Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.177291973A>CCA362320069NSD1c.5405A>C (p.Glu1802Ala)
c.920A>C (p.Glu307Ala)
n.5861A>C
n.694A>C
c.5969A>C (p.Glu1990Ala)
n.5675A>C
c.6278A>C (p.Glu2093Ala)
c.5471A>C (p.Glu1824Ala)
n.420A>C
c.1772A>C (p.Glu591Ala)
c.5858A>C (p.Glu1953Ala)
c.5222A>C (p.Glu1741Ala)
c.2012A>C (p.Glu671Ala)
5g.177291973A>GCA362320067NSD1c.5405A>G (p.Glu1802Gly)
c.920A>G (p.Glu307Gly)
n.5861A>G
n.694A>G
c.5969A>G (p.Glu1990Gly)
n.5675A>G
c.6278A>G (p.Glu2093Gly)
c.5471A>G (p.Glu1824Gly)
n.420A>G
c.1772A>G (p.Glu591Gly)
c.5858A>G (p.Glu1953Gly)
c.5222A>G (p.Glu1741Gly)
c.2012A>G (p.Glu671Gly)
5g.177291973A>TCA362320073NSD1c.5405A>T (p.Glu1802Val)
c.920A>T (p.Glu307Val)
n.5861A>T
n.694A>T
c.5969A>T (p.Glu1990Val)
n.5675A>T
c.6278A>T (p.Glu2093Val)
c.5471A>T (p.Glu1824Val)
n.420A>T
c.1772A>T (p.Glu591Val)
c.5858A>T (p.Glu1953Val)
c.5222A>T (p.Glu1741Val)
c.2012A>T (p.Glu671Val)
5g.177291974A>CCA362320075NSD1c.5406A>C (p.Glu1802Asp)
c.921A>C (p.Glu307Asp)
n.5862A>C
n.695A>C
c.5970A>C (p.Glu1990Asp)
n.5676A>C
c.6279A>C (p.Glu2093Asp)
c.5472A>C (p.Glu1824Asp)
n.421A>C
c.1773A>C (p.Glu591Asp)
c.5859A>C (p.Glu1953Asp)
c.5223A>C (p.Glu1741Asp)
c.2013A>C (p.Glu671Asp)
5g.177291974A>GCA447740661NSD1c.5406A>G (p.Glu1802=)
c.921A>G (p.Glu307=)
n.5862A>G
n.695A>G
c.5970A>G (p.Glu1990=)
n.5676A>G
c.6279A>G (p.Glu2093=)
c.5472A>G (p.Glu1824=)
n.421A>G
c.1773A>G (p.Glu591=)
c.5859A>G (p.Glu1953=)
c.5223A>G (p.Glu1741=)
c.2013A>G (p.Glu671=)
5g.177291974A>TCA362320079NSD1c.5406A>T (p.Glu1802Asp)
c.921A>T (p.Glu307Asp)
n.5862A>T
n.695A>T
c.5970A>T (p.Glu1990Asp)
n.5676A>T
c.6279A>T (p.Glu2093Asp)
c.5472A>T (p.Glu1824Asp)
n.421A>T
c.1773A>T (p.Glu591Asp)
c.5859A>T (p.Glu1953Asp)
c.5223A>T (p.Glu1741Asp)
c.2013A>T (p.Glu671Asp)
5g.177291975G>ACA362320082NSD1c.5407G>A (p.Glu1803Lys)
c.922G>A (p.Glu308Lys)
n.5863G>A
n.696G>A
c.5971G>A (p.Glu1991Lys)
n.5677G>A
c.6280G>A (p.Glu2094Lys)
c.5473G>A (p.Glu1825Lys)
n.422G>A
c.1774G>A (p.Glu592Lys)
c.5860G>A (p.Glu1954Lys)
c.5224G>A (p.Glu1742Lys)
c.2014G>A (p.Glu672Lys)
 COSMIC COSMIC
5g.177291975G>CCA132861243NSD1c.5407G>C (p.Glu1803Gln)
c.922G>C (p.Glu308Gln)
n.5863G>C
n.696G>C
c.5971G>C (p.Glu1991Gln)
n.5677G>C
c.6280G>C (p.Glu2094Gln)
c.5473G>C (p.Glu1825Gln)
n.422G>C
c.1774G>C (p.Glu592Gln)
c.5860G>C (p.Glu1954Gln)
c.5224G>C (p.Glu1742Gln)
c.2014G>C (p.Glu672Gln)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.177291975G=CA1603532618NSD1c.5407G= (p.Glu1803=)
c.922G= (p.Glu308=)
n.5863G=
n.696G=
c.5971G= (p.Glu1991=)
n.5677G=
c.6280G= (p.Glu2094=)
c.5473G= (p.Glu1825=)
n.422G=
c.1774G= (p.Glu592=)
c.5860G= (p.Glu1954=)
c.5224G= (p.Glu1742=)
c.2014G= (p.Glu672=)
5g.177291975G>TCA362320087NSD1c.5407G>T (p.Glu1803Ter)
c.922G>T (p.Glu308Ter)
n.5863G>T
n.696G>T
c.5971G>T (p.Glu1991Ter)
n.5677G>T
c.6280G>T (p.Glu2094Ter)
c.5473G>T (p.Glu1825Ter)
n.422G>T
c.1774G>T (p.Glu592Ter)
c.5860G>T (p.Glu1954Ter)
c.5224G>T (p.Glu1742Ter)
c.2014G>T (p.Glu672Ter)
5g.177291976A>CCA362320090NSD1c.5408A>C (p.Glu1803Ala)
c.923A>C (p.Glu308Ala)
n.5864A>C
n.697A>C
c.5972A>C (p.Glu1991Ala)
n.5678A>C
c.6281A>C (p.Glu2094Ala)
c.5474A>C (p.Glu1825Ala)
n.423A>C
c.1775A>C (p.Glu592Ala)
c.5861A>C (p.Glu1954Ala)
c.5225A>C (p.Glu1742Ala)
c.2015A>C (p.Glu672Ala)
5g.177291976A>GCA362320093NSD1c.5408A>G (p.Glu1803Gly)
c.923A>G (p.Glu308Gly)
n.5864A>G
n.697A>G
c.5972A>G (p.Glu1991Gly)
n.5678A>G
c.6281A>G (p.Glu2094Gly)
c.5474A>G (p.Glu1825Gly)
n.423A>G
c.1775A>G (p.Glu592Gly)
c.5861A>G (p.Glu1954Gly)
c.5225A>G (p.Glu1742Gly)
c.2015A>G (p.Glu672Gly)
5g.177291976A>TCA362320095NSD1c.5408A>T (p.Glu1803Val)
c.923A>T (p.Glu308Val)
n.5864A>T
n.697A>T
c.5972A>T (p.Glu1991Val)
n.5678A>T
c.6281A>T (p.Glu2094Val)
c.5474A>T (p.Glu1825Val)
n.423A>T
c.1775A>T (p.Glu592Val)
c.5861A>T (p.Glu1954Val)
c.5225A>T (p.Glu1742Val)
c.2015A>T (p.Glu672Val)
5g.177291977A=CA1603532621NSD1c.5409A= (p.Glu1803=)
c.924A= (p.Glu308=)
n.5865A=
n.698A=
c.5973A= (p.Glu1991=)
n.5679A=
c.6282A= (p.Glu2094=)
c.5475A= (p.Glu1825=)
n.424A=
c.1776A= (p.Glu592=)
c.5862A= (p.Glu1954=)
c.5226A= (p.Glu1742=)
c.2016A= (p.Glu672=)
5g.177291977A>CCA362320097NSD1c.5409A>C (p.Glu1803Asp)
c.924A>C (p.Glu308Asp)
n.5865A>C
n.698A>C
c.5973A>C (p.Glu1991Asp)
n.5679A>C
c.6282A>C (p.Glu2094Asp)
c.5475A>C (p.Glu1825Asp)
n.424A>C
c.1776A>C (p.Glu592Asp)
c.5862A>C (p.Glu1954Asp)
c.5226A>C (p.Glu1742Asp)
c.2016A>C (p.Glu672Asp)
5g.177291977A>GCA447740663NSD1c.5409A>G (p.Glu1803=)
c.924A>G (p.Glu308=)
n.5865A>G
n.698A>G
c.5973A>G (p.Glu1991=)
n.5679A>G
c.6282A>G (p.Glu2094=)
c.5475A>G (p.Glu1825=)
n.424A>G
c.1776A>G (p.Glu592=)
c.5862A>G (p.Glu1954=)
c.5226A>G (p.Glu1742=)
c.2016A>G (p.Glu672=)
 dbSNP gnomAD v2 gnomAD v4
5g.177291977A>TCA362320099NSD1c.5409A>T (p.Glu1803Asp)
c.924A>T (p.Glu308Asp)
n.5865A>T
n.698A>T
c.5973A>T (p.Glu1991Asp)
n.5679A>T
c.6282A>T (p.Glu2094Asp)
c.5475A>T (p.Glu1825Asp)
n.424A>T
c.1776A>T (p.Glu592Asp)
c.5862A>T (p.Glu1954Asp)
c.5226A>T (p.Glu1742Asp)
c.2016A>T (p.Glu672Asp)
5g.177291978A>CCA362320102NSD1c.5410A>C (p.Lys1804Gln)
c.925A>C (p.Lys309Gln)
n.5866A>C
n.699A>C
c.5974A>C (p.Lys1992Gln)
n.5680A>C
c.6283A>C (p.Lys2095Gln)
c.5476A>C (p.Lys1826Gln)
n.425A>C
c.1777A>C (p.Lys593Gln)
c.5863A>C (p.Lys1955Gln)
c.5227A>C (p.Lys1743Gln)
c.2017A>C (p.Lys673Gln)
5g.177291978A>GCA362320104NSD1c.5410A>G (p.Lys1804Glu)
c.925A>G (p.Lys309Glu)
n.5866A>G
n.699A>G
c.5974A>G (p.Lys1992Glu)
n.5680A>G
c.6283A>G (p.Lys2095Glu)
c.5476A>G (p.Lys1826Glu)
n.425A>G
c.1777A>G (p.Lys593Glu)
c.5863A>G (p.Lys1955Glu)
c.5227A>G (p.Lys1743Glu)
c.2017A>G (p.Lys673Glu)
5g.177291978A>TCA362320108NSD1c.5410A>T (p.Lys1804Ter)
c.925A>T (p.Lys309Ter)
n.5866A>T
n.699A>T
c.5974A>T (p.Lys1992Ter)
n.5680A>T
c.6283A>T (p.Lys2095Ter)
c.5476A>T (p.Lys1826Ter)
n.425A>T
c.1777A>T (p.Lys593Ter)
c.5863A>T (p.Lys1955Ter)
c.5227A>T (p.Lys1743Ter)
c.2017A>T (p.Lys673Ter)
5g.177291980_177291984delCA2695205734NSD1c.5412_5416del (p.Ser1805GlufsTer15)
c.927_931del (p.Ser310GlufsTer15)
n.5868_5872del
n.701_705del
c.5976_5980del (p.Ser1993GlufsTer15)
n.5682_5686del
c.6285_6289del (p.Ser2096GlufsTer15)
c.5478_5482del (p.Ser1827GlufsTer15)
n.427_431del
c.1779_1783del (p.Ser594GlufsTer15)
c.5865_5869del (p.Ser1956GlufsTer15)
c.5229_5233del (p.Ser1744GlufsTer15)
c.2019_2023del (p.Ser674GlufsTer15)
5g.177291979A>CCA362320116NSD1c.5411A>C (p.Lys1804Thr)
c.926A>C (p.Lys309Thr)
n.5867A>C
n.700A>C
c.5975A>C (p.Lys1992Thr)
n.5681A>C
c.6284A>C (p.Lys2095Thr)
c.5477A>C (p.Lys1826Thr)
n.426A>C
c.1778A>C (p.Lys593Thr)
c.5864A>C (p.Lys1955Thr)
c.5228A>C (p.Lys1743Thr)
c.2018A>C (p.Lys673Thr)
5g.177291979A>GCA362320111NSD1c.5411A>G (p.Lys1804Arg)
c.926A>G (p.Lys309Arg)
n.5867A>G
n.700A>G
c.5975A>G (p.Lys1992Arg)
n.5681A>G
c.6284A>G (p.Lys2095Arg)
c.5477A>G (p.Lys1826Arg)
n.426A>G
c.1778A>G (p.Lys593Arg)
c.5864A>G (p.Lys1955Arg)
c.5228A>G (p.Lys1743Arg)
c.2018A>G (p.Lys673Arg)
5g.177291979A>TCA362320113NSD1c.5411A>T (p.Lys1804Met)
c.926A>T (p.Lys309Met)
n.5867A>T
n.700A>T
c.5975A>T (p.Lys1992Met)
n.5681A>T
c.6284A>T (p.Lys2095Met)
c.5477A>T (p.Lys1826Met)
n.426A>T
c.1778A>T (p.Lys593Met)
c.5864A>T (p.Lys1955Met)
c.5228A>T (p.Lys1743Met)
c.2018A>T (p.Lys673Met)
5g.177291980G>ACA447740666NSD1c.5412G>A (p.Lys1804=)
c.927G>A (p.Lys309=)
n.5868G>A
n.701G>A
c.5976G>A (p.Lys1992=)
n.5682G>A
c.6285G>A (p.Lys2095=)
c.5478G>A (p.Lys1826=)
n.427G>A
c.1779G>A (p.Lys593=)
c.5865G>A (p.Lys1955=)
c.5229G>A (p.Lys1743=)
c.2019G>A (p.Lys673=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.177291980G>CCA362320119NSD1c.5412G>C (p.Lys1804Asn)
c.927G>C (p.Lys309Asn)
n.5868G>C
n.701G>C
c.5976G>C (p.Lys1992Asn)
n.5682G>C
c.6285G>C (p.Lys2095Asn)
c.5478G>C (p.Lys1826Asn)
n.427G>C
c.1779G>C (p.Lys593Asn)
c.5865G>C (p.Lys1955Asn)
c.5229G>C (p.Lys1743Asn)
c.2019G>C (p.Lys673Asn)
5g.177291980G=CA1603532629NSD1c.5412G= (p.Lys1804=)
c.927G= (p.Lys309=)
n.5868G=
n.701G=
c.5976G= (p.Lys1992=)
n.5682G=
c.6285G= (p.Lys2095=)
c.5478G= (p.Lys1826=)
n.427G=
c.1779G= (p.Lys593=)
c.5865G= (p.Lys1955=)
c.5229G= (p.Lys1743=)
c.2019G= (p.Lys673=)
5g.177291980G>TCA362320122NSD1c.5412G>T (p.Lys1804Asn)
c.927G>T (p.Lys309Asn)
n.5868G>T
n.701G>T
c.5976G>T (p.Lys1992Asn)
n.5682G>T
c.6285G>T (p.Lys2095Asn)
c.5478G>T (p.Lys1826Asn)
n.427G>T
c.1779G>T (p.Lys593Asn)
c.5865G>T (p.Lys1955Asn)
c.5229G>T (p.Lys1743Asn)
c.2019G>T (p.Lys673Asn)
5g.177291981T>ACA362320125NSD1c.5413T>A (p.Ser1805Thr)
c.928T>A (p.Ser310Thr)
n.5869T>A
n.702T>A
c.5977T>A (p.Ser1993Thr)
n.5683T>A
c.6286T>A (p.Ser2096Thr)
c.5479T>A (p.Ser1827Thr)
n.428T>A
c.1780T>A (p.Ser594Thr)
c.5866T>A (p.Ser1956Thr)
c.5230T>A (p.Ser1744Thr)
c.2020T>A (p.Ser674Thr)
 dbSNP
5g.177291981T>CCA362320128NSD1c.5413T>C (p.Ser1805Pro)
c.928T>C (p.Ser310Pro)
n.5869T>C
n.702T>C
c.5977T>C (p.Ser1993Pro)
n.5683T>C
c.6286T>C (p.Ser2096Pro)
c.5479T>C (p.Ser1827Pro)
n.428T>C
c.1780T>C (p.Ser594Pro)
c.5866T>C (p.Ser1956Pro)
c.5230T>C (p.Ser1744Pro)
c.2020T>C (p.Ser674Pro)
5g.177291981T>GCA362320131NSD1c.5413T>G (p.Ser1805Ala)
c.928T>G (p.Ser310Ala)
n.5869T>G
n.702T>G
c.5977T>G (p.Ser1993Ala)
n.5683T>G
c.6286T>G (p.Ser2096Ala)
c.5479T>G (p.Ser1827Ala)
n.428T>G
c.1780T>G (p.Ser594Ala)
c.5866T>G (p.Ser1956Ala)
c.5230T>G (p.Ser1744Ala)
c.2020T>G (p.Ser674Ala)
5g.177291982C>ACA362320134NSD1c.5414C>A (p.Ser1805Ter)
c.929C>A (p.Ser310Ter)
n.5870C>A
n.703C>A
c.5978C>A (p.Ser1993Ter)
n.5684C>A
c.6287C>A (p.Ser2096Ter)
c.5480C>A (p.Ser1827Ter)
n.429C>A
c.1781C>A (p.Ser594Ter)
c.5867C>A (p.Ser1956Ter)
c.5231C>A (p.Ser1744Ter)
c.2021C>A (p.Ser674Ter)
5g.177291982C=CA1603532632NSD1c.5414C= (p.Ser1805=)
c.929C= (p.Ser310=)
n.5870C=
n.703C=
c.5978C= (p.Ser1993=)
n.5684C=
c.6287C= (p.Ser2096=)
c.5480C= (p.Ser1827=)
n.429C=
c.1781C= (p.Ser594=)
c.5867C= (p.Ser1956=)
c.5231C= (p.Ser1744=)
c.2021C= (p.Ser674=)
5g.177291982C>GCA362320135NSD1c.5414C>G (p.Ser1805Ter)
c.929C>G (p.Ser310Ter)
n.5870C>G
n.703C>G
c.5978C>G (p.Ser1993Ter)
n.5684C>G
c.6287C>G (p.Ser2096Ter)
c.5480C>G (p.Ser1827Ter)
n.429C>G
c.1781C>G (p.Ser594Ter)
c.5867C>G (p.Ser1956Ter)
c.5231C>G (p.Ser1744Ter)
c.2021C>G (p.Ser674Ter)
5g.177291982C>TCA362320138NSD1c.5414C>T (p.Ser1805Leu)
c.929C>T (p.Ser310Leu)
n.5870C>T
n.703C>T
c.5978C>T (p.Ser1993Leu)
n.5684C>T
c.6287C>T (p.Ser2096Leu)
c.5480C>T (p.Ser1827Leu)
n.429C>T
c.1781C>T (p.Ser594Leu)
c.5867C>T (p.Ser1956Leu)
c.5231C>T (p.Ser1744Leu)
c.2021C>T (p.Ser674Leu)
5g.177291983A>CCA447740671NSD1c.5415A>C (p.Ser1805=)
c.930A>C (p.Ser310=)
n.5871A>C
n.704A>C
c.5979A>C (p.Ser1993=)
n.5685A>C
c.6288A>C (p.Ser2096=)
c.5481A>C (p.Ser1827=)
n.430A>C
c.1782A>C (p.Ser594=)
c.5868A>C (p.Ser1956=)
c.5232A>C (p.Ser1744=)
c.2022A>C (p.Ser674=)
5g.177291983A>GCA447740672NSD1c.5415A>G (p.Ser1805=)
c.930A>G (p.Ser310=)
n.5871A>G
n.704A>G
c.5979A>G (p.Ser1993=)
n.5685A>G
c.6288A>G (p.Ser2096=)
c.5481A>G (p.Ser1827=)
n.430A>G
c.1782A>G (p.Ser594=)
c.5868A>G (p.Ser1956=)
c.5232A>G (p.Ser1744=)
c.2022A>G (p.Ser674=)
5g.177291983A>TCA447740673NSD1c.5415A>T (p.Ser1805=)
c.930A>T (p.Ser310=)
n.5871A>T
n.704A>T
c.5979A>T (p.Ser1993=)
n.5685A>T
c.6288A>T (p.Ser2096=)
c.5481A>T (p.Ser1827=)
n.430A>T
c.1782A>T (p.Ser594=)
c.5868A>T (p.Ser1956=)
c.5232A>T (p.Ser1744=)
c.2022A>T (p.Ser674=)
5g.177291985dupCA319737NSD1c.5417dup (p.Lys1807GlufsTer15)
c.932dup (p.Lys312GlufsTer15)
n.5873dup
n.706dup
c.5981dup (p.Lys1995GlufsTer15)
n.5687dup
c.6290dup (p.Lys2098GlufsTer15)
c.5483dup (p.Lys1829GlufsTer15)
n.432dup
c.1784dup (p.Lys596GlufsTer15)
c.5870dup (p.Lys1958GlufsTer15)
c.5234dup (p.Lys1746GlufsTer15)
c.2024dup (p.Lys676GlufsTer15)
 ClinVar dbSNP
5g.177291986_177291989delCA2499217788NSD1c.5418_5421del (p.Lys1806AsnfsTer?)
c.933_936del (p.Lys311AsnfsTer?)
n.5874_5877del
n.707_710del
c.5982_5985del (p.Lys1994AsnfsTer?)
n.5688_5691del
c.6291_6294del (p.Lys2097AsnfsTer?)
c.5484_5487del (p.Lys1828AsnfsTer?)
n.433_436del
c.1785_1788del (p.Lys595AsnfsTer?)
c.5871_5874del (p.Lys1957AsnfsTer?)
c.5235_5238del (p.Lys1745AsnfsTer?)
c.2025_2028del (p.Lys675AsnfsTer?)
 ClinVar dbSNP
5g.177291984A=CA1603532644NSD1c.5416A= (p.Lys1806=)
c.931A= (p.Lys311=)
n.5872A=
n.705A=
c.5980A= (p.Lys1994=)
n.5686A=
c.6289A= (p.Lys2097=)
c.5482A= (p.Lys1828=)
n.431A=
c.1783A= (p.Lys595=)
c.5869A= (p.Lys1957=)
c.5233A= (p.Lys1745=)
c.2023A= (p.Lys675=)
5g.177291984A>CCA362320142NSD1c.5416A>C (p.Lys1806Gln)
c.931A>C (p.Lys311Gln)
n.5872A>C
n.705A>C
c.5980A>C (p.Lys1994Gln)
n.5686A>C
c.6289A>C (p.Lys2097Gln)
c.5482A>C (p.Lys1828Gln)
n.431A>C
c.1783A>C (p.Lys595Gln)
c.5869A>C (p.Lys1957Gln)
c.5233A>C (p.Lys1745Gln)
c.2023A>C (p.Lys675Gln)
5g.177291984A>GCA16042522NSD1c.5416A>G (p.Lys1806Glu)
c.931A>G (p.Lys311Glu)
n.5872A>G
n.705A>G
c.5980A>G (p.Lys1994Glu)
n.5686A>G
c.6289A>G (p.Lys2097Glu)
c.5482A>G (p.Lys1828Glu)
n.431A>G
c.1783A>G (p.Lys595Glu)
c.5869A>G (p.Lys1957Glu)
c.5233A>G (p.Lys1745Glu)
c.2023A>G (p.Lys675Glu)
 ClinVar dbSNP
5g.177291984A>TCA362320145NSD1c.5416A>T (p.Lys1806Ter)
c.931A>T (p.Lys311Ter)
n.5872A>T
n.705A>T
c.5980A>T (p.Lys1994Ter)
n.5686A>T
c.6289A>T (p.Lys2097Ter)
c.5482A>T (p.Lys1828Ter)
n.431A>T
c.1783A>T (p.Lys595Ter)
c.5869A>T (p.Lys1957Ter)
c.5233A>T (p.Lys1745Ter)
c.2023A>T (p.Lys675Ter)
5g.177291985A>CCA362320154NSD1c.5417A>C (p.Lys1806Thr)
c.932A>C (p.Lys311Thr)
n.5873A>C
n.706A>C
c.5981A>C (p.Lys1994Thr)
n.5687A>C
c.6290A>C (p.Lys2097Thr)
c.5483A>C (p.Lys1828Thr)
n.432A>C
c.1784A>C (p.Lys595Thr)
c.5870A>C (p.Lys1957Thr)
c.5234A>C (p.Lys1745Thr)
c.2024A>C (p.Lys675Thr)
5g.177291985A>GCA362320151NSD1c.5417A>G (p.Lys1806Arg)
c.932A>G (p.Lys311Arg)
n.5873A>G
n.706A>G
c.5981A>G (p.Lys1994Arg)
n.5687A>G
c.6290A>G (p.Lys2097Arg)
c.5483A>G (p.Lys1828Arg)
n.432A>G
c.1784A>G (p.Lys595Arg)
c.5870A>G (p.Lys1957Arg)
c.5234A>G (p.Lys1745Arg)
c.2024A>G (p.Lys675Arg)
5g.177291985A>TCA362320149NSD1c.5417A>T (p.Lys1806Met)
c.932A>T (p.Lys311Met)
n.5873A>T
n.706A>T
c.5981A>T (p.Lys1994Met)
n.5687A>T
c.6290A>T (p.Lys2097Met)
c.5483A>T (p.Lys1828Met)
n.432A>T
c.1784A>T (p.Lys595Met)
c.5870A>T (p.Lys1957Met)
c.5234A>T (p.Lys1745Met)
c.2024A>T (p.Lys675Met)
5g.177291985_177291986delinsAGCA1603532656NSD1c.5417_5418delinsAG (p.Lys1806=)
c.932_933delinsAG (p.Lys311=)
n.5873_5874delinsAG
n.706_707delinsAG
c.5981_5982delinsAG (p.Lys1994=)
n.5687_5688delinsAG
c.6290_6291delinsAG (p.Lys2097=)
c.5483_5484delinsAG (p.Lys1828=)
n.432_433delinsAG
c.1784_1785delinsAG (p.Lys595=)
c.5870_5871delinsAG (p.Lys1957=)
c.5234_5235delinsAG (p.Lys1745=)
c.2024_2025delinsAG (p.Lys675=)
5g.177291986delCA295051NSD1c.5418del (p.Lys1807AsnfsTer?)
c.933del (p.Lys312AsnfsTer?)
n.5874del
n.707del
c.5982del (p.Lys1995AsnfsTer?)
n.5688del
c.6291del (p.Lys2098AsnfsTer?)
c.5484del (p.Lys1829AsnfsTer?)
n.433del
c.1785del (p.Lys596AsnfsTer?)
c.5871del (p.Lys1958AsnfsTer?)
c.5235del (p.Lys1746AsnfsTer?)
c.2025del (p.Lys676AsnfsTer?)
