g.177293879G>CCA362323596NSD1c.5638G>C (p.Ala1880Pro)
c.1153G>C (p.Ala385Pro)
n.6094G>C
n.927G>C
c.6202G>C (p.Ala2068Pro)
n.5908G>C
c.6511G>C (p.Ala2171Pro)
c.5704G>C (p.Ala1902Pro)
c.2005G>C (p.Ala669Pro)
c.6091G>C (p.Ala2031Pro)
c.5455G>C (p.Ala1819Pro)
c.2245G>C (p.Ala749Pro)
5g.177293879G>TCA362323599NSD1c.5638G>T (p.Ala1880Ser)
c.1153G>T (p.Ala385Ser)
n.6094G>T
n.927G>T
c.6202G>T (p.Ala2068Ser)
n.5908G>T
c.6511G>T (p.Ala2171Ser)
c.5704G>T (p.Ala1902Ser)
c.2005G>T (p.Ala669Ser)
c.6091G>T (p.Ala2031Ser)
c.5455G>T (p.Ala1819Ser)
c.2245G>T (p.Ala749Ser)
 gnomAD v4
5g.177293880C>ACA362323602NSD1c.5639C>A (p.Ala1880Glu)
c.1154C>A (p.Ala385Glu)
n.6095C>A
n.928C>A
c.6203C>A (p.Ala2068Glu)
n.5909C>A
c.6512C>A (p.Ala2171Glu)
c.5705C>A (p.Ala1902Glu)
c.2006C>A (p.Ala669Glu)
c.6092C>A (p.Ala2031Glu)
c.5456C>A (p.Ala1819Glu)
c.2246C>A (p.Ala749Glu)
5g.177293880C>GCA362323603NSD1c.5639C>G (p.Ala1880Gly)
c.1154C>G (p.Ala385Gly)
n.6095C>G
n.928C>G
c.6203C>G (p.Ala2068Gly)
n.5909C>G
c.6512C>G (p.Ala2171Gly)
c.5705C>G (p.Ala1902Gly)
c.2006C>G (p.Ala669Gly)
c.6092C>G (p.Ala2031Gly)
c.5456C>G (p.Ala1819Gly)
c.2246C>G (p.Ala749Gly)
5g.177293880C>TCA362323606NSD1c.5639C>T (p.Ala1880Val)
c.1154C>T (p.Ala385Val)
n.6095C>T
n.928C>T
c.6203C>T (p.Ala2068Val)
n.5909C>T
c.6512C>T (p.Ala2171Val)
c.5705C>T (p.Ala1902Val)
c.2006C>T (p.Ala669Val)
c.6092C>T (p.Ala2031Val)
c.5456C>T (p.Ala1819Val)
c.2246C>T (p.Ala749Val)
 dbSNP
5g.177293881A=CA1603535394NSD1c.5640A= (p.Ala1880=)
c.1155A= (p.Ala385=)
n.6096A=
n.929A=
c.6204A= (p.Ala2068=)
n.5910A=
c.6513A= (p.Ala2171=)
c.5706A= (p.Ala1902=)
c.2007A= (p.Ala669=)
c.6093A= (p.Ala2031=)
c.5457A= (p.Ala1819=)
c.2247A= (p.Ala749=)
5g.177293881A>CCA447961284NSD1c.5640A>C (p.Ala1880=)
c.1155A>C (p.Ala385=)
n.6096A>C
n.929A>C
c.6204A>C (p.Ala2068=)
n.5910A>C
c.6513A>C (p.Ala2171=)
c.5706A>C (p.Ala1902=)
c.2007A>C (p.Ala669=)
c.6093A>C (p.Ala2031=)
c.5457A>C (p.Ala1819=)
c.2247A>C (p.Ala749=)
 ClinVar dbSNP gnomAD v4
5g.177293881A>GCA447961285NSD1c.5640A>G (p.Ala1880=)
c.1155A>G (p.Ala385=)
n.6096A>G
n.929A>G
c.6204A>G (p.Ala2068=)
n.5910A>G
c.6513A>G (p.Ala2171=)
c.5706A>G (p.Ala1902=)
c.2007A>G (p.Ala669=)
c.6093A>G (p.Ala2031=)
c.5457A>G (p.Ala1819=)
c.2247A>G (p.Ala749=)
5g.177293881A>TCA447961286NSD1c.5640A>T (p.Ala1880=)
c.1155A>T (p.Ala385=)
n.6096A>T
n.929A>T
c.6204A>T (p.Ala2068=)
n.5910A>T
c.6513A>T (p.Ala2171=)
c.5706A>T (p.Ala1902=)
c.2007A>T (p.Ala669=)
c.6093A>T (p.Ala2031=)
c.5457A>T (p.Ala1819=)
c.2247A>T (p.Ala749=)
5g.177293882G>ACA362323609NSD1c.5641G>A (p.Ala1881Thr)
c.1156G>A (p.Ala386Thr)
n.6097G>A
n.930G>A
c.6205G>A (p.Ala2069Thr)
n.5911G>A
c.6514G>A (p.Ala2172Thr)
c.5707G>A (p.Ala1903Thr)
c.2008G>A (p.Ala670Thr)
c.6094G>A (p.Ala2032Thr)
c.5458G>A (p.Ala1820Thr)
c.2248G>A (p.Ala750Thr)
 dbSNP
5g.177293882G>CCA362323611NSD1c.5641G>C (p.Ala1881Pro)
c.1156G>C (p.Ala386Pro)
n.6097G>C
n.930G>C
c.6205G>C (p.Ala2069Pro)
n.5911G>C
c.6514G>C (p.Ala2172Pro)
c.5707G>C (p.Ala1903Pro)
c.2008G>C (p.Ala670Pro)
c.6094G>C (p.Ala2032Pro)
c.5458G>C (p.Ala1820Pro)
c.2248G>C (p.Ala750Pro)
5g.177293882G>TCA362323614NSD1c.5641G>T (p.Ala1881Ser)
c.1156G>T (p.Ala386Ser)
n.6097G>T
n.930G>T
c.6205G>T (p.Ala2069Ser)
n.5911G>T
c.6514G>T (p.Ala2172Ser)
c.5707G>T (p.Ala1903Ser)
c.2008G>T (p.Ala670Ser)
c.6094G>T (p.Ala2032Ser)
c.5458G>T (p.Ala1820Ser)
c.2248G>T (p.Ala750Ser)
5g.177293883C>ACA362323617NSD1c.5642C>A (p.Ala1881Asp)
c.1157C>A (p.Ala386Asp)
n.6098C>A
n.931C>A
c.6206C>A (p.Ala2069Asp)
n.5912C>A
c.6515C>A (p.Ala2172Asp)
c.5708C>A (p.Ala1903Asp)
c.2009C>A (p.Ala670Asp)
c.6095C>A (p.Ala2032Asp)
c.5459C>A (p.Ala1820Asp)
c.2249C>A (p.Ala750Asp)
5g.177293883C>GCA362323624NSD1c.5642C>G (p.Ala1881Gly)
c.1157C>G (p.Ala386Gly)
n.6098C>G
n.931C>G
c.6206C>G (p.Ala2069Gly)
n.5912C>G
c.6515C>G (p.Ala2172Gly)
c.5708C>G (p.Ala1903Gly)
c.2009C>G (p.Ala670Gly)
c.6095C>G (p.Ala2032Gly)
c.5459C>G (p.Ala1820Gly)
c.2249C>G (p.Ala750Gly)
5g.177293883C>TCA362323620NSD1c.5642C>T (p.Ala1881Val)
c.1157C>T (p.Ala386Val)
n.6098C>T
n.931C>T
c.6206C>T (p.Ala2069Val)
n.5912C>T
c.6515C>T (p.Ala2172Val)
c.5708C>T (p.Ala1903Val)
c.2009C>T (p.Ala670Val)
c.6095C>T (p.Ala2032Val)
c.5459C>T (p.Ala1820Val)
c.2249C>T (p.Ala750Val)
5g.177293884C>ACA447961292NSD1c.5643C>A (p.Ala1881=)
c.1158C>A (p.Ala386=)
n.6099C>A
n.932C>A
c.6207C>A (p.Ala2069=)
n.5913C>A
c.6516C>A (p.Ala2172=)
c.5709C>A (p.Ala1903=)
c.2010C>A (p.Ala670=)
c.6096C>A (p.Ala2032=)
c.5460C>A (p.Ala1820=)
c.2250C>A (p.Ala750=)
5g.177293884C>GCA447961294NSD1c.5643C>G (p.Ala1881=)
c.1158C>G (p.Ala386=)
n.6099C>G
n.932C>G
c.6207C>G (p.Ala2069=)
n.5913C>G
c.6516C>G (p.Ala2172=)
c.5709C>G (p.Ala1903=)
c.2010C>G (p.Ala670=)
c.6096C>G (p.Ala2032=)
c.5460C>G (p.Ala1820=)
c.2250C>G (p.Ala750=)
5g.177293884C>TCA447961293NSD1c.5643C>T (p.Ala1881=)
c.1158C>T (p.Ala386=)
n.6099C>T
n.932C>T
c.6207C>T (p.Ala2069=)
n.5913C>T
c.6516C>T (p.Ala2172=)
c.5709C>T (p.Ala1903=)
c.2010C>T (p.Ala670=)
c.6096C>T (p.Ala2032=)
c.5460C>T (p.Ala1820=)
c.2250C>T (p.Ala750=)
5g.177293885T>ACA362323627NSD1c.5644T>A (p.Ser1882Thr)
c.1159T>A (p.Ser387Thr)
n.6100T>A
n.933T>A
c.6208T>A (p.Ser2070Thr)
n.5914T>A
c.6517T>A (p.Ser2173Thr)
c.5710T>A (p.Ser1904Thr)
c.2011T>A (p.Ser671Thr)
c.6097T>A (p.Ser2033Thr)
c.5461T>A (p.Ser1821Thr)
c.2251T>A (p.Ser751Thr)
5g.177293885T>CCA362323633NSD1c.5644T>C (p.Ser1882Pro)
c.1159T>C (p.Ser387Pro)
n.6100T>C
n.933T>C
c.6208T>C (p.Ser2070Pro)
n.5914T>C
c.6517T>C (p.Ser2173Pro)
c.5710T>C (p.Ser1904Pro)
c.2011T>C (p.Ser671Pro)
c.6097T>C (p.Ser2033Pro)
c.5461T>C (p.Ser1821Pro)
c.2251T>C (p.Ser751Pro)
5g.177293885T>GCA362323630NSD1c.5644T>G (p.Ser1882Ala)
c.1159T>G (p.Ser387Ala)
n.6100T>G
n.933T>G
c.6208T>G (p.Ser2070Ala)
n.5914T>G
c.6517T>G (p.Ser2173Ala)
c.5710T>G (p.Ser1904Ala)
c.2011T>G (p.Ser671Ala)
c.6097T>G (p.Ser2033Ala)
c.5461T>G (p.Ser1821Ala)
c.2251T>G (p.Ser751Ala)
 gnomAD v4
5g.177293886C>ACA362323636NSD1c.5645C>A (p.Ser1882Tyr)
c.1160C>A (p.Ser387Tyr)
n.6101C>A
n.934C>A
c.6209C>A (p.Ser2070Tyr)
n.5915C>A
c.6518C>A (p.Ser2173Tyr)
c.5711C>A (p.Ser1904Tyr)
c.2012C>A (p.Ser671Tyr)
c.6098C>A (p.Ser2033Tyr)
c.5462C>A (p.Ser1821Tyr)
c.2252C>A (p.Ser751Tyr)
5g.177293886C>GCA362323638NSD1c.5645C>G (p.Ser1882Cys)
c.1160C>G (p.Ser387Cys)
n.6101C>G
n.934C>G
c.6209C>G (p.Ser2070Cys)
n.5915C>G
c.6518C>G (p.Ser2173Cys)
c.5711C>G (p.Ser1904Cys)
c.2012C>G (p.Ser671Cys)
c.6098C>G (p.Ser2033Cys)
c.5462C>G (p.Ser1821Cys)
c.2252C>G (p.Ser751Cys)
 dbSNP
5g.177293886C>TCA362323643NSD1c.5645C>T (p.Ser1882Phe)
c.1160C>T (p.Ser387Phe)
n.6101C>T
n.934C>T
c.6209C>T (p.Ser2070Phe)
n.5915C>T
c.6518C>T (p.Ser2173Phe)
c.5711C>T (p.Ser1904Phe)
c.2012C>T (p.Ser671Phe)
c.6098C>T (p.Ser2033Phe)
c.5462C>T (p.Ser1821Phe)
c.2252C>T (p.Ser751Phe)
5g.177293887dupCA2695205746NSD1c.5646dup (p.Phe1883LeufsTer3)
c.1161dup (p.Phe388LeufsTer3)
n.6102dup
n.935dup
c.6210dup (p.Phe2071LeufsTer3)
n.5916dup
c.6519dup (p.Phe2174LeufsTer3)
c.5712dup (p.Phe1905LeufsTer3)
c.2013dup (p.Phe672LeufsTer3)
c.6099dup (p.Phe2034LeufsTer3)
c.5463dup (p.Phe1822LeufsTer3)
c.2253dup (p.Phe752LeufsTer3)
5g.177293886_177293889delinsCCTTCA1603535401NSD1c.5645_5648delinsCCTT (p.Ser1882=)
c.1160_1163delinsCCTT (p.Ser387=)
n.6101_6104delinsCCTT
n.934_937delinsCCTT
c.6209_6212delinsCCTT (p.Ser2070=)
n.5915_5918delinsCCTT
c.6518_6521delinsCCTT (p.Ser2173=)
c.5711_5714delinsCCTT (p.Ser1904=)
c.2012_2015delinsCCTT (p.Ser671=)
c.6098_6101delinsCCTT (p.Ser2033=)
c.5462_5465delinsCCTT (p.Ser1821=)
c.2252_2255delinsCCTT (p.Ser751=)
5g.177293887C>ACA447961297NSD1c.5646C>A (p.Ser1882=)
c.1161C>A (p.Ser387=)
n.6102C>A
n.935C>A
c.6210C>A (p.Ser2070=)
n.5916C>A
c.6519C>A (p.Ser2173=)
c.5712C>A (p.Ser1904=)
c.2013C>A (p.Ser671=)
c.6099C>A (p.Ser2033=)
c.5463C>A (p.Ser1821=)
c.2253C>A (p.Ser751=)
5g.177293887C>GCA447961299NSD1c.5646C>G (p.Ser1882=)
c.1161C>G (p.Ser387=)
n.6102C>G
n.935C>G
c.6210C>G (p.Ser2070=)
n.5916C>G
c.6519C>G (p.Ser2173=)
c.5712C>G (p.Ser1904=)
c.2013C>G (p.Ser671=)
c.6099C>G (p.Ser2033=)
c.5463C>G (p.Ser1821=)
c.2253C>G (p.Ser751=)
5g.177293887C>TCA447961301NSD1c.5646C>T (p.Ser1882=)
c.1161C>T (p.Ser387=)
n.6102C>T
n.935C>T
c.6210C>T (p.Ser2070=)
n.5916C>T
c.6519C>T (p.Ser2173=)
c.5712C>T (p.Ser1904=)
c.2013C>T (p.Ser671=)
c.6099C>T (p.Ser2033=)
c.5463C>T (p.Ser1821=)
c.2253C>T (p.Ser751=)
5g.177293889_177293891delCA295095NSD1c.5648_5650del (p.Phe1883del)
c.1163_1165del (p.Phe388del)
n.6104_6106del
n.937_939del
c.6212_6214del (p.Phe2071del)
n.5918_5920del
c.6521_6523del (p.Phe2174del)
c.5714_5716del (p.Phe1905del)
c.2015_2017del (p.Phe672del)
c.6101_6103del (p.Phe2034del)
c.5465_5467del (p.Phe1822del)
c.2255_2257del (p.Phe752del)
 ClinVar dbSNP
5g.177293888T>ACA362323649NSD1c.5647T>A (p.Phe1883Ile)
c.1162T>A (p.Phe388Ile)
n.6103T>A
n.936T>A
c.6211T>A (p.Phe2071Ile)
n.5917T>A
c.6520T>A (p.Phe2174Ile)
c.5713T>A (p.Phe1905Ile)
c.2014T>A (p.Phe672Ile)
c.6100T>A (p.Phe2034Ile)
c.5464T>A (p.Phe1822Ile)
c.2254T>A (p.Phe752Ile)
5g.177293888T>CCA362323652NSD1c.5647T>C (p.Phe1883Leu)
c.1162T>C (p.Phe388Leu)
n.6103T>C
n.936T>C
c.6211T>C (p.Phe2071Leu)
n.5917T>C
c.6520T>C (p.Phe2174Leu)
c.5713T>C (p.Phe1905Leu)
c.2014T>C (p.Phe672Leu)
c.6100T>C (p.Phe2034Leu)
c.5464T>C (p.Phe1822Leu)
c.2254T>C (p.Phe752Leu)
5g.177293888T>GCA362323655NSD1c.5647T>G (p.Phe1883Val)
c.1162T>G (p.Phe388Val)
n.6103T>G
n.936T>G
c.6211T>G (p.Phe2071Val)
n.5917T>G
c.6520T>G (p.Phe2174Val)
c.5713T>G (p.Phe1905Val)
c.2014T>G (p.Phe672Val)
c.6100T>G (p.Phe2034Val)
c.5464T>G (p.Phe1822Val)
c.2254T>G (p.Phe752Val)
5g.177293889T>ACA362323661NSD1c.5648T>A (p.Phe1883Tyr)
c.1163T>A (p.Phe388Tyr)
n.6104T>A
n.937T>A
c.6212T>A (p.Phe2071Tyr)
n.5918T>A
c.6521T>A (p.Phe2174Tyr)
c.5714T>A (p.Phe1905Tyr)
c.2015T>A (p.Phe672Tyr)
c.6101T>A (p.Phe2034Tyr)
c.5465T>A (p.Phe1822Tyr)
c.2255T>A (p.Phe752Tyr)
5g.177293889T>CCA362323663NSD1c.5648T>C (p.Phe1883Ser)
c.1163T>C (p.Phe388Ser)
n.6104T>C
n.937T>C
c.6212T>C (p.Phe2071Ser)
n.5918T>C
c.6521T>C (p.Phe2174Ser)
c.5714T>C (p.Phe1905Ser)
c.2015T>C (p.Phe672Ser)
c.6101T>C (p.Phe2034Ser)
c.5465T>C (p.Phe1822Ser)
c.2255T>C (p.Phe752Ser)
 dbSNP gnomAD v4
5g.177293889T>GCA362323666NSD1c.5648T>G (p.Phe1883Cys)
c.1163T>G (p.Phe388Cys)
n.6104T>G
n.937T>G
c.6212T>G (p.Phe2071Cys)
n.5918T>G
c.6521T>G (p.Phe2174Cys)
c.5714T>G (p.Phe1905Cys)
c.2015T>G (p.Phe672Cys)
c.6101T>G (p.Phe2034Cys)
c.5465T>G (p.Phe1822Cys)
c.2255T>G (p.Phe752Cys)
5g.177293889T=CA1603535412NSD1c.5648T= (p.Phe1883=)
c.1163T= (p.Phe388=)
n.6104T=
n.937T=
c.6212T= (p.Phe2071=)
n.5918T=
c.6521T= (p.Phe2174=)
c.5714T= (p.Phe1905=)
c.2015T= (p.Phe672=)
c.6101T= (p.Phe2034=)
c.5465T= (p.Phe1822=)
c.2255T= (p.Phe752=)
5g.177293890C>ACA362323670NSD1c.5649C>A (p.Phe1883Leu)
c.1164C>A (p.Phe388Leu)
n.6105C>A
n.938C>A
c.6213C>A (p.Phe2071Leu)
n.5919C>A
c.6522C>A (p.Phe2174Leu)
c.5715C>A (p.Phe1905Leu)
c.2016C>A (p.Phe672Leu)
c.6102C>A (p.Phe2034Leu)
c.5466C>A (p.Phe1822Leu)
c.2256C>A (p.Phe752Leu)
5g.177293890C=CA1603535417NSD1c.5649C= (p.Phe1883=)
c.1164C= (p.Phe388=)
n.6105C=
n.938C=
c.6213C= (p.Phe2071=)
n.5919C=
