Chr Mutation (hg38) CAid Gene Transcript Linkouts
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
5g.177282577A>CCA362316000NSD1c.5132A>C (p.Asp1711Ala)
c.647A>C (p.Asp216Ala)
n.5588A>C
c.5696A>C (p.Asp1899Ala)
n.5402A>C
n.6152A>C
n.4554A>C
c.6005A>C (p.Asp2002Ala)
c.5198A>C (p.Asp1733Ala)
c.1499A>C (p.Asp500Ala)
c.5585A>C (p.Asp1862Ala)
c.4949A>C (p.Asp1650Ala)
c.1739A>C (p.Asp580Ala)
5g.177282577A>GCA362316001NSD1c.5132A>G (p.Asp1711Gly)
c.647A>G (p.Asp216Gly)
n.5588A>G
c.5696A>G (p.Asp1899Gly)
n.5402A>G
n.6152A>G
n.4554A>G
c.6005A>G (p.Asp2002Gly)
c.5198A>G (p.Asp1733Gly)
c.1499A>G (p.Asp500Gly)
c.5585A>G (p.Asp1862Gly)
c.4949A>G (p.Asp1650Gly)
c.1739A>G (p.Asp580Gly)
5g.177282577A>TCA362316002NSD1c.5132A>T (p.Asp1711Val)
c.647A>T (p.Asp216Val)
n.5588A>T
c.5696A>T (p.Asp1899Val)
n.5402A>T
n.6152A>T
n.4554A>T
c.6005A>T (p.Asp2002Val)
c.5198A>T (p.Asp1733Val)
c.1499A>T (p.Asp500Val)
c.5585A>T (p.Asp1862Val)
c.4949A>T (p.Asp1650Val)
c.1739A>T (p.Asp580Val)
5g.177282578C>ACA362316003NSD1c.5133C>A (p.Asp1711Glu)
c.648C>A (p.Asp216Glu)
n.5589C>A
c.5697C>A (p.Asp1899Glu)
n.5403C>A
n.6153C>A
n.4555C>A
c.6006C>A (p.Asp2002Glu)
c.5199C>A (p.Asp1733Glu)
c.1500C>A (p.Asp500Glu)
c.5586C>A (p.Asp1862Glu)
c.4950C>A (p.Asp1650Glu)
c.1740C>A (p.Asp580Glu)
 dbSNP gnomAD v4
5g.177282578C>GCA362316004NSD1c.5133C>G (p.Asp1711Glu)
c.648C>G (p.Asp216Glu)
n.5589C>G
c.5697C>G (p.Asp1899Glu)
n.5403C>G
n.6153C>G
n.4555C>G
c.6006C>G (p.Asp2002Glu)
c.5199C>G (p.Asp1733Glu)
c.1500C>G (p.Asp500Glu)
c.5586C>G (p.Asp1862Glu)
c.4950C>G (p.Asp1650Glu)
c.1740C>G (p.Asp580Glu)
 dbSNP
5g.177282578C>TCA447737759NSD1c.5133C>T (p.Asp1711=)
c.648C>T (p.Asp216=)
n.5589C>T
c.5697C>T (p.Asp1899=)
n.5403C>T
n.6153C>T
n.4555C>T
c.6006C>T (p.Asp2002=)
c.5199C>T (p.Asp1733=)
c.1500C>T (p.Asp500=)
c.5586C>T (p.Asp1862=)
c.4950C>T (p.Asp1650=)
c.1740C>T (p.Asp580=)
5g.177282579A>CCA362316005NSD1c.5134A>C (p.Lys1712Gln)
c.649A>C (p.Lys217Gln)
n.5590A>C
c.5698A>C (p.Lys1900Gln)
n.5404A>C
n.6154A>C
n.4556A>C
c.6007A>C (p.Lys2003Gln)
c.5200A>C (p.Lys1734Gln)
c.1501A>C (p.Lys501Gln)
c.5587A>C (p.Lys1863Gln)
c.4951A>C (p.Lys1651Gln)
c.1741A>C (p.Lys581Gln)
 dbSNP
5g.177282579A>GCA362316006NSD1c.5134A>G (p.Lys1712Glu)
c.649A>G (p.Lys217Glu)
n.5590A>G
c.5698A>G (p.Lys1900Glu)
n.5404A>G
n.6154A>G
n.4556A>G
c.6007A>G (p.Lys2003Glu)
c.5200A>G (p.Lys1734Glu)
c.1501A>G (p.Lys501Glu)
c.5587A>G (p.Lys1863Glu)
c.4951A>G (p.Lys1651Glu)
c.1741A>G (p.Lys581Glu)
5g.177282579A>TCA362316007NSD1c.5134A>T (p.Lys1712Ter)
c.649A>T (p.Lys217Ter)
n.5590A>T
c.5698A>T (p.Lys1900Ter)
n.5404A>T
n.6154A>T
n.4556A>T
c.6007A>T (p.Lys2003Ter)
c.5200A>T (p.Lys1734Ter)
c.1501A>T (p.Lys501Ter)
c.5587A>T (p.Lys1863Ter)
c.4951A>T (p.Lys1651Ter)
c.1741A>T (p.Lys581Ter)
5g.177282580A>CCA362316008NSD1c.5135A>C (p.Lys1712Thr)
c.650A>C (p.Lys217Thr)
n.5591A>C
c.5699A>C (p.Lys1900Thr)
n.5405A>C
n.6155A>C
n.4557A>C
c.6008A>C (p.Lys2003Thr)
c.5201A>C (p.Lys1734Thr)
c.1502A>C (p.Lys501Thr)
c.5588A>C (p.Lys1863Thr)
c.4952A>C (p.Lys1651Thr)
c.1742A>C (p.Lys581Thr)
5g.177282580A>GCA362316009NSD1c.5135A>G (p.Lys1712Arg)
c.650A>G (p.Lys217Arg)