 ClinVar dbSNP
5g.177291986G>ACA447740675NSD1c.5418G>A (p.Lys1806=)
c.933G>A (p.Lys311=)
n.5874G>A
n.707G>A
c.5982G>A (p.Lys1994=)
n.5688G>A
c.6291G>A (p.Lys2097=)
c.5484G>A (p.Lys1828=)
n.433G>A
c.1785G>A (p.Lys595=)
c.5871G>A (p.Lys1957=)
c.5235G>A (p.Lys1745=)
c.2025G>A (p.Lys675=)
 dbSNP
5g.177291986G>CCA362320157NSD1c.5418G>C (p.Lys1806Asn)
c.933G>C (p.Lys311Asn)
n.5874G>C
n.707G>C
c.5982G>C (p.Lys1994Asn)
n.5688G>C
c.6291G>C (p.Lys2097Asn)
c.5484G>C (p.Lys1828Asn)
n.433G>C
c.1785G>C (p.Lys595Asn)
c.5871G>C (p.Lys1957Asn)
c.5235G>C (p.Lys1745Asn)
c.2025G>C (p.Lys675Asn)
5g.177291986G=CA1603532667NSD1c.5418G= (p.Lys1806=)
c.933G= (p.Lys311=)
n.5874G=
n.707G=
c.5982G= (p.Lys1994=)
n.5688G=
c.6291G= (p.Lys2097=)
c.5484G= (p.Lys1828=)
n.433G=
c.1785G= (p.Lys595=)
c.5871G= (p.Lys1957=)
c.5235G= (p.Lys1745=)
c.2025G= (p.Lys675=)
5g.177291986G>TCA362320159NSD1c.5418G>T (p.Lys1806Asn)
c.933G>T (p.Lys311Asn)
n.5874G>T
n.707G>T
c.5982G>T (p.Lys1994Asn)
n.5688G>T
c.6291G>T (p.Lys2097Asn)
c.5484G>T (p.Lys1828Asn)
n.433G>T
c.1785G>T (p.Lys595Asn)
c.5871G>T (p.Lys1957Asn)
c.5235G>T (p.Lys1745Asn)
c.2025G>T (p.Lys675Asn)
5g.177291986_177291992delinsGAAATTCCA1603532664NSD1c.5418_5424delinsGAAATTC (p.Lys1806=)
c.933_939delinsGAAATTC (p.Lys311=)
n.5874_5880delinsGAAATTC
n.707_713delinsGAAATTC
c.5982_5988delinsGAAATTC (p.Lys1994=)
n.5688_5694delinsGAAATTC
c.6291_6297delinsGAAATTC (p.Lys2097=)
c.5484_5490delinsGAAATTC (p.Lys1828=)
n.433_439delinsGAAATTC
c.1785_1791delinsGAAATTC (p.Lys595=)
c.5871_5877delinsGAAATTC (p.Lys1957=)
c.5235_5241delinsGAAATTC (p.Lys1745=)
c.2025_2031delinsGAAATTC (p.Lys675=)
5g.177291987A=CA1603532678NSD1c.5419A= (p.Lys1807=)
c.934A= (p.Lys312=)
n.5875A=
n.708A=
c.5983A= (p.Lys1995=)
n.5689A=
c.6292A= (p.Lys2098=)
c.5485A= (p.Lys1829=)
n.434A=
c.1786A= (p.Lys596=)
c.5872A= (p.Lys1958=)
c.5236A= (p.Lys1746=)
c.2026A= (p.Lys676=)
5g.177291987A>CCA362320165NSD1c.5419A>C (p.Lys1807Gln)
c.934A>C (p.Lys312Gln)
n.5875A>C
n.708A>C
c.5983A>C (p.Lys1995Gln)
n.5689A>C
c.6292A>C (p.Lys2098Gln)
c.5485A>C (p.Lys1829Gln)
n.434A>C
c.1786A>C (p.Lys596Gln)
c.5872A>C (p.Lys1958Gln)
c.5236A>C (p.Lys1746Gln)
c.2026A>C (p.Lys676Gln)
 dbSNP
5g.177291987A>GCA362320167NSD1c.5419A>G (p.Lys1807Glu)
c.934A>G (p.Lys312Glu)
n.5875A>G
n.708A>G
c.5983A>G (p.Lys1995Glu)
n.5689A>G
c.6292A>G (p.Lys2098Glu)
c.5485A>G (p.Lys1829Glu)
n.434A>G
c.1786A>G (p.Lys596Glu)
c.5872A>G (p.Lys1958Glu)
c.5236A>G (p.Lys1746Glu)
c.2026A>G (p.Lys676Glu)
5g.177291987A>TCA362320169NSD1c.5419A>T (p.Lys1807Ter)
c.934A>T (p.Lys312Ter)
n.5875A>T
n.708A>T
c.5983A>T (p.Lys1995Ter)
n.5689A>T
c.6292A>T (p.Lys2098Ter)
c.5485A>T (p.Lys1829Ter)
n.434A>T
c.1786A>T (p.Lys596Ter)
c.5872A>T (p.Lys1958Ter)
c.5236A>T (p.Lys1746Ter)
c.2026A>T (p.Lys676Ter)
5g.177291989delCA2499217789NSD1c.5421del (p.Lys1807AsnfsTer?)
c.936del (p.Lys312AsnfsTer?)
n.5877del
n.710del
c.5985del (p.Lys1995AsnfsTer?)
n.5691del
c.6294del (p.Lys2098AsnfsTer?)
c.5487del (p.Lys1829AsnfsTer?)
n.436del
c.1788del (p.Lys596AsnfsTer?)
c.5874del (p.Lys1958AsnfsTer?)
c.5238del (p.Lys1746AsnfsTer?)
c.2028del (p.Lys676AsnfsTer?)
 ClinVar dbSNP
5g.177291989_177291994delCA3577976NSD1c.5421_5426del (p.Phe1808_Lys1809del)
c.936_941del (p.Phe313_Lys314del)
n.5877_5882del
n.710_715del
c.5985_5990del (p.Phe1996_Lys1997del)
n.5691_5696del
c.6294_6299del (p.Phe2099_Lys2100del)
c.5487_5492del (p.Phe1830_Lys1831del)
n.436_441del
c.1788_1793del (p.Phe597_Lys598del)
c.5874_5879del (p.Phe1959_Lys1960del)
c.5238_5243del (p.Phe1747_Lys1748del)
c.2028_2033del (p.Phe677_Lys678del)
 dbSNP ExAC gnomAD v2
5g.177291988A>CCA362320174NSD1c.5420A>C (p.Lys1807Thr)
c.935A>C (p.Lys312Thr)
n.5876A>C
n.709A>C
c.5984A>C (p.Lys1995Thr)
n.5690A>C
c.6293A>C (p.Lys2098Thr)
c.5486A>C (p.Lys1829Thr)
n.435A>C
c.1787A>C (p.Lys596Thr)
c.5873A>C (p.Lys1958Thr)
c.5237A>C (p.Lys1746Thr)
c.2027A>C (p.Lys676Thr)
5g.177291988A>GCA362320176NSD1c.5420A>G (p.Lys1807Arg)
c.935A>G (p.Lys312Arg)
n.5876A>G
n.709A>G
c.5984A>G (p.Lys1995Arg)
n.5690A>G
c.6293A>G (p.Lys2098Arg)
c.5486A>G (p.Lys1829Arg)
n.435A>G
c.1787A>G (p.Lys596Arg)
c.5873A>G (p.Lys1958Arg)
c.5237A>G (p.Lys1746Arg)
c.2027A>G (p.Lys676Arg)
5g.177291988A>TCA362320179NSD1c.5420A>T (p.Lys1807Ile)
c.935A>T (p.Lys312Ile)
n.5876A>T
n.709A>T
c.5984A>T (p.Lys1995Ile)
n.5690A>T
c.6293A>T (p.Lys2098Ile)
c.5486A>T (p.Lys1829Ile)
n.435A>T
c.1787A>T (p.Lys596Ile)
c.5873A>T (p.Lys1958Ile)
c.5237A>T (p.Lys1746Ile)
c.2027A>T (p.Lys676Ile)
5g.177291989A>CCA362320181NSD1c.5421A>C (p.Lys1807Asn)
c.936A>C (p.Lys312Asn)
n.5877A>C
n.710A>C
c.5985A>C (p.Lys1995Asn)
n.5691A>C
c.6294A>C (p.Lys2098Asn)
c.5487A>C (p.Lys1829Asn)
n.436A>C
c.1788A>C (p.Lys596Asn)
c.5874A>C (p.Lys1958Asn)
c.5238A>C (p.Lys1746Asn)
c.2028A>C (p.Lys676Asn)
5g.177291989A>GCA447740681NSD1c.5421A>G (p.Lys1807=)
c.936A>G (p.Lys312=)
n.5877A>G
n.710A>G
c.5985A>G (p.Lys1995=)
n.5691A>G
c.6294A>G (p.Lys2098=)
c.5487A>G (p.Lys1829=)
n.436A>G
c.1788A>G (p.Lys596=)
c.5874A>G (p.Lys1958=)
c.5238A>G (p.Lys1746=)
c.2028A>G (p.Lys676=)
5g.177291989A>TCA362320184NSD1c.5421A>T (p.Lys1807Asn)
c.936A>T (p.Lys312Asn)
n.5877A>T
n.710A>T
c.5985A>T (p.Lys1995Asn)
n.5691A>T
c.6294A>T (p.Lys2098Asn)
c.5487A>T (p.Lys1829Asn)
n.436A>T
c.1788A>T (p.Lys596Asn)
c.5874A>T (p.Lys1958Asn)
c.5238A>T (p.Lys1746Asn)
c.2028A>T (p.Lys676Asn)
5g.177291990T>ACA362320189NSD1c.5422T>A (p.Phe1808Ile)
c.937T>A (p.Phe313Ile)
n.5878T>A
n.711T>A
c.5986T>A (p.Phe1996Ile)
n.5692T>A
c.6295T>A (p.Phe2099Ile)
c.5488T>A (p.Phe1830Ile)
n.437T>A
c.1789T>A (p.Phe597Ile)
c.5875T>A (p.Phe1959Ile)
c.5239T>A (p.Phe1747Ile)
c.2029T>A (p.Phe677Ile)
5g.177291990T>CCA362320192NSD1c.5422T>C (p.Phe1808Leu)
c.937T>C (p.Phe313Leu)
n.5878T>C
n.711T>C
c.5986T>C (p.Phe1996Leu)
n.5692T>C
c.6295T>C (p.Phe2099Leu)
c.5488T>C (p.Phe1830Leu)
n.437T>C
c.1789T>C (p.Phe597Leu)
c.5875T>C (p.Phe1959Leu)
c.5239T>C (p.Phe1747Leu)
c.2029T>C (p.Phe677Leu)
5g.177291990T>GCA362320188NSD1c.5422T>G (p.Phe1808Val)
c.937T>G (p.Phe313Val)
n.5878T>G
n.711T>G
c.5986T>G (p.Phe1996Val)
n.5692T>G
c.6295T>G (p.Phe2099Val)
c.5488T>G (p.Phe1830Val)
n.437T>G
c.1789T>G (p.Phe597Val)
c.5875T>G (p.Phe1959Val)
c.5239T>G (p.Phe1747Val)
c.2029T>G (p.Phe677Val)
5g.177291991T>ACA362320196NSD1c.5423T>A (p.Phe1808Tyr)
c.938T>A (p.Phe313Tyr)
n.5879T>A
n.712T>A
c.5987T>A (p.Phe1996Tyr)
n.5693T>A
c.6296T>A (p.Phe2099Tyr)
c.5489T>A (p.Phe1830Tyr)
n.438T>A
c.1790T>A (p.Phe597Tyr)
c.5876T>A (p.Phe1959Tyr)
c.5240T>A (p.Phe1747Tyr)
c.2030T>A (p.Phe677Tyr)
5g.177291991T>CCA362320197NSD1c.5423T>C (p.Phe1808Ser)
c.938T>C (p.Phe313Ser)
n.5879T>C
n.712T>C
c.5987T>C (p.Phe1996Ser)
n.5693T>C
c.6296T>C (p.Phe2099Ser)
c.5489T>C (p.Phe1830Ser)
n.438T>C
c.1790T>C (p.Phe597Ser)
c.5876T>C (p.Phe1959Ser)
c.5240T>C (p.Phe1747Ser)
c.2030T>C (p.Phe677Ser)
5g.177291991T>GCA362320200NSD1c.5423T>G (p.Phe1808Cys)
c.938T>G (p.Phe313Cys)
n.5879T>G
n.712T>G
c.5987T>G (p.Phe1996Cys)
n.5693T>G
c.6296T>G (p.Phe2099Cys)
c.5489T>G (p.Phe1830Cys)
n.438T>G
c.1790T>G (p.Phe597Cys)
c.5876T>G (p.Phe1959Cys)
c.5240T>G (p.Phe1747Cys)
c.2030T>G (p.Phe677Cys)
5g.177291992C>ACA362320203NSD1c.5424C>A (p.Phe1808Leu)
c.939C>A (p.Phe313Leu)
n.5880C>A
n.713C>A
c.5988C>A (p.Phe1996Leu)
n.5694C>A
c.6297C>A (p.Phe2099Leu)
c.5490C>A (p.Phe1830Leu)
n.439C>A
c.1791C>A (p.Phe597Leu)
c.5877C>A (p.Phe1959Leu)
c.5241C>A (p.Phe1747Leu)
c.2031C>A (p.Phe677Leu)
 gnomAD v4
5g.177291992C=CA1603532685NSD1c.5424C= (p.Phe1808=)
c.939C= (p.Phe313=)
n.5880C=
n.713C=
c.5988C= (p.Phe1996=)
n.5694C=
c.6297C= (p.Phe2099=)
c.5490C= (p.Phe1830=)
n.439C=
c.1791C= (p.Phe597=)
c.5877C= (p.Phe1959=)
c.5241C= (p.Phe1747=)
c.2031C= (p.Phe677=)
5g.177291992C>GCA362320205NSD1c.5424C>G (p.Phe1808Leu)
c.939C>G (p.Phe313Leu)
n.5880C>G
n.713C>G
c.5988C>G (p.Phe1996Leu)
n.5694C>G
c.6297C>G (p.Phe2099Leu)
c.5490C>G (p.Phe1830Leu)
n.439C>G
c.1791C>G (p.Phe597Leu)
c.5877C>G (p.Phe1959Leu)
c.5241C>G (p.Phe1747Leu)
c.2031C>G (p.Phe677Leu)
 dbSNP gnomAD v4
5g.177291992C>TCA447740684NSD1c.5424C>T (p.Phe1808=)
c.939C>T (p.Phe313=)
n.5880C>T
n.713C>T
c.5988C>T (p.Phe1996=)
n.5694C>T
c.6297C>T (p.Phe2099=)
c.5490C>T (p.Phe1830=)
n.439C>T
c.1791C>T (p.Phe597=)
c.5877C>T (p.Phe1959=)
c.5241C>T (p.Phe1747=)
c.2031C>T (p.Phe677=)
5g.177291992_177291995delinsCAAGCA1603532688NSD1c.5424_5427delinsCAAG (p.Phe1808=)
c.939_942delinsCAAG (p.Phe313=)
n.5880_5883delinsCAAG
n.713_716delinsCAAG
c.5988_5991delinsCAAG (p.Phe1996=)
n.5694_5697delinsCAAG
c.6297_6300delinsCAAG (p.Phe2099=)
c.5490_5493delinsCAAG (p.Phe1830=)
n.439_442delinsCAAG
c.1791_1794delinsCAAG (p.Phe597=)
c.5877_5880delinsCAAG (p.Phe1959=)
c.5241_5244delinsCAAG (p.Phe1747=)
c.2031_2034delinsCAAG (p.Phe677=)
5g.177291993A>CCA362320212NSD1c.5425A>C (p.Lys1809Gln)
c.940A>C (p.Lys314Gln)
n.5881A>C
n.714A>C
c.5989A>C (p.Lys1997Gln)
n.5695A>C
c.6298A>C (p.Lys2100Gln)
c.5491A>C (p.Lys1831Gln)
n.440A>C
c.1792A>C (p.Lys598Gln)
c.5878A>C (p.Lys1960Gln)
c.5242A>C (p.Lys1748Gln)
c.2032A>C (p.Lys678Gln)
5g.177291993A>GCA362320209NSD1c.5425A>G (p.Lys1809Glu)
c.940A>G (p.Lys314Glu)
n.5881A>G
n.714A>G
c.5989A>G (p.Lys1997Glu)
n.5695A>G
c.6298A>G (p.Lys2100Glu)
c.5491A>G (p.Lys1831Glu)
n.440A>G
c.1792A>G (p.Lys598Glu)
c.5878A>G (p.Lys1960Glu)
c.5242A>G (p.Lys1748Glu)
c.2032A>G (p.Lys678Glu)
5g.177291993A>TCA362320211NSD1c.5425A>T (p.Lys1809Ter)
c.940A>T (p.Lys314Ter)
n.5881A>T
n.714A>T
c.5989A>T (p.Lys1997Ter)
n.5695A>T
c.6298A>T (p.Lys2100Ter)
c.5491A>T (p.Lys1831Ter)
n.440A>T
c.1792A>T (p.Lys598Ter)
c.5878A>T (p.Lys1960Ter)
c.5242A>T (p.Lys1748Ter)
c.2032A>T (p.Lys678Ter)
5g.177291999_177292001delCA564899189NSD1c.5431_5433del (p.Lys1811del)
c.946_948del (p.Lys316del)
n.5887_5889del
n.720_722del
c.5995_5997del (p.Lys1999del)
n.5701_5703del
c.6304_6306del (p.Lys2102del)
c.5497_5499del (p.Lys1833del)
n.446_448del
c.1798_1800del (p.Lys600del)
c.5884_5886del (p.Lys1962del)
c.5248_5250del (p.Lys1750del)
c.2038_2040del (p.Lys680del)
 dbSNP gnomAD v2 gnomAD v4
5g.177291994A=CA1603532694NSD1c.5426A= (p.Lys1809=)
c.941A= (p.Lys314=)
n.5882A=
n.715A=
c.5990A= (p.Lys1997=)
n.5696A=
c.6299A= (p.Lys2100=)
c.5492A= (p.Lys1831=)
n.441A=
c.1793A= (p.Lys598=)
c.5879A= (p.Lys1960=)
c.5243A= (p.Lys1748=)
c.2033A= (p.Lys678=)
5g.177291994A>CCA362320213NSD1c.5426A>C (p.Lys1809Thr)
c.941A>C (p.Lys314Thr)
n.5882A>C
n.715A>C
c.5990A>C (p.Lys1997Thr)
n.5696A>C
c.6299A>C (p.Lys2100Thr)
c.5492A>C (p.Lys1831Thr)
n.441A>C
c.1793A>C (p.Lys598Thr)
c.5879A>C (p.Lys1960Thr)
c.5243A>C (p.Lys1748Thr)
c.2033A>C (p.Lys678Thr)
5g.177291994A>GCA132861263NSD1c.5426A>G (p.Lys1809Arg)
c.941A>G (p.Lys314Arg)
n.5882A>G
n.715A>G
c.5990A>G (p.Lys1997Arg)
n.5696A>G
c.6299A>G (p.Lys2100Arg)
c.5492A>G (p.Lys1831Arg)
n.441A>G
c.1793A>G (p.Lys598Arg)
c.5879A>G (p.Lys1960Arg)
c.5243A>G (p.Lys1748Arg)
c.2033A>G (p.Lys678Arg)
 dbSNP gnomAD v4
5g.177291994A>TCA362320214NSD1c.5426A>T (p.Lys1809Met)
c.941A>T (p.Lys314Met)
n.5882A>T
n.715A>T
c.5990A>T (p.Lys1997Met)
n.5696A>T
c.6299A>T (p.Lys2100Met)
c.5492A>T (p.Lys1831Met)
n.441A>T
c.1793A>T (p.Lys598Met)
c.5879A>T (p.Lys1960Met)
c.5243A>T (p.Lys1748Met)
c.2033A>T (p.Lys678Met)
5g.177291995G>ACA447740688NSD1c.5427G>A (p.Lys1809=)
c.942G>A (p.Lys314=)
n.5883G>A
n.716G>A
c.5991G>A (p.Lys1997=)
n.5697G>A
c.6300G>A (p.Lys2100=)
c.5493G>A (p.Lys1831=)
n.442G>A
c.1794G>A (p.Lys598=)
c.5880G>A (p.Lys1960=)
c.5244G>A (p.Lys1748=)
c.2034G>A (p.Lys678=)
 dbSNP gnomAD v4
5g.177291995G>CCA362320216NSD1c.5427G>C (p.Lys1809Asn)
c.942G>C (p.Lys314Asn)
n.5883G>C
n.716G>C
c.5991G>C (p.Lys1997Asn)
n.5697G>C
c.6300G>C (p.Lys2100Asn)
c.5493G>C (p.Lys1831Asn)
n.442G>C
c.1794G>C (p.Lys598Asn)
c.5880G>C (p.Lys1960Asn)
c.5244G>C (p.Lys1748Asn)
c.2034G>C (p.Lys678Asn)
5g.177291995G=CA1603532697NSD1c.5427G= (p.Lys1809=)
c.942G= (p.Lys314=)
n.5883G=
n.716G=
c.5991G= (p.Lys1997=)
n.5697G=
c.6300G= (p.Lys2100=)
c.5493G= (p.Lys1831=)
n.442G=
c.1794G= (p.Lys598=)
c.5880G= (p.Lys1960=)
c.5244G= (p.Lys1748=)
c.2034G= (p.Lys678=)
5g.177291995G>TCA362320217NSD1c.5427G>T (p.Lys1809Asn)
c.942G>T (p.Lys314Asn)
n.5883G>T
n.716G>T
c.5991G>T (p.Lys1997Asn)
n.5697G>T
c.6300G>T (p.Lys2100Asn)
c.5493G>T (p.Lys1831Asn)
n.442G>T
c.1794G>T (p.Lys598Asn)
c.5880G>T (p.Lys1960Asn)
c.5244G>T (p.Lys1748Asn)
c.2034G>T (p.Lys678Asn)
5g.177291996A>CCA362320224NSD1c.5428A>C (p.Lys1810Gln)
c.943A>C (p.Lys315Gln)
n.5884A>C
n.717A>C
c.5992A>C (p.Lys1998Gln)
n.5698A>C
c.6301A>C (p.Lys2101Gln)
c.5494A>C (p.Lys1832Gln)
n.443A>C
c.1795A>C (p.Lys599Gln)
c.5881A>C (p.Lys1961Gln)
c.5245A>C (p.Lys1749Gln)
c.2035A>C (p.Lys679Gln)
5g.177291996A>GCA362320221NSD1c.5428A>G (p.Lys1810Glu)
c.943A>G (p.Lys315Glu)
n.5884A>G
n.717A>G
c.5992A>G (p.Lys1998Glu)
n.5698A>G
c.6301A>G (p.Lys2101Glu)
c.5494A>G (p.Lys1832Glu)
n.443A>G
c.1795A>G (p.Lys599Glu)
c.5881A>G (p.Lys1961Glu)
c.5245A>G (p.Lys1749Glu)
c.2035A>G (p.Lys679Glu)
5g.177291996A>TCA362320220NSD1c.5428A>T (p.Lys1810Ter)
c.943A>T (p.Lys315Ter)
n.5884A>T
n.717A>T
c.5992A>T (p.Lys1998Ter)
n.5698A>T
c.6301A>T (p.Lys2101Ter)
c.5494A>T (p.Lys1832Ter)
n.443A>T
c.1795A>T (p.Lys599Ter)
c.5881A>T (p.Lys1961Ter)
c.5245A>T (p.Lys1749Ter)
c.2035A>T (p.Lys679Ter)
5g.177291997delCA658820944NSD1c.5429del (p.Lys1810ArgfsTer?)
c.944del (p.Lys315ArgfsTer?)
n.5885del
n.718del
c.5993del (p.Lys1998ArgfsTer?)
n.5699del
c.6302del (p.Lys2101ArgfsTer?)
c.5495del (p.Lys1832ArgfsTer?)
n.444del
c.1796del (p.Lys599ArgfsTer?)
c.5882del (p.Lys1961ArgfsTer?)
c.5246del (p.Lys1749ArgfsTer?)
c.2036del (p.Lys679ArgfsTer?)
