Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.177280646G>ACA362312567NSD1c.4831G>A (p.Glu1611Lys)
c.346G>A (p.Glu116Lys)
n.5287G>A
n.453G>A
c.5395G>A (p.Glu1799Lys)
n.5101G>A
n.5851G>A
n.2623G>A
c.5704G>A (p.Glu1902Lys)
c.4897G>A (p.Glu1633Lys)
c.1198G>A (p.Glu400Lys)
c.5284G>A (p.Glu1762Lys)
c.4648G>A (p.Glu1550Lys)
c.1438G>A (p.Glu480Lys)
5g.177280646G>CCA362312571NSD1c.4831G>C (p.Glu1611Gln)
c.346G>C (p.Glu116Gln)
n.5287G>C
n.453G>C
c.5395G>C (p.Glu1799Gln)
n.5101G>C
n.5851G>C
n.2623G>C
c.5704G>C (p.Glu1902Gln)
c.4897G>C (p.Glu1633Gln)
c.1198G>C (p.Glu400Gln)
c.5284G>C (p.Glu1762Gln)
c.4648G>C (p.Glu1550Gln)
c.1438G>C (p.Glu480Gln)
5g.177280646G>TCA362312574NSD1c.4831G>T (p.Glu1611Ter)
c.346G>T (p.Glu116Ter)
n.5287G>T
n.453G>T
c.5395G>T (p.Glu1799Ter)
n.5101G>T
n.5851G>T
n.2623G>T
c.5704G>T (p.Glu1902Ter)
c.4897G>T (p.Glu1633Ter)
c.1198G>T (p.Glu400Ter)
c.5284G>T (p.Glu1762Ter)
c.4648G>T (p.Glu1550Ter)
c.1438G>T (p.Glu480Ter)
5g.177280647A>CCA362312589NSD1c.4832A>C (p.Glu1611Ala)
c.347A>C (p.Glu116Ala)
n.5288A>C
n.454A>C
c.5396A>C (p.Glu1799Ala)
n.5102A>C
n.5852A>C
n.2624A>C
c.5705A>C (p.Glu1902Ala)
c.4898A>C (p.Glu1633Ala)
c.1199A>C (p.Glu400Ala)
c.5285A>C (p.Glu1762Ala)
c.4649A>C (p.Glu1550Ala)
c.1439A>C (p.Glu480Ala)
5g.177280647A>GCA362312592NSD1c.4832A>G (p.Glu1611Gly)
c.347A>G (p.Glu116Gly)
n.5288A>G
n.454A>G
c.5396A>G (p.Glu1799Gly)
n.5102A>G
n.5852A>G
n.2624A>G
c.5705A>G (p.Glu1902Gly)
c.4898A>G (p.Glu1633Gly)
c.1199A>G (p.Glu400Gly)
c.5285A>G (p.Glu1762Gly)
c.4649A>G (p.Glu1550Gly)
c.1439A>G (p.Glu480Gly)
5g.177280647A>TCA362312596NSD1c.4832A>T (p.Glu1611Val)
c.347A>T (p.Glu116Val)
n.5288A>T
n.454A>T
c.5396A>T (p.Glu1799Val)
n.5102A>T
n.5852A>T
n.2624A>T
c.5705A>T (p.Glu1902Val)
c.4898A>T (p.Glu1633Val)
c.1199A>T (p.Glu400Val)
c.5285A>T (p.Glu1762Val)
c.4649A>T (p.Glu1550Val)
c.1439A>T (p.Glu480Val)
5g.177280648G>ACA447961360NSD1c.4833G>A (p.Glu1611=)
c.348G>A (p.Glu116=)
n.5289G>A
n.455G>A
c.5397G>A (p.Glu1799=)
n.5103G>A
n.5853G>A
n.2625G>A
c.5706G>A (p.Glu1902=)
c.4899G>A (p.Glu1633=)
c.1200G>A (p.Glu400=)
c.5286G>A (p.Glu1762=)
c.4650G>A (p.Glu1550=)
c.1440G>A (p.Glu480=)
5g.177280648G>CCA362312601NSD1c.4833G>C (p.Glu1611Asp)
c.348G>C (p.Glu116Asp)
n.5289G>C
n.455G>C
c.5397G>C (p.Glu1799Asp)
n.5103G>C
n.5853G>C
n.2625G>C
c.5706G>C (p.Glu1902Asp)
c.4899G>C (p.Glu1633Asp)
c.1200G>C (p.Glu400Asp)
c.5286G>C (p.Glu1762Asp)
c.4650G>C (p.Glu1550Asp)
c.1440G>C (p.Glu480Asp)
5g.177280648G>TCA362312604NSD1c.4833G>T (p.Glu1611Asp)
c.348G>T (p.Glu116Asp)
n.5289G>T
n.455G>T
c.5397G>T (p.Glu1799Asp)
n.5103G>T
n.5853G>T
n.2625G>T
c.5706G>T (p.Glu1902Asp)
c.4899G>T (p.Glu1633Asp)
c.1200G>T (p.Glu400Asp)
c.5286G>T (p.Glu1762Asp)
c.4650G>T (p.Glu1550Asp)
c.1440G>T (p.Glu480Asp)
5g.177280649A>CCA362312609NSD1c.4834A>C (p.Asn1612His)
c.349A>C (p.Asn117His)
n.5290A>C
n.456A>C
c.5398A>C (p.Asn1800His)
n.5104A>C
n.5854A>C
n.2626A>C
c.5707A>C (p.Asn1903His)
c.4900A>C (p.Asn1634His)
c.1201A>C (p.Asn401His)
c.5287A>C (p.Asn1763His)
c.4651A>C (p.Asn1551His)
c.1441A>C (p.Asn481His)
5g.177280649A>GCA362312614NSD1c.4834A>G (p.Asn1612Asp)
c.349A>G (p.Asn117Asp)
n.5290A>G
n.456A>G
c.5398A>G (p.Asn1800Asp)
n.5104A>G
n.5854A>G
n.2626A>G
c.5707A>G (p.Asn1903Asp)
c.4900A>G (p.Asn1634Asp)
c.1201A>G (p.Asn401Asp)
c.5287A>G (p.Asn1763Asp)
c.4651A>G (p.Asn1551Asp)
c.1441A>G (p.Asn481Asp)
5g.177280649A>TCA362312618NSD1c.4834A>T (p.Asn1612Tyr)
c.349A>T (p.Asn117Tyr)
n.5290A>T
n.456A>T
c.5398A>T (p.Asn1800Tyr)
n.5104A>T
n.5854A>T
n.2626A>T
c.5707A>T (p.Asn1903Tyr)
c.4900A>T (p.Asn1634Tyr)
c.1201A>T (p.Asn401Tyr)
c.5287A>T (p.Asn1763Tyr)
c.4651A>T (p.Asn1551Tyr)
c.1441A>T (p.Asn481Tyr)
5g.177280650A>CCA362312623NSD1c.4835A>C (p.Asn1612Thr)
c.350A>C (p.Asn117Thr)
n.5291A>C
n.457A>C
c.5399A>C (p.Asn1800Thr)
n.5105A>C
n.5855A>C
n.2627A>C
c.5708A>C (p.Asn1903Thr)
c.4901A>C (p.Asn1634Thr)
c.1202A>C (p.Asn401Thr)
c.5288A>C (p.Asn1763Thr)
c.4652A>C (p.Asn1551Thr)
c.1442A>C (p.Asn481Thr)
5g.177280650A>GCA362312631NSD1c.4835A>G (p.Asn1612Ser)
c.350A>G (p.Asn117Ser)
n.5291A>G
n.457A>G
c.5399A>G (p.Asn1800Ser)
n.5105A>G
n.5855A>G
n.2627A>G
c.5708A>G (p.Asn1903Ser)
c.4901A>G (p.Asn1634Ser)
c.1202A>G (p.Asn401Ser)
c.5288A>G (p.Asn1763Ser)
c.4652A>G (p.Asn1551Ser)
c.1442A>G (p.Asn481Ser)
 gnomAD v4
5g.177280650A>TCA362312628NSD1c.4835A>T (p.Asn1612Ile)
c.350A>T (p.Asn117Ile)
n.5291A>T
n.457A>T
c.5399A>T (p.Asn1800Ile)
n.5105A>T
n.5855A>T
n.2627A>T
c.5708A>T (p.Asn1903Ile)
c.4901A>T (p.Asn1634Ile)
c.1202A>T (p.Asn401Ile)
c.5288A>T (p.Asn1763Ile)
c.4652A>T (p.Asn1551Ile)
c.1442A>T (p.Asn481Ile)
5g.177280650_177280651delinsACCA1603550337NSD1c.4835_4836delinsAC (p.Asn1612=)
c.350_351delinsAC (p.Asn117=)
n.5291_5292delinsAC
n.457_458delinsAC
c.5399_5400delinsAC (p.Asn1800=)
n.5105_5106delinsAC
n.5855_5856delinsAC
n.2627_2628delinsAC
c.5708_5709delinsAC (p.Asn1903=)
c.4901_4902delinsAC (p.Asn1634=)
c.1202_1203delinsAC (p.Asn401=)
c.5288_5289delinsAC (p.Asn1763=)
c.4652_4653delinsAC (p.Asn1551=)
c.1442_1443delinsAC (p.Asn481=)
5g.177280651C>ACA362312636NSD1c.4836C>A (p.Asn1612Lys)
c.351C>A (p.Asn117Lys)
n.5292C>A
n.458C>A
c.5400C>A (p.Asn1800Lys)
n.5106C>A
n.5856C>A
n.2628C>A
c.5709C>A (p.Asn1903Lys)
c.4902C>A (p.Asn1634Lys)
c.1203C>A (p.Asn401Lys)
c.5289C>A (p.Asn1763Lys)
c.4653C>A (p.Asn1551Lys)
c.1443C>A (p.Asn481Lys)
 gnomAD v4
5g.177280651C>GCA362312641NSD1c.4836C>G (p.Asn1612Lys)
c.351C>G (p.Asn117Lys)
n.5292C>G
n.458C>G
c.5400C>G (p.Asn1800Lys)
n.5106C>G
n.5856C>G
n.2628C>G
c.5709C>G (p.Asn1903Lys)
c.4902C>G (p.Asn1634Lys)
c.1203C>G (p.Asn401Lys)
c.5289C>G (p.Asn1763Lys)
c.4653C>G (p.Asn1551Lys)
c.1443C>G (p.Asn481Lys)
 gnomAD v4
5g.177280651C>TCA447961373NSD1c.4836C>T (p.Asn1612=)
c.351C>T (p.Asn117=)
n.5292C>T
n.458C>T
c.5400C>T (p.Asn1800=)
n.5106C>T
n.5856C>T
n.2628C>T
c.5709C>T (p.Asn1903=)
c.4902C>T (p.Asn1634=)
c.1203C>T (p.Asn401=)
c.5289C>T (p.Asn1763=)
c.4653C>T (p.Asn1551=)
c.1443C>T (p.Asn481=)
 dbSNP
5g.177280654delCA294973NSD1c.4839del (p.Cys1614ValfsTer3)
c.354del (p.Cys119ValfsTer3)
n.5295del
n.461del
c.5403del (p.Cys1802ValfsTer3)
n.5109del
n.5859del
n.2631del
c.5712del (p.Cys1905ValfsTer3)
c.4905del (p.Cys1636ValfsTer3)
c.1206del (p.Cys403ValfsTer3)
c.5292del (p.Cys1765ValfsTer3)
c.4656del (p.Cys1553ValfsTer3)
c.1446del (p.Cys483ValfsTer3)
 ClinVar dbSNP
5g.177280652C>ACA362312649NSD1c.4837C>A (p.Pro1613Thr)
c.352C>A (p.Pro118Thr)
n.5293C>A
n.459C>A
c.5401C>A (p.Pro1801Thr)
n.5107C>A
n.5857C>A
n.2629C>A
c.5710C>A (p.Pro1904Thr)
c.4903C>A (p.Pro1635Thr)
c.1204C>A (p.Pro402Thr)
c.5290C>A (p.Pro1764Thr)
c.4654C>A (p.Pro1552Thr)
c.1444C>A (p.Pro482Thr)
 ClinVar
5g.177280652C>GCA362312656NSD1c.4837C>G (p.Pro1613Ala)
c.352C>G (p.Pro118Ala)
n.5293C>G
n.459C>G
c.5401C>G (p.Pro1801Ala)
n.5107C>G
n.5857C>G
n.2629C>G
c.5710C>G (p.Pro1904Ala)
c.4903C>G (p.Pro1635Ala)
c.1204C>G (p.Pro402Ala)
c.5290C>G (p.Pro1764Ala)
c.4654C>G (p.Pro1552Ala)
c.1444C>G (p.Pro482Ala)
5g.177280652C>TCA362312658NSD1c.4837C>T (p.Pro1613Ser)
c.352C>T (p.Pro118Ser)
n.5293C>T
n.459C>T
c.5401C>T (p.Pro1801Ser)
n.5107C>T
n.5857C>T
n.2629C>T
c.5710C>T (p.Pro1904Ser)
c.4903C>T (p.Pro1635Ser)
c.1204C>T (p.Pro402Ser)
c.5290C>T (p.Pro1764Ser)
c.4654C>T (p.Pro1552Ser)
c.1444C>T (p.Pro482Ser)
 ClinVar
5g.177280653C>ACA362312663NSD1c.4838C>A (p.Pro1613His)
c.353C>A (p.Pro118His)
n.5294C>A
n.460C>A
c.5402C>A (p.Pro1801His)
n.5108C>A
n.5858C>A
n.2630C>A
c.5711C>A (p.Pro1904His)
c.4904C>A (p.Pro1635His)
c.1205C>A (p.Pro402His)
c.5291C>A (p.Pro1764His)
c.4655C>A (p.Pro1552His)
c.1445C>A (p.Pro482His)
 dbSNP
5g.177280653C>GCA362312667NSD1c.4838C>G (p.Pro1613Arg)
c.353C>G (p.Pro118Arg)
n.5294C>G
n.460C>G
c.5402C>G (p.Pro1801Arg)
n.5108C>G
n.5858C>G
n.2630C>G
c.5711C>G (p.Pro1904Arg)
c.4904C>G (p.Pro1635Arg)
c.1205C>G (p.Pro402Arg)
c.5291C>G (p.Pro1764Arg)
c.4655C>G (p.Pro1552Arg)
c.1445C>G (p.Pro482Arg)
5g.177280653C>TCA362312669NSD1c.4838C>T (p.Pro1613Leu)
c.353C>T (p.Pro118Leu)
n.5294C>T
n.460C>T
c.5402C>T (p.Pro1801Leu)
n.5108C>T
n.5858C>T
n.2630C>T
c.5711C>T (p.Pro1904Leu)
c.4904C>T (p.Pro1635Leu)
c.1205C>T (p.Pro402Leu)
c.5291C>T (p.Pro1764Leu)
c.4655C>T (p.Pro1552Leu)
c.1445C>T (p.Pro482Leu)
5g.177280654C>ACA447961376NSD1c.4839C>A (p.Pro1613=)
c.354C>A (p.Pro118=)
n.5295C>A
n.461C>A
c.5403C>A (p.Pro1801=)
n.5109C>A
n.5859C>A
n.2631C>A
c.5712C>A (p.Pro1904=)
c.4905C>A (p.Pro1635=)
c.1206C>A (p.Pro402=)
c.5292C>A (p.Pro1764=)
c.4656C>A (p.Pro1552=)
c.1446C>A (p.Pro482=)
5g.177280654C=CA1603550346NSD1c.4839C= (p.Pro1613=)
c.354C= (p.Pro118=)
n.5295C=
n.461C=
c.5403C= (p.Pro1801=)
n.5109C=
n.5859C=
n.2631C=
c.5712C= (p.Pro1904=)
c.4905C= (p.Pro1635=)
c.1206C= (p.Pro402=)
c.5292C= (p.Pro1764=)
c.4656C= (p.Pro1552=)
c.1446C= (p.Pro482=)
5g.177280654C>GCA447961377NSD1c.4839C>G (p.Pro1613=)
c.354C>G (p.Pro118=)
n.5295C>G
n.461C>G
c.5403C>G (p.Pro1801=)
n.5109C>G
n.5859C>G
n.2631C>G
c.5712C>G (p.Pro1904=)
c.4905C>G (p.Pro1635=)
c.1206C>G (p.Pro402=)
c.5292C>G (p.Pro1764=)
c.4656C>G (p.Pro1552=)
c.1446C>G (p.Pro482=)
5g.177280654C>TCA3577889NSD1c.4839C>T (p.Pro1613=)
c.354C>T (p.Pro118=)
n.5295C>T
n.461C>T
c.5403C>T (p.Pro1801=)
n.5109C>T
n.5859C>T
n.2631C>T
c.5712C>T (p.Pro1904=)
c.4905C>T (p.Pro1635=)
c.1206C>T (p.Pro402=)
c.5292C>T (p.Pro1764=)
c.4656C>T (p.Pro1552=)
c.1446C>T (p.Pro482=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.177280655T>ACA362312687NSD1c.4840T>A (p.Cys1614Ser)
c.355T>A (p.Cys119Ser)
n.5296T>A
n.462T>A
c.5404T>A (p.Cys1802Ser)
n.5110T>A
n.5860T>A
n.2632T>A
c.5713T>A (p.Cys1905Ser)
c.4906T>A (p.Cys1636Ser)
c.1207T>A (p.Cys403Ser)
c.5293T>A (p.Cys1765Ser)
c.4657T>A (p.Cys1553Ser)
c.1447T>A (p.Cys483Ser)
5g.177280655T>CCA362312681NSD1c.4840T>C (p.Cys1614Arg)
c.355T>C (p.Cys119Arg)
n.5296T>C
n.462T>C
c.5404T>C (p.Cys1802Arg)
n.5110T>C
n.5860T>C
n.2632T>C
c.5713T>C (p.Cys1905Arg)
c.4906T>C (p.Cys1636Arg)
c.1207T>C (p.Cys403Arg)
c.5293T>C (p.Cys1765Arg)
c.4657T>C (p.Cys1553Arg)
c.1447T>C (p.Cys483Arg)
5g.177280655T>GCA362312678NSD1c.4840T>G (p.Cys1614Gly)
c.355T>G (p.Cys119Gly)
n.5296T>G
n.462T>G
c.5404T>G (p.Cys1802Gly)
n.5110T>G
n.5860T>G
n.2632T>G
c.5713T>G (p.Cys1905Gly)
c.4906T>G (p.Cys1636Gly)
c.1207T>G (p.Cys403Gly)
c.5293T>G (p.Cys1765Gly)
c.4657T>G (p.Cys1553Gly)
c.1447T>G (p.Cys483Gly)
5g.177280656G>ACA362312691NSD1c.4841G>A (p.Cys1614Tyr)
c.356G>A (p.Cys119Tyr)
n.5297G>A
n.463G>A
c.5405G>A (p.Cys1802Tyr)
n.5111G>A
n.5861G>A
n.2633G>A
c.5714G>A (p.Cys1905Tyr)
c.4907G>A (p.Cys1636Tyr)
c.1208G>A (p.Cys403Tyr)
c.5294G>A (p.Cys1765Tyr)
c.4658G>A (p.Cys1553Tyr)
c.1448G>A (p.Cys483Tyr)
 ClinVar dbSNP
5g.177280656G>CCA362312694NSD1c.4841G>C (p.Cys1614Ser)
c.356G>C (p.Cys119Ser)
n.5297G>C
n.463G>C
c.5405G>C (p.Cys1802Ser)
n.5111G>C
n.5861G>C
n.2633G>C
c.5714G>C (p.Cys1905Ser)
c.4907G>C (p.Cys1636Ser)
c.1208G>C (p.Cys403Ser)
c.5294G>C (p.Cys1765Ser)
c.4658G>C (p.Cys1553Ser)
c.1448G>C (p.Cys483Ser)
 ClinVar dbSNP
5g.177280656G=CA1603550355NSD1c.4841G= (p.Cys1614=)
c.356G= (p.Cys119=)
n.5297G=
n.463G=
c.5405G= (p.Cys1802=)
n.5111G=
n.5861G=
n.2633G=
c.5714G= (p.Cys1905=)
c.4907G= (p.Cys1636=)
c.1208G= (p.Cys403=)
c.5294G= (p.Cys1765=)
c.4658G= (p.Cys1553=)
c.1448G= (p.Cys483=)
5g.177280656G>TCA362312700NSD1c.4841G>T (p.Cys1614Phe)
c.356G>T (p.Cys119Phe)
n.5297G>T
n.463G>T
c.5405G>T (p.Cys1802Phe)
n.5111G>T
n.5861G>T
n.2633G>T
c.5714G>T (p.Cys1905Phe)
c.4907G>T (p.Cys1636Phe)
c.1208G>T (p.Cys403Phe)
c.5294G>T (p.Cys1765Phe)
c.4658G>T (p.Cys1553Phe)
c.1448G>T (p.Cys483Phe)
5g.177280657T>ACA362312703NSD1c.4842T>A (p.Cys1614Ter)
c.357T>A (p.Cys119Ter)
n.5298T>A
n.464T>A
c.5406T>A (p.Cys1802Ter)
n.5112T>A
n.5862T>A
n.2634T>A
c.5715T>A (p.Cys1905Ter)
c.4908T>A (p.Cys1636Ter)
c.1209T>A (p.Cys403Ter)
c.5295T>A (p.Cys1765Ter)
c.4659T>A (p.Cys1553Ter)
c.1449T>A (p.Cys483Ter)
5g.177280657T>CCA447961388NSD1c.4842T>C (p.Cys1614=)
c.357T>C (p.Cys119=)
n.5298T>C
n.464T>C
c.5406T>C (p.Cys1802=)
n.5112T>C
n.5862T>C
n.2634T>C
c.5715T>C (p.Cys1905=)
c.4908T>C (p.Cys1636=)
c.1209T>C (p.Cys403=)
c.5295T>C (p.Cys1765=)
c.4659T>C (p.Cys1553=)
c.1449T>C (p.Cys483=)