n.5591A>G
c.5699A>G (p.Lys1900Arg)
n.5405A>G
n.6155A>G
n.4557A>G
c.6008A>G (p.Lys2003Arg)
c.5201A>G (p.Lys1734Arg)
c.1502A>G (p.Lys501Arg)
c.5588A>G (p.Lys1863Arg)
c.4952A>G (p.Lys1651Arg)
c.1742A>G (p.Lys581Arg)
5g.177282580A>TCA362316010NSD1c.5135A>T (p.Lys1712Ile)
c.650A>T (p.Lys217Ile)
n.5591A>T
c.5699A>T (p.Lys1900Ile)
n.5405A>T
n.6155A>T
n.4557A>T
c.6008A>T (p.Lys2003Ile)
c.5201A>T (p.Lys1734Ile)
c.1502A>T (p.Lys501Ile)
c.5588A>T (p.Lys1863Ile)
c.4952A>T (p.Lys1651Ile)
c.1742A>T (p.Lys581Ile)
5g.177282586_177282589delCA2695205716NSD1c.5136+5_5136+8del
c.651+5_651+8del
n.5592+5_5592+8del
c.5700+5_5700+8del
n.5406+5_5406+8del
n.6156+5_6156+8del
n.4558+5_4558+8del
c.6009+5_6009+8del
c.5202+5_5202+8del
c.1503+5_1503+8del
c.5589+5_5589+8del
c.4953+5_4953+8del
c.1743+5_1743+8del
5g.177282580_177282581insGAAATACCTCCTGCA2711007703NSD1c.5135_5136insGAAATACCTCCTG (p.Asp1713LysfsTer9)
c.650_651insGAAATACCTCCTG (p.Asp218LysfsTer9)
n.5591_5592insGAAATACCTCCTG
c.5699_5700insGAAATACCTCCTG (p.Asp1901LysfsTer9)
n.5405_5406insGAAATACCTCCTG
n.6155_6156insGAAATACCTCCTG
n.4557_4558insGAAATACCTCCTG
c.6008_6009insGAAATACCTCCTG (p.Asp2004LysfsTer9)
c.5201_5202insGAAATACCTCCTG (p.Asp1735LysfsTer9)
c.1502_1503insGAAATACCTCCTG (p.Asp502LysfsTer9)
c.5588_5589insGAAATACCTCCTG (p.Asp1864LysfsTer9)
c.4952_4953insGAAATACCTCCTG (p.Asp1652LysfsTer9)
c.1742_1743insGAAATACCTCCTG (p.Asp582LysfsTer9)
 dbSNP
5g.177282581A>CCA362316011NSD1c.5136A>C (p.Lys1712Asn)
c.651A>C (p.Lys217Asn)
n.5592A>C
c.5700A>C (p.Lys1900Asn)
n.5406A>C
n.6156A>C
n.4558A>C
c.6009A>C (p.Lys2003Asn)
c.5202A>C (p.Lys1734Asn)
c.1503A>C (p.Lys501Asn)
c.5589A>C (p.Lys1863Asn)
c.4953A>C (p.Lys1651Asn)
c.1743A>C (p.Lys581Asn)
5g.177282581A>GCA447737767NSD1c.5136A>G (p.Lys1712=)
c.651A>G (p.Lys217=)
n.5592A>G
c.5700A>G (p.Lys1900=)
n.5406A>G
n.6156A>G
n.4558A>G
c.6009A>G (p.Lys2003=)
c.5202A>G (p.Lys1734=)
c.1503A>G (p.Lys501=)
c.5589A>G (p.Lys1863=)
c.4953A>G (p.Lys1651=)
c.1743A>G (p.Lys581=)
5g.177282581A>TCA362316012NSD1c.5136A>T (p.Lys1712Asn)
c.651A>T (p.Lys217Asn)
n.5592A>T
c.5700A>T (p.Lys1900Asn)
n.5406A>T
n.6156A>T
n.4558A>T
c.6009A>T (p.Lys2003Asn)
c.5202A>T (p.Lys1734Asn)
c.1503A>T (p.Lys501Asn)
c.5589A>T (p.Lys1863Asn)
c.4953A>T (p.Lys1651Asn)
c.1743A>T (p.Lys581Asn)
5g.177282582G>ACA362316013NSD1c.5136+1G>A (n.5136+1G>A)
c.651+1G>A (n.651+1G>A)
n.5592+1G>A
c.5700+1G>A (n.5700+1G>A)
n.5406+1G>A
n.6156+1G>A
n.4558+1G>A
c.6009+1G>A (n.6009+1G>A)
c.5202+1G>A (n.5202+1G>A)
c.1503+1G>A (n.1503+1G>A)
c.5589+1G>A (n.5589+1G>A)
c.4953+1G>A (n.4953+1G>A)
c.1743+1G>A (n.1743+1G>A)
5g.177282582G>CCA362316015NSD1c.5136+1G>C (n.5136+1G>C)
c.651+1G>C (n.651+1G>C)
n.5592+1G>C
c.5700+1G>C (n.5700+1G>C)
n.5406+1G>C
n.6156+1G>C
n.4558+1G>C
c.6009+1G>C (n.6009+1G>C)
c.5202+1G>C (n.5202+1G>C)
c.1503+1G>C (n.1503+1G>C)
c.5589+1G>C (n.5589+1G>C)
c.4953+1G>C (n.4953+1G>C)
c.1743+1G>C (n.1743+1G>C)
5g.177282582G=CA1603552160NSD1c.5136+1G= (n.5136+1G=)
c.651+1G= (n.651+1G=)
n.5592+1G=
c.5700+1G= (n.5700+1G=)
n.5406+1G=
n.6156+1G=
n.4558+1G=
c.6009+1G= (n.6009+1G=)
c.5202+1G= (n.5202+1G=)
c.1503+1G= (n.1503+1G=)
