Chr Mutation (hg38) CAid Gene Transcript Linkouts
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=)
5g.177292108G>ACA295069NSD1c.5540G>A (p.Cys1847Tyr)
c.1055G>A (p.Cys352Tyr)
n.5996G>A
n.829G>A
c.6104G>A (p.Cys2035Tyr)
n.5810G>A
c.6413G>A (p.Cys2138Tyr)
c.5606G>A (p.Cys1869Tyr)
n.555G>A
c.1907G>A (p.Cys636Tyr)
c.5993G>A (p.Cys1998Tyr)
c.5357G>A (p.Cys1786Tyr)
c.2147G>A (p.Cys716Tyr)
 ClinVar dbSNP
5g.177292108G>CCA362320896NSD1c.5540G>C (p.Cys1847Ser)
c.1055G>C (p.Cys352Ser)
n.5996G>C
n.829G>C
c.6104G>C (p.Cys2035Ser)
n.5810G>C
c.6413G>C (p.Cys2138Ser)
c.5606G>C (p.Cys1869Ser)
n.555G>C
c.1907G>C (p.Cys636Ser)
c.5993G>C (p.Cys1998Ser)
c.5357G>C (p.Cys1786Ser)
c.2147G>C (p.Cys716Ser)
 ClinVar dbSNP
5g.177292108G=CA1603532944NSD1c.5540G= (p.Cys1847=)
c.1055G= (p.Cys352=)
n.5996G=
n.829G=
c.6104G= (p.Cys2035=)
n.5810G=
c.6413G= (p.Cys2138=)
c.5606G= (p.Cys1869=)
n.555G=
c.1907G= (p.Cys636=)
c.5993G= (p.Cys1998=)
c.5357G= (p.Cys1786=)
c.2147G= (p.Cys716=)
5g.177292108G>TCA362320898NSD1c.5540G>T (p.Cys1847Phe)
c.1055G>T (p.Cys352Phe)
n.5996G>T
n.829G>T
c.6104G>T (p.Cys2035Phe)
n.5810G>T
c.6413G>T (p.Cys2138Phe)
c.5606G>T (p.Cys1869Phe)
n.555G>T
c.1907G>T (p.Cys636Phe)
c.5993G>T (p.Cys1998Phe)
c.5357G>T (p.Cys1786Phe)
c.2147G>T (p.Cys716Phe)
5g.177292110_177292126dupCA2695205742NSD1c.5542_5558dup (p.Asp1854GlnfsTer11)
c.1057_1073dup (p.Asp359GlnfsTer11)
n.5998_6014dup
n.831_847dup
c.6106_6122dup (p.Asp2042GlnfsTer11)
n.5812_5828dup
c.6415_6431dup (p.Asp2145GlnfsTer11)
c.5608_5624dup (p.Asp1876GlnfsTer11)
n.557_573dup
c.1909_1925dup (p.Asp643GlnfsTer11)
c.5995_6011dup (p.Asp2005GlnfsTer11)
c.5359_5375dup (p.Asp1793GlnfsTer11)
c.2149_2165dup (p.Asp723GlnfsTer11)
5g.177292109C>ACA362320901NSD1c.5541C>A (p.Cys1847Ter)
c.1056C>A (p.Cys352Ter)
n.5997C>A
n.830C>A
c.6105C>A (p.Cys2035Ter)
n.5811C>A
c.6414C>A (p.Cys2138Ter)
c.5607C>A (p.Cys1869Ter)
n.556C>A
c.1908C>A (p.Cys636Ter)
c.5994C>A (p.Cys1998Ter)
c.5358C>A (p.Cys1786Ter)
c.2148C>A (p.Cys716Ter)
5g.177292109C>GCA362320904NSD1c.5541C>G (p.Cys1847Trp)
c.1056C>G (p.Cys352Trp)
n.5997C>G
n.830C>G
c.6105C>G (p.Cys2035Trp)
n.5811C>G
c.6414C>G (p.Cys2138Trp)
c.5607C>G (p.Cys1869Trp)
n.556C>G
c.1908C>G (p.Cys636Trp)
c.5994C>G (p.Cys1998Trp)
c.5358C>G (p.Cys1786Trp)
c.2148C>G (p.Cys716Trp)
5g.177292109C>TCA447740771NSD1c.5541C>T (p.Cys1847=)
c.1056C>T (p.Cys352=)
n.5997C>T
n.830C>T
c.6105C>T (p.Cys2035=)
n.5811C>T
c.6414C>T (p.Cys2138=)
c.5607C>T (p.Cys1869=)
n.556C>T
c.1908C>T (p.Cys636=)
c.5994C>T (p.Cys1998=)
c.5358C>T (p.Cys1786=)
c.2148C>T (p.Cys716=)
 dbSNP
5g.177292110C>ACA362320907NSD1c.5542C>A (p.Pro1848Thr)
c.1057C>A (p.Pro353Thr)
n.5998C>A
n.831C>A
c.6106C>A (p.Pro2036Thr)
n.5812C>A
c.6415C>A (p.Pro2139Thr)
c.5608C>A (p.Pro1870Thr)
n.557C>A
c.1909C>A (p.Pro637Thr)
c.5995C>A (p.Pro1999Thr)
c.5359C>A (p.Pro1787Thr)
c.2149C>A (p.Pro717Thr)
 dbSNP
5g.177292110C>GCA362320910NSD1c.5542C>G (p.Pro1848Ala)
c.1057C>G (p.Pro353Ala)
n.5998C>G
n.831C>G
c.6106C>G (p.Pro2036Ala)
n.5812C>G
c.6415C>G (p.Pro2139Ala)
c.5608C>G (p.Pro1870Ala)
n.557C>G
c.1909C>G (p.Pro637Ala)
c.5995C>G (p.Pro1999Ala)
c.5359C>G (p.Pro1787Ala)
c.2149C>G (p.Pro717Ala)
5g.177292110C>TCA362320911NSD1c.5542C>T (p.Pro1848Ser)
c.1057C>T (p.Pro353Ser)
n.5998C>T
n.831C>T
c.6106C>T (p.Pro2036Ser)
n.5812C>T
c.6415C>T (p.Pro2139Ser)
c.5608C>T (p.Pro1870Ser)
n.557C>T
c.1909C>T (p.Pro637Ser)
c.5995C>T (p.Pro1999Ser)
c.5359C>T (p.Pro1787Ser)
c.2149C>T (p.Pro717Ser)
5g.177292111C>ACA362320915NSD1c.5543C>A (p.Pro1848Gln)
c.1058C>A (p.Pro353Gln)
n.5999C>A
n.832C>A
c.6107C>A (p.Pro2036Gln)
n.5813C>A
c.6416C>A (p.Pro2139Gln)
c.5609C>A (p.Pro1870Gln)
n.558C>A
c.1910C>A (p.Pro637Gln)
c.5996C>A (p.Pro1999Gln)
c.5360C>A (p.Pro1787Gln)
c.2150C>A (p.Pro717Gln)
5g.177292111C>GCA362320917NSD1c.5543C>G (p.Pro1848Arg)
c.1058C>G (p.Pro353Arg)
n.5999C>G
n.832C>G
c.6107C>G (p.Pro2036Arg)
n.5813C>G
c.6416C>G (p.Pro2139Arg)
c.5609C>G (p.Pro1870Arg)
n.558C>G
c.1910C>G (p.Pro637Arg)
c.5996C>G (p.Pro1999Arg)
c.5360C>G (p.Pro1787Arg)
c.2150C>G (p.Pro717Arg)
 dbSNP
5g.177292111C>TCA362320919NSD1c.5543C>T (p.Pro1848Leu)
c.1058C>T (p.Pro353Leu)
n.5999C>T
n.832C>T
c.6107C>T (p.Pro2036Leu)
n.5813C>T
c.6416C>T (p.Pro2139Leu)
c.5609C>T (p.Pro1870Leu)
n.558C>T
c.1910C>T (p.Pro637Leu)
c.5996C>T (p.Pro1999Leu)
c.5360C>T (p.Pro1787Leu)
c.2150C>T (p.Pro717Leu)
5g.177292112A>CCA447740772NSD1c.5544A>C (p.Pro1848=)
c.1059A>C (p.Pro353=)
n.6000A>C
n.833A>C
c.6108A>C (p.Pro2036=)
n.5814A>C
c.6417A>C (p.Pro2139=)
c.5610A>C (p.Pro1870=)
n.559A>C
c.1911A>C (p.Pro637=)
c.5997A>C (p.Pro1999=)
c.5361A>C (p.Pro1787=)
c.2151A>C (p.Pro717=)
5g.177292112A>GCA447740773NSD1c.5544A>G (p.Pro1848=)
c.1059A>G (p.Pro353=)
n.6000A>G
n.833A>G
c.6108A>G (p.Pro2036=)
n.5814A>G
c.6417A>G (p.Pro2139=)
c.5610A>G (p.Pro1870=)
n.559A>G
c.1911A>G (p.Pro637=)
c.5997A>G (p.Pro1999=)
c.5361A>G (p.Pro1787=)
c.2151A>G (p.Pro717=)
 gnomAD v4
5g.177292112A>TCA447740774NSD1c.5544A>T (p.Pro1848=)
c.1059A>T (p.Pro353=)
n.6000A>T
n.833A>T
c.6108A>T (p.Pro2036=)
n.5814A>T
c.6417A>T (p.Pro2139=)
c.5610A>T (p.Pro1870=)
n.559A>T
c.1911A>T (p.Pro637=)
c.5997A>T (p.Pro1999=)
c.5361A>T (p.Pro1787=)
c.2151A>T (p.Pro717=)
5g.177292115delCA2695205743NSD1c.5547del (p.Val1850PhefsTer9)
c.1062del (p.Val355PhefsTer9)
n.6003del
n.836del
c.6111del (p.Val2038PhefsTer9)
n.5817del
c.6420del (p.Val2141PhefsTer9)
c.5613del (p.Val1872PhefsTer9)
n.562del
c.1914del (p.Val639PhefsTer9)
c.6000del (p.Val2001PhefsTer9)
c.5364del (p.Val1789PhefsTer9)
c.2154del (p.Val719PhefsTer9)
5g.177292113A=CA1603532951NSD1c.5545A= (p.Lys1849=)
c.1060A= (p.Lys354=)
n.6001A=
n.834A=
c.6109A= (p.Lys2037=)
n.5815A=
c.6418A= (p.Lys2140=)
c.5611A= (p.Lys1871=)
n.560A=
c.1912A= (p.Lys638=)
c.5998A= (p.Lys2000=)
c.5362A= (p.Lys1788=)
c.2152A= (p.Lys718=)
5g.177292113A>CCA362320925NSD1c.5545A>C (p.Lys1849Gln)
c.1060A>C (p.Lys354Gln)
n.6001A>C
n.834A>C
c.6109A>C (p.Lys2037Gln)
n.5815A>C
c.6418A>C (p.Lys2140Gln)
c.5611A>C (p.Lys1871Gln)
n.560A>C
c.1912A>C (p.Lys638Gln)
c.5998A>C (p.Lys2000Gln)
c.5362A>C (p.Lys1788Gln)
c.2152A>C (p.Lys718Gln)
5g.177292113A>GCA295072NSD1c.5545A>G (p.Lys1849Glu)
c.1060A>G (p.Lys354Glu)
n.6001A>G
n.834A>G
c.6109A>G (p.Lys2037Glu)
n.5815A>G
c.6418A>G (p.Lys2140Glu)
c.5611A>G (p.Lys1871Glu)
n.560A>G
c.1912A>G (p.Lys638Glu)
c.5998A>G (p.Lys2000Glu)
c.5362A>G (p.Lys1788Glu)
c.2152A>G (p.Lys718Glu)
 ClinVar dbSNP
5g.177292113A>TCA362320923NSD1c.5545A>T (p.Lys1849Ter)
c.1060A>T (p.Lys354Ter)
n.6001A>T
n.834A>T
c.6109A>T (p.Lys2037Ter)
n.5815A>T
c.6418A>T (p.Lys2140Ter)
c.5611A>T (p.Lys1871Ter)
n.560A>T
c.1912A>T (p.Lys638Ter)
c.5998A>T (p.Lys2000Ter)
c.5362A>T (p.Lys1788Ter)
c.2152A>T (p.Lys718Ter)
 COSMIC COSMIC
5g.177292114A>CCA362320929NSD1c.5546A>C (p.Lys1849Thr)
c.1061A>C (p.Lys354Thr)
n.6002A>C
n.835A>C
c.6110A>C (p.Lys2037Thr)
n.5816A>C
c.6419A>C (p.Lys2140Thr)
c.5612A>C (p.Lys1871Thr)
n.561A>C
c.1913A>C (p.Lys638Thr)
c.5999A>C (p.Lys2000Thr)
c.5363A>C (p.Lys1788Thr)
c.2153A>C (p.Lys718Thr)
5g.177292114A>GCA362320932NSD1c.5546A>G (p.Lys1849Arg)
c.1061A>G (p.Lys354Arg)
n.6002A>G
n.835A>G
c.6110A>G (p.Lys2037Arg)
n.5816A>G
c.6419A>G (p.Lys2140Arg)
c.5612A>G (p.Lys1871Arg)
n.561A>G
c.1913A>G (p.Lys638Arg)
c.5999A>G (p.Lys2000Arg)
c.5363A>G (p.Lys1788Arg)
c.2153A>G (p.Lys718Arg)
5g.177292114A>TCA362320934NSD1c.5546A>T (p.Lys1849Ile)
c.1061A>T (p.Lys354Ile)
n.6002A>T
n.835A>T
c.6110A>T (p.Lys2037Ile)
n.5816A>T
c.6419A>T (p.Lys2140Ile)
c.5612A>T (p.Lys1871Ile)
n.561A>T
c.1913A>T (p.Lys638Ile)
c.5999A>T (p.Lys2000Ile)
c.5363A>T (p.Lys1788Ile)
c.2153A>T (p.Lys718Ile)
5g.177292114_177292115insCACACCCAACACCA2769562751NSD1c.5546_5547insCACACCCAACAC (p.Lys1849delinsAsnThrProAsnThr)
c.1061_1062insCACACCCAACAC (p.Lys354delinsAsnThrProAsnThr)
n.6002_6003insCACACCCAACAC
n.835_836insCACACCCAACAC
c.6110_6111insCACACCCAACAC (p.Lys2037delinsAsnThrProAsnThr)
n.5816_5817insCACACCCAACAC
c.6419_6420insCACACCCAACAC (p.Lys2140delinsAsnThrProAsnThr)
c.5612_5613insCACACCCAACAC (p.Lys1871delinsAsnThrProAsnThr)
n.561_562insCACACCCAACAC
c.1913_1914insCACACCCAACAC (p.Lys638delinsAsnThrProAsnThr)
c.5999_6000insCACACCCAACAC (p.Lys2000delinsAsnThrProAsnThr)
c.5363_5364insCACACCCAACAC (p.Lys1788delinsAsnThrProAsnThr)
c.2153_2154insCACACCCAACAC (p.Lys718delinsAsnThrProAsnThr)
5g.177292115A>CCA362320937NSD1c.5547A>C (p.Lys1849Asn)
c.1062A>C (p.Lys354Asn)
n.6003A>C
n.836A>C
c.6111A>C (p.Lys2037Asn)
n.5817A>C
c.6420A>C (p.Lys2140Asn)
c.5613A>C (p.Lys1871Asn)
n.562A>C