c.6522C= (p.Phe2174=)
c.5715C= (p.Phe1905=)
c.2016C= (p.Phe672=)
c.6102C= (p.Phe2034=)
c.5466C= (p.Phe1822=)
c.2256C= (p.Phe752=)
5g.177293890C>GCA362323676NSD1c.5649C>G (p.Phe1883Leu)
c.1164C>G (p.Phe388Leu)
n.6105C>G
n.938C>G
c.6213C>G (p.Phe2071Leu)
n.5919C>G
c.6522C>G (p.Phe2174Leu)
c.5715C>G (p.Phe1905Leu)
c.2016C>G (p.Phe672Leu)
c.6102C>G (p.Phe2034Leu)
c.5466C>G (p.Phe1822Leu)
c.2256C>G (p.Phe752Leu)
5g.177293890C>TCA132862419NSD1c.5649C>T (p.Phe1883=)
c.1164C>T (p.Phe388=)
n.6105C>T
n.938C>T
c.6213C>T (p.Phe2071=)
n.5919C>T
c.6522C>T (p.Phe2174=)
c.5715C>T (p.Phe1905=)
c.2016C>T (p.Phe672=)
c.6102C>T (p.Phe2034=)
c.5466C>T (p.Phe1822=)
c.2256C>T (p.Phe752=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.177293891T>ACA362323679NSD1c.5650T>A (p.Cys1884Ser)
c.1165T>A (p.Cys389Ser)
n.6106T>A
n.939T>A
c.6214T>A (p.Cys2072Ser)
n.5920T>A
c.6523T>A (p.Cys2175Ser)
c.5716T>A (p.Cys1906Ser)
c.2017T>A (p.Cys673Ser)
c.6103T>A (p.Cys2035Ser)
c.5467T>A (p.Cys1823Ser)
c.2257T>A (p.Cys753Ser)
5g.177293891T>CCA362323686NSD1c.5650T>C (p.Cys1884Arg)
c.1165T>C (p.Cys389Arg)
n.6106T>C
n.939T>C
c.6214T>C (p.Cys2072Arg)
n.5920T>C
c.6523T>C (p.Cys2175Arg)
c.5716T>C (p.Cys1906Arg)
c.2017T>C (p.Cys673Arg)
c.6103T>C (p.Cys2035Arg)
c.5467T>C (p.Cys1823Arg)
c.2257T>C (p.Cys753Arg)
5g.177293891T>GCA362323684NSD1c.5650T>G (p.Cys1884Gly)
c.1165T>G (p.Cys389Gly)
n.6106T>G
n.939T>G
c.6214T>G (p.Cys2072Gly)
n.5920T>G
c.6523T>G (p.Cys2175Gly)
c.5716T>G (p.Cys1906Gly)
c.2017T>G (p.Cys673Gly)
c.6103T>G (p.Cys2035Gly)
c.5467T>G (p.Cys1823Gly)
c.2257T>G (p.Cys753Gly)
5g.177293892G>ACA362323691NSD1c.5651G>A (p.Cys1884Tyr)
c.1166G>A (p.Cys389Tyr)
n.6107G>A
n.940G>A
c.6215G>A (p.Cys2072Tyr)
n.5921G>A
c.6524G>A (p.Cys2175Tyr)
c.5717G>A (p.Cys1906Tyr)
c.2018G>A (p.Cys673Tyr)
c.6104G>A (p.Cys2035Tyr)
c.5468G>A (p.Cys1823Tyr)
c.2258G>A (p.Cys753Tyr)
 ClinVar dbSNP
5g.177293892G>CCA362323692NSD1c.5651G>C (p.Cys1884Ser)
c.1166G>C (p.Cys389Ser)
n.6107G>C
n.940G>C
c.6215G>C (p.Cys2072Ser)
n.5921G>C
c.6524G>C (p.Cys2175Ser)
c.5717G>C (p.Cys1906Ser)
c.2018G>C (p.Cys673Ser)
c.6104G>C (p.Cys2035Ser)
c.5468G>C (p.Cys1823Ser)
c.2258G>C (p.Cys753Ser)
5g.177293892G=CA1603535422NSD1c.5651G= (p.Cys1884=)
c.1166G= (p.Cys389=)
n.6107G=
n.940G=
c.6215G= (p.Cys2072=)
n.5921G=
c.6524G= (p.Cys2175=)
c.5717G= (p.Cys1906=)
c.2018G= (p.Cys673=)
c.6104G= (p.Cys2035=)
c.5468G= (p.Cys1823=)
c.2258G= (p.Cys753=)
5g.177293892G>TCA362323695NSD1c.5651G>T (p.Cys1884Phe)
c.1166G>T (p.Cys389Phe)
n.6107G>T
n.940G>T
c.6215G>T (p.Cys2072Phe)
n.5921G>T
c.6524G>T (p.Cys2175Phe)
c.5717G>T (p.Cys1906Phe)
c.2018G>T (p.Cys673Phe)
c.6104G>T (p.Cys2035Phe)
c.5468G>T (p.Cys1823Phe)
c.2258G>T (p.Cys753Phe)
 ClinVar dbSNP
5g.177293893T>ACA362323697NSD1c.5652T>A (p.Cys1884Ter)
c.1167T>A (p.Cys389Ter)
n.6108T>A
n.941T>A
c.6216T>A (p.Cys2072Ter)
n.5922T>A
c.6525T>A (p.Cys2175Ter)
c.5718T>A (p.Cys1906Ter)
c.2019T>A (p.Cys673Ter)
c.6105T>A (p.Cys2035Ter)
c.5469T>A (p.Cys1823Ter)
c.2259T>A (p.Cys753Ter)
5g.177293893T>CCA447961307NSD1c.5652T>C (p.Cys1884=)
c.1167T>C (p.Cys389=)
n.6108T>C
n.941T>C
c.6216T>C (p.Cys2072=)
n.5922T>C
c.6525T>C (p.Cys2175=)
c.5718T>C (p.Cys1906=)
c.2019T>C (p.Cys673=)
c.6105T>C (p.Cys2035=)
c.5469T>C (p.Cys1823=)
c.2259T>C (p.Cys753=)
5g.177293893T>GCA362323700NSD1c.5652T>G (p.Cys1884Trp)
c.1167T>G (p.Cys389Trp)
n.6108T>G
n.941T>G
c.6216T>G (p.Cys2072Trp)
n.5922T>G
c.6525T>G (p.Cys2175Trp)
c.5718T>G (p.Cys1906Trp)
c.2019T>G (p.Cys673Trp)
c.6105T>G (p.Cys2035Trp)
c.5469T>G (p.Cys1823Trp)
c.2259T>G (p.Cys753Trp)
 gnomAD v4
5g.177293894G>ACA362323706NSD1c.5653G>A (p.Glu1885Lys)
c.1168G>A (p.Glu390Lys)
n.6109G>A
n.942G>A
c.6217G>A (p.Glu2073Lys)
n.5923G>A
c.6526G>A (p.Glu2176Lys)
c.5719G>A (p.Glu1907Lys)
c.2020G>A (p.Glu674Lys)
c.6106G>A (p.Glu2036Lys)
c.5470G>A (p.Glu1824Lys)
c.2260G>A (p.Glu754Lys)
5g.177293894G>CCA362323708NSD1c.5653G>C (p.Glu1885Gln)
c.1168G>C (p.Glu390Gln)
n.6109G>C
n.942G>C
c.6217G>C (p.Glu2073Gln)
n.5923G>C
c.6526G>C (p.Glu2176Gln)
c.5719G>C (p.Glu1907Gln)
c.2020G>C (p.Glu674Gln)
c.6106G>C (p.Glu2036Gln)
c.5470G>C (p.Glu1824Gln)
c.2260G>C (p.Glu754Gln)
5g.177293894G>TCA362323711NSD1c.5653G>T (p.Glu1885Ter)
c.1168G>T (p.Glu390Ter)
n.6109G>T
n.942G>T
c.6217G>T (p.Glu2073Ter)
n.5923G>T
c.6526G>T (p.Glu2176Ter)
c.5719G>T (p.Glu1907Ter)
c.2020G>T (p.Glu674Ter)
c.6106G>T (p.Glu2036Ter)
c.5470G>T (p.Glu1824Ter)
c.2260G>T (p.Glu754Ter)
5g.177293895A>CCA362323715NSD1c.5654A>C (p.Glu1885Ala)
c.1169A>C (p.Glu390Ala)
n.6110A>C
n.943A>C
c.6218A>C (p.Glu2073Ala)
n.5924A>C
c.6527A>C (p.Glu2176Ala)
c.5720A>C (p.Glu1907Ala)
c.2021A>C (p.Glu674Ala)
c.6107A>C (p.Glu2036Ala)
c.5471A>C (p.Glu1824Ala)
c.2261A>C (p.Glu754Ala)
5g.177293895A>GCA362323717NSD1c.5654A>G (p.Glu1885Gly)
c.1169A>G (p.Glu390Gly)
n.6110A>G
n.943A>G
c.6218A>G (p.Glu2073Gly)
n.5924A>G
c.6527A>G (p.Glu2176Gly)
c.5720A>G (p.Glu1907Gly)
c.2021A>G (p.Glu674Gly)
c.6107A>G (p.Glu2036Gly)
c.5471A>G (p.Glu1824Gly)
c.2261A>G (p.Glu754Gly)
 dbSNP
5g.177293895A>TCA362323720NSD1c.5654A>T (p.Glu1885Val)
c.1169A>T (p.Glu390Val)
n.6110A>T
n.943A>T
c.6218A>T (p.Glu2073Val)
n.5924A>T
c.6527A>T (p.Glu2176Val)
c.5720A>T (p.Glu1907Val)
c.2021A>T (p.Glu674Val)
c.6107A>T (p.Glu2036Val)
c.5471A>T (p.Glu1824Val)
c.2261A>T (p.Glu754Val)
5g.177293896G>ACA447961309NSD1c.5655G>A (p.Glu1885=)
c.1170G>A (p.Glu390=)
n.6111G>A
n.944G>A
c.6219G>A (p.Glu2073=)
n.5925G>A
c.6528G>A (p.Glu2176=)
c.5721G>A (p.Glu1907=)
c.2022G>A (p.Glu674=)
c.6108G>A (p.Glu2036=)
c.5472G>A (p.Glu1824=)
c.2262G>A (p.Glu754=)
 gnomAD v4
5g.177293896G>CCA362323722NSD1c.5655G>C (p.Glu1885Asp)
c.1170G>C (p.Glu390Asp)
n.6111G>C
n.944G>C
c.6219G>C (p.Glu2073Asp)
n.5925G>C
c.6528G>C (p.Glu2176Asp)
c.5721G>C (p.Glu1907Asp)
c.2022G>C (p.Glu674Asp)
c.6108G>C (p.Glu2036Asp)
c.5472G>C (p.Glu1824Asp)
c.2262G>C (p.Glu754Asp)
5g.177293896G>TCA362323725NSD1c.5655G>T (p.Glu1885Asp)
c.1170G>T (p.Glu390Asp)
n.6111G>T
n.944G>T
c.6219G>T (p.Glu2073Asp)
n.5925G>T
c.6528G>T (p.Glu2176Asp)
c.5721G>T (p.Glu1907Asp)
c.2022G>T (p.Glu674Asp)
c.6108G>T (p.Glu2036Asp)
c.5472G>T (p.Glu1824Asp)
c.2262G>T (p.Glu754Asp)
5g.177293897A>CCA362323729NSD1c.5656A>C (p.Met1886Leu)
c.1171A>C (p.Met391Leu)
n.6112A>C
n.945A>C
c.6220A>C (p.Met2074Leu)
n.5926A>C
c.6529A>C (p.Met2177Leu)
c.5722A>C (p.Met1908Leu)
c.2023A>C (p.Met675Leu)
c.6109A>C (p.Met2037Leu)
c.5473A>C (p.Met1825Leu)
c.2263A>C (p.Met755Leu)
5g.177293897A>GCA362323731NSD1c.5656A>G (p.Met1886Val)
c.1171A>G (p.Met391Val)
n.6112A>G
n.945A>G
c.6220A>G (p.Met2074Val)
n.5926A>G
c.6529A>G (p.Met2177Val)
c.5722A>G (p.Met1908Val)
c.2023A>G (p.Met675Val)
c.6109A>G (p.Met2037Val)
c.5473A>G (p.Met1825Val)
c.2263A>G (p.Met755Val)
5g.177293897A>TCA362323734NSD1c.5656A>T (p.Met1886Leu)
c.1171A>T (p.Met391Leu)
n.6112A>T
n.945A>T
c.6220A>T (p.Met2074Leu)
n.5926A>T
c.6529A>T (p.Met2177Leu)
c.5722A>T (p.Met1908Leu)
c.2023A>T (p.Met675Leu)
c.6109A>T (p.Met2037Leu)
c.5473A>T (p.Met1825Leu)
c.2263A>T (p.Met755Leu)
 gnomAD v4
5g.177293898T>ACA362323739NSD1c.5657T>A (p.Met1886Lys)
c.1172T>A (p.Met391Lys)
n.6113T>A
n.946T>A
c.6221T>A (p.Met2074Lys)
n.5927T>A
c.6530T>A (p.Met2177Lys)
c.5723T>A (p.Met1908Lys)
c.2024T>A (p.Met675Lys)
c.6110T>A (p.Met2037Lys)
c.5474T>A (p.Met1825Lys)
c.2264T>A (p.Met755Lys)
5g.177293898T>CCA362323741NSD1c.5657T>C (p.Met1886Thr)
c.1172T>C (p.Met391Thr)
n.6113T>C
n.946T>C
c.6221T>C (p.Met2074Thr)
n.5927T>C
c.6530T>C (p.Met2177Thr)
c.5723T>C (p.Met1908Thr)
c.2024T>C (p.Met675Thr)
c.6110T>C (p.Met2037Thr)
c.5474T>C (p.Met1825Thr)
c.2264T>C (p.Met755Thr)
5g.177293898T>GCA362323744NSD1c.5657T>G (p.Met1886Arg)
c.1172T>G (p.Met391Arg)
n.6113T>G
n.946T>G
c.6221T>G (p.Met2074Arg)
n.5927T>G
c.6530T>G (p.Met2177Arg)
c.5723T>G (p.Met1908Arg)
c.2024T>G (p.Met675Arg)
c.6110T>G (p.Met2037Arg)
c.5474T>G (p.Met1825Arg)
c.2264T>G (p.Met755Arg)
5g.177293899G>ACA362323748NSD1c.5658G>A (p.Met1886Ile)
c.1173G>A (p.Met391Ile)
n.6114G>A
n.947G>A
c.6222G>A (p.Met2074Ile)
n.5928G>A
c.6531G>A (p.Met2177Ile)
c.5724G>A (p.Met1908Ile)
c.2025G>A (p.Met675Ile)
c.6111G>A (p.Met2037Ile)
c.5475G>A (p.Met1825Ile)
c.2265G>A (p.Met755Ile)
5g.177293899G>CCA362323751NSD1c.5658G>C (p.Met1886Ile)
c.1173G>C (p.Met391Ile)
n.6114G>C
n.947G>C
c.6222G>C (p.Met2074Ile)
n.5928G>C
c.6531G>C (p.Met2177Ile)
c.5724G>C (p.Met1908Ile)
c.2025G>C (p.Met675Ile)
c.6111G>C (p.Met2037Ile)
c.5475G>C (p.Met1825Ile)
c.2265G>C (p.Met755Ile)
5g.177293899G>TCA362323753NSD1c.5658G>T (p.Met1886Ile)
c.1173G>T (p.Met391Ile)
n.6114G>T
n.947G>T
c.6222G>T (p.Met2074Ile)
n.5928G>T
c.6531G>T (p.Met2177Ile)
c.5724G>T (p.Met1908Ile)
c.2025G>T (p.Met675Ile)
c.6111G>T (p.Met2037Ile)
c.5475G>T (p.Met1825Ile)
c.2265G>T (p.Met755Ile)
5g.177293900T>ACA362323757NSD1c.5659T>A (p.Cys1887Ser)
c.1174T>A (p.Cys392Ser)
n.6115T>A
n.948T>A
c.6223T>A (p.Cys2075Ser)
n.5929T>A
c.6532T>A (p.Cys2178Ser)
c.5725T>A (p.Cys1909Ser)
c.2026T>A (p.Cys676Ser)
c.6112T>A (p.Cys2038Ser)
c.5476T>A (p.Cys1826Ser)
c.2266T>A (p.Cys756Ser)
5g.177293900T>CCA362323759NSD1c.5659T>C (p.Cys1887Arg)
c.1174T>C (p.Cys392Arg)
n.6115T>C
n.948T>C
c.6223T>C (p.Cys2075Arg)
n.5929T>C
c.6532T>C (p.Cys2178Arg)
c.5725T>C (p.Cys1909Arg)
c.2026T>C (p.Cys676Arg)
c.6112T>C (p.Cys2038Arg)
c.5476T>C (p.Cys1826Arg)
c.2266T>C (p.Cys756Arg)
 ClinVar dbSNP
5g.177293900T>GCA362323762NSD1c.5659T>G (p.Cys1887Gly)
c.1174T>G (p.Cys392Gly)
n.6115T>G
n.948T>G
c.6223T>G (p.Cys2075Gly)
n.5929T>G
c.6532T>G (p.Cys2178Gly)
c.5725T>G (p.Cys1909Gly)
c.2026T>G (p.Cys676Gly)
c.6112T>G (p.Cys2038Gly)
c.5476T>G (p.Cys1826Gly)
c.2266T>G (p.Cys756Gly)
 dbSNP
5g.177293901_177293909delCA2695205749NSD1c.5660_5668del (p.Cys1887_Ser1889del)
c.1175_1183del (p.Cys392_Ser394del)
n.6116_6124del
n.949_957del
c.6224_6232del (p.Cys2075_Ser2077del)
n.5930_5938del
c.6533_6541del (p.Cys2178_Ser2180del)
c.5726_5734del (p.Cys1909_Ser1911del)
c.2027_2035del (p.Cys676_Ser678del)
c.6113_6121del (p.Cys2038_Ser2040del)
c.5477_5485del (p.Cys1826_Ser1828del)
c.2267_2275del (p.Cys756_Ser758del)
5g.177293901G>ACA223696NSD1c.5660G>A (p.Cys1887Tyr)
c.1175G>A (p.Cys392Tyr)
n.6116G>A
n.949G>A
c.6224G>A (p.Cys2075Tyr)
n.5930G>A
c.6533G>A (p.Cys2178Tyr)
c.5726G>A (p.Cys1909Tyr)
c.2027G>A (p.Cys676Tyr)
c.6113G>A (p.Cys2038Tyr)
c.5477G>A (p.Cys1826Tyr)
c.2267G>A (p.Cys756Tyr)
 ClinVar dbSNP
5g.177293901G>CCA362323766NSD1c.5660G>C (p.Cys1887Ser)
c.1175G>C (p.Cys392Ser)
n.6116G>C
n.949G>C
c.6224G>C (p.Cys2075Ser)
n.5930G>C
c.6533G>C (p.Cys2178Ser)
c.5726G>C (p.Cys1909Ser)
c.2027G>C (p.Cys676Ser)
c.6113G>C (p.Cys2038Ser)
c.5477G>C (p.Cys1826Ser)
c.2267G>C (p.Cys756Ser)
5g.177293901G=CA1603535427NSD1c.5660G= (p.Cys1887=)
c.1175G= (p.Cys392=)
n.6116G=
n.949G=
c.6224G= (p.Cys2075=)
n.5930G=
c.6533G= (p.Cys2178=)
c.5726G= (p.Cys1909=)
c.2027G= (p.Cys676=)
c.6113G= (p.Cys2038=)
c.5477G= (p.Cys1826=)
c.2267G= (p.Cys756=)
5g.177293901G>TCA362323764NSD1c.5660G>T (p.Cys1887Phe)
c.1175G>T (p.Cys392Phe)
n.6116G>T
n.949G>T
c.6224G>T (p.Cys2075Phe)
n.5930G>T
c.6533G>T (p.Cys2178Phe)
c.5726G>T (p.Cys1909Phe)
c.2027G>T (p.Cys676Phe)
c.6113G>T (p.Cys2038Phe)
c.5477G>T (p.Cys1826Phe)
