Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.177282472_177282479delCA2695205722NSD1c.5027_5034del (p.Phe1676Ter)
c.542_549del (p.Phe181Ter)
n.5483_5490del
c.5591_5598del (p.Phe1864Ter)
n.5297_5304del
n.6047_6054del
n.4449_4456del
c.5900_5907del (p.Phe1967Ter)
c.5093_5100del (p.Phe1698Ter)
c.1394_1401del (p.Phe465Ter)
c.5480_5487del (p.Phe1827Ter)
c.4844_4851del (p.Phe1615Ter)
c.1634_1641del (p.Phe545Ter)
5g.177282476G>ACA447737130NSD1c.5031G>A (p.Val1677=)
c.546G>A (p.Val182=)
n.5487G>A
c.5595G>A (p.Val1865=)
n.5301G>A
n.6051G>A
n.4453G>A
c.5904G>A (p.Val1968=)
c.5097G>A (p.Val1699=)
c.1398G>A (p.Val466=)
c.5484G>A (p.Val1828=)
c.4848G>A (p.Val1616=)
c.1638G>A (p.Val546=)
 dbSNP
5g.177282476G>CCA447737131NSD1c.5031G>C (p.Val1677=)
c.546G>C (p.Val182=)
n.5487G>C
c.5595G>C (p.Val1865=)
n.5301G>C
n.6051G>C
n.4453G>C
c.5904G>C (p.Val1968=)
c.5097G>C (p.Val1699=)
c.1398G>C (p.Val466=)
c.5484G>C (p.Val1828=)
c.4848G>C (p.Val1616=)
c.1638G>C (p.Val546=)
 dbSNP
5g.177282476G>TCA447737133NSD1c.5031G>T (p.Val1677=)
c.546G>T (p.Val182=)
n.5487G>T
c.5595G>T (p.Val1865=)
n.5301G>T
n.6051G>T
n.4453G>T
c.5904G>T (p.Val1968=)
c.5097G>T (p.Val1699=)
c.1398G>T (p.Val466=)
c.5484G>T (p.Val1828=)
c.4848G>T (p.Val1616=)
c.1638G>T (p.Val546=)
5g.177282477A>CCA362314412NSD1c.5032A>C (p.Asn1678His)
c.547A>C (p.Asn183His)
n.5488A>C
c.5596A>C (p.Asn1866His)
n.5302A>C
n.6052A>C
n.4454A>C
c.5905A>C (p.Asn1969His)
c.5098A>C (p.Asn1700His)
c.1399A>C (p.Asn467His)
c.5485A>C (p.Asn1829His)
c.4849A>C (p.Asn1617His)
c.1639A>C (p.Asn547His)
5g.177282477A>GCA362314415NSD1c.5032A>G (p.Asn1678Asp)
c.547A>G (p.Asn183Asp)
n.5488A>G
c.5596A>G (p.Asn1866Asp)
n.5302A>G
n.6052A>G
n.4454A>G
c.5905A>G (p.Asn1969Asp)
c.5098A>G (p.Asn1700Asp)
c.1399A>G (p.Asn467Asp)
c.5485A>G (p.Asn1829Asp)
c.4849A>G (p.Asn1617Asp)
c.1639A>G (p.Asn547Asp)
5g.177282477A>TCA362314417NSD1c.5032A>T (p.Asn1678Tyr)
c.547A>T (p.Asn183Tyr)
n.5488A>T
c.5596A>T (p.Asn1866Tyr)
n.5302A>T
n.6052A>T
n.4454A>T
c.5905A>T (p.Asn1969Tyr)
c.5098A>T (p.Asn1700Tyr)
c.1399A>T (p.Asn467Tyr)
c.5485A>T (p.Asn1829Tyr)
c.4849A>T (p.Asn1617Tyr)
c.1639A>T (p.Asn547Tyr)
5g.177282478A>CCA362314434NSD1c.5033A>C (p.Asn1678Thr)
c.548A>C (p.Asn183Thr)
n.5489A>C
c.5597A>C (p.Asn1866Thr)
n.5303A>C
n.6053A>C
n.4455A>C
c.5906A>C (p.Asn1969Thr)
c.5099A>C (p.Asn1700Thr)
c.1400A>C (p.Asn467Thr)
c.5486A>C (p.Asn1829Thr)
c.4850A>C (p.Asn1617Thr)
c.1640A>C (p.Asn547Thr)
5g.177282478A>GCA362314421NSD1c.5033A>G (p.Asn1678Ser)
c.548A>G (p.Asn183Ser)
n.5489A>G
c.5597A>G (p.Asn1866Ser)
n.5303A>G
n.6053A>G
n.4455A>G
c.5906A>G (p.Asn1969Ser)
c.5099A>G (p.Asn1700Ser)
c.1400A>G (p.Asn467Ser)
c.5486A>G (p.Asn1829Ser)
c.4850A>G (p.Asn1617Ser)
c.1640A>G (p.Asn547Ser)
5g.177282478A>TCA362314424NSD1c.5033A>T (p.Asn1678Ile)
c.548A>T (p.Asn183Ile)
n.5489A>T
c.5597A>T (p.Asn1866Ile)
n.5303A>T
n.6053A>T
n.4455A>T
c.5906A>T (p.Asn1969Ile)
c.5099A>T (p.Asn1700Ile)
c.1400A>T (p.Asn467Ile)
c.5486A>T (p.Asn1829Ile)
c.4850A>T (p.Asn1617Ile)
c.1640A>T (p.Asn547Ile)
 dbSNP
5g.177282479T>ACA362314438NSD1c.5034T>A (p.Asn1678Lys)
c.549T>A (p.Asn183Lys)
n.5490T>A
c.5598T>A (p.Asn1866Lys)
n.5304T>A
n.6054T>A
n.4456T>A
c.5907T>A (p.Asn1969Lys)
c.5100T>A (p.Asn1700Lys)
c.1401T>A (p.Asn467Lys)
c.5487T>A (p.Asn1829Lys)
c.4851T>A (p.Asn1617Lys)
c.1641T>A (p.Asn547Lys)
 dbSNP
5g.177282479T>CCA447737139NSD1c.5034T>C (p.Asn1678=)
c.549T>C (p.Asn183=)
n.5490T>C
c.5598T>C (p.Asn1866=)
n.5304T>C
n.6054T>C
n.4456T>C
c.5907T>C (p.Asn1969=)
c.5100T>C (p.Asn1700=)
c.1401T>C (p.Asn467=)
c.5487T>C (p.Asn1829=)
c.4851T>C (p.Asn1617=)
c.1641T>C (p.Asn547=)
 dbSNP
5g.177282479T>GCA362314443NSD1c.5034T>G (p.Asn1678Lys)
c.549T>G (p.Asn183Lys)
n.5490T>G
c.5598T>G (p.Asn1866Lys)
n.5304T>G
n.6054T>G
n.4456T>G
c.5907T>G (p.Asn1969Lys)
c.5100T>G (p.Asn1700Lys)
c.1401T>G (p.Asn467Lys)
c.5487T>G (p.Asn1829Lys)
c.4851T>G (p.Asn1617Lys)
c.1641T>G (p.Asn547Lys)
5g.177282479dupCA2695205725NSD1c.5034dup (p.Glu1679Ter)
c.549dup (p.Glu184Ter)
n.5490dup
c.5598dup (p.Glu1867Ter)
n.5304dup
n.6054dup
n.4456dup
c.5907dup (p.Glu1970Ter)
c.5100dup (p.Glu1701Ter)
c.1401dup (p.Glu468Ter)
c.5487dup (p.Glu1830Ter)
c.4851dup (p.Glu1618Ter)
c.1641dup (p.Glu548Ter)
5g.177282480_177282483delCA2695205726NSD1c.5035_5038del (p.Glu1679MetfsTer6)
c.550_553del (p.Glu184MetfsTer6)
n.5491_5494del
c.5599_5602del (p.Glu1867MetfsTer6)
n.5305_5308del
n.6055_6058del
n.4457_4460del
c.5908_5911del (p.Glu1970MetfsTer6)
c.5101_5104del (p.Glu1701MetfsTer6)
c.1402_1405del (p.Glu468MetfsTer6)
c.5488_5491del (p.Glu1830MetfsTer6)
c.4852_4855del (p.Glu1618MetfsTer6)
c.1642_1645del (p.Glu548MetfsTer6)
5g.177282479_177282480insACA2582341659NSD1c.5034_5035insA (p.Glu1679ArgfsTer5)
c.549_550insA (p.Glu184ArgfsTer5)
n.5490_5491insA
c.5598_5599insA (p.Glu1867ArgfsTer5)
n.5304_5305insA
n.6054_6055insA
n.4456_4457insA
c.5907_5908insA (p.Glu1970ArgfsTer5)
c.5100_5101insA (p.Glu1701ArgfsTer5)
c.1401_1402insA (p.Glu468ArgfsTer5)
c.5487_5488insA (p.Glu1830ArgfsTer5)
c.4851_4852insA (p.Glu1618ArgfsTer5)
c.1641_1642insA (p.Glu548ArgfsTer5)
 ClinVar
5g.177282480G>ACA362315688NSD1c.5035G>A (p.Glu1679Lys)
c.550G>A (p.Glu184Lys)
n.5491G>A
c.5599G>A (p.Glu1867Lys)
n.5305G>A
n.6055G>A
n.4457G>A
c.5908G>A (p.Glu1970Lys)
c.5101G>A (p.Glu1701Lys)
c.1402G>A (p.Glu468Lys)
c.5488G>A (p.Glu1830Lys)
c.4852G>A (p.Glu1618Lys)
c.1642G>A (p.Glu548Lys)
5g.177282480G>CCA362315691NSD1c.5035G>C (p.Glu1679Gln)
c.550G>C (p.Glu184Gln)
n.5491G>C
c.5599G>C (p.Glu1867Gln)
n.5305G>C
n.6055G>C
n.4457G>C
c.5908G>C (p.Glu1970Gln)
c.5101G>C (p.Glu1701Gln)
c.1402G>C (p.Glu468Gln)
c.5488G>C (p.Glu1830Gln)
c.4852G>C (p.Glu1618Gln)
c.1642G>C (p.Glu548Gln)
 dbSNP
5g.177282480G>TCA362315692NSD1c.5035G>T (p.Glu1679Ter)
c.550G>T (p.Glu184Ter)
n.5491G>T
c.5599G>T (p.Glu1867Ter)
n.5305G>T
n.6055G>T
n.4457G>T
c.5908G>T (p.Glu1970Ter)
c.5101G>T (p.Glu1701Ter)
c.1402G>T (p.Glu468Ter)
c.5488G>T (p.Glu1830Ter)
c.4852G>T (p.Glu1618Ter)
c.1642G>T (p.Glu548Ter)
5g.177282481A>CCA362315695NSD1c.5036A>C (p.Glu1679Ala)
c.551A>C (p.Glu184Ala)
n.5492A>C
c.5600A>C (p.Glu1867Ala)
n.5306A>C
n.6056A>C
n.4458A>C
c.5909A>C (p.Glu1970Ala)
c.5102A>C (p.Glu1701Ala)
c.1403A>C (p.Glu468Ala)
c.5489A>C (p.Glu1830Ala)
c.4853A>C (p.Glu1618Ala)
c.1643A>C (p.Glu548Ala)
5g.177282481A>GCA362315698NSD1c.5036A>G (p.Glu1679Gly)
c.551A>G (p.Glu184Gly)
n.5492A>G
c.5600A>G (p.Glu1867Gly)
n.5306A>G
n.6056A>G
n.4458A>G
c.5909A>G (p.Glu1970Gly)
c.5102A>G (p.Glu1701Gly)
c.1403A>G (p.Glu468Gly)
c.5489A>G (p.Glu1830Gly)
c.4853A>G (p.Glu1618Gly)
c.1643A>G (p.Glu548Gly)
 dbSNP
5g.177282481A>TCA362315701NSD1c.5036A>T (p.Glu1679Val)
c.551A>T (p.Glu184Val)
n.5492A>T
c.5600A>T (p.Glu1867Val)
n.5306A>T
n.6056A>T
n.4458A>T
c.5909A>T (p.Glu1970Val)
c.5102A>T (p.Glu1701Val)
c.1403A>T (p.Glu468Val)
c.5489A>T (p.Glu1830Val)
c.4853A>T (p.Glu1618Val)
c.1643A>T (p.Glu548Val)
 dbSNP
5g.177282482G>ACA447737355NSD1c.5037G>A (p.Glu1679=)
c.552G>A (p.Glu184=)
n.5493G>A
c.5601G>A (p.Glu1867=)
n.5307G>A
n.6057G>A
n.4459G>A
c.5910G>A (p.Glu1970=)
c.5103G>A (p.Glu1701=)
c.1404G>A (p.Glu468=)
c.5490G>A (p.Glu1830=)
c.4854G>A (p.Glu1618=)
c.1644G>A (p.Glu548=)
5g.177282482G>CCA362315704NSD1c.5037G>C (p.Glu1679Asp)
c.552G>C (p.Glu184Asp)
n.5493G>C
c.5601G>C (p.Glu1867Asp)
n.5307G>C
n.6057G>C
n.4459G>C
c.5910G>C (p.Glu1970Asp)
c.5103G>C (p.Glu1701Asp)
c.1404G>C (p.Glu468Asp)
c.5490G>C (p.Glu1830Asp)
c.4854G>C (p.Glu1618Asp)
c.1644G>C (p.Glu548Asp)
 ClinVar dbSNP COSMIC COSMIC
5g.177282482G=CA1603552003NSD1c.5037G= (p.Glu1679=)
c.552G= (p.Glu184=)
n.5493G=
c.5601G= (p.Glu1867=)
n.5307G=
n.6057G=
n.4459G=
c.5910G= (p.Glu1970=)
c.5103G= (p.Glu1701=)
c.1404G= (p.Glu468=)
c.5490G= (p.Glu1830=)
c.4854G= (p.Glu1618=)
c.1644G= (p.Glu548=)
5g.177282482G>TCA362315706NSD1c.5037G>T (p.Glu1679Asp)
c.552G>T (p.Glu184Asp)
n.5493G>T
c.5601G>T (p.Glu1867Asp)
n.5307G>T
n.6057G>T
n.4459G>T
c.5910G>T (p.Glu1970Asp)
c.5103G>T (p.Glu1701Asp)
c.1404G>T (p.Glu468Asp)
c.5490G>T (p.Glu1830Asp)
c.4854G>T (p.Glu1618Asp)
c.1644G>T (p.Glu548Asp)
5g.177282482_177282483delinsGTCA1603551999NSD1c.5037_5038delinsGT (p.Glu1679=)
c.552_553delinsGT (p.Glu184=)
n.5493_5494delinsGT
c.5601_5602delinsGT (p.Glu1867=)
n.5307_5308delinsGT
n.6057_6058delinsGT
n.4459_4460delinsGT
c.5910_5911delinsGT (p.Glu1970=)
c.5103_5104delinsGT (p.Glu1701=)
c.1404_1405delinsGT (p.Glu468=)
c.5490_5491delinsGT (p.Glu1830=)
c.4854_4855delinsGT (p.Glu1618=)
c.1644_1645delinsGT (p.Glu548=)
5g.177282483delCA295000NSD1c.5038del (p.Tyr1680MetfsTer6)
c.553del (p.Tyr185MetfsTer6)
n.5494del
c.5602del (p.Tyr1868MetfsTer6)
n.5308del
n.6058del
n.4460del
c.5911del (p.Tyr1971MetfsTer6)
c.5104del (p.Tyr1702MetfsTer6)
c.1405del (p.Tyr469MetfsTer6)
c.5491del (p.Tyr1831MetfsTer6)
c.4855del (p.Tyr1619MetfsTer6)
c.1645del (p.Tyr549MetfsTer6)
 ClinVar dbSNP
5g.177282483T>ACA362315716NSD1c.5038T>A (p.Tyr1680Asn)
c.553T>A (p.Tyr185Asn)
n.5494T>A
c.5602T>A (p.Tyr1868Asn)
n.5308T>A
n.6058T>A
n.4460T>A
c.5911T>A (p.Tyr1971Asn)
c.5104T>A (p.Tyr1702Asn)
c.1405T>A (p.Tyr469Asn)
c.5491T>A (p.Tyr1831Asn)
c.4855T>A (p.Tyr1619Asn)
c.1645T>A (p.Tyr549Asn)
 dbSNP
5g.177282483T>CCA362315713NSD1c.5038T>C (p.Tyr1680His)
c.553T>C (p.Tyr185His)
n.5494T>C
c.5602T>C (p.Tyr1868His)
n.5308T>C
n.6058T>C
n.4460T>C
c.5911T>C (p.Tyr1971His)
c.5104T>C (p.Tyr1702His)
c.1405T>C (p.Tyr469His)
c.5491T>C (p.Tyr1831His)
c.4855T>C (p.Tyr1619His)
c.1645T>C (p.Tyr549His)
5g.177282483T>GCA362315717NSD1c.5038T>G (p.Tyr1680Asp)
c.553T>G (p.Tyr185Asp)
n.5494T>G
c.5602T>G (p.Tyr1868Asp)
n.5308T>G
n.6058T>G
n.4460T>G
c.5911T>G (p.Tyr1971Asp)
c.5104T>G (p.Tyr1702Asp)
c.1405T>G (p.Tyr469Asp)
c.5491T>G (p.Tyr1831Asp)
c.4855T>G (p.Tyr1619Asp)
c.1645T>G (p.Tyr549Asp)
 dbSNP
5g.177282484A>CCA362315722NSD1c.5039A>C (p.Tyr1680Ser)
c.554A>C (p.Tyr185Ser)
n.5495A>C
c.5603A>C (p.Tyr1868Ser)
n.5309A>C
n.6059A>C
n.4461A>C
c.5912A>C (p.Tyr1971Ser)
c.5105A>C (p.Tyr1702Ser)
c.1406A>C (p.Tyr469Ser)
c.5492A>C (p.Tyr1831Ser)
c.4856A>C (p.Tyr1619Ser)
c.1646A>C (p.Tyr549Ser)
5g.177282484A>GCA362315724NSD1c.5039A>G (p.Tyr1680Cys)
c.554A>G (p.Tyr185Cys)
n.5495A>G
c.5603A>G (p.Tyr1868Cys)
n.5309A>G
n.6059A>G
n.4461A>G
c.5912A>G (p.Tyr1971Cys)
c.5105A>G (p.Tyr1702Cys)
c.1406A>G (p.Tyr469Cys)
c.5492A>G (p.Tyr1831Cys)
c.4856A>G (p.Tyr1619Cys)
c.1646A>G (p.Tyr549Cys)
 COSMIC COSMIC
5g.177282484A>TCA362315726NSD1c.5039A>T (p.Tyr1680Phe)
c.554A>T (p.Tyr185Phe)
n.5495A>T
c.5603A>T (p.Tyr1868Phe)
n.5309A>T
n.6059A>T
n.4461A>T
c.5912A>T (p.Tyr1971Phe)
c.5105A>T (p.Tyr1702Phe)
c.1406A>T (p.Tyr469Phe)
c.5492A>T (p.Tyr1831Phe)
c.4856A>T (p.Tyr1619Phe)
c.1646A>T (p.Tyr549Phe)
 dbSNP
5g.177282485T>ACA362315729NSD1c.5040T>A (p.Tyr1680Ter)
c.555T>A (p.Tyr185Ter)
n.5496T>A
c.5604T>A (p.Tyr1868Ter)
n.5310T>A
n.6060T>A
n.4462T>A
c.5913T>A (p.Tyr1971Ter)
c.5106T>A (p.Tyr1702Ter)
c.1407T>A (p.Tyr469Ter)
c.5493T>A (p.Tyr1831Ter)
c.4857T>A (p.Tyr1619Ter)
c.1647T>A (p.Tyr549Ter)
5g.177282485T>CCA3577916NSD1c.5040T>C (p.Tyr1680=)
c.555T>C (p.Tyr185=)
n.5496T>C
c.5604T>C (p.Tyr1868=)
n.5310T>C
n.6060T>C
n.4462T>C
c.5913T>C (p.Tyr1971=)
c.5106T>C (p.Tyr1702=)
c.1407T>C (p.Tyr469=)
c.5493T>C (p.Tyr1831=)
c.4857T>C (p.Tyr1619=)
c.1647T>C (p.Tyr549=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.177282485T>GCA362315733NSD1c.5040T>G (p.Tyr1680Ter)
c.555T>G (p.Tyr185Ter)
n.5496T>G
c.5604T>G (p.Tyr1868Ter)
n.5310T>G
n.6060T>G
n.4462T>G
c.5913T>G (p.Tyr1971Ter)
c.5106T>G (p.Tyr1702Ter)
c.1407T>G (p.Tyr469Ter)
c.5493T>G (p.Tyr1831Ter)
c.4857T>G (p.Tyr1619Ter)
c.1647T>G (p.Tyr549Ter)
5g.177282485T=CA1603552012NSD1c.5040T= (p.Tyr1680=)
c.555T= (p.Tyr185=)
n.5496T=
c.5604T= (p.Tyr1868=)
n.5310T=
n.6060T=
n.4462T=
c.5913T= (p.Tyr1971=)
c.5106T= (p.Tyr1702=)
c.1407T= (p.Tyr469=)
c.5493T= (p.Tyr1831=)
c.4857T= (p.Tyr1619=)
c.1647T= (p.Tyr549=)
5g.177282486G>ACA362315736NSD1c.5041G>A (p.Val1681Met)
c.556G>A (p.Val186Met)
n.5497G>A
c.5605G>A (p.Val1869Met)
n.5311G>A
n.6061G>A
n.4463G>A
c.5914G>A (p.Val1972Met)
c.5107G>A (p.Val1703Met)
c.1408G>A (p.Val470Met)
c.5494G>A (p.Val1832Met)
c.4858G>A (p.Val1620Met)
c.1648G>A (p.Val550Met)
5g.177282486G>CCA362315737NSD1c.5041G>C (p.Val1681Leu)
c.556G>C (p.Val186Leu)
n.5497G>C
c.5605G>C (p.Val1869Leu)
n.5311G>C
n.6061G>C
n.4463G>C
c.5914G>C (p.Val1972Leu)
c.5107G>C (p.Val1703Leu)
c.1408G>C (p.Val470Leu)
c.5494G>C (p.Val1832Leu)
c.4858G>C (p.Val1620Leu)
c.1648G>C (p.Val550Leu)
5g.177282486G>TCA362315739NSD1c.5041G>T (p.Val1681Leu)
c.556G>T (p.Val186Leu)
n.5497G>T
c.5605G>T (p.Val1869Leu)
n.5311G>T
n.6061G>T
n.4463G>T
c.5914G>T (p.Val1972Leu)
c.5107G>T (p.Val1703Leu)
c.1408G>T (p.Val470Leu)
c.5494G>T (p.Val1832Leu)
c.4858G>T (p.Val1620Leu)
c.1648G>T (p.Val550Leu)
5g.177282489_177282492delCA2711005654NSD1c.5044_5047del (p.Gly1682SerfsTer3)
c.559_562del (p.Gly187SerfsTer3)
n.5500_5503del
c.5608_5611del (p.Gly1870SerfsTer3)
n.5314_5317del
n.6064_6067del
n.4466_4469del
c.5917_5920del (p.Gly1973SerfsTer3)
c.5110_5113del (p.Gly1704SerfsTer3)
c.1411_1414del (p.Gly471SerfsTer3)
c.5497_5500del (p.Gly1833SerfsTer3)
c.4861_4864del (p.Gly1621SerfsTer3)
c.1651_1654del (p.Gly551SerfsTer3)
 dbSNP
5g.177282487T>ACA362315741NSD1c.5042T>A (p.Val1681Glu)
c.557T>A (p.Val186Glu)
n.5498T>A
c.5606T>A (p.Val1869Glu)
n.5312T>A
