Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.177288826A>CCA362317775NSD1c.5286A>C (p.Glu1762Asp)
c.801A>C (p.Glu267Asp)
n.5742A>C
c.5850A>C (p.Glu1950Asp)
n.5556A>C
c.6159A>C (p.Glu2053Asp)
c.5352A>C (p.Glu1784Asp)
n.301A>C
c.1653A>C (p.Glu551Asp)
c.5739A>C (p.Glu1913Asp)
c.5103A>C (p.Glu1701Asp)
c.1893A>C (p.Glu631Asp)
5g.177288826A>GCA447739712NSD1c.5286A>G (p.Glu1762=)
c.801A>G (p.Glu267=)
n.5742A>G
c.5850A>G (p.Glu1950=)
n.5556A>G
c.6159A>G (p.Glu2053=)
c.5352A>G (p.Glu1784=)
n.301A>G
c.1653A>G (p.Glu551=)
c.5739A>G (p.Glu1913=)
c.5103A>G (p.Glu1701=)
c.1893A>G (p.Glu631=)
 dbSNP
5g.177288826A>TCA362317777NSD1c.5286A>T (p.Glu1762Asp)
c.801A>T (p.Glu267Asp)
n.5742A>T
c.5850A>T (p.Glu1950Asp)
n.5556A>T
c.6159A>T (p.Glu2053Asp)
c.5352A>T (p.Glu1784Asp)
n.301A>T
c.1653A>T (p.Glu551Asp)
c.5739A>T (p.Glu1913Asp)
c.5103A>T (p.Glu1701Asp)
c.1893A>T (p.Glu631Asp)
5g.177288827C>ACA362317780NSD1c.5287C>A (p.Leu1763Ile)
c.802C>A (p.Leu268Ile)
n.5743C>A
c.5851C>A (p.Leu1951Ile)
n.5557C>A
c.6160C>A (p.Leu2054Ile)
c.5353C>A (p.Leu1785Ile)
n.302C>A
c.1654C>A (p.Leu552Ile)
c.5740C>A (p.Leu1914Ile)
c.5104C>A (p.Leu1702Ile)
c.1894C>A (p.Leu632Ile)
5g.177288827C>GCA362317785NSD1c.5287C>G (p.Leu1763Val)
c.802C>G (p.Leu268Val)
n.5743C>G
c.5851C>G (p.Leu1951Val)
n.5557C>G
c.6160C>G (p.Leu2054Val)
c.5353C>G (p.Leu1785Val)
n.302C>G
c.1654C>G (p.Leu552Val)
c.5740C>G (p.Leu1914Val)
c.5104C>G (p.Leu1702Val)
c.1894C>G (p.Leu632Val)
5g.177288827C>TCA362317787NSD1c.5287C>T (p.Leu1763Phe)
c.802C>T (p.Leu268Phe)
n.5743C>T
c.5851C>T (p.Leu1951Phe)
n.5557C>T
c.6160C>T (p.Leu2054Phe)
c.5353C>T (p.Leu1785Phe)
n.302C>T
c.1654C>T (p.Leu552Phe)
c.5740C>T (p.Leu1914Phe)
c.5104C>T (p.Leu1702Phe)
c.1894C>T (p.Leu632Phe)
5g.177288828T>ACA362317791NSD1c.5288T>A (p.Leu1763His)
c.803T>A (p.Leu268His)
n.5744T>A
c.5852T>A (p.Leu1951His)
n.5558T>A
c.6161T>A (p.Leu2054His)
c.5354T>A (p.Leu1785His)
n.303T>A
c.1655T>A (p.Leu552His)
c.5741T>A (p.Leu1914His)
c.5105T>A (p.Leu1702His)
c.1895T>A (p.Leu632His)
5g.177288828T>CCA362317794NSD1c.5288T>C (p.Leu1763Pro)
c.803T>C (p.Leu268Pro)
n.5744T>C
c.5852T>C (p.Leu1951Pro)
n.5558T>C
c.6161T>C (p.Leu2054Pro)
c.5354T>C (p.Leu1785Pro)
n.303T>C
c.1655T>C (p.Leu552Pro)
c.5741T>C (p.Leu1914Pro)
c.5105T>C (p.Leu1702Pro)
c.1895T>C (p.Leu632Pro)
5g.177288828T>GCA362317797NSD1c.5288T>G (p.Leu1763Arg)
c.803T>G (p.Leu268Arg)
n.5744T>G
c.5852T>G (p.Leu1951Arg)
n.5558T>G
c.6161T>G (p.Leu2054Arg)
c.5354T>G (p.Leu1785Arg)
n.303T>G
c.1655T>G (p.Leu552Arg)
c.5741T>G (p.Leu1914Arg)
c.5105T>G (p.Leu1702Arg)
c.1895T>G (p.Leu632Arg)
5g.177288829T>ACA447739717NSD1c.5289T>A (p.Leu1763=)
c.804T>A (p.Leu268=)
n.5745T>A
c.5853T>A (p.Leu1951=)
n.5559T>A
c.6162T>A (p.Leu2054=)
c.5355T>A (p.Leu1785=)
n.304T>A
c.1656T>A (p.Leu552=)
c.5742T>A (p.Leu1914=)
c.5106T>A (p.Leu1702=)
c.1896T>A (p.Leu632=)
5g.177288829T>CCA447739718NSD1c.5289T>C (p.Leu1763=)
c.804T>C (p.Leu268=)
n.5745T>C
c.5853T>C (p.Leu1951=)
n.5559T>C
c.6162T>C (p.Leu2054=)
c.5355T>C (p.Leu1785=)
n.304T>C
c.1656T>C (p.Leu552=)
c.5742T>C (p.Leu1914=)
c.5106T>C (p.Leu1702=)
c.1896T>C (p.Leu632=)
5g.177288829T>GCA447739716NSD1c.5289T>G (p.Leu1763=)
c.804T>G (p.Leu268=)
n.5745T>G
c.5853T>G (p.Leu1951=)
n.5559T>G
c.6162T>G (p.Leu2054=)
c.5355T>G (p.Leu1785=)
n.304T>G
c.1656T>G (p.Leu552=)
c.5742T>G (p.Leu1914=)
c.5106T>G (p.Leu1702=)
c.1896T>G (p.Leu632=)
5g.177288830A>CCA362317800NSD1c.5290A>C (p.Thr1764Pro)
c.805A>C (p.Thr269Pro)
n.5746A>C
c.5854A>C (p.Thr1952Pro)
n.5560A>C
c.6163A>C (p.Thr2055Pro)
c.5356A>C (p.Thr1786Pro)
n.305A>C
c.1657A>C (p.Thr553Pro)
c.5743A>C (p.Thr1915Pro)
c.5107A>C (p.Thr1703Pro)
c.1897A>C (p.Thr633Pro)
5g.177288830A>GCA362317803NSD1c.5290A>G (p.Thr1764Ala)
c.805A>G (p.Thr269Ala)
n.5746A>G
c.5854A>G (p.Thr1952Ala)
n.5560A>G
c.6163A>G (p.Thr2055Ala)
c.5356A>G (p.Thr1786Ala)
n.305A>G
c.1657A>G (p.Thr553Ala)
c.5743A>G (p.Thr1915Ala)
c.5107A>G (p.Thr1703Ala)
c.1897A>G (p.Thr633Ala)
5g.177288830A>TCA362317805NSD1c.5290A>T (p.Thr1764Ser)
c.805A>T (p.Thr269Ser)
n.5746A>T
c.5854A>T (p.Thr1952Ser)
n.5560A>T
c.6163A>T (p.Thr2055Ser)
c.5356A>T (p.Thr1786Ser)
n.305A>T
c.1657A>T (p.Thr553Ser)
c.5743A>T (p.Thr1915Ser)
c.5107A>T (p.Thr1703Ser)
c.1897A>T (p.Thr633Ser)
5g.177288830_177288831delinsACCA1603528887NSD1c.5290_5291delinsAC (p.Thr1764=)
c.805_806delinsAC (p.Thr269=)
n.5746_5747delinsAC
c.5854_5855delinsAC (p.Thr1952=)
n.5560_5561delinsAC
c.6163_6164delinsAC (p.Thr2055=)
c.5356_5357delinsAC (p.Thr1786=)
n.305_306delinsAC
c.1657_1658delinsAC (p.Thr553=)
c.5743_5744delinsAC (p.Thr1915=)
c.5107_5108delinsAC (p.Thr1703=)
c.1897_1898delinsAC (p.Thr633=)
5g.177288831C>ACA362317814NSD1c.5291C>A (p.Thr1764Asn)
c.806C>A (p.Thr269Asn)
n.5747C>A
c.5855C>A (p.Thr1952Asn)
n.5561C>A
c.6164C>A (p.Thr2055Asn)
c.5357C>A (p.Thr1786Asn)
n.306C>A
c.1658C>A (p.Thr553Asn)
c.5744C>A (p.Thr1915Asn)
c.5108C>A (p.Thr1703Asn)
c.1898C>A (p.Thr633Asn)
5g.177288831C>GCA362317817NSD1c.5291C>G (p.Thr1764Ser)
c.806C>G (p.Thr269Ser)
n.5747C>G
c.5855C>G (p.Thr1952Ser)
n.5561C>G
c.6164C>G (p.Thr2055Ser)
c.5357C>G (p.Thr1786Ser)
n.306C>G
c.1658C>G (p.Thr553Ser)
c.5744C>G (p.Thr1915Ser)
c.5108C>G (p.Thr1703Ser)
c.1898C>G (p.Thr633Ser)
5g.177288831C>TCA362317811NSD1c.5291C>T (p.Thr1764Ile)
c.806C>T (p.Thr269Ile)
n.5747C>T
c.5855C>T (p.Thr1952Ile)
n.5561C>T
c.6164C>T (p.Thr2055Ile)
c.5357C>T (p.Thr1786Ile)
n.306C>T
c.1658C>T (p.Thr553Ile)
c.5744C>T (p.Thr1915Ile)
c.5108C>T (p.Thr1703Ile)
c.1898C>T (p.Thr633Ile)
5g.177288832delCA295048NSD1c.5292del (p.Phe1765SerfsTer5)
c.807del (p.Phe270SerfsTer5)
n.5748del
c.5856del (p.Phe1953SerfsTer5)
n.5562del
c.6165del (p.Phe2056SerfsTer5)
c.5358del (p.Phe1787SerfsTer5)
n.307del
c.1659del (p.Phe554SerfsTer5)
c.5745del (p.Phe1916SerfsTer5)
c.5109del (p.Phe1704SerfsTer5)
c.1899del (p.Phe634SerfsTer5)
 ClinVar dbSNP
5g.177288832C>ACA447739722NSD1c.5292C>A (p.Thr1764=)
c.807C>A (p.Thr269=)
n.5748C>A
c.5856C>A (p.Thr1952=)
n.5562C>A
c.6165C>A (p.Thr2055=)
c.5358C>A (p.Thr1786=)
n.307C>A
c.1659C>A (p.Thr553=)
c.5745C>A (p.Thr1915=)
c.5109C>A (p.Thr1703=)
c.1899C>A (p.Thr633=)
5g.177288832C>GCA447739726NSD1c.5292C>G (p.Thr1764=)
c.807C>G (p.Thr269=)
n.5748C>G
c.5856C>G (p.Thr1952=)
n.5562C>G
c.6165C>G (p.Thr2055=)
c.5358C>G (p.Thr1786=)
n.307C>G
c.1659C>G (p.Thr553=)
c.5745C>G (p.Thr1915=)
c.5109C>G (p.Thr1703=)
c.1899C>G (p.Thr633=)
5g.177288832C>TCA447739724NSD1c.5292C>T (p.Thr1764=)
c.807C>T (p.Thr269=)
n.5748C>T
c.5856C>T (p.Thr1952=)
n.5562C>T
c.6165C>T (p.Thr2055=)
c.5358C>T (p.Thr1786=)
n.307C>T
c.1659C>T (p.Thr553=)
c.5745C>T (p.Thr1915=)
c.5109C>T (p.Thr1703=)
c.1899C>T (p.Thr633=)
5g.177288833T>ACA362317825NSD1c.5293T>A (p.Phe1765Ile)
c.808T>A (p.Phe270Ile)
n.5749T>A
c.5857T>A (p.Phe1953Ile)
n.5563T>A
c.6166T>A (p.Phe2056Ile)
c.5359T>A (p.Phe1787Ile)
n.308T>A
c.1660T>A (p.Phe554Ile)
c.5746T>A (p.Phe1916Ile)
c.5110T>A (p.Phe1704Ile)
c.1900T>A (p.Phe634Ile)
5g.177288833T>CCA362317821NSD1c.5293T>C (p.Phe1765Leu)
c.808T>C (p.Phe270Leu)
n.5749T>C
c.5857T>C (p.Phe1953Leu)
n.5563T>C
c.6166T>C (p.Phe2056Leu)
c.5359T>C (p.Phe1787Leu)
n.308T>C
c.1660T>C (p.Phe554Leu)
c.5746T>C (p.Phe1916Leu)
c.5110T>C (p.Phe1704Leu)
c.1900T>C (p.Phe634Leu)
5g.177288833T>GCA362317822NSD1c.5293T>G (p.Phe1765Val)
c.808T>G (p.Phe270Val)
n.5749T>G
c.5857T>G (p.Phe1953Val)
n.5563T>G
c.6166T>G (p.Phe2056Val)
c.5359T>G (p.Phe1787Val)
n.308T>G
c.1660T>G (p.Phe554Val)
c.5746T>G (p.Phe1916Val)
c.5110T>G (p.Phe1704Val)
c.1900T>G (p.Phe634Val)
5g.177288834T>ACA362317829NSD1c.5294T>A (p.Phe1765Tyr)
c.809T>A (p.Phe270Tyr)
n.5750T>A
c.5858T>A (p.Phe1953Tyr)
n.5564T>A
c.6167T>A (p.Phe2056Tyr)
c.5360T>A (p.Phe1787Tyr)
n.309T>A
c.1661T>A (p.Phe554Tyr)
c.5747T>A (p.Phe1916Tyr)
c.5111T>A (p.Phe1704Tyr)
c.1901T>A (p.Phe634Tyr)
5g.177288834T>CCA362317831NSD1c.5294T>C (p.Phe1765Ser)
c.809T>C (p.Phe270Ser)
n.5750T>C
c.5858T>C (p.Phe1953Ser)
n.5564T>C
c.6167T>C (p.Phe2056Ser)
c.5360T>C (p.Phe1787Ser)
n.309T>C
c.1661T>C (p.Phe554Ser)
c.5747T>C (p.Phe1916Ser)
c.5111T>C (p.Phe1704Ser)
c.1901T>C (p.Phe634Ser)
5g.177288834T>GCA362317834NSD1c.5294T>G (p.Phe1765Cys)
c.809T>G (p.Phe270Cys)
n.5750T>G
c.5858T>G (p.Phe1953Cys)
n.5564T>G
c.6167T>G (p.Phe2056Cys)
c.5360T>G (p.Phe1787Cys)
n.309T>G
c.1661T>G (p.Phe554Cys)
c.5747T>G (p.Phe1916Cys)
c.5111T>G (p.Phe1704Cys)
c.1901T>G (p.Phe634Cys)
5g.177288835C>ACA362317837NSD1c.5295C>A (p.Phe1765Leu)
c.810C>A (p.Phe270Leu)
n.5751C>A
c.5859C>A (p.Phe1953Leu)
n.5565C>A
c.6168C>A (p.Phe2056Leu)
c.5361C>A (p.Phe1787Leu)
n.310C>A
c.1662C>A (p.Phe554Leu)
c.5748C>A (p.Phe1916Leu)