c.2267G>T (p.Cys756Phe)
 ClinVar dbSNP
5g.177293902C>ACA362323779NSD1c.5661C>A (p.Cys1887Ter)
c.1176C>A (p.Cys392Ter)
n.6117C>A
n.950C>A
c.6225C>A (p.Cys2075Ter)
n.5931C>A
c.6534C>A (p.Cys2178Ter)
c.5727C>A (p.Cys1909Ter)
c.2028C>A (p.Cys676Ter)
c.6114C>A (p.Cys2038Ter)
c.5478C>A (p.Cys1826Ter)
c.2268C>A (p.Cys756Ter)
5g.177293902C>GCA362323781NSD1c.5661C>G (p.Cys1887Trp)
c.1176C>G (p.Cys392Trp)
n.6117C>G
n.950C>G
c.6225C>G (p.Cys2075Trp)
n.5931C>G
c.6534C>G (p.Cys2178Trp)
c.5727C>G (p.Cys1909Trp)
c.2028C>G (p.Cys676Trp)
c.6114C>G (p.Cys2038Trp)
c.5478C>G (p.Cys1826Trp)
c.2268C>G (p.Cys756Trp)
5g.177293902C>TCA447961328NSD1c.5661C>T (p.Cys1887=)
c.1176C>T (p.Cys392=)
n.6117C>T
n.950C>T
c.6225C>T (p.Cys2075=)
n.5931C>T
c.6534C>T (p.Cys2178=)
c.5727C>T (p.Cys1909=)
c.2028C>T (p.Cys676=)
c.6114C>T (p.Cys2038=)
c.5478C>T (p.Cys1826=)
c.2268C>T (p.Cys756=)
 dbSNP gnomAD v4
5g.177293905dupCA10584082NSD1c.5664dup (p.Ser1889GlnfsTer5)
c.1179dup (p.Ser394GlnfsTer5)
n.6120dup
n.953dup
c.6228dup (p.Ser2077GlnfsTer5)
n.5934dup
c.6537dup (p.Ser2180GlnfsTer5)
c.5730dup (p.Ser1911GlnfsTer5)
c.2031dup (p.Ser678GlnfsTer5)
c.6117dup (p.Ser2040GlnfsTer5)
c.5481dup (p.Ser1828GlnfsTer5)
c.2271dup (p.Ser758GlnfsTer5)
 ClinVar dbSNP
5g.177293903C>ACA362323786NSD1c.5662C>A (p.Pro1888Thr)
c.1177C>A (p.Pro393Thr)
n.6118C>A
n.951C>A
c.6226C>A (p.Pro2076Thr)
n.5932C>A
c.6535C>A (p.Pro2179Thr)
c.5728C>A (p.Pro1910Thr)
c.2029C>A (p.Pro677Thr)
c.6115C>A (p.Pro2039Thr)
c.5479C>A (p.Pro1827Thr)
c.2269C>A (p.Pro757Thr)
5g.177293903C>GCA362323788NSD1c.5662C>G (p.Pro1888Ala)
c.1177C>G (p.Pro393Ala)
n.6118C>G
n.951C>G
c.6226C>G (p.Pro2076Ala)
n.5932C>G
c.6535C>G (p.Pro2179Ala)
c.5728C>G (p.Pro1910Ala)
c.2029C>G (p.Pro677Ala)
c.6115C>G (p.Pro2039Ala)
c.5479C>G (p.Pro1827Ala)
c.2269C>G (p.Pro757Ala)
5g.177293903C>TCA362323790NSD1c.5662C>T (p.Pro1888Ser)
c.1177C>T (p.Pro393Ser)
n.6118C>T
n.951C>T
c.6226C>T (p.Pro2076Ser)
n.5932C>T
c.6535C>T (p.Pro2179Ser)
c.5728C>T (p.Pro1910Ser)
c.2029C>T (p.Pro677Ser)
c.6115C>T (p.Pro2039Ser)
c.5479C>T (p.Pro1827Ser)
c.2269C>T (p.Pro757Ser)
5g.177293904C>ACA362323795NSD1c.5663C>A (p.Pro1888His)
c.1178C>A (p.Pro393His)
n.6119C>A
n.952C>A
c.6227C>A (p.Pro2076His)
n.5933C>A
c.6536C>A (p.Pro2179His)
c.5729C>A (p.Pro1910His)
c.2030C>A (p.Pro677His)
c.6116C>A (p.Pro2039His)
c.5480C>A (p.Pro1827His)
c.2270C>A (p.Pro757His)
5g.177293904C>GCA362323800NSD1c.5663C>G (p.Pro1888Arg)
c.1178C>G (p.Pro393Arg)
n.6119C>G
n.952C>G
c.6227C>G (p.Pro2076Arg)
n.5933C>G
c.6536C>G (p.Pro2179Arg)
c.5729C>G (p.Pro1910Arg)
c.2030C>G (p.Pro677Arg)
c.6116C>G (p.Pro2039Arg)
c.5480C>G (p.Pro1827Arg)
c.2270C>G (p.Pro757Arg)
5g.177293904C>TCA362323803NSD1c.5663C>T (p.Pro1888Leu)
c.1178C>T (p.Pro393Leu)
n.6119C>T
n.952C>T
c.6227C>T (p.Pro2076Leu)
n.5933C>T
c.6536C>T (p.Pro2179Leu)
c.5729C>T (p.Pro1910Leu)
c.2030C>T (p.Pro677Leu)
c.6116C>T (p.Pro2039Leu)
c.5480C>T (p.Pro1827Leu)
c.2270C>T (p.Pro757Leu)
5g.177293904_177293923delinsCCAGCTCCTTTTGTAAGCAGCA1603535436NSD1c.5663_5682delinsCCAGCTCCTTTTGTAAGCAG (p.Pro1888=)
c.1178_1197delinsCCAGCTCCTTTTGTAAGCAG (p.Pro393=)
n.6119_6138delinsCCAGCTCCTTTTGTAAGCAG
n.952_971delinsCCAGCTCCTTTTGTAAGCAG
c.6227_6246delinsCCAGCTCCTTTTGTAAGCAG (p.Pro2076=)
n.5933_5952delinsCCAGCTCCTTTTGTAAGCAG
c.6536_6555delinsCCAGCTCCTTTTGTAAGCAG (p.Pro2179=)
c.5729_5748delinsCCAGCTCCTTTTGTAAGCAG (p.Pro1910=)
c.2030_2049delinsCCAGCTCCTTTTGTAAGCAG (p.Pro677=)
c.6116_6135delinsCCAGCTCCTTTTGTAAGCAG (p.Pro2039=)
c.5480_5499delinsCCAGCTCCTTTTGTAAGCAG (p.Pro1827=)
c.2270_2289delinsCCAGCTCCTTTTGTAAGCAG (p.Pro757=)
5g.177293905C>ACA447961331NSD1c.5664C>A (p.Pro1888=)
c.1179C>A (p.Pro393=)
n.6120C>A
n.953C>A
c.6228C>A (p.Pro2076=)
n.5934C>A
c.6537C>A (p.Pro2179=)
c.5730C>A (p.Pro1910=)
c.2031C>A (p.Pro677=)
c.6117C>A (p.Pro2039=)
c.5481C>A (p.Pro1827=)
c.2271C>A (p.Pro757=)
5g.177293905C>GCA447961332NSD1c.5664C>G (p.Pro1888=)
c.1179C>G (p.Pro393=)
n.6120C>G
n.953C>G
c.6228C>G (p.Pro2076=)
n.5934C>G
c.6537C>G (p.Pro2179=)
c.5730C>G (p.Pro1910=)
c.2031C>G (p.Pro677=)
c.6117C>G (p.Pro2039=)
c.5481C>G (p.Pro1827=)
c.2271C>G (p.Pro757=)
5g.177293905C>TCA447961334NSD1c.5664C>T (p.Pro1888=)
c.1179C>T (p.Pro393=)
n.6120C>T
n.953C>T
c.6228C>T (p.Pro2076=)
n.5934C>T
c.6537C>T (p.Pro2179=)
c.5730C>T (p.Pro1910=)
c.2031C>T (p.Pro677=)
c.6117C>T (p.Pro2039=)
c.5481C>T (p.Pro1827=)
c.2271C>T (p.Pro757=)
 gnomAD v4
5g.177293907_177293925delCA295098NSD1c.5666_5684del (p.Ser1889IlefsTer?)
c.1181_1199del (p.Ser394IlefsTer?)
n.6122_6140del
n.955_973del
c.6230_6248del (p.Ser2077IlefsTer?)
n.5936_5954del
c.6539_6557del (p.Ser2180IlefsTer?)
c.5732_5750del (p.Ser1911IlefsTer?)
c.2033_2051del (p.Ser678IlefsTer?)
c.6119_6137del (p.Ser2040IlefsTer?)
c.5483_5501del (p.Ser1828IlefsTer?)
c.2273_2291del (p.Ser758IlefsTer?)
 ClinVar dbSNP
5g.177293906A=CA1603535442NSD1c.5665A= (p.Ser1889=)
c.1180A= (p.Ser394=)
n.6121A=
n.954A=
c.6229A= (p.Ser2077=)
n.5935A=
c.6538A= (p.Ser2180=)
c.5731A= (p.Ser1911=)
c.2032A= (p.Ser678=)
c.6118A= (p.Ser2040=)
c.5482A= (p.Ser1828=)
c.2272A= (p.Ser758=)
5g.177293906A>CCA362323809NSD1c.5665A>C (p.Ser1889Arg)
c.1180A>C (p.Ser394Arg)
n.6121A>C
n.954A>C
c.6229A>C (p.Ser2077Arg)
n.5935A>C
c.6538A>C (p.Ser2180Arg)
c.5731A>C (p.Ser1911Arg)
c.2032A>C (p.Ser678Arg)
c.6118A>C (p.Ser2040Arg)
c.5482A>C (p.Ser1828Arg)
c.2272A>C (p.Ser758Arg)
5g.177293906A>GCA3578020NSD1c.5665A>G (p.Ser1889Gly)
c.1180A>G (p.Ser394Gly)
n.6121A>G
n.954A>G
c.6229A>G (p.Ser2077Gly)
n.5935A>G
c.6538A>G (p.Ser2180Gly)
c.5731A>G (p.Ser1911Gly)
c.2032A>G (p.Ser678Gly)
c.6118A>G (p.Ser2040Gly)
c.5482A>G (p.Ser1828Gly)
c.2272A>G (p.Ser758Gly)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.177293906A>TCA362323812NSD1c.5665A>T (p.Ser1889Cys)
c.1180A>T (p.Ser394Cys)
n.6121A>T
n.954A>T
c.6229A>T (p.Ser2077Cys)
n.5935A>T
c.6538A>T (p.Ser2180Cys)
c.5731A>T (p.Ser1911Cys)
c.2032A>T (p.Ser678Cys)
c.6118A>T (p.Ser2040Cys)
c.5482A>T (p.Ser1828Cys)
c.2272A>T (p.Ser758Cys)
5g.177293906_177293907insCCA223699NSD1c.5665_5666insC (p.Ser1889ThrfsTer5)
c.1180_1181insC (p.Ser394ThrfsTer5)
n.6121_6122insC
n.954_955insC
c.6229_6230insC (p.Ser2077ThrfsTer5)
n.5935_5936insC
c.6538_6539insC (p.Ser2180ThrfsTer5)
c.5731_5732insC (p.Ser1911ThrfsTer5)
c.2032_2033insC (p.Ser678ThrfsTer5)
c.6118_6119insC (p.Ser2040ThrfsTer5)
c.5482_5483insC (p.Ser1828ThrfsTer5)
c.2272_2273insC (p.Ser758ThrfsTer5)
 ClinVar dbSNP
5g.177293907G>ACA362323818NSD1c.5666G>A (p.Ser1889Asn)
c.1181G>A (p.Ser394Asn)
n.6122G>A
n.955G>A
c.6230G>A (p.Ser2077Asn)
n.5936G>A
c.6539G>A (p.Ser2180Asn)
c.5732G>A (p.Ser1911Asn)
c.2033G>A (p.Ser678Asn)
c.6119G>A (p.Ser2040Asn)
c.5483G>A (p.Ser1828Asn)
c.2273G>A (p.Ser758Asn)
 dbSNP
5g.177293907G>CCA362323821NSD1c.5666G>C (p.Ser1889Thr)
c.1181G>C (p.Ser394Thr)
n.6122G>C
n.955G>C
c.6230G>C (p.Ser2077Thr)
n.5936G>C
c.6539G>C (p.Ser2180Thr)
c.5732G>C (p.Ser1911Thr)
c.2033G>C (p.Ser678Thr)
c.6119G>C (p.Ser2040Thr)
c.5483G>C (p.Ser1828Thr)
c.2273G>C (p.Ser758Thr)
 gnomAD v4
5g.177293907G=CA1603535447NSD1c.5666G= (p.Ser1889=)
c.1181G= (p.Ser394=)
n.6122G=
n.955G=
c.6230G= (p.Ser2077=)
n.5936G=
c.6539G= (p.Ser2180=)
c.5732G= (p.Ser1911=)
c.2033G= (p.Ser678=)
c.6119G= (p.Ser2040=)
c.5483G= (p.Ser1828=)
c.2273G= (p.Ser758=)
5g.177293907G>TCA362323814NSD1c.5666G>T (p.Ser1889Ile)
c.1181G>T (p.Ser394Ile)
n.6122G>T
n.955G>T
c.6230G>T (p.Ser2077Ile)
n.5936G>T
c.6539G>T (p.Ser2180Ile)
c.5732G>T (p.Ser1911Ile)
c.2033G>T (p.Ser678Ile)
c.6119G>T (p.Ser2040Ile)
c.5483G>T (p.Ser1828Ile)
c.2273G>T (p.Ser758Ile)
5g.177293908C>ACA362323826NSD1c.5667C>A (p.Ser1889Arg)
c.1182C>A (p.Ser394Arg)
n.6123C>A
n.956C>A
c.6231C>A (p.Ser2077Arg)
n.5937C>A
c.6540C>A (p.Ser2180Arg)
c.5733C>A (p.Ser1911Arg)
c.2034C>A (p.Ser678Arg)
c.6120C>A (p.Ser2040Arg)
c.5484C>A (p.Ser1828Arg)
c.2274C>A (p.Ser758Arg)
5g.177293908C>GCA362323824NSD1c.5667C>G (p.Ser1889Arg)
c.1182C>G (p.Ser394Arg)
n.6123C>G
n.956C>G
c.6231C>G (p.Ser2077Arg)
n.5937C>G
c.6540C>G (p.Ser2180Arg)
c.5733C>G (p.Ser1911Arg)
c.2034C>G (p.Ser678Arg)
c.6120C>G (p.Ser2040Arg)
c.5484C>G (p.Ser1828Arg)
c.2274C>G (p.Ser758Arg)
5g.177293908C>TCA447961344NSD1c.5667C>T (p.Ser1889=)
c.1182C>T (p.Ser394=)
n.6123C>T
n.956C>T
c.6231C>T (p.Ser2077=)
n.5937C>T
c.6540C>T (p.Ser2180=)
c.5733C>T (p.Ser1911=)
c.2034C>T (p.Ser678=)
c.6120C>T (p.Ser2040=)
c.5484C>T (p.Ser1828=)
c.2274C>T (p.Ser758=)
 dbSNP
5g.177293910_177293912dupCA319710NSD1c.5669_5671dup (p.Ser1890_Phe1891insSer)
c.1184_1186dup (p.Ser395_Phe396insSer)
n.6125_6127dup
n.958_960dup
c.6233_6235dup (p.Ser2078_Phe2079insSer)
n.5939_5941dup
c.6542_6544dup (p.Ser2181_Phe2182insSer)
c.5735_5737dup (p.Ser1912_Phe1913insSer)
c.2036_2038dup (p.Ser679_Phe680insSer)
c.6122_6124dup (p.Ser2041_Phe2042insSer)
c.5486_5488dup (p.Ser1829_Phe1830insSer)
c.2276_2278dup (p.Ser759_Phe760insSer)
 ClinVar dbSNP
5g.177293909T>ACA362323835NSD1c.5668T>A (p.Ser1890Thr)
c.1183T>A (p.Ser395Thr)
n.6124T>A
n.957T>A
c.6232T>A (p.Ser2078Thr)
n.5938T>A
c.6541T>A (p.Ser2181Thr)
c.5734T>A (p.Ser1912Thr)
c.2035T>A (p.Ser679Thr)
c.6121T>A (p.Ser2041Thr)
c.5485T>A (p.Ser1829Thr)
c.2275T>A (p.Ser759Thr)
 gnomAD v4
5g.177293909T>CCA362323838NSD1c.5668T>C (p.Ser1890Pro)
c.1183T>C (p.Ser395Pro)
n.6124T>C
n.957T>C
c.6232T>C (p.Ser2078Pro)
n.5938T>C
c.6541T>C (p.Ser2181Pro)
c.5734T>C (p.Ser1912Pro)
c.2035T>C (p.Ser679Pro)
c.6121T>C (p.Ser2041Pro)
c.5485T>C (p.Ser1829Pro)
c.2275T>C (p.Ser759Pro)
5g.177293909T>GCA362323833NSD1c.5668T>G (p.Ser1890Ala)
c.1183T>G (p.Ser395Ala)
n.6124T>G
n.957T>G
c.6232T>G (p.Ser2078Ala)
n.5938T>G
c.6541T>G (p.Ser2181Ala)
c.5734T>G (p.Ser1912Ala)
c.2035T>G (p.Ser679Ala)
c.6121T>G (p.Ser2041Ala)
c.5485T>G (p.Ser1829Ala)
c.2275T>G (p.Ser759Ala)
5g.177293909_177293910delinsTCCA1603535460NSD1c.5668_5669delinsTC (p.Ser1890=)
c.1183_1184delinsTC (p.Ser395=)
n.6124_6125delinsTC
n.957_958delinsTC
c.6232_6233delinsTC (p.Ser2078=)
n.5938_5939delinsTC
c.6541_6542delinsTC (p.Ser2181=)
c.5734_5735delinsTC (p.Ser1912=)
c.2035_2036delinsTC (p.Ser679=)
c.6121_6122delinsTC (p.Ser2041=)
c.5485_5486delinsTC (p.Ser1829=)
c.2275_2276delinsTC (p.Ser759=)
5g.177293910C>ACA362323841NSD1c.5669C>A (p.Ser1890Tyr)
c.1184C>A (p.Ser395Tyr)
n.6125C>A
n.958C>A
c.6233C>A (p.Ser2078Tyr)
n.5939C>A
c.6542C>A (p.Ser2181Tyr)
c.5735C>A (p.Ser1912Tyr)
c.2036C>A (p.Ser679Tyr)
c.6122C>A (p.Ser2041Tyr)
c.5486C>A (p.Ser1829Tyr)
c.2276C>A (p.Ser759Tyr)
 ClinVar
5g.177293910C>GCA362323843NSD1c.5669C>G (p.Ser1890Cys)
c.1184C>G (p.Ser395Cys)
n.6125C>G
n.958C>G
c.6233C>G (p.Ser2078Cys)
n.5939C>G
c.6542C>G (p.Ser2181Cys)
c.5735C>G (p.Ser1912Cys)
c.2036C>G (p.Ser679Cys)
c.6122C>G (p.Ser2041Cys)
c.5486C>G (p.Ser1829Cys)
c.2276C>G (p.Ser759Cys)
 gnomAD v4
5g.177293910C>TCA362323846NSD1c.5669C>T (p.Ser1890Phe)
c.1184C>T (p.Ser395Phe)
n.6125C>T
n.958C>T
c.6233C>T (p.Ser2078Phe)
n.5939C>T
c.6542C>T (p.Ser2181Phe)
c.5735C>T (p.Ser1912Phe)
c.2036C>T (p.Ser679Phe)
c.6122C>T (p.Ser2041Phe)
c.5486C>T (p.Ser1829Phe)
c.2276C>T (p.Ser759Phe)
 ClinVar dbSNP COSMIC COSMIC
5g.177293911delCA916081473NSD1c.5670del (p.Cys1892ValfsTer?)