n.6062T>A
n.4464T>A
c.5915T>A (p.Val1972Glu)
c.5108T>A (p.Val1703Glu)
c.1409T>A (p.Val470Glu)
c.5495T>A (p.Val1832Glu)
c.4859T>A (p.Val1620Glu)
c.1649T>A (p.Val550Glu)
 dbSNP
5g.177282487T>CCA362315743NSD1c.5042T>C (p.Val1681Ala)
c.557T>C (p.Val186Ala)
n.5498T>C
c.5606T>C (p.Val1869Ala)
n.5312T>C
n.6062T>C
n.4464T>C
c.5915T>C (p.Val1972Ala)
c.5108T>C (p.Val1703Ala)
c.1409T>C (p.Val470Ala)
c.5495T>C (p.Val1832Ala)
c.4859T>C (p.Val1620Ala)
c.1649T>C (p.Val550Ala)
5g.177282487T>GCA362315745NSD1c.5042T>G (p.Val1681Gly)
c.557T>G (p.Val186Gly)
n.5498T>G
c.5606T>G (p.Val1869Gly)
n.5312T>G
n.6062T>G
n.4464T>G
c.5915T>G (p.Val1972Gly)
c.5108T>G (p.Val1703Gly)
c.1409T>G (p.Val470Gly)
c.5495T>G (p.Val1832Gly)
c.4859T>G (p.Val1620Gly)
c.1649T>G (p.Val550Gly)
5g.177282488G>ACA447737376NSD1c.5043G>A (p.Val1681=)
c.558G>A (p.Val186=)
n.5499G>A
c.5607G>A (p.Val1869=)
n.5313G>A
n.6063G>A
n.4465G>A
c.5916G>A (p.Val1972=)
c.5109G>A (p.Val1703=)
c.1410G>A (p.Val470=)
c.5496G>A (p.Val1832=)
c.4860G>A (p.Val1620=)
c.1650G>A (p.Val550=)
5g.177282488G>CCA447737378NSD1c.5043G>C (p.Val1681=)
c.558G>C (p.Val186=)
n.5499G>C
c.5607G>C (p.Val1869=)
n.5313G>C
n.6063G>C
n.4465G>C
c.5916G>C (p.Val1972=)
c.5109G>C (p.Val1703=)
c.1410G>C (p.Val470=)
c.5496G>C (p.Val1832=)
c.4860G>C (p.Val1620=)
c.1650G>C (p.Val550=)
 COSMIC COSMIC
5g.177282488G>TCA447737380NSD1c.5043G>T (p.Val1681=)
c.558G>T (p.Val186=)
n.5499G>T
c.5607G>T (p.Val1869=)
n.5313G>T
n.6063G>T
n.4465G>T
c.5916G>T (p.Val1972=)
c.5109G>T (p.Val1703=)
c.1410G>T (p.Val470=)
c.5496G>T (p.Val1832=)
c.4860G>T (p.Val1620=)
c.1650G>T (p.Val550=)
5g.177282489G>ACA362315750NSD1c.5044G>A (p.Gly1682Ser)
c.559G>A (p.Gly187Ser)
n.5500G>A
c.5608G>A (p.Gly1870Ser)
n.5314G>A
n.6064G>A
n.4466G>A
c.5917G>A (p.Gly1973Ser)
c.5110G>A (p.Gly1704Ser)
c.1411G>A (p.Gly471Ser)
c.5497G>A (p.Gly1833Ser)
c.4861G>A (p.Gly1621Ser)
c.1651G>A (p.Gly551Ser)
 dbSNP
5g.177282489G>CCA362315755NSD1c.5044G>C (p.Gly1682Arg)
c.559G>C (p.Gly187Arg)
n.5500G>C
c.5608G>C (p.Gly1870Arg)
n.5314G>C
n.6064G>C
n.4466G>C
c.5917G>C (p.Gly1973Arg)
c.5110G>C (p.Gly1704Arg)
c.1411G>C (p.Gly471Arg)
c.5497G>C (p.Gly1833Arg)
c.4861G>C (p.Gly1621Arg)
c.1651G>C (p.Gly551Arg)
 dbSNP
5g.177282489G>TCA362315752NSD1c.5044G>T (p.Gly1682Cys)
c.559G>T (p.Gly187Cys)
n.5500G>T
c.5608G>T (p.Gly1870Cys)
n.5314G>T
n.6064G>T
n.4466G>T
c.5917G>T (p.Gly1973Cys)
c.5110G>T (p.Gly1704Cys)
c.1411G>T (p.Gly471Cys)
c.5497G>T (p.Gly1833Cys)
c.4861G>T (p.Gly1621Cys)
c.1651G>T (p.Gly551Cys)
 dbSNP COSMIC COSMIC
5g.177282490G>ACA132848882NSD1c.5045G>A (p.Gly1682Asp)
c.560G>A (p.Gly187Asp)
n.5501G>A
c.5609G>A (p.Gly1870Asp)
n.5315G>A
n.6065G>A
n.4467G>A
c.5918G>A (p.Gly1973Asp)
c.5111G>A (p.Gly1704Asp)
c.1412G>A (p.Gly471Asp)
c.5498G>A (p.Gly1833Asp)
c.4862G>A (p.Gly1621Asp)
c.1652G>A (p.Gly551Asp)
 dbSNP COSMIC COSMIC
5g.177282490G>CCA362315759NSD1c.5045G>C (p.Gly1682Ala)
c.560G>C (p.Gly187Ala)
n.5501G>C
c.5609G>C (p.Gly1870Ala)
n.5315G>C
n.6065G>C
n.4467G>C
c.5918G>C (p.Gly1973Ala)
c.5111G>C (p.Gly1704Ala)
c.1412G>C (p.Gly471Ala)
c.5498G>C (p.Gly1833Ala)
c.4862G>C (p.Gly1621Ala)
c.1652G>C (p.Gly551Ala)
 dbSNP
5g.177282490G=CA1603552016NSD1c.5045G= (p.Gly1682=)
c.560G= (p.Gly187=)
n.5501G=
c.5609G= (p.Gly1870=)
n.5315G=
n.6065G=
n.4467G=
c.5918G= (p.Gly1973=)
c.5111G= (p.Gly1704=)
c.1412G= (p.Gly471=)
c.5498G= (p.Gly1833=)
c.4862G= (p.Gly1621=)
c.1652G= (p.Gly551=)
5g.177282490G>TCA295001NSD1c.5045G>T (p.Gly1682Val)
c.560G>T (p.Gly187Val)
n.5501G>T
c.5609G>T (p.Gly1870Val)
n.5315G>T
n.6065G>T
n.4467G>T
c.5918G>T (p.Gly1973Val)
c.5111G>T (p.Gly1704Val)
c.1412G>T (p.Gly471Val)
c.5498G>T (p.Gly1833Val)
c.4862G>T (p.Gly1621Val)
c.1652G>T (p.Gly551Val)
 ClinVar dbSNP
5g.177282491T>ACA447737388NSD1c.5046T>A (p.Gly1682=)
c.561T>A (p.Gly187=)
n.5502T>A
c.5610T>A (p.Gly1870=)
n.5316T>A
n.6066T>A
n.4468T>A
c.5919T>A (p.Gly1973=)
c.5112T>A (p.Gly1704=)
c.1413T>A (p.Gly471=)
c.5499T>A (p.Gly1833=)
c.4863T>A (p.Gly1621=)
c.1653T>A (p.Gly551=)
 dbSNP
5g.177282491T>CCA447737392NSD1c.5046T>C (p.Gly1682=)
c.561T>C (p.Gly187=)
n.5502T>C
c.5610T>C (p.Gly1870=)
n.5316T>C
n.6066T>C
n.4468T>C
c.5919T>C (p.Gly1973=)
c.5112T>C (p.Gly1704=)
c.1413T>C (p.Gly471=)
c.5499T>C (p.Gly1833=)
c.4863T>C (p.Gly1621=)
c.1653T>C (p.Gly551=)
 dbSNP
5g.177282491T>GCA447737390NSD1c.5046T>G (p.Gly1682=)
c.561T>G (p.Gly187=)
n.5502T>G
c.5610T>G (p.Gly1870=)
n.5316T>G
n.6066T>G
n.4468T>G
c.5919T>G (p.Gly1973=)
c.5112T>G (p.Gly1704=)
c.1413T>G (p.Gly471=)
c.5499T>G (p.Gly1833=)
c.4863T>G (p.Gly1621=)
c.1653T>G (p.Gly551=)
 dbSNP
5g.177282492G>ACA362315765NSD1c.5047G>A (p.Glu1683Lys)
c.562G>A (p.Glu188Lys)
n.5503G>A
c.5611G>A (p.Glu1871Lys)
n.5317G>A
n.6067G>A
n.4469G>A
c.5920G>A (p.Glu1974Lys)
c.5113G>A (p.Glu1705Lys)
c.1414G>A (p.Glu472Lys)
c.5500G>A (p.Glu1834Lys)
c.4864G>A (p.Glu1622Lys)
c.1654G>A (p.Glu552Lys)
 dbSNP
5g.177282492G>CCA362315767NSD1c.5047G>C (p.Glu1683Gln)
c.562G>C (p.Glu188Gln)
n.5503G>C
c.5611G>C (p.Glu1871Gln)
n.5317G>C
n.6067G>C
n.4469G>C
c.5920G>C (p.Glu1974Gln)
c.5113G>C (p.Glu1705Gln)
c.1414G>C (p.Glu472Gln)
c.5500G>C (p.Glu1834Gln)
c.4864G>C (p.Glu1622Gln)
c.1654G>C (p.Glu552Gln)
 dbSNP
5g.177282492G>TCA362315770NSD1c.5047G>T (p.Glu1683Ter)
c.562G>T (p.Glu188Ter)
n.5503G>T
c.5611G>T (p.Glu1871Ter)
n.5317G>T
n.6067G>T
n.4469G>T
c.5920G>T (p.Glu1974Ter)
c.5113G>T (p.Glu1705Ter)
c.1414G>T (p.Glu472Ter)
c.5500G>T (p.Glu1834Ter)
c.4864G>T (p.Glu1622Ter)
c.1654G>T (p.Glu552Ter)
5g.177282493A>CCA362315773NSD1c.5048A>C (p.Glu1683Ala)
c.563A>C (p.Glu188Ala)
n.5504A>C
c.5612A>C (p.Glu1871Ala)
n.5318A>C
n.6068A>C
n.4470A>C
c.5921A>C (p.Glu1974Ala)
c.5114A>C (p.Glu1705Ala)
c.1415A>C (p.Glu472Ala)
c.5501A>C (p.Glu1834Ala)
c.4865A>C (p.Glu1622Ala)
c.1655A>C (p.Glu552Ala)
5g.177282493A>GCA362315776NSD1c.5048A>G (p.Glu1683Gly)
c.563A>G (p.Glu188Gly)
n.5504A>G
c.5612A>G (p.Glu1871Gly)
n.5318A>G
n.6068A>G
n.4470A>G
c.5921A>G (p.Glu1974Gly)
c.5114A>G (p.Glu1705Gly)
c.1415A>G (p.Glu472Gly)
c.5501A>G (p.Glu1834Gly)
c.4865A>G (p.Glu1622Gly)
c.1655A>G (p.Glu552Gly)
5g.177282493A>TCA362315778NSD1c.5048A>T (p.Glu1683Val)
c.563A>T (p.Glu188Val)
n.5504A>T
c.5612A>T (p.Glu1871Val)
n.5318A>T
n.6068A>T
n.4470A>T
c.5921A>T (p.Glu1974Val)
c.5114A>T (p.Glu1705Val)
c.1415A>T (p.Glu472Val)
c.5501A>T (p.Glu1834Val)
c.4865A>T (p.Glu1622Val)
c.1655A>T (p.Glu552Val)
 dbSNP
5g.177282494G>ACA447737401NSD1c.5049G>A (p.Glu1683=)
c.564G>A (p.Glu188=)
n.5505G>A
c.5613G>A (p.Glu1871=)
n.5319G>A
n.6069G>A
n.4471G>A
c.5922G>A (p.Glu1974=)
c.5115G>A (p.Glu1705=)
c.1416G>A (p.Glu472=)
c.5502G>A (p.Glu1834=)
c.4866G>A (p.Glu1622=)
c.1656G>A (p.Glu552=)
 dbSNP
5g.177282494G>CCA362315780NSD1c.5049G>C (p.Glu1683Asp)
c.564G>C (p.Glu188Asp)
n.5505G>C
c.5613G>C (p.Glu1871Asp)
n.5319G>C
n.6069G>C
n.4471G>C
c.5922G>C (p.Glu1974Asp)
c.5115G>C (p.Glu1705Asp)
c.1416G>C (p.Glu472Asp)
c.5502G>C (p.Glu1834Asp)
c.4866G>C (p.Glu1622Asp)
c.1656G>C (p.Glu552Asp)
 dbSNP
5g.177282494G>TCA362315782NSD1c.5049G>T (p.Glu1683Asp)
c.564G>T (p.Glu188Asp)
n.5505G>T
c.5613G>T (p.Glu1871Asp)
n.5319G>T
n.6069G>T
n.4471G>T
c.5922G>T (p.Glu1974Asp)
c.5115G>T (p.Glu1705Asp)
c.1416G>T (p.Glu472Asp)
c.5502G>T (p.Glu1834Asp)
c.4866G>T (p.Glu1622Asp)
c.1656G>T (p.Glu552Asp)
5g.177282495C>ACA362315790NSD1c.5050C>A (p.Leu1684Ile)
c.565C>A (p.Leu189Ile)
n.5506C>A
c.5614C>A (p.Leu1872Ile)
n.5320C>A
n.6070C>A
n.4472C>A
c.5923C>A (p.Leu1975Ile)
c.5116C>A (p.Leu1706Ile)
c.1417C>A (p.Leu473Ile)
c.5503C>A (p.Leu1835Ile)
c.4867C>A (p.Leu1623Ile)
c.1657C>A (p.Leu553Ile)
5g.177282495C>GCA362315787NSD1c.5050C>G (p.Leu1684Val)
c.565C>G (p.Leu189Val)
n.5506C>G
c.5614C>G (p.Leu1872Val)
n.5320C>G
n.6070C>G
n.4472C>G
c.5923C>G (p.Leu1975Val)
c.5116C>G (p.Leu1706Val)
c.1417C>G (p.Leu473Val)
c.5503C>G (p.Leu1835Val)
c.4867C>G (p.Leu1623Val)
c.1657C>G (p.Leu553Val)
5g.177282495C>TCA362315785NSD1c.5050C>T (p.Leu1684Phe)
c.565C>T (p.Leu189Phe)
n.5506C>T
c.5614C>T (p.Leu1872Phe)
n.5320C>T
n.6070C>T
n.4472C>T
c.5923C>T (p.Leu1975Phe)
c.5116C>T (p.Leu1706Phe)
c.1417C>T (p.Leu473Phe)
c.5503C>T (p.Leu1835Phe)
c.4867C>T (p.Leu1623Phe)
c.1657C>T (p.Leu553Phe)
5g.177282496T>ACA362315793NSD1c.5051T>A (p.Leu1684His)
c.566T>A (p.Leu189His)
n.5507T>A
c.5615T>A (p.Leu1872His)
n.5321T>A
n.6071T>A
n.4473T>A
c.5924T>A (p.Leu1975His)
c.5117T>A (p.Leu1706His)
c.1418T>A (p.Leu473His)
c.5504T>A (p.Leu1835His)
c.4868T>A (p.Leu1623His)
c.1658T>A (p.Leu553His)
5g.177282496T>CCA362315792NSD1c.5051T>C (p.Leu1684Pro)
c.566T>C (p.Leu189Pro)
n.5507T>C
c.5615T>C (p.Leu1872Pro)
n.5321T>C
n.6071T>C
n.4473T>C
c.5924T>C (p.Leu1975Pro)
c.5117T>C (p.Leu1706Pro)
c.1418T>C (p.Leu473Pro)
c.5504T>C (p.Leu1835Pro)
c.4868T>C (p.Leu1623Pro)
c.1658T>C (p.Leu553Pro)
5g.177282496T>GCA362315795NSD1c.5051T>G (p.Leu1684Arg)
c.566T>G (p.Leu189Arg)
n.5507T>G
c.5615T>G (p.Leu1872Arg)
n.5321T>G
n.6071T>G
n.4473T>G
c.5924T>G (p.Leu1975Arg)
c.5117T>G (p.Leu1706Arg)
c.1418T>G (p.Leu473Arg)
c.5504T>G (p.Leu1835Arg)
c.4868T>G (p.Leu1623Arg)
c.1658T>G (p.Leu553Arg)
5g.177282497T>ACA447737414NSD1c.5052T>A (p.Leu1684=)
c.567T>A (p.Leu189=)
n.5508T>A
c.5616T>A (p.Leu1872=)
n.5322T>A
n.6072T>A
n.4474T>A
c.5925T>A (p.Leu1975=)
c.5118T>A (p.Leu1706=)
c.1419T>A (p.Leu473=)
c.5505T>A (p.Leu1835=)
c.4869T>A (p.Leu1623=)
c.1659T>A (p.Leu553=)
 dbSNP
5g.177282497T>CCA447737416NSD1c.5052T>C (p.Leu1684=)
c.567T>C (p.Leu189=)
n.5508T>C
c.5616T>C (p.Leu1872=)
n.5322T>C
n.6072T>C
n.4474T>C
c.5925T>C (p.Leu1975=)
c.5118T>C (p.Leu1706=)
c.1419T>C (p.Leu473=)
c.5505T>C (p.Leu1835=)
c.4869T>C (p.Leu1623=)
c.1659T>C (p.Leu553=)
5g.177282497T>GCA447737419NSD1c.5052T>G (p.Leu1684=)
c.567T>G (p.Leu189=)
n.5508T>G
c.5616T>G (p.Leu1872=)
n.5322T>G
n.6072T>G
n.4474T>G
c.5925T>G (p.Leu1975=)
c.5118T>G (p.Leu1706=)
c.1419T>G (p.Leu473=)
c.5505T>G (p.Leu1835=)
c.4869T>G (p.Leu1623=)
c.1659T>G (p.Leu553=)
5g.177282499_177282500delCA2695205729NSD1c.5054_5055del (p.Ile1685ArgfsTer2)
c.569_570del (p.Ile190ArgfsTer2)
n.5510_5511del
c.5618_5619del (p.Ile1873ArgfsTer2)
n.5324_5325del
n.6074_6075del
n.4476_4477del
c.5927_5928del (p.Ile1976ArgfsTer2)
c.5120_5121del (p.Ile1707ArgfsTer2)
c.1421_1422del (p.Ile474ArgfsTer2)
c.5507_5508del (p.Ile1836ArgfsTer2)
c.4871_4872del (p.Ile1624ArgfsTer2)
c.1661_1662del (p.Ile554ArgfsTer2)
5g.177282498A>CCA362315797NSD1c.5053A>C (p.Ile1685Leu)
c.568A>C (p.Ile190Leu)
n.5509A>C
c.5617A>C (p.Ile1873Leu)
n.5323A>C
n.6073A>C
n.4475A>C
c.5926A>C (p.Ile1976Leu)
c.5119A>C (p.Ile1707Leu)
c.1420A>C (p.Ile474Leu)
c.5506A>C (p.Ile1836Leu)
c.4870A>C (p.Ile1624Leu)
c.1660A>C (p.Ile554Leu)
 dbSNP
5g.177282498A>GCA362315799NSD1c.5053A>G (p.Ile1685Val)
c.568A>G (p.Ile190Val)
n.5509A>G
c.5617A>G (p.Ile1873Val)
n.5323A>G
n.6073A>G
n.4475A>G
c.5926A>G (p.Ile1976Val)
c.5119A>G (p.Ile1707Val)
c.1420A>G (p.Ile474Val)
c.5506A>G (p.Ile1836Val)
c.4870A>G (p.Ile1624Val)
c.1660A>G (p.Ile554Val)
 gnomAD v4
5g.177282498A>TCA362315800NSD1c.5053A>T (p.Ile1685Leu)
c.568A>T (p.Ile190Leu)
n.5509A>T
c.5617A>T (p.Ile1873Leu)
n.5323A>T
n.6073A>T
n.4475A>T
c.5926A>T (p.Ile1976Leu)
c.5119A>T (p.Ile1707Leu)
c.1420A>T (p.Ile474Leu)
c.5506A>T (p.Ile1836Leu)
c.4870A>T (p.Ile1624Leu)
c.1660A>T (p.Ile554Leu)
 dbSNP
5g.177282499T>ACA295004NSD1c.5054T>A (p.Ile1685Lys)
c.569T>A (p.Ile190Lys)
n.5510T>A
c.5618T>A (p.Ile1873Lys)
n.5324T>A
n.6074T>A
n.4476T>A
c.5927T>A (p.Ile1976Lys)
c.5120T>A (p.Ile1707Lys)
c.1421T>A (p.Ile474Lys)
c.5507T>A (p.Ile1836Lys)
c.4871T>A (p.Ile1624Lys)
c.1661T>A (p.Ile554Lys)
 ClinVar dbSNP
5g.177282499T>CCA362315804NSD1c.5054T>C (p.Ile1685Thr)
c.569T>C (p.Ile190Thr)
n.5510T>C
c.5618T>C (p.Ile1873Thr)
n.5324T>C
n.6074T>C
n.4476T>C
c.5927T>C (p.Ile1976Thr)
c.5120T>C (p.Ile1707Thr)
c.1421T>C (p.Ile474Thr)
c.5507T>C (p.Ile1836Thr)
c.4871T>C (p.Ile1624Thr)
c.1661T>C (p.Ile554Thr)
 ClinVar dbSNP
5g.177282499T>GCA362315805NSD1c.5054T>G (p.Ile1685Arg)
c.569T>G (p.Ile190Arg)
n.5510T>G
c.5618T>G (p.Ile1873Arg)
n.5324T>G
n.6074T>G
n.4476T>G
c.5927T>G (p.Ile1976Arg)
c.5120T>G (p.Ile1707Arg)
c.1421T>G (p.Ile474Arg)
c.5507T>G (p.Ile1836Arg)
c.4871T>G (p.Ile1624Arg)
c.1661T>G (p.Ile554Arg)
5g.177282499T=CA1603552025NSD1c.5054T= (p.Ile1685=)
c.569T= (p.Ile190=)
n.5510T=
c.5618T= (p.Ile1873=)
n.5324T=
n.6074T=
n.4476T=
c.5927T= (p.Ile1976=)
c.5120T= (p.Ile1707=)
c.1421T= (p.Ile474=)
c.5507T= (p.Ile1836=)
c.4871T= (p.Ile1624=)
c.1661T= (p.Ile554=)
5g.177282500A>CCA447737433NSD1c.5055A>C (p.Ile1685=)
c.570A>C (p.Ile190=)
n.5511A>C
c.5619A>C (p.Ile1873=)
n.5325A>C
n.6075A>C
n.4477A>C
c.5928A>C (p.Ile1976=)
c.5121A>C (p.Ile1707=)
c.1422A>C (p.Ile474=)
c.5508A>C (p.Ile1836=)
c.4872A>C (p.Ile1624=)
c.1662A>C (p.Ile554=)
5g.177282500A>GCA362315806NSD1c.5055A>G (p.Ile1685Met)
c.570A>G (p.Ile190Met)
n.5511A>G
c.5619A>G (p.Ile1873Met)
n.5325A>G
n.6075A>G
n.4477A>G
c.5928A>G (p.Ile1976Met)
c.5121A>G (p.Ile1707Met)
c.1422A>G (p.Ile474Met)
c.5508A>G (p.Ile1836Met)
c.4872A>G (p.Ile1624Met)
c.1662A>G (p.Ile554Met)
 dbSNP
5g.177282500A>TCA447737431NSD1c.5055A>T (p.Ile1685=)
c.570A>T (p.Ile190=)
n.5511A>T
c.5619A>T (p.Ile1873=)
n.5325A>T
n.6075A>T
n.4477A>T
c.5928A>T (p.Ile1976=)
c.5121A>T (p.Ile1707=)
c.1422A>T (p.Ile474=)
c.5508A>T (p.Ile1836=)
c.4872A>T (p.Ile1624=)
c.1662A>T (p.Ile554=)
 dbSNP
5g.177282501G>ACA362315809NSD1c.5056G>A (p.Asp1686Asn)