c.5589+1G= (n.5589+1G=)
c.4953+1G= (n.4953+1G=)
c.1743+1G= (n.1743+1G=)
5g.177282582G>TCA362316014NSD1c.5136+1G>T (n.5136+1G>T)
c.651+1G>T (n.651+1G>T)
n.5592+1G>T
c.5700+1G>T (n.5700+1G>T)
n.5406+1G>T
n.6156+1G>T
n.4558+1G>T
c.6009+1G>T (n.6009+1G>T)
c.5202+1G>T (n.5202+1G>T)
c.1503+1G>T (n.1503+1G>T)
c.5589+1G>T (n.5589+1G>T)
c.4953+1G>T (n.4953+1G>T)
c.1743+1G>T (n.1743+1G>T)
 ClinVar dbSNP
5g.177282583T>ACA362316016NSD1c.5136+2T>A (n.5136+2T>A)
c.651+2T>A (n.651+2T>A)
n.5592+2T>A
c.5700+2T>A (n.5700+2T>A)
n.5406+2T>A
n.6156+2T>A
n.4558+2T>A
c.6009+2T>A (n.6009+2T>A)
c.5202+2T>A (n.5202+2T>A)
c.1503+2T>A (n.1503+2T>A)
c.5589+2T>A (n.5589+2T>A)
c.4953+2T>A (n.4953+2T>A)
c.1743+2T>A (n.1743+2T>A)
 dbSNP gnomAD v4
5g.177282583T>CCA362316017NSD1c.5136+2T>C (n.5136+2T>C)
c.651+2T>C (n.651+2T>C)
n.5592+2T>C
c.5700+2T>C (n.5700+2T>C)
n.5406+2T>C
n.6156+2T>C
n.4558+2T>C
c.6009+2T>C (n.6009+2T>C)
c.5202+2T>C (n.5202+2T>C)
c.1503+2T>C (n.1503+2T>C)
c.5589+2T>C (n.5589+2T>C)
c.4953+2T>C (n.4953+2T>C)
c.1743+2T>C (n.1743+2T>C)
5g.177282583T>GCA362316018NSD1c.5136+2T>G (n.5136+2T>G)
c.651+2T>G (n.651+2T>G)
n.5592+2T>G
c.5700+2T>G (n.5700+2T>G)
n.5406+2T>G
n.6156+2T>G
n.4558+2T>G
c.6009+2T>G (n.6009+2T>G)
c.5202+2T>G (n.5202+2T>G)
c.1503+2T>G (n.1503+2T>G)
c.5589+2T>G (n.5589+2T>G)
c.4953+2T>G (n.4953+2T>G)
c.1743+2T>G (n.1743+2T>G)
5g.177282584A>CCA2573139465NSD1c.5136+3A>C (n.5136+3A>C)
c.651+3A>C (n.651+3A>C)
n.5592+3A>C
c.5700+3A>C (n.5700+3A>C)
n.5406+3A>C
n.6156+3A>C
n.4558+3A>C
c.6009+3A>C (n.6009+3A>C)
c.5202+3A>C (n.5202+3A>C)
c.1503+3A>C (n.1503+3A>C)
c.5589+3A>C (n.5589+3A>C)
c.4953+3A>C (n.4953+3A>C)
c.1743+3A>C (n.1743+3A>C)
 ClinVar dbSNP
5g.177282585dupCA2840344789NSD1c.5136+4dup (n.5136+4dup)
c.651+4dup (n.651+4dup)
n.5592+4dup
c.5700+4dup (n.5700+4dup)
n.5406+4dup
n.6156+4dup
n.4558+4dup
c.6009+4dup (n.6009+4dup)
c.5202+4dup (n.5202+4dup)
c.1503+4dup (n.1503+4dup)
c.5589+4dup (n.5589+4dup)
c.4953+4dup (n.4953+4dup)
c.1743+4dup (n.1743+4dup)
5g.177282585_177282586insTACCTCCTCA2711007712NSD1c.5136+4_5136+5insTACCTCCT (n.5136+4_5136+5insTACCTCCT)
c.651+4_651+5insTACCTCCT (n.651+4_651+5insTACCTCCT)
n.5592+4_5592+5insTACCTCCT
c.5700+4_5700+5insTACCTCCT (n.5700+4_5700+5insTACCTCCT)
n.5406+4_5406+5insTACCTCCT
n.6156+4_6156+5insTACCTCCT
n.4558+4_4558+5insTACCTCCT
c.6009+4_6009+5insTACCTCCT (n.6009+4_6009+5insTACCTCCT)
c.5202+4_5202+5insTACCTCCT (n.5202+4_5202+5insTACCTCCT)
c.1503+4_1503+5insTACCTCCT (n.1503+4_1503+5insTACCTCCT)
c.5589+4_5589+5insTACCTCCT (n.5589+4_5589+5insTACCTCCT)
c.4953+4_4953+5insTACCTCCT (n.4953+4_4953+5insTACCTCCT)
c.1743+4_1743+5insTACCTCCT (n.1743+4_1743+5insTACCTCCT)
 dbSNP
5g.177282587T>ACA2578495040NSD1c.5136+6T>A (n.5136+6T>A)
c.651+6T>A (n.651+6T>A)
n.5592+6T>A
c.5700+6T>A (n.5700+6T>A)
n.5406+6T>A
n.6156+6T>A
n.4558+6T>A
c.6009+6T>A (n.6009+6T>A)
c.5202+6T>A (n.5202+6T>A)
c.1503+6T>A (n.1503+6T>A)
c.5589+6T>A (n.5589+6T>A)
c.4953+6T>A (n.4953+6T>A)
c.1743+6T>A (n.1743+6T>A)
 dbSNP
5g.177282587T>CCA2676691334NSD1c.5136+6T>C (n.5136+6T>C)
c.651+6T>C (n.651+6T>C)
n.5592+6T>C
c.5700+6T>C (n.5700+6T>C)
n.5406+6T>C