5g.177280657T>GCA362312706NSD1c.4842T>G (p.Cys1614Trp)
c.357T>G (p.Cys119Trp)
n.5298T>G
n.464T>G
c.5406T>G (p.Cys1802Trp)
n.5112T>G
n.5862T>G
n.2634T>G
c.5715T>G (p.Cys1905Trp)
c.4908T>G (p.Cys1636Trp)
c.1209T>G (p.Cys403Trp)
c.5295T>G (p.Cys1765Trp)
c.4659T>G (p.Cys1553Trp)
c.1449T>G (p.Cys483Trp)
5g.177280658G>ACA362312710NSD1c.4843G>A (p.Gly1615Arg)
c.358G>A (p.Gly120Arg)
n.5299G>A
n.465G>A
c.5407G>A (p.Gly1803Arg)
n.5113G>A
n.5863G>A
n.2635G>A
c.5716G>A (p.Gly1906Arg)
c.4909G>A (p.Gly1637Arg)
c.1210G>A (p.Gly404Arg)
c.5296G>A (p.Gly1766Arg)
c.4660G>A (p.Gly1554Arg)
c.1450G>A (p.Gly484Arg)
5g.177280658G>CCA362312712NSD1c.4843G>C (p.Gly1615Arg)
c.358G>C (p.Gly120Arg)
n.5299G>C
n.465G>C
c.5407G>C (p.Gly1803Arg)
n.5113G>C
n.5863G>C
n.2635G>C
c.5716G>C (p.Gly1906Arg)
c.4909G>C (p.Gly1637Arg)
c.1210G>C (p.Gly404Arg)
c.5296G>C (p.Gly1766Arg)
c.4660G>C (p.Gly1554Arg)
c.1450G>C (p.Gly484Arg)
5g.177280658G>TCA362312714NSD1c.4843G>T (p.Gly1615Trp)
c.358G>T (p.Gly120Trp)
n.5299G>T
n.465G>T
c.5407G>T (p.Gly1803Trp)
n.5113G>T
n.5863G>T
n.2635G>T
c.5716G>T (p.Gly1906Trp)
c.4909G>T (p.Gly1637Trp)
c.1210G>T (p.Gly404Trp)
c.5296G>T (p.Gly1766Trp)
c.4660G>T (p.Gly1554Trp)
c.1450G>T (p.Gly484Trp)
5g.177280659G>ACA362312718NSD1c.4844G>A (p.Gly1615Glu)
c.359G>A (p.Gly120Glu)
n.5300G>A
n.466G>A
c.5408G>A (p.Gly1803Glu)
n.5114G>A
n.5864G>A
n.2636G>A
c.5717G>A (p.Gly1906Glu)
c.4910G>A (p.Gly1637Glu)
c.1211G>A (p.Gly404Glu)
c.5297G>A (p.Gly1766Glu)
c.4661G>A (p.Gly1554Glu)
c.1451G>A (p.Gly484Glu)
 dbSNP
5g.177280659G>CCA362312721NSD1c.4844G>C (p.Gly1615Ala)
c.359G>C (p.Gly120Ala)
n.5300G>C
n.466G>C
c.5408G>C (p.Gly1803Ala)
n.5114G>C
n.5864G>C
n.2636G>C
c.5717G>C (p.Gly1906Ala)
c.4910G>C (p.Gly1637Ala)
c.1211G>C (p.Gly404Ala)
c.5297G>C (p.Gly1766Ala)
c.4661G>C (p.Gly1554Ala)
c.1451G>C (p.Gly484Ala)
5g.177280659G>TCA362312723NSD1c.4844G>T (p.Gly1615Val)
c.359G>T (p.Gly120Val)
n.5300G>T
n.466G>T
c.5408G>T (p.Gly1803Val)
n.5114G>T
n.5864G>T
n.2636G>T
c.5717G>T (p.Gly1906Val)
c.4910G>T (p.Gly1637Val)
c.1211G>T (p.Gly404Val)
c.5297G>T (p.Gly1766Val)
c.4661G>T (p.Gly1554Val)
c.1451G>T (p.Gly484Val)
5g.177280660G>ACA3577890NSD1c.4845G>A (p.Gly1615=)
c.360G>A (p.Gly120=)
n.5301G>A
n.467G>A
c.5409G>A (p.Gly1803=)
n.5115G>A
n.5865G>A
n.2637G>A
c.5718G>A (p.Gly1906=)
c.4911G>A (p.Gly1637=)
c.1212G>A (p.Gly404=)
c.5298G>A (p.Gly1766=)
c.4662G>A (p.Gly1554=)
c.1452G>A (p.Gly484=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.177280660G>CCA447961395NSD1c.4845G>C (p.Gly1615=)
c.360G>C (p.Gly120=)
n.5301G>C
n.467G>C
c.5409G>C (p.Gly1803=)
n.5115G>C
n.5865G>C
n.2637G>C
c.5718G>C (p.Gly1906=)
c.4911G>C (p.Gly1637=)
c.1212G>C (p.Gly404=)
c.5298G>C (p.Gly1766=)
c.4662G>C (p.Gly1554=)
c.1452G>C (p.Gly484=)
5g.177280660G=CA1603550358NSD1c.4845G= (p.Gly1615=)
c.360G= (p.Gly120=)
n.5301G=
n.467G=
c.5409G= (p.Gly1803=)
n.5115G=
n.5865G=
n.2637G=
c.5718G= (p.Gly1906=)
c.4911G= (p.Gly1637=)
c.1212G= (p.Gly404=)
c.5298G= (p.Gly1766=)
c.4662G= (p.Gly1554=)
c.1452G= (p.Gly484=)
5g.177280660G>TCA447961397NSD1c.4845G>T (p.Gly1615=)
c.360G>T (p.Gly120=)
n.5301G>T
n.467G>T
c.5409G>T (p.Gly1803=)
n.5115G>T
n.5865G>T
n.2637G>T
c.5718G>T (p.Gly1906=)
c.4911G>T (p.Gly1637=)
c.1212G>T (p.Gly404=)
c.5298G>T (p.Gly1766=)
c.4662G>T (p.Gly1554=)
c.1452G>T (p.Gly484=)
5g.177280661A>CCA362312740NSD1c.4846A>C (p.Ile1616Leu)
c.361A>C (p.Ile121Leu)
n.5302A>C
n.468A>C
c.5410A>C (p.Ile1804Leu)
n.5116A>C
n.5866A>C
n.2638A>C
c.5719A>C (p.Ile1907Leu)
c.4912A>C (p.Ile1638Leu)
c.1213A>C (p.Ile405Leu)
c.5299A>C (p.Ile1767Leu)
c.4663A>C (p.Ile1555Leu)
c.1453A>C (p.Ile485Leu)
5g.177280661A>GCA362312737NSD1c.4846A>G (p.Ile1616Val)
c.361A>G (p.Ile121Val)
n.5302A>G
n.468A>G
c.5410A>G (p.Ile1804Val)
n.5116A>G
n.5866A>G
n.2638A>G
c.5719A>G (p.Ile1907Val)
c.4912A>G (p.Ile1638Val)
c.1213A>G (p.Ile405Val)
c.5299A>G (p.Ile1767Val)
c.4663A>G (p.Ile1555Val)
c.1453A>G (p.Ile485Val)
 COSMIC COSMIC
5g.177280661A>TCA362312733NSD1c.4846A>T (p.Ile1616Leu)
c.361A>T (p.Ile121Leu)
n.5302A>T
n.468A>T
c.5410A>T (p.Ile1804Leu)
n.5116A>T
n.5866A>T
n.2638A>T
c.5719A>T (p.Ile1907Leu)
c.4912A>T (p.Ile1638Leu)
c.1213A>T (p.Ile405Leu)
c.5299A>T (p.Ile1767Leu)
c.4663A>T (p.Ile1555Leu)
c.1453A>T (p.Ile485Leu)
5g.177280662T>ACA362312743NSD1c.4847T>A (p.Ile1616Lys)
c.362T>A (p.Ile121Lys)
n.5303T>A
n.469T>A
c.5411T>A (p.Ile1804Lys)
n.5117T>A
n.5867T>A
n.2639T>A
c.5720T>A (p.Ile1907Lys)
c.4913T>A (p.Ile1638Lys)
c.1214T>A (p.Ile405Lys)
c.5300T>A (p.Ile1767Lys)
c.4664T>A (p.Ile1555Lys)
c.1454T>A (p.Ile485Lys)
5g.177280662T>CCA362312746NSD1c.4847T>C (p.Ile1616Thr)
c.362T>C (p.Ile121Thr)
n.5303T>C
n.469T>C
c.5411T>C (p.Ile1804Thr)
n.5117T>C
n.5867T>C
n.2639T>C
c.5720T>C (p.Ile1907Thr)
c.4913T>C (p.Ile1638Thr)
c.1214T>C (p.Ile405Thr)
c.5300T>C (p.Ile1767Thr)
c.4664T>C (p.Ile1555Thr)
c.1454T>C (p.Ile485Thr)
 gnomAD v4
5g.177280662T>GCA362312748NSD1c.4847T>G (p.Ile1616Arg)
c.362T>G (p.Ile121Arg)
n.5303T>G
n.469T>G
c.5411T>G (p.Ile1804Arg)
n.5117T>G
n.5867T>G
n.2639T>G
c.5720T>G (p.Ile1907Arg)
c.4913T>G (p.Ile1638Arg)
c.1214T>G (p.Ile405Arg)
c.5300T>G (p.Ile1767Arg)
c.4664T>G (p.Ile1555Arg)
c.1454T>G (p.Ile485Arg)
5g.177280662T=CA1603550363NSD1c.4847T= (p.Ile1616=)
c.362T= (p.Ile121=)
n.5303T=
n.469T=
c.5411T= (p.Ile1804=)
n.5117T=
n.5867T=
n.2639T=
c.5720T= (p.Ile1907=)
c.4913T= (p.Ile1638=)
c.1214T= (p.Ile405=)
c.5300T= (p.Ile1767=)
c.4664T= (p.Ile1555=)
c.1454T= (p.Ile485=)
5g.177280663A=CA1603550371NSD1c.4848A= (p.Ile1616=)
c.363A= (p.Ile121=)
n.5304A=
n.470A=
c.5412A= (p.Ile1804=)
n.5118A=
n.5868A=
n.2640A=
c.5721A= (p.Ile1907=)
c.4914A= (p.Ile1638=)
c.1215A= (p.Ile405=)
c.5301A= (p.Ile1767=)
c.4665A= (p.Ile1555=)
c.1455A= (p.Ile485=)
5g.177280663A>CCA447961407NSD1c.4848A>C (p.Ile1616=)
c.363A>C (p.Ile121=)
n.5304A>C
n.470A>C
c.5412A>C (p.Ile1804=)
n.5118A>C
n.5868A>C
n.2640A>C
c.5721A>C (p.Ile1907=)
c.4914A>C (p.Ile1638=)
c.1215A>C (p.Ile405=)
c.5301A>C (p.Ile1767=)
c.4665A>C (p.Ile1555=)
c.1455A>C (p.Ile485=)
5g.177280663A>GCA362312753NSD1c.4848A>G (p.Ile1616Met)
c.363A>G (p.Ile121Met)
n.5304A>G
n.470A>G
c.5412A>G (p.Ile1804Met)
n.5118A>G
n.5868A>G
n.2640A>G
c.5721A>G (p.Ile1907Met)
c.4914A>G (p.Ile1638Met)
c.1215A>G (p.Ile405Met)
c.5301A>G (p.Ile1767Met)
c.4665A>G (p.Ile1555Met)
c.1455A>G (p.Ile485Met)
5g.177280663A>TCA132847217NSD1c.4848A>T (p.Ile1616=)
c.363A>T (p.Ile121=)
n.5304A>T
n.470A>T
c.5412A>T (p.Ile1804=)
n.5118A>T
n.5868A>T
n.2640A>T
c.5721A>T (p.Ile1907=)
c.4914A>T (p.Ile1638=)
c.1215A>T (p.Ile405=)
c.5301A>T (p.Ile1767=)
c.4665A>T (p.Ile1555=)
c.1455A>T (p.Ile485=)
 dbSNP gnomAD v4
5g.177280663dupCA915942758NSD1c.4848dup (p.Asp1617ArgfsTer3)
c.363dup (p.Asp122ArgfsTer3)
n.5304dup
n.470dup
c.5412dup (p.Asp1805ArgfsTer3)
n.5118dup
n.5868dup
n.2640dup
c.5721dup (p.Asp1908ArgfsTer3)
c.4914dup (p.Asp1639ArgfsTer3)
c.1215dup (p.Asp406ArgfsTer3)
c.5301dup (p.Asp1768ArgfsTer3)
c.4665dup (p.Asp1556ArgfsTer3)
c.1455dup (p.Asp486ArgfsTer3)
 ClinVar dbSNP
5g.177280664G>ACA362312760NSD1c.4849G>A (p.Asp1617Asn)
c.364G>A (p.Asp122Asn)
n.5305G>A
n.471G>A
c.5413G>A (p.Asp1805Asn)
n.5119G>A
n.5869G>A
n.2641G>A
c.5722G>A (p.Asp1908Asn)
c.4915G>A (p.Asp1639Asn)
c.1216G>A (p.Asp406Asn)
c.5302G>A (p.Asp1768Asn)
c.4666G>A (p.Asp1556Asn)
c.1456G>A (p.Asp486Asn)
5g.177280664G>CCA362312762NSD1c.4849G>C (p.Asp1617His)
c.364G>C (p.Asp122His)
n.5305G>C
n.471G>C
c.5413G>C (p.Asp1805His)
n.5119G>C
n.5869G>C
n.2641G>C
c.5722G>C (p.Asp1908His)
c.4915G>C (p.Asp1639His)
c.1216G>C (p.Asp406His)
c.5302G>C (p.Asp1768His)
c.4666G>C (p.Asp1556His)
c.1456G>C (p.Asp486His)
 gnomAD v4
5g.177280664G>TCA362312766NSD1c.4849G>T (p.Asp1617Tyr)
c.364G>T (p.Asp122Tyr)
n.5305G>T
n.471G>T
c.5413G>T (p.Asp1805Tyr)
n.5119G>T
n.5869G>T
n.2641G>T
c.5722G>T (p.Asp1908Tyr)
c.4915G>T (p.Asp1639Tyr)
c.1216G>T (p.Asp406Tyr)
c.5302G>T (p.Asp1768Tyr)
c.4666G>T (p.Asp1556Tyr)
c.1456G>T (p.Asp486Tyr)
5g.177280665A>CCA362312771NSD1c.4850A>C (p.Asp1617Ala)
c.365A>C (p.Asp122Ala)
n.5306A>C
n.472A>C
c.5414A>C (p.Asp1805Ala)
n.5120A>C
n.5870A>C
n.2642A>C
c.5723A>C (p.Asp1908Ala)
c.4916A>C (p.Asp1639Ala)
c.1217A>C (p.Asp406Ala)
c.5303A>C (p.Asp1768Ala)
c.4667A>C (p.Asp1556Ala)
c.1457A>C (p.Asp486Ala)
5g.177280665A>GCA362312774NSD1c.4850A>G (p.Asp1617Gly)
c.365A>G (p.Asp122Gly)
n.5306A>G
n.472A>G
c.5414A>G (p.Asp1805Gly)
n.5120A>G
n.5870A>G
n.2642A>G
c.5723A>G (p.Asp1908Gly)
c.4916A>G (p.Asp1639Gly)
c.1217A>G (p.Asp406Gly)
c.5303A>G (p.Asp1768Gly)
c.4667A>G (p.Asp1556Gly)
c.1457A>G (p.Asp486Gly)
5g.177280665A>TCA362312778NSD1c.4850A>T (p.Asp1617Val)
c.365A>T (p.Asp122Val)
n.5306A>T
n.472A>T
c.5414A>T (p.Asp1805Val)
n.5120A>T
n.5870A>T
n.2642A>T
c.5723A>T (p.Asp1908Val)
c.4916A>T (p.Asp1639Val)
c.1217A>T (p.Asp406Val)
c.5303A>T (p.Asp1768Val)
c.4667A>T (p.Asp1556Val)
c.1457A>T (p.Asp486Val)
5g.177280665_177280666delCA913108630NSD1c.4850_4851del (p.Asp1617ValfsTer2)
c.365_366del (p.Asp122ValfsTer2)
n.5306_5307del
n.472_473del
c.5414_5415del (p.Asp1805ValfsTer2)
n.5120_5121del
n.5870_5871del
n.2642_2643del
c.5723_5724del (p.Asp1908ValfsTer2)
c.4916_4917del (p.Asp1639ValfsTer2)
c.1217_1218del (p.Asp406ValfsTer2)
c.5303_5304del (p.Asp1768ValfsTer2)
c.4667_4668del (p.Asp1556ValfsTer2)
c.1457_1458del (p.Asp486ValfsTer2)
5g.177280665_177280666delinsACCA1603550374NSD1c.4850_4851delinsAC (p.Asp1617=)
c.365_366delinsAC (p.Asp122=)
n.5306_5307delinsAC
n.472_473delinsAC
c.5414_5415delinsAC (p.Asp1805=)
n.5120_5121delinsAC
n.5870_5871delinsAC
n.2642_2643delinsAC
c.5723_5724delinsAC (p.Asp1908=)
c.4916_4917delinsAC (p.Asp1639=)
c.1217_1218delinsAC (p.Asp406=)
c.5303_5304delinsAC (p.Asp1768=)
c.4667_4668delinsAC (p.Asp1556=)
c.1457_1458delinsAC (p.Asp486=)
5g.177280666delCA658822920NSD1c.4851del (p.Ser1618LeufsTer?)
c.366del (p.Ser123LeufsTer?)
n.5307del
n.473del
c.5415del (p.Ser1806LeufsTer?)
n.5121del
n.5871del
n.2643del
c.5724del (p.Ser1909LeufsTer?)
c.4917del (p.Ser1640LeufsTer?)
c.1218del (p.Ser407LeufsTer?)
c.5304del (p.Ser1769LeufsTer?)
c.4668del (p.Ser1557LeufsTer?)
c.1458del (p.Ser487LeufsTer?)
 ClinVar dbSNP
5g.177280666C>ACA362312782NSD1c.4851C>A (p.Asp1617Glu)
c.366C>A (p.Asp122Glu)
n.5307C>A
n.473C>A
c.5415C>A (p.Asp1805Glu)
n.5121C>A
n.5871C>A
n.2643C>A
c.5724C>A (p.Asp1908Glu)
c.4917C>A (p.Asp1639Glu)
c.1218C>A (p.Asp406Glu)
c.5304C>A (p.Asp1768Glu)
c.4668C>A (p.Asp1556Glu)
c.1458C>A (p.Asp486Glu)
5g.177280666C>GCA362312785NSD1c.4851C>G (p.Asp1617Glu)
c.366C>G (p.Asp122Glu)
n.5307C>G
n.473C>G
c.5415C>G (p.Asp1805Glu)
n.5121C>G
n.5871C>G
n.2643C>G
c.5724C>G (p.Asp1908Glu)
c.4917C>G (p.Asp1639Glu)
c.1218C>G (p.Asp406Glu)
c.5304C>G (p.Asp1768Glu)
c.4668C>G (p.Asp1556Glu)
c.1458C>G (p.Asp486Glu)
 gnomAD v4
5g.177280666C>TCA447961422NSD1c.4851C>T (p.Asp1617=)
c.366C>T (p.Asp122=)
n.5307C>T
n.473C>T
c.5415C>T (p.Asp1805=)
n.5121C>T
n.5871C>T
n.2643C>T
c.5724C>T (p.Asp1908=)
c.4917C>T (p.Asp1639=)
c.1218C>T (p.Asp406=)
c.5304C>T (p.Asp1768=)
c.4668C>T (p.Asp1556=)
c.1458C>T (p.Asp486=)
5g.177280668_177280669delCA2580614821NSD1c.4853_4854del (p.Ser1618Ter)
c.368_369del (p.Ser123Ter)
n.5309_5310del
n.475_476del
c.5417_5418del (p.Ser1806Ter)
n.5123_5124del
n.5873_5874del
n.2645_2646del
c.5726_5727del (p.Ser1909Ter)
c.4919_4920del (p.Ser1640Ter)
c.1220_1221del (p.Ser407Ter)
c.5306_5307del (p.Ser1769Ter)
c.4670_4671del (p.Ser1557Ter)
c.1460_1461del (p.Ser487Ter)
 ClinVar dbSNP
5g.177280667T>ACA362312804NSD1c.4852T>A (p.Ser1618Thr)
c.367T>A (p.Ser123Thr)
n.5308T>A
n.474T>A
c.5416T>A (p.Ser1806Thr)
n.5122T>A
n.5872T>A
n.2644T>A
c.5725T>A (p.Ser1909Thr)
c.4918T>A (p.Ser1640Thr)
c.1219T>A (p.Ser407Thr)
c.5305T>A (p.Ser1769Thr)
c.4669T>A (p.Ser1557Thr)
c.1459T>A (p.Ser487Thr)
5g.177280667T>CCA362312807NSD1c.4852T>C (p.Ser1618Pro)
c.367T>C (p.Ser123Pro)
n.5308T>C
n.474T>C
c.5416T>C (p.Ser1806Pro)
n.5122T>C
n.5872T>C
n.2644T>C
c.5725T>C (p.Ser1909Pro)
c.4918T>C (p.Ser1640Pro)
c.1219T>C (p.Ser407Pro)
c.5305T>C (p.Ser1769Pro)
c.4669T>C (p.Ser1557Pro)
c.1459T>C (p.Ser487Pro)
 ClinVar
5g.177280667T>GCA362312791NSD1c.4852T>G (p.Ser1618Ala)
c.367T>G (p.Ser123Ala)
n.5308T>G
n.474T>G
