Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.177273680G>ACA362308380NSD1c.4645G>A (p.Glu1549Lys)
c.160G>A (p.Glu54Lys)
n.5101G>A
n.267G>A
c.5209G>A (p.Glu1737Lys)
n.4915G>A
n.5665G>A
n.2437G>A
c.5518G>A (p.Glu1840Lys)
c.4711G>A (p.Glu1571Lys)
c.1012G>A (p.Glu338Lys)
c.5098G>A (p.Glu1700Lys)
c.4462G>A (p.Glu1488Lys)
c.1252G>A (p.Glu418Lys)
5g.177273680G>CCA362308382NSD1c.4645G>C (p.Glu1549Gln)
c.160G>C (p.Glu54Gln)
n.5101G>C
n.267G>C
c.5209G>C (p.Glu1737Gln)
n.4915G>C
n.5665G>C
n.2437G>C
c.5518G>C (p.Glu1840Gln)
c.4711G>C (p.Glu1571Gln)
c.1012G>C (p.Glu338Gln)
c.5098G>C (p.Glu1700Gln)
c.4462G>C (p.Glu1488Gln)
c.1252G>C (p.Glu418Gln)
5g.177273680G>TCA362308385NSD1c.4645G>T (p.Glu1549Ter)
c.160G>T (p.Glu54Ter)
n.5101G>T
n.267G>T
c.5209G>T (p.Glu1737Ter)
n.4915G>T
n.5665G>T
n.2437G>T
c.5518G>T (p.Glu1840Ter)
c.4711G>T (p.Glu1571Ter)
c.1012G>T (p.Glu338Ter)
c.5098G>T (p.Glu1700Ter)
c.4462G>T (p.Glu1488Ter)
c.1252G>T (p.Glu418Ter)
5g.177273681A>CCA362308388NSD1c.4646A>C (p.Glu1549Ala)
c.161A>C (p.Glu54Ala)
n.5102A>C
n.268A>C
c.5210A>C (p.Glu1737Ala)
n.4916A>C
n.5666A>C
n.2438A>C
c.5519A>C (p.Glu1840Ala)
c.4712A>C (p.Glu1571Ala)
c.1013A>C (p.Glu338Ala)
c.5099A>C (p.Glu1700Ala)
c.4463A>C (p.Glu1488Ala)
c.1253A>C (p.Glu418Ala)
5g.177273681A>GCA362308391NSD1c.4646A>G (p.Glu1549Gly)
c.161A>G (p.Glu54Gly)
n.5102A>G
n.268A>G
c.5210A>G (p.Glu1737Gly)
n.4916A>G
n.5666A>G
n.2438A>G
c.5519A>G (p.Glu1840Gly)
c.4712A>G (p.Glu1571Gly)
c.1013A>G (p.Glu338Gly)
c.5099A>G (p.Glu1700Gly)
c.4463A>G (p.Glu1488Gly)
c.1253A>G (p.Glu418Gly)
5g.177273681A>TCA362308392NSD1c.4646A>T (p.Glu1549Val)
c.161A>T (p.Glu54Val)
n.5102A>T
n.268A>T
c.5210A>T (p.Glu1737Val)
n.4916A>T
n.5666A>T
n.2438A>T
c.5519A>T (p.Glu1840Val)
c.4712A>T (p.Glu1571Val)
c.1013A>T (p.Glu338Val)
c.5099A>T (p.Glu1700Val)
c.4463A>T (p.Glu1488Val)
c.1253A>T (p.Glu418Val)
5g.177273682A=CA1603543500NSD1c.4647A= (p.Glu1549=)
c.162A= (p.Glu54=)
n.5103A=
n.269A=
c.5211A= (p.Glu1737=)
n.4917A=
n.5667A=
n.2439A=
c.5520A= (p.Glu1840=)
c.4713A= (p.Glu1571=)
c.1014A= (p.Glu338=)
c.5100A= (p.Glu1700=)
c.4464A= (p.Glu1488=)
c.1254A= (p.Glu418=)
5g.177273682A>CCA362308395NSD1c.4647A>C (p.Glu1549Asp)
c.162A>C (p.Glu54Asp)
n.5103A>C
n.269A>C
c.5211A>C (p.Glu1737Asp)
n.4917A>C
n.5667A>C
n.2439A>C
c.5520A>C (p.Glu1840Asp)
c.4713A>C (p.Glu1571Asp)
c.1014A>C (p.Glu338Asp)
c.5100A>C (p.Glu1700Asp)
c.4464A>C (p.Glu1488Asp)
c.1254A>C (p.Glu418Asp)
5g.177273682A>GCA223689NSD1c.4647A>G (p.Glu1549=)
c.162A>G (p.Glu54=)
n.5103A>G
n.269A>G
c.5211A>G (p.Glu1737=)
n.4917A>G
n.5667A>G
n.2439A>G
c.5520A>G (p.Glu1840=)
c.4713A>G (p.Glu1571=)
c.1014A>G (p.Glu338=)
c.5100A>G (p.Glu1700=)
c.4464A>G (p.Glu1488=)
c.1254A>G (p.Glu418=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.177273682A>TCA3577846NSD1c.4647A>T (p.Glu1549Asp)
c.162A>T (p.Glu54Asp)
n.5103A>T
n.269A>T
c.5211A>T (p.Glu1737Asp)
n.4917A>T
n.5667A>T
n.2439A>T
c.5520A>T (p.Glu1840Asp)
c.4713A>T (p.Glu1571Asp)
c.1014A>T (p.Glu338Asp)
c.5100A>T (p.Glu1700Asp)
c.4464A>T (p.Glu1488Asp)
c.1254A>T (p.Glu418Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.177273683G>ACA362308410NSD1c.4648G>A (p.Ala1550Thr)
c.163G>A (p.Ala55Thr)
n.5104G>A
n.270G>A
c.5212G>A (p.Ala1738Thr)
n.4918G>A
n.5668G>A
n.2440G>A
c.5521G>A (p.Ala1841Thr)
c.4714G>A (p.Ala1572Thr)
c.1015G>A (p.Ala339Thr)
c.5101G>A (p.Ala1701Thr)
c.4465G>A (p.Ala1489Thr)
c.1255G>A (p.Ala419Thr)
5g.177273683G>CCA16618180NSD1c.4648G>C (p.Ala1550Pro)
c.163G>C (p.Ala55Pro)
n.5104G>C
n.270G>C
c.5212G>C (p.Ala1738Pro)
n.4918G>C
n.5668G>C
n.2440G>C
c.5521G>C (p.Ala1841Pro)
c.4714G>C (p.Ala1572Pro)
c.1015G>C (p.Ala339Pro)
c.5101G>C (p.Ala1701Pro)
c.4465G>C (p.Ala1489Pro)
c.1255G>C (p.Ala419Pro)
 ClinVar dbSNP
5g.177273683G=CA1603543504NSD1c.4648G= (p.Ala1550=)
c.163G= (p.Ala55=)
n.5104G=
n.270G=
c.5212G= (p.Ala1738=)
n.4918G=
n.5668G=
n.2440G=
c.5521G= (p.Ala1841=)
c.4714G= (p.Ala1572=)
c.1015G= (p.Ala339=)
c.5101G= (p.Ala1701=)
c.4465G= (p.Ala1489=)
c.1255G= (p.Ala419=)
5g.177273683G>TCA362308405NSD1c.4648G>T (p.Ala1550Ser)
c.163G>T (p.Ala55Ser)
n.5104G>T
n.270G>T
c.5212G>T (p.Ala1738Ser)
n.4918G>T
n.5668G>T
n.2440G>T
c.5521G>T (p.Ala1841Ser)
c.4714G>T (p.Ala1572Ser)
c.1015G>T (p.Ala339Ser)
c.5101G>T (p.Ala1701Ser)
c.4465G>T (p.Ala1489Ser)
c.1255G>T (p.Ala419Ser)
5g.177273684C>ACA362308413NSD1c.4649C>A (p.Ala1550Asp)
c.164C>A (p.Ala55Asp)
n.5105C>A
n.271C>A
c.5213C>A (p.Ala1738Asp)
n.4919C>A
n.5669C>A
n.2441C>A
c.5522C>A (p.Ala1841Asp)
c.4715C>A (p.Ala1572Asp)
c.1016C>A (p.Ala339Asp)
c.5102C>A (p.Ala1701Asp)
c.4466C>A (p.Ala1489Asp)
c.1256C>A (p.Ala419Asp)
5g.177273684C>GCA362308415NSD1c.4649C>G (p.Ala1550Gly)
c.164C>G (p.Ala55Gly)
n.5105C>G
n.271C>G
c.5213C>G (p.Ala1738Gly)
n.4919C>G
n.5669C>G
n.2441C>G
c.5522C>G (p.Ala1841Gly)
c.4715C>G (p.Ala1572Gly)
c.1016C>G (p.Ala339Gly)
c.5102C>G (p.Ala1701Gly)
c.4466C>G (p.Ala1489Gly)
c.1256C>G (p.Ala419Gly)
5g.177273684C>TCA362308418NSD1c.4649C>T (p.Ala1550Val)
c.164C>T (p.Ala55Val)
n.5105C>T
n.271C>T
c.5213C>T (p.Ala1738Val)
n.4919C>T
n.5669C>T
n.2441C>T
c.5522C>T (p.Ala1841Val)
c.4715C>T (p.Ala1572Val)
c.1016C>T (p.Ala339Val)
c.5102C>T (p.Ala1701Val)
c.4466C>T (p.Ala1489Val)
c.1256C>T (p.Ala419Val)
5g.177273685T>ACA447735137NSD1c.4650T>A (p.Ala1550=)
c.165T>A (p.Ala55=)
n.5106T>A
n.272T>A
c.5214T>A (p.Ala1738=)
n.4920T>A
n.5670T>A
n.2442T>A
c.5523T>A (p.Ala1841=)
c.4716T>A (p.Ala1572=)
c.1017T>A (p.Ala339=)
c.5103T>A (p.Ala1701=)
c.4467T>A (p.Ala1489=)
c.1257T>A (p.Ala419=)
5g.177273685T>CCA447735139NSD1c.4650T>C (p.Ala1550=)
c.165T>C (p.Ala55=)
n.5106T>C
n.272T>C
c.5214T>C (p.Ala1738=)
n.4920T>C
n.5670T>C
n.2442T>C
c.5523T>C (p.Ala1841=)
c.4716T>C (p.Ala1572=)
c.1017T>C (p.Ala339=)
c.5103T>C (p.Ala1701=)
c.4467T>C (p.Ala1489=)
c.1257T>C (p.Ala419=)
5g.177273685T>GCA447735140NSD1c.4650T>G (p.Ala1550=)
c.165T>G (p.Ala55=)
n.5106T>G
n.272T>G
c.5214T>G (p.Ala1738=)
n.4920T>G
n.5670T>G
n.2442T>G
c.5523T>G (p.Ala1841=)
c.4716T>G (p.Ala1572=)
c.1017T>G (p.Ala339=)
c.5103T>G (p.Ala1701=)
c.4467T>G (p.Ala1489=)
c.1257T>G (p.Ala419=)
5g.177273686G>ACA362308422NSD1c.4651G>A (p.Ala1551Thr)
c.166G>A (p.Ala56Thr)
n.5107G>A
n.273G>A
c.5215G>A (p.Ala1739Thr)
n.4921G>A
n.5671G>A
n.2443G>A
c.5524G>A (p.Ala1842Thr)
c.4717G>A (p.Ala1573Thr)
c.1018G>A (p.Ala340Thr)
c.5104G>A (p.Ala1702Thr)
c.4468G>A (p.Ala1490Thr)
c.1258G>A (p.Ala420Thr)
 dbSNP
5g.177273686G>CCA362308424NSD1c.4651G>C (p.Ala1551Pro)
c.166G>C (p.Ala56Pro)
n.5107G>C
n.273G>C
c.5215G>C (p.Ala1739Pro)
n.4921G>C
n.5671G>C
n.2443G>C
c.5524G>C (p.Ala1842Pro)
c.4717G>C (p.Ala1573Pro)
c.1018G>C (p.Ala340Pro)
c.5104G>C (p.Ala1702Pro)
c.4468G>C (p.Ala1490Pro)
c.1258G>C (p.Ala420Pro)
5g.177273686G=CA1603543508NSD1c.4651G= (p.Ala1551=)
c.166G= (p.Ala56=)
n.5107G=
n.273G=
c.5215G= (p.Ala1739=)
n.4921G=
n.5671G=
n.2443G=
c.5524G= (p.Ala1842=)
c.4717G= (p.Ala1573=)
c.1018G= (p.Ala340=)
c.5104G= (p.Ala1702=)
c.4468G= (p.Ala1490=)
c.1258G= (p.Ala420=)
5g.177273686G>TCA362308425NSD1c.4651G>T (p.Ala1551Ser)
c.166G>T (p.Ala56Ser)
n.5107G>T
n.273G>T
c.5215G>T (p.Ala1739Ser)
n.4921G>T
n.5671G>T
n.2443G>T
c.5524G>T (p.Ala1842Ser)
c.4717G>T (p.Ala1573Ser)
c.1018G>T (p.Ala340Ser)
c.5104G>T (p.Ala1702Ser)
c.4468G>T (p.Ala1490Ser)
c.1258G>T (p.Ala420Ser)
5g.177273687C>ACA362308428NSD1c.4652C>A (p.Ala1551Glu)
c.167C>A (p.Ala56Glu)
n.5108C>A
n.274C>A
c.5216C>A (p.Ala1739Glu)
n.4922C>A
n.5672C>A
n.2444C>A
c.5525C>A (p.Ala1842Glu)
c.4718C>A (p.Ala1573Glu)
c.1019C>A (p.Ala340Glu)
c.5105C>A (p.Ala1702Glu)
c.4469C>A (p.Ala1490Glu)
c.1259C>A (p.Ala420Glu)
5g.177273687C>GCA362308430NSD1c.4652C>G (p.Ala1551Gly)
c.167C>G (p.Ala56Gly)
n.5108C>G
n.274C>G
c.5216C>G (p.Ala1739Gly)
n.4922C>G
n.5672C>G
n.2444C>G
c.5525C>G (p.Ala1842Gly)
c.4718C>G (p.Ala1573Gly)
c.1019C>G (p.Ala340Gly)
c.5105C>G (p.Ala1702Gly)
c.4469C>G (p.Ala1490Gly)
c.1259C>G (p.Ala420Gly)
5g.177273687C>TCA362308432NSD1c.4652C>T (p.Ala1551Val)
c.167C>T (p.Ala56Val)
n.5108C>T
n.274C>T
c.5216C>T (p.Ala1739Val)
n.4922C>T
n.5672C>T
n.2444C>T
c.5525C>T (p.Ala1842Val)
c.4718C>T (p.Ala1573Val)
c.1019C>T (p.Ala340Val)
c.5105C>T (p.Ala1702Val)
c.4469C>T (p.Ala1490Val)
c.1259C>T (p.Ala420Val)
 dbSNP gnomAD v4
5g.177273688A=CA1603543512NSD1c.4653A= (p.Ala1551=)
c.168A= (p.Ala56=)
n.5109A=
n.275A=
c.5217A= (p.Ala1739=)
n.4923A=
n.5673A=
n.2445A=
c.5526A= (p.Ala1842=)
c.4719A= (p.Ala1573=)
c.1020A= (p.Ala340=)
c.5106A= (p.Ala1702=)
c.4470A= (p.Ala1490=)
c.1260A= (p.Ala420=)
5g.177273688A>CCA447735141NSD1c.4653A>C (p.Ala1551=)
c.168A>C (p.Ala56=)
n.5109A>C
n.275A>C
c.5217A>C (p.Ala1739=)
n.4923A>C
n.5673A>C
n.2445A>C
c.5526A>C (p.Ala1842=)
c.4719A>C (p.Ala1573=)
c.1020A>C (p.Ala340=)
c.5106A>C (p.Ala1702=)
c.4470A>C (p.Ala1490=)
c.1260A>C (p.Ala420=)
 gnomAD v4
5g.177273688A>GCA447735142NSD1c.4653A>G (p.Ala1551=)
c.168A>G (p.Ala56=)
n.5109A>G
n.275A>G
c.5217A>G (p.Ala1739=)
n.4923A>G
n.5673A>G
n.2445A>G
c.5526A>G (p.Ala1842=)
c.4719A>G (p.Ala1573=)
c.1020A>G (p.Ala340=)
c.5106A>G (p.Ala1702=)
c.4470A>G (p.Ala1490=)
c.1260A>G (p.Ala420=)
5g.177273688A>TCA447735143NSD1c.4653A>T (p.Ala1551=)
c.168A>T (p.Ala56=)
n.5109A>T
n.275A>T
c.5217A>T (p.Ala1739=)
n.4923A>T
n.5673A>T
n.2445A>T
c.5526A>T (p.Ala1842=)
c.4719A>T (p.Ala1573=)
c.1020A>T (p.Ala340=)
c.5106A>T (p.Ala1702=)
c.4470A>T (p.Ala1490=)
c.1260A>T (p.Ala420=)
 dbSNP gnomAD v2 gnomAD v4
5g.177273689G>ACA362308436NSD1c.4654G>A (p.Ala1552Thr)
c.169G>A (p.Ala57Thr)
n.5110G>A
n.276G>A
c.5218G>A (p.Ala1740Thr)
n.4924G>A
n.5674G>A
n.2446G>A
c.5527G>A (p.Ala1843Thr)
c.4720G>A (p.Ala1574Thr)
c.1021G>A (p.Ala341Thr)
c.5107G>A (p.Ala1703Thr)
c.4471G>A (p.Ala1491Thr)
c.1261G>A (p.Ala421Thr)
5g.177273689G>CCA362308438NSD1c.4654G>C (p.Ala1552Pro)
c.169G>C (p.Ala57Pro)
n.5110G>C
n.276G>C
c.5218G>C (p.Ala1740Pro)
n.4924G>C
n.5674G>C
n.2446G>C
c.5527G>C (p.Ala1843Pro)
c.4720G>C (p.Ala1574Pro)
c.1021G>C (p.Ala341Pro)
c.5107G>C (p.Ala1703Pro)
c.4471G>C (p.Ala1491Pro)
c.1261G>C (p.Ala421Pro)
5g.177273689G>TCA362308441NSD1c.4654G>T (p.Ala1552Ser)
c.169G>T (p.Ala57Ser)
n.5110G>T
n.276G>T
c.5218G>T (p.Ala1740Ser)
n.4924G>T
n.5674G>T
n.2446G>T
c.5527G>T (p.Ala1843Ser)
c.4720G>T (p.Ala1574Ser)
c.1021G>T (p.Ala341Ser)
c.5107G>T (p.Ala1703Ser)
c.4471G>T (p.Ala1491Ser)
c.1261G>T (p.Ala421Ser)
5g.177273690C>ACA362308453NSD1c.4655C>A (p.Ala1552Glu)
c.170C>A (p.Ala57Glu)
n.5111C>A
n.277C>A
c.5219C>A (p.Ala1740Glu)
n.4925C>A
n.5675C>A
n.2447C>A
c.5528C>A (p.Ala1843Glu)
c.4721C>A (p.Ala1574Glu)
c.1022C>A (p.Ala341Glu)
c.5108C>A (p.Ala1703Glu)
c.4472C>A (p.Ala1491Glu)
c.1262C>A (p.Ala421Glu)
 dbSNP
5g.177273690C>GCA362308448NSD1c.4655C>G (p.Ala1552Gly)
c.170C>G (p.Ala57Gly)
n.5111C>G
n.277C>G
c.5219C>G (p.Ala1740Gly)
n.4925C>G
n.5675C>G
n.2447C>G
c.5528C>G (p.Ala1843Gly)
c.4721C>G (p.Ala1574Gly)
c.1022C>G (p.Ala341Gly)
c.5108C>G (p.Ala1703Gly)
c.4472C>G (p.Ala1491Gly)
c.1262C>G (p.Ala421Gly)
5g.177273690C>TCA362308445NSD1c.4655C>T (p.Ala1552Val)
c.170C>T (p.Ala57Val)
n.5111C>T
n.277C>T
c.5219C>T (p.Ala1740Val)
n.4925C>T
n.5675C>T
n.2447C>T
c.5528C>T (p.Ala1843Val)
c.4721C>T (p.Ala1574Val)
c.1022C>T (p.Ala341Val)
c.5108C>T (p.Ala1703Val)
c.4472C>T (p.Ala1491Val)
c.1262C>T (p.Ala421Val)
5g.177273691A>CCA447735144NSD1c.4656A>C (p.Ala1552=)
c.171A>C (p.Ala57=)
n.5112A>C
n.278A>C
c.5220A>C (p.Ala1740=)
n.4926A>C
n.5676A>C
n.2448A>C
c.5529A>C (p.Ala1843=)
c.4722A>C (p.Ala1574=)
c.1023A>C (p.Ala341=)
c.5109A>C (p.Ala1703=)
c.4473A>C (p.Ala1491=)
c.1263A>C (p.Ala421=)
5g.177273691A>GCA447735145NSD1c.4656A>G (p.Ala1552=)
c.171A>G (p.Ala57=)
n.5112A>G
n.278A>G
c.5220A>G (p.Ala1740=)
n.4926A>G
n.5676A>G
n.2448A>G
c.5529A>G (p.Ala1843=)
c.4722A>G (p.Ala1574=)
c.1023A>G (p.Ala341=)
c.5109A>G (p.Ala1703=)
c.4473A>G (p.Ala1491=)
c.1263A>G (p.Ala421=)
5g.177273691A>TCA447735146NSD1c.4656A>T (p.Ala1552=)
c.171A>T (p.Ala57=)
n.5112A>T
n.278A>T
c.5220A>T (p.Ala1740=)
n.4926A>T
n.5676A>T
n.2448A>T
c.5529A>T (p.Ala1843=)
c.4722A>T (p.Ala1574=)
c.1023A>T (p.Ala341=)
c.5109A>T (p.Ala1703=)
c.4473A>T (p.Ala1491=)
c.1263A>T (p.Ala421=)
5g.177273692A>CCA447735147NSD1c.4657A>C (p.Arg1553=)
c.172A>C (p.Arg58=)
n.5113A>C
n.279A>C
c.5221A>C (p.Arg1741=)
n.4927A>C
n.5677A>C
n.2449A>C
c.5530A>C (p.Arg1844=)
c.4723A>C (p.Arg1575=)
c.1024A>C (p.Arg342=)
c.5110A>C (p.Arg1704=)
c.4474A>C (p.Arg1492=)
c.1264A>C (p.Arg422=)
5g.177273692A>GCA362308456NSD1c.4657A>G (p.Arg1553Gly)
c.172A>G (p.Arg58Gly)
n.5113A>G
n.279A>G
c.5221A>G (p.Arg1741Gly)
n.4927A>G
n.5677A>G
n.2449A>G
c.5530A>G (p.Arg1844Gly)
c.4723A>G (p.Arg1575Gly)
c.1024A>G (p.Arg342Gly)
c.5110A>G (p.Arg1704Gly)