n.6156+6T>C
n.4558+6T>C
c.6009+6T>C (n.6009+6T>C)
c.5202+6T>C (n.5202+6T>C)
c.1503+6T>C (n.1503+6T>C)
c.5589+6T>C (n.5589+6T>C)
c.4953+6T>C (n.4953+6T>C)
c.1743+6T>C (n.1743+6T>C)
 gnomAD v4
5g.177282588A>CCA2676691335NSD1c.5136+7A>C (n.5136+7A>C)
c.651+7A>C (n.651+7A>C)
n.5592+7A>C
c.5700+7A>C (n.5700+7A>C)
n.5406+7A>C
n.6156+7A>C
n.4558+7A>C
c.6009+7A>C (n.6009+7A>C)
c.5202+7A>C (n.5202+7A>C)
c.1503+7A>C (n.1503+7A>C)
c.5589+7A>C (n.5589+7A>C)
c.4953+7A>C (n.4953+7A>C)
c.1743+7A>C (n.1743+7A>C)
 gnomAD v4
5g.177282590T>CCA2578495041NSD1c.5136+9T>C (n.5136+9T>C)
c.651+9T>C (n.651+9T>C)
n.5592+9T>C
c.5700+9T>C (n.5700+9T>C)
n.5406+9T>C
n.6156+9T>C
n.4558+9T>C
c.6009+9T>C (n.6009+9T>C)
c.5202+9T>C (n.5202+9T>C)
c.1503+9T>C (n.1503+9T>C)
c.5589+9T>C (n.5589+9T>C)
c.4953+9T>C (n.4953+9T>C)
c.1743+9T>C (n.1743+9T>C)
 gnomAD v4
5g.177282591G>ACA2676691336NSD1c.5136+10G>A (n.5136+10G>A)
c.651+10G>A (n.651+10G>A)
n.5592+10G>A
c.5700+10G>A (n.5700+10G>A)
n.5406+10G>A
n.6156+10G>A
n.4558+10G>A
c.6009+10G>A (n.6009+10G>A)
c.5202+10G>A (n.5202+10G>A)
c.1503+10G>A (n.1503+10G>A)
c.5589+10G>A (n.5589+10G>A)
c.4953+10G>A (n.4953+10G>A)
c.1743+10G>A (n.1743+10G>A)
 dbSNP gnomAD v4
5g.177282591G>TCA2711007739NSD1c.5136+10G>T (n.5136+10G>T)
c.651+10G>T (n.651+10G>T)
n.5592+10G>T
c.5700+10G>T (n.5700+10G>T)
n.5406+10G>T
n.6156+10G>T
n.4558+10G>T
c.6009+10G>T (n.6009+10G>T)
c.5202+10G>T (n.5202+10G>T)
c.1503+10G>T (n.1503+10G>T)
c.5589+10G>T (n.5589+10G>T)
c.4953+10G>T (n.4953+10G>T)
c.1743+10G>T (n.1743+10G>T)
 dbSNP
5g.177282592G>ACA2676691337NSD1c.5136+11G>A (n.5136+11G>A)
c.651+11G>A (n.651+11G>A)
n.5592+11G>A
c.5700+11G>A (n.5700+11G>A)
n.5406+11G>A
n.6156+11G>A
n.4558+11G>A
c.6009+11G>A (n.6009+11G>A)
c.5202+11G>A (n.5202+11G>A)
c.1503+11G>A (n.1503+11G>A)
c.5589+11G>A (n.5589+11G>A)
c.4953+11G>A (n.4953+11G>A)
c.1743+11G>A (n.1743+11G>A)
 dbSNP gnomAD v4
5g.177282592G>CCA2711007757NSD1c.5136+11G>C (n.5136+11G>C)
c.651+11G>C (n.651+11G>C)
n.5592+11G>C
c.5700+11G>C (n.5700+11G>C)
n.5406+11G>C
n.6156+11G>C
n.4558+11G>C
c.6009+11G>C (n.6009+11G>C)
c.5202+11G>C (n.5202+11G>C)
c.1503+11G>C (n.1503+11G>C)
c.5589+11G>C (n.5589+11G>C)
c.4953+11G>C (n.4953+11G>C)
c.1743+11G>C (n.1743+11G>C)
 dbSNP
5g.177282592G>TCA650501691NSD1c.5136+11G>T (n.5136+11G>T)
c.651+11G>T (n.651+11G>T)
n.5592+11G>T
c.5700+11G>T (n.5700+11G>T)
n.5406+11G>T
n.6156+11G>T
n.4558+11G>T
c.6009+11G>T (n.6009+11G>T)
c.5202+11G>T (n.5202+11G>T)
c.1503+11G>T (n.1503+11G>T)
c.5589+11G>T (n.5589+11G>T)
c.4953+11G>T (n.4953+11G>T)
c.1743+11G>T (n.1743+11G>T)
 COSMIC
5g.177282593G>ACA1603552164NSD1c.5136+12G>A (n.5136+12G>A)
c.651+12G>A (n.651+12G>A)
n.5592+12G>A
c.5700+12G>A (n.5700+12G>A)
n.5406+12G>A
n.6156+12G>A
n.4558+12G>A
c.6009+12G>A (n.6009+12G>A)
c.5202+12G>A (n.5202+12G>A)
c.1503+12G>A (n.1503+12G>A)
c.5589+12G>A (n.5589+12G>A)
c.4953+12G>A (n.4953+12G>A)
c.1743+12G>A (n.1743+12G>A)
 dbSNP
5g.177282593G=CA1603552162NSD1c.5136+12G= (n.5136+12G=)
c.651+12G= (n.651+12G=)
n.5592+12G=
c.5700+12G= (n.5700+12G=)
n.5406+12G=
n.6156+12G=
n.4558+12G=
c.6009+12G= (n.6009+12G=)
c.5202+12G= (n.5202+12G=)