c.5112C>A (p.Phe1704Leu)
c.1902C>A (p.Phe634Leu)
5g.177288835C>GCA362317839NSD1c.5295C>G (p.Phe1765Leu)
c.810C>G (p.Phe270Leu)
n.5751C>G
c.5859C>G (p.Phe1953Leu)
n.5565C>G
c.6168C>G (p.Phe2056Leu)
c.5361C>G (p.Phe1787Leu)
n.310C>G
c.1662C>G (p.Phe554Leu)
c.5748C>G (p.Phe1916Leu)
c.5112C>G (p.Phe1704Leu)
c.1902C>G (p.Phe634Leu)
5g.177288835C>TCA447739747NSD1c.5295C>T (p.Phe1765=)
c.810C>T (p.Phe270=)
n.5751C>T
c.5859C>T (p.Phe1953=)
n.5565C>T
c.6168C>T (p.Phe2056=)
c.5361C>T (p.Phe1787=)
n.310C>T
c.1662C>T (p.Phe554=)
c.5748C>T (p.Phe1916=)
c.5112C>T (p.Phe1704=)
c.1902C>T (p.Phe634=)
5g.177288836A>CCA362317843NSD1c.5296A>C (p.Asn1766His)
c.811A>C (p.Asn271His)
n.5752A>C
c.5860A>C (p.Asn1954His)
n.5566A>C
c.6169A>C (p.Asn2057His)
c.5362A>C (p.Asn1788His)
n.311A>C
c.1663A>C (p.Asn555His)
c.5749A>C (p.Asn1917His)
c.5113A>C (p.Asn1705His)
c.1903A>C (p.Asn635His)
5g.177288836A>GCA362317845NSD1c.5296A>G (p.Asn1766Asp)
c.811A>G (p.Asn271Asp)
n.5752A>G
c.5860A>G (p.Asn1954Asp)
n.5566A>G
c.6169A>G (p.Asn2057Asp)
c.5362A>G (p.Asn1788Asp)
n.311A>G
c.1663A>G (p.Asn555Asp)
c.5749A>G (p.Asn1917Asp)
c.5113A>G (p.Asn1705Asp)
c.1903A>G (p.Asn635Asp)
 COSMIC COSMIC
5g.177288836A>TCA362317848NSD1c.5296A>T (p.Asn1766Tyr)
c.811A>T (p.Asn271Tyr)
n.5752A>T
c.5860A>T (p.Asn1954Tyr)
n.5566A>T
c.6169A>T (p.Asn2057Tyr)
c.5362A>T (p.Asn1788Tyr)
n.311A>T
c.1663A>T (p.Asn555Tyr)
c.5749A>T (p.Asn1917Tyr)
c.5113A>T (p.Asn1705Tyr)
c.1903A>T (p.Asn635Tyr)
5g.177288837A=CA1603528896NSD1c.5297A= (p.Asn1766=)
c.812A= (p.Asn271=)
n.5753A=
c.5861A= (p.Asn1954=)
n.5567A=
c.6170A= (p.Asn2057=)
c.5363A= (p.Asn1788=)
n.312A=
c.1664A= (p.Asn555=)
c.5750A= (p.Asn1917=)
c.5114A= (p.Asn1705=)
c.1904A= (p.Asn635=)
5g.177288837A>CCA362317850NSD1c.5297A>C (p.Asn1766Thr)
c.812A>C (p.Asn271Thr)
n.5753A>C
c.5861A>C (p.Asn1954Thr)
n.5567A>C
c.6170A>C (p.Asn2057Thr)
c.5363A>C (p.Asn1788Thr)
n.312A>C
c.1664A>C (p.Asn555Thr)
c.5750A>C (p.Asn1917Thr)
c.5114A>C (p.Asn1705Thr)
c.1904A>C (p.Asn635Thr)
5g.177288837A>GCA362317853NSD1c.5297A>G (p.Asn1766Ser)
c.812A>G (p.Asn271Ser)
n.5753A>G
c.5861A>G (p.Asn1954Ser)
n.5567A>G
c.6170A>G (p.Asn2057Ser)
c.5363A>G (p.Asn1788Ser)
n.312A>G
c.1664A>G (p.Asn555Ser)
c.5750A>G (p.Asn1917Ser)
c.5114A>G (p.Asn1705Ser)
c.1904A>G (p.Asn635Ser)
 ClinVar dbSNP
5g.177288837A>TCA362317855NSD1c.5297A>T (p.Asn1766Ile)
c.812A>T (p.Asn271Ile)
n.5753A>T
c.5861A>T (p.Asn1954Ile)
n.5567A>T
c.6170A>T (p.Asn2057Ile)
c.5363A>T (p.Asn1788Ile)
n.312A>T
c.1664A>T (p.Asn555Ile)
c.5750A>T (p.Asn1917Ile)
c.5114A>T (p.Asn1705Ile)
c.1904A>T (p.Asn635Ile)
5g.177288838C>ACA362317862NSD1c.5298C>A (p.Asn1766Lys)
c.813C>A (p.Asn271Lys)
n.5754C>A
c.5862C>A (p.Asn1954Lys)
n.5568C>A
c.6171C>A (p.Asn2057Lys)
c.5364C>A (p.Asn1788Lys)
n.313C>A
c.1665C>A (p.Asn555Lys)
c.5751C>A (p.Asn1917Lys)
c.5115C>A (p.Asn1705Lys)
c.1905C>A (p.Asn635Lys)
5g.177288838C>GCA362317858NSD1c.5298C>G (p.Asn1766Lys)
c.813C>G (p.Asn271Lys)
n.5754C>G
c.5862C>G (p.Asn1954Lys)
n.5568C>G
c.6171C>G (p.Asn2057Lys)
c.5364C>G (p.Asn1788Lys)
n.313C>G
c.1665C>G (p.Asn555Lys)
c.5751C>G (p.Asn1917Lys)
c.5115C>G (p.Asn1705Lys)
c.1905C>G (p.Asn635Lys)
5g.177288838C>TCA447739769NSD1c.5298C>T (p.Asn1766=)
c.813C>T (p.Asn271=)
n.5754C>T
c.5862C>T (p.Asn1954=)
n.5568C>T
c.6171C>T (p.Asn2057=)
c.5364C>T (p.Asn1788=)
n.313C>T
c.1665C>T (p.Asn555=)
c.5751C>T (p.Asn1917=)
c.5115C>T (p.Asn1705=)
c.1905C>T (p.Asn635=)
 gnomAD v4
5g.177288839T>ACA362317866NSD1c.5299T>A (p.Tyr1767Asn)
c.814T>A (p.Tyr272Asn)
n.5755T>A
c.5863T>A (p.Tyr1955Asn)
n.5569T>A
c.6172T>A (p.Tyr2058Asn)
c.5365T>A (p.Tyr1789Asn)
n.314T>A
c.1666T>A (p.Tyr556Asn)
c.5752T>A (p.Tyr1918Asn)
c.5116T>A (p.Tyr1706Asn)
c.1906T>A (p.Tyr636Asn)
5g.177288839T>CCA362317871NSD1c.5299T>C (p.Tyr1767His)
c.814T>C (p.Tyr272His)
n.5755T>C
c.5863T>C (p.Tyr1955His)
n.5569T>C
c.6172T>C (p.Tyr2058His)
c.5365T>C (p.Tyr1789His)
n.314T>C
c.1666T>C (p.Tyr556His)
c.5752T>C (p.Tyr1918His)
c.5116T>C (p.Tyr1706His)
c.1906T>C (p.Tyr636His)
5g.177288839T>GCA362317873NSD1c.5299T>G (p.Tyr1767Asp)
c.814T>G (p.Tyr272Asp)
n.5755T>G
c.5863T>G (p.Tyr1955Asp)
n.5569T>G
c.6172T>G (p.Tyr2058Asp)
c.5365T>G (p.Tyr1789Asp)
n.314T>G
c.1666T>G (p.Tyr556Asp)
c.5752T>G (p.Tyr1918Asp)
c.5116T>G (p.Tyr1706Asp)
c.1906T>G (p.Tyr636Asp)
5g.177288840A=CA1603528902NSD1c.5300A= (p.Tyr1767=)
c.815A= (p.Tyr272=)
n.5756A=
c.5864A= (p.Tyr1955=)
n.5570A=
c.6173A= (p.Tyr2058=)
c.5366A= (p.Tyr1789=)
n.315A=
c.1667A= (p.Tyr556=)
c.5753A= (p.Tyr1918=)
c.5117A= (p.Tyr1706=)
c.1907A= (p.Tyr636=)
5g.177288840A>CCA362317875NSD1c.5300A>C (p.Tyr1767Ser)
c.815A>C (p.Tyr272Ser)
n.5756A>C
c.5864A>C (p.Tyr1955Ser)
n.5570A>C
c.6173A>C (p.Tyr2058Ser)
c.5366A>C (p.Tyr1789Ser)
n.315A>C
c.1667A>C (p.Tyr556Ser)
c.5753A>C (p.Tyr1918Ser)
c.5117A>C (p.Tyr1706Ser)
c.1907A>C (p.Tyr636Ser)
5g.177288840A>GCA223692NSD1c.5300A>G (p.Tyr1767Cys)
c.815A>G (p.Tyr272Cys)
n.5756A>G
c.5864A>G (p.Tyr1955Cys)
n.5570A>G
c.6173A>G (p.Tyr2058Cys)
c.5366A>G (p.Tyr1789Cys)
n.315A>G
c.1667A>G (p.Tyr556Cys)
c.5753A>G (p.Tyr1918Cys)
c.5117A>G (p.Tyr1706Cys)
c.1907A>G (p.Tyr636Cys)
 ClinVar dbSNP
5g.177288840A>TCA362317878NSD1c.5300A>T (p.Tyr1767Phe)
c.815A>T (p.Tyr272Phe)
n.5756A>T
c.5864A>T (p.Tyr1955Phe)
n.5570A>T
c.6173A>T (p.Tyr2058Phe)
c.5366A>T (p.Tyr1789Phe)
n.315A>T
c.1667A>T (p.Tyr556Phe)
c.5753A>T (p.Tyr1918Phe)
c.5117A>T (p.Tyr1706Phe)
c.1907A>T (p.Tyr636Phe)
5g.177288841C>ACA362317881NSD1c.5301C>A (p.Tyr1767Ter)
c.816C>A (p.Tyr272Ter)
n.5757C>A
c.5865C>A (p.Tyr1955Ter)
n.5571C>A
c.6174C>A (p.Tyr2058Ter)
c.5367C>A (p.Tyr1789Ter)
n.316C>A
c.1668C>A (p.Tyr556Ter)
c.5754C>A (p.Tyr1918Ter)
c.5118C>A (p.Tyr1706Ter)
c.1908C>A (p.Tyr636Ter)
5g.177288841C>GCA362317883NSD1c.5301C>G (p.Tyr1767Ter)
c.816C>G (p.Tyr272Ter)
n.5757C>G
c.5865C>G (p.Tyr1955Ter)
n.5571C>G
c.6174C>G (p.Tyr2058Ter)
c.5367C>G (p.Tyr1789Ter)
n.316C>G
c.1668C>G (p.Tyr556Ter)
c.5754C>G (p.Tyr1918Ter)
c.5118C>G (p.Tyr1706Ter)
c.1908C>G (p.Tyr636Ter)
5g.177288841C>TCA447739778NSD1c.5301C>T (p.Tyr1767=)
c.816C>T (p.Tyr272=)
n.5757C>T
c.5865C>T (p.Tyr1955=)
n.5571C>T
c.6174C>T (p.Tyr2058=)
c.5367C>T (p.Tyr1789=)
n.316C>T
c.1668C>T (p.Tyr556=)
c.5754C>T (p.Tyr1918=)
c.5118C>T (p.Tyr1706=)
c.1908C>T (p.Tyr636=)
5g.177288842A>CCA362317887NSD1c.5302A>C (p.Asn1768His)
c.817A>C (p.Asn273His)
n.5758A>C
c.5866A>C (p.Asn1956His)
n.5572A>C
c.6175A>C (p.Asn2059His)
c.5368A>C (p.Asn1790His)
n.317A>C
c.1669A>C (p.Asn557His)
c.5755A>C (p.Asn1919His)
c.5119A>C (p.Asn1707His)
c.1909A>C (p.Asn637His)
5g.177288842A>GCA362317890NSD1c.5302A>G (p.Asn1768Asp)
c.817A>G (p.Asn273Asp)
n.5758A>G
c.5866A>G (p.Asn1956Asp)
n.5572A>G
c.6175A>G (p.Asn2059Asp)
c.5368A>G (p.Asn1790Asp)
n.317A>G
c.1669A>G (p.Asn557Asp)
c.5755A>G (p.Asn1919Asp)
c.5119A>G (p.Asn1707Asp)
c.1909A>G (p.Asn637Asp)
5g.177288842A>TCA362317892NSD1c.5302A>T (p.Asn1768Tyr)
c.817A>T (p.Asn273Tyr)
n.5758A>T
c.5866A>T (p.Asn1956Tyr)
n.5572A>T
c.6175A>T (p.Asn2059Tyr)
c.5368A>T (p.Asn1790Tyr)
n.317A>T
c.1669A>T (p.Asn557Tyr)
c.5755A>T (p.Asn1919Tyr)
c.5119A>T (p.Asn1707Tyr)
c.1909A>T (p.Asn637Tyr)
5g.177288843A>CCA362317897NSD1c.5303A>C (p.Asn1768Thr)
c.818A>C (p.Asn273Thr)
n.5759A>C
c.5867A>C (p.Asn1956Thr)
n.5573A>C
c.6176A>C (p.Asn2059Thr)
c.5369A>C (p.Asn1790Thr)
n.318A>C
c.1670A>C (p.Asn557Thr)
c.5756A>C (p.Asn1919Thr)
c.5120A>C (p.Asn1707Thr)
c.1910A>C (p.Asn637Thr)
5g.177288843A>GCA362317899NSD1c.5303A>G (p.Asn1768Ser)
c.818A>G (p.Asn273Ser)
n.5759A>G
c.5867A>G (p.Asn1956Ser)
n.5573A>G
c.6176A>G (p.Asn2059Ser)
c.5369A>G (p.Asn1790Ser)
n.318A>G
c.1670A>G (p.Asn557Ser)
c.5756A>G (p.Asn1919Ser)
c.5120A>G (p.Asn1707Ser)
c.1910A>G (p.Asn637Ser)
 ClinVar
5g.177288843A>TCA362317903NSD1c.5303A>T (p.Asn1768Ile)
c.818A>T (p.Asn273Ile)
n.5759A>T
c.5867A>T (p.Asn1956Ile)
n.5573A>T
c.6176A>T (p.Asn2059Ile)
c.5369A>T (p.Asn1790Ile)
n.318A>T
c.1670A>T (p.Asn557Ile)
c.5756A>T (p.Asn1919Ile)
c.5120A>T (p.Asn1707Ile)
c.1910A>T (p.Asn637Ile)
5g.177288844C>ACA362317906NSD1c.5304C>A (p.Asn1768Lys)
c.819C>A (p.Asn273Lys)
n.5760C>A
c.5868C>A (p.Asn1956Lys)
n.5574C>A
c.6177C>A (p.Asn2059Lys)
c.5370C>A (p.Asn1790Lys)
n.319C>A
c.1671C>A (p.Asn557Lys)
c.5757C>A (p.Asn1919Lys)
c.5121C>A (p.Asn1707Lys)
c.1911C>A (p.Asn637Lys)
5g.177288844C>GCA362317908NSD1c.5304C>G (p.Asn1768Lys)
c.819C>G (p.Asn273Lys)
n.5760C>G
c.5868C>G (p.Asn1956Lys)
n.5574C>G
c.6177C>G (p.Asn2059Lys)
c.5370C>G (p.Asn1790Lys)
n.319C>G
c.1671C>G (p.Asn557Lys)
c.5757C>G (p.Asn1919Lys)
c.5121C>G (p.Asn1707Lys)
c.1911C>G (p.Asn637Lys)
5g.177288844C>TCA447739789NSD1c.5304C>T (p.Asn1768=)