c.1185del (p.Cys397ValfsTer?)
n.6126del
n.959del
c.6234del (p.Cys2080ValfsTer?)
n.5940del
c.6543del (p.Cys2183ValfsTer?)
c.5736del (p.Cys1914ValfsTer?)
c.2037del (p.Cys681ValfsTer?)
c.6123del (p.Cys2043ValfsTer?)
c.5487del (p.Cys1831ValfsTer?)
c.2277del (p.Cys761ValfsTer?)
 ClinVar dbSNP
5g.177293911C>ACA447961348NSD1c.5670C>A (p.Ser1890=)
c.1185C>A (p.Ser395=)
n.6126C>A
n.959C>A
c.6234C>A (p.Ser2078=)
n.5940C>A
c.6543C>A (p.Ser2181=)
c.5736C>A (p.Ser1912=)
c.2037C>A (p.Ser679=)
c.6123C>A (p.Ser2041=)
c.5487C>A (p.Ser1829=)
c.2277C>A (p.Ser759=)
5g.177293911C>GCA447961350NSD1c.5670C>G (p.Ser1890=)
c.1185C>G (p.Ser395=)
n.6126C>G
n.959C>G
c.6234C>G (p.Ser2078=)
n.5940C>G
c.6543C>G (p.Ser2181=)
c.5736C>G (p.Ser1912=)
c.2037C>G (p.Ser679=)
c.6123C>G (p.Ser2041=)
c.5487C>G (p.Ser1829=)
c.2277C>G (p.Ser759=)
5g.177293911C>TCA447961351NSD1c.5670C>T (p.Ser1890=)
c.1185C>T (p.Ser395=)
n.6126C>T
n.959C>T
c.6234C>T (p.Ser2078=)
n.5940C>T
c.6543C>T (p.Ser2181=)
c.5736C>T (p.Ser1912=)
c.2037C>T (p.Ser679=)
c.6123C>T (p.Ser2041=)
c.5487C>T (p.Ser1829=)
c.2277C>T (p.Ser759=)
5g.177293912T>ACA362323851NSD1c.5671T>A (p.Phe1891Ile)
c.1186T>A (p.Phe396Ile)
n.6127T>A
n.960T>A
c.6235T>A (p.Phe2079Ile)
n.5941T>A
c.6544T>A (p.Phe2182Ile)
c.5737T>A (p.Phe1913Ile)
c.2038T>A (p.Phe680Ile)
c.6124T>A (p.Phe2042Ile)
c.5488T>A (p.Phe1830Ile)
c.2278T>A (p.Phe760Ile)
5g.177293912T>CCA362323853NSD1c.5671T>C (p.Phe1891Leu)
c.1186T>C (p.Phe396Leu)
n.6127T>C
n.960T>C
c.6235T>C (p.Phe2079Leu)
n.5941T>C
c.6544T>C (p.Phe2182Leu)
c.5737T>C (p.Phe1913Leu)
c.2038T>C (p.Phe680Leu)
c.6124T>C (p.Phe2042Leu)
c.5488T>C (p.Phe1830Leu)
c.2278T>C (p.Phe760Leu)
5g.177293912T>GCA362323858NSD1c.5671T>G (p.Phe1891Val)
c.1186T>G (p.Phe396Val)
n.6127T>G
n.960T>G
c.6235T>G (p.Phe2079Val)
n.5941T>G
c.6544T>G (p.Phe2182Val)
c.5737T>G (p.Phe1913Val)
c.2038T>G (p.Phe680Val)
c.6124T>G (p.Phe2042Val)
c.5488T>G (p.Phe1830Val)
c.2278T>G (p.Phe760Val)
5g.177293915delCA2711004485NSD1c.5674del (p.Cys1892ValfsTer?)
c.1189del (p.Cys397ValfsTer?)
n.6130del
n.963del
c.6238del (p.Cys2080ValfsTer?)
n.5944del
c.6547del (p.Cys2183ValfsTer?)
c.5740del (p.Cys1914ValfsTer?)
c.2041del (p.Cys681ValfsTer?)
c.6127del (p.Cys2043ValfsTer?)
c.5491del (p.Cys1831ValfsTer?)
c.2281del (p.Cys761ValfsTer?)
 dbSNP
5g.177293913T>ACA362323860NSD1c.5672T>A (p.Phe1891Tyr)
c.1187T>A (p.Phe396Tyr)
n.6128T>A
n.961T>A
c.6236T>A (p.Phe2079Tyr)
n.5942T>A
c.6545T>A (p.Phe2182Tyr)
c.5738T>A (p.Phe1913Tyr)
c.2039T>A (p.Phe680Tyr)
c.6125T>A (p.Phe2042Tyr)
c.5489T>A (p.Phe1830Tyr)
c.2279T>A (p.Phe760Tyr)
5g.177293913T>CCA362323862NSD1c.5672T>C (p.Phe1891Ser)
c.1187T>C (p.Phe396Ser)
n.6128T>C
n.961T>C
c.6236T>C (p.Phe2079Ser)
n.5942T>C
c.6545T>C (p.Phe2182Ser)
c.5738T>C (p.Phe1913Ser)
c.2039T>C (p.Phe680Ser)
c.6125T>C (p.Phe2042Ser)
c.5489T>C (p.Phe1830Ser)
c.2279T>C (p.Phe760Ser)
5g.177293913T>GCA362323867NSD1c.5672T>G (p.Phe1891Cys)
c.1187T>G (p.Phe396Cys)
n.6128T>G
n.961T>G
c.6236T>G (p.Phe2079Cys)
n.5942T>G
c.6545T>G (p.Phe2182Cys)
c.5738T>G (p.Phe1913Cys)
c.2039T>G (p.Phe680Cys)
c.6125T>G (p.Phe2042Cys)
c.5489T>G (p.Phe1830Cys)
c.2279T>G (p.Phe760Cys)
5g.177293914T>ACA362323873NSD1c.5673T>A (p.Phe1891Leu)
c.1188T>A (p.Phe396Leu)
n.6129T>A
n.962T>A
c.6237T>A (p.Phe2079Leu)
n.5943T>A
c.6546T>A (p.Phe2182Leu)
c.5739T>A (p.Phe1913Leu)
c.2040T>A (p.Phe680Leu)
c.6126T>A (p.Phe2042Leu)
c.5490T>A (p.Phe1830Leu)
c.2280T>A (p.Phe760Leu)
5g.177293914T>CCA447961356NSD1c.5673T>C (p.Phe1891=)
c.1188T>C (p.Phe396=)
n.6129T>C
n.962T>C
c.6237T>C (p.Phe2079=)
n.5943T>C
c.6546T>C (p.Phe2182=)
c.5739T>C (p.Phe1913=)
c.2040T>C (p.Phe680=)
c.6126T>C (p.Phe2042=)
c.5490T>C (p.Phe1830=)
c.2280T>C (p.Phe760=)
5g.177293914T>GCA362323870NSD1c.5673T>G (p.Phe1891Leu)
c.1188T>G (p.Phe396Leu)
n.6129T>G
n.962T>G
c.6237T>G (p.Phe2079Leu)
n.5943T>G
c.6546T>G (p.Phe2182Leu)
c.5739T>G (p.Phe1913Leu)
c.2040T>G (p.Phe680Leu)
c.6126T>G (p.Phe2042Leu)
c.5490T>G (p.Phe1830Leu)
c.2280T>G (p.Phe760Leu)
5g.177293915T>ACA362323877NSD1c.5674T>A (p.Cys1892Ser)
c.1189T>A (p.Cys397Ser)
n.6130T>A
n.963T>A
c.6238T>A (p.Cys2080Ser)
n.5944T>A
c.6547T>A (p.Cys2183Ser)
c.5740T>A (p.Cys1914Ser)
c.2041T>A (p.Cys681Ser)
c.6127T>A (p.Cys2043Ser)
c.5491T>A (p.Cys1831Ser)
c.2281T>A (p.Cys761Ser)
 ClinVar
5g.177293915T>CCA362323879NSD1c.5674T>C (p.Cys1892Arg)
c.1189T>C (p.Cys397Arg)
n.6130T>C
n.963T>C
c.6238T>C (p.Cys2080Arg)
n.5944T>C
c.6547T>C (p.Cys2183Arg)
c.5740T>C (p.Cys1914Arg)
c.2041T>C (p.Cys681Arg)
c.6127T>C (p.Cys2043Arg)
c.5491T>C (p.Cys1831Arg)
c.2281T>C (p.Cys761Arg)
5g.177293915T>GCA362323882NSD1c.5674T>G (p.Cys1892Gly)
c.1189T>G (p.Cys397Gly)
n.6130T>G
n.963T>G
c.6238T>G (p.Cys2080Gly)
n.5944T>G
c.6547T>G (p.Cys2183Gly)
c.5740T>G (p.Cys1914Gly)
c.2041T>G (p.Cys681Gly)
c.6127T>G (p.Cys2043Gly)
c.5491T>G (p.Cys1831Gly)
c.2281T>G (p.Cys761Gly)
 ClinVar dbSNP
5g.177293915T=CA1603535467NSD1c.5674T= (p.Cys1892=)
c.1189T= (p.Cys397=)
n.6130T=
n.963T=
c.6238T= (p.Cys2080=)
n.5944T=
c.6547T= (p.Cys2183=)
c.5740T= (p.Cys1914=)
c.2041T= (p.Cys681=)
c.6127T= (p.Cys2043=)
c.5491T= (p.Cys1831=)
c.2281T= (p.Cys761=)
5g.177293916G>ACA362323886NSD1c.5675G>A (p.Cys1892Tyr)
c.1190G>A (p.Cys397Tyr)
n.6131G>A
n.964G>A
c.6239G>A (p.Cys2080Tyr)
n.5945G>A
c.6548G>A (p.Cys2183Tyr)
c.5741G>A (p.Cys1914Tyr)
c.2042G>A (p.Cys681Tyr)
c.6128G>A (p.Cys2043Tyr)
c.5492G>A (p.Cys1831Tyr)
c.2282G>A (p.Cys761Tyr)
5g.177293916G>CCA281542NSD1c.5675G>C (p.Cys1892Ser)
c.1190G>C (p.Cys397Ser)
n.6131G>C
n.964G>C
c.6239G>C (p.Cys2080Ser)
n.5945G>C
c.6548G>C (p.Cys2183Ser)
c.5741G>C (p.Cys1914Ser)
c.2042G>C (p.Cys681Ser)
c.6128G>C (p.Cys2043Ser)
c.5492G>C (p.Cys1831Ser)
c.2282G>C (p.Cys761Ser)
 ClinVar dbSNP
5g.177293916G=CA1603535472NSD1c.5675G= (p.Cys1892=)
c.1190G= (p.Cys397=)
n.6131G=
n.964G=
c.6239G= (p.Cys2080=)
n.5945G=
c.6548G= (p.Cys2183=)
c.5741G= (p.Cys1914=)
c.2042G= (p.Cys681=)
c.6128G= (p.Cys2043=)
c.5492G= (p.Cys1831=)
c.2282G= (p.Cys761=)
5g.177293916G>TCA362323890NSD1c.5675G>T (p.Cys1892Phe)
c.1190G>T (p.Cys397Phe)
n.6131G>T
n.964G>T
c.6239G>T (p.Cys2080Phe)
n.5945G>T
c.6548G>T (p.Cys2183Phe)
c.5741G>T (p.Cys1914Phe)
c.2042G>T (p.Cys681Phe)
c.6128G>T (p.Cys2043Phe)
c.5492G>T (p.Cys1831Phe)
c.2282G>T (p.Cys761Phe)
5g.177293917T>ACA362323894NSD1c.5676T>A (p.Cys1892Ter)
c.1191T>A (p.Cys397Ter)
n.6132T>A
n.965T>A
c.6240T>A (p.Cys2080Ter)
n.5946T>A
c.6549T>A (p.Cys2183Ter)
c.5742T>A (p.Cys1914Ter)
c.2043T>A (p.Cys681Ter)
c.6129T>A (p.Cys2043Ter)
c.5493T>A (p.Cys1831Ter)
c.2283T>A (p.Cys761Ter)
5g.177293917T>CCA447961362NSD1c.5676T>C (p.Cys1892=)
c.1191T>C (p.Cys397=)
n.6132T>C
n.965T>C
c.6240T>C (p.Cys2080=)
n.5946T>C
c.6549T>C (p.Cys2183=)
c.5742T>C (p.Cys1914=)
c.2043T>C (p.Cys681=)
c.6129T>C (p.Cys2043=)
c.5493T>C (p.Cys1831=)
c.2283T>C (p.Cys761=)
5g.177293917T>GCA362323895NSD1c.5676T>G (p.Cys1892Trp)
c.1191T>G (p.Cys397Trp)
n.6132T>G
n.965T>G
c.6240T>G (p.Cys2080Trp)
n.5946T>G
c.6549T>G (p.Cys2183Trp)
c.5742T>G (p.Cys1914Trp)
c.2043T>G (p.Cys681Trp)
c.6129T>G (p.Cys2043Trp)
c.5493T>G (p.Cys1831Trp)
c.2283T>G (p.Cys761Trp)
5g.177293918A>CCA362323897NSD1c.5677A>C (p.Lys1893Gln)
c.1192A>C (p.Lys398Gln)
n.6133A>C
n.966A>C
c.6241A>C (p.Lys2081Gln)
n.5947A>C
c.6550A>C (p.Lys2184Gln)
c.5743A>C (p.Lys1915Gln)
c.2044A>C (p.Lys682Gln)
c.6130A>C (p.Lys2044Gln)
c.5494A>C (p.Lys1832Gln)
c.2284A>C (p.Lys762Gln)
5g.177293918A>GCA362323898NSD1c.5677A>G (p.Lys1893Glu)
c.1192A>G (p.Lys398Glu)
n.6133A>G
n.966A>G
c.6241A>G (p.Lys2081Glu)
n.5947A>G
c.6550A>G (p.Lys2184Glu)
c.5743A>G (p.Lys1915Glu)
c.2044A>G (p.Lys682Glu)
c.6130A>G (p.Lys2044Glu)
c.5494A>G (p.Lys1832Glu)
c.2284A>G (p.Lys762Glu)
5g.177293918A>TCA362323901NSD1c.5677A>T (p.Lys1893Ter)
c.1192A>T (p.Lys398Ter)
n.6133A>T
n.966A>T
c.6241A>T (p.Lys2081Ter)
n.5947A>T
c.6550A>T (p.Lys2184Ter)
c.5743A>T (p.Lys1915Ter)
c.2044A>T (p.Lys682Ter)
c.6130A>T (p.Lys2044Ter)
c.5494A>T (p.Lys1832Ter)
c.2284A>T (p.Lys762Ter)
5g.177293919A=CA1603535478NSD1c.5678A= (p.Lys1893=)
c.1193A= (p.Lys398=)
n.6134A=
n.967A=
c.6242A= (p.Lys2081=)
n.5948A=
c.6551A= (p.Lys2184=)
c.5744A= (p.Lys1915=)
c.2045A= (p.Lys682=)
c.6131A= (p.Lys2044=)
c.5495A= (p.Lys1832=)
c.2285A= (p.Lys762=)
5g.177293919A>CCA362323908NSD1c.5678A>C (p.Lys1893Thr)
c.1193A>C (p.Lys398Thr)
n.6134A>C
n.967A>C
c.6242A>C (p.Lys2081Thr)
n.5948A>C
c.6551A>C (p.Lys2184Thr)
c.5744A>C (p.Lys1915Thr)
c.2045A>C (p.Lys682Thr)
c.6131A>C (p.Lys2044Thr)
c.5495A>C (p.Lys1832Thr)
c.2285A>C (p.Lys762Thr)
5g.177293919A>GCA362323904NSD1c.5678A>G (p.Lys1893Arg)
c.1193A>G (p.Lys398Arg)
n.6134A>G
n.967A>G
c.6242A>G (p.Lys2081Arg)
n.5948A>G
c.6551A>G (p.Lys2184Arg)
c.5744A>G (p.Lys1915Arg)
c.2045A>G (p.Lys682Arg)
c.6131A>G (p.Lys2044Arg)
c.5495A>G (p.Lys1832Arg)
c.2285A>G (p.Lys762Arg)
 dbSNP