c.5416T>G (p.Ser1806Ala)
n.5122T>G
n.5872T>G
n.2644T>G
c.5725T>G (p.Ser1909Ala)
c.4918T>G (p.Ser1640Ala)
c.1219T>G (p.Ser407Ala)
c.5305T>G (p.Ser1769Ala)
c.4669T>G (p.Ser1557Ala)
c.1459T>G (p.Ser487Ala)
5g.177280668C>ACA362312816NSD1c.4853C>A (p.Ser1618Tyr)
c.368C>A (p.Ser123Tyr)
n.5309C>A
n.475C>A
c.5417C>A (p.Ser1806Tyr)
n.5123C>A
n.5873C>A
n.2645C>A
c.5726C>A (p.Ser1909Tyr)
c.4919C>A (p.Ser1640Tyr)
c.1220C>A (p.Ser407Tyr)
c.5306C>A (p.Ser1769Tyr)
c.4670C>A (p.Ser1557Tyr)
c.1460C>A (p.Ser487Tyr)
5g.177280668C>GCA362312813NSD1c.4853C>G (p.Ser1618Cys)
c.368C>G (p.Ser123Cys)
n.5309C>G
n.475C>G
c.5417C>G (p.Ser1806Cys)
n.5123C>G
n.5873C>G
n.2645C>G
c.5726C>G (p.Ser1909Cys)
c.4919C>G (p.Ser1640Cys)
c.1220C>G (p.Ser407Cys)
c.5306C>G (p.Ser1769Cys)
c.4670C>G (p.Ser1557Cys)
c.1460C>G (p.Ser487Cys)
 COSMIC COSMIC
5g.177280668C>TCA362312820NSD1c.4853C>T (p.Ser1618Phe)
c.368C>T (p.Ser123Phe)
n.5309C>T
n.475C>T
c.5417C>T (p.Ser1806Phe)
n.5123C>T
n.5873C>T
n.2645C>T
c.5726C>T (p.Ser1909Phe)
c.4919C>T (p.Ser1640Phe)
c.1220C>T (p.Ser407Phe)
c.5306C>T (p.Ser1769Phe)
c.4670C>T (p.Ser1557Phe)
c.1460C>T (p.Ser487Phe)
 dbSNP
5g.177280669T>ACA447961428NSD1c.4854T>A (p.Ser1618=)
c.369T>A (p.Ser123=)
n.5310T>A
n.476T>A
c.5418T>A (p.Ser1806=)
n.5124T>A
n.5874T>A
n.2646T>A
c.5727T>A (p.Ser1909=)
c.4920T>A (p.Ser1640=)
c.1221T>A (p.Ser407=)
c.5307T>A (p.Ser1769=)
c.4671T>A (p.Ser1557=)
c.1461T>A (p.Ser487=)
 gnomAD v4
5g.177280669T>CCA447961429NSD1c.4854T>C (p.Ser1618=)
c.369T>C (p.Ser123=)
n.5310T>C
n.476T>C
c.5418T>C (p.Ser1806=)
n.5124T>C
n.5874T>C
n.2646T>C
c.5727T>C (p.Ser1909=)
c.4920T>C (p.Ser1640=)
c.1221T>C (p.Ser407=)
c.5307T>C (p.Ser1769=)
c.4671T>C (p.Ser1557=)
c.1461T>C (p.Ser487=)
5g.177280669T>GCA447961430NSD1c.4854T>G (p.Ser1618=)
c.369T>G (p.Ser123=)
n.5310T>G
n.476T>G
c.5418T>G (p.Ser1806=)
n.5124T>G
n.5874T>G
n.2646T>G
c.5727T>G (p.Ser1909=)
c.4920T>G (p.Ser1640=)
c.1221T>G (p.Ser407=)
c.5307T>G (p.Ser1769=)
c.4671T>G (p.Ser1557=)
c.1461T>G (p.Ser487=)
5g.177280670G>ACA362312827NSD1c.4855G>A (p.Glu1619Lys)
c.370G>A (p.Glu124Lys)
n.5311G>A
n.477G>A
c.5419G>A (p.Glu1807Lys)
n.5125G>A
n.5875G>A
n.2647G>A
c.5728G>A (p.Glu1910Lys)
c.4921G>A (p.Glu1641Lys)
c.1222G>A (p.Glu408Lys)
c.5308G>A (p.Glu1770Lys)
c.4672G>A (p.Glu1558Lys)
c.1462G>A (p.Glu488Lys)
5g.177280670G>CCA362312835NSD1c.4855G>C (p.Glu1619Gln)
c.370G>C (p.Glu124Gln)
n.5311G>C
n.477G>C
c.5419G>C (p.Glu1807Gln)
n.5125G>C
n.5875G>C
n.2647G>C
c.5728G>C (p.Glu1910Gln)
c.4921G>C (p.Glu1641Gln)
c.1222G>C (p.Glu408Gln)
c.5308G>C (p.Glu1770Gln)
c.4672G>C (p.Glu1558Gln)
c.1462G>C (p.Glu488Gln)
5g.177280670G>TCA362312831NSD1c.4855G>T (p.Glu1619Ter)
c.370G>T (p.Glu124Ter)
n.5311G>T
n.477G>T
c.5419G>T (p.Glu1807Ter)
n.5125G>T
n.5875G>T
n.2647G>T
c.5728G>T (p.Glu1910Ter)
c.4921G>T (p.Glu1641Ter)
c.1222G>T (p.Glu408Ter)
c.5308G>T (p.Glu1770Ter)
c.4672G>T (p.Glu1558Ter)
c.1462G>T (p.Glu488Ter)
5g.177280671A>CCA362312840NSD1c.4856A>C (p.Glu1619Ala)
c.371A>C (p.Glu124Ala)
n.5312A>C
n.478A>C
c.5420A>C (p.Glu1807Ala)
n.5126A>C
n.5876A>C
n.2648A>C
c.5729A>C (p.Glu1910Ala)
c.4922A>C (p.Glu1641Ala)
c.1223A>C (p.Glu408Ala)
c.5309A>C (p.Glu1770Ala)
c.4673A>C (p.Glu1558Ala)
c.1463A>C (p.Glu488Ala)
5g.177280671A>GCA362312845NSD1c.4856A>G (p.Glu1619Gly)
c.371A>G (p.Glu124Gly)
n.5312A>G
n.478A>G
c.5420A>G (p.Glu1807Gly)
n.5126A>G
n.5876A>G
n.2648A>G
c.5729A>G (p.Glu1910Gly)
c.4922A>G (p.Glu1641Gly)
c.1223A>G (p.Glu408Gly)
c.5309A>G (p.Glu1770Gly)
c.4673A>G (p.Glu1558Gly)
c.1463A>G (p.Glu488Gly)
5g.177280671A>TCA362312842NSD1c.4856A>T (p.Glu1619Val)
c.371A>T (p.Glu124Val)
n.5312A>T
n.478A>T
c.5420A>T (p.Glu1807Val)
n.5126A>T
n.5876A>T
n.2648A>T
c.5729A>T (p.Glu1910Val)
c.4922A>T (p.Glu1641Val)
c.1223A>T (p.Glu408Val)
c.5309A>T (p.Glu1770Val)
c.4673A>T (p.Glu1558Val)
c.1463A>T (p.Glu488Val)
 dbSNP
5g.177280672A>CCA362312849NSD1c.4857A>C (p.Glu1619Asp)
c.372A>C (p.Glu124Asp)
n.5313A>C
n.479A>C
c.5421A>C (p.Glu1807Asp)
n.5127A>C
n.5877A>C
n.2649A>C
c.5730A>C (p.Glu1910Asp)
c.4923A>C (p.Glu1641Asp)
c.1224A>C (p.Glu408Asp)
c.5310A>C (p.Glu1770Asp)
c.4674A>C (p.Glu1558Asp)
c.1464A>C (p.Glu488Asp)
5g.177280672A>GCA447961438NSD1c.4857A>G (p.Glu1619=)
c.372A>G (p.Glu124=)
n.5313A>G
n.479A>G
c.5421A>G (p.Glu1807=)
n.5127A>G
n.5877A>G
n.2649A>G
c.5730A>G (p.Glu1910=)
c.4923A>G (p.Glu1641=)
c.1224A>G (p.Glu408=)
c.5310A>G (p.Glu1770=)
c.4674A>G (p.Glu1558=)
c.1464A>G (p.Glu488=)
5g.177280672A>TCA362312852NSD1c.4857A>T (p.Glu1619Asp)
c.372A>T (p.Glu124Asp)
n.5313A>T
n.479A>T
c.5421A>T (p.Glu1807Asp)
n.5127A>T
n.5877A>T
n.2649A>T
c.5730A>T (p.Glu1910Asp)
c.4923A>T (p.Glu1641Asp)
c.1224A>T (p.Glu408Asp)
c.5310A>T (p.Glu1770Asp)
c.4674A>T (p.Glu1558Asp)
c.1464A>T (p.Glu488Asp)
5g.177280673T>ACA362312858NSD1c.4858T>A (p.Cys1620Ser)
c.373T>A (p.Cys125Ser)
n.5314T>A
n.480T>A
c.5422T>A (p.Cys1808Ser)
n.5128T>A
n.5878T>A
n.2650T>A
c.5731T>A (p.Cys1911Ser)
c.4924T>A (p.Cys1642Ser)
c.1225T>A (p.Cys409Ser)
c.5311T>A (p.Cys1771Ser)
c.4675T>A (p.Cys1559Ser)
c.1465T>A (p.Cys489Ser)
5g.177280673T>CCA362312860NSD1c.4858T>C (p.Cys1620Arg)
c.373T>C (p.Cys125Arg)
n.5314T>C
n.480T>C
c.5422T>C (p.Cys1808Arg)
n.5128T>C
n.5878T>C
n.2650T>C
c.5731T>C (p.Cys1911Arg)
c.4924T>C (p.Cys1642Arg)
c.1225T>C (p.Cys409Arg)
c.5311T>C (p.Cys1771Arg)
c.4675T>C (p.Cys1559Arg)
c.1465T>C (p.Cys489Arg)
5g.177280673T>GCA362312864NSD1c.4858T>G (p.Cys1620Gly)
c.373T>G (p.Cys125Gly)
n.5314T>G
n.480T>G
c.5422T>G (p.Cys1808Gly)
n.5128T>G
n.5878T>G
n.2650T>G
c.5731T>G (p.Cys1911Gly)
c.4924T>G (p.Cys1642Gly)
c.1225T>G (p.Cys409Gly)
c.5311T>G (p.Cys1771Gly)
c.4675T>G (p.Cys1559Gly)
c.1465T>G (p.Cys489Gly)
5g.177280674G>ACA362312870NSD1c.4859G>A (p.Cys1620Tyr)
c.374G>A (p.Cys125Tyr)
n.5315G>A
n.481G>A
c.5423G>A (p.Cys1808Tyr)
n.5129G>A
n.5879G>A
n.2651G>A
c.5732G>A (p.Cys1911Tyr)
c.4925G>A (p.Cys1642Tyr)
c.1226G>A (p.Cys409Tyr)
c.5312G>A (p.Cys1771Tyr)
c.4676G>A (p.Cys1559Tyr)
c.1466G>A (p.Cys489Tyr)
 dbSNP
5g.177280674G>CCA362312873NSD1c.4859G>C (p.Cys1620Ser)
c.374G>C (p.Cys125Ser)
n.5315G>C
n.481G>C
c.5423G>C (p.Cys1808Ser)
n.5129G>C
n.5879G>C
n.2651G>C
c.5732G>C (p.Cys1911Ser)
c.4925G>C (p.Cys1642Ser)
c.1226G>C (p.Cys409Ser)
c.5312G>C (p.Cys1771Ser)
c.4676G>C (p.Cys1559Ser)
c.1466G>C (p.Cys489Ser)
5g.177280674G>TCA362312878NSD1c.4859G>T (p.Cys1620Phe)
c.374G>T (p.Cys125Phe)
n.5315G>T
n.481G>T
c.5423G>T (p.Cys1808Phe)
n.5129G>T
n.5879G>T
n.2651G>T
c.5732G>T (p.Cys1911Phe)
c.4925G>T (p.Cys1642Phe)
c.1226G>T (p.Cys409Phe)
c.5312G>T (p.Cys1771Phe)
c.4676G>T (p.Cys1559Phe)
c.1466G>T (p.Cys489Phe)
 COSMIC COSMIC
5g.177280675C>ACA362312884NSD1c.4860C>A (p.Cys1620Ter)
c.375C>A (p.Cys125Ter)
n.5316C>A
n.482C>A
c.5424C>A (p.Cys1808Ter)
n.5130C>A
n.5880C>A
n.2652C>A
c.5733C>A (p.Cys1911Ter)
c.4926C>A (p.Cys1642Ter)
c.1227C>A (p.Cys409Ter)
c.5313C>A (p.Cys1771Ter)
c.4677C>A (p.Cys1559Ter)
c.1467C>A (p.Cys489Ter)
 dbSNP
5g.177280675C=CA1603550380NSD1c.4860C= (p.Cys1620=)
c.375C= (p.Cys125=)
n.5316C=
n.482C=
c.5424C= (p.Cys1808=)
n.5130C=
n.5880C=
n.2652C=
c.5733C= (p.Cys1911=)
c.4926C= (p.Cys1642=)
c.1227C= (p.Cys409=)
c.5313C= (p.Cys1771=)
c.4677C= (p.Cys1559=)
c.1467C= (p.Cys489=)
5g.177280675C>GCA362312886NSD1c.4860C>G (p.Cys1620Trp)
c.375C>G (p.Cys125Trp)
n.5316C>G
n.482C>G
c.5424C>G (p.Cys1808Trp)
n.5130C>G
n.5880C>G
n.2652C>G
c.5733C>G (p.Cys1911Trp)
c.4926C>G (p.Cys1642Trp)
c.1227C>G (p.Cys409Trp)
c.5313C>G (p.Cys1771Trp)
c.4677C>G (p.Cys1559Trp)
c.1467C>G (p.Cys489Trp)
5g.177280675C>TCA447961446NSD1c.4860C>T (p.Cys1620=)
c.375C>T (p.Cys125=)
n.5316C>T
n.482C>T
c.5424C>T (p.Cys1808=)
n.5130C>T
n.5880C>T
n.2652C>T
c.5733C>T (p.Cys1911=)
c.4926C>T (p.Cys1642=)
c.1227C>T (p.Cys409=)
c.5313C>T (p.Cys1771=)
c.4677C>T (p.Cys1559=)
c.1467C>T (p.Cys489=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.177280676A>CCA362312890NSD1c.4861A>C (p.Ile1621Leu)
c.376A>C (p.Ile126Leu)
n.5317A>C
n.483A>C
c.5425A>C (p.Ile1809Leu)
n.5131A>C
n.5881A>C
n.2653A>C
c.5734A>C (p.Ile1912Leu)
c.4927A>C (p.Ile1643Leu)
c.1228A>C (p.Ile410Leu)
c.5314A>C (p.Ile1772Leu)
c.4678A>C (p.Ile1560Leu)
c.1468A>C (p.Ile490Leu)
5g.177280676A>GCA362312894NSD1c.4861A>G (p.Ile1621Val)
c.376A>G (p.Ile126Val)
n.5317A>G
n.483A>G
c.5425A>G (p.Ile1809Val)
n.5131A>G
n.5881A>G
n.2653A>G
c.5734A>G (p.Ile1912Val)
c.4927A>G (p.Ile1643Val)
c.1228A>G (p.Ile410Val)
c.5314A>G (p.Ile1772Val)
c.4678A>G (p.Ile1560Val)
c.1468A>G (p.Ile490Val)
 gnomAD v4
5g.177280676A>TCA362312897NSD1c.4861A>T (p.Ile1621Phe)
c.376A>T (p.Ile126Phe)
n.5317A>T
n.483A>T
c.5425A>T (p.Ile1809Phe)
n.5131A>T
n.5881A>T
n.2653A>T
c.5734A>T (p.Ile1912Phe)
c.4927A>T (p.Ile1643Phe)
c.1228A>T (p.Ile410Phe)
c.5314A>T (p.Ile1772Phe)
c.4678A>T (p.Ile1560Phe)
c.1468A>T (p.Ile490Phe)
5g.177280677T>ACA362312902NSD1c.4862T>A (p.Ile1621Asn)
c.377T>A (p.Ile126Asn)
n.5318T>A
n.484T>A
c.5426T>A (p.Ile1809Asn)
n.5132T>A
n.5882T>A
n.2654T>A
c.5735T>A (p.Ile1912Asn)
c.4928T>A (p.Ile1643Asn)
c.1229T>A (p.Ile410Asn)
c.5315T>A (p.Ile1772Asn)
c.4679T>A (p.Ile1560Asn)
c.1469T>A (p.Ile490Asn)
5g.177280677T>CCA362312911NSD1c.4862T>C (p.Ile1621Thr)
c.377T>C (p.Ile126Thr)
n.5318T>C
n.484T>C
c.5426T>C (p.Ile1809Thr)
n.5132T>C
n.5882T>C
n.2654T>C
c.5735T>C (p.Ile1912Thr)
c.4928T>C (p.Ile1643Thr)
c.1229T>C (p.Ile410Thr)
c.5315T>C (p.Ile1772Thr)
c.4679T>C (p.Ile1560Thr)
c.1469T>C (p.Ile490Thr)
5g.177280677T>GCA362312905NSD1c.4862T>G (p.Ile1621Ser)
c.377T>G (p.Ile126Ser)
n.5318T>G
n.484T>G
c.5426T>G (p.Ile1809Ser)
n.5132T>G
n.5882T>G
n.2654T>G
c.5735T>G (p.Ile1912Ser)
c.4928T>G (p.Ile1643Ser)
c.1229T>G (p.Ile410Ser)
c.5315T>G (p.Ile1772Ser)
c.4679T>G (p.Ile1560Ser)
c.1469T>G (p.Ile490Ser)
5g.177280678C>ACA447961453NSD1c.4863C>A (p.Ile1621=)
c.378C>A (p.Ile126=)
n.5319C>A
n.485C>A
c.5427C>A (p.Ile1809=)
n.5133C>A
n.5883C>A
n.2655C>A
c.5736C>A (p.Ile1912=)
c.4929C>A (p.Ile1643=)
c.1230C>A (p.Ile410=)
c.5316C>A (p.Ile1772=)
c.4680C>A (p.Ile1560=)
c.1470C>A (p.Ile490=)
5g.177280678C=CA1603550385NSD1c.4863C= (p.Ile1621=)
c.378C= (p.Ile126=)
n.5319C=
n.485C=
c.5427C= (p.Ile1809=)
n.5133C=
n.5883C=
n.2655C=
c.5736C= (p.Ile1912=)
c.4929C= (p.Ile1643=)
c.1230C= (p.Ile410=)
c.5316C= (p.Ile1772=)
c.4680C= (p.Ile1560=)
c.1470C= (p.Ile490=)
5g.177280678C>GCA362312915NSD1c.4863C>G (p.Ile1621Met)
c.378C>G (p.Ile126Met)
n.5319C>G
n.485C>G
c.5427C>G (p.Ile1809Met)
n.5133C>G
n.5883C>G
n.2655C>G
c.5736C>G (p.Ile1912Met)
c.4929C>G (p.Ile1643Met)
c.1230C>G (p.Ile410Met)
c.5316C>G (p.Ile1772Met)
c.4680C>G (p.Ile1560Met)
c.1470C>G (p.Ile490Met)
 ClinVar dbSNP
5g.177280678C>TCA447961455NSD1c.4863C>T (p.Ile1621=)
c.378C>T (p.Ile126=)
n.5319C>T
n.485C>T
c.5427C>T (p.Ile1809=)
n.5133C>T
n.5883C>T
n.2655C>T
c.5736C>T (p.Ile1912=)
c.4929C>T (p.Ile1643=)
c.1230C>T (p.Ile410=)
c.5316C>T (p.Ile1772=)
c.4680C>T (p.Ile1560=)
c.1470C>T (p.Ile490=)
 dbSNP
5g.177280679A>CCA362312921NSD1c.4864A>C (p.Asn1622His)
c.379A>C (p.Asn127His)
n.5320A>C
n.486A>C
c.5428A>C (p.Asn1810His)
n.5134A>C
n.5884A>C
n.2656A>C
c.5737A>C (p.Asn1913His)
c.4930A>C (p.Asn1644His)
c.1231A>C (p.Asn411His)
c.5317A>C (p.Asn1773His)
c.4681A>C (p.Asn1561His)
c.1471A>C (p.Asn491His)
5g.177280679A>GCA362312925NSD1c.4864A>G (p.Asn1622Asp)
c.379A>G (p.Asn127Asp)
n.5320A>G
n.486A>G
c.5428A>G (p.Asn1810Asp)
n.5134A>G
n.5884A>G
n.2656A>G
c.5737A>G (p.Asn1913Asp)
c.4930A>G (p.Asn1644Asp)
c.1231A>G (p.Asn411Asp)
c.5317A>G (p.Asn1773Asp)
c.4681A>G (p.Asn1561Asp)
c.1471A>G (p.Asn491Asp)
5g.177280679A>TCA362312929NSD1c.4864A>T (p.Asn1622Tyr)
c.379A>T (p.Asn127Tyr)
n.5320A>T
n.486A>T
c.5428A>T (p.Asn1810Tyr)
n.5134A>T
n.5884A>T
n.2656A>T
c.5737A>T (p.Asn1913Tyr)
c.4930A>T (p.Asn1644Tyr)
c.1231A>T (p.Asn411Tyr)
c.5317A>T (p.Asn1773Tyr)
c.4681A>T (p.Asn1561Tyr)
c.1471A>T (p.Asn491Tyr)
5g.177280680delCA2695205712NSD1c.4865del (p.Asn1622ThrfsTer?)
c.380del (p.Asn127ThrfsTer?)
n.5321del
n.487del
c.5429del (p.Asn1810ThrfsTer?)
n.5135del
n.5885del
n.2657del
c.5738del (p.Asn1913ThrfsTer?)
c.4931del (p.Asn1644ThrfsTer?)
c.1232del (p.Asn411ThrfsTer?)
c.5318del (p.Asn1773ThrfsTer?)
c.4682del (p.Asn1561ThrfsTer?)
c.1472del (p.Asn491ThrfsTer?)