c.819C>T (p.Asn273=)
n.5760C>T
c.5868C>T (p.Asn1956=)
n.5574C>T
c.6177C>T (p.Asn2059=)
c.5370C>T (p.Asn1790=)
n.319C>T
c.1671C>T (p.Asn557=)
c.5757C>T (p.Asn1919=)
c.5121C>T (p.Asn1707=)
c.1911C>T (p.Asn637=)
 gnomAD v4
5g.177288845C>ACA362317911NSD1c.5305C>A (p.Leu1769Ile)
c.820C>A (p.Leu274Ile)
n.5761C>A
c.5869C>A (p.Leu1957Ile)
n.5575C>A
c.6178C>A (p.Leu2060Ile)
c.5371C>A (p.Leu1791Ile)
n.320C>A
c.1672C>A (p.Leu558Ile)
c.5758C>A (p.Leu1920Ile)
c.5122C>A (p.Leu1708Ile)
c.1912C>A (p.Leu638Ile)
5g.177288845C>GCA362317913NSD1c.5305C>G (p.Leu1769Val)
c.820C>G (p.Leu274Val)
n.5761C>G
c.5869C>G (p.Leu1957Val)
n.5575C>G
c.6178C>G (p.Leu2060Val)
c.5371C>G (p.Leu1791Val)
n.320C>G
c.1672C>G (p.Leu558Val)
c.5758C>G (p.Leu1920Val)
c.5122C>G (p.Leu1708Val)
c.1912C>G (p.Leu638Val)
5g.177288845C>TCA447739794NSD1c.5305C>T (p.Leu1769=)
c.820C>T (p.Leu274=)
n.5761C>T
c.5869C>T (p.Leu1957=)
n.5575C>T
c.6178C>T (p.Leu2060=)
c.5371C>T (p.Leu1791=)
n.320C>T
c.1672C>T (p.Leu558=)
c.5758C>T (p.Leu1920=)
c.5122C>T (p.Leu1708=)
c.1912C>T (p.Leu638=)
5g.177288846T>ACA362317919NSD1c.5306T>A (p.Leu1769Gln)
c.821T>A (p.Leu274Gln)
n.5762T>A
c.5870T>A (p.Leu1957Gln)
n.5576T>A
c.6179T>A (p.Leu2060Gln)
c.5372T>A (p.Leu1791Gln)
n.321T>A
c.1673T>A (p.Leu558Gln)
c.5759T>A (p.Leu1920Gln)
c.5123T>A (p.Leu1708Gln)
c.1913T>A (p.Leu638Gln)
 ClinVar
5g.177288846T>CCA362317922NSD1c.5306T>C (p.Leu1769Pro)
c.821T>C (p.Leu274Pro)
n.5762T>C
c.5870T>C (p.Leu1957Pro)
n.5576T>C
c.6179T>C (p.Leu2060Pro)
c.5372T>C (p.Leu1791Pro)
n.321T>C
c.1673T>C (p.Leu558Pro)
c.5759T>C (p.Leu1920Pro)
c.5123T>C (p.Leu1708Pro)
c.1913T>C (p.Leu638Pro)
5g.177288846T>GCA362317925NSD1c.5306T>G (p.Leu1769Arg)
c.821T>G (p.Leu274Arg)
n.5762T>G
c.5870T>G (p.Leu1957Arg)
n.5576T>G
c.6179T>G (p.Leu2060Arg)
c.5372T>G (p.Leu1791Arg)
n.321T>G
c.1673T>G (p.Leu558Arg)
c.5759T>G (p.Leu1920Arg)
c.5123T>G (p.Leu1708Arg)
c.1913T>G (p.Leu638Arg)
5g.177288847A=CA1603528911NSD1c.5307A= (p.Leu1769=)
c.822A= (p.Leu274=)
n.5763A=
c.5871A= (p.Leu1957=)
n.5577A=
c.6180A= (p.Leu2060=)
c.5373A= (p.Leu1791=)
n.322A=
c.1674A= (p.Leu558=)
c.5760A= (p.Leu1920=)
c.5124A= (p.Leu1708=)
c.1914A= (p.Leu638=)
5g.177288847A>CCA447739802NSD1c.5307A>C (p.Leu1769=)
c.822A>C (p.Leu274=)
n.5763A>C
c.5871A>C (p.Leu1957=)
n.5577A>C
c.6180A>C (p.Leu2060=)
c.5373A>C (p.Leu1791=)
n.322A>C
c.1674A>C (p.Leu558=)
c.5760A>C (p.Leu1920=)
c.5124A>C (p.Leu1708=)
c.1914A>C (p.Leu638=)
5g.177288847A>GCA447739803NSD1c.5307A>G (p.Leu1769=)
c.822A>G (p.Leu274=)
n.5763A>G
c.5871A>G (p.Leu1957=)
n.5577A>G
c.6180A>G (p.Leu2060=)
c.5373A>G (p.Leu1791=)
n.322A>G
c.1674A>G (p.Leu558=)
c.5760A>G (p.Leu1920=)
c.5124A>G (p.Leu1708=)
c.1914A>G (p.Leu638=)
 dbSNP gnomAD v2 gnomAD v4
5g.177288847A>TCA447739807NSD1c.5307A>T (p.Leu1769=)
c.822A>T (p.Leu274=)
n.5763A>T
c.5871A>T (p.Leu1957=)
n.5577A>T
c.6180A>T (p.Leu2060=)
c.5373A>T (p.Leu1791=)
n.322A>T
c.1674A>T (p.Leu558=)
c.5760A>T (p.Leu1920=)
c.5124A>T (p.Leu1708=)
c.1914A>T (p.Leu638=)
5g.177288848G>ACA362317929NSD1c.5308G>A (p.Glu1770Lys)
c.823G>A (p.Glu275Lys)
n.5764G>A
c.5872G>A (p.Glu1958Lys)
n.5578G>A
c.6181G>A (p.Glu2061Lys)
c.5374G>A (p.Glu1792Lys)
n.323G>A
c.1675G>A (p.Glu559Lys)
c.5761G>A (p.Glu1921Lys)
c.5125G>A (p.Glu1709Lys)
c.1915G>A (p.Glu639Lys)
5g.177288848G>CCA362317932NSD1c.5308G>C (p.Glu1770Gln)
c.823G>C (p.Glu275Gln)
n.5764G>C
c.5872G>C (p.Glu1958Gln)
n.5578G>C
c.6181G>C (p.Glu2061Gln)
c.5374G>C (p.Glu1792Gln)
n.323G>C
c.1675G>C (p.Glu559Gln)
c.5761G>C (p.Glu1921Gln)
c.5125G>C (p.Glu1709Gln)
c.1915G>C (p.Glu639Gln)
 dbSNP
5g.177288848G=CA1603528915NSD1c.5308G= (p.Glu1770=)
c.823G= (p.Glu275=)
n.5764G=
c.5872G= (p.Glu1958=)
n.5578G=
c.6181G= (p.Glu2061=)
c.5374G= (p.Glu1792=)
n.323G=
c.1675G= (p.Glu559=)
c.5761G= (p.Glu1921=)
c.5125G= (p.Glu1709=)
c.1915G= (p.Glu639=)
5g.177288848G>TCA362317935NSD1c.5308G>T (p.Glu1770Ter)
c.823G>T (p.Glu275Ter)
n.5764G>T
c.5872G>T (p.Glu1958Ter)
n.5578G>T
c.6181G>T (p.Glu2061Ter)
c.5374G>T (p.Glu1792Ter)
n.323G>T
c.1675G>T (p.Glu559Ter)
c.5761G>T (p.Glu1921Ter)
c.5125G>T (p.Glu1709Ter)
c.1915G>T (p.Glu639Ter)
5g.177288849A>CCA362317940NSD1c.5309A>C (p.Glu1770Ala)
c.824A>C (p.Glu275Ala)
n.5765A>C
c.5873A>C (p.Glu1958Ala)
n.5579A>C
c.6182A>C (p.Glu2061Ala)
c.5375A>C (p.Glu1792Ala)
n.324A>C
c.1676A>C (p.Glu559Ala)
c.5762A>C (p.Glu1921Ala)
c.5126A>C (p.Glu1709Ala)
c.1916A>C (p.Glu639Ala)
5g.177288849A>GCA362317942NSD1c.5309A>G (p.Glu1770Gly)
c.824A>G (p.Glu275Gly)
n.5765A>G
c.5873A>G (p.Glu1958Gly)
n.5579A>G
c.6182A>G (p.Glu2061Gly)
c.5375A>G (p.Glu1792Gly)
n.324A>G
c.1676A>G (p.Glu559Gly)
c.5762A>G (p.Glu1921Gly)
c.5126A>G (p.Glu1709Gly)
c.1916A>G (p.Glu639Gly)
5g.177288849A>TCA362317945NSD1c.5309A>T (p.Glu1770Val)
c.824A>T (p.Glu275Val)
n.5765A>T
c.5873A>T (p.Glu1958Val)
n.5579A>T
c.6182A>T (p.Glu2061Val)
c.5375A>T (p.Glu1792Val)
n.324A>T
c.1676A>T (p.Glu559Val)
c.5762A>T (p.Glu1921Val)
c.5126A>T (p.Glu1709Val)
c.1916A>T (p.Glu639Val)
5g.177288850A>CCA362317948NSD1c.5310A>C (p.Glu1770Asp)
c.825A>C (p.Glu275Asp)
n.5766A>C
c.5874A>C (p.Glu1958Asp)
n.5580A>C
c.6183A>C (p.Glu2061Asp)
c.5376A>C (p.Glu1792Asp)
n.325A>C
c.1677A>C (p.Glu559Asp)
c.5763A>C (p.Glu1921Asp)
c.5127A>C (p.Glu1709Asp)
c.1917A>C (p.Glu639Asp)
5g.177288850A>GCA447739812NSD1c.5310A>G (p.Glu1770=)
c.825A>G (p.Glu275=)
n.5766A>G
c.5874A>G (p.Glu1958=)
n.5580A>G
c.6183A>G (p.Glu2061=)
c.5376A>G (p.Glu1792=)
n.325A>G
c.1677A>G (p.Glu559=)
c.5763A>G (p.Glu1921=)
c.5127A>G (p.Glu1709=)
c.1917A>G (p.Glu639=)
5g.177288850A>TCA362317950NSD1c.5310A>T (p.Glu1770Asp)
c.825A>T (p.Glu275Asp)
n.5766A>T
c.5874A>T (p.Glu1958Asp)
n.5580A>T
c.6183A>T (p.Glu2061Asp)
c.5376A>T (p.Glu1792Asp)
n.325A>T
c.1677A>T (p.Glu559Asp)
c.5763A>T (p.Glu1921Asp)
c.5127A>T (p.Glu1709Asp)
c.1917A>T (p.Glu639Asp)
5g.177288851T>ACA362317957NSD1c.5311T>A (p.Cys1771Ser)
c.826T>A (p.Cys276Ser)
n.5767T>A
c.5875T>A (p.Cys1959Ser)
n.5581T>A
c.6184T>A (p.Cys2062Ser)
c.5377T>A (p.Cys1793Ser)
n.326T>A
c.1678T>A (p.Cys560Ser)
c.5764T>A (p.Cys1922Ser)
c.5128T>A (p.Cys1710Ser)
c.1918T>A (p.Cys640Ser)
5g.177288851T>CCA362317959NSD1c.5311T>C (p.Cys1771Arg)
c.826T>C (p.Cys276Arg)
n.5767T>C
c.5875T>C (p.Cys1959Arg)
n.5581T>C
c.6184T>C (p.Cys2062Arg)
c.5377T>C (p.Cys1793Arg)
n.326T>C
c.1678T>C (p.Cys560Arg)
c.5764T>C (p.Cys1922Arg)
c.5128T>C (p.Cys1710Arg)
c.1918T>C (p.Cys640Arg)
 ClinVar dbSNP gnomAD v4
5g.177288851T>GCA362317954NSD1c.5311T>G (p.Cys1771Gly)
c.826T>G (p.Cys276Gly)
n.5767T>G
c.5875T>G (p.Cys1959Gly)
n.5581T>G
c.6184T>G (p.Cys2062Gly)
c.5377T>G (p.Cys1793Gly)
n.326T>G
c.1678T>G (p.Cys560Gly)
c.5764T>G (p.Cys1922Gly)
c.5128T>G (p.Cys1710Gly)
c.1918T>G (p.Cys640Gly)
5g.177288851T=CA1603528918NSD1c.5311T= (p.Cys1771=)
c.826T= (p.Cys276=)
n.5767T=
c.5875T= (p.Cys1959=)
n.5581T=
c.6184T= (p.Cys2062=)
c.5377T= (p.Cys1793=)
n.326T=
c.1678T= (p.Cys560=)
c.5764T= (p.Cys1922=)
c.5128T= (p.Cys1710=)
c.1918T= (p.Cys640=)
5g.177288852G>ACA362317963NSD1c.5312G>A (p.Cys1771Tyr)
c.827G>A (p.Cys276Tyr)
n.5768G>A
c.5876G>A (p.Cys1959Tyr)
n.5582G>A
c.6185G>A (p.Cys2062Tyr)
c.5378G>A (p.Cys1793Tyr)
n.327G>A
c.1679G>A (p.Cys560Tyr)
c.5765G>A (p.Cys1922Tyr)
c.5129G>A (p.Cys1710Tyr)
c.1919G>A (p.Cys640Tyr)
5g.177288852G>CCA362317966NSD1c.5312G>C (p.Cys1771Ser)
c.827G>C (p.Cys276Ser)
n.5768G>C
c.5876G>C (p.Cys1959Ser)
n.5582G>C
c.6185G>C (p.Cys2062Ser)
c.5378G>C (p.Cys1793Ser)
n.327G>C
c.1679G>C (p.Cys560Ser)
c.5765G>C (p.Cys1922Ser)
c.5129G>C (p.Cys1710Ser)
c.1919G>C (p.Cys640Ser)
5g.177288852G>TCA362317969NSD1c.5312G>T (p.Cys1771Phe)
c.827G>T (p.Cys276Phe)
n.5768G>T
c.5876G>T (p.Cys1959Phe)
n.5582G>T
c.6185G>T (p.Cys2062Phe)
c.5378G>T (p.Cys1793Phe)
n.327G>T
c.1679G>T (p.Cys560Phe)
c.5765G>T (p.Cys1922Phe)
c.5129G>T (p.Cys1710Phe)
c.1919G>T (p.Cys640Phe)
5g.177288853T>ACA362317972NSD1c.5313T>A (p.Cys1771Ter)
c.828T>A (p.Cys276Ter)
n.5769T>A
c.5877T>A (p.Cys1959Ter)
n.5583T>A
c.6186T>A (p.Cys2062Ter)
c.5379T>A (p.Cys1793Ter)
n.328T>A
c.1680T>A (p.Cys560Ter)
c.5766T>A (p.Cys1922Ter)
c.5130T>A (p.Cys1710Ter)
c.1920T>A (p.Cys640Ter)
5g.177288853T>CCA447739829NSD1c.5313T>C (p.Cys1771=)
c.828T>C (p.Cys276=)
n.5769T>C
c.5877T>C (p.Cys1959=)
n.5583T>C
c.6186T>C (p.Cys2062=)
c.5379T>C (p.Cys1793=)
n.328T>C
c.1680T>C (p.Cys560=)
c.5766T>C (p.Cys1922=)
c.5130T>C (p.Cys1710=)
c.1920T>C (p.Cys640=)
5g.177288853T>GCA362317977NSD1c.5313T>G (p.Cys1771Trp)
c.828T>G (p.Cys276Trp)
n.5769T>G
c.5877T>G (p.Cys1959Trp)
n.5583T>G
c.6186T>G (p.Cys2062Trp)
c.5379T>G (p.Cys1793Trp)
n.328T>G
c.1680T>G (p.Cys560Trp)
c.5766T>G (p.Cys1922Trp)
c.5130T>G (p.Cys1710Trp)