5g.177293919A>TCA362323903NSD1c.5678A>T (p.Lys1893Met)
c.1193A>T (p.Lys398Met)
n.6134A>T
n.967A>T
c.6242A>T (p.Lys2081Met)
n.5948A>T
c.6551A>T (p.Lys2184Met)
c.5744A>T (p.Lys1915Met)
c.2045A>T (p.Lys682Met)
c.6131A>T (p.Lys2044Met)
c.5495A>T (p.Lys1832Met)
c.2285A>T (p.Lys762Met)
5g.177293920G>ACA447961368NSD1c.5679G>A (p.Lys1893=)
c.1194G>A (p.Lys398=)
n.6135G>A
n.968G>A
c.6243G>A (p.Lys2081=)
n.5949G>A
c.6552G>A (p.Lys2184=)
c.5745G>A (p.Lys1915=)
c.2046G>A (p.Lys682=)
c.6132G>A (p.Lys2044=)
c.5496G>A (p.Lys1832=)
c.2286G>A (p.Lys762=)
5g.177293920G>CCA362323912NSD1c.5679G>C (p.Lys1893Asn)
c.1194G>C (p.Lys398Asn)
n.6135G>C
n.968G>C
c.6243G>C (p.Lys2081Asn)
n.5949G>C
c.6552G>C (p.Lys2184Asn)
c.5745G>C (p.Lys1915Asn)
c.2046G>C (p.Lys682Asn)
c.6132G>C (p.Lys2044Asn)
c.5496G>C (p.Lys1832Asn)
c.2286G>C (p.Lys762Asn)
5g.177293920G>TCA362323914NSD1c.5679G>T (p.Lys1893Asn)
c.1194G>T (p.Lys398Asn)
n.6135G>T
n.968G>T
c.6243G>T (p.Lys2081Asn)
n.5949G>T
c.6552G>T (p.Lys2184Asn)
c.5745G>T (p.Lys1915Asn)
c.2046G>T (p.Lys682Asn)
c.6132G>T (p.Lys2044Asn)
c.5496G>T (p.Lys1832Asn)
c.2286G>T (p.Lys762Asn)
5g.177293921C>ACA362323917NSD1c.5680C>A (p.Gln1894Lys)
c.1195C>A (p.Gln399Lys)
n.6136C>A
n.969C>A
c.6244C>A (p.Gln2082Lys)
n.5950C>A
c.6553C>A (p.Gln2185Lys)
c.5746C>A (p.Gln1916Lys)
c.2047C>A (p.Gln683Lys)
c.6133C>A (p.Gln2045Lys)
c.5497C>A (p.Gln1833Lys)
c.2287C>A (p.Gln763Lys)
5g.177293921C=CA1603535484NSD1c.5680C= (p.Gln1894=)
c.1195C= (p.Gln399=)
n.6136C=
n.969C=
c.6244C= (p.Gln2082=)
n.5950C=
c.6553C= (p.Gln2185=)
c.5746C= (p.Gln1916=)
c.2047C= (p.Gln683=)
c.6133C= (p.Gln2045=)
c.5497C= (p.Gln1833=)
c.2287C= (p.Gln763=)
5g.177293921C>GCA362323919NSD1c.5680C>G (p.Gln1894Glu)
c.1195C>G (p.Gln399Glu)
n.6136C>G
n.969C>G
c.6244C>G (p.Gln2082Glu)
n.5950C>G
c.6553C>G (p.Gln2185Glu)
c.5746C>G (p.Gln1916Glu)
c.2047C>G (p.Gln683Glu)
c.6133C>G (p.Gln2045Glu)
c.5497C>G (p.Gln1833Glu)
c.2287C>G (p.Gln763Glu)
5g.177293921C>TCA362323921NSD1c.5680C>T (p.Gln1894Ter)
c.1195C>T (p.Gln399Ter)
n.6136C>T
n.969C>T
c.6244C>T (p.Gln2082Ter)
n.5950C>T
c.6553C>T (p.Gln2185Ter)
c.5746C>T (p.Gln1916Ter)
c.2047C>T (p.Gln683Ter)
c.6133C>T (p.Gln2045Ter)
c.5497C>T (p.Gln1833Ter)
c.2287C>T (p.Gln763Ter)
 ClinVar dbSNP
5g.177293922A>CCA362323924NSD1c.5681A>C (p.Gln1894Pro)
c.1196A>C (p.Gln399Pro)
n.6137A>C
n.970A>C
c.6245A>C (p.Gln2082Pro)
n.5951A>C
c.6554A>C (p.Gln2185Pro)
c.5747A>C (p.Gln1916Pro)
c.2048A>C (p.Gln683Pro)
c.6134A>C (p.Gln2045Pro)
c.5498A>C (p.Gln1833Pro)
c.2288A>C (p.Gln763Pro)
5g.177293922A>GCA362323928NSD1c.5681A>G (p.Gln1894Arg)
c.1196A>G (p.Gln399Arg)
n.6137A>G
n.970A>G
c.6245A>G (p.Gln2082Arg)
n.5951A>G
c.6554A>G (p.Gln2185Arg)
c.5747A>G (p.Gln1916Arg)
c.2048A>G (p.Gln683Arg)
c.6134A>G (p.Gln2045Arg)
c.5498A>G (p.Gln1833Arg)
c.2288A>G (p.Gln763Arg)
5g.177293922A>TCA362323931NSD1c.5681A>T (p.Gln1894Leu)
c.1196A>T (p.Gln399Leu)
n.6137A>T
n.970A>T
c.6245A>T (p.Gln2082Leu)
n.5951A>T
c.6554A>T (p.Gln2185Leu)
c.5747A>T (p.Gln1916Leu)
c.2048A>T (p.Gln683Leu)
c.6134A>T (p.Gln2045Leu)
c.5498A>T (p.Gln1833Leu)
c.2288A>T (p.Gln763Leu)
5g.177293923G>ACA447961374NSD1c.5682G>A (p.Gln1894=)
c.1197G>A (p.Gln399=)
n.6138G>A
n.971G>A
c.6246G>A (p.Gln2082=)
n.5952G>A
c.6555G>A (p.Gln2185=)
c.5748G>A (p.Gln1916=)
c.2049G>A (p.Gln683=)
c.6135G>A (p.Gln2045=)
c.5499G>A (p.Gln1833=)
c.2289G>A (p.Gln763=)
 dbSNP
5g.177293923G>CCA362323935NSD1c.5682G>C (p.Gln1894His)
c.1197G>C (p.Gln399His)
n.6138G>C
n.971G>C
c.6246G>C (p.Gln2082His)
n.5952G>C
c.6555G>C (p.Gln2185His)
c.5748G>C (p.Gln1916His)
c.2049G>C (p.Gln683His)
c.6135G>C (p.Gln2045His)
c.5499G>C (p.Gln1833His)
c.2289G>C (p.Gln763His)
5g.177293923G>TCA362323937NSD1c.5682G>T (p.Gln1894His)
c.1197G>T (p.Gln399His)
n.6138G>T
n.971G>T
c.6246G>T (p.Gln2082His)
n.5952G>T
c.6555G>T (p.Gln2185His)
c.5748G>T (p.Gln1916His)
c.2049G>T (p.Gln683His)
c.6135G>T (p.Gln2045His)
c.5499G>T (p.Gln1833His)
c.2289G>T (p.Gln763His)
5g.177293923_177293924insAATACA2555313706NSD1c.5682_5683insAATA (p.His1895AsnfsTer20)
c.1197_1198insAATA (p.His400AsnfsTer20)
n.6138_6139insAATA
n.971_972insAATA
c.6246_6247insAATA (p.His2083AsnfsTer20)
n.5952_5953insAATA
c.6555_6556insAATA (p.His2186AsnfsTer20)
c.5748_5749insAATA (p.His1917AsnfsTer20)
c.2049_2050insAATA (p.His684AsnfsTer20)
c.6135_6136insAATA (p.His2046AsnfsTer20)
c.5499_5500insAATA (p.His1834AsnfsTer20)
c.2289_2290insAATA (p.His764AsnfsTer20)
5g.177293924C>ACA362323940NSD1c.5683C>A (p.His1895Asn)
c.1198C>A (p.His400Asn)
n.6139C>A
n.972C>A
c.6247C>A (p.His2083Asn)
n.5953C>A
c.6556C>A (p.His2186Asn)
c.5749C>A (p.His1917Asn)
c.2050C>A (p.His684Asn)
c.6136C>A (p.His2046Asn)
c.5500C>A (p.His1834Asn)
c.2290C>A (p.His764Asn)
 dbSNP
5g.177293924C>GCA362323943NSD1c.5683C>G (p.His1895Asp)
c.1198C>G (p.His400Asp)
n.6139C>G
n.972C>G
c.6247C>G (p.His2083Asp)
n.5953C>G
c.6556C>G (p.His2186Asp)
c.5749C>G (p.His1917Asp)
c.2050C>G (p.His684Asp)
c.6136C>G (p.His2046Asp)
c.5500C>G (p.His1834Asp)
c.2290C>G (p.His764Asp)
5g.177293924C>TCA362323946NSD1c.5683C>T (p.His1895Tyr)
c.1198C>T (p.His400Tyr)
n.6139C>T
n.972C>T
c.6247C>T (p.His2083Tyr)
n.5953C>T
c.6556C>T (p.His2186Tyr)
c.5749C>T (p.His1917Tyr)
c.2050C>T (p.His684Tyr)
c.6136C>T (p.His2046Tyr)
c.5500C>T (p.His1834Tyr)
c.2290C>T (p.His764Tyr)
 dbSNP
5g.177293925A=CA1603535492NSD1c.5684A= (p.His1895=)
c.1199A= (p.His400=)
n.6140A=
n.973A=
c.6248A= (p.His2083=)
n.5954A=
c.6557A= (p.His2186=)
c.5750A= (p.His1917=)
c.2051A= (p.His684=)
c.6137A= (p.His2046=)
c.5501A= (p.His1834=)
c.2291A= (p.His764=)
5g.177293925A>CCA362323948NSD1c.5684A>C (p.His1895Pro)
c.1199A>C (p.His400Pro)
n.6140A>C
n.973A>C
c.6248A>C (p.His2083Pro)
n.5954A>C
c.6557A>C (p.His2186Pro)
c.5750A>C (p.His1917Pro)
c.2051A>C (p.His684Pro)
c.6137A>C (p.His2046Pro)
c.5501A>C (p.His1834Pro)
c.2291A>C (p.His764Pro)
5g.177293925A>GCA295099NSD1c.5684A>G (p.His1895Arg)
c.1199A>G (p.His400Arg)
n.6140A>G
n.973A>G
c.6248A>G (p.His2083Arg)
n.5954A>G
c.6557A>G (p.His2186Arg)
c.5750A>G (p.His1917Arg)
c.2051A>G (p.His684Arg)
c.6137A>G (p.His2046Arg)
c.5501A>G (p.His1834Arg)
c.2291A>G (p.His764Arg)
 ClinVar dbSNP
5g.177293925A>TCA362323953NSD1c.5684A>T (p.His1895Leu)
c.1199A>T (p.His400Leu)
n.6140A>T
n.973A>T
c.6248A>T (p.His2083Leu)
n.5954A>T
c.6557A>T (p.His2186Leu)
c.5750A>T (p.His1917Leu)
c.2051A>T (p.His684Leu)
c.6137A>T (p.His2046Leu)
c.5501A>T (p.His1834Leu)
c.2291A>T (p.His764Leu)
5g.177293926T>ACA362323960NSD1c.5685T>A (p.His1895Gln)
c.1200T>A (p.His400Gln)
n.6141T>A
n.974T>A
c.6249T>A (p.His2083Gln)
n.5955T>A
c.6558T>A (p.His2186Gln)
c.5751T>A (p.His1917Gln)
c.2052T>A (p.His684Gln)
c.6138T>A (p.His2046Gln)
c.5502T>A (p.His1834Gln)
c.2292T>A (p.His764Gln)
5g.177293926T>CCA447961379NSD1c.5685T>C (p.His1895=)
c.1200T>C (p.His400=)
n.6141T>C
n.974T>C
c.6249T>C (p.His2083=)
n.5955T>C
c.6558T>C (p.His2186=)
c.5751T>C (p.His1917=)
c.2052T>C (p.His684=)
c.6138T>C (p.His2046=)
c.5502T>C (p.His1834=)
c.2292T>C (p.His764=)
5g.177293926T>GCA362323963NSD1c.5685T>G (p.His1895Gln)
c.1200T>G (p.His400Gln)
n.6141T>G
n.974T>G
c.6249T>G (p.His2083Gln)
n.5955T>G
c.6558T>G (p.His2186Gln)
c.5751T>G (p.His1917Gln)
c.2052T>G (p.His684Gln)
c.6138T>G (p.His2046Gln)
c.5502T>G (p.His1834Gln)
c.2292T>G (p.His764Gln)
5g.177293927C>ACA447961380NSD1c.5686C>A (p.Arg1896=)
c.1201C>A (p.Arg401=)
n.6142C>A
n.975C>A
c.6250C>A (p.Arg2084=)
n.5956C>A
c.6559C>A (p.Arg2187=)
c.5752C>A (p.Arg1918=)
c.2053C>A (p.Arg685=)
c.6139C>A (p.Arg2047=)
c.5503C>A (p.Arg1835=)
c.2293C>A (p.Arg765=)
 dbSNP
5g.177293927C=CA1603535500NSD1c.5686C= (p.Arg1896=)
c.1201C= (p.Arg401=)
n.6142C=
n.975C=
c.6250C= (p.Arg2084=)
n.5956C=
c.6559C= (p.Arg2187=)
c.5752C= (p.Arg1918=)
c.2053C= (p.Arg685=)
c.6139C= (p.Arg2047=)
c.5503C= (p.Arg1835=)
c.2293C= (p.Arg765=)
5g.177293927C>GCA362323966NSD1c.5686C>G (p.Arg1896Gly)
c.1201C>G (p.Arg401Gly)
n.6142C>G
n.975C>G
c.6250C>G (p.Arg2084Gly)
n.5956C>G
c.6559C>G (p.Arg2187Gly)
c.5752C>G (p.Arg1918Gly)
c.2053C>G (p.Arg685Gly)
c.6139C>G (p.Arg2047Gly)
c.5503C>G (p.Arg1835Gly)
c.2293C>G (p.Arg765Gly)
 dbSNP
5g.177293927C>TCA295102NSD1c.5686C>T (p.Arg1896Ter)
c.1201C>T (p.Arg401Ter)
n.6142C>T
n.975C>T
c.6250C>T (p.Arg2084Ter)
n.5956C>T
c.6559C>T (p.Arg2187Ter)
c.5752C>T (p.Arg1918Ter)
c.2053C>T (p.Arg685Ter)
c.6139C>T (p.Arg2047Ter)
c.5503C>T (p.Arg1835Ter)
c.2293C>T (p.Arg765Ter)
 ClinVar dbSNP COSMIC COSMIC
5g.177293927_177293930delCA2544542657NSD1c.5686_5689del (p.Arg1896LysfsTer?)
c.1201_1204del (p.Arg401LysfsTer?)
n.6142_6145del
n.975_978del
c.6250_6253del (p.Arg2084LysfsTer?)
n.5956_5959del
c.6559_6562del (p.Arg2187LysfsTer?)
c.5752_5755del (p.Arg1918LysfsTer?)
c.2053_2056del (p.Arg685LysfsTer?)
c.6139_6142del (p.Arg2047LysfsTer?)
c.5503_5506del (p.Arg1835LysfsTer?)
c.2293_2296del (p.Arg765LysfsTer?)