c.571G>A (p.Asp191Asn)
n.5512G>A
c.5620G>A (p.Asp1874Asn)
n.5326G>A
n.6076G>A
n.4478G>A
c.5929G>A (p.Asp1977Asn)
c.5122G>A (p.Asp1708Asn)
c.1423G>A (p.Asp475Asn)
c.5509G>A (p.Asp1837Asn)
c.4873G>A (p.Asp1625Asn)
c.1663G>A (p.Asp555Asn)
 dbSNP
5g.177282501G>CCA362315810NSD1c.5056G>C (p.Asp1686His)
c.571G>C (p.Asp191His)
n.5512G>C
c.5620G>C (p.Asp1874His)
n.5326G>C
n.6076G>C
n.4478G>C
c.5929G>C (p.Asp1977His)
c.5122G>C (p.Asp1708His)
c.1423G>C (p.Asp475His)
c.5509G>C (p.Asp1837His)
c.4873G>C (p.Asp1625His)
c.1663G>C (p.Asp555His)
 dbSNP
5g.177282501G>TCA362315812NSD1c.5056G>T (p.Asp1686Tyr)
c.571G>T (p.Asp191Tyr)
n.5512G>T
c.5620G>T (p.Asp1874Tyr)
n.5326G>T
n.6076G>T
n.4478G>T
c.5929G>T (p.Asp1977Tyr)
c.5122G>T (p.Asp1708Tyr)
c.1423G>T (p.Asp475Tyr)
c.5509G>T (p.Asp1837Tyr)
c.4873G>T (p.Asp1625Tyr)
c.1663G>T (p.Asp555Tyr)
 dbSNP
5g.177282502A>CCA362315814NSD1c.5057A>C (p.Asp1686Ala)
c.572A>C (p.Asp191Ala)
n.5513A>C
c.5621A>C (p.Asp1874Ala)
n.5327A>C
n.6077A>C
n.4479A>C
c.5930A>C (p.Asp1977Ala)
c.5123A>C (p.Asp1708Ala)
c.1424A>C (p.Asp475Ala)
c.5510A>C (p.Asp1837Ala)
c.4874A>C (p.Asp1625Ala)
c.1664A>C (p.Asp555Ala)
5g.177282502A>GCA362315816NSD1c.5057A>G (p.Asp1686Gly)
c.572A>G (p.Asp191Gly)
n.5513A>G
c.5621A>G (p.Asp1874Gly)
n.5327A>G
n.6077A>G
n.4479A>G
c.5930A>G (p.Asp1977Gly)
c.5123A>G (p.Asp1708Gly)
c.1424A>G (p.Asp475Gly)
c.5510A>G (p.Asp1837Gly)
c.4874A>G (p.Asp1625Gly)
c.1664A>G (p.Asp555Gly)
5g.177282502A>TCA362315817NSD1c.5057A>T (p.Asp1686Val)
c.572A>T (p.Asp191Val)
n.5513A>T
c.5621A>T (p.Asp1874Val)
n.5327A>T
n.6077A>T
n.4479A>T
c.5930A>T (p.Asp1977Val)
c.5123A>T (p.Asp1708Val)
c.1424A>T (p.Asp475Val)
c.5510A>T (p.Asp1837Val)
c.4874A>T (p.Asp1625Val)
c.1664A>T (p.Asp555Val)
 dbSNP
5g.177282503T>ACA362315821NSD1c.5058T>A (p.Asp1686Glu)
c.573T>A (p.Asp191Glu)
n.5514T>A
c.5622T>A (p.Asp1874Glu)
n.5328T>A
n.6078T>A
n.4480T>A
c.5931T>A (p.Asp1977Glu)
c.5124T>A (p.Asp1708Glu)
c.1425T>A (p.Asp475Glu)
c.5511T>A (p.Asp1837Glu)
c.4875T>A (p.Asp1625Glu)
c.1665T>A (p.Asp555Glu)
5g.177282503T>CCA447737446NSD1c.5058T>C (p.Asp1686=)
c.573T>C (p.Asp191=)
n.5514T>C
c.5622T>C (p.Asp1874=)
n.5328T>C
n.6078T>C
n.4480T>C
c.5931T>C (p.Asp1977=)
c.5124T>C (p.Asp1708=)
c.1425T>C (p.Asp475=)
c.5511T>C (p.Asp1837=)
c.4875T>C (p.Asp1625=)
c.1665T>C (p.Asp555=)
5g.177282503T>GCA362315819NSD1c.5058T>G (p.Asp1686Glu)
c.573T>G (p.Asp191Glu)
n.5514T>G
c.5622T>G (p.Asp1874Glu)
n.5328T>G
n.6078T>G
n.4480T>G
c.5931T>G (p.Asp1977Glu)
c.5124T>G (p.Asp1708Glu)
c.1425T>G (p.Asp475Glu)
c.5511T>G (p.Asp1837Glu)
c.4875T>G (p.Asp1625Glu)
c.1665T>G (p.Asp555Glu)
5g.177282504G>ACA362315823NSD1c.5059G>A (p.Glu1687Lys)
c.574G>A (p.Glu192Lys)
n.5515G>A
c.5623G>A (p.Glu1875Lys)
n.5329G>A
n.6079G>A
n.4481G>A
c.5932G>A (p.Glu1978Lys)
c.5125G>A (p.Glu1709Lys)
c.1426G>A (p.Glu476Lys)
c.5512G>A (p.Glu1838Lys)
c.4876G>A (p.Glu1626Lys)
c.1666G>A (p.Glu556Lys)
 dbSNP COSMIC COSMIC
5g.177282504G>CCA362315824NSD1c.5059G>C (p.Glu1687Gln)
c.574G>C (p.Glu192Gln)
n.5515G>C
c.5623G>C (p.Glu1875Gln)
n.5329G>C
n.6079G>C
n.4481G>C
c.5932G>C (p.Glu1978Gln)
c.5125G>C (p.Glu1709Gln)
c.1426G>C (p.Glu476Gln)
c.5512G>C (p.Glu1838Gln)
c.4876G>C (p.Glu1626Gln)
c.1666G>C (p.Glu556Gln)
 dbSNP
5g.177282504G>TCA362315826NSD1c.5059G>T (p.Glu1687Ter)
c.574G>T (p.Glu192Ter)
n.5515G>T
c.5623G>T (p.Glu1875Ter)
n.5329G>T
n.6079G>T
n.4481G>T
c.5932G>T (p.Glu1978Ter)
c.5125G>T (p.Glu1709Ter)
c.1426G>T (p.Glu476Ter)
c.5512G>T (p.Glu1838Ter)
c.4876G>T (p.Glu1626Ter)
c.1666G>T (p.Glu556Ter)
5g.177282510_177282512delCA2695205730NSD1c.5065_5067del (p.Glu1689del)
c.580_582del (p.Glu194del)
n.5521_5523del
c.5629_5631del (p.Glu1877del)
n.5335_5337del
n.6085_6087del
n.4487_4489del
c.5938_5940del (p.Glu1980del)
c.5131_5133del (p.Glu1711del)
c.1432_1434del (p.Glu478del)
c.5518_5520del (p.Glu1840del)
c.4882_4884del (p.Glu1628del)
c.1672_1674del (p.Glu558del)
5g.177282505A>CCA362315828NSD1c.5060A>C (p.Glu1687Ala)
c.575A>C (p.Glu192Ala)
n.5516A>C
c.5624A>C (p.Glu1875Ala)
n.5330A>C
n.6080A>C
n.4482A>C
c.5933A>C (p.Glu1978Ala)
c.5126A>C (p.Glu1709Ala)
c.1427A>C (p.Glu476Ala)
c.5513A>C (p.Glu1838Ala)
c.4877A>C (p.Glu1626Ala)
c.1667A>C (p.Glu556Ala)
5g.177282505A>GCA362315830NSD1c.5060A>G (p.Glu1687Gly)
c.575A>G (p.Glu192Gly)
n.5516A>G
c.5624A>G (p.Glu1875Gly)
n.5330A>G
n.6080A>G
n.4482A>G
c.5933A>G (p.Glu1978Gly)
c.5126A>G (p.Glu1709Gly)
c.1427A>G (p.Glu476Gly)
c.5513A>G (p.Glu1838Gly)
c.4877A>G (p.Glu1626Gly)
c.1667A>G (p.Glu556Gly)
5g.177282505A>TCA362315832NSD1c.5060A>T (p.Glu1687Val)
c.575A>T (p.Glu192Val)
n.5516A>T
c.5624A>T (p.Glu1875Val)
n.5330A>T
n.6080A>T
n.4482A>T
c.5933A>T (p.Glu1978Val)
c.5126A>T (p.Glu1709Val)
c.1427A>T (p.Glu476Val)
c.5513A>T (p.Glu1838Val)
c.4877A>T (p.Glu1626Val)
c.1667A>T (p.Glu556Val)
 dbSNP
5g.177282506A=CA1603552029NSD1c.5061A= (p.Glu1687=)
c.576A= (p.Glu192=)
n.5517A=
c.5625A= (p.Glu1875=)
n.5331A=
n.6081A=
n.4483A=
c.5934A= (p.Glu1978=)
c.5127A= (p.Glu1709=)
c.1428A= (p.Glu476=)
c.5514A= (p.Glu1838=)
c.4878A= (p.Glu1626=)
c.1668A= (p.Glu556=)
5g.177282506A>CCA362315834NSD1c.5061A>C (p.Glu1687Asp)
c.576A>C (p.Glu192Asp)
n.5517A>C
c.5625A>C (p.Glu1875Asp)
n.5331A>C
n.6081A>C
n.4483A>C
c.5934A>C (p.Glu1978Asp)
c.5127A>C (p.Glu1709Asp)
c.1428A>C (p.Glu476Asp)
c.5514A>C (p.Glu1838Asp)
c.4878A>C (p.Glu1626Asp)
c.1668A>C (p.Glu556Asp)
5g.177282506A>GCA3577917NSD1c.5061A>G (p.Glu1687=)
c.576A>G (p.Glu192=)
n.5517A>G
c.5625A>G (p.Glu1875=)
n.5331A>G
n.6081A>G
n.4483A>G
c.5934A>G (p.Glu1978=)
c.5127A>G (p.Glu1709=)
c.1428A>G (p.Glu476=)
c.5514A>G (p.Glu1838=)
c.4878A>G (p.Glu1626=)
c.1668A>G (p.Glu556=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.177282506A>TCA362315837NSD1c.5061A>T (p.Glu1687Asp)
c.576A>T (p.Glu192Asp)
n.5517A>T
c.5625A>T (p.Glu1875Asp)
n.5331A>T
n.6081A>T
n.4483A>T
c.5934A>T (p.Glu1978Asp)
c.5127A>T (p.Glu1709Asp)
c.1428A>T (p.Glu476Asp)
c.5514A>T (p.Glu1838Asp)
c.4878A>T (p.Glu1626Asp)
c.1668A>T (p.Glu556Asp)
 dbSNP
5g.177282507G>ACA362315839NSD1c.5062G>A (p.Glu1688Lys)
c.577G>A (p.Glu193Lys)
n.5518G>A
c.5626G>A (p.Glu1876Lys)
n.5332G>A
n.6082G>A
n.4484G>A
c.5935G>A (p.Glu1979Lys)
c.5128G>A (p.Glu1710Lys)
c.1429G>A (p.Glu477Lys)
c.5515G>A (p.Glu1839Lys)
c.4879G>A (p.Glu1627Lys)
c.1669G>A (p.Glu557Lys)
 dbSNP
5g.177282507G>CCA362315842NSD1c.5062G>C (p.Glu1688Gln)
c.577G>C (p.Glu193Gln)
n.5518G>C
c.5626G>C (p.Glu1876Gln)
n.5332G>C
n.6082G>C
n.4484G>C
c.5935G>C (p.Glu1979Gln)
c.5128G>C (p.Glu1710Gln)
c.1429G>C (p.Glu477Gln)
c.5515G>C (p.Glu1839Gln)
c.4879G>C (p.Glu1627Gln)
c.1669G>C (p.Glu557Gln)
 dbSNP
5g.177282507G>TCA362315844NSD1c.5062G>T (p.Glu1688Ter)
c.577G>T (p.Glu193Ter)
n.5518G>T
c.5626G>T (p.Glu1876Ter)
n.5332G>T
n.6082G>T
n.4484G>T
c.5935G>T (p.Glu1979Ter)
c.5128G>T (p.Glu1710Ter)
c.1429G>T (p.Glu477Ter)
c.5515G>T (p.Glu1839Ter)
c.4879G>T (p.Glu1627Ter)
c.1669G>T (p.Glu557Ter)
5g.177282508A>CCA362315847NSD1c.5063A>C (p.Glu1688Ala)
c.578A>C (p.Glu193Ala)
n.5519A>C
c.5627A>C (p.Glu1876Ala)
n.5333A>C
n.6083A>C
n.4485A>C
c.5936A>C (p.Glu1979Ala)
c.5129A>C (p.Glu1710Ala)
c.1430A>C (p.Glu477Ala)
c.5516A>C (p.Glu1839Ala)
c.4880A>C (p.Glu1627Ala)
c.1670A>C (p.Glu557Ala)
5g.177282508A>GCA362315846NSD1c.5063A>G (p.Glu1688Gly)
c.578A>G (p.Glu193Gly)
n.5519A>G
c.5627A>G (p.Glu1876Gly)
n.5333A>G
n.6083A>G
n.4485A>G
c.5936A>G (p.Glu1979Gly)
c.5129A>G (p.Glu1710Gly)
c.1430A>G (p.Glu477Gly)
c.5516A>G (p.Glu1839Gly)
c.4880A>G (p.Glu1627Gly)
c.1670A>G (p.Glu557Gly)
5g.177282508A>TCA362315845NSD1c.5063A>T (p.Glu1688Val)
c.578A>T (p.Glu193Val)
n.5519A>T
c.5627A>T (p.Glu1876Val)
n.5333A>T
n.6083A>T
n.4485A>T
c.5936A>T (p.Glu1979Val)
c.5129A>T (p.Glu1710Val)
c.1430A>T (p.Glu477Val)
c.5516A>T (p.Glu1839Val)
c.4880A>T (p.Glu1627Val)
c.1670A>T (p.Glu557Val)
 dbSNP
5g.177282509A=CA1603552032NSD1c.5064A= (p.Glu1688=)
c.579A= (p.Glu193=)
n.5520A=
c.5628A= (p.Glu1876=)
n.5334A=
n.6084A=
n.4486A=
c.5937A= (p.Glu1979=)
c.5130A= (p.Glu1710=)
c.1431A= (p.Glu477=)
c.5517A= (p.Glu1839=)
c.4881A= (p.Glu1627=)
c.1671A= (p.Glu557=)
5g.177282509A>CCA362315848NSD1c.5064A>C (p.Glu1688Asp)
c.579A>C (p.Glu193Asp)
n.5520A>C
c.5628A>C (p.Glu1876Asp)
n.5334A>C
n.6084A>C
n.4486A>C
c.5937A>C (p.Glu1979Asp)
c.5130A>C (p.Glu1710Asp)
c.1431A>C (p.Glu477Asp)
c.5517A>C (p.Glu1839Asp)
c.4881A>C (p.Glu1627Asp)
c.1671A>C (p.Glu557Asp)
 dbSNP
5g.177282509A>GCA447737463NSD1c.5064A>G (p.Glu1688=)
c.579A>G (p.Glu193=)
n.5520A>G
c.5628A>G (p.Glu1876=)
n.5334A>G
n.6084A>G
n.4486A>G
c.5937A>G (p.Glu1979=)
c.5130A>G (p.Glu1710=)
c.1431A>G (p.Glu477=)
c.5517A>G (p.Glu1839=)
c.4881A>G (p.Glu1627=)
c.1671A>G (p.Glu557=)
 dbSNP
5g.177282509A>TCA362315849NSD1c.5064A>T (p.Glu1688Asp)
c.579A>T (p.Glu193Asp)
n.5520A>T
c.5628A>T (p.Glu1876Asp)
n.5334A>T
n.6084A>T
n.4486A>T
c.5937A>T (p.Glu1979Asp)
c.5130A>T (p.Glu1710Asp)
c.1431A>T (p.Glu477Asp)
c.5517A>T (p.Glu1839Asp)
c.4881A>T (p.Glu1627Asp)
c.1671A>T (p.Glu557Asp)
 ClinVar dbSNP gnomAD v4
5g.177282510G>ACA362315850NSD1c.5065G>A (p.Glu1689Lys)
c.580G>A (p.Glu194Lys)
n.5521G>A
c.5629G>A (p.Glu1877Lys)
n.5335G>A
n.6085G>A
n.4487G>A
c.5938G>A (p.Glu1980Lys)
c.5131G>A (p.Glu1711Lys)
c.1432G>A (p.Glu478Lys)
c.5518G>A (p.Glu1840Lys)
c.4882G>A (p.Glu1628Lys)
c.1672G>A (p.Glu558Lys)
 dbSNP
5g.177282510G>CCA362315851NSD1c.5065G>C (p.Glu1689Gln)
c.580G>C (p.Glu194Gln)
n.5521G>C
c.5629G>C (p.Glu1877Gln)
n.5335G>C
n.6085G>C
n.4487G>C
c.5938G>C (p.Glu1980Gln)
c.5131G>C (p.Glu1711Gln)
c.1432G>C (p.Glu478Gln)
c.5518G>C (p.Glu1840Gln)
c.4882G>C (p.Glu1628Gln)
c.1672G>C (p.Glu558Gln)
5g.177282510G=CA1603552035NSD1c.5065G= (p.Glu1689=)
c.580G= (p.Glu194=)
n.5521G=
c.5629G= (p.Glu1877=)
n.5335G=
n.6085G=
n.4487G=
c.5938G= (p.Glu1980=)
c.5131G= (p.Glu1711=)
c.1432G= (p.Glu478=)
c.5518G= (p.Glu1840=)
c.4882G= (p.Glu1628=)
c.1672G= (p.Glu558=)
5g.177282510G>TCA295007NSD1c.5065G>T (p.Glu1689Ter)
c.580G>T (p.Glu194Ter)
n.5521G>T
c.5629G>T (p.Glu1877Ter)
n.5335G>T
n.6085G>T
n.4487G>T
c.5938G>T (p.Glu1980Ter)
c.5131G>T (p.Glu1711Ter)
c.1432G>T (p.Glu478Ter)
c.5518G>T (p.Glu1840Ter)
c.4882G>T (p.Glu1628Ter)
c.1672G>T (p.Glu558Ter)
 ClinVar dbSNP
5g.177282511A>CCA362315852NSD1c.5066A>C (p.Glu1689Ala)
c.581A>C (p.Glu194Ala)
n.5522A>C
c.5630A>C (p.Glu1877Ala)
n.5336A>C
n.6086A>C
n.4488A>C
c.5939A>C (p.Glu1980Ala)
c.5132A>C (p.Glu1711Ala)
c.1433A>C (p.Glu478Ala)
c.5519A>C (p.Glu1840Ala)
c.4883A>C (p.Glu1628Ala)
c.1673A>C (p.Glu558Ala)
5g.177282511A>GCA362315853NSD1c.5066A>G (p.Glu1689Gly)
c.581A>G (p.Glu194Gly)
n.5522A>G
c.5630A>G (p.Glu1877Gly)
n.5336A>G
n.6086A>G
n.4488A>G
c.5939A>G (p.Glu1980Gly)
c.5132A>G (p.Glu1711Gly)
c.1433A>G (p.Glu478Gly)
c.5519A>G (p.Glu1840Gly)
c.4883A>G (p.Glu1628Gly)
c.1673A>G (p.Glu558Gly)
 dbSNP
5g.177282511A>TCA362315854NSD1c.5066A>T (p.Glu1689Val)
c.581A>T (p.Glu194Val)
n.5522A>T
c.5630A>T (p.Glu1877Val)
n.5336A>T
n.6086A>T
n.4488A>T
c.5939A>T (p.Glu1980Val)
c.5132A>T (p.Glu1711Val)
c.1433A>T (p.Glu478Val)
c.5519A>T (p.Glu1840Val)
c.4883A>T (p.Glu1628Val)
c.1673A>T (p.Glu558Val)
 dbSNP
5g.177282512A>CCA362315855NSD1c.5067A>C (p.Glu1689Asp)
c.582A>C (p.Glu194Asp)
n.5523A>C
c.5631A>C (p.Glu1877Asp)
n.5337A>C
n.6087A>C
n.4489A>C
c.5940A>C (p.Glu1980Asp)
c.5133A>C (p.Glu1711Asp)
c.1434A>C (p.Glu478Asp)
c.5520A>C (p.Glu1840Asp)
c.4884A>C (p.Glu1628Asp)
c.1674A>C (p.Glu558Asp)
5g.177282512A>GCA447737474NSD1c.5067A>G (p.Glu1689=)
c.582A>G (p.Glu194=)
n.5523A>G
c.5631A>G (p.Glu1877=)
n.5337A>G
n.6087A>G
n.4489A>G
c.5940A>G (p.Glu1980=)
c.5133A>G (p.Glu1711=)
c.1434A>G (p.Glu478=)
c.5520A>G (p.Glu1840=)
c.4884A>G (p.Glu1628=)
c.1674A>G (p.Glu558=)
5g.177282512A>TCA362315856NSD1c.5067A>T (p.Glu1689Asp)
c.582A>T (p.Glu194Asp)
n.5523A>T
c.5631A>T (p.Glu1877Asp)
n.5337A>T
n.6087A>T
n.4489A>T
c.5940A>T (p.Glu1980Asp)
c.5133A>T (p.Glu1711Asp)
c.1434A>T (p.Glu478Asp)
c.5520A>T (p.Glu1840Asp)
c.4884A>T (p.Glu1628Asp)
c.1674A>T (p.Glu558Asp)
5g.177282513T>ACA362315857NSD1c.5068T>A (p.Cys1690Ser)
c.583T>A (p.Cys195Ser)
n.5524T>A
c.5632T>A (p.Cys1878Ser)
n.5338T>A
n.6088T>A
n.4490T>A
c.5941T>A (p.Cys1981Ser)
c.5134T>A (p.Cys1712Ser)
c.1435T>A (p.Cys479Ser)
c.5521T>A (p.Cys1841Ser)
c.4885T>A (p.Cys1629Ser)
c.1675T>A (p.Cys559Ser)
 dbSNP
5g.177282513T>CCA362315858NSD1c.5068T>C (p.Cys1690Arg)
c.583T>C (p.Cys195Arg)
n.5524T>C
c.5632T>C (p.Cys1878Arg)
n.5338T>C
n.6088T>C
n.4490T>C
c.5941T>C (p.Cys1981Arg)
c.5134T>C (p.Cys1712Arg)
c.1435T>C (p.Cys479Arg)
c.5521T>C (p.Cys1841Arg)
c.4885T>C (p.Cys1629Arg)
c.1675T>C (p.Cys559Arg)
5g.177282513T>GCA362315859NSD1c.5068T>G (p.Cys1690Gly)
c.583T>G (p.Cys195Gly)
n.5524T>G
c.5632T>G (p.Cys1878Gly)
n.5338T>G
n.6088T>G
n.4490T>G
c.5941T>G (p.Cys1981Gly)
c.5134T>G (p.Cys1712Gly)
c.1435T>G (p.Cys479Gly)
c.5521T>G (p.Cys1841Gly)
c.4885T>G (p.Cys1629Gly)
c.1675T>G (p.Cys559Gly)
 dbSNP
5g.177282514G>ACA362315862NSD1c.5069G>A (p.Cys1690Tyr)
c.584G>A (p.Cys195Tyr)
n.5525G>A
c.5633G>A (p.Cys1878Tyr)
n.5339G>A
n.6089G>A
n.4491G>A
c.5942G>A (p.Cys1981Tyr)
c.5135G>A (p.Cys1712Tyr)
c.1436G>A (p.Cys479Tyr)
c.5522G>A (p.Cys1841Tyr)
c.4886G>A (p.Cys1629Tyr)
c.1676G>A (p.Cys559Tyr)
 dbSNP
5g.177282514G>CCA362315860NSD1c.5069G>C (p.Cys1690Ser)
c.584G>C (p.Cys195Ser)
n.5525G>C
c.5633G>C (p.Cys1878Ser)
n.5339G>C
n.6089G>C
n.4491G>C
c.5942G>C (p.Cys1981Ser)