c.1920T>G (p.Cys640Trp)
5g.177288854C>ACA362317986NSD1c.5314C>A (p.Leu1772Ile)
c.829C>A (p.Leu277Ile)
n.5770C>A
c.5878C>A (p.Leu1960Ile)
n.5584C>A
c.6187C>A (p.Leu2063Ile)
c.5380C>A (p.Leu1794Ile)
n.329C>A
c.1681C>A (p.Leu561Ile)
c.5767C>A (p.Leu1923Ile)
c.5131C>A (p.Leu1711Ile)
c.1921C>A (p.Leu641Ile)
5g.177288854C>GCA362317980NSD1c.5314C>G (p.Leu1772Val)
c.829C>G (p.Leu277Val)
n.5770C>G
c.5878C>G (p.Leu1960Val)
n.5584C>G
c.6187C>G (p.Leu2063Val)
c.5380C>G (p.Leu1794Val)
n.329C>G
c.1681C>G (p.Leu561Val)
c.5767C>G (p.Leu1923Val)
c.5131C>G (p.Leu1711Val)
c.1921C>G (p.Leu641Val)
5g.177288854C>TCA362317983NSD1c.5314C>T (p.Leu1772Phe)
c.829C>T (p.Leu277Phe)
n.5770C>T
c.5878C>T (p.Leu1960Phe)
n.5584C>T
c.6187C>T (p.Leu2063Phe)
c.5380C>T (p.Leu1794Phe)
n.329C>T
c.1681C>T (p.Leu561Phe)
c.5767C>T (p.Leu1923Phe)
c.5131C>T (p.Leu1711Phe)
c.1921C>T (p.Leu641Phe)
 dbSNP
5g.177288855T>ACA362317990NSD1c.5315T>A (p.Leu1772His)
c.830T>A (p.Leu277His)
n.5771T>A
c.5879T>A (p.Leu1960His)
n.5585T>A
c.6188T>A (p.Leu2063His)
c.5381T>A (p.Leu1794His)
n.330T>A
c.1682T>A (p.Leu561His)
c.5768T>A (p.Leu1923His)
c.5132T>A (p.Leu1711His)
c.1922T>A (p.Leu641His)
5g.177288855T>CCA362317992NSD1c.5315T>C (p.Leu1772Pro)
c.830T>C (p.Leu277Pro)
n.5771T>C
c.5879T>C (p.Leu1960Pro)
n.5585T>C
c.6188T>C (p.Leu2063Pro)
c.5381T>C (p.Leu1794Pro)
n.330T>C
c.1682T>C (p.Leu561Pro)
c.5768T>C (p.Leu1923Pro)
c.5132T>C (p.Leu1711Pro)
c.1922T>C (p.Leu641Pro)
5g.177288855T>GCA362317995NSD1c.5315T>G (p.Leu1772Arg)
c.830T>G (p.Leu277Arg)
n.5771T>G
c.5879T>G (p.Leu1960Arg)
n.5585T>G
c.6188T>G (p.Leu2063Arg)
c.5381T>G (p.Leu1794Arg)
n.330T>G
c.1682T>G (p.Leu561Arg)
c.5768T>G (p.Leu1923Arg)
c.5132T>G (p.Leu1711Arg)
c.1922T>G (p.Leu641Arg)
5g.177288856T>ACA447739842NSD1c.5316T>A (p.Leu1772=)
c.831T>A (p.Leu277=)
n.5772T>A
c.5880T>A (p.Leu1960=)
n.5586T>A
c.6189T>A (p.Leu2063=)
c.5382T>A (p.Leu1794=)
n.331T>A
c.1683T>A (p.Leu561=)
c.5769T>A (p.Leu1923=)
c.5133T>A (p.Leu1711=)
c.1923T>A (p.Leu641=)
5g.177288856T>CCA447739844NSD1c.5316T>C (p.Leu1772=)
c.831T>C (p.Leu277=)
n.5772T>C
c.5880T>C (p.Leu1960=)
n.5586T>C
c.6189T>C (p.Leu2063=)
c.5382T>C (p.Leu1794=)
n.331T>C
c.1683T>C (p.Leu561=)
c.5769T>C (p.Leu1923=)
c.5133T>C (p.Leu1711=)
c.1923T>C (p.Leu641=)
 dbSNP
5g.177288856T>GCA447739845NSD1c.5316T>G (p.Leu1772=)
c.831T>G (p.Leu277=)
n.5772T>G
c.5880T>G (p.Leu1960=)
n.5586T>G
c.6189T>G (p.Leu2063=)
c.5382T>G (p.Leu1794=)
n.331T>G
c.1683T>G (p.Leu561=)
c.5769T>G (p.Leu1923=)
c.5133T>G (p.Leu1711=)
c.1923T>G (p.Leu641=)
5g.177288856T=CA1603528921NSD1c.5316T= (p.Leu1772=)
c.831T= (p.Leu277=)
n.5772T=
c.5880T= (p.Leu1960=)
n.5586T=
c.6189T= (p.Leu2063=)
c.5382T= (p.Leu1794=)
n.331T=
c.1683T= (p.Leu561=)
c.5769T= (p.Leu1923=)
c.5133T= (p.Leu1711=)
c.1923T= (p.Leu641=)
5g.177288857G>ACA362317997NSD1c.5317G>A (p.Gly1773Arg)
c.832G>A (p.Gly278Arg)
n.5773G>A
c.5881G>A (p.Gly1961Arg)
n.5587G>A
c.6190G>A (p.Gly2064Arg)
c.5383G>A (p.Gly1795Arg)
n.332G>A
c.1684G>A (p.Gly562Arg)
c.5770G>A (p.Gly1924Arg)
c.5134G>A (p.Gly1712Arg)
c.1924G>A (p.Gly642Arg)
5g.177288857G>CCA362317999NSD1c.5317G>C (p.Gly1773Arg)
c.832G>C (p.Gly278Arg)
n.5773G>C
c.5881G>C (p.Gly1961Arg)
n.5587G>C
c.6190G>C (p.Gly2064Arg)
c.5383G>C (p.Gly1795Arg)
n.332G>C
c.1684G>C (p.Gly562Arg)
c.5770G>C (p.Gly1924Arg)
c.5134G>C (p.Gly1712Arg)
c.1924G>C (p.Gly642Arg)
5g.177288857G>TCA362318003NSD1c.5317G>T (p.Gly1773Trp)
c.832G>T (p.Gly278Trp)
n.5773G>T
c.5881G>T (p.Gly1961Trp)
n.5587G>T
c.6190G>T (p.Gly2064Trp)
c.5383G>T (p.Gly1795Trp)
n.332G>T
c.1684G>T (p.Gly562Trp)
c.5770G>T (p.Gly1924Trp)
c.5134G>T (p.Gly1712Trp)
c.1924G>T (p.Gly642Trp)
5g.177288858G>ACA362318008NSD1c.5318G>A (p.Gly1773Glu)
c.833G>A (p.Gly278Glu)
n.5774G>A
c.5882G>A (p.Gly1961Glu)
n.5588G>A
c.6191G>A (p.Gly2064Glu)
c.5384G>A (p.Gly1795Glu)
n.333G>A
c.1685G>A (p.Gly562Glu)
c.5771G>A (p.Gly1924Glu)
c.5135G>A (p.Gly1712Glu)
c.1925G>A (p.Gly642Glu)
5g.177288858G>CCA362318012NSD1c.5318G>C (p.Gly1773Ala)
c.833G>C (p.Gly278Ala)
n.5774G>C
c.5882G>C (p.Gly1961Ala)
n.5588G>C
c.6191G>C (p.Gly2064Ala)
c.5384G>C (p.Gly1795Ala)
n.333G>C
c.1685G>C (p.Gly562Ala)
c.5771G>C (p.Gly1924Ala)
c.5135G>C (p.Gly1712Ala)
c.1925G>C (p.Gly642Ala)
5g.177288858G>TCA362318007NSD1c.5318G>T (p.Gly1773Val)
c.833G>T (p.Gly278Val)
n.5774G>T
c.5882G>T (p.Gly1961Val)
n.5588G>T
c.6191G>T (p.Gly2064Val)
c.5384G>T (p.Gly1795Val)
n.333G>T
c.1685G>T (p.Gly562Val)
c.5771G>T (p.Gly1924Val)
c.5135G>T (p.Gly1712Val)
c.1925G>T (p.Gly642Val)
5g.177288859G>ACA447739851NSD1c.5319G>A (p.Gly1773=)
c.834G>A (p.Gly278=)
n.5775G>A
c.5883G>A (p.Gly1961=)
n.5589G>A
c.6192G>A (p.Gly2064=)
c.5385G>A (p.Gly1795=)
n.334G>A
c.1686G>A (p.Gly562=)
c.5772G>A (p.Gly1924=)
c.5136G>A (p.Gly1712=)
c.1926G>A (p.Gly642=)
 dbSNP
5g.177288859G>CCA447739853NSD1c.5319G>C (p.Gly1773=)
c.834G>C (p.Gly278=)
n.5775G>C
c.5883G>C (p.Gly1961=)
n.5589G>C
c.6192G>C (p.Gly2064=)
c.5385G>C (p.Gly1795=)
n.334G>C
c.1686G>C (p.Gly562=)
c.5772G>C (p.Gly1924=)
c.5136G>C (p.Gly1712=)
c.1926G>C (p.Gly642=)
5g.177288859G>TCA447739856NSD1c.5319G>T (p.Gly1773=)
c.834G>T (p.Gly278=)
n.5775G>T
c.5883G>T (p.Gly1961=)
n.5589G>T
c.6192G>T (p.Gly2064=)
c.5385G>T (p.Gly1795=)
n.334G>T
c.1686G>T (p.Gly562=)
c.5772G>T (p.Gly1924=)
c.5136G>T (p.Gly1712=)
c.1926G>T (p.Gly642=)
 gnomAD v4
5g.177288860A>CCA362318020NSD1c.5320A>C (p.Asn1774His)
c.835A>C (p.Asn279His)
n.5776A>C
c.5884A>C (p.Asn1962His)
n.5590A>C
c.6193A>C (p.Asn2065His)
c.5386A>C (p.Asn1796His)
n.335A>C
c.1687A>C (p.Asn563His)
c.5773A>C (p.Asn1925His)
c.5137A>C (p.Asn1713His)
c.1927A>C (p.Asn643His)
5g.177288860A>GCA362318018NSD1c.5320A>G (p.Asn1774Asp)
c.835A>G (p.Asn279Asp)
n.5776A>G
c.5884A>G (p.Asn1962Asp)
n.5590A>G
c.6193A>G (p.Asn2065Asp)
c.5386A>G (p.Asn1796Asp)
n.335A>G
c.1687A>G (p.Asn563Asp)
c.5773A>G (p.Asn1925Asp)
c.5137A>G (p.Asn1713Asp)
c.1927A>G (p.Asn643Asp)
5g.177288860A>TCA362318022NSD1c.5320A>T (p.Asn1774Tyr)
c.835A>T (p.Asn279Tyr)
n.5776A>T
c.5884A>T (p.Asn1962Tyr)
n.5590A>T
c.6193A>T (p.Asn2065Tyr)
c.5386A>T (p.Asn1796Tyr)
n.335A>T
c.1687A>T (p.Asn563Tyr)
c.5773A>T (p.Asn1925Tyr)
c.5137A>T (p.Asn1713Tyr)
c.1927A>T (p.Asn643Tyr)
5g.177288861A>CCA362318030NSD1c.5321A>C (p.Asn1774Thr)
c.836A>C (p.Asn279Thr)
n.5777A>C
c.5885A>C (p.Asn1962Thr)
n.5591A>C
c.6194A>C (p.Asn2065Thr)
c.5387A>C (p.Asn1796Thr)
n.336A>C
c.1688A>C (p.Asn563Thr)
c.5774A>C (p.Asn1925Thr)
c.5138A>C (p.Asn1713Thr)
c.1928A>C (p.Asn643Thr)
5g.177288861A>GCA362318032NSD1c.5321A>G (p.Asn1774Ser)
c.836A>G (p.Asn279Ser)
n.5777A>G
c.5885A>G (p.Asn1962Ser)
n.5591A>G
c.6194A>G (p.Asn2065Ser)
c.5387A>G (p.Asn1796Ser)
n.336A>G
c.1688A>G (p.Asn563Ser)
c.5774A>G (p.Asn1925Ser)
c.5138A>G (p.Asn1713Ser)
c.1928A>G (p.Asn643Ser)
5g.177288861A>TCA362318033NSD1c.5321A>T (p.Asn1774Ile)
c.836A>T (p.Asn279Ile)
n.5777A>T
c.5885A>T (p.Asn1962Ile)
n.5591A>T
c.6194A>T (p.Asn2065Ile)
c.5387A>T (p.Asn1796Ile)
n.336A>T
c.1688A>T (p.Asn563Ile)
c.5774A>T (p.Asn1925Ile)
c.5138A>T (p.Asn1713Ile)
c.1928A>T (p.Asn643Ile)
5g.177288862T>ACA362318036NSD1c.5322T>A (p.Asn1774Lys)
c.837T>A (p.Asn279Lys)
n.5778T>A
c.5886T>A (p.Asn1962Lys)
n.5592T>A
c.6195T>A (p.Asn2065Lys)
c.5388T>A (p.Asn1796Lys)
n.337T>A
c.1689T>A (p.Asn563Lys)
c.5775T>A (p.Asn1925Lys)
c.5139T>A (p.Asn1713Lys)
c.1929T>A (p.Asn643Lys)
5g.177288862T>CCA447739870NSD1c.5322T>C (p.Asn1774=)
c.837T>C (p.Asn279=)
n.5778T>C
c.5886T>C (p.Asn1962=)
n.5592T>C
c.6195T>C (p.Asn2065=)
c.5388T>C (p.Asn1796=)
n.337T>C
c.1689T>C (p.Asn563=)
c.5775T>C (p.Asn1925=)
c.5139T>C (p.Asn1713=)
c.1929T>C (p.Asn643=)
 gnomAD v4
5g.177288862T>GCA362318040NSD1c.5322T>G (p.Asn1774Lys)
c.837T>G (p.Asn279Lys)
n.5778T>G
c.5886T>G (p.Asn1962Lys)
n.5592T>G
c.6195T>G (p.Asn2065Lys)
c.5388T>G (p.Asn1796Lys)
n.337T>G
c.1689T>G (p.Asn563Lys)
c.5775T>G (p.Asn1925Lys)
c.5139T>G (p.Asn1713Lys)
c.1929T>G (p.Asn643Lys)
5g.177288863G>ACA362318045NSD1c.5323G>A (p.Gly1775Arg)
c.838G>A (p.Gly280Arg)
n.5779G>A
c.5887G>A (p.Gly1963Arg)
n.5593G>A
c.6196G>A (p.Gly2066Arg)
c.5389G>A (p.Gly1797Arg)
n.338G>A
c.1690G>A (p.Gly564Arg)
c.5776G>A (p.Gly1926Arg)
c.5140G>A (p.Gly1714Arg)
c.1930G>A (p.Gly644Arg)
5g.177288863G>CCA362318047NSD1c.5323G>C (p.Gly1775Arg)
c.838G>C (p.Gly280Arg)
n.5779G>C
c.5887G>C (p.Gly1963Arg)
n.5593G>C
c.6196G>C (p.Gly2066Arg)
c.5389G>C (p.Gly1797Arg)
n.338G>C
c.1690G>C (p.Gly564Arg)
c.5776G>C (p.Gly1926Arg)
c.5140G>C (p.Gly1714Arg)
c.1930G>C (p.Gly644Arg)
5g.177288863G>TCA362318049NSD1c.5323G>T (p.Gly1775Ter)
c.838G>T (p.Gly280Ter)
n.5779G>T
c.5887G>T (p.Gly1963Ter)
n.5593G>T