c.1503+12G= (n.1503+12G=)
c.5589+12G= (n.5589+12G=)
c.4953+12G= (n.4953+12G=)
c.1743+12G= (n.1743+12G=)
5g.177282598G>ACA2676691338NSD1c.5136+17G>A (n.5136+17G>A)
c.651+17G>A (n.651+17G>A)
n.5592+17G>A
c.5700+17G>A (n.5700+17G>A)
n.5406+17G>A
n.6156+17G>A
n.4558+17G>A
c.6009+17G>A (n.6009+17G>A)
c.5202+17G>A (n.5202+17G>A)
c.1503+17G>A (n.1503+17G>A)
c.5589+17G>A (n.5589+17G>A)
c.4953+17G>A (n.4953+17G>A)
c.1743+17G>A (n.1743+17G>A)
 gnomAD v4
5g.177282599C>ACA3577923NSD1c.5136+18C>A (n.5136+18C>A)
c.651+18C>A (n.651+18C>A)
n.5592+18C>A
c.5700+18C>A (n.5700+18C>A)
n.5406+18C>A
n.6156+18C>A
n.4558+18C>A
c.6009+18C>A (n.6009+18C>A)
c.5202+18C>A (n.5202+18C>A)
c.1503+18C>A (n.1503+18C>A)
c.5589+18C>A (n.5589+18C>A)
c.4953+18C>A (n.4953+18C>A)
c.1743+18C>A (n.1743+18C>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.177282599C=CA1603552165NSD1c.5136+18C= (n.5136+18C=)
c.651+18C= (n.651+18C=)
n.5592+18C=
c.5700+18C= (n.5700+18C=)
n.5406+18C=
n.6156+18C=
n.4558+18C=
c.6009+18C= (n.6009+18C=)
c.5202+18C= (n.5202+18C=)
c.1503+18C= (n.1503+18C=)
c.5589+18C= (n.5589+18C=)
c.4953+18C= (n.4953+18C=)
c.1743+18C= (n.1743+18C=)
5g.177282599C>GCA2710740856NSD1c.5136+18C>G (n.5136+18C>G)
c.651+18C>G (n.651+18C>G)
n.5592+18C>G
c.5700+18C>G (n.5700+18C>G)
n.5406+18C>G
n.6156+18C>G
n.4558+18C>G
c.6009+18C>G (n.6009+18C>G)
c.5202+18C>G (n.5202+18C>G)
c.1503+18C>G (n.1503+18C>G)
c.5589+18C>G (n.5589+18C>G)
c.4953+18C>G (n.4953+18C>G)
c.1743+18C>G (n.1743+18C>G)
 dbSNP
5g.177282599C>TCA1603552166NSD1c.5136+18C>T (n.5136+18C>T)
c.651+18C>T (n.651+18C>T)
n.5592+18C>T
c.5700+18C>T (n.5700+18C>T)
n.5406+18C>T
n.6156+18C>T
n.4558+18C>T
c.6009+18C>T (n.6009+18C>T)
c.5202+18C>T (n.5202+18C>T)
c.1503+18C>T (n.1503+18C>T)
c.5589+18C>T (n.5589+18C>T)
c.4953+18C>T (n.4953+18C>T)
c.1743+18C>T (n.1743+18C>T)
 dbSNP
5g.177282600T>ACA2711007758NSD1c.5136+19T>A (n.5136+19T>A)
c.651+19T>A (n.651+19T>A)
n.5592+19T>A
c.5700+19T>A (n.5700+19T>A)
n.5406+19T>A
n.6156+19T>A
n.4558+19T>A
c.6009+19T>A (n.6009+19T>A)
c.5202+19T>A (n.5202+19T>A)
c.1503+19T>A (n.1503+19T>A)
c.5589+19T>A (n.5589+19T>A)
c.4953+19T>A (n.4953+19T>A)
c.1743+19T>A (n.1743+19T>A)
 dbSNP
5g.177282600T>CCA2676691339NSD1c.5136+19T>C (n.5136+19T>C)
c.651+19T>C (n.651+19T>C)
n.5592+19T>C
c.5700+19T>C (n.5700+19T>C)
n.5406+19T>C
n.6156+19T>C
n.4558+19T>C
c.6009+19T>C (n.6009+19T>C)
c.5202+19T>C (n.5202+19T>C)
c.1503+19T>C (n.1503+19T>C)
c.5589+19T>C (n.5589+19T>C)
c.4953+19T>C (n.4953+19T>C)
c.1743+19T>C (n.1743+19T>C)
 gnomAD v4
5g.177282601G>ACA2769563183NSD1c.5136+20G>A (n.5136+20G>A)
c.651+20G>A (n.651+20G>A)
n.5592+20G>A
c.5700+20G>A (n.5700+20G>A)
n.5406+20G>A
n.6156+20G>A
n.4558+20G>A
c.6009+20G>A (n.6009+20G>A)
c.5202+20G>A (n.5202+20G>A)
c.1503+20G>A (n.1503+20G>A)
c.5589+20G>A (n.5589+20G>A)
c.4953+20G>A (n.4953+20G>A)
c.1743+20G>A (n.1743+20G>A)
5g.177282602T>ACA2711007848NSD1c.5136+21T>A (n.5136+21T>A)
c.651+21T>A (n.651+21T>A)
n.5592+21T>A
c.5700+21T>A (n.5700+21T>A)
n.5406+21T>A
n.6156+21T>A
n.4558+21T>A
c.6009+21T>A (n.6009+21T>A)
c.5202+21T>A (n.5202+21T>A)
c.1503+21T>A (n.1503+21T>A)