c.1914A>C (p.Lys638Asn)
c.6000A>C (p.Lys2000Asn)
c.5364A>C (p.Lys1788Asn)
c.2154A>C (p.Lys718Asn)
5g.177292115A>GCA447740775NSD1c.5547A>G (p.Lys1849=)
c.1062A>G (p.Lys354=)
n.6003A>G
n.836A>G
c.6111A>G (p.Lys2037=)
n.5817A>G
c.6420A>G (p.Lys2140=)
c.5613A>G (p.Lys1871=)
n.562A>G
c.1914A>G (p.Lys638=)
c.6000A>G (p.Lys2000=)
c.5364A>G (p.Lys1788=)
c.2154A>G (p.Lys718=)
5g.177292115A>TCA362320938NSD1c.5547A>T (p.Lys1849Asn)
c.1062A>T (p.Lys354Asn)
n.6003A>T
n.836A>T
c.6111A>T (p.Lys2037Asn)
n.5817A>T
c.6420A>T (p.Lys2140Asn)
c.5613A>T (p.Lys1871Asn)
n.562A>T
c.1914A>T (p.Lys638Asn)
c.6000A>T (p.Lys2000Asn)
c.5364A>T (p.Lys1788Asn)
c.2154A>T (p.Lys718Asn)
5g.177292115_177292116delinsAGCA1603532957NSD1c.5547_5548delinsAG (p.Lys1849=)
c.1062_1063delinsAG (p.Lys354=)
n.6003_6004delinsAG
n.836_837delinsAG
c.6111_6112delinsAG (p.Lys2037=)
n.5817_5818delinsAG
c.6420_6421delinsAG (p.Lys2140=)
c.5613_5614delinsAG (p.Lys1871=)
n.562_563delinsAG
c.1914_1915delinsAG (p.Lys638=)
c.6000_6001delinsAG (p.Lys2000=)
c.5364_5365delinsAG (p.Lys1788=)
c.2154_2155delinsAG (p.Lys718=)
5g.177292116delCA295075NSD1c.5548del (p.Val1850PhefsTer9)
c.1063del (p.Val355PhefsTer9)
n.6004del
n.837del
c.6112del (p.Val2038PhefsTer9)
n.5818del
c.6421del (p.Val2141PhefsTer9)
c.5614del (p.Val1872PhefsTer9)
n.563del
c.1915del (p.Val639PhefsTer9)
c.6001del (p.Val2001PhefsTer9)
c.5365del (p.Val1789PhefsTer9)
c.2155del (p.Val719PhefsTer9)
 ClinVar dbSNP
5g.177292116G>ACA362320950NSD1c.5548G>A (p.Val1850Ile)
c.1063G>A (p.Val355Ile)
n.6004G>A
n.837G>A
c.6112G>A (p.Val2038Ile)
n.5818G>A
c.6421G>A (p.Val2141Ile)
c.5614G>A (p.Val1872Ile)
n.563G>A
c.1915G>A (p.Val639Ile)
c.6001G>A (p.Val2001Ile)
c.5365G>A (p.Val1789Ile)
c.2155G>A (p.Val719Ile)
5g.177292116G>CCA362320947NSD1c.5548G>C (p.Val1850Leu)
c.1063G>C (p.Val355Leu)
n.6004G>C
n.837G>C
c.6112G>C (p.Val2038Leu)
n.5818G>C
c.6421G>C (p.Val2141Leu)
c.5614G>C (p.Val1872Leu)
n.563G>C
c.1915G>C (p.Val639Leu)
c.6001G>C (p.Val2001Leu)
c.5365G>C (p.Val1789Leu)
c.2155G>C (p.Val719Leu)
 dbSNP
5g.177292116G>TCA362320945NSD1c.5548G>T (p.Val1850Phe)
c.1063G>T (p.Val355Phe)
n.6004G>T
n.837G>T
c.6112G>T (p.Val2038Phe)
n.5818G>T
c.6421G>T (p.Val2141Phe)
c.5614G>T (p.Val1872Phe)
n.563G>T
c.1915G>T (p.Val639Phe)
c.6001G>T (p.Val2001Phe)
c.5365G>T (p.Val1789Phe)
c.2155G>T (p.Val719Phe)
5g.177292117T>ACA362320954NSD1c.5549T>A (p.Val1850Asp)
c.1064T>A (p.Val355Asp)
n.6005T>A
n.838T>A
c.6113T>A (p.Val2038Asp)
n.5819T>A
c.6422T>A (p.Val2141Asp)
c.5615T>A (p.Val1872Asp)
n.564T>A
c.1916T>A (p.Val639Asp)
c.6002T>A (p.Val2001Asp)
c.5366T>A (p.Val1789Asp)
c.2156T>A (p.Val719Asp)
5g.177292117T>CCA362320955NSD1c.5549T>C (p.Val1850Ala)
c.1064T>C (p.Val355Ala)
n.6005T>C
n.838T>C
c.6113T>C (p.Val2038Ala)
n.5819T>C
c.6422T>C (p.Val2141Ala)
c.5615T>C (p.Val1872Ala)
n.564T>C
c.1916T>C (p.Val639Ala)
c.6002T>C (p.Val2001Ala)
c.5366T>C (p.Val1789Ala)
c.2156T>C (p.Val719Ala)
5g.177292117T>GCA362320958NSD1c.5549T>G (p.Val1850Gly)
c.1064T>G (p.Val355Gly)
n.6005T>G
n.838T>G
c.6113T>G (p.Val2038Gly)
n.5819T>G
c.6422T>G (p.Val2141Gly)
c.5615T>G (p.Val1872Gly)
n.564T>G
c.1916T>G (p.Val639Gly)
c.6002T>G (p.Val2001Gly)
c.5366T>G (p.Val1789Gly)
c.2156T>G (p.Val719Gly)
5g.177292118T>ACA447740776NSD1c.5550T>A (p.Val1850=)
c.1065T>A (p.Val355=)
n.6006T>A
n.839T>A
c.6114T>A (p.Val2038=)
n.5820T>A
c.6423T>A (p.Val2141=)
c.5616T>A (p.Val1872=)
n.565T>A
c.1917T>A (p.Val639=)
c.6003T>A (p.Val2001=)
c.5367T>A (p.Val1789=)
c.2157T>A (p.Val719=)
5g.177292118T>CCA447740777NSD1c.5550T>C (p.Val1850=)
c.1065T>C (p.Val355=)
n.6006T>C
n.839T>C
c.6114T>C (p.Val2038=)
n.5820T>C
c.6423T>C (p.Val2141=)
c.5616T>C (p.Val1872=)
n.565T>C
c.1917T>C (p.Val639=)
c.6003T>C (p.Val2001=)
c.5367T>C (p.Val1789=)
c.2157T>C (p.Val719=)
5g.177292118T>GCA447740778NSD1c.5550T>G (p.Val1850=)
c.1065T>G (p.Val355=)
n.6006T>G
n.839T>G
c.6114T>G (p.Val2038=)
n.5820T>G
c.6423T>G (p.Val2141=)
c.5616T>G (p.Val1872=)
n.565T>G
c.1917T>G (p.Val639=)
c.6003T>G (p.Val2001=)
c.5367T>G (p.Val1789=)
c.2157T>G (p.Val719=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.177292118T=CA1603532962NSD1c.5550T= (p.Val1850=)
c.1065T= (p.Val355=)
n.6006T=
n.839T=
c.6114T= (p.Val2038=)
n.5820T=
c.6423T= (p.Val2141=)
c.5616T= (p.Val1872=)
n.565T=
c.1917T= (p.Val639=)
c.6003T= (p.Val2001=)
c.5367T= (p.Val1789=)
c.2157T= (p.Val719=)
5g.177292119T>ACA362320962NSD1c.5551T>A (p.Tyr1851Asn)
c.1066T>A (p.Tyr356Asn)
n.6007T>A
n.840T>A
c.6115T>A (p.Tyr2039Asn)
n.5821T>A
c.6424T>A (p.Tyr2142Asn)
c.5617T>A (p.Tyr1873Asn)
n.566T>A
c.1918T>A (p.Tyr640Asn)
c.6004T>A (p.Tyr2002Asn)
c.5368T>A (p.Tyr1790Asn)
c.2158T>A (p.Tyr720Asn)
5g.177292119T>CCA362320964NSD1c.5551T>C (p.Tyr1851His)
c.1066T>C (p.Tyr356His)
n.6007T>C
n.840T>C
c.6115T>C (p.Tyr2039His)
n.5821T>C
c.6424T>C (p.Tyr2142His)
c.5617T>C (p.Tyr1873His)
n.566T>C
c.1918T>C (p.Tyr640His)
c.6004T>C (p.Tyr2002His)
c.5368T>C (p.Tyr1790His)
c.2158T>C (p.Tyr720His)
5g.177292119T>GCA362320967NSD1c.5551T>G (p.Tyr1851Asp)
c.1066T>G (p.Tyr356Asp)
n.6007T>G
n.840T>G
c.6115T>G (p.Tyr2039Asp)
n.5821T>G
c.6424T>G (p.Tyr2142Asp)
c.5617T>G (p.Tyr1873Asp)
n.566T>G
c.1918T>G (p.Tyr640Asp)
c.6004T>G (p.Tyr2002Asp)
c.5368T>G (p.Tyr1790Asp)
c.2158T>G (p.Tyr720Asp)
 ClinVar dbSNP
5g.177292119T=CA1603532969NSD1c.5551T= (p.Tyr1851=)
c.1066T= (p.Tyr356=)
n.6007T=
n.840T=
c.6115T= (p.Tyr2039=)
n.5821T=
c.6424T= (p.Tyr2142=)
c.5617T= (p.Tyr1873=)
n.566T=
c.1918T= (p.Tyr640=)
c.6004T= (p.Tyr2002=)
c.5368T= (p.Tyr1790=)
c.2158T= (p.Tyr720=)
5g.177292120A=CA1603532982NSD1c.5552A= (p.Tyr1851=)
c.1067A= (p.Tyr356=)
n.6008A=
n.841A=
c.6116A= (p.Tyr2039=)
n.5822A=
c.6425A= (p.Tyr2142=)
c.5618A= (p.Tyr1873=)
n.567A=
c.1919A= (p.Tyr640=)
c.6005A= (p.Tyr2002=)
c.5369A= (p.Tyr1790=)
c.2159A= (p.Tyr720=)
5g.177292120A>CCA16042611NSD1c.5552A>C (p.Tyr1851Ser)
c.1067A>C (p.Tyr356Ser)
n.6008A>C
n.841A>C
c.6116A>C (p.Tyr2039Ser)
n.5822A>C
c.6425A>C (p.Tyr2142Ser)
c.5618A>C (p.Tyr1873Ser)
n.567A>C
c.1919A>C (p.Tyr640Ser)
c.6005A>C (p.Tyr2002Ser)
c.5369A>C (p.Tyr1790Ser)
c.2159A>C (p.Tyr720Ser)
 ClinVar dbSNP
5g.177292120A>GCA362320975NSD1c.5552A>G (p.Tyr1851Cys)
c.1067A>G (p.Tyr356Cys)
n.6008A>G
n.841A>G
c.6116A>G (p.Tyr2039Cys)
n.5822A>G
c.6425A>G (p.Tyr2142Cys)
c.5618A>G (p.Tyr1873Cys)
n.567A>G
c.1919A>G (p.Tyr640Cys)
c.6005A>G (p.Tyr2002Cys)
c.5369A>G (p.Tyr1790Cys)
c.2159A>G (p.Tyr720Cys)
5g.177292120A>TCA362320972NSD1c.5552A>T (p.Tyr1851Phe)
c.1067A>T (p.Tyr356Phe)
n.6008A>T
n.841A>T
c.6116A>T (p.Tyr2039Phe)
n.5822A>T
c.6425A>T (p.Tyr2142Phe)
c.5618A>T (p.Tyr1873Phe)
n.567A>T
c.1919A>T (p.Tyr640Phe)
c.6005A>T (p.Tyr2002Phe)
c.5369A>T (p.Tyr1790Phe)
c.2159A>T (p.Tyr720Phe)
5g.177292121C>ACA362320978NSD1c.5553C>A (p.Tyr1851Ter)
c.1068C>A (p.Tyr356Ter)
n.6009C>A
n.842C>A
c.6117C>A (p.Tyr2039Ter)
n.5823C>A
c.6426C>A (p.Tyr2142Ter)
c.5619C>A (p.Tyr1873Ter)
n.568C>A
c.1920C>A (p.Tyr640Ter)
c.6006C>A (p.Tyr2002Ter)
c.5370C>A (p.Tyr1790Ter)
c.2160C>A (p.Tyr720Ter)
5g.177292121C=CA1603532986NSD1c.5553C= (p.Tyr1851=)
c.1068C= (p.Tyr356=)
n.6009C=
n.842C=
c.6117C= (p.Tyr2039=)
n.5823C=
c.6426C= (p.Tyr2142=)
c.5619C= (p.Tyr1873=)
n.568C=
c.1920C= (p.Tyr640=)
c.6006C= (p.Tyr2002=)
c.5370C= (p.Tyr1790=)
c.2160C= (p.Tyr720=)
5g.177292121C>GCA16611860NSD1c.5553C>G (p.Tyr1851Ter)
c.1068C>G (p.Tyr356Ter)
n.6009C>G
n.842C>G
c.6117C>G (p.Tyr2039Ter)
n.5823C>G
c.6426C>G (p.Tyr2142Ter)
c.5619C>G (p.Tyr1873Ter)
n.568C>G
c.1920C>G (p.Tyr640Ter)
c.6006C>G (p.Tyr2002Ter)
c.5370C>G (p.Tyr1790Ter)
c.2160C>G (p.Tyr720Ter)
 ClinVar dbSNP
5g.177292121C>TCA447740779NSD1c.5553C>T (p.Tyr1851=)
c.1068C>T (p.Tyr356=)
n.6009C>T
n.842C>T
c.6117C>T (p.Tyr2039=)
n.5823C>T
c.6426C>T (p.Tyr2142=)
c.5619C>T (p.Tyr1873=)
n.568C>T
c.1920C>T (p.Tyr640=)
c.6006C>T (p.Tyr2002=)
c.5370C>T (p.Tyr1790=)
c.2160C>T (p.Tyr720=)
 dbSNP gnomAD v4
5g.177292122C>ACA362320984NSD1c.5554C>A (p.His1852Asn)
c.1069C>A (p.His357Asn)
n.6010C>A
n.843C>A
c.6118C>A (p.His2040Asn)
n.5824C>A
c.6427C>A (p.His2143Asn)
c.5620C>A (p.His1874Asn)
n.569C>A
c.1921C>A (p.His641Asn)
c.6007C>A (p.His2003Asn)
c.5371C>A (p.His1791Asn)
c.2161C>A (p.His721Asn)
5g.177292122C>GCA362320986NSD1c.5554C>G (p.His1852Asp)
c.1069C>G (p.His357Asp)
n.6010C>G
n.843C>G
c.6118C>G (p.His2040Asp)
n.5824C>G
c.6427C>G (p.His2143Asp)
c.5620C>G (p.His1874Asp)
n.569C>G
c.1921C>G (p.His641Asp)
c.6007C>G (p.His2003Asp)
c.5371C>G (p.His1791Asp)
c.2161C>G (p.His721Asp)
5g.177292122C>TCA362320989NSD1c.5554C>T (p.His1852Tyr)
c.1069C>T (p.His357Tyr)
n.6010C>T