c.6196G>T (p.Gly2066Ter)
c.5389G>T (p.Gly1797Ter)
n.338G>T
c.1690G>T (p.Gly564Ter)
c.5776G>T (p.Gly1926Ter)
c.5140G>T (p.Gly1714Ter)
c.1930G>T (p.Gly644Ter)
5g.177288864G>ACA362318054NSD1c.5324G>A (p.Gly1775Glu)
c.839G>A (p.Gly280Glu)
n.5780G>A
c.5888G>A (p.Gly1963Glu)
n.5594G>A
c.6197G>A (p.Gly2066Glu)
c.5390G>A (p.Gly1797Glu)
n.339G>A
c.1691G>A (p.Gly564Glu)
c.5777G>A (p.Gly1926Glu)
c.5141G>A (p.Gly1714Glu)
c.1931G>A (p.Gly644Glu)
5g.177288864G>CCA362318055NSD1c.5324G>C (p.Gly1775Ala)
c.839G>C (p.Gly280Ala)
n.5780G>C
c.5888G>C (p.Gly1963Ala)
n.5594G>C
c.6197G>C (p.Gly2066Ala)
c.5390G>C (p.Gly1797Ala)
n.339G>C
c.1691G>C (p.Gly564Ala)
c.5777G>C (p.Gly1926Ala)
c.5141G>C (p.Gly1714Ala)
c.1931G>C (p.Gly644Ala)
5g.177288864G>TCA362318057NSD1c.5324G>T (p.Gly1775Val)
c.839G>T (p.Gly280Val)
n.5780G>T
c.5888G>T (p.Gly1963Val)
n.5594G>T
c.6197G>T (p.Gly2066Val)
c.5390G>T (p.Gly1797Val)
n.339G>T
c.1691G>T (p.Gly564Val)
c.5777G>T (p.Gly1926Val)
c.5141G>T (p.Gly1714Val)
c.1931G>T (p.Gly644Val)
5g.177288865A>CCA447739881NSD1c.5325A>C (p.Gly1775=)
c.840A>C (p.Gly280=)
n.5781A>C
c.5889A>C (p.Gly1963=)
n.5595A>C
c.6198A>C (p.Gly2066=)
c.5391A>C (p.Gly1797=)
n.340A>C
c.1692A>C (p.Gly564=)
c.5778A>C (p.Gly1926=)
c.5142A>C (p.Gly1714=)
c.1932A>C (p.Gly644=)
5g.177288865A>GCA447739884NSD1c.5325A>G (p.Gly1775=)
c.840A>G (p.Gly280=)
n.5781A>G
c.5889A>G (p.Gly1963=)
n.5595A>G
c.6198A>G (p.Gly2066=)
c.5391A>G (p.Gly1797=)
n.340A>G
c.1692A>G (p.Gly564=)
c.5778A>G (p.Gly1926=)
c.5142A>G (p.Gly1714=)
c.1932A>G (p.Gly644=)
5g.177288865A>TCA447739886NSD1c.5325A>T (p.Gly1775=)
c.840A>T (p.Gly280=)
n.5781A>T
c.5889A>T (p.Gly1963=)
n.5595A>T
c.6198A>T (p.Gly2066=)
c.5391A>T (p.Gly1797=)
n.340A>T
c.1692A>T (p.Gly564=)
c.5778A>T (p.Gly1926=)
c.5142A>T (p.Gly1714=)
c.1932A>T (p.Gly644=)
5g.177288866A>CCA362318060NSD1c.5326A>C (p.Lys1776Gln)
c.841A>C (p.Lys281Gln)
n.5782A>C
c.5890A>C (p.Lys1964Gln)
n.5596A>C
c.6199A>C (p.Lys2067Gln)
c.5392A>C (p.Lys1798Gln)
n.341A>C
c.1693A>C (p.Lys565Gln)
c.5779A>C (p.Lys1927Gln)
c.5143A>C (p.Lys1715Gln)
c.1933A>C (p.Lys645Gln)
5g.177288866A>GCA362318063NSD1c.5326A>G (p.Lys1776Glu)
c.841A>G (p.Lys281Glu)
n.5782A>G
c.5890A>G (p.Lys1964Glu)
n.5596A>G
c.6199A>G (p.Lys2067Glu)
c.5392A>G (p.Lys1798Glu)
n.341A>G
c.1693A>G (p.Lys565Glu)
c.5779A>G (p.Lys1927Glu)
c.5143A>G (p.Lys1715Glu)
c.1933A>G (p.Lys645Glu)
 COSMIC COSMIC
5g.177288866A>TCA362318064NSD1c.5326A>T (p.Lys1776Ter)
c.841A>T (p.Lys281Ter)
n.5782A>T
c.5890A>T (p.Lys1964Ter)
n.5596A>T
c.6199A>T (p.Lys2067Ter)
c.5392A>T (p.Lys1798Ter)
n.341A>T
c.1693A>T (p.Lys565Ter)
c.5779A>T (p.Lys1927Ter)
c.5143A>T (p.Lys1715Ter)
c.1933A>T (p.Lys645Ter)
5g.177288867A=CA1603528923NSD1c.5327A= (p.Lys1776=)
c.842A= (p.Lys281=)
n.5783A=
c.5891A= (p.Lys1964=)
n.5597A=
c.6200A= (p.Lys2067=)
c.5393A= (p.Lys1798=)
n.342A=
c.1694A= (p.Lys565=)
c.5780A= (p.Lys1927=)
c.5144A= (p.Lys1715=)
c.1934A= (p.Lys645=)
5g.177288867A>CCA362318067NSD1c.5327A>C (p.Lys1776Thr)
c.842A>C (p.Lys281Thr)
n.5783A>C
c.5891A>C (p.Lys1964Thr)
n.5597A>C
c.6200A>C (p.Lys2067Thr)
c.5393A>C (p.Lys1798Thr)
n.342A>C
c.1694A>C (p.Lys565Thr)
c.5780A>C (p.Lys1927Thr)
c.5144A>C (p.Lys1715Thr)
c.1934A>C (p.Lys645Thr)
5g.177288867A>GCA362318066NSD1c.5327A>G (p.Lys1776Arg)
c.842A>G (p.Lys281Arg)
n.5783A>G
c.5891A>G (p.Lys1964Arg)
n.5597A>G
c.6200A>G (p.Lys2067Arg)
c.5393A>G (p.Lys1798Arg)
n.342A>G
c.1694A>G (p.Lys565Arg)
c.5780A>G (p.Lys1927Arg)
c.5144A>G (p.Lys1715Arg)
c.1934A>G (p.Lys645Arg)
5g.177288867A>TCA362318065NSD1c.5327A>T (p.Lys1776Met)
c.842A>T (p.Lys281Met)
n.5783A>T
c.5891A>T (p.Lys1964Met)
n.5597A>T
c.6200A>T (p.Lys2067Met)
c.5393A>T (p.Lys1798Met)
n.342A>T
c.1694A>T (p.Lys565Met)
c.5780A>T (p.Lys1927Met)
c.5144A>T (p.Lys1715Met)
c.1934A>T (p.Lys645Met)
 ClinVar dbSNP gnomAD v4
5g.177288868G>ACA447739898NSD1c.5328G>A (p.Lys1776=)
c.843G>A (p.Lys281=)
n.5784G>A
c.5892G>A (p.Lys1964=)
n.5598G>A
c.6201G>A (p.Lys2067=)
c.5394G>A (p.Lys1798=)
n.343G>A
c.1695G>A (p.Lys565=)
c.5781G>A (p.Lys1927=)
c.5145G>A (p.Lys1715=)
c.1935G>A (p.Lys645=)
5g.177288868G>CCA362318070NSD1c.5328G>C (p.Lys1776Asn)
c.843G>C (p.Lys281Asn)
n.5784G>C
c.5892G>C (p.Lys1964Asn)
n.5598G>C
c.6201G>C (p.Lys2067Asn)
c.5394G>C (p.Lys1798Asn)
n.343G>C
c.1695G>C (p.Lys565Asn)
c.5781G>C (p.Lys1927Asn)
c.5145G>C (p.Lys1715Asn)
c.1935G>C (p.Lys645Asn)
5g.177288868G>TCA362318071NSD1c.5328G>T (p.Lys1776Asn)
c.843G>T (p.Lys281Asn)
n.5784G>T
c.5892G>T (p.Lys1964Asn)
n.5598G>T
c.6201G>T (p.Lys2067Asn)
c.5394G>T (p.Lys1798Asn)
n.343G>T
c.1695G>T (p.Lys565Asn)
c.5781G>T (p.Lys1927Asn)
c.5145G>T (p.Lys1715Asn)
c.1935G>T (p.Lys645Asn)
5g.177288869A=CA1603528926NSD1c.5329A= (p.Thr1777=)
c.844A= (p.Thr282=)
n.5785A=
c.5893A= (p.Thr1965=)
n.5599A=
c.6202A= (p.Thr2068=)
c.5395A= (p.Thr1799=)
n.344A=
c.1696A= (p.Thr566=)
c.5782A= (p.Thr1928=)
c.5146A= (p.Thr1716=)
c.1936A= (p.Thr646=)
5g.177288869A>CCA362318074NSD1c.5329A>C (p.Thr1777Pro)
c.844A>C (p.Thr282Pro)
n.5785A>C
c.5893A>C (p.Thr1965Pro)
n.5599A>C
c.6202A>C (p.Thr2068Pro)
c.5395A>C (p.Thr1799Pro)
n.344A>C
c.1696A>C (p.Thr566Pro)
c.5782A>C (p.Thr1928Pro)
c.5146A>C (p.Thr1716Pro)
c.1936A>C (p.Thr646Pro)
5g.177288869A>GCA362318076NSD1c.5329A>G (p.Thr1777Ala)
c.844A>G (p.Thr282Ala)
n.5785A>G
c.5893A>G (p.Thr1965Ala)
n.5599A>G
c.6202A>G (p.Thr2068Ala)
c.5395A>G (p.Thr1799Ala)
n.344A>G
c.1696A>G (p.Thr566Ala)
c.5782A>G (p.Thr1928Ala)
c.5146A>G (p.Thr1716Ala)
c.1936A>G (p.Thr646Ala)
5g.177288869A>TCA3577953NSD1c.5329A>T (p.Thr1777Ser)
c.844A>T (p.Thr282Ser)
n.5785A>T
c.5893A>T (p.Thr1965Ser)
n.5599A>T
c.6202A>T (p.Thr2068Ser)
c.5395A>T (p.Thr1799Ser)
n.344A>T
c.1696A>T (p.Thr566Ser)
c.5782A>T (p.Thr1928Ser)
c.5146A>T (p.Thr1716Ser)
c.1936A>T (p.Thr646Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.177288870C>ACA362318080NSD1c.5330C>A (p.Thr1777Asn)
c.845C>A (p.Thr282Asn)
n.5786C>A
c.5894C>A (p.Thr1965Asn)
n.5600C>A
c.6203C>A (p.Thr2068Asn)
c.5396C>A (p.Thr1799Asn)
n.345C>A
c.1697C>A (p.Thr566Asn)
c.5783C>A (p.Thr1928Asn)
c.5147C>A (p.Thr1716Asn)
c.1937C>A (p.Thr646Asn)
5g.177288870C=CA1603528933NSD1c.5330C= (p.Thr1777=)
c.845C= (p.Thr282=)
n.5786C=
c.5894C= (p.Thr1965=)
n.5600C=
c.6203C= (p.Thr2068=)
c.5396C= (p.Thr1799=)
n.345C=
c.1697C= (p.Thr566=)
c.5783C= (p.Thr1928=)
c.5147C= (p.Thr1716=)
c.1937C= (p.Thr646=)
5g.177288870C>GCA362318089NSD1c.5330C>G (p.Thr1777Ser)
c.845C>G (p.Thr282Ser)
n.5786C>G
c.5894C>G (p.Thr1965Ser)
n.5600C>G
c.6203C>G (p.Thr2068Ser)
c.5396C>G (p.Thr1799Ser)
n.345C>G
c.1697C>G (p.Thr566Ser)
c.5783C>G (p.Thr1928Ser)
c.5147C>G (p.Thr1716Ser)
c.1937C>G (p.Thr646Ser)
 dbSNP
5g.177288870C>TCA362318093NSD1c.5330C>T (p.Thr1777Ile)
c.845C>T (p.Thr282Ile)
n.5786C>T
c.5894C>T (p.Thr1965Ile)
n.5600C>T
c.6203C>T (p.Thr2068Ile)
c.5396C>T (p.Thr1799Ile)
n.345C>T
c.1697C>T (p.Thr566Ile)
c.5783C>T (p.Thr1928Ile)
c.5147C>T (p.Thr1716Ile)
c.1937C>T (p.Thr646Ile)
 dbSNP gnomAD v3 gnomAD v4
5g.177288870_177288874delinsCTGTTCA1603528936NSD1c.5330_5334delinsCTGTT (p.Thr1777=)
c.845_849delinsCTGTT (p.Thr282=)
n.5786_5790delinsCTGTT
c.5894_5898delinsCTGTT (p.Thr1965=)
n.5600_5604delinsCTGTT
c.6203_6207delinsCTGTT (p.Thr2068=)
c.5396_5400delinsCTGTT (p.Thr1799=)
n.345_349delinsCTGTT
c.1697_1701delinsCTGTT (p.Thr566=)
c.5783_5787delinsCTGTT (p.Thr1928=)
c.5147_5151delinsCTGTT (p.Thr1716=)
c.1937_1941delinsCTGTT (p.Thr646=)
5g.177288871T>ACA447739909NSD1c.5331T>A (p.Thr1777=)
c.846T>A (p.Thr282=)
n.5787T>A
c.5895T>A (p.Thr1965=)
n.5601T>A
c.6204T>A (p.Thr2068=)
c.5397T>A (p.Thr1799=)
n.346T>A
c.1698T>A (p.Thr566=)
c.5784T>A (p.Thr1928=)
c.5148T>A (p.Thr1716=)
c.1938T>A (p.Thr646=)
5g.177288871T>CCA447739911NSD1c.5331T>C (p.Thr1777=)
c.846T>C (p.Thr282=)
n.5787T>C
c.5895T>C (p.Thr1965=)
n.5601T>C
c.6204T>C (p.Thr2068=)
c.5397T>C (p.Thr1799=)
n.346T>C
c.1698T>C (p.Thr566=)
c.5784T>C (p.Thr1928=)
c.5148T>C (p.Thr1716=)
c.1938T>C (p.Thr646=)
 gnomAD v4
5g.177288871T>GCA447739913NSD1c.5331T>G (p.Thr1777=)
c.846T>G (p.Thr282=)
n.5787T>G
c.5895T>G (p.Thr1965=)
n.5601T>G
c.6204T>G (p.Thr2068=)
c.5397T>G (p.Thr1799=)
n.346T>G
c.1698T>G (p.Thr566=)
c.5784T>G (p.Thr1928=)
c.5148T>G (p.Thr1716=)
c.1938T>G (p.Thr646=)
5g.177288872_177288873delCA2695205732NSD1c.5332_5333del (p.Val1778LeufsTer?)
c.847_848del (p.Val283LeufsTer?)
n.5788_5789del
c.5896_5897del (p.Val1966LeufsTer?)
n.5602_5603del
c.6205_6206del (p.Val2069LeufsTer?)
c.5398_5399del (p.Val1800LeufsTer?)
n.347_348del
c.1699_1700del (p.Val567LeufsTer?)
c.5785_5786del (p.Val1929LeufsTer?)
c.5149_5150del (p.Val1717LeufsTer?)
c.1939_1940del (p.Val647LeufsTer?)