5g.177291997A>CCA362320228NSD1c.5429A>C (p.Lys1810Thr)
c.944A>C (p.Lys315Thr)
n.5885A>C
n.718A>C
c.5993A>C (p.Lys1998Thr)
n.5699A>C
c.6302A>C (p.Lys2101Thr)
c.5495A>C (p.Lys1832Thr)
n.444A>C
c.1796A>C (p.Lys599Thr)
c.5882A>C (p.Lys1961Thr)
c.5246A>C (p.Lys1749Thr)
c.2036A>C (p.Lys679Thr)
5g.177291997A>GCA362320230NSD1c.5429A>G (p.Lys1810Arg)
c.944A>G (p.Lys315Arg)
n.5885A>G
n.718A>G
c.5993A>G (p.Lys1998Arg)
n.5699A>G
c.6302A>G (p.Lys2101Arg)
c.5495A>G (p.Lys1832Arg)
n.444A>G
c.1796A>G (p.Lys599Arg)
c.5882A>G (p.Lys1961Arg)
c.5246A>G (p.Lys1749Arg)
c.2036A>G (p.Lys679Arg)
 gnomAD v4
5g.177291997A>TCA362320232NSD1c.5429A>T (p.Lys1810Met)
c.944A>T (p.Lys315Met)
n.5885A>T
n.718A>T
c.5993A>T (p.Lys1998Met)
n.5699A>T
c.6302A>T (p.Lys2101Met)
c.5495A>T (p.Lys1832Met)
n.444A>T
c.1796A>T (p.Lys599Met)
c.5882A>T (p.Lys1961Met)
c.5246A>T (p.Lys1749Met)
c.2036A>T (p.Lys679Met)
5g.177291998G>ACA447740691NSD1c.5430G>A (p.Lys1810=)
c.945G>A (p.Lys315=)
n.5886G>A
n.719G>A
c.5994G>A (p.Lys1998=)
n.5700G>A
c.6303G>A (p.Lys2101=)
c.5496G>A (p.Lys1832=)
n.445G>A
c.1797G>A (p.Lys599=)
c.5883G>A (p.Lys1961=)
c.5247G>A (p.Lys1749=)
c.2037G>A (p.Lys679=)
5g.177291998G>CCA362320235NSD1c.5430G>C (p.Lys1810Asn)
c.945G>C (p.Lys315Asn)
n.5886G>C
n.719G>C
c.5994G>C (p.Lys1998Asn)
n.5700G>C
c.6303G>C (p.Lys2101Asn)
c.5496G>C (p.Lys1832Asn)
n.445G>C
c.1797G>C (p.Lys599Asn)
c.5883G>C (p.Lys1961Asn)
c.5247G>C (p.Lys1749Asn)
c.2037G>C (p.Lys679Asn)
5g.177291998G>TCA362320238NSD1c.5430G>T (p.Lys1810Asn)
c.945G>T (p.Lys315Asn)
n.5886G>T
n.719G>T
c.5994G>T (p.Lys1998Asn)
n.5700G>T
c.6303G>T (p.Lys2101Asn)
c.5496G>T (p.Lys1832Asn)
n.445G>T
c.1797G>T (p.Lys599Asn)
c.5883G>T (p.Lys1961Asn)
c.5247G>T (p.Lys1749Asn)
c.2037G>T (p.Lys679Asn)
 gnomAD v4
5g.177291999A>CCA362320240NSD1c.5431A>C (p.Lys1811Gln)
c.946A>C (p.Lys316Gln)
n.5887A>C
n.720A>C
c.5995A>C (p.Lys1999Gln)
n.5701A>C
c.6304A>C (p.Lys2102Gln)
c.5497A>C (p.Lys1833Gln)
n.446A>C
c.1798A>C (p.Lys600Gln)
c.5884A>C (p.Lys1962Gln)
c.5248A>C (p.Lys1750Gln)
c.2038A>C (p.Lys680Gln)
 gnomAD v4
5g.177291999A>GCA362320242NSD1c.5431A>G (p.Lys1811Glu)
c.946A>G (p.Lys316Glu)
n.5887A>G
n.720A>G
c.5995A>G (p.Lys1999Glu)
n.5701A>G
c.6304A>G (p.Lys2102Glu)
c.5497A>G (p.Lys1833Glu)
n.446A>G
c.1798A>G (p.Lys600Glu)
c.5884A>G (p.Lys1962Glu)
c.5248A>G (p.Lys1750Glu)
c.2038A>G (p.Lys680Glu)
5g.177291999A>TCA362320245NSD1c.5431A>T (p.Lys1811Ter)
c.946A>T (p.Lys316Ter)
n.5887A>T
n.720A>T
c.5995A>T (p.Lys1999Ter)
n.5701A>T
c.6304A>T (p.Lys2102Ter)
c.5497A>T (p.Lys1833Ter)
n.446A>T
c.1798A>T (p.Lys600Ter)
c.5884A>T (p.Lys1962Ter)
c.5248A>T (p.Lys1750Ter)
c.2038A>T (p.Lys680Ter)
5g.177292000A=CA1603532701NSD1c.5432A= (p.Lys1811=)
c.947A= (p.Lys316=)
n.5888A=
n.721A=
c.5996A= (p.Lys1999=)
n.5702A=
c.6305A= (p.Lys2102=)
c.5498A= (p.Lys1833=)
n.447A=
c.1799A= (p.Lys600=)
c.5885A= (p.Lys1962=)
c.5249A= (p.Lys1750=)
c.2039A= (p.Lys680=)
5g.177292000A>CCA362320249NSD1c.5432A>C (p.Lys1811Thr)
c.947A>C (p.Lys316Thr)
n.5888A>C
n.721A>C
c.5996A>C (p.Lys1999Thr)
n.5702A>C
c.6305A>C (p.Lys2102Thr)
c.5498A>C (p.Lys1833Thr)
n.447A>C
c.1799A>C (p.Lys600Thr)
c.5885A>C (p.Lys1962Thr)
c.5249A>C (p.Lys1750Thr)
c.2039A>C (p.Lys680Thr)
5g.177292000A>GCA362320251NSD1c.5432A>G (p.Lys1811Arg)
c.947A>G (p.Lys316Arg)
n.5888A>G
n.721A>G
c.5996A>G (p.Lys1999Arg)
n.5702A>G
c.6305A>G (p.Lys2102Arg)
c.5498A>G (p.Lys1833Arg)
n.447A>G
c.1799A>G (p.Lys600Arg)
c.5885A>G (p.Lys1962Arg)
c.5249A>G (p.Lys1750Arg)
c.2039A>G (p.Lys680Arg)
5g.177292000A>TCA362320253NSD1c.5432A>T (p.Lys1811Met)
c.947A>T (p.Lys316Met)
n.5888A>T
n.721A>T
c.5996A>T (p.Lys1999Met)
n.5702A>T
c.6305A>T (p.Lys2102Met)
c.5498A>T (p.Lys1833Met)
n.447A>T
c.1799A>T (p.Lys600Met)
c.5885A>T (p.Lys1962Met)
c.5249A>T (p.Lys1750Met)
c.2039A>T (p.Lys680Met)
5g.177292001G>ACA447740693NSD1c.5433G>A (p.Lys1811=)
c.948G>A (p.Lys316=)
n.5889G>A
n.722G>A
c.5997G>A (p.Lys1999=)
n.5703G>A
c.6306G>A (p.Lys2102=)
c.5499G>A (p.Lys1833=)
n.448G>A
c.1800G>A (p.Lys600=)
c.5886G>A (p.Lys1962=)
c.5250G>A (p.Lys1750=)
c.2040G>A (p.Lys680=)
5g.177292001G>CCA362320256NSD1c.5433G>C (p.Lys1811Asn)
c.948G>C (p.Lys316Asn)
n.5889G>C
n.722G>C
c.5997G>C (p.Lys1999Asn)
n.5703G>C
c.6306G>C (p.Lys2102Asn)
c.5499G>C (p.Lys1833Asn)
n.448G>C
c.1800G>C (p.Lys600Asn)
c.5886G>C (p.Lys1962Asn)
c.5250G>C (p.Lys1750Asn)
c.2040G>C (p.Lys680Asn)
5g.177292001G>TCA362320258NSD1c.5433G>T (p.Lys1811Asn)
c.948G>T (p.Lys316Asn)
n.5889G>T
n.722G>T
c.5997G>T (p.Lys1999Asn)
n.5703G>T
c.6306G>T (p.Lys2102Asn)
c.5499G>T (p.Lys1833Asn)
n.448G>T
c.1800G>T (p.Lys600Asn)
c.5886G>T (p.Lys1962Asn)
c.5250G>T (p.Lys1750Asn)
c.2040G>T (p.Lys680Asn)
5g.177292002_177292003insTGTGCCA319703NSD1c.5434_5435insTGTGC (p.Gln1812LeufsTer?)
c.949_950insTGTGC (p.Gln317LeufsTer?)
n.5890_5891insTGTGC
n.723_724insTGTGC
c.5998_5999insTGTGC (p.Gln2000LeufsTer?)
n.5704_5705insTGTGC
c.6307_6308insTGTGC (p.Gln2103LeufsTer?)
c.5500_5501insTGTGC (p.Gln1834LeufsTer?)
n.449_450insTGTGC
c.1801_1802insTGTGC (p.Gln601LeufsTer?)
c.5887_5888insTGTGC (p.Gln1963LeufsTer?)
c.5251_5252insTGTGC (p.Gln1751LeufsTer?)
c.2041_2042insTGTGC (p.Gln681LeufsTer?)
 ClinVar dbSNP
5g.177292002C>ACA362320262NSD1c.5434C>A (p.Gln1812Lys)
c.949C>A (p.Gln317Lys)
n.5890C>A
n.723C>A
c.5998C>A (p.Gln2000Lys)
n.5704C>A
c.6307C>A (p.Gln2103Lys)
c.5500C>A (p.Gln1834Lys)
n.449C>A
c.1801C>A (p.Gln601Lys)
c.5887C>A (p.Gln1963Lys)
c.5251C>A (p.Gln1751Lys)
c.2041C>A (p.Gln681Lys)
 dbSNP
5g.177292002C=CA1603532714NSD1c.5434C= (p.Gln1812=)
c.949C= (p.Gln317=)
n.5890C=
n.723C=
c.5998C= (p.Gln2000=)
n.5704C=
c.6307C= (p.Gln2103=)
c.5500C= (p.Gln1834=)
n.449C=
c.1801C= (p.Gln601=)
c.5887C= (p.Gln1963=)
c.5251C= (p.Gln1751=)
c.2041C= (p.Gln681=)
5g.177292002C>GCA362320264NSD1c.5434C>G (p.Gln1812Glu)
c.949C>G (p.Gln317Glu)
n.5890C>G
n.723C>G
c.5998C>G (p.Gln2000Glu)
n.5704C>G
c.6307C>G (p.Gln2103Glu)
c.5500C>G (p.Gln1834Glu)
n.449C>G
c.1801C>G (p.Gln601Glu)
c.5887C>G (p.Gln1963Glu)
c.5251C>G (p.Gln1751Glu)
c.2041C>G (p.Gln681Glu)
5g.177292002C>TCA295052NSD1c.5434C>T (p.Gln1812Ter)
c.949C>T (p.Gln317Ter)
n.5890C>T
n.723C>T
c.5998C>T (p.Gln2000Ter)
n.5704C>T
c.6307C>T (p.Gln2103Ter)
c.5500C>T (p.Gln1834Ter)
n.449C>T
c.1801C>T (p.Gln601Ter)
c.5887C>T (p.Gln1963Ter)
c.5251C>T (p.Gln1751Ter)
c.2041C>T (p.Gln681Ter)
 ClinVar dbSNP
5g.177292003A>CCA362320268NSD1c.5435A>C (p.Gln1812Pro)
c.950A>C (p.Gln317Pro)
n.5891A>C
n.724A>C
c.5999A>C (p.Gln2000Pro)
n.5705A>C
c.6308A>C (p.Gln2103Pro)
c.5501A>C (p.Gln1834Pro)
n.450A>C
c.1802A>C (p.Gln601Pro)
c.5888A>C (p.Gln1963Pro)
c.5252A>C (p.Gln1751Pro)
c.2042A>C (p.Gln681Pro)
 gnomAD v4
5g.177292003A>GCA362320271NSD1c.5435A>G (p.Gln1812Arg)
c.950A>G (p.Gln317Arg)
n.5891A>G
n.724A>G
c.5999A>G (p.Gln2000Arg)
n.5705A>G
c.6308A>G (p.Gln2103Arg)
c.5501A>G (p.Gln1834Arg)
n.450A>G
c.1802A>G (p.Gln601Arg)
c.5888A>G (p.Gln1963Arg)
c.5252A>G (p.Gln1751Arg)
c.2042A>G (p.Gln681Arg)
5g.177292003A>TCA362320273NSD1c.5435A>T (p.Gln1812Leu)
c.950A>T (p.Gln317Leu)
n.5891A>T
n.724A>T
c.5999A>T (p.Gln2000Leu)
n.5705A>T
c.6308A>T (p.Gln2103Leu)
c.5501A>T (p.Gln1834Leu)
n.450A>T
c.1802A>T (p.Gln601Leu)
c.5888A>T (p.Gln1963Leu)
c.5252A>T (p.Gln1751Leu)
c.2042A>T (p.Gln681Leu)
5g.177292004dupCA2695205735NSD1c.5436dup (p.Gln1813ThrfsTer9)
c.951dup (p.Gln318ThrfsTer9)
n.5892dup
n.725dup
c.6000dup (p.Gln2001ThrfsTer9)
n.5706dup
c.6309dup (p.Gln2104ThrfsTer9)
c.5502dup (p.Gln1835ThrfsTer9)
n.451dup
c.1803dup (p.Gln602ThrfsTer9)
c.5889dup (p.Gln1964ThrfsTer9)
c.5253dup (p.Gln1752ThrfsTer9)
c.2043dup (p.Gln682ThrfsTer9)
5g.177292004A>CCA362320276NSD1c.5436A>C (p.Gln1812His)
c.951A>C (p.Gln317His)
n.5892A>C
n.725A>C
c.6000A>C (p.Gln2000His)
n.5706A>C
c.6309A>C (p.Gln2103His)
c.5502A>C (p.Gln1834His)
n.451A>C
c.1803A>C (p.Gln601His)
c.5889A>C (p.Gln1963His)
c.5253A>C (p.Gln1751His)
c.2043A>C (p.Gln681His)
5g.177292004A>GCA447740697NSD1c.5436A>G (p.Gln1812=)
c.951A>G (p.Gln317=)
n.5892A>G
n.725A>G
c.6000A>G (p.Gln2000=)
n.5706A>G
c.6309A>G (p.Gln2103=)
c.5502A>G (p.Gln1834=)
n.451A>G
c.1803A>G (p.Gln601=)
c.5889A>G (p.Gln1963=)
c.5253A>G (p.Gln1751=)
c.2043A>G (p.Gln681=)
5g.177292004A>TCA362320277NSD1c.5436A>T (p.Gln1812His)
c.951A>T (p.Gln317His)
n.5892A>T
n.725A>T
c.6000A>T (p.Gln2000His)
n.5706A>T
c.6309A>T (p.Gln2103His)
c.5502A>T (p.Gln1834His)
n.451A>T
c.1803A>T (p.Gln601His)
c.5889A>T (p.Gln1963His)
c.5253A>T (p.Gln1751His)
c.2043A>T (p.Gln681His)
5g.177292005C>ACA362320282NSD1c.5437C>A (p.Gln1813Lys)
c.952C>A (p.Gln318Lys)
n.5893C>A
n.726C>A
c.6001C>A (p.Gln2001Lys)
n.5707C>A
c.6310C>A (p.Gln2104Lys)
c.5503C>A (p.Gln1835Lys)
n.452C>A
c.1804C>A (p.Gln602Lys)
c.5890C>A (p.Gln1964Lys)
c.5254C>A (p.Gln1752Lys)
c.2044C>A (p.Gln682Lys)
5g.177292005C=CA1603532720NSD1c.5437C= (p.Gln1813=)
c.952C= (p.Gln318=)
n.5893C=
n.726C=
c.6001C= (p.Gln2001=)
n.5707C=
c.6310C= (p.Gln2104=)
c.5503C= (p.Gln1835=)
n.452C=
c.1804C= (p.Gln602=)
c.5890C= (p.Gln1964=)
c.5254C= (p.Gln1752=)
c.2044C= (p.Gln682=)
5g.177292005C>GCA362320285NSD1c.5437C>G (p.Gln1813Glu)
c.952C>G (p.Gln318Glu)
n.5893C>G
n.726C>G
c.6001C>G (p.Gln2001Glu)
n.5707C>G
c.6310C>G (p.Gln2104Glu)
c.5503C>G (p.Gln1835Glu)
n.452C>G
c.1804C>G (p.Gln602Glu)
c.5890C>G (p.Gln1964Glu)
c.5254C>G (p.Gln1752Glu)
c.2044C>G (p.Gln682Glu)
 dbSNP
5g.177292005C>TCA295055NSD1c.5437C>T (p.Gln1813Ter)
c.952C>T (p.Gln318Ter)
n.5893C>T
n.726C>T
c.6001C>T (p.Gln2001Ter)
n.5707C>T
c.6310C>T (p.Gln2104Ter)
c.5503C>T (p.Gln1835Ter)
n.452C>T
c.1804C>T (p.Gln602Ter)
c.5890C>T (p.Gln1964Ter)
c.5254C>T (p.Gln1752Ter)
c.2044C>T (p.Gln682Ter)
 ClinVar dbSNP
5g.177292005_177292007delinsCAGCA1603532724NSD1c.5437_5439delinsCAG (p.Gln1813=)
c.952_954delinsCAG (p.Gln318=)
n.5893_5895delinsCAG
n.726_728delinsCAG
c.6001_6003delinsCAG (p.Gln2001=)
n.5707_5709delinsCAG
c.6310_6312delinsCAG (p.Gln2104=)
c.5503_5505delinsCAG (p.Gln1835=)
n.452_454delinsCAG
c.1804_1806delinsCAG (p.Gln602=)
c.5890_5892delinsCAG (p.Gln1964=)
c.5254_5256delinsCAG (p.Gln1752=)
c.2044_2046delinsCAG (p.Gln682=)
5g.177292006A>CCA362320289NSD1c.5438A>C (p.Gln1813Pro)
c.953A>C (p.Gln318Pro)
n.5894A>C
n.727A>C
c.6002A>C (p.Gln2001Pro)
n.5708A>C
c.6311A>C (p.Gln2104Pro)
c.5504A>C (p.Gln1835Pro)
n.453A>C
c.1805A>C (p.Gln602Pro)
c.5891A>C (p.Gln1964Pro)
c.5255A>C (p.Gln1752Pro)
c.2045A>C (p.Gln682Pro)
5g.177292006A>GCA362320291NSD1c.5438A>G (p.Gln1813Arg)
c.953A>G (p.Gln318Arg)
n.5894A>G
n.727A>G
c.6002A>G (p.Gln2001Arg)
n.5708A>G
c.6311A>G (p.Gln2104Arg)
c.5504A>G (p.Gln1835Arg)
n.453A>G
c.1805A>G (p.Gln602Arg)
c.5891A>G (p.Gln1964Arg)
c.5255A>G (p.Gln1752Arg)
c.2045A>G (p.Gln682Arg)
5g.177292006A>TCA362320293NSD1c.5438A>T (p.Gln1813Leu)
c.953A>T (p.Gln318Leu)
n.5894A>T
n.727A>T
c.6002A>T (p.Gln2001Leu)
n.5708A>T
c.6311A>T (p.Gln2104Leu)
c.5504A>T (p.Gln1835Leu)
n.453A>T
c.1805A>T (p.Gln602Leu)
c.5891A>T (p.Gln1964Leu)
c.5255A>T (p.Gln1752Leu)
c.2045A>T (p.Gln682Leu)
5g.177292006_177292007delCA295058NSD1c.5438_5439del (p.Gln1813ArgfsTer8)
c.953_954del (p.Gln318ArgfsTer8)
n.5894_5895del
n.727_728del
c.6002_6003del (p.Gln2001ArgfsTer8)
n.5708_5709del
c.6311_6312del (p.Gln2104ArgfsTer8)
c.5504_5505del (p.Gln1835ArgfsTer8)
n.453_454del
c.1805_1806del (p.Gln602ArgfsTer8)
c.5891_5892del (p.Gln1964ArgfsTer8)
c.5255_5256del (p.Gln1752ArgfsTer8)
c.2045_2046del (p.Gln682ArgfsTer8)
 ClinVar dbSNP
5g.177292007G>ACA447740699NSD1c.5439G>A (p.Gln1813=)
c.954G>A (p.Gln318=)
n.5895G>A
n.728G>A
c.6003G>A (p.Gln2001=)
n.5709G>A
c.6312G>A (p.Gln2104=)
c.5505G>A (p.Gln1835=)
n.454G>A
c.1806G>A (p.Gln602=)
c.5892G>A (p.Gln1964=)
c.5256G>A (p.Gln1752=)
c.2046G>A (p.Gln682=)
 dbSNP
5g.177292007G>CCA362320297NSD1c.5439G>C (p.Gln1813His)
c.954G>C (p.Gln318His)
n.5895G>C
n.728G>C
c.6003G>C (p.Gln2001His)
n.5709G>C
c.6312G>C (p.Gln2104His)
c.5505G>C (p.Gln1835His)
n.454G>C
c.1806G>C (p.Gln602His)
c.5892G>C (p.Gln1964His)
c.5256G>C (p.Gln1752His)
c.2046G>C (p.Gln682His)
5g.177292007G>TCA362320299NSD1c.5439G>T (p.Gln1813His)
c.954G>T (p.Gln318His)
n.5895G>T
n.728G>T
c.6003G>T (p.Gln2001His)
n.5709G>T
c.6312G>T (p.Gln2104His)
c.5505G>T (p.Gln1835His)
n.454G>T
c.1806G>T (p.Gln602His)
c.5892G>T (p.Gln1964His)
c.5256G>T (p.Gln1752His)
c.2046G>T (p.Gln682His)
 dbSNP
5g.177292008_177292009delCA2739289827NSD1c.5440_5441del (p.Gly1814LysfsTer7)
c.955_956del (p.Gly319LysfsTer7)
n.5896_5897del
n.729_730del
c.6004_6005del (p.Gly2002LysfsTer7)
n.5710_5711del
c.6313_6314del (p.Gly2105LysfsTer7)
c.5506_5507del (p.Gly1836LysfsTer7)
n.455_456del
c.1807_1808del (p.Gly603LysfsTer7)
c.5893_5894del (p.Gly1965LysfsTer7)
c.5257_5258del (p.Gly1753LysfsTer7)
c.2047_2048del (p.Gly683LysfsTer7)
5g.177292008G>ACA362320300NSD1c.5440G>A (p.Gly1814Arg)
c.955G>A (p.Gly319Arg)
n.5896G>A
n.729G>A
c.6004G>A (p.Gly2002Arg)
n.5710G>A
c.6313G>A (p.Gly2105Arg)
c.5506G>A (p.Gly1836Arg)
n.455G>A
c.1807G>A (p.Gly603Arg)
c.5893G>A (p.Gly1965Arg)
c.5257G>A (p.Gly1753Arg)
c.2047G>A (p.Gly683Arg)
 dbSNP
5g.177292008G>CCA362320304NSD1c.5440G>C (p.Gly1814Arg)
c.955G>C (p.Gly319Arg)
n.5896G>C
n.729G>C
c.6004G>C (p.Gly2002Arg)
n.5710G>C
c.6313G>C (p.Gly2105Arg)
c.5506G>C (p.Gly1836Arg)
n.455G>C
c.1807G>C (p.Gly603Arg)
c.5893G>C (p.Gly1965Arg)
c.5257G>C (p.Gly1753Arg)
c.2047G>C (p.Gly683Arg)
5g.177292008G>TCA362320301NSD1c.5440G>T (p.Gly1814Ter)
c.955G>T (p.Gly319Ter)
n.5896G>T
n.729G>T
c.6004G>T (p.Gly2002Ter)
n.5710G>T
c.6313G>T (p.Gly2105Ter)
c.5506G>T (p.Gly1836Ter)
n.455G>T
c.1807G>T (p.Gly603Ter)
c.5893G>T (p.Gly1965Ter)
c.5257G>T (p.Gly1753Ter)
c.2047G>T (p.Gly683Ter)
5g.177292009G>ACA362320307NSD1c.5441G>A (p.Gly1814Glu)
c.956G>A (p.Gly319Glu)
n.5897G>A
n.730G>A
c.6005G>A (p.Gly2002Glu)
n.5711G>A
c.6314G>A (p.Gly2105Glu)
c.5507G>A (p.Gly1836Glu)
n.456G>A
c.1808G>A (p.Gly603Glu)
c.5894G>A (p.Gly1965Glu)
c.5258G>A (p.Gly1753Glu)
c.2048G>A (p.Gly683Glu)
 ClinVar dbSNP gnomAD v4
5g.177292009G>CCA362320309NSD1c.5441G>C (p.Gly1814Ala)
c.956G>C (p.Gly319Ala)
n.5897G>C
n.730G>C
c.6005G>C (p.Gly2002Ala)
n.5711G>C
c.6314G>C (p.Gly2105Ala)
c.5507G>C (p.Gly1836Ala)
n.456G>C
c.1808G>C (p.Gly603Ala)
c.5894G>C (p.Gly1965Ala)
c.5258G>C (p.Gly1753Ala)
c.2048G>C (p.Gly683Ala)
5g.177292009G=CA1603532741NSD1c.5441G= (p.Gly1814=)
c.956G= (p.Gly319=)
n.5897G=
n.730G=
c.6005G= (p.Gly2002=)
n.5711G=
c.6314G= (p.Gly2105=)
c.5507G= (p.Gly1836=)
n.456G=
c.1808G= (p.Gly603=)
c.5894G= (p.Gly1965=)
c.5258G= (p.Gly1753=)
c.2048G= (p.Gly683=)
5g.177292009G>TCA362320311NSD1c.5441G>T (p.Gly1814Val)
c.956G>T (p.Gly319Val)
n.5897G>T
n.730G>T
c.6005G>T (p.Gly2002Val)
n.5711G>T
c.6314G>T (p.Gly2105Val)
c.5507G>T (p.Gly1836Val)
n.456G>T
c.1808G>T (p.Gly603Val)
c.5894G>T (p.Gly1965Val)
c.5258G>T (p.Gly1753Val)
c.2048G>T (p.Gly683Val)
5g.177292009_177292010delinsGACA1603532740NSD1c.5441_5442delinsGA (p.Gly1814=)
c.956_957delinsGA (p.Gly319=)
n.5897_5898delinsGA
n.730_731delinsGA
c.6005_6006delinsGA (p.Gly2002=)
n.5711_5712delinsGA
c.6314_6315delinsGA (p.Gly2105=)
c.5507_5508delinsGA (p.Gly1836=)
n.456_457delinsGA
c.1808_1809delinsGA (p.Gly603=)
c.5894_5895delinsGA (p.Gly1965=)
c.5258_5259delinsGA (p.Gly1753=)
c.2048_2049delinsGA (p.Gly683=)
5g.177292010A>CCA447740701NSD1c.5442A>C (p.Gly1814=)
c.957A>C (p.Gly319=)
n.5898A>C
n.731A>C
c.6006A>C (p.Gly2002=)
n.5712A>C
c.6315A>C (p.Gly2105=)
c.5508A>C (p.Gly1836=)
n.457A>C
c.1809A>C (p.Gly603=)
c.5895A>C (p.Gly1965=)
c.5259A>C (p.Gly1753=)
c.2049A>C (p.Gly683=)
5g.177292010A>GCA447740702NSD1c.5442A>G (p.Gly1814=)
c.957A>G (p.Gly319=)
n.5898A>G
n.731A>G
c.6006A>G (p.Gly2002=)
n.5712A>G
c.6315A>G (p.Gly2105=)
c.5508A>G (p.Gly1836=)
n.457A>G
c.1809A>G (p.Gly603=)
c.5895A>G (p.Gly1965=)
c.5259A>G (p.Gly1753=)
c.2049A>G (p.Gly683=)
 gnomAD v4
5g.177292010A>TCA447740703NSD1c.5442A>T (p.Gly1814=)
c.957A>T (p.Gly319=)
n.5898A>T
n.731A>T
c.6006A>T (p.Gly2002=)
n.5712A>T
c.6315A>T (p.Gly2105=)
c.5508A>T (p.Gly1836=)
n.457A>T
c.1809A>T (p.Gly603=)
c.5895A>T (p.Gly1965=)
c.5259A>T (p.Gly1753=)
c.2049A>T (p.Gly683=)
5g.177292012delCA891842457NSD1c.5444del (p.Lys1815SerfsTer?)