5g.177280680A>CCA362312934NSD1c.4865A>C (p.Asn1622Thr)
c.380A>C (p.Asn127Thr)
n.5321A>C
n.487A>C
c.5429A>C (p.Asn1810Thr)
n.5135A>C
n.5885A>C
n.2657A>C
c.5738A>C (p.Asn1913Thr)
c.4931A>C (p.Asn1644Thr)
c.1232A>C (p.Asn411Thr)
c.5318A>C (p.Asn1773Thr)
c.4682A>C (p.Asn1561Thr)
c.1472A>C (p.Asn491Thr)
5g.177280680A>GCA362312937NSD1c.4865A>G (p.Asn1622Ser)
c.380A>G (p.Asn127Ser)
n.5321A>G
n.487A>G
c.5429A>G (p.Asn1810Ser)
n.5135A>G
n.5885A>G
n.2657A>G
c.5738A>G (p.Asn1913Ser)
c.4931A>G (p.Asn1644Ser)
c.1232A>G (p.Asn411Ser)
c.5318A>G (p.Asn1773Ser)
c.4682A>G (p.Asn1561Ser)
c.1472A>G (p.Asn491Ser)
 ClinVar dbSNP
5g.177280680A>TCA362312941NSD1c.4865A>T (p.Asn1622Ile)
c.380A>T (p.Asn127Ile)
n.5321A>T
n.487A>T
c.5429A>T (p.Asn1810Ile)
n.5135A>T
n.5885A>T
n.2657A>T
c.5738A>T (p.Asn1913Ile)
c.4931A>T (p.Asn1644Ile)
c.1232A>T (p.Asn411Ile)
c.5318A>T (p.Asn1773Ile)
c.4682A>T (p.Asn1561Ile)
c.1472A>T (p.Asn491Ile)
 ClinVar dbSNP
5g.177280681C>ACA362312947NSD1c.4866C>A (p.Asn1622Lys)
c.381C>A (p.Asn127Lys)
n.5322C>A
n.488C>A
c.5430C>A (p.Asn1810Lys)
n.5136C>A
n.5886C>A
n.2658C>A
c.5739C>A (p.Asn1913Lys)
c.4932C>A (p.Asn1644Lys)
c.1233C>A (p.Asn411Lys)
c.5319C>A (p.Asn1773Lys)
c.4683C>A (p.Asn1561Lys)
c.1473C>A (p.Asn491Lys)
5g.177280681C>GCA362312951NSD1c.4866C>G (p.Asn1622Lys)
c.381C>G (p.Asn127Lys)
n.5322C>G
n.488C>G
c.5430C>G (p.Asn1810Lys)
n.5136C>G
n.5886C>G
n.2658C>G
c.5739C>G (p.Asn1913Lys)
c.4932C>G (p.Asn1644Lys)
c.1233C>G (p.Asn411Lys)
c.5319C>G (p.Asn1773Lys)
c.4683C>G (p.Asn1561Lys)
c.1473C>G (p.Asn491Lys)
5g.177280681C>TCA447961466NSD1c.4866C>T (p.Asn1622=)
c.381C>T (p.Asn127=)
n.5322C>T
n.488C>T
c.5430C>T (p.Asn1810=)
n.5136C>T
n.5886C>T
n.2658C>T
c.5739C>T (p.Asn1913=)
c.4932C>T (p.Asn1644=)
c.1233C>T (p.Asn411=)
c.5319C>T (p.Asn1773=)
c.4683C>T (p.Asn1561=)
c.1473C>T (p.Asn491=)
 gnomAD v4
5g.177280682C>ACA362312971NSD1c.4867C>A (p.Arg1623Ser)
c.382C>A (p.Arg128Ser)
n.5323C>A
n.489C>A
c.5431C>A (p.Arg1811Ser)
n.5137C>A
n.5887C>A
n.2659C>A
c.5740C>A (p.Arg1914Ser)
c.4933C>A (p.Arg1645Ser)
c.1234C>A (p.Arg412Ser)
c.5320C>A (p.Arg1774Ser)
c.4684C>A (p.Arg1562Ser)
c.1474C>A (p.Arg492Ser)
5g.177280682C=CA1603550392NSD1c.4867C= (p.Arg1623=)
c.382C= (p.Arg128=)
n.5323C=
n.489C=
c.5431C= (p.Arg1811=)
n.5137C=
n.5887C=
n.2659C=
c.5740C= (p.Arg1914=)
c.4933C= (p.Arg1645=)
c.1234C= (p.Arg412=)
c.5320C= (p.Arg1774=)
c.4684C= (p.Arg1562=)
c.1474C= (p.Arg492=)
5g.177280682C>GCA362312968NSD1c.4867C>G (p.Arg1623Gly)
c.382C>G (p.Arg128Gly)
n.5323C>G
n.489C>G
c.5431C>G (p.Arg1811Gly)
n.5137C>G
n.5887C>G
n.2659C>G
c.5740C>G (p.Arg1914Gly)
c.4933C>G (p.Arg1645Gly)
c.1234C>G (p.Arg412Gly)
c.5320C>G (p.Arg1774Gly)
c.4684C>G (p.Arg1562Gly)
c.1474C>G (p.Arg492Gly)
5g.177280682C>TCA294974NSD1c.4867C>T (p.Arg1623Cys)
c.382C>T (p.Arg128Cys)
n.5323C>T
n.489C>T
c.5431C>T (p.Arg1811Cys)
n.5137C>T
n.5887C>T
n.2659C>T
c.5740C>T (p.Arg1914Cys)
c.4933C>T (p.Arg1645Cys)
c.1234C>T (p.Arg412Cys)
c.5320C>T (p.Arg1774Cys)
c.4684C>T (p.Arg1562Cys)
c.1474C>T (p.Arg492Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
5g.177280683G>ACA362312978NSD1c.4868G>A (p.Arg1623His)
c.383G>A (p.Arg128His)
n.5324G>A
n.490G>A
c.5432G>A (p.Arg1811His)
n.5138G>A
n.5888G>A
n.2660G>A
c.5741G>A (p.Arg1914His)
c.4934G>A (p.Arg1645His)
c.1235G>A (p.Arg412His)
c.5321G>A (p.Arg1774His)
c.4685G>A (p.Arg1562His)
c.1475G>A (p.Arg492His)
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC
5g.177280683G>CCA294977NSD1c.4868G>C (p.Arg1623Pro)
c.383G>C (p.Arg128Pro)
n.5324G>C
n.490G>C
c.5432G>C (p.Arg1811Pro)
n.5138G>C
n.5888G>C
n.2660G>C
c.5741G>C (p.Arg1914Pro)
c.4934G>C (p.Arg1645Pro)
c.1235G>C (p.Arg412Pro)
c.5321G>C (p.Arg1774Pro)
c.4685G>C (p.Arg1562Pro)
c.1475G>C (p.Arg492Pro)
 ClinVar dbSNP
5g.177280683G=CA1603550401NSD1c.4868G= (p.Arg1623=)
c.383G= (p.Arg128=)
n.5324G=
n.490G=
c.5432G= (p.Arg1811=)
n.5138G=
n.5888G=
n.2660G=
c.5741G= (p.Arg1914=)
c.4934G= (p.Arg1645=)
c.1235G= (p.Arg412=)
c.5321G= (p.Arg1774=)
c.4685G= (p.Arg1562=)
c.1475G= (p.Arg492=)
5g.177280683G>TCA362312982NSD1c.4868G>T (p.Arg1623Leu)
c.383G>T (p.Arg128Leu)
n.5324G>T
n.490G>T
c.5432G>T (p.Arg1811Leu)
n.5138G>T
n.5888G>T
n.2660G>T
c.5741G>T (p.Arg1914Leu)
c.4934G>T (p.Arg1645Leu)
c.1235G>T (p.Arg412Leu)
c.5321G>T (p.Arg1774Leu)
c.4685G>T (p.Arg1562Leu)
c.1475G>T (p.Arg492Leu)
 ClinVar dbSNP
5g.177280684C>ACA447961476NSD1c.4869C>A (p.Arg1623=)
c.384C>A (p.Arg128=)
n.5325C>A
n.491C>A
c.5433C>A (p.Arg1811=)
n.5139C>A
n.5889C>A
n.2661C>A
c.5742C>A (p.Arg1914=)
c.4935C>A (p.Arg1645=)
c.1236C>A (p.Arg412=)
c.5322C>A (p.Arg1774=)
c.4686C>A (p.Arg1562=)
c.1476C>A (p.Arg492=)
5g.177280684C>GCA447961473NSD1c.4869C>G (p.Arg1623=)
c.384C>G (p.Arg128=)
n.5325C>G
n.491C>G
c.5433C>G (p.Arg1811=)
n.5139C>G
n.5889C>G
n.2661C>G
c.5742C>G (p.Arg1914=)
c.4935C>G (p.Arg1645=)
c.1236C>G (p.Arg412=)
c.5322C>G (p.Arg1774=)
c.4686C>G (p.Arg1562=)
c.1476C>G (p.Arg492=)
5g.177280684C>TCA447961475NSD1c.4869C>T (p.Arg1623=)
c.384C>T (p.Arg128=)
n.5325C>T
n.491C>T
c.5433C>T (p.Arg1811=)
n.5139C>T
n.5889C>T
n.2661C>T
c.5742C>T (p.Arg1914=)
c.4935C>T (p.Arg1645=)
c.1236C>T (p.Arg412=)
c.5322C>T (p.Arg1774=)
c.4686C>T (p.Arg1562=)
c.1476C>T (p.Arg492=)
5g.177280685A>CCA362312987NSD1c.4870A>C (p.Met1624Leu)
c.385A>C (p.Met129Leu)
n.5326A>C
n.492A>C
c.5434A>C (p.Met1812Leu)
n.5140A>C
n.5890A>C
n.2662A>C
c.5743A>C (p.Met1915Leu)
c.4936A>C (p.Met1646Leu)
c.1237A>C (p.Met413Leu)
c.5323A>C (p.Met1775Leu)
c.4687A>C (p.Met1563Leu)
c.1477A>C (p.Met493Leu)
5g.177280685A>GCA362312990NSD1c.4870A>G (p.Met1624Val)
c.385A>G (p.Met129Val)
n.5326A>G
n.492A>G
c.5434A>G (p.Met1812Val)
n.5140A>G
n.5890A>G
n.2662A>G
c.5743A>G (p.Met1915Val)
c.4936A>G (p.Met1646Val)
c.1237A>G (p.Met413Val)
c.5323A>G (p.Met1775Val)
c.4687A>G (p.Met1563Val)
c.1477A>G (p.Met493Val)
5g.177280685A>TCA362312993NSD1c.4870A>T (p.Met1624Leu)
c.385A>T (p.Met129Leu)
n.5326A>T
n.492A>T
c.5434A>T (p.Met1812Leu)
n.5140A>T
n.5890A>T
n.2662A>T
c.5743A>T (p.Met1915Leu)
c.4936A>T (p.Met1646Leu)
c.1237A>T (p.Met413Leu)
c.5323A>T (p.Met1775Leu)
c.4687A>T (p.Met1563Leu)
c.1477A>T (p.Met493Leu)
5g.177280686T>ACA362313004NSD1c.4871T>A (p.Met1624Lys)
c.386T>A (p.Met129Lys)
n.5327T>A
n.493T>A
c.5435T>A (p.Met1812Lys)
n.5141T>A
n.5891T>A
n.2663T>A
c.5744T>A (p.Met1915Lys)
c.4937T>A (p.Met1646Lys)
c.1238T>A (p.Met413Lys)
c.5324T>A (p.Met1775Lys)
c.4688T>A (p.Met1563Lys)
c.1478T>A (p.Met493Lys)
5g.177280686T>CCA362312997NSD1c.4871T>C (p.Met1624Thr)
c.386T>C (p.Met129Thr)
n.5327T>C
n.493T>C
c.5435T>C (p.Met1812Thr)
n.5141T>C
n.5891T>C
n.2663T>C
c.5744T>C (p.Met1915Thr)
c.4937T>C (p.Met1646Thr)
c.1238T>C (p.Met413Thr)
c.5324T>C (p.Met1775Thr)
c.4688T>C (p.Met1563Thr)
c.1478T>C (p.Met493Thr)
5g.177280686T>GCA362313000NSD1c.4871T>G (p.Met1624Arg)
c.386T>G (p.Met129Arg)
n.5327T>G
n.493T>G
c.5435T>G (p.Met1812Arg)
n.5141T>G
n.5891T>G
n.2663T>G
c.5744T>G (p.Met1915Arg)
c.4937T>G (p.Met1646Arg)
c.1238T>G (p.Met413Arg)
c.5324T>G (p.Met1775Arg)
c.4688T>G (p.Met1563Arg)
c.1478T>G (p.Met493Arg)
5g.177280686dupCA658820945NSD1c.4871dup (p.Met1624IlefsTer5)
c.386dup (p.Met129IlefsTer5)
n.5327dup
n.493dup
c.5435dup (p.Met1812IlefsTer5)
n.5141dup
n.5891dup
n.2663dup
c.5744dup (p.Met1915IlefsTer5)
c.4937dup (p.Met1646IlefsTer5)
c.1238dup (p.Met413IlefsTer5)
c.5324dup (p.Met1775IlefsTer5)
c.4688dup (p.Met1563IlefsTer5)
c.1478dup (p.Met493IlefsTer5)
5g.177280687G>ACA362313009NSD1c.4872G>A (p.Met1624Ile)
c.387G>A (p.Met129Ile)
n.5328G>A
n.494G>A
c.5436G>A (p.Met1812Ile)
n.5142G>A
n.5892G>A
n.2664G>A
c.5745G>A (p.Met1915Ile)
c.4938G>A (p.Met1646Ile)
c.1239G>A (p.Met413Ile)
c.5325G>A (p.Met1775Ile)
c.4689G>A (p.Met1563Ile)
c.1479G>A (p.Met493Ile)
 dbSNP
5g.177280687G>CCA362313011NSD1c.4872G>C (p.Met1624Ile)
c.387G>C (p.Met129Ile)
n.5328G>C
n.494G>C
c.5436G>C (p.Met1812Ile)
n.5142G>C
n.5892G>C
n.2664G>C
c.5745G>C (p.Met1915Ile)
c.4938G>C (p.Met1646Ile)
c.1239G>C (p.Met413Ile)
c.5325G>C (p.Met1775Ile)
c.4689G>C (p.Met1563Ile)
c.1479G>C (p.Met493Ile)
5g.177280687G>TCA362313014NSD1c.4872G>T (p.Met1624Ile)
c.387G>T (p.Met129Ile)
n.5328G>T
n.494G>T
c.5436G>T (p.Met1812Ile)
n.5142G>T
n.5892G>T
n.2664G>T
c.5745G>T (p.Met1915Ile)
c.4938G>T (p.Met1646Ile)
c.1239G>T (p.Met413Ile)
c.5325G>T (p.Met1775Ile)
c.4689G>T (p.Met1563Ile)
c.1479G>T (p.Met493Ile)
5g.177280688C>ACA362313023NSD1c.4873C>A (p.Leu1625Met)
c.388C>A (p.Leu130Met)
n.5329C>A
n.495C>A
c.5437C>A (p.Leu1813Met)
n.5143C>A
n.5893C>A
n.2665C>A
c.5746C>A (p.Leu1916Met)
c.4939C>A (p.Leu1647Met)
c.1240C>A (p.Leu414Met)
c.5326C>A (p.Leu1776Met)
c.4690C>A (p.Leu1564Met)
c.1480C>A (p.Leu494Met)
 dbSNP
5g.177280688C>GCA362313026NSD1c.4873C>G (p.Leu1625Val)
c.388C>G (p.Leu130Val)
n.5329C>G
n.495C>G
c.5437C>G (p.Leu1813Val)
n.5143C>G
n.5893C>G
n.2665C>G
c.5746C>G (p.Leu1916Val)
c.4939C>G (p.Leu1647Val)
c.1240C>G (p.Leu414Val)
c.5326C>G (p.Leu1776Val)
c.4690C>G (p.Leu1564Val)
c.1480C>G (p.Leu494Val)
5g.177280688C>TCA447961275NSD1c.4873C>T (p.Leu1625=)
c.388C>T (p.Leu130=)
n.5329C>T
n.495C>T
c.5437C>T (p.Leu1813=)
n.5143C>T
n.5893C>T
n.2665C>T
c.5746C>T (p.Leu1916=)
c.4939C>T (p.Leu1647=)
c.1240C>T (p.Leu414=)
c.5326C>T (p.Leu1776=)
c.4690C>T (p.Leu1564=)
c.1480C>T (p.Leu494=)
 dbSNP
5g.177280689T>ACA362313031NSD1c.4874T>A (p.Leu1625Gln)
c.389T>A (p.Leu130Gln)
n.5330T>A
n.496T>A
c.5438T>A (p.Leu1813Gln)
n.5144T>A
n.5894T>A
n.2666T>A
c.5747T>A (p.Leu1916Gln)
c.4940T>A (p.Leu1647Gln)
c.1241T>A (p.Leu414Gln)
c.5327T>A (p.Leu1776Gln)
c.4691T>A (p.Leu1564Gln)
c.1481T>A (p.Leu494Gln)
5g.177280689T>CCA362313035NSD1c.4874T>C (p.Leu1625Pro)
c.389T>C (p.Leu130Pro)
n.5330T>C
n.496T>C
c.5438T>C (p.Leu1813Pro)
n.5144T>C
n.5894T>C
n.2666T>C
c.5747T>C (p.Leu1916Pro)
c.4940T>C (p.Leu1647Pro)
c.1241T>C (p.Leu414Pro)
c.5327T>C (p.Leu1776Pro)
c.4691T>C (p.Leu1564Pro)
c.1481T>C (p.Leu494Pro)
5g.177280689T>GCA362313033NSD1c.4874T>G (p.Leu1625Arg)
c.389T>G (p.Leu130Arg)
n.5330T>G
n.496T>G
c.5438T>G (p.Leu1813Arg)
n.5144T>G
n.5894T>G
n.2666T>G
c.5747T>G (p.Leu1916Arg)
c.4940T>G (p.Leu1647Arg)
c.1241T>G (p.Leu414Arg)
c.5327T>G (p.Leu1776Arg)
c.4691T>G (p.Leu1564Arg)
c.1481T>G (p.Leu494Arg)
5g.177280690G>ACA447961282NSD1c.4875G>A (p.Leu1625=)
c.390G>A (p.Leu130=)
n.5331G>A
n.497G>A
c.5439G>A (p.Leu1813=)
n.5145G>A
n.5895G>A
n.2667G>A
c.5748G>A (p.Leu1916=)
c.4941G>A (p.Leu1647=)
c.1242G>A (p.Leu414=)
c.5328G>A (p.Leu1776=)
c.4692G>A (p.Leu1564=)
c.1482G>A (p.Leu494=)
 dbSNP gnomAD v4
5g.177280690G>CCA447961280NSD1c.4875G>C (p.Leu1625=)
c.390G>C (p.Leu130=)
n.5331G>C
n.497G>C
c.5439G>C (p.Leu1813=)
n.5145G>C
n.5895G>C
n.2667G>C
c.5748G>C (p.Leu1916=)
c.4941G>C (p.Leu1647=)
c.1242G>C (p.Leu414=)
c.5328G>C (p.Leu1776=)
c.4692G>C (p.Leu1564=)
c.1482G>C (p.Leu494=)
5g.177280690G>TCA447961281NSD1c.4875G>T (p.Leu1625=)
c.390G>T (p.Leu130=)
n.5331G>T
n.497G>T
c.5439G>T (p.Leu1813=)
n.5145G>T
n.5895G>T
n.2667G>T
c.5748G>T (p.Leu1916=)
c.4941G>T (p.Leu1647=)
c.1242G>T (p.Leu414=)
c.5328G>T (p.Leu1776=)
c.4692G>T (p.Leu1564=)
c.1482G>T (p.Leu494=)
5g.177280691C>ACA362313039NSD1c.4876C>A (p.Leu1626Ile)
c.391C>A (p.Leu131Ile)
n.5332C>A
n.498C>A
c.5440C>A (p.Leu1814Ile)
n.5146C>A
n.5896C>A
n.2668C>A
c.5749C>A (p.Leu1917Ile)
c.4942C>A (p.Leu1648Ile)
c.1243C>A (p.Leu415Ile)
c.5329C>A (p.Leu1777Ile)
c.4693C>A (p.Leu1565Ile)
c.1483C>A (p.Leu495Ile)
5g.177280691C>GCA362313041NSD1c.4876C>G (p.Leu1626Val)
c.391C>G (p.Leu131Val)
n.5332C>G
n.498C>G
c.5440C>G (p.Leu1814Val)
n.5146C>G
n.5896C>G
n.2668C>G
c.5749C>G (p.Leu1917Val)
c.4942C>G (p.Leu1648Val)
c.1243C>G (p.Leu415Val)
c.5329C>G (p.Leu1777Val)
c.4693C>G (p.Leu1565Val)
c.1483C>G (p.Leu495Val)
5g.177280691C>TCA362313043NSD1c.4876C>T (p.Leu1626Phe)
c.391C>T (p.Leu131Phe)
n.5332C>T
n.498C>T
c.5440C>T (p.Leu1814Phe)
n.5146C>T
n.5896C>T
n.2668C>T
c.5749C>T (p.Leu1917Phe)
c.4942C>T (p.Leu1648Phe)
c.1243C>T (p.Leu415Phe)
c.5329C>T (p.Leu1777Phe)
c.4693C>T (p.Leu1565Phe)
c.1483C>T (p.Leu495Phe)
 gnomAD v4
5g.177280692T>ACA362313044NSD1c.4877T>A (p.Leu1626His)
c.392T>A (p.Leu131His)
n.5333T>A
n.499T>A
c.5441T>A (p.Leu1814His)
n.5147T>A
n.5897T>A
n.2669T>A
c.5750T>A (p.Leu1917His)
c.4943T>A (p.Leu1648His)
c.1244T>A (p.Leu415His)
c.5330T>A (p.Leu1777His)
c.4694T>A (p.Leu1565His)
c.1484T>A (p.Leu495His)
5g.177280692T>CCA362313046NSD1c.4877T>C (p.Leu1626Pro)
c.392T>C (p.Leu131Pro)
n.5333T>C
n.499T>C
c.5441T>C (p.Leu1814Pro)
n.5147T>C
n.5897T>C
n.2669T>C
c.5750T>C (p.Leu1917Pro)
c.4943T>C (p.Leu1648Pro)
c.1244T>C (p.Leu415Pro)
c.5330T>C (p.Leu1777Pro)
c.4694T>C (p.Leu1565Pro)
c.1484T>C (p.Leu495Pro)
5g.177280692T>GCA362313048NSD1c.4877T>G (p.Leu1626Arg)
c.392T>G (p.Leu131Arg)
n.5333T>G
n.499T>G
c.5441T>G (p.Leu1814Arg)
n.5147T>G
n.5897T>G
n.2669T>G
c.5750T>G (p.Leu1917Arg)
c.4943T>G (p.Leu1648Arg)
c.1244T>G (p.Leu415Arg)
c.5330T>G (p.Leu1777Arg)
c.4694T>G (p.Leu1565Arg)
c.1484T>G (p.Leu495Arg)
5g.177280693C>ACA447961288NSD1c.4878C>A (p.Leu1626=)
c.393C>A (p.Leu131=)
n.5334C>A
n.500C>A
c.5442C>A (p.Leu1814=)
n.5148C>A
n.5898C>A
n.2670C>A
c.5751C>A (p.Leu1917=)
c.4944C>A (p.Leu1648=)
c.1245C>A (p.Leu415=)
c.5331C>A (p.Leu1777=)
c.4695C>A (p.Leu1565=)
c.1485C>A (p.Leu495=)
5g.177280693C=CA1603550409NSD1c.4878C= (p.Leu1626=)
c.393C= (p.Leu131=)
n.5334C=
n.500C=
c.5442C= (p.Leu1814=)
n.5148C=
n.5898C=
n.2670C=
c.5751C= (p.Leu1917=)
c.4944C= (p.Leu1648=)
c.1245C= (p.Leu415=)
c.5331C= (p.Leu1777=)
c.4695C= (p.Leu1565=)
c.1485C= (p.Leu495=)
5g.177280693C>GCA3577891NSD1c.4878C>G (p.Leu1626=)
c.393C>G (p.Leu131=)
n.5334C>G
n.500C>G
c.5442C>G (p.Leu1814=)
n.5148C>G
n.5898C>G
n.2670C>G
c.5751C>G (p.Leu1917=)
c.4944C>G (p.Leu1648=)