5g.177288873_177288876delCA1139659262NSD1c.5333_5336del (p.Val1778AlafsTer14)
c.848_851del (p.Val283AlafsTer14)
n.5789_5792del
c.5897_5900del (p.Val1966AlafsTer14)
n.5603_5606del
c.6206_6209del (p.Val2069AlafsTer14)
c.5399_5402del (p.Val1800AlafsTer14)
n.348_351del
c.1700_1703del (p.Val567AlafsTer14)
c.5786_5789del (p.Val1929AlafsTer14)
c.5150_5153del (p.Val1717AlafsTer14)
c.1940_1943del (p.Val647AlafsTer14)
 ClinVar dbSNP
5g.177288872G>ACA362318096NSD1c.5332G>A (p.Val1778Ile)
c.847G>A (p.Val283Ile)
n.5788G>A
c.5896G>A (p.Val1966Ile)
n.5602G>A
c.6205G>A (p.Val2069Ile)
c.5398G>A (p.Val1800Ile)
n.347G>A
c.1699G>A (p.Val567Ile)
c.5785G>A (p.Val1929Ile)
c.5149G>A (p.Val1717Ile)
c.1939G>A (p.Val647Ile)
5g.177288872G>CCA362318100NSD1c.5332G>C (p.Val1778Leu)
c.847G>C (p.Val283Leu)
n.5788G>C
c.5896G>C (p.Val1966Leu)
n.5602G>C
c.6205G>C (p.Val2069Leu)
c.5398G>C (p.Val1800Leu)
n.347G>C
c.1699G>C (p.Val567Leu)
c.5785G>C (p.Val1929Leu)
c.5149G>C (p.Val1717Leu)
c.1939G>C (p.Val647Leu)
5g.177288872G>TCA362318102NSD1c.5332G>T (p.Val1778Phe)
c.847G>T (p.Val283Phe)
n.5788G>T
c.5896G>T (p.Val1966Phe)
n.5602G>T
c.6205G>T (p.Val2069Phe)
c.5398G>T (p.Val1800Phe)
n.347G>T
c.1699G>T (p.Val567Phe)
c.5785G>T (p.Val1929Phe)
c.5149G>T (p.Val1717Phe)
c.1939G>T (p.Val647Phe)
5g.177288873T>ACA362318106NSD1c.5333T>A (p.Val1778Asp)
c.848T>A (p.Val283Asp)
n.5789T>A
c.5897T>A (p.Val1966Asp)
n.5603T>A
c.6206T>A (p.Val2069Asp)
c.5399T>A (p.Val1800Asp)
n.348T>A
c.1700T>A (p.Val567Asp)
c.5786T>A (p.Val1929Asp)
c.5150T>A (p.Val1717Asp)
c.1940T>A (p.Val647Asp)
5g.177288873T>CCA3577954NSD1c.5333T>C (p.Val1778Ala)
c.848T>C (p.Val283Ala)
n.5789T>C
c.5897T>C (p.Val1966Ala)
n.5603T>C
c.6206T>C (p.Val2069Ala)
c.5399T>C (p.Val1800Ala)
n.348T>C
c.1700T>C (p.Val567Ala)
c.5786T>C (p.Val1929Ala)
c.5150T>C (p.Val1717Ala)
c.1940T>C (p.Val647Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.177288873T>GCA362318110NSD1c.5333T>G (p.Val1778Gly)
c.848T>G (p.Val283Gly)
n.5789T>G
c.5897T>G (p.Val1966Gly)
n.5603T>G
c.6206T>G (p.Val2069Gly)
c.5399T>G (p.Val1800Gly)
n.348T>G
c.1700T>G (p.Val567Gly)
c.5786T>G (p.Val1929Gly)
c.5150T>G (p.Val1717Gly)
c.1940T>G (p.Val647Gly)
5g.177288873T=CA1603528938NSD1c.5333T= (p.Val1778=)
c.848T= (p.Val283=)
n.5789T=
c.5897T= (p.Val1966=)
n.5603T=
c.6206T= (p.Val2069=)
c.5399T= (p.Val1800=)
n.348T=
c.1700T= (p.Val567=)
c.5786T= (p.Val1929=)
c.5150T= (p.Val1717=)
c.1940T= (p.Val647=)
5g.177288874T>ACA447739926NSD1c.5334T>A (p.Val1778=)
c.849T>A (p.Val283=)
n.5790T>A
c.5898T>A (p.Val1966=)
n.5604T>A
c.6207T>A (p.Val2069=)
c.5400T>A (p.Val1800=)
n.349T>A
c.1701T>A (p.Val567=)
c.5787T>A (p.Val1929=)
c.5151T>A (p.Val1717=)
c.1941T>A (p.Val647=)
5g.177288874T>CCA447739929NSD1c.5334T>C (p.Val1778=)
c.849T>C (p.Val283=)
n.5790T>C
c.5898T>C (p.Val1966=)
n.5604T>C
c.6207T>C (p.Val2069=)
c.5400T>C (p.Val1800=)
n.349T>C
c.1701T>C (p.Val567=)
c.5787T>C (p.Val1929=)
c.5151T>C (p.Val1717=)
c.1941T>C (p.Val647=)
5g.177288874T>GCA447739931NSD1c.5334T>G (p.Val1778=)
c.849T>G (p.Val283=)
n.5790T>G
c.5898T>G (p.Val1966=)
n.5604T>G
c.6207T>G (p.Val2069=)
c.5400T>G (p.Val1800=)
n.349T>G
c.1701T>G (p.Val567=)
c.5787T>G (p.Val1929=)
c.5151T>G (p.Val1717=)
c.1941T>G (p.Val647=)
5g.177288875T>ACA362318119NSD1c.5335T>A (p.Cys1779Ser)
c.850T>A (p.Cys284Ser)
n.5791T>A
c.5899T>A (p.Cys1967Ser)
n.5605T>A
c.6208T>A (p.Cys2070Ser)
c.5401T>A (p.Cys1801Ser)
n.350T>A
c.1702T>A (p.Cys568Ser)
c.5788T>A (p.Cys1930Ser)
c.5152T>A (p.Cys1718Ser)
c.1942T>A (p.Cys648Ser)
5g.177288875T>CCA362318117NSD1c.5335T>C (p.Cys1779Arg)
c.850T>C (p.Cys284Arg)
n.5791T>C
c.5899T>C (p.Cys1967Arg)
n.5605T>C
c.6208T>C (p.Cys2070Arg)
c.5401T>C (p.Cys1801Arg)
n.350T>C
c.1702T>C (p.Cys568Arg)
c.5788T>C (p.Cys1930Arg)
c.5152T>C (p.Cys1718Arg)
c.1942T>C (p.Cys648Arg)
 ClinVar dbSNP
5g.177288875T>GCA362318114NSD1c.5335T>G (p.Cys1779Gly)
c.850T>G (p.Cys284Gly)
n.5791T>G
c.5899T>G (p.Cys1967Gly)
n.5605T>G
c.6208T>G (p.Cys2070Gly)
c.5401T>G (p.Cys1801Gly)
n.350T>G
c.1702T>G (p.Cys568Gly)
c.5788T>G (p.Cys1930Gly)
c.5152T>G (p.Cys1718Gly)
c.1942T>G (p.Cys648Gly)
 ClinVar dbSNP
5g.177288875T=CA1603528941NSD1c.5335T= (p.Cys1779=)
c.850T= (p.Cys284=)
n.5791T=
c.5899T= (p.Cys1967=)
n.5605T=
c.6208T= (p.Cys2070=)
c.5401T= (p.Cys1801=)
n.350T=
c.1702T= (p.Cys568=)
c.5788T= (p.Cys1930=)
c.5152T= (p.Cys1718=)
c.1942T= (p.Cys648=)
5g.177288876G>ACA362318122NSD1c.5336G>A (p.Cys1779Tyr)
c.851G>A (p.Cys284Tyr)
n.5792G>A
c.5900G>A (p.Cys1967Tyr)
n.5606G>A
c.6209G>A (p.Cys2070Tyr)
c.5402G>A (p.Cys1801Tyr)
n.351G>A
c.1703G>A (p.Cys568Tyr)
c.5789G>A (p.Cys1930Tyr)
c.5153G>A (p.Cys1718Tyr)
c.1943G>A (p.Cys648Tyr)
5g.177288876G>CCA362318124NSD1c.5336G>C (p.Cys1779Ser)
c.851G>C (p.Cys284Ser)
n.5792G>C
c.5900G>C (p.Cys1967Ser)
n.5606G>C
c.6209G>C (p.Cys2070Ser)
c.5402G>C (p.Cys1801Ser)
n.351G>C
c.1703G>C (p.Cys568Ser)
c.5789G>C (p.Cys1930Ser)
c.5153G>C (p.Cys1718Ser)
c.1943G>C (p.Cys648Ser)
5g.177288876G>TCA362318127NSD1c.5336G>T (p.Cys1779Phe)
c.851G>T (p.Cys284Phe)
n.5792G>T
c.5900G>T (p.Cys1967Phe)
n.5606G>T
c.6209G>T (p.Cys2070Phe)
c.5402G>T (p.Cys1801Phe)
n.351G>T
c.1703G>T (p.Cys568Phe)
c.5789G>T (p.Cys1930Phe)
c.5153G>T (p.Cys1718Phe)
c.1943G>T (p.Cys648Phe)
5g.177288877C>ACA362318130NSD1c.5337C>A (p.Cys1779Ter)
c.852C>A (p.Cys284Ter)
n.5793C>A
c.5901C>A (p.Cys1967Ter)
n.5607C>A
c.6210C>A (p.Cys2070Ter)
c.5403C>A (p.Cys1801Ter)
n.352C>A
c.1704C>A (p.Cys568Ter)
c.5790C>A (p.Cys1930Ter)
c.5154C>A (p.Cys1718Ter)
c.1944C>A (p.Cys648Ter)
5g.177288877C>GCA362318133NSD1c.5337C>G (p.Cys1779Trp)
c.852C>G (p.Cys284Trp)
n.5793C>G
c.5901C>G (p.Cys1967Trp)
n.5607C>G
c.6210C>G (p.Cys2070Trp)
c.5403C>G (p.Cys1801Trp)
n.352C>G
c.1704C>G (p.Cys568Trp)
c.5790C>G (p.Cys1930Trp)
c.5154C>G (p.Cys1718Trp)
c.1944C>G (p.Cys648Trp)
5g.177288877C>TCA447739942NSD1c.5337C>T (p.Cys1779=)
c.852C>T (p.Cys284=)
n.5793C>T
c.5901C>T (p.Cys1967=)
n.5607C>T
c.6210C>T (p.Cys2070=)
c.5403C>T (p.Cys1801=)
n.352C>T
c.1704C>T (p.Cys568=)
c.5790C>T (p.Cys1930=)
c.5154C>T (p.Cys1718=)
c.1944C>T (p.Cys648=)
 dbSNP
5g.177288878A>CCA362318136NSD1c.5338A>C (p.Lys1780Gln)
c.853A>C (p.Lys285Gln)
n.5794A>C
c.5902A>C (p.Lys1968Gln)
n.5608A>C
c.6211A>C (p.Lys2071Gln)
c.5404A>C (p.Lys1802Gln)
n.353A>C
c.1705A>C (p.Lys569Gln)
c.5791A>C (p.Lys1931Gln)
c.5155A>C (p.Lys1719Gln)
c.1945A>C (p.Lys649Gln)
5g.177288878A>GCA362318138NSD1c.5338A>G (p.Lys1780Glu)
c.853A>G (p.Lys285Glu)
n.5794A>G
c.5902A>G (p.Lys1968Glu)
n.5608A>G
c.6211A>G (p.Lys2071Glu)
c.5404A>G (p.Lys1802Glu)
n.353A>G
c.1705A>G (p.Lys569Glu)
c.5791A>G (p.Lys1931Glu)
c.5155A>G (p.Lys1719Glu)
c.1945A>G (p.Lys649Glu)
5g.177288878A>TCA362318145NSD1c.5338A>T (p.Lys1780Ter)
c.853A>T (p.Lys285Ter)
n.5794A>T
c.5902A>T (p.Lys1968Ter)
n.5608A>T
c.6211A>T (p.Lys2071Ter)
c.5404A>T (p.Lys1802Ter)
n.353A>T
c.1705A>T (p.Lys569Ter)
c.5791A>T (p.Lys1931Ter)
c.5155A>T (p.Lys1719Ter)
c.1945A>T (p.Lys649Ter)
5g.177288879A=CA1603528942NSD1c.5339A= (p.Lys1780=)
c.854A= (p.Lys285=)
n.5795A=
c.5903A= (p.Lys1968=)
n.5609A=
c.6212A= (p.Lys2071=)
c.5405A= (p.Lys1802=)
n.354A=
c.1706A= (p.Lys569=)
c.5792A= (p.Lys1931=)
c.5156A= (p.Lys1719=)
c.1946A= (p.Lys649=)
5g.177288879A>CCA362318148NSD1c.5339A>C (p.Lys1780Thr)
c.854A>C (p.Lys285Thr)
n.5795A>C
c.5903A>C (p.Lys1968Thr)
n.5609A>C
c.6212A>C (p.Lys2071Thr)
c.5405A>C (p.Lys1802Thr)
n.354A>C
c.1706A>C (p.Lys569Thr)
c.5792A>C (p.Lys1931Thr)
c.5156A>C (p.Lys1719Thr)
c.1946A>C (p.Lys649Thr)
5g.177288879A>GCA362318150NSD1c.5339A>G (p.Lys1780Arg)
c.854A>G (p.Lys285Arg)
n.5795A>G
c.5903A>G (p.Lys1968Arg)
n.5609A>G
c.6212A>G (p.Lys2071Arg)
c.5405A>G (p.Lys1802Arg)
n.354A>G
c.1706A>G (p.Lys569Arg)
c.5792A>G (p.Lys1931Arg)
c.5156A>G (p.Lys1719Arg)
c.1946A>G (p.Lys649Arg)
 dbSNP gnomAD v2 gnomAD v4
5g.177288879A>TCA362318151NSD1c.5339A>T (p.Lys1780Ile)
c.854A>T (p.Lys285Ile)
n.5795A>T
c.5903A>T (p.Lys1968Ile)
n.5609A>T
c.6212A>T (p.Lys2071Ile)
c.5405A>T (p.Lys1802Ile)
n.354A>T
c.1706A>T (p.Lys569Ile)
c.5792A>T (p.Lys1931Ile)
c.5156A>T (p.Lys1719Ile)
c.1946A>T (p.Lys649Ile)
 gnomAD v4
5g.177288880A>CCA362318154NSD1c.5340A>C (p.Lys1780Asn)
c.855A>C (p.Lys285Asn)
n.5796A>C
c.5904A>C (p.Lys1968Asn)
n.5610A>C
c.6213A>C (p.Lys2071Asn)
c.5406A>C (p.Lys1802Asn)