c.959del (p.Lys320SerfsTer?)
n.5900del
n.733del
c.6008del (p.Lys2003SerfsTer?)
n.5714del
c.6317del (p.Lys2106SerfsTer?)
c.5510del (p.Lys1837SerfsTer?)
n.459del
c.1811del (p.Lys604SerfsTer?)
c.5897del (p.Lys1966SerfsTer?)
c.5261del (p.Lys1754SerfsTer?)
c.2051del (p.Lys684SerfsTer?)
 ClinVar dbSNP
5g.177292011A>CCA362320315NSD1c.5443A>C (p.Lys1815Gln)
c.958A>C (p.Lys320Gln)
n.5899A>C
n.732A>C
c.6007A>C (p.Lys2003Gln)
n.5713A>C
c.6316A>C (p.Lys2106Gln)
c.5509A>C (p.Lys1837Gln)
n.458A>C
c.1810A>C (p.Lys604Gln)
c.5896A>C (p.Lys1966Gln)
c.5260A>C (p.Lys1754Gln)
c.2050A>C (p.Lys684Gln)
5g.177292011A>GCA362320317NSD1c.5443A>G (p.Lys1815Glu)
c.958A>G (p.Lys320Glu)
n.5899A>G
n.732A>G
c.6007A>G (p.Lys2003Glu)
n.5713A>G
c.6316A>G (p.Lys2106Glu)
c.5509A>G (p.Lys1837Glu)
n.458A>G
c.1810A>G (p.Lys604Glu)
c.5896A>G (p.Lys1966Glu)
c.5260A>G (p.Lys1754Glu)
c.2050A>G (p.Lys684Glu)
5g.177292011A>TCA362320321NSD1c.5443A>T (p.Lys1815Ter)
c.958A>T (p.Lys320Ter)
n.5899A>T
n.732A>T
c.6007A>T (p.Lys2003Ter)
n.5713A>T
c.6316A>T (p.Lys2106Ter)
c.5509A>T (p.Lys1837Ter)
n.458A>T
c.1810A>T (p.Lys604Ter)
c.5896A>T (p.Lys1966Ter)
c.5260A>T (p.Lys1754Ter)
c.2050A>T (p.Lys684Ter)
5g.177292012A=CA1603532754NSD1c.5444A= (p.Lys1815=)
c.959A= (p.Lys320=)
n.5900A=
n.733A=
c.6008A= (p.Lys2003=)
n.5714A=
c.6317A= (p.Lys2106=)
c.5510A= (p.Lys1837=)
n.459A=
c.1811A= (p.Lys604=)
c.5897A= (p.Lys1966=)
c.5261A= (p.Lys1754=)
c.2051A= (p.Lys684=)
5g.177292012A>CCA362320329NSD1c.5444A>C (p.Lys1815Thr)
c.959A>C (p.Lys320Thr)
n.5900A>C
n.733A>C
c.6008A>C (p.Lys2003Thr)
n.5714A>C
c.6317A>C (p.Lys2106Thr)
c.5510A>C (p.Lys1837Thr)
n.459A>C
c.1811A>C (p.Lys604Thr)
c.5897A>C (p.Lys1966Thr)
c.5261A>C (p.Lys1754Thr)
c.2051A>C (p.Lys684Thr)
5g.177292012A>GCA362320324NSD1c.5444A>G (p.Lys1815Arg)
c.959A>G (p.Lys320Arg)
n.5900A>G
n.733A>G
c.6008A>G (p.Lys2003Arg)
n.5714A>G
c.6317A>G (p.Lys2106Arg)
c.5510A>G (p.Lys1837Arg)
n.459A>G
c.1811A>G (p.Lys604Arg)
c.5897A>G (p.Lys1966Arg)
c.5261A>G (p.Lys1754Arg)
c.2051A>G (p.Lys684Arg)
5g.177292012A>TCA3577977NSD1c.5444A>T (p.Lys1815Met)
c.959A>T (p.Lys320Met)
n.5900A>T
n.733A>T
c.6008A>T (p.Lys2003Met)
n.5714A>T
c.6317A>T (p.Lys2106Met)
c.5510A>T (p.Lys1837Met)
n.459A>T
c.1811A>T (p.Lys604Met)
c.5897A>T (p.Lys1966Met)
c.5261A>T (p.Lys1754Met)
c.2051A>T (p.Lys684Met)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
5g.177292013G>ACA447740705NSD1c.5445G>A (p.Lys1815=)
c.960G>A (p.Lys320=)
n.5901G>A
n.734G>A
c.6009G>A (p.Lys2003=)
n.5715G>A
c.6318G>A (p.Lys2106=)
c.5511G>A (p.Lys1837=)
n.460G>A
c.1812G>A (p.Lys604=)
c.5898G>A (p.Lys1966=)
c.5262G>A (p.Lys1754=)
c.2052G>A (p.Lys684=)
5g.177292013G>CCA362320332NSD1c.5445G>C (p.Lys1815Asn)
c.960G>C (p.Lys320Asn)
n.5901G>C
n.734G>C
c.6009G>C (p.Lys2003Asn)
n.5715G>C
c.6318G>C (p.Lys2106Asn)
c.5511G>C (p.Lys1837Asn)
n.460G>C
c.1812G>C (p.Lys604Asn)
c.5898G>C (p.Lys1966Asn)
c.5262G>C (p.Lys1754Asn)
c.2052G>C (p.Lys684Asn)
5g.177292013G>TCA362320333NSD1c.5445G>T (p.Lys1815Asn)
c.960G>T (p.Lys320Asn)
n.5901G>T
n.734G>T
c.6009G>T (p.Lys2003Asn)
n.5715G>T
c.6318G>T (p.Lys2106Asn)
c.5511G>T (p.Lys1837Asn)
n.460G>T
c.1812G>T (p.Lys604Asn)
c.5898G>T (p.Lys1966Asn)
c.5262G>T (p.Lys1754Asn)
c.2052G>T (p.Lys684Asn)
5g.177292014C>ACA362320337NSD1c.5446C>A (p.Arg1816Ser)
c.961C>A (p.Arg321Ser)
n.5902C>A
n.735C>A
c.6010C>A (p.Arg2004Ser)
n.5716C>A
c.6319C>A (p.Arg2107Ser)
c.5512C>A (p.Arg1838Ser)
n.461C>A
c.1813C>A (p.Arg605Ser)
c.5899C>A (p.Arg1967Ser)
c.5263C>A (p.Arg1755Ser)
c.2053C>A (p.Arg685Ser)
5g.177292014C=CA1603532757NSD1c.5446C= (p.Arg1816=)
c.961C= (p.Arg321=)
n.5902C=
n.735C=
c.6010C= (p.Arg2004=)
n.5716C=
c.6319C= (p.Arg2107=)
c.5512C= (p.Arg1838=)
n.461C=
c.1813C= (p.Arg605=)
c.5899C= (p.Arg1967=)
c.5263C= (p.Arg1755=)
c.2053C= (p.Arg685=)
5g.177292014C>GCA362320340NSD1c.5446C>G (p.Arg1816Gly)
c.961C>G (p.Arg321Gly)
n.5902C>G
n.735C>G
c.6010C>G (p.Arg2004Gly)
n.5716C>G
c.6319C>G (p.Arg2107Gly)
c.5512C>G (p.Arg1838Gly)
n.461C>G
c.1813C>G (p.Arg605Gly)
c.5899C>G (p.Arg1967Gly)
c.5263C>G (p.Arg1755Gly)
c.2053C>G (p.Arg685Gly)
 dbSNP
5g.177292014C>TCA362320341NSD1c.5446C>T (p.Arg1816Cys)
c.961C>T (p.Arg321Cys)
n.5902C>T
n.735C>T
c.6010C>T (p.Arg2004Cys)
n.5716C>T
c.6319C>T (p.Arg2107Cys)
c.5512C>T (p.Arg1838Cys)
n.461C>T
c.1813C>T (p.Arg605Cys)
c.5899C>T (p.Arg1967Cys)
c.5263C>T (p.Arg1755Cys)
c.2053C>T (p.Arg685Cys)
 dbSNP gnomAD v4
5g.177292015G>ACA362320344NSD1c.5447G>A (p.Arg1816His)
c.962G>A (p.Arg321His)
n.5903G>A
n.736G>A
c.6011G>A (p.Arg2004His)
n.5717G>A
c.6320G>A (p.Arg2107His)
c.5513G>A (p.Arg1838His)
n.462G>A
c.1814G>A (p.Arg605His)
c.5900G>A (p.Arg1967His)
c.5264G>A (p.Arg1755His)
c.2054G>A (p.Arg685His)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.177292015G>CCA362320348NSD1c.5447G>C (p.Arg1816Pro)
c.962G>C (p.Arg321Pro)
n.5903G>C
n.736G>C
c.6011G>C (p.Arg2004Pro)
n.5717G>C
c.6320G>C (p.Arg2107Pro)
c.5513G>C (p.Arg1838Pro)
n.462G>C
c.1814G>C (p.Arg605Pro)
c.5900G>C (p.Arg1967Pro)
c.5264G>C (p.Arg1755Pro)
c.2054G>C (p.Arg685Pro)
5g.177292015G=CA1603532763NSD1c.5447G= (p.Arg1816=)
c.962G= (p.Arg321=)
n.5903G=
n.736G=
c.6011G= (p.Arg2004=)
n.5717G=
c.6320G= (p.Arg2107=)
c.5513G= (p.Arg1838=)
n.462G=
c.1814G= (p.Arg605=)
c.5900G= (p.Arg1967=)
c.5264G= (p.Arg1755=)
c.2054G= (p.Arg685=)
5g.177292015G>TCA362320345NSD1c.5447G>T (p.Arg1816Leu)
c.962G>T (p.Arg321Leu)
n.5903G>T
n.736G>T
c.6011G>T (p.Arg2004Leu)
n.5717G>T
c.6320G>T (p.Arg2107Leu)
c.5513G>T (p.Arg1838Leu)
n.462G>T
c.1814G>T (p.Arg605Leu)
c.5900G>T (p.Arg1967Leu)
c.5264G>T (p.Arg1755Leu)
c.2054G>T (p.Arg685Leu)
5g.177292016C>ACA447740706NSD1c.5448C>A (p.Arg1816=)
c.963C>A (p.Arg321=)
n.5904C>A
n.737C>A
c.6012C>A (p.Arg2004=)
n.5718C>A
c.6321C>A (p.Arg2107=)
c.5514C>A (p.Arg1838=)
n.463C>A
c.1815C>A (p.Arg605=)
c.5901C>A (p.Arg1967=)
c.5265C>A (p.Arg1755=)
c.2055C>A (p.Arg685=)
5g.177292016C>GCA447740707NSD1c.5448C>G (p.Arg1816=)
c.963C>G (p.Arg321=)
n.5904C>G
n.737C>G
c.6012C>G (p.Arg2004=)
n.5718C>G
c.6321C>G (p.Arg2107=)
c.5514C>G (p.Arg1838=)
n.463C>G
c.1815C>G (p.Arg605=)
c.5901C>G (p.Arg1967=)
c.5265C>G (p.Arg1755=)
c.2055C>G (p.Arg685=)
5g.177292016C>TCA447740708NSD1c.5448C>T (p.Arg1816=)
c.963C>T (p.Arg321=)
n.5904C>T
n.737C>T
c.6012C>T (p.Arg2004=)
n.5718C>T
c.6321C>T (p.Arg2107=)
c.5514C>T (p.Arg1838=)
n.463C>T
c.1815C>T (p.Arg605=)
c.5901C>T (p.Arg1967=)
c.5265C>T (p.Arg1755=)
c.2055C>T (p.Arg685=)
5g.177292017A>CCA447740709NSD1c.5449A>C (p.Arg1817=)
c.964A>C (p.Arg322=)
n.5905A>C
n.738A>C
c.6013A>C (p.Arg2005=)
n.5719A>C
c.6322A>C (p.Arg2108=)
c.5515A>C (p.Arg1839=)
n.464A>C
c.1816A>C (p.Arg606=)
c.5902A>C (p.Arg1968=)
c.5266A>C (p.Arg1756=)
c.2056A>C (p.Arg686=)
5g.177292017A>GCA362320350NSD1c.5449A>G (p.Arg1817Gly)
c.964A>G (p.Arg322Gly)
n.5905A>G
n.738A>G
c.6013A>G (p.Arg2005Gly)
n.5719A>G
c.6322A>G (p.Arg2108Gly)
c.5515A>G (p.Arg1839Gly)
n.464A>G
c.1816A>G (p.Arg606Gly)
c.5902A>G (p.Arg1968Gly)
c.5266A>G (p.Arg1756Gly)
c.2056A>G (p.Arg686Gly)
5g.177292017A>TCA362320351NSD1c.5449A>T (p.Arg1817Trp)
c.964A>T (p.Arg322Trp)
n.5905A>T
n.738A>T
c.6013A>T (p.Arg2005Trp)
n.5719A>T
c.6322A>T (p.Arg2108Trp)
c.5515A>T (p.Arg1839Trp)
n.464A>T
c.1816A>T (p.Arg606Trp)
c.5902A>T (p.Arg1968Trp)
c.5266A>T (p.Arg1756Trp)
c.2056A>T (p.Arg686Trp)
5g.177292018G>ACA362320354NSD1c.5450G>A (p.Arg1817Lys)
c.965G>A (p.Arg322Lys)
n.5906G>A
n.739G>A
c.6014G>A (p.Arg2005Lys)
n.5720G>A
c.6323G>A (p.Arg2108Lys)
c.5516G>A (p.Arg1839Lys)
n.465G>A
c.1817G>A (p.Arg606Lys)
c.5903G>A (p.Arg1968Lys)
c.5267G>A (p.Arg1756Lys)
c.2057G>A (p.Arg686Lys)
 dbSNP
5g.177292018G>CCA362320357NSD1c.5450G>C (p.Arg1817Thr)
c.965G>C (p.Arg322Thr)
n.5906G>C
n.739G>C
c.6014G>C (p.Arg2005Thr)
n.5720G>C
c.6323G>C (p.Arg2108Thr)
c.5516G>C (p.Arg1839Thr)
n.465G>C
c.1817G>C (p.Arg606Thr)
c.5903G>C (p.Arg1968Thr)
c.5267G>C (p.Arg1756Thr)
c.2057G>C (p.Arg686Thr)
5g.177292018G>TCA362320360NSD1c.5450G>T (p.Arg1817Met)
c.965G>T (p.Arg322Met)
n.5906G>T
n.739G>T
c.6014G>T (p.Arg2005Met)
n.5720G>T
c.6323G>T (p.Arg2108Met)
c.5516G>T (p.Arg1839Met)
n.465G>T
c.1817G>T (p.Arg606Met)
c.5903G>T (p.Arg1968Met)
c.5267G>T (p.Arg1756Met)
c.2057G>T (p.Arg686Met)
5g.177292019delCA645548642NSD1c.5451del (p.Thr1818ProfsTer?)
c.966del (p.Thr323ProfsTer?)
n.5907del
n.740del
c.6015del (p.Thr2006ProfsTer?)
n.5721del
c.6324del (p.Thr2109ProfsTer?)
c.5517del (p.Thr1840ProfsTer?)
n.466del
c.1818del (p.Thr607ProfsTer?)
c.5904del (p.Thr1969ProfsTer?)
c.5268del (p.Thr1757ProfsTer?)
c.2058del (p.Thr687ProfsTer?)