c.5589+21T>A (n.5589+21T>A)
c.4953+21T>A (n.4953+21T>A)
c.1743+21T>A (n.1743+21T>A)
 dbSNP
5g.177282602T>CCA2676691340NSD1c.5136+21T>C (n.5136+21T>C)
c.651+21T>C (n.651+21T>C)
n.5592+21T>C
c.5700+21T>C (n.5700+21T>C)
n.5406+21T>C
n.6156+21T>C
n.4558+21T>C
c.6009+21T>C (n.6009+21T>C)
c.5202+21T>C (n.5202+21T>C)
c.1503+21T>C (n.1503+21T>C)
c.5589+21T>C (n.5589+21T>C)
c.4953+21T>C (n.4953+21T>C)
c.1743+21T>C (n.1743+21T>C)
 gnomAD v4
5g.177282605dupCA2840344790NSD1c.5136+24dup (n.5136+24dup)
c.651+24dup (n.651+24dup)
n.5592+24dup
c.5700+24dup (n.5700+24dup)
n.5406+24dup
n.6156+24dup
n.4558+24dup
c.6009+24dup (n.6009+24dup)
c.5202+24dup (n.5202+24dup)
c.1503+24dup (n.1503+24dup)
c.5589+24dup (n.5589+24dup)
c.4953+24dup (n.4953+24dup)
c.1743+24dup (n.1743+24dup)
5g.177282606C>ACA2578495042NSD1c.5136+25C>A (n.5136+25C>A)
c.651+25C>A (n.651+25C>A)
n.5592+25C>A
c.5700+25C>A (n.5700+25C>A)
n.5406+25C>A
n.6156+25C>A
n.4558+25C>A
c.6009+25C>A (n.6009+25C>A)
c.5202+25C>A (n.5202+25C>A)
c.1503+25C>A (n.1503+25C>A)
c.5589+25C>A (n.5589+25C>A)
c.4953+25C>A (n.4953+25C>A)
c.1743+25C>A (n.1743+25C>A)
5g.177282606C=CA1603552167NSD1c.5136+25C= (n.5136+25C=)
c.651+25C= (n.651+25C=)
n.5592+25C=
c.5700+25C= (n.5700+25C=)
n.5406+25C=
n.6156+25C=
n.4558+25C=
c.6009+25C= (n.6009+25C=)
c.5202+25C= (n.5202+25C=)
c.1503+25C= (n.1503+25C=)
c.5589+25C= (n.5589+25C=)
c.4953+25C= (n.4953+25C=)
c.1743+25C= (n.1743+25C=)
5g.177282606C>TCA3577924NSD1c.5136+25C>T (n.5136+25C>T)
c.651+25C>T (n.651+25C>T)
n.5592+25C>T
c.5700+25C>T (n.5700+25C>T)
n.5406+25C>T
n.6156+25C>T
n.4558+25C>T
c.6009+25C>T (n.6009+25C>T)
c.5202+25C>T (n.5202+25C>T)
c.1503+25C>T (n.1503+25C>T)
c.5589+25C>T (n.5589+25C>T)
c.4953+25C>T (n.4953+25C>T)
c.1743+25C>T (n.1743+25C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.177282607A>CCA2711007851NSD1c.5136+26A>C (n.5136+26A>C)
c.651+26A>C (n.651+26A>C)
n.5592+26A>C
c.5700+26A>C (n.5700+26A>C)
n.5406+26A>C
n.6156+26A>C
n.4558+26A>C
c.6009+26A>C (n.6009+26A>C)
c.5202+26A>C (n.5202+26A>C)
c.1503+26A>C (n.1503+26A>C)
c.5589+26A>C (n.5589+26A>C)
c.4953+26A>C (n.4953+26A>C)
c.1743+26A>C (n.1743+26A>C)
 dbSNP
5g.177282607A>GCA2711007853NSD1c.5136+26A>G (n.5136+26A>G)
c.651+26A>G (n.651+26A>G)
n.5592+26A>G
c.5700+26A>G (n.5700+26A>G)
n.5406+26A>G
n.6156+26A>G
n.4558+26A>G
c.6009+26A>G (n.6009+26A>G)
c.5202+26A>G (n.5202+26A>G)
c.1503+26A>G (n.1503+26A>G)
c.5589+26A>G (n.5589+26A>G)
c.4953+26A>G (n.4953+26A>G)
c.1743+26A>G (n.1743+26A>G)
 dbSNP
5g.177282607A>TCA2711007910NSD1c.5136+26A>T (n.5136+26A>T)
c.651+26A>T (n.651+26A>T)
n.5592+26A>T
c.5700+26A>T (n.5700+26A>T)
n.5406+26A>T
n.6156+26A>T
n.4558+26A>T
c.6009+26A>T (n.6009+26A>T)
c.5202+26A>T (n.5202+26A>T)
c.1503+26A>T (n.1503+26A>T)
c.5589+26A>T (n.5589+26A>T)
c.4953+26A>T (n.4953+26A>T)
c.1743+26A>T (n.1743+26A>T)
 dbSNP
5g.177282608C>ACA2578495043NSD1c.5136+27C>A (n.5136+27C>A)
c.651+27C>A (n.651+27C>A)
n.5592+27C>A
c.5700+27C>A (n.5700+27C>A)
n.5406+27C>A
n.6156+27C>A
n.4558+27C>A
c.6009+27C>A (n.6009+27C>A)
c.5202+27C>A (n.5202+27C>A)
c.1503+27C>A (n.1503+27C>A)
c.5589+27C>A (n.5589+27C>A)
c.4953+27C>A (n.4953+27C>A)