n.355A>C
c.1707A>C (p.Lys569Asn)
c.5793A>C (p.Lys1931Asn)
c.5157A>C (p.Lys1719Asn)
c.1947A>C (p.Lys649Asn)
5g.177288880A>GCA447739956NSD1c.5340A>G (p.Lys1780=)
c.855A>G (p.Lys285=)
n.5796A>G
c.5904A>G (p.Lys1968=)
n.5610A>G
c.6213A>G (p.Lys2071=)
c.5406A>G (p.Lys1802=)
n.355A>G
c.1707A>G (p.Lys569=)
c.5793A>G (p.Lys1931=)
c.5157A>G (p.Lys1719=)
c.1947A>G (p.Lys649=)
5g.177288880A>TCA362318156NSD1c.5340A>T (p.Lys1780Asn)
c.855A>T (p.Lys285Asn)
n.5796A>T
c.5904A>T (p.Lys1968Asn)
n.5610A>T
c.6213A>T (p.Lys2071Asn)
c.5406A>T (p.Lys1802Asn)
n.355A>T
c.1707A>T (p.Lys569Asn)
c.5793A>T (p.Lys1931Asn)
c.5157A>T (p.Lys1719Asn)
c.1947A>T (p.Lys649Asn)
 gnomAD v4
5g.177288881T>ACA362318163NSD1c.5341T>A (p.Cys1781Ser)
c.856T>A (p.Cys286Ser)
n.5797T>A
c.5905T>A (p.Cys1969Ser)
n.5611T>A
c.6214T>A (p.Cys2072Ser)
c.5407T>A (p.Cys1803Ser)
n.356T>A
c.1708T>A (p.Cys570Ser)
c.5794T>A (p.Cys1932Ser)
c.5158T>A (p.Cys1720Ser)
c.1948T>A (p.Cys650Ser)
5g.177288881T>CCA362318161NSD1c.5341T>C (p.Cys1781Arg)
c.856T>C (p.Cys286Arg)
n.5797T>C
c.5905T>C (p.Cys1969Arg)
n.5611T>C
c.6214T>C (p.Cys2072Arg)
c.5407T>C (p.Cys1803Arg)
n.356T>C
c.1708T>C (p.Cys570Arg)
c.5794T>C (p.Cys1932Arg)
c.5158T>C (p.Cys1720Arg)
c.1948T>C (p.Cys650Arg)
5g.177288881T>GCA362318158NSD1c.5341T>G (p.Cys1781Gly)
c.856T>G (p.Cys286Gly)
n.5797T>G
c.5905T>G (p.Cys1969Gly)
n.5611T>G
c.6214T>G (p.Cys2072Gly)
c.5407T>G (p.Cys1803Gly)
n.356T>G
c.1708T>G (p.Cys570Gly)
c.5794T>G (p.Cys1932Gly)
c.5158T>G (p.Cys1720Gly)
c.1948T>G (p.Cys650Gly)
5g.177288882G>ACA362318165NSD1c.5342G>A (p.Cys1781Tyr)
c.857G>A (p.Cys286Tyr)
n.5798G>A
c.5906G>A (p.Cys1969Tyr)
n.5612G>A
c.6215G>A (p.Cys2072Tyr)
c.5408G>A (p.Cys1803Tyr)
n.357G>A
c.1709G>A (p.Cys570Tyr)
c.5795G>A (p.Cys1932Tyr)
c.5159G>A (p.Cys1720Tyr)
c.1949G>A (p.Cys650Tyr)
5g.177288882G>CCA362318168NSD1c.5342G>C (p.Cys1781Ser)
c.857G>C (p.Cys286Ser)
n.5798G>C
c.5906G>C (p.Cys1969Ser)
n.5612G>C
c.6215G>C (p.Cys2072Ser)
c.5408G>C (p.Cys1803Ser)
n.357G>C
c.1709G>C (p.Cys570Ser)
c.5795G>C (p.Cys1932Ser)
c.5159G>C (p.Cys1720Ser)
c.1949G>C (p.Cys650Ser)
5g.177288882G>TCA362318170NSD1c.5342G>T (p.Cys1781Phe)
c.857G>T (p.Cys286Phe)
n.5798G>T
c.5906G>T (p.Cys1969Phe)
n.5612G>T
c.6215G>T (p.Cys2072Phe)
c.5408G>T (p.Cys1803Phe)
n.357G>T
c.1709G>T (p.Cys570Phe)
c.5795G>T (p.Cys1932Phe)
c.5159G>T (p.Cys1720Phe)
c.1949G>T (p.Cys650Phe)
5g.177288883T>ACA362318174NSD1c.5343T>A (p.Cys1781Ter)
c.858T>A (p.Cys286Ter)
n.5799T>A
c.5907T>A (p.Cys1969Ter)
n.5613T>A
c.6216T>A (p.Cys2072Ter)
c.5409T>A (p.Cys1803Ter)
n.358T>A
c.1710T>A (p.Cys570Ter)
c.5796T>A (p.Cys1932Ter)
c.5160T>A (p.Cys1720Ter)
c.1950T>A (p.Cys650Ter)
5g.177288883T>CCA447739972NSD1c.5343T>C (p.Cys1781=)
c.858T>C (p.Cys286=)
n.5799T>C
c.5907T>C (p.Cys1969=)
n.5613T>C
c.6216T>C (p.Cys2072=)
c.5409T>C (p.Cys1803=)
n.358T>C
c.1710T>C (p.Cys570=)
c.5796T>C (p.Cys1932=)
c.5160T>C (p.Cys1720=)
c.1950T>C (p.Cys650=)
5g.177288883T>GCA362318177NSD1c.5343T>G (p.Cys1781Trp)
c.858T>G (p.Cys286Trp)
n.5799T>G
c.5907T>G (p.Cys1969Trp)
n.5613T>G
c.6216T>G (p.Cys2072Trp)
c.5409T>G (p.Cys1803Trp)
n.358T>G
c.1710T>G (p.Cys570Trp)
c.5796T>G (p.Cys1932Trp)
c.5160T>G (p.Cys1720Trp)
c.1950T>G (p.Cys650Trp)
 ClinVar
5g.177288883T=CA1603528946NSD1c.5343T= (p.Cys1781=)
c.858T= (p.Cys286=)
n.5799T=
c.5907T= (p.Cys1969=)
n.5613T=
c.6216T= (p.Cys2072=)
c.5409T= (p.Cys1803=)
n.358T=
c.1710T= (p.Cys570=)
c.5796T= (p.Cys1932=)
c.5160T= (p.Cys1720=)
c.1950T= (p.Cys650=)
5g.177288884G>ACA362318180NSD1c.5344G>A (p.Gly1782Arg)
c.859G>A (p.Gly287Arg)
n.5800G>A
c.5908G>A (p.Gly1970Arg)
n.5614G>A
c.6217G>A (p.Gly2073Arg)
c.5410G>A (p.Gly1804Arg)
n.359G>A
c.1711G>A (p.Gly571Arg)
c.5797G>A (p.Gly1933Arg)
c.5161G>A (p.Gly1721Arg)
c.1951G>A (p.Gly651Arg)
5g.177288884G>CCA362318181NSD1c.5344G>C (p.Gly1782Arg)
c.859G>C (p.Gly287Arg)
n.5800G>C
c.5908G>C (p.Gly1970Arg)
n.5614G>C
c.6217G>C (p.Gly2073Arg)
c.5410G>C (p.Gly1804Arg)
n.359G>C
c.1711G>C (p.Gly571Arg)
c.5797G>C (p.Gly1933Arg)
c.5161G>C (p.Gly1721Arg)
c.1951G>C (p.Gly651Arg)
5g.177288884G>TCA362318186NSD1c.5344G>T (p.Gly1782Ter)
c.859G>T (p.Gly287Ter)
n.5800G>T
c.5908G>T (p.Gly1970Ter)
n.5614G>T
c.6217G>T (p.Gly2073Ter)
c.5410G>T (p.Gly1804Ter)
n.359G>T
c.1711G>T (p.Gly571Ter)
c.5797G>T (p.Gly1933Ter)
c.5161G>T (p.Gly1721Ter)
c.1951G>T (p.Gly651Ter)
5g.177288885dupCA319730NSD1c.5345dup (p.Ala1783SerfsTer?)
c.860dup (p.Ala288SerfsTer?)
n.5801dup
c.5909dup (p.Ala1971SerfsTer?)
n.5615dup
c.6218dup (p.Ala2074SerfsTer?)
c.5411dup (p.Ala1805SerfsTer?)
n.360dup
c.1712dup (p.Ala572SerfsTer?)
c.5798dup (p.Ala1934SerfsTer?)
c.5162dup (p.Ala1722SerfsTer?)
c.1952dup (p.Ala652SerfsTer?)
 ClinVar dbSNP
5g.177288885G>ACA362318190NSD1c.5345G>A (p.Gly1782Glu)
c.860G>A (p.Gly287Glu)
n.5801G>A
c.5909G>A (p.Gly1970Glu)
n.5615G>A
c.6218G>A (p.Gly2073Glu)
c.5411G>A (p.Gly1804Glu)
n.360G>A
c.1712G>A (p.Gly571Glu)
c.5798G>A (p.Gly1933Glu)
c.5162G>A (p.Gly1721Glu)
c.1952G>A (p.Gly651Glu)
5g.177288885G>CCA362318193NSD1c.5345G>C (p.Gly1782Ala)
c.860G>C (p.Gly287Ala)
n.5801G>C
c.5909G>C (p.Gly1970Ala)
n.5615G>C
c.6218G>C (p.Gly2073Ala)
c.5411G>C (p.Gly1804Ala)
n.360G>C
c.1712G>C (p.Gly571Ala)
c.5798G>C (p.Gly1933Ala)
c.5162G>C (p.Gly1721Ala)
c.1952G>C (p.Gly651Ala)
5g.177288885G>TCA362318196NSD1c.5345G>T (p.Gly1782Val)
c.860G>T (p.Gly287Val)
n.5801G>T
c.5909G>T (p.Gly1970Val)
n.5615G>T
c.6218G>T (p.Gly2073Val)
c.5411G>T (p.Gly1804Val)
n.360G>T
c.1712G>T (p.Gly571Val)
c.5798G>T (p.Gly1933Val)
c.5162G>T (p.Gly1721Val)
c.1952G>T (p.Gly651Val)
5g.177288886A>CCA447739977NSD1c.5346A>C (p.Gly1782=)
c.861A>C (p.Gly287=)
n.5802A>C
c.5910A>C (p.Gly1970=)
n.5616A>C
c.6219A>C (p.Gly2073=)
c.5412A>C (p.Gly1804=)
n.361A>C
c.1713A>C (p.Gly571=)
c.5799A>C (p.Gly1933=)
c.5163A>C (p.Gly1721=)
c.1953A>C (p.Gly651=)
5g.177288886A>GCA447739979NSD1c.5346A>G (p.Gly1782=)
c.861A>G (p.Gly287=)
n.5802A>G
c.5910A>G (p.Gly1970=)
n.5616A>G
c.6219A>G (p.Gly2073=)
c.5412A>G (p.Gly1804=)
n.361A>G
c.1713A>G (p.Gly571=)
c.5799A>G (p.Gly1933=)
c.5163A>G (p.Gly1721=)
c.1953A>G (p.Gly651=)
5g.177288886A>TCA447739983NSD1c.5346A>T (p.Gly1782=)
c.861A>T (p.Gly287=)
n.5802A>T
c.5910A>T (p.Gly1970=)
n.5616A>T
c.6219A>T (p.Gly2073=)
c.5412A>T (p.Gly1804=)
n.361A>T
c.1713A>T (p.Gly571=)
c.5799A>T (p.Gly1933=)
c.5163A>T (p.Gly1721=)
c.1953A>T (p.Gly651=)
5g.177288887G>ACA362318199NSD1c.5347G>A (p.Ala1783Thr)
c.862G>A (p.Ala288Thr)
n.5803G>A
c.5911G>A (p.Ala1971Thr)
n.5617G>A
c.6220G>A (p.Ala2074Thr)
c.5413G>A (p.Ala1805Thr)
n.362G>A
c.1714G>A (p.Ala572Thr)
c.5800G>A (p.Ala1934Thr)
c.5164G>A (p.Ala1722Thr)
c.1954G>A (p.Ala652Thr)
5g.177288887G>CCA362318202NSD1c.5347G>C (p.Ala1783Pro)
c.862G>C (p.Ala288Pro)
n.5803G>C
c.5911G>C (p.Ala1971Pro)
n.5617G>C
c.6220G>C (p.Ala2074Pro)
c.5413G>C (p.Ala1805Pro)
n.362G>C
c.1714G>C (p.Ala572Pro)
c.5800G>C (p.Ala1934Pro)
c.5164G>C (p.Ala1722Pro)
c.1954G>C (p.Ala652Pro)
5g.177288887G>TCA362318203NSD1c.5347G>T (p.Ala1783Ser)
c.862G>T (p.Ala288Ser)
n.5803G>T
c.5911G>T (p.Ala1971Ser)
n.5617G>T
c.6220G>T (p.Ala2074Ser)
c.5413G>T (p.Ala1805Ser)
n.362G>T
c.1714G>T (p.Ala572Ser)
c.5800G>T (p.Ala1934Ser)
c.5164G>T (p.Ala1722Ser)
c.1954G>T (p.Ala652Ser)
5g.177288888C>ACA362318207NSD1c.5348C>A (p.Ala1783Asp)
c.863C>A (p.Ala288Asp)
n.5804C>A
c.5912C>A (p.Ala1971Asp)
n.5618C>A
c.6221C>A (p.Ala2074Asp)
c.5414C>A (p.Ala1805Asp)
n.363C>A
c.1715C>A (p.Ala572Asp)
c.5801C>A (p.Ala1934Asp)
c.5165C>A (p.Ala1722Asp)
c.1955C>A (p.Ala652Asp)
5g.177288888C>GCA362318216NSD1c.5348C>G (p.Ala1783Gly)
c.863C>G (p.Ala288Gly)
n.5804C>G
c.5912C>G (p.Ala1971Gly)
n.5618C>G
c.6221C>G (p.Ala2074Gly)
c.5414C>G (p.Ala1805Gly)
n.363C>G
c.1715C>G (p.Ala572Gly)
c.5801C>G (p.Ala1934Gly)
c.5165C>G (p.Ala1722Gly)
c.1955C>G (p.Ala652Gly)
5g.177288888C>TCA362318205NSD1c.5348C>T (p.Ala1783Val)
c.863C>T (p.Ala288Val)
n.5804C>T
c.5912C>T (p.Ala1971Val)
n.5618C>T
c.6221C>T (p.Ala2074Val)
c.5414C>T (p.Ala1805Val)
n.363C>T
c.1715C>T (p.Ala572Val)
c.5801C>T (p.Ala1934Val)
c.5165C>T (p.Ala1722Val)
c.1955C>T (p.Ala652Val)
5g.177288889C>ACA447739989NSD1c.5349C>A (p.Ala1783=)
c.864C>A (p.Ala288=)
n.5805C>A
c.5913C>A (p.Ala1971=)
n.5619C>A
c.6222C>A (p.Ala2074=)
c.5415C>A (p.Ala1805=)
n.364C>A
c.1716C>A (p.Ala572=)