c.1245C>G (p.Leu415=)
c.5331C>G (p.Leu1777=)
c.4695C>G (p.Leu1565=)
c.1485C>G (p.Leu495=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.177280693C>TCA447961290NSD1c.4878C>T (p.Leu1626=)
c.393C>T (p.Leu131=)
n.5334C>T
n.500C>T
c.5442C>T (p.Leu1814=)
n.5148C>T
n.5898C>T
n.2670C>T
c.5751C>T (p.Leu1917=)
c.4944C>T (p.Leu1648=)
c.1245C>T (p.Leu415=)
c.5331C>T (p.Leu1777=)
c.4695C>T (p.Leu1565=)
c.1485C>T (p.Leu495=)
5g.177280694T>ACA362313054NSD1c.4879T>A (p.Tyr1627Asn)
c.394T>A (p.Tyr132Asn)
n.5335T>A
n.501T>A
c.5443T>A (p.Tyr1815Asn)
n.5149T>A
n.5899T>A
n.2671T>A
c.5752T>A (p.Tyr1918Asn)
c.4945T>A (p.Tyr1649Asn)
c.1246T>A (p.Tyr416Asn)
c.5332T>A (p.Tyr1778Asn)
c.4696T>A (p.Tyr1566Asn)
c.1486T>A (p.Tyr496Asn)
5g.177280694T>CCA362313058NSD1c.4879T>C (p.Tyr1627His)
c.394T>C (p.Tyr132His)
n.5335T>C
n.501T>C
c.5443T>C (p.Tyr1815His)
n.5149T>C
n.5899T>C
n.2671T>C
c.5752T>C (p.Tyr1918His)
c.4945T>C (p.Tyr1649His)
c.1246T>C (p.Tyr416His)
c.5332T>C (p.Tyr1778His)
c.4696T>C (p.Tyr1566His)
c.1486T>C (p.Tyr496His)
5g.177280694T>GCA362313061NSD1c.4879T>G (p.Tyr1627Asp)
c.394T>G (p.Tyr132Asp)
n.5335T>G
n.501T>G
c.5443T>G (p.Tyr1815Asp)
n.5149T>G
n.5899T>G
n.2671T>G
c.5752T>G (p.Tyr1918Asp)
c.4945T>G (p.Tyr1649Asp)
c.1246T>G (p.Tyr416Asp)
c.5332T>G (p.Tyr1778Asp)
c.4696T>G (p.Tyr1566Asp)
c.1486T>G (p.Tyr496Asp)
5g.177280695_177280696delCA2499217785NSD1c.4880_4881del (p.Tyr1627Ter)
c.395_396del (p.Tyr132Ter)
n.5336_5337del
n.502_503del
c.5444_5445del (p.Tyr1815Ter)
n.5150_5151del
n.5900_5901del
n.2672_2673del
c.5753_5754del (p.Tyr1918Ter)
c.4946_4947del (p.Tyr1649Ter)
c.1247_1248del (p.Tyr416Ter)
c.5333_5334del (p.Tyr1778Ter)
c.4697_4698del (p.Tyr1566Ter)
c.1487_1488del (p.Tyr496Ter)
 ClinVar dbSNP
5g.177280695A>CCA362313070NSD1c.4880A>C (p.Tyr1627Ser)
c.395A>C (p.Tyr132Ser)
n.5336A>C
n.502A>C
c.5444A>C (p.Tyr1815Ser)
n.5150A>C
n.5900A>C
n.2672A>C
c.5753A>C (p.Tyr1918Ser)
c.4946A>C (p.Tyr1649Ser)
c.1247A>C (p.Tyr416Ser)
c.5333A>C (p.Tyr1778Ser)
c.4697A>C (p.Tyr1566Ser)
c.1487A>C (p.Tyr496Ser)
5g.177280695A>GCA362313067NSD1c.4880A>G (p.Tyr1627Cys)
c.395A>G (p.Tyr132Cys)
n.5336A>G
n.502A>G
c.5444A>G (p.Tyr1815Cys)
n.5150A>G
n.5900A>G
n.2672A>G
c.5753A>G (p.Tyr1918Cys)
c.4946A>G (p.Tyr1649Cys)
c.1247A>G (p.Tyr416Cys)
c.5333A>G (p.Tyr1778Cys)
c.4697A>G (p.Tyr1566Cys)
c.1487A>G (p.Tyr496Cys)
5g.177280695A>TCA362313065NSD1c.4880A>T (p.Tyr1627Phe)
c.395A>T (p.Tyr132Phe)
n.5336A>T
n.502A>T
c.5444A>T (p.Tyr1815Phe)
n.5150A>T
n.5900A>T
n.2672A>T
c.5753A>T (p.Tyr1918Phe)
c.4946A>T (p.Tyr1649Phe)
c.1247A>T (p.Tyr416Phe)
c.5333A>T (p.Tyr1778Phe)
c.4697A>T (p.Tyr1566Phe)
c.1487A>T (p.Tyr496Phe)
5g.177280696T>ACA362313073NSD1c.4881T>A (p.Tyr1627Ter)
c.396T>A (p.Tyr132Ter)
n.5337T>A
n.503T>A
c.5445T>A (p.Tyr1815Ter)
n.5151T>A
n.5901T>A
n.2673T>A
c.5754T>A (p.Tyr1918Ter)
c.4947T>A (p.Tyr1649Ter)
c.1248T>A (p.Tyr416Ter)
c.5334T>A (p.Tyr1778Ter)
c.4698T>A (p.Tyr1566Ter)
c.1488T>A (p.Tyr496Ter)
5g.177280696T>CCA447961295NSD1c.4881T>C (p.Tyr1627=)
c.396T>C (p.Tyr132=)
n.5337T>C
n.503T>C
c.5445T>C (p.Tyr1815=)
n.5151T>C
n.5901T>C
n.2673T>C
c.5754T>C (p.Tyr1918=)
c.4947T>C (p.Tyr1649=)
c.1248T>C (p.Tyr416=)
c.5334T>C (p.Tyr1778=)
c.4698T>C (p.Tyr1566=)
c.1488T>C (p.Tyr496=)
 gnomAD v4
5g.177280696T>GCA362313076NSD1c.4881T>G (p.Tyr1627Ter)
c.396T>G (p.Tyr132Ter)
n.5337T>G
n.503T>G
c.5445T>G (p.Tyr1815Ter)
n.5151T>G
n.5901T>G
n.2673T>G
c.5754T>G (p.Tyr1918Ter)
c.4947T>G (p.Tyr1649Ter)
c.1248T>G (p.Tyr416Ter)
c.5334T>G (p.Tyr1778Ter)
c.4698T>G (p.Tyr1566Ter)
c.1488T>G (p.Tyr496Ter)
5g.177280697G>ACA362313080NSD1c.4882G>A (p.Glu1628Lys)
c.397G>A (p.Glu133Lys)
n.5338G>A
n.504G>A
c.5446G>A (p.Glu1816Lys)
n.5152G>A
n.5902G>A
n.2674G>A
c.5755G>A (p.Glu1919Lys)
c.4948G>A (p.Glu1650Lys)
c.1249G>A (p.Glu417Lys)
c.5335G>A (p.Glu1779Lys)
c.4699G>A (p.Glu1567Lys)
c.1489G>A (p.Glu497Lys)
5g.177280697G>CCA362313082NSD1c.4882G>C (p.Glu1628Gln)
c.397G>C (p.Glu133Gln)
n.5338G>C
n.504G>C
c.5446G>C (p.Glu1816Gln)
n.5152G>C
n.5902G>C
n.2674G>C
c.5755G>C (p.Glu1919Gln)
c.4948G>C (p.Glu1650Gln)
c.1249G>C (p.Glu417Gln)
c.5335G>C (p.Glu1779Gln)
c.4699G>C (p.Glu1567Gln)
c.1489G>C (p.Glu497Gln)
 dbSNP
5g.177280697G>TCA362313085NSD1c.4882G>T (p.Glu1628Ter)
c.397G>T (p.Glu133Ter)
n.5338G>T
n.504G>T
c.5446G>T (p.Glu1816Ter)
n.5152G>T
n.5902G>T
n.2674G>T
c.5755G>T (p.Glu1919Ter)
c.4948G>T (p.Glu1650Ter)
c.1249G>T (p.Glu417Ter)
c.5335G>T (p.Glu1779Ter)
c.4699G>T (p.Glu1567Ter)
c.1489G>T (p.Glu497Ter)
5g.177280697_177280705delCA2711004146NSD1c.4882_4890del (p.Glu1628_His1630del)
c.397_405del (p.Glu133_His135del)
n.5338_5346del
n.504_512del
c.5446_5454del (p.Glu1816_His1818del)
n.5152_5160del
n.5902_5910del
n.2674_2682del
c.5755_5763del (p.Glu1919_His1921del)
c.4948_4956del (p.Glu1650_His1652del)
c.1249_1257del (p.Glu417_His419del)
c.5335_5343del (p.Glu1779_His1781del)
c.4699_4707del (p.Glu1567_His1569del)
c.1489_1497del (p.Glu497_His499del)
 dbSNP
5g.177280698A>CCA362313093NSD1c.4883A>C (p.Glu1628Ala)
c.398A>C (p.Glu133Ala)
n.5339A>C
n.505A>C
c.5447A>C (p.Glu1816Ala)
n.5153A>C
n.5903A>C
n.2675A>C
c.5756A>C (p.Glu1919Ala)
c.4949A>C (p.Glu1650Ala)
c.1250A>C (p.Glu417Ala)
c.5336A>C (p.Glu1779Ala)
c.4700A>C (p.Glu1567Ala)
c.1490A>C (p.Glu497Ala)
5g.177280698A>GCA362313091NSD1c.4883A>G (p.Glu1628Gly)
c.398A>G (p.Glu133Gly)
n.5339A>G
n.505A>G
c.5447A>G (p.Glu1816Gly)
n.5153A>G
n.5903A>G
n.2675A>G
c.5756A>G (p.Glu1919Gly)
c.4949A>G (p.Glu1650Gly)
c.1250A>G (p.Glu417Gly)
c.5336A>G (p.Glu1779Gly)
c.4700A>G (p.Glu1567Gly)
c.1490A>G (p.Glu497Gly)
 gnomAD v4
5g.177280698A>TCA362313088NSD1c.4883A>T (p.Glu1628Val)
c.398A>T (p.Glu133Val)
n.5339A>T
n.505A>T
c.5447A>T (p.Glu1816Val)
n.5153A>T
n.5903A>T
n.2675A>T
c.5756A>T (p.Glu1919Val)
c.4949A>T (p.Glu1650Val)
c.1250A>T (p.Glu417Val)
c.5336A>T (p.Glu1779Val)
c.4700A>T (p.Glu1567Val)
c.1490A>T (p.Glu497Val)
5g.177280699G>ACA132847245NSD1c.4884G>A (p.Glu1628=)
c.399G>A (p.Glu133=)
n.5340G>A
n.506G>A
c.5448G>A (p.Glu1816=)
n.5154G>A
n.5904G>A
n.2676G>A
c.5757G>A (p.Glu1919=)
c.4950G>A (p.Glu1650=)
c.1251G>A (p.Glu417=)
c.5337G>A (p.Glu1779=)
c.4701G>A (p.Glu1567=)
c.1491G>A (p.Glu497=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.177280699G>CCA362313098NSD1c.4884G>C (p.Glu1628Asp)
c.399G>C (p.Glu133Asp)
n.5340G>C
n.506G>C
c.5448G>C (p.Glu1816Asp)
n.5154G>C
n.5904G>C
n.2676G>C
c.5757G>C (p.Glu1919Asp)
c.4950G>C (p.Glu1650Asp)
c.1251G>C (p.Glu417Asp)
c.5337G>C (p.Glu1779Asp)
c.4701G>C (p.Glu1567Asp)
c.1491G>C (p.Glu497Asp)
5g.177280699G=CA1603550412NSD1c.4884G= (p.Glu1628=)
c.399G= (p.Glu133=)
n.5340G=
n.506G=
c.5448G= (p.Glu1816=)
n.5154G=
n.5904G=
n.2676G=
c.5757G= (p.Glu1919=)
c.4950G= (p.Glu1650=)
c.1251G= (p.Glu417=)
c.5337G= (p.Glu1779=)
c.4701G= (p.Glu1567=)
c.1491G= (p.Glu497=)
5g.177280699G>TCA362313101NSD1c.4884G>T (p.Glu1628Asp)
c.399G>T (p.Glu133Asp)
n.5340G>T
n.506G>T
c.5448G>T (p.Glu1816Asp)
n.5154G>T
n.5904G>T
n.2676G>T
c.5757G>T (p.Glu1919Asp)
c.4950G>T (p.Glu1650Asp)
c.1251G>T (p.Glu417Asp)
c.5337G>T (p.Glu1779Asp)
c.4701G>T (p.Glu1567Asp)
c.1491G>T (p.Glu497Asp)
 ClinVar dbSNP
5g.177280700T>ACA362313104NSD1c.4885T>A (p.Cys1629Ser)
c.400T>A (p.Cys134Ser)
n.5341T>A
n.507T>A
c.5449T>A (p.Cys1817Ser)
n.5155T>A
n.5905T>A
n.2677T>A
c.5758T>A (p.Cys1920Ser)
c.4951T>A (p.Cys1651Ser)
c.1252T>A (p.Cys418Ser)
c.5338T>A (p.Cys1780Ser)
c.4702T>A (p.Cys1568Ser)
c.1492T>A (p.Cys498Ser)
 ClinVar dbSNP
5g.177280700T>CCA362313106NSD1c.4885T>C (p.Cys1629Arg)
c.400T>C (p.Cys134Arg)
n.5341T>C
n.507T>C
c.5449T>C (p.Cys1817Arg)
n.5155T>C
n.5905T>C
n.2677T>C
c.5758T>C (p.Cys1920Arg)
c.4951T>C (p.Cys1651Arg)
c.1252T>C (p.Cys418Arg)
c.5338T>C (p.Cys1780Arg)
c.4702T>C (p.Cys1568Arg)
c.1492T>C (p.Cys498Arg)
 ClinVar dbSNP
5g.177280700T>GCA362313108NSD1c.4885T>G (p.Cys1629Gly)
c.400T>G (p.Cys134Gly)
n.5341T>G
n.507T>G
c.5449T>G (p.Cys1817Gly)
n.5155T>G
n.5905T>G
n.2677T>G
c.5758T>G (p.Cys1920Gly)
c.4951T>G (p.Cys1651Gly)
c.1252T>G (p.Cys418Gly)
c.5338T>G (p.Cys1780Gly)
c.4702T>G (p.Cys1568Gly)
c.1492T>G (p.Cys498Gly)
5g.177280700T=CA1603550420NSD1c.4885T= (p.Cys1629=)
c.400T= (p.Cys134=)
n.5341T=
n.507T=
c.5449T= (p.Cys1817=)
n.5155T=
n.5905T=
n.2677T=
c.5758T= (p.Cys1920=)
c.4951T= (p.Cys1651=)
c.1252T= (p.Cys418=)
c.5338T= (p.Cys1780=)
c.4702T= (p.Cys1568=)
c.1492T= (p.Cys498=)
5g.177280701G>ACA362313115NSD1c.4886G>A (p.Cys1629Tyr)
c.401G>A (p.Cys134Tyr)
n.5342G>A
n.508G>A
c.5450G>A (p.Cys1817Tyr)
n.5156G>A
n.5906G>A
n.2678G>A
c.5759G>A (p.Cys1920Tyr)
c.4952G>A (p.Cys1651Tyr)
c.1253G>A (p.Cys418Tyr)
c.5339G>A (p.Cys1780Tyr)
c.4703G>A (p.Cys1568Tyr)
c.1493G>A (p.Cys498Tyr)
 dbSNP
5g.177280701G>CCA362313111NSD1c.4886G>C (p.Cys1629Ser)
c.401G>C (p.Cys134Ser)
n.5342G>C
n.508G>C
c.5450G>C (p.Cys1817Ser)
n.5156G>C
n.5906G>C
n.2678G>C
c.5759G>C (p.Cys1920Ser)
c.4952G>C (p.Cys1651Ser)
c.1253G>C (p.Cys418Ser)
c.5339G>C (p.Cys1780Ser)
c.4703G>C (p.Cys1568Ser)
c.1493G>C (p.Cys498Ser)
5g.177280701G>TCA362313114NSD1c.4886G>T (p.Cys1629Phe)
c.401G>T (p.Cys134Phe)
n.5342G>T
n.508G>T
c.5450G>T (p.Cys1817Phe)
n.5156G>T
n.5906G>T
n.2678G>T
c.5759G>T (p.Cys1920Phe)
c.4952G>T (p.Cys1651Phe)
c.1253G>T (p.Cys418Phe)
c.5339G>T (p.Cys1780Phe)
c.4703G>T (p.Cys1568Phe)
c.1493G>T (p.Cys498Phe)
5g.177280702C>ACA362313118NSD1c.4887C>A (p.Cys1629Ter)
c.402C>A (p.Cys134Ter)
n.5343C>A
n.509C>A
c.5451C>A (p.Cys1817Ter)
n.5157C>A
n.5907C>A
n.2679C>A
c.5760C>A (p.Cys1920Ter)
c.4953C>A (p.Cys1651Ter)
c.1254C>A (p.Cys418Ter)
c.5340C>A (p.Cys1780Ter)
c.4704C>A (p.Cys1568Ter)
c.1494C>A (p.Cys498Ter)
5g.177280702C>GCA362313121NSD1c.4887C>G (p.Cys1629Trp)
c.402C>G (p.Cys134Trp)
n.5343C>G
n.509C>G
c.5451C>G (p.Cys1817Trp)
n.5157C>G
n.5907C>G
n.2679C>G
c.5760C>G (p.Cys1920Trp)
c.4953C>G (p.Cys1651Trp)
c.1254C>G (p.Cys418Trp)
c.5340C>G (p.Cys1780Trp)
c.4704C>G (p.Cys1568Trp)
c.1494C>G (p.Cys498Trp)
5g.177280702C>TCA447961306NSD1c.4887C>T (p.Cys1629=)
c.402C>T (p.Cys134=)
n.5343C>T
n.509C>T
c.5451C>T (p.Cys1817=)
n.5157C>T
n.5907C>T
n.2679C>T
c.5760C>T (p.Cys1920=)
c.4953C>T (p.Cys1651=)
c.1254C>T (p.Cys418=)
c.5340C>T (p.Cys1780=)
c.4704C>T (p.Cys1568=)
c.1494C>T (p.Cys498=)
 dbSNP
5g.177280703C>ACA362313124NSD1c.4888C>A (p.His1630Asn)
c.403C>A (p.His135Asn)
n.5344C>A
n.510C>A
c.5452C>A (p.His1818Asn)
n.5158C>A
n.5908C>A
n.2680C>A
c.5761C>A (p.His1921Asn)
c.4954C>A (p.His1652Asn)
c.1255C>A (p.His419Asn)
c.5341C>A (p.His1781Asn)
c.4705C>A (p.His1569Asn)
c.1495C>A (p.His499Asn)
5g.177280703C>GCA362313127NSD1c.4888C>G (p.His1630Asp)
c.403C>G (p.His135Asp)
n.5344C>G
n.510C>G
c.5452C>G (p.His1818Asp)
n.5158C>G
n.5908C>G
n.2680C>G
c.5761C>G (p.His1921Asp)
c.4954C>G (p.His1652Asp)
c.1255C>G (p.His419Asp)
c.5341C>G (p.His1781Asp)
c.4705C>G (p.His1569Asp)
c.1495C>G (p.His499Asp)
5g.177280703C>TCA362313130NSD1c.4888C>T (p.His1630Tyr)
c.403C>T (p.His135Tyr)
n.5344C>T
n.510C>T
c.5452C>T (p.His1818Tyr)
n.5158C>T
n.5908C>T
n.2680C>T
c.5761C>T (p.His1921Tyr)
c.4954C>T (p.His1652Tyr)
c.1255C>T (p.His419Tyr)
c.5341C>T (p.His1781Tyr)
c.4705C>T (p.His1569Tyr)
c.1495C>T (p.His499Tyr)
 gnomAD v4
5g.177280704A>CCA362313138NSD1c.4889A>C (p.His1630Pro)
c.404A>C (p.His135Pro)
n.5345A>C
n.511A>C
c.5453A>C (p.His1818Pro)
n.5159A>C
n.5909A>C
n.2681A>C
c.5762A>C (p.His1921Pro)
c.4955A>C (p.His1652Pro)
c.1256A>C (p.His419Pro)
c.5342A>C (p.His1781Pro)
c.4706A>C (p.His1569Pro)
c.1496A>C (p.His499Pro)
5g.177280704A>GCA362313140NSD1c.4889A>G (p.His1630Arg)
c.404A>G (p.His135Arg)
n.5345A>G
n.511A>G
c.5453A>G (p.His1818Arg)
n.5159A>G
n.5909A>G
n.2681A>G
c.5762A>G (p.His1921Arg)
c.4955A>G (p.His1652Arg)
c.1256A>G (p.His419Arg)
c.5342A>G (p.His1781Arg)
c.4706A>G (p.His1569Arg)
c.1496A>G (p.His499Arg)
5g.177280704A>TCA362313142NSD1c.4889A>T (p.His1630Leu)
c.404A>T (p.His135Leu)
n.5345A>T
n.511A>T
c.5453A>T (p.His1818Leu)
n.5159A>T
n.5909A>T
n.2681A>T
c.5762A>T (p.His1921Leu)
c.4955A>T (p.His1652Leu)
c.1256A>T (p.His419Leu)
c.5342A>T (p.His1781Leu)
c.4706A>T (p.His1569Leu)
c.1496A>T (p.His499Leu)
5g.177280705C>ACA362313146NSD1c.4890C>A (p.His1630Gln)
c.405C>A (p.His135Gln)
n.5346C>A
n.512C>A
c.5454C>A (p.His1818Gln)
n.5160C>A
n.5910C>A
n.2682C>A
c.5763C>A (p.His1921Gln)
c.4956C>A (p.His1652Gln)
c.1257C>A (p.His419Gln)
c.5343C>A (p.His1781Gln)
c.4707C>A (p.His1569Gln)
c.1497C>A (p.His499Gln)
5g.177280705C=CA1603550430NSD1c.4890C= (p.His1630=)
c.405C= (p.His135=)
n.5346C=
n.512C=
c.5454C= (p.His1818=)
n.5160C=
n.5910C=
n.2682C=
c.5763C= (p.His1921=)
c.4956C= (p.His1652=)
c.1257C= (p.His419=)
c.5343C= (p.His1781=)
c.4707C= (p.His1569=)
c.1497C= (p.His499=)
5g.177280705C>GCA362313149NSD1c.4890C>G (p.His1630Gln)
c.405C>G (p.His135Gln)
n.5346C>G
n.512C>G
c.5454C>G (p.His1818Gln)
n.5160C>G
n.5910C>G
n.2682C>G
c.5763C>G (p.His1921Gln)
c.4956C>G (p.His1652Gln)
c.1257C>G (p.His419Gln)
c.5343C>G (p.His1781Gln)
c.4707C>G (p.His1569Gln)
c.1497C>G (p.His499Gln)
 COSMIC COSMIC
5g.177280705C>TCA447961308NSD1c.4890C>T (p.His1630=)
c.405C>T (p.His135=)
n.5346C>T
n.512C>T
c.5454C>T (p.His1818=)
n.5160C>T
n.5910C>T
n.2682C>T
c.5763C>T (p.His1921=)
c.4956C>T (p.His1652=)
c.1257C>T (p.His419=)
c.5343C>T (p.His1781=)
c.4707C>T (p.His1569=)
c.1497C>T (p.His499=)
 dbSNP
5g.177280707_177280708dupCA2695205714NSD1c.4892_4893dup (p.Thr1632ProfsTer?)
c.407_408dup (p.Thr137ProfsTer?)
n.5348_5349dup
n.514_515dup
c.5456_5457dup (p.Thr1820ProfsTer?)
n.5162_5163dup
n.5912_5913dup
n.2684_2685dup
c.5765_5766dup (p.Thr1923ProfsTer?)
c.4958_4959dup (p.Thr1654ProfsTer?)
c.1259_1260dup (p.Thr421ProfsTer?)
c.5345_5346dup (p.Thr1783ProfsTer?)
c.4709_4710dup (p.Thr1571ProfsTer?)
c.1499_1500dup (p.Thr501ProfsTer?)