c.1743+27C>A (n.1743+27C>A)
 dbSNP
5g.177282608C>GCA2711008009NSD1c.5136+27C>G (n.5136+27C>G)
c.651+27C>G (n.651+27C>G)
n.5592+27C>G
c.5700+27C>G (n.5700+27C>G)
n.5406+27C>G
n.6156+27C>G
n.4558+27C>G
c.6009+27C>G (n.6009+27C>G)
c.5202+27C>G (n.5202+27C>G)
c.1503+27C>G (n.1503+27C>G)
c.5589+27C>G (n.5589+27C>G)
c.4953+27C>G (n.4953+27C>G)
c.1743+27C>G (n.1743+27C>G)
 dbSNP
5g.177282608C>TCA2578495044NSD1c.5136+27C>T (n.5136+27C>T)
c.651+27C>T (n.651+27C>T)
n.5592+27C>T
c.5700+27C>T (n.5700+27C>T)
n.5406+27C>T
n.6156+27C>T
n.4558+27C>T
c.6009+27C>T (n.6009+27C>T)
c.5202+27C>T (n.5202+27C>T)
c.1503+27C>T (n.1503+27C>T)
c.5589+27C>T (n.5589+27C>T)
c.4953+27C>T (n.4953+27C>T)
c.1743+27C>T (n.1743+27C>T)
 dbSNP gnomAD v4
5g.177282609T>ACA2711008010NSD1c.5136+28T>A (n.5136+28T>A)
c.651+28T>A (n.651+28T>A)
n.5592+28T>A
c.5700+28T>A (n.5700+28T>A)
n.5406+28T>A
n.6156+28T>A
n.4558+28T>A
c.6009+28T>A (n.6009+28T>A)
c.5202+28T>A (n.5202+28T>A)
c.1503+28T>A (n.1503+28T>A)
c.5589+28T>A (n.5589+28T>A)
c.4953+28T>A (n.4953+28T>A)
c.1743+28T>A (n.1743+28T>A)
 dbSNP
5g.177282610G>ACA808081915NSD1c.5136+29G>A (n.5136+29G>A)
c.651+29G>A (n.651+29G>A)
n.5592+29G>A
c.5700+29G>A (n.5700+29G>A)
n.5406+29G>A
n.6156+29G>A
n.4558+29G>A
c.6009+29G>A (n.6009+29G>A)
c.5202+29G>A (n.5202+29G>A)
c.1503+29G>A (n.1503+29G>A)
c.5589+29G>A (n.5589+29G>A)
c.4953+29G>A (n.4953+29G>A)
c.1743+29G>A (n.1743+29G>A)
 dbSNP gnomAD v3 gnomAD v4
5g.177282610G>CCA1603552171NSD1c.5136+29G>C (n.5136+29G>C)
c.651+29G>C (n.651+29G>C)
n.5592+29G>C
c.5700+29G>C (n.5700+29G>C)
n.5406+29G>C
n.6156+29G>C
n.4558+29G>C
c.6009+29G>C (n.6009+29G>C)
c.5202+29G>C (n.5202+29G>C)
c.1503+29G>C (n.1503+29G>C)
c.5589+29G>C (n.5589+29G>C)
c.4953+29G>C (n.4953+29G>C)
c.1743+29G>C (n.1743+29G>C)
 dbSNP
5g.177282610G=CA1603552169NSD1c.5136+29G= (n.5136+29G=)
c.651+29G= (n.651+29G=)
n.5592+29G=
c.5700+29G= (n.5700+29G=)
n.5406+29G=
n.6156+29G=
n.4558+29G=
c.6009+29G= (n.6009+29G=)
c.5202+29G= (n.5202+29G=)
c.1503+29G= (n.1503+29G=)
c.5589+29G= (n.5589+29G=)
c.4953+29G= (n.4953+29G=)
c.1743+29G= (n.1743+29G=)
5g.177282610_177282611delinsGTCA1603552170NSD1c.5136+29_5136+30delinsGT (n.5136+29_5136+30delinsGT)
c.651+29_651+30delinsGT (n.651+29_651+30delinsGT)
n.5592+29_5592+30delinsGT
c.5700+29_5700+30delinsGT (n.5700+29_5700+30delinsGT)
n.5406+29_5406+30delinsGT
n.6156+29_6156+30delinsGT
n.4558+29_4558+30delinsGT
c.6009+29_6009+30delinsGT (n.6009+29_6009+30delinsGT)
c.5202+29_5202+30delinsGT (n.5202+29_5202+30delinsGT)
c.1503+29_1503+30delinsGT (n.1503+29_1503+30delinsGT)
c.5589+29_5589+30delinsGT (n.5589+29_5589+30delinsGT)
c.4953+29_4953+30delinsGT (n.4953+29_4953+30delinsGT)
c.1743+29_1743+30delinsGT (n.1743+29_1743+30delinsGT)
5g.177282611T>ACA2711008014NSD1c.5136+30T>A (n.5136+30T>A)
c.651+30T>A (n.651+30T>A)
n.5592+30T>A
c.5700+30T>A (n.5700+30T>A)
n.5406+30T>A
n.6156+30T>A
n.4558+30T>A
c.6009+30T>A (n.6009+30T>A)
c.5202+30T>A (n.5202+30T>A)
c.1503+30T>A (n.1503+30T>A)
c.5589+30T>A (n.5589+30T>A)
c.4953+30T>A (n.4953+30T>A)
c.1743+30T>A (n.1743+30T>A)
 dbSNP
5g.177282611T>CCA2711008015NSD1c.5136+30T>C (n.5136+30T>C)