5g.177293928G>ACA362323971NSD1c.5687G>A (p.Arg1896Gln)
c.1202G>A (p.Arg401Gln)
n.6143G>A
n.976G>A
c.6251G>A (p.Arg2084Gln)
n.5957G>A
c.6560G>A (p.Arg2187Gln)
c.5753G>A (p.Arg1918Gln)
c.2054G>A (p.Arg685Gln)
c.6140G>A (p.Arg2047Gln)
c.5504G>A (p.Arg1835Gln)
c.2294G>A (p.Arg765Gln)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.177293928G>CCA362323974NSD1c.5687G>C (p.Arg1896Pro)
c.1202G>C (p.Arg401Pro)
n.6143G>C
n.976G>C
c.6251G>C (p.Arg2084Pro)
n.5957G>C
c.6560G>C (p.Arg2187Pro)
c.5753G>C (p.Arg1918Pro)
c.2054G>C (p.Arg685Pro)
c.6140G>C (p.Arg2047Pro)
c.5504G>C (p.Arg1835Pro)
c.2294G>C (p.Arg765Pro)
 dbSNP
5g.177293928G=CA1603535506NSD1c.5687G= (p.Arg1896=)
c.1202G= (p.Arg401=)
n.6143G=
n.976G=
c.6251G= (p.Arg2084=)
n.5957G=
c.6560G= (p.Arg2187=)
c.5753G= (p.Arg1918=)
c.2054G= (p.Arg685=)
c.6140G= (p.Arg2047=)
c.5504G= (p.Arg1835=)
c.2294G= (p.Arg765=)
5g.177293928G>TCA362323975NSD1c.5687G>T (p.Arg1896Leu)
c.1202G>T (p.Arg401Leu)
n.6143G>T
n.976G>T
c.6251G>T (p.Arg2084Leu)
n.5957G>T
c.6560G>T (p.Arg2187Leu)
c.5753G>T (p.Arg1918Leu)
c.2054G>T (p.Arg685Leu)
c.6140G>T (p.Arg2047Leu)
c.5504G>T (p.Arg1835Leu)
c.2294G>T (p.Arg765Leu)
5g.177293929A=CA1603535512NSD1c.5688A= (p.Arg1896=)
c.1203A= (p.Arg401=)
n.6144A=
n.977A=
c.6252A= (p.Arg2084=)
n.5958A=
c.6561A= (p.Arg2187=)
c.5754A= (p.Arg1918=)
c.2055A= (p.Arg685=)
c.6141A= (p.Arg2047=)
c.5505A= (p.Arg1835=)
c.2295A= (p.Arg765=)
5g.177293929A>CCA447961384NSD1c.5688A>C (p.Arg1896=)
c.1203A>C (p.Arg401=)
n.6144A>C
n.977A>C
c.6252A>C (p.Arg2084=)
n.5958A>C
c.6561A>C (p.Arg2187=)
c.5754A>C (p.Arg1918=)
c.2055A>C (p.Arg685=)
c.6141A>C (p.Arg2047=)
c.5505A>C (p.Arg1835=)
c.2295A>C (p.Arg765=)
5g.177293929A>GCA447961383NSD1c.5688A>G (p.Arg1896=)
c.1203A>G (p.Arg401=)
n.6144A>G
n.977A>G
c.6252A>G (p.Arg2084=)
n.5958A>G
c.6561A>G (p.Arg2187=)
c.5754A>G (p.Arg1918=)
c.2055A>G (p.Arg685=)
c.6141A>G (p.Arg2047=)
c.5505A>G (p.Arg1835=)
c.2295A>G (p.Arg765=)
5g.177293929A>TCA447961382NSD1c.5688A>T (p.Arg1896=)
c.1203A>T (p.Arg401=)
n.6144A>T
n.977A>T
c.6252A>T (p.Arg2084=)
n.5958A>T
c.6561A>T (p.Arg2187=)
c.5754A>T (p.Arg1918=)
c.2055A>T (p.Arg685=)
c.6141A>T (p.Arg2047=)
c.5505A>T (p.Arg1835=)
c.2295A>T (p.Arg765=)
 dbSNP gnomAD v3 gnomAD v4
5g.177293931_177293933dupCA2676692106NSD1c.5690_5692dup (p.Glu1897_Gly1898insGlu)
c.1205_1207dup (p.Glu402_Gly403insGlu)
n.6146_6148dup
n.979_981dup
c.6254_6256dup (p.Glu2085_Gly2086insGlu)
n.5960_5962dup
c.6563_6565dup (p.Glu2188_Gly2189insGlu)
c.5756_5758dup (p.Glu1919_Gly1920insGlu)
c.2057_2059dup (p.Glu686_Gly687insGlu)
c.6143_6145dup (p.Glu2048_Gly2049insGlu)
c.5507_5509dup (p.Glu1836_Gly1837insGlu)
c.2297_2299dup (p.Glu766_Gly767insGlu)
 gnomAD v4
5g.177293930G>ACA362323980NSD1c.5689G>A (p.Glu1897Lys)
c.1204G>A (p.Glu402Lys)
n.6145G>A
n.978G>A
c.6253G>A (p.Glu2085Lys)
n.5959G>A
c.6562G>A (p.Glu2188Lys)
c.5755G>A (p.Glu1919Lys)
c.2056G>A (p.Glu686Lys)
c.6142G>A (p.Glu2048Lys)
c.5506G>A (p.Glu1836Lys)
c.2296G>A (p.Glu766Lys)
5g.177293930G>CCA362323983NSD1c.5689G>C (p.Glu1897Gln)
c.1204G>C (p.Glu402Gln)
n.6145G>C
n.978G>C
c.6253G>C (p.Glu2085Gln)
n.5959G>C
c.6562G>C (p.Glu2188Gln)
c.5755G>C (p.Glu1919Gln)
c.2056G>C (p.Glu686Gln)
c.6142G>C (p.Glu2048Gln)
c.5506G>C (p.Glu1836Gln)
c.2296G>C (p.Glu766Gln)
5g.177293930G>TCA362323984NSD1c.5689G>T (p.Glu1897Ter)
c.1204G>T (p.Glu402Ter)
n.6145G>T
n.978G>T
c.6253G>T (p.Glu2085Ter)
n.5959G>T
c.6562G>T (p.Glu2188Ter)
c.5755G>T (p.Glu1919Ter)
c.2056G>T (p.Glu686Ter)
c.6142G>T (p.Glu2048Ter)
c.5506G>T (p.Glu1836Ter)
c.2296G>T (p.Glu766Ter)
5g.177293930_177293935delinsACA2695205751NSD1c.5689_5694delinsA (p.Glu1897AsnfsTer15)
c.1204_1209delinsA (p.Glu402AsnfsTer15)
n.6145_6150delinsA
n.978_983delinsA
c.6253_6258delinsA (p.Glu2085AsnfsTer15)
n.5959_5964delinsA
c.6562_6567delinsA (p.Glu2188AsnfsTer15)
c.5755_5760delinsA (p.Glu1919AsnfsTer15)
c.2056_2061delinsA (p.Glu686AsnfsTer15)
c.6142_6147delinsA (p.Glu2048AsnfsTer15)
c.5506_5511delinsA (p.Glu1836AsnfsTer15)
c.2296_2301delinsA (p.Glu766AsnfsTer15)
5g.177293931A>CCA362323989NSD1c.5690A>C (p.Glu1897Ala)
c.1205A>C (p.Glu402Ala)
n.6146A>C
n.979A>C
c.6254A>C (p.Glu2085Ala)
n.5960A>C
c.6563A>C (p.Glu2188Ala)
c.5756A>C (p.Glu1919Ala)
c.2057A>C (p.Glu686Ala)
c.6143A>C (p.Glu2048Ala)
c.5507A>C (p.Glu1836Ala)
c.2297A>C (p.Glu766Ala)
5g.177293931A>GCA362323990NSD1c.5690A>G (p.Glu1897Gly)
c.1205A>G (p.Glu402Gly)
n.6146A>G
n.979A>G
c.6254A>G (p.Glu2085Gly)
n.5960A>G
c.6563A>G (p.Glu2188Gly)
c.5756A>G (p.Glu1919Gly)
c.2057A>G (p.Glu686Gly)
c.6143A>G (p.Glu2048Gly)
c.5507A>G (p.Glu1836Gly)
c.2297A>G (p.Glu766Gly)
5g.177293931A>TCA362323987NSD1c.5690A>T (p.Glu1897Val)
c.1205A>T (p.Glu402Val)
n.6146A>T
n.979A>T
c.6254A>T (p.Glu2085Val)
n.5960A>T
c.6563A>T (p.Glu2188Val)
c.5756A>T (p.Glu1919Val)
c.2057A>T (p.Glu686Val)
c.6143A>T (p.Glu2048Val)
c.5507A>T (p.Glu1836Val)
c.2297A>T (p.Glu766Val)
5g.177293932A>CCA362323996NSD1c.5691A>C (p.Glu1897Asp)
c.1206A>C (p.Glu402Asp)
n.6147A>C
n.980A>C
c.6255A>C (p.Glu2085Asp)
n.5961A>C
c.6564A>C (p.Glu2188Asp)
c.5757A>C (p.Glu1919Asp)
c.2058A>C (p.Glu686Asp)
c.6144A>C (p.Glu2048Asp)
c.5508A>C (p.Glu1836Asp)
c.2298A>C (p.Glu766Asp)
5g.177293932A>GCA447961387NSD1c.5691A>G (p.Glu1897=)
c.1206A>G (p.Glu402=)
n.6147A>G
n.980A>G
c.6255A>G (p.Glu2085=)
n.5961A>G
c.6564A>G (p.Glu2188=)
c.5757A>G (p.Glu1919=)
c.2058A>G (p.Glu686=)
c.6144A>G (p.Glu2048=)
c.5508A>G (p.Glu1836=)
c.2298A>G (p.Glu766=)
5g.177293932A>TCA362323993NSD1c.5691A>T (p.Glu1897Asp)
c.1206A>T (p.Glu402Asp)
n.6147A>T
n.980A>T
c.6255A>T (p.Glu2085Asp)
n.5961A>T
c.6564A>T (p.Glu2188Asp)
c.5757A>T (p.Glu1919Asp)
c.2058A>T (p.Glu686Asp)
c.6144A>T (p.Glu2048Asp)
c.5508A>T (p.Glu1836Asp)
c.2298A>T (p.Glu766Asp)
5g.177293933G>ACA362323998NSD1c.5692G>A (p.Gly1898Arg)
c.1207G>A (p.Gly403Arg)
n.6148G>A
n.981G>A
c.6256G>A (p.Gly2086Arg)
n.5962G>A
c.6565G>A (p.Gly2189Arg)
c.5758G>A (p.Gly1920Arg)
c.2059G>A (p.Gly687Arg)
c.6145G>A (p.Gly2049Arg)
c.5509G>A (p.Gly1837Arg)
c.2299G>A (p.Gly767Arg)
5g.177293933G>CCA362324001NSD1c.5692G>C (p.Gly1898Arg)
c.1207G>C (p.Gly403Arg)
n.6148G>C
n.981G>C
c.6256G>C (p.Gly2086Arg)
n.5962G>C
c.6565G>C (p.Gly2189Arg)
c.5758G>C (p.Gly1920Arg)
c.2059G>C (p.Gly687Arg)
c.6145G>C (p.Gly2049Arg)
c.5509G>C (p.Gly1837Arg)
c.2299G>C (p.Gly767Arg)
5g.177293933G>TCA362324003NSD1c.5692G>T (p.Gly1898Trp)
c.1207G>T (p.Gly403Trp)
n.6148G>T
n.981G>T
c.6256G>T (p.Gly2086Trp)
n.5962G>T
c.6565G>T (p.Gly2189Trp)
c.5758G>T (p.Gly1920Trp)
c.2059G>T (p.Gly687Trp)
c.6145G>T (p.Gly2049Trp)
c.5509G>T (p.Gly1837Trp)
c.2299G>T (p.Gly767Trp)
5g.177293934_177293935dupCA2697546198NSD1c.5693_5694dup (p.Met1899GlyfsTer?)
c.1208_1209dup (p.Met404GlyfsTer?)
n.6149_6150dup
n.982_983dup
c.6257_6258dup (p.Met2087GlyfsTer?)
n.5963_5964dup
c.6566_6567dup (p.Met2190GlyfsTer?)
c.5759_5760dup (p.Met1921GlyfsTer?)
c.2060_2061dup (p.Met688GlyfsTer?)
c.6146_6147dup (p.Met2050GlyfsTer?)
c.5510_5511dup (p.Met1838GlyfsTer?)
c.2300_2301dup (p.Met768GlyfsTer?)
 ClinVar
5g.177293934G>ACA362324008NSD1c.5693G>A (p.Gly1898Glu)
c.1208G>A (p.Gly403Glu)
n.6149G>A
n.982G>A
c.6257G>A (p.Gly2086Glu)
n.5963G>A
c.6566G>A (p.Gly2189Glu)
c.5759G>A (p.Gly1920Glu)
c.2060G>A (p.Gly687Glu)
c.6146G>A (p.Gly2049Glu)
c.5510G>A (p.Gly1837Glu)
c.2300G>A (p.Gly767Glu)
5g.177293934G>CCA362324011NSD1c.5693G>C (p.Gly1898Ala)
c.1208G>C (p.Gly403Ala)
n.6149G>C
n.982G>C
c.6257G>C (p.Gly2086Ala)
n.5963G>C
c.6566G>C (p.Gly2189Ala)
c.5759G>C (p.Gly1920Ala)
c.2060G>C (p.Gly687Ala)
c.6146G>C (p.Gly2049Ala)
c.5510G>C (p.Gly1837Ala)
c.2300G>C (p.Gly767Ala)
5g.177293934G>TCA362324014NSD1c.5693G>T (p.Gly1898Val)
c.1208G>T (p.Gly403Val)
n.6149G>T
n.982G>T
c.6257G>T (p.Gly2086Val)
n.5963G>T
c.6566G>T (p.Gly2189Val)
c.5759G>T (p.Gly1920Val)
c.2060G>T (p.Gly687Val)
c.6146G>T (p.Gly2049Val)
c.5510G>T (p.Gly1837Val)
c.2300G>T (p.Gly767Val)
5g.177293935G>ACA447961391NSD1c.5694G>A (p.Gly1898=)
c.1209G>A (p.Gly403=)
n.6150G>A
n.983G>A
c.6258G>A (p.Gly2086=)
n.5964G>A
c.6567G>A (p.Gly2189=)
c.5760G>A (p.Gly1920=)
c.2061G>A (p.Gly687=)
c.6147G>A (p.Gly2049=)
c.5511G>A (p.Gly1837=)
c.2301G>A (p.Gly767=)
5g.177293935G>CCA447961393NSD1c.5694G>C (p.Gly1898=)
c.1209G>C (p.Gly403=)
n.6150G>C
n.983G>C
c.6258G>C (p.Gly2086=)
n.5964G>C
c.6567G>C (p.Gly2189=)
c.5760G>C (p.Gly1920=)
c.2061G>C (p.Gly687=)
c.6147G>C (p.Gly2049=)
c.5511G>C (p.Gly1837=)
c.2301G>C (p.Gly767=)
 gnomAD v4
5g.177293935G>TCA447961392NSD1c.5694G>T (p.Gly1898=)
c.1209G>T (p.Gly403=)
n.6150G>T
n.983G>T
c.6258G>T (p.Gly2086=)
n.5964G>T
c.6567G>T (p.Gly2189=)
c.5760G>T (p.Gly1920=)
c.2061G>T (p.Gly687=)
c.6147G>T (p.Gly2049=)
c.5511G>T (p.Gly1837=)
c.2301G>T (p.Gly767=)
5g.177293936A>CCA362324017NSD1c.5695A>C (p.Met1899Leu)
c.1210A>C (p.Met404Leu)
n.6151A>C
n.984A>C
c.6259A>C (p.Met2087Leu)
n.5965A>C
c.6568A>C (p.Met2190Leu)
c.5761A>C (p.Met1921Leu)
c.2062A>C (p.Met688Leu)
c.6148A>C (p.Met2050Leu)
c.5512A>C (p.Met1838Leu)
c.2302A>C (p.Met768Leu)
5g.177293936A>GCA362324020NSD1c.5695A>G (p.Met1899Val)
c.1210A>G (p.Met404Val)
n.6151A>G
n.984A>G
c.6259A>G (p.Met2087Val)
n.5965A>G
c.6568A>G (p.Met2190Val)
c.5761A>G (p.Met1921Val)
c.2062A>G (p.Met688Val)
c.6148A>G (p.Met2050Val)
c.5512A>G (p.Met1838Val)
c.2302A>G (p.Met768Val)
5g.177293936A>TCA362324022NSD1c.5695A>T (p.Met1899Leu)
c.1210A>T (p.Met404Leu)
n.6151A>T
n.984A>T
c.6259A>T (p.Met2087Leu)
n.5965A>T
c.6568A>T (p.Met2190Leu)
c.5761A>T (p.Met1921Leu)
c.2062A>T (p.Met688Leu)
c.6148A>T (p.Met2050Leu)
c.5512A>T (p.Met1838Leu)
c.2302A>T (p.Met768Leu)
5g.177293937T>ACA362324028NSD1c.5696T>A (p.Met1899Lys)
c.1211T>A (p.Met404Lys)
n.6152T>A
n.985T>A
c.6260T>A (p.Met2087Lys)
n.5966T>A
c.6569T>A (p.Met2190Lys)
c.5762T>A (p.Met1921Lys)
c.2063T>A (p.Met688Lys)
c.6149T>A (p.Met2050Lys)
c.5513T>A (p.Met1838Lys)
c.2303T>A (p.Met768Lys)
5g.177293937T>CCA362324029NSD1c.5696T>C (p.Met1899Thr)
c.1211T>C (p.Met404Thr)
n.6152T>C
n.985T>C
c.6260T>C (p.Met2087Thr)
n.5966T>C
c.6569T>C (p.Met2190Thr)
c.5762T>C (p.Met1921Thr)
c.2063T>C (p.Met688Thr)
c.6149T>C (p.Met2050Thr)
c.5513T>C (p.Met1838Thr)
c.2303T>C (p.Met768Thr)
 gnomAD v4
5g.177293937T>GCA362324032NSD1c.5696T>G (p.Met1899Arg)
c.1211T>G (p.Met404Arg)
n.6152T>G
n.985T>G
c.6260T>G (p.Met2087Arg)
n.5966T>G
c.6569T>G (p.Met2190Arg)
c.5762T>G (p.Met1921Arg)
c.2063T>G (p.Met688Arg)
c.6149T>G (p.Met2050Arg)
c.5513T>G (p.Met1838Arg)
c.2303T>G (p.Met768Arg)
5g.177293938G>ACA362324042NSD1c.5697G>A (p.Met1899Ile)
c.1212G>A (p.Met404Ile)
n.6153G>A
n.986G>A
c.6261G>A (p.Met2087Ile)
n.5967G>A
c.6570G>A (p.Met2190Ile)
c.5763G>A (p.Met1921Ile)
c.2064G>A (p.Met688Ile)
c.6150G>A (p.Met2050Ile)
c.5514G>A (p.Met1838Ile)
c.2304G>A (p.Met768Ile)
5g.177293938G>CCA362324036NSD1c.5697G>C (p.Met1899Ile)
c.1212G>C (p.Met404Ile)
n.6153G>C
n.986G>C
c.6261G>C (p.Met2087Ile)
n.5967G>C