5g.177280706C>ACA362313152NSD1c.4891C>A (p.Pro1631Thr)
c.406C>A (p.Pro136Thr)
n.5347C>A
n.513C>A
c.5455C>A (p.Pro1819Thr)
n.5161C>A
n.5911C>A
n.2683C>A
c.5764C>A (p.Pro1922Thr)
c.4957C>A (p.Pro1653Thr)
c.1258C>A (p.Pro420Thr)
c.5344C>A (p.Pro1782Thr)
c.4708C>A (p.Pro1570Thr)
c.1498C>A (p.Pro500Thr)
5g.177280706C=CA1603550439NSD1c.4891C= (p.Pro1631=)
c.406C= (p.Pro136=)
n.5347C=
n.513C=
c.5455C= (p.Pro1819=)
n.5161C=
n.5911C=
n.2683C=
c.5764C= (p.Pro1922=)
c.4957C= (p.Pro1653=)
c.1258C= (p.Pro420=)
c.5344C= (p.Pro1782=)
c.4708C= (p.Pro1570=)
c.1498C= (p.Pro500=)
5g.177280706C>GCA362313156NSD1c.4891C>G (p.Pro1631Ala)
c.406C>G (p.Pro136Ala)
n.5347C>G
n.513C>G
c.5455C>G (p.Pro1819Ala)
n.5161C>G
n.5911C>G
n.2683C>G
c.5764C>G (p.Pro1922Ala)
c.4957C>G (p.Pro1653Ala)
c.1258C>G (p.Pro420Ala)
c.5344C>G (p.Pro1782Ala)
c.4708C>G (p.Pro1570Ala)
c.1498C>G (p.Pro500Ala)
5g.177280706C>TCA362313159NSD1c.4891C>T (p.Pro1631Ser)
c.406C>T (p.Pro136Ser)
n.5347C>T
n.513C>T
c.5455C>T (p.Pro1819Ser)
n.5161C>T
n.5911C>T
n.2683C>T
c.5764C>T (p.Pro1922Ser)
c.4957C>T (p.Pro1653Ser)
c.1258C>T (p.Pro420Ser)
c.5344C>T (p.Pro1782Ser)
c.4708C>T (p.Pro1570Ser)
c.1498C>T (p.Pro500Ser)
 dbSNP gnomAD v4
5g.177280707C>ACA362313162NSD1c.4892C>A (p.Pro1631His)
c.407C>A (p.Pro136His)
n.5348C>A
n.514C>A
c.5456C>A (p.Pro1819His)
n.5162C>A
n.5912C>A
n.2684C>A
c.5765C>A (p.Pro1922His)
c.4958C>A (p.Pro1653His)
c.1259C>A (p.Pro420His)
c.5345C>A (p.Pro1782His)
c.4709C>A (p.Pro1570His)
c.1499C>A (p.Pro500His)
 dbSNP
5g.177280707C>GCA362313169NSD1c.4892C>G (p.Pro1631Arg)
c.407C>G (p.Pro136Arg)
n.5348C>G
n.514C>G
c.5456C>G (p.Pro1819Arg)
n.5162C>G
n.5912C>G
n.2684C>G
c.5765C>G (p.Pro1922Arg)
c.4958C>G (p.Pro1653Arg)
c.1259C>G (p.Pro420Arg)
c.5345C>G (p.Pro1782Arg)
c.4709C>G (p.Pro1570Arg)
c.1499C>G (p.Pro500Arg)
5g.177280707C>TCA362313166NSD1c.4892C>T (p.Pro1631Leu)
c.407C>T (p.Pro136Leu)
n.5348C>T
n.514C>T
c.5456C>T (p.Pro1819Leu)
n.5162C>T
n.5912C>T
n.2684C>T
c.5765C>T (p.Pro1922Leu)
c.4958C>T (p.Pro1653Leu)
c.1259C>T (p.Pro420Leu)
c.5345C>T (p.Pro1782Leu)
c.4709C>T (p.Pro1570Leu)
c.1499C>T (p.Pro500Leu)
5g.177280707_177280709delinsCCACA1603550444NSD1c.4892_4894delinsCCA (p.Pro1631=)
c.407_409delinsCCA (p.Pro136=)
n.5348_5350delinsCCA
n.514_516delinsCCA
c.5456_5458delinsCCA (p.Pro1819=)
n.5162_5164delinsCCA
n.5912_5914delinsCCA
n.2684_2686delinsCCA
c.5765_5767delinsCCA (p.Pro1922=)
c.4958_4960delinsCCA (p.Pro1653=)
c.1259_1261delinsCCA (p.Pro420=)
c.5345_5347delinsCCA (p.Pro1782=)
c.4709_4711delinsCCA (p.Pro1570=)
c.1499_1501delinsCCA (p.Pro500=)
5g.177280708C>ACA447961311NSD1c.4893C>A (p.Pro1631=)
c.408C>A (p.Pro136=)
n.5349C>A
n.515C>A
c.5457C>A (p.Pro1819=)
n.5163C>A
n.5913C>A
n.2685C>A
c.5766C>A (p.Pro1922=)
c.4959C>A (p.Pro1653=)
c.1260C>A (p.Pro420=)
c.5346C>A (p.Pro1782=)
c.4710C>A (p.Pro1570=)
c.1500C>A (p.Pro500=)
5g.177280708C=CA1603550448NSD1c.4893C= (p.Pro1631=)
c.408C= (p.Pro136=)
n.5349C=
n.515C=
c.5457C= (p.Pro1819=)
n.5163C=
n.5913C=
n.2685C=
c.5766C= (p.Pro1922=)
c.4959C= (p.Pro1653=)
c.1260C= (p.Pro420=)
c.5346C= (p.Pro1782=)
c.4710C= (p.Pro1570=)
c.1500C= (p.Pro500=)
5g.177280708C>GCA447961312NSD1c.4893C>G (p.Pro1631=)
c.408C>G (p.Pro136=)
n.5349C>G
n.515C>G
c.5457C>G (p.Pro1819=)
n.5163C>G
n.5913C>G
n.2685C>G
c.5766C>G (p.Pro1922=)
c.4959C>G (p.Pro1653=)
c.1260C>G (p.Pro420=)
c.5346C>G (p.Pro1782=)
c.4710C>G (p.Pro1570=)
c.1500C>G (p.Pro500=)
5g.177280708C>TCA447961315NSD1c.4893C>T (p.Pro1631=)
c.408C>T (p.Pro136=)
n.5349C>T
n.515C>T
c.5457C>T (p.Pro1819=)
n.5163C>T
n.5913C>T
n.2685C>T
c.5766C>T (p.Pro1922=)
c.4959C>T (p.Pro1653=)
c.1260C>T (p.Pro420=)
c.5346C>T (p.Pro1782=)
c.4710C>T (p.Pro1570=)
c.1500C>T (p.Pro500=)
 ClinVar dbSNP gnomAD v4
5g.177280710_177280711delCA1139659261NSD1c.4895_4896del (p.Thr1632SerfsTer22)
c.410_411del (p.Thr137SerfsTer22)
n.5351_5352del
n.517_518del
c.5459_5460del (p.Thr1820SerfsTer22)
n.5165_5166del
n.5915_5916del
n.2687_2688del
c.5768_5769del (p.Thr1923SerfsTer22)
c.4961_4962del (p.Thr1654SerfsTer22)
c.1262_1263del (p.Thr421SerfsTer22)
c.5348_5349del (p.Thr1783SerfsTer22)
c.4712_4713del (p.Thr1571SerfsTer22)
c.1502_1503del (p.Thr501SerfsTer22)
 ClinVar dbSNP
5g.177280709A=CA1603550455NSD1c.4894A= (p.Thr1632=)
c.409A= (p.Thr137=)
n.5350A=
n.516A=
c.5458A= (p.Thr1820=)
n.5164A=
n.5914A=
n.2686A=
c.5767A= (p.Thr1923=)
c.4960A= (p.Thr1654=)
c.1261A= (p.Thr421=)
c.5347A= (p.Thr1783=)
c.4711A= (p.Thr1571=)
c.1501A= (p.Thr501=)
5g.177280709A>CCA362313170NSD1c.4894A>C (p.Thr1632Pro)
c.409A>C (p.Thr137Pro)
n.5350A>C
n.516A>C
c.5458A>C (p.Thr1820Pro)
n.5164A>C
n.5914A>C
n.2686A>C
c.5767A>C (p.Thr1923Pro)
c.4960A>C (p.Thr1654Pro)
c.1261A>C (p.Thr421Pro)
c.5347A>C (p.Thr1783Pro)
c.4711A>C (p.Thr1571Pro)
c.1501A>C (p.Thr501Pro)
5g.177280709A>GCA362313172NSD1c.4894A>G (p.Thr1632Ala)
c.409A>G (p.Thr137Ala)
n.5350A>G
n.516A>G
c.5458A>G (p.Thr1820Ala)
n.5164A>G
n.5914A>G
n.2686A>G
c.5767A>G (p.Thr1923Ala)
c.4960A>G (p.Thr1654Ala)
c.1261A>G (p.Thr421Ala)
c.5347A>G (p.Thr1783Ala)
c.4711A>G (p.Thr1571Ala)
c.1501A>G (p.Thr501Ala)
 dbSNP gnomAD v3 gnomAD v4
5g.177280709A>TCA362313175NSD1c.4894A>T (p.Thr1632Ser)
c.409A>T (p.Thr137Ser)
n.5350A>T
n.516A>T
c.5458A>T (p.Thr1820Ser)
n.5164A>T
n.5914A>T
n.2686A>T
c.5767A>T (p.Thr1923Ser)
c.4960A>T (p.Thr1654Ser)
c.1261A>T (p.Thr421Ser)
c.5347A>T (p.Thr1783Ser)
c.4711A>T (p.Thr1571Ser)
c.1501A>T (p.Thr501Ser)
5g.177280710C>ACA362313177NSD1c.4895C>A (p.Thr1632Lys)
c.410C>A (p.Thr137Lys)
n.5351C>A
n.517C>A
c.5459C>A (p.Thr1820Lys)
n.5165C>A
n.5915C>A
n.2687C>A
c.5768C>A (p.Thr1923Lys)
c.4961C>A (p.Thr1654Lys)
c.1262C>A (p.Thr421Lys)
c.5348C>A (p.Thr1783Lys)
c.4712C>A (p.Thr1571Lys)
c.1502C>A (p.Thr501Lys)
 dbSNP
5g.177280710C>GCA362313179NSD1c.4895C>G (p.Thr1632Arg)
c.410C>G (p.Thr137Arg)
n.5351C>G
n.517C>G
c.5459C>G (p.Thr1820Arg)
n.5165C>G
n.5915C>G
n.2687C>G
c.5768C>G (p.Thr1923Arg)
c.4961C>G (p.Thr1654Arg)
c.1262C>G (p.Thr421Arg)
c.5348C>G (p.Thr1783Arg)
c.4712C>G (p.Thr1571Arg)
c.1502C>G (p.Thr501Arg)
5g.177280710C>TCA362313182NSD1c.4895C>T (p.Thr1632Ile)
c.410C>T (p.Thr137Ile)
n.5351C>T
n.517C>T
c.5459C>T (p.Thr1820Ile)
n.5165C>T
n.5915C>T
n.2687C>T
c.5768C>T (p.Thr1923Ile)
c.4961C>T (p.Thr1654Ile)
c.1262C>T (p.Thr421Ile)
c.5348C>T (p.Thr1783Ile)
c.4712C>T (p.Thr1571Ile)
c.1502C>T (p.Thr501Ile)
5g.177280711A=CA1603550459NSD1c.4896A= (p.Thr1632=)
c.411A= (p.Thr137=)
n.5352A=
n.518A=
c.5460A= (p.Thr1820=)
n.5166A=
n.5916A=
n.2688A=
c.5769A= (p.Thr1923=)
c.4962A= (p.Thr1654=)
c.1263A= (p.Thr421=)
c.5349A= (p.Thr1783=)
c.4713A= (p.Thr1571=)
c.1503A= (p.Thr501=)
5g.177280711A>CCA447961317NSD1c.4896A>C (p.Thr1632=)
c.411A>C (p.Thr137=)
n.5352A>C
n.518A>C
c.5460A>C (p.Thr1820=)
n.5166A>C
n.5916A>C
n.2688A>C
c.5769A>C (p.Thr1923=)
c.4962A>C (p.Thr1654=)
c.1263A>C (p.Thr421=)
c.5349A>C (p.Thr1783=)
c.4713A>C (p.Thr1571=)
c.1503A>C (p.Thr501=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.177280711A>GCA447961322NSD1c.4896A>G (p.Thr1632=)
c.411A>G (p.Thr137=)
n.5352A>G
n.518A>G
c.5460A>G (p.Thr1820=)
n.5166A>G
n.5916A>G
n.2688A>G
c.5769A>G (p.Thr1923=)
c.4962A>G (p.Thr1654=)
c.1263A>G (p.Thr421=)
c.5349A>G (p.Thr1783=)
c.4713A>G (p.Thr1571=)
c.1503A>G (p.Thr501=)
 dbSNP gnomAD v3 gnomAD v4
5g.177280711A>TCA447961319NSD1c.4896A>T (p.Thr1632=)
c.411A>T (p.Thr137=)
n.5352A>T
n.518A>T
c.5460A>T (p.Thr1820=)
n.5166A>T
n.5916A>T
n.2688A>T
c.5769A>T (p.Thr1923=)
c.4962A>T (p.Thr1654=)
c.1263A>T (p.Thr421=)
c.5349A>T (p.Thr1783=)
c.4713A>T (p.Thr1571=)
c.1503A>T (p.Thr501=)
 gnomAD v4
5g.177280712G>ACA362313185NSD1c.4897G>A (p.Val1633Met)
c.412G>A (p.Val138Met)
n.5353G>A
n.519G>A
c.5461G>A (p.Val1821Met)
n.5167G>A
n.5917G>A
n.2689G>A
c.5770G>A (p.Val1924Met)
c.4963G>A (p.Val1655Met)
c.1264G>A (p.Val422Met)
c.5350G>A (p.Val1784Met)
c.4714G>A (p.Val1572Met)
c.1504G>A (p.Val502Met)
 dbSNP COSMIC COSMIC
5g.177280712G>CCA362313188NSD1c.4897G>C (p.Val1633Leu)
c.412G>C (p.Val138Leu)
n.5353G>C
n.519G>C
c.5461G>C (p.Val1821Leu)
n.5167G>C
n.5917G>C
n.2689G>C
c.5770G>C (p.Val1924Leu)
c.4963G>C (p.Val1655Leu)
c.1264G>C (p.Val422Leu)
c.5350G>C (p.Val1784Leu)
c.4714G>C (p.Val1572Leu)
c.1504G>C (p.Val502Leu)
5g.177280712G=CA1603550467NSD1c.4897G= (p.Val1633=)
c.412G= (p.Val138=)
n.5353G=
n.519G=
c.5461G= (p.Val1821=)
n.5167G=
n.5917G=
n.2689G=
c.5770G= (p.Val1924=)
c.4963G= (p.Val1655=)
c.1264G= (p.Val422=)
c.5350G= (p.Val1784=)
c.4714G= (p.Val1572=)
c.1504G= (p.Val502=)
5g.177280712G>TCA362313190NSD1c.4897G>T (p.Val1633Leu)
c.412G>T (p.Val138Leu)
n.5353G>T
n.519G>T
c.5461G>T (p.Val1821Leu)
n.5167G>T
n.5917G>T
n.2689G>T
c.5770G>T (p.Val1924Leu)
c.4963G>T (p.Val1655Leu)
c.1264G>T (p.Val422Leu)
c.5350G>T (p.Val1784Leu)
c.4714G>T (p.Val1572Leu)
c.1504G>T (p.Val502Leu)
5g.177280713T>ACA362313192NSD1c.4898T>A (p.Val1633Glu)
c.413T>A (p.Val138Glu)
n.5354T>A
n.520T>A
c.5462T>A (p.Val1821Glu)
n.5168T>A
n.5918T>A
n.2690T>A
c.5771T>A (p.Val1924Glu)
c.4964T>A (p.Val1655Glu)
c.1265T>A (p.Val422Glu)
c.5351T>A (p.Val1784Glu)
c.4715T>A (p.Val1572Glu)
c.1505T>A (p.Val502Glu)
5g.177280713T>CCA362313196NSD1c.4898T>C (p.Val1633Ala)
c.413T>C (p.Val138Ala)
n.5354T>C
n.520T>C
c.5462T>C (p.Val1821Ala)
n.5168T>C
n.5918T>C
n.2690T>C
c.5771T>C (p.Val1924Ala)
c.4964T>C (p.Val1655Ala)
c.1265T>C (p.Val422Ala)
c.5351T>C (p.Val1784Ala)
c.4715T>C (p.Val1572Ala)
c.1505T>C (p.Val502Ala)
5g.177280713T>GCA362313197NSD1c.4898T>G (p.Val1633Gly)
c.413T>G (p.Val138Gly)
n.5354T>G
n.520T>G
c.5462T>G (p.Val1821Gly)
n.5168T>G
n.5918T>G
n.2690T>G
c.5771T>G (p.Val1924Gly)
c.4964T>G (p.Val1655Gly)
c.1265T>G (p.Val422Gly)
c.5351T>G (p.Val1784Gly)
c.4715T>G (p.Val1572Gly)
c.1505T>G (p.Val502Gly)
5g.177280714G>ACA447961325NSD1c.4899G>A (p.Val1633=)
c.414G>A (p.Val138=)
n.5355G>A
n.521G>A
c.5463G>A (p.Val1821=)
n.5169G>A
n.5919G>A
n.2691G>A
c.5772G>A (p.Val1924=)
c.4965G>A (p.Val1655=)
c.1266G>A (p.Val422=)
c.5352G>A (p.Val1784=)
c.4716G>A (p.Val1572=)
c.1506G>A (p.Val502=)
 dbSNP
5g.177280714G>CCA447961326NSD1c.4899G>C (p.Val1633=)
c.414G>C (p.Val138=)
n.5355G>C
n.521G>C
c.5463G>C (p.Val1821=)
n.5169G>C
n.5919G>C
n.2691G>C
c.5772G>C (p.Val1924=)
c.4965G>C (p.Val1655=)
c.1266G>C (p.Val422=)
c.5352G>C (p.Val1784=)
c.4716G>C (p.Val1572=)
c.1506G>C (p.Val502=)
5g.177280714G>TCA447961327NSD1c.4899G>T (p.Val1633=)
c.414G>T (p.Val138=)
n.5355G>T
n.521G>T
c.5463G>T (p.Val1821=)
n.5169G>T
n.5919G>T
n.2691G>T
c.5772G>T (p.Val1924=)
c.4965G>T (p.Val1655=)
c.1266G>T (p.Val422=)
c.5352G>T (p.Val1784=)
c.4716G>T (p.Val1572=)
c.1506G>T (p.Val502=)
 gnomAD v4
5g.177280715T>ACA362313206NSD1c.4900T>A (p.Cys1634Ser)
c.415T>A (p.Cys139Ser)
n.5356T>A
n.522T>A
c.5464T>A (p.Cys1822Ser)
n.5170T>A
n.5920T>A
n.2692T>A
c.5773T>A (p.Cys1925Ser)
c.4966T>A (p.Cys1656Ser)
c.1267T>A (p.Cys423Ser)
c.5353T>A (p.Cys1785Ser)
c.4717T>A (p.Cys1573Ser)
c.1507T>A (p.Cys503Ser)
5g.177280715T>CCA362313201NSD1c.4900T>C (p.Cys1634Arg)
c.415T>C (p.Cys139Arg)
n.5356T>C
n.522T>C
c.5464T>C (p.Cys1822Arg)
n.5170T>C
n.5920T>C
n.2692T>C
c.5773T>C (p.Cys1925Arg)
c.4966T>C (p.Cys1656Arg)
c.1267T>C (p.Cys423Arg)
c.5353T>C (p.Cys1785Arg)
c.4717T>C (p.Cys1573Arg)
c.1507T>C (p.Cys503Arg)
5g.177280715T>GCA362313204NSD1c.4900T>G (p.Cys1634Gly)
c.415T>G (p.Cys139Gly)
n.5356T>G
n.522T>G
c.5464T>G (p.Cys1822Gly)
n.5170T>G
n.5920T>G
n.2692T>G
c.5773T>G (p.Cys1925Gly)
c.4966T>G (p.Cys1656Gly)
c.1267T>G (p.Cys423Gly)
c.5353T>G (p.Cys1785Gly)
c.4717T>G (p.Cys1573Gly)
c.1507T>G (p.Cys503Gly)
5g.177280716G>ACA362313211NSD1c.4901G>A (p.Cys1634Tyr)
c.416G>A (p.Cys139Tyr)
n.5357G>A
n.523G>A
c.5465G>A (p.Cys1822Tyr)
n.5171G>A
n.5921G>A
n.2693G>A
c.5774G>A (p.Cys1925Tyr)
c.4967G>A (p.Cys1656Tyr)
c.1268G>A (p.Cys423Tyr)
c.5354G>A (p.Cys1785Tyr)
c.4718G>A (p.Cys1573Tyr)
c.1508G>A (p.Cys503Tyr)
 ClinVar dbSNP
5g.177280716G>CCA362313212NSD1c.4901G>C (p.Cys1634Ser)
c.416G>C (p.Cys139Ser)
n.5357G>C
n.523G>C
c.5465G>C (p.Cys1822Ser)
n.5171G>C
n.5921G>C
n.2693G>C
c.5774G>C (p.Cys1925Ser)
c.4967G>C (p.Cys1656Ser)
c.1268G>C (p.Cys423Ser)
c.5354G>C (p.Cys1785Ser)
c.4718G>C (p.Cys1573Ser)
c.1508G>C (p.Cys503Ser)
 dbSNP
5g.177280716G=CA1603550474NSD1c.4901G= (p.Cys1634=)
c.416G= (p.Cys139=)
n.5357G=
n.523G=
c.5465G= (p.Cys1822=)
n.5171G=
n.5921G=
n.2693G=
c.5774G= (p.Cys1925=)
c.4967G= (p.Cys1656=)
c.1268G= (p.Cys423=)
c.5354G= (p.Cys1785=)
c.4718G= (p.Cys1573=)
c.1508G= (p.Cys503=)
5g.177280716G>TCA362313215NSD1c.4901G>T (p.Cys1634Phe)
c.416G>T (p.Cys139Phe)
n.5357G>T
n.523G>T
c.5465G>T (p.Cys1822Phe)
n.5171G>T
n.5921G>T
n.2693G>T
c.5774G>T (p.Cys1925Phe)
c.4967G>T (p.Cys1656Phe)
c.1268G>T (p.Cys423Phe)
c.5354G>T (p.Cys1785Phe)
c.4718G>T (p.Cys1573Phe)
c.1508G>T (p.Cys503Phe)
5g.177280717T>ACA362313218NSD1c.4902T>A (p.Cys1634Ter)
c.417T>A (p.Cys139Ter)
n.5358T>A
n.524T>A
c.5466T>A (p.Cys1822Ter)
n.5172T>A
n.5922T>A
n.2694T>A
c.5775T>A (p.Cys1925Ter)
c.4968T>A (p.Cys1656Ter)
c.1269T>A (p.Cys423Ter)
c.5355T>A (p.Cys1785Ter)
c.4719T>A (p.Cys1573Ter)
c.1509T>A (p.Cys503Ter)
5g.177280717T>CCA447961329NSD1c.4902T>C (p.Cys1634=)
c.417T>C (p.Cys139=)
n.5358T>C
n.524T>C
c.5466T>C (p.Cys1822=)
n.5172T>C
n.5922T>C
n.2694T>C
c.5775T>C (p.Cys1925=)
c.4968T>C (p.Cys1656=)
c.1269T>C (p.Cys423=)
c.5355T>C (p.Cys1785=)
c.4719T>C (p.Cys1573=)
c.1509T>C (p.Cys503=)
5g.177280717T>GCA362313219NSD1c.4902T>G (p.Cys1634Trp)
c.417T>G (p.Cys139Trp)
n.5358T>G
n.524T>G
c.5466T>G (p.Cys1822Trp)
n.5172T>G
n.5922T>G
n.2694T>G
c.5775T>G (p.Cys1925Trp)
c.4968T>G (p.Cys1656Trp)
c.1269T>G (p.Cys423Trp)
c.5355T>G (p.Cys1785Trp)
c.4719T>G (p.Cys1573Trp)
c.1509T>G (p.Cys503Trp)
5g.177280718C>ACA362313220NSD1c.4903C>A (p.Pro1635Thr)
c.418C>A (p.Pro140Thr)
n.5359C>A
n.525C>A
c.5467C>A (p.Pro1823Thr)
n.5173C>A
n.5923C>A
n.2695C>A
c.5776C>A (p.Pro1926Thr)
c.4969C>A (p.Pro1657Thr)
c.1270C>A (p.Pro424Thr)
c.5356C>A (p.Pro1786Thr)
c.4720C>A (p.Pro1574Thr)
c.1510C>A (p.Pro504Thr)
 dbSNP gnomAD v4
5g.177280718C=CA1603550489NSD1c.4903C= (p.Pro1635=)
c.418C= (p.Pro140=)
n.5359C=
n.525C=
c.5467C= (p.Pro1823=)
n.5173C=
n.5923C=
n.2695C=
c.5776C= (p.Pro1926=)
c.4969C= (p.Pro1657=)
c.1270C= (p.Pro424=)
c.5356C= (p.Pro1786=)
c.4720C= (p.Pro1574=)
c.1510C= (p.Pro504=)
5g.177280718C>GCA3577892NSD1c.4903C>G (p.Pro1635Ala)
c.418C>G (p.Pro140Ala)
n.5359C>G
n.525C>G
c.5467C>G (p.Pro1823Ala)
n.5173C>G
n.5923C>G
n.2695C>G
c.5776C>G (p.Pro1926Ala)
c.4969C>G (p.Pro1657Ala)
c.1270C>G (p.Pro424Ala)
c.5356C>G (p.Pro1786Ala)
c.4720C>G (p.Pro1574Ala)
c.1510C>G (p.Pro504Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.177280718C>TCA3577893NSD1c.4903C>T (p.Pro1635Ser)
c.418C>T (p.Pro140Ser)
n.5359C>T
n.525C>T
c.5467C>T (p.Pro1823Ser)
n.5173C>T
n.5923C>T
n.2695C>T
c.5776C>T (p.Pro1926Ser)