n.843C>T
c.6118C>T (p.His2040Tyr)
n.5824C>T
c.6427C>T (p.His2143Tyr)
c.5620C>T (p.His1874Tyr)
n.569C>T
c.1921C>T (p.His641Tyr)
c.6007C>T (p.His2003Tyr)
c.5371C>T (p.His1791Tyr)
c.2161C>T (p.His721Tyr)
5g.177292123A>CCA362320993NSD1c.5555A>C (p.His1852Pro)
c.1070A>C (p.His357Pro)
n.6011A>C
n.844A>C
c.6119A>C (p.His2040Pro)
n.5825A>C
c.6428A>C (p.His2143Pro)
c.5621A>C (p.His1874Pro)
n.570A>C
c.1922A>C (p.His641Pro)
c.6008A>C (p.His2003Pro)
c.5372A>C (p.His1791Pro)
c.2162A>C (p.His721Pro)
5g.177292123A>GCA362320995NSD1c.5555A>G (p.His1852Arg)
c.1070A>G (p.His357Arg)
n.6011A>G
n.844A>G
c.6119A>G (p.His2040Arg)
n.5825A>G
c.6428A>G (p.His2143Arg)
c.5621A>G (p.His1874Arg)
n.570A>G
c.1922A>G (p.His641Arg)
c.6008A>G (p.His2003Arg)
c.5372A>G (p.His1791Arg)
c.2162A>G (p.His721Arg)
5g.177292123A>TCA362320998NSD1c.5555A>T (p.His1852Leu)
c.1070A>T (p.His357Leu)
n.6011A>T
n.844A>T
c.6119A>T (p.His2040Leu)
n.5825A>T
c.6428A>T (p.His2143Leu)
c.5621A>T (p.His1874Leu)
n.570A>T
c.1922A>T (p.His641Leu)
c.6008A>T (p.His2003Leu)
c.5372A>T (p.His1791Leu)
c.2162A>T (p.His721Leu)
5g.177292124C>ACA362321001NSD1c.5556C>A (p.His1852Gln)
c.1071C>A (p.His357Gln)
n.6012C>A
n.845C>A
c.6120C>A (p.His2040Gln)
n.5826C>A
c.6429C>A (p.His2143Gln)
c.5622C>A (p.His1874Gln)
n.571C>A
c.1923C>A (p.His641Gln)
c.6009C>A (p.His2003Gln)
c.5373C>A (p.His1791Gln)
c.2163C>A (p.His721Gln)
5g.177292124C=CA1603532994NSD1c.5556C= (p.His1852=)
c.1071C= (p.His357=)
n.6012C=
n.845C=
c.6120C= (p.His2040=)
n.5826C=
c.6429C= (p.His2143=)
c.5622C= (p.His1874=)
n.571C=
c.1923C= (p.His641=)
c.6009C= (p.His2003=)
c.5373C= (p.His1791=)
c.2163C= (p.His721=)
5g.177292124C>GCA281540NSD1c.5556C>G (p.His1852Gln)
c.1071C>G (p.His357Gln)
n.6012C>G
n.845C>G
c.6120C>G (p.His2040Gln)
n.5826C>G
c.6429C>G (p.His2143Gln)
c.5622C>G (p.His1874Gln)
n.571C>G
c.1923C>G (p.His641Gln)
c.6009C>G (p.His2003Gln)
c.5373C>G (p.His1791Gln)
c.2163C>G (p.His721Gln)
 ClinVar dbSNP
5g.177292124C>TCA3577987NSD1c.5556C>T (p.His1852=)
c.1071C>T (p.His357=)
n.6012C>T
n.845C>T
c.6120C>T (p.His2040=)
n.5826C>T
c.6429C>T (p.His2143=)
c.5622C>T (p.His1874=)
n.571C>T
c.1923C>T (p.His641=)
c.6009C>T (p.His2003=)
c.5373C>T (p.His1791=)
c.2163C>T (p.His721=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.177292125G>ACA3577988NSD1c.5557G>A (p.Ala1853Thr)
c.1072G>A (p.Ala358Thr)
n.6013G>A
n.846G>A
c.6121G>A (p.Ala2041Thr)
n.5827G>A
c.6430G>A (p.Ala2144Thr)
c.5623G>A (p.Ala1875Thr)
n.572G>A
c.1924G>A (p.Ala642Thr)
c.6010G>A (p.Ala2004Thr)
c.5374G>A (p.Ala1792Thr)
c.2164G>A (p.Ala722Thr)
 ClinVar dbSNP ExAC gnomAD v4 COSMIC COSMIC
5g.177292125G>CCA362321009NSD1c.5557G>C (p.Ala1853Pro)
c.1072G>C (p.Ala358Pro)
n.6013G>C
n.846G>C
c.6121G>C (p.Ala2041Pro)
n.5827G>C
c.6430G>C (p.Ala2144Pro)
c.5623G>C (p.Ala1875Pro)
n.572G>C
c.1924G>C (p.Ala642Pro)
c.6010G>C (p.Ala2004Pro)
c.5374G>C (p.Ala1792Pro)
c.2164G>C (p.Ala722Pro)
5g.177292125G=CA1603533000NSD1c.5557G= (p.Ala1853=)
c.1072G= (p.Ala358=)
n.6013G=
n.846G=
c.6121G= (p.Ala2041=)
n.5827G=
c.6430G= (p.Ala2144=)
c.5623G= (p.Ala1875=)
n.572G=
c.1924G= (p.Ala642=)
c.6010G= (p.Ala2004=)
c.5374G= (p.Ala1792=)
c.2164G= (p.Ala722=)
5g.177292125G>TCA362321007NSD1c.5557G>T (p.Ala1853Ser)
c.1072G>T (p.Ala358Ser)
n.6013G>T
n.846G>T
c.6121G>T (p.Ala2041Ser)
n.5827G>T
c.6430G>T (p.Ala2144Ser)
c.5623G>T (p.Ala1875Ser)
n.572G>T
c.1924G>T (p.Ala642Ser)
c.6010G>T (p.Ala2004Ser)
c.5374G>T (p.Ala1792Ser)
c.2164G>T (p.Ala722Ser)
5g.177292125_177292126delinsGCCA1603532999NSD1c.5557_5558delinsGC (p.Ala1853=)
c.1072_1073delinsGC (p.Ala358=)
n.6013_6014delinsGC
n.846_847delinsGC
c.6121_6122delinsGC (p.Ala2041=)
n.5827_5828delinsGC
c.6430_6431delinsGC (p.Ala2144=)
c.5623_5624delinsGC (p.Ala1875=)
n.572_573delinsGC
c.1924_1925delinsGC (p.Ala642=)
c.6010_6011delinsGC (p.Ala2004=)
c.5374_5375delinsGC (p.Ala1792=)
c.2164_2165delinsGC (p.Ala722=)
5g.177292126delCA295076NSD1c.5558del (p.Ala1853GlufsTer6)
c.1073del (p.Ala358GlufsTer6)
n.6014del
n.847del
c.6122del (p.Ala2041GlufsTer6)
n.5828del
c.6431del (p.Ala2144GlufsTer6)
c.5624del (p.Ala1875GlufsTer6)
n.573del
c.1925del (p.Ala642GlufsTer6)
c.6011del (p.Ala2004GlufsTer6)
c.5375del (p.Ala1792GlufsTer6)
c.2165del (p.Ala722GlufsTer6)
 ClinVar dbSNP
5g.177292126C>ACA362321014NSD1c.5558C>A (p.Ala1853Glu)
c.1073C>A (p.Ala358Glu)
n.6014C>A
n.847C>A
c.6122C>A (p.Ala2041Glu)
n.5828C>A
c.6431C>A (p.Ala2144Glu)
c.5624C>A (p.Ala1875Glu)
n.573C>A
c.1925C>A (p.Ala642Glu)
c.6011C>A (p.Ala2004Glu)
c.5375C>A (p.Ala1792Glu)
c.2165C>A (p.Ala722Glu)
5g.177292126C=CA1603533010NSD1c.5558C= (p.Ala1853=)
c.1073C= (p.Ala358=)
n.6014C=
n.847C=
c.6122C= (p.Ala2041=)
n.5828C=
c.6431C= (p.Ala2144=)
c.5624C= (p.Ala1875=)
n.573C=
c.1925C= (p.Ala642=)
c.6011C= (p.Ala2004=)
c.5375C= (p.Ala1792=)
c.2165C= (p.Ala722=)
5g.177292126C>GCA362321016NSD1c.5558C>G (p.Ala1853Gly)
c.1073C>G (p.Ala358Gly)
n.6014C>G
n.847C>G
c.6122C>G (p.Ala2041Gly)
n.5828C>G
c.6431C>G (p.Ala2144Gly)
c.5624C>G (p.Ala1875Gly)
n.573C>G
c.1925C>G (p.Ala642Gly)
c.6011C>G (p.Ala2004Gly)
c.5375C>G (p.Ala1792Gly)
c.2165C>G (p.Ala722Gly)
 dbSNP gnomAD v3 gnomAD v4
5g.177292126C>TCA362321019NSD1c.5558C>T (p.Ala1853Val)
c.1073C>T (p.Ala358Val)
n.6014C>T
n.847C>T
c.6122C>T (p.Ala2041Val)
n.5828C>T
c.6431C>T (p.Ala2144Val)
c.5624C>T (p.Ala1875Val)
n.573C>T
c.1925C>T (p.Ala642Val)
c.6011C>T (p.Ala2004Val)
c.5375C>T (p.Ala1792Val)
c.2165C>T (p.Ala722Val)
 COSMIC COSMIC
5g.177292127A=CA1603533013NSD1c.5559A= (p.Ala1853=)
c.1074A= (p.Ala358=)
n.6015A=
n.848A=
c.6123A= (p.Ala2041=)
n.5829A=
c.6432A= (p.Ala2144=)
c.5625A= (p.Ala1875=)
n.574A=
c.1926A= (p.Ala642=)
c.6012A= (p.Ala2004=)
c.5376A= (p.Ala1792=)
c.2166A= (p.Ala722=)
5g.177292127A>CCA447740780NSD1c.5559A>C (p.Ala1853=)
c.1074A>C (p.Ala358=)
n.6015A>C
n.848A>C
c.6123A>C (p.Ala2041=)
n.5829A>C
c.6432A>C (p.Ala2144=)
c.5625A>C (p.Ala1875=)
n.574A>C
c.1926A>C (p.Ala642=)
c.6012A>C (p.Ala2004=)
c.5376A>C (p.Ala1792=)
c.2166A>C (p.Ala722=)
5g.177292127A>GCA3577989NSD1c.5559A>G (p.Ala1853=)
c.1074A>G (p.Ala358=)
n.6015A>G
n.848A>G
c.6123A>G (p.Ala2041=)
n.5829A>G
c.6432A>G (p.Ala2144=)
c.5625A>G (p.Ala1875=)
n.574A>G
c.1926A>G (p.Ala642=)
c.6012A>G (p.Ala2004=)
c.5376A>G (p.Ala1792=)
c.2166A>G (p.Ala722=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.177292127A>TCA447740781NSD1c.5559A>T (p.Ala1853=)
c.1074A>T (p.Ala358=)
n.6015A>T
n.848A>T
c.6123A>T (p.Ala2041=)
n.5829A>T
c.6432A>T (p.Ala2144=)
c.5625A>T (p.Ala1875=)
n.574A>T
c.1926A>T (p.Ala642=)
c.6012A>T (p.Ala2004=)
c.5376A>T (p.Ala1792=)
c.2166A>T (p.Ala722=)
5g.177292128G>ACA362321020NSD1c.5560G>A (p.Asp1854Asn)
c.1075G>A (p.Asp359Asn)
n.6016G>A
n.849G>A
c.6124G>A (p.Asp2042Asn)
n.5830G>A
c.6433G>A (p.Asp2145Asn)
c.5626G>A (p.Asp1876Asn)
c.1927G>A (p.Asp643Asn)
c.6013G>A (p.Asp2005Asn)
c.5377G>A (p.Asp1793Asn)
c.2167G>A (p.Asp723Asn)
5g.177292128G>CCA362321021NSD1c.5560G>C (p.Asp1854His)
c.1075G>C (p.Asp359His)
n.6016G>C
n.849G>C
c.6124G>C (p.Asp2042His)
n.5830G>C
c.6433G>C (p.Asp2145His)
c.5626G>C (p.Asp1876His)
c.1927G>C (p.Asp643His)
c.6013G>C (p.Asp2005His)
c.5377G>C (p.Asp1793His)
c.2167G>C (p.Asp723His)
5g.177292128G>TCA362321023NSD1c.5560G>T (p.Asp1854Tyr)
c.1075G>T (p.Asp359Tyr)
n.6016G>T
n.849G>T
c.6124G>T (p.Asp2042Tyr)
n.5830G>T
c.6433G>T (p.Asp2145Tyr)
c.5626G>T (p.Asp1876Tyr)
c.1927G>T (p.Asp643Tyr)
c.6013G>T (p.Asp2005Tyr)
c.5377G>T (p.Asp1793Tyr)
c.2167G>T (p.Asp723Tyr)
5g.177292129A>CCA362321025NSD1c.5561A>C (p.Asp1854Ala)
c.1076A>C (p.Asp359Ala)
n.6017A>C
n.850A>C
c.6125A>C (p.Asp2042Ala)
n.5831A>C
c.6434A>C (p.Asp2145Ala)
c.5627A>C (p.Asp1876Ala)
c.1928A>C (p.Asp643Ala)
c.6014A>C (p.Asp2005Ala)
c.5378A>C (p.Asp1793Ala)
c.2168A>C (p.Asp723Ala)
5g.177292129A>GCA362321028NSD1c.5561A>G (p.Asp1854Gly)
c.1076A>G (p.Asp359Gly)
n.6017A>G
n.850A>G
c.6125A>G (p.Asp2042Gly)
n.5831A>G
c.6434A>G (p.Asp2145Gly)
c.5627A>G (p.Asp1876Gly)
c.1928A>G (p.Asp643Gly)
c.6014A>G (p.Asp2005Gly)
c.5378A>G (p.Asp1793Gly)
c.2168A>G (p.Asp723Gly)
5g.177292129A>TCA362321030NSD1c.5561A>T (p.Asp1854Val)
c.1076A>T (p.Asp359Val)
n.6017A>T
n.850A>T
c.6125A>T (p.Asp2042Val)
n.5831A>T
c.6434A>T (p.Asp2145Val)
c.5627A>T (p.Asp1876Val)
c.1928A>T (p.Asp643Val)
c.6014A>T (p.Asp2005Val)
c.5378A>T (p.Asp1793Val)
c.2168A>T (p.Asp723Val)
5g.177292130C>ACA362321031NSD1c.5562C>A (p.Asp1854Glu)
c.1077C>A (p.Asp359Glu)
n.6018C>A
n.851C>A
c.6126C>A (p.Asp2042Glu)
n.5832C>A
c.6435C>A (p.Asp2145Glu)
c.5628C>A (p.Asp1876Glu)
c.1929C>A (p.Asp643Glu)
c.6015C>A (p.Asp2005Glu)