c.5135G>C (p.Cys1712Ser)
c.1436G>C (p.Cys479Ser)
c.5522G>C (p.Cys1841Ser)
c.4886G>C (p.Cys1629Ser)
c.1676G>C (p.Cys559Ser)
 dbSNP
5g.177282514G>TCA362315861NSD1c.5069G>T (p.Cys1690Phe)
c.584G>T (p.Cys195Phe)
n.5525G>T
c.5633G>T (p.Cys1878Phe)
n.5339G>T
n.6089G>T
n.4491G>T
c.5942G>T (p.Cys1981Phe)
c.5135G>T (p.Cys1712Phe)
c.1436G>T (p.Cys479Phe)
c.5522G>T (p.Cys1841Phe)
c.4886G>T (p.Cys1629Phe)
c.1676G>T (p.Cys559Phe)
5g.177282514_177282515delinsGCCA1603552039NSD1c.5069_5070delinsGC (p.Cys1690=)
c.584_585delinsGC (p.Cys195=)
n.5525_5526delinsGC
c.5633_5634delinsGC (p.Cys1878=)
n.5339_5340delinsGC
n.6089_6090delinsGC
n.4491_4492delinsGC
c.5942_5943delinsGC (p.Cys1981=)
c.5135_5136delinsGC (p.Cys1712=)
c.1436_1437delinsGC (p.Cys479=)
c.5522_5523delinsGC (p.Cys1841=)
c.4886_4887delinsGC (p.Cys1629=)
c.1676_1677delinsGC (p.Cys559=)
5g.177282515delCA10602954NSD1c.5070del (p.Cys1690Ter)
c.585del (p.Cys195Ter)
n.5526del
c.5634del (p.Cys1878Ter)
n.5340del
n.6090del
n.4492del
c.5943del (p.Cys1981Ter)
c.5136del (p.Cys1712Ter)
c.1437del (p.Cys479Ter)
c.5523del (p.Cys1841Ter)
c.4887del (p.Cys1629Ter)
c.1677del (p.Cys559Ter)
 ClinVar dbSNP
5g.177282515C>ACA362315863NSD1c.5070C>A (p.Cys1690Ter)
c.585C>A (p.Cys195Ter)
n.5526C>A
c.5634C>A (p.Cys1878Ter)
n.5340C>A
n.6090C>A
n.4492C>A
c.5943C>A (p.Cys1981Ter)
c.5136C>A (p.Cys1712Ter)
c.1437C>A (p.Cys479Ter)
c.5523C>A (p.Cys1841Ter)
c.4887C>A (p.Cys1629Ter)
c.1677C>A (p.Cys559Ter)
5g.177282515C=CA1603552048NSD1c.5070C= (p.Cys1690=)
c.585C= (p.Cys195=)
n.5526C=
c.5634C= (p.Cys1878=)
n.5340C=
n.6090C=
n.4492C=
c.5943C= (p.Cys1981=)
c.5136C= (p.Cys1712=)
c.1437C= (p.Cys479=)
c.5523C= (p.Cys1841=)
c.4887C= (p.Cys1629=)
c.1677C= (p.Cys559=)
5g.177282515C>GCA362315864NSD1c.5070C>G (p.Cys1690Trp)
c.585C>G (p.Cys195Trp)
n.5526C>G
c.5634C>G (p.Cys1878Trp)
n.5340C>G
n.6090C>G
n.4492C>G
c.5943C>G (p.Cys1981Trp)
c.5136C>G (p.Cys1712Trp)
c.1437C>G (p.Cys479Trp)
c.5523C>G (p.Cys1841Trp)
c.4887C>G (p.Cys1629Trp)
c.1677C>G (p.Cys559Trp)
5g.177282515C>TCA447737488NSD1c.5070C>T (p.Cys1690=)
c.585C>T (p.Cys195=)
n.5526C>T
c.5634C>T (p.Cys1878=)
n.5340C>T
n.6090C>T
n.4492C>T
c.5943C>T (p.Cys1981=)
c.5136C>T (p.Cys1712=)
c.1437C>T (p.Cys479=)
c.5523C>T (p.Cys1841=)
c.4887C>T (p.Cys1629=)
c.1677C>T (p.Cys559=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.177282516A>CCA447737492NSD1c.5071A>C (p.Arg1691=)
c.586A>C (p.Arg196=)
n.5527A>C
c.5635A>C (p.Arg1879=)
n.5341A>C
n.6091A>C
n.4493A>C
c.5944A>C (p.Arg1982=)
c.5137A>C (p.Arg1713=)
c.1438A>C (p.Arg480=)
c.5524A>C (p.Arg1842=)
c.4888A>C (p.Arg1630=)
c.1678A>C (p.Arg560=)
5g.177282516A>GCA362315865NSD1c.5071A>G (p.Arg1691Gly)
c.586A>G (p.Arg196Gly)
n.5527A>G
c.5635A>G (p.Arg1879Gly)
n.5341A>G
n.6091A>G
n.4493A>G
c.5944A>G (p.Arg1982Gly)
c.5137A>G (p.Arg1713Gly)
c.1438A>G (p.Arg480Gly)
c.5524A>G (p.Arg1842Gly)
c.4888A>G (p.Arg1630Gly)
c.1678A>G (p.Arg560Gly)
5g.177282516A>TCA362315866NSD1c.5071A>T (p.Arg1691Ter)
c.586A>T (p.Arg196Ter)
n.5527A>T
c.5635A>T (p.Arg1879Ter)
n.5341A>T
n.6091A>T
n.4493A>T
c.5944A>T (p.Arg1982Ter)
c.5137A>T (p.Arg1713Ter)
c.1438A>T (p.Arg480Ter)
c.5524A>T (p.Arg1842Ter)
c.4888A>T (p.Arg1630Ter)
c.1678A>T (p.Arg560Ter)
5g.177282517G>ACA362315867NSD1c.5072G>A (p.Arg1691Lys)
c.587G>A (p.Arg196Lys)
n.5528G>A
c.5636G>A (p.Arg1879Lys)
n.5342G>A
n.6092G>A
n.4494G>A
c.5945G>A (p.Arg1982Lys)
c.5138G>A (p.Arg1713Lys)
c.1439G>A (p.Arg480Lys)
c.5525G>A (p.Arg1842Lys)
c.4889G>A (p.Arg1630Lys)
c.1679G>A (p.Arg560Lys)
5g.177282517G>CCA362315868NSD1c.5072G>C (p.Arg1691Thr)
c.587G>C (p.Arg196Thr)
n.5528G>C
c.5636G>C (p.Arg1879Thr)
n.5342G>C
n.6092G>C
n.4494G>C
c.5945G>C (p.Arg1982Thr)
c.5138G>C (p.Arg1713Thr)
c.1439G>C (p.Arg480Thr)
c.5525G>C (p.Arg1842Thr)
c.4889G>C (p.Arg1630Thr)
c.1679G>C (p.Arg560Thr)
 dbSNP
5g.177282517G>TCA362315869NSD1c.5072G>T (p.Arg1691Ile)
c.587G>T (p.Arg196Ile)
n.5528G>T
c.5636G>T (p.Arg1879Ile)
n.5342G>T
n.6092G>T
n.4494G>T
c.5945G>T (p.Arg1982Ile)
c.5138G>T (p.Arg1713Ile)
c.1439G>T (p.Arg480Ile)
c.5525G>T (p.Arg1842Ile)
c.4889G>T (p.Arg1630Ile)
c.1679G>T (p.Arg560Ile)
 dbSNP
5g.177282518A>CCA362315870NSD1c.5073A>C (p.Arg1691Ser)
c.588A>C (p.Arg196Ser)
n.5529A>C
c.5637A>C (p.Arg1879Ser)
n.5343A>C
n.6093A>C
n.4495A>C
c.5946A>C (p.Arg1982Ser)
c.5139A>C (p.Arg1713Ser)
c.1440A>C (p.Arg480Ser)
c.5526A>C (p.Arg1842Ser)
c.4890A>C (p.Arg1630Ser)
c.1680A>C (p.Arg560Ser)
5g.177282518A>GCA447737504NSD1c.5073A>G (p.Arg1691=)
c.588A>G (p.Arg196=)
n.5529A>G
c.5637A>G (p.Arg1879=)
n.5343A>G
n.6093A>G
n.4495A>G
c.5946A>G (p.Arg1982=)
c.5139A>G (p.Arg1713=)
c.1440A>G (p.Arg480=)
c.5526A>G (p.Arg1842=)
c.4890A>G (p.Arg1630=)
c.1680A>G (p.Arg560=)
 gnomAD v4
5g.177282518A>TCA362315871NSD1c.5073A>T (p.Arg1691Ser)
c.588A>T (p.Arg196Ser)
n.5529A>T
c.5637A>T (p.Arg1879Ser)
n.5343A>T
n.6093A>T
n.4495A>T
c.5946A>T (p.Arg1982Ser)
c.5139A>T (p.Arg1713Ser)
c.1440A>T (p.Arg480Ser)
c.5526A>T (p.Arg1842Ser)
c.4890A>T (p.Arg1630Ser)
c.1680A>T (p.Arg560Ser)
 dbSNP
5g.177282519G>ACA362315872NSD1c.5074G>A (p.Ala1692Thr)
c.589G>A (p.Ala197Thr)
n.5530G>A
c.5638G>A (p.Ala1880Thr)
n.5344G>A
n.6094G>A
n.4496G>A
c.5947G>A (p.Ala1983Thr)
c.5140G>A (p.Ala1714Thr)
c.1441G>A (p.Ala481Thr)
c.5527G>A (p.Ala1843Thr)
c.4891G>A (p.Ala1631Thr)
c.1681G>A (p.Ala561Thr)
5g.177282519G>CCA362315873NSD1c.5074G>C (p.Ala1692Pro)
c.589G>C (p.Ala197Pro)
n.5530G>C
c.5638G>C (p.Ala1880Pro)
n.5344G>C
n.6094G>C
n.4496G>C
c.5947G>C (p.Ala1983Pro)
c.5140G>C (p.Ala1714Pro)
c.1441G>C (p.Ala481Pro)
c.5527G>C (p.Ala1843Pro)
c.4891G>C (p.Ala1631Pro)
c.1681G>C (p.Ala561Pro)
 dbSNP
5g.177282519G>TCA362315874NSD1c.5074G>T (p.Ala1692Ser)
c.589G>T (p.Ala197Ser)
n.5530G>T
c.5638G>T (p.Ala1880Ser)
n.5344G>T
n.6094G>T
n.4496G>T
c.5947G>T (p.Ala1983Ser)
c.5140G>T (p.Ala1714Ser)
c.1441G>T (p.Ala481Ser)
c.5527G>T (p.Ala1843Ser)
c.4891G>T (p.Ala1631Ser)
c.1681G>T (p.Ala561Ser)
5g.177282520C>ACA362315877NSD1c.5075C>A (p.Ala1692Asp)
c.590C>A (p.Ala197Asp)
n.5531C>A
c.5639C>A (p.Ala1880Asp)
n.5345C>A
n.6095C>A
n.4497C>A
c.5948C>A (p.Ala1983Asp)
c.5141C>A (p.Ala1714Asp)
c.1442C>A (p.Ala481Asp)
c.5528C>A (p.Ala1843Asp)
c.4892C>A (p.Ala1631Asp)
c.1682C>A (p.Ala561Asp)
5g.177282520C>GCA362315876NSD1c.5075C>G (p.Ala1692Gly)
c.590C>G (p.Ala197Gly)
n.5531C>G
c.5639C>G (p.Ala1880Gly)
n.5345C>G
n.6095C>G
n.4497C>G
c.5948C>G (p.Ala1983Gly)
c.5141C>G (p.Ala1714Gly)
c.1442C>G (p.Ala481Gly)
c.5528C>G (p.Ala1843Gly)
c.4892C>G (p.Ala1631Gly)
c.1682C>G (p.Ala561Gly)
 dbSNP
5g.177282520C>TCA362315875NSD1c.5075C>T (p.Ala1692Val)
c.590C>T (p.Ala197Val)
n.5531C>T
c.5639C>T (p.Ala1880Val)
n.5345C>T
n.6095C>T
n.4497C>T
c.5948C>T (p.Ala1983Val)
c.5141C>T (p.Ala1714Val)
c.1442C>T (p.Ala481Val)
c.5528C>T (p.Ala1843Val)
c.4892C>T (p.Ala1631Val)
c.1682C>T (p.Ala561Val)
 dbSNP gnomAD v4
5g.177282521T>ACA447737521NSD1c.5076T>A (p.Ala1692=)
c.591T>A (p.Ala197=)
n.5532T>A
c.5640T>A (p.Ala1880=)
n.5346T>A
n.6096T>A
n.4498T>A
c.5949T>A (p.Ala1983=)
c.5142T>A (p.Ala1714=)
c.1443T>A (p.Ala481=)
c.5529T>A (p.Ala1843=)
c.4893T>A (p.Ala1631=)
c.1683T>A (p.Ala561=)
 dbSNP
5g.177282521T>CCA447737517NSD1c.5076T>C (p.Ala1692=)
c.591T>C (p.Ala197=)
n.5532T>C
c.5640T>C (p.Ala1880=)
n.5346T>C
n.6096T>C
n.4498T>C
c.5949T>C (p.Ala1983=)
c.5142T>C (p.Ala1714=)
c.1443T>C (p.Ala481=)
c.5529T>C (p.Ala1843=)
c.4893T>C (p.Ala1631=)
c.1683T>C (p.Ala561=)
5g.177282521T>GCA447737519NSD1c.5076T>G (p.Ala1692=)
c.591T>G (p.Ala197=)
n.5532T>G
c.5640T>G (p.Ala1880=)
n.5346T>G
n.6096T>G
n.4498T>G
c.5949T>G (p.Ala1983=)
c.5142T>G (p.Ala1714=)
c.1443T>G (p.Ala481=)
c.5529T>G (p.Ala1843=)
c.4893T>G (p.Ala1631=)
c.1683T>G (p.Ala561=)
5g.177282522C>ACA447737523NSD1c.5077C>A (p.Arg1693=)
c.592C>A (p.Arg198=)
n.5533C>A
c.5641C>A (p.Arg1881=)
n.5347C>A
n.6097C>A
n.4499C>A
c.5950C>A (p.Arg1984=)
c.5143C>A (p.Arg1715=)
c.1444C>A (p.Arg482=)
c.5530C>A (p.Arg1844=)
c.4894C>A (p.Arg1632=)
c.1684C>A (p.Arg562=)
 dbSNP
5g.177282522C=CA1603552055NSD1c.5077C= (p.Arg1693=)
c.592C= (p.Arg198=)
n.5533C=
c.5641C= (p.Arg1881=)
n.5347C=
n.6097C=
n.4499C=
c.5950C= (p.Arg1984=)
c.5143C= (p.Arg1715=)
c.1444C= (p.Arg482=)
c.5530C= (p.Arg1844=)
c.4894C= (p.Arg1632=)
c.1684C= (p.Arg562=)
5g.177282522C>GCA362315878NSD1c.5077C>G (p.Arg1693Gly)
c.592C>G (p.Arg198Gly)
n.5533C>G
c.5641C>G (p.Arg1881Gly)
n.5347C>G
n.6097C>G
n.4499C>G
c.5950C>G (p.Arg1984Gly)
c.5143C>G (p.Arg1715Gly)
c.1444C>G (p.Arg482Gly)
c.5530C>G (p.Arg1844Gly)
c.4894C>G (p.Arg1632Gly)
c.1684C>G (p.Arg562Gly)
 dbSNP
5g.177282522C>TCA319683NSD1c.5077C>T (p.Arg1693Ter)
c.592C>T (p.Arg198Ter)
n.5533C>T
c.5641C>T (p.Arg1881Ter)
n.5347C>T
n.6097C>T
n.4499C>T
c.5950C>T (p.Arg1984Ter)
c.5143C>T (p.Arg1715Ter)
c.1444C>T (p.Arg482Ter)
c.5530C>T (p.Arg1844Ter)
c.4894C>T (p.Arg1632Ter)
c.1684C>T (p.Arg562Ter)
 ClinVar dbSNP COSMIC COSMIC
5g.177282523G>ACA295010NSD1c.5078G>A (p.Arg1693Gln)
c.593G>A (p.Arg198Gln)
n.5534G>A
c.5642G>A (p.Arg1881Gln)
n.5348G>A
n.6098G>A
n.4500G>A
c.5951G>A (p.Arg1984Gln)
c.5144G>A (p.Arg1715Gln)
c.1445G>A (p.Arg482Gln)
c.5531G>A (p.Arg1844Gln)
c.4895G>A (p.Arg1632Gln)
c.1685G>A (p.Arg562Gln)
 ClinVar dbSNP COSMIC
5g.177282523G>CCA362315879NSD1c.5078G>C (p.Arg1693Pro)
c.593G>C (p.Arg198Pro)
n.5534G>C
c.5642G>C (p.Arg1881Pro)
n.5348G>C
n.6098G>C
n.4500G>C
c.5951G>C (p.Arg1984Pro)
c.5144G>C (p.Arg1715Pro)
c.1445G>C (p.Arg482Pro)
c.5531G>C (p.Arg1844Pro)
c.4895G>C (p.Arg1632Pro)
c.1685G>C (p.Arg562Pro)
 ClinVar dbSNP
5g.177282523G=CA1603552067NSD1c.5078G= (p.Arg1693=)
c.593G= (p.Arg198=)
n.5534G=
c.5642G= (p.Arg1881=)
n.5348G=
n.6098G=
n.4500G=
c.5951G= (p.Arg1984=)
c.5144G= (p.Arg1715=)
c.1445G= (p.Arg482=)
c.5531G= (p.Arg1844=)
c.4895G= (p.Arg1632=)
c.1685G= (p.Arg562=)
5g.177282523G>TCA362315880NSD1c.5078G>T (p.Arg1693Leu)
c.593G>T (p.Arg198Leu)
n.5534G>T
c.5642G>T (p.Arg1881Leu)
n.5348G>T
n.6098G>T
n.4500G>T
c.5951G>T (p.Arg1984Leu)
c.5144G>T (p.Arg1715Leu)
c.1445G>T (p.Arg482Leu)
c.5531G>T (p.Arg1844Leu)
c.4895G>T (p.Arg1632Leu)
c.1685G>T (p.Arg562Leu)
 dbSNP COSMIC COSMIC
5g.177282524A=CA1603552070NSD1c.5079A= (p.Arg1693=)
c.594A= (p.Arg198=)
n.5535A=
c.5643A= (p.Arg1881=)
n.5349A=
n.6099A=
n.4501A=
c.5952A= (p.Arg1984=)
c.5145A= (p.Arg1715=)
c.1446A= (p.Arg482=)
c.5532A= (p.Arg1844=)
c.4896A= (p.Arg1632=)
c.1686A= (p.Arg562=)
5g.177282524A>CCA447737533NSD1c.5079A>C (p.Arg1693=)
c.594A>C (p.Arg198=)
n.5535A>C
c.5643A>C (p.Arg1881=)
n.5349A>C
n.6099A>C
n.4501A>C
c.5952A>C (p.Arg1984=)
c.5145A>C (p.Arg1715=)
c.1446A>C (p.Arg482=)
c.5532A>C (p.Arg1844=)
c.4896A>C (p.Arg1632=)
c.1686A>C (p.Arg562=)
5g.177282524A>GCA3577918NSD1c.5079A>G (p.Arg1693=)
c.594A>G (p.Arg198=)
n.5535A>G
c.5643A>G (p.Arg1881=)
n.5349A>G
n.6099A>G
n.4501A>G
c.5952A>G (p.Arg1984=)
c.5145A>G (p.Arg1715=)
c.1446A>G (p.Arg482=)
c.5532A>G (p.Arg1844=)
c.4896A>G (p.Arg1632=)
c.1686A>G (p.Arg562=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.177282524A>TCA447737537NSD1c.5079A>T (p.Arg1693=)
c.594A>T (p.Arg198=)
n.5535A>T
c.5643A>T (p.Arg1881=)
n.5349A>T
n.6099A>T
n.4501A>T
c.5952A>T (p.Arg1984=)
c.5145A>T (p.Arg1715=)
c.1446A>T (p.Arg482=)
c.5532A>T (p.Arg1844=)
c.4896A>T (p.Arg1632=)
c.1686A>T (p.Arg562=)
5g.177282525A>CCA362315881NSD1c.5080A>C (p.Ile1694Leu)
c.595A>C (p.Ile199Leu)
n.5536A>C
c.5644A>C (p.Ile1882Leu)
n.5350A>C
n.6100A>C
n.4502A>C
c.5953A>C (p.Ile1985Leu)
c.5146A>C (p.Ile1716Leu)
c.1447A>C (p.Ile483Leu)
c.5533A>C (p.Ile1845Leu)
c.4897A>C (p.Ile1633Leu)
c.1687A>C (p.Ile563Leu)
5g.177282525A>GCA362315882NSD1c.5080A>G (p.Ile1694Val)
c.595A>G (p.Ile199Val)
n.5536A>G
c.5644A>G (p.Ile1882Val)
n.5350A>G
n.6100A>G
n.4502A>G
c.5953A>G (p.Ile1985Val)
c.5146A>G (p.Ile1716Val)
c.1447A>G (p.Ile483Val)
c.5533A>G (p.Ile1845Val)
c.4897A>G (p.Ile1633Val)
c.1687A>G (p.Ile563Val)
5g.177282525A>TCA362315883NSD1c.5080A>T (p.Ile1694Phe)
c.595A>T (p.Ile199Phe)
n.5536A>T
c.5644A>T (p.Ile1882Phe)
n.5350A>T
n.6100A>T
n.4502A>T
c.5953A>T (p.Ile1985Phe)
c.5146A>T (p.Ile1716Phe)
c.1447A>T (p.Ile483Phe)
c.5533A>T (p.Ile1845Phe)
c.4897A>T (p.Ile1633Phe)
c.1687A>T (p.Ile563Phe)
5g.177282526T>ACA362315884NSD1c.5081T>A (p.Ile1694Asn)
c.596T>A (p.Ile199Asn)
n.5537T>A
c.5645T>A (p.Ile1882Asn)
n.5351T>A
n.6101T>A
n.4503T>A
c.5954T>A (p.Ile1985Asn)
c.5147T>A (p.Ile1716Asn)
c.1448T>A (p.Ile483Asn)
c.5534T>A (p.Ile1845Asn)
c.4898T>A (p.Ile1633Asn)
c.1688T>A (p.Ile563Asn)
 dbSNP
5g.177282526T>CCA362315885NSD1c.5081T>C (p.Ile1694Thr)
c.596T>C (p.Ile199Thr)
n.5537T>C
c.5645T>C (p.Ile1882Thr)
n.5351T>C
n.6101T>C
n.4503T>C
c.5954T>C (p.Ile1985Thr)
c.5147T>C (p.Ile1716Thr)
c.1448T>C (p.Ile483Thr)
c.5534T>C (p.Ile1845Thr)
c.4898T>C (p.Ile1633Thr)
c.1688T>C (p.Ile563Thr)
5g.177282526T>GCA362315886NSD1c.5081T>G (p.Ile1694Ser)
c.596T>G (p.Ile199Ser)
n.5537T>G
c.5645T>G (p.Ile1882Ser)
n.5351T>G
n.6101T>G
n.4503T>G
c.5954T>G (p.Ile1985Ser)
c.5147T>G (p.Ile1716Ser)
c.1448T>G (p.Ile483Ser)
c.5534T>G (p.Ile1845Ser)
c.4898T>G (p.Ile1633Ser)
c.1688T>G (p.Ile563Ser)
 dbSNP
5g.177282527T>ACA447737540NSD1c.5082T>A (p.Ile1694=)
c.597T>A (p.Ile199=)
n.5538T>A
c.5646T>A (p.Ile1882=)
n.5352T>A
n.6102T>A
n.4504T>A
c.5955T>A (p.Ile1985=)
c.5148T>A (p.Ile1716=)
c.1449T>A (p.Ile483=)
c.5535T>A (p.Ile1845=)
c.4899T>A (p.Ile1633=)
c.1689T>A (p.Ile563=)
 dbSNP
5g.177282527T>CCA447737544NSD1c.5082T>C (p.Ile1694=)