c.4969C>T (p.Pro1657Ser)
c.1270C>T (p.Pro424Ser)
c.5356C>T (p.Pro1786Ser)
c.4720C>T (p.Pro1574Ser)
c.1510C>T (p.Pro504Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.177280719C>ACA362313223NSD1c.4904C>A (p.Pro1635His)
c.419C>A (p.Pro140His)
n.5360C>A
n.526C>A
c.5468C>A (p.Pro1823His)
n.5174C>A
n.5924C>A
n.2696C>A
c.5777C>A (p.Pro1926His)
c.4970C>A (p.Pro1657His)
c.1271C>A (p.Pro424His)
c.5357C>A (p.Pro1786His)
c.4721C>A (p.Pro1574His)
c.1511C>A (p.Pro504His)
5g.177280719C>GCA362313227NSD1c.4904C>G (p.Pro1635Arg)
c.419C>G (p.Pro140Arg)
n.5360C>G
n.526C>G
c.5468C>G (p.Pro1823Arg)
n.5174C>G
n.5924C>G
n.2696C>G
c.5777C>G (p.Pro1926Arg)
c.4970C>G (p.Pro1657Arg)
c.1271C>G (p.Pro424Arg)
c.5357C>G (p.Pro1786Arg)
c.4721C>G (p.Pro1574Arg)
c.1511C>G (p.Pro504Arg)
5g.177280719C>TCA362313228NSD1c.4904C>T (p.Pro1635Leu)
c.419C>T (p.Pro140Leu)
n.5360C>T
n.526C>T
c.5468C>T (p.Pro1823Leu)
n.5174C>T
n.5924C>T
n.2696C>T
c.5777C>T (p.Pro1926Leu)
c.4970C>T (p.Pro1657Leu)
c.1271C>T (p.Pro424Leu)
c.5357C>T (p.Pro1786Leu)
c.4721C>T (p.Pro1574Leu)
c.1511C>T (p.Pro504Leu)
5g.177280720T>ACA447961335NSD1c.4905T>A (p.Pro1635=)
c.420T>A (p.Pro140=)
n.5361T>A
n.527T>A
c.5469T>A (p.Pro1823=)
n.5175T>A
n.5925T>A
n.2697T>A
c.5778T>A (p.Pro1926=)
c.4971T>A (p.Pro1657=)
c.1272T>A (p.Pro424=)
c.5358T>A (p.Pro1786=)
c.4722T>A (p.Pro1574=)
c.1512T>A (p.Pro504=)
5g.177280720T>CCA447961338NSD1c.4905T>C (p.Pro1635=)
c.420T>C (p.Pro140=)
n.5361T>C
n.527T>C
c.5469T>C (p.Pro1823=)
n.5175T>C
n.5925T>C
n.2697T>C
c.5778T>C (p.Pro1926=)
c.4971T>C (p.Pro1657=)
c.1272T>C (p.Pro424=)
c.5358T>C (p.Pro1786=)
c.4722T>C (p.Pro1574=)
c.1512T>C (p.Pro504=)
 gnomAD v4
5g.177280720T>GCA447961341NSD1c.4905T>G (p.Pro1635=)
c.420T>G (p.Pro140=)
n.5361T>G
n.527T>G
c.5469T>G (p.Pro1823=)
n.5175T>G
n.5925T>G
n.2697T>G
c.5778T>G (p.Pro1926=)
c.4971T>G (p.Pro1657=)
c.1272T>G (p.Pro424=)
c.5358T>G (p.Pro1786=)
c.4722T>G (p.Pro1574=)
c.1512T>G (p.Pro504=)
5g.177280721G>ACA362313235NSD1c.4906G>A (p.Ala1636Thr)
c.421G>A (p.Ala141Thr)
n.5362G>A
n.528G>A
c.5470G>A (p.Ala1824Thr)
n.5176G>A
n.5926G>A
n.2698G>A
c.5779G>A (p.Ala1927Thr)
c.4972G>A (p.Ala1658Thr)
c.1273G>A (p.Ala425Thr)
c.5359G>A (p.Ala1787Thr)
c.4723G>A (p.Ala1575Thr)
c.1513G>A (p.Ala505Thr)
5g.177280721G>CCA362313233NSD1c.4906G>C (p.Ala1636Pro)
c.421G>C (p.Ala141Pro)
n.5362G>C
n.528G>C
c.5470G>C (p.Ala1824Pro)
n.5176G>C
n.5926G>C
n.2698G>C
c.5779G>C (p.Ala1927Pro)
c.4972G>C (p.Ala1658Pro)
c.1273G>C (p.Ala425Pro)
c.5359G>C (p.Ala1787Pro)
c.4723G>C (p.Ala1575Pro)
c.1513G>C (p.Ala505Pro)
 ClinVar dbSNP
5g.177280721G=CA1603550493NSD1c.4906G= (p.Ala1636=)
c.421G= (p.Ala141=)
n.5362G=
n.528G=
c.5470G= (p.Ala1824=)
n.5176G=
n.5926G=
n.2698G=
c.5779G= (p.Ala1927=)
c.4972G= (p.Ala1658=)
c.1273G= (p.Ala425=)
c.5359G= (p.Ala1787=)
c.4723G= (p.Ala1575=)
c.1513G= (p.Ala505=)
5g.177280721G>TCA362313231NSD1c.4906G>T (p.Ala1636Ser)
c.421G>T (p.Ala141Ser)
n.5362G>T
n.528G>T
c.5470G>T (p.Ala1824Ser)
n.5176G>T
n.5926G>T
n.2698G>T
c.5779G>T (p.Ala1927Ser)
c.4972G>T (p.Ala1658Ser)
c.1273G>T (p.Ala425Ser)
c.5359G>T (p.Ala1787Ser)
c.4723G>T (p.Ala1575Ser)
c.1513G>T (p.Ala505Ser)
 gnomAD v4
5g.177280722C>ACA362313239NSD1c.4907C>A (p.Ala1636Asp)
c.422C>A (p.Ala141Asp)
n.5363C>A
n.529C>A
c.5471C>A (p.Ala1824Asp)
n.5177C>A
n.5927C>A
n.2699C>A
c.5780C>A (p.Ala1927Asp)
c.4973C>A (p.Ala1658Asp)
c.1274C>A (p.Ala425Asp)
c.5360C>A (p.Ala1787Asp)
c.4724C>A (p.Ala1575Asp)
c.1514C>A (p.Ala505Asp)
 ClinVar
5g.177280722C>GCA362313243NSD1c.4907C>G (p.Ala1636Gly)
c.422C>G (p.Ala141Gly)
n.5363C>G
n.529C>G
c.5471C>G (p.Ala1824Gly)
n.5177C>G
n.5927C>G
n.2699C>G
c.5780C>G (p.Ala1927Gly)
c.4973C>G (p.Ala1658Gly)
c.1274C>G (p.Ala425Gly)
c.5360C>G (p.Ala1787Gly)
c.4724C>G (p.Ala1575Gly)
c.1514C>G (p.Ala505Gly)
5g.177280722C>TCA362313241NSD1c.4907C>T (p.Ala1636Val)
c.422C>T (p.Ala141Val)
n.5363C>T
n.529C>T
c.5471C>T (p.Ala1824Val)
n.5177C>T
n.5927C>T
n.2699C>T
c.5780C>T (p.Ala1927Val)
c.4973C>T (p.Ala1658Val)
c.1274C>T (p.Ala425Val)
c.5360C>T (p.Ala1787Val)
c.4724C>T (p.Ala1575Val)
c.1514C>T (p.Ala505Val)
 dbSNP
5g.177280723C>ACA447961343NSD1c.4908C>A (p.Ala1636=)
c.423C>A (p.Ala141=)
n.5364C>A
n.530C>A
c.5472C>A (p.Ala1824=)
n.5178C>A
n.5928C>A
n.2700C>A
c.5781C>A (p.Ala1927=)
c.4974C>A (p.Ala1658=)
c.1275C>A (p.Ala425=)
c.5361C>A (p.Ala1787=)
c.4725C>A (p.Ala1575=)
c.1515C>A (p.Ala505=)
5g.177280723C=CA1603550502NSD1c.4908C= (p.Ala1636=)
c.423C= (p.Ala141=)
n.5364C=
n.530C=
c.5472C= (p.Ala1824=)
n.5178C=
n.5928C=
n.2700C=
c.5781C= (p.Ala1927=)
c.4974C= (p.Ala1658=)
c.1275C= (p.Ala425=)
c.5361C= (p.Ala1787=)
c.4725C= (p.Ala1575=)
c.1515C= (p.Ala505=)
5g.177280723C>GCA149203NSD1c.4908C>G (p.Ala1636=)
c.423C>G (p.Ala141=)
n.5364C>G
n.530C>G
c.5472C>G (p.Ala1824=)
n.5178C>G
n.5928C>G
n.2700C>G
c.5781C>G (p.Ala1927=)
c.4974C>G (p.Ala1658=)
c.1275C>G (p.Ala425=)
c.5361C>G (p.Ala1787=)
c.4725C>G (p.Ala1575=)
c.1515C>G (p.Ala505=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.177280723C>TCA3577894NSD1c.4908C>T (p.Ala1636=)
c.423C>T (p.Ala141=)
n.5364C>T
n.530C>T
c.5472C>T (p.Ala1824=)
n.5178C>T
n.5928C>T
n.2700C>T
c.5781C>T (p.Ala1927=)
c.4974C>T (p.Ala1658=)
c.1275C>T (p.Ala425=)
c.5361C>T (p.Ala1787=)
c.4725C>T (p.Ala1575=)
c.1515C>T (p.Ala505=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.177280724G>ACA16622014NSD1c.4909G>A (p.Gly1637Arg)
c.424G>A (p.Gly142Arg)
n.5365G>A
n.531G>A
c.5473G>A (p.Gly1825Arg)
n.5179G>A
n.5929G>A
n.2701G>A
c.5782G>A (p.Gly1928Arg)
c.4975G>A (p.Gly1659Arg)
c.1276G>A (p.Gly426Arg)
c.5362G>A (p.Gly1788Arg)
c.4726G>A (p.Gly1576Arg)
c.1516G>A (p.Gly506Arg)
 dbSNP gnomAD v2 gnomAD v4
5g.177280724G>CCA362313255NSD1c.4909G>C (p.Gly1637Arg)
c.424G>C (p.Gly142Arg)
n.5365G>C
n.531G>C
c.5473G>C (p.Gly1825Arg)
n.5179G>C
n.5929G>C
n.2701G>C
c.5782G>C (p.Gly1928Arg)
c.4975G>C (p.Gly1659Arg)
c.1276G>C (p.Gly426Arg)
c.5362G>C (p.Gly1788Arg)
c.4726G>C (p.Gly1576Arg)
c.1516G>C (p.Gly506Arg)
5g.177280724G=CA1603550513NSD1c.4909G= (p.Gly1637=)
c.424G= (p.Gly142=)
n.5365G=
n.531G=
c.5473G= (p.Gly1825=)
n.5179G=
n.5929G=
n.2701G=
c.5782G= (p.Gly1928=)
c.4975G= (p.Gly1659=)
c.1276G= (p.Gly426=)
c.5362G= (p.Gly1788=)
c.4726G= (p.Gly1576=)
c.1516G= (p.Gly506=)
5g.177280724G>TCA362313258NSD1c.4909G>T (p.Gly1637Ter)
c.424G>T (p.Gly142Ter)
n.5365G>T
n.531G>T
c.5473G>T (p.Gly1825Ter)
n.5179G>T
n.5929G>T
n.2701G>T
c.5782G>T (p.Gly1928Ter)
c.4975G>T (p.Gly1659Ter)
c.1276G>T (p.Gly426Ter)
c.5362G>T (p.Gly1788Ter)
c.4726G>T (p.Gly1576Ter)
c.1516G>T (p.Gly506Ter)
5g.177280725G>ACA362313260NSD1c.4910G>A (p.Gly1637Glu)
c.425G>A (p.Gly142Glu)
n.5366G>A
n.532G>A
c.5474G>A (p.Gly1825Glu)
n.5180G>A
n.5930G>A
n.2702G>A
c.5783G>A (p.Gly1928Glu)
c.4976G>A (p.Gly1659Glu)
c.1277G>A (p.Gly426Glu)
c.5363G>A (p.Gly1788Glu)
c.4727G>A (p.Gly1576Glu)
c.1517G>A (p.Gly506Glu)
 gnomAD v4
5g.177280725G>CCA362313262NSD1c.4910G>C (p.Gly1637Ala)
c.425G>C (p.Gly142Ala)
n.5366G>C
n.532G>C
c.5474G>C (p.Gly1825Ala)
n.5180G>C
n.5930G>C
n.2702G>C
c.5783G>C (p.Gly1928Ala)
c.4976G>C (p.Gly1659Ala)
c.1277G>C (p.Gly426Ala)
c.5363G>C (p.Gly1788Ala)
c.4727G>C (p.Gly1576Ala)
c.1517G>C (p.Gly506Ala)
5g.177280725G=CA1603550518NSD1c.4910G= (p.Gly1637=)
c.425G= (p.Gly142=)
n.5366G=
n.532G=
c.5474G= (p.Gly1825=)
n.5180G=
n.5930G=
n.2702G=
c.5783G= (p.Gly1928=)
c.4976G= (p.Gly1659=)
c.1277G= (p.Gly426=)
c.5363G= (p.Gly1788=)
c.4727G= (p.Gly1576=)
c.1517G= (p.Gly506=)
5g.177280725G>TCA362313264NSD1c.4910G>T (p.Gly1637Val)
c.425G>T (p.Gly142Val)
n.5366G>T
n.532G>T
c.5474G>T (p.Gly1825Val)
n.5180G>T
n.5930G>T
n.2702G>T
c.5783G>T (p.Gly1928Val)
c.4976G>T (p.Gly1659Val)
c.1277G>T (p.Gly426Val)
c.5363G>T (p.Gly1788Val)
c.4727G>T (p.Gly1576Val)
c.1517G>T (p.Gly506Val)
 dbSNP gnomAD v2 gnomAD v4
5g.177280726A>CCA447961347NSD1c.4911A>C (p.Gly1637=)
c.426A>C (p.Gly142=)
n.5367A>C
n.533A>C
c.5475A>C (p.Gly1825=)
n.5181A>C
n.5931A>C
n.2703A>C
c.5784A>C (p.Gly1928=)
c.4977A>C (p.Gly1659=)
c.1278A>C (p.Gly426=)
c.5364A>C (p.Gly1788=)
c.4728A>C (p.Gly1576=)
c.1518A>C (p.Gly506=)
5g.177280726A>GCA447961349NSD1c.4911A>G (p.Gly1637=)
c.426A>G (p.Gly142=)
n.5367A>G
n.533A>G
c.5475A>G (p.Gly1825=)
n.5181A>G
n.5931A>G
n.2703A>G
c.5784A>G (p.Gly1928=)
c.4977A>G (p.Gly1659=)
c.1278A>G (p.Gly426=)
c.5364A>G (p.Gly1788=)
c.4728A>G (p.Gly1576=)
c.1518A>G (p.Gly506=)
 gnomAD v4
5g.177280726A>TCA447961352NSD1c.4911A>T (p.Gly1637=)
c.426A>T (p.Gly142=)
n.5367A>T
n.533A>T
c.5475A>T (p.Gly1825=)
n.5181A>T
n.5931A>T
n.2703A>T
c.5784A>T (p.Gly1928=)
c.4977A>T (p.Gly1659=)
c.1278A>T (p.Gly426=)
c.5364A>T (p.Gly1788=)
c.4728A>T (p.Gly1576=)
c.1518A>T (p.Gly506=)
5g.177280727G>ACA362313266NSD1c.4912G>A (p.Gly1638Arg)
c.427G>A (p.Gly143Arg)
n.5368G>A
n.534G>A
c.5476G>A (p.Gly1826Arg)
n.5182G>A
n.5932G>A
n.2704G>A
c.5785G>A (p.Gly1929Arg)
c.4978G>A (p.Gly1660Arg)
c.1279G>A (p.Gly427Arg)
c.5365G>A (p.Gly1789Arg)
c.4729G>A (p.Gly1577Arg)
c.1519G>A (p.Gly507Arg)
5g.177280727G>CCA362313268NSD1c.4912G>C (p.Gly1638Arg)
c.427G>C (p.Gly143Arg)
n.5368G>C
n.534G>C
c.5476G>C (p.Gly1826Arg)
n.5182G>C
n.5932G>C
n.2704G>C
c.5785G>C (p.Gly1929Arg)
c.4978G>C (p.Gly1660Arg)
c.1279G>C (p.Gly427Arg)
c.5365G>C (p.Gly1789Arg)
c.4729G>C (p.Gly1577Arg)
c.1519G>C (p.Gly507Arg)
5g.177280727G>TCA362313271NSD1c.4912G>T (p.Gly1638Trp)
c.427G>T (p.Gly143Trp)
n.5368G>T
n.534G>T
c.5476G>T (p.Gly1826Trp)
n.5182G>T
n.5932G>T
n.2704G>T
c.5785G>T (p.Gly1929Trp)
c.4978G>T (p.Gly1660Trp)
c.1279G>T (p.Gly427Trp)
c.5365G>T (p.Gly1789Trp)
c.4729G>T (p.Gly1577Trp)
c.1519G>T (p.Gly507Trp)
 COSMIC COSMIC
5g.177280729delCA2695205717NSD1c.4914del (p.Arg1639AlafsTer?)
c.429del (p.Arg144AlafsTer?)
n.5370del
n.536del
c.5478del (p.Arg1827AlafsTer?)
n.5184del
n.5934del
n.2706del
c.5787del (p.Arg1930AlafsTer?)
c.4980del (p.Arg1661AlafsTer?)
c.1281del (p.Arg428AlafsTer?)
c.5367del (p.Arg1790AlafsTer?)
c.4731del (p.Arg1578AlafsTer?)
c.1521del (p.Arg508AlafsTer?)
5g.177280728G>ACA362313274NSD1c.4913G>A (p.Gly1638Glu)
c.428G>A (p.Gly143Glu)
n.5369G>A
n.535G>A
c.5477G>A (p.Gly1826Glu)
n.5183G>A
n.5933G>A
n.2705G>A
c.5786G>A (p.Gly1929Glu)
c.4979G>A (p.Gly1660Glu)
c.1280G>A (p.Gly427Glu)
c.5366G>A (p.Gly1789Glu)
c.4730G>A (p.Gly1577Glu)
c.1520G>A (p.Gly507Glu)
 gnomAD v4
5g.177280728G>CCA362313275NSD1c.4913G>C (p.Gly1638Ala)
c.428G>C (p.Gly143Ala)
n.5369G>C
n.535G>C
c.5477G>C (p.Gly1826Ala)
n.5183G>C
n.5933G>C
n.2705G>C
c.5786G>C (p.Gly1929Ala)
c.4979G>C (p.Gly1660Ala)
c.1280G>C (p.Gly427Ala)
c.5366G>C (p.Gly1789Ala)
c.4730G>C (p.Gly1577Ala)
c.1520G>C (p.Gly507Ala)
5g.177280728G>TCA362313279NSD1c.4913G>T (p.Gly1638Val)
c.428G>T (p.Gly143Val)
n.5369G>T
n.535G>T
c.5477G>T (p.Gly1826Val)
n.5183G>T
n.5933G>T
n.2705G>T
c.5786G>T (p.Gly1929Val)
c.4979G>T (p.Gly1660Val)
c.1280G>T (p.Gly427Val)
c.5366G>T (p.Gly1789Val)
c.4730G>T (p.Gly1577Val)
c.1520G>T (p.Gly507Val)
5g.177280729G>ACA447961357NSD1c.4914G>A (p.Gly1638=)
c.429G>A (p.Gly143=)
n.5370G>A
n.536G>A
c.5478G>A (p.Gly1826=)
n.5184G>A
n.5934G>A
n.2706G>A
c.5787G>A (p.Gly1929=)
c.4980G>A (p.Gly1660=)
c.1281G>A (p.Gly427=)
c.5367G>A (p.Gly1789=)
c.4731G>A (p.Gly1577=)
c.1521G>A (p.Gly507=)
 gnomAD v4
5g.177280729G>CCA447961358NSD1c.4914G>C (p.Gly1638=)
c.429G>C (p.Gly143=)
n.5370G>C
n.536G>C
c.5478G>C (p.Gly1826=)
n.5184G>C
n.5934G>C
n.2706G>C
c.5787G>C (p.Gly1929=)
c.4980G>C (p.Gly1660=)
c.1281G>C (p.Gly427=)
c.5367G>C (p.Gly1789=)
c.4731G>C (p.Gly1577=)
c.1521G>C (p.Gly507=)
5g.177280729G>TCA447961359NSD1c.4914G>T (p.Gly1638=)
c.429G>T (p.Gly143=)
n.5370G>T
n.536G>T
c.5478G>T (p.Gly1826=)
n.5184G>T
n.5934G>T
n.2706G>T
c.5787G>T (p.Gly1929=)
c.4980G>T (p.Gly1660=)
c.1281G>T (p.Gly427=)
c.5367G>T (p.Gly1789=)
c.4731G>T (p.Gly1577=)
c.1521G>T (p.Gly507=)
5g.177280730C>ACA362313286NSD1c.4915C>A (p.Arg1639Ser)
c.430C>A (p.Arg144Ser)
n.5371C>A
n.537C>A
c.5479C>A (p.Arg1827Ser)
n.5185C>A
n.5935C>A
n.2707C>A
c.5788C>A (p.Arg1930Ser)
c.4981C>A (p.Arg1661Ser)
c.1282C>A (p.Arg428Ser)
c.5368C>A (p.Arg1790Ser)
c.4732C>A (p.Arg1578Ser)
c.1522C>A (p.Arg508Ser)
 dbSNP
5g.177280730C=CA1603550524NSD1c.4915C= (p.Arg1639=)
c.430C= (p.Arg144=)
n.5371C=
n.537C=
c.5479C= (p.Arg1827=)
n.5185C=
n.5935C=
n.2707C=
c.5788C= (p.Arg1930=)
c.4981C= (p.Arg1661=)
c.1282C= (p.Arg428=)
c.5368C= (p.Arg1790=)
c.4732C= (p.Arg1578=)
c.1522C= (p.Arg508=)
5g.177280730C>GCA362313282NSD1c.4915C>G (p.Arg1639Gly)
c.430C>G (p.Arg144Gly)
n.5371C>G
n.537C>G
c.5479C>G (p.Arg1827Gly)
n.5185C>G
n.5935C>G
n.2707C>G
c.5788C>G (p.Arg1930Gly)
c.4981C>G (p.Arg1661Gly)
c.1282C>G (p.Arg428Gly)
c.5368C>G (p.Arg1790Gly)
c.4732C>G (p.Arg1578Gly)
c.1522C>G (p.Arg508Gly)
5g.177280730C>TCA362313283NSD1c.4915C>T (p.Arg1639Cys)
c.430C>T (p.Arg144Cys)
n.5371C>T
n.537C>T
c.5479C>T (p.Arg1827Cys)
n.5185C>T
n.5935C>T
n.2707C>T
c.5788C>T (p.Arg1930Cys)
c.4981C>T (p.Arg1661Cys)
c.1282C>T (p.Arg428Cys)
c.5368C>T (p.Arg1790Cys)
c.4732C>T (p.Arg1578Cys)
c.1522C>T (p.Arg508Cys)
 dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
5g.177280731G>ACA362313289NSD1c.4916G>A (p.Arg1639His)
c.431G>A (p.Arg144His)
n.5372G>A
n.538G>A
c.5480G>A (p.Arg1827His)
n.5186G>A
n.5936G>A
n.2708G>A
c.5789G>A (p.Arg1930His)
c.4982G>A (p.Arg1661His)
c.1283G>A (p.Arg428His)
c.5369G>A (p.Arg1790His)
c.4733G>A (p.Arg1578His)
c.1523G>A (p.Arg508His)
 ClinVar dbSNP gnomAD v4
5g.177280731G>CCA362313292NSD1c.4916G>C (p.Arg1639Pro)
c.431G>C (p.Arg144Pro)
n.5372G>C
n.538G>C
c.5480G>C (p.Arg1827Pro)
n.5186G>C
n.5936G>C
n.2708G>C
c.5789G>C (p.Arg1930Pro)
c.4982G>C (p.Arg1661Pro)
c.1283G>C (p.Arg428Pro)
c.5369G>C (p.Arg1790Pro)
c.4733G>C (p.Arg1578Pro)
c.1523G>C (p.Arg508Pro)
5g.177280731G=CA1603550527NSD1c.4916G= (p.Arg1639=)
c.431G= (p.Arg144=)
n.5372G=
n.538G=
c.5480G= (p.Arg1827=)
n.5186G=
n.5936G=
n.2708G=
c.5789G= (p.Arg1930=)
c.4982G= (p.Arg1661=)
c.1283G= (p.Arg428=)
c.5369G= (p.Arg1790=)
c.4733G= (p.Arg1578=)
c.1523G= (p.Arg508=)
5g.177280731G>TCA362313295NSD1c.4916G>T (p.Arg1639Leu)
c.431G>T (p.Arg144Leu)
n.5372G>T
n.538G>T
c.5480G>T (p.Arg1827Leu)
n.5186G>T
n.5936G>T
n.2708G>T
c.5789G>T (p.Arg1930Leu)
c.4982G>T (p.Arg1661Leu)
c.1283G>T (p.Arg428Leu)
c.5369G>T (p.Arg1790Leu)
c.4733G>T (p.Arg1578Leu)
c.1523G>T (p.Arg508Leu)
5g.177280732C>ACA447961366NSD1c.4917C>A (p.Arg1639=)
c.432C>A (p.Arg144=)
n.5373C>A
n.539C>A
c.5481C>A (p.Arg1827=)
n.5187C>A
n.5937C>A
n.2709C>A
c.5790C>A (p.Arg1930=)
c.4983C>A (p.Arg1661=)
c.1284C>A (p.Arg428=)
c.5370C>A (p.Arg1790=)
c.4734C>A (p.Arg1578=)
c.1524C>A (p.Arg508=)
5g.177280732C>GCA447961364NSD1c.4917C>G (p.Arg1639=)
c.432C>G (p.Arg144=)
n.5373C>G
n.539C>G
c.5481C>G (p.Arg1827=)
n.5187C>G
n.5937C>G
n.2709C>G
c.5790C>G (p.Arg1930=)
c.4983C>G (p.Arg1661=)
c.1284C>G (p.Arg428=)