c.6570G>C (p.Met2190Ile)
c.5763G>C (p.Met1921Ile)
c.2064G>C (p.Met688Ile)
c.6150G>C (p.Met2050Ile)
c.5514G>C (p.Met1838Ile)
c.2304G>C (p.Met768Ile)
5g.177293938G>TCA362324038NSD1c.5697G>T (p.Met1899Ile)
c.1212G>T (p.Met404Ile)
n.6153G>T
n.986G>T
c.6261G>T (p.Met2087Ile)
n.5967G>T
c.6570G>T (p.Met2190Ile)
c.5763G>T (p.Met1921Ile)
c.2064G>T (p.Met688Ile)
c.6150G>T (p.Met2050Ile)
c.5514G>T (p.Met1838Ile)
c.2304G>T (p.Met768Ile)
 dbSNP
5g.177293939C>ACA362324045NSD1c.5698C>A (p.Leu1900Ile)
c.1213C>A (p.Leu405Ile)
n.6154C>A
n.987C>A
c.6262C>A (p.Leu2088Ile)
n.5968C>A
c.6571C>A (p.Leu2191Ile)
c.5764C>A (p.Leu1922Ile)
c.2065C>A (p.Leu689Ile)
c.6151C>A (p.Leu2051Ile)
c.5515C>A (p.Leu1839Ile)
c.2305C>A (p.Leu769Ile)
 dbSNP
5g.177293939C>GCA362324047NSD1c.5698C>G (p.Leu1900Val)
c.1213C>G (p.Leu405Val)
n.6154C>G
n.987C>G
c.6262C>G (p.Leu2088Val)
n.5968C>G
c.6571C>G (p.Leu2191Val)
c.5764C>G (p.Leu1922Val)
c.2065C>G (p.Leu689Val)
c.6151C>G (p.Leu2051Val)
c.5515C>G (p.Leu1839Val)
c.2305C>G (p.Leu769Val)
5g.177293939C>TCA362324051NSD1c.5698C>T (p.Leu1900Phe)
c.1213C>T (p.Leu405Phe)
n.6154C>T
n.987C>T
c.6262C>T (p.Leu2088Phe)
n.5968C>T
c.6571C>T (p.Leu2191Phe)
c.5764C>T (p.Leu1922Phe)
c.2065C>T (p.Leu689Phe)
c.6151C>T (p.Leu2051Phe)
c.5515C>T (p.Leu1839Phe)
c.2305C>T (p.Leu769Phe)
5g.177293939dupCA2739289829NSD1c.5698dup (p.Leu1900ProfsTer14)
c.1213dup (p.Leu405ProfsTer14)
n.6154dup
n.987dup
c.6262dup (p.Leu2088ProfsTer14)
n.5968dup
c.6571dup (p.Leu2191ProfsTer14)
c.5764dup (p.Leu1922ProfsTer14)
c.2065dup (p.Leu689ProfsTer14)
c.6151dup (p.Leu2051ProfsTer14)
c.5515dup (p.Leu1839ProfsTer14)
c.2305dup (p.Leu769ProfsTer14)
5g.177293940T>ACA362324055NSD1c.5699T>A (p.Leu1900His)
c.1214T>A (p.Leu405His)
n.6155T>A
n.988T>A
c.6263T>A (p.Leu2088His)
n.5969T>A
c.6572T>A (p.Leu2191His)
c.5765T>A (p.Leu1922His)
c.2066T>A (p.Leu689His)
c.6152T>A (p.Leu2051His)
c.5516T>A (p.Leu1839His)
c.2306T>A (p.Leu769His)
5g.177293940T>CCA362324058NSD1c.5699T>C (p.Leu1900Pro)
c.1214T>C (p.Leu405Pro)
n.6155T>C
n.988T>C
c.6263T>C (p.Leu2088Pro)
n.5969T>C
c.6572T>C (p.Leu2191Pro)
c.5765T>C (p.Leu1922Pro)
c.2066T>C (p.Leu689Pro)
c.6152T>C (p.Leu2051Pro)
c.5516T>C (p.Leu1839Pro)
c.2306T>C (p.Leu769Pro)
5g.177293940T>GCA362324059NSD1c.5699T>G (p.Leu1900Arg)
c.1214T>G (p.Leu405Arg)
n.6155T>G
n.988T>G
c.6263T>G (p.Leu2088Arg)
n.5969T>G
c.6572T>G (p.Leu2191Arg)
c.5765T>G (p.Leu1922Arg)
c.2066T>G (p.Leu689Arg)
c.6152T>G (p.Leu2051Arg)
c.5516T>G (p.Leu1839Arg)
c.2306T>G (p.Leu769Arg)
5g.177293941T>ACA447961403NSD1c.5700T>A (p.Leu1900=)
c.1215T>A (p.Leu405=)
n.6156T>A
n.989T>A
c.6264T>A (p.Leu2088=)
n.5970T>A
c.6573T>A (p.Leu2191=)
c.5766T>A (p.Leu1922=)
c.2067T>A (p.Leu689=)
c.6153T>A (p.Leu2051=)
c.5517T>A (p.Leu1839=)
c.2307T>A (p.Leu769=)
5g.177293941T>CCA447961405NSD1c.5700T>C (p.Leu1900=)
c.1215T>C (p.Leu405=)
n.6156T>C
n.989T>C
c.6264T>C (p.Leu2088=)
n.5970T>C
c.6573T>C (p.Leu2191=)
c.5766T>C (p.Leu1922=)
c.2067T>C (p.Leu689=)
c.6153T>C (p.Leu2051=)
c.5517T>C (p.Leu1839=)
c.2307T>C (p.Leu769=)
5g.177293941T>GCA447961406NSD1c.5700T>G (p.Leu1900=)
c.1215T>G (p.Leu405=)
n.6156T>G
n.989T>G
c.6264T>G (p.Leu2088=)
n.5970T>G
c.6573T>G (p.Leu2191=)
c.5766T>G (p.Leu1922=)
c.2067T>G (p.Leu689=)
c.6153T>G (p.Leu2051=)
c.5517T>G (p.Leu1839=)
c.2307T>G (p.Leu769=)
5g.177293942T>ACA362324064NSD1c.5701T>A (p.Phe1901Ile)
c.1216T>A (p.Phe406Ile)
n.6157T>A
n.990T>A
c.6265T>A (p.Phe2089Ile)
n.5971T>A
c.6574T>A (p.Phe2192Ile)
c.5767T>A (p.Phe1923Ile)
c.2068T>A (p.Phe690Ile)
c.6154T>A (p.Phe2052Ile)
c.5518T>A (p.Phe1840Ile)
c.2308T>A (p.Phe770Ile)
5g.177293942T>CCA362324067NSD1c.5701T>C (p.Phe1901Leu)
c.1216T>C (p.Phe406Leu)
n.6157T>C
n.990T>C
c.6265T>C (p.Phe2089Leu)
n.5971T>C
c.6574T>C (p.Phe2192Leu)
c.5767T>C (p.Phe1923Leu)
c.2068T>C (p.Phe690Leu)
c.6154T>C (p.Phe2052Leu)
c.5518T>C (p.Phe1840Leu)
c.2308T>C (p.Phe770Leu)
5g.177293942T>GCA362324070NSD1c.5701T>G (p.Phe1901Val)
c.1216T>G (p.Phe406Val)
n.6157T>G
n.990T>G
c.6265T>G (p.Phe2089Val)
n.5971T>G
c.6574T>G (p.Phe2192Val)
c.5767T>G (p.Phe1923Val)
c.2068T>G (p.Phe690Val)
c.6154T>G (p.Phe2052Val)
c.5518T>G (p.Phe1840Val)
c.2308T>G (p.Phe770Val)
5g.177293943T>ACA362324075NSD1c.5702T>A (p.Phe1901Tyr)
c.1217T>A (p.Phe406Tyr)
n.6158T>A
n.991T>A
c.6266T>A (p.Phe2089Tyr)
n.5972T>A
c.6575T>A (p.Phe2192Tyr)
c.5768T>A (p.Phe1923Tyr)
c.2069T>A (p.Phe690Tyr)
c.6155T>A (p.Phe2052Tyr)
c.5519T>A (p.Phe1840Tyr)
c.2309T>A (p.Phe770Tyr)
5g.177293943T>CCA362324080NSD1c.5702T>C (p.Phe1901Ser)
c.1217T>C (p.Phe406Ser)
n.6158T>C
n.991T>C
c.6266T>C (p.Phe2089Ser)
n.5972T>C
c.6575T>C (p.Phe2192Ser)
c.5768T>C (p.Phe1923Ser)
c.2069T>C (p.Phe690Ser)
c.6155T>C (p.Phe2052Ser)
c.5519T>C (p.Phe1840Ser)
c.2309T>C (p.Phe770Ser)
5g.177293943T>GCA362324083NSD1c.5702T>G (p.Phe1901Cys)
c.1217T>G (p.Phe406Cys)
n.6158T>G
n.991T>G
c.6266T>G (p.Phe2089Cys)
n.5972T>G
c.6575T>G (p.Phe2192Cys)
c.5768T>G (p.Phe1923Cys)
c.2069T>G (p.Phe690Cys)
c.6155T>G (p.Phe2052Cys)
c.5519T>G (p.Phe1840Cys)
c.2309T>G (p.Phe770Cys)
5g.177293944C>ACA362324086NSD1c.5703C>A (p.Phe1901Leu)
c.1218C>A (p.Phe406Leu)
n.6159C>A
n.992C>A
c.6267C>A (p.Phe2089Leu)
n.5973C>A
c.6576C>A (p.Phe2192Leu)
c.5769C>A (p.Phe1923Leu)
c.2070C>A (p.Phe690Leu)
c.6156C>A (p.Phe2052Leu)
c.5520C>A (p.Phe1840Leu)
c.2310C>A (p.Phe770Leu)
5g.177293944C=CA1603535515NSD1c.5703C= (p.Phe1901=)
c.1218C= (p.Phe406=)
n.6159C=
n.992C=
c.6267C= (p.Phe2089=)
n.5973C=
c.6576C= (p.Phe2192=)
c.5769C= (p.Phe1923=)
c.2070C= (p.Phe690=)
c.6156C= (p.Phe2052=)
c.5520C= (p.Phe1840=)
c.2310C= (p.Phe770=)
5g.177293944C>GCA362324089NSD1c.5703C>G (p.Phe1901Leu)
c.1218C>G (p.Phe406Leu)
n.6159C>G
n.992C>G
c.6267C>G (p.Phe2089Leu)
n.5973C>G
c.6576C>G (p.Phe2192Leu)
c.5769C>G (p.Phe1923Leu)
c.2070C>G (p.Phe690Leu)
c.6156C>G (p.Phe2052Leu)
c.5520C>G (p.Phe1840Leu)
c.2310C>G (p.Phe770Leu)
5g.177293944C>TCA447961412NSD1c.5703C>T (p.Phe1901=)
c.1218C>T (p.Phe406=)
n.6159C>T
n.992C>T
c.6267C>T (p.Phe2089=)
n.5973C>T
c.6576C>T (p.Phe2192=)
c.5769C>T (p.Phe1923=)
c.2070C>T (p.Phe690=)
c.6156C>T (p.Phe2052=)
c.5520C>T (p.Phe1840=)
c.2310C>T (p.Phe770=)
 dbSNP gnomAD v4 COSMIC COSMIC
5g.177293945A>CCA362324093NSD1c.5704A>C (p.Ile1902Leu)
c.1219A>C (p.Ile407Leu)
n.6160A>C
n.993A>C
c.6268A>C (p.Ile2090Leu)
n.5974A>C
c.6577A>C (p.Ile2193Leu)
c.5770A>C (p.Ile1924Leu)
c.2071A>C (p.Ile691Leu)
c.6157A>C (p.Ile2053Leu)
c.5521A>C (p.Ile1841Leu)
c.2311A>C (p.Ile771Leu)
5g.177293945A>GCA362324095NSD1c.5704A>G (p.Ile1902Val)
c.1219A>G (p.Ile407Val)
n.6160A>G
n.993A>G
c.6268A>G (p.Ile2090Val)
n.5974A>G
c.6577A>G (p.Ile2193Val)
c.5770A>G (p.Ile1924Val)
c.2071A>G (p.Ile691Val)
c.6157A>G (p.Ile2053Val)
c.5521A>G (p.Ile1841Val)
c.2311A>G (p.Ile771Val)
5g.177293945A>TCA362324099NSD1c.5704A>T (p.Ile1902Phe)
c.1219A>T (p.Ile407Phe)
n.6160A>T
n.993A>T
c.6268A>T (p.Ile2090Phe)
n.5974A>T
c.6577A>T (p.Ile2193Phe)
c.5770A>T (p.Ile1924Phe)
c.2071A>T (p.Ile691Phe)
c.6157A>T (p.Ile2053Phe)
c.5521A>T (p.Ile1841Phe)
c.2311A>T (p.Ile771Phe)
5g.177293946T>ACA362324103NSD1c.5705T>A (p.Ile1902Asn)
c.1220T>A (p.Ile407Asn)
n.6161T>A
n.994T>A
c.6269T>A (p.Ile2090Asn)
n.5975T>A
c.6578T>A (p.Ile2193Asn)
c.5771T>A (p.Ile1924Asn)
c.2072T>A (p.Ile691Asn)
c.6158T>A (p.Ile2053Asn)
c.5522T>A (p.Ile1841Asn)
c.2312T>A (p.Ile771Asn)
5g.177293946T>CCA362324106NSD1c.5705T>C (p.Ile1902Thr)
c.1220T>C (p.Ile407Thr)
n.6161T>C
n.994T>C
c.6269T>C (p.Ile2090Thr)
n.5975T>C
c.6578T>C (p.Ile2193Thr)
c.5771T>C (p.Ile1924Thr)
c.2072T>C (p.Ile691Thr)
c.6158T>C (p.Ile2053Thr)
c.5522T>C (p.Ile1841Thr)
c.2312T>C (p.Ile771Thr)
5g.177293946T>GCA362324109NSD1c.5705T>G (p.Ile1902Ser)
c.1220T>G (p.Ile407Ser)
n.6161T>G
n.994T>G
c.6269T>G (p.Ile2090Ser)
n.5975T>G
c.6578T>G (p.Ile2193Ser)
c.5771T>G (p.Ile1924Ser)
c.2072T>G (p.Ile691Ser)
c.6158T>G (p.Ile2053Ser)
c.5522T>G (p.Ile1841Ser)
c.2312T>G (p.Ile771Ser)
5g.177293947T>ACA447961416NSD1c.5706T>A (p.Ile1902=)
c.1221T>A (p.Ile407=)
n.6162T>A
n.995T>A
c.6270T>A (p.Ile2090=)
n.5976T>A
c.6579T>A (p.Ile2193=)
c.5772T>A (p.Ile1924=)
c.2073T>A (p.Ile691=)
c.6159T>A (p.Ile2053=)
c.5523T>A (p.Ile1841=)
c.2313T>A (p.Ile771=)
5g.177293947T>CCA447961418NSD1c.5706T>C (p.Ile1902=)
c.1221T>C (p.Ile407=)
n.6162T>C
n.995T>C
c.6270T>C (p.Ile2090=)
n.5976T>C
c.6579T>C (p.Ile2193=)
c.5772T>C (p.Ile1924=)
c.2073T>C (p.Ile691=)
c.6159T>C (p.Ile2053=)
c.5523T>C (p.Ile1841=)
c.2313T>C (p.Ile771=)
5g.177293947T>GCA362324113NSD1c.5706T>G (p.Ile1902Met)
c.1221T>G (p.Ile407Met)
n.6162T>G
n.995T>G
c.6270T>G (p.Ile2090Met)
n.5976T>G
c.6579T>G (p.Ile2193Met)
c.5772T>G (p.Ile1924Met)
c.2073T>G (p.Ile691Met)
c.6159T>G (p.Ile2053Met)
c.5523T>G (p.Ile1841Met)
c.2313T>G (p.Ile771Met)
5g.177293948T>ACA362324117NSD1c.5707T>A (p.Ser1903Thr)
c.1222T>A (p.Ser408Thr)
n.6163T>A
n.996T>A
c.6271T>A (p.Ser2091Thr)
n.5977T>A
c.6580T>A (p.Ser2194Thr)
c.5773T>A (p.Ser1925Thr)
c.2074T>A (p.Ser692Thr)
c.6160T>A (p.Ser2054Thr)
c.5524T>A (p.Ser1842Thr)
c.2314T>A (p.Ser772Thr)
5g.177293948T>CCA362324119NSD1c.5707T>C (p.Ser1903Pro)
c.1222T>C (p.Ser408Pro)
n.6163T>C
n.996T>C
c.6271T>C (p.Ser2091Pro)
n.5977T>C
c.6580T>C (p.Ser2194Pro)
c.5773T>C (p.Ser1925Pro)
c.2074T>C (p.Ser692Pro)
c.6160T>C (p.Ser2054Pro)
c.5524T>C (p.Ser1842Pro)
c.2314T>C (p.Ser772Pro)
5g.177293948T>GCA362324123NSD1c.5707T>G (p.Ser1903Ala)
c.1222T>G (p.Ser408Ala)
n.6163T>G
n.996T>G
c.6271T>G (p.Ser2091Ala)
n.5977T>G
c.6580T>G (p.Ser2194Ala)
c.5773T>G (p.Ser1925Ala)
c.2074T>G (p.Ser692Ala)
c.6160T>G (p.Ser2054Ala)
c.5524T>G (p.Ser1842Ala)
c.2314T>G (p.Ser772Ala)
5g.177293949C>ACA362324126NSD1c.5708C>A (p.Ser1903Tyr)
c.1223C>A (p.Ser408Tyr)
n.6164C>A
n.997C>A
c.6272C>A (p.Ser2091Tyr)
n.5978C>A
c.6581C>A (p.Ser2194Tyr)
c.5774C>A (p.Ser1925Tyr)
c.2075C>A (p.Ser692Tyr)
c.6161C>A (p.Ser2054Tyr)
c.5525C>A (p.Ser1842Tyr)
c.2315C>A (p.Ser772Tyr)
5g.177293949C>GCA362324127NSD1c.5708C>G (p.Ser1903Cys)
c.1223C>G (p.Ser408Cys)
n.6164C>G
n.997C>G
c.6272C>G (p.Ser2091Cys)
n.5978C>G
c.6581C>G (p.Ser2194Cys)
c.5774C>G (p.Ser1925Cys)
c.2075C>G (p.Ser692Cys)
c.6161C>G (p.Ser2054Cys)
c.5525C>G (p.Ser1842Cys)
c.2315C>G (p.Ser772Cys)
5g.177293949C>TCA362324130NSD1c.5708C>T (p.Ser1903Phe)
c.1223C>T (p.Ser408Phe)
n.6164C>T
n.997C>T
c.6272C>T (p.Ser2091Phe)
n.5978C>T
c.6581C>T (p.Ser2194Phe)
c.5774C>T (p.Ser1925Phe)
c.2075C>T (p.Ser692Phe)
c.6161C>T (p.Ser2054Phe)
c.5525C>T (p.Ser1842Phe)
c.2315C>T (p.Ser772Phe)
 dbSNP gnomAD v4
5g.177293950C>ACA447961424NSD1c.5709C>A (p.Ser1903=)
c.1224C>A (p.Ser408=)
n.6165C>A
n.998C>A
c.6273C>A (p.Ser2091=)
n.5979C>A
c.6582C>A (p.Ser2194=)
c.5775C>A (p.Ser1925=)
c.2076C>A (p.Ser692=)
c.6162C>A (p.Ser2054=)
c.5526C>A (p.Ser1842=)
c.2316C>A (p.Ser772=)
5g.177293950C>GCA447961425NSD1c.5709C>G (p.Ser1903=)
c.1224C>G (p.Ser408=)
n.6165C>G
n.998C>G
c.6273C>G (p.Ser2091=)
n.5979C>G
c.6582C>G (p.Ser2194=)
c.5775C>G (p.Ser1925=)