c.4474A>G (p.Arg1492Gly)
c.1264A>G (p.Arg422Gly)
5g.177273692A>TCA362308458NSD1c.4657A>T (p.Arg1553Trp)
c.172A>T (p.Arg58Trp)
n.5113A>T
n.279A>T
c.5221A>T (p.Arg1741Trp)
n.4927A>T
n.5677A>T
n.2449A>T
c.5530A>T (p.Arg1844Trp)
c.4723A>T (p.Arg1575Trp)
c.1024A>T (p.Arg342Trp)
c.5110A>T (p.Arg1704Trp)
c.4474A>T (p.Arg1492Trp)
c.1264A>T (p.Arg422Trp)
5g.177273693G>ACA362308461NSD1c.4658G>A (p.Arg1553Lys)
c.173G>A (p.Arg58Lys)
n.5114G>A
n.280G>A
c.5222G>A (p.Arg1741Lys)
n.4928G>A
n.5678G>A
n.2450G>A
c.5531G>A (p.Arg1844Lys)
c.4724G>A (p.Arg1575Lys)
c.1025G>A (p.Arg342Lys)
c.5111G>A (p.Arg1704Lys)
c.4475G>A (p.Arg1492Lys)
c.1265G>A (p.Arg422Lys)
 gnomAD v4
5g.177273693G>CCA362308462NSD1c.4658G>C (p.Arg1553Thr)
c.173G>C (p.Arg58Thr)
n.5114G>C
n.280G>C
c.5222G>C (p.Arg1741Thr)
n.4928G>C
n.5678G>C
n.2450G>C
c.5531G>C (p.Arg1844Thr)
c.4724G>C (p.Arg1575Thr)
c.1025G>C (p.Arg342Thr)
c.5111G>C (p.Arg1704Thr)
c.4475G>C (p.Arg1492Thr)
c.1265G>C (p.Arg422Thr)
5g.177273693G>TCA362308463NSD1c.4658G>T (p.Arg1553Met)
c.173G>T (p.Arg58Met)
n.5114G>T
n.280G>T
c.5222G>T (p.Arg1741Met)
n.4928G>T
n.5678G>T
n.2450G>T
c.5531G>T (p.Arg1844Met)
c.4724G>T (p.Arg1575Met)
c.1025G>T (p.Arg342Met)
c.5111G>T (p.Arg1704Met)
c.4475G>T (p.Arg1492Met)
c.1265G>T (p.Arg422Met)
5g.177273694G>ACA3577847NSD1c.4659G>A (p.Arg1553=)
c.174G>A (p.Arg58=)
n.5115G>A
n.281G>A
c.5223G>A (p.Arg1741=)
n.4929G>A
n.5679G>A
n.2451G>A
c.5532G>A (p.Arg1844=)
c.4725G>A (p.Arg1575=)
c.1026G>A (p.Arg342=)
c.5112G>A (p.Arg1704=)
c.4476G>A (p.Arg1492=)
c.1266G>A (p.Arg422=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.177273694G>CCA362308464NSD1c.4659G>C (p.Arg1553Ser)
c.174G>C (p.Arg58Ser)
n.5115G>C
n.281G>C
c.5223G>C (p.Arg1741Ser)
n.4929G>C
n.5679G>C
n.2451G>C
c.5532G>C (p.Arg1844Ser)
c.4725G>C (p.Arg1575Ser)
c.1026G>C (p.Arg342Ser)
c.5112G>C (p.Arg1704Ser)
c.4476G>C (p.Arg1492Ser)
c.1266G>C (p.Arg422Ser)
 COSMIC COSMIC
5g.177273694G=CA1603543515NSD1c.4659G= (p.Arg1553=)
c.174G= (p.Arg58=)
n.5115G=
n.281G=
c.5223G= (p.Arg1741=)
n.4929G=
n.5679G=
n.2451G=
c.5532G= (p.Arg1844=)
c.4725G= (p.Arg1575=)
c.1026G= (p.Arg342=)
c.5112G= (p.Arg1704=)
c.4476G= (p.Arg1492=)
c.1266G= (p.Arg422=)
5g.177273694G>TCA362308468NSD1c.4659G>T (p.Arg1553Ser)
c.174G>T (p.Arg58Ser)
n.5115G>T
n.281G>T
c.5223G>T (p.Arg1741Ser)
n.4929G>T
n.5679G>T
n.2451G>T
c.5532G>T (p.Arg1844Ser)
c.4725G>T (p.Arg1575Ser)
c.1026G>T (p.Arg342Ser)
c.5112G>T (p.Arg1704Ser)
c.4476G>T (p.Arg1492Ser)
c.1266G>T (p.Arg422Ser)
5g.177273695T>ACA362308472NSD1c.4660T>A (p.Phe1554Ile)
c.175T>A (p.Phe59Ile)
n.5116T>A
n.282T>A
c.5224T>A (p.Phe1742Ile)
n.4930T>A
n.5680T>A
n.2452T>A
c.5533T>A (p.Phe1845Ile)
c.4726T>A (p.Phe1576Ile)
c.1027T>A (p.Phe343Ile)
c.5113T>A (p.Phe1705Ile)
c.4477T>A (p.Phe1493Ile)
c.1267T>A (p.Phe423Ile)
5g.177273695T>CCA362308474NSD1c.4660T>C (p.Phe1554Leu)
c.175T>C (p.Phe59Leu)
n.5116T>C
n.282T>C
c.5224T>C (p.Phe1742Leu)
n.4930T>C
n.5680T>C
n.2452T>C
c.5533T>C (p.Phe1845Leu)
c.4726T>C (p.Phe1576Leu)
c.1027T>C (p.Phe343Leu)
c.5113T>C (p.Phe1705Leu)
c.4477T>C (p.Phe1493Leu)
c.1267T>C (p.Phe423Leu)
5g.177273695T>GCA362308476NSD1c.4660T>G (p.Phe1554Val)
c.175T>G (p.Phe59Val)
n.5116T>G
n.282T>G
c.5224T>G (p.Phe1742Val)
n.4930T>G
n.5680T>G
n.2452T>G
c.5533T>G (p.Phe1845Val)
c.4726T>G (p.Phe1576Val)
c.1027T>G (p.Phe343Val)
c.5113T>G (p.Phe1705Val)
c.4477T>G (p.Phe1493Val)
c.1267T>G (p.Phe423Val)
5g.177273696T>ACA362308479NSD1c.4661T>A (p.Phe1554Tyr)
c.176T>A (p.Phe59Tyr)
n.5117T>A
n.283T>A
c.5225T>A (p.Phe1742Tyr)
n.4931T>A
n.5681T>A
n.2453T>A
c.5534T>A (p.Phe1845Tyr)
c.4727T>A (p.Phe1576Tyr)
c.1028T>A (p.Phe343Tyr)
c.5114T>A (p.Phe1705Tyr)
c.4478T>A (p.Phe1493Tyr)
c.1268T>A (p.Phe423Tyr)
5g.177273696T>CCA362308482NSD1c.4661T>C (p.Phe1554Ser)
c.176T>C (p.Phe59Ser)
n.5117T>C
n.283T>C
c.5225T>C (p.Phe1742Ser)
n.4931T>C
n.5681T>C
n.2453T>C
c.5534T>C (p.Phe1845Ser)
c.4727T>C (p.Phe1576Ser)
c.1028T>C (p.Phe343Ser)
c.5114T>C (p.Phe1705Ser)
c.4478T>C (p.Phe1493Ser)
c.1268T>C (p.Phe423Ser)
5g.177273696T>GCA362308484NSD1c.4661T>G (p.Phe1554Cys)
c.176T>G (p.Phe59Cys)
n.5117T>G
n.283T>G
c.5225T>G (p.Phe1742Cys)
n.4931T>G
n.5681T>G
n.2453T>G
c.5534T>G (p.Phe1845Cys)
c.4727T>G (p.Phe1576Cys)
c.1028T>G (p.Phe343Cys)
c.5114T>G (p.Phe1705Cys)
c.4478T>G (p.Phe1493Cys)
c.1268T>G (p.Phe423Cys)
 gnomAD v4
5g.177273697T>ACA362308488NSD1c.4662T>A (p.Phe1554Leu)
c.177T>A (p.Phe59Leu)
n.5118T>A
n.284T>A
c.5226T>A (p.Phe1742Leu)
n.4932T>A
n.5682T>A
n.2454T>A
c.5535T>A (p.Phe1845Leu)
c.4728T>A (p.Phe1576Leu)
c.1029T>A (p.Phe343Leu)
c.5115T>A (p.Phe1705Leu)
c.4479T>A (p.Phe1493Leu)
c.1269T>A (p.Phe423Leu)
5g.177273697T>CCA447735148NSD1c.4662T>C (p.Phe1554=)
c.177T>C (p.Phe59=)
n.5118T>C
n.284T>C
c.5226T>C (p.Phe1742=)
n.4932T>C
n.5682T>C
n.2454T>C
c.5535T>C (p.Phe1845=)
c.4728T>C (p.Phe1576=)
c.1029T>C (p.Phe343=)
c.5115T>C (p.Phe1705=)
c.4479T>C (p.Phe1493=)
c.1269T>C (p.Phe423=)
5g.177273697T>GCA362308491NSD1c.4662T>G (p.Phe1554Leu)
c.177T>G (p.Phe59Leu)
n.5118T>G
n.284T>G
c.5226T>G (p.Phe1742Leu)
n.4932T>G
n.5682T>G
n.2454T>G
c.5535T>G (p.Phe1845Leu)
c.4728T>G (p.Phe1576Leu)
c.1029T>G (p.Phe343Leu)
c.5115T>G (p.Phe1705Leu)
c.4479T>G (p.Phe1493Leu)
c.1269T>G (p.Phe423Leu)
5g.177273698G>ACA362308494NSD1c.4663G>A (p.Glu1555Lys)
c.178G>A (p.Glu60Lys)
n.5119G>A
n.285G>A
c.5227G>A (p.Glu1743Lys)
n.4933G>A
n.5683G>A
n.2455G>A
c.5536G>A (p.Glu1846Lys)
c.4729G>A (p.Glu1577Lys)
c.1030G>A (p.Glu344Lys)
c.5116G>A (p.Glu1706Lys)
c.4480G>A (p.Glu1494Lys)
c.1270G>A (p.Glu424Lys)
5g.177273698G>CCA362308495NSD1c.4663G>C (p.Glu1555Gln)
c.178G>C (p.Glu60Gln)
n.5119G>C
n.285G>C
c.5227G>C (p.Glu1743Gln)
n.4933G>C
n.5683G>C
n.2455G>C
c.5536G>C (p.Glu1846Gln)
c.4729G>C (p.Glu1577Gln)
c.1030G>C (p.Glu344Gln)
c.5116G>C (p.Glu1706Gln)
c.4480G>C (p.Glu1494Gln)
c.1270G>C (p.Glu424Gln)
5g.177273698G>TCA362308498NSD1c.4663G>T (p.Glu1555Ter)
c.178G>T (p.Glu60Ter)
n.5119G>T
n.285G>T
c.5227G>T (p.Glu1743Ter)
n.4933G>T
n.5683G>T
n.2455G>T
c.5536G>T (p.Glu1846Ter)
c.4729G>T (p.Glu1577Ter)
c.1030G>T (p.Glu344Ter)
c.5116G>T (p.Glu1706Ter)
c.4480G>T (p.Glu1494Ter)
c.1270G>T (p.Glu424Ter)
5g.177273699A>CCA362308502NSD1c.4664A>C (p.Glu1555Ala)
c.179A>C (p.Glu60Ala)
n.5120A>C
n.286A>C
c.5228A>C (p.Glu1743Ala)
n.4934A>C
n.5684A>C
n.2456A>C
c.5537A>C (p.Glu1846Ala)
c.4730A>C (p.Glu1577Ala)
c.1031A>C (p.Glu344Ala)
c.5117A>C (p.Glu1706Ala)
c.4481A>C (p.Glu1494Ala)
c.1271A>C (p.Glu424Ala)
5g.177273699A>GCA362308516NSD1c.4664A>G (p.Glu1555Gly)
c.179A>G (p.Glu60Gly)
n.5120A>G
n.286A>G
c.5228A>G (p.Glu1743Gly)
n.4934A>G
n.5684A>G
n.2456A>G
c.5537A>G (p.Glu1846Gly)
c.4730A>G (p.Glu1577Gly)
c.1031A>G (p.Glu344Gly)
c.5117A>G (p.Glu1706Gly)
c.4481A>G (p.Glu1494Gly)
c.1271A>G (p.Glu424Gly)
5g.177273699A>TCA362308519NSD1c.4664A>T (p.Glu1555Val)
c.179A>T (p.Glu60Val)
n.5120A>T
n.286A>T
c.5228A>T (p.Glu1743Val)
n.4934A>T
n.5684A>T
n.2456A>T
c.5537A>T (p.Glu1846Val)
c.4730A>T (p.Glu1577Val)
c.1031A>T (p.Glu344Val)
c.5117A>T (p.Glu1706Val)
c.4481A>T (p.Glu1494Val)
c.1271A>T (p.Glu424Val)
5g.177273700G>ACA447735149NSD1c.4665G>A (p.Glu1555=)
c.180G>A (p.Glu60=)
n.5121G>A
n.287G>A
c.5229G>A (p.Glu1743=)
n.4935G>A
n.5685G>A
n.2457G>A
c.5538G>A (p.Glu1846=)
c.4731G>A (p.Glu1577=)
c.1032G>A (p.Glu344=)
c.5118G>A (p.Glu1706=)
c.4482G>A (p.Glu1494=)
c.1272G>A (p.Glu424=)
5g.177273700G>CCA362308522NSD1c.4665G>C (p.Glu1555Asp)
c.180G>C (p.Glu60Asp)
n.5121G>C
n.287G>C
c.5229G>C (p.Glu1743Asp)
n.4935G>C
n.5685G>C
n.2457G>C
c.5538G>C (p.Glu1846Asp)
c.4731G>C (p.Glu1577Asp)
c.1032G>C (p.Glu344Asp)
c.5118G>C (p.Glu1706Asp)
c.4482G>C (p.Glu1494Asp)
c.1272G>C (p.Glu424Asp)
5g.177273700G>TCA362308524NSD1c.4665G>T (p.Glu1555Asp)
c.180G>T (p.Glu60Asp)
n.5121G>T
n.287G>T
c.5229G>T (p.Glu1743Asp)
n.4935G>T
n.5685G>T
n.2457G>T
c.5538G>T (p.Glu1846Asp)
c.4731G>T (p.Glu1577Asp)
c.1032G>T (p.Glu344Asp)
c.5118G>T (p.Glu1706Asp)
c.4482G>T (p.Glu1494Asp)
c.1272G>T (p.Glu424Asp)
5g.177273701G>ACA362308527NSD1c.4666G>A (p.Glu1556Lys)
c.181G>A (p.Glu61Lys)
n.5122G>A
n.288G>A
c.5230G>A (p.Glu1744Lys)
n.4936G>A
n.5686G>A
n.2458G>A
c.5539G>A (p.Glu1847Lys)
c.4732G>A (p.Glu1578Lys)
c.1033G>A (p.Glu345Lys)
c.5119G>A (p.Glu1707Lys)
c.4483G>A (p.Glu1495Lys)
c.1273G>A (p.Glu425Lys)
5g.177273701G>CCA362308530NSD1c.4666G>C (p.Glu1556Gln)
c.181G>C (p.Glu61Gln)
n.5122G>C
n.288G>C
c.5230G>C (p.Glu1744Gln)
n.4936G>C
n.5686G>C
n.2458G>C
c.5539G>C (p.Glu1847Gln)
c.4732G>C (p.Glu1578Gln)
c.1033G>C (p.Glu345Gln)
c.5119G>C (p.Glu1707Gln)
c.4483G>C (p.Glu1495Gln)
c.1273G>C (p.Glu425Gln)
 gnomAD v4
5g.177273701G>TCA362308532NSD1c.4666G>T (p.Glu1556Ter)
c.181G>T (p.Glu61Ter)
n.5122G>T
n.288G>T
c.5230G>T (p.Glu1744Ter)
n.4936G>T
n.5686G>T
n.2458G>T
c.5539G>T (p.Glu1847Ter)
c.4732G>T (p.Glu1578Ter)
c.1033G>T (p.Glu345Ter)
c.5119G>T (p.Glu1707Ter)
c.4483G>T (p.Glu1495Ter)
c.1273G>T (p.Glu425Ter)
5g.177273702A=CA1603543517NSD1c.4667A= (p.Glu1556=)
c.182A= (p.Glu61=)
n.5123A=
n.289A=
c.5231A= (p.Glu1744=)
n.4937A=
n.5687A=
n.2459A=
c.5540A= (p.Glu1847=)
c.4733A= (p.Glu1578=)
c.1034A= (p.Glu345=)
c.5120A= (p.Glu1707=)
c.4484A= (p.Glu1495=)
c.1274A= (p.Glu425=)
5g.177273702A>CCA362308543NSD1c.4667A>C (p.Glu1556Ala)
c.182A>C (p.Glu61Ala)
n.5123A>C
n.289A>C
c.5231A>C (p.Glu1744Ala)
n.4937A>C
n.5687A>C
n.2459A>C
c.5540A>C (p.Glu1847Ala)
c.4733A>C (p.Glu1578Ala)
c.1034A>C (p.Glu345Ala)
c.5120A>C (p.Glu1707Ala)
c.4484A>C (p.Glu1495Ala)
c.1274A>C (p.Glu425Ala)
5g.177273702A>GCA362308542NSD1c.4667A>G (p.Glu1556Gly)
c.182A>G (p.Glu61Gly)
n.5123A>G
n.289A>G
c.5231A>G (p.Glu1744Gly)
n.4937A>G
n.5687A>G
n.2459A>G
c.5540A>G (p.Glu1847Gly)
c.4733A>G (p.Glu1578Gly)
c.1034A>G (p.Glu345Gly)
c.5120A>G (p.Glu1707Gly)
c.4484A>G (p.Glu1495Gly)
c.1274A>G (p.Glu425Gly)
 dbSNP gnomAD v3 gnomAD v4
5g.177273702A>TCA362308536NSD1c.4667A>T (p.Glu1556Val)
c.182A>T (p.Glu61Val)
n.5123A>T
n.289A>T
c.5231A>T (p.Glu1744Val)
n.4937A>T
n.5687A>T
n.2459A>T
c.5540A>T (p.Glu1847Val)
c.4733A>T (p.Glu1578Val)
c.1034A>T (p.Glu345Val)
c.5120A>T (p.Glu1707Val)
c.4484A>T (p.Glu1495Val)
c.1274A>T (p.Glu425Val)
5g.177273703A>CCA362308546NSD1c.4668A>C (p.Glu1556Asp)
c.183A>C (p.Glu61Asp)
n.5124A>C
n.290A>C
c.5232A>C (p.Glu1744Asp)
n.4938A>C
n.5688A>C
n.2460A>C
c.5541A>C (p.Glu1847Asp)
c.4734A>C (p.Glu1578Asp)
c.1035A>C (p.Glu345Asp)
c.5121A>C (p.Glu1707Asp)
c.4485A>C (p.Glu1495Asp)
c.1275A>C (p.Glu425Asp)
5g.177273703A>GCA447735150NSD1c.4668A>G (p.Glu1556=)
c.183A>G (p.Glu61=)
n.5124A>G
n.290A>G
c.5232A>G (p.Glu1744=)
n.4938A>G
n.5688A>G
n.2460A>G
c.5541A>G (p.Glu1847=)
c.4734A>G (p.Glu1578=)
c.1035A>G (p.Glu345=)
c.5121A>G (p.Glu1707=)
c.4485A>G (p.Glu1495=)
c.1275A>G (p.Glu425=)
5g.177273703A>TCA362308548NSD1c.4668A>T (p.Glu1556Asp)
c.183A>T (p.Glu61Asp)
n.5124A>T
n.290A>T
c.5232A>T (p.Glu1744Asp)
n.4938A>T
n.5688A>T
n.2460A>T
c.5541A>T (p.Glu1847Asp)
c.4734A>T (p.Glu1578Asp)
c.1035A>T (p.Glu345Asp)
c.5121A>T (p.Glu1707Asp)
c.4485A>T (p.Glu1495Asp)
c.1275A>T (p.Glu425Asp)
5g.177273704T>ACA362308551NSD1c.4669T>A (p.Leu1557Ile)
c.184T>A (p.Leu62Ile)
n.5125T>A
n.291T>A
c.5233T>A (p.Leu1745Ile)
n.4939T>A
n.5689T>A
n.2461T>A
c.5542T>A (p.Leu1848Ile)
c.4735T>A (p.Leu1579Ile)
c.1036T>A (p.Leu346Ile)
c.5122T>A (p.Leu1708Ile)
c.4486T>A (p.Leu1496Ile)
c.1276T>A (p.Leu426Ile)
5g.177273704T>CCA447735151NSD1c.4669T>C (p.Leu1557=)
c.184T>C (p.Leu62=)
n.5125T>C
n.291T>C
c.5233T>C (p.Leu1745=)
n.4939T>C
n.5689T>C
n.2461T>C
c.5542T>C (p.Leu1848=)
c.4735T>C (p.Leu1579=)
c.1036T>C (p.Leu346=)
c.5122T>C (p.Leu1708=)
c.4486T>C (p.Leu1496=)
c.1276T>C (p.Leu426=)
5g.177273704T>GCA362308554NSD1c.4669T>G (p.Leu1557Val)
c.184T>G (p.Leu62Val)
n.5125T>G
n.291T>G
c.5233T>G (p.Leu1745Val)
n.4939T>G
n.5689T>G
n.2461T>G
c.5542T>G (p.Leu1848Val)
c.4735T>G (p.Leu1579Val)
c.1036T>G (p.Leu346Val)
c.5122T>G (p.Leu1708Val)
c.4486T>G (p.Leu1496Val)
c.1276T>G (p.Leu426Val)
5g.177273705T>ACA362308557NSD1c.4670T>A (p.Leu1557Ter)
c.185T>A (p.Leu62Ter)
n.5126T>A
n.292T>A
c.5234T>A (p.Leu1745Ter)
n.4940T>A
n.5690T>A
n.2462T>A
c.5543T>A (p.Leu1848Ter)
c.4736T>A (p.Leu1579Ter)
c.1037T>A (p.Leu346Ter)
c.5123T>A (p.Leu1708Ter)
c.4487T>A (p.Leu1496Ter)
c.1277T>A (p.Leu426Ter)
5g.177273705T>CCA362308560NSD1c.4670T>C (p.Leu1557Ser)
c.185T>C (p.Leu62Ser)
n.5126T>C
n.292T>C
c.5234T>C (p.Leu1745Ser)
n.4940T>C
n.5690T>C
n.2462T>C
c.5543T>C (p.Leu1848Ser)
c.4736T>C (p.Leu1579Ser)
c.1037T>C (p.Leu346Ser)
c.5123T>C (p.Leu1708Ser)
c.4487T>C (p.Leu1496Ser)
c.1277T>C (p.Leu426Ser)
5g.177273705T>GCA362308562NSD1c.4670T>G (p.Leu1557Ter)
c.185T>G (p.Leu62Ter)
n.5126T>G
n.292T>G
c.5234T>G (p.Leu1745Ter)
n.4940T>G
n.5690T>G
n.2462T>G
c.5543T>G (p.Leu1848Ter)
c.4736T>G (p.Leu1579Ter)
c.1037T>G (p.Leu346Ter)
c.5123T>G (p.Leu1708Ter)
c.4487T>G (p.Leu1496Ter)
c.1277T>G (p.Leu426Ter)
5g.177273706A>CCA362308568NSD1c.4671A>C (p.Leu1557Phe)
c.186A>C (p.Leu62Phe)
n.5127A>C
n.293A>C
c.5235A>C (p.Leu1745Phe)
n.4941A>C
n.5691A>C
n.2463A>C
c.5544A>C (p.Leu1848Phe)
c.4737A>C (p.Leu1579Phe)
c.1038A>C (p.Leu346Phe)
c.5124A>C (p.Leu1708Phe)
c.4488A>C (p.Leu1496Phe)
c.1278A>C (p.Leu426Phe)
5g.177273706A>GCA447735153NSD1c.4671A>G (p.Leu1557=)
c.186A>G (p.Leu62=)
n.5127A>G
n.293A>G
c.5235A>G (p.Leu1745=)
n.4941A>G
n.5691A>G
n.2463A>G
c.5544A>G (p.Leu1848=)
c.4737A>G (p.Leu1579=)
c.1038A>G (p.Leu346=)
c.5124A>G (p.Leu1708=)
c.4488A>G (p.Leu1496=)
c.1278A>G (p.Leu426=)
5g.177273706A>TCA362308571NSD1c.4671A>T (p.Leu1557Phe)
c.186A>T (p.Leu62Phe)
n.5127A>T
n.293A>T
c.5235A>T (p.Leu1745Phe)
n.4941A>T
n.5691A>T
n.2463A>T
c.5544A>T (p.Leu1848Phe)
c.4737A>T (p.Leu1579Phe)
c.1038A>T (p.Leu346Phe)
c.5124A>T (p.Leu1708Phe)
c.4488A>T (p.Leu1496Phe)
c.1278A>T (p.Leu426Phe)
5g.177273707A>CCA362308578NSD1c.4672A>C (p.Lys1558Gln)
c.187A>C (p.Lys63Gln)
n.5128A>C
n.294A>C
c.5236A>C (p.Lys1746Gln)
n.4942A>C
n.5692A>C
n.2464A>C
c.5545A>C (p.Lys1849Gln)
c.4738A>C (p.Lys1580Gln)
c.1039A>C (p.Lys347Gln)
c.5125A>C (p.Lys1709Gln)
c.4489A>C (p.Lys1497Gln)
c.1279A>C (p.Lys427Gln)
5g.177273707A>GCA362308574NSD1c.4672A>G (p.Lys1558Glu)
c.187A>G (p.Lys63Glu)
n.5128A>G
n.294A>G
c.5236A>G (p.Lys1746Glu)
n.4942A>G
n.5692A>G
n.2464A>G
c.5545A>G (p.Lys1849Glu)
c.4738A>G (p.Lys1580Glu)
c.1039A>G (p.Lys347Glu)
c.5125A>G (p.Lys1709Glu)
c.4489A>G (p.Lys1497Glu)
c.1279A>G (p.Lys427Glu)
5g.177273707A>TCA362308577NSD1c.4672A>T (p.Lys1558Ter)
c.187A>T (p.Lys63Ter)
n.5128A>T
n.294A>T
c.5236A>T (p.Lys1746Ter)
n.4942A>T
n.5692A>T
n.2464A>T
c.5545A>T (p.Lys1849Ter)
c.4738A>T (p.Lys1580Ter)
c.1039A>T (p.Lys347Ter)
c.5125A>T (p.Lys1709Ter)
c.4489A>T (p.Lys1497Ter)
c.1279A>T (p.Lys427Ter)
5g.177273708A>CCA362308582NSD1c.4673A>C (p.Lys1558Thr)
c.188A>C (p.Lys63Thr)
n.5129A>C
n.295A>C
c.5237A>C (p.Lys1746Thr)
n.4943A>C
n.5693A>C
n.2465A>C
c.5546A>C (p.Lys1849Thr)
c.4739A>C (p.Lys1580Thr)
c.1040A>C (p.Lys347Thr)
c.5126A>C (p.Lys1709Thr)
c.4490A>C (p.Lys1497Thr)
c.1280A>C (p.Lys427Thr)
5g.177273708A>GCA362308584NSD1c.4673A>G (p.Lys1558Arg)
c.188A>G (p.Lys63Arg)
n.5129A>G
n.295A>G
c.5237A>G (p.Lys1746Arg)
n.4943A>G
n.5693A>G
n.2465A>G
c.5546A>G (p.Lys1849Arg)
c.4739A>G (p.Lys1580Arg)
c.1040A>G (p.Lys347Arg)
c.5126A>G (p.Lys1709Arg)
c.4490A>G (p.Lys1497Arg)
c.1280A>G (p.Lys427Arg)
 gnomAD v4
5g.177273708A>TCA362308586NSD1c.4673A>T (p.Lys1558Met)
c.188A>T (p.Lys63Met)
n.5129A>T
n.295A>T
c.5237A>T (p.Lys1746Met)
n.4943A>T
n.5693A>T
n.2465A>T
c.5546A>T (p.Lys1849Met)
c.4739A>T (p.Lys1580Met)
c.1040A>T (p.Lys347Met)
c.5126A>T (p.Lys1709Met)
c.4490A>T (p.Lys1497Met)
c.1280A>T (p.Lys427Met)
5g.177273709G>ACA3577848NSD1c.4674G>A (p.Lys1558=)
c.189G>A (p.Lys63=)
n.5130G>A
n.296G>A
c.5238G>A (p.Lys1746=)
n.4944G>A
n.5694G>A
n.2466G>A
c.5547G>A (p.Lys1849=)
c.4740G>A (p.Lys1580=)
c.1041G>A (p.Lys347=)
c.5127G>A (p.Lys1709=)
c.4491G>A (p.Lys1497=)
c.1281G>A (p.Lys427=)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.177273709G>CCA362308601NSD1c.4674G>C (p.Lys1558Asn)
c.189G>C (p.Lys63Asn)
n.5130G>C
n.296G>C
c.5238G>C (p.Lys1746Asn)
n.4944G>C
n.5694G>C
n.2466G>C
c.5547G>C (p.Lys1849Asn)
c.4740G>C (p.Lys1580Asn)
c.1041G>C (p.Lys347Asn)
c.5127G>C (p.Lys1709Asn)
c.4491G>C (p.Lys1497Asn)
c.1281G>C (p.Lys427Asn)
5g.177273709G=CA1603543521NSD1c.4674G= (p.Lys1558=)
c.189G= (p.Lys63=)
n.5130G=
n.296G=
c.5238G= (p.Lys1746=)
n.4944G=
n.5694G=
n.2466G=
c.5547G= (p.Lys1849=)
c.4740G= (p.Lys1580=)
c.1041G= (p.Lys347=)
c.5127G= (p.Lys1709=)
c.4491G= (p.Lys1497=)
c.1281G= (p.Lys427=)
5g.177273709G>TCA362308602NSD1c.4674G>T (p.Lys1558Asn)
c.189G>T (p.Lys63Asn)
n.5130G>T
n.296G>T
c.5238G>T (p.Lys1746Asn)
n.4944G>T
n.5694G>T
n.2466G>T
c.5547G>T (p.Lys1849Asn)
c.4740G>T (p.Lys1580Asn)
c.1041G>T (p.Lys347Asn)
c.5127G>T (p.Lys1709Asn)
c.4491G>T (p.Lys1497Asn)
c.1281G>T (p.Lys427Asn)
5g.177273710G>ACA362308608NSD1c.4675G>A (p.Ala1559Thr)
c.190G>A (p.Ala64Thr)
n.5131G>A
n.297G>A
c.5239G>A (p.Ala1747Thr)
n.4945G>A
n.5695G>A
n.2467G>A
c.5548G>A (p.Ala1850Thr)
c.4741G>A (p.Ala1581Thr)
c.1042G>A (p.Ala348Thr)
c.5128G>A (p.Ala1710Thr)
c.4492G>A (p.Ala1498Thr)
c.1282G>A (p.Ala428Thr)
5g.177273710G>CCA362308612NSD1c.4675G>C (p.Ala1559Pro)
c.190G>C (p.Ala64Pro)
n.5131G>C
n.297G>C
c.5239G>C (p.Ala1747Pro)
n.4945G>C
n.5695G>C
n.2467G>C
c.5548G>C (p.Ala1850Pro)
c.4741G>C (p.Ala1581Pro)
c.1042G>C (p.Ala348Pro)
c.5128G>C (p.Ala1710Pro)
c.4492G>C (p.Ala1498Pro)
c.1282G>C (p.Ala428Pro)
5g.177273710G=CA1603543523NSD1c.4675G= (p.Ala1559=)
c.190G= (p.Ala64=)
n.5131G=
n.297G=
c.5239G= (p.Ala1747=)
n.4945G=
n.5695G=
n.2467G=
c.5548G= (p.Ala1850=)
c.4741G= (p.Ala1581=)
c.1042G= (p.Ala348=)
c.5128G= (p.Ala1710=)
c.4492G= (p.Ala1498=)
c.1282G= (p.Ala428=)
5g.177273710G>TCA362308610NSD1c.4675G>T (p.Ala1559Ser)
c.190G>T (p.Ala64Ser)
n.5131G>T
n.297G>T
c.5239G>T (p.Ala1747Ser)
n.4945G>T
n.5695G>T
n.2467G>T
c.5548G>T (p.Ala1850Ser)
c.4741G>T (p.Ala1581Ser)
c.1042G>T (p.Ala348Ser)
c.5128G>T (p.Ala1710Ser)
c.4492G>T (p.Ala1498Ser)
c.1282G>T (p.Ala428Ser)
 dbSNP gnomAD v2 gnomAD v4
5g.177273711C>ACA362308616NSD1c.4676C>A (p.Ala1559Asp)
c.191C>A (p.Ala64Asp)
n.5132C>A
n.298C>A
c.5240C>A (p.Ala1747Asp)
n.4946C>A
n.5696C>A
n.2468C>A
c.5549C>A (p.Ala1850Asp)
c.4742C>A (p.Ala1581Asp)
c.1043C>A (p.Ala348Asp)
c.5129C>A (p.Ala1710Asp)
c.4493C>A (p.Ala1498Asp)
c.1283C>A (p.Ala428Asp)
5g.177273711C>GCA362308618NSD1c.4676C>G (p.Ala1559Gly)
c.191C>G (p.Ala64Gly)
n.5132C>G
n.298C>G
c.5240C>G (p.Ala1747Gly)
n.4946C>G
n.5696C>G
n.2468C>G
c.5549C>G (p.Ala1850Gly)
c.4742C>G (p.Ala1581Gly)
c.1043C>G (p.Ala348Gly)
c.5129C>G (p.Ala1710Gly)
c.4493C>G (p.Ala1498Gly)
c.1283C>G (p.Ala428Gly)
5g.177273711C>TCA362308621NSD1c.4676C>T (p.Ala1559Val)
c.191C>T (p.Ala64Val)
n.5132C>T
n.298C>T
c.5240C>T (p.Ala1747Val)
n.4946C>T
n.5696C>T
n.2468C>T
c.5549C>T (p.Ala1850Val)
c.4742C>T (p.Ala1581Val)
c.1043C>T (p.Ala348Val)
c.5129C>T (p.Ala1710Val)
c.4493C>T (p.Ala1498Val)
c.1283C>T (p.Ala428Val)
 ClinVar dbSNP
5g.177273712C>ACA447735154NSD1c.4677C>A (p.Ala1559=)
c.192C>A (p.Ala64=)
n.5133C>A
n.299C>A
c.5241C>A (p.Ala1747=)
n.4947C>A
n.5697C>A
n.2469C>A
c.5550C>A (p.Ala1850=)
c.4743C>A (p.Ala1581=)
c.1044C>A (p.Ala348=)
c.5130C>A (p.Ala1710=)
c.4494C>A (p.Ala1498=)
c.1284C>A (p.Ala428=)
5g.177273712C=CA1603543524NSD1c.4677C= (p.Ala1559=)
c.192C= (p.Ala64=)
n.5133C=
n.299C=
c.5241C= (p.Ala1747=)
n.4947C=
n.5697C=
n.2469C=
c.5550C= (p.Ala1850=)
c.4743C= (p.Ala1581=)
c.1044C= (p.Ala348=)
c.5130C= (p.Ala1710=)
c.4494C= (p.Ala1498=)
c.1284C= (p.Ala428=)
5g.177273712C>GCA447735155NSD1c.4677C>G (p.Ala1559=)
c.192C>G (p.Ala64=)
n.5133C>G
n.299C>G
c.5241C>G (p.Ala1747=)
n.4947C>G
n.5697C>G
n.2469C>G
c.5550C>G (p.Ala1850=)
c.4743C>G (p.Ala1581=)
c.1044C>G (p.Ala348=)
c.5130C>G (p.Ala1710=)
c.4494C>G (p.Ala1498=)
c.1284C>G (p.Ala428=)
 dbSNP
5g.177273712C>TCA447735156NSD1c.4677C>T (p.Ala1559=)
c.192C>T (p.Ala64=)
n.5133C>T
n.299C>T
c.5241C>T (p.Ala1747=)
n.4947C>T
n.5697C>T
n.2469C>T
c.5550C>T (p.Ala1850=)
c.4743C>T (p.Ala1581=)
c.1044C>T (p.Ala348=)
c.5130C>T (p.Ala1710=)
c.4494C>T (p.Ala1498=)
c.1284C>T (p.Ala428=)
5g.177273713C>ACA362308625NSD1c.4678C>A (p.Gln1560Lys)
c.193C>A (p.Gln65Lys)
n.5134C>A
n.300C>A
c.5242C>A (p.Gln1748Lys)
n.4948C>A
n.5698C>A
n.2470C>A
c.5551C>A (p.Gln1851Lys)
c.4744C>A (p.Gln1582Lys)
c.1045C>A (p.Gln349Lys)
c.5131C>A (p.Gln1711Lys)
c.4495C>A (p.Gln1499Lys)
c.1285C>A (p.Gln429Lys)
5g.177273713C>GCA362308628NSD1c.4678C>G (p.Gln1560Glu)
c.193C>G (p.Gln65Glu)
n.5134C>G
n.300C>G
c.5242C>G (p.Gln1748Glu)
n.4948C>G
n.5698C>G
n.2470C>G
c.5551C>G (p.Gln1851Glu)
c.4744C>G (p.Gln1582Glu)
c.1045C>G (p.Gln349Glu)
c.5131C>G (p.Gln1711Glu)
c.4495C>G (p.Gln1499Glu)
c.1285C>G (p.Gln429Glu)
5g.177273713C>TCA362308631NSD1c.4678C>T (p.Gln1560Ter)
c.193C>T (p.Gln65Ter)
n.5134C>T
n.300C>T
c.5242C>T (p.Gln1748Ter)
n.4948C>T
n.5698C>T
n.2470C>T
c.5551C>T (p.Gln1851Ter)
c.4744C>T (p.Gln1582Ter)
c.1045C>T (p.Gln349Ter)
c.5131C>T (p.Gln1711Ter)
c.4495C>T (p.Gln1499Ter)
c.1285C>T (p.Gln429Ter)
5g.177273714A>CCA362308634NSD1c.4679A>C (p.Gln1560Pro)
c.194A>C (p.Gln65Pro)
n.5135A>C
n.301A>C
c.5243A>C (p.Gln1748Pro)
n.4949A>C
n.5699A>C
n.2471A>C
c.5552A>C (p.Gln1851Pro)
c.4745A>C (p.Gln1582Pro)
c.1046A>C (p.Gln349Pro)
c.5132A>C (p.Gln1711Pro)
c.4496A>C (p.Gln1499Pro)
c.1286A>C (p.Gln429Pro)
 ClinVar dbSNP
5g.177273714A>GCA362308637NSD1c.4679A>G (p.Gln1560Arg)
c.194A>G (p.Gln65Arg)
n.5135A>G
n.301A>G
c.5243A>G (p.Gln1748Arg)
n.4949A>G
n.5699A>G
n.2471A>G
c.5552A>G (p.Gln1851Arg)
c.4745A>G (p.Gln1582Arg)
c.1046A>G (p.Gln349Arg)
c.5132A>G (p.Gln1711Arg)
c.4496A>G (p.Gln1499Arg)
c.1286A>G (p.Gln429Arg)
 COSMIC COSMIC
5g.177273714A>TCA362308639NSD1c.4679A>T (p.Gln1560Leu)
c.194A>T (p.Gln65Leu)
n.5135A>T
n.301A>T
c.5243A>T (p.Gln1748Leu)
n.4949A>T
n.5699A>T
n.2471A>T
c.5552A>T (p.Gln1851Leu)
c.4745A>T (p.Gln1582Leu)
c.1046A>T (p.Gln349Leu)
c.5132A>T (p.Gln1711Leu)
c.4496A>T (p.Gln1499Leu)
c.1286A>T (p.Gln429Leu)
5g.177273718delCA2711004065NSD1c.4683del (p.Glu1562SerfsTer2)
c.198del (p.Glu67SerfsTer2)
n.5139del
n.305del
c.5247del (p.Glu1750SerfsTer2)
n.4953del
n.5703del
n.2475del
c.5556del (p.Glu1853SerfsTer2)
c.4749del (p.Glu1584SerfsTer2)
c.1050del (p.Glu351SerfsTer2)
c.5136del (p.Glu1713SerfsTer2)
c.4500del (p.Glu1501SerfsTer2)
c.1290del (p.Glu431SerfsTer2)
 dbSNP
5g.177273715A=CA1603543526NSD1c.4680A= (p.Gln1560=)
c.195A= (p.Gln65=)
n.5136A=
n.302A=
c.5244A= (p.Gln1748=)
n.4950A=
n.5700A=
n.2472A=
c.5553A= (p.Gln1851=)
c.4746A= (p.Gln1582=)
c.1047A= (p.Gln349=)
c.5133A= (p.Gln1711=)
c.4497A= (p.Gln1499=)
c.1287A= (p.Gln429=)
5g.177273715A>CCA362308645NSD1c.4680A>C (p.Gln1560His)
c.195A>C (p.Gln65His)
n.5136A>C
n.302A>C
c.5244A>C (p.Gln1748His)
n.4950A>C
n.5700A>C
n.2472A>C
c.5553A>C (p.Gln1851His)
c.4746A>C (p.Gln1582His)
c.1047A>C (p.Gln349His)
c.5133A>C (p.Gln1711His)
c.4497A>C (p.Gln1499His)
c.1287A>C (p.Gln429His)
5g.177273715A>GCA3577849NSD1c.4680A>G (p.Gln1560=)
c.195A>G (p.Gln65=)
n.5136A>G
n.302A>G
c.5244A>G (p.Gln1748=)
n.4950A>G
n.5700A>G
n.2472A>G
c.5553A>G (p.Gln1851=)
c.4746A>G (p.Gln1582=)
c.1047A>G (p.Gln349=)
c.5133A>G (p.Gln1711=)
c.4497A>G (p.Gln1499=)
c.1287A>G (p.Gln429=)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.177273715A>TCA362308648NSD1c.4680A>T (p.Gln1560His)
c.195A>T (p.Gln65His)
n.5136A>T
n.302A>T
c.5244A>T (p.Gln1748His)
n.4950A>T
n.5700A>T
n.2472A>T
c.5553A>T (p.Gln1851His)
c.4746A>T (p.Gln1582His)
c.1047A>T (p.Gln349His)
c.5133A>T (p.Gln1711His)
c.4497A>T (p.Gln1499His)
c.1287A>T (p.Gln429His)
5g.177273716A=CA1603543527NSD1c.4681A= (p.Lys1561=)
c.196A= (p.Lys66=)
n.5137A=
n.303A=
c.5245A= (p.Lys1749=)
n.4951A=
n.5701A=
n.2473A=
c.5554A= (p.Lys1852=)
c.4747A= (p.Lys1583=)
c.1048A= (p.Lys350=)
c.5134A= (p.Lys1712=)
c.4498A= (p.Lys1500=)
c.1288A= (p.Lys430=)
5g.177273716A>CCA362308652NSD1c.4681A>C (p.Lys1561Gln)
c.196A>C (p.Lys66Gln)
n.5137A>C
n.303A>C
c.5245A>C (p.Lys1749Gln)
n.4951A>C
n.5701A>C
n.2473A>C
c.5554A>C (p.Lys1852Gln)
c.4747A>C (p.Lys1583Gln)
c.1048A>C (p.Lys350Gln)
c.5134A>C (p.Lys1712Gln)
c.4498A>C (p.Lys1500Gln)
c.1288A>C (p.Lys430Gln)
5g.177273716A>GCA362308657NSD1c.4681A>G (p.Lys1561Glu)
c.196A>G (p.Lys66Glu)
n.5137A>G
n.303A>G
c.5245A>G (p.Lys1749Glu)
n.4951A>G
n.5701A>G
n.2473A>G
c.5554A>G (p.Lys1852Glu)
c.4747A>G (p.Lys1583Glu)
c.1048A>G (p.Lys350Glu)
c.5134A>G (p.Lys1712Glu)
c.4498A>G (p.Lys1500Glu)
c.1288A>G (p.Lys430Glu)
 dbSNP gnomAD v3 gnomAD v4
5g.177273716A>TCA362308654NSD1c.4681A>T (p.Lys1561Ter)
c.196A>T (p.Lys66Ter)
n.5137A>T
n.303A>T
c.5245A>T (p.Lys1749Ter)
n.4951A>T
n.5701A>T
n.2473A>T
c.5554A>T (p.Lys1852Ter)
c.4747A>T (p.Lys1583Ter)
c.1048A>T (p.Lys350Ter)
c.5134A>T (p.Lys1712Ter)
c.4498A>T (p.Lys1500Ter)
c.1288A>T (p.Lys430Ter)
5g.177273717A>CCA362308659NSD1c.4682A>C (p.Lys1561Thr)
c.197A>C (p.Lys66Thr)
n.5138A>C
n.304A>C
c.5246A>C (p.Lys1749Thr)
n.4952A>C
n.5702A>C
n.2474A>C
c.5555A>C (p.Lys1852Thr)
c.4748A>C (p.Lys1583Thr)
c.1049A>C (p.Lys350Thr)
c.5135A>C (p.Lys1712Thr)
c.4499A>C (p.Lys1500Thr)
c.1289A>C (p.Lys430Thr)
5g.177273717A>GCA362308661NSD1c.4682A>G (p.Lys1561Arg)
c.197A>G (p.Lys66Arg)
n.5138A>G
n.304A>G
c.5246A>G (p.Lys1749Arg)
n.4952A>G
n.5702A>G
n.2474A>G
c.5555A>G (p.Lys1852Arg)
c.4748A>G (p.Lys1583Arg)
c.1049A>G (p.Lys350Arg)
c.5135A>G (p.Lys1712Arg)
c.4499A>G (p.Lys1500Arg)
c.1289A>G (p.Lys430Arg)
5g.177273717A>TCA362308664NSD1c.4682A>T (p.Lys1561Ile)
c.197A>T (p.Lys66Ile)
n.5138A>T
n.304A>T
c.5246A>T (p.Lys1749Ile)
n.4952A>T
n.5702A>T
n.2474A>T
c.5555A>T (p.Lys1852Ile)
c.4748A>T (p.Lys1583Ile)
c.1049A>T (p.Lys350Ile)
c.5135A>T (p.Lys1712Ile)
c.4499A>T (p.Lys1500Ile)
c.1289A>T (p.Lys430Ile)
5g.177273718A>CCA362308667NSD1c.4683A>C (p.Lys1561Asn)
c.198A>C (p.Lys66Asn)
n.5139A>C
n.305A>C
c.5247A>C (p.Lys1749Asn)
n.4953A>C
n.5703A>C
n.2475A>C
c.5556A>C (p.Lys1852Asn)
c.4749A>C (p.Lys1583Asn)
c.1050A>C (p.Lys350Asn)
c.5136A>C (p.Lys1712Asn)
c.4500A>C (p.Lys1500Asn)
c.1290A>C (p.Lys430Asn)
5g.177273718A>GCA447735157NSD1c.4683A>G (p.Lys1561=)
c.198A>G (p.Lys66=)
n.5139A>G
n.305A>G
c.5247A>G (p.Lys1749=)
n.4953A>G
n.5703A>G
n.2475A>G
c.5556A>G (p.Lys1852=)
c.4749A>G (p.Lys1583=)
c.1050A>G (p.Lys350=)
c.5136A>G (p.Lys1712=)
c.4500A>G (p.Lys1500=)
c.1290A>G (p.Lys430=)
5g.177273718A>TCA362308670NSD1c.4683A>T (p.Lys1561Asn)
c.198A>T (p.Lys66Asn)
n.5139A>T
n.305A>T
c.5247A>T (p.Lys1749Asn)
n.4953A>T
n.5703A>T
n.2475A>T
c.5556A>T (p.Lys1852Asn)
c.4749A>T (p.Lys1583Asn)
c.1050A>T (p.Lys350Asn)
c.5136A>T (p.Lys1712Asn)
c.4500A>T (p.Lys1500Asn)
c.1290A>T (p.Lys430Asn)
5g.177273719G>ACA362308674NSD1c.4684G>A (p.Glu1562Lys)
c.199G>A (p.Glu67Lys)
n.5140G>A
n.306G>A
c.5248G>A (p.Glu1750Lys)
n.4954G>A
n.5704G>A
n.2476G>A
c.5557G>A (p.Glu1853Lys)
c.4750G>A (p.Glu1584Lys)
c.1051G>A (p.Glu351Lys)
c.5137G>A (p.Glu1713Lys)
c.4501G>A (p.Glu1501Lys)
c.1291G>A (p.Glu431Lys)
 gnomAD v4
5g.177273719G>CCA362308677NSD1c.4684G>C (p.Glu1562Gln)
c.199G>C (p.Glu67Gln)
n.5140G>C
n.306G>C
c.5248G>C (p.Glu1750Gln)
n.4954G>C
n.5704G>C
n.2476G>C
c.5557G>C (p.Glu1853Gln)
c.4750G>C (p.Glu1584Gln)
c.1051G>C (p.Glu351Gln)
c.5137G>C (p.Glu1713Gln)
c.4501G>C (p.Glu1501Gln)
c.1291G>C (p.Glu431Gln)
5g.177273719G>TCA362308678NSD1c.4684G>T (p.Glu1562Ter)
c.199G>T (p.Glu67Ter)
n.5140G>T
n.306G>T
c.5248G>T (p.Glu1750Ter)
n.4954G>T
n.5704G>T
n.2476G>T
c.5557G>T (p.Glu1853Ter)
c.4750G>T (p.Glu1584Ter)
c.1051G>T (p.Glu351Ter)
c.5137G>T (p.Glu1713Ter)
c.4501G>T (p.Glu1501Ter)
c.1291G>T (p.Glu431Ter)
5g.177273720A>CCA362308681NSD1c.4685A>C (p.Glu1562Ala)
c.200A>C (p.Glu67Ala)
n.5141A>C
n.307A>C
c.5249A>C (p.Glu1750Ala)
n.4955A>C
n.5705A>C
n.2477A>C
c.5558A>C (p.Glu1853Ala)
c.4751A>C (p.Glu1584Ala)
c.1052A>C (p.Glu351Ala)
c.5138A>C (p.Glu1713Ala)
c.4502A>C (p.Glu1501Ala)
c.1292A>C (p.Glu431Ala)
5g.177273720A>GCA362308683NSD1c.4685A>G (p.Glu1562Gly)
c.200A>G (p.Glu67Gly)
n.5141A>G
n.307A>G
c.5249A>G (p.Glu1750Gly)
n.4955A>G
n.5705A>G
n.2477A>G
c.5558A>G (p.Glu1853Gly)
c.4751A>G (p.Glu1584Gly)
c.1052A>G (p.Glu351Gly)
c.5138A>G (p.Glu1713Gly)
c.4502A>G (p.Glu1501Gly)
c.1292A>G (p.Glu431Gly)
 gnomAD v4
5g.177273720A>TCA362308684NSD1c.4685A>T (p.Glu1562Val)
c.200A>T (p.Glu67Val)
n.5141A>T
n.307A>T
c.5249A>T (p.Glu1750Val)
n.4955A>T
n.5705A>T
n.2477A>T
c.5558A>T (p.Glu1853Val)
c.4751A>T (p.Glu1584Val)
c.1052A>T (p.Glu351Val)
c.5138A>T (p.Glu1713Val)
c.4502A>T (p.Glu1501Val)
c.1292A>T (p.Glu431Val)
5g.177273721G>ACA447735159NSD1c.4686G>A (p.Glu1562=)
c.201G>A (p.Glu67=)
n.5142G>A
n.308G>A
c.5250G>A (p.Glu1750=)
n.4956G>A
n.5706G>A
n.2478G>A
c.5559G>A (p.Glu1853=)
c.4752G>A (p.Glu1584=)
c.1053G>A (p.Glu351=)
c.5139G>A (p.Glu1713=)
c.4503G>A (p.Glu1501=)
c.1293G>A (p.Glu431=)
 COSMIC COSMIC
5g.177273721G>CCA362308687NSD1c.4686G>C (p.Glu1562Asp)
c.201G>C (p.Glu67Asp)
n.5142G>C
n.308G>C
c.5250G>C (p.Glu1750Asp)
n.4956G>C
n.5706G>C
n.2478G>C
c.5559G>C (p.Glu1853Asp)
c.4752G>C (p.Glu1584Asp)
c.1053G>C (p.Glu351Asp)
c.5139G>C (p.Glu1713Asp)
c.4503G>C (p.Glu1501Asp)
c.1293G>C (p.Glu431Asp)
5g.177273721G>TCA362308689NSD1c.4686G>T (p.Glu1562Asp)
c.201G>T (p.Glu67Asp)
n.5142G>T
n.308G>T
c.5250G>T (p.Glu1750Asp)
n.4956G>T
n.5706G>T
n.2478G>T
c.5559G>T (p.Glu1853Asp)
c.4752G>T (p.Glu1584Asp)
c.1053G>T (p.Glu351Asp)
c.5139G>T (p.Glu1713Asp)
c.4503G>T (p.Glu1501Asp)
c.1293G>T (p.Glu431Asp)
 COSMIC COSMIC
5g.177273722C>ACA362308693NSD1c.4687C>A (p.Leu1563Ile)
c.202C>A (p.Leu68Ile)
n.5143C>A
n.309C>A
c.5251C>A (p.Leu1751Ile)
n.4957C>A
n.5707C>A
n.2479C>A
c.5560C>A (p.Leu1854Ile)
c.4753C>A (p.Leu1585Ile)
c.1054C>A (p.Leu352Ile)
c.5140C>A (p.Leu1714Ile)
c.4504C>A (p.Leu1502Ile)
c.1294C>A (p.Leu432Ile)
5g.177273722C>GCA362308691NSD1c.4687C>G (p.Leu1563Val)
c.202C>G (p.Leu68Val)
n.5143C>G
n.309C>G
c.5251C>G (p.Leu1751Val)
n.4957C>G
n.5707C>G
n.2479C>G
c.5560C>G (p.Leu1854Val)
c.4753C>G (p.Leu1585Val)
c.1054C>G (p.Leu352Val)
c.5140C>G (p.Leu1714Val)
c.4504C>G (p.Leu1502Val)
c.1294C>G (p.Leu432Val)
5g.177273722C>TCA447735160NSD1c.4687C>T (p.Leu1563=)
c.202C>T (p.Leu68=)
n.5143C>T
n.309C>T
c.5251C>T (p.Leu1751=)
n.4957C>T
n.5707C>T
n.2479C>T
c.5560C>T (p.Leu1854=)
c.4753C>T (p.Leu1585=)
c.1054C>T (p.Leu352=)
c.5140C>T (p.Leu1714=)
c.4504C>T (p.Leu1502=)
c.1294C>T (p.Leu432=)
 gnomAD v4
5g.177273723T>ACA362308695NSD1c.4688T>A (p.Leu1563Gln)
c.203T>A (p.Leu68Gln)
n.5144T>A
n.310T>A
c.5252T>A (p.Leu1751Gln)
n.4958T>A
n.5708T>A
n.2480T>A
c.5561T>A (p.Leu1854Gln)
c.4754T>A (p.Leu1585Gln)
c.1055T>A (p.Leu352Gln)
c.5141T>A (p.Leu1714Gln)
c.4505T>A (p.Leu1502Gln)
c.1295T>A (p.Leu432Gln)
5g.177273723T>CCA362308697NSD1c.4688T>C (p.Leu1563Pro)
c.203T>C (p.Leu68Pro)
n.5144T>C
n.310T>C
c.5252T>C (p.Leu1751Pro)
n.4958T>C
n.5708T>C
n.2480T>C
c.5561T>C (p.Leu1854Pro)
c.4754T>C (p.Leu1585Pro)
c.1055T>C (p.Leu352Pro)
c.5141T>C (p.Leu1714Pro)
c.4505T>C (p.Leu1502Pro)
c.1295T>C (p.Leu432Pro)
5g.177273723T>GCA362308698NSD1c.4688T>G (p.Leu1563Arg)
c.203T>G (p.Leu68Arg)
n.5144T>G
n.310T>G
c.5252T>G (p.Leu1751Arg)
n.4958T>G
n.5708T>G
n.2480T>G
c.5561T>G (p.Leu1854Arg)
c.4754T>G (p.Leu1585Arg)
c.1055T>G (p.Leu352Arg)
c.5141T>G (p.Leu1714Arg)
c.4505T>G (p.Leu1502Arg)
c.1295T>G (p.Leu432Arg)
5g.177273724A=CA1603543529NSD1c.4689A= (p.Leu1563=)
c.204A= (p.Leu68=)
n.5145A=
n.311A=
c.5253A= (p.Leu1751=)
n.4959A=
n.5709A=
n.2481A=
c.5562A= (p.Leu1854=)
c.4755A= (p.Leu1585=)
c.1056A= (p.Leu352=)
c.5142A= (p.Leu1714=)
c.4506A= (p.Leu1502=)
c.1296A= (p.Leu432=)
5g.177273724A>CCA447735161NSD1c.4689A>C (p.Leu1563=)
c.204A>C (p.Leu68=)
n.5145A>C
n.311A>C
c.5253A>C (p.Leu1751=)
n.4959A>C
n.5709A>C
n.2481A>C
c.5562A>C (p.Leu1854=)
c.4755A>C (p.Leu1585=)
c.1056A>C (p.Leu352=)
c.5142A>C (p.Leu1714=)
c.4506A>C (p.Leu1502=)
c.1296A>C (p.Leu432=)
5g.177273724A>GCA447735162NSD1c.4689A>G (p.Leu1563=)
c.204A>G (p.Leu68=)
n.5145A>G
n.311A>G
c.5253A>G (p.Leu1751=)
n.4959A>G
n.5709A>G
n.2481A>G
c.5562A>G (p.Leu1854=)
c.4755A>G (p.Leu1585=)
c.1056A>G (p.Leu352=)
c.5142A>G (p.Leu1714=)
c.4506A>G (p.Leu1502=)
c.1296A>G (p.Leu432=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.177273724A>TCA447735163NSD1c.4689A>T (p.Leu1563=)
c.204A>T (p.Leu68=)
n.5145A>T
n.311A>T
c.5253A>T (p.Leu1751=)
n.4959A>T
n.5709A>T
n.2481A>T
c.5562A>T (p.Leu1854=)
c.4755A>T (p.Leu1585=)
c.1056A>T (p.Leu352=)
c.5142A>T (p.Leu1714=)
c.4506A>T (p.Leu1502=)
c.1296A>T (p.Leu432=)
5g.177273725A>CCA447735164NSD1c.4690A>C (p.Arg1564=)
c.205A>C (p.Arg69=)
n.5146A>C
n.312A>C
c.5254A>C (p.Arg1752=)
n.4960A>C
n.5710A>C
n.2482A>C
c.5563A>C (p.Arg1855=)
c.4756A>C (p.Arg1586=)
c.1057A>C (p.Arg353=)
c.5143A>C (p.Arg1715=)
c.4507A>C (p.Arg1503=)
c.1297A>C (p.Arg433=)
5g.177273725A>GCA362308702NSD1c.4690A>G (p.Arg1564Gly)
c.205A>G (p.Arg69Gly)
n.5146A>G
n.312A>G
c.5254A>G (p.Arg1752Gly)
n.4960A>G
n.5710A>G
n.2482A>G
c.5563A>G (p.Arg1855Gly)
c.4756A>G (p.Arg1586Gly)
c.1057A>G (p.Arg353Gly)
c.5143A>G (p.Arg1715Gly)
c.4507A>G (p.Arg1503Gly)
c.1297A>G (p.Arg433Gly)
5g.177273725A>TCA362308704NSD1c.4690A>T (p.Arg1564Ter)
c.205A>T (p.Arg69Ter)
n.5146A>T
n.312A>T
c.5254A>T (p.Arg1752Ter)
n.4960A>T
n.5710A>T
n.2482A>T
c.5563A>T (p.Arg1855Ter)
c.4756A>T (p.Arg1586Ter)
c.1057A>T (p.Arg353Ter)
c.5143A>T (p.Arg1715Ter)
c.4507A>T (p.Arg1503Ter)
c.1297A>T (p.Arg433Ter)
5g.177273726G>ACA362308706NSD1c.4691G>A (p.Arg1564Lys)
c.206G>A (p.Arg69Lys)
n.5147G>A
n.313G>A
c.5255G>A (p.Arg1752Lys)
n.4961G>A
n.5711G>A
n.2483G>A
c.5564G>A (p.Arg1855Lys)
c.4757G>A (p.Arg1586Lys)
c.1058G>A (p.Arg353Lys)
c.5144G>A (p.Arg1715Lys)
c.4508G>A (p.Arg1503Lys)
c.1298G>A (p.Arg433Lys)
 dbSNP
5g.177273726G>CCA362308708NSD1c.4691G>C (p.Arg1564Thr)
c.206G>C (p.Arg69Thr)
n.5147G>C
n.313G>C
c.5255G>C (p.Arg1752Thr)
n.4961G>C
n.5711G>C
n.2483G>C
c.5564G>C (p.Arg1855Thr)
c.4757G>C (p.Arg1586Thr)
c.1058G>C (p.Arg353Thr)
c.5144G>C (p.Arg1715Thr)
c.4508G>C (p.Arg1503Thr)
c.1298G>C (p.Arg433Thr)
 dbSNP
5g.177273726G>TCA362308710NSD1c.4691G>T (p.Arg1564Ile)
c.206G>T (p.Arg69Ile)
n.5147G>T
n.313G>T
c.5255G>T (p.Arg1752Ile)
n.4961G>T
n.5711G>T
n.2483G>T
c.5564G>T (p.Arg1855Ile)
c.4757G>T (p.Arg1586Ile)
c.1058G>T (p.Arg353Ile)
c.5144G>T (p.Arg1715Ile)
c.4508G>T (p.Arg1503Ile)
c.1298G>T (p.Arg433Ile)
5g.177273727A>CCA362308712NSD1c.4692A>C (p.Arg1564Ser)
c.207A>C (p.Arg69Ser)
n.5148A>C
n.314A>C
c.5256A>C (p.Arg1752Ser)
n.4962A>C
n.5712A>C
n.2484A>C
c.5565A>C (p.Arg1855Ser)
c.4758A>C (p.Arg1586Ser)
c.1059A>C (p.Arg353Ser)
c.5145A>C (p.Arg1715Ser)
c.4509A>C (p.Arg1503Ser)
c.1299A>C (p.Arg433Ser)
5g.177273727A>GCA447735165NSD1c.4692A>G (p.Arg1564=)
c.207A>G (p.Arg69=)
n.5148A>G
n.314A>G
c.5256A>G (p.Arg1752=)
n.4962A>G
n.5712A>G
n.2484A>G
c.5565A>G (p.Arg1855=)
c.4758A>G (p.Arg1586=)
c.1059A>G (p.Arg353=)
c.5145A>G (p.Arg1715=)
c.4509A>G (p.Arg1503=)
c.1299A>G (p.Arg433=)
5g.177273727A>TCA362308716NSD1c.4692A>T (p.Arg1564Ser)
c.207A>T (p.Arg69Ser)
n.5148A>T
n.314A>T
c.5256A>T (p.Arg1752Ser)
n.4962A>T
n.5712A>T
n.2484A>T
c.5565A>T (p.Arg1855Ser)
c.4758A>T (p.Arg1586Ser)
c.1059A>T (p.Arg353Ser)
c.5145A>T (p.Arg1715Ser)
c.4509A>T (p.Arg1503Ser)
c.1299A>T (p.Arg433Ser)
 ClinVar dbSNP COSMIC COSMIC
5g.177273728C>ACA362308720NSD1c.4693C>A (p.Gln1565Lys)
c.208C>A (p.Gln70Lys)
n.5149C>A
n.315C>A
c.5257C>A (p.Gln1753Lys)
n.4963C>A
n.5713C>A
n.2485C>A
c.5566C>A (p.Gln1856Lys)
c.4759C>A (p.Gln1587Lys)
c.1060C>A (p.Gln354Lys)
c.5146C>A (p.Gln1716Lys)
c.4510C>A (p.Gln1504Lys)
c.1300C>A (p.Gln434Lys)
5g.177273728C=CA1603543533NSD1c.4693C= (p.Gln1565=)
c.208C= (p.Gln70=)
n.5149C=
n.315C=
c.5257C= (p.Gln1753=)
n.4963C=
n.5713C=
n.2485C=
c.5566C= (p.Gln1856=)
c.4759C= (p.Gln1587=)
c.1060C= (p.Gln354=)
c.5146C= (p.Gln1716=)
c.4510C= (p.Gln1504=)
c.1300C= (p.Gln434=)
5g.177273728C>GCA362308723NSD1c.4693C>G (p.Gln1565Glu)
c.208C>G (p.Gln70Glu)
n.5149C>G
n.315C>G
c.5257C>G (p.Gln1753Glu)
n.4963C>G
n.5713C>G
n.2485C>G
c.5566C>G (p.Gln1856Glu)
c.4759C>G (p.Gln1587Glu)
c.1060C>G (p.Gln354Glu)
c.5146C>G (p.Gln1716Glu)
c.4510C>G (p.Gln1504Glu)
c.1300C>G (p.Gln434Glu)
5g.177273728C>TCA294969NSD1c.4693C>T (p.Gln1565Ter)
c.208C>T (p.Gln70Ter)
n.5149C>T
n.315C>T
c.5257C>T (p.Gln1753Ter)
n.4963C>T
n.5713C>T
n.2485C>T
c.5566C>T (p.Gln1856Ter)
c.4759C>T (p.Gln1587Ter)
c.1060C>T (p.Gln354Ter)
c.5146C>T (p.Gln1716Ter)
c.4510C>T (p.Gln1504Ter)
c.1300C>T (p.Gln434Ter)
 ClinVar dbSNP
5g.177273729A>CCA362308730NSD1c.4694A>C (p.Gln1565Pro)
c.209A>C (p.Gln70Pro)
n.5150A>C
n.316A>C
c.5258A>C (p.Gln1753Pro)
n.4964A>C
n.5714A>C
n.2486A>C
c.5567A>C (p.Gln1856Pro)
c.4760A>C (p.Gln1587Pro)
c.1061A>C (p.Gln354Pro)
c.5147A>C (p.Gln1716Pro)
c.4511A>C (p.Gln1504Pro)
c.1301A>C (p.Gln434Pro)
5g.177273729A>GCA362308734NSD1c.4694A>G (p.Gln1565Arg)
c.209A>G (p.Gln70Arg)
n.5150A>G
n.316A>G
c.5258A>G (p.Gln1753Arg)
n.4964A>G
n.5714A>G
n.2486A>G
c.5567A>G (p.Gln1856Arg)
c.4760A>G (p.Gln1587Arg)
c.1061A>G (p.Gln354Arg)
c.5147A>G (p.Gln1716Arg)
c.4511A>G (p.Gln1504Arg)
c.1301A>G (p.Gln434Arg)
5g.177273729A>TCA362308732NSD1c.4694A>T (p.Gln1565Leu)
c.209A>T (p.Gln70Leu)
n.5150A>T
n.316A>T
c.5258A>T (p.Gln1753Leu)
n.4964A>T
n.5714A>T
n.2486A>T
c.5567A>T (p.Gln1856Leu)
c.4760A>T (p.Gln1587Leu)
c.1061A>T (p.Gln354Leu)
c.5147A>T (p.Gln1716Leu)
c.4511A>T (p.Gln1504Leu)
c.1301A>T (p.Gln434Leu)
5g.177273730G>ACA447735167NSD1c.4695G>A (p.Gln1565=)
c.210G>A (p.Gln70=)
n.5151G>A
n.317G>A
c.5259G>A (p.Gln1753=)
n.4965G>A
n.5715G>A
n.2487G>A
c.5568G>A (p.Gln1856=)
c.4761G>A (p.Gln1587=)
c.1062G>A (p.Gln354=)
c.5148G>A (p.Gln1716=)
c.4512G>A (p.Gln1504=)
c.1302G>A (p.Gln434=)
 dbSNP gnomAD v4
5g.177273730G>CCA362308737NSD1c.4695G>C (p.Gln1565His)
c.210G>C (p.Gln70His)
n.5151G>C
n.317G>C
c.5259G>C (p.Gln1753His)
n.4965G>C
n.5715G>C
n.2487G>C
c.5568G>C (p.Gln1856His)
c.4761G>C (p.Gln1587His)
c.1062G>C (p.Gln354His)
c.5148G>C (p.Gln1716His)
c.4512G>C (p.Gln1504His)
c.1302G>C (p.Gln434His)
5g.177273730G=CA1603543535NSD1c.4695G= (p.Gln1565=)
c.210G= (p.Gln70=)
n.5151G=
n.317G=
c.5259G= (p.Gln1753=)
n.4965G=
n.5715G=
n.2487G=
c.5568G= (p.Gln1856=)
c.4761G= (p.Gln1587=)
c.1062G= (p.Gln354=)
c.5148G= (p.Gln1716=)
c.4512G= (p.Gln1504=)
c.1302G= (p.Gln434=)
5g.177273730G>TCA362308738NSD1c.4695G>T (p.Gln1565His)
c.210G>T (p.Gln70His)
n.5151G>T
n.317G>T
c.5259G>T (p.Gln1753His)
n.4965G>T
n.5715G>T
n.2487G>T
c.5568G>T (p.Gln1856His)
c.4761G>T (p.Gln1587His)
c.1062G>T (p.Gln354His)
c.5148G>T (p.Gln1716His)
c.4512G>T (p.Gln1504His)
c.1302G>T (p.Gln434His)
5g.177273731C>ACA362308741NSD1c.4696C>A (p.Leu1566Met)
c.211C>A (p.Leu71Met)
n.5152C>A
n.318C>A
c.5260C>A (p.Leu1754Met)
n.4966C>A
n.5716C>A
n.2488C>A
c.5569C>A (p.Leu1857Met)
c.4762C>A (p.Leu1588Met)
c.1063C>A (p.Leu355Met)
c.5149C>A (p.Leu1717Met)
c.4513C>A (p.Leu1505Met)
c.1303C>A (p.Leu435Met)
5g.177273731C>GCA362308743NSD1c.4696C>G (p.Leu1566Val)
c.211C>G (p.Leu71Val)
n.5152C>G
n.318C>G
c.5260C>G (p.Leu1754Val)
n.4966C>G
n.5716C>G
n.2488C>G
c.5569C>G (p.Leu1857Val)
c.4762C>G (p.Leu1588Val)
c.1063C>G (p.Leu355Val)
c.5149C>G (p.Leu1717Val)
c.4513C>G (p.Leu1505Val)
c.1303C>G (p.Leu435Val)
5g.177273731C>TCA447735169NSD1c.4696C>T (p.Leu1566=)
c.211C>T (p.Leu71=)
n.5152C>T
n.318C>T
c.5260C>T (p.Leu1754=)
n.4966C>T
n.5716C>T
n.2488C>T
c.5569C>T (p.Leu1857=)
c.4762C>T (p.Leu1588=)
c.1063C>T (p.Leu355=)
c.5149C>T (p.Leu1717=)
c.4513C>T (p.Leu1505=)
c.1303C>T (p.Leu435=)
 dbSNP
5g.177273732T>ACA362308748NSD1c.4697T>A (p.Leu1566Gln)
c.212T>A (p.Leu71Gln)
n.5153T>A
n.319T>A
c.5261T>A (p.Leu1754Gln)
n.4967T>A
n.5717T>A
n.2489T>A
c.5570T>A (p.Leu1857Gln)
c.4763T>A (p.Leu1588Gln)
c.1064T>A (p.Leu355Gln)
c.5150T>A (p.Leu1717Gln)
c.4514T>A (p.Leu1505Gln)
c.1304T>A (p.Leu435Gln)
5g.177273732T>CCA362308749NSD1c.4697T>C (p.Leu1566Pro)
c.212T>C (p.Leu71Pro)
n.5153T>C
n.319T>C
c.5261T>C (p.Leu1754Pro)
n.4967T>C
n.5717T>C
n.2489T>C
c.5570T>C (p.Leu1857Pro)
c.4763T>C (p.Leu1588Pro)
c.1064T>C (p.Leu355Pro)
c.5150T>C (p.Leu1717Pro)
c.4514T>C (p.Leu1505Pro)
c.1304T>C (p.Leu435Pro)
5g.177273732T>GCA362308752NSD1c.4697T>G (p.Leu1566Arg)
c.212T>G (p.Leu71Arg)
n.5153T>G
n.319T>G
c.5261T>G (p.Leu1754Arg)
n.4967T>G
n.5717T>G
n.2489T>G
c.5570T>G (p.Leu1857Arg)
c.4763T>G (p.Leu1588Arg)
c.1064T>G (p.Leu355Arg)
c.5150T>G (p.Leu1717Arg)
c.4514T>G (p.Leu1505Arg)
c.1304T>G (p.Leu435Arg)
5g.177273733G>ACA3577851NSD1c.4698G>A (p.Leu1566=)
c.213G>A (p.Leu71=)
n.5154G>A
n.320G>A
c.5262G>A (p.Leu1754=)
n.4968G>A
n.5718G>A
n.2490G>A
c.5571G>A (p.Leu1857=)
c.4764G>A (p.Leu1588=)
c.1065G>A (p.Leu355=)
c.5151G>A (p.Leu1717=)
c.4515G>A (p.Leu1505=)
c.1305G>A (p.Leu435=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.177273733G>CCA447735173NSD1c.4698G>C (p.Leu1566=)
c.213G>C (p.Leu71=)
n.5154G>C
n.320G>C
c.5262G>C (p.Leu1754=)
n.4968G>C
n.5718G>C
n.2490G>C
c.5571G>C (p.Leu1857=)
c.4764G>C (p.Leu1588=)
c.1065G>C (p.Leu355=)
c.5151G>C (p.Leu1717=)
c.4515G>C (p.Leu1505=)
c.1305G>C (p.Leu435=)
5g.177273733G=CA1603543538NSD1c.4698G= (p.Leu1566=)
c.213G= (p.Leu71=)
n.5154G=
n.320G=
c.5262G= (p.Leu1754=)
n.4968G=
n.5718G=
n.2490G=
c.5571G= (p.Leu1857=)
c.4764G= (p.Leu1588=)
c.1065G= (p.Leu355=)
c.5151G= (p.Leu1717=)
c.4515G= (p.Leu1505=)
c.1305G= (p.Leu435=)
5g.177273733G>TCA3577850NSD1c.4698G>T (p.Leu1566=)
c.213G>T (p.Leu71=)
n.5154G>T
n.320G>T
c.5262G>T (p.Leu1754=)
n.4968G>T
n.5718G>T
n.2490G>T
c.5571G>T (p.Leu1857=)
c.4764G>T (p.Leu1588=)
c.1065G>T (p.Leu355=)
c.5151G>T (p.Leu1717=)
c.4515G>T (p.Leu1505=)
c.1305G>T (p.Leu435=)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.177273734C>ACA362308760NSD1c.4699C>A (p.Gln1567Lys)
c.214C>A (p.Gln72Lys)
n.5155C>A
n.321C>A
c.5263C>A (p.Gln1755Lys)
n.4969C>A
n.5719C>A
n.2491C>A
c.5572C>A (p.Gln1858Lys)
c.4765C>A (p.Gln1589Lys)
c.1066C>A (p.Gln356Lys)
c.5152C>A (p.Gln1718Lys)
c.4516C>A (p.Gln1506Lys)
c.1306C>A (p.Gln436Lys)
5g.177273734C>GCA362308762NSD1c.4699C>G (p.Gln1567Glu)
c.214C>G (p.Gln72Glu)
n.5155C>G
n.321C>G
c.5263C>G (p.Gln1755Glu)
n.4969C>G
n.5719C>G
n.2491C>G
c.5572C>G (p.Gln1858Glu)
c.4765C>G (p.Gln1589Glu)
c.1066C>G (p.Gln356Glu)
c.5152C>G (p.Gln1718Glu)
c.4516C>G (p.Gln1506Glu)
c.1306C>G (p.Gln436Glu)
5g.177273734C>TCA362308770NSD1c.4699C>T (p.Gln1567Ter)
c.214C>T (p.Gln72Ter)
n.5155C>T
n.321C>T
c.5263C>T (p.Gln1755Ter)
n.4969C>T
n.5719C>T
n.2491C>T
c.5572C>T (p.Gln1858Ter)
c.4765C>T (p.Gln1589Ter)
c.1066C>T (p.Gln356Ter)
c.5152C>T (p.Gln1718Ter)
c.4516C>T (p.Gln1506Ter)
c.1306C>T (p.Gln436Ter)
5g.177273735A>CCA362308775NSD1c.4700A>C (p.Gln1567Pro)
c.215A>C (p.Gln72Pro)
n.5156A>C
n.322A>C
c.5264A>C (p.Gln1755Pro)
n.4970A>C
n.5720A>C
n.2492A>C
c.5573A>C (p.Gln1858Pro)
c.4766A>C (p.Gln1589Pro)
c.1067A>C (p.Gln356Pro)
c.5153A>C (p.Gln1718Pro)
c.4517A>C (p.Gln1506Pro)
c.1307A>C (p.Gln436Pro)
5g.177273735A>GCA362308778NSD1c.4700A>G (p.Gln1567Arg)
c.215A>G (p.Gln72Arg)
n.5156A>G
n.322A>G
c.5264A>G (p.Gln1755Arg)
n.4970A>G
n.5720A>G
n.2492A>G
c.5573A>G (p.Gln1858Arg)
c.4766A>G (p.Gln1589Arg)
c.1067A>G (p.Gln356Arg)
c.5153A>G (p.Gln1718Arg)
c.4517A>G (p.Gln1506Arg)
c.1307A>G (p.Gln436Arg)
5g.177273735A>TCA362308781NSD1c.4700A>T (p.Gln1567Leu)
c.215A>T (p.Gln72Leu)
n.5156A>T
n.322A>T
c.5264A>T (p.Gln1755Leu)
n.4970A>T
n.5720A>T
n.2492A>T
c.5573A>T (p.Gln1858Leu)
c.4766A>T (p.Gln1589Leu)
c.1067A>T (p.Gln356Leu)
c.5153A>T (p.Gln1718Leu)
c.4517A>T (p.Gln1506Leu)
c.1307A>T (p.Gln436Leu)
5g.177273736G>ACA3577852NSD1c.4701G>A (p.Gln1567=)
c.216G>A (p.Gln72=)
n.5157G>A
n.323G>A
c.5265G>A (p.Gln1755=)
n.4971G>A
n.5721G>A
n.2493G>A
c.5574G>A (p.Gln1858=)
c.4767G>A (p.Gln1589=)
c.1068G>A (p.Gln356=)
c.5154G>A (p.Gln1718=)
c.4518G>A (p.Gln1506=)
c.1308G>A (p.Gln436=)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.177273736G>CCA362308790NSD1c.4701G>C (p.Gln1567His)
c.216G>C (p.Gln72His)
n.5157G>C
n.323G>C
c.5265G>C (p.Gln1755His)
n.4971G>C
n.5721G>C
n.2493G>C
c.5574G>C (p.Gln1858His)
c.4767G>C (p.Gln1589His)
c.1068G>C (p.Gln356His)
c.5154G>C (p.Gln1718His)
c.4518G>C (p.Gln1506His)
c.1308G>C (p.Gln436His)
5g.177273736G=CA1603543540NSD1c.4701G= (p.Gln1567=)
c.216G= (p.Gln72=)
n.5157G=
n.323G=
c.5265G= (p.Gln1755=)
n.4971G=
n.5721G=
n.2493G=
c.5574G= (p.Gln1858=)
c.4767G= (p.Gln1589=)
c.1068G= (p.Gln356=)
c.5154G= (p.Gln1718=)
c.4518G= (p.Gln1506=)
c.1308G= (p.Gln436=)
5g.177273736G>TCA362308787NSD1c.4701G>T (p.Gln1567His)
c.216G>T (p.Gln72His)
n.5157G>T
n.323G>T
c.5265G>T (p.Gln1755His)
n.4971G>T
n.5721G>T
n.2493G>T
c.5574G>T (p.Gln1858His)
c.4767G>T (p.Gln1589His)
c.1068G>T (p.Gln356His)
c.5154G>T (p.Gln1718His)
c.4518G>T (p.Gln1506His)
c.1308G>T (p.Gln436His)
5g.177273737G>ACA362308797NSD1c.4702G>A (p.Glu1568Lys)
c.217G>A (p.Glu73Lys)
n.5158G>A
n.324G>A
c.5266G>A (p.Glu1756Lys)
n.4972G>A
n.5722G>A
n.2494G>A
c.5575G>A (p.Glu1859Lys)
c.4768G>A (p.Glu1590Lys)
c.1069G>A (p.Glu357Lys)
c.5155G>A (p.Glu1719Lys)
c.4519G>A (p.Glu1507Lys)
c.1309G>A (p.Glu437Lys)
 dbSNP
5g.177273737G>CCA362308801NSD1c.4702G>C (p.Glu1568Gln)
c.217G>C (p.Glu73Gln)
n.5158G>C
n.324G>C
c.5266G>C (p.Glu1756Gln)
n.4972G>C
n.5722G>C
n.2494G>C
c.5575G>C (p.Glu1859Gln)
c.4768G>C (p.Glu1590Gln)
c.1069G>C (p.Glu357Gln)
c.5155G>C (p.Glu1719Gln)
c.4519G>C (p.Glu1507Gln)
c.1309G>C (p.Glu437Gln)
5g.177273737G>TCA362308803NSD1c.4702G>T (p.Glu1568Ter)
c.217G>T (p.Glu73Ter)
n.5158G>T
n.324G>T
c.5266G>T (p.Glu1756Ter)
n.4972G>T
n.5722G>T
n.2494G>T
c.5575G>T (p.Glu1859Ter)
c.4768G>T (p.Glu1590Ter)
c.1069G>T (p.Glu357Ter)
c.5155G>T (p.Glu1719Ter)
c.4519G>T (p.Glu1507Ter)
c.1309G>T (p.Glu437Ter)
5g.177273738A>CCA362308807NSD1c.4703A>C (p.Glu1568Ala)
c.218A>C (p.Glu73Ala)
n.5159A>C
n.325A>C
c.5267A>C (p.Glu1756Ala)
n.4973A>C
n.5723A>C
n.2495A>C
c.5576A>C (p.Glu1859Ala)
c.4769A>C (p.Glu1590Ala)
c.1070A>C (p.Glu357Ala)
c.5156A>C (p.Glu1719Ala)
c.4520A>C (p.Glu1507Ala)
c.1310A>C (p.Glu437Ala)
5g.177273738A>GCA362308811NSD1c.4703A>G (p.Glu1568Gly)
c.218A>G (p.Glu73Gly)
n.5159A>G
n.325A>G
c.5267A>G (p.Glu1756Gly)
n.4973A>G
n.5723A>G
n.2495A>G
c.5576A>G (p.Glu1859Gly)
c.4769A>G (p.Glu1590Gly)
c.1070A>G (p.Glu357Gly)
c.5156A>G (p.Glu1719Gly)
c.4520A>G (p.Glu1507Gly)
c.1310A>G (p.Glu437Gly)
5g.177273738A>TCA362308815NSD1c.4703A>T (p.Glu1568Val)
c.218A>T (p.Glu73Val)
n.5159A>T
n.325A>T
c.5267A>T (p.Glu1756Val)
n.4973A>T
n.5723A>T
n.2495A>T
c.5576A>T (p.Glu1859Val)
c.4769A>T (p.Glu1590Val)
c.1070A>T (p.Glu357Val)
c.5156A>T (p.Glu1719Val)
c.4520A>T (p.Glu1507Val)
c.1310A>T (p.Glu437Val)
5g.177273742_177273749delCA2573139464NSD1c.4707_4714del (p.Asp1569GlufsTer2)
c.222_229del (p.Asp74GlufsTer2)
n.5163_5170del
n.329_336del
c.5271_5278del (p.Asp1757GlufsTer2)
n.4977_4984del
n.5727_5734del
n.2499_2506del
c.5580_5587del (p.Asp1860GlufsTer2)
c.4773_4780del (p.Asp1591GlufsTer2)
c.1074_1081del (p.Asp358GlufsTer2)
c.5160_5167del (p.Asp1720GlufsTer2)
c.4524_4531del (p.Asp1508GlufsTer2)
c.1314_1321del (p.Asp438GlufsTer2)
 ClinVar dbSNP
5g.177273739A>CCA362308819NSD1c.4704A>C (p.Glu1568Asp)
c.219A>C (p.Glu73Asp)
n.5160A>C
n.326A>C
c.5268A>C (p.Glu1756Asp)
n.4974A>C
n.5724A>C
n.2496A>C
c.5577A>C (p.Glu1859Asp)
c.4770A>C (p.Glu1590Asp)
c.1071A>C (p.Glu357Asp)
c.5157A>C (p.Glu1719Asp)
c.4521A>C (p.Glu1507Asp)
c.1311A>C (p.Glu437Asp)
5g.177273739A>GCA447735179NSD1c.4704A>G (p.Glu1568=)
c.219A>G (p.Glu73=)
n.5160A>G
n.326A>G
c.5268A>G (p.Glu1756=)
n.4974A>G
n.5724A>G
n.2496A>G
c.5577A>G (p.Glu1859=)
c.4770A>G (p.Glu1590=)
c.1071A>G (p.Glu357=)
c.5157A>G (p.Glu1719=)
c.4521A>G (p.Glu1507=)
c.1311A>G (p.Glu437=)
5g.177273739A>TCA362308822NSD1c.4704A>T (p.Glu1568Asp)
c.219A>T (p.Glu73Asp)
n.5160A>T
n.326A>T
c.5268A>T (p.Glu1756Asp)
n.4974A>T
n.5724A>T
n.2496A>T
c.5577A>T (p.Glu1859Asp)
c.4770A>T (p.Glu1590Asp)
c.1071A>T (p.Glu357Asp)
c.5157A>T (p.Glu1719Asp)
c.4521A>T (p.Glu1507Asp)
c.1311A>T (p.Glu437Asp)
5g.177273740G>ACA362308828NSD1c.4705G>A (p.Asp1569Asn)
c.220G>A (p.Asp74Asn)
n.5161G>A
n.327G>A
c.5269G>A (p.Asp1757Asn)
n.4975G>A
n.5725G>A
n.2497G>A
c.5578G>A (p.Asp1860Asn)
c.4771G>A (p.Asp1591Asn)
c.1072G>A (p.Asp358Asn)
c.5158G>A (p.Asp1720Asn)
c.4522G>A (p.Asp1508Asn)
c.1312G>A (p.Asp438Asn)
5g.177273740G>CCA362308830NSD1c.4705G>C (p.Asp1569His)
c.220G>C (p.Asp74His)
n.5161G>C
n.327G>C
c.5269G>C (p.Asp1757His)
n.4975G>C
n.5725G>C
n.2497G>C
c.5578G>C (p.Asp1860His)
c.4771G>C (p.Asp1591His)
c.1072G>C (p.Asp358His)
c.5158G>C (p.Asp1720His)
c.4522G>C (p.Asp1508His)
c.1312G>C (p.Asp438His)
5g.177273740G>TCA362308835NSD1c.4705G>T (p.Asp1569Tyr)
c.220G>T (p.Asp74Tyr)
n.5161G>T
n.327G>T
c.5269G>T (p.Asp1757Tyr)
n.4975G>T
n.5725G>T
n.2497G>T
c.5578G>T (p.Asp1860Tyr)
c.4771G>T (p.Asp1591Tyr)
c.1072G>T (p.Asp358Tyr)
c.5158G>T (p.Asp1720Tyr)
c.4522G>T (p.Asp1508Tyr)
c.1312G>T (p.Asp438Tyr)
5g.177273741A>CCA362308842NSD1c.4706A>C (p.Asp1569Ala)
c.221A>C (p.Asp74Ala)
n.5162A>C
n.328A>C
c.5270A>C (p.Asp1757Ala)
n.4976A>C
n.5726A>C
n.2498A>C
c.5579A>C (p.Asp1860Ala)
c.4772A>C (p.Asp1591Ala)
c.1073A>C (p.Asp358Ala)
c.5159A>C (p.Asp1720Ala)
c.4523A>C (p.Asp1508Ala)
c.1313A>C (p.Asp438Ala)
5g.177273741A>GCA362308849NSD1c.4706A>G (p.Asp1569Gly)
c.221A>G (p.Asp74Gly)
n.5162A>G
n.328A>G
c.5270A>G (p.Asp1757Gly)
n.4976A>G
n.5726A>G
n.2498A>G
c.5579A>G (p.Asp1860Gly)
c.4772A>G (p.Asp1591Gly)
c.1073A>G (p.Asp358Gly)
c.5159A>G (p.Asp1720Gly)
c.4523A>G (p.Asp1508Gly)
c.1313A>G (p.Asp438Gly)
5g.177273741A>TCA362308845NSD1c.4706A>T (p.Asp1569Val)
c.221A>T (p.Asp74Val)
n.5162A>T
n.328A>T
c.5270A>T (p.Asp1757Val)
n.4976A>T
n.5726A>T
n.2498A>T
c.5579A>T (p.Asp1860Val)
c.4772A>T (p.Asp1591Val)
c.1073A>T (p.Asp358Val)
c.5159A>T (p.Asp1720Val)
c.4523A>T (p.Asp1508Val)
c.1313A>T (p.Asp438Val)
5g.177273742C>ACA362308857NSD1c.4707C>A (p.Asp1569Glu)
c.222C>A (p.Asp74Glu)
n.5163C>A
n.329C>A
c.5271C>A (p.Asp1757Glu)
n.4977C>A
n.5727C>A
n.2499C>A
c.5580C>A (p.Asp1860Glu)
c.4773C>A (p.Asp1591Glu)
c.1074C>A (p.Asp358Glu)
c.5160C>A (p.Asp1720Glu)
c.4524C>A (p.Asp1508Glu)
c.1314C>A (p.Asp438Glu)
5g.177273742C>GCA362308860NSD1c.4707C>G (p.Asp1569Glu)
c.222C>G (p.Asp74Glu)
n.5163C>G
n.329C>G
c.5271C>G (p.Asp1757Glu)
n.4977C>G
n.5727C>G
n.2499C>G
c.5580C>G (p.Asp1860Glu)
c.4773C>G (p.Asp1591Glu)
c.1074C>G (p.Asp358Glu)
c.5160C>G (p.Asp1720Glu)
c.4524C>G (p.Asp1508Glu)
c.1314C>G (p.Asp438Glu)
 gnomAD v4
5g.177273742C>TCA447735182NSD1c.4707C>T (p.Asp1569=)
c.222C>T (p.Asp74=)
n.5163C>T
n.329C>T
c.5271C>T (p.Asp1757=)
n.4977C>T
n.5727C>T
n.2499C>T
c.5580C>T (p.Asp1860=)
c.4773C>T (p.Asp1591=)
c.1074C>T (p.Asp358=)
c.5160C>T (p.Asp1720=)
c.4524C>T (p.Asp1508=)
c.1314C>T (p.Asp438=)
 COSMIC COSMIC
5g.177273743C>ACA447735183NSD1c.4708C>A (p.Arg1570=)
c.223C>A (p.Arg75=)
n.5164C>A
n.330C>A
c.5272C>A (p.Arg1758=)
n.4978C>A
n.5728C>A
n.2500C>A
c.5581C>A (p.Arg1861=)
c.4774C>A (p.Arg1592=)
c.1075C>A (p.Arg359=)
c.5161C>A (p.Arg1721=)
c.4525C>A (p.Arg1509=)
c.1315C>A (p.Arg439=)
 gnomAD v4
5g.177273743C=CA1603543544NSD1c.4708C= (p.Arg1570=)
c.223C= (p.Arg75=)
n.5164C=
n.330C=
c.5272C= (p.Arg1758=)
n.4978C=
n.5728C=
n.2500C=
c.5581C= (p.Arg1861=)
c.4774C= (p.Arg1592=)
c.1075C= (p.Arg359=)
c.5161C= (p.Arg1721=)
c.4525C= (p.Arg1509=)
c.1315C= (p.Arg439=)
5g.177273743C>GCA362308864NSD1c.4708C>G (p.Arg1570Gly)
c.223C>G (p.Arg75Gly)
n.5164C>G
n.330C>G
c.5272C>G (p.Arg1758Gly)
n.4978C>G
n.5728C>G
n.2500C>G
c.5581C>G (p.Arg1861Gly)
c.4774C>G (p.Arg1592Gly)
c.1075C>G (p.Arg359Gly)
c.5161C>G (p.Arg1721Gly)
c.4525C>G (p.Arg1509Gly)
c.1315C>G (p.Arg439Gly)
5g.177273743C>TCA10602934NSD1c.4708C>T (p.Arg1570Ter)
c.223C>T (p.Arg75Ter)
n.5164C>T
n.330C>T
c.5272C>T (p.Arg1758Ter)
n.4978C>T
n.5728C>T
n.2500C>T
c.5581C>T (p.Arg1861Ter)
c.4774C>T (p.Arg1592Ter)
c.1075C>T (p.Arg359Ter)
c.5161C>T (p.Arg1721Ter)
c.4525C>T (p.Arg1509Ter)
c.1315C>T (p.Arg439Ter)
 ClinVar dbSNP COSMIC COSMIC
5g.177273744G>ACA132840817NSD1c.4709G>A (p.Arg1570Gln)
c.224G>A (p.Arg75Gln)
n.5165G>A
n.331G>A
c.5273G>A (p.Arg1758Gln)
n.4979G>A
n.5729G>A
n.2501G>A
c.5582G>A (p.Arg1861Gln)
c.4775G>A (p.Arg1592Gln)
c.1076G>A (p.Arg359Gln)
c.5162G>A (p.Arg1721Gln)
c.4526G>A (p.Arg1509Gln)
c.1316G>A (p.Arg439Gln)
 dbSNP gnomAD v4
5g.177273744G>CCA362308870NSD1c.4709G>C (p.Arg1570Pro)
c.224G>C (p.Arg75Pro)
n.5165G>C
n.331G>C
c.5273G>C (p.Arg1758Pro)
n.4979G>C
n.5729G>C
n.2501G>C
c.5582G>C (p.Arg1861Pro)
c.4775G>C (p.Arg1592Pro)
c.1076G>C (p.Arg359Pro)
c.5162G>C (p.Arg1721Pro)
c.4526G>C (p.Arg1509Pro)
c.1316G>C (p.Arg439Pro)
5g.177273744G=CA1603543548NSD1c.4709G= (p.Arg1570=)
c.224G= (p.Arg75=)
n.5165G=
n.331G=
c.5273G= (p.Arg1758=)
n.4979G=
n.5729G=
n.2501G=
c.5582G= (p.Arg1861=)
c.4775G= (p.Arg1592=)
c.1076G= (p.Arg359=)
c.5162G= (p.Arg1721=)
c.4526G= (p.Arg1509=)
c.1316G= (p.Arg439=)
5g.177273744G>TCA362308871NSD1c.4709G>T (p.Arg1570Leu)
c.224G>T (p.Arg75Leu)
n.5165G>T
n.331G>T
c.5273G>T (p.Arg1758Leu)
n.4979G>T
n.5729G>T
n.2501G>T
c.5582G>T (p.Arg1861Leu)
c.4775G>T (p.Arg1592Leu)
c.1076G>T (p.Arg359Leu)
c.5162G>T (p.Arg1721Leu)
c.4526G>T (p.Arg1509Leu)
c.1316G>T (p.Arg439Leu)
 gnomAD v4
5g.177273745A>CCA447735185NSD1c.4710A>C (p.Arg1570=)
c.225A>C (p.Arg75=)
n.5166A>C
n.332A>C
c.5274A>C (p.Arg1758=)
n.4980A>C
n.5730A>C
n.2502A>C
c.5583A>C (p.Arg1861=)
c.4776A>C (p.Arg1592=)
c.1077A>C (p.Arg359=)
c.5163A>C (p.Arg1721=)
c.4527A>C (p.Arg1509=)
c.1317A>C (p.Arg439=)
5g.177273745A>GCA447735187NSD1c.4710A>G (p.Arg1570=)
c.225A>G (p.Arg75=)
n.5166A>G
n.332A>G
c.5274A>G (p.Arg1758=)
n.4980A>G
n.5730A>G
n.2502A>G
c.5583A>G (p.Arg1861=)
c.4776A>G (p.Arg1592=)
c.1077A>G (p.Arg359=)
c.5163A>G (p.Arg1721=)
c.4527A>G (p.Arg1509=)
c.1317A>G (p.Arg439=)
5g.177273745A>TCA447735188NSD1c.4710A>T (p.Arg1570=)
c.225A>T (p.Arg75=)
n.5166A>T
n.332A>T
c.5274A>T (p.Arg1758=)
n.4980A>T
n.5730A>T
n.2502A>T
c.5583A>T (p.Arg1861=)
c.4776A>T (p.Arg1592=)
c.1077A>T (p.Arg359=)
c.5163A>T (p.Arg1721=)
c.4527A>T (p.Arg1509=)
c.1317A>T (p.Arg439=)
5g.177273746A>CCA362308874NSD1c.4711A>C (p.Lys1571Gln)
c.226A>C (p.Lys76Gln)
n.5167A>C
n.333A>C
c.5275A>C (p.Lys1759Gln)
n.4981A>C
n.5731A>C
n.2503A>C
c.5584A>C (p.Lys1862Gln)
c.4777A>C (p.Lys1593Gln)
c.1078A>C (p.Lys360Gln)
c.5164A>C (p.Lys1722Gln)
c.4528A>C (p.Lys1510Gln)
c.1318A>C (p.Lys440Gln)
5g.177273746A>GCA362308878NSD1c.4711A>G (p.Lys1571Glu)
c.226A>G (p.Lys76Glu)
n.5167A>G
n.333A>G
c.5275A>G (p.Lys1759Glu)
n.4981A>G
n.5731A>G
n.2503A>G
c.5584A>G (p.Lys1862Glu)
c.4777A>G (p.Lys1593Glu)
c.1078A>G (p.Lys360Glu)
c.5164A>G (p.Lys1722Glu)
c.4528A>G (p.Lys1510Glu)
c.1318A>G (p.Lys440Glu)
5g.177273746A>TCA362308882NSD1c.4711A>T (p.Lys1571Ter)
c.226A>T (p.Lys76Ter)
n.5167A>T
n.333A>T
c.5275A>T (p.Lys1759Ter)
n.4981A>T
n.5731A>T
n.2503A>T
c.5584A>T (p.Lys1862Ter)
c.4777A>T (p.Lys1593Ter)
c.1078A>T (p.Lys360Ter)
c.5164A>T (p.Lys1722Ter)
c.4528A>T (p.Lys1510Ter)
c.1318A>T (p.Lys440Ter)
5g.177273747A>CCA362308886NSD1c.4712A>C (p.Lys1571Thr)
c.227A>C (p.Lys76Thr)
n.5168A>C
n.334A>C
c.5276A>C (p.Lys1759Thr)
n.4982A>C
n.5732A>C
n.2504A>C
c.5585A>C (p.Lys1862Thr)
c.4778A>C (p.Lys1593Thr)
c.1079A>C (p.Lys360Thr)
c.5165A>C (p.Lys1722Thr)
c.4529A>C (p.Lys1510Thr)
c.1319A>C (p.Lys440Thr)
5g.177273747A>GCA362308889NSD1c.4712A>G (p.Lys1571Arg)
c.227A>G (p.Lys76Arg)
n.5168A>G
n.334A>G
c.5276A>G (p.Lys1759Arg)
n.4982A>G
n.5732A>G
n.2504A>G
c.5585A>G (p.Lys1862Arg)
c.4778A>G (p.Lys1593Arg)
c.1079A>G (p.Lys360Arg)
c.5165A>G (p.Lys1722Arg)
c.4529A>G (p.Lys1510Arg)
c.1319A>G (p.Lys440Arg)
5g.177273747A>TCA362308895NSD1c.4712A>T (p.Lys1571Met)
c.227A>T (p.Lys76Met)
n.5168A>T
n.334A>T
c.5276A>T (p.Lys1759Met)
n.4982A>T
n.5732A>T
n.2504A>T
c.5585A>T (p.Lys1862Met)
c.4778A>T (p.Lys1593Met)
c.1079A>T (p.Lys360Met)
c.5165A>T (p.Lys1722Met)
c.4529A>T (p.Lys1510Met)
c.1319A>T (p.Lys440Met)
5g.177273748G>ACA447735190NSD1c.4713G>A (p.Lys1571=)
c.228G>A (p.Lys76=)
n.5169G>A
n.335G>A
c.5277G>A (p.Lys1759=)
n.4983G>A
n.5733G>A
n.2505G>A
c.5586G>A (p.Lys1862=)
c.4779G>A (p.Lys1593=)
c.1080G>A (p.Lys360=)
c.5166G>A (p.Lys1722=)
c.4530G>A (p.Lys1510=)
c.1320G>A (p.Lys440=)
 gnomAD v4
5g.177273748G>CCA362308898NSD1c.4713G>C (p.Lys1571Asn)
c.228G>C (p.Lys76Asn)
n.5169G>C
n.335G>C
c.5277G>C (p.Lys1759Asn)
n.4983G>C
n.5733G>C
n.2505G>C
c.5586G>C (p.Lys1862Asn)
c.4779G>C (p.Lys1593Asn)
c.1080G>C (p.Lys360Asn)
c.5166G>C (p.Lys1722Asn)
c.4530G>C (p.Lys1510Asn)
c.1320G>C (p.Lys440Asn)
5g.177273748G>TCA362308901NSD1c.4713G>T (p.Lys1571Asn)
c.228G>T (p.Lys76Asn)
n.5169G>T
n.335G>T
c.5277G>T (p.Lys1759Asn)
n.4983G>T
n.5733G>T
n.2505G>T
c.5586G>T (p.Lys1862Asn)
c.4779G>T (p.Lys1593Asn)
c.1080G>T (p.Lys360Asn)
c.5166G>T (p.Lys1722Asn)
c.4530G>T (p.Lys1510Asn)
c.1320G>T (p.Lys440Asn)
5g.177273749A>CCA362308906NSD1c.4714A>C (p.Asn1572His)
c.229A>C (p.Asn77His)
n.5170A>C
n.336A>C
c.5278A>C (p.Asn1760His)
n.4984A>C
n.5734A>C
n.2506A>C
c.5587A>C (p.Asn1863His)
c.4780A>C (p.Asn1594His)
c.1081A>C (p.Asn361His)
c.5167A>C (p.Asn1723His)
c.4531A>C (p.Asn1511His)
c.1321A>C (p.Asn441His)
5g.177273749A>GCA362308908NSD1c.4714A>G (p.Asn1572Asp)
c.229A>G (p.Asn77Asp)
n.5170A>G
n.336A>G
c.5278A>G (p.Asn1760Asp)
n.4984A>G
n.5734A>G
n.2506A>G
c.5587A>G (p.Asn1863Asp)
c.4780A>G (p.Asn1594Asp)
c.1081A>G (p.Asn361Asp)
c.5167A>G (p.Asn1723Asp)
c.4531A>G (p.Asn1511Asp)
c.1321A>G (p.Asn441Asp)
5g.177273749A>TCA362308911NSD1c.4714A>T (p.Asn1572Tyr)
c.229A>T (p.Asn77Tyr)
n.5170A>T
n.336A>T
c.5278A>T (p.Asn1760Tyr)
n.4984A>T
n.5734A>T
n.2506A>T
c.5587A>T (p.Asn1863Tyr)
c.4780A>T (p.Asn1594Tyr)
c.1081A>T (p.Asn361Tyr)
c.5167A>T (p.Asn1723Tyr)
c.4531A>T (p.Asn1511Tyr)
c.1321A>T (p.Asn441Tyr)
5g.177273750A=CA1603543550NSD1c.4715A= (p.Asn1572=)
c.230A= (p.Asn77=)
n.5171A=
n.337A=
c.5279A= (p.Asn1760=)
n.4985A=
n.5735A=
n.2507A=
c.5588A= (p.Asn1863=)
c.4781A= (p.Asn1594=)
c.1082A= (p.Asn361=)
c.5168A= (p.Asn1723=)
c.4532A= (p.Asn1511=)
c.1322A= (p.Asn441=)
5g.177273750A>CCA362308917NSD1c.4715A>C (p.Asn1572Thr)
c.230A>C (p.Asn77Thr)
n.5171A>C
n.337A>C
c.5279A>C (p.Asn1760Thr)
n.4985A>C
n.5735A>C
n.2507A>C
c.5588A>C (p.Asn1863Thr)
c.4781A>C (p.Asn1594Thr)
c.1082A>C (p.Asn361Thr)
c.5168A>C (p.Asn1723Thr)
c.4532A>C (p.Asn1511Thr)
c.1322A>C (p.Asn441Thr)
5g.177273750A>GCA362308921NSD1c.4715A>G (p.Asn1572Ser)
c.230A>G (p.Asn77Ser)
n.5171A>G
n.337A>G
c.5279A>G (p.Asn1760Ser)
n.4985A>G
n.5735A>G
n.2507A>G
c.5588A>G (p.Asn1863Ser)
c.4781A>G (p.Asn1594Ser)
c.1082A>G (p.Asn361Ser)
c.5168A>G (p.Asn1723Ser)
c.4532A>G (p.Asn1511Ser)
c.1322A>G (p.Asn441Ser)
 dbSNP
5g.177273750A>TCA362308923NSD1c.4715A>T (p.Asn1572Ile)
c.230A>T (p.Asn77Ile)
n.5171A>T
n.337A>T
c.5279A>T (p.Asn1760Ile)
n.4985A>T
n.5735A>T
n.2507A>T
c.5588A>T (p.Asn1863Ile)
c.4781A>T (p.Asn1594Ile)
c.1082A>T (p.Asn361Ile)
c.5168A>T (p.Asn1723Ile)
c.4532A>T (p.Asn1511Ile)
c.1322A>T (p.Asn441Ile)
5g.177273751T>ACA362308928NSD1c.4716T>A (p.Asn1572Lys)
c.231T>A (p.Asn77Lys)
n.5172T>A
n.338T>A
c.5280T>A (p.Asn1760Lys)
n.4986T>A
n.5736T>A
n.2508T>A
c.5589T>A (p.Asn1863Lys)
c.4782T>A (p.Asn1594Lys)
c.1083T>A (p.Asn361Lys)
c.5169T>A (p.Asn1723Lys)
c.4533T>A (p.Asn1511Lys)
c.1323T>A (p.Asn441Lys)
5g.177273751T>CCA447735194NSD1c.4716T>C (p.Asn1572=)
c.231T>C (p.Asn77=)
n.5172T>C
n.338T>C
c.5280T>C (p.Asn1760=)
n.4986T>C
n.5736T>C
n.2508T>C
c.5589T>C (p.Asn1863=)
c.4782T>C (p.Asn1594=)
c.1083T>C (p.Asn361=)
c.5169T>C (p.Asn1723=)
c.4533T>C (p.Asn1511=)
c.1323T>C (p.Asn441=)
5g.177273751T>GCA362308930NSD1c.4716T>G (p.Asn1572Lys)
c.231T>G (p.Asn77Lys)
n.5172T>G
n.338T>G
c.5280T>G (p.Asn1760Lys)
n.4986T>G
n.5736T>G
n.2508T>G
c.5589T>G (p.Asn1863Lys)
c.4782T>G (p.Asn1594Lys)
c.1083T>G (p.Asn361Lys)
c.5169T>G (p.Asn1723Lys)
c.4533T>G (p.Asn1511Lys)
c.1323T>G (p.Asn441Lys)
5g.177273752G>ACA3577853NSD1c.4717G>A (p.Asp1573Asn)
c.232G>A (p.Asp78Asn)
n.5173G>A
n.339G>A
c.5281G>A (p.Asp1761Asn)
n.4987G>A
n.5737G>A
n.2509G>A
c.5590G>A (p.Asp1864Asn)
c.4783G>A (p.Asp1595Asn)
c.1084G>A (p.Asp362Asn)
c.5170G>A (p.Asp1724Asn)
c.4534G>A (p.Asp1512Asn)
c.1324G>A (p.Asp442Asn)
 dbSNP ExAC gnomAD v4
5g.177273752G>CCA362308936NSD1c.4717G>C (p.Asp1573His)
c.232G>C (p.Asp78His)
n.5173G>C
n.339G>C
c.5281G>C (p.Asp1761His)
n.4987G>C
n.5737G>C
n.2509G>C
c.5590G>C (p.Asp1864His)
c.4783G>C (p.Asp1595His)
c.1084G>C (p.Asp362His)
c.5170G>C (p.Asp1724His)
c.4534G>C (p.Asp1512His)
c.1324G>C (p.Asp442His)
5g.177273752G=CA1603543553NSD1c.4717G= (p.Asp1573=)
c.232G= (p.Asp78=)
n.5173G=
n.339G=
c.5281G= (p.Asp1761=)
n.4987G=
n.5737G=
n.2509G=
c.5590G= (p.Asp1864=)
c.4783G= (p.Asp1595=)
c.1084G= (p.Asp362=)
c.5170G= (p.Asp1724=)
c.4534G= (p.Asp1512=)
c.1324G= (p.Asp442=)
5g.177273752G>TCA362308938NSD1c.4717G>T (p.Asp1573Tyr)
c.232G>T (p.Asp78Tyr)
n.5173G>T
n.339G>T
c.5281G>T (p.Asp1761Tyr)
n.4987G>T
n.5737G>T
n.2509G>T
c.5590G>T (p.Asp1864Tyr)
c.4783G>T (p.Asp1595Tyr)
c.1084G>T (p.Asp362Tyr)
c.5170G>T (p.Asp1724Tyr)
c.4534G>T (p.Asp1512Tyr)
c.1324G>T (p.Asp442Tyr)
5g.177273753A>CCA362308952NSD1c.4718A>C (p.Asp1573Ala)
c.233A>C (p.Asp78Ala)
n.5174A>C
n.340A>C
c.5282A>C (p.Asp1761Ala)
n.4988A>C
n.5738A>C
n.2510A>C
c.5591A>C (p.Asp1864Ala)
c.4784A>C (p.Asp1595Ala)
c.1085A>C (p.Asp362Ala)
c.5171A>C (p.Asp1724Ala)
c.4535A>C (p.Asp1512Ala)
c.1325A>C (p.Asp442Ala)
5g.177273753A>GCA362308948NSD1c.4718A>G (p.Asp1573Gly)
c.233A>G (p.Asp78Gly)
n.5174A>G
n.340A>G
c.5282A>G (p.Asp1761Gly)
n.4988A>G
n.5738A>G
n.2510A>G
c.5591A>G (p.Asp1864Gly)
c.4784A>G (p.Asp1595Gly)
c.1085A>G (p.Asp362Gly)
c.5171A>G (p.Asp1724Gly)
c.4535A>G (p.Asp1512Gly)
c.1325A>G (p.Asp442Gly)
5g.177273753A>TCA362308945NSD1c.4718A>T (p.Asp1573Val)
c.233A>T (p.Asp78Val)
n.5174A>T
n.340A>T
c.5282A>T (p.Asp1761Val)
n.4988A>T
n.5738A>T
n.2510A>T
c.5591A>T (p.Asp1864Val)
c.4784A>T (p.Asp1595Val)
c.1085A>T (p.Asp362Val)
c.5171A>T (p.Asp1724Val)
c.4535A>T (p.Asp1512Val)
c.1325A>T (p.Asp442Val)
5g.177273754C>ACA362308957NSD1c.4719C>A (p.Asp1573Glu)
c.234C>A (p.Asp78Glu)
n.5175C>A
n.341C>A
c.5283C>A (p.Asp1761Glu)
n.4989C>A
n.5739C>A
n.2511C>A
c.5592C>A (p.Asp1864Glu)
c.4785C>A (p.Asp1595Glu)
c.1086C>A (p.Asp362Glu)
c.5172C>A (p.Asp1724Glu)
c.4536C>A (p.Asp1512Glu)
c.1326C>A (p.Asp442Glu)
5g.177273754C>GCA362308959NSD1c.4719C>G (p.Asp1573Glu)
c.234C>G (p.Asp78Glu)
n.5175C>G
n.341C>G
c.5283C>G (p.Asp1761Glu)
n.4989C>G
n.5739C>G
n.2511C>G
c.5592C>G (p.Asp1864Glu)
c.4785C>G (p.Asp1595Glu)
c.1086C>G (p.Asp362Glu)
c.5172C>G (p.Asp1724Glu)
c.4536C>G (p.Asp1512Glu)
c.1326C>G (p.Asp442Glu)
5g.177273754C>TCA447735197NSD1c.4719C>T (p.Asp1573=)
c.234C>T (p.Asp78=)
n.5175C>T
n.341C>T
c.5283C>T (p.Asp1761=)
n.4989C>T
n.5739C>T
n.2511C>T
c.5592C>T (p.Asp1864=)
c.4785C>T (p.Asp1595=)
c.1086C>T (p.Asp362=)
c.5172C>T (p.Asp1724=)
c.4536C>T (p.Asp1512=)
c.1326C>T (p.Asp442=)
 gnomAD v4
5g.177273755A>CCA362308964NSD1c.4720A>C (p.Lys1574Gln)
c.235A>C (p.Lys79Gln)
n.5176A>C
n.342A>C
c.5284A>C (p.Lys1762Gln)
n.4990A>C
n.5740A>C
n.2512A>C
c.5593A>C (p.Lys1865Gln)
c.4786A>C (p.Lys1596Gln)
c.1087A>C (p.Lys363Gln)
c.5173A>C (p.Lys1725Gln)
c.4537A>C (p.Lys1513Gln)
c.1327A>C (p.Lys443Gln)
5g.177273755A>GCA362308972NSD1c.4720A>G (p.Lys1574Glu)
c.235A>G (p.Lys79Glu)
n.5176A>G
n.342A>G
c.5284A>G (p.Lys1762Glu)
n.4990A>G
n.5740A>G
n.2512A>G
c.5593A>G (p.Lys1865Glu)
c.4786A>G (p.Lys1596Glu)
c.1087A>G (p.Lys363Glu)
c.5173A>G (p.Lys1725Glu)
c.4537A>G (p.Lys1513Glu)
c.1327A>G (p.Lys443Glu)
5g.177273755A>TCA362308966NSD1c.4720A>T (p.Lys1574Ter)
c.235A>T (p.Lys79Ter)
n.5176A>T
n.342A>T
c.5284A>T (p.Lys1762Ter)
n.4990A>T
n.5740A>T
n.2512A>T
c.5593A>T (p.Lys1865Ter)
c.4786A>T (p.Lys1596Ter)
c.1087A>T (p.Lys363Ter)
c.5173A>T (p.Lys1725Ter)
c.4537A>T (p.Lys1513Ter)
c.1327A>T (p.Lys443Ter)
5g.177273756A=CA1603543556NSD1c.4721A= (p.Lys1574=)
c.236A= (p.Lys79=)
n.5177A=
n.343A=
c.5285A= (p.Lys1762=)
n.4991A=
n.5741A=
n.2513A=
c.5594A= (p.Lys1865=)
c.4787A= (p.Lys1596=)
c.1088A= (p.Lys363=)
c.5174A= (p.Lys1725=)
c.4538A= (p.Lys1513=)
c.1328A= (p.Lys443=)
5g.177273756A>CCA362308977NSD1c.4721A>C (p.Lys1574Thr)
c.236A>C (p.Lys79Thr)
n.5177A>C
n.343A>C
c.5285A>C (p.Lys1762Thr)
n.4991A>C
n.5741A>C
n.2513A>C
c.5594A>C (p.Lys1865Thr)
c.4787A>C (p.Lys1596Thr)
c.1088A>C (p.Lys363Thr)
c.5174A>C (p.Lys1725Thr)
c.4538A>C (p.Lys1513Thr)
c.1328A>C (p.Lys443Thr)
5g.177273756A>GCA362308980NSD1c.4721A>G (p.Lys1574Arg)
c.236A>G (p.Lys79Arg)
n.5177A>G
n.343A>G
c.5285A>G (p.Lys1762Arg)
n.4991A>G
n.5741A>G
n.2513A>G
c.5594A>G (p.Lys1865Arg)
c.4787A>G (p.Lys1596Arg)
c.1088A>G (p.Lys363Arg)
c.5174A>G (p.Lys1725Arg)
c.4538A>G (p.Lys1513Arg)
c.1328A>G (p.Lys443Arg)
 dbSNP gnomAD v4
5g.177273756A>TCA362308981NSD1c.4721A>T (p.Lys1574Met)
c.236A>T (p.Lys79Met)
n.5177A>T
n.343A>T
c.5285A>T (p.Lys1762Met)
n.4991A>T
n.5741A>T
n.2513A>T
c.5594A>T (p.Lys1865Met)
c.4787A>T (p.Lys1596Met)
c.1088A>T (p.Lys363Met)
c.5174A>T (p.Lys1725Met)
c.4538A>T (p.Lys1513Met)
c.1328A>T (p.Lys443Met)
5g.177273757G>ACA447735200NSD1c.4722G>A (p.Lys1574=)
c.237G>A (p.Lys79=)
n.5178G>A
n.344G>A
c.5286G>A (p.Lys1762=)
n.4992G>A
n.5742G>A
n.2514G>A
c.5595G>A (p.Lys1865=)
c.4788G>A (p.Lys1596=)
c.1089G>A (p.Lys363=)
c.5175G>A (p.Lys1725=)
c.4539G>A (p.Lys1513=)
c.1329G>A (p.Lys443=)
 dbSNP
5g.177273757G>CCA362308983NSD1c.4722G>C (p.Lys1574Asn)
c.237G>C (p.Lys79Asn)
n.5178G>C
n.344G>C
c.5286G>C (p.Lys1762Asn)
n.4992G>C
n.5742G>C
n.2514G>C
c.5595G>C (p.Lys1865Asn)
c.4788G>C (p.Lys1596Asn)
c.1089G>C (p.Lys363Asn)
c.5175G>C (p.Lys1725Asn)
c.4539G>C (p.Lys1513Asn)
c.1329G>C (p.Lys443Asn)
 dbSNP
5g.177273757G>TCA362308987NSD1c.4722G>T (p.Lys1574Asn)
c.237G>T (p.Lys79Asn)
n.5178G>T
n.344G>T
c.5286G>T (p.Lys1762Asn)
n.4992G>T
n.5742G>T
n.2514G>T
c.5595G>T (p.Lys1865Asn)
c.4788G>T (p.Lys1596Asn)
c.1089G>T (p.Lys363Asn)
c.5175G>T (p.Lys1725Asn)
c.4539G>T (p.Lys1513Asn)
c.1329G>T (p.Lys443Asn)
5g.177273758A>CCA362308992NSD1c.4723A>C (p.Lys1575Gln)
c.238A>C (p.Lys80Gln)
n.5179A>C
n.345A>C
c.5287A>C (p.Lys1763Gln)
n.4993A>C
n.5743A>C
n.2515A>C
c.5596A>C (p.Lys1866Gln)
c.4789A>C (p.Lys1597Gln)
c.1090A>C (p.Lys364Gln)
c.5176A>C (p.Lys1726Gln)
c.4540A>C (p.Lys1514Gln)
c.1330A>C (p.Lys444Gln)
5g.177273758A>GCA362308995NSD1c.4723A>G (p.Lys1575Glu)
c.238A>G (p.Lys80Glu)
n.5179A>G
n.345A>G
c.5287A>G (p.Lys1763Glu)
n.4993A>G
n.5743A>G
n.2515A>G
c.5596A>G (p.Lys1866Glu)
c.4789A>G (p.Lys1597Glu)
c.1090A>G (p.Lys364Glu)
c.5176A>G (p.Lys1726Glu)
c.4540A>G (p.Lys1514Glu)
c.1330A>G (p.Lys444Glu)
5g.177273758A>TCA362308998NSD1c.4723A>T (p.Lys1575Ter)
c.238A>T (p.Lys80Ter)
n.5179A>T
n.345A>T
c.5287A>T (p.Lys1763Ter)
n.4993A>T
n.5743A>T
n.2515A>T
c.5596A>T (p.Lys1866Ter)
c.4789A>T (p.Lys1597Ter)
c.1090A>T (p.Lys364Ter)
c.5176A>T (p.Lys1726Ter)
c.4540A>T (p.Lys1514Ter)
c.1330A>T (p.Lys444Ter)
5g.177273759A>CCA362309005NSD1c.4724A>C (p.Lys1575Thr)
c.239A>C (p.Lys80Thr)
n.5180A>C
n.346A>C
c.5288A>C (p.Lys1763Thr)
n.4994A>C
n.5744A>C
n.2516A>C
c.5597A>C (p.Lys1866Thr)
c.4790A>C (p.Lys1597Thr)
c.1091A>C (p.Lys364Thr)
c.5177A>C (p.Lys1726Thr)
c.4541A>C (p.Lys1514Thr)
c.1331A>C (p.Lys444Thr)
5g.177273759A>GCA362309008NSD1c.4724A>G (p.Lys1575Arg)
c.239A>G (p.Lys80Arg)
n.5180A>G
n.346A>G
c.5288A>G (p.Lys1763Arg)
n.4994A>G
n.5744A>G
n.2516A>G
c.5597A>G (p.Lys1866Arg)
c.4790A>G (p.Lys1597Arg)
c.1091A>G (p.Lys364Arg)
c.5177A>G (p.Lys1726Arg)
c.4541A>G (p.Lys1514Arg)
c.1331A>G (p.Lys444Arg)
5g.177273759A>TCA362309011NSD1c.4724A>T (p.Lys1575Met)
c.239A>T (p.Lys80Met)
n.5180A>T
n.346A>T
c.5288A>T (p.Lys1763Met)
n.4994A>T
n.5744A>T
n.2516A>T
c.5597A>T (p.Lys1866Met)
c.4790A>T (p.Lys1597Met)
c.1091A>T (p.Lys364Met)
c.5177A>T (p.Lys1726Met)
c.4541A>T (p.Lys1514Met)
c.1331A>T (p.Lys444Met)
5g.177273760G>ACA447735205NSD1c.4725G>A (p.Lys1575=)
c.240G>A (p.Lys80=)
n.5181G>A
n.347G>A
c.5289G>A (p.Lys1763=)
n.4995G>A
n.5745G>A
n.2517G>A
c.5598G>A (p.Lys1866=)
c.4791G>A (p.Lys1597=)
c.1092G>A (p.Lys364=)
c.5178G>A (p.Lys1726=)
c.4542G>A (p.Lys1514=)
c.1332G>A (p.Lys444=)
5g.177273760G>CCA362309015NSD1c.4725G>C (p.Lys1575Asn)
c.240G>C (p.Lys80Asn)
n.5181G>C
n.347G>C
c.5289G>C (p.Lys1763Asn)
n.4995G>C
n.5745G>C
n.2517G>C
c.5598G>C (p.Lys1866Asn)
c.4791G>C (p.Lys1597Asn)
c.1092G>C (p.Lys364Asn)
c.5178G>C (p.Lys1726Asn)
c.4542G>C (p.Lys1514Asn)
c.1332G>C (p.Lys444Asn)
5g.177273760G>TCA362309019NSD1c.4725G>T (p.Lys1575Asn)
c.240G>T (p.Lys80Asn)
n.5181G>T
n.347G>T
c.5289G>T (p.Lys1763Asn)
n.4995G>T
n.5745G>T
n.2517G>T
c.5598G>T (p.Lys1866Asn)
c.4791G>T (p.Lys1597Asn)
c.1092G>T (p.Lys364Asn)
c.5178G>T (p.Lys1726Asn)
c.4542G>T (p.Lys1514Asn)
c.1332G>T (p.Lys444Asn)
5g.177273761C>ACA362309024NSD1c.4726C>A (p.Pro1576Thr)
c.241C>A (p.Pro81Thr)
n.5182C>A
n.348C>A
c.5290C>A (p.Pro1764Thr)
n.4996C>A
n.5746C>A
n.2518C>A
c.5599C>A (p.Pro1867Thr)
c.4792C>A (p.Pro1598Thr)
c.1093C>A (p.Pro365Thr)
c.5179C>A (p.Pro1727Thr)
c.4543C>A (p.Pro1515Thr)
c.1333C>A (p.Pro445Thr)
5g.177273761C>GCA362309033NSD1c.4726C>G (p.Pro1576Ala)
c.241C>G (p.Pro81Ala)
n.5182C>G
n.348C>G
c.5290C>G (p.Pro1764Ala)
n.4996C>G
n.5746C>G
n.2518C>G
c.5599C>G (p.Pro1867Ala)
c.4792C>G (p.Pro1598Ala)
c.1093C>G (p.Pro365Ala)
c.5179C>G (p.Pro1727Ala)
c.4543C>G (p.Pro1515Ala)
c.1333C>G (p.Pro445Ala)
5g.177273761C>TCA362309027NSD1c.4726C>T (p.Pro1576Ser)
c.241C>T (p.Pro81Ser)
n.5182C>T
n.348C>T
c.5290C>T (p.Pro1764Ser)
n.4996C>T
n.5746C>T
n.2518C>T
c.5599C>T (p.Pro1867Ser)
c.4792C>T (p.Pro1598Ser)
c.1093C>T (p.Pro365Ser)
c.5179C>T (p.Pro1727Ser)
c.4543C>T (p.Pro1515Ser)
c.1333C>T (p.Pro445Ser)
5g.177273762C>ACA362309038NSD1c.4727C>A (p.Pro1576Gln)
c.242C>A (p.Pro81Gln)
n.5183C>A
n.349C>A
c.5291C>A (p.Pro1764Gln)
n.4997C>A
n.5747C>A
n.2519C>A
c.5600C>A (p.Pro1867Gln)
c.4793C>A (p.Pro1598Gln)
c.1094C>A (p.Pro365Gln)
c.5180C>A (p.Pro1727Gln)
c.4544C>A (p.Pro1515Gln)
c.1334C>A (p.Pro445Gln)
5g.177273762C>GCA362309042NSD1c.4727C>G (p.Pro1576Arg)
c.242C>G (p.Pro81Arg)
n.5183C>G
n.349C>G
c.5291C>G (p.Pro1764Arg)
n.4997C>G
n.5747C>G
n.2519C>G
c.5600C>G (p.Pro1867Arg)
c.4793C>G (p.Pro1598Arg)
c.1094C>G (p.Pro365Arg)
c.5180C>G (p.Pro1727Arg)
c.4544C>G (p.Pro1515Arg)
c.1334C>G (p.Pro445Arg)
5g.177273762C>TCA362309044NSD1c.4727C>T (p.Pro1576Leu)
c.242C>T (p.Pro81Leu)
n.5183C>T
n.349C>T
c.5291C>T (p.Pro1764Leu)
n.4997C>T
n.5747C>T
n.2519C>T
c.5600C>T (p.Pro1867Leu)
c.4793C>T (p.Pro1598Leu)
c.1094C>T (p.Pro365Leu)
c.5180C>T (p.Pro1727Leu)
c.4544C>T (p.Pro1515Leu)
c.1334C>T (p.Pro445Leu)
5g.177273763A=CA1603543561NSD1c.4728A= (p.Pro1576=)
c.243A= (p.Pro81=)
n.5184A=
n.350A=
c.5292A= (p.Pro1764=)
n.4998A=
n.5748A=
n.2520A=
c.5601A= (p.Pro1867=)
c.4794A= (p.Pro1598=)
c.1095A= (p.Pro365=)
c.5181A= (p.Pro1727=)
c.4545A= (p.Pro1515=)
c.1335A= (p.Pro445=)
5g.177273763A>CCA447735207NSD1c.4728A>C (p.Pro1576=)
c.243A>C (p.Pro81=)
n.5184A>C
n.350A>C
c.5292A>C (p.Pro1764=)
n.4998A>C
n.5748A>C
n.2520A>C
c.5601A>C (p.Pro1867=)
c.4794A>C (p.Pro1598=)
c.1095A>C (p.Pro365=)
c.5181A>C (p.Pro1727=)
c.4545A>C (p.Pro1515=)
c.1335A>C (p.Pro445=)
5g.177273763A>GCA3577854NSD1c.4728A>G (p.Pro1576=)
c.243A>G (p.Pro81=)
n.5184A>G
n.350A>G
c.5292A>G (p.Pro1764=)
n.4998A>G
n.5748A>G
n.2520A>G
c.5601A>G (p.Pro1867=)
c.4794A>G (p.Pro1598=)
c.1095A>G (p.Pro365=)
c.5181A>G (p.Pro1727=)
c.4545A>G (p.Pro1515=)
c.1335A>G (p.Pro445=)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.177273763A>TCA447735209NSD1c.4728A>T (p.Pro1576=)
c.243A>T (p.Pro81=)
n.5184A>T
n.350A>T
c.5292A>T (p.Pro1764=)
n.4998A>T
n.5748A>T
n.2520A>T
c.5601A>T (p.Pro1867=)
c.4794A>T (p.Pro1598=)
c.1095A>T (p.Pro365=)
c.5181A>T (p.Pro1727=)
c.4545A>T (p.Pro1515=)
c.1335A>T (p.Pro445=)
5g.177273764C>ACA362309054NSD1c.4729C>A (p.Pro1577Thr)
c.244C>A (p.Pro82Thr)
n.5185C>A
n.351C>A
c.5293C>A (p.Pro1765Thr)
n.4999C>A
n.5749C>A
n.2521C>A
c.5602C>A (p.Pro1868Thr)
c.4795C>A (p.Pro1599Thr)
c.1096C>A (p.Pro366Thr)
c.5182C>A (p.Pro1728Thr)
c.4546C>A (p.Pro1516Thr)
c.1336C>A (p.Pro446Thr)
5g.177273764C>GCA362309058NSD1c.4729C>G (p.Pro1577Ala)
c.244C>G (p.Pro82Ala)
n.5185C>G
n.351C>G
c.5293C>G (p.Pro1765Ala)
n.4999C>G
n.5749C>G
n.2521C>G
c.5602C>G (p.Pro1868Ala)
c.4795C>G (p.Pro1599Ala)
c.1096C>G (p.Pro366Ala)
c.5182C>G (p.Pro1728Ala)
c.4546C>G (p.Pro1516Ala)
c.1336C>G (p.Pro446Ala)
5g.177273764C>TCA362309060NSD1c.4729C>T (p.Pro1577Ser)
c.244C>T (p.Pro82Ser)
n.5185C>T
n.351C>T
c.5293C>T (p.Pro1765Ser)
n.4999C>T
n.5749C>T
n.2521C>T
c.5602C>T (p.Pro1868Ser)
c.4795C>T (p.Pro1599Ser)
c.1096C>T (p.Pro366Ser)
c.5182C>T (p.Pro1728Ser)
c.4546C>T (p.Pro1516Ser)
c.1336C>T (p.Pro446Ser)
 gnomAD v4
5g.177273765C>ACA362309063NSD1c.4730C>A (p.Pro1577Gln)
c.245C>A (p.Pro82Gln)
n.5186C>A
n.352C>A
c.5294C>A (p.Pro1765Gln)
n.5000C>A
n.5750C>A
n.2522C>A
c.5603C>A (p.Pro1868Gln)
c.4796C>A (p.Pro1599Gln)
c.1097C>A (p.Pro366Gln)
c.5183C>A (p.Pro1728Gln)
c.4547C>A (p.Pro1516Gln)
c.1337C>A (p.Pro446Gln)
 dbSNP gnomAD v3 gnomAD v4
5g.177273765C=CA1603543566NSD1c.4730C= (p.Pro1577=)
c.245C= (p.Pro82=)
n.5186C=
n.352C=
c.5294C= (p.Pro1765=)
n.5000C=
n.5750C=
n.2522C=
c.5603C= (p.Pro1868=)
c.4796C= (p.Pro1599=)
c.1097C= (p.Pro366=)
c.5183C= (p.Pro1728=)
c.4547C= (p.Pro1516=)
c.1337C= (p.Pro446=)
5g.177273765C>GCA362309067NSD1c.4730C>G (p.Pro1577Arg)
c.245C>G (p.Pro82Arg)
n.5186C>G
n.352C>G
c.5294C>G (p.Pro1765Arg)
n.5000C>G
n.5750C>G
n.2522C>G
c.5603C>G (p.Pro1868Arg)
c.4796C>G (p.Pro1599Arg)
c.1097C>G (p.Pro366Arg)
c.5183C>G (p.Pro1728Arg)
c.4547C>G (p.Pro1516Arg)
c.1337C>G (p.Pro446Arg)
 gnomAD v4
5g.177273765C>TCA3577855NSD1c.4730C>T (p.Pro1577Leu)
c.245C>T (p.Pro82Leu)
n.5186C>T
n.352C>T
c.5294C>T (p.Pro1765Leu)
n.5000C>T
n.5750C>T
n.2522C>T
c.5603C>T (p.Pro1868Leu)
c.4796C>T (p.Pro1599Leu)
c.1097C>T (p.Pro366Leu)
c.5183C>T (p.Pro1728Leu)
c.4547C>T (p.Pro1516Leu)
c.1337C>T (p.Pro446Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.177273766A>CCA447735214NSD1c.4731A>C (p.Pro1577=)
c.246A>C (p.Pro82=)
n.5187A>C
n.353A>C
c.5295A>C (p.Pro1765=)
n.5001A>C
n.5751A>C
n.2523A>C
c.5604A>C (p.Pro1868=)
c.4797A>C (p.Pro1599=)
c.1098A>C (p.Pro366=)
c.5184A>C (p.Pro1728=)
c.4548A>C (p.Pro1516=)
c.1338A>C (p.Pro446=)
5g.177273766A>GCA447735212NSD1c.4731A>G (p.Pro1577=)
c.246A>G (p.Pro82=)
n.5187A>G
n.353A>G
c.5295A>G (p.Pro1765=)
n.5001A>G
n.5751A>G
n.2523A>G
c.5604A>G (p.Pro1868=)
c.4797A>G (p.Pro1599=)
c.1098A>G (p.Pro366=)
c.5184A>G (p.Pro1728=)
c.4548A>G (p.Pro1516=)
c.1338A>G (p.Pro446=)
 COSMIC COSMIC
5g.177273766A>TCA447735213NSD1c.4731A>T (p.Pro1577=)
c.246A>T (p.Pro82=)
n.5187A>T
n.353A>T
c.5295A>T (p.Pro1765=)
n.5001A>T
n.5751A>T
n.2523A>T
c.5604A>T (p.Pro1868=)
c.4797A>T (p.Pro1599=)
c.1098A>T (p.Pro366=)
c.5184A>T (p.Pro1728=)
c.4548A>T (p.Pro1516=)
c.1338A>T (p.Pro446=)
5g.177273767C>ACA362309073NSD1c.4732C>A (p.Pro1578Thr)
c.247C>A (p.Pro83Thr)
n.5188C>A
n.354C>A
c.5296C>A (p.Pro1766Thr)
n.5002C>A
n.5752C>A
n.2524C>A
c.5605C>A (p.Pro1869Thr)
c.4798C>A (p.Pro1600Thr)
c.1099C>A (p.Pro367Thr)
c.5185C>A (p.Pro1729Thr)
c.4549C>A (p.Pro1517Thr)
c.1339C>A (p.Pro447Thr)
5g.177273767C>GCA362309070NSD1c.4732C>G (p.Pro1578Ala)
c.247C>G (p.Pro83Ala)
n.5188C>G
n.354C>G
c.5296C>G (p.Pro1766Ala)
n.5002C>G
n.5752C>G
n.2524C>G
c.5605C>G (p.Pro1869Ala)
c.4798C>G (p.Pro1600Ala)
c.1099C>G (p.Pro367Ala)
c.5185C>G (p.Pro1729Ala)
c.4549C>G (p.Pro1517Ala)
c.1339C>G (p.Pro447Ala)
 gnomAD v4
5g.177273767C>TCA362309068NSD1c.4732C>T (p.Pro1578Ser)
c.247C>T (p.Pro83Ser)
n.5188C>T
n.354C>T
c.5296C>T (p.Pro1766Ser)
n.5002C>T
n.5752C>T
n.2524C>T
c.5605C>T (p.Pro1869Ser)
c.4798C>T (p.Pro1600Ser)
c.1099C>T (p.Pro367Ser)
c.5185C>T (p.Pro1729Ser)
c.4549C>T (p.Pro1517Ser)
c.1339C>T (p.Pro447Ser)
 gnomAD v4
5g.177273768C>ACA362309076NSD1c.4733C>A (p.Pro1578His)
c.248C>A (p.Pro83His)
n.5189C>A
n.355C>A
c.5297C>A (p.Pro1766His)
n.5003C>A
n.5753C>A
n.2525C>A
c.5606C>A (p.Pro1869His)
c.4799C>A (p.Pro1600His)
c.1100C>A (p.Pro367His)
c.5186C>A (p.Pro1729His)
c.4550C>A (p.Pro1517His)
c.1340C>A (p.Pro447His)
5g.177273768C>GCA362309077NSD1c.4733C>G (p.Pro1578Arg)
c.248C>G (p.Pro83Arg)
n.5189C>G
n.355C>G
c.5297C>G (p.Pro1766Arg)
n.5003C>G
n.5753C>G
n.2525C>G
c.5606C>G (p.Pro1869Arg)
c.4799C>G (p.Pro1600Arg)
c.1100C>G (p.Pro367Arg)
c.5186C>G (p.Pro1729Arg)
c.4550C>G (p.Pro1517Arg)
c.1340C>G (p.Pro447Arg)
5g.177273768C>TCA362309079NSD1c.4733C>T (p.Pro1578Leu)
c.248C>T (p.Pro83Leu)
n.5189C>T
n.355C>T
c.5297C>T (p.Pro1766Leu)
n.5003C>T
n.5753C>T
n.2525C>T
c.5606C>T (p.Pro1869Leu)
c.4799C>T (p.Pro1600Leu)
c.1100C>T (p.Pro367Leu)
c.5186C>T (p.Pro1729Leu)
c.4550C>T (p.Pro1517Leu)
c.1340C>T (p.Pro447Leu)
5g.177273769T>ACA447735221NSD1c.4734T>A (p.Pro1578=)
c.249T>A (p.Pro83=)
n.5190T>A
n.356T>A
c.5298T>A (p.Pro1766=)
n.5004T>A
n.5754T>A
n.2526T>A
c.5607T>A (p.Pro1869=)
c.4800T>A (p.Pro1600=)
c.1101T>A (p.Pro367=)
c.5187T>A (p.Pro1729=)
c.4551T>A (p.Pro1517=)
c.1341T>A (p.Pro447=)
5g.177273769T>CCA447735222NSD1c.4734T>C (p.Pro1578=)
c.249T>C (p.Pro83=)
n.5190T>C
n.356T>C
c.5298T>C (p.Pro1766=)
n.5004T>C
n.5754T>C
n.2526T>C
c.5607T>C (p.Pro1869=)
c.4800T>C (p.Pro1600=)
c.1101T>C (p.Pro367=)
c.5187T>C (p.Pro1729=)
c.4551T>C (p.Pro1517=)
c.1341T>C (p.Pro447=)
5g.177273769T>GCA447735224NSD1c.4734T>G (p.Pro1578=)
c.249T>G (p.Pro83=)
n.5190T>G
n.356T>G
c.5298T>G (p.Pro1766=)
n.5004T>G
n.5754T>G
n.2526T>G
c.5607T>G (p.Pro1869=)
c.4800T>G (p.Pro1600=)
c.1101T>G (p.Pro367=)
c.5187T>G (p.Pro1729=)
c.4551T>G (p.Pro1517=)
c.1341T>G (p.Pro447=)
5g.177273770T>ACA362309083NSD1c.4735T>A (p.Tyr1579Asn)
c.250T>A (p.Tyr84Asn)
n.5191T>A
n.357T>A
c.5299T>A (p.Tyr1767Asn)
n.5005T>A
n.5755T>A
n.2527T>A
c.5608T>A (p.Tyr1870Asn)
c.4801T>A (p.Tyr1601Asn)
c.1102T>A (p.Tyr368Asn)
c.5188T>A (p.Tyr1730Asn)
c.4552T>A (p.Tyr1518Asn)
c.1342T>A (p.Tyr448Asn)
5g.177273770T>CCA362309085NSD1c.4735T>C (p.Tyr1579His)
c.250T>C (p.Tyr84His)
n.5191T>C
n.357T>C
c.5299T>C (p.Tyr1767His)
n.5005T>C
n.5755T>C
n.2527T>C
c.5608T>C (p.Tyr1870His)
c.4801T>C (p.Tyr1601His)
c.1102T>C (p.Tyr368His)
c.5188T>C (p.Tyr1730His)
c.4552T>C (p.Tyr1518His)
c.1342T>C (p.Tyr448His)
5g.177273770T>GCA362309091NSD1c.4735T>G (p.Tyr1579Asp)
c.250T>G (p.Tyr84Asp)
n.5191T>G
n.357T>G
c.5299T>G (p.Tyr1767Asp)
n.5005T>G
n.5755T>G
n.2527T>G
c.5608T>G (p.Tyr1870Asp)
c.4801T>G (p.Tyr1601Asp)
c.1102T>G (p.Tyr368Asp)
c.5188T>G (p.Tyr1730Asp)
c.4552T>G (p.Tyr1518Asp)
c.1342T>G (p.Tyr448Asp)
5g.177273771A=CA1603543569NSD1c.4736A= (p.Tyr1579=)
c.251A= (p.Tyr84=)
n.5192A=
n.358A=
c.5300A= (p.Tyr1767=)
n.5006A=
n.5756A=
n.2528A=
c.5609A= (p.Tyr1870=)
c.4802A= (p.Tyr1601=)
c.1103A= (p.Tyr368=)
c.5189A= (p.Tyr1730=)
c.4553A= (p.Tyr1518=)
c.1343A= (p.Tyr448=)
5g.177273771A>CCA362309102NSD1c.4736A>C (p.Tyr1579Ser)
c.251A>C (p.Tyr84Ser)
n.5192A>C
n.358A>C
c.5300A>C (p.Tyr1767Ser)
n.5006A>C
n.5756A>C
n.2528A>C
c.5609A>C (p.Tyr1870Ser)
c.4802A>C (p.Tyr1601Ser)
c.1103A>C (p.Tyr368Ser)
c.5189A>C (p.Tyr1730Ser)
c.4553A>C (p.Tyr1518Ser)
c.1343A>C (p.Tyr448Ser)
5g.177273771A>GCA16604875NSD1c.4736A>G (p.Tyr1579Cys)
c.251A>G (p.Tyr84Cys)
n.5192A>G
n.358A>G
c.5300A>G (p.Tyr1767Cys)
n.5006A>G
n.5756A>G
n.2528A>G
c.5609A>G (p.Tyr1870Cys)
c.4802A>G (p.Tyr1601Cys)
c.1103A>G (p.Tyr368Cys)
c.5189A>G (p.Tyr1730Cys)
c.4553A>G (p.Tyr1518Cys)
c.1343A>G (p.Tyr448Cys)
 ClinVar dbSNP
5g.177273771A>TCA362309099NSD1c.4736A>T (p.Tyr1579Phe)
c.251A>T (p.Tyr84Phe)
n.5192A>T
n.358A>T
c.5300A>T (p.Tyr1767Phe)
n.5006A>T
n.5756A>T
n.2528A>T
c.5609A>T (p.Tyr1870Phe)
c.4802A>T (p.Tyr1601Phe)
c.1103A>T (p.Tyr368Phe)
c.5189A>T (p.Tyr1730Phe)
c.4553A>T (p.Tyr1518Phe)
c.1343A>T (p.Tyr448Phe)
 dbSNP
5g.177273772T>ACA362309109NSD1c.4737T>A (p.Tyr1579Ter)
c.252T>A (p.Tyr84Ter)
n.5193T>A
n.359T>A
c.5301T>A (p.Tyr1767Ter)
n.5007T>A
n.5757T>A
n.2529T>A
c.5610T>A (p.Tyr1870Ter)
c.4803T>A (p.Tyr1601Ter)
c.1104T>A (p.Tyr368Ter)
c.5190T>A (p.Tyr1730Ter)
c.4554T>A (p.Tyr1518Ter)
c.1344T>A (p.Tyr448Ter)
5g.177273772T>CCA447735231NSD1c.4737T>C (p.Tyr1579=)
c.252T>C (p.Tyr84=)
n.5193T>C
n.359T>C
c.5301T>C (p.Tyr1767=)
n.5007T>C
n.5757T>C
n.2529T>C
c.5610T>C (p.Tyr1870=)
c.4803T>C (p.Tyr1601=)
c.1104T>C (p.Tyr368=)
c.5190T>C (p.Tyr1730=)
c.4554T>C (p.Tyr1518=)
c.1344T>C (p.Tyr448=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.177273772T>GCA362309112NSD1c.4737T>G (p.Tyr1579Ter)
c.252T>G (p.Tyr84Ter)
n.5193T>G
n.359T>G
c.5301T>G (p.Tyr1767Ter)
n.5007T>G
n.5757T>G
n.2529T>G
c.5610T>G (p.Tyr1870Ter)
c.4803T>G (p.Tyr1601Ter)
c.1104T>G (p.Tyr368Ter)
c.5190T>G (p.Tyr1730Ter)
c.4554T>G (p.Tyr1518Ter)
c.1344T>G (p.Tyr448Ter)
5g.177273772T=CA1603543574NSD1c.4737T= (p.Tyr1579=)
c.252T= (p.Tyr84=)
n.5193T=
n.359T=
c.5301T= (p.Tyr1767=)
n.5007T=
n.5757T=
n.2529T=
c.5610T= (p.Tyr1870=)
c.4803T= (p.Tyr1601=)
c.1104T= (p.Tyr368=)
c.5190T= (p.Tyr1730=)
c.4554T= (p.Tyr1518=)
c.1344T= (p.Tyr448=)
5g.177273773A>CCA362309117NSD1c.4738A>C (p.Lys1580Gln)
c.253A>C (p.Lys85Gln)
n.5194A>C
n.360A>C
c.5302A>C (p.Lys1768Gln)
n.5008A>C
n.5758A>C
n.2530A>C
c.5611A>C (p.Lys1871Gln)
c.4804A>C (p.Lys1602Gln)
c.1105A>C (p.Lys369Gln)
c.5191A>C (p.Lys1731Gln)
c.4555A>C (p.Lys1519Gln)
c.1345A>C (p.Lys449Gln)
5g.177273773A>GCA362309120NSD1c.4738A>G (p.Lys1580Glu)
c.253A>G (p.Lys85Glu)
n.5194A>G
n.360A>G
c.5302A>G (p.Lys1768Glu)
n.5008A>G
n.5758A>G
n.2530A>G
c.5611A>G (p.Lys1871Glu)
c.4804A>G (p.Lys1602Glu)
c.1105A>G (p.Lys369Glu)
c.5191A>G (p.Lys1731Glu)
c.4555A>G (p.Lys1519Glu)
c.1345A>G (p.Lys449Glu)
5g.177273773A>TCA362309124NSD1c.4738A>T (p.Lys1580Ter)
c.253A>T (p.Lys85Ter)
n.5194A>T
n.360A>T
c.5302A>T (p.Lys1768Ter)
n.5008A>T
n.5758A>T
n.2530A>T
c.5611A>T (p.Lys1871Ter)
c.4804A>T (p.Lys1602Ter)
c.1105A>T (p.Lys369Ter)
c.5191A>T (p.Lys1731Ter)
c.4555A>T (p.Lys1519Ter)
c.1345A>T (p.Lys449Ter)
5g.177273774A>CCA362309129NSD1c.4739A>C (p.Lys1580Thr)
c.254A>C (p.Lys85Thr)
n.5195A>C
n.361A>C
c.5303A>C (p.Lys1768Thr)
n.5009A>C
n.5759A>C
n.2531A>C
c.5612A>C (p.Lys1871Thr)
c.4805A>C (p.Lys1602Thr)
c.1106A>C (p.Lys369Thr)
c.5192A>C (p.Lys1731Thr)
c.4556A>C (p.Lys1519Thr)
c.1346A>C (p.Lys449Thr)
5g.177273774A>GCA362309136NSD1c.4739A>G (p.Lys1580Arg)
c.254A>G (p.Lys85Arg)
n.5195A>G
n.361A>G
c.5303A>G (p.Lys1768Arg)
n.5009A>G
n.5759A>G
n.2531A>G
c.5612A>G (p.Lys1871Arg)
c.4805A>G (p.Lys1602Arg)
c.1106A>G (p.Lys369Arg)
c.5192A>G (p.Lys1731Arg)
c.4556A>G (p.Lys1519Arg)
c.1346A>G (p.Lys449Arg)
 ClinVar
5g.177273774A>TCA362309133NSD1c.4739A>T (p.Lys1580Ile)
c.254A>T (p.Lys85Ile)
n.5195A>T
n.361A>T
c.5303A>T (p.Lys1768Ile)
n.5009A>T
n.5759A>T
n.2531A>T
c.5612A>T (p.Lys1871Ile)
c.4805A>T (p.Lys1602Ile)
c.1106A>T (p.Lys369Ile)
c.5192A>T (p.Lys1731Ile)
c.4556A>T (p.Lys1519Ile)
c.1346A>T (p.Lys449Ile)
5g.177273775A>CCA362309140NSD1c.4740A>C (p.Lys1580Asn)
c.255A>C (p.Lys85Asn)
n.5196A>C
n.362A>C
c.5304A>C (p.Lys1768Asn)
n.5010A>C
n.5760A>C
n.2532A>C
c.5613A>C (p.Lys1871Asn)
c.4806A>C (p.Lys1602Asn)
c.1107A>C (p.Lys369Asn)
c.5193A>C (p.Lys1731Asn)
c.4557A>C (p.Lys1519Asn)
c.1347A>C (p.Lys449Asn)
5g.177273775A>GCA447735241NSD1c.4740A>G (p.Lys1580=)
c.255A>G (p.Lys85=)
n.5196A>G
n.362A>G
c.5304A>G (p.Lys1768=)
n.5010A>G
n.5760A>G
n.2532A>G
c.5613A>G (p.Lys1871=)
c.4806A>G (p.Lys1602=)
c.1107A>G (p.Lys369=)
c.5193A>G (p.Lys1731=)
c.4557A>G (p.Lys1519=)
c.1347A>G (p.Lys449=)
5g.177273775A>TCA362309142NSD1c.4740A>T (p.Lys1580Asn)
c.255A>T (p.Lys85Asn)
n.5196A>T
n.362A>T
c.5304A>T (p.Lys1768Asn)
n.5010A>T
n.5760A>T
n.2532A>T
c.5613A>T (p.Lys1871Asn)
c.4806A>T (p.Lys1602Asn)
c.1107A>T (p.Lys369Asn)
c.5193A>T (p.Lys1731Asn)
c.4557A>T (p.Lys1519Asn)
c.1347A>T (p.Lys449Asn)
5g.177273776C>ACA362309149NSD1c.4741C>A (p.His1581Asn)
c.256C>A (p.His86Asn)
n.5197C>A
n.363C>A
c.5305C>A (p.His1769Asn)
n.5011C>A
n.5761C>A
n.2533C>A
c.5614C>A (p.His1872Asn)
c.4807C>A (p.His1603Asn)
c.1108C>A (p.His370Asn)
c.5194C>A (p.His1732Asn)
c.4558C>A (p.His1520Asn)
c.1348C>A (p.His450Asn)
5g.177273776C>GCA362309152NSD1c.4741C>G (p.His1581Asp)
c.256C>G (p.His86Asp)
n.5197C>G
n.363C>G
c.5305C>G (p.His1769Asp)
n.5011C>G
n.5761C>G
n.2533C>G
c.5614C>G (p.His1872Asp)
c.4807C>G (p.His1603Asp)
c.1108C>G (p.His370Asp)
c.5194C>G (p.His1732Asp)
c.4558C>G (p.His1520Asp)
c.1348C>G (p.His450Asp)
5g.177273776C>TCA362309156NSD1c.4741C>T (p.His1581Tyr)
c.256C>T (p.His86Tyr)
n.5197C>T
n.363C>T
c.5305C>T (p.His1769Tyr)
n.5011C>T
n.5761C>T
n.2533C>T
c.5614C>T (p.His1872Tyr)
c.4807C>T (p.His1603Tyr)
c.1108C>T (p.His370Tyr)
c.5194C>T (p.His1732Tyr)
c.4558C>T (p.His1520Tyr)
c.1348C>T (p.His450Tyr)
5g.177273776_177273778delinsCATCA1603543577NSD1c.4741_4743delinsCAT (p.His1581=)
c.256_258delinsCAT (p.His86=)
n.5197_5199delinsCAT
n.363_365delinsCAT
c.5305_5307delinsCAT (p.His1769=)
n.5011_5013delinsCAT
n.5761_5763delinsCAT
n.2533_2535delinsCAT
c.5614_5616delinsCAT (p.His1872=)
c.4807_4809delinsCAT (p.His1603=)
c.1108_1110delinsCAT (p.His370=)
c.5194_5196delinsCAT (p.His1732=)
c.4558_4560delinsCAT (p.His1520=)
c.1348_1350delinsCAT (p.His450=)
5g.177273777A>CCA362309160NSD1c.4742A>C (p.His1581Pro)
c.257A>C (p.His86Pro)
n.5198A>C
n.364A>C
c.5306A>C (p.His1769Pro)
n.5012A>C
n.5762A>C
n.2534A>C
c.5615A>C (p.His1872Pro)
c.4808A>C (p.His1603Pro)
c.1109A>C (p.His370Pro)
c.5195A>C (p.His1732Pro)
c.4559A>C (p.His1520Pro)
c.1349A>C (p.His450Pro)
5g.177273777A>GCA362309163NSD1c.4742A>G (p.His1581Arg)
c.257A>G (p.His86Arg)
n.5198A>G
n.364A>G
c.5306A>G (p.His1769Arg)
n.5012A>G
n.5762A>G
n.2534A>G
c.5615A>G (p.His1872Arg)
c.4808A>G (p.His1603Arg)
c.1109A>G (p.His370Arg)
c.5195A>G (p.His1732Arg)
c.4559A>G (p.His1520Arg)
c.1349A>G (p.His450Arg)
 gnomAD v4
5g.177273777A>TCA362309168NSD1c.4742A>T (p.His1581Leu)
c.257A>T (p.His86Leu)
n.5198A>T
n.364A>T
c.5306A>T (p.His1769Leu)
n.5012A>T
n.5762A>T
n.2534A>T
c.5615A>T (p.His1872Leu)
c.4808A>T (p.His1603Leu)
c.1109A>T (p.His370Leu)
c.5195A>T (p.His1732Leu)
c.4559A>T (p.His1520Leu)
c.1349A>T (p.His450Leu)
5g.177273780_177273781delCA294972NSD1c.4745_4746del (p.Ile1582LysfsTer18)
c.260_261del (p.Ile87LysfsTer18)
n.5201_5202del
n.367_368del
c.5309_5310del (p.Ile1770LysfsTer18)
n.5015_5016del
n.5765_5766del
n.2537_2538del
c.5618_5619del (p.Ile1873LysfsTer18)
c.4811_4812del (p.Ile1604LysfsTer18)
c.260_261del (p.Ile87LysfsTer?)
c.1112_1113del (p.Ile371LysfsTer18)
c.5198_5199del (p.Ile1733LysfsTer18)
c.4562_4563del (p.Ile1521LysfsTer18)
c.1352_1353del (p.Ile451LysfsTer18)
 ClinVar dbSNP
5g.177273778T>ACA362309176NSD1c.4743T>A (p.His1581Gln)
c.258T>A (p.His86Gln)
n.5199T>A
n.365T>A
c.5307T>A (p.His1769Gln)
n.5013T>A
n.5763T>A
n.2535T>A
c.5616T>A (p.His1872Gln)
c.4809T>A (p.His1603Gln)
c.1110T>A (p.His370Gln)
c.5196T>A (p.His1732Gln)
c.4560T>A (p.His1520Gln)
c.1350T>A (p.His450Gln)
 ClinVar
5g.177273778T>CCA447735246NSD1c.4743T>C (p.His1581=)
c.258T>C (p.His86=)
n.5199T>C
n.365T>C
c.5307T>C (p.His1769=)
n.5013T>C
n.5763T>C
n.2535T>C
c.5616T>C (p.His1872=)
c.4809T>C (p.His1603=)
c.1110T>C (p.His370=)
c.5196T>C (p.His1732=)
c.4560T>C (p.His1520=)
c.1350T>C (p.His450=)
5g.177273778T>GCA362309181NSD1c.4743T>G (p.His1581Gln)
c.258T>G (p.His86Gln)
n.5199T>G
n.365T>G
c.5307T>G (p.His1769Gln)
n.5013T>G
n.5763T>G
n.2535T>G
c.5616T>G (p.His1872Gln)
c.4809T>G (p.His1603Gln)
c.1110T>G (p.His370Gln)
c.5196T>G (p.His1732Gln)
c.4560T>G (p.His1520Gln)
c.1350T>G (p.His450Gln)
5g.177273779A>CCA362309192NSD1c.4744A>C (p.Ile1582Leu)
c.259A>C (p.Ile87Leu)
n.5200A>C
n.366A>C
c.5308A>C (p.Ile1770Leu)
n.5014A>C
n.5764A>C
n.2536A>C
c.5617A>C (p.Ile1873Leu)
c.4810A>C (p.Ile1604Leu)
c.1111A>C (p.Ile371Leu)
c.5197A>C (p.Ile1733Leu)
c.4561A>C (p.Ile1521Leu)
c.1351A>C (p.Ile451Leu)
5g.177273779A>GCA362309185NSD1c.4744A>G (p.Ile1582Val)
c.259A>G (p.Ile87Val)
n.5200A>G
n.366A>G
c.5308A>G (p.Ile1770Val)
n.5014A>G
n.5764A>G
n.2536A>G
c.5617A>G (p.Ile1873Val)
c.4810A>G (p.Ile1604Val)
c.1111A>G (p.Ile371Val)
c.5197A>G (p.Ile1733Val)
c.4561A>G (p.Ile1521Val)
c.1351A>G (p.Ile451Val)
 COSMIC COSMIC
5g.177273779A>TCA362309188NSD1c.4744A>T (p.Ile1582Leu)
c.259A>T (p.Ile87Leu)
n.5200A>T
n.366A>T
c.5308A>T (p.Ile1770Leu)
n.5014A>T
n.5764A>T
n.2536A>T
c.5617A>T (p.Ile1873Leu)
c.4810A>T (p.Ile1604Leu)
c.1111A>T (p.Ile371Leu)
c.5197A>T (p.Ile1733Leu)
c.4561A>T (p.Ile1521Leu)
c.1351A>T (p.Ile451Leu)
 gnomAD v4
5g.177273780T>ACA362309196NSD1c.4745T>A (p.Ile1582Lys)
c.260T>A (p.Ile87Lys)
n.5201T>A
n.367T>A
c.5309T>A (p.Ile1770Lys)
n.5015T>A
n.5765T>A
n.2537T>A
c.5618T>A (p.Ile1873Lys)
c.4811T>A (p.Ile1604Lys)
c.1112T>A (p.Ile371Lys)
c.5198T>A (p.Ile1733Lys)
c.4562T>A (p.Ile1521Lys)
c.1352T>A (p.Ile451Lys)
5g.177273780T>CCA362309200NSD1c.4745T>C (p.Ile1582Thr)
c.260T>C (p.Ile87Thr)
n.5201T>C
n.367T>C
c.5309T>C (p.Ile1770Thr)
n.5015T>C
n.5765T>C
n.2537T>C
c.5618T>C (p.Ile1873Thr)
c.4811T>C (p.Ile1604Thr)
c.1112T>C (p.Ile371Thr)
c.5198T>C (p.Ile1733Thr)
c.4562T>C (p.Ile1521Thr)
c.1352T>C (p.Ile451Thr)
5g.177273780T>GCA362309204NSD1c.4745T>G (p.Ile1582Arg)
c.260T>G (p.Ile87Arg)
n.5201T>G
n.367T>G
c.5309T>G (p.Ile1770Arg)
n.5015T>G
n.5765T>G
n.2537T>G
c.5618T>G (p.Ile1873Arg)
c.4811T>G (p.Ile1604Arg)
c.1112T>G (p.Ile371Arg)
c.5198T>G (p.Ile1733Arg)
c.4562T>G (p.Ile1521Arg)
c.1352T>G (p.Ile451Arg)

Number of alleles fetched