 COSMIC COSMIC
5g.177292019G>ACA447740711NSD1c.5451G>A (p.Arg1817=)
c.966G>A (p.Arg322=)
n.5907G>A
n.740G>A
c.6015G>A (p.Arg2005=)
n.5721G>A
c.6324G>A (p.Arg2108=)
c.5517G>A (p.Arg1839=)
n.466G>A
c.1818G>A (p.Arg606=)
c.5904G>A (p.Arg1968=)
c.5268G>A (p.Arg1756=)
c.2058G>A (p.Arg686=)
 dbSNP gnomAD v2 gnomAD v4
5g.177292019G>CCA362320363NSD1c.5451G>C (p.Arg1817Ser)
c.966G>C (p.Arg322Ser)
n.5907G>C
n.740G>C
c.6015G>C (p.Arg2005Ser)
n.5721G>C
c.6324G>C (p.Arg2108Ser)
c.5517G>C (p.Arg1839Ser)
n.466G>C
c.1818G>C (p.Arg606Ser)
c.5904G>C (p.Arg1968Ser)
c.5268G>C (p.Arg1756Ser)
c.2058G>C (p.Arg686Ser)
5g.177292019G=CA1603532781NSD1c.5451G= (p.Arg1817=)
c.966G= (p.Arg322=)
n.5907G=
n.740G=
c.6015G= (p.Arg2005=)
n.5721G=
c.6324G= (p.Arg2108=)
c.5517G= (p.Arg1839=)
n.466G=
c.1818G= (p.Arg606=)
c.5904G= (p.Arg1968=)
c.5268G= (p.Arg1756=)
c.2058G= (p.Arg686=)
5g.177292019G>TCA362320366NSD1c.5451G>T (p.Arg1817Ser)
c.966G>T (p.Arg322Ser)
n.5907G>T
n.740G>T
c.6015G>T (p.Arg2005Ser)
n.5721G>T
c.6324G>T (p.Arg2108Ser)
c.5517G>T (p.Arg1839Ser)
n.466G>T
c.1818G>T (p.Arg606Ser)
c.5904G>T (p.Arg1968Ser)
c.5268G>T (p.Arg1756Ser)
c.2058G>T (p.Arg686Ser)
5g.177292020A>CCA362320368NSD1c.5452A>C (p.Thr1818Pro)
c.967A>C (p.Thr323Pro)
n.5908A>C
n.741A>C
c.6016A>C (p.Thr2006Pro)
n.5722A>C
c.6325A>C (p.Thr2109Pro)
c.5518A>C (p.Thr1840Pro)
n.467A>C
c.1819A>C (p.Thr607Pro)
c.5905A>C (p.Thr1969Pro)
c.5269A>C (p.Thr1757Pro)
c.2059A>C (p.Thr687Pro)
5g.177292020A>GCA362320372NSD1c.5452A>G (p.Thr1818Ala)
c.967A>G (p.Thr323Ala)
n.5908A>G
n.741A>G
c.6016A>G (p.Thr2006Ala)
n.5722A>G
c.6325A>G (p.Thr2109Ala)
c.5518A>G (p.Thr1840Ala)
n.467A>G
c.1819A>G (p.Thr607Ala)
c.5905A>G (p.Thr1969Ala)
c.5269A>G (p.Thr1757Ala)
c.2059A>G (p.Thr687Ala)
5g.177292020A>TCA362320373NSD1c.5452A>T (p.Thr1818Ser)
c.967A>T (p.Thr323Ser)
n.5908A>T
n.741A>T
c.6016A>T (p.Thr2006Ser)
n.5722A>T
c.6325A>T (p.Thr2109Ser)
c.5518A>T (p.Thr1840Ser)
n.467A>T
c.1819A>T (p.Thr607Ser)
c.5905A>T (p.Thr1969Ser)
c.5269A>T (p.Thr1757Ser)
c.2059A>T (p.Thr687Ser)
5g.177292021C>ACA362320376NSD1c.5453C>A (p.Thr1818Asn)
c.968C>A (p.Thr323Asn)
n.5909C>A
n.742C>A
c.6017C>A (p.Thr2006Asn)
n.5723C>A
c.6326C>A (p.Thr2109Asn)
c.5519C>A (p.Thr1840Asn)
n.468C>A
c.1820C>A (p.Thr607Asn)
c.5906C>A (p.Thr1969Asn)
c.5270C>A (p.Thr1757Asn)
c.2060C>A (p.Thr687Asn)
5g.177292021C>GCA362320381NSD1c.5453C>G (p.Thr1818Ser)
c.968C>G (p.Thr323Ser)
n.5909C>G
n.742C>G
c.6017C>G (p.Thr2006Ser)
n.5723C>G
c.6326C>G (p.Thr2109Ser)
c.5519C>G (p.Thr1840Ser)
n.468C>G
c.1820C>G (p.Thr607Ser)
c.5906C>G (p.Thr1969Ser)
c.5270C>G (p.Thr1757Ser)
c.2060C>G (p.Thr687Ser)
 dbSNP
5g.177292021C>TCA362320379NSD1c.5453C>T (p.Thr1818Ile)
c.968C>T (p.Thr323Ile)
n.5909C>T
n.742C>T
c.6017C>T (p.Thr2006Ile)
n.5723C>T
c.6326C>T (p.Thr2109Ile)
c.5519C>T (p.Thr1840Ile)
n.468C>T
c.1820C>T (p.Thr607Ile)
c.5906C>T (p.Thr1969Ile)
c.5270C>T (p.Thr1757Ile)
c.2060C>T (p.Thr687Ile)
 gnomAD v4
5g.177292022C>ACA447740715NSD1c.5454C>A (p.Thr1818=)
c.969C>A (p.Thr323=)
n.5910C>A
n.743C>A
c.6018C>A (p.Thr2006=)
n.5724C>A
c.6327C>A (p.Thr2109=)
c.5520C>A (p.Thr1840=)
n.469C>A
c.1821C>A (p.Thr607=)
c.5907C>A (p.Thr1969=)
c.5271C>A (p.Thr1757=)
c.2061C>A (p.Thr687=)
5g.177292022C=CA1603532783NSD1c.5454C= (p.Thr1818=)
c.969C= (p.Thr323=)
n.5910C=
n.743C=
c.6018C= (p.Thr2006=)
n.5724C=
c.6327C= (p.Thr2109=)
c.5520C= (p.Thr1840=)
n.469C=
c.1821C= (p.Thr607=)
c.5907C= (p.Thr1969=)
c.5271C= (p.Thr1757=)
c.2061C= (p.Thr687=)
5g.177292022C>GCA447740716NSD1c.5454C>G (p.Thr1818=)
c.969C>G (p.Thr323=)
n.5910C>G
n.743C>G
c.6018C>G (p.Thr2006=)
n.5724C>G
c.6327C>G (p.Thr2109=)
c.5520C>G (p.Thr1840=)
n.469C>G
c.1821C>G (p.Thr607=)
c.5907C>G (p.Thr1969=)
c.5271C>G (p.Thr1757=)
c.2061C>G (p.Thr687=)
 dbSNP gnomAD v3 gnomAD v4
5g.177292022C>TCA447740718NSD1c.5454C>T (p.Thr1818=)
c.969C>T (p.Thr323=)
n.5910C>T
n.743C>T
c.6018C>T (p.Thr2006=)
n.5724C>T
c.6327C>T (p.Thr2109=)
c.5520C>T (p.Thr1840=)
n.469C>T
c.1821C>T (p.Thr607=)
c.5907C>T (p.Thr1969=)
c.5271C>T (p.Thr1757=)
c.2061C>T (p.Thr687=)
5g.177292023C>ACA362320384NSD1c.5455C>A (p.Gln1819Lys)
c.970C>A (p.Gln324Lys)
n.5911C>A
n.744C>A
c.6019C>A (p.Gln2007Lys)
n.5725C>A
c.6328C>A (p.Gln2110Lys)
c.5521C>A (p.Gln1841Lys)
n.470C>A
c.1822C>A (p.Gln608Lys)
c.5908C>A (p.Gln1970Lys)
c.5272C>A (p.Gln1758Lys)
c.2062C>A (p.Gln688Lys)
5g.177292023C=CA1603532791NSD1c.5455C= (p.Gln1819=)
c.970C= (p.Gln324=)
n.5911C=
n.744C=
c.6019C= (p.Gln2007=)
n.5725C=
c.6328C= (p.Gln2110=)
c.5521C= (p.Gln1841=)
n.470C=
c.1822C= (p.Gln608=)
c.5908C= (p.Gln1970=)
c.5272C= (p.Gln1758=)
c.2062C= (p.Gln688=)
5g.177292023C>GCA362320390NSD1c.5455C>G (p.Gln1819Glu)
c.970C>G (p.Gln324Glu)
n.5911C>G
n.744C>G
c.6019C>G (p.Gln2007Glu)
n.5725C>G
c.6328C>G (p.Gln2110Glu)
c.5521C>G (p.Gln1841Glu)
n.470C>G
c.1822C>G (p.Gln608Glu)
c.5908C>G (p.Gln1970Glu)
c.5272C>G (p.Gln1758Glu)
c.2062C>G (p.Gln688Glu)
5g.177292023C>TCA362320387NSD1c.5455C>T (p.Gln1819Ter)
c.970C>T (p.Gln324Ter)
n.5911C>T
n.744C>T
c.6019C>T (p.Gln2007Ter)
n.5725C>T
c.6328C>T (p.Gln2110Ter)
c.5521C>T (p.Gln1841Ter)
n.470C>T
c.1822C>T (p.Gln608Ter)
c.5908C>T (p.Gln1970Ter)
c.5272C>T (p.Gln1758Ter)
c.2062C>T (p.Gln688Ter)
 ClinVar dbSNP
5g.177292024A=CA1603532798NSD1c.5456A= (p.Gln1819=)
c.971A= (p.Gln324=)
n.5912A=
n.745A=
c.6020A= (p.Gln2007=)
n.5726A=
c.6329A= (p.Gln2110=)
c.5522A= (p.Gln1841=)
n.471A=
c.1823A= (p.Gln608=)
c.5909A= (p.Gln1970=)
c.5273A= (p.Gln1758=)
c.2063A= (p.Gln688=)
5g.177292024A>CCA362320393NSD1c.5456A>C (p.Gln1819Pro)
c.971A>C (p.Gln324Pro)
n.5912A>C
n.745A>C
c.6020A>C (p.Gln2007Pro)
n.5726A>C
c.6329A>C (p.Gln2110Pro)
c.5522A>C (p.Gln1841Pro)
n.471A>C
c.1823A>C (p.Gln608Pro)
c.5909A>C (p.Gln1970Pro)
c.5273A>C (p.Gln1758Pro)
c.2063A>C (p.Gln688Pro)
5g.177292024A>GCA3577978NSD1c.5456A>G (p.Gln1819Arg)
c.971A>G (p.Gln324Arg)
n.5912A>G
n.745A>G
c.6020A>G (p.Gln2007Arg)
n.5726A>G
c.6329A>G (p.Gln2110Arg)
c.5522A>G (p.Gln1841Arg)
n.471A>G
c.1823A>G (p.Gln608Arg)
c.5909A>G (p.Gln1970Arg)
c.5273A>G (p.Gln1758Arg)
c.2063A>G (p.Gln688Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.177292024A>TCA362320397NSD1c.5456A>T (p.Gln1819Leu)
c.971A>T (p.Gln324Leu)
n.5912A>T
n.745A>T
c.6020A>T (p.Gln2007Leu)
n.5726A>T
c.6329A>T (p.Gln2110Leu)
c.5522A>T (p.Gln1841Leu)
n.471A>T
c.1823A>T (p.Gln608Leu)
c.5909A>T (p.Gln1970Leu)
c.5273A>T (p.Gln1758Leu)
c.2063A>T (p.Gln688Leu)
 dbSNP COSMIC COSMIC
5g.177292025G>ACA447740719NSD1c.5457G>A (p.Gln1819=)
c.972G>A (p.Gln324=)
n.5913G>A
n.746G>A
c.6021G>A (p.Gln2007=)
n.5727G>A
c.6330G>A (p.Gln2110=)
c.5523G>A (p.Gln1841=)
n.472G>A
c.1824G>A (p.Gln608=)
c.5910G>A (p.Gln1970=)
c.5274G>A (p.Gln1758=)
c.2064G>A (p.Gln688=)
5g.177292025G>CCA362320400NSD1c.5457G>C (p.Gln1819His)
c.972G>C (p.Gln324His)
n.5913G>C
n.746G>C
c.6021G>C (p.Gln2007His)
n.5727G>C
c.6330G>C (p.Gln2110His)
c.5523G>C (p.Gln1841His)
n.472G>C
c.1824G>C (p.Gln608His)
c.5910G>C (p.Gln1970His)
c.5274G>C (p.Gln1758His)
c.2064G>C (p.Gln688His)
5g.177292025G>TCA362320402NSD1c.5457G>T (p.Gln1819His)
c.972G>T (p.Gln324His)
n.5913G>T
n.746G>T
c.6021G>T (p.Gln2007His)
n.5727G>T
c.6330G>T (p.Gln2110His)
c.5523G>T (p.Gln1841His)
n.472G>T
c.1824G>T (p.Gln608His)
c.5910G>T (p.Gln1970His)
c.5274G>T (p.Gln1758His)
c.2064G>T (p.Gln688His)
5g.177292026G>ACA362320405NSD1c.5458G>A (p.Gly1820Ser)
c.973G>A (p.Gly325Ser)
n.5914G>A
n.747G>A
c.6022G>A (p.Gly2008Ser)
n.5728G>A
c.6331G>A (p.Gly2111Ser)
c.5524G>A (p.Gly1842Ser)
n.473G>A
c.1825G>A (p.Gly609Ser)
c.5911G>A (p.Gly1971Ser)
c.5275G>A (p.Gly1759Ser)
c.2065G>A (p.Gly689Ser)
5g.177292026G>CCA362320410NSD1c.5458G>C (p.Gly1820Arg)
c.973G>C (p.Gly325Arg)
n.5914G>C
n.747G>C
c.6022G>C (p.Gly2008Arg)
n.5728G>C
c.6331G>C (p.Gly2111Arg)
c.5524G>C (p.Gly1842Arg)
n.473G>C
c.1825G>C (p.Gly609Arg)
c.5911G>C (p.Gly1971Arg)
c.5275G>C (p.Gly1759Arg)
c.2065G>C (p.Gly689Arg)
5g.177292026G=CA1603532801NSD1c.5458G= (p.Gly1820=)
c.973G= (p.Gly325=)
n.5914G=
n.747G=
c.6022G= (p.Gly2008=)
n.5728G=
c.6331G= (p.Gly2111=)
c.5524G= (p.Gly1842=)
n.473G=
c.1825G= (p.Gly609=)
c.5911G= (p.Gly1971=)
c.5275G= (p.Gly1759=)
c.2065G= (p.Gly689=)
5g.177292026G>TCA362320408NSD1c.5458G>T (p.Gly1820Cys)
c.973G>T (p.Gly325Cys)
n.5914G>T
n.747G>T
c.6022G>T (p.Gly2008Cys)
n.5728G>T
c.6331G>T (p.Gly2111Cys)
c.5524G>T (p.Gly1842Cys)
n.473G>T
c.1825G>T (p.Gly609Cys)
c.5911G>T (p.Gly1971Cys)
c.5275G>T (p.Gly1759Cys)
c.2065G>T (p.Gly689Cys)
 dbSNP gnomAD v4
5g.177292027G>ACA362320414NSD1c.5459G>A (p.Gly1820Asp)
c.974G>A (p.Gly325Asp)
n.5915G>A
n.748G>A
c.6023G>A (p.Gly2008Asp)
n.5729G>A
c.6332G>A (p.Gly2111Asp)
c.5525G>A (p.Gly1842Asp)
n.474G>A
c.1826G>A (p.Gly609Asp)
c.5912G>A (p.Gly1971Asp)
c.5276G>A (p.Gly1759Asp)
c.2066G>A (p.Gly689Asp)
 dbSNP
5g.177292027G>CCA362320417NSD1c.5459G>C (p.Gly1820Ala)
c.974G>C (p.Gly325Ala)
n.5915G>C
n.748G>C
c.6023G>C (p.Gly2008Ala)
n.5729G>C
c.6332G>C (p.Gly2111Ala)
c.5525G>C (p.Gly1842Ala)
n.474G>C
c.1826G>C (p.Gly609Ala)
c.5912G>C (p.Gly1971Ala)
c.5276G>C (p.Gly1759Ala)
c.2066G>C (p.Gly689Ala)
5g.177292027G>TCA362320419NSD1c.5459G>T (p.Gly1820Val)
c.974G>T (p.Gly325Val)
n.5915G>T
n.748G>T
c.6023G>T (p.Gly2008Val)
n.5729G>T
c.6332G>T (p.Gly2111Val)
c.5525G>T (p.Gly1842Val)
n.474G>T
c.1826G>T (p.Gly609Val)
c.5912G>T (p.Gly1971Val)
c.5276G>T (p.Gly1759Val)
c.2066G>T (p.Gly689Val)
5g.177292028T>ACA447740725NSD1c.5460T>A (p.Gly1820=)
c.975T>A (p.Gly325=)
n.5916T>A
n.749T>A
c.6024T>A (p.Gly2008=)
n.5730T>A
c.6333T>A (p.Gly2111=)
c.5526T>A (p.Gly1842=)
n.475T>A
c.1827T>A (p.Gly609=)
c.5913T>A (p.Gly1971=)
c.5277T>A (p.Gly1759=)
c.2067T>A (p.Gly689=)
 dbSNP gnomAD v4
5g.177292028T>CCA447740724NSD1c.5460T>C (p.Gly1820=)
c.975T>C (p.Gly325=)
n.5916T>C
n.749T>C
c.6024T>C (p.Gly2008=)
n.5730T>C
c.6333T>C (p.Gly2111=)
c.5526T>C (p.Gly1842=)
n.475T>C
c.1827T>C (p.Gly609=)
c.5913T>C (p.Gly1971=)
c.5277T>C (p.Gly1759=)
c.2067T>C (p.Gly689=)
 gnomAD v4
5g.177292028T>GCA447740723NSD1c.5460T>G (p.Gly1820=)
c.975T>G (p.Gly325=)
n.5916T>G
n.749T>G
c.6024T>G (p.Gly2008=)
n.5730T>G
c.6333T>G (p.Gly2111=)
c.5526T>G (p.Gly1842=)
n.475T>G
c.1827T>G (p.Gly609=)
c.5913T>G (p.Gly1971=)
c.5277T>G (p.Gly1759=)
c.2067T>G (p.Gly689=)
5g.177292028T=CA1603532804NSD1c.5460T= (p.Gly1820=)
c.975T= (p.Gly325=)
n.5916T=
n.749T=
c.6024T= (p.Gly2008=)
n.5730T=
c.6333T= (p.Gly2111=)
c.5526T= (p.Gly1842=)
n.475T=
c.1827T= (p.Gly609=)
c.5913T= (p.Gly1971=)
c.5277T= (p.Gly1759=)
c.2067T= (p.Gly689=)
5g.177292029G>ACA362320423NSD1c.5461G>A (p.Glu1821Lys)
c.976G>A (p.Glu326Lys)
n.5917G>A
n.750G>A
c.6025G>A (p.Glu2009Lys)
n.5731G>A
c.6334G>A (p.Glu2112Lys)
c.5527G>A (p.Glu1843Lys)
n.476G>A
c.1828G>A (p.Glu610Lys)
c.5914G>A (p.Glu1972Lys)
c.5278G>A (p.Glu1760Lys)
c.2068G>A (p.Glu690Lys)
 dbSNP
5g.177292029G>CCA362320426NSD1c.5461G>C (p.Glu1821Gln)
c.976G>C (p.Glu326Gln)
n.5917G>C
n.750G>C
c.6025G>C (p.Glu2009Gln)
n.5731G>C
c.6334G>C (p.Glu2112Gln)
c.5527G>C (p.Glu1843Gln)
n.476G>C
c.1828G>C (p.Glu610Gln)
c.5914G>C (p.Glu1972Gln)
c.5278G>C (p.Glu1760Gln)
c.2068G>C (p.Glu690Gln)
5g.177292029G>TCA362320428NSD1c.5461G>T (p.Glu1821Ter)
c.976G>T (p.Glu326Ter)
n.5917G>T
n.750G>T
c.6025G>T (p.Glu2009Ter)
n.5731G>T
c.6334G>T (p.Glu2112Ter)
c.5527G>T (p.Glu1843Ter)
n.476G>T
c.1828G>T (p.Glu610Ter)
c.5914G>T (p.Glu1972Ter)
c.5278G>T (p.Glu1760Ter)
c.2068G>T (p.Glu690Ter)
5g.177292030A>CCA362320431NSD1c.5462A>C (p.Glu1821Ala)
c.977A>C (p.Glu326Ala)
n.5918A>C
n.751A>C
c.6026A>C (p.Glu2009Ala)
n.5732A>C
c.6335A>C (p.Glu2112Ala)
c.5528A>C (p.Glu1843Ala)
n.477A>C
c.1829A>C (p.Glu610Ala)
c.5915A>C (p.Glu1972Ala)
c.5279A>C (p.Glu1760Ala)
c.2069A>C (p.Glu690Ala)
5g.177292030A>GCA362320434NSD1c.5462A>G (p.Glu1821Gly)
c.977A>G (p.Glu326Gly)
n.5918A>G
n.751A>G
c.6026A>G (p.Glu2009Gly)
n.5732A>G
c.6335A>G (p.Glu2112Gly)
c.5528A>G (p.Glu1843Gly)
n.477A>G
c.1829A>G (p.Glu610Gly)
c.5915A>G (p.Glu1972Gly)
c.5279A>G (p.Glu1760Gly)
c.2069A>G (p.Glu690Gly)
5g.177292030A>TCA362320436NSD1c.5462A>T (p.Glu1821Val)
c.977A>T (p.Glu326Val)
n.5918A>T
n.751A>T
c.6026A>T (p.Glu2009Val)
n.5732A>T
c.6335A>T (p.Glu2112Val)
c.5528A>T (p.Glu1843Val)
n.477A>T
c.1829A>T (p.Glu610Val)
c.5915A>T (p.Glu1972Val)
c.5279A>T (p.Glu1760Val)
c.2069A>T (p.Glu690Val)
5g.177292031A>CCA362320437NSD1c.5463A>C (p.Glu1821Asp)
c.978A>C (p.Glu326Asp)
n.5919A>C
n.752A>C
c.6027A>C (p.Glu2009Asp)
n.5733A>C
c.6336A>C (p.Glu2112Asp)
c.5529A>C (p.Glu1843Asp)
n.478A>C
c.1830A>C (p.Glu610Asp)
c.5916A>C (p.Glu1972Asp)
c.5280A>C (p.Glu1760Asp)
c.2070A>C (p.Glu690Asp)
5g.177292031A>GCA447740726NSD1c.5463A>G (p.Glu1821=)
c.978A>G (p.Glu326=)
n.5919A>G
n.752A>G
c.6027A>G (p.Glu2009=)
n.5733A>G
c.6336A>G (p.Glu2112=)
c.5529A>G (p.Glu1843=)
n.478A>G
c.1830A>G (p.Glu610=)
c.5916A>G (p.Glu1972=)
c.5280A>G (p.Glu1760=)
c.2070A>G (p.Glu690=)
5g.177292031A>TCA362320438NSD1c.5463A>T (p.Glu1821Asp)
c.978A>T (p.Glu326Asp)
n.5919A>T
n.752A>T
c.6027A>T (p.Glu2009Asp)
n.5733A>T
c.6336A>T (p.Glu2112Asp)
c.5529A>T (p.Glu1843Asp)
n.478A>T
c.1830A>T (p.Glu610Asp)
c.5916A>T (p.Glu1972Asp)
c.5280A>T (p.Glu1760Asp)
c.2070A>T (p.Glu690Asp)
5g.177292032A>CCA362320445NSD1c.5464A>C (p.Ile1822Leu)
c.979A>C (p.Ile327Leu)
n.5920A>C
n.753A>C
c.6028A>C (p.Ile2010Leu)
n.5734A>C
c.6337A>C (p.Ile2113Leu)
c.5530A>C (p.Ile1844Leu)
n.479A>C
c.1831A>C (p.Ile611Leu)
c.5917A>C (p.Ile1973Leu)
c.5281A>C (p.Ile1761Leu)
c.2071A>C (p.Ile691Leu)
5g.177292032A>GCA362320441NSD1c.5464A>G (p.Ile1822Val)
c.979A>G (p.Ile327Val)
n.5920A>G
n.753A>G
c.6028A>G (p.Ile2010Val)
n.5734A>G
c.6337A>G (p.Ile2113Val)
c.5530A>G (p.Ile1844Val)
n.479A>G
c.1831A>G (p.Ile611Val)
c.5917A>G (p.Ile1973Val)
c.5281A>G (p.Ile1761Val)
c.2071A>G (p.Ile691Val)
5g.177292032A>TCA362320442NSD1c.5464A>T (p.Ile1822Phe)
c.979A>T (p.Ile327Phe)
n.5920A>T
n.753A>T
c.6028A>T (p.Ile2010Phe)
n.5734A>T
c.6337A>T (p.Ile2113Phe)
c.5530A>T (p.Ile1844Phe)
n.479A>T
c.1831A>T (p.Ile611Phe)
c.5917A>T (p.Ile1973Phe)
c.5281A>T (p.Ile1761Phe)
c.2071A>T (p.Ile691Phe)
5g.177292033T>ACA362320448NSD1c.5465T>A (p.Ile1822Asn)
c.980T>A (p.Ile327Asn)
n.5921T>A
n.754T>A
c.6029T>A (p.Ile2010Asn)
n.5735T>A
c.6338T>A (p.Ile2113Asn)
c.5531T>A (p.Ile1844Asn)
n.480T>A
c.1832T>A (p.Ile611Asn)
c.5918T>A (p.Ile1973Asn)
c.5282T>A (p.Ile1761Asn)
c.2072T>A (p.Ile691Asn)
 dbSNP
5g.177292033T>CCA362320450NSD1c.5465T>C (p.Ile1822Thr)
c.980T>C (p.Ile327Thr)
n.5921T>C
n.754T>C
c.6029T>C (p.Ile2010Thr)
n.5735T>C
c.6338T>C (p.Ile2113Thr)
c.5531T>C (p.Ile1844Thr)
n.480T>C
c.1832T>C (p.Ile611Thr)
c.5918T>C (p.Ile1973Thr)
c.5282T>C (p.Ile1761Thr)
c.2072T>C (p.Ile691Thr)
5g.177292033T>GCA362320452NSD1c.5465T>G (p.Ile1822Ser)
c.980T>G (p.Ile327Ser)
n.5921T>G
n.754T>G
c.6029T>G (p.Ile2010Ser)
n.5735T>G
c.6338T>G (p.Ile2113Ser)
c.5531T>G (p.Ile1844Ser)
n.480T>G
c.1832T>G (p.Ile611Ser)
c.5918T>G (p.Ile1973Ser)
c.5282T>G (p.Ile1761Ser)
c.2072T>G (p.Ile691Ser)
5g.177292034C>ACA447740729NSD1c.5466C>A (p.Ile1822=)
c.981C>A (p.Ile327=)
n.5922C>A
n.755C>A
c.6030C>A (p.Ile2010=)
n.5736C>A
c.6339C>A (p.Ile2113=)
c.5532C>A (p.Ile1844=)
n.481C>A
c.1833C>A (p.Ile611=)
c.5919C>A (p.Ile1973=)
c.5283C>A (p.Ile1761=)
c.2073C>A (p.Ile691=)
5g.177292034C>GCA362320455NSD1c.5466C>G (p.Ile1822Met)
c.981C>G (p.Ile327Met)
n.5922C>G
n.755C>G
c.6030C>G (p.Ile2010Met)
n.5736C>G
c.6339C>G (p.Ile2113Met)
c.5532C>G (p.Ile1844Met)
n.481C>G
c.1833C>G (p.Ile611Met)
c.5919C>G (p.Ile1973Met)
c.5283C>G (p.Ile1761Met)
c.2073C>G (p.Ile691Met)
 dbSNP
5g.177292034C>TCA447740730NSD1c.5466C>T (p.Ile1822=)
c.981C>T (p.Ile327=)
n.5922C>T
n.755C>T
c.6030C>T (p.Ile2010=)
n.5736C>T
c.6339C>T (p.Ile2113=)
c.5532C>T (p.Ile1844=)
n.481C>T
c.1833C>T (p.Ile611=)
c.5919C>T (p.Ile1973=)
c.5283C>T (p.Ile1761=)
c.2073C>T (p.Ile691=)
5g.177292035A>CCA362320458NSD1c.5467A>C (p.Thr1823Pro)
c.982A>C (p.Thr328Pro)
n.5923A>C
n.756A>C
c.6031A>C (p.Thr2011Pro)
n.5737A>C
c.6340A>C (p.Thr2114Pro)
c.5533A>C (p.Thr1845Pro)
n.482A>C
c.1834A>C (p.Thr612Pro)
c.5920A>C (p.Thr1974Pro)
c.5284A>C (p.Thr1762Pro)