c.2076C>G (p.Ser692=)
c.6162C>G (p.Ser2054=)
c.5526C>G (p.Ser1842=)
c.2316C>G (p.Ser772=)
5g.177293950C>TCA447961426NSD1c.5709C>T (p.Ser1903=)
c.1224C>T (p.Ser408=)
n.6165C>T
n.998C>T
c.6273C>T (p.Ser2091=)
n.5979C>T
c.6582C>T (p.Ser2194=)
c.5775C>T (p.Ser1925=)
c.2076C>T (p.Ser692=)
c.6162C>T (p.Ser2054=)
c.5526C>T (p.Ser1842=)
c.2316C>T (p.Ser772=)
5g.177293951A>CCA362324139NSD1c.5710A>C (p.Lys1904Gln)
c.1225A>C (p.Lys409Gln)
n.6166A>C
n.999A>C
c.6274A>C (p.Lys2092Gln)
n.5980A>C
c.6583A>C (p.Lys2195Gln)
c.5776A>C (p.Lys1926Gln)
c.2077A>C (p.Lys693Gln)
c.6163A>C (p.Lys2055Gln)
c.5527A>C (p.Lys1843Gln)
c.2317A>C (p.Lys773Gln)
5g.177293951A>GCA362324135NSD1c.5710A>G (p.Lys1904Glu)
c.1225A>G (p.Lys409Glu)
n.6166A>G
n.999A>G
c.6274A>G (p.Lys2092Glu)
n.5980A>G
c.6583A>G (p.Lys2195Glu)
c.5776A>G (p.Lys1926Glu)
c.2077A>G (p.Lys693Glu)
c.6163A>G (p.Lys2055Glu)
c.5527A>G (p.Lys1843Glu)
c.2317A>G (p.Lys773Glu)
5g.177293951A>TCA362324137NSD1c.5710A>T (p.Lys1904Ter)
c.1225A>T (p.Lys409Ter)
n.6166A>T
n.999A>T
c.6274A>T (p.Lys2092Ter)
n.5980A>T
c.6583A>T (p.Lys2195Ter)
c.5776A>T (p.Lys1926Ter)
c.2077A>T (p.Lys693Ter)
c.6163A>T (p.Lys2055Ter)
c.5527A>T (p.Lys1843Ter)
c.2317A>T (p.Lys773Ter)
5g.177293952A>CCA362324143NSD1c.5711A>C (p.Lys1904Thr)
c.1226A>C (p.Lys409Thr)
n.6167A>C
n.1000A>C
c.6275A>C (p.Lys2092Thr)
n.5981A>C
c.6584A>C (p.Lys2195Thr)
c.5777A>C (p.Lys1926Thr)
c.2078A>C (p.Lys693Thr)
c.6164A>C (p.Lys2055Thr)
c.5528A>C (p.Lys1843Thr)
c.2318A>C (p.Lys773Thr)
5g.177293952A>GCA362324145NSD1c.5711A>G (p.Lys1904Arg)
c.1226A>G (p.Lys409Arg)
n.6167A>G
n.1000A>G
c.6275A>G (p.Lys2092Arg)
n.5981A>G
c.6584A>G (p.Lys2195Arg)
c.5777A>G (p.Lys1926Arg)
c.2078A>G (p.Lys693Arg)
c.6164A>G (p.Lys2055Arg)
c.5528A>G (p.Lys1843Arg)
c.2318A>G (p.Lys773Arg)
5g.177293952A>TCA362324148NSD1c.5711A>T (p.Lys1904Ile)
c.1226A>T (p.Lys409Ile)
n.6167A>T
n.1000A>T
c.6275A>T (p.Lys2092Ile)
n.5981A>T
c.6584A>T (p.Lys2195Ile)
c.5777A>T (p.Lys1926Ile)
c.2078A>T (p.Lys693Ile)
c.6164A>T (p.Lys2055Ile)
c.5528A>T (p.Lys1843Ile)
c.2318A>T (p.Lys773Ile)
5g.177293953A>CCA362324152NSD1c.5712A>C (p.Lys1904Asn)
c.1227A>C (p.Lys409Asn)
n.6168A>C
n.1001A>C
c.6276A>C (p.Lys2092Asn)
n.5982A>C
c.6585A>C (p.Lys2195Asn)
c.5778A>C (p.Lys1926Asn)
c.2079A>C (p.Lys693Asn)
c.6165A>C (p.Lys2055Asn)
c.5529A>C (p.Lys1843Asn)
c.2319A>C (p.Lys773Asn)
5g.177293953A>GCA447961432NSD1c.5712A>G (p.Lys1904=)
c.1227A>G (p.Lys409=)
n.6168A>G
n.1001A>G
c.6276A>G (p.Lys2092=)
n.5982A>G
c.6585A>G (p.Lys2195=)
c.5778A>G (p.Lys1926=)
c.2079A>G (p.Lys693=)
c.6165A>G (p.Lys2055=)
c.5529A>G (p.Lys1843=)
c.2319A>G (p.Lys773=)
 gnomAD v4
5g.177293953A>TCA362324155NSD1c.5712A>T (p.Lys1904Asn)
c.1227A>T (p.Lys409Asn)
n.6168A>T
n.1001A>T
c.6276A>T (p.Lys2092Asn)
n.5982A>T
c.6585A>T (p.Lys2195Asn)
c.5778A>T (p.Lys1926Asn)
c.2079A>T (p.Lys693Asn)
c.6165A>T (p.Lys2055Asn)
c.5529A>T (p.Lys1843Asn)
c.2319A>T (p.Lys773Asn)
5g.177293954C>ACA362324158NSD1c.5713C>A (p.Leu1905Met)
c.1228C>A (p.Leu410Met)
n.6169C>A
n.1002C>A
c.6277C>A (p.Leu2093Met)
n.5983C>A
c.6586C>A (p.Leu2196Met)
c.5779C>A (p.Leu1927Met)
c.2080C>A (p.Leu694Met)
c.6166C>A (p.Leu2056Met)
c.5530C>A (p.Leu1844Met)
c.2320C>A (p.Leu774Met)
5g.177293954C>GCA362324160NSD1c.5713C>G (p.Leu1905Val)
c.1228C>G (p.Leu410Val)
n.6169C>G
n.1002C>G
c.6277C>G (p.Leu2093Val)
n.5983C>G
c.6586C>G (p.Leu2196Val)
c.5779C>G (p.Leu1927Val)
c.2080C>G (p.Leu694Val)
c.6166C>G (p.Leu2056Val)
c.5530C>G (p.Leu1844Val)
c.2320C>G (p.Leu774Val)
5g.177293954C>TCA447961434NSD1c.5713C>T (p.Leu1905=)
c.1228C>T (p.Leu410=)
n.6169C>T
n.1002C>T
c.6277C>T (p.Leu2093=)
n.5983C>T
c.6586C>T (p.Leu2196=)
c.5779C>T (p.Leu1927=)
c.2080C>T (p.Leu694=)
c.6166C>T (p.Leu2056=)
c.5530C>T (p.Leu1844=)
c.2320C>T (p.Leu774=)
 dbSNP
5g.177293955T>ACA362324165NSD1c.5714T>A (p.Leu1905Gln)
c.1229T>A (p.Leu410Gln)
n.6170T>A
n.1003T>A
c.6278T>A (p.Leu2093Gln)
n.5984T>A
c.6587T>A (p.Leu2196Gln)
c.5780T>A (p.Leu1927Gln)
c.2081T>A (p.Leu694Gln)
c.6167T>A (p.Leu2056Gln)
c.5531T>A (p.Leu1844Gln)
c.2321T>A (p.Leu774Gln)
5g.177293955T>CCA362324167NSD1c.5714T>C (p.Leu1905Pro)
c.1229T>C (p.Leu410Pro)
n.6170T>C
n.1003T>C
c.6278T>C (p.Leu2093Pro)
n.5984T>C
c.6587T>C (p.Leu2196Pro)
c.5780T>C (p.Leu1927Pro)
c.2081T>C (p.Leu694Pro)
c.6167T>C (p.Leu2056Pro)
c.5531T>C (p.Leu1844Pro)
c.2321T>C (p.Leu774Pro)
5g.177293955T>GCA362324168NSD1c.5714T>G (p.Leu1905Arg)
c.1229T>G (p.Leu410Arg)
n.6170T>G
n.1003T>G
c.6278T>G (p.Leu2093Arg)
n.5984T>G
c.6587T>G (p.Leu2196Arg)
c.5780T>G (p.Leu1927Arg)
c.2081T>G (p.Leu694Arg)
c.6167T>G (p.Leu2056Arg)
c.5531T>G (p.Leu1844Arg)
c.2321T>G (p.Leu774Arg)
5g.177293956G>ACA447961439NSD1c.5715G>A (p.Leu1905=)
c.1230G>A (p.Leu410=)
n.6171G>A
n.1004G>A
c.6279G>A (p.Leu2093=)
n.5985G>A
c.6588G>A (p.Leu2196=)
c.5781G>A (p.Leu1927=)
c.2082G>A (p.Leu694=)
c.6168G>A (p.Leu2056=)
c.5532G>A (p.Leu1844=)
c.2322G>A (p.Leu774=)
5g.177293956G>CCA447961436NSD1c.5715G>C (p.Leu1905=)
c.1230G>C (p.Leu410=)
n.6171G>C
n.1004G>C
c.6279G>C (p.Leu2093=)
n.5985G>C
c.6588G>C (p.Leu2196=)
c.5781G>C (p.Leu1927=)
c.2082G>C (p.Leu694=)
c.6168G>C (p.Leu2056=)
c.5532G>C (p.Leu1844=)
c.2322G>C (p.Leu774=)
5g.177293956G>TCA447961437NSD1c.5715G>T (p.Leu1905=)
c.1230G>T (p.Leu410=)
n.6171G>T
n.1004G>T
c.6279G>T (p.Leu2093=)
n.5985G>T
c.6588G>T (p.Leu2196=)
c.5781G>T (p.Leu1927=)
c.2082G>T (p.Leu694=)
c.6168G>T (p.Leu2056=)
c.5532G>T (p.Leu1844=)
c.2322G>T (p.Leu774=)
5g.177293957G>ACA362324173NSD1c.5716G>A (p.Asp1906Asn)
c.1231G>A (p.Asp411Asn)
n.6172G>A
n.1005G>A
c.6280G>A (p.Asp2094Asn)
n.5986G>A
c.6589G>A (p.Asp2197Asn)
c.5782G>A (p.Asp1928Asn)
c.2083G>A (p.Asp695Asn)
c.6169G>A (p.Asp2057Asn)
c.5533G>A (p.Asp1845Asn)
c.2323G>A (p.Asp775Asn)
5g.177293957G>CCA362324175NSD1c.5716G>C (p.Asp1906His)
c.1231G>C (p.Asp411His)
n.6172G>C
n.1005G>C
c.6280G>C (p.Asp2094His)
n.5986G>C
c.6589G>C (p.Asp2197His)
c.5782G>C (p.Asp1928His)
c.2083G>C (p.Asp695His)
c.6169G>C (p.Asp2057His)
c.5533G>C (p.Asp1845His)
c.2323G>C (p.Asp775His)
 dbSNP
5g.177293957G=CA1603535518NSD1c.5716G= (p.Asp1906=)
c.1231G= (p.Asp411=)
n.6172G=
n.1005G=
c.6280G= (p.Asp2094=)
n.5986G=
c.6589G= (p.Asp2197=)
c.5782G= (p.Asp1928=)
c.2083G= (p.Asp695=)
c.6169G= (p.Asp2057=)
c.5533G= (p.Asp1845=)
c.2323G= (p.Asp775=)
5g.177293957G>TCA362324178NSD1c.5716G>T (p.Asp1906Tyr)
c.1231G>T (p.Asp411Tyr)
n.6172G>T
n.1005G>T
c.6280G>T (p.Asp2094Tyr)
n.5986G>T
c.6589G>T (p.Asp2197Tyr)
c.5782G>T (p.Asp1928Tyr)
c.2083G>T (p.Asp695Tyr)
c.6169G>T (p.Asp2057Tyr)
c.5533G>T (p.Asp1845Tyr)
c.2323G>T (p.Asp775Tyr)
5g.177293958A>CCA362324182NSD1c.5717A>C (p.Asp1906Ala)
c.1232A>C (p.Asp411Ala)
n.6173A>C
n.1006A>C
c.6281A>C (p.Asp2094Ala)
n.5987A>C
c.6590A>C (p.Asp2197Ala)
c.5783A>C (p.Asp1928Ala)
c.2084A>C (p.Asp695Ala)
c.6170A>C (p.Asp2057Ala)
c.5534A>C (p.Asp1845Ala)
c.2324A>C (p.Asp775Ala)
5g.177293958A>GCA362324187NSD1c.5717A>G (p.Asp1906Gly)
c.1232A>G (p.Asp411Gly)
n.6173A>G
n.1006A>G
c.6281A>G (p.Asp2094Gly)
n.5987A>G
c.6590A>G (p.Asp2197Gly)
c.5783A>G (p.Asp1928Gly)
c.2084A>G (p.Asp695Gly)
c.6170A>G (p.Asp2057Gly)
c.5534A>G (p.Asp1845Gly)
c.2324A>G (p.Asp775Gly)
5g.177293958A>TCA362324181NSD1c.5717A>T (p.Asp1906Val)
c.1232A>T (p.Asp411Val)
n.6173A>T
n.1006A>T
c.6281A>T (p.Asp2094Val)
n.5987A>T
c.6590A>T (p.Asp2197Val)
c.5783A>T (p.Asp1928Val)
c.2084A>T (p.Asp695Val)
c.6170A>T (p.Asp2057Val)
c.5534A>T (p.Asp1845Val)
c.2324A>T (p.Asp775Val)
 gnomAD v4
5g.177293959T>ACA362324192NSD1c.5718T>A (p.Asp1906Glu)
c.1233T>A (p.Asp411Glu)
n.6174T>A
n.1007T>A
c.6282T>A (p.Asp2094Glu)
n.5988T>A
c.6591T>A (p.Asp2197Glu)
c.5784T>A (p.Asp1928Glu)
c.2085T>A (p.Asp695Glu)
c.6171T>A (p.Asp2057Glu)
c.5535T>A (p.Asp1845Glu)
c.2325T>A (p.Asp775Glu)
5g.177293959T>CCA447961447NSD1c.5718T>C (p.Asp1906=)
c.1233T>C (p.Asp411=)
n.6174T>C
n.1007T>C
c.6282T>C (p.Asp2094=)
n.5988T>C
c.6591T>C (p.Asp2197=)
c.5784T>C (p.Asp1928=)
c.2085T>C (p.Asp695=)
c.6171T>C (p.Asp2057=)
c.5535T>C (p.Asp1845=)
c.2325T>C (p.Asp775=)
 dbSNP
5g.177293959T>GCA362324190NSD1c.5718T>G (p.Asp1906Glu)
c.1233T>G (p.Asp411Glu)
n.6174T>G
n.1007T>G
c.6282T>G (p.Asp2094Glu)
n.5988T>G
c.6591T>G (p.Asp2197Glu)
c.5784T>G (p.Asp1928Glu)
c.2085T>G (p.Asp695Glu)
c.6171T>G (p.Asp2057Glu)
c.5535T>G (p.Asp1845Glu)
c.2325T>G (p.Asp775Glu)
5g.177293960G>ACA362324195NSD1c.5719G>A (p.Gly1907Arg)
c.1234G>A (p.Gly412Arg)
n.6175G>A
n.1008G>A
c.6283G>A (p.Gly2095Arg)
n.5989G>A
c.6592G>A (p.Gly2198Arg)
c.5785G>A (p.Gly1929Arg)
c.2086G>A (p.Gly696Arg)
c.6172G>A (p.Gly2058Arg)
c.5536G>A (p.Gly1846Arg)
c.2326G>A (p.Gly776Arg)
5g.177293960G>CCA362324197NSD1c.5719G>C (p.Gly1907Arg)
c.1234G>C (p.Gly412Arg)
n.6175G>C
n.1008G>C
c.6283G>C (p.Gly2095Arg)
n.5989G>C
c.6592G>C (p.Gly2198Arg)
c.5785G>C (p.Gly1929Arg)
c.2086G>C (p.Gly696Arg)
c.6172G>C (p.Gly2058Arg)
c.5536G>C (p.Gly1846Arg)
c.2326G>C (p.Gly776Arg)
5g.177293960G>TCA362324208NSD1c.5719G>T (p.Gly1907Trp)
c.1234G>T (p.Gly412Trp)
n.6175G>T
n.1008G>T
c.6283G>T (p.Gly2095Trp)
n.5989G>T
c.6592G>T (p.Gly2198Trp)
c.5785G>T (p.Gly1929Trp)
c.2086G>T (p.Gly696Trp)
c.6172G>T (p.Gly2058Trp)
c.5536G>T (p.Gly1846Trp)
c.2326G>T (p.Gly776Trp)
5g.177293961G>ACA362324211NSD1c.5720G>A (p.Gly1907Glu)
c.1235G>A (p.Gly412Glu)
n.6176G>A
n.1009G>A
c.6284G>A (p.Gly2095Glu)
n.5990G>A
c.6593G>A (p.Gly2198Glu)
c.5786G>A (p.Gly1929Glu)
c.2087G>A (p.Gly696Glu)
c.6173G>A (p.Gly2058Glu)
c.5537G>A (p.Gly1846Glu)
c.2327G>A (p.Gly776Glu)
5g.177293961G>CCA362324213NSD1c.5720G>C (p.Gly1907Ala)
c.1235G>C (p.Gly412Ala)
n.6176G>C
n.1009G>C
c.6284G>C (p.Gly2095Ala)
n.5990G>C
c.6593G>C (p.Gly2198Ala)
c.5786G>C (p.Gly1929Ala)
c.2087G>C (p.Gly696Ala)
c.6173G>C (p.Gly2058Ala)
c.5537G>C (p.Gly1846Ala)
c.2327G>C (p.Gly776Ala)
5g.177293961G>TCA362324216NSD1c.5720G>T (p.Gly1907Val)
c.1235G>T (p.Gly412Val)
n.6176G>T
n.1009G>T
c.6284G>T (p.Gly2095Val)
n.5990G>T
c.6593G>T (p.Gly2198Val)
c.5786G>T (p.Gly1929Val)
c.2087G>T (p.Gly696Val)
c.6173G>T (p.Gly2058Val)
c.5537G>T (p.Gly1846Val)
c.2327G>T (p.Gly776Val)
5g.177293962G>ACA447961456NSD1c.5721G>A (p.Gly1907=)
c.1236G>A (p.Gly412=)
n.6177G>A
n.1010G>A
c.6285G>A (p.Gly2095=)
n.5991G>A
c.6594G>A (p.Gly2198=)
c.5787G>A (p.Gly1929=)
c.2088G>A (p.Gly696=)
c.6174G>A (p.Gly2058=)
c.5538G>A (p.Gly1846=)
c.2328G>A (p.Gly776=)
5g.177293962G>CCA447961458NSD1c.5721G>C (p.Gly1907=)
c.1236G>C (p.Gly412=)
n.6177G>C
n.1010G>C
c.6285G>C (p.Gly2095=)
n.5991G>C
c.6594G>C (p.Gly2198=)
c.5787G>C (p.Gly1929=)
c.2088G>C (p.Gly696=)
c.6174G>C (p.Gly2058=)
c.5538G>C (p.Gly1846=)
c.2328G>C (p.Gly776=)
5g.177293962G>TCA447961457NSD1c.5721G>T (p.Gly1907=)
c.1236G>T (p.Gly412=)
n.6177G>T
n.1010G>T
c.6285G>T (p.Gly2095=)
n.5991G>T
c.6594G>T (p.Gly2198=)
c.5787G>T (p.Gly1929=)
c.2088G>T (p.Gly696=)
c.6174G>T (p.Gly2058=)
c.5538G>T (p.Gly1846=)
c.2328G>T (p.Gly776=)
 gnomAD v4

Number of alleles fetched