c.5379C>A (p.Asp1793Glu)
c.2169C>A (p.Asp723Glu)
5g.177292130C>GCA362321034NSD1c.5562C>G (p.Asp1854Glu)
c.1077C>G (p.Asp359Glu)
n.6018C>G
n.851C>G
c.6126C>G (p.Asp2042Glu)
n.5832C>G
c.6435C>G (p.Asp2145Glu)
c.5628C>G (p.Asp1876Glu)
c.1929C>G (p.Asp643Glu)
c.6015C>G (p.Asp2005Glu)
c.5379C>G (p.Asp1793Glu)
c.2169C>G (p.Asp723Glu)
5g.177292130C>TCA447740782NSD1c.5562C>T (p.Asp1854=)
c.1077C>T (p.Asp359=)
n.6018C>T
n.851C>T
c.6126C>T (p.Asp2042=)
n.5832C>T
c.6435C>T (p.Asp2145=)
c.5628C>T (p.Asp1876=)
c.1929C>T (p.Asp643=)
c.6015C>T (p.Asp2005=)
c.5379C>T (p.Asp1793=)
c.2169C>T (p.Asp723=)
 gnomAD v4
5g.177292131T>ACA362321039NSD1c.5563T>A (p.Cys1855Ser)
c.1078T>A (p.Cys360Ser)
n.6019T>A
n.852T>A
c.6127T>A (p.Cys2043Ser)
n.5833T>A
c.6436T>A (p.Cys2146Ser)
c.5629T>A (p.Cys1877Ser)
c.1930T>A (p.Cys644Ser)
c.6016T>A (p.Cys2006Ser)
c.5380T>A (p.Cys1794Ser)
c.2170T>A (p.Cys724Ser)
5g.177292131T>CCA362321040NSD1c.5563T>C (p.Cys1855Arg)
c.1078T>C (p.Cys360Arg)
n.6019T>C
n.852T>C
c.6127T>C (p.Cys2043Arg)
n.5833T>C
c.6436T>C (p.Cys2146Arg)
c.5629T>C (p.Cys1877Arg)
c.1930T>C (p.Cys644Arg)
c.6016T>C (p.Cys2006Arg)
c.5380T>C (p.Cys1794Arg)
c.2170T>C (p.Cys724Arg)
 ClinVar dbSNP
5g.177292131T>GCA362321044NSD1c.5563T>G (p.Cys1855Gly)
c.1078T>G (p.Cys360Gly)
n.6019T>G
n.852T>G
c.6127T>G (p.Cys2043Gly)
n.5833T>G
c.6436T>G (p.Cys2146Gly)
c.5629T>G (p.Cys1877Gly)
c.1930T>G (p.Cys644Gly)
c.6016T>G (p.Cys2006Gly)
c.5380T>G (p.Cys1794Gly)
c.2170T>G (p.Cys724Gly)
5g.177292131T=CA1603533018NSD1c.5563T= (p.Cys1855=)
c.1078T= (p.Cys360=)
n.6019T=
n.852T=
c.6127T= (p.Cys2043=)
n.5833T=
c.6436T= (p.Cys2146=)
c.5629T= (p.Cys1877=)
c.1930T= (p.Cys644=)
c.6016T= (p.Cys2006=)
c.5380T= (p.Cys1794=)
c.2170T= (p.Cys724=)
5g.177292132G>ACA362321047NSD1c.5564G>A (p.Cys1855Tyr)
c.1079G>A (p.Cys360Tyr)
n.6020G>A
n.853G>A
c.6128G>A (p.Cys2043Tyr)
n.5834G>A
c.6437G>A (p.Cys2146Tyr)
c.5630G>A (p.Cys1877Tyr)
c.1931G>A (p.Cys644Tyr)
c.6017G>A (p.Cys2006Tyr)
c.5381G>A (p.Cys1794Tyr)
c.2171G>A (p.Cys724Tyr)
 ClinVar dbSNP
5g.177292132G>CCA362321049NSD1c.5564G>C (p.Cys1855Ser)
c.1079G>C (p.Cys360Ser)
n.6020G>C
n.853G>C
c.6128G>C (p.Cys2043Ser)
n.5834G>C
c.6437G>C (p.Cys2146Ser)
c.5630G>C (p.Cys1877Ser)
c.1931G>C (p.Cys644Ser)
c.6017G>C (p.Cys2006Ser)
c.5381G>C (p.Cys1794Ser)
c.2171G>C (p.Cys724Ser)
5g.177292132G=CA1603533024NSD1c.5564G= (p.Cys1855=)
c.1079G= (p.Cys360=)
n.6020G=
n.853G=
c.6128G= (p.Cys2043=)
n.5834G=
c.6437G= (p.Cys2146=)
c.5630G= (p.Cys1877=)
c.1931G= (p.Cys644=)
c.6017G= (p.Cys2006=)
c.5381G= (p.Cys1794=)
c.2171G= (p.Cys724=)
5g.177292132G>TCA362321050NSD1c.5564G>T (p.Cys1855Phe)
c.1079G>T (p.Cys360Phe)
n.6020G>T
n.853G>T
c.6128G>T (p.Cys2043Phe)
n.5834G>T
c.6437G>T (p.Cys2146Phe)
c.5630G>T (p.Cys1877Phe)
c.1931G>T (p.Cys644Phe)
c.6017G>T (p.Cys2006Phe)
c.5381G>T (p.Cys1794Phe)
c.2171G>T (p.Cys724Phe)
5g.177292132dupCA658822383NSD1c.5564dup (p.Cys1855TrpfsTer20)
c.1079dup (p.Cys360TrpfsTer20)
n.6020dup
n.853dup
c.6128dup (p.Cys2043TrpfsTer20)
n.5834dup
c.6437dup (p.Cys2146TrpfsTer20)
c.5630dup (p.Cys1877TrpfsTer20)
c.1931dup (p.Cys644TrpfsTer20)
c.6017dup (p.Cys2006TrpfsTer20)
c.5381dup (p.Cys1794TrpfsTer20)
c.2171dup (p.Cys724TrpfsTer20)
 ClinVar dbSNP
5g.177292133T>ACA362321054NSD1c.5565T>A (p.Cys1855Ter)
c.1080T>A (p.Cys360Ter)
n.6021T>A
n.854T>A
c.6129T>A (p.Cys2043Ter)
n.5835T>A
c.6438T>A (p.Cys2146Ter)
c.5631T>A (p.Cys1877Ter)
c.1932T>A (p.Cys644Ter)
c.6018T>A (p.Cys2006Ter)
c.5382T>A (p.Cys1794Ter)
c.2172T>A (p.Cys724Ter)
5g.177292133T>CCA447740783NSD1c.5565T>C (p.Cys1855=)
c.1080T>C (p.Cys360=)
n.6021T>C
n.854T>C
c.6129T>C (p.Cys2043=)
n.5835T>C
c.6438T>C (p.Cys2146=)
c.5631T>C (p.Cys1877=)
c.1932T>C (p.Cys644=)
c.6018T>C (p.Cys2006=)
c.5382T>C (p.Cys1794=)
c.2172T>C (p.Cys724=)
5g.177292133T>GCA362321058NSD1c.5565T>G (p.Cys1855Trp)
c.1080T>G (p.Cys360Trp)
n.6021T>G
n.854T>G
c.6129T>G (p.Cys2043Trp)
n.5835T>G
c.6438T>G (p.Cys2146Trp)
c.5631T>G (p.Cys1877Trp)
c.1932T>G (p.Cys644Trp)
c.6018T>G (p.Cys2006Trp)
c.5382T>G (p.Cys1794Trp)
c.2172T>G (p.Cys724Trp)
5g.177292134C>ACA362321061NSD1c.5566C>A (p.Leu1856Ile)
c.1081C>A (p.Leu361Ile)
n.6022C>A
n.855C>A
c.6130C>A (p.Leu2044Ile)
n.5836C>A
c.6439C>A (p.Leu2147Ile)
c.5632C>A (p.Leu1878Ile)
c.1933C>A (p.Leu645Ile)
c.6019C>A (p.Leu2007Ile)
c.5383C>A (p.Leu1795Ile)
c.2173C>A (p.Leu725Ile)
5g.177292134C=CA1603533029NSD1c.5566C= (p.Leu1856=)
c.1081C= (p.Leu361=)
n.6022C=
n.855C=
c.6130C= (p.Leu2044=)
n.5836C=
c.6439C= (p.Leu2147=)
c.5632C= (p.Leu1878=)
c.1933C= (p.Leu645=)
c.6019C= (p.Leu2007=)
c.5383C= (p.Leu1795=)
c.2173C= (p.Leu725=)
5g.177292134C>GCA362321064NSD1c.5566C>G (p.Leu1856Val)
c.1081C>G (p.Leu361Val)
n.6022C>G
n.855C>G
c.6130C>G (p.Leu2044Val)
n.5836C>G
c.6439C>G (p.Leu2147Val)
c.5632C>G (p.Leu1878Val)
c.1933C>G (p.Leu645Val)
c.6019C>G (p.Leu2007Val)
c.5383C>G (p.Leu1795Val)
c.2173C>G (p.Leu725Val)
5g.177292134C>TCA362321066NSD1c.5566C>T (p.Leu1856Phe)
c.1081C>T (p.Leu361Phe)
n.6022C>T
n.855C>T
c.6130C>T (p.Leu2044Phe)
n.5836C>T
c.6439C>T (p.Leu2147Phe)
c.5632C>T (p.Leu1878Phe)
c.1933C>T (p.Leu645Phe)
c.6019C>T (p.Leu2007Phe)
c.5383C>T (p.Leu1795Phe)
c.2173C>T (p.Leu725Phe)
5g.177292135T>ACA362321067NSD1c.5567T>A (p.Leu1856His)
c.1082T>A (p.Leu361His)
n.6023T>A
n.856T>A
c.6131T>A (p.Leu2044His)
n.5837T>A
c.6440T>A (p.Leu2147His)
c.5633T>A (p.Leu1878His)
c.1934T>A (p.Leu645His)
c.6020T>A (p.Leu2007His)
c.5384T>A (p.Leu1795His)
c.2174T>A (p.Leu725His)
5g.177292135T>CCA362321070NSD1c.5567T>C (p.Leu1856Pro)
c.1082T>C (p.Leu361Pro)
n.6023T>C
n.856T>C
c.6131T>C (p.Leu2044Pro)
n.5837T>C
c.6440T>C (p.Leu2147Pro)
c.5633T>C (p.Leu1878Pro)
c.1934T>C (p.Leu645Pro)
c.6020T>C (p.Leu2007Pro)
c.5384T>C (p.Leu1795Pro)
c.2174T>C (p.Leu725Pro)
5g.177292135T>GCA362321072NSD1c.5567T>G (p.Leu1856Arg)
c.1082T>G (p.Leu361Arg)
n.6023T>G
n.856T>G
c.6131T>G (p.Leu2044Arg)
n.5837T>G
c.6440T>G (p.Leu2147Arg)
c.5633T>G (p.Leu1878Arg)
c.1934T>G (p.Leu645Arg)
c.6020T>G (p.Leu2007Arg)
c.5384T>G (p.Leu1795Arg)
c.2174T>G (p.Leu725Arg)
 COSMIC COSMIC
5g.177292135dupCA10604608NSD1c.5567dup (p.Asn1857GlnfsTer18)
c.1082dup (p.Asn362GlnfsTer18)
n.6023dup
n.856dup
c.6131dup (p.Asn2045GlnfsTer18)
n.5837dup
c.6440dup (p.Asn2148GlnfsTer18)
c.5633dup (p.Asn1879GlnfsTer18)
c.1934dup (p.Asn646GlnfsTer18)
c.6020dup (p.Asn2008GlnfsTer18)
c.5384dup (p.Asn1796GlnfsTer18)
c.2174dup (p.Asn726GlnfsTer18)
 ClinVar dbSNP
5g.177292136C>ACA3577990NSD1c.5568C>A (p.Leu1856=)
c.1083C>A (p.Leu361=)
n.6024C>A
n.857C>A
c.6132C>A (p.Leu2044=)
n.5838C>A
c.6441C>A (p.Leu2147=)
c.5634C>A (p.Leu1878=)
c.1935C>A (p.Leu645=)
c.6021C>A (p.Leu2007=)
c.5385C>A (p.Leu1795=)
c.2175C>A (p.Leu725=)
 dbSNP ExAC gnomAD v2
5g.177292136C=CA1603533040NSD1c.5568C= (p.Leu1856=)
c.1083C= (p.Leu361=)
n.6024C=
n.857C=
c.6132C= (p.Leu2044=)
n.5838C=
c.6441C= (p.Leu2147=)
c.5634C= (p.Leu1878=)
c.1935C= (p.Leu645=)
c.6021C= (p.Leu2007=)
c.5385C= (p.Leu1795=)
c.2175C= (p.Leu725=)
5g.177292136C>GCA447740785NSD1c.5568C>G (p.Leu1856=)
c.1083C>G (p.Leu361=)
n.6024C>G
n.857C>G
c.6132C>G (p.Leu2044=)
n.5838C>G
c.6441C>G (p.Leu2147=)
c.5634C>G (p.Leu1878=)
c.1935C>G (p.Leu645=)
c.6021C>G (p.Leu2007=)
c.5385C>G (p.Leu1795=)
c.2175C>G (p.Leu725=)
5g.177292136C>TCA447740784NSD1c.5568C>T (p.Leu1856=)
c.1083C>T (p.Leu361=)
n.6024C>T
n.857C>T
c.6132C>T (p.Leu2044=)
n.5838C>T
c.6441C>T (p.Leu2147=)
c.5634C>T (p.Leu1878=)
c.1935C>T (p.Leu645=)
c.6021C>T (p.Leu2007=)
c.5385C>T (p.Leu1795=)
c.2175C>T (p.Leu725=)
5g.177292137A>CCA362321076NSD1c.5569A>C (p.Asn1857His)
c.1084A>C (p.Asn362His)
n.6025A>C
n.858A>C
c.6133A>C (p.Asn2045His)
n.5839A>C
c.6442A>C (p.Asn2148His)
c.5635A>C (p.Asn1879His)
c.1936A>C (p.Asn646His)
c.6022A>C (p.Asn2008His)
c.5386A>C (p.Asn1796His)
c.2176A>C (p.Asn726His)
5g.177292137A>GCA362321077NSD1c.5569A>G (p.Asn1857Asp)
c.1084A>G (p.Asn362Asp)
n.6025A>G
n.858A>G
c.6133A>G (p.Asn2045Asp)
n.5839A>G
c.6442A>G (p.Asn2148Asp)
c.5635A>G (p.Asn1879Asp)
c.1936A>G (p.Asn646Asp)
c.6022A>G (p.Asn2008Asp)
c.5386A>G (p.Asn1796Asp)
c.2176A>G (p.Asn726Asp)
5g.177292137A>TCA362321078NSD1c.5569A>T (p.Asn1857Tyr)
c.1084A>T (p.Asn362Tyr)
n.6025A>T
n.858A>T
c.6133A>T (p.Asn2045Tyr)
n.5839A>T
c.6442A>T (p.Asn2148Tyr)
c.5635A>T (p.Asn1879Tyr)
c.1936A>T (p.Asn646Tyr)
c.6022A>T (p.Asn2008Tyr)
c.5386A>T (p.Asn1796Tyr)
c.2176A>T (p.Asn726Tyr)
5g.177292138A>CCA362321081NSD1c.5570A>C (p.Asn1857Thr)
c.1085A>C (p.Asn362Thr)
n.6026A>C
n.859A>C
c.6134A>C (p.Asn2045Thr)
n.5840A>C
c.6443A>C (p.Asn2148Thr)