c.597T>C (p.Ile199=)
n.5538T>C
c.5646T>C (p.Ile1882=)
n.5352T>C
n.6102T>C
n.4504T>C
c.5955T>C (p.Ile1985=)
c.5148T>C (p.Ile1716=)
c.1449T>C (p.Ile483=)
c.5535T>C (p.Ile1845=)
c.4899T>C (p.Ile1633=)
c.1689T>C (p.Ile563=)
5g.177282527T>GCA362315887NSD1c.5082T>G (p.Ile1694Met)
c.597T>G (p.Ile199Met)
n.5538T>G
c.5646T>G (p.Ile1882Met)
n.5352T>G
n.6102T>G
n.4504T>G
c.5955T>G (p.Ile1985Met)
c.5148T>G (p.Ile1716Met)
c.1449T>G (p.Ile483Met)
c.5535T>G (p.Ile1845Met)
c.4899T>G (p.Ile1633Met)
c.1689T>G (p.Ile563Met)
5g.177282528C>ACA362315889NSD1c.5083C>A (p.Arg1695Ser)
c.598C>A (p.Arg200Ser)
n.5539C>A
c.5647C>A (p.Arg1883Ser)
n.5353C>A
n.6103C>A
n.4505C>A
c.5956C>A (p.Arg1986Ser)
c.5149C>A (p.Arg1717Ser)
c.1450C>A (p.Arg484Ser)
c.5536C>A (p.Arg1846Ser)
c.4900C>A (p.Arg1634Ser)
c.1690C>A (p.Arg564Ser)
5g.177282528C=CA1603552072NSD1c.5083C= (p.Arg1695=)
c.598C= (p.Arg200=)
n.5539C=
c.5647C= (p.Arg1883=)
n.5353C=
n.6103C=
n.4505C=
c.5956C= (p.Arg1986=)
c.5149C= (p.Arg1717=)
c.1450C= (p.Arg484=)
c.5536C= (p.Arg1846=)
c.4900C= (p.Arg1634=)
c.1690C= (p.Arg564=)
5g.177282528C>GCA362315888NSD1c.5083C>G (p.Arg1695Gly)
c.598C>G (p.Arg200Gly)
n.5539C>G
c.5647C>G (p.Arg1883Gly)
n.5353C>G
n.6103C>G
n.4505C>G
c.5956C>G (p.Arg1986Gly)
c.5149C>G (p.Arg1717Gly)
c.1450C>G (p.Arg484Gly)
c.5536C>G (p.Arg1846Gly)
c.4900C>G (p.Arg1634Gly)
c.1690C>G (p.Arg564Gly)
 dbSNP gnomAD v4
5g.177282528C>TCA3577919NSD1c.5083C>T (p.Arg1695Cys)
c.598C>T (p.Arg200Cys)
n.5539C>T
c.5647C>T (p.Arg1883Cys)
n.5353C>T
n.6103C>T
n.4505C>T
c.5956C>T (p.Arg1986Cys)
c.5149C>T (p.Arg1717Cys)
c.1450C>T (p.Arg484Cys)
c.5536C>T (p.Arg1846Cys)
c.4900C>T (p.Arg1634Cys)
c.1690C>T (p.Arg564Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.177282529G>ACA3577920NSD1c.5084G>A (p.Arg1695His)
c.599G>A (p.Arg200His)
n.5540G>A
c.5648G>A (p.Arg1883His)
n.5354G>A
n.6104G>A
n.4506G>A
c.5957G>A (p.Arg1986His)
c.5150G>A (p.Arg1717His)
c.1451G>A (p.Arg484His)
c.5537G>A (p.Arg1846His)
c.4901G>A (p.Arg1634His)
c.1691G>A (p.Arg564His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
5g.177282529G>CCA362315890NSD1c.5084G>C (p.Arg1695Pro)
c.599G>C (p.Arg200Pro)
n.5540G>C
c.5648G>C (p.Arg1883Pro)
n.5354G>C
n.6104G>C
n.4506G>C
c.5957G>C (p.Arg1986Pro)
c.5150G>C (p.Arg1717Pro)
c.1451G>C (p.Arg484Pro)
c.5537G>C (p.Arg1846Pro)
c.4901G>C (p.Arg1634Pro)
c.1691G>C (p.Arg564Pro)
 dbSNP
5g.177282529G=CA1603552075NSD1c.5084G= (p.Arg1695=)
c.599G= (p.Arg200=)
n.5540G=
c.5648G= (p.Arg1883=)
n.5354G=
n.6104G=
n.4506G=
c.5957G= (p.Arg1986=)
c.5150G= (p.Arg1717=)
c.1451G= (p.Arg484=)
c.5537G= (p.Arg1846=)
c.4901G= (p.Arg1634=)
c.1691G= (p.Arg564=)
5g.177282529G>TCA362315891NSD1c.5084G>T (p.Arg1695Leu)
c.599G>T (p.Arg200Leu)
n.5540G>T
c.5648G>T (p.Arg1883Leu)
n.5354G>T
n.6104G>T
n.4506G>T
c.5957G>T (p.Arg1986Leu)
c.5150G>T (p.Arg1717Leu)
c.1451G>T (p.Arg484Leu)
c.5537G>T (p.Arg1846Leu)
c.4901G>T (p.Arg1634Leu)
c.1691G>T (p.Arg564Leu)
 dbSNP gnomAD v2 gnomAD v4
5g.177282529dupCA2695205731NSD1c.5084dup (p.Tyr1696LeufsTer6)
c.599dup (p.Tyr201LeufsTer6)
n.5540dup
c.5648dup (p.Tyr1884LeufsTer6)
n.5354dup
n.6104dup
n.4506dup
c.5957dup (p.Tyr1987LeufsTer6)
c.5150dup (p.Tyr1718LeufsTer6)
c.1451dup (p.Tyr485LeufsTer6)
c.5537dup (p.Tyr1847LeufsTer6)
c.4901dup (p.Tyr1635LeufsTer6)
c.1691dup (p.Tyr565LeufsTer6)
5g.177282530C>ACA447737553NSD1c.5085C>A (p.Arg1695=)
c.600C>A (p.Arg200=)
n.5541C>A
c.5649C>A (p.Arg1883=)
n.5355C>A
n.6105C>A
n.4507C>A
c.5958C>A (p.Arg1986=)
c.5151C>A (p.Arg1717=)
c.1452C>A (p.Arg484=)
c.5538C>A (p.Arg1846=)
c.4902C>A (p.Arg1634=)
c.1692C>A (p.Arg564=)
 dbSNP
5g.177282530C>GCA447737556NSD1c.5085C>G (p.Arg1695=)
c.600C>G (p.Arg200=)
n.5541C>G
c.5649C>G (p.Arg1883=)
n.5355C>G
n.6105C>G
n.4507C>G
c.5958C>G (p.Arg1986=)
c.5151C>G (p.Arg1717=)
c.1452C>G (p.Arg484=)
c.5538C>G (p.Arg1846=)
c.4902C>G (p.Arg1634=)
c.1692C>G (p.Arg564=)
 dbSNP
5g.177282530C>TCA447737557NSD1c.5085C>T (p.Arg1695=)
c.600C>T (p.Arg200=)
n.5541C>T
c.5649C>T (p.Arg1883=)
n.5355C>T
n.6105C>T
n.4507C>T
c.5958C>T (p.Arg1986=)
c.5151C>T (p.Arg1717=)
c.1452C>T (p.Arg484=)
c.5538C>T (p.Arg1846=)
c.4902C>T (p.Arg1634=)
c.1692C>T (p.Arg564=)
 dbSNP
5g.177282531T>ACA362315892NSD1c.5086T>A (p.Tyr1696Asn)
c.601T>A (p.Tyr201Asn)
n.5542T>A
c.5650T>A (p.Tyr1884Asn)
n.5356T>A
n.6106T>A
n.4508T>A
c.5959T>A (p.Tyr1987Asn)
c.5152T>A (p.Tyr1718Asn)
c.1453T>A (p.Tyr485Asn)
c.5539T>A (p.Tyr1847Asn)
c.4903T>A (p.Tyr1635Asn)
c.1693T>A (p.Tyr565Asn)
 dbSNP
5g.177282531T>CCA362315893NSD1c.5086T>C (p.Tyr1696His)
c.601T>C (p.Tyr201His)
n.5542T>C
c.5650T>C (p.Tyr1884His)
n.5356T>C
n.6106T>C
n.4508T>C
c.5959T>C (p.Tyr1987His)
c.5152T>C (p.Tyr1718His)
c.1453T>C (p.Tyr485His)
c.5539T>C (p.Tyr1847His)
c.4903T>C (p.Tyr1635His)
c.1693T>C (p.Tyr565His)
5g.177282531T>GCA362315894NSD1c.5086T>G (p.Tyr1696Asp)
c.601T>G (p.Tyr201Asp)
n.5542T>G
c.5650T>G (p.Tyr1884Asp)
n.5356T>G
n.6106T>G
n.4508T>G
c.5959T>G (p.Tyr1987Asp)
c.5152T>G (p.Tyr1718Asp)
c.1453T>G (p.Tyr485Asp)
c.5539T>G (p.Tyr1847Asp)
c.4903T>G (p.Tyr1635Asp)
c.1693T>G (p.Tyr565Asp)
5g.177282532A=CA1603552080NSD1c.5087A= (p.Tyr1696=)
c.602A= (p.Tyr201=)
n.5543A=
c.5651A= (p.Tyr1884=)
n.5357A=
n.6107A=
n.4509A=
c.5960A= (p.Tyr1987=)
c.5153A= (p.Tyr1718=)
c.1454A= (p.Tyr485=)
c.5540A= (p.Tyr1847=)
c.4904A= (p.Tyr1635=)
c.1694A= (p.Tyr565=)
5g.177282532A>CCA362315895NSD1c.5087A>C (p.Tyr1696Ser)
c.602A>C (p.Tyr201Ser)
n.5543A>C
c.5651A>C (p.Tyr1884Ser)
n.5357A>C
n.6107A>C
n.4509A>C
c.5960A>C (p.Tyr1987Ser)
c.5153A>C (p.Tyr1718Ser)
c.1454A>C (p.Tyr485Ser)
c.5540A>C (p.Tyr1847Ser)
c.4904A>C (p.Tyr1635Ser)
c.1694A>C (p.Tyr565Ser)
5g.177282532A>GCA132848968NSD1c.5087A>G (p.Tyr1696Cys)
c.602A>G (p.Tyr201Cys)
n.5543A>G
c.5651A>G (p.Tyr1884Cys)
n.5357A>G
n.6107A>G
n.4509A>G
c.5960A>G (p.Tyr1987Cys)
c.5153A>G (p.Tyr1718Cys)
c.1454A>G (p.Tyr485Cys)
c.5540A>G (p.Tyr1847Cys)
c.4904A>G (p.Tyr1635Cys)
c.1694A>G (p.Tyr565Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
5g.177282532A>TCA362315896NSD1c.5087A>T (p.Tyr1696Phe)
c.602A>T (p.Tyr201Phe)
n.5543A>T
c.5651A>T (p.Tyr1884Phe)
n.5357A>T
n.6107A>T
n.4509A>T
c.5960A>T (p.Tyr1987Phe)
c.5153A>T (p.Tyr1718Phe)
c.1454A>T (p.Tyr485Phe)
c.5540A>T (p.Tyr1847Phe)
c.4904A>T (p.Tyr1635Phe)
c.1694A>T (p.Tyr565Phe)
 dbSNP
5g.177282533T>ACA362315897NSD1c.5088T>A (p.Tyr1696Ter)
c.603T>A (p.Tyr201Ter)
n.5544T>A
c.5652T>A (p.Tyr1884Ter)
n.5358T>A
n.6108T>A
n.4510T>A
c.5961T>A (p.Tyr1987Ter)
c.5154T>A (p.Tyr1718Ter)
c.1455T>A (p.Tyr485Ter)
c.5541T>A (p.Tyr1847Ter)
c.4905T>A (p.Tyr1635Ter)
c.1695T>A (p.Tyr565Ter)
 dbSNP
5g.177282533T>CCA447737568NSD1c.5088T>C (p.Tyr1696=)
c.603T>C (p.Tyr201=)
n.5544T>C
c.5652T>C (p.Tyr1884=)
n.5358T>C
n.6108T>C
n.4510T>C
c.5961T>C (p.Tyr1987=)
c.5154T>C (p.Tyr1718=)
c.1455T>C (p.Tyr485=)
c.5541T>C (p.Tyr1847=)
c.4905T>C (p.Tyr1635=)
c.1695T>C (p.Tyr565=)
5g.177282533T>GCA362315898NSD1c.5088T>G (p.Tyr1696Ter)
c.603T>G (p.Tyr201Ter)
n.5544T>G
c.5652T>G (p.Tyr1884Ter)
n.5358T>G
n.6108T>G
n.4510T>G
c.5961T>G (p.Tyr1987Ter)
c.5154T>G (p.Tyr1718Ter)
c.1455T>G (p.Tyr485Ter)
c.5541T>G (p.Tyr1847Ter)
c.4905T>G (p.Tyr1635Ter)
c.1695T>G (p.Tyr565Ter)
 dbSNP
5g.177282534G>ACA362315899NSD1c.5089G>A (p.Ala1697Thr)
c.604G>A (p.Ala202Thr)
n.5545G>A
c.5653G>A (p.Ala1885Thr)
n.5359G>A
n.6109G>A
n.4511G>A
c.5962G>A (p.Ala1988Thr)
c.5155G>A (p.Ala1719Thr)
c.1456G>A (p.Ala486Thr)
c.5542G>A (p.Ala1848Thr)
c.4906G>A (p.Ala1636Thr)
c.1696G>A (p.Ala566Thr)
 dbSNP
5g.177282534G>CCA362315900NSD1c.5089G>C (p.Ala1697Pro)
c.604G>C (p.Ala202Pro)
n.5545G>C
c.5653G>C (p.Ala1885Pro)
n.5359G>C
n.6109G>C
n.4511G>C
c.5962G>C (p.Ala1988Pro)
c.5155G>C (p.Ala1719Pro)
c.1456G>C (p.Ala486Pro)
c.5542G>C (p.Ala1848Pro)
c.4906G>C (p.Ala1636Pro)
c.1696G>C (p.Ala566Pro)
 dbSNP
5g.177282534G>TCA362315901NSD1c.5089G>T (p.Ala1697Ser)
c.604G>T (p.Ala202Ser)
n.5545G>T
c.5653G>T (p.Ala1885Ser)
n.5359G>T
n.6109G>T
n.4511G>T
c.5962G>T (p.Ala1988Ser)
c.5155G>T (p.Ala1719Ser)
c.1456G>T (p.Ala486Ser)
c.5542G>T (p.Ala1848Ser)
c.4906G>T (p.Ala1636Ser)
c.1696G>T (p.Ala566Ser)
 dbSNP
5g.177282535C>ACA362315904NSD1c.5090C>A (p.Ala1697Asp)
c.605C>A (p.Ala202Asp)
n.5546C>A
c.5654C>A (p.Ala1885Asp)
n.5360C>A
n.6110C>A
n.4512C>A
c.5963C>A (p.Ala1988Asp)
c.5156C>A (p.Ala1719Asp)
c.1457C>A (p.Ala486Asp)
c.5543C>A (p.Ala1848Asp)
c.4907C>A (p.Ala1636Asp)
c.1697C>A (p.Ala566Asp)
 dbSNP
5g.177282535C=CA1603552086NSD1c.5090C= (p.Ala1697=)
c.605C= (p.Ala202=)
n.5546C=
c.5654C= (p.Ala1885=)
n.5360C=
n.6110C=
n.4512C=
c.5963C= (p.Ala1988=)
c.5156C= (p.Ala1719=)
c.1457C= (p.Ala486=)
c.5543C= (p.Ala1848=)
c.4907C= (p.Ala1636=)
c.1697C= (p.Ala566=)
5g.177282535C>GCA362315903NSD1c.5090C>G (p.Ala1697Gly)
c.605C>G (p.Ala202Gly)
n.5546C>G
c.5654C>G (p.Ala1885Gly)
n.5360C>G
n.6110C>G
n.4512C>G
c.5963C>G (p.Ala1988Gly)
c.5156C>G (p.Ala1719Gly)
c.1457C>G (p.Ala486Gly)
c.5543C>G (p.Ala1848Gly)
c.4907C>G (p.Ala1636Gly)
c.1697C>G (p.Ala566Gly)
 dbSNP
5g.177282535C>TCA362315902NSD1c.5090C>T (p.Ala1697Val)
c.605C>T (p.Ala202Val)
n.5546C>T
c.5654C>T (p.Ala1885Val)
n.5360C>T
n.6110C>T
n.4512C>T
c.5963C>T (p.Ala1988Val)
c.5156C>T (p.Ala1719Val)
c.1457C>T (p.Ala486Val)
c.5543C>T (p.Ala1848Val)
c.4907C>T (p.Ala1636Val)
c.1697C>T (p.Ala566Val)
 dbSNP
5g.177282536T>ACA447737575NSD1c.5091T>A (p.Ala1697=)
c.606T>A (p.Ala202=)
n.5547T>A
c.5655T>A (p.Ala1885=)
n.5361T>A
n.6111T>A
n.4513T>A
c.5964T>A (p.Ala1988=)
c.5157T>A (p.Ala1719=)
c.1458T>A (p.Ala486=)
c.5544T>A (p.Ala1848=)
c.4908T>A (p.Ala1636=)
c.1698T>A (p.Ala566=)
 dbSNP gnomAD v4
5g.177282536T>CCA447737577NSD1c.5091T>C (p.Ala1697=)
c.606T>C (p.Ala202=)
n.5547T>C
c.5655T>C (p.Ala1885=)
n.5361T>C
n.6111T>C
n.4513T>C
c.5964T>C (p.Ala1988=)
c.5157T>C (p.Ala1719=)
c.1458T>C (p.Ala486=)
c.5544T>C (p.Ala1848=)
c.4908T>C (p.Ala1636=)
c.1698T>C (p.Ala566=)
 dbSNP gnomAD v4
5g.177282536T>GCA447737582NSD1c.5091T>G (p.Ala1697=)
c.606T>G (p.Ala202=)
n.5547T>G
c.5655T>G (p.Ala1885=)
n.5361T>G
n.6111T>G
n.4513T>G
c.5964T>G (p.Ala1988=)
c.5157T>G (p.Ala1719=)
c.1458T>G (p.Ala486=)
c.5544T>G (p.Ala1848=)
c.4908T>G (p.Ala1636=)
c.1698T>G (p.Ala566=)
5g.177282537C>ACA362315905NSD1c.5092C>A (p.Gln1698Lys)
c.607C>A (p.Gln203Lys)
n.5548C>A
c.5656C>A (p.Gln1886Lys)
n.5362C>A
n.6112C>A
n.4514C>A
c.5965C>A (p.Gln1989Lys)
c.5158C>A (p.Gln1720Lys)
c.1459C>A (p.Gln487Lys)
c.5545C>A (p.Gln1849Lys)
c.4909C>A (p.Gln1637Lys)
c.1699C>A (p.Gln567Lys)
 COSMIC COSMIC
5g.177282537C=CA1603552092NSD1c.5092C= (p.Gln1698=)
c.607C= (p.Gln203=)
n.5548C=
c.5656C= (p.Gln1886=)
n.5362C=
n.6112C=
n.4514C=
c.5965C= (p.Gln1989=)
c.5158C= (p.Gln1720=)
c.1459C= (p.Gln487=)
c.5545C= (p.Gln1849=)
c.4909C= (p.Gln1637=)
c.1699C= (p.Gln567=)
5g.177282537C>GCA362315906NSD1c.5092C>G (p.Gln1698Glu)
c.607C>G (p.Gln203Glu)
n.5548C>G
c.5656C>G (p.Gln1886Glu)
n.5362C>G
n.6112C>G
n.4514C>G
c.5965C>G (p.Gln1989Glu)
c.5158C>G (p.Gln1720Glu)
c.1459C>G (p.Gln487Glu)
c.5545C>G (p.Gln1849Glu)
c.4909C>G (p.Gln1637Glu)
c.1699C>G (p.Gln567Glu)
 dbSNP
5g.177282537C>TCA295012NSD1c.5092C>T (p.Gln1698Ter)
c.607C>T (p.Gln203Ter)
n.5548C>T
c.5656C>T (p.Gln1886Ter)
n.5362C>T
n.6112C>T
n.4514C>T
c.5965C>T (p.Gln1989Ter)
c.5158C>T (p.Gln1720Ter)
c.1459C>T (p.Gln487Ter)
c.5545C>T (p.Gln1849Ter)
c.4909C>T (p.Gln1637Ter)
c.1699C>T (p.Gln567Ter)
 ClinVar dbSNP
5g.177282538A>CCA362315907NSD1c.5093A>C (p.Gln1698Pro)
c.608A>C (p.Gln203Pro)
n.5549A>C
c.5657A>C (p.Gln1886Pro)
n.5363A>C
n.6113A>C
n.4515A>C
c.5966A>C (p.Gln1989Pro)
c.5159A>C (p.Gln1720Pro)
c.1460A>C (p.Gln487Pro)
c.5546A>C (p.Gln1849Pro)
c.4910A>C (p.Gln1637Pro)
c.1700A>C (p.Gln567Pro)
5g.177282538A>GCA362315908NSD1c.5093A>G (p.Gln1698Arg)
c.608A>G (p.Gln203Arg)
n.5549A>G
c.5657A>G (p.Gln1886Arg)
n.5363A>G
n.6113A>G
n.4515A>G
c.5966A>G (p.Gln1989Arg)
c.5159A>G (p.Gln1720Arg)
c.1460A>G (p.Gln487Arg)
c.5546A>G (p.Gln1849Arg)
c.4910A>G (p.Gln1637Arg)
c.1700A>G (p.Gln567Arg)
5g.177282538A>TCA362315909NSD1c.5093A>T (p.Gln1698Leu)
c.608A>T (p.Gln203Leu)
n.5549A>T
c.5657A>T (p.Gln1886Leu)
n.5363A>T
n.6113A>T
n.4515A>T
c.5966A>T (p.Gln1989Leu)
c.5159A>T (p.Gln1720Leu)
c.1460A>T (p.Gln487Leu)
c.5546A>T (p.Gln1849Leu)
c.4910A>T (p.Gln1637Leu)
c.1700A>T (p.Gln567Leu)
 dbSNP
5g.177282539A=CA1603552094NSD1c.5094A= (p.Gln1698=)
c.609A= (p.Gln203=)
n.5550A=
c.5658A= (p.Gln1886=)
n.5364A=
n.6114A=
n.4516A=
c.5967A= (p.Gln1989=)
c.5160A= (p.Gln1720=)
c.1461A= (p.Gln487=)
c.5547A= (p.Gln1849=)
c.4911A= (p.Gln1637=)
c.1701A= (p.Gln567=)
5g.177282539A>CCA362315910NSD1c.5094A>C (p.Gln1698His)
c.609A>C (p.Gln203His)
n.5550A>C
c.5658A>C (p.Gln1886His)
n.5364A>C
n.6114A>C
n.4516A>C
c.5967A>C (p.Gln1989His)
c.5160A>C (p.Gln1720His)
c.1461A>C (p.Gln487His)
c.5547A>C (p.Gln1849His)
c.4911A>C (p.Gln1637His)
c.1701A>C (p.Gln567His)
5g.177282539A>GCA3577921NSD1c.5094A>G (p.Gln1698=)
c.609A>G (p.Gln203=)
n.5550A>G
c.5658A>G (p.Gln1886=)
n.5364A>G
n.6114A>G
n.4516A>G
c.5967A>G (p.Gln1989=)
c.5160A>G (p.Gln1720=)
c.1461A>G (p.Gln487=)
c.5547A>G (p.Gln1849=)
c.4911A>G (p.Gln1637=)
c.1701A>G (p.Gln567=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.177282539A>TCA362315911NSD1c.5094A>T (p.Gln1698His)
c.609A>T (p.Gln203His)
n.5550A>T
c.5658A>T (p.Gln1886His)
n.5364A>T
n.6114A>T
n.4516A>T
c.5967A>T (p.Gln1989His)
c.5160A>T (p.Gln1720His)
c.1461A>T (p.Gln487His)