c.651+30T>C (n.651+30T>C)
n.5592+30T>C
c.5700+30T>C (n.5700+30T>C)
n.5406+30T>C
n.6156+30T>C
n.4558+30T>C
c.6009+30T>C (n.6009+30T>C)
c.5202+30T>C (n.5202+30T>C)
c.1503+30T>C (n.1503+30T>C)
c.5589+30T>C (n.5589+30T>C)
c.4953+30T>C (n.4953+30T>C)
c.1743+30T>C (n.1743+30T>C)
 dbSNP
5g.177282612delCA1603552172NSD1c.5136+31del (n.5136+31del)
c.651+31del (n.651+31del)
n.5592+31del
c.5700+31del (n.5700+31del)
n.5406+31del
n.6156+31del
n.4558+31del
c.6009+31del (n.6009+31del)
c.5202+31del (n.5202+31del)
c.1503+31del (n.1503+31del)
c.5589+31del (n.5589+31del)
c.4953+31del (n.4953+31del)
c.1743+31del (n.1743+31del)
 dbSNP
5g.177282612T>ACA2711008016NSD1c.5136+31T>A (n.5136+31T>A)
c.651+31T>A (n.651+31T>A)
n.5592+31T>A
c.5700+31T>A (n.5700+31T>A)
n.5406+31T>A
n.6156+31T>A
n.4558+31T>A
c.6009+31T>A (n.6009+31T>A)
c.5202+31T>A (n.5202+31T>A)
c.1503+31T>A (n.1503+31T>A)
c.5589+31T>A (n.5589+31T>A)
c.4953+31T>A (n.4953+31T>A)
c.1743+31T>A (n.1743+31T>A)
 dbSNP
5g.177282613A>GCA2578495045NSD1c.5136+32A>G (n.5136+32A>G)
c.651+32A>G (n.651+32A>G)
n.5592+32A>G
c.5700+32A>G (n.5700+32A>G)
n.5406+32A>G
n.6156+32A>G
n.4558+32A>G
c.6009+32A>G (n.6009+32A>G)
c.5202+32A>G (n.5202+32A>G)
c.1503+32A>G (n.1503+32A>G)
c.5589+32A>G (n.5589+32A>G)
c.4953+32A>G (n.4953+32A>G)
c.1743+32A>G (n.1743+32A>G)
 gnomAD v4
5g.177282614C>ACA1603552176NSD1c.5136+33C>A (n.5136+33C>A)
c.651+33C>A (n.651+33C>A)
n.5592+33C>A
c.5700+33C>A (n.5700+33C>A)
n.5406+33C>A
n.6156+33C>A
n.4558+33C>A
c.6009+33C>A (n.6009+33C>A)
c.5202+33C>A (n.5202+33C>A)
c.1503+33C>A (n.1503+33C>A)
c.5589+33C>A (n.5589+33C>A)
c.4953+33C>A (n.4953+33C>A)
c.1743+33C>A (n.1743+33C>A)
 dbSNP gnomAD v4
5g.177282614C=CA1603552174NSD1c.5136+33C= (n.5136+33C=)
c.651+33C= (n.651+33C=)
n.5592+33C=
c.5700+33C= (n.5700+33C=)
n.5406+33C=
n.6156+33C=
n.4558+33C=
c.6009+33C= (n.6009+33C=)
c.5202+33C= (n.5202+33C=)
c.1503+33C= (n.1503+33C=)
c.5589+33C= (n.5589+33C=)
c.4953+33C= (n.4953+33C=)
c.1743+33C= (n.1743+33C=)
5g.177282614C>GCA3577926NSD1c.5136+33C>G (n.5136+33C>G)
c.651+33C>G (n.651+33C>G)
n.5592+33C>G
c.5700+33C>G (n.5700+33C>G)
n.5406+33C>G
n.6156+33C>G
n.4558+33C>G
c.6009+33C>G (n.6009+33C>G)
c.5202+33C>G (n.5202+33C>G)
c.1503+33C>G (n.1503+33C>G)
c.5589+33C>G (n.5589+33C>G)
c.4953+33C>G (n.4953+33C>G)
c.1743+33C>G (n.1743+33C>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.177282614C>TCA3577925NSD1c.5136+33C>T (n.5136+33C>T)
c.651+33C>T (n.651+33C>T)
n.5592+33C>T
c.5700+33C>T (n.5700+33C>T)
n.5406+33C>T
n.6156+33C>T
n.4558+33C>T
c.6009+33C>T (n.6009+33C>T)
c.5202+33C>T (n.5202+33C>T)
c.1503+33C>T (n.1503+33C>T)
c.5589+33C>T (n.5589+33C>T)
c.4953+33C>T (n.4953+33C>T)
c.1743+33C>T (n.1743+33C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.177282615A>GCA2578495046NSD1c.5136+34A>G (n.5136+34A>G)
c.651+34A>G (n.651+34A>G)
n.5592+34A>G
c.5700+34A>G (n.5700+34A>G)
n.5406+34A>G
n.6156+34A>G
n.4558+34A>G
c.6009+34A>G (n.6009+34A>G)
c.5202+34A>G (n.5202+34A>G)
c.1503+34A>G (n.1503+34A>G)
c.5589+34A>G (n.5589+34A>G)
c.4953+34A>G (n.4953+34A>G)
c.1743+34A>G (n.1743+34A>G)

Number of alleles fetched