c.5370C>G (p.Arg1790=)
c.4734C>G (p.Arg1578=)
c.1524C>G (p.Arg508=)
5g.177280732C>TCA447961363NSD1c.4917C>T (p.Arg1639=)
c.432C>T (p.Arg144=)
n.5373C>T
n.539C>T
c.5481C>T (p.Arg1827=)
n.5187C>T
n.5937C>T
n.2709C>T
c.5790C>T (p.Arg1930=)
c.4983C>T (p.Arg1661=)
c.1284C>T (p.Arg428=)
c.5370C>T (p.Arg1790=)
c.4734C>T (p.Arg1578=)
c.1524C>T (p.Arg508=)
 dbSNP
5g.177280732dupCA319698NSD1c.4917dup (p.Cys1640LeufsTer15)
c.432dup (p.Cys145LeufsTer15)
n.5373dup
n.539dup
c.5481dup (p.Cys1828LeufsTer15)
n.5187dup
n.5937dup
n.2709dup
c.5790dup (p.Cys1931LeufsTer15)
c.4983dup (p.Cys1662LeufsTer15)
c.1284dup (p.Cys429LeufsTer15)
c.5370dup (p.Cys1791LeufsTer15)
c.4734dup (p.Cys1579LeufsTer15)
c.1524dup (p.Cys509LeufsTer15)
 ClinVar dbSNP
5g.177280733T>ACA362313297NSD1c.4918T>A (p.Cys1640Ser)
c.433T>A (p.Cys145Ser)
n.5374T>A
n.540T>A
c.5482T>A (p.Cys1828Ser)
n.5188T>A
n.5938T>A
n.2710T>A
c.5791T>A (p.Cys1931Ser)
c.4984T>A (p.Cys1662Ser)
c.1285T>A (p.Cys429Ser)
c.5371T>A (p.Cys1791Ser)
c.4735T>A (p.Cys1579Ser)
c.1525T>A (p.Cys509Ser)
5g.177280733T>CCA362313300NSD1c.4918T>C (p.Cys1640Arg)
c.433T>C (p.Cys145Arg)
n.5374T>C
n.540T>C
c.5482T>C (p.Cys1828Arg)
n.5188T>C
n.5938T>C
n.2710T>C
c.5791T>C (p.Cys1931Arg)
c.4984T>C (p.Cys1662Arg)
c.1285T>C (p.Cys429Arg)
c.5371T>C (p.Cys1791Arg)
c.4735T>C (p.Cys1579Arg)
c.1525T>C (p.Cys509Arg)
 dbSNP gnomAD v2
5g.177280733T>GCA362313306NSD1c.4918T>G (p.Cys1640Gly)
c.433T>G (p.Cys145Gly)
n.5374T>G
n.540T>G
c.5482T>G (p.Cys1828Gly)
n.5188T>G
n.5938T>G
n.2710T>G
c.5791T>G (p.Cys1931Gly)
c.4984T>G (p.Cys1662Gly)
c.1285T>G (p.Cys429Gly)
c.5371T>G (p.Cys1791Gly)
c.4735T>G (p.Cys1579Gly)
c.1525T>G (p.Cys509Gly)
5g.177280733T=CA1603550536NSD1c.4918T= (p.Cys1640=)
c.433T= (p.Cys145=)
n.5374T=
n.540T=
c.5482T= (p.Cys1828=)
n.5188T=
n.5938T=
n.2710T=
c.5791T= (p.Cys1931=)
c.4984T= (p.Cys1662=)
c.1285T= (p.Cys429=)
c.5371T= (p.Cys1791=)
c.4735T= (p.Cys1579=)
c.1525T= (p.Cys509=)
5g.177280734G>ACA362313309NSD1c.4919G>A (p.Cys1640Tyr)
c.434G>A (p.Cys145Tyr)
n.5375G>A
n.541G>A
c.5483G>A (p.Cys1828Tyr)
n.5189G>A
n.5939G>A
n.2711G>A
c.5792G>A (p.Cys1931Tyr)
c.4985G>A (p.Cys1662Tyr)
c.1286G>A (p.Cys429Tyr)
c.5372G>A (p.Cys1791Tyr)
c.4736G>A (p.Cys1579Tyr)
c.1526G>A (p.Cys509Tyr)
 dbSNP
5g.177280734G>CCA362313311NSD1c.4919G>C (p.Cys1640Ser)
c.434G>C (p.Cys145Ser)
n.5375G>C
n.541G>C
c.5483G>C (p.Cys1828Ser)
n.5189G>C
n.5939G>C
n.2711G>C
c.5792G>C (p.Cys1931Ser)
c.4985G>C (p.Cys1662Ser)
c.1286G>C (p.Cys429Ser)
c.5372G>C (p.Cys1791Ser)
c.4736G>C (p.Cys1579Ser)
c.1526G>C (p.Cys509Ser)
5g.177280734G>TCA362313314NSD1c.4919G>T (p.Cys1640Phe)
c.434G>T (p.Cys145Phe)
n.5375G>T
n.541G>T
c.5483G>T (p.Cys1828Phe)
n.5189G>T
n.5939G>T
n.2711G>T
c.5792G>T (p.Cys1931Phe)
c.4985G>T (p.Cys1662Phe)
c.1286G>T (p.Cys429Phe)
c.5372G>T (p.Cys1791Phe)
c.4736G>T (p.Cys1579Phe)
c.1526G>T (p.Cys509Phe)
5g.177280735T>ACA362313318NSD1c.4920T>A (p.Cys1640Ter)
c.435T>A (p.Cys145Ter)
n.5376T>A
n.542T>A
c.5484T>A (p.Cys1828Ter)
n.5190T>A
n.5940T>A
n.2712T>A
c.5793T>A (p.Cys1931Ter)
c.4986T>A (p.Cys1662Ter)
c.1287T>A (p.Cys429Ter)
c.5373T>A (p.Cys1791Ter)
c.4737T>A (p.Cys1579Ter)
c.1527T>A (p.Cys509Ter)
 dbSNP
5g.177280735T>CCA447961369NSD1c.4920T>C (p.Cys1640=)
c.435T>C (p.Cys145=)
n.5376T>C
n.542T>C
c.5484T>C (p.Cys1828=)
n.5190T>C
n.5940T>C
n.2712T>C
c.5793T>C (p.Cys1931=)
c.4986T>C (p.Cys1662=)
c.1287T>C (p.Cys429=)
c.5373T>C (p.Cys1791=)
c.4737T>C (p.Cys1579=)
c.1527T>C (p.Cys509=)
5g.177280735T>GCA362313320NSD1c.4920T>G (p.Cys1640Trp)
c.435T>G (p.Cys145Trp)
n.5376T>G
n.542T>G
c.5484T>G (p.Cys1828Trp)
n.5190T>G
n.5940T>G
n.2712T>G
c.5793T>G (p.Cys1931Trp)
c.4986T>G (p.Cys1662Trp)
c.1287T>G (p.Cys429Trp)
c.5373T>G (p.Cys1791Trp)
c.4737T>G (p.Cys1579Trp)
c.1527T>G (p.Cys509Trp)
5g.177280736C>ACA362313329NSD1c.4921C>A (p.Gln1641Lys)
c.436C>A (p.Gln146Lys)
n.5377C>A
n.543C>A
c.5485C>A (p.Gln1829Lys)
n.5191C>A
n.5941C>A
n.2713C>A
c.5794C>A (p.Gln1932Lys)
c.4987C>A (p.Gln1663Lys)
c.1288C>A (p.Gln430Lys)
c.5374C>A (p.Gln1792Lys)
c.4738C>A (p.Gln1580Lys)
c.1528C>A (p.Gln510Lys)
5g.177280736C>GCA362313327NSD1c.4921C>G (p.Gln1641Glu)
c.436C>G (p.Gln146Glu)
n.5377C>G
n.543C>G
c.5485C>G (p.Gln1829Glu)
n.5191C>G
n.5941C>G
n.2713C>G
c.5794C>G (p.Gln1932Glu)
c.4987C>G (p.Gln1663Glu)
c.1288C>G (p.Gln430Glu)
c.5374C>G (p.Gln1792Glu)
c.4738C>G (p.Gln1580Glu)
c.1528C>G (p.Gln510Glu)
5g.177280736C>TCA362313324NSD1c.4921C>T (p.Gln1641Ter)
c.436C>T (p.Gln146Ter)
n.5377C>T
n.543C>T
c.5485C>T (p.Gln1829Ter)
n.5191C>T
n.5941C>T
n.2713C>T
c.5794C>T (p.Gln1932Ter)
c.4987C>T (p.Gln1663Ter)
c.1288C>T (p.Gln430Ter)
c.5374C>T (p.Gln1792Ter)
c.4738C>T (p.Gln1580Ter)
c.1528C>T (p.Gln510Ter)
5g.177280737A>CCA362313332NSD1c.4922A>C (p.Gln1641Pro)
c.437A>C (p.Gln146Pro)
n.5378A>C
n.544A>C
c.5486A>C (p.Gln1829Pro)
n.5192A>C
n.5942A>C
n.2714A>C
c.5795A>C (p.Gln1932Pro)
c.4988A>C (p.Gln1663Pro)
c.1289A>C (p.Gln430Pro)
c.5375A>C (p.Gln1792Pro)
c.4739A>C (p.Gln1580Pro)
c.1529A>C (p.Gln510Pro)
5g.177280737A>GCA362313335NSD1c.4922A>G (p.Gln1641Arg)
c.437A>G (p.Gln146Arg)
n.5378A>G
n.544A>G
c.5486A>G (p.Gln1829Arg)
n.5192A>G
n.5942A>G
n.2714A>G
c.5795A>G (p.Gln1932Arg)
c.4988A>G (p.Gln1663Arg)
c.1289A>G (p.Gln430Arg)
c.5375A>G (p.Gln1792Arg)
c.4739A>G (p.Gln1580Arg)
c.1529A>G (p.Gln510Arg)
5g.177280737A>TCA362313339NSD1c.4922A>T (p.Gln1641Leu)
c.437A>T (p.Gln146Leu)
n.5378A>T
n.544A>T
c.5486A>T (p.Gln1829Leu)
n.5192A>T
n.5942A>T
n.2714A>T
c.5795A>T (p.Gln1932Leu)
c.4988A>T (p.Gln1663Leu)
c.1289A>T (p.Gln430Leu)
c.5375A>T (p.Gln1792Leu)
c.4739A>T (p.Gln1580Leu)
c.1529A>T (p.Gln510Leu)
5g.177280738A>CCA362313343NSD1c.4923A>C (p.Gln1641His)
c.438A>C (p.Gln146His)
n.5379A>C
n.545A>C
c.5487A>C (p.Gln1829His)
n.5193A>C
n.5943A>C
n.2715A>C
c.5796A>C (p.Gln1932His)
c.4989A>C (p.Gln1663His)
c.1290A>C (p.Gln430His)
c.5376A>C (p.Gln1792His)
c.4740A>C (p.Gln1580His)
c.1530A>C (p.Gln510His)
5g.177280738A>GCA447961375NSD1c.4923A>G (p.Gln1641=)
c.438A>G (p.Gln146=)
n.5379A>G
n.545A>G
c.5487A>G (p.Gln1829=)
n.5193A>G
n.5943A>G
n.2715A>G
c.5796A>G (p.Gln1932=)
c.4989A>G (p.Gln1663=)
c.1290A>G (p.Gln430=)
c.5376A>G (p.Gln1792=)
c.4740A>G (p.Gln1580=)
c.1530A>G (p.Gln510=)
5g.177280738A>TCA362313346NSD1c.4923A>T (p.Gln1641His)
c.438A>T (p.Gln146His)
n.5379A>T
n.545A>T
c.5487A>T (p.Gln1829His)
n.5193A>T
n.5943A>T
n.2715A>T
c.5796A>T (p.Gln1932His)
c.4989A>T (p.Gln1663His)
c.1290A>T (p.Gln430His)
c.5376A>T (p.Gln1792His)
c.4740A>T (p.Gln1580His)
c.1530A>T (p.Gln510His)
5g.177280739A>CCA362313347NSD1c.4924A>C (p.Asn1642His)
c.439A>C (p.Asn147His)
n.5380A>C
n.546A>C
c.5488A>C (p.Asn1830His)
n.5194A>C
n.5944A>C
n.2716A>C
c.5797A>C (p.Asn1933His)
c.4990A>C (p.Asn1664His)
c.1291A>C (p.Asn431His)
c.5377A>C (p.Asn1793His)
c.4741A>C (p.Asn1581His)
c.1531A>C (p.Asn511His)
 COSMIC COSMIC
5g.177280739A>GCA362313351NSD1c.4924A>G (p.Asn1642Asp)
c.439A>G (p.Asn147Asp)
n.5380A>G
n.546A>G
c.5488A>G (p.Asn1830Asp)
n.5194A>G
n.5944A>G
n.2716A>G
c.5797A>G (p.Asn1933Asp)
c.4990A>G (p.Asn1664Asp)
c.1291A>G (p.Asn431Asp)
c.5377A>G (p.Asn1793Asp)
c.4741A>G (p.Asn1581Asp)
c.1531A>G (p.Asn511Asp)
5g.177280739A>TCA362313353NSD1c.4924A>T (p.Asn1642Tyr)
c.439A>T (p.Asn147Tyr)
n.5380A>T
n.546A>T
c.5488A>T (p.Asn1830Tyr)
n.5194A>T
n.5944A>T
n.2716A>T
c.5797A>T (p.Asn1933Tyr)
c.4990A>T (p.Asn1664Tyr)
c.1291A>T (p.Asn431Tyr)
c.5377A>T (p.Asn1793Tyr)
c.4741A>T (p.Asn1581Tyr)
c.1531A>T (p.Asn511Tyr)
5g.177280740A=CA1603550541NSD1c.4925A= (p.Asn1642=)
c.440A= (p.Asn147=)
n.5381A=
n.547A=
c.5489A= (p.Asn1830=)
n.5195A=
n.5945A=
n.2717A=
c.5798A= (p.Asn1933=)
c.4991A= (p.Asn1664=)
c.1292A= (p.Asn431=)
c.5378A= (p.Asn1793=)
c.4742A= (p.Asn1581=)
c.1532A= (p.Asn511=)
5g.177280740A>CCA362313355NSD1c.4925A>C (p.Asn1642Thr)
c.440A>C (p.Asn147Thr)
n.5381A>C
n.547A>C
c.5489A>C (p.Asn1830Thr)
n.5195A>C
n.5945A>C
n.2717A>C
c.5798A>C (p.Asn1933Thr)
c.4991A>C (p.Asn1664Thr)
c.1292A>C (p.Asn431Thr)
c.5378A>C (p.Asn1793Thr)
c.4742A>C (p.Asn1581Thr)
c.1532A>C (p.Asn511Thr)
5g.177280740A>GCA294980NSD1c.4925A>G (p.Asn1642Ser)
c.440A>G (p.Asn147Ser)
n.5381A>G
n.547A>G
c.5489A>G (p.Asn1830Ser)
n.5195A>G
n.5945A>G
n.2717A>G
c.5798A>G (p.Asn1933Ser)
c.4991A>G (p.Asn1664Ser)
c.1292A>G (p.Asn431Ser)
c.5378A>G (p.Asn1793Ser)
c.4742A>G (p.Asn1581Ser)
c.1532A>G (p.Asn511Ser)
 ClinVar dbSNP
5g.177280740A>TCA362313359NSD1c.4925A>T (p.Asn1642Ile)
c.440A>T (p.Asn147Ile)
n.5381A>T
n.547A>T
c.5489A>T (p.Asn1830Ile)
n.5195A>T
n.5945A>T
n.2717A>T
c.5798A>T (p.Asn1933Ile)
c.4991A>T (p.Asn1664Ile)
c.1292A>T (p.Asn431Ile)
c.5378A>T (p.Asn1793Ile)
c.4742A>T (p.Asn1581Ile)
c.1532A>T (p.Asn511Ile)
5g.177280741C>ACA362313362NSD1c.4926C>A (p.Asn1642Lys)
c.441C>A (p.Asn147Lys)
n.5382C>A
n.548C>A
c.5490C>A (p.Asn1830Lys)
n.5196C>A
n.5946C>A
n.2718C>A
c.5799C>A (p.Asn1933Lys)
c.4992C>A (p.Asn1664Lys)
c.1293C>A (p.Asn431Lys)
c.5379C>A (p.Asn1793Lys)
c.4743C>A (p.Asn1581Lys)
c.1533C>A (p.Asn511Lys)
 ClinVar dbSNP
5g.177280741C=CA1603550552NSD1c.4926C= (p.Asn1642=)
c.441C= (p.Asn147=)
n.5382C=
n.548C=
c.5490C= (p.Asn1830=)
n.5196C=
n.5946C=
n.2718C=
c.5799C= (p.Asn1933=)
c.4992C= (p.Asn1664=)
c.1293C= (p.Asn431=)
c.5379C= (p.Asn1793=)
c.4743C= (p.Asn1581=)
c.1533C= (p.Asn511=)
5g.177280741C>GCA362313364NSD1c.4926C>G (p.Asn1642Lys)
c.441C>G (p.Asn147Lys)
n.5382C>G
n.548C>G
c.5490C>G (p.Asn1830Lys)
n.5196C>G
n.5946C>G
n.2718C>G
c.5799C>G (p.Asn1933Lys)
c.4992C>G (p.Asn1664Lys)
c.1293C>G (p.Asn431Lys)
c.5379C>G (p.Asn1793Lys)
c.4743C>G (p.Asn1581Lys)
c.1533C>G (p.Asn511Lys)
 dbSNP
5g.177280741C>TCA447961381NSD1c.4926C>T (p.Asn1642=)
c.441C>T (p.Asn147=)
n.5382C>T
n.548C>T
c.5490C>T (p.Asn1830=)
n.5196C>T
n.5946C>T
n.2718C>T
c.5799C>T (p.Asn1933=)
c.4992C>T (p.Asn1664=)
c.1293C>T (p.Asn431=)
c.5379C>T (p.Asn1793=)
c.4743C>T (p.Asn1581=)
c.1533C>T (p.Asn511=)
5g.177280742C>ACA362313368NSD1c.4927C>A (p.Gln1643Lys)
c.442C>A (p.Gln148Lys)
n.5383C>A
n.549C>A
c.5491C>A (p.Gln1831Lys)
n.5197C>A
n.5947C>A
n.2719C>A
c.5800C>A (p.Gln1934Lys)
c.4993C>A (p.Gln1665Lys)
c.1294C>A (p.Gln432Lys)
c.5380C>A (p.Gln1794Lys)
c.4744C>A (p.Gln1582Lys)
c.1534C>A (p.Gln512Lys)
5g.177280742C=CA1603550559NSD1c.4927C= (p.Gln1643=)
c.442C= (p.Gln148=)
n.5383C=
n.549C=
c.5491C= (p.Gln1831=)
n.5197C=
n.5947C=
n.2719C=
c.5800C= (p.Gln1934=)
c.4993C= (p.Gln1665=)
c.1294C= (p.Gln432=)
c.5380C= (p.Gln1794=)
c.4744C= (p.Gln1582=)
c.1534C= (p.Gln512=)
5g.177280742C>GCA362313372NSD1c.4927C>G (p.Gln1643Glu)
c.442C>G (p.Gln148Glu)
n.5383C>G
n.549C>G
c.5491C>G (p.Gln1831Glu)
n.5197C>G
n.5947C>G
n.2719C>G
c.5800C>G (p.Gln1934Glu)
c.4993C>G (p.Gln1665Glu)
c.1294C>G (p.Gln432Glu)
c.5380C>G (p.Gln1794Glu)
c.4744C>G (p.Gln1582Glu)
c.1534C>G (p.Gln512Glu)
 dbSNP
5g.177280742C>TCA294983NSD1c.4927C>T (p.Gln1643Ter)
c.442C>T (p.Gln148Ter)
n.5383C>T
n.549C>T
c.5491C>T (p.Gln1831Ter)
n.5197C>T
n.5947C>T
n.2719C>T
c.5800C>T (p.Gln1934Ter)
c.4993C>T (p.Gln1665Ter)
c.1294C>T (p.Gln432Ter)
c.5380C>T (p.Gln1794Ter)
c.4744C>T (p.Gln1582Ter)
c.1534C>T (p.Gln512Ter)
 ClinVar dbSNP
5g.177280743A>CCA362313375NSD1c.4928A>C (p.Gln1643Pro)
c.443A>C (p.Gln148Pro)
n.5384A>C
n.550A>C
c.5492A>C (p.Gln1831Pro)
n.5198A>C
n.5948A>C
n.2720A>C
c.5801A>C (p.Gln1934Pro)
c.4994A>C (p.Gln1665Pro)
c.1295A>C (p.Gln432Pro)
c.5381A>C (p.Gln1794Pro)
c.4745A>C (p.Gln1582Pro)
c.1535A>C (p.Gln512Pro)
5g.177280743A>GCA362313378NSD1c.4928A>G (p.Gln1643Arg)
c.443A>G (p.Gln148Arg)
n.5384A>G
n.550A>G
c.5492A>G (p.Gln1831Arg)
n.5198A>G
n.5948A>G
n.2720A>G
c.5801A>G (p.Gln1934Arg)
c.4994A>G (p.Gln1665Arg)
c.1295A>G (p.Gln432Arg)
c.5381A>G (p.Gln1794Arg)
c.4745A>G (p.Gln1582Arg)
c.1535A>G (p.Gln512Arg)
5g.177280743A>TCA362313380NSD1c.4928A>T (p.Gln1643Leu)
c.443A>T (p.Gln148Leu)
n.5384A>T
n.550A>T
c.5492A>T (p.Gln1831Leu)
n.5198A>T
n.5948A>T
n.2720A>T
c.5801A>T (p.Gln1934Leu)
c.4994A>T (p.Gln1665Leu)
c.1295A>T (p.Gln432Leu)
c.5381A>T (p.Gln1794Leu)
c.4745A>T (p.Gln1582Leu)
c.1535A>T (p.Gln512Leu)
5g.177280744G>ACA447961385NSD1c.4929G>A (p.Gln1643=)
c.444G>A (p.Gln148=)
n.5385G>A
n.551G>A
c.5493G>A (p.Gln1831=)
n.5199G>A
n.5949G>A
n.2721G>A
c.5802G>A (p.Gln1934=)
c.4995G>A (p.Gln1665=)
c.1296G>A (p.Gln432=)
c.5382G>A (p.Gln1794=)
c.4746G>A (p.Gln1582=)
c.1536G>A (p.Gln512=)
5g.177280744G>CCA362313381NSD1c.4929G>C (p.Gln1643His)
c.444G>C (p.Gln148His)
n.5385G>C
n.551G>C
c.5493G>C (p.Gln1831His)
n.5199G>C
n.5949G>C
n.2721G>C
c.5802G>C (p.Gln1934His)
c.4995G>C (p.Gln1665His)
c.1296G>C (p.Gln432His)
c.5382G>C (p.Gln1794His)
c.4746G>C (p.Gln1582His)
c.1536G>C (p.Gln512His)
5g.177280744G>TCA362313382NSD1c.4929G>T (p.Gln1643His)
c.444G>T (p.Gln148His)
n.5385G>T
n.551G>T
c.5493G>T (p.Gln1831His)
n.5199G>T
n.5949G>T
n.2721G>T
c.5802G>T (p.Gln1934His)
c.4995G>T (p.Gln1665His)
c.1296G>T (p.Gln432His)
c.5382G>T (p.Gln1794His)
c.4746G>T (p.Gln1582His)
c.1536G>T (p.Gln512His)
5g.177280745T>ACA362313383NSD1c.4930T>A (p.Cys1644Ser)
c.445T>A (p.Cys149Ser)
n.5386T>A
n.552T>A
c.5494T>A (p.Cys1832Ser)
n.5200T>A
n.5950T>A
n.2722T>A
c.5803T>A (p.Cys1935Ser)
c.4996T>A (p.Cys1666Ser)
c.1297T>A (p.Cys433Ser)
c.5383T>A (p.Cys1795Ser)
c.4747T>A (p.Cys1583Ser)
c.1537T>A (p.Cys513Ser)
5g.177280745T>CCA362313385NSD1c.4930T>C (p.Cys1644Arg)
c.445T>C (p.Cys149Arg)
n.5386T>C
n.552T>C
c.5494T>C (p.Cys1832Arg)
n.5200T>C
n.5950T>C
n.2722T>C
c.5803T>C (p.Cys1935Arg)
c.4996T>C (p.Cys1666Arg)
c.1297T>C (p.Cys433Arg)
c.5383T>C (p.Cys1795Arg)
c.4747T>C (p.Cys1583Arg)
c.1537T>C (p.Cys513Arg)
5g.177280745T>GCA362313387NSD1c.4930T>G (p.Cys1644Gly)
c.445T>G (p.Cys149Gly)
n.5386T>G
n.552T>G
c.5494T>G (p.Cys1832Gly)
n.5200T>G
n.5950T>G
n.2722T>G
c.5803T>G (p.Cys1935Gly)
c.4996T>G (p.Cys1666Gly)
c.1297T>G (p.Cys433Gly)
c.5383T>G (p.Cys1795Gly)
c.4747T>G (p.Cys1583Gly)
c.1537T>G (p.Cys513Gly)
5g.177280746G>ACA362313391NSD1c.4931G>A (p.Cys1644Tyr)
c.446G>A (p.Cys149Tyr)
n.5387G>A
n.553G>A
c.5495G>A (p.Cys1832Tyr)
n.5201G>A
n.5951G>A
n.2723G>A
c.5804G>A (p.Cys1935Tyr)
c.4997G>A (p.Cys1666Tyr)
c.1298G>A (p.Cys433Tyr)
c.5384G>A (p.Cys1795Tyr)
c.4748G>A (p.Cys1583Tyr)
c.1538G>A (p.Cys513Tyr)
5g.177280746G>CCA362313395NSD1c.4931G>C (p.Cys1644Ser)
c.446G>C (p.Cys149Ser)
n.5387G>C
n.553G>C
c.5495G>C (p.Cys1832Ser)
n.5201G>C
n.5951G>C
n.2723G>C
c.5804G>C (p.Cys1935Ser)
c.4997G>C (p.Cys1666Ser)
c.1298G>C (p.Cys433Ser)
c.5384G>C (p.Cys1795Ser)
c.4748G>C (p.Cys1583Ser)
c.1538G>C (p.Cys513Ser)
5g.177280746G>TCA362313397NSD1c.4931G>T (p.Cys1644Phe)
c.446G>T (p.Cys149Phe)
n.5387G>T
n.553G>T
c.5495G>T (p.Cys1832Phe)
n.5201G>T
n.5951G>T
n.2723G>T
c.5804G>T (p.Cys1935Phe)
c.4997G>T (p.Cys1666Phe)
c.1298G>T (p.Cys433Phe)
c.5384G>T (p.Cys1795Phe)
c.4748G>T (p.Cys1583Phe)
c.1538G>T (p.Cys513Phe)

Number of alleles fetched