c.5547A>T (p.Gln1849His)
c.4911A>T (p.Gln1637His)
c.1701A>T (p.Gln567His)
5g.177282540G>ACA362315912NSD1c.5095G>A (p.Glu1699Lys)
c.610G>A (p.Glu204Lys)
n.5551G>A
c.5659G>A (p.Glu1887Lys)
n.5365G>A
n.6115G>A
n.4517G>A
c.5968G>A (p.Glu1990Lys)
c.5161G>A (p.Glu1721Lys)
c.1462G>A (p.Glu488Lys)
c.5548G>A (p.Glu1850Lys)
c.4912G>A (p.Glu1638Lys)
c.1702G>A (p.Glu568Lys)
 dbSNP
5g.177282540G>CCA362315913NSD1c.5095G>C (p.Glu1699Gln)
c.610G>C (p.Glu204Gln)
n.5551G>C
c.5659G>C (p.Glu1887Gln)
n.5365G>C
n.6115G>C
n.4517G>C
c.5968G>C (p.Glu1990Gln)
c.5161G>C (p.Glu1721Gln)
c.1462G>C (p.Glu488Gln)
c.5548G>C (p.Glu1850Gln)
c.4912G>C (p.Glu1638Gln)
c.1702G>C (p.Glu568Gln)
 dbSNP COSMIC COSMIC
5g.177282540G>TCA362315914NSD1c.5095G>T (p.Glu1699Ter)
c.610G>T (p.Glu204Ter)
n.5551G>T
c.5659G>T (p.Glu1887Ter)
n.5365G>T
n.6115G>T
n.4517G>T
c.5968G>T (p.Glu1990Ter)
c.5161G>T (p.Glu1721Ter)
c.1462G>T (p.Glu488Ter)
c.5548G>T (p.Glu1850Ter)
c.4912G>T (p.Glu1638Ter)
c.1702G>T (p.Glu568Ter)
5g.177282541A>CCA362315917NSD1c.5096A>C (p.Glu1699Ala)
c.611A>C (p.Glu204Ala)
n.5552A>C
c.5660A>C (p.Glu1887Ala)
n.5366A>C
n.6116A>C
n.4518A>C
c.5969A>C (p.Glu1990Ala)
c.5162A>C (p.Glu1721Ala)
c.1463A>C (p.Glu488Ala)
c.5549A>C (p.Glu1850Ala)
c.4913A>C (p.Glu1638Ala)
c.1703A>C (p.Glu568Ala)
5g.177282541A>GCA362315916NSD1c.5096A>G (p.Glu1699Gly)
c.611A>G (p.Glu204Gly)
n.5552A>G
c.5660A>G (p.Glu1887Gly)
n.5366A>G
n.6116A>G
n.4518A>G
c.5969A>G (p.Glu1990Gly)
c.5162A>G (p.Glu1721Gly)
c.1463A>G (p.Glu488Gly)
c.5549A>G (p.Glu1850Gly)
c.4913A>G (p.Glu1638Gly)
c.1703A>G (p.Glu568Gly)
 dbSNP
5g.177282541A>TCA362315915NSD1c.5096A>T (p.Glu1699Val)
c.611A>T (p.Glu204Val)
n.5552A>T
c.5660A>T (p.Glu1887Val)
n.5366A>T
n.6116A>T
n.4518A>T
c.5969A>T (p.Glu1990Val)
c.5162A>T (p.Glu1721Val)
c.1463A>T (p.Glu488Val)
c.5549A>T (p.Glu1850Val)
c.4913A>T (p.Glu1638Val)
c.1703A>T (p.Glu568Val)
5g.177282542A>CCA362315918NSD1c.5097A>C (p.Glu1699Asp)
c.612A>C (p.Glu204Asp)
n.5553A>C
c.5661A>C (p.Glu1887Asp)
n.5367A>C
n.6117A>C
n.4519A>C
c.5970A>C (p.Glu1990Asp)
c.5163A>C (p.Glu1721Asp)
c.1464A>C (p.Glu488Asp)
c.5550A>C (p.Glu1850Asp)
c.4914A>C (p.Glu1638Asp)
c.1704A>C (p.Glu568Asp)
5g.177282542A>GCA447737613NSD1c.5097A>G (p.Glu1699=)
c.612A>G (p.Glu204=)
n.5553A>G
c.5661A>G (p.Glu1887=)
n.5367A>G
n.6117A>G
n.4519A>G
c.5970A>G (p.Glu1990=)
c.5163A>G (p.Glu1721=)
c.1464A>G (p.Glu488=)
c.5550A>G (p.Glu1850=)
c.4914A>G (p.Glu1638=)
c.1704A>G (p.Glu568=)
5g.177282542A>TCA362315919NSD1c.5097A>T (p.Glu1699Asp)
c.612A>T (p.Glu204Asp)
n.5553A>T
c.5661A>T (p.Glu1887Asp)
n.5367A>T
n.6117A>T
n.4519A>T
c.5970A>T (p.Glu1990Asp)
c.5163A>T (p.Glu1721Asp)
c.1464A>T (p.Glu488Asp)
c.5550A>T (p.Glu1850Asp)
c.4914A>T (p.Glu1638Asp)
c.1704A>T (p.Glu568Asp)
5g.177282543C>ACA362315920NSD1c.5098C>A (p.His1700Asn)
c.613C>A (p.His205Asn)
n.5554C>A
c.5662C>A (p.His1888Asn)
n.5368C>A
n.6118C>A
n.4520C>A
c.5971C>A (p.His1991Asn)
c.5164C>A (p.His1722Asn)
c.1465C>A (p.His489Asn)
c.5551C>A (p.His1851Asn)
c.4915C>A (p.His1639Asn)
c.1705C>A (p.His569Asn)
5g.177282543C>GCA362315921NSD1c.5098C>G (p.His1700Asp)
c.613C>G (p.His205Asp)
n.5554C>G
c.5662C>G (p.His1888Asp)
n.5368C>G
n.6118C>G
n.4520C>G
c.5971C>G (p.His1991Asp)
c.5164C>G (p.His1722Asp)
c.1465C>G (p.His489Asp)
c.5551C>G (p.His1851Asp)
c.4915C>G (p.His1639Asp)
c.1705C>G (p.His569Asp)
 dbSNP
5g.177282543C>TCA362315922NSD1c.5098C>T (p.His1700Tyr)
c.613C>T (p.His205Tyr)
n.5554C>T
c.5662C>T (p.His1888Tyr)
n.5368C>T
n.6118C>T
n.4520C>T
c.5971C>T (p.His1991Tyr)
c.5164C>T (p.His1722Tyr)
c.1465C>T (p.His489Tyr)
c.5551C>T (p.His1851Tyr)
c.4915C>T (p.His1639Tyr)
c.1705C>T (p.His569Tyr)
 gnomAD v4
5g.177282544A=CA1603552098NSD1c.5099A= (p.His1700=)
c.614A= (p.His205=)
n.5555A=
c.5663A= (p.His1888=)
n.5369A=
n.6119A=
n.4521A=
c.5972A= (p.His1991=)
c.5165A= (p.His1722=)
c.1466A= (p.His489=)
c.5552A= (p.His1851=)
c.4916A= (p.His1639=)
c.1706A= (p.His569=)
5g.177282544A>CCA362315923NSD1c.5099A>C (p.His1700Pro)
c.614A>C (p.His205Pro)
n.5555A>C
c.5663A>C (p.His1888Pro)
n.5369A>C
n.6119A>C
n.4521A>C
c.5972A>C (p.His1991Pro)
c.5165A>C (p.His1722Pro)
c.1466A>C (p.His489Pro)
c.5552A>C (p.His1851Pro)
c.4916A>C (p.His1639Pro)
c.1706A>C (p.His569Pro)
5g.177282544A>GCA362315924NSD1c.5099A>G (p.His1700Arg)
c.614A>G (p.His205Arg)
n.5555A>G
c.5663A>G (p.His1888Arg)
n.5369A>G
n.6119A>G
n.4521A>G
c.5972A>G (p.His1991Arg)
c.5165A>G (p.His1722Arg)
c.1466A>G (p.His489Arg)
c.5552A>G (p.His1851Arg)
c.4916A>G (p.His1639Arg)
c.1706A>G (p.His569Arg)
 dbSNP gnomAD v2 gnomAD v4
5g.177282544A>TCA362315925NSD1c.5099A>T (p.His1700Leu)
c.614A>T (p.His205Leu)
n.5555A>T
c.5663A>T (p.His1888Leu)
n.5369A>T
n.6119A>T
n.4521A>T
c.5972A>T (p.His1991Leu)
c.5165A>T (p.His1722Leu)
c.1466A>T (p.His489Leu)
c.5552A>T (p.His1851Leu)
c.4916A>T (p.His1639Leu)
c.1706A>T (p.His569Leu)
5g.177282544_177282545dupCA2582341660NSD1c.5099_5100dup (p.Asp1701MetfsTer11)
c.614_615dup (p.Asp206MetfsTer11)
n.5555_5556dup
c.5663_5664dup (p.Asp1889MetfsTer11)
n.5369_5370dup
n.6119_6120dup
n.4521_4522dup
c.5972_5973dup (p.Asp1992MetfsTer11)
c.5165_5166dup (p.Asp1723MetfsTer11)
c.1466_1467dup (p.Asp490MetfsTer11)
c.5552_5553dup (p.Asp1852MetfsTer11)
c.4916_4917dup (p.Asp1640MetfsTer11)
c.1706_1707dup (p.Asp570MetfsTer11)
 ClinVar
5g.177282545T>ACA362315926NSD1c.5100T>A (p.His1700Gln)
c.615T>A (p.His205Gln)
n.5556T>A
c.5664T>A (p.His1888Gln)
n.5370T>A
n.6120T>A
n.4522T>A
c.5973T>A (p.His1991Gln)
c.5166T>A (p.His1722Gln)
c.1467T>A (p.His489Gln)
c.5553T>A (p.His1851Gln)
c.4917T>A (p.His1639Gln)
c.1707T>A (p.His569Gln)
 dbSNP
5g.177282545T>CCA447737642NSD1c.5100T>C (p.His1700=)
c.615T>C (p.His205=)
n.5556T>C
c.5664T>C (p.His1888=)
n.5370T>C
n.6120T>C
n.4522T>C
c.5973T>C (p.His1991=)
c.5166T>C (p.His1722=)
c.1467T>C (p.His489=)
c.5553T>C (p.His1851=)
c.4917T>C (p.His1639=)
c.1707T>C (p.His569=)
5g.177282545T>GCA362315927NSD1c.5100T>G (p.His1700Gln)
c.615T>G (p.His205Gln)
n.5556T>G
c.5664T>G (p.His1888Gln)
n.5370T>G
n.6120T>G
n.4522T>G
c.5973T>G (p.His1991Gln)
c.5166T>G (p.His1722Gln)
c.1467T>G (p.His489Gln)
c.5553T>G (p.His1851Gln)
c.4917T>G (p.His1639Gln)
c.1707T>G (p.His569Gln)
5g.177282546G>ACA362315928NSD1c.5101G>A (p.Asp1701Asn)
c.616G>A (p.Asp206Asn)
n.5557G>A
c.5665G>A (p.Asp1889Asn)
n.5371G>A
n.6121G>A
n.4523G>A
c.5974G>A (p.Asp1992Asn)
c.5167G>A (p.Asp1723Asn)
c.1468G>A (p.Asp490Asn)
c.5554G>A (p.Asp1852Asn)
c.4918G>A (p.Asp1640Asn)
c.1708G>A (p.Asp570Asn)
5g.177282546G>CCA362315929NSD1c.5101G>C (p.Asp1701His)
c.616G>C (p.Asp206His)
n.5557G>C
c.5665G>C (p.Asp1889His)
n.5371G>C
n.6121G>C
n.4523G>C
c.5974G>C (p.Asp1992His)
c.5167G>C (p.Asp1723His)
c.1468G>C (p.Asp490His)
c.5554G>C (p.Asp1852His)
c.4918G>C (p.Asp1640His)
c.1708G>C (p.Asp570His)
5g.177282546G>TCA362315930NSD1c.5101G>T (p.Asp1701Tyr)
c.616G>T (p.Asp206Tyr)
n.5557G>T
c.5665G>T (p.Asp1889Tyr)
n.5371G>T
n.6121G>T
n.4523G>T
c.5974G>T (p.Asp1992Tyr)
c.5167G>T (p.Asp1723Tyr)
c.1468G>T (p.Asp490Tyr)
c.5554G>T (p.Asp1852Tyr)
c.4918G>T (p.Asp1640Tyr)
c.1708G>T (p.Asp570Tyr)
5g.177282547A=CA1603552100NSD1c.5102A= (p.Asp1701=)
c.617A= (p.Asp206=)
n.5558A=
c.5666A= (p.Asp1889=)
n.5372A=
n.6122A=
n.4524A=
c.5975A= (p.Asp1992=)
c.5168A= (p.Asp1723=)
c.1469A= (p.Asp490=)
c.5555A= (p.Asp1852=)
c.4919A= (p.Asp1640=)
c.1709A= (p.Asp570=)
5g.177282547A>CCA362315933NSD1c.5102A>C (p.Asp1701Ala)
c.617A>C (p.Asp206Ala)
n.5558A>C
c.5666A>C (p.Asp1889Ala)
n.5372A>C
n.6122A>C
n.4524A>C
c.5975A>C (p.Asp1992Ala)
c.5168A>C (p.Asp1723Ala)
c.1469A>C (p.Asp490Ala)
c.5555A>C (p.Asp1852Ala)
c.4919A>C (p.Asp1640Ala)
c.1709A>C (p.Asp570Ala)
5g.177282547A>GCA362315932NSD1c.5102A>G (p.Asp1701Gly)
c.617A>G (p.Asp206Gly)
n.5558A>G
c.5666A>G (p.Asp1889Gly)
n.5372A>G
n.6122A>G
n.4524A>G
c.5975A>G (p.Asp1992Gly)
c.5168A>G (p.Asp1723Gly)
c.1469A>G (p.Asp490Gly)
c.5555A>G (p.Asp1852Gly)
c.4919A>G (p.Asp1640Gly)
c.1709A>G (p.Asp570Gly)
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.177282547A>TCA362315931NSD1c.5102A>T (p.Asp1701Val)
c.617A>T (p.Asp206Val)
n.5558A>T
c.5666A>T (p.Asp1889Val)
n.5372A>T
n.6122A>T
n.4524A>T
c.5975A>T (p.Asp1992Val)
c.5168A>T (p.Asp1723Val)
c.1469A>T (p.Asp490Val)
c.5555A>T (p.Asp1852Val)
c.4919A>T (p.Asp1640Val)
c.1709A>T (p.Asp570Val)
 dbSNP
5g.177282548T>ACA362315934NSD1c.5103T>A (p.Asp1701Glu)
c.618T>A (p.Asp206Glu)
n.5559T>A
c.5667T>A (p.Asp1889Glu)
n.5373T>A
n.6123T>A
n.4525T>A
c.5976T>A (p.Asp1992Glu)
c.5169T>A (p.Asp1723Glu)
c.1470T>A (p.Asp490Glu)
c.5556T>A (p.Asp1852Glu)
c.4920T>A (p.Asp1640Glu)
c.1710T>A (p.Asp570Glu)
 dbSNP
5g.177282548T>CCA447737656NSD1c.5103T>C (p.Asp1701=)
c.618T>C (p.Asp206=)
n.5559T>C
c.5667T>C (p.Asp1889=)
n.5373T>C
n.6123T>C
n.4525T>C
c.5976T>C (p.Asp1992=)
c.5169T>C (p.Asp1723=)
c.1470T>C (p.Asp490=)
c.5556T>C (p.Asp1852=)
c.4920T>C (p.Asp1640=)
c.1710T>C (p.Asp570=)
5g.177282548T>GCA362315935NSD1c.5103T>G (p.Asp1701Glu)
c.618T>G (p.Asp206Glu)
n.5559T>G
c.5667T>G (p.Asp1889Glu)
n.5373T>G
n.6123T>G
n.4525T>G
c.5976T>G (p.Asp1992Glu)
c.5169T>G (p.Asp1723Glu)
c.1470T>G (p.Asp490Glu)
c.5556T>G (p.Asp1852Glu)
c.4920T>G (p.Asp1640Glu)
c.1710T>G (p.Asp570Glu)
 dbSNP
5g.177282549A>CCA362315936NSD1c.5104A>C (p.Ile1702Leu)
c.619A>C (p.Ile207Leu)
n.5560A>C
c.5668A>C (p.Ile1890Leu)
n.5374A>C
n.6124A>C
n.4526A>C
c.5977A>C (p.Ile1993Leu)
c.5170A>C (p.Ile1724Leu)
c.1471A>C (p.Ile491Leu)
c.5557A>C (p.Ile1853Leu)
c.4921A>C (p.Ile1641Leu)
c.1711A>C (p.Ile571Leu)
5g.177282549A>GCA362315937NSD1c.5104A>G (p.Ile1702Val)
c.619A>G (p.Ile207Val)
n.5560A>G
c.5668A>G (p.Ile1890Val)
n.5374A>G
n.6124A>G
n.4526A>G
c.5977A>G (p.Ile1993Val)
c.5170A>G (p.Ile1724Val)
c.1471A>G (p.Ile491Val)
c.5557A>G (p.Ile1853Val)
c.4921A>G (p.Ile1641Val)
c.1711A>G (p.Ile571Val)
 gnomAD v4
5g.177282549A>TCA362315938NSD1c.5104A>T (p.Ile1702Phe)
c.619A>T (p.Ile207Phe)
n.5560A>T
c.5668A>T (p.Ile1890Phe)
n.5374A>T
n.6124A>T
n.4526A>T
c.5977A>T (p.Ile1993Phe)
c.5170A>T (p.Ile1724Phe)
c.1471A>T (p.Ile491Phe)
c.5557A>T (p.Ile1853Phe)
c.4921A>T (p.Ile1641Phe)
c.1711A>T (p.Ile571Phe)
5g.177282550T>ACA362315939NSD1c.5105T>A (p.Ile1702Asn)
c.620T>A (p.Ile207Asn)
n.5561T>A
c.5669T>A (p.Ile1890Asn)
n.5375T>A
n.6125T>A
n.4527T>A
c.5978T>A (p.Ile1993Asn)
c.5171T>A (p.Ile1724Asn)
c.1472T>A (p.Ile491Asn)
c.5558T>A (p.Ile1853Asn)
c.4922T>A (p.Ile1641Asn)
c.1712T>A (p.Ile571Asn)
5g.177282550T>CCA362315940NSD1c.5105T>C (p.Ile1702Thr)
c.620T>C (p.Ile207Thr)
n.5561T>C
c.5669T>C (p.Ile1890Thr)
n.5375T>C
n.6125T>C
n.4527T>C
c.5978T>C (p.Ile1993Thr)
c.5171T>C (p.Ile1724Thr)
c.1472T>C (p.Ile491Thr)
c.5558T>C (p.Ile1853Thr)
c.4922T>C (p.Ile1641Thr)
c.1712T>C (p.Ile571Thr)
5g.177282550T>GCA362315941NSD1c.5105T>G (p.Ile1702Ser)
c.620T>G (p.Ile207Ser)
n.5561T>G
c.5669T>G (p.Ile1890Ser)
n.5375T>G
n.6125T>G
n.4527T>G
c.5978T>G (p.Ile1993Ser)
c.5171T>G (p.Ile1724Ser)
c.1472T>G (p.Ile491Ser)
c.5558T>G (p.Ile1853Ser)
c.4922T>G (p.Ile1641Ser)
c.1712T>G (p.Ile571Ser)
5g.177282551C>ACA3577922NSD1c.5106C>A (p.Ile1702=)
c.621C>A (p.Ile207=)
n.5562C>A
c.5670C>A (p.Ile1890=)
n.5376C>A
n.6126C>A
n.4528C>A
c.5979C>A (p.Ile1993=)
c.5172C>A (p.Ile1724=)
c.1473C>A (p.Ile491=)
c.5559C>A (p.Ile1853=)
c.4923C>A (p.Ile1641=)
c.1713C>A (p.Ile571=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.177282551C=CA1603552105NSD1c.5106C= (p.Ile1702=)
c.621C= (p.Ile207=)
n.5562C=
c.5670C= (p.Ile1890=)
n.5376C=
n.6126C=
n.4528C=
c.5979C= (p.Ile1993=)
c.5172C= (p.Ile1724=)
c.1473C= (p.Ile491=)
c.5559C= (p.Ile1853=)
c.4923C= (p.Ile1641=)
c.1713C= (p.Ile571=)
5g.177282551C>GCA362315942NSD1c.5106C>G (p.Ile1702Met)
c.621C>G (p.Ile207Met)
n.5562C>G
c.5670C>G (p.Ile1890Met)
n.5376C>G
n.6126C>G
n.4528C>G
c.5979C>G (p.Ile1993Met)
c.5172C>G (p.Ile1724Met)
c.1473C>G (p.Ile491Met)
c.5559C>G (p.Ile1853Met)
c.4923C>G (p.Ile1641Met)
c.1713C>G (p.Ile571Met)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.177282551C>TCA447737661NSD1c.5106C>T (p.Ile1702=)
c.621C>T (p.Ile207=)
n.5562C>T
c.5670C>T (p.Ile1890=)
n.5376C>T
n.6126C>T
n.4528C>T
c.5979C>T (p.Ile1993=)
c.5172C>T (p.Ile1724=)
c.1473C>T (p.Ile491=)
c.5559C>T (p.Ile1853=)
c.4923C>T (p.Ile1641=)
c.1713C>T (p.Ile571=)
 dbSNP
5g.177282552A>CCA362315943NSD1c.5107A>C (p.Thr1703Pro)
c.622A>C (p.Thr208Pro)
n.5563A>C
c.5671A>C (p.Thr1891Pro)
n.5377A>C
n.6127A>C
n.4529A>C
c.5980A>C (p.Thr1994Pro)
c.5173A>C (p.Thr1725Pro)
c.1474A>C (p.Thr492Pro)
c.5560A>C (p.Thr1854Pro)
c.4924A>C (p.Thr1642Pro)
c.1714A>C (p.Thr572Pro)
 gnomAD v4
5g.177282552A>GCA362315944NSD1c.5107A>G (p.Thr1703Ala)
c.622A>G (p.Thr208Ala)
n.5563A>G
c.5671A>G (p.Thr1891Ala)
n.5377A>G
n.6127A>G
n.4529A>G
c.5980A>G (p.Thr1994Ala)
c.5173A>G (p.Thr1725Ala)
c.1474A>G (p.Thr492Ala)
c.5560A>G (p.Thr1854Ala)
c.4924A>G (p.Thr1642Ala)
c.1714A>G (p.Thr572Ala)
5g.177282552A>TCA362315945NSD1c.5107A>T (p.Thr1703Ser)
c.622A>T (p.Thr208Ser)
n.5563A>T
c.5671A>T (p.Thr1891Ser)
n.5377A>T
n.6127A>T
n.4529A>T
c.5980A>T (p.Thr1994Ser)
c.5173A>T (p.Thr1725Ser)
c.1474A>T (p.Thr492Ser)
c.5560A>T (p.Thr1854Ser)
c.4924A>T (p.Thr1642Ser)
c.1714A>T (p.Thr572Ser)
 dbSNP
5g.177282553C>ACA362315946NSD1c.5108C>A (p.Thr1703Asn)
c.623C>A (p.Thr208Asn)
n.5564C>A
c.5672C>A (p.Thr1891Asn)
n.5378C>A
n.6128C>A
n.4530C>A
c.5981C>A (p.Thr1994Asn)
c.5174C>A (p.Thr1725Asn)
c.1475C>A (p.Thr492Asn)
c.5561C>A (p.Thr1854Asn)