c.5636A>C (p.Asn1879Thr)
c.1937A>C (p.Asn646Thr)
c.6023A>C (p.Asn2008Thr)
c.5387A>C (p.Asn1796Thr)
c.2177A>C (p.Asn726Thr)
5g.177292138A>GCA362321082NSD1c.5570A>G (p.Asn1857Ser)
c.1085A>G (p.Asn362Ser)
n.6026A>G
n.859A>G
c.6134A>G (p.Asn2045Ser)
n.5840A>G
c.6443A>G (p.Asn2148Ser)
c.5636A>G (p.Asn1879Ser)
c.1937A>G (p.Asn646Ser)
c.6023A>G (p.Asn2008Ser)
c.5387A>G (p.Asn1796Ser)
c.2177A>G (p.Asn726Ser)
 ClinVar dbSNP gnomAD v4
5g.177292138A>TCA362321084NSD1c.5570A>T (p.Asn1857Ile)
c.1085A>T (p.Asn362Ile)
n.6026A>T
n.859A>T
c.6134A>T (p.Asn2045Ile)
n.5840A>T
c.6443A>T (p.Asn2148Ile)
c.5636A>T (p.Asn1879Ile)
c.1937A>T (p.Asn646Ile)
c.6023A>T (p.Asn2008Ile)
c.5387A>T (p.Asn1796Ile)
c.2177A>T (p.Asn726Ile)
5g.177292139T>ACA362321086NSD1c.5571T>A (p.Asn1857Lys)
c.1086T>A (p.Asn362Lys)
n.6027T>A
n.860T>A
c.6135T>A (p.Asn2045Lys)
n.5841T>A
c.6444T>A (p.Asn2148Lys)
c.5637T>A (p.Asn1879Lys)
c.1938T>A (p.Asn646Lys)
c.6024T>A (p.Asn2008Lys)
c.5388T>A (p.Asn1796Lys)
c.2178T>A (p.Asn726Lys)
5g.177292139T>CCA172846NSD1c.5571T>C (p.Asn1857=)
c.1086T>C (p.Asn362=)
n.6027T>C
n.860T>C
c.6135T>C (p.Asn2045=)
n.5841T>C
c.6444T>C (p.Asn2148=)
c.5637T>C (p.Asn1879=)
c.1938T>C (p.Asn646=)
c.6024T>C (p.Asn2008=)
c.5388T>C (p.Asn1796=)
c.2178T>C (p.Asn726=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.177292139T>GCA362321087NSD1c.5571T>G (p.Asn1857Lys)
c.1086T>G (p.Asn362Lys)
n.6027T>G
n.860T>G
c.6135T>G (p.Asn2045Lys)
n.5841T>G
c.6444T>G (p.Asn2148Lys)
c.5637T>G (p.Asn1879Lys)
c.1938T>G (p.Asn646Lys)
c.6024T>G (p.Asn2008Lys)
c.5388T>G (p.Asn1796Lys)
c.2178T>G (p.Asn726Lys)
5g.177292139T=CA1603533045NSD1c.5571T= (p.Asn1857=)
c.1086T= (p.Asn362=)
n.6027T=
n.860T=
c.6135T= (p.Asn2045=)
n.5841T=
c.6444T= (p.Asn2148=)
c.5637T= (p.Asn1879=)
c.1938T= (p.Asn646=)
c.6024T= (p.Asn2008=)
c.5388T= (p.Asn1796=)
c.2178T= (p.Asn726=)
5g.177292140C>ACA362321090NSD1c.5572C>A (p.Leu1858Met)
c.1087C>A (p.Leu363Met)
n.6028C>A
n.861C>A
c.6136C>A (p.Leu2046Met)
n.5842C>A
c.6445C>A (p.Leu2149Met)
c.5638C>A (p.Leu1880Met)
c.1939C>A (p.Leu647Met)
c.6025C>A (p.Leu2009Met)
c.5389C>A (p.Leu1797Met)
c.2179C>A (p.Leu727Met)
5g.177292140C>GCA362321092NSD1c.5572C>G (p.Leu1858Val)
c.1087C>G (p.Leu363Val)
n.6028C>G
n.861C>G
c.6136C>G (p.Leu2046Val)
n.5842C>G
c.6445C>G (p.Leu2149Val)
c.5638C>G (p.Leu1880Val)
c.1939C>G (p.Leu647Val)
c.6025C>G (p.Leu2009Val)
c.5389C>G (p.Leu1797Val)
c.2179C>G (p.Leu727Val)
5g.177292140C>TCA447740786NSD1c.5572C>T (p.Leu1858=)
c.1087C>T (p.Leu363=)
n.6028C>T
n.861C>T
c.6136C>T (p.Leu2046=)
n.5842C>T
c.6445C>T (p.Leu2149=)
c.5638C>T (p.Leu1880=)
c.1939C>T (p.Leu647=)
c.6025C>T (p.Leu2009=)
c.5389C>T (p.Leu1797=)
c.2179C>T (p.Leu727=)
5g.177292141T>ACA362321093NSD1c.5573T>A (p.Leu1858Gln)
c.1088T>A (p.Leu363Gln)
n.6029T>A
n.862T>A
c.6137T>A (p.Leu2046Gln)
n.5843T>A
c.6446T>A (p.Leu2149Gln)
c.5639T>A (p.Leu1880Gln)
c.1940T>A (p.Leu647Gln)
c.6026T>A (p.Leu2009Gln)
c.5390T>A (p.Leu1797Gln)
c.2180T>A (p.Leu727Gln)
5g.177292141T>CCA362321096NSD1c.5573T>C (p.Leu1858Pro)
c.1088T>C (p.Leu363Pro)
n.6029T>C
n.862T>C
c.6137T>C (p.Leu2046Pro)
n.5843T>C
c.6446T>C (p.Leu2149Pro)
c.5639T>C (p.Leu1880Pro)
c.1940T>C (p.Leu647Pro)
c.6026T>C (p.Leu2009Pro)
c.5390T>C (p.Leu1797Pro)
c.2180T>C (p.Leu727Pro)
5g.177292141T>GCA362321098NSD1c.5573T>G (p.Leu1858Arg)
c.1088T>G (p.Leu363Arg)
n.6029T>G
n.862T>G
c.6137T>G (p.Leu2046Arg)
n.5843T>G
c.6446T>G (p.Leu2149Arg)
c.5639T>G (p.Leu1880Arg)
c.1940T>G (p.Leu647Arg)
c.6026T>G (p.Leu2009Arg)
c.5390T>G (p.Leu1797Arg)
c.2180T>G (p.Leu727Arg)
5g.177292142G>ACA447740787NSD1c.5574G>A (p.Leu1858=)
c.1089G>A (p.Leu363=)
n.6030G>A
n.863G>A
c.6138G>A (p.Leu2046=)
n.5844G>A
c.6447G>A (p.Leu2149=)
c.5640G>A (p.Leu1880=)
c.1941G>A (p.Leu647=)
c.6027G>A (p.Leu2009=)
c.5391G>A (p.Leu1797=)
c.2181G>A (p.Leu727=)
 dbSNP gnomAD v4
5g.177292142G>CCA3577991NSD1c.5574G>C (p.Leu1858=)
c.1089G>C (p.Leu363=)
n.6030G>C
n.863G>C
c.6138G>C (p.Leu2046=)
n.5844G>C
c.6447G>C (p.Leu2149=)
c.5640G>C (p.Leu1880=)
c.1941G>C (p.Leu647=)
c.6027G>C (p.Leu2009=)
c.5391G>C (p.Leu1797=)
c.2181G>C (p.Leu727=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.177292142G=CA1603533051NSD1c.5574G= (p.Leu1858=)
c.1089G= (p.Leu363=)
n.6030G=
n.863G=
c.6138G= (p.Leu2046=)
n.5844G=
c.6447G= (p.Leu2149=)
c.5640G= (p.Leu1880=)
c.1941G= (p.Leu647=)
c.6027G= (p.Leu2009=)
c.5391G= (p.Leu1797=)
c.2181G= (p.Leu727=)
5g.177292142G>TCA447740788NSD1c.5574G>T (p.Leu1858=)
c.1089G>T (p.Leu363=)
n.6030G>T
n.863G>T
c.6138G>T (p.Leu2046=)
n.5844G>T
c.6447G>T (p.Leu2149=)
c.5640G>T (p.Leu1880=)
c.1941G>T (p.Leu647=)
c.6027G>T (p.Leu2009=)
c.5391G>T (p.Leu1797=)
c.2181G>T (p.Leu727=)
5g.177292147_177292154delCA2739289828NSD1c.5579_5586del (p.Lys1860SerfsTer12)
c.1094_1101del (p.Lys365SerfsTer12)
n.6035_6042del
n.868_875del
c.6143_6150del (p.Lys2048SerfsTer12)
n.5849_5856del
c.6452_6459del (p.Lys2151SerfsTer12)
c.5645_5652del (p.Lys1882SerfsTer12)
c.1946_1953del (p.Lys649SerfsTer12)
c.6032_6039del (p.Lys2011SerfsTer12)
c.5396_5403del (p.Lys1799SerfsTer12)
c.2186_2193del (p.Lys729SerfsTer12)
5g.177292143A=CA1603533056NSD1c.5575A= (p.Thr1859=)
c.1090A= (p.Thr364=)
n.6031A=
n.864A=
c.6139A= (p.Thr2047=)
n.5845A=
c.6448A= (p.Thr2150=)
c.5641A= (p.Thr1881=)
c.1942A= (p.Thr648=)
c.6028A= (p.Thr2010=)
c.5392A= (p.Thr1798=)
c.2182A= (p.Thr728=)
5g.177292143A>CCA362321102NSD1c.5575A>C (p.Thr1859Pro)
c.1090A>C (p.Thr364Pro)
n.6031A>C
n.864A>C
c.6139A>C (p.Thr2047Pro)
n.5845A>C
c.6448A>C (p.Thr2150Pro)
c.5641A>C (p.Thr1881Pro)
c.1942A>C (p.Thr648Pro)
c.6028A>C (p.Thr2010Pro)
c.5392A>C (p.Thr1798Pro)
c.2182A>C (p.Thr728Pro)
5g.177292143A>GCA362321103NSD1c.5575A>G (p.Thr1859Ala)
c.1090A>G (p.Thr364Ala)
n.6031A>G
n.864A>G
c.6139A>G (p.Thr2047Ala)
n.5845A>G
c.6448A>G (p.Thr2150Ala)
c.5641A>G (p.Thr1881Ala)
c.1942A>G (p.Thr648Ala)
c.6028A>G (p.Thr2010Ala)
c.5392A>G (p.Thr1798Ala)
c.2182A>G (p.Thr728Ala)
5g.177292143A>TCA362321105NSD1c.5575A>T (p.Thr1859Ser)
c.1090A>T (p.Thr364Ser)
n.6031A>T
n.864A>T
c.6139A>T (p.Thr2047Ser)
n.5845A>T
c.6448A>T (p.Thr2150Ser)
c.5641A>T (p.Thr1881Ser)
c.1942A>T (p.Thr648Ser)
c.6028A>T (p.Thr2010Ser)
c.5392A>T (p.Thr1798Ser)
c.2182A>T (p.Thr728Ser)
5g.177292144C>ACA362321107NSD1c.5576C>A (p.Thr1859Asn)
c.1091C>A (p.Thr364Asn)
n.6032C>A
n.865C>A
c.6140C>A (p.Thr2047Asn)
n.5846C>A
c.6449C>A (p.Thr2150Asn)
c.5642C>A (p.Thr1881Asn)
c.1943C>A (p.Thr648Asn)
c.6029C>A (p.Thr2010Asn)
c.5393C>A (p.Thr1798Asn)
c.2183C>A (p.Thr728Asn)
5g.177292144C>GCA362321109NSD1c.5576C>G (p.Thr1859Ser)
c.1091C>G (p.Thr364Ser)
n.6032C>G
n.865C>G
c.6140C>G (p.Thr2047Ser)
n.5846C>G
c.6449C>G (p.Thr2150Ser)
c.5642C>G (p.Thr1881Ser)
c.1943C>G (p.Thr648Ser)
c.6029C>G (p.Thr2010Ser)
c.5393C>G (p.Thr1798Ser)
c.2183C>G (p.Thr728Ser)
5g.177292144C>TCA362321111NSD1c.5576C>T (p.Thr1859Ile)
c.1091C>T (p.Thr364Ile)
n.6032C>T
n.865C>T
c.6140C>T (p.Thr2047Ile)
n.5846C>T
c.6449C>T (p.Thr2150Ile)
c.5642C>T (p.Thr1881Ile)
c.1943C>T (p.Thr648Ile)
c.6029C>T (p.Thr2010Ile)
c.5393C>T (p.Thr1798Ile)
c.2183C>T (p.Thr728Ile)
5g.177292145dupCA281544NSD1c.5577dup (p.Lys1860GlnfsTer15)
c.1092dup (p.Lys365GlnfsTer15)
n.6033dup
n.866dup
c.6141dup (p.Lys2048GlnfsTer15)
n.5847dup
c.6450dup (p.Lys2151GlnfsTer15)
c.5643dup (p.Lys1882GlnfsTer15)
c.1944dup (p.Lys649GlnfsTer15)
c.6030dup (p.Lys2011GlnfsTer15)
c.5394dup (p.Lys1799GlnfsTer15)
c.2184dup (p.Lys729GlnfsTer15)
 ClinVar dbSNP
5g.177292145C>ACA447740789NSD1c.5577C>A (p.Thr1859=)
c.1092C>A (p.Thr364=)
n.6033C>A
n.866C>A
c.6141C>A (p.Thr2047=)
n.5847C>A
c.6450C>A (p.Thr2150=)
c.5643C>A (p.Thr1881=)
c.1944C>A (p.Thr648=)
c.6030C>A (p.Thr2010=)
c.5394C>A (p.Thr1798=)
c.2184C>A (p.Thr728=)
 dbSNP gnomAD v3 gnomAD v4
5g.177292145C=CA1603533062NSD1c.5577C= (p.Thr1859=)
c.1092C= (p.Thr364=)
n.6033C=
n.866C=
c.6141C= (p.Thr2047=)
n.5847C=
c.6450C= (p.Thr2150=)
c.5643C= (p.Thr1881=)
c.1944C= (p.Thr648=)
c.6030C= (p.Thr2010=)
c.5394C= (p.Thr1798=)
c.2184C= (p.Thr728=)
5g.177292145C>GCA132861484NSD1c.5577C>G (p.Thr1859=)
c.1092C>G (p.Thr364=)
n.6033C>G
n.866C>G
c.6141C>G (p.Thr2047=)
n.5847C>G
c.6450C>G (p.Thr2150=)
c.5643C>G (p.Thr1881=)
c.1944C>G (p.Thr648=)
c.6030C>G (p.Thr2010=)
c.5394C>G (p.Thr1798=)
c.2184C>G (p.Thr728=)
 dbSNP
5g.177292145C>TCA447740790NSD1c.5577C>T (p.Thr1859=)
c.1092C>T (p.Thr364=)
n.6033C>T
n.866C>T
c.6141C>T (p.Thr2047=)
n.5847C>T
c.6450C>T (p.Thr2150=)
c.5643C>T (p.Thr1881=)
c.1944C>T (p.Thr648=)
c.6030C>T (p.Thr2010=)
c.5394C>T (p.Thr1798=)
c.2184C>T (p.Thr728=)