c.2074A>C (p.Thr692Pro)
5g.177292035A>GCA362320461NSD1c.5467A>G (p.Thr1823Ala)
c.982A>G (p.Thr328Ala)
n.5923A>G
n.756A>G
c.6031A>G (p.Thr2011Ala)
n.5737A>G
c.6340A>G (p.Thr2114Ala)
c.5533A>G (p.Thr1845Ala)
n.482A>G
c.1834A>G (p.Thr612Ala)
c.5920A>G (p.Thr1974Ala)
c.5284A>G (p.Thr1762Ala)
c.2074A>G (p.Thr692Ala)
5g.177292035A>TCA362320463NSD1c.5467A>T (p.Thr1823Ser)
c.982A>T (p.Thr328Ser)
n.5923A>T
n.756A>T
c.6031A>T (p.Thr2011Ser)
n.5737A>T
c.6340A>T (p.Thr2114Ser)
c.5533A>T (p.Thr1845Ser)
n.482A>T
c.1834A>T (p.Thr612Ser)
c.5920A>T (p.Thr1974Ser)
c.5284A>T (p.Thr1762Ser)
c.2074A>T (p.Thr692Ser)
5g.177292036C>ACA362320466NSD1c.5468C>A (p.Thr1823Lys)
c.983C>A (p.Thr328Lys)
n.5924C>A
n.757C>A
c.6032C>A (p.Thr2011Lys)
n.5738C>A
c.6341C>A (p.Thr2114Lys)
c.5534C>A (p.Thr1845Lys)
n.483C>A
c.1835C>A (p.Thr612Lys)
c.5921C>A (p.Thr1974Lys)
c.5285C>A (p.Thr1762Lys)
c.2075C>A (p.Thr692Lys)
5g.177292036C=CA1603532807NSD1c.5468C= (p.Thr1823=)
c.983C= (p.Thr328=)
n.5924C=
n.757C=
c.6032C= (p.Thr2011=)
n.5738C=
c.6341C= (p.Thr2114=)
c.5534C= (p.Thr1845=)
n.483C=
c.1835C= (p.Thr612=)
c.5921C= (p.Thr1974=)
c.5285C= (p.Thr1762=)
c.2075C= (p.Thr692=)
5g.177292036C>GCA132861307NSD1c.5468C>G (p.Thr1823Arg)
c.983C>G (p.Thr328Arg)
n.5924C>G
n.757C>G
c.6032C>G (p.Thr2011Arg)
n.5738C>G
c.6341C>G (p.Thr2114Arg)
c.5534C>G (p.Thr1845Arg)
n.483C>G
c.1835C>G (p.Thr612Arg)
c.5921C>G (p.Thr1974Arg)
c.5285C>G (p.Thr1762Arg)
c.2075C>G (p.Thr692Arg)
 ClinVar dbSNP gnomAD v4
5g.177292036C>TCA362320468NSD1c.5468C>T (p.Thr1823Ile)
c.983C>T (p.Thr328Ile)
n.5924C>T
n.757C>T
c.6032C>T (p.Thr2011Ile)
n.5738C>T
c.6341C>T (p.Thr2114Ile)
c.5534C>T (p.Thr1845Ile)
n.483C>T
c.1835C>T (p.Thr612Ile)
c.5921C>T (p.Thr1974Ile)
c.5285C>T (p.Thr1762Ile)
c.2075C>T (p.Thr692Ile)
 gnomAD v4
5g.177292037A>CCA447740731NSD1c.5469A>C (p.Thr1823=)
c.984A>C (p.Thr328=)
n.5925A>C
n.758A>C
c.6033A>C (p.Thr2011=)
n.5739A>C
c.6342A>C (p.Thr2114=)
c.5535A>C (p.Thr1845=)
n.484A>C
c.1836A>C (p.Thr612=)
c.5922A>C (p.Thr1974=)
c.5286A>C (p.Thr1762=)
c.2076A>C (p.Thr692=)
5g.177292037A>GCA447740732NSD1c.5469A>G (p.Thr1823=)
c.984A>G (p.Thr328=)
n.5925A>G
n.758A>G
c.6033A>G (p.Thr2011=)
n.5739A>G
c.6342A>G (p.Thr2114=)
c.5535A>G (p.Thr1845=)
n.484A>G
c.1836A>G (p.Thr612=)
c.5922A>G (p.Thr1974=)
c.5286A>G (p.Thr1762=)
c.2076A>G (p.Thr692=)
 gnomAD v4
5g.177292037A>TCA447740733NSD1c.5469A>T (p.Thr1823=)
c.984A>T (p.Thr328=)
n.5925A>T
n.758A>T
c.6033A>T (p.Thr2011=)
n.5739A>T
c.6342A>T (p.Thr2114=)
c.5535A>T (p.Thr1845=)
n.484A>T
c.1836A>T (p.Thr612=)
c.5922A>T (p.Thr1974=)
c.5286A>T (p.Thr1762=)
c.2076A>T (p.Thr692=)
5g.177292039dupCA319729NSD1c.5471dup (p.Glu1825GlyfsTer5)
c.986dup (p.Glu330GlyfsTer5)
n.5927dup
n.760dup
c.6035dup (p.Glu2013GlyfsTer5)
n.5741dup
c.6344dup (p.Glu2116GlyfsTer5)
c.5537dup (p.Glu1847GlyfsTer5)
n.486dup
c.1838dup (p.Glu614GlyfsTer5)
c.5924dup (p.Glu1976GlyfsTer5)
c.5288dup (p.Glu1764GlyfsTer5)
c.2078dup (p.Glu694GlyfsTer5)
 ClinVar dbSNP
5g.177292038A>CCA362320476NSD1c.5470A>C (p.Lys1824Gln)
c.985A>C (p.Lys329Gln)
n.5926A>C
n.759A>C
c.6034A>C (p.Lys2012Gln)
n.5740A>C
c.6343A>C (p.Lys2115Gln)
c.5536A>C (p.Lys1846Gln)
n.485A>C
c.1837A>C (p.Lys613Gln)
c.5923A>C (p.Lys1975Gln)
c.5287A>C (p.Lys1763Gln)
c.2077A>C (p.Lys693Gln)
5g.177292038A>GCA362320474NSD1c.5470A>G (p.Lys1824Glu)
c.985A>G (p.Lys329Glu)
n.5926A>G
n.759A>G
c.6034A>G (p.Lys2012Glu)
n.5740A>G
c.6343A>G (p.Lys2115Glu)
c.5536A>G (p.Lys1846Glu)
n.485A>G
c.1837A>G (p.Lys613Glu)
c.5923A>G (p.Lys1975Glu)
c.5287A>G (p.Lys1763Glu)
c.2077A>G (p.Lys693Glu)
 gnomAD v4
5g.177292038A>TCA362320473NSD1c.5470A>T (p.Lys1824Ter)
c.985A>T (p.Lys329Ter)
n.5926A>T
n.759A>T
c.6034A>T (p.Lys2012Ter)
n.5740A>T
c.6343A>T (p.Lys2115Ter)
c.5536A>T (p.Lys1846Ter)
n.485A>T
c.1837A>T (p.Lys613Ter)
c.5923A>T (p.Lys1975Ter)
c.5287A>T (p.Lys1763Ter)
c.2077A>T (p.Lys693Ter)
5g.177292039A>CCA362320478NSD1c.5471A>C (p.Lys1824Thr)
c.986A>C (p.Lys329Thr)
n.5927A>C
n.760A>C
c.6035A>C (p.Lys2012Thr)
n.5741A>C
c.6344A>C (p.Lys2115Thr)
c.5537A>C (p.Lys1846Thr)
n.486A>C
c.1838A>C (p.Lys613Thr)
c.5924A>C (p.Lys1975Thr)
c.5288A>C (p.Lys1763Thr)
c.2078A>C (p.Lys693Thr)
5g.177292039A>GCA362320480NSD1c.5471A>G (p.Lys1824Arg)
c.986A>G (p.Lys329Arg)
n.5927A>G
n.760A>G
c.6035A>G (p.Lys2012Arg)
n.5741A>G
c.6344A>G (p.Lys2115Arg)
c.5537A>G (p.Lys1846Arg)
n.486A>G
c.1838A>G (p.Lys613Arg)
c.5924A>G (p.Lys1975Arg)
c.5288A>G (p.Lys1763Arg)
c.2078A>G (p.Lys693Arg)
5g.177292039A>TCA362320481NSD1c.5471A>T (p.Lys1824Met)
c.986A>T (p.Lys329Met)
n.5927A>T
n.760A>T
c.6035A>T (p.Lys2012Met)
n.5741A>T
c.6344A>T (p.Lys2115Met)
c.5537A>T (p.Lys1846Met)
n.486A>T
c.1838A>T (p.Lys613Met)
c.5924A>T (p.Lys1975Met)
c.5288A>T (p.Lys1763Met)
c.2078A>T (p.Lys693Met)
5g.177292040G>ACA447740735NSD1c.5472G>A (p.Lys1824=)
c.987G>A (p.Lys329=)
n.5928G>A
n.761G>A
c.6036G>A (p.Lys2012=)
n.5742G>A
c.6345G>A (p.Lys2115=)
c.5538G>A (p.Lys1846=)
n.487G>A
c.1839G>A (p.Lys613=)
c.5925G>A (p.Lys1975=)
c.5289G>A (p.Lys1763=)
c.2079G>A (p.Lys693=)
 dbSNP gnomAD v2 gnomAD v4
5g.177292040G>CCA362320484NSD1c.5472G>C (p.Lys1824Asn)
c.987G>C (p.Lys329Asn)
n.5928G>C
n.761G>C
c.6036G>C (p.Lys2012Asn)
n.5742G>C
c.6345G>C (p.Lys2115Asn)
c.5538G>C (p.Lys1846Asn)
n.487G>C
c.1839G>C (p.Lys613Asn)
c.5925G>C (p.Lys1975Asn)
c.5289G>C (p.Lys1763Asn)
c.2079G>C (p.Lys693Asn)
5g.177292040G=CA1603532813NSD1c.5472G= (p.Lys1824=)
c.987G= (p.Lys329=)
n.5928G=
n.761G=
c.6036G= (p.Lys2012=)
n.5742G=
c.6345G= (p.Lys2115=)
c.5538G= (p.Lys1846=)
n.487G=
c.1839G= (p.Lys613=)
c.5925G= (p.Lys1975=)
c.5289G= (p.Lys1763=)
c.2079G= (p.Lys693=)
5g.177292040G>TCA362320485NSD1c.5472G>T (p.Lys1824Asn)
c.987G>T (p.Lys329Asn)
n.5928G>T
n.761G>T
c.6036G>T (p.Lys2012Asn)
n.5742G>T
c.6345G>T (p.Lys2115Asn)
c.5538G>T (p.Lys1846Asn)
n.487G>T
c.1839G>T (p.Lys613Asn)
c.5925G>T (p.Lys1975Asn)
c.5289G>T (p.Lys1763Asn)
c.2079G>T (p.Lys693Asn)
5g.177292041G>ACA362320487NSD1c.5473G>A (p.Glu1825Lys)
c.988G>A (p.Glu330Lys)
n.5929G>A
n.762G>A
c.6037G>A (p.Glu2013Lys)
n.5743G>A
c.6346G>A (p.Glu2116Lys)
c.5539G>A (p.Glu1847Lys)
n.488G>A
c.1840G>A (p.Glu614Lys)
c.5926G>A (p.Glu1976Lys)
c.5290G>A (p.Glu1764Lys)
c.2080G>A (p.Glu694Lys)
5g.177292041G>CCA362320489NSD1c.5473G>C (p.Glu1825Gln)
c.988G>C (p.Glu330Gln)
n.5929G>C
n.762G>C
c.6037G>C (p.Glu2013Gln)
n.5743G>C
c.6346G>C (p.Glu2116Gln)
c.5539G>C (p.Glu1847Gln)
n.488G>C
c.1840G>C (p.Glu614Gln)
c.5926G>C (p.Glu1976Gln)
c.5290G>C (p.Glu1764Gln)
c.2080G>C (p.Glu694Gln)
5g.177292041G>TCA362320491NSD1c.5473G>T (p.Glu1825Ter)
c.988G>T (p.Glu330Ter)
n.5929G>T
n.762G>T
c.6037G>T (p.Glu2013Ter)
n.5743G>T
c.6346G>T (p.Glu2116Ter)
c.5539G>T (p.Glu1847Ter)
n.488G>T
c.1840G>T (p.Glu614Ter)
c.5926G>T (p.Glu1976Ter)
c.5290G>T (p.Glu1764Ter)
c.2080G>T (p.Glu694Ter)
5g.177292042A>CCA362320494NSD1c.5474A>C (p.Glu1825Ala)
c.989A>C (p.Glu330Ala)
n.5930A>C
n.763A>C
c.6038A>C (p.Glu2013Ala)
n.5744A>C
c.6347A>C (p.Glu2116Ala)
c.5540A>C (p.Glu1847Ala)
n.489A>C
c.1841A>C (p.Glu614Ala)
c.5927A>C (p.Glu1976Ala)
c.5291A>C (p.Glu1764Ala)
c.2081A>C (p.Glu694Ala)
5g.177292042A>GCA362320496NSD1c.5474A>G (p.Glu1825Gly)
c.989A>G (p.Glu330Gly)
n.5930A>G
n.763A>G
c.6038A>G (p.Glu2013Gly)
n.5744A>G
c.6347A>G (p.Glu2116Gly)
c.5540A>G (p.Glu1847Gly)
n.489A>G
c.1841A>G (p.Glu614Gly)
c.5927A>G (p.Glu1976Gly)
c.5291A>G (p.Glu1764Gly)
c.2081A>G (p.Glu694Gly)
 gnomAD v4
5g.177292042A>TCA362320497NSD1c.5474A>T (p.Glu1825Val)
c.989A>T (p.Glu330Val)
n.5930A>T
n.763A>T
c.6038A>T (p.Glu2013Val)
n.5744A>T
c.6347A>T (p.Glu2116Val)
c.5540A>T (p.Glu1847Val)
n.489A>T
c.1841A>T (p.Glu614Val)
c.5927A>T (p.Glu1976Val)
c.5291A>T (p.Glu1764Val)
c.2081A>T (p.Glu694Val)
5g.177292043G>ACA447740736NSD1c.5475G>A (p.Glu1825=)
c.990G>A (p.Glu330=)
n.5931G>A
n.764G>A
c.6039G>A (p.Glu2013=)
n.5745G>A
c.6348G>A (p.Glu2116=)
c.5541G>A (p.Glu1847=)
n.490G>A
c.1842G>A (p.Glu614=)
c.5928G>A (p.Glu1976=)
c.5292G>A (p.Glu1764=)
c.2082G>A (p.Glu694=)
5g.177292043G>CCA362320499NSD1c.5475G>C (p.Glu1825Asp)
c.990G>C (p.Glu330Asp)
n.5931G>C
n.764G>C
c.6039G>C (p.Glu2013Asp)
n.5745G>C
c.6348G>C (p.Glu2116Asp)
c.5541G>C (p.Glu1847Asp)
n.490G>C
c.1842G>C (p.Glu614Asp)
c.5928G>C (p.Glu1976Asp)
c.5292G>C (p.Glu1764Asp)
c.2082G>C (p.Glu694Asp)
5g.177292043G>TCA362320501NSD1c.5475G>T (p.Glu1825Asp)
c.990G>T (p.Glu330Asp)
n.5931G>T
n.764G>T
c.6039G>T (p.Glu2013Asp)
n.5745G>T
c.6348G>T (p.Glu2116Asp)
c.5541G>T (p.Glu1847Asp)
n.490G>T
c.1842G>T (p.Glu614Asp)
c.5928G>T (p.Glu1976Asp)
c.5292G>T (p.Glu1764Asp)
c.2082G>T (p.Glu694Asp)
 gnomAD v4
5g.177292044C>ACA447740737NSD1c.5476C>A (p.Arg1826=)
c.991C>A (p.Arg331=)
n.5932C>A
n.765C>A
c.6040C>A (p.Arg2014=)
n.5746C>A
c.6349C>A (p.Arg2117=)
c.5542C>A (p.Arg1848=)
n.491C>A
c.1843C>A (p.Arg615=)
c.5929C>A (p.Arg1977=)
c.5293C>A (p.Arg1765=)
c.2083C>A (p.Arg695=)
 dbSNP gnomAD v4
5g.177292044C=CA1603532819NSD1c.5476C= (p.Arg1826=)
c.991C= (p.Arg331=)
n.5932C=
n.765C=
c.6040C= (p.Arg2014=)
n.5746C=
c.6349C= (p.Arg2117=)
c.5542C= (p.Arg1848=)
n.491C=
c.1843C= (p.Arg615=)
c.5929C= (p.Arg1977=)
c.5293C= (p.Arg1765=)
c.2083C= (p.Arg695=)
5g.177292044C>GCA362320503NSD1c.5476C>G (p.Arg1826Gly)
c.991C>G (p.Arg331Gly)
n.5932C>G
n.765C>G
c.6040C>G (p.Arg2014Gly)
n.5746C>G
c.6349C>G (p.Arg2117Gly)
c.5542C>G (p.Arg1848Gly)
n.491C>G
c.1843C>G (p.Arg615Gly)
c.5929C>G (p.Arg1977Gly)
c.5293C>G (p.Arg1765Gly)
c.2083C>G (p.Arg695Gly)
 dbSNP
5g.177292044C>TCA295059NSD1c.5476C>T (p.Arg1826Ter)
c.991C>T (p.Arg331Ter)
n.5932C>T
n.765C>T
c.6040C>T (p.Arg2014Ter)
n.5746C>T
c.6349C>T (p.Arg2117Ter)
c.5542C>T (p.Arg1848Ter)
n.491C>T
c.1843C>T (p.Arg615Ter)
c.5929C>T (p.Arg1977Ter)
c.5293C>T (p.Arg1765Ter)
c.2083C>T (p.Arg695Ter)
 ClinVar dbSNP
5g.177292045G>ACA3577979NSD1c.5477G>A (p.Arg1826Gln)
c.992G>A (p.Arg331Gln)
n.5933G>A
n.766G>A
c.6041G>A (p.Arg2014Gln)
n.5747G>A
c.6350G>A (p.Arg2117Gln)
c.5543G>A (p.Arg1848Gln)
n.492G>A
c.1844G>A (p.Arg615Gln)
c.5930G>A (p.Arg1977Gln)
c.5294G>A (p.Arg1765Gln)
c.2084G>A (p.Arg695Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.177292045G>CCA362320507NSD1c.5477G>C (p.Arg1826Pro)
c.992G>C (p.Arg331Pro)
n.5933G>C
n.766G>C
c.6041G>C (p.Arg2014Pro)
n.5747G>C
c.6350G>C (p.Arg2117Pro)
c.5543G>C (p.Arg1848Pro)
n.492G>C
c.1844G>C (p.Arg615Pro)
c.5930G>C (p.Arg1977Pro)
c.5294G>C (p.Arg1765Pro)
c.2084G>C (p.Arg695Pro)
5g.177292045G=CA1603532827NSD1c.5477G= (p.Arg1826=)
c.992G= (p.Arg331=)
n.5933G=
n.766G=
c.6041G= (p.Arg2014=)
n.5747G=
c.6350G= (p.Arg2117=)
c.5543G= (p.Arg1848=)
n.492G=
c.1844G= (p.Arg615=)
c.5930G= (p.Arg1977=)
c.5294G= (p.Arg1765=)
c.2084G= (p.Arg695=)
5g.177292045G>TCA362320508NSD1c.5477G>T (p.Arg1826Leu)
c.992G>T (p.Arg331Leu)
n.5933G>T
n.766G>T
c.6041G>T (p.Arg2014Leu)
n.5747G>T
c.6350G>T (p.Arg2117Leu)
c.5543G>T (p.Arg1848Leu)
n.492G>T
c.1844G>T (p.Arg615Leu)
c.5930G>T (p.Arg1977Leu)
c.5294G>T (p.Arg1765Leu)
c.2084G>T (p.Arg695Leu)
5g.177292046A>CCA447740738NSD1c.5478A>C (p.Arg1826=)
c.993A>C (p.Arg331=)
n.5934A>C
n.767A>C
c.6042A>C (p.Arg2014=)
n.5748A>C
c.6351A>C (p.Arg2117=)
c.5544A>C (p.Arg1848=)
n.493A>C
c.1845A>C (p.Arg615=)
c.5931A>C (p.Arg1977=)
c.5295A>C (p.Arg1765=)
c.2085A>C (p.Arg695=)
5g.177292046A>GCA447740739NSD1c.5478A>G (p.Arg1826=)
c.993A>G (p.Arg331=)
n.5934A>G
n.767A>G
c.6042A>G (p.Arg2014=)
n.5748A>G
c.6351A>G (p.Arg2117=)
c.5544A>G (p.Arg1848=)
n.493A>G
c.1845A>G (p.Arg615=)
c.5931A>G (p.Arg1977=)
c.5295A>G (p.Arg1765=)
c.2085A>G (p.Arg695=)
 gnomAD v4
5g.177292046A>TCA447740740NSD1c.5478A>T (p.Arg1826=)
c.993A>T (p.Arg331=)
n.5934A>T
n.767A>T
c.6042A>T (p.Arg2014=)
n.5748A>T
c.6351A>T (p.Arg2117=)
c.5544A>T (p.Arg1848=)
n.493A>T
c.1845A>T (p.Arg615=)
c.5931A>T (p.Arg1977=)
c.5295A>T (p.Arg1765=)
c.2085A>T (p.Arg695=)
5g.177292049_177292051delCA891862600NSD1c.5481_5483del (p.Glu1827del)
c.996_998del (p.Glu332del)
n.5937_5939del
n.770_772del
c.6045_6047del (p.Glu2015del)
n.5751_5753del
c.6354_6356del (p.Glu2118del)
c.5547_5549del (p.Glu1849del)
n.496_498del
c.1848_1850del (p.Glu616del)
c.5934_5936del (p.Glu1978del)
c.5298_5300del (p.Glu1766del)
c.2088_2090del (p.Glu696del)
5g.177292047G>ACA362320512NSD1c.5479G>A (p.Glu1827Lys)
c.994G>A (p.Glu332Lys)
n.5935G>A
n.768G>A
c.6043G>A (p.Glu2015Lys)
n.5749G>A
c.6352G>A (p.Glu2118Lys)
c.5545G>A (p.Glu1849Lys)
n.494G>A
c.1846G>A (p.Glu616Lys)
c.5932G>A (p.Glu1978Lys)
c.5296G>A (p.Glu1766Lys)
c.2086G>A (p.Glu696Lys)
5g.177292047G>CCA362320513NSD1c.5479G>C (p.Glu1827Gln)
c.994G>C (p.Glu332Gln)
n.5935G>C
n.768G>C
c.6043G>C (p.Glu2015Gln)
n.5749G>C
c.6352G>C (p.Glu2118Gln)
c.5545G>C (p.Glu1849Gln)
n.494G>C
c.1846G>C (p.Glu616Gln)
c.5932G>C (p.Glu1978Gln)
c.5296G>C (p.Glu1766Gln)
c.2086G>C (p.Glu696Gln)
5g.177292047G>TCA362320515NSD1c.5479G>T (p.Glu1827Ter)
c.994G>T (p.Glu332Ter)
n.5935G>T
n.768G>T
c.6043G>T (p.Glu2015Ter)
n.5749G>T
c.6352G>T (p.Glu2118Ter)
c.5545G>T (p.Glu1849Ter)
n.494G>T
c.1846G>T (p.Glu616Ter)
c.5932G>T (p.Glu1978Ter)
c.5296G>T (p.Glu1766Ter)
c.2086G>T (p.Glu696Ter)
5g.177292048A>CCA362320517NSD1c.5480A>C (p.Glu1827Ala)
c.995A>C (p.Glu332Ala)
n.5936A>C
n.769A>C
c.6044A>C (p.Glu2015Ala)
n.5750A>C
c.6353A>C (p.Glu2118Ala)
c.5546A>C (p.Glu1849Ala)
n.495A>C
c.1847A>C (p.Glu616Ala)
c.5933A>C (p.Glu1978Ala)
c.5297A>C (p.Glu1766Ala)
c.2087A>C (p.Glu696Ala)
5g.177292048A>GCA362320518NSD1c.5480A>G (p.Glu1827Gly)
c.995A>G (p.Glu332Gly)
n.5936A>G
n.769A>G
c.6044A>G (p.Glu2015Gly)
n.5750A>G
c.6353A>G (p.Glu2118Gly)
c.5546A>G (p.Glu1849Gly)
n.495A>G
c.1847A>G (p.Glu616Gly)
c.5933A>G (p.Glu1978Gly)
c.5297A>G (p.Glu1766Gly)
c.2087A>G (p.Glu696Gly)
5g.177292048A>TCA362320519NSD1c.5480A>T (p.Glu1827Val)
c.995A>T (p.Glu332Val)
n.5936A>T
n.769A>T
c.6044A>T (p.Glu2015Val)
n.5750A>T
c.6353A>T (p.Glu2118Val)
c.5546A>T (p.Glu1849Val)
n.495A>T
c.1847A>T (p.Glu616Val)
c.5933A>T (p.Glu1978Val)
c.5297A>T (p.Glu1766Val)
c.2087A>T (p.Glu696Val)
5g.177292049A>CCA362320520NSD1c.5481A>C (p.Glu1827Asp)
c.996A>C (p.Glu332Asp)
n.5937A>C
n.770A>C
c.6045A>C (p.Glu2015Asp)
n.5751A>C
c.6354A>C (p.Glu2118Asp)
c.5547A>C (p.Glu1849Asp)
n.496A>C
c.1848A>C (p.Glu616Asp)
c.5934A>C (p.Glu1978Asp)
c.5298A>C (p.Glu1766Asp)
c.2088A>C (p.Glu696Asp)
5g.177292049A>GCA447740741NSD1c.5481A>G (p.Glu1827=)
c.996A>G (p.Glu332=)
n.5937A>G
n.770A>G
c.6045A>G (p.Glu2015=)
n.5751A>G
c.6354A>G (p.Glu2118=)
c.5547A>G (p.Glu1849=)
n.496A>G
c.1848A>G (p.Glu616=)
c.5934A>G (p.Glu1978=)
c.5298A>G (p.Glu1766=)
c.2088A>G (p.Glu696=)
5g.177292049A>TCA362320521NSD1c.5481A>T (p.Glu1827Asp)
c.996A>T (p.Glu332Asp)
n.5937A>T
n.770A>T
c.6045A>T (p.Glu2015Asp)
n.5751A>T
c.6354A>T (p.Glu2118Asp)
c.5547A>T (p.Glu1849Asp)
n.496A>T
c.1848A>T (p.Glu616Asp)
c.5934A>T (p.Glu1978Asp)
c.5298A>T (p.Glu1766Asp)
c.2088A>T (p.Glu696Asp)
5g.177292050G>ACA362320524NSD1c.5482G>A (p.Asp1828Asn)
c.997G>A (p.Asp333Asn)
n.5938G>A
n.771G>A
c.6046G>A (p.Asp2016Asn)
n.5752G>A
c.6355G>A (p.Asp2119Asn)
c.5548G>A (p.Asp1850Asn)
n.497G>A
c.1849G>A (p.Asp617Asn)
c.5935G>A (p.Asp1979Asn)
c.5299G>A (p.Asp1767Asn)
c.2089G>A (p.Asp697Asn)
 ClinVar dbSNP gnomAD v4
5g.177292050G>CCA362320526NSD1c.5482G>C (p.Asp1828His)
c.997G>C (p.Asp333His)
n.5938G>C
n.771G>C
c.6046G>C (p.Asp2016His)
n.5752G>C
c.6355G>C (p.Asp2119His)
c.5548G>C (p.Asp1850His)
n.497G>C
c.1849G>C (p.Asp617His)
c.5935G>C (p.Asp1979His)
c.5299G>C (p.Asp1767His)
c.2089G>C (p.Asp697His)
5g.177292050G=CA1603532830NSD1c.5482G= (p.Asp1828=)
c.997G= (p.Asp333=)
n.5938G=
n.771G=
c.6046G= (p.Asp2016=)
n.5752G=
c.6355G= (p.Asp2119=)
c.5548G= (p.Asp1850=)
n.497G=
c.1849G= (p.Asp617=)
c.5935G= (p.Asp1979=)
c.5299G= (p.Asp1767=)
c.2089G= (p.Asp697=)
5g.177292050G>TCA362320523NSD1c.5482G>T (p.Asp1828Tyr)
c.997G>T (p.Asp333Tyr)
n.5938G>T
n.771G>T
c.6046G>T (p.Asp2016Tyr)
n.5752G>T
c.6355G>T (p.Asp2119Tyr)
c.5548G>T (p.Asp1850Tyr)
n.497G>T
c.1849G>T (p.Asp617Tyr)
c.5935G>T (p.Asp1979Tyr)
c.5299G>T (p.Asp1767Tyr)
c.2089G>T (p.Asp697Tyr)
 dbSNP
5g.177292051delCA2695205736NSD1c.5483del (p.Asp1828ValfsTer?)