c.4925C>A (p.Thr1642Asn)
c.1715C>A (p.Thr572Asn)
5g.177282553C=CA1603552107NSD1c.5108C= (p.Thr1703=)
c.623C= (p.Thr208=)
n.5564C=
c.5672C= (p.Thr1891=)
n.5378C=
n.6128C=
n.4530C=
c.5981C= (p.Thr1994=)
c.5174C= (p.Thr1725=)
c.1475C= (p.Thr492=)
c.5561C= (p.Thr1854=)
c.4925C= (p.Thr1642=)
c.1715C= (p.Thr572=)
5g.177282553C>GCA362315947NSD1c.5108C>G (p.Thr1703Ser)
c.623C>G (p.Thr208Ser)
n.5564C>G
c.5672C>G (p.Thr1891Ser)
n.5378C>G
n.6128C>G
n.4530C>G
c.5981C>G (p.Thr1994Ser)
c.5174C>G (p.Thr1725Ser)
c.1475C>G (p.Thr492Ser)
c.5561C>G (p.Thr1854Ser)
c.4925C>G (p.Thr1642Ser)
c.1715C>G (p.Thr572Ser)
 dbSNP gnomAD v2 gnomAD v4
5g.177282553C>TCA362315948NSD1c.5108C>T (p.Thr1703Ile)
c.623C>T (p.Thr208Ile)
n.5564C>T
c.5672C>T (p.Thr1891Ile)
n.5378C>T
n.6128C>T
n.4530C>T
c.5981C>T (p.Thr1994Ile)
c.5174C>T (p.Thr1725Ile)
c.1475C>T (p.Thr492Ile)
c.5561C>T (p.Thr1854Ile)
c.4925C>T (p.Thr1642Ile)
c.1715C>T (p.Thr572Ile)
 dbSNP
5g.177282554T>ACA447737675NSD1c.5109T>A (p.Thr1703=)
c.624T>A (p.Thr208=)
n.5565T>A
c.5673T>A (p.Thr1891=)
n.5379T>A
n.6129T>A
n.4531T>A
c.5982T>A (p.Thr1994=)
c.5175T>A (p.Thr1725=)
c.1476T>A (p.Thr492=)
c.5562T>A (p.Thr1854=)
c.4926T>A (p.Thr1642=)
c.1716T>A (p.Thr572=)
 dbSNP gnomAD v4
5g.177282554T>CCA447737679NSD1c.5109T>C (p.Thr1703=)
c.624T>C (p.Thr208=)
n.5565T>C
c.5673T>C (p.Thr1891=)
n.5379T>C
n.6129T>C
n.4531T>C
c.5982T>C (p.Thr1994=)
c.5175T>C (p.Thr1725=)
c.1476T>C (p.Thr492=)
c.5562T>C (p.Thr1854=)
c.4926T>C (p.Thr1642=)
c.1716T>C (p.Thr572=)
5g.177282554T>GCA447737676NSD1c.5109T>G (p.Thr1703=)
c.624T>G (p.Thr208=)
n.5565T>G
c.5673T>G (p.Thr1891=)
n.5379T>G
n.6129T>G
n.4531T>G
c.5982T>G (p.Thr1994=)
c.5175T>G (p.Thr1725=)
c.1476T>G (p.Thr492=)
c.5562T>G (p.Thr1854=)
c.4926T>G (p.Thr1642=)
c.1716T>G (p.Thr572=)
 COSMIC COSMIC
5g.177282555A>CCA362315949NSD1c.5110A>C (p.Asn1704His)
c.625A>C (p.Asn209His)
n.5566A>C
c.5674A>C (p.Asn1892His)
n.5380A>C
n.6130A>C
n.4532A>C
c.5983A>C (p.Asn1995His)
c.5176A>C (p.Asn1726His)
c.1477A>C (p.Asn493His)
c.5563A>C (p.Asn1855His)
c.4927A>C (p.Asn1643His)
c.1717A>C (p.Asn573His)
5g.177282555A>GCA362315951NSD1c.5110A>G (p.Asn1704Asp)
c.625A>G (p.Asn209Asp)
n.5566A>G
c.5674A>G (p.Asn1892Asp)
n.5380A>G
n.6130A>G
n.4532A>G
c.5983A>G (p.Asn1995Asp)
c.5176A>G (p.Asn1726Asp)
c.1477A>G (p.Asn493Asp)
c.5563A>G (p.Asn1855Asp)
c.4927A>G (p.Asn1643Asp)
c.1717A>G (p.Asn573Asp)
5g.177282555A>TCA362315950NSD1c.5110A>T (p.Asn1704Tyr)
c.625A>T (p.Asn209Tyr)
n.5566A>T
c.5674A>T (p.Asn1892Tyr)
n.5380A>T
n.6130A>T
n.4532A>T
c.5983A>T (p.Asn1995Tyr)
c.5176A>T (p.Asn1726Tyr)
c.1477A>T (p.Asn493Tyr)
c.5563A>T (p.Asn1855Tyr)
c.4927A>T (p.Asn1643Tyr)
c.1717A>T (p.Asn573Tyr)
 dbSNP
5g.177282556A>CCA362315952NSD1c.5111A>C (p.Asn1704Thr)
c.626A>C (p.Asn209Thr)
n.5567A>C
c.5675A>C (p.Asn1892Thr)
n.5381A>C
n.6131A>C
n.4533A>C
c.5984A>C (p.Asn1995Thr)
c.5177A>C (p.Asn1726Thr)
c.1478A>C (p.Asn493Thr)
c.5564A>C (p.Asn1855Thr)
c.4928A>C (p.Asn1643Thr)
c.1718A>C (p.Asn573Thr)
5g.177282556A>GCA362315953NSD1c.5111A>G (p.Asn1704Ser)
c.626A>G (p.Asn209Ser)
n.5567A>G
c.5675A>G (p.Asn1892Ser)
n.5381A>G
n.6131A>G
n.4533A>G
c.5984A>G (p.Asn1995Ser)
c.5177A>G (p.Asn1726Ser)
c.1478A>G (p.Asn493Ser)
c.5564A>G (p.Asn1855Ser)
c.4928A>G (p.Asn1643Ser)
c.1718A>G (p.Asn573Ser)
5g.177282556A>TCA362315954NSD1c.5111A>T (p.Asn1704Ile)
c.626A>T (p.Asn209Ile)
n.5567A>T
c.5675A>T (p.Asn1892Ile)
n.5381A>T
n.6131A>T
n.4533A>T
c.5984A>T (p.Asn1995Ile)
c.5177A>T (p.Asn1726Ile)
c.1478A>T (p.Asn493Ile)
c.5564A>T (p.Asn1855Ile)
c.4928A>T (p.Asn1643Ile)
c.1718A>T (p.Asn573Ile)
 dbSNP
5g.177282557T>ACA362315955NSD1c.5112T>A (p.Asn1704Lys)
c.627T>A (p.Asn209Lys)
n.5568T>A
c.5676T>A (p.Asn1892Lys)
n.5382T>A
n.6132T>A
n.4534T>A
c.5985T>A (p.Asn1995Lys)
c.5178T>A (p.Asn1726Lys)
c.1479T>A (p.Asn493Lys)
c.5565T>A (p.Asn1855Lys)
c.4929T>A (p.Asn1643Lys)
c.1719T>A (p.Asn573Lys)
5g.177282557T>CCA447737684NSD1c.5112T>C (p.Asn1704=)
c.627T>C (p.Asn209=)
n.5568T>C
c.5676T>C (p.Asn1892=)
n.5382T>C
n.6132T>C
n.4534T>C
c.5985T>C (p.Asn1995=)
c.5178T>C (p.Asn1726=)
c.1479T>C (p.Asn493=)
c.5565T>C (p.Asn1855=)
c.4929T>C (p.Asn1643=)
c.1719T>C (p.Asn573=)
5g.177282557T>GCA362315956NSD1c.5112T>G (p.Asn1704Lys)
c.627T>G (p.Asn209Lys)
n.5568T>G
c.5676T>G (p.Asn1892Lys)
n.5382T>G
n.6132T>G
n.4534T>G
c.5985T>G (p.Asn1995Lys)
c.5178T>G (p.Asn1726Lys)
c.1479T>G (p.Asn493Lys)
c.5565T>G (p.Asn1855Lys)
c.4929T>G (p.Asn1643Lys)
c.1719T>G (p.Asn573Lys)
5g.177282558T>ACA362315957NSD1c.5113T>A (p.Phe1705Ile)
c.628T>A (p.Phe210Ile)
n.5569T>A
c.5677T>A (p.Phe1893Ile)
n.5383T>A
n.6133T>A
n.4535T>A
c.5986T>A (p.Phe1996Ile)
c.5179T>A (p.Phe1727Ile)
c.1480T>A (p.Phe494Ile)
c.5566T>A (p.Phe1856Ile)
c.4930T>A (p.Phe1644Ile)
c.1720T>A (p.Phe574Ile)
 dbSNP
5g.177282558T>CCA362315958NSD1c.5113T>C (p.Phe1705Leu)
c.628T>C (p.Phe210Leu)
n.5569T>C
c.5677T>C (p.Phe1893Leu)
n.5383T>C
n.6133T>C
n.4535T>C
c.5986T>C (p.Phe1996Leu)
c.5179T>C (p.Phe1727Leu)
c.1480T>C (p.Phe494Leu)
c.5566T>C (p.Phe1856Leu)
c.4930T>C (p.Phe1644Leu)
c.1720T>C (p.Phe574Leu)
 dbSNP
5g.177282558T>GCA362315959NSD1c.5113T>G (p.Phe1705Val)
c.628T>G (p.Phe210Val)
n.5569T>G
c.5677T>G (p.Phe1893Val)
n.5383T>G
n.6133T>G
n.4535T>G
c.5986T>G (p.Phe1996Val)
c.5179T>G (p.Phe1727Val)
c.1480T>G (p.Phe494Val)
c.5566T>G (p.Phe1856Val)
c.4930T>G (p.Phe1644Val)
c.1720T>G (p.Phe574Val)
5g.177282559_177282568delCA2711007379NSD1c.5114_5123del (p.Phe1705SerfsTer3)
c.629_638del (p.Phe210SerfsTer3)
n.5570_5579del
c.5678_5687del (p.Phe1893SerfsTer3)
n.5384_5393del
n.6134_6143del
n.4536_4545del
c.5987_5996del (p.Phe1996SerfsTer3)
c.5180_5189del (p.Phe1727SerfsTer3)
c.1481_1490del (p.Phe494SerfsTer3)
c.5567_5576del (p.Phe1856SerfsTer3)
c.4931_4940del (p.Phe1644SerfsTer3)
c.1721_1730del (p.Phe574SerfsTer3)
 dbSNP
5g.177282559T>ACA362315960NSD1c.5114T>A (p.Phe1705Tyr)
c.629T>A (p.Phe210Tyr)
n.5570T>A
c.5678T>A (p.Phe1893Tyr)
n.5384T>A
n.6134T>A
n.4536T>A
c.5987T>A (p.Phe1996Tyr)
c.5180T>A (p.Phe1727Tyr)
c.1481T>A (p.Phe494Tyr)
c.5567T>A (p.Phe1856Tyr)
c.4931T>A (p.Phe1644Tyr)
c.1721T>A (p.Phe574Tyr)
5g.177282559T>CCA362315961NSD1c.5114T>C (p.Phe1705Ser)
c.629T>C (p.Phe210Ser)
n.5570T>C
c.5678T>C (p.Phe1893Ser)
n.5384T>C
n.6134T>C
n.4536T>C
c.5987T>C (p.Phe1996Ser)
c.5180T>C (p.Phe1727Ser)
c.1481T>C (p.Phe494Ser)
c.5567T>C (p.Phe1856Ser)
c.4931T>C (p.Phe1644Ser)
c.1721T>C (p.Phe574Ser)
5g.177282559T>GCA362315962NSD1c.5114T>G (p.Phe1705Cys)
c.629T>G (p.Phe210Cys)
n.5570T>G
c.5678T>G (p.Phe1893Cys)
n.5384T>G
n.6134T>G
n.4536T>G
c.5987T>G (p.Phe1996Cys)
c.5180T>G (p.Phe1727Cys)
c.1481T>G (p.Phe494Cys)
c.5567T>G (p.Phe1856Cys)
c.4931T>G (p.Phe1644Cys)
c.1721T>G (p.Phe574Cys)
5g.177282560C>ACA362315963NSD1c.5115C>A (p.Phe1705Leu)
c.630C>A (p.Phe210Leu)
n.5571C>A
c.5679C>A (p.Phe1893Leu)
n.5385C>A
n.6135C>A
n.4537C>A
c.5988C>A (p.Phe1996Leu)
c.5181C>A (p.Phe1727Leu)
c.1482C>A (p.Phe494Leu)
c.5568C>A (p.Phe1856Leu)
c.4932C>A (p.Phe1644Leu)
c.1722C>A (p.Phe574Leu)
5g.177282560C>GCA362315964NSD1c.5115C>G (p.Phe1705Leu)
c.630C>G (p.Phe210Leu)
n.5571C>G
c.5679C>G (p.Phe1893Leu)
n.5385C>G
n.6135C>G
n.4537C>G
c.5988C>G (p.Phe1996Leu)
c.5181C>G (p.Phe1727Leu)
c.1482C>G (p.Phe494Leu)
c.5568C>G (p.Phe1856Leu)
c.4932C>G (p.Phe1644Leu)
c.1722C>G (p.Phe574Leu)
 dbSNP
5g.177282560C>TCA447737695NSD1c.5115C>T (p.Phe1705=)
c.630C>T (p.Phe210=)
n.5571C>T
c.5679C>T (p.Phe1893=)
n.5385C>T
n.6135C>T
n.4537C>T
c.5988C>T (p.Phe1996=)
c.5181C>T (p.Phe1727=)
c.1482C>T (p.Phe494=)
c.5568C>T (p.Phe1856=)
c.4932C>T (p.Phe1644=)
c.1722C>T (p.Phe574=)
5g.177282561T>ACA362315965NSD1c.5116T>A (p.Tyr1706Asn)
c.631T>A (p.Tyr211Asn)
n.5572T>A
c.5680T>A (p.Tyr1894Asn)
n.5386T>A
n.6136T>A
n.4538T>A
c.5989T>A (p.Tyr1997Asn)
c.5182T>A (p.Tyr1728Asn)
c.1483T>A (p.Tyr495Asn)
c.5569T>A (p.Tyr1857Asn)
c.4933T>A (p.Tyr1645Asn)
c.1723T>A (p.Tyr575Asn)
5g.177282561T>CCA295015NSD1c.5116T>C (p.Tyr1706His)
c.631T>C (p.Tyr211His)
n.5572T>C
c.5680T>C (p.Tyr1894His)
n.5386T>C
n.6136T>C
n.4538T>C
c.5989T>C (p.Tyr1997His)
c.5182T>C (p.Tyr1728His)
c.1483T>C (p.Tyr495His)
c.5569T>C (p.Tyr1857His)
c.4933T>C (p.Tyr1645His)
c.1723T>C (p.Tyr575His)
 ClinVar dbSNP
5g.177282561T>GCA362315966NSD1c.5116T>G (p.Tyr1706Asp)
c.631T>G (p.Tyr211Asp)
n.5572T>G
c.5680T>G (p.Tyr1894Asp)
n.5386T>G
n.6136T>G
n.4538T>G
c.5989T>G (p.Tyr1997Asp)
c.5182T>G (p.Tyr1728Asp)
c.1483T>G (p.Tyr495Asp)
c.5569T>G (p.Tyr1857Asp)
c.4933T>G (p.Tyr1645Asp)
c.1723T>G (p.Tyr575Asp)
5g.177282561T=CA1603552115NSD1c.5116T= (p.Tyr1706=)
c.631T= (p.Tyr211=)
n.5572T=
c.5680T= (p.Tyr1894=)
n.5386T=
n.6136T=
n.4538T=
c.5989T= (p.Tyr1997=)
c.5182T= (p.Tyr1728=)
c.1483T= (p.Tyr495=)
c.5569T= (p.Tyr1857=)
c.4933T= (p.Tyr1645=)
c.1723T= (p.Tyr575=)
5g.177282562A=CA1603552119NSD1c.5117A= (p.Tyr1706=)
c.632A= (p.Tyr211=)
n.5573A=
c.5681A= (p.Tyr1894=)
n.5387A=
n.6137A=
n.4539A=
c.5990A= (p.Tyr1997=)
c.5183A= (p.Tyr1728=)
c.1484A= (p.Tyr495=)
c.5570A= (p.Tyr1857=)
c.4934A= (p.Tyr1645=)
c.1724A= (p.Tyr575=)
5g.177282562A>CCA362315967NSD1c.5117A>C (p.Tyr1706Ser)
c.632A>C (p.Tyr211Ser)
n.5573A>C
c.5681A>C (p.Tyr1894Ser)
n.5387A>C
n.6137A>C
n.4539A>C
c.5990A>C (p.Tyr1997Ser)
c.5183A>C (p.Tyr1728Ser)
c.1484A>C (p.Tyr495Ser)
c.5570A>C (p.Tyr1857Ser)
c.4934A>C (p.Tyr1645Ser)
c.1724A>C (p.Tyr575Ser)
5g.177282562A>GCA319717NSD1c.5117A>G (p.Tyr1706Cys)
c.632A>G (p.Tyr211Cys)
n.5573A>G
c.5681A>G (p.Tyr1894Cys)
n.5387A>G
n.6137A>G
n.4539A>G
c.5990A>G (p.Tyr1997Cys)
c.5183A>G (p.Tyr1728Cys)
c.1484A>G (p.Tyr495Cys)
c.5570A>G (p.Tyr1857Cys)
c.4934A>G (p.Tyr1645Cys)
c.1724A>G (p.Tyr575Cys)
 ClinVar dbSNP
5g.177282562A>TCA362315968NSD1c.5117A>T (p.Tyr1706Phe)
c.632A>T (p.Tyr211Phe)
n.5573A>T
c.5681A>T (p.Tyr1894Phe)
n.5387A>T
n.6137A>T
n.4539A>T
c.5990A>T (p.Tyr1997Phe)
c.5183A>T (p.Tyr1728Phe)
c.1484A>T (p.Tyr495Phe)
c.5570A>T (p.Tyr1857Phe)
c.4934A>T (p.Tyr1645Phe)
c.1724A>T (p.Tyr575Phe)
 dbSNP
5g.177282563T>ACA362315970NSD1c.5118T>A (p.Tyr1706Ter)
c.633T>A (p.Tyr211Ter)
n.5574T>A
c.5682T>A (p.Tyr1894Ter)
n.5388T>A
n.6138T>A
n.4540T>A
c.5991T>A (p.Tyr1997Ter)
c.5184T>A (p.Tyr1728Ter)
c.1485T>A (p.Tyr495Ter)
c.5571T>A (p.Tyr1857Ter)
c.4935T>A (p.Tyr1645Ter)
c.1725T>A (p.Tyr575Ter)
5g.177282563T>CCA447737708NSD1c.5118T>C (p.Tyr1706=)
c.633T>C (p.Tyr211=)
n.5574T>C
c.5682T>C (p.Tyr1894=)
n.5388T>C
n.6138T>C
n.4540T>C
c.5991T>C (p.Tyr1997=)
c.5184T>C (p.Tyr1728=)
c.1485T>C (p.Tyr495=)
c.5571T>C (p.Tyr1857=)
c.4935T>C (p.Tyr1645=)
c.1725T>C (p.Tyr575=)
 gnomAD v4
5g.177282563T>GCA362315969NSD1c.5118T>G (p.Tyr1706Ter)
c.633T>G (p.Tyr211Ter)
n.5574T>G
c.5682T>G (p.Tyr1894Ter)
n.5388T>G
n.6138T>G
n.4540T>G
c.5991T>G (p.Tyr1997Ter)
c.5184T>G (p.Tyr1728Ter)
c.1485T>G (p.Tyr495Ter)
c.5571T>G (p.Tyr1857Ter)
c.4935T>G (p.Tyr1645Ter)
c.1725T>G (p.Tyr575Ter)
5g.177282564A>CCA362315971NSD1c.5119A>C (p.Met1707Leu)
c.634A>C (p.Met212Leu)
n.5575A>C
c.5683A>C (p.Met1895Leu)
n.5389A>C
n.6139A>C
n.4541A>C
c.5992A>C (p.Met1998Leu)
c.5185A>C (p.Met1729Leu)
c.1486A>C (p.Met496Leu)
c.5572A>C (p.Met1858Leu)
c.4936A>C (p.Met1646Leu)
c.1726A>C (p.Met576Leu)
5g.177282564A>GCA362315972NSD1c.5119A>G (p.Met1707Val)
c.634A>G (p.Met212Val)
n.5575A>G
c.5683A>G (p.Met1895Val)
n.5389A>G
n.6139A>G
n.4541A>G
c.5992A>G (p.Met1998Val)
c.5185A>G (p.Met1729Val)
c.1486A>G (p.Met496Val)
c.5572A>G (p.Met1858Val)
c.4936A>G (p.Met1646Val)
c.1726A>G (p.Met576Val)
 ClinVar
5g.177282564A>TCA362315973NSD1c.5119A>T (p.Met1707Leu)
c.634A>T (p.Met212Leu)
n.5575A>T
c.5683A>T (p.Met1895Leu)
n.5389A>T
n.6139A>T
n.4541A>T
c.5992A>T (p.Met1998Leu)
c.5185A>T (p.Met1729Leu)
c.1486A>T (p.Met496Leu)
c.5572A>T (p.Met1858Leu)
c.4936A>T (p.Met1646Leu)
c.1726A>T (p.Met576Leu)
 dbSNP
5g.177282565T>ACA362315974NSD1c.5120T>A (p.Met1707Lys)
c.635T>A (p.Met212Lys)
n.5576T>A
c.5684T>A (p.Met1895Lys)
n.5390T>A
n.6140T>A
n.4542T>A
c.5993T>A (p.Met1998Lys)
c.5186T>A (p.Met1729Lys)
c.1487T>A (p.Met496Lys)
c.5573T>A (p.Met1858Lys)
c.4937T>A (p.Met1646Lys)
c.1727T>A (p.Met576Lys)
5g.177282565T>CCA362315975NSD1c.5120T>C (p.Met1707Thr)
c.635T>C (p.Met212Thr)
n.5576T>C
c.5684T>C (p.Met1895Thr)
n.5390T>C
n.6140T>C
n.4542T>C
c.5993T>C (p.Met1998Thr)
c.5186T>C (p.Met1729Thr)
c.1487T>C (p.Met496Thr)
c.5573T>C (p.Met1858Thr)
c.4937T>C (p.Met1646Thr)
c.1727T>C (p.Met576Thr)
5g.177282565T>GCA362315976NSD1c.5120T>G (p.Met1707Arg)
c.635T>G (p.Met212Arg)
n.5576T>G
c.5684T>G (p.Met1895Arg)
n.5390T>G
n.6140T>G
n.4542T>G
c.5993T>G (p.Met1998Arg)
c.5186T>G (p.Met1729Arg)
c.1487T>G (p.Met496Arg)
c.5573T>G (p.Met1858Arg)
c.4937T>G (p.Met1646Arg)
c.1727T>G (p.Met576Arg)
5g.177282565_177282566delinsTGCA1603552122NSD1c.5120_5121delinsTG (p.Met1707=)
c.635_636delinsTG (p.Met212=)
n.5576_5577delinsTG
c.5684_5685delinsTG (p.Met1895=)
n.5390_5391delinsTG
n.6140_6141delinsTG
n.4542_4543delinsTG
c.5993_5994delinsTG (p.Met1998=)
c.5186_5187delinsTG (p.Met1729=)
c.1487_1488delinsTG (p.Met496=)
c.5573_5574delinsTG (p.Met1858=)
c.4937_4938delinsTG (p.Met1646=)
c.1727_1728delinsTG (p.Met576=)
5g.177282566delCA10582416NSD1c.5121del (p.Met1707IlefsTer4)
c.636del (p.Met212IlefsTer4)
n.5577del
c.5685del (p.Met1895IlefsTer4)
n.5391del
n.6141del
n.4543del
c.5994del (p.Met1998IlefsTer4)
c.5187del (p.Met1729IlefsTer4)
c.1488del (p.Met496IlefsTer4)
c.5574del (p.Met1858IlefsTer4)
c.4938del (p.Met1646IlefsTer4)