5g.177292146A>CCA362321118NSD1c.5578A>C (p.Lys1860Gln)
c.1093A>C (p.Lys365Gln)
n.6034A>C
n.867A>C
c.6142A>C (p.Lys2048Gln)
n.5848A>C
c.6451A>C (p.Lys2151Gln)
c.5644A>C (p.Lys1882Gln)
c.1945A>C (p.Lys649Gln)
c.6031A>C (p.Lys2011Gln)
c.5395A>C (p.Lys1799Gln)
c.2185A>C (p.Lys729Gln)
5g.177292146A>GCA362321115NSD1c.5578A>G (p.Lys1860Glu)
c.1093A>G (p.Lys365Glu)
n.6034A>G
n.867A>G
c.6142A>G (p.Lys2048Glu)
n.5848A>G
c.6451A>G (p.Lys2151Glu)
c.5644A>G (p.Lys1882Glu)
c.1945A>G (p.Lys649Glu)
c.6031A>G (p.Lys2011Glu)
c.5395A>G (p.Lys1799Glu)
c.2185A>G (p.Lys729Glu)
 COSMIC COSMIC
5g.177292146A>TCA362321117NSD1c.5578A>T (p.Lys1860Ter)
c.1093A>T (p.Lys365Ter)
n.6034A>T
n.867A>T
c.6142A>T (p.Lys2048Ter)
n.5848A>T
c.6451A>T (p.Lys2151Ter)
c.5644A>T (p.Lys1882Ter)
c.1945A>T (p.Lys649Ter)
c.6031A>T (p.Lys2011Ter)
c.5395A>T (p.Lys1799Ter)
c.2185A>T (p.Lys729Ter)
5g.177292147A=CA1603533065NSD1c.5579A= (p.Lys1860=)
c.1094A= (p.Lys365=)
n.6035A=
n.868A=
c.6143A= (p.Lys2048=)
n.5849A=
c.6452A= (p.Lys2151=)
c.5645A= (p.Lys1882=)
c.1946A= (p.Lys649=)
c.6032A= (p.Lys2011=)
c.5396A= (p.Lys1799=)
c.2186A= (p.Lys729=)
5g.177292147A>CCA362321119NSD1c.5579A>C (p.Lys1860Thr)
c.1094A>C (p.Lys365Thr)
n.6035A>C
n.868A>C
c.6143A>C (p.Lys2048Thr)
n.5849A>C
c.6452A>C (p.Lys2151Thr)
c.5645A>C (p.Lys1882Thr)
c.1946A>C (p.Lys649Thr)
c.6032A>C (p.Lys2011Thr)
c.5396A>C (p.Lys1799Thr)
c.2186A>C (p.Lys729Thr)
5g.177292147A>GCA362321123NSD1c.5579A>G (p.Lys1860Arg)
c.1094A>G (p.Lys365Arg)
n.6035A>G
n.868A>G
c.6143A>G (p.Lys2048Arg)
n.5849A>G
c.6452A>G (p.Lys2151Arg)
c.5645A>G (p.Lys1882Arg)
c.1946A>G (p.Lys649Arg)
c.6032A>G (p.Lys2011Arg)
c.5396A>G (p.Lys1799Arg)
c.2186A>G (p.Lys729Arg)
 dbSNP gnomAD v3 gnomAD v4
5g.177292147A>TCA362321125NSD1c.5579A>T (p.Lys1860Met)
c.1094A>T (p.Lys365Met)
n.6035A>T
n.868A>T
c.6143A>T (p.Lys2048Met)
n.5849A>T
c.6452A>T (p.Lys2151Met)
c.5645A>T (p.Lys1882Met)
c.1946A>T (p.Lys649Met)
c.6032A>T (p.Lys2011Met)
c.5396A>T (p.Lys1799Met)
c.2186A>T (p.Lys729Met)
5g.177292148G>ACA447740791NSD1c.5580G>A (p.Lys1860=)
c.1095G>A (p.Lys365=)
n.6036G>A
n.869G>A
c.6144G>A (p.Lys2048=)
n.5850G>A
c.6453G>A (p.Lys2151=)
c.5646G>A (p.Lys1882=)
c.1947G>A (p.Lys649=)
c.6033G>A (p.Lys2011=)
c.5397G>A (p.Lys1799=)
c.2187G>A (p.Lys729=)
 gnomAD v4
5g.177292148G>CCA362321127NSD1c.5580G>C (p.Lys1860Asn)
c.1095G>C (p.Lys365Asn)
n.6036G>C
n.869G>C
c.6144G>C (p.Lys2048Asn)
n.5850G>C
c.6453G>C (p.Lys2151Asn)
c.5646G>C (p.Lys1882Asn)
c.1947G>C (p.Lys649Asn)
c.6033G>C (p.Lys2011Asn)
c.5397G>C (p.Lys1799Asn)
c.2187G>C (p.Lys729Asn)
5g.177292148G>TCA362321129NSD1c.5580G>T (p.Lys1860Asn)
c.1095G>T (p.Lys365Asn)
n.6036G>T
n.869G>T
c.6144G>T (p.Lys2048Asn)
n.5850G>T
c.6453G>T (p.Lys2151Asn)
c.5646G>T (p.Lys1882Asn)
c.1947G>T (p.Lys649Asn)
c.6033G>T (p.Lys2011Asn)
c.5397G>T (p.Lys1799Asn)
c.2187G>T (p.Lys729Asn)
5g.177292149C>ACA3577992NSD1c.5581C>A (p.Arg1861=)
c.1096C>A (p.Arg366=)
n.6037C>A
n.870C>A
c.6145C>A (p.Arg2049=)
n.5851C>A
c.6454C>A (p.Arg2152=)
c.5647C>A (p.Arg1883=)
c.1948C>A (p.Arg650=)
c.6034C>A (p.Arg2012=)
c.5398C>A (p.Arg1800=)
c.2188C>A (p.Arg730=)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.177292149C=CA1603533071NSD1c.5581C= (p.Arg1861=)
c.1096C= (p.Arg366=)
n.6037C=
n.870C=
c.6145C= (p.Arg2049=)
n.5851C=
c.6454C= (p.Arg2152=)
c.5647C= (p.Arg1883=)
c.1948C= (p.Arg650=)
c.6034C= (p.Arg2012=)
c.5398C= (p.Arg1800=)
c.2188C= (p.Arg730=)
5g.177292149C>GCA362321132NSD1c.5581C>G (p.Arg1861Gly)
c.1096C>G (p.Arg366Gly)
n.6037C>G
n.870C>G
c.6145C>G (p.Arg2049Gly)
n.5851C>G
c.6454C>G (p.Arg2152Gly)
c.5647C>G (p.Arg1883Gly)
c.1948C>G (p.Arg650Gly)
c.6034C>G (p.Arg2012Gly)
c.5398C>G (p.Arg1800Gly)
c.2188C>G (p.Arg730Gly)
 ClinVar dbSNP
5g.177292149C>TCA295077NSD1c.5581C>T (p.Arg1861Ter)
c.1096C>T (p.Arg366Ter)
n.6037C>T
n.870C>T
c.6145C>T (p.Arg2049Ter)
n.5851C>T
c.6454C>T (p.Arg2152Ter)
c.5647C>T (p.Arg1883Ter)
c.1948C>T (p.Arg650Ter)
c.6034C>T (p.Arg2012Ter)
c.5398C>T (p.Arg1800Ter)
c.2188C>T (p.Arg730Ter)
 ClinVar dbSNP gnomAD v4
5g.177292150G>ACA295080NSD1c.5582G>A (p.Arg1861Gln)
c.1097G>A (p.Arg366Gln)
n.6038G>A
n.871G>A
c.6146G>A (p.Arg2049Gln)
n.5852G>A
c.6455G>A (p.Arg2152Gln)
c.5648G>A (p.Arg1883Gln)
c.1949G>A (p.Arg650Gln)
c.6035G>A (p.Arg2012Gln)
c.5399G>A (p.Arg1800Gln)
c.2189G>A (p.Arg730Gln)
 ClinVar dbSNP
5g.177292150G>CCA362321133NSD1c.5582G>C (p.Arg1861Pro)
c.1097G>C (p.Arg366Pro)
n.6038G>C
n.871G>C
c.6146G>C (p.Arg2049Pro)
n.5852G>C
c.6455G>C (p.Arg2152Pro)
c.5648G>C (p.Arg1883Pro)
c.1949G>C (p.Arg650Pro)
c.6035G>C (p.Arg2012Pro)
c.5399G>C (p.Arg1800Pro)
c.2189G>C (p.Arg730Pro)
5g.177292150G=CA1603533077NSD1c.5582G= (p.Arg1861=)
c.1097G= (p.Arg366=)
n.6038G=
n.871G=
c.6146G= (p.Arg2049=)
n.5852G=
c.6455G= (p.Arg2152=)
c.5648G= (p.Arg1883=)
c.1949G= (p.Arg650=)
c.6035G= (p.Arg2012=)
c.5399G= (p.Arg1800=)
c.2189G= (p.Arg730=)
5g.177292150G>TCA362321135NSD1c.5582G>T (p.Arg1861Leu)
c.1097G>T (p.Arg366Leu)
n.6038G>T
n.871G>T
c.6146G>T (p.Arg2049Leu)
n.5852G>T
c.6455G>T (p.Arg2152Leu)
c.5648G>T (p.Arg1883Leu)
c.1949G>T (p.Arg650Leu)
c.6035G>T (p.Arg2012Leu)
c.5399G>T (p.Arg1800Leu)
c.2189G>T (p.Arg730Leu)
5g.177292150dupCA2573139471NSD1c.5582dup (p.Pro1862ThrfsTer13)
c.1097dup (p.Pro367ThrfsTer13)
n.6038dup
n.871dup
c.6146dup (p.Pro2050ThrfsTer13)
n.5852dup
c.6455dup (p.Pro2153ThrfsTer13)
c.5648dup (p.Pro1884ThrfsTer13)
c.1949dup (p.Pro651ThrfsTer13)
c.6035dup (p.Pro2013ThrfsTer13)
c.5399dup (p.Pro1801ThrfsTer13)
c.2189dup (p.Pro731ThrfsTer13)
 ClinVar dbSNP
5g.177292151A>CCA447740792NSD1c.5583A>C (p.Arg1861=)
c.1098A>C (p.Arg366=)
n.6039A>C
n.872A>C
c.6147A>C (p.Arg2049=)
n.5853A>C
c.6456A>C (p.Arg2152=)
c.5649A>C (p.Arg1883=)
c.1950A>C (p.Arg650=)
c.6036A>C (p.Arg2012=)
c.5400A>C (p.Arg1800=)
c.2190A>C (p.Arg730=)
5g.177292151A>GCA447740793NSD1c.5583A>G (p.Arg1861=)
c.1098A>G (p.Arg366=)
n.6039A>G
n.872A>G
c.6147A>G (p.Arg2049=)
n.5853A>G
c.6456A>G (p.Arg2152=)
c.5649A>G (p.Arg1883=)
c.1950A>G (p.Arg650=)
c.6036A>G (p.Arg2012=)
c.5400A>G (p.Arg1800=)
c.2190A>G (p.Arg730=)
5g.177292151A>TCA447740794NSD1c.5583A>T (p.Arg1861=)
c.1098A>T (p.Arg366=)
n.6039A>T
n.872A>T
c.6147A>T (p.Arg2049=)
n.5853A>T
c.6456A>T (p.Arg2152=)
c.5649A>T (p.Arg1883=)
c.1950A>T (p.Arg650=)
c.6036A>T (p.Arg2012=)
c.5400A>T (p.Arg1800=)
c.2190A>T (p.Arg730=)
5g.177292152C>ACA362321137NSD1c.5584C>A (p.Pro1862Thr)
c.1099C>A (p.Pro367Thr)
n.6040C>A
n.873C>A
c.6148C>A (p.Pro2050Thr)
n.5854C>A
c.6457C>A (p.Pro2153Thr)
c.5650C>A (p.Pro1884Thr)
c.1951C>A (p.Pro651Thr)
c.6037C>A (p.Pro2013Thr)
c.5401C>A (p.Pro1801Thr)
c.2191C>A (p.Pro731Thr)
5g.177292152C>GCA362321140NSD1c.5584C>G (p.Pro1862Ala)
c.1099C>G (p.Pro367Ala)
n.6040C>G
n.873C>G
c.6148C>G (p.Pro2050Ala)
n.5854C>G
c.6457C>G (p.Pro2153Ala)
c.5650C>G (p.Pro1884Ala)
c.1951C>G (p.Pro651Ala)
c.6037C>G (p.Pro2013Ala)
c.5401C>G (p.Pro1801Ala)
c.2191C>G (p.Pro731Ala)
5g.177292152C>TCA362321138NSD1c.5584C>T (p.Pro1862Ser)
c.1099C>T (p.Pro367Ser)
n.6040C>T
n.873C>T
c.6148C>T (p.Pro2050Ser)
n.5854C>T
c.6457C>T (p.Pro2153Ser)
c.5650C>T (p.Pro1884Ser)
c.1951C>T (p.Pro651Ser)
c.6037C>T (p.Pro2013Ser)
c.5401C>T (p.Pro1801Ser)
c.2191C>T (p.Pro731Ser)
5g.177292153C>ACA362321141NSD1c.5585C>A (p.Pro1862Gln)
c.1100C>A (p.Pro367Gln)
n.6041C>A
n.874C>A
c.6149C>A (p.Pro2050Gln)
n.5855C>A
c.6458C>A (p.Pro2153Gln)
c.5651C>A (p.Pro1884Gln)
c.1952C>A (p.Pro651Gln)
c.6038C>A (p.Pro2013Gln)
c.5402C>A (p.Pro1801Gln)
c.2192C>A (p.Pro731Gln)
5g.177292153C>GCA362321145NSD1c.5585C>G (p.Pro1862Arg)
c.1100C>G (p.Pro367Arg)
n.6041C>G
n.874C>G
c.6149C>G (p.Pro2050Arg)
n.5855C>G
c.6458C>G (p.Pro2153Arg)
c.5651C>G (p.Pro1884Arg)
c.1952C>G (p.Pro651Arg)
c.6038C>G (p.Pro2013Arg)
c.5402C>G (p.Pro1801Arg)
c.2192C>G (p.Pro731Arg)
5g.177292153C>TCA362321143NSD1c.5585C>T (p.Pro1862Leu)
c.1100C>T (p.Pro367Leu)
n.6041C>T
n.874C>T
c.6149C>T (p.Pro2050Leu)
n.5855C>T
c.6458C>T (p.Pro2153Leu)
c.5651C>T (p.Pro1884Leu)
c.1952C>T (p.Pro651Leu)
c.6038C>T (p.Pro2013Leu)
c.5402C>T (p.Pro1801Leu)
c.2192C>T (p.Pro731Leu)
5g.177292153_177292163delinsCAGCAGGTTGGCA1603533083NSD1c.5585_5590+5delinsCAGCAGGTTGG
c.1100_1105+5delinsCAGCAGGTTGG
n.6041_6046+5delinsCAGCAGGTTGG
n.874_879+5delinsCAGCAGGTTGG
c.6149_6154+5delinsCAGCAGGTTGG
n.5855_5860+5delinsCAGCAGGTTGG
c.6458_6463+5delinsCAGCAGGTTGG
c.5651_5656+5delinsCAGCAGGTTGG
c.1952_1957+5delinsCAGCAGGTTGG
c.6038_6043+5delinsCAGCAGGTTGG
c.5402_5407+5delinsCAGCAGGTTGG
c.2192_2197+5delinsCAGCAGGTTGG
5g.177292154delCA2499306828NSD1c.5586del (p.Ala1863GlnfsTer?)
c.1101del (p.Ala368GlnfsTer?)
n.6042del
n.875del
c.6150del (p.Ala2051GlnfsTer?)
n.5856del
c.6459del (p.Ala2154GlnfsTer?)
c.5652del (p.Ala1885GlnfsTer?)
c.1953del (p.Ala652GlnfsTer?)
c.6039del (p.Ala2014GlnfsTer?)
c.5403del (p.Ala1802GlnfsTer?)
c.2193del (p.Ala732GlnfsTer?)
5g.177292154A>CCA447740795NSD1c.5586A>C (p.Pro1862=)
c.1101A>C (p.Pro367=)
n.6042A>C
n.875A>C
c.6150A>C (p.Pro2050=)
n.5856A>C
c.6459A>C (p.Pro2153=)
c.5652A>C (p.Pro1884=)
c.1953A>C (p.Pro651=)
c.6039A>C (p.Pro2013=)
c.5403A>C (p.Pro1801=)
c.2193A>C (p.Pro731=)
5g.177292154A>GCA447740796NSD1c.5586A>G (p.Pro1862=)
c.1101A>G (p.Pro367=)
n.6042A>G
n.875A>G
c.6150A>G (p.Pro2050=)
n.5856A>G
c.6459A>G (p.Pro2153=)
c.5652A>G (p.Pro1884=)
c.1953A>G (p.Pro651=)
c.6039A>G (p.Pro2013=)
c.5403A>G (p.Pro1801=)
c.2193A>G (p.Pro731=)
 gnomAD v4
5g.177292154A>TCA447740797NSD1c.5586A>T (p.Pro1862=)
c.1101A>T (p.Pro367=)
n.6042A>T
n.875A>T
c.6150A>T (p.Pro2050=)
n.5856A>T
c.6459A>T (p.Pro2153=)
c.5652A>T (p.Pro1884=)
c.1953A>T (p.Pro651=)
c.6039A>T (p.Pro2013=)
c.5403A>T (p.Pro1801=)
c.2193A>T (p.Pro731=)
5g.177292154_177292163delCA319689NSD1c.5586_5590+5del
c.1101_1105+5del
n.6042_6046+5del
n.875_879+5del
c.6150_6154+5del
n.5856_5860+5del
c.6459_6463+5del
c.5652_5656+5del
c.1953_1957+5del
c.6039_6043+5del
c.5403_5407+5del
c.2193_2197+5del
 ClinVar dbSNP
5g.177292155G>ACA362321146NSD1c.5587G>A (p.Ala1863Thr)
c.1102G>A (p.Ala368Thr)
n.6043G>A
n.876G>A
c.6151G>A (p.Ala2051Thr)
n.5857G>A
c.6460G>A (p.Ala2154Thr)
c.5653G>A (p.Ala1885Thr)
c.1954G>A (p.Ala652Thr)
c.6040G>A (p.Ala2014Thr)
c.5404G>A (p.Ala1802Thr)
c.2194G>A (p.Ala732Thr)
5g.177292155G>CCA362321147NSD1c.5587G>C (p.Ala1863Pro)
c.1102G>C (p.Ala368Pro)
n.6043G>C
n.876G>C
c.6151G>C (p.Ala2051Pro)
n.5857G>C
c.6460G>C (p.Ala2154Pro)
c.5653G>C (p.Ala1885Pro)
c.1954G>C (p.Ala652Pro)
c.6040G>C (p.Ala2014Pro)
c.5404G>C (p.Ala1802Pro)
c.2194G>C (p.Ala732Pro)
5g.177292155G>TCA362321149NSD1c.5587G>T (p.Ala1863Ser)
c.1102G>T (p.Ala368Ser)
n.6043G>T
n.876G>T
c.6151G>T (p.Ala2051Ser)
n.5857G>T
c.6460G>T (p.Ala2154Ser)
c.5653G>T (p.Ala1885Ser)
c.1954G>T (p.Ala652Ser)
c.6040G>T (p.Ala2014Ser)
c.5404G>T (p.Ala1802Ser)
c.2194G>T (p.Ala732Ser)
 gnomAD v4
5g.177292156C>ACA362321151NSD1c.5588C>A (p.Ala1863Glu)
c.1103C>A (p.Ala368Glu)
n.6044C>A
n.877C>A
c.6152C>A (p.Ala2051Glu)
n.5858C>A
c.6461C>A (p.Ala2154Glu)
c.5654C>A (p.Ala1885Glu)
c.1955C>A (p.Ala652Glu)
c.6041C>A (p.Ala2014Glu)
c.5405C>A (p.Ala1802Glu)
c.2195C>A (p.Ala732Glu)
5g.177292156C>GCA362321153NSD1c.5588C>G (p.Ala1863Gly)
c.1103C>G (p.Ala368Gly)
n.6044C>G
n.877C>G
c.6152C>G (p.Ala2051Gly)
n.5858C>G
c.6461C>G (p.Ala2154Gly)
c.5654C>G (p.Ala1885Gly)
c.1955C>G (p.Ala652Gly)
c.6041C>G (p.Ala2014Gly)
c.5405C>G (p.Ala1802Gly)
c.2195C>G (p.Ala732Gly)
5g.177292156C>TCA362321155NSD1c.5588C>T (p.Ala1863Val)
c.1103C>T (p.Ala368Val)
n.6044C>T
n.877C>T
c.6152C>T (p.Ala2051Val)
n.5858C>T
c.6461C>T (p.Ala2154Val)
c.5654C>T (p.Ala1885Val)
c.1955C>T (p.Ala652Val)
c.6041C>T (p.Ala2014Val)
c.5405C>T (p.Ala1802Val)
c.2195C>T (p.Ala732Val)
 dbSNP
5g.177292157A>CCA447740799NSD1c.5589A>C (p.Ala1863=)
c.1104A>C (p.Ala368=)
n.6045A>C
n.878A>C
c.6153A>C (p.Ala2051=)
n.5859A>C
c.6462A>C (p.Ala2154=)
c.5655A>C (p.Ala1885=)
c.1956A>C (p.Ala652=)
c.6042A>C (p.Ala2014=)
c.5406A>C (p.Ala1802=)
c.2196A>C (p.Ala732=)
5g.177292157A>GCA447740800NSD1c.5589A>G (p.Ala1863=)
c.1104A>G (p.Ala368=)
n.6045A>G
n.878A>G
c.6153A>G (p.Ala2051=)
n.5859A>G
c.6462A>G (p.Ala2154=)
c.5655A>G (p.Ala1885=)
c.1956A>G (p.Ala652=)
c.6042A>G (p.Ala2014=)
c.5406A>G (p.Ala1802=)
c.2196A>G (p.Ala732=)
5g.177292157A>TCA447740798NSD1c.5589A>T (p.Ala1863=)
c.1104A>T (p.Ala368=)
n.6045A>T
n.878A>T
c.6153A>T (p.Ala2051=)
n.5859A>T
c.6462A>T (p.Ala2154=)
c.5655A>T (p.Ala1885=)
c.1956A>T (p.Ala652=)
c.6042A>T (p.Ala2014=)
c.5406A>T (p.Ala1802=)
c.2196A>T (p.Ala732=)
5g.177292158G>ACA362321156NSD1c.5590G>A (p.Gly1864Arg)
c.1105G>A (p.Gly369Arg)
n.6046G>A
n.879G>A
c.6154G>A (p.Gly2052Arg)
n.5860G>A
c.6463G>A (p.Gly2155Arg)
c.5656G>A (p.Gly1886Arg)
c.1957G>A (p.Gly653Arg)
c.6043G>A (p.Gly2015Arg)
c.5407G>A (p.Gly1803Arg)
c.2197G>A (p.Gly733Arg)
 ClinVar dbSNP
5g.177292158G>CCA362321158NSD1c.5590G>C (p.Gly1864Arg)
c.1105G>C (p.Gly369Arg)
n.6046G>C
n.879G>C
c.6154G>C (p.Gly2052Arg)
n.5860G>C
c.6463G>C (p.Gly2155Arg)
c.5656G>C (p.Gly1886Arg)
c.1957G>C (p.Gly653Arg)
c.6043G>C (p.Gly2015Arg)
c.5407G>C (p.Gly1803Arg)
c.2197G>C (p.Gly733Arg)
5g.177292158G=CA1603533089NSD1c.5590G= (p.Gly1864=)
c.1105G= (p.Gly369=)
n.6046G=
n.879G=
c.6154G= (p.Gly2052=)
n.5860G=
c.6463G= (p.Gly2155=)
c.5656G= (p.Gly1886=)
c.1957G= (p.Gly653=)
c.6043G= (p.Gly2015=)
c.5407G= (p.Gly1803=)
c.2197G= (p.Gly733=)
5g.177292158G>TCA362321159NSD1c.5590G>T (p.Gly1864Trp)
c.1105G>T (p.Gly369Trp)
n.6046G>T
n.879G>T
c.6154G>T (p.Gly2052Trp)
n.5860G>T
c.6463G>T (p.Gly2155Trp)
c.5656G>T (p.Gly1886Trp)
c.1957G>T (p.Gly653Trp)
c.6043G>T (p.Gly2015Trp)
c.5407G>T (p.Gly1803Trp)
c.2197G>T (p.Gly733Trp)
5g.177292159G>ACA223695NSD1c.5590+1G>A (n.5590+1G>A)
c.1105+1G>A (n.1105+1G>A)
n.6046+1G>A
n.879+1G>A
c.6154+1G>A (n.6154+1G>A)
n.5860+1G>A
c.6463+1G>A (n.6463+1G>A)
c.5656+1G>A (n.5656+1G>A)
c.1957+1G>A (n.1957+1G>A)
c.6043+1G>A (n.6043+1G>A)
c.5407+1G>A (n.5407+1G>A)
c.2197+1G>A (n.2197+1G>A)
 ClinVar dbSNP
5g.177292159G>CCA362321162NSD1c.5590+1G>C (n.5590+1G>C)
c.1105+1G>C (n.1105+1G>C)
n.6046+1G>C
n.879+1G>C
c.6154+1G>C (n.6154+1G>C)
n.5860+1G>C
c.6463+1G>C (n.6463+1G>C)
c.5656+1G>C (n.5656+1G>C)
c.1957+1G>C (n.1957+1G>C)
c.6043+1G>C (n.6043+1G>C)
c.5407+1G>C (n.5407+1G>C)
c.2197+1G>C (n.2197+1G>C)
5g.177292159G=CA1603533099NSD1c.5590+1G= (n.5590+1G=)
c.1105+1G= (n.1105+1G=)
n.6046+1G=
n.879+1G=
c.6154+1G= (n.6154+1G=)
n.5860+1G=
c.6463+1G= (n.6463+1G=)
c.5656+1G= (n.5656+1G=)
c.1957+1G= (n.1957+1G=)
c.6043+1G= (n.6043+1G=)
c.5407+1G= (n.5407+1G=)
c.2197+1G= (n.2197+1G=)
5g.177292159G>TCA362321164NSD1c.5590+1G>T (n.5590+1G>T)
c.1105+1G>T (n.1105+1G>T)
n.6046+1G>T
n.879+1G>T
c.6154+1G>T (n.6154+1G>T)
n.5860+1G>T
c.6463+1G>T (n.6463+1G>T)
c.5656+1G>T (n.5656+1G>T)
c.1957+1G>T (n.1957+1G>T)
c.6043+1G>T (n.6043+1G>T)
c.5407+1G>T (n.5407+1G>T)
c.2197+1G>T (n.2197+1G>T)
5g.177292160T>ACA362321168NSD1c.5590+2T>A (n.5590+2T>A)
c.1105+2T>A (n.1105+2T>A)
n.6046+2T>A
n.879+2T>A
c.6154+2T>A (n.6154+2T>A)
n.5860+2T>A
c.6463+2T>A (n.6463+2T>A)
c.5656+2T>A (n.5656+2T>A)
c.1957+2T>A (n.1957+2T>A)
c.6043+2T>A (n.6043+2T>A)
c.5407+2T>A (n.5407+2T>A)
c.2197+2T>A (n.2197+2T>A)
5g.177292160T>CCA362321173NSD1c.5590+2T>C (n.5590+2T>C)
c.1105+2T>C (n.1105+2T>C)
n.6046+2T>C
n.879+2T>C
c.6154+2T>C (n.6154+2T>C)
n.5860+2T>C
c.6463+2T>C (n.6463+2T>C)
c.5656+2T>C (n.5656+2T>C)
c.1957+2T>C (n.1957+2T>C)
c.6043+2T>C (n.6043+2T>C)
c.5407+2T>C (n.5407+2T>C)
c.2197+2T>C (n.2197+2T>C)
5g.177292160T>GCA362321170NSD1c.5590+2T>G (n.5590+2T>G)
c.1105+2T>G (n.1105+2T>G)
n.6046+2T>G
n.879+2T>G
c.6154+2T>G (n.6154+2T>G)
n.5860+2T>G
c.6463+2T>G (n.6463+2T>G)
c.5656+2T>G (n.5656+2T>G)
c.1957+2T>G (n.1957+2T>G)
c.6043+2T>G (n.6043+2T>G)
c.5407+2T>G (n.5407+2T>G)
c.2197+2T>G (n.2197+2T>G)
5g.177292162G>ACA1603533108NSD1c.5590+4G>A (n.5590+4G>A)
c.1105+4G>A (n.1105+4G>A)
n.6046+4G>A
n.879+4G>A
c.6154+4G>A (n.6154+4G>A)
n.5860+4G>A
c.6463+4G>A (n.6463+4G>A)
c.5656+4G>A (n.5656+4G>A)
c.1957+4G>A (n.1957+4G>A)
c.6043+4G>A (n.6043+4G>A)
c.5407+4G>A (n.5407+4G>A)
c.2197+4G>A (n.2197+4G>A)
 dbSNP
5g.177292162G=CA1603533106NSD1c.5590+4G= (n.5590+4G=)
c.1105+4G= (n.1105+4G=)
n.6046+4G=
n.879+4G=
c.6154+4G= (n.6154+4G=)
n.5860+4G=
c.6463+4G= (n.6463+4G=)
c.5656+4G= (n.5656+4G=)
c.1957+4G= (n.1957+4G=)
c.6043+4G= (n.6043+4G=)
c.5407+4G= (n.5407+4G=)
c.2197+4G= (n.2197+4G=)
5g.177292163G>ACA2695205744NSD1c.5590+5G>A (n.5590+5G>A)
c.1105+5G>A (n.1105+5G>A)
n.6046+5G>A
n.879+5G>A
c.6154+5G>A (n.6154+5G>A)
n.5860+5G>A
c.6463+5G>A (n.6463+5G>A)
c.5656+5G>A (n.5656+5G>A)
c.1957+5G>A (n.1957+5G>A)
c.6043+5G>A (n.6043+5G>A)
c.5407+5G>A (n.5407+5G>A)
c.2197+5G>A (n.2197+5G>A)
5g.177292163G>CCA16042596NSD1c.5590+5G>C (n.5590+5G>C)
c.1105+5G>C (n.1105+5G>C)
n.6046+5G>C
n.879+5G>C
c.6154+5G>C (n.6154+5G>C)
n.5860+5G>C
c.6463+5G>C (n.6463+5G>C)
c.5656+5G>C (n.5656+5G>C)
c.1957+5G>C (n.1957+5G>C)
c.6043+5G>C (n.6043+5G>C)
c.5407+5G>C (n.5407+5G>C)
c.2197+5G>C (n.2197+5G>C)
 ClinVar dbSNP
5g.177292163G=CA1603533112NSD1c.5590+5G= (n.5590+5G=)
c.1105+5G= (n.1105+5G=)
n.6046+5G=
n.879+5G=
c.6154+5G= (n.6154+5G=)
n.5860+5G=
c.6463+5G= (n.6463+5G=)
c.5656+5G= (n.5656+5G=)
c.1957+5G= (n.1957+5G=)
c.6043+5G= (n.6043+5G=)
c.5407+5G= (n.5407+5G=)
c.2197+5G= (n.2197+5G=)
5g.177292165G>ACA2711004123NSD1c.5590+7G>A (n.5590+7G>A)
c.1105+7G>A (n.1105+7G>A)
n.6046+7G>A
n.879+7G>A
c.6154+7G>A (n.6154+7G>A)
n.5860+7G>A
c.6463+7G>A (n.6463+7G>A)
c.5656+7G>A (n.5656+7G>A)
c.1957+7G>A (n.1957+7G>A)
c.6043+7G>A (n.6043+7G>A)
c.5407+7G>A (n.5407+7G>A)
c.2197+7G>A (n.2197+7G>A)
 dbSNP
5g.177292166C>ACA3577993NSD1c.5590+8C>A (n.5590+8C>A)
c.1105+8C>A (n.1105+8C>A)
n.6046+8C>A
n.879+8C>A
c.6154+8C>A (n.6154+8C>A)
n.5860+8C>A
c.6463+8C>A (n.6463+8C>A)
c.5656+8C>A (n.5656+8C>A)
c.1957+8C>A (n.1957+8C>A)
c.6043+8C>A (n.6043+8C>A)
c.5407+8C>A (n.5407+8C>A)
c.2197+8C>A (n.2197+8C>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.177292166C=CA1603533118NSD1c.5590+8C= (n.5590+8C=)
c.1105+8C= (n.1105+8C=)
n.6046+8C=
n.879+8C=
c.6154+8C= (n.6154+8C=)
n.5860+8C=
c.6463+8C= (n.6463+8C=)
c.5656+8C= (n.5656+8C=)
c.1957+8C= (n.1957+8C=)
c.6043+8C= (n.6043+8C=)
c.5407+8C= (n.5407+8C=)
c.2197+8C= (n.2197+8C=)
5g.177292166C>GCA2710733031NSD1c.5590+8C>G (n.5590+8C>G)
c.1105+8C>G (n.1105+8C>G)
n.6046+8C>G
n.879+8C>G
c.6154+8C>G (n.6154+8C>G)
n.5860+8C>G
c.6463+8C>G (n.6463+8C>G)
c.5656+8C>G (n.5656+8C>G)
c.1957+8C>G (n.1957+8C>G)
c.6043+8C>G (n.6043+8C>G)
c.5407+8C>G (n.5407+8C>G)
c.2197+8C>G (n.2197+8C>G)
 dbSNP
5g.177292166C>TCA2676691933NSD1c.5590+8C>T (n.5590+8C>T)
c.1105+8C>T (n.1105+8C>T)
n.6046+8C>T
n.879+8C>T
c.6154+8C>T (n.6154+8C>T)
n.5860+8C>T
c.6463+8C>T (n.6463+8C>T)
c.5656+8C>T (n.5656+8C>T)
c.1957+8C>T (n.1957+8C>T)
c.6043+8C>T (n.6043+8C>T)
c.5407+8C>T (n.5407+8C>T)
c.2197+8C>T (n.2197+8C>T)
 gnomAD v4
5g.177292167C>ACA2676691934NSD1c.5590+9C>A (n.5590+9C>A)
c.1105+9C>A (n.1105+9C>A)
n.6046+9C>A
n.879+9C>A
c.6154+9C>A (n.6154+9C>A)
n.5860+9C>A
c.6463+9C>A (n.6463+9C>A)
c.5656+9C>A (n.5656+9C>A)
c.1957+9C>A (n.1957+9C>A)
c.6043+9C>A (n.6043+9C>A)
c.5407+9C>A (n.5407+9C>A)
c.2197+9C>A (n.2197+9C>A)
 gnomAD v4
5g.177292171delCA2711004127NSD1c.5590+13del (n.5590+13del)
c.1105+13del (n.1105+13del)
n.6046+13del
n.879+13del
c.6154+13del (n.6154+13del)
n.5860+13del
c.6463+13del (n.6463+13del)
c.5656+13del (n.5656+13del)
c.1957+13del (n.1957+13del)
c.6043+13del (n.6043+13del)
c.5407+13del (n.5407+13del)
c.2197+13del (n.2197+13del)
 dbSNP
5g.177292170A>GCA2578495124NSD1c.5590+12A>G (n.5590+12A>G)
c.1105+12A>G (n.1105+12A>G)
n.6046+12A>G
n.879+12A>G
c.6154+12A>G (n.6154+12A>G)
n.5860+12A>G
c.6463+12A>G (n.6463+12A>G)
c.5656+12A>G (n.5656+12A>G)
c.1957+12A>G (n.1957+12A>G)
c.6043+12A>G (n.6043+12A>G)
c.5407+12A>G (n.5407+12A>G)
c.2197+12A>G (n.2197+12A>G)
5g.177292170A>TCA2769562762NSD1c.5590+12A>T (n.5590+12A>T)
c.1105+12A>T (n.1105+12A>T)
n.6046+12A>T
n.879+12A>T
c.6154+12A>T (n.6154+12A>T)
n.5860+12A>T
c.6463+12A>T (n.6463+12A>T)
c.5656+12A>T (n.5656+12A>T)
c.1957+12A>T (n.1957+12A>T)
c.6043+12A>T (n.6043+12A>T)
c.5407+12A>T (n.5407+12A>T)
c.2197+12A>T (n.2197+12A>T)
5g.177292172T>CCA1603533122NSD1c.5590+14T>C (n.5590+14T>C)
c.1105+14T>C (n.1105+14T>C)
n.6046+14T>C
n.879+14T>C
c.6154+14T>C (n.6154+14T>C)
n.5860+14T>C
c.6463+14T>C (n.6463+14T>C)
c.5656+14T>C (n.5656+14T>C)
c.1957+14T>C (n.1957+14T>C)
c.6043+14T>C (n.6043+14T>C)
c.5407+14T>C (n.5407+14T>C)
c.2197+14T>C (n.2197+14T>C)
 dbSNP gnomAD v4
5g.177292172T=CA1603533125NSD1c.5590+14T= (n.5590+14T=)
c.1105+14T= (n.1105+14T=)
n.6046+14T=
n.879+14T=
c.6154+14T= (n.6154+14T=)
n.5860+14T=
c.6463+14T= (n.6463+14T=)
c.5656+14T= (n.5656+14T=)
c.1957+14T= (n.1957+14T=)
c.6043+14T= (n.6043+14T=)
c.5407+14T= (n.5407+14T=)
c.2197+14T= (n.2197+14T=)
5g.177292173C=CA1603533126NSD1c.5590+15C= (n.5590+15C=)
c.1105+15C= (n.1105+15C=)
n.6046+15C=
n.879+15C=
c.6154+15C= (n.6154+15C=)
n.5860+15C=
c.6463+15C= (n.6463+15C=)
c.5656+15C= (n.5656+15C=)
c.1957+15C= (n.1957+15C=)
c.6043+15C= (n.6043+15C=)
c.5407+15C= (n.5407+15C=)
c.2197+15C= (n.2197+15C=)
5g.177292173C>GCA2676691935NSD1c.5590+15C>G (n.5590+15C>G)
c.1105+15C>G (n.1105+15C>G)
n.6046+15C>G
n.879+15C>G
c.6154+15C>G (n.6154+15C>G)
n.5860+15C>G
c.6463+15C>G (n.6463+15C>G)
c.5656+15C>G (n.5656+15C>G)
c.1957+15C>G (n.1957+15C>G)
c.6043+15C>G (n.6043+15C>G)
c.5407+15C>G (n.5407+15C>G)
c.2197+15C>G (n.2197+15C>G)
 gnomAD v4
5g.177292173C>TCA1603533127NSD1c.5590+15C>T (n.5590+15C>T)
c.1105+15C>T (n.1105+15C>T)
n.6046+15C>T
n.879+15C>T
c.6154+15C>T (n.6154+15C>T)
n.5860+15C>T
c.6463+15C>T (n.6463+15C>T)
c.5656+15C>T (n.5656+15C>T)
c.1957+15C>T (n.1957+15C>T)
c.6043+15C>T (n.6043+15C>T)
c.5407+15C>T (n.5407+15C>T)
c.2197+15C>T (n.2197+15C>T)
 dbSNP
5g.177292174C=CA1603533129NSD1c.5590+16C= (n.5590+16C=)
c.1105+16C= (n.1105+16C=)
n.6046+16C=
n.879+16C=
c.6154+16C= (n.6154+16C=)
n.5860+16C=
c.6463+16C= (n.6463+16C=)
c.5656+16C= (n.5656+16C=)
c.1957+16C= (n.1957+16C=)
c.6043+16C= (n.6043+16C=)
c.5407+16C= (n.5407+16C=)
c.2197+16C= (n.2197+16C=)
5g.177292174C>GCA564899190NSD1c.5590+16C>G (n.5590+16C>G)
c.1105+16C>G (n.1105+16C>G)
n.6046+16C>G
n.879+16C>G
c.6154+16C>G (n.6154+16C>G)
n.5860+16C>G
c.6463+16C>G (n.6463+16C>G)
c.5656+16C>G (n.5656+16C>G)
c.1957+16C>G (n.1957+16C>G)
c.6043+16C>G (n.6043+16C>G)
c.5407+16C>G (n.5407+16C>G)
c.2197+16C>G (n.2197+16C>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.177292174C>TCA2676691936NSD1c.5590+16C>T (n.5590+16C>T)
c.1105+16C>T (n.1105+16C>T)
n.6046+16C>T
n.879+16C>T
c.6154+16C>T (n.6154+16C>T)
n.5860+16C>T
c.6463+16C>T (n.6463+16C>T)
c.5656+16C>T (n.5656+16C>T)
c.1957+16C>T (n.1957+16C>T)
c.6043+16C>T (n.6043+16C>T)
c.5407+16C>T (n.5407+16C>T)
c.2197+16C>T (n.2197+16C>T)
 gnomAD v4
5g.177292175A=CA1603533130NSD1c.5590+17A= (n.5590+17A=)
c.1105+17A= (n.1105+17A=)
n.6046+17A=
n.879+17A=
c.6154+17A= (n.6154+17A=)
n.5860+17A=
c.6463+17A= (n.6463+17A=)
c.5656+17A= (n.5656+17A=)
c.1957+17A= (n.1957+17A=)
c.6043+17A= (n.6043+17A=)
c.5407+17A= (n.5407+17A=)
c.2197+17A= (n.2197+17A=)
5g.177292175A>GCA1603533131NSD1c.5590+17A>G (n.5590+17A>G)
c.1105+17A>G (n.1105+17A>G)
n.6046+17A>G
n.879+17A>G
c.6154+17A>G (n.6154+17A>G)
n.5860+17A>G
c.6463+17A>G (n.6463+17A>G)
c.5656+17A>G (n.5656+17A>G)
c.1957+17A>G (n.1957+17A>G)
c.6043+17A>G (n.6043+17A>G)
c.5407+17A>G (n.5407+17A>G)
c.2197+17A>G (n.2197+17A>G)
 dbSNP

Number of alleles fetched