c.998del (p.Asp333ValfsTer?)
n.5939del
n.772del
c.6047del (p.Asp2016ValfsTer?)
n.5753del
c.6356del (p.Asp2119ValfsTer?)
c.5549del (p.Asp1850ValfsTer?)
n.498del
c.1850del (p.Asp617ValfsTer?)
c.5936del (p.Asp1979ValfsTer?)
c.5300del (p.Asp1767ValfsTer?)
c.2090del (p.Asp697ValfsTer?)
5g.177292051A=CA1603532836NSD1c.5483A= (p.Asp1828=)
c.998A= (p.Asp333=)
n.5939A=
n.772A=
c.6047A= (p.Asp2016=)
n.5753A=
c.6356A= (p.Asp2119=)
c.5549A= (p.Asp1850=)
n.498A=
c.1850A= (p.Asp617=)
c.5936A= (p.Asp1979=)
c.5300A= (p.Asp1767=)
c.2090A= (p.Asp697=)
5g.177292051A>CCA362320530NSD1c.5483A>C (p.Asp1828Ala)
c.998A>C (p.Asp333Ala)
n.5939A>C
n.772A>C
c.6047A>C (p.Asp2016Ala)
n.5753A>C
c.6356A>C (p.Asp2119Ala)
c.5549A>C (p.Asp1850Ala)
n.498A>C
c.1850A>C (p.Asp617Ala)
c.5936A>C (p.Asp1979Ala)
c.5300A>C (p.Asp1767Ala)
c.2090A>C (p.Asp697Ala)
5g.177292051A>GCA295062NSD1c.5483A>G (p.Asp1828Gly)
c.998A>G (p.Asp333Gly)
n.5939A>G
n.772A>G
c.6047A>G (p.Asp2016Gly)
n.5753A>G
c.6356A>G (p.Asp2119Gly)
c.5549A>G (p.Asp1850Gly)
n.498A>G
c.1850A>G (p.Asp617Gly)
c.5936A>G (p.Asp1979Gly)
c.5300A>G (p.Asp1767Gly)
c.2090A>G (p.Asp697Gly)
 ClinVar dbSNP
5g.177292051A>TCA362320529NSD1c.5483A>T (p.Asp1828Val)
c.998A>T (p.Asp333Val)
n.5939A>T
n.772A>T
c.6047A>T (p.Asp2016Val)
n.5753A>T
c.6356A>T (p.Asp2119Val)
c.5549A>T (p.Asp1850Val)
n.498A>T
c.1850A>T (p.Asp617Val)
c.5936A>T (p.Asp1979Val)
c.5300A>T (p.Asp1767Val)
c.2090A>T (p.Asp697Val)
5g.177292052T>ACA362320531NSD1c.5484T>A (p.Asp1828Glu)
c.999T>A (p.Asp333Glu)
n.5940T>A
n.773T>A
c.6048T>A (p.Asp2016Glu)
n.5754T>A
c.6357T>A (p.Asp2119Glu)
c.5550T>A (p.Asp1850Glu)
n.499T>A
c.1851T>A (p.Asp617Glu)
c.5937T>A (p.Asp1979Glu)
c.5301T>A (p.Asp1767Glu)
c.2091T>A (p.Asp697Glu)
5g.177292052T>CCA447740742NSD1c.5484T>C (p.Asp1828=)
c.999T>C (p.Asp333=)
n.5940T>C
n.773T>C
c.6048T>C (p.Asp2016=)
n.5754T>C
c.6357T>C (p.Asp2119=)
c.5550T>C (p.Asp1850=)
n.499T>C
c.1851T>C (p.Asp617=)
c.5937T>C (p.Asp1979=)
c.5301T>C (p.Asp1767=)
c.2091T>C (p.Asp697=)
5g.177292052T>GCA362320533NSD1c.5484T>G (p.Asp1828Glu)
c.999T>G (p.Asp333Glu)
n.5940T>G
n.773T>G
c.6048T>G (p.Asp2016Glu)
n.5754T>G
c.6357T>G (p.Asp2119Glu)
c.5550T>G (p.Asp1850Glu)
n.499T>G
c.1851T>G (p.Asp617Glu)
c.5937T>G (p.Asp1979Glu)
c.5301T>G (p.Asp1767Glu)
c.2091T>G (p.Asp697Glu)
 gnomAD v4
5g.177292053G>ACA362320535NSD1c.5485G>A (p.Glu1829Lys)
c.1000G>A (p.Glu334Lys)
n.5941G>A
n.774G>A
c.6049G>A (p.Glu2017Lys)
n.5755G>A
c.6358G>A (p.Glu2120Lys)
c.5551G>A (p.Glu1851Lys)
n.500G>A
c.1852G>A (p.Glu618Lys)
c.5938G>A (p.Glu1980Lys)
c.5302G>A (p.Glu1768Lys)
c.2092G>A (p.Glu698Lys)
 dbSNP
5g.177292053G>CCA362320536NSD1c.5485G>C (p.Glu1829Gln)
c.1000G>C (p.Glu334Gln)
n.5941G>C
n.774G>C
c.6049G>C (p.Glu2017Gln)
n.5755G>C
c.6358G>C (p.Glu2120Gln)
c.5551G>C (p.Glu1851Gln)
n.500G>C
c.1852G>C (p.Glu618Gln)
c.5938G>C (p.Glu1980Gln)
c.5302G>C (p.Glu1768Gln)
c.2092G>C (p.Glu698Gln)
5g.177292053G=CA1603532841NSD1c.5485G= (p.Glu1829=)
c.1000G= (p.Glu334=)
n.5941G=
n.774G=
c.6049G= (p.Glu2017=)
n.5755G=
c.6358G= (p.Glu2120=)
c.5551G= (p.Glu1851=)
n.500G=
c.1852G= (p.Glu618=)
c.5938G= (p.Glu1980=)
c.5302G= (p.Glu1768=)
c.2092G= (p.Glu698=)
5g.177292053G>TCA362320538NSD1c.5485G>T (p.Glu1829Ter)
c.1000G>T (p.Glu334Ter)
n.5941G>T
n.774G>T
c.6049G>T (p.Glu2017Ter)
n.5755G>T
c.6358G>T (p.Glu2120Ter)
c.5551G>T (p.Glu1851Ter)
n.500G>T
c.1852G>T (p.Glu618Ter)
c.5938G>T (p.Glu1980Ter)
c.5302G>T (p.Glu1768Ter)
c.2092G>T (p.Glu698Ter)
 ClinVar dbSNP
5g.177292054A>CCA362320540NSD1c.5486A>C (p.Glu1829Ala)
c.1001A>C (p.Glu334Ala)
n.5942A>C
n.775A>C
c.6050A>C (p.Glu2017Ala)
n.5756A>C
c.6359A>C (p.Glu2120Ala)
c.5552A>C (p.Glu1851Ala)
n.501A>C
c.1853A>C (p.Glu618Ala)
c.5939A>C (p.Glu1980Ala)
c.5303A>C (p.Glu1768Ala)
c.2093A>C (p.Glu698Ala)
5g.177292054A>GCA362320542NSD1c.5486A>G (p.Glu1829Gly)
c.1001A>G (p.Glu334Gly)
n.5942A>G
n.775A>G
c.6050A>G (p.Glu2017Gly)
n.5756A>G
c.6359A>G (p.Glu2120Gly)
c.5552A>G (p.Glu1851Gly)
n.501A>G
c.1853A>G (p.Glu618Gly)
c.5939A>G (p.Glu1980Gly)
c.5303A>G (p.Glu1768Gly)
c.2093A>G (p.Glu698Gly)
5g.177292054A>TCA362320543NSD1c.5486A>T (p.Glu1829Val)
c.1001A>T (p.Glu334Val)
n.5942A>T
n.775A>T
c.6050A>T (p.Glu2017Val)
n.5756A>T
c.6359A>T (p.Glu2120Val)
c.5552A>T (p.Glu1851Val)
n.501A>T
c.1853A>T (p.Glu618Val)
c.5939A>T (p.Glu1980Val)
c.5303A>T (p.Glu1768Val)
c.2093A>T (p.Glu698Val)
5g.177292055G>ACA447740743NSD1c.5487G>A (p.Glu1829=)
c.1002G>A (p.Glu334=)
n.5943G>A
n.776G>A
c.6051G>A (p.Glu2017=)
n.5757G>A
c.6360G>A (p.Glu2120=)
c.5553G>A (p.Glu1851=)
n.502G>A
c.1854G>A (p.Glu618=)
c.5940G>A (p.Glu1980=)
c.5304G>A (p.Glu1768=)
c.2094G>A (p.Glu698=)
 gnomAD v4
5g.177292055G>CCA362320546NSD1c.5487G>C (p.Glu1829Asp)
c.1002G>C (p.Glu334Asp)
n.5943G>C
n.776G>C
c.6051G>C (p.Glu2017Asp)
n.5757G>C
c.6360G>C (p.Glu2120Asp)
c.5553G>C (p.Glu1851Asp)
n.502G>C
c.1854G>C (p.Glu618Asp)
c.5940G>C (p.Glu1980Asp)
c.5304G>C (p.Glu1768Asp)
c.2094G>C (p.Glu698Asp)
5g.177292055G>TCA362320548NSD1c.5487G>T (p.Glu1829Asp)
c.1002G>T (p.Glu334Asp)
n.5943G>T
n.776G>T
c.6051G>T (p.Glu2017Asp)
n.5757G>T
c.6360G>T (p.Glu2120Asp)
c.5553G>T (p.Glu1851Asp)
n.502G>T
c.1854G>T (p.Glu618Asp)
c.5940G>T (p.Glu1980Asp)
c.5304G>T (p.Glu1768Asp)
c.2094G>T (p.Glu698Asp)
5g.177292056T>ACA362320556NSD1c.5488T>A (p.Cys1830Ser)
c.1003T>A (p.Cys335Ser)
n.5944T>A
n.777T>A
c.6052T>A (p.Cys2018Ser)
n.5758T>A
c.6361T>A (p.Cys2121Ser)
c.5554T>A (p.Cys1852Ser)
n.503T>A
c.1855T>A (p.Cys619Ser)
c.5941T>A (p.Cys1981Ser)
c.5305T>A (p.Cys1769Ser)
c.2095T>A (p.Cys699Ser)
5g.177292056T>CCA362320554NSD1c.5488T>C (p.Cys1830Arg)
c.1003T>C (p.Cys335Arg)
n.5944T>C
n.777T>C
c.6052T>C (p.Cys2018Arg)
n.5758T>C
c.6361T>C (p.Cys2121Arg)
c.5554T>C (p.Cys1852Arg)
n.503T>C
c.1855T>C (p.Cys619Arg)
c.5941T>C (p.Cys1981Arg)
c.5305T>C (p.Cys1769Arg)
c.2095T>C (p.Cys699Arg)
5g.177292056T>GCA362320553NSD1c.5488T>G (p.Cys1830Gly)
c.1003T>G (p.Cys335Gly)
n.5944T>G
n.777T>G
c.6052T>G (p.Cys2018Gly)
n.5758T>G
c.6361T>G (p.Cys2121Gly)
c.5554T>G (p.Cys1852Gly)
n.503T>G
c.1855T>G (p.Cys619Gly)
c.5941T>G (p.Cys1981Gly)
c.5305T>G (p.Cys1769Gly)
c.2095T>G (p.Cys699Gly)
5g.177292057G>ACA362320559NSD1c.5489G>A (p.Cys1830Tyr)
c.1004G>A (p.Cys335Tyr)
n.5945G>A
n.778G>A
c.6053G>A (p.Cys2018Tyr)
n.5759G>A
c.6362G>A (p.Cys2121Tyr)
c.5555G>A (p.Cys1852Tyr)
n.504G>A
c.1856G>A (p.Cys619Tyr)
c.5942G>A (p.Cys1981Tyr)
c.5306G>A (p.Cys1769Tyr)
c.2096G>A (p.Cys699Tyr)
 dbSNP
5g.177292057G>CCA362320562NSD1c.5489G>C (p.Cys1830Ser)
c.1004G>C (p.Cys335Ser)
n.5945G>C
n.778G>C
c.6053G>C (p.Cys2018Ser)
n.5759G>C
c.6362G>C (p.Cys2121Ser)
c.5555G>C (p.Cys1852Ser)
n.504G>C
c.1856G>C (p.Cys619Ser)
c.5942G>C (p.Cys1981Ser)
c.5306G>C (p.Cys1769Ser)
c.2096G>C (p.Cys699Ser)
5g.177292057G>TCA362320564NSD1c.5489G>T (p.Cys1830Phe)
c.1004G>T (p.Cys335Phe)
n.5945G>T
n.778G>T
c.6053G>T (p.Cys2018Phe)
n.5759G>T
c.6362G>T (p.Cys2121Phe)
c.5555G>T (p.Cys1852Phe)
n.504G>T
c.1856G>T (p.Cys619Phe)
c.5942G>T (p.Cys1981Phe)
c.5306G>T (p.Cys1769Phe)
c.2096G>T (p.Cys699Phe)
5g.177292057_177292058delinsGTCA1603532847NSD1c.5489_5490delinsGT (p.Cys1830=)
c.1004_1005delinsGT (p.Cys335=)
n.5945_5946delinsGT
n.778_779delinsGT
c.6053_6054delinsGT (p.Cys2018=)
n.5759_5760delinsGT
c.6362_6363delinsGT (p.Cys2121=)
c.5555_5556delinsGT (p.Cys1852=)
n.504_505delinsGT
c.1856_1857delinsGT (p.Cys619=)
c.5942_5943delinsGT (p.Cys1981=)
c.5306_5307delinsGT (p.Cys1769=)
c.2096_2097delinsGT (p.Cys699=)
5g.177292058T>ACA362320570NSD1c.5490T>A (p.Cys1830Ter)
c.1005T>A (p.Cys335Ter)
n.5946T>A
n.779T>A
c.6054T>A (p.Cys2018Ter)
n.5760T>A
c.6363T>A (p.Cys2121Ter)
c.5556T>A (p.Cys1852Ter)
n.505T>A
c.1857T>A (p.Cys619Ter)
c.5943T>A (p.Cys1981Ter)
c.5307T>A (p.Cys1769Ter)
c.2097T>A (p.Cys699Ter)
5g.177292058T>CCA447740744NSD1c.5490T>C (p.Cys1830=)
c.1005T>C (p.Cys335=)
n.5946T>C
n.779T>C
c.6054T>C (p.Cys2018=)
n.5760T>C
c.6363T>C (p.Cys2121=)
c.5556T>C (p.Cys1852=)
n.505T>C
c.1857T>C (p.Cys619=)
c.5943T>C (p.Cys1981=)
c.5307T>C (p.Cys1769=)
c.2097T>C (p.Cys699=)
5g.177292058T>GCA362320573NSD1c.5490T>G (p.Cys1830Trp)
c.1005T>G (p.Cys335Trp)
n.5946T>G
n.779T>G
c.6054T>G (p.Cys2018Trp)
n.5760T>G
c.6363T>G (p.Cys2121Trp)
c.5556T>G (p.Cys1852Trp)
n.505T>G
c.1857T>G (p.Cys619Trp)
c.5943T>G (p.Cys1981Trp)
c.5307T>G (p.Cys1769Trp)
c.2097T>G (p.Cys699Trp)
5g.177292061delCA295065NSD1c.5493del (p.Phe1831LeufsTer28)
c.1008del (p.Phe336LeufsTer28)
n.5949del
n.782del
c.6057del (p.Phe2019LeufsTer28)
n.5763del
c.6366del (p.Phe2122LeufsTer28)
c.5559del (p.Phe1853LeufsTer28)
n.508del
c.1860del (p.Phe620LeufsTer28)
c.5946del (p.Phe1982LeufsTer28)
c.5310del (p.Phe1770LeufsTer28)
c.2100del (p.Phe700LeufsTer28)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.177292059_177292061delCA2695205737NSD1c.5491_5493del (p.Phe1831del)
c.1006_1008del (p.Phe336del)
n.5947_5949del
n.780_782del
c.6055_6057del (p.Phe2019del)
n.5761_5763del
c.6364_6366del (p.Phe2122del)
c.5557_5559del (p.Phe1853del)
n.506_508del
c.1858_1860del (p.Phe620del)
c.5944_5946del (p.Phe1982del)
c.5308_5310del (p.Phe1770del)
c.2098_2100del (p.Phe700del)
5g.177292059T>ACA362320580NSD1c.5491T>A (p.Phe1831Ile)
c.1006T>A (p.Phe336Ile)
n.5947T>A
n.780T>A
c.6055T>A (p.Phe2019Ile)
n.5761T>A
c.6364T>A (p.Phe2122Ile)
c.5557T>A (p.Phe1853Ile)
n.506T>A
c.1858T>A (p.Phe620Ile)
c.5944T>A (p.Phe1982Ile)
c.5308T>A (p.Phe1770Ile)
c.2098T>A (p.Phe700Ile)
5g.177292059T>CCA362320583NSD1c.5491T>C (p.Phe1831Leu)
c.1006T>C (p.Phe336Leu)
n.5947T>C
n.780T>C
c.6055T>C (p.Phe2019Leu)
n.5761T>C
c.6364T>C (p.Phe2122Leu)
c.5557T>C (p.Phe1853Leu)
n.506T>C
c.1858T>C (p.Phe620Leu)
c.5944T>C (p.Phe1982Leu)
c.5308T>C (p.Phe1770Leu)
c.2098T>C (p.Phe700Leu)
5g.177292059T>GCA362320585NSD1c.5491T>G (p.Phe1831Val)
c.1006T>G (p.Phe336Val)
n.5947T>G
n.780T>G
c.6055T>G (p.Phe2019Val)
n.5761T>G
c.6364T>G (p.Phe2122Val)
c.5557T>G (p.Phe1853Val)
n.506T>G
c.1858T>G (p.Phe620Val)
c.5944T>G (p.Phe1982Val)
c.5308T>G (p.Phe1770Val)
c.2098T>G (p.Phe700Val)
 COSMIC COSMIC
5g.177292060T>ACA362320588NSD1c.5492T>A (p.Phe1831Tyr)
c.1007T>A (p.Phe336Tyr)
n.5948T>A
n.781T>A
c.6056T>A (p.Phe2019Tyr)
n.5762T>A
c.6365T>A (p.Phe2122Tyr)
c.5558T>A (p.Phe1853Tyr)
n.507T>A
c.1859T>A (p.Phe620Tyr)
c.5945T>A (p.Phe1982Tyr)
c.5309T>A (p.Phe1770Tyr)
c.2099T>A (p.Phe700Tyr)
5g.177292060T>CCA362320591NSD1c.5492T>C (p.Phe1831Ser)
c.1007T>C (p.Phe336Ser)
n.5948T>C
n.781T>C
c.6056T>C (p.Phe2019Ser)
n.5762T>C
c.6365T>C (p.Phe2122Ser)
c.5558T>C (p.Phe1853Ser)
n.507T>C
c.1859T>C (p.Phe620Ser)
c.5945T>C (p.Phe1982Ser)
c.5309T>C (p.Phe1770Ser)
c.2099T>C (p.Phe700Ser)
5g.177292060T>GCA362320593NSD1c.5492T>G (p.Phe1831Cys)
c.1007T>G (p.Phe336Cys)
n.5948T>G
n.781T>G
c.6056T>G (p.Phe2019Cys)
n.5762T>G
c.6365T>G (p.Phe2122Cys)
c.5558T>G (p.Phe1853Cys)
n.507T>G
c.1859T>G (p.Phe620Cys)
c.5945T>G (p.Phe1982Cys)
c.5309T>G (p.Phe1770Cys)
c.2099T>G (p.Phe700Cys)
5g.177292061T>ACA362320597NSD1c.5493T>A (p.Phe1831Leu)
c.1008T>A (p.Phe336Leu)
n.5949T>A
n.782T>A
c.6057T>A (p.Phe2019Leu)
n.5763T>A
c.6366T>A (p.Phe2122Leu)
c.5559T>A (p.Phe1853Leu)
n.508T>A
c.1860T>A (p.Phe620Leu)
c.5946T>A (p.Phe1982Leu)
c.5310T>A (p.Phe1770Leu)
c.2100T>A (p.Phe700Leu)
5g.177292061T>CCA447740745NSD1c.5493T>C (p.Phe1831=)
c.1008T>C (p.Phe336=)
n.5949T>C
n.782T>C
c.6057T>C (p.Phe2019=)
n.5763T>C
c.6366T>C (p.Phe2122=)
c.5559T>C (p.Phe1853=)
n.508T>C
c.1860T>C (p.Phe620=)
c.5946T>C (p.Phe1982=)
c.5310T>C (p.Phe1770=)
c.2100T>C (p.Phe700=)
5g.177292061T>GCA362320595NSD1c.5493T>G (p.Phe1831Leu)
c.1008T>G (p.Phe336Leu)
n.5949T>G
n.782T>G
c.6057T>G (p.Phe2019Leu)
n.5763T>G
c.6366T>G (p.Phe2122Leu)
c.5559T>G (p.Phe1853Leu)
n.508T>G
c.1860T>G (p.Phe620Leu)
c.5946T>G (p.Phe1982Leu)
c.5310T>G (p.Phe1770Leu)
c.2100T>G (p.Phe700Leu)
 ClinVar dbSNP
5g.177292061T=CA1603532857NSD1c.5493T= (p.Phe1831=)
c.1008T= (p.Phe336=)
n.5949T=
n.782T=
c.6057T= (p.Phe2019=)
n.5763T=
c.6366T= (p.Phe2122=)
c.5559T= (p.Phe1853=)
n.508T=
c.1860T= (p.Phe620=)
c.5946T= (p.Phe1982=)
c.5310T= (p.Phe1770=)
c.2100T= (p.Phe700=)
5g.177292062A>CCA362320600NSD1c.5494A>C (p.Ser1832Arg)
c.1009A>C (p.Ser337Arg)
n.5950A>C
n.783A>C
c.6058A>C (p.Ser2020Arg)
n.5764A>C
c.6367A>C (p.Ser2123Arg)
c.5560A>C (p.Ser1854Arg)
n.509A>C
c.1861A>C (p.Ser621Arg)
c.5947A>C (p.Ser1983Arg)
c.5311A>C (p.Ser1771Arg)
c.2101A>C (p.Ser701Arg)
5g.177292062A>GCA362320602NSD1c.5494A>G (p.Ser1832Gly)
c.1009A>G (p.Ser337Gly)
n.5950A>G
n.783A>G
c.6058A>G (p.Ser2020Gly)
n.5764A>G
c.6367A>G (p.Ser2123Gly)
c.5560A>G (p.Ser1854Gly)
n.509A>G
c.1861A>G (p.Ser621Gly)
c.5947A>G (p.Ser1983Gly)
c.5311A>G (p.Ser1771Gly)
c.2101A>G (p.Ser701Gly)
5g.177292062A>TCA362320604NSD1c.5494A>T (p.Ser1832Cys)
c.1009A>T (p.Ser337Cys)
n.5950A>T
n.783A>T
c.6058A>T (p.Ser2020Cys)
n.5764A>T
c.6367A>T (p.Ser2123Cys)
c.5560A>T (p.Ser1854Cys)
n.509A>T
c.1861A>T (p.Ser621Cys)
c.5947A>T (p.Ser1983Cys)
c.5311A>T (p.Ser1771Cys)
c.2101A>T (p.Ser701Cys)
5g.177292063_177292072delCA2695205738NSD1c.5495_5504del (p.Ser1832MetfsTer24)
c.1010_1019del (p.Ser337MetfsTer24)
n.5951_5960del
n.784_793del
c.6059_6068del (p.Ser2020MetfsTer24)
n.5765_5774del
c.6368_6377del (p.Ser2123MetfsTer24)
c.5561_5570del (p.Ser1854MetfsTer24)
n.510_519del
c.1862_1871del (p.Ser621MetfsTer24)
c.5948_5957del (p.Ser1983MetfsTer24)
c.5312_5321del (p.Ser1771MetfsTer24)
c.2102_2111del (p.Ser701MetfsTer24)
5g.177292063G>ACA362320607NSD1c.5495G>A (p.Ser1832Asn)
c.1010G>A (p.Ser337Asn)
n.5951G>A
n.784G>A
c.6059G>A (p.Ser2020Asn)
n.5765G>A
c.6368G>A (p.Ser2123Asn)
c.5561G>A (p.Ser1854Asn)
n.510G>A
c.1862G>A (p.Ser621Asn)
c.5948G>A (p.Ser1983Asn)
c.5312G>A (p.Ser1771Asn)
c.2102G>A (p.Ser701Asn)
 gnomAD v4
5g.177292063G>CCA362320609NSD1c.5495G>C (p.Ser1832Thr)
c.1010G>C (p.Ser337Thr)
n.5951G>C
n.784G>C
c.6059G>C (p.Ser2020Thr)
n.5765G>C
c.6368G>C (p.Ser2123Thr)
c.5561G>C (p.Ser1854Thr)
n.510G>C
c.1862G>C (p.Ser621Thr)
c.5948G>C (p.Ser1983Thr)
c.5312G>C (p.Ser1771Thr)
c.2102G>C (p.Ser701Thr)
5g.177292063G>TCA362320612NSD1c.5495G>T (p.Ser1832Ile)
c.1010G>T (p.Ser337Ile)
n.5951G>T
n.784G>T
c.6059G>T (p.Ser2020Ile)
n.5765G>T
c.6368G>T (p.Ser2123Ile)
c.5561G>T (p.Ser1854Ile)
n.510G>T
c.1862G>T (p.Ser621Ile)
c.5948G>T (p.Ser1983Ile)
c.5312G>T (p.Ser1771Ile)
c.2102G>T (p.Ser701Ile)
5g.177292064T>ACA362320617NSD1c.5496T>A (p.Ser1832Arg)
c.1011T>A (p.Ser337Arg)
n.5952T>A
n.785T>A
c.6060T>A (p.Ser2020Arg)
n.5766T>A
c.6369T>A (p.Ser2123Arg)
c.5562T>A (p.Ser1854Arg)
n.511T>A
c.1863T>A (p.Ser621Arg)
c.5949T>A (p.Ser1983Arg)
c.5313T>A (p.Ser1771Arg)
c.2103T>A (p.Ser701Arg)
5g.177292064T>CCA447740746NSD1c.5496T>C (p.Ser1832=)
c.1011T>C (p.Ser337=)
n.5952T>C
n.785T>C
c.6060T>C (p.Ser2020=)
n.5766T>C
c.6369T>C (p.Ser2123=)
c.5562T>C (p.Ser1854=)
n.511T>C
c.1863T>C (p.Ser621=)
c.5949T>C (p.Ser1983=)
c.5313T>C (p.Ser1771=)
c.2103T>C (p.Ser701=)
5g.177292064T>GCA362320615NSD1c.5496T>G (p.Ser1832Arg)
c.1011T>G (p.Ser337Arg)
n.5952T>G
n.785T>G
c.6060T>G (p.Ser2020Arg)
n.5766T>G
c.6369T>G (p.Ser2123Arg)
c.5562T>G (p.Ser1854Arg)
n.511T>G
c.1863T>G (p.Ser621Arg)
c.5949T>G (p.Ser1983Arg)
c.5313T>G (p.Ser1771Arg)
c.2103T>G (p.Ser701Arg)
5g.177292065T>ACA362320621NSD1c.5497T>A (p.Cys1833Ser)
c.1012T>A (p.Cys338Ser)
n.5953T>A
n.786T>A
c.6061T>A (p.Cys2021Ser)
n.5767T>A
c.6370T>A (p.Cys2124Ser)
c.5563T>A (p.Cys1855Ser)
n.512T>A
c.1864T>A (p.Cys622Ser)
c.5950T>A (p.Cys1984Ser)
c.5314T>A (p.Cys1772Ser)
c.2104T>A (p.Cys702Ser)
5g.177292065T>CCA362320624NSD1c.5497T>C (p.Cys1833Arg)
c.1012T>C (p.Cys338Arg)
n.5953T>C
n.786T>C
c.6061T>C (p.Cys2021Arg)
n.5767T>C
c.6370T>C (p.Cys2124Arg)
c.5563T>C (p.Cys1855Arg)
n.512T>C
c.1864T>C (p.Cys622Arg)
c.5950T>C (p.Cys1984Arg)
c.5314T>C (p.Cys1772Arg)
c.2104T>C (p.Cys702Arg)
5g.177292065T>GCA362320626NSD1c.5497T>G (p.Cys1833Gly)
c.1012T>G (p.Cys338Gly)
n.5953T>G
n.786T>G
c.6061T>G (p.Cys2021Gly)
n.5767T>G
c.6370T>G (p.Cys2124Gly)
c.5563T>G (p.Cys1855Gly)
n.512T>G
c.1864T>G (p.Cys622Gly)
c.5950T>G (p.Cys1984Gly)
c.5314T>G (p.Cys1772Gly)
c.2104T>G (p.Cys702Gly)
 ClinVar dbSNP
5g.177292065T=CA1603532865NSD1c.5497T= (p.Cys1833=)
c.1012T= (p.Cys338=)
n.5953T=
n.786T=
c.6061T= (p.Cys2021=)
n.5767T=
c.6370T= (p.Cys2124=)
c.5563T= (p.Cys1855=)
n.512T=
c.1864T= (p.Cys622=)
c.5950T= (p.Cys1984=)
c.5314T= (p.Cys1772=)
c.2104T= (p.Cys702=)
5g.177292066G>ACA132861340NSD1c.5498G>A (p.Cys1833Tyr)
c.1013G>A (p.Cys338Tyr)
n.5954G>A
n.787G>A
c.6062G>A (p.Cys2021Tyr)
n.5768G>A
c.6371G>A (p.Cys2124Tyr)
c.5564G>A (p.Cys1855Tyr)
n.513G>A
c.1865G>A (p.Cys622Tyr)
c.5951G>A (p.Cys1984Tyr)
c.5315G>A (p.Cys1772Tyr)
c.2105G>A (p.Cys702Tyr)
 dbSNP COSMIC
5g.177292066G>CCA362320631NSD1c.5498G>C (p.Cys1833Ser)
c.1013G>C (p.Cys338Ser)
n.5954G>C
n.787G>C
c.6062G>C (p.Cys2021Ser)
n.5768G>C
c.6371G>C (p.Cys2124Ser)
c.5564G>C (p.Cys1855Ser)
n.513G>C
c.1865G>C (p.Cys622Ser)
c.5951G>C (p.Cys1984Ser)
c.5315G>C (p.Cys1772Ser)
c.2105G>C (p.Cys702Ser)
5g.177292066G=CA1603532869NSD1c.5498G= (p.Cys1833=)
c.1013G= (p.Cys338=)
n.5954G=
n.787G=
c.6062G= (p.Cys2021=)
n.5768G=
c.6371G= (p.Cys2124=)
c.5564G= (p.Cys1855=)
n.513G=
c.1865G= (p.Cys622=)
c.5951G= (p.Cys1984=)
c.5315G= (p.Cys1772=)
c.2105G= (p.Cys702=)
5g.177292066G>TCA362320634NSD1c.5498G>T (p.Cys1833Phe)
c.1013G>T (p.Cys338Phe)
n.5954G>T
n.787G>T
c.6062G>T (p.Cys2021Phe)
n.5768G>T
c.6371G>T (p.Cys2124Phe)
c.5564G>T (p.Cys1855Phe)
n.513G>T
c.1865G>T (p.Cys622Phe)
c.5951G>T (p.Cys1984Phe)
c.5315G>T (p.Cys1772Phe)
c.2105G>T (p.Cys702Phe)
5g.177292067T>ACA362320638NSD1c.5499T>A (p.Cys1833Ter)
c.1014T>A (p.Cys338Ter)
n.5955T>A
n.788T>A
c.6063T>A (p.Cys2021Ter)
n.5769T>A
c.6372T>A (p.Cys2124Ter)
c.5565T>A (p.Cys1855Ter)
n.514T>A
c.1866T>A (p.Cys622Ter)
c.5952T>A (p.Cys1984Ter)
c.5316T>A (p.Cys1772Ter)
c.2106T>A (p.Cys702Ter)
5g.177292067T>CCA3577980NSD1c.5499T>C (p.Cys1833=)
c.1014T>C (p.Cys338=)
n.5955T>C
n.788T>C
c.6063T>C (p.Cys2021=)
n.5769T>C
c.6372T>C (p.Cys2124=)
c.5565T>C (p.Cys1855=)
n.514T>C
c.1866T>C (p.Cys622=)
c.5952T>C (p.Cys1984=)
c.5316T>C (p.Cys1772=)
c.2106T>C (p.Cys702=)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.177292067T>GCA362320640NSD1c.5499T>G (p.Cys1833Trp)
c.1014T>G (p.Cys338Trp)
n.5955T>G
n.788T>G
c.6063T>G (p.Cys2021Trp)
n.5769T>G
c.6372T>G (p.Cys2124Trp)
c.5565T>G (p.Cys1855Trp)
n.514T>G
c.1866T>G (p.Cys622Trp)
c.5952T>G (p.Cys1984Trp)
c.5316T>G (p.Cys1772Trp)
c.2106T>G (p.Cys702Trp)
5g.177292067T=CA1603532873NSD1c.5499T= (p.Cys1833=)
c.1014T= (p.Cys338=)
n.5955T=
n.788T=
c.6063T= (p.Cys2021=)
n.5769T=
c.6372T= (p.Cys2124=)
c.5565T= (p.Cys1855=)
n.514T=
c.1866T= (p.Cys622=)
c.5952T= (p.Cys1984=)
c.5316T= (p.Cys1772=)
c.2106T= (p.Cys702=)
5g.177292068G>ACA362320645NSD1c.5500G>A (p.Gly1834Arg)
c.1015G>A (p.Gly339Arg)
n.5956G>A
n.789G>A
c.6064G>A (p.Gly2022Arg)
n.5770G>A
c.6373G>A (p.Gly2125Arg)
c.5566G>A (p.Gly1856Arg)
n.515G>A
c.1867G>A (p.Gly623Arg)
c.5953G>A (p.Gly1985Arg)
c.5317G>A (p.Gly1773Arg)
c.2107G>A (p.Gly703Arg)
5g.177292068G>CCA362320647NSD1c.5500G>C (p.Gly1834Arg)
c.1015G>C (p.Gly339Arg)
n.5956G>C
n.789G>C
c.6064G>C (p.Gly2022Arg)
n.5770G>C
c.6373G>C (p.Gly2125Arg)
c.5566G>C (p.Gly1856Arg)
n.515G>C
c.1867G>C (p.Gly623Arg)
c.5953G>C (p.Gly1985Arg)
c.5317G>C (p.Gly1773Arg)
c.2107G>C (p.Gly703Arg)
5g.177292068G>TCA362320649NSD1c.5500G>T (p.Gly1834Trp)
c.1015G>T (p.Gly339Trp)
n.5956G>T
n.789G>T
c.6064G>T (p.Gly2022Trp)
n.5770G>T
c.6373G>T (p.Gly2125Trp)
c.5566G>T (p.Gly1856Trp)
n.515G>T
c.1867G>T (p.Gly623Trp)
c.5953G>T (p.Gly1985Trp)
c.5317G>T (p.Gly1773Trp)
c.2107G>T (p.Gly703Trp)
5g.177292069G>ACA362320652NSD1c.5501G>A (p.Gly1834Glu)
c.1016G>A (p.Gly339Glu)
n.5957G>A
n.790G>A
c.6065G>A (p.Gly2022Glu)
n.5771G>A
c.6374G>A (p.Gly2125Glu)
c.5567G>A (p.Gly1856Glu)
n.516G>A
c.1868G>A (p.Gly623Glu)
c.5954G>A (p.Gly1985Glu)
c.5318G>A (p.Gly1773Glu)
c.2108G>A (p.Gly703Glu)
 dbSNP
5g.177292069G>CCA362320654NSD1c.5501G>C (p.Gly1834Ala)
c.1016G>C (p.Gly339Ala)
n.5957G>C
n.790G>C
c.6065G>C (p.Gly2022Ala)
n.5771G>C
c.6374G>C (p.Gly2125Ala)
c.5567G>C (p.Gly1856Ala)
n.516G>C
c.1868G>C (p.Gly623Ala)
c.5954G>C (p.Gly1985Ala)
c.5318G>C (p.Gly1773Ala)
c.2108G>C (p.Gly703Ala)
5g.177292069G>TCA362320657NSD1c.5501G>T (p.Gly1834Val)
c.1016G>T (p.Gly339Val)
n.5957G>T
n.790G>T
c.6065G>T (p.Gly2022Val)
n.5771G>T
c.6374G>T (p.Gly2125Val)
c.5567G>T (p.Gly1856Val)
n.516G>T
c.1868G>T (p.Gly623Val)
c.5954G>T (p.Gly1985Val)
c.5318G>T (p.Gly1773Val)
c.2108G>T (p.Gly703Val)
5g.177292070G>ACA447740747NSD1c.5502G>A (p.Gly1834=)
c.1017G>A (p.Gly339=)
n.5958G>A
n.791G>A
c.6066G>A (p.Gly2022=)
n.5772G>A
c.6375G>A (p.Gly2125=)
c.5568G>A (p.Gly1856=)
n.517G>A
c.1869G>A (p.Gly623=)
c.5955G>A (p.Gly1985=)
c.5319G>A (p.Gly1773=)
c.2109G>A (p.Gly703=)
 dbSNP
5g.177292070G>CCA447740748NSD1c.5502G>C (p.Gly1834=)
c.1017G>C (p.Gly339=)
n.5958G>C
n.791G>C
c.6066G>C (p.Gly2022=)
n.5772G>C
c.6375G>C (p.Gly2125=)
c.5568G>C (p.Gly1856=)
n.517G>C
c.1869G>C (p.Gly623=)
c.5955G>C (p.Gly1985=)
c.5319G>C (p.Gly1773=)
c.2109G>C (p.Gly703=)
5g.177292070G>TCA447740749NSD1c.5502G>T (p.Gly1834=)
c.1017G>T (p.Gly339=)
n.5958G>T
n.791G>T
c.6066G>T (p.Gly2022=)
n.5772G>T
c.6375G>T (p.Gly2125=)
c.5568G>T (p.Gly1856=)
n.517G>T
c.1869G>T (p.Gly623=)
c.5955G>T (p.Gly1985=)
c.5319G>T (p.Gly1773=)
c.2109G>T (p.Gly703=)
5g.177292071G>ACA362320661NSD1c.5503G>A (p.Asp1835Asn)
c.1018G>A (p.Asp340Asn)
n.5959G>A
n.792G>A
c.6067G>A (p.Asp2023Asn)
n.5773G>A
c.6376G>A (p.Asp2126Asn)
c.5569G>A (p.Asp1857Asn)
n.518G>A
c.1870G>A (p.Asp624Asn)
c.5956G>A (p.Asp1986Asn)
c.5320G>A (p.Asp1774Asn)
c.2110G>A (p.Asp704Asn)
5g.177292071G>CCA362320663NSD1c.5503G>C (p.Asp1835His)
c.1018G>C (p.Asp340His)
n.5959G>C
n.792G>C
c.6067G>C (p.Asp2023His)
n.5773G>C
c.6376G>C (p.Asp2126His)
c.5569G>C (p.Asp1857His)
n.518G>C
c.1870G>C (p.Asp624His)
c.5956G>C (p.Asp1986His)
c.5320G>C (p.Asp1774His)
c.2110G>C (p.Asp704His)
 COSMIC COSMIC
5g.177292071G>TCA362320666NSD1c.5503G>T (p.Asp1835Tyr)
c.1018G>T (p.Asp340Tyr)
n.5959G>T
n.792G>T
c.6067G>T (p.Asp2023Tyr)
n.5773G>T
c.6376G>T (p.Asp2126Tyr)
c.5569G>T (p.Asp1857Tyr)
n.518G>T
c.1870G>T (p.Asp624Tyr)
c.5956G>T (p.Asp1986Tyr)
c.5320G>T (p.Asp1774Tyr)
c.2110G>T (p.Asp704Tyr)
5g.177292072A=CA1603532878NSD1c.5504A= (p.Asp1835=)
c.1019A= (p.Asp340=)
n.5960A=
n.793A=
c.6068A= (p.Asp2023=)
n.5774A=
c.6377A= (p.Asp2126=)
c.5570A= (p.Asp1857=)
n.519A=
c.1871A= (p.Asp624=)
c.5957A= (p.Asp1986=)
c.5321A= (p.Asp1774=)
c.2111A= (p.Asp704=)
5g.177292072A>CCA362320670NSD1c.5504A>C (p.Asp1835Ala)
c.1019A>C (p.Asp340Ala)
n.5960A>C
n.793A>C
c.6068A>C (p.Asp2023Ala)
n.5774A>C
c.6377A>C (p.Asp2126Ala)
c.5570A>C (p.Asp1857Ala)
n.519A>C
c.1871A>C (p.Asp624Ala)
c.5957A>C (p.Asp1986Ala)
c.5321A>C (p.Asp1774Ala)
c.2111A>C (p.Asp704Ala)
5g.177292072A>GCA362320671NSD1c.5504A>G (p.Asp1835Gly)
c.1019A>G (p.Asp340Gly)
n.5960A>G
n.793A>G
c.6068A>G (p.Asp2023Gly)
n.5774A>G
c.6377A>G (p.Asp2126Gly)
c.5570A>G (p.Asp1857Gly)
n.519A>G
c.1871A>G (p.Asp624Gly)
c.5957A>G (p.Asp1986Gly)
c.5321A>G (p.Asp1774Gly)
c.2111A>G (p.Asp704Gly)
5g.177292072A>TCA295066NSD1c.5504A>T (p.Asp1835Val)
c.1019A>T (p.Asp340Val)
n.5960A>T
n.793A>T
c.6068A>T (p.Asp2023Val)
n.5774A>T
c.6377A>T (p.Asp2126Val)
c.5570A>T (p.Asp1857Val)
n.519A>T
c.1871A>T (p.Asp624Val)
c.5957A>T (p.Asp1986Val)
c.5321A>T (p.Asp1774Val)
c.2111A>T (p.Asp704Val)
 ClinVar dbSNP
5g.177292073T>ACA362320677NSD1c.5505T>A (p.Asp1835Glu)
c.1020T>A (p.Asp340Glu)
n.5961T>A
n.794T>A
c.6069T>A (p.Asp2023Glu)
n.5775T>A
c.6378T>A (p.Asp2126Glu)
c.5571T>A (p.Asp1857Glu)
n.520T>A
c.1872T>A (p.Asp624Glu)
c.5958T>A (p.Asp1986Glu)
c.5322T>A (p.Asp1774Glu)
c.2112T>A (p.Asp704Glu)
5g.177292073T>CCA447740750NSD1c.5505T>C (p.Asp1835=)
c.1020T>C (p.Asp340=)
n.5961T>C
n.794T>C
c.6069T>C (p.Asp2023=)
n.5775T>C
c.6378T>C (p.Asp2126=)
c.5571T>C (p.Asp1857=)
n.520T>C
c.1872T>C (p.Asp624=)
c.5958T>C (p.Asp1986=)
c.5322T>C (p.Asp1774=)
c.2112T>C (p.Asp704=)
5g.177292073T>GCA362320676NSD1c.5505T>G (p.Asp1835Glu)
c.1020T>G (p.Asp340Glu)
n.5961T>G
n.794T>G
c.6069T>G (p.Asp2023Glu)
n.5775T>G
c.6378T>G (p.Asp2126Glu)
c.5571T>G (p.Asp1857Glu)
n.520T>G
c.1872T>G (p.Asp624Glu)
c.5958T>G (p.Asp1986Glu)
c.5322T>G (p.Asp1774Glu)
c.2112T>G (p.Asp704Glu)

Number of alleles fetched