c.1728del (p.Met576IlefsTer4)
 ClinVar dbSNP
5g.177282566G>ACA362315977NSD1c.5121G>A (p.Met1707Ile)
c.636G>A (p.Met212Ile)
n.5577G>A
c.5685G>A (p.Met1895Ile)
n.5391G>A
n.6141G>A
n.4543G>A
c.5994G>A (p.Met1998Ile)
c.5187G>A (p.Met1729Ile)
c.1488G>A (p.Met496Ile)
c.5574G>A (p.Met1858Ile)
c.4938G>A (p.Met1646Ile)
c.1728G>A (p.Met576Ile)
 dbSNP gnomAD v4
5g.177282566G>CCA362315979NSD1c.5121G>C (p.Met1707Ile)
c.636G>C (p.Met212Ile)
n.5577G>C
c.5685G>C (p.Met1895Ile)
n.5391G>C
n.6141G>C
n.4543G>C
c.5994G>C (p.Met1998Ile)
c.5187G>C (p.Met1729Ile)
c.1488G>C (p.Met496Ile)
c.5574G>C (p.Met1858Ile)
c.4938G>C (p.Met1646Ile)
c.1728G>C (p.Met576Ile)
 dbSNP
5g.177282566G>TCA362315978NSD1c.5121G>T (p.Met1707Ile)
c.636G>T (p.Met212Ile)
n.5577G>T
c.5685G>T (p.Met1895Ile)
n.5391G>T
n.6141G>T
n.4543G>T
c.5994G>T (p.Met1998Ile)
c.5187G>T (p.Met1729Ile)
c.1488G>T (p.Met496Ile)
c.5574G>T (p.Met1858Ile)
c.4938G>T (p.Met1646Ile)
c.1728G>T (p.Met576Ile)
 COSMIC COSMIC
5g.177282567C>ACA362315980NSD1c.5122C>A (p.Leu1708Ile)
c.637C>A (p.Leu213Ile)
n.5578C>A
c.5686C>A (p.Leu1896Ile)
n.5392C>A
n.6142C>A
n.4544C>A
c.5995C>A (p.Leu1999Ile)
c.5188C>A (p.Leu1730Ile)
c.1489C>A (p.Leu497Ile)
c.5575C>A (p.Leu1859Ile)
c.4939C>A (p.Leu1647Ile)
c.1729C>A (p.Leu577Ile)
 gnomAD v4
5g.177282567C>GCA362315981NSD1c.5122C>G (p.Leu1708Val)
c.637C>G (p.Leu213Val)
n.5578C>G
c.5686C>G (p.Leu1896Val)
n.5392C>G
n.6142C>G
n.4544C>G
c.5995C>G (p.Leu1999Val)
c.5188C>G (p.Leu1730Val)
c.1489C>G (p.Leu497Val)
c.5575C>G (p.Leu1859Val)
c.4939C>G (p.Leu1647Val)
c.1729C>G (p.Leu577Val)
 dbSNP
5g.177282567C>TCA362315982NSD1c.5122C>T (p.Leu1708Phe)
c.637C>T (p.Leu213Phe)
n.5578C>T
c.5686C>T (p.Leu1896Phe)
n.5392C>T
n.6142C>T
n.4544C>T
c.5995C>T (p.Leu1999Phe)
c.5188C>T (p.Leu1730Phe)
c.1489C>T (p.Leu497Phe)
c.5575C>T (p.Leu1859Phe)
c.4939C>T (p.Leu1647Phe)
c.1729C>T (p.Leu577Phe)
 dbSNP
5g.177282568T>ACA362315983NSD1c.5123T>A (p.Leu1708His)
c.638T>A (p.Leu213His)
n.5579T>A
c.5687T>A (p.Leu1896His)
n.5393T>A
n.6143T>A
n.4545T>A
c.5996T>A (p.Leu1999His)
c.5189T>A (p.Leu1730His)
c.1490T>A (p.Leu497His)
c.5576T>A (p.Leu1859His)
c.4940T>A (p.Leu1647His)
c.1730T>A (p.Leu577His)
 dbSNP
5g.177282568T>CCA362315984NSD1c.5123T>C (p.Leu1708Pro)
c.638T>C (p.Leu213Pro)
n.5579T>C
c.5687T>C (p.Leu1896Pro)
n.5393T>C
n.6143T>C
n.4545T>C
c.5996T>C (p.Leu1999Pro)
c.5189T>C (p.Leu1730Pro)
c.1490T>C (p.Leu497Pro)
c.5576T>C (p.Leu1859Pro)
c.4940T>C (p.Leu1647Pro)
c.1730T>C (p.Leu577Pro)
 ClinVar dbSNP
5g.177282568T>GCA362315985NSD1c.5123T>G (p.Leu1708Arg)
c.638T>G (p.Leu213Arg)
n.5579T>G
c.5687T>G (p.Leu1896Arg)
n.5393T>G
n.6143T>G
n.4545T>G
c.5996T>G (p.Leu1999Arg)
c.5189T>G (p.Leu1730Arg)
c.1490T>G (p.Leu497Arg)
c.5576T>G (p.Leu1859Arg)
c.4940T>G (p.Leu1647Arg)
c.1730T>G (p.Leu577Arg)
5g.177282568T=CA1603552131NSD1c.5123T= (p.Leu1708=)
c.638T= (p.Leu213=)
n.5579T=
c.5687T= (p.Leu1896=)
n.5393T=
n.6143T=
n.4545T=
c.5996T= (p.Leu1999=)
c.5189T= (p.Leu1730=)
c.1490T= (p.Leu497=)
c.5576T= (p.Leu1859=)
c.4940T= (p.Leu1647=)
c.1730T= (p.Leu577=)
5g.177282568_177282569delinsGTCA645548640NSD1c.5123_5124delinsGT (p.Leu1708Arg)
c.638_639delinsGT (p.Leu213Arg)
n.5579_5580delinsGT
c.5687_5688delinsGT (p.Leu1896Arg)
n.5393_5394delinsGT
n.6143_6144delinsGT
n.4545_4546delinsGT
c.5996_5997delinsGT (p.Leu1999Arg)
c.5189_5190delinsGT (p.Leu1730Arg)
c.1490_1491delinsGT (p.Leu497Arg)
c.5576_5577delinsGT (p.Leu1859Arg)
c.4940_4941delinsGT (p.Leu1647Arg)
c.1730_1731delinsGT (p.Leu577Arg)
 COSMIC COSMIC
5g.177282569C>ACA447737723NSD1c.5124C>A (p.Leu1708=)
c.639C>A (p.Leu213=)
n.5580C>A
c.5688C>A (p.Leu1896=)
n.5394C>A
n.6144C>A
n.4546C>A
c.5997C>A (p.Leu1999=)
c.5190C>A (p.Leu1730=)
c.1491C>A (p.Leu497=)
c.5577C>A (p.Leu1859=)
c.4941C>A (p.Leu1647=)
c.1731C>A (p.Leu577=)
 dbSNP gnomAD v4
5g.177282569C=CA1603552137NSD1c.5124C= (p.Leu1708=)
c.639C= (p.Leu213=)
n.5580C=
c.5688C= (p.Leu1896=)
n.5394C=
n.6144C=
n.4546C=
c.5997C= (p.Leu1999=)
c.5190C= (p.Leu1730=)
c.1491C= (p.Leu497=)
c.5577C= (p.Leu1859=)
c.4941C= (p.Leu1647=)
c.1731C= (p.Leu577=)
5g.177282569C>GCA132849017NSD1c.5124C>G (p.Leu1708=)
c.639C>G (p.Leu213=)
n.5580C>G
c.5688C>G (p.Leu1896=)
n.5394C>G
n.6144C>G
n.4546C>G
c.5997C>G (p.Leu1999=)
c.5190C>G (p.Leu1730=)
c.1491C>G (p.Leu497=)
c.5577C>G (p.Leu1859=)
c.4941C>G (p.Leu1647=)
c.1731C>G (p.Leu577=)
 dbSNP gnomAD v3 gnomAD v4
5g.177282569C>TCA447737724NSD1c.5124C>T (p.Leu1708=)
c.639C>T (p.Leu213=)
n.5580C>T
c.5688C>T (p.Leu1896=)
n.5394C>T
n.6144C>T
n.4546C>T
c.5997C>T (p.Leu1999=)
c.5190C>T (p.Leu1730=)
c.1491C>T (p.Leu497=)
c.5577C>T (p.Leu1859=)
c.4941C>T (p.Leu1647=)
c.1731C>T (p.Leu577=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.177282569_177282570insTCA658832954NSD1c.5124_5125insT (p.Thr1709TyrfsTer9)
c.639_640insT (p.Thr214TyrfsTer9)
n.5580_5581insT
c.5688_5689insT (p.Thr1897TyrfsTer9)
n.5394_5395insT
n.6144_6145insT
n.4546_4547insT
c.5997_5998insT (p.Thr2000TyrfsTer9)
c.5190_5191insT (p.Thr1731TyrfsTer9)
c.1491_1492insT (p.Thr498TyrfsTer9)
c.5577_5578insT (p.Thr1860TyrfsTer9)
c.4941_4942insT (p.Thr1648TyrfsTer9)
c.1731_1732insT (p.Thr578TyrfsTer9)
 ClinVar dbSNP
5g.177282570A>CCA362315986NSD1c.5125A>C (p.Thr1709Pro)
c.640A>C (p.Thr214Pro)
n.5581A>C
c.5689A>C (p.Thr1897Pro)
n.5395A>C
n.6145A>C
n.4547A>C
c.5998A>C (p.Thr2000Pro)
c.5191A>C (p.Thr1731Pro)
c.1492A>C (p.Thr498Pro)
c.5578A>C (p.Thr1860Pro)
c.4942A>C (p.Thr1648Pro)
c.1732A>C (p.Thr578Pro)
 dbSNP
5g.177282570A>GCA362315987NSD1c.5125A>G (p.Thr1709Ala)
c.640A>G (p.Thr214Ala)
n.5581A>G
c.5689A>G (p.Thr1897Ala)
n.5395A>G
n.6145A>G
n.4547A>G
c.5998A>G (p.Thr2000Ala)
c.5191A>G (p.Thr1731Ala)
c.1492A>G (p.Thr498Ala)
c.5578A>G (p.Thr1860Ala)
c.4942A>G (p.Thr1648Ala)
c.1732A>G (p.Thr578Ala)
5g.177282570A>TCA362315988NSD1c.5125A>T (p.Thr1709Ser)
c.640A>T (p.Thr214Ser)
n.5581A>T
c.5689A>T (p.Thr1897Ser)
n.5395A>T
n.6145A>T
n.4547A>T
c.5998A>T (p.Thr2000Ser)
c.5191A>T (p.Thr1731Ser)
c.1492A>T (p.Thr498Ser)
c.5578A>T (p.Thr1860Ser)
c.4942A>T (p.Thr1648Ser)
c.1732A>T (p.Thr578Ser)
 dbSNP
5g.177282571C>ACA362315989NSD1c.5126C>A (p.Thr1709Asn)
c.641C>A (p.Thr214Asn)
n.5582C>A
c.5690C>A (p.Thr1897Asn)
n.5396C>A
n.6146C>A
n.4548C>A
c.5999C>A (p.Thr2000Asn)
c.5192C>A (p.Thr1731Asn)
c.1493C>A (p.Thr498Asn)
c.5579C>A (p.Thr1860Asn)
c.4943C>A (p.Thr1648Asn)
c.1733C>A (p.Thr578Asn)
 dbSNP
5g.177282571C>GCA362315991NSD1c.5126C>G (p.Thr1709Ser)
c.641C>G (p.Thr214Ser)
n.5582C>G
c.5690C>G (p.Thr1897Ser)
n.5396C>G
n.6146C>G
n.4548C>G
c.5999C>G (p.Thr2000Ser)
c.5192C>G (p.Thr1731Ser)
c.1493C>G (p.Thr498Ser)
c.5579C>G (p.Thr1860Ser)
c.4943C>G (p.Thr1648Ser)
c.1733C>G (p.Thr578Ser)
 dbSNP
5g.177282571C>TCA362315990NSD1c.5126C>T (p.Thr1709Ile)
c.641C>T (p.Thr214Ile)
n.5582C>T
c.5690C>T (p.Thr1897Ile)
n.5396C>T
n.6146C>T
n.4548C>T
c.5999C>T (p.Thr2000Ile)
c.5192C>T (p.Thr1731Ile)
c.1493C>T (p.Thr498Ile)
c.5579C>T (p.Thr1860Ile)
c.4943C>T (p.Thr1648Ile)
c.1733C>T (p.Thr578Ile)
 gnomAD v4
5g.177282573delCA2695205713NSD1c.5128del (p.Leu1710Ter)
c.643del (p.Leu215Ter)
n.5584del
c.5692del (p.Leu1898Ter)
n.5398del
n.6148del
n.4550del
c.6001del (p.Leu2001Ter)
c.5194del (p.Leu1732Ter)
c.1495del (p.Leu499Ter)
c.5581del (p.Leu1861Ter)
c.4945del (p.Leu1649Ter)
c.1735del (p.Leu579Ter)
5g.177282572C>ACA447737731NSD1c.5127C>A (p.Thr1709=)
c.642C>A (p.Thr214=)
n.5583C>A
c.5691C>A (p.Thr1897=)
n.5397C>A
n.6147C>A
n.4549C>A
c.6000C>A (p.Thr2000=)
c.5193C>A (p.Thr1731=)
c.1494C>A (p.Thr498=)
c.5580C>A (p.Thr1860=)
c.4944C>A (p.Thr1648=)
c.1734C>A (p.Thr578=)
 dbSNP gnomAD v4
5g.177282572C=CA1603552147NSD1c.5127C= (p.Thr1709=)
c.642C= (p.Thr214=)
n.5583C=
c.5691C= (p.Thr1897=)
n.5397C=
n.6147C=
n.4549C=
c.6000C= (p.Thr2000=)
c.5193C= (p.Thr1731=)
c.1494C= (p.Thr498=)
c.5580C= (p.Thr1860=)
c.4944C= (p.Thr1648=)
c.1734C= (p.Thr578=)
5g.177282572C>GCA447737734NSD1c.5127C>G (p.Thr1709=)
c.642C>G (p.Thr214=)
n.5583C>G
c.5691C>G (p.Thr1897=)
n.5397C>G
n.6147C>G
n.4549C>G
c.6000C>G (p.Thr2000=)
c.5193C>G (p.Thr1731=)
c.1494C>G (p.Thr498=)
c.5580C>G (p.Thr1860=)
c.4944C>G (p.Thr1648=)
c.1734C>G (p.Thr578=)
 dbSNP gnomAD v2 gnomAD v4
5g.177282572C>TCA447737736NSD1c.5127C>T (p.Thr1709=)
c.642C>T (p.Thr214=)
n.5583C>T
c.5691C>T (p.Thr1897=)
n.5397C>T
n.6147C>T
n.4549C>T
c.6000C>T (p.Thr2000=)
c.5193C>T (p.Thr1731=)
c.1494C>T (p.Thr498=)
c.5580C>T (p.Thr1860=)
c.4944C>T (p.Thr1648=)
c.1734C>T (p.Thr578=)
 dbSNP COSMIC COSMIC
5g.177282573C>ACA362315992NSD1c.5128C>A (p.Leu1710Ile)
c.643C>A (p.Leu215Ile)
n.5584C>A
c.5692C>A (p.Leu1898Ile)
n.5398C>A
n.6148C>A
n.4550C>A
c.6001C>A (p.Leu2001Ile)
c.5194C>A (p.Leu1732Ile)
c.1495C>A (p.Leu499Ile)
c.5581C>A (p.Leu1861Ile)
c.4945C>A (p.Leu1649Ile)
c.1735C>A (p.Leu579Ile)
 dbSNP gnomAD v4
5g.177282573C=CA1603552153NSD1c.5128C= (p.Leu1710=)
c.643C= (p.Leu215=)
n.5584C=
c.5692C= (p.Leu1898=)
n.5398C=
n.6148C=
n.4550C=
c.6001C= (p.Leu2001=)
c.5194C= (p.Leu1732=)
c.1495C= (p.Leu499=)
c.5581C= (p.Leu1861=)
c.4945C= (p.Leu1649=)
c.1735C= (p.Leu579=)
5g.177282573C>GCA362315993NSD1c.5128C>G (p.Leu1710Val)
c.643C>G (p.Leu215Val)
n.5584C>G
c.5692C>G (p.Leu1898Val)
n.5398C>G
n.6148C>G
n.4550C>G
c.6001C>G (p.Leu2001Val)
c.5194C>G (p.Leu1732Val)
c.1495C>G (p.Leu499Val)
c.5581C>G (p.Leu1861Val)
c.4945C>G (p.Leu1649Val)
c.1735C>G (p.Leu579Val)
 dbSNP
5g.177282573C>TCA295018NSD1c.5128C>T (p.Leu1710=)
c.643C>T (p.Leu215=)
n.5584C>T
c.5692C>T (p.Leu1898=)
n.5398C>T
n.6148C>T
n.4550C>T
c.6001C>T (p.Leu2001=)
c.5194C>T (p.Leu1732=)
c.1495C>T (p.Leu499=)
c.5581C>T (p.Leu1861=)
c.4945C>T (p.Leu1649=)
c.1735C>T (p.Leu579=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.177282574T>ACA362315994NSD1c.5129T>A (p.Leu1710Gln)
c.644T>A (p.Leu215Gln)
n.5585T>A
c.5693T>A (p.Leu1898Gln)
n.5399T>A
n.6149T>A
n.4551T>A
c.6002T>A (p.Leu2001Gln)
c.5195T>A (p.Leu1732Gln)
c.1496T>A (p.Leu499Gln)
c.5582T>A (p.Leu1861Gln)
c.4946T>A (p.Leu1649Gln)
c.1736T>A (p.Leu579Gln)
 dbSNP
5g.177282574T>CCA362315996NSD1c.5129T>C (p.Leu1710Pro)
c.644T>C (p.Leu215Pro)
n.5585T>C
c.5693T>C (p.Leu1898Pro)
n.5399T>C
n.6149T>C
n.4551T>C
c.6002T>C (p.Leu2001Pro)
c.5195T>C (p.Leu1732Pro)
c.1496T>C (p.Leu499Pro)
c.5582T>C (p.Leu1861Pro)
c.4946T>C (p.Leu1649Pro)
c.1736T>C (p.Leu579Pro)
5g.177282574T>GCA362315995NSD1c.5129T>G (p.Leu1710Arg)
c.644T>G (p.Leu215Arg)
n.5585T>G
c.5693T>G (p.Leu1898Arg)
n.5399T>G
n.6149T>G
n.4551T>G
c.6002T>G (p.Leu2001Arg)
c.5195T>G (p.Leu1732Arg)
c.1496T>G (p.Leu499Arg)
c.5582T>G (p.Leu1861Arg)
c.4946T>G (p.Leu1649Arg)
c.1736T>G (p.Leu579Arg)
5g.177282575A=CA1603552156NSD1c.5130A= (p.Leu1710=)
c.645A= (p.Leu215=)
n.5586A=
c.5694A= (p.Leu1898=)
n.5400A=
n.6150A=
n.4552A=
c.6003A= (p.Leu2001=)
c.5196A= (p.Leu1732=)
c.1497A= (p.Leu499=)
c.5583A= (p.Leu1861=)
c.4947A= (p.Leu1649=)
c.1737A= (p.Leu579=)
5g.177282575A>CCA447737745NSD1c.5130A>C (p.Leu1710=)
c.645A>C (p.Leu215=)
n.5586A>C
c.5694A>C (p.Leu1898=)
n.5400A>C
n.6150A>C
n.4552A>C
c.6003A>C (p.Leu2001=)
c.5196A>C (p.Leu1732=)
c.1497A>C (p.Leu499=)
c.5583A>C (p.Leu1861=)
c.4947A>C (p.Leu1649=)
c.1737A>C (p.Leu579=)
5g.177282575A>GCA447737749NSD1c.5130A>G (p.Leu1710=)
c.645A>G (p.Leu215=)
n.5586A>G
c.5694A>G (p.Leu1898=)
n.5400A>G
n.6150A>G
n.4552A>G
c.6003A>G (p.Leu2001=)
c.5196A>G (p.Leu1732=)
c.1497A>G (p.Leu499=)
c.5583A>G (p.Leu1861=)
c.4947A>G (p.Leu1649=)
c.1737A>G (p.Leu579=)
 dbSNP gnomAD v3 gnomAD v4
5g.177282575A>TCA447737747NSD1c.5130A>T (p.Leu1710=)
c.645A>T (p.Leu215=)
n.5586A>T
c.5694A>T (p.Leu1898=)
n.5400A>T
n.6150A>T
n.4552A>T
c.6003A>T (p.Leu2001=)
c.5196A>T (p.Leu1732=)
c.1497A>T (p.Leu499=)
c.5583A>T (p.Leu1861=)
c.4947A>T (p.Leu1649=)
c.1737A>T (p.Leu579=)
5g.177282576_177282579delCA2695205715NSD1c.5131_5134del (p.Asp1711LysfsTer17)
c.646_649del (p.Asp216LysfsTer17)
n.5587_5590del
c.5695_5698del (p.Asp1899LysfsTer17)
n.5401_5404del
n.6151_6154del
n.4553_4556del
c.6004_6007del (p.Asp2002LysfsTer17)
c.5197_5200del (p.Asp1733LysfsTer17)
c.1498_1501del (p.Asp500LysfsTer17)
c.5584_5587del (p.Asp1862LysfsTer17)
c.4948_4951del (p.Asp1650LysfsTer17)
c.1738_1741del (p.Asp580LysfsTer17)
5g.177282576G>ACA362315997NSD1c.5131G>A (p.Asp1711Asn)
c.646G>A (p.Asp216Asn)
n.5587G>A
c.5695G>A (p.Asp1899Asn)
n.5401G>A
n.6151G>A
n.4553G>A
c.6004G>A (p.Asp2002Asn)
c.5197G>A (p.Asp1733Asn)
c.1498G>A (p.Asp500Asn)
c.5584G>A (p.Asp1862Asn)
c.4948G>A (p.Asp1650Asn)
c.1738G>A (p.Asp580Asn)
 dbSNP
5g.177282576G>CCA362315999NSD1c.5131G>C (p.Asp1711His)
c.646G>C (p.Asp216His)
n.5587G>C
c.5695G>C (p.Asp1899His)
n.5401G>C
n.6151G>C
n.4553G>C
c.6004G>C (p.Asp2002His)
c.5197G>C (p.Asp1733His)
c.1498G>C (p.Asp500His)
c.5584G>C (p.Asp1862His)
c.4948G>C (p.Asp1650His)
c.1738G>C (p.Asp580His)
5g.177282576G>TCA362315998NSD1c.5131G>T (p.Asp1711Tyr)
c.646G>T (p.Asp216Tyr)
n.5587G>T
c.5695G>T (p.Asp1899Tyr)
n.5401G>T
n.6151G>T
n.4553G>T
c.6004G>T (p.Asp2002Tyr)
c.5197G>T (p.Asp1733Tyr)
c.1498G>T (p.Asp500Tyr)
c.5584G>T (p.Asp1862Tyr)
c.4948G>T (p.Asp1650Tyr)
c.1738G>T (p.Asp580Tyr)
5g.177282576_177282587delCA645548641NSD1c.5131_5136+6del
c.646_651+6del
n.5587_5592+6del
c.5695_5700+6del
n.5401_5406+6del
n.6151_6156+6del
n.4553_4558+6del
c.6004_6009+6del
c.5197_5202+6del
c.1498_1503+6del
c.5584_5589+6del
c.4948_4953+6del
c.1738_1743+6del
 COSMIC COSMIC

Number of alleles fetched