c.5802C>A (p.Ala1934=)
c.5166C>A (p.Ala1722=)
c.1956C>A (p.Ala652=)
5g.177288889C>GCA447739990NSD1c.5349C>G (p.Ala1783=)
c.864C>G (p.Ala288=)
n.5805C>G
c.5913C>G (p.Ala1971=)
n.5619C>G
c.6222C>G (p.Ala2074=)
c.5415C>G (p.Ala1805=)
n.364C>G
c.1716C>G (p.Ala572=)
c.5802C>G (p.Ala1934=)
c.5166C>G (p.Ala1722=)
c.1956C>G (p.Ala652=)
5g.177288889C>TCA447739991NSD1c.5349C>T (p.Ala1783=)
c.864C>T (p.Ala288=)
n.5805C>T
c.5913C>T (p.Ala1971=)
n.5619C>T
c.6222C>T (p.Ala2074=)
c.5415C>T (p.Ala1805=)
n.364C>T
c.1716C>T (p.Ala572=)
c.5802C>T (p.Ala1934=)
c.5166C>T (p.Ala1722=)
c.1956C>T (p.Ala652=)
5g.177288890C>ACA362318220NSD1c.5350C>A (p.Pro1784Thr)
c.865C>A (p.Pro289Thr)
n.5806C>A
c.5914C>A (p.Pro1972Thr)
n.5620C>A
c.6223C>A (p.Pro2075Thr)
c.5416C>A (p.Pro1806Thr)
n.365C>A
c.1717C>A (p.Pro573Thr)
c.5803C>A (p.Pro1935Thr)
c.5167C>A (p.Pro1723Thr)
c.1957C>A (p.Pro653Thr)
5g.177288890C>GCA362318223NSD1c.5350C>G (p.Pro1784Ala)
c.865C>G (p.Pro289Ala)
n.5806C>G
c.5914C>G (p.Pro1972Ala)
n.5620C>G
c.6223C>G (p.Pro2075Ala)
c.5416C>G (p.Pro1806Ala)
n.365C>G
c.1717C>G (p.Pro573Ala)
c.5803C>G (p.Pro1935Ala)
c.5167C>G (p.Pro1723Ala)
c.1957C>G (p.Pro653Ala)
5g.177288890C>TCA362318225NSD1c.5350C>T (p.Pro1784Ser)
c.865C>T (p.Pro289Ser)
n.5806C>T
c.5914C>T (p.Pro1972Ser)
n.5620C>T
c.6223C>T (p.Pro2075Ser)
c.5416C>T (p.Pro1806Ser)
n.365C>T
c.1717C>T (p.Pro573Ser)
c.5803C>T (p.Pro1935Ser)
c.5167C>T (p.Pro1723Ser)
c.1957C>T (p.Pro653Ser)
5g.177288891C>ACA362318230NSD1c.5351C>A (p.Pro1784Gln)
c.866C>A (p.Pro289Gln)
n.5807C>A
c.5915C>A (p.Pro1972Gln)
n.5621C>A
c.6224C>A (p.Pro2075Gln)
c.5417C>A (p.Pro1806Gln)
n.366C>A
c.1718C>A (p.Pro573Gln)
c.5804C>A (p.Pro1935Gln)
c.5168C>A (p.Pro1723Gln)
c.1958C>A (p.Pro653Gln)
5g.177288891C=CA1603528954NSD1c.5351C= (p.Pro1784=)
c.866C= (p.Pro289=)
n.5807C=
c.5915C= (p.Pro1972=)
n.5621C=
c.6224C= (p.Pro2075=)
c.5417C= (p.Pro1806=)
n.366C=
c.1718C= (p.Pro573=)
c.5804C= (p.Pro1935=)
c.5168C= (p.Pro1723=)
c.1958C= (p.Pro653=)
5g.177288891C>GCA362318232NSD1c.5351C>G (p.Pro1784Arg)
c.866C>G (p.Pro289Arg)
n.5807C>G
c.5915C>G (p.Pro1972Arg)
n.5621C>G
c.6224C>G (p.Pro2075Arg)
c.5417C>G (p.Pro1806Arg)
n.366C>G
c.1718C>G (p.Pro573Arg)
c.5804C>G (p.Pro1935Arg)
c.5168C>G (p.Pro1723Arg)
c.1958C>G (p.Pro653Arg)
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
5g.177288891C>TCA362318234NSD1c.5351C>T (p.Pro1784Leu)
c.866C>T (p.Pro289Leu)
n.5807C>T
c.5915C>T (p.Pro1972Leu)
n.5621C>T
c.6224C>T (p.Pro2075Leu)
c.5417C>T (p.Pro1806Leu)
n.366C>T
c.1718C>T (p.Pro573Leu)
c.5804C>T (p.Pro1935Leu)
c.5168C>T (p.Pro1723Leu)
c.1958C>T (p.Pro653Leu)
 dbSNP gnomAD v3 gnomAD v4
5g.177288892G>ACA447739993NSD1c.5352G>A (p.Pro1784=)
c.867G>A (p.Pro289=)
n.5808G>A
c.5916G>A (p.Pro1972=)
n.5622G>A
c.6225G>A (p.Pro2075=)
c.5418G>A (p.Pro1806=)
n.367G>A
c.1719G>A (p.Pro573=)
c.5805G>A (p.Pro1935=)
c.5169G>A (p.Pro1723=)
c.1959G>A (p.Pro653=)
 dbSNP gnomAD v4
5g.177288892G>CCA447739994NSD1c.5352G>C (p.Pro1784=)
c.867G>C (p.Pro289=)
n.5808G>C
c.5916G>C (p.Pro1972=)
n.5622G>C
c.6225G>C (p.Pro2075=)
c.5418G>C (p.Pro1806=)
n.367G>C
c.1719G>C (p.Pro573=)
c.5805G>C (p.Pro1935=)
c.5169G>C (p.Pro1723=)
c.1959G>C (p.Pro653=)
5g.177288892G>TCA447739995NSD1c.5352G>T (p.Pro1784=)
c.867G>T (p.Pro289=)
n.5808G>T
c.5916G>T (p.Pro1972=)
n.5622G>T
c.6225G>T (p.Pro2075=)
c.5418G>T (p.Pro1806=)
n.367G>T
c.1719G>T (p.Pro573=)
c.5805G>T (p.Pro1935=)
c.5169G>T (p.Pro1723=)
c.1959G>T (p.Pro653=)
5g.177288893A>CCA362318243NSD1c.5353A>C (p.Asn1785His)
c.868A>C (p.Asn290His)
n.5809A>C
c.5917A>C (p.Asn1973His)
n.5623A>C
c.6226A>C (p.Asn2076His)
c.5419A>C (p.Asn1807His)
n.368A>C
c.1720A>C (p.Asn574His)
c.5806A>C (p.Asn1936His)
c.5170A>C (p.Asn1724His)
c.1960A>C (p.Asn654His)
5g.177288893A>GCA362318239NSD1c.5353A>G (p.Asn1785Asp)
c.868A>G (p.Asn290Asp)
n.5809A>G
c.5917A>G (p.Asn1973Asp)
n.5623A>G
c.6226A>G (p.Asn2076Asp)
c.5419A>G (p.Asn1807Asp)
n.368A>G
c.1720A>G (p.Asn574Asp)
c.5806A>G (p.Asn1936Asp)
c.5170A>G (p.Asn1724Asp)
c.1960A>G (p.Asn654Asp)
5g.177288893A>TCA362318241NSD1c.5353A>T (p.Asn1785Tyr)
c.868A>T (p.Asn290Tyr)
n.5809A>T
c.5917A>T (p.Asn1973Tyr)
n.5623A>T
c.6226A>T (p.Asn2076Tyr)
c.5419A>T (p.Asn1807Tyr)
n.368A>T
c.1720A>T (p.Asn574Tyr)
c.5806A>T (p.Asn1936Tyr)
c.5170A>T (p.Asn1724Tyr)
c.1960A>T (p.Asn654Tyr)
5g.177288894A>CCA362318247NSD1c.5354A>C (p.Asn1785Thr)
c.869A>C (p.Asn290Thr)
n.5810A>C
c.5918A>C (p.Asn1973Thr)
n.5624A>C
c.6227A>C (p.Asn2076Thr)
c.5420A>C (p.Asn1807Thr)
n.369A>C
c.1721A>C (p.Asn574Thr)
c.5807A>C (p.Asn1936Thr)
c.5171A>C (p.Asn1724Thr)
c.1961A>C (p.Asn654Thr)
5g.177288894A>GCA362318250NSD1c.5354A>G (p.Asn1785Ser)
c.869A>G (p.Asn290Ser)
n.5810A>G
c.5918A>G (p.Asn1973Ser)
n.5624A>G
c.6227A>G (p.Asn2076Ser)
c.5420A>G (p.Asn1807Ser)
n.369A>G
c.1721A>G (p.Asn574Ser)
c.5807A>G (p.Asn1936Ser)
c.5171A>G (p.Asn1724Ser)
c.1961A>G (p.Asn654Ser)
5g.177288894A>TCA362318254NSD1c.5354A>T (p.Asn1785Ile)
c.869A>T (p.Asn290Ile)
n.5810A>T
c.5918A>T (p.Asn1973Ile)
n.5624A>T
c.6227A>T (p.Asn2076Ile)
c.5420A>T (p.Asn1807Ile)
n.369A>T
c.1721A>T (p.Asn574Ile)
c.5807A>T (p.Asn1936Ile)
c.5171A>T (p.Asn1724Ile)
c.1961A>T (p.Asn654Ile)
5g.177288895C>ACA362318257NSD1c.5355C>A (p.Asn1785Lys)
c.870C>A (p.Asn290Lys)
n.5811C>A
c.5919C>A (p.Asn1973Lys)
n.5625C>A
c.6228C>A (p.Asn2076Lys)
c.5421C>A (p.Asn1807Lys)
n.370C>A
c.1722C>A (p.Asn574Lys)
c.5808C>A (p.Asn1936Lys)
c.5172C>A (p.Asn1724Lys)
c.1962C>A (p.Asn654Lys)
5g.177288895C>GCA362318259NSD1c.5355C>G (p.Asn1785Lys)
c.870C>G (p.Asn290Lys)
n.5811C>G
c.5919C>G (p.Asn1973Lys)
n.5625C>G
c.6228C>G (p.Asn2076Lys)
c.5421C>G (p.Asn1807Lys)
n.370C>G
c.1722C>G (p.Asn574Lys)
c.5808C>G (p.Asn1936Lys)
c.5172C>G (p.Asn1724Lys)
c.1962C>G (p.Asn654Lys)
5g.177288895C>TCA447740000NSD1c.5355C>T (p.Asn1785=)
c.870C>T (p.Asn290=)
n.5811C>T
c.5919C>T (p.Asn1973=)
n.5625C>T
c.6228C>T (p.Asn2076=)
c.5421C>T (p.Asn1807=)
n.370C>T
c.1722C>T (p.Asn574=)
c.5808C>T (p.Asn1936=)
c.5172C>T (p.Asn1724=)
c.1962C>T (p.Asn654=)
5g.177288896T>ACA362318268NSD1c.5356T>A (p.Cys1786Ser)
c.871T>A (p.Cys291Ser)
n.5812T>A
c.5920T>A (p.Cys1974Ser)
n.5626T>A
c.6229T>A (p.Cys2077Ser)
c.5422T>A (p.Cys1808Ser)
n.371T>A
c.1723T>A (p.Cys575Ser)
c.5809T>A (p.Cys1937Ser)
c.5173T>A (p.Cys1725Ser)
c.1963T>A (p.Cys655Ser)
5g.177288896T>CCA362318263NSD1c.5356T>C (p.Cys1786Arg)
c.871T>C (p.Cys291Arg)
n.5812T>C
c.5920T>C (p.Cys1974Arg)
n.5626T>C
c.6229T>C (p.Cys2077Arg)
c.5422T>C (p.Cys1808Arg)
n.371T>C
c.1723T>C (p.Cys575Arg)
c.5809T>C (p.Cys1937Arg)
c.5173T>C (p.Cys1725Arg)
c.1963T>C (p.Cys655Arg)
5g.177288896T>GCA362318267NSD1c.5356T>G (p.Cys1786Gly)
c.871T>G (p.Cys291Gly)
n.5812T>G
c.5920T>G (p.Cys1974Gly)
n.5626T>G
c.6229T>G (p.Cys2077Gly)
c.5422T>G (p.Cys1808Gly)
n.371T>G
c.1723T>G (p.Cys575Gly)
c.5809T>G (p.Cys1937Gly)
c.5173T>G (p.Cys1725Gly)
c.1963T>G (p.Cys655Gly)
5g.177288897G>ACA362318272NSD1c.5357G>A (p.Cys1786Tyr)
c.872G>A (p.Cys291Tyr)
n.5813G>A
c.5921G>A (p.Cys1974Tyr)
n.5627G>A
c.6230G>A (p.Cys2077Tyr)
c.5423G>A (p.Cys1808Tyr)
n.372G>A
c.1724G>A (p.Cys575Tyr)
c.5810G>A (p.Cys1937Tyr)
c.5174G>A (p.Cys1725Tyr)
c.1964G>A (p.Cys655Tyr)
 dbSNP
5g.177288897G>CCA362318273NSD1c.5357G>C (p.Cys1786Ser)
c.872G>C (p.Cys291Ser)
n.5813G>C
c.5921G>C (p.Cys1974Ser)
n.5627G>C
c.6230G>C (p.Cys2077Ser)
c.5423G>C (p.Cys1808Ser)
n.372G>C
c.1724G>C (p.Cys575Ser)
c.5810G>C (p.Cys1937Ser)
c.5174G>C (p.Cys1725Ser)
c.1964G>C (p.Cys655Ser)
5g.177288897G>TCA362318274NSD1c.5357G>T (p.Cys1786Phe)
c.872G>T (p.Cys291Phe)
n.5813G>T
c.5921G>T (p.Cys1974Phe)
n.5627G>T
c.6230G>T (p.Cys2077Phe)
c.5423G>T (p.Cys1808Phe)
n.372G>T
c.1724G>T (p.Cys575Phe)
c.5810G>T (p.Cys1937Phe)
c.5174G>T (p.Cys1725Phe)
c.1964G>T (p.Cys655Phe)
5g.177288897_177288899delinsTCA2573332647NSD1c.5357_5359delinsT (p.Cys1786LeufsTer?)
c.872_874delinsT (p.Cys291LeufsTer?)
n.5813_5815delinsT
c.5921_5923delinsT (p.Cys1974LeufsTer?)
n.5627_5629delinsT
c.6230_6232delinsT (p.Cys2077LeufsTer?)
c.5423_5425delinsT (p.Cys1808LeufsTer?)
n.372_374delinsT
c.1724_1726delinsT (p.Cys575LeufsTer?)
c.5810_5812delinsT (p.Cys1937LeufsTer?)
c.5174_5176delinsT (p.Cys1725LeufsTer?)
c.1964_1966delinsT (p.Cys655LeufsTer?)
5g.177288898C>ACA362318275NSD1c.5358C>A (p.Cys1786Ter)
c.873C>A (p.Cys291Ter)
n