Chr Mutation (hg38) CAid Gene Transcript Linkouts
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.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)
5g.177292074G>ACA362320680NSD1c.5506G>A (p.Ala1836Thr)
c.1021G>A (p.Ala341Thr)
n.5962G>A
n.795G>A
c.6070G>A (p.Ala2024Thr)
n.5776G>A
c.6379G>A (p.Ala2127Thr)
c.5572G>A (p.Ala1858Thr)
n.521G>A
c.1873G>A (p.Ala625Thr)
c.5959G>A (p.Ala1987Thr)
c.5323G>A (p.Ala1775Thr)
c.2113G>A (p.Ala705Thr)
 dbSNP
5g.177292074G>CCA362320685NSD1c.5506G>C (p.Ala1836Pro)
c.1021G>C (p.Ala341Pro)
n.5962G>C
n.795G>C
c.6070G>C (p.Ala2024Pro)
n.5776G>C
c.6379G>C (p.Ala2127Pro)
c.5572G>C (p.Ala1858Pro)
n.521G>C
c.1873G>C (p.Ala625Pro)
c.5959G>C (p.Ala1987Pro)
c.5323G>C (p.Ala1775Pro)
c.2113G>C (p.Ala705Pro)
5g.177292074G>TCA362320682NSD1c.5506G>T (p.Ala1836Ser)
c.1021G>T (p.Ala341Ser)
n.5962G>T
n.795G>T
c.6070G>T (p.Ala2024Ser)
n.5776G>T
c.6379G>T (p.Ala2127Ser)
c.5572G>T (p.Ala1858Ser)
n.521G>T
c.1873G>T (p.Ala625Ser)
c.5959G>T (p.Ala1987Ser)
c.5323G>T (p.Ala1775Ser)
c.2113G>T (p.Ala705Ser)
5g.177292075C>ACA362320689NSD1c.5507C>A (p.Ala1836Asp)
c.1022C>A (p.Ala341Asp)
n.5963C>A
n.796C>A
c.6071C>A (p.Ala2024Asp)
n.5777C>A
c.6380C>A (p.Ala2127Asp)
c.5573C>A (p.Ala1858Asp)
n.522C>A
c.1874C>A (p.Ala625Asp)
c.5960C>A (p.Ala1987Asp)
c.5324C>A (p.Ala1775Asp)
c.2114C>A (p.Ala705Asp)
 dbSNP
5g.177292075C>GCA362320691NSD1c.5507C>G (p.Ala1836Gly)
c.1022C>G (p.Ala341Gly)
n.5963C>G
n.796C>G
c.6071C>G (p.Ala2024Gly)
n.5777C>G
c.6380C>G (p.Ala2127Gly)
c.5573C>G (p.Ala1858Gly)
n.522C>G
c.1874C>G (p.Ala625Gly)
c.5960C>G (p.Ala1987Gly)
c.5324C>G (p.Ala1775Gly)
c.2114C>G (p.Ala705Gly)
5g.177292075C>TCA362320694NSD1c.5507C>T (p.Ala1836Val)
c.1022C>T (p.Ala341Val)
n.5963C>T
n.796C>T
c.6071C>T (p.Ala2024Val)
n.5777C>T
c.6380C>T (p.Ala2127Val)
c.5573C>T (p.Ala1858Val)
n.522C>T
c.1874C>T (p.Ala625Val)
c.5960C>T (p.Ala1987Val)
c.5324C>T (p.Ala1775Val)
c.2114C>T (p.Ala705Val)
 dbSNP COSMIC COSMIC
5g.177292076T>ACA447740751NSD1c.5508T>A (p.Ala1836=)
c.1023T>A (p.Ala341=)
n.5964T>A
n.797T>A
c.6072T>A (p.Ala2024=)
n.5778T>A
c.6381T>A (p.Ala2127=)
c.5574T>A (p.Ala1858=)
n.523T>A
c.1875T>A (p.Ala625=)
c.5961T>A (p.Ala1987=)
c.5325T>A (p.Ala1775=)
c.2115T>A (p.Ala705=)
5g.177292076T>CCA447740753NSD1c.5508T>C (p.Ala1836=)
c.1023T>C (p.Ala341=)
n.5964T>C
n.797T>C
c.6072T>C (p.Ala2024=)
n.5778T>C
c.6381T>C (p.Ala2127=)
c.5574T>C (p.Ala1858=)
n.523T>C
c.1875T>C (p.Ala625=)
c.5961T>C (p.Ala1987=)
c.5325T>C (p.Ala1775=)
c.2115T>C (p.Ala705=)
 gnomAD v4 COSMIC COSMIC
5g.177292076T>GCA447740752NSD1c.5508T>G (p.Ala1836=)
c.1023T>G (p.Ala341=)
n.5964T>G
n.797T>G
c.6072T>G (p.Ala2024=)
n.5778T>G
c.6381T>G (p.Ala2127=)
c.5574T>G (p.Ala1858=)
n.523T>G
c.1875T>G (p.Ala625=)
c.5961T>G (p.Ala1987=)
c.5325T>G (p.Ala1775=)
c.2115T>G (p.Ala705=)
5g.177292077G>ACA362320697NSD1c.5509G>A (p.Gly1837Ser)
c.1024G>A (p.Gly342Ser)
n.5965G>A
n.798G>A
c.6073G>A (p.Gly2025Ser)
n.5779G>A
c.6382G>A (p.Gly2128Ser)
c.5575G>A (p.Gly1859Ser)
n.524G>A
c.1876G>A (p.Gly626Ser)
c.5962G>A (p.Gly1988Ser)
c.5326G>A (p.Gly1776Ser)
c.2116G>A (p.Gly706Ser)
 dbSNP
5g.177292077G>CCA362320701NSD1c.5509G>C (p.Gly1837Arg)
c.1024G>C (p.Gly342Arg)
n.5965G>C
n.798G>C
c.6073G>C (p.Gly2025Arg)
n.5779G>C
c.6382G>C (p.Gly2128Arg)
c.5575G>C (p.Gly1859Arg)
n.524G>C
c.1876G>C (p.Gly626Arg)
c.5962G>C (p.Gly1988Arg)
c.5326G>C (p.Gly1776Arg)
c.2116G>C (p.Gly706Arg)
5g.177292077G>TCA362320702NSD1c.5509G>T (p.Gly1837Cys)
c.1024G>T (p.Gly342Cys)
n.5965G>T
n.798G>T
c.6073G>T (p.Gly2025Cys)
n.5779G>T
c.6382G>T (p.Gly2128Cys)
c.5575G>T (p.Gly1859Cys)
n.524G>T
c.1876G>T (p.Gly626Cys)
c.5962G>T (p.Gly1988Cys)
c.5326G>T (p.Gly1776Cys)
c.2116G>T (p.Gly706Cys)
5g.177292078dupCA2695205739NSD1c.5510dup (p.Gln1838ProfsTer?)
c.1025dup (p.Gln343ProfsTer?)
n.5966dup
n.799dup
c.6074dup (p.Gln2026ProfsTer?)
n.5780dup
c.6383dup (p.Gln2129ProfsTer?)
c.5576dup (p.Gln1860ProfsTer?)
n.525dup
c.1877dup (p.Gln627ProfsTer?)
c.5963dup (p.Gln1989ProfsTer?)
c.5327dup (p.Gln1777ProfsTer?)
c.2117dup (p.Gln707ProfsTer?)
5g.177292078G>ACA362320705NSD1c.5510G>A (p.Gly1837Asp)
c.1025G>A (p.Gly342Asp)
n.5966G>A
n.799G>A
c.6074G>A (p.Gly2025Asp)
n.5780G>A
c.6383G>A (p.Gly2128Asp)
c.5576G>A (p.Gly1859Asp)
n.525G>A
c.1877G>A (p.Gly626Asp)
c.5963G>A (p.Gly1988Asp)
c.5327G>A (p.Gly1776Asp)
c.2117G>A (p.Gly706Asp)
 dbSNP
5g.177292078G>CCA362320707NSD1c.5510G>C (p.Gly1837Ala)
c.1025G>C (p.Gly342Ala)
n.5966G>C
n.799G>C
c.6074G>C (p.Gly2025Ala)
n.5780G>C
c.6383G>C (p.Gly2128Ala)
c.5576G>C (p.Gly1859Ala)
n.525G>C
c.1877G>C (p.Gly626Ala)
c.5963G>C (p.Gly1988Ala)
c.5327G>C (p.Gly1776Ala)
c.2117G>C (p.Gly706Ala)
5g.177292078G>TCA362320710NSD1c.5510G>T (p.Gly1837Val)
c.1025G>T (p.Gly342Val)
n.5966G>T
n.799G>T
c.6074G>T (p.Gly2025Val)
n.5780G>T
c.6383G>T (p.Gly2128Val)
c.5576G>T (p.Gly1859Val)
n.525G>T
c.1877G>T (p.Gly626Val)
c.5963G>T (p.Gly1988Val)
c.5327G>T (p.Gly1776Val)
c.2117G>T (p.Gly706Val)
5g.177292079C>ACA447740754NSD1c.5511C>A (p.Gly1837=)
c.1026C>A (p.Gly342=)
n.5967C>A
n.800C>A
c.6075C>A (p.Gly2025=)
n.5781C>A
c.6384C>A (p.Gly2128=)
c.5577C>A (p.Gly1859=)
n.526C>A
c.1878C>A (p.Gly626=)
c.5964C>A (p.Gly1988=)
c.5328C>A (p.Gly1776=)
c.2118C>A (p.Gly706=)
 dbSNP gnomAD v4
5g.177292079C=CA1603532882NSD1c.5511C= (p.Gly1837=)
c.1026C= (p.Gly342=)
n.5967C=
n.800C=
c.6075C= (p.Gly2025=)
n.5781C=
c.6384C= (p.Gly2128=)
c.5577C= (p.Gly1859=)
n.526C=
c.1878C= (p.Gly626=)
c.5964C= (p.Gly1988=)
c.5328C= (p.Gly1776=)
c.2118C= (p.Gly706=)
5g.177292079C>GCA447740755NSD1c.5511C>G (p.Gly1837=)
c.1026C>G (p.Gly342=)
n.5967C>G
n.800C>G
c.6075C>G (p.Gly2025=)
n.5781C>G
c.6384C>G (p.Gly2128=)
c.5577C>G (p.Gly1859=)
n.526C>G
c.1878C>G (p.Gly626=)
c.5964C>G (p.Gly1988=)
c.5328C>G (p.Gly1776=)
c.2118C>G (p.Gly706=)
 dbSNP gnomAD v2 gnomAD v4
5g.177292079C>TCA447740756NSD1c.5511C>T (p.Gly1837=)
c.1026C>T (p.Gly342=)
n.5967C>T
n.800C>T
c.6075C>T (p.Gly2025=)
n.5781C>T
c.6384C>T (p.Gly2128=)
c.5577C>T (p.Gly1859=)
n.526C>T
c.1878C>T (p.Gly626=)
c.5964C>T (p.Gly1988=)
c.5328C>T (p.Gly1776=)
c.2118C>T (p.Gly706=)
5g.177292080C>ACA362320713NSD1c.5512C>A (p.Gln1838Lys)
c.1027C>A (p.Gln343Lys)
n.5968C>A
n.801C>A
c.6076C>A (p.Gln2026Lys)
n.5782C>A
c.6385C>A (p.Gln2129Lys)
c.5578C>A (p.Gln1860Lys)
n.527C>A
c.1879C>A (p.Gln627Lys)
c.5965C>A (p.Gln1989Lys)
c.5329C>A (p.Gln1777Lys)
c.2119C>A (p.Gln707Lys)
 dbSNP
5g.177292080C=CA1603532886NSD1c.5512C= (p.Gln1838=)
c.1027C= (p.Gln343=)
n.5968C=
n.801C=
c.6076C= (p.Gln2026=)
n.5782C=
c.6385C= (p.Gln2129=)
c.5578C= (p.Gln1860=)
n.527C=
c.1879C= (p.Gln627=)
c.5965C= (p.Gln1989=)
c.5329C= (p.Gln1777=)
c.2119C= (p.Gln707=)
5g.177292080C>GCA362320716NSD1c.5512C>G (p.Gln1838Glu)
c.1027C>G (p.Gln343Glu)
n.5968C>G
n.801C>G
c.6076C>G (p.Gln2026Glu)
n.5782C>G
c.6385C>G (p.Gln2129Glu)
c.5578C>G (p.Gln1860Glu)
n.527C>G
c.1879C>G (p.Gln627Glu)
c.5965C>G (p.Gln1989Glu)
c.5329C>G (p.Gln1777Glu)
c.2119C>G (p.Gln707Glu)
 ClinVar dbSNP
5g.177292080C>TCA362320718NSD1c.5512C>T (p.Gln1838Ter)
c.1027C>T (p.Gln343Ter)
n.5968C>T
n.801C>T
c.6076C>T (p.Gln2026Ter)
n.5782C>T
c.6385C>T (p.Gln2129Ter)
c.5578C>T (p.Gln1860Ter)
n.527C>T
c.1879C>T (p.Gln627Ter)
c.5965C>T (p.Gln1989Ter)
c.5329C>T (p.Gln1777Ter)
c.2119C>T (p.Gln707Ter)
5g.177292081A=CA1603532893NSD1c.5513A= (p.Gln1838=)
c.1028A= (p.Gln343=)
n.5969A=
n.802A=
c.6077A= (p.Gln2026=)
n.5783A=
c.6386A= (p.Gln2129=)
c.5579A= (p.Gln1860=)
n.528A=
c.1880A= (p.Gln627=)
c.5966A= (p.Gln1989=)
c.5330A= (p.Gln1777=)
c.2120A= (p.Gln707=)
5g.177292081A>CCA362320728NSD1c.5513A>C (p.Gln1838Pro)
c.1028A>C (p.Gln343Pro)
n.5969A>C
n.802A>C
c.6077A>C (p.Gln2026Pro)
n.5783A>C
c.6386A>C (p.Gln2129Pro)
c.5579A>C (p.Gln1860Pro)
n.528A>C
c.1880A>C (p.Gln627Pro)
c.5966A>C (p.Gln1989Pro)
c.5330A>C (p.Gln1777Pro)
c.2120A>C (p.Gln707Pro)
5g.177292081A>GCA362320725NSD1c.5513A>G (p.Gln1838Arg)
c.1028A>G (p.Gln343Arg)
n.5969A>G
n.802A>G
c.6077A>G (p.Gln2026Arg)
n.5783A>G
c.6386A>G (p.Gln2129Arg)
c.5579A>G (p.Gln1860Arg)
n.528A>G
c.1880A>G (p.Gln627Arg)
c.5966A>G (p.Gln1989Arg)
c.5330A>G (p.Gln1777Arg)
c.2120A>G (p.Gln707Arg)
5g.177292081A>TCA362320722NSD1c.5513A>T (p.Gln1838Leu)
c.1028A>T (p.Gln343Leu)
n.5969A>T
n.802A>T
c.6077A>T (p.Gln2026Leu)
n.5783A>T
c.6386A>T (p.Gln2129Leu)
c.5579A>T (p.Gln1860Leu)
n.528A>T
c.1880A>T (p.Gln627Leu)
c.5966A>T (p.Gln1989Leu)
c.5330A>T (p.Gln1777Leu)
c.2120A>T (p.Gln707Leu)
 dbSNP gnomAD v4
5g.177292082G>ACA3577981NSD1c.5514G>A (p.Gln1838=)
c.1029G>A (p.Gln343=)
n.5970G>A
n.803G>A
c.6078G>A (p.Gln2026=)
n.5784G>A
c.6387G>A (p.Gln2129=)
c.5580G>A (p.Gln1860=)
n.529G>A
c.1881G>A (p.Gln627=)
c.5967G>A (p.Gln1989=)
c.5331G>A (p.Gln1777=)
c.2121G>A (p.Gln707=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.177292082G>CCA362320732NSD1c.5514G>C (p.Gln1838His)
c.1029G>C (p.Gln343His)
n.5970G>C
n.803G>C
c.6078G>C (p.Gln2026His)
n.5784G>C
c.6387G>C (p.Gln2129His)
c.5580G>C (p.Gln1860His)
n.529G>C
c.1881G>C (p.Gln627His)
c.5967G>C (p.Gln1989His)
c.5331G>C (p.Gln1777His)
c.2121G>C (p.Gln707His)
5g.177292082G=CA1603532898NSD1c.5514G= (p.Gln1838=)
c.1029G= (p.Gln343=)
n.5970G=
n.803G=
c.6078G= (p.Gln2026=)
n.5784G=
c.6387G= (p.Gln2129=)
c.5580G= (p.Gln1860=)
n.529G=
c.1881G= (p.Gln627=)
c.5967G= (p.Gln1989=)
c.5331G= (p.Gln1777=)
c.2121G= (p.Gln707=)
5g.177292082G>TCA362320733NSD1c.5514G>T (p.Gln1838His)
c.1029G>T (p.Gln343His)
n.5970G>T
n.803G>T
c.6078G>T (p.Gln2026His)
n.5784G>T
c.6387G>T (p.Gln2129His)
c.5580G>T (p.Gln1860His)
n.529G>T
c.1881G>T (p.Gln627His)
c.5967G>T (p.Gln1989His)
c.5331G>T (p.Gln1777His)
c.2121G>T (p.Gln707His)
5g.177292082_177292090delinsGCTCGTCTCCA1603532896NSD1c.5514_5522delinsGCTCGTCTC (p.Gln1838=)
c.1029_1037delinsGCTCGTCTC (p.Gln343=)
n.5970_5978delinsGCTCGTCTC
n.803_811delinsGCTCGTCTC
c.6078_6086delinsGCTCGTCTC (p.Gln2026=)
n.5784_5792delinsGCTCGTCTC
c.6387_6395delinsGCTCGTCTC (p.Gln2129=)
c.5580_5588delinsGCTCGTCTC (p.Gln1860=)
n.529_537delinsGCTCGTCTC
c.1881_1889delinsGCTCGTCTC (p.Gln627=)
c.5967_5975delinsGCTCGTCTC (p.Gln1989=)
c.5331_5339delinsGCTCGTCTC (p.Gln1777=)
c.2121_2129delinsGCTCGTCTC (p.Gln707=)
5g.177292083C>ACA362320737NSD1c.5515C>A (p.Leu1839Ile)
c.1030C>A (p.Leu344Ile)
n.5971C>A
n.804C>A
c.6079C>A (p.Leu2027Ile)
n.5785C>A
c.6388C>A (p.Leu2130Ile)
c.5581C>A (p.Leu1861Ile)
n.530C>A
c.1882C>A (p.Leu628Ile)
c.5968C>A (p.Leu1990Ile)
c.5332C>A (p.Leu1778Ile)
c.2122C>A (p.Leu708Ile)
5g.177292083C>GCA362320740NSD1c.5515C>G (p.Leu1839Val)
c.1030C>G (p.Leu344Val)
n.5971C>G
n.804C>G
c.6079C>G (p.Leu2027Val)
n.5785C>G
c.6388C>G (p.Leu2130Val)
c.5581C>G (p.Leu1861Val)
n.530C>G
c.1882C>G (p.Leu628Val)
c.5968C>G (p.Leu1990Val)
c.5332C>G (p.Leu1778Val)
c.2122C>G (p.Leu708Val)
 dbSNP gnomAD v3 gnomAD v4
5g.177292083C>TCA362320742NSD1c.5515C>T (p.Leu1839Phe)
c.1030C>T (p.Leu344Phe)
n.5971C>T
n.804C>T
c.6079C>T (p.Leu2027Phe)
n.5785C>T
c.6388C>T (p.Leu2130Phe)
c.5581C>T (p.Leu1861Phe)
n.530C>T
c.1882C>T (p.Leu628Phe)
c.5968C>T (p.Leu1990Phe)
c.5332C>T (p.Leu1778Phe)
c.2122C>T (p.Leu708Phe)
 dbSNP
5g.177292085_177292092delCA3577982NSD1c.5517_5524del (p.Val1840GlnfsTer?)
c.1032_1039del (p.Val345GlnfsTer?)
n.5973_5980del
n.806_813del
c.6081_6088del (p.Val2028GlnfsTer?)
n.5787_5794del
c.6390_6397del (p.Val2131GlnfsTer?)
c.5583_5590del (p.Val1862GlnfsTer?)
n.532_539del
c.1884_1891del (p.Val629GlnfsTer?)
c.5970_5977del (p.Val1991GlnfsTer?)
c.5334_5341del (p.Val1779GlnfsTer?)
c.2124_2131del (p.Val709GlnfsTer?)
 dbSNP ExAC gnomAD v2
5g.177292084T>ACA362320746NSD1c.5516T>A (p.Leu1839His)
c.1031T>A (p.Leu344His)
n.5972T>A
n.805T>A
c.6080T>A (p.Leu2027His)
n.5786T>A
c.6389T>A (p.Leu2130His)
c.5582T>A (p.Leu1861His)
n.531T>A
c.1883T>A (p.Leu628His)
c.5969T>A (p.Leu1990His)
c.5333T>A (p.Leu1778His)
c.2123T>A (p.Leu708His)
5g.177292084T>CCA362320748NSD1c.5516T>C (p.Leu1839Pro)
c.1031T>C (p.Leu344Pro)
n.5972T>C
n.805T>C
c.6080T>C (p.Leu2027Pro)
n.5786T>C
c.6389T>C (p.Leu2130Pro)
c.5582T>C (p.Leu1861Pro)
n.531T>C
c.1883T>C (p.Leu628Pro)
c.5969T>C (p.Leu1990Pro)
c.5333T>C (p.Leu1778Pro)
c.2123T>C (p.Leu708Pro)
5g.177292084T>GCA362320750NSD1c.5516T>G (p.Leu1839Arg)
c.1031T>G (p.Leu344Arg)
n.5972T>G
n.805T>G
c.6080T>G (p.Leu2027Arg)
n.5786T>G
c.6389T>G (p.Leu2130Arg)
c.5582T>G (p.Leu1861Arg)
n.531T>G
c.1883T>G (p.Leu628Arg)
c.5969T>G (p.Leu1990Arg)
c.5333T>G (p.Leu1778Arg)
c.2123T>G (p.Leu708Arg)
5g.177292085C>ACA447740757NSD1c.5517C>A (p.Leu1839=)
c.1032C>A (p.Leu344=)
n.5973C>A
n.806C>A
c.6081C>A (p.Leu2027=)
n.5787C>A
c.6390C>A (p.Leu2130=)
c.5583C>A (p.Leu1861=)
n.532C>A
c.1884C>A (p.Leu628=)
c.5970C>A (p.Leu1990=)
c.5334C>A (p.Leu1778=)
c.2124C>A (p.Leu708=)
 dbSNP
5g.177292085C=CA1603532904NSD1c.5517C= (p.Leu1839=)
c.1032C= (p.Leu344=)
n.5973C=
n.806C=
c.6081C= (p.Leu2027=)
n.5787C=
c.6390C= (p.Leu2130=)
c.5583C= (p.Leu1861=)
n.532C=
c.1884C= (p.Leu628=)
c.5970C= (p.Leu1990=)
c.5334C= (p.Leu1778=)
c.2124C= (p.Leu708=)
5g.177292085C>GCA447740758NSD1c.5517C>G (p.Leu1839=)
c.1032C>G (p.Leu344=)
n.5973C>G
n.806C>G
c.6081C>G (p.Leu2027=)
n.5787C>G
c.6390C>G (p.Leu2130=)
c.5583C>G (p.Leu1861=)
n.532C>G
c.1884C>G (p.Leu628=)
c.5970C>G (p.Leu1990=)
c.5334C>G (p.Leu1778=)
c.2124C>G (p.Leu708=)
 dbSNP gnomAD v4
5g.177292085C>TCA3577983NSD1c.5517C>T (p.Leu1839=)
c.1032C>T (p.Leu344=)
n.5973C>T
n.806C>T
c.6081C>T (p.Leu2027=)
n.5787C>T
c.6390C>T (p.Leu2130=)
c.5583C>T (p.Leu1861=)
n.532C>T
c.1884C>T (p.Leu628=)
c.5970C>T (p.Leu1990=)
c.5334C>T (p.Leu1778=)
c.2124C>T (p.Leu708=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.177292086G>ACA3577984NSD1c.5518G>A (p.Val1840Ile)
c.1033G>A (p.Val345Ile)
n.5974G>A
n.807G>A
c.6082G>A (p.Val2028Ile)
n.5788G>A
c.6391G>A (p.Val2131Ile)
c.5584G>A (p.Val1862Ile)
n.533G>A
c.1885G>A (p.Val629Ile)
c.5971G>A (p.Val1991Ile)
c.5335G>A (p.Val1779Ile)
c.2125G>A (p.Val709Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.177292086G>CCA362320758NSD1c.5518G>C (p.Val1840Leu)
c.1033G>C (p.Val345Leu)
n.5974G>C
n.807G>C
c.6082G>C (p.Val2028Leu)
n.5788G>C
c.6391G>C (p.Val2131Leu)
c.5584G>C (p.Val1862Leu)
n.533G>C
c.1885G>C (p.Val629Leu)
c.5971G>C (p.Val1991Leu)
c.5335G>C (p.Val1779Leu)
c.2125G>C (p.Val709Leu)
 dbSNP
5g.177292086G=CA1603532910NSD1c.5518G= (p.Val1840=)
c.1033G= (p.Val345=)
n.5974G=
n.807G=
c.6082G= (p.Val2028=)
n.5788G=
c.6391G= (p.Val2131=)
c.5584G= (p.Val1862=)
n.533G=
c.1885G= (p.Val629=)
c.5971G= (p.Val1991=)
c.5335G= (p.Val1779=)
c.2125G= (p.Val709=)
5g.177292086G>TCA362320761NSD1c.5518G>T (p.Val1840Phe)
c.1033G>T (p.Val345Phe)
n.5974G>T
n.807G>T
c.6082G>T (p.Val2028Phe)
n.5788G>T
c.6391G>T (p.Val2131Phe)
c.5584G>T (p.Val1862Phe)
n.533G>T
c.1885G>T (p.Val629Phe)
c.5971G>T (p.Val1991Phe)
c.5335G>T (p.Val1779Phe)
c.2125G>T (p.Val709Phe)
5g.177292086dupCA2573139468NSD1c.5518dup (p.Val1840GlyfsTer?)
c.1033dup (p.Val345GlyfsTer?)
n.5974dup
n.807dup
c.6082dup (p.Val2028GlyfsTer?)
n.5788dup
c.6391dup (p.Val2131GlyfsTer?)
c.5584dup (p.Val1862GlyfsTer?)
n.533dup
c.1885dup (p.Val629GlyfsTer?)
c.5971dup (p.Val1991GlyfsTer?)
c.5335dup (p.Val1779GlyfsTer?)
c.2125dup (p.Val709GlyfsTer?)
 ClinVar dbSNP
5g.177292087T>ACA362320767NSD1c.5519T>A (p.Val1840Asp)
c.1034T>A (p.Val345Asp)
n.5975T>A
n.808T>A
c.6083T>A (p.Val2028Asp)
n.5789T>A
c.6392T>A (p.Val2131Asp)
c.5585T>A (p.Val1862Asp)
n.534T>A
c.1886T>A (p.Val629Asp)
c.5972T>A (p.Val1991Asp)
c.5336T>A (p.Val1779Asp)
c.2126T>A (p.Val709Asp)
5g.177292087T>CCA362320769NSD1c.5519T>C (p.Val1840Ala)
c.1034T>C (p.Val345Ala)
n.5975T>C
n.808T>C
c.6083T>C (p.Val2028Ala)
n.5789T>C
c.6392T>C (p.Val2131Ala)
c.5585T>C (p.Val1862Ala)
n.534T>C
c.1886T>C (p.Val629Ala)
c.5972T>C (p.Val1991Ala)
c.5336T>C (p.Val1779Ala)
c.2126T>C (p.Val709Ala)
5g.177292087T>GCA362320763NSD1c.5519T>G (p.Val1840Gly)
c.1034T>G (p.Val345Gly)
n.5975T>G
n.808T>G
c.6083T>G (p.Val2028Gly)
n.5789T>G
c.6392T>G (p.Val2131Gly)
c.5585T>G (p.Val1862Gly)
n.534T>G
c.1886T>G (p.Val629Gly)
c.5972T>G (p.Val1991Gly)
c.5336T>G (p.Val1779Gly)
c.2126T>G (p.Val709Gly)
5g.177292088C>ACA447740759NSD1c.5520C>A (p.Val1840=)
c.1035C>A (p.Val345=)
n.5976C>A
n.809C>A
c.6084C>A (p.Val2028=)
n.5790C>A
c.6393C>A (p.Val2131=)
c.5586C>A (p.Val1862=)
n.535C>A
c.1887C>A (p.Val629=)
c.5973C>A (p.Val1991=)
c.5337C>A (p.Val1779=)
c.2127C>A (p.Val709=)
5g.177292088C=CA1603532915NSD1c.5520C= (p.Val1840=)
c.1035C= (p.Val345=)
n.5976C=
n.809C=
c.6084C= (p.Val2028=)
n.5790C=
c.6393C= (p.Val2131=)
c.5586C= (p.Val1862=)
n.535C=
c.1887C= (p.Val629=)
c.5973C= (p.Val1991=)
c.5337C= (p.Val1779=)
c.2127C= (p.Val709=)
5g.177292088C>GCA172843NSD1c.5520C>G (p.Val1840=)
c.1035C>G (p.Val345=)
n.5976C>G
n.809C>G
c.6084C>G (p.Val2028=)
n.5790C>G
c.6393C>G (p.Val2131=)
c.5586C>G (p.Val1862=)
n.535C>G
c.1887C>G (p.Val629=)
c.5973C>G (p.Val1991=)
c.5337C>G (p.Val1779=)
c.2127C>G (p.Val709=)
 ClinVar dbSNP
5g.177292088C>TCA447740760NSD1c.5520C>T (p.Val1840=)
c.1035C>T (p.Val345=)
n.5976C>T
n.809C>T
c.6084C>T (p.Val2028=)
n.5790C>T
c.6393C>T (p.Val2131=)
c.5586C>T (p.Val1862=)
n.535C>T
c.1887C>T (p.Val629=)
c.5973C>T (p.Val1991=)
c.5337C>T (p.Val1779=)
c.2127C>T (p.Val709=)
5g.177292089T>ACA362320774NSD1c.5521T>A (p.Ser1841Thr)
c.1036T>A (p.Ser346Thr)
n.5977T>A
n.810T>A
c.6085T>A (p.Ser2029Thr)
n.5791T>A
c.6394T>A (p.Ser2132Thr)
c.5587T>A (p.Ser1863Thr)
n.536T>A
c.1888T>A (p.Ser630Thr)
c.5974T>A (p.Ser1992Thr)
c.5338T>A (p.Ser1780Thr)
c.2128T>A (p.Ser710Thr)
5g.177292089T>CCA362320777NSD1c.5521T>C (p.Ser1841Pro)
c.1036T>C (p.Ser346Pro)
n.5977T>C
n.810T>C
c.6085T>C (p.Ser2029Pro)
n.5791T>C
c.6394T>C (p.Ser2132Pro)
c.5587T>C (p.Ser1863Pro)
n.536T>C
c.1888T>C (p.Ser630Pro)
c.5974T>C (p.Ser1992Pro)
c.5338T>C (p.Ser1780Pro)
c.2128T>C (p.Ser710Pro)
5g.177292089T>GCA362320779NSD1c.5521T>G (p.Ser1841Ala)
c.1036T>G (p.Ser346Ala)
n.5977T>G
n.810T>G
c.6085T>G (p.Ser2029Ala)
n.5791T>G
c.6394T>G (p.Ser2132Ala)
c.5587T>G (p.Ser1863Ala)
n.536T>G
c.1888T>G (p.Ser630Ala)
c.5974T>G (p.Ser1992Ala)
c.5338T>G (p.Ser1780Ala)
c.2128T>G (p.Ser710Ala)
5g.177292089dupCA2676691932NSD1c.5521dup (p.Ser1841PhefsTer?)
c.1036dup (p.Ser346PhefsTer?)
n.5977dup
n.810dup
c.6085dup (p.Ser2029PhefsTer?)
n.5791dup
c.6394dup (p.Ser2132PhefsTer?)
c.5587dup (p.Ser1863PhefsTer?)
n.536dup
c.1888dup (p.Ser630PhefsTer?)
c.5974dup (p.Ser1992PhefsTer?)
c.5338dup (p.Ser1780PhefsTer?)
c.2128dup (p.Ser710PhefsTer?)
 gnomAD v4
5g.177292090C>ACA132861378NSD1c.5522C>A (p.Ser1841Tyr)
c.1037C>A (p.Ser346Tyr)
n.5978C>A
n.811C>A
c.6086C>A (p.Ser2029Tyr)
n.5792C>A
c.6395C>A (p.Ser2132Tyr)
c.5588C>A (p.Ser1863Tyr)
n.537C>A
c.1889C>A (p.Ser630Tyr)
c.5975C>A (p.Ser1992Tyr)
c.5339C>A (p.Ser1780Tyr)
c.2129C>A (p.Ser710Tyr)
 dbSNP
5g.177292090C=CA1603532921NSD1c.5522C= (p.Ser1841=)
c.1037C= (p.Ser346=)
n.5978C=
n.811C=
c.6086C= (p.Ser2029=)
n.5792C=
c.6395C= (p.Ser2132=)
c.5588C= (p.Ser1863=)
n.537C=
c.1889C= (p.Ser630=)
c.5975C= (p.Ser1992=)
c.5339C= (p.Ser1780=)
c.2129C= (p.Ser710=)
5g.177292090C>GCA362320782NSD1c.5522C>G (p.Ser1841Cys)
c.1037C>G (p.Ser346Cys)
n.5978C>G
n.811C>G
c.6086C>G (p.Ser2029Cys)
n.5792C>G
c.6395C>G (p.Ser2132Cys)
c.5588C>G (p.Ser1863Cys)
n.537C>G
c.1889C>G (p.Ser630Cys)
c.5975C>G (p.Ser1992Cys)
c.5339C>G (p.Ser1780Cys)
c.2129C>G (p.Ser710Cys)
5g.177292090C>TCA362320785NSD1c.5522C>T (p.Ser1841Phe)
c.1037C>T (p.Ser346Phe)
n.5978C>T
n.811C>T
c.6086C>T (p.Ser2029Phe)
n.5792C>T
c.6395C>T (p.Ser2132Phe)
c.5588C>T (p.Ser1863Phe)
n.537C>T
c.1889C>T (p.Ser630Phe)
c.5975C>T (p.Ser1992Phe)
c.5339C>T (p.Ser1780Phe)
c.2129C>T (p.Ser710Phe)
 gnomAD v4
5g.177292091C>ACA447740761NSD1c.5523C>A (p.Ser1841=)
c.1038C>A (p.Ser346=)
n.5979C>A
n.812C>A
c.6087C>A (p.Ser2029=)
n.5793C>A
c.6396C>A (p.Ser2132=)
c.5589C>A (p.Ser1863=)
n.538C>A
c.1890C>A (p.Ser630=)
c.5976C>A (p.Ser1992=)
c.5340C>A (p.Ser1780=)
c.2130C>A (p.Ser710=)
5g.177292091C>GCA447740762NSD1c.5523C>G (p.Ser1841=)
c.1038C>G (p.Ser346=)
n.5979C>G
n.812C>G
c.6087C>G (p.Ser2029=)
n.5793C>G
c.6396C>G (p.Ser2132=)
c.5589C>G (p.Ser1863=)
n.538C>G
c.1890C>G (p.Ser630=)
c.5976C>G (p.Ser1992=)
c.5340C>G (p.Ser1780=)
c.2130C>G (p.Ser710=)
5g.177292091C>TCA447740763NSD1c.5523C>T (p.Ser1841=)
c.1038C>T (p.Ser346=)
n.5979C>T
n.812C>T
c.6087C>T (p.Ser2029=)
n.5793C>T
c.6396C>T (p.Ser2132=)
c.5589C>T (p.Ser1863=)
n.538C>T
c.1890C>T (p.Ser630=)
c.5976C>T (p.Ser1992=)
c.5340C>T (p.Ser1780=)
c.2130C>T (p.Ser710=)
 gnomAD v4
5g.177292092T>ACA362320788NSD1c.5524T>A (p.Cys1842Ser)
c.1039T>A (p.Cys347Ser)
n.5980T>A
n.813T>A
c.6088T>A (p.Cys2030Ser)
n.5794T>A
c.6397T>A (p.Cys2133Ser)
c.5590T>A (p.Cys1864Ser)
n.539T>A
c.1891T>A (p.Cys631Ser)
c.5977T>A (p.Cys1993Ser)
c.5341T>A (p.Cys1781Ser)
c.2131T>A (p.Cys711Ser)
5g.177292092T>CCA362320789NSD1c.5524T>C (p.Cys1842Arg)
c.1039T>C (p.Cys347Arg)
n.5980T>C
n.813T>C
c.6088T>C (p.Cys2030Arg)
n.5794T>C
c.6397T>C (p.Cys2133Arg)
c.5590T>C (p.Cys1864Arg)
n.539T>C
c.1891T>C (p.Cys631Arg)
c.5977T>C (p.Cys1993Arg)
c.5341T>C (p.Cys1781Arg)
c.2131T>C (p.Cys711Arg)
 ClinVar
5g.177292092T>GCA362320791NSD1c.5524T>G (p.Cys1842Gly)
c.1039T>G (p.Cys347Gly)
n.5980T>G
n.813T>G
c.6088T>G (p.Cys2030Gly)
n.5794T>G
c.6397T>G (p.Cys2133Gly)
c.5590T>G (p.Cys1864Gly)
n.539T>G
c.1891T>G (p.Cys631Gly)
c.5977T>G (p.Cys1993Gly)
c.5341T>G (p.Cys1781Gly)
c.2131T>G (p.Cys711Gly)
5g.177292093G>ACA362320794NSD1c.5525G>A (p.Cys1842Tyr)
c.1040G>A (p.Cys347Tyr)
n.5981G>A
n.814G>A
c.6089G>A (p.Cys2030Tyr)
n.5795G>A
c.6398G>A (p.Cys2133Tyr)
c.5591G>A (p.Cys1864Tyr)
n.540G>A
c.1892G>A (p.Cys631Tyr)
c.5978G>A (p.Cys1993Tyr)
c.5342G>A (p.Cys1781Tyr)
c.2132G>A (p.Cys711Tyr)
 dbSNP
5g.177292093G>CCA362320797NSD1c.5525G>C (p.Cys1842Ser)
c.1040G>C (p.Cys347Ser)
n.5981G>C
n.814G>C
c.6089G>C (p.Cys2030Ser)
n.5795G>C
c.6398G>C (p.Cys2133Ser)
c.5591G>C (p.Cys1864Ser)
n.540G>C
c.1892G>C (p.Cys631Ser)
c.5978G>C (p.Cys1993Ser)
c.5342G>C (p.Cys1781Ser)
c.2132G>C (p.Cys711Ser)
5g.177292093G>TCA362320798NSD1c.5525G>T (p.Cys1842Phe)
c.1040G>T (p.Cys347Phe)
n.5981G>T
n.814G>T
c.6089G>T (p.Cys2030Phe)
n.5795G>T
c.6398G>T (p.Cys2133Phe)
c.5591G>T (p.Cys1864Phe)
n.540G>T
c.1892G>T (p.Cys631Phe)
c.5978G>T (p.Cys1993Phe)
c.5342G>T (p.Cys1781Phe)
c.2132G>T (p.Cys711Phe)
5g.177292094C>ACA362320803NSD1c.5526C>A (p.Cys1842Ter)
c.1041C>A (p.Cys347Ter)
n.5982C>A
n.815C>A
c.6090C>A (p.Cys2030Ter)
n.5796C>A
c.6399C>A (p.Cys2133Ter)
c.5592C>A (p.Cys1864Ter)
n.541C>A
c.1893C>A (p.Cys631Ter)
c.5979C>A (p.Cys1993Ter)
c.5343C>A (p.Cys1781Ter)
c.2133C>A (p.Cys711Ter)
5g.177292094C>GCA362320805NSD1c.5526C>G (p.Cys1842Trp)
c.1041C>G (p.Cys347Trp)
n.5982C>G
n.815C>G
c.6090C>G (p.Cys2030Trp)
n.5796C>G
c.6399C>G (p.Cys2133Trp)
c.5592C>G (p.Cys1864Trp)
n.541C>G
c.1893C>G (p.Cys631Trp)
c.5979C>G (p.Cys1993Trp)
c.5343C>G (p.Cys1781Trp)
c.2133C>G (p.Cys711Trp)
5g.177292094C>TCA447740764NSD1c.5526C>T (p.Cys1842=)
c.1041C>T (p.Cys347=)
n.5982C>T
n.815C>T
c.6090C>T (p.Cys2030=)
n.5796C>T
c.6399C>T (p.Cys2133=)
c.5592C>T (p.Cys1864=)
n.541C>T
c.1893C>T (p.Cys631=)
c.5979C>T (p.Cys1993=)
c.5343C>T (p.Cys1781=)
c.2133C>T (p.Cys711=)
 dbSNP
5g.177292095A>CCA362320808NSD1c.5527A>C (p.Lys1843Gln)
c.1042A>C (p.Lys348Gln)
n.5983A>C
n.816A>C
c.6091A>C (p.Lys2031Gln)
n.5797A>C
c.6400A>C (p.Lys2134Gln)
c.5593A>C (p.Lys1865Gln)
n.542A>C
c.1894A>C (p.Lys632Gln)
c.5980A>C (p.Lys1994Gln)
c.5344A>C (p.Lys1782Gln)
c.2134A>C (p.Lys712Gln)
5g.177292095A>GCA362320811NSD1c.5527A>G (p.Lys1843Glu)
c.1042A>G (p.Lys348Glu)
n.5983A>G
n.816A>G
c.6091A>G (p.Lys2031Glu)
n.5797A>G
c.6400A>G (p.Lys2134Glu)
c.5593A>G (p.Lys1865Glu)
n.542A>G
c.1894A>G (p.Lys632Glu)
c.5980A>G (p.Lys1994Glu)
c.5344A>G (p.Lys1782Glu)
c.2134A>G (p.Lys712Glu)
5g.177292095A>TCA362320814NSD1c.5527A>T (p.Lys1843Ter)
c.1042A>T (p.Lys348Ter)
n.5983A>T
n.816A>T
c.6091A>T (p.Lys2031Ter)
n.5797A>T
c.6400A>T (p.Lys2134Ter)
c.5593A>T (p.Lys1865Ter)
n.542A>T
c.1894A>T (p.Lys632Ter)
c.5980A>T (p.Lys1994Ter)
c.5344A>T (p.Lys1782Ter)
c.2134A>T (p.Lys712Ter)
5g.177292096A>CCA362320818NSD1c.5528A>C (p.Lys1843Thr)
c.1043A>C (p.Lys348Thr)
n.5984A>C
n.817A>C
c.6092A>C (p.Lys2031Thr)
n.5798A>C
c.6401A>C (p.Lys2134Thr)
c.5594A>C (p.Lys1865Thr)
n.543A>C
c.1895A>C (p.Lys632Thr)
c.5981A>C (p.Lys1994Thr)
c.5345A>C (p.Lys1782Thr)
c.2135A>C (p.Lys712Thr)
5g.177292096A>GCA362320820NSD1c.5528A>G (p.Lys1843Arg)
c.1043A>G (p.Lys348Arg)
n.5984A>G
n.817A>G
c.6092A>G (p.Lys2031Arg)
n.5798A>G
c.6401A>G (p.Lys2134Arg)
c.5594A>G (p.Lys1865Arg)
n.543A>G
c.1895A>G (p.Lys632Arg)
c.5981A>G (p.Lys1994Arg)
c.5345A>G (p.Lys1782Arg)
c.2135A>G (p.Lys712Arg)
5g.177292096A>TCA362320823NSD1c.5528A>T (p.Lys1843Met)
c.1043A>T (p.Lys348Met)
n.5984A>T
n.817A>T
c.6092A>T (p.Lys2031Met)
n.5798A>T
c.6401A>T (p.Lys2134Met)
c.5594A>T (p.Lys1865Met)
n.543A>T
c.1895A>T (p.Lys632Met)
c.5981A>T (p.Lys1994Met)
c.5345A>T (p.Lys1782Met)
c.2135A>T (p.Lys712Met)
5g.177292097G>ACA447740765NSD1c.5529G>A (p.Lys1843=)
c.1044G>A (p.Lys348=)
n.5985G>A
n.818G>A
c.6093G>A (p.Lys2031=)
n.5799G>A
c.6402G>A (p.Lys2134=)
c.5595G>A (p.Lys1865=)
n.544G>A
c.1896G>A (p.Lys632=)
c.5982G>A (p.Lys1994=)
c.5346G>A (p.Lys1782=)
c.2136G>A (p.Lys712=)
 dbSNP
5g.177292097G>CCA362320825NSD1c.5529G>C (p.Lys1843Asn)
c.1044G>C (p.Lys348Asn)
n.5985G>C
n.818G>C
c.6093G>C (p.Lys2031Asn)
n.5799G>C
c.6402G>C (p.Lys2134Asn)
c.5595G>C (p.Lys1865Asn)
n.544G>C
c.1896G>C (p.Lys632Asn)
c.5982G>C (p.Lys1994Asn)
c.5346G>C (p.Lys1782Asn)
c.2136G>C (p.Lys712Asn)
 dbSNP
5g.177292097G>TCA362320828NSD1c.5529G>T (p.Lys1843Asn)
c.1044G>T (p.Lys348Asn)
n.5985G>T
n.818G>T
c.6093G>T (p.Lys2031Asn)
n.5799G>T
c.6402G>T (p.Lys2134Asn)
c.5595G>T (p.Lys1865Asn)
n.544G>T
c.1896G>T (p.Lys632Asn)
c.5982G>T (p.Lys1994Asn)
c.5346G>T (p.Lys1782Asn)
c.2136G>T (p.Lys712Asn)
5g.177292098A>CCA362320832NSD1c.5530A>C (p.Lys1844Gln)
c.1045A>C (p.Lys349Gln)
n.5986A>C
n.819A>C
c.6094A>C (p.Lys2032Gln)
n.5800A>C
c.6403A>C (p.Lys2135Gln)
c.5596A>C (p.Lys1866Gln)
n.545A>C
c.1897A>C (p.Lys633Gln)
c.5983A>C (p.Lys1995Gln)
c.5347A>C (p.Lys1783Gln)
c.2137A>C (p.Lys713Gln)
5g.177292098A>GCA362320835NSD1c.5530A>G (p.Lys1844Glu)
c.1045A>G (p.Lys349Glu)
n.5986A>G
n.819A>G
c.6094A>G (p.Lys2032Glu)
n.5800A>G
c.6403A>G (p.Lys2135Glu)
c.5596A>G (p.Lys1866Glu)
n.545A>G
c.1897A>G (p.Lys633Glu)
c.5983A>G (p.Lys1995Glu)
c.5347A>G (p.Lys1783Glu)
c.2137A>G (p.Lys713Glu)
5g.177292098A>TCA362320837NSD1c.5530A>T (p.Lys1844Ter)
c.1045A>T (p.Lys349Ter)
n.5986A>T
n.819A>T
c.6094A>T (p.Lys2032Ter)
n.5800A>T
c.6403A>T (p.Lys2135Ter)
c.5596A>T (p.Lys1866Ter)
n.545A>T
c.1897A>T (p.Lys633Ter)
c.5983A>T (p.Lys1995Ter)
c.5347A>T (p.Lys1783Ter)
c.2137A>T (p.Lys713Ter)
5g.177292100dupCA2695205740NSD1c.5532dup (p.Pro1845ThrfsTer30)
c.1047dup (p.Pro350ThrfsTer30)
n.5988dup
n.821dup
c.6096dup (p.Pro2033ThrfsTer30)
n.5802dup
c.6405dup (p.Pro2136ThrfsTer30)
c.5598dup (p.Pro1867ThrfsTer30)
n.547dup
c.1899dup (p.Pro634ThrfsTer30)
c.5985dup (p.Pro1996ThrfsTer30)
c.5349dup (p.Pro1784ThrfsTer30)
c.2139dup (p.Pro714ThrfsTer30)
5g.177292098_177292103delCA891841970NSD1c.5530_5535del (p.Lys1844_Pro1845del)
c.1045_1050del (p.Lys349_Pro350del)
n.5986_5991del
n.819_824del
c.6094_6099del (p.Lys2032_Pro2033del)
n.5800_5805del
c.6403_6408del (p.Lys2135_Pro2136del)
c.5596_5601del (p.Lys1866_Pro1867del)
n.545_550del
c.1897_1902del (p.Lys633_Pro634del)
c.5983_5988del (p.Lys1995_Pro1996del)
c.5347_5352del (p.Lys1783_Pro1784del)
c.2137_2142del (p.Lys713_Pro714del)
5g.177292098_177292099insTCA2695205741NSD1c.5530_5531insT (p.Lys1844IlefsTer?)
c.1045_1046insT (p.Lys349IlefsTer?)
n.5986_5987insT
n.819_820insT
c.6094_6095insT (p.Lys2032IlefsTer?)
n.5800_5801insT
c.6403_6404insT (p.Lys2135IlefsTer?)
c.5596_5597insT (p.Lys1866IlefsTer?)
n.545_546insT
c.1897_1898insT (p.Lys633IlefsTer?)
c.5983_5984insT (p.Lys1995IlefsTer?)
c.5347_5348insT (p.Lys1783IlefsTer?)
c.2137_2138insT (p.Lys713IlefsTer?)
5g.177292099A>CCA362320844NSD1c.5531A>C (p.Lys1844Thr)
c.1046A>C (p.Lys349Thr)
n.5987A>C
n.820A>C
c.6095A>C (p.Lys2032Thr)
n.5801A>C
c.6404A>C (p.Lys2135Thr)
c.5597A>C (p.Lys1866Thr)
n.546A>C
c.1898A>C (p.Lys633Thr)
c.5984A>C (p.Lys1995Thr)
c.5348A>C (p.Lys1783Thr)
c.2138A>C (p.Lys713Thr)
5g.177292099A>GCA362320846NSD1c.5531A>G (p.Lys1844Arg)
c.1046A>G (p.Lys349Arg)
n.5987A>G
n.820A>G
c.6095A>G (p.Lys2032Arg)
n.5801A>G
c.6404A>G (p.Lys2135Arg)
c.5597A>G (p.Lys1866Arg)
n.546A>G
c.1898A>G (p.Lys633Arg)
c.5984A>G (p.Lys1995Arg)
c.5348A>G (p.Lys1783Arg)
c.2138A>G (p.Lys713Arg)
5g.177292099A>TCA362320841NSD1c.5531A>T (p.Lys1844Ile)
c.1046A>T (p.Lys349Ile)
n.5987A>T
n.820A>T
c.6095A>T (p.Lys2032Ile)
n.5801A>T
c.6404A>T (p.Lys2135Ile)
c.5597A>T (p.Lys1866Ile)
n.546A>T
c.1898A>T (p.Lys633Ile)
c.5984A>T (p.Lys1995Ile)
c.5348A>T (p.Lys1783Ile)
c.2138A>T (p.Lys713Ile)
5g.177292100A=CA1603532928NSD1c.5532A= (p.Lys1844=)
c.1047A= (p.Lys349=)
n.5988A=
n.821A=
c.6096A= (p.Lys2032=)
n.5802A=
c.6405A= (p.Lys2135=)
c.5598A= (p.Lys1866=)
n.547A=
c.1899A= (p.Lys633=)
c.5985A= (p.Lys1995=)
c.5349A= (p.Lys1783=)
c.2139A= (p.Lys713=)
5g.177292100A>CCA362320852NSD1c.5532A>C (p.Lys1844Asn)
c.1047A>C (p.Lys349Asn)
n.5988A>C
n.821A>C
c.6096A>C (p.Lys2032Asn)
n.5802A>C
c.6405A>C (p.Lys2135Asn)
c.5598A>C (p.Lys1866Asn)
n.547A>C
c.1899A>C (p.Lys633Asn)
c.5985A>C (p.Lys1995Asn)
c.5349A>C (p.Lys1783Asn)
c.2139A>C (p.Lys713Asn)
5g.177292100A>GCA132861379NSD1c.5532A>G (p.Lys1844=)
c.1047A>G (p.Lys349=)
n.5988A>G
n.821A>G
c.6096A>G (p.Lys2032=)
n.5802A>G
c.6405A>G (p.Lys2135=)
c.5598A>G (p.Lys1866=)
n.547A>G
c.1899A>G (p.Lys633=)
c.5985A>G (p.Lys1995=)
c.5349A>G (p.Lys1783=)
c.2139A>G (p.Lys713=)
 dbSNP
5g.177292100A>TCA362320850NSD1c.5532A>T (p.Lys1844Asn)
c.1047A>T (p.Lys349Asn)
n.5988A>T
n.821A>T
c.6096A>T (p.Lys2032Asn)
n.5802A>T
c.6405A>T (p.Lys2135Asn)
c.5598A>T (p.Lys1866Asn)
n.547A>T
c.1899A>T (p.Lys633Asn)
c.5985A>T (p.Lys1995Asn)
c.5349A>T (p.Lys1783Asn)
c.2139A>T (p.Lys713Asn)
5g.177292101C>ACA362320855NSD1c.5533C>A (p.Pro1845Thr)
c.1048C>A (p.Pro350Thr)
n.5989C>A
n.822C>A
c.6097C>A (p.Pro2033Thr)
n.5803C>A
c.6406C>A (p.Pro2136Thr)
c.5599C>A (p.Pro1867Thr)
n.548C>A
c.1900C>A (p.Pro634Thr)
c.5986C>A (p.Pro1996Thr)
c.5350C>A (p.Pro1784Thr)
c.2140C>A (p.Pro714Thr)
 dbSNP
5g.177292101C=CA1603532930NSD1c.5533C= (p.Pro1845=)
c.1048C= (p.Pro350=)
n.5989C=
n.822C=
c.6097C= (p.Pro2033=)
n.5803C=
c.6406C= (p.Pro2136=)
c.5599C= (p.Pro1867=)
n.548C=
c.1900C= (p.Pro634=)
c.5986C= (p.Pro1996=)
c.5350C= (p.Pro1784=)
c.2140C= (p.Pro714=)
5g.177292101C>GCA362320858NSD1c.5533C>G (p.Pro1845Ala)
c.1048C>G (p.Pro350Ala)
n.5989C>G
n.822C>G
c.6097C>G (p.Pro2033Ala)
n.5803C>G
c.6406C>G (p.Pro2136Ala)
c.5599C>G (p.Pro1867Ala)
n.548C>G
c.1900C>G (p.Pro634Ala)
c.5986C>G (p.Pro1996Ala)
c.5350C>G (p.Pro1784Ala)
c.2140C>G (p.Pro714Ala)
5g.177292101C>TCA3577985NSD1c.5533C>T (p.Pro1845Ser)
c.1048C>T (p.Pro350Ser)
n.5989C>T
n.822C>T
c.6097C>T (p.Pro2033Ser)
n.5803C>T
c.6406C>T (p.Pro2136Ser)
c.5599C>T (p.Pro1867Ser)
n.548C>T
c.1900C>T (p.Pro634Ser)
c.5986C>T (p.Pro1996Ser)
c.5350C>T (p.Pro1784Ser)
c.2140C>T (p.Pro714Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.177292101_177292102insACCAAACACACCCAACACA2769562743NSD1c.5533_5534insACCAAACACACCCAACA (p.Pro1845HisfsTer20)
c.1048_1049insACCAAACACACCCAACA (p.Pro350HisfsTer20)
n.5989_5990insACCAAACACACCCAACA
n.822_823insACCAAACACACCCAACA
c.6097_6098insACCAAACACACCCAACA (p.Pro2033HisfsTer20)
n.5803_5804insACCAAACACACCCAACA
c.6406_6407insACCAAACACACCCAACA (p.Pro2136HisfsTer20)
c.5599_5600insACCAAACACACCCAACA (p.Pro1867HisfsTer20)
n.548_549insACCAAACACACCCAACA
c.1900_1901insACCAAACACACCCAACA (p.Pro634HisfsTer20)
c.5986_5987insACCAAACACACCCAACA (p.Pro1996HisfsTer20)
c.5350_5351insACCAAACACACCCAACA (p.Pro1784HisfsTer20)
c.2140_2141insACCAAACACACCCAACA (p.Pro714HisfsTer20)
5g.177292102C>ACA362320862NSD1c.5534C>A (p.Pro1845Gln)
c.1049C>A (p.Pro350Gln)
n.5990C>A
n.823C>A
c.6098C>A (p.Pro2033Gln)
n.5804C>A
c.6407C>A (p.Pro2136Gln)
c.5600C>A (p.Pro1867Gln)
n.549C>A
c.1901C>A (p.Pro634Gln)
c.5987C>A (p.Pro1996Gln)
c.5351C>A (p.Pro1784Gln)
c.2141C>A (p.Pro714Gln)
5g.177292102C>GCA362320865NSD1c.5534C>G (p.Pro1845Arg)
c.1049C>G (p.Pro350Arg)
n.5990C>G
n.823C>G
c.6098C>G (p.Pro2033Arg)
n.5804C>G
c.6407C>G (p.Pro2136Arg)
c.5600C>G (p.Pro1867Arg)
n.549C>G
c.1901C>G (p.Pro634Arg)
c.5987C>G (p.Pro1996Arg)
c.5351C>G (p.Pro1784Arg)
c.2141C>G (p.Pro714Arg)
 gnomAD v4
5g.177292102C>TCA362320867NSD1c.5534C>T (p.Pro1845Leu)
c.1049C>T (p.Pro350Leu)
n.5990C>T
n.823C>T
c.6098C>T (p.Pro2033Leu)
n.5804C>T
c.6407C>T (p.Pro2136Leu)
c.5600C>T (p.Pro1867Leu)
n.549C>T
c.1901C>T (p.Pro634Leu)
c.5987C>T (p.Pro1996Leu)
c.5351C>T (p.Pro1784Leu)
c.2141C>T (p.Pro714Leu)
5g.177292103A=CA1603532933NSD1c.5535A= (p.Pro1845=)
c.1050A= (p.Pro350=)
n.5991A=
n.824A=
c.6099A= (p.Pro2033=)
n.5805A=
c.6408A= (p.Pro2136=)
c.5601A= (p.Pro1867=)
n.550A=
c.1902A= (p.Pro634=)
c.5988A= (p.Pro1996=)
c.5352A= (p.Pro1784=)
c.2142A= (p.Pro714=)
5g.177292103A>CCA447740766NSD1c.5535A>C (p.Pro1845=)
c.1050A>C (p.Pro350=)
n.5991A>C
n.824A>C
c.6099A>C (p.Pro2033=)
n.5805A>C
c.6408A>C (p.Pro2136=)
c.5601A>C (p.Pro1867=)
n.550A>C
c.1902A>C (p.Pro634=)
c.5988A>C (p.Pro1996=)
c.5352A>C (p.Pro1784=)
c.2142A>C (p.Pro714=)
5g.177292103A>GCA3577986NSD1c.5535A>G (p.Pro1845=)
c.1050A>G (p.Pro350=)
n.5991A>G
n.824A>G
c.6099A>G (p.Pro2033=)
n.5805A>G
c.6408A>G (p.Pro2136=)
c.5601A>G (p.Pro1867=)
n.550A>G
c.1902A>G (p.Pro634=)
c.5988A>G (p.Pro1996=)
c.5352A>G (p.Pro1784=)
c.2142A>G (p.Pro714=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.177292103A>TCA447740767NSD1c.5535A>T (p.Pro1845=)
c.1050A>T (p.Pro350=)
n.5991A>T
n.824A>T
c.6099A>T (p.Pro2033=)
n.5805A>T
c.6408A>T (p.Pro2136=)
c.5601A>T (p.Pro1867=)
n.550A>T
c.1902A>T (p.Pro634=)
c.5988A>T (p.Pro1996=)
c.5352A>T (p.Pro1784=)
c.2142A>T (p.Pro714=)
5g.177292104G>ACA362320872NSD1c.5536G>A (p.Gly1846Ser)
c.1051G>A (p.Gly351Ser)
n.5992G>A
n.825G>A
c.6100G>A (p.Gly2034Ser)
n.5806G>A
c.6409G>A (p.Gly2137Ser)
c.5602G>A (p.Gly1868Ser)
n.551G>A
c.1903G>A (p.Gly635Ser)
c.5989G>A (p.Gly1997Ser)
c.5353G>A (p.Gly1785Ser)
c.2143G>A (p.Gly715Ser)
5g.177292104G>CCA362320874NSD1c.5536G>C (p.Gly1846Arg)
c.1051G>C (p.Gly351Arg)
n.5992G>C
n.825G>C
c.6100G>C (p.Gly2034Arg)
n.5806G>C
c.6409G>C (p.Gly2137Arg)
c.5602G>C (p.Gly1868Arg)
n.551G>C
c.1903G>C (p.Gly635Arg)
c.5989G>C (p.Gly1997Arg)
c.5353G>C (p.Gly1785Arg)
c.2143G>C (p.Gly715Arg)
5g.177292104G>TCA362320875NSD1c.5536G>T (p.Gly1846Cys)
c.1051G>T (p.Gly351Cys)
n.5992G>T
n.825G>T
c.6100G>T (p.Gly2034Cys)
n.5806G>T
c.6409G>T (p.Gly2137Cys)
c.5602G>T (p.Gly1868Cys)
n.551G>T
c.1903G>T (p.Gly635Cys)
c.5989G>T (p.Gly1997Cys)
c.5353G>T (p.Gly1785Cys)
c.2143G>T (p.Gly715Cys)
5g.177292105G>ACA362320878NSD1c.5537G>A (p.Gly1846Asp)
c.1052G>A (p.Gly351Asp)
n.5993G>A
n.826G>A
c.6101G>A (p.Gly2034Asp)
n.5807G>A
c.6410G>A (p.Gly2137Asp)
c.5603G>A (p.Gly1868Asp)
n.552G>A
c.1904G>A (p.Gly635Asp)
c.5990G>A (p.Gly1997Asp)
c.5354G>A (p.Gly1785Asp)
c.2144G>A (p.Gly715Asp)
5g.177292105G>CCA362320880NSD1c.5537G>C (p.Gly1846Ala)
c.1052G>C (p.Gly351Ala)
n.5993G>C
n.826G>C
c.6101G>C (p.Gly2034Ala)
n.5807G>C
c.6410G>C (p.Gly2137Ala)
c.5603G>C (p.Gly1868Ala)
n.552G>C
c.1904G>C (p.Gly635Ala)
c.5990G>C (p.Gly1997Ala)
c.5354G>C (p.Gly1785Ala)
c.2144G>C (p.Gly715Ala)
 dbSNP
5g.177292105G>TCA362320883NSD1c.5537G>T (p.Gly1846Val)
c.1052G>T (p.Gly351Val)
n.5993G>T
n.826G>T
c.6101G>T (p.Gly2034Val)
n.5807G>T
c.6410G>T (p.Gly2137Val)
c.5603G>T (p.Gly1868Val)
n.552G>T
c.1904G>T (p.Gly635Val)
c.5990G>T (p.Gly1997Val)
c.5354G>T (p.Gly1785Val)
c.2144G>T (p.Gly715Val)
5g.177292106C>ACA447740768NSD1c.5538C>A (p.Gly1846=)
c.1053C>A (p.Gly351=)
n.5994C>A
n.827C>A
c.6102C>A (p.Gly2034=)
n.5808C>A
c.6411C>A (p.Gly2137=)
c.5604C>A (p.Gly1868=)
n.553C>A
c.1905C>A (p.Gly635=)
c.5991C>A (p.Gly1997=)
c.5355C>A (p.Gly1785=)
c.2145C>A (p.Gly715=)
5g.177292106C>GCA447740770NSD1c.5538C>G (p.Gly1846=)
c.1053C>G (p.Gly351=)
n.5994C>G
n.827C>G
c.6102C>G (p.Gly2034=)
n.5808C>G
c.6411C>G (p.Gly2137=)
c.5604C>G (p.Gly1868=)
n.553C>G
c.1905C>G (p.Gly635=)
c.5991C>G (p.Gly1997=)
c.5355C>G (p.Gly1785=)
c.2145C>G (p.Gly715=)
5g.177292106C>TCA447740769NSD1c.5538C>T (p.Gly1846=)
c.1053C>T (p.Gly351=)
n.5994C>T
n.827C>T
c.6102C>T (p.Gly2034=)
n.5808C>T
c.6411C>T (p.Gly2137=)
c.5604C>T (p.Gly1868=)
n.553C>T
c.1905C>T (p.Gly635=)
c.5991C>T (p.Gly1997=)
c.5355C>T (p.Gly1785=)
c.2145C>T (p.Gly715=)
 dbSNP
5g.177292106_177292107delCA891841972NSD1c.5538_5539del (p.Cys1847ProfsTer27)
c.1053_1054del (p.Cys352ProfsTer27)
n.5994_5995del
n.827_828del
c.6102_6103del (p.Cys2035ProfsTer27)
n.5808_5809del
c.6411_6412del (p.Cys2138ProfsTer27)
c.5604_5605del (p.Cys1869ProfsTer27)
n.553_554del
c.1905_1906del (p.Cys636ProfsTer27)
c.5991_5992del (p.Cys1998ProfsTer27)
c.5355_5356del (p.Cys1786ProfsTer27)
c.2145_2146del (p.Cys716ProfsTer27)
5g.177292107T>ACA362320886NSD1c.5539T>A (p.Cys1847Ser)
c.1054T>A (p.Cys352Ser)
n.5995T>A
n.828T>A
c.6103T>A (p.Cys2035Ser)
n.5809T>A
c.6412T>A (p.Cys2138Ser)
c.5605T>A (p.Cys1869Ser)
n.554T>A
c.1906T>A (p.Cys636Ser)
c.5992T>A (p.Cys1998Ser)
c.5356T>A (p.Cys1786Ser)
c.2146T>A (p.Cys716Ser)
 ClinVar
5g.177292107T>CCA16618186NSD1c.5539T>C (p.Cys1847Arg)
c.1054T>C (p.Cys352Arg)
n.5995T>C
n.828T>C
c.6103T>C (p.Cys2035Arg)
n.5809T>C
c.6412T>C (p.Cys2138Arg)
c.5605T>C (p.Cys1869Arg)
n.554T>C
c.1906T>C (p.Cys636Arg)
c.5992T>C (p.Cys1998Arg)
c.5356T>C (p.Cys1786Arg)
c.2146T>C (p.Cys716Arg)
 ClinVar dbSNP
5g.177292107T>GCA362320889NSD1c.5539T>G (p.Cys1847Gly)
c.1054T>G (p.Cys352Gly)
n.5995T>G
n.828T>G
c.6103T>G (p.Cys2035Gly)
n.5809T>G
c.6412T>G (p.Cys2138Gly)
c.5605T>G (p.Cys1869Gly)
n.554T>G
c.1906T>G (p.Cys636Gly)
c.5992T>G (p.Cys1998Gly)
c.5356T>G (p.Cys1786Gly)
c.2146T>G (p.Cys716Gly)
5g.177292107T=CA1603532937NSD1c.5539T= (p.Cys1847=)
c.1054T= (p.Cys352=)
n.5995T=
n.828T=
c.6103T= (p.Cys2035=)
n.5809T=
c.6412T= (p.Cys2138=)
c.5605T= (p.Cys1869=)
n.554T=
c.1906T= (p.Cys636=)
c.5992T= (p.Cys1998=)
c.5356T= (p.Cys1786=)
c.2146T= (p.Cys716=)

Number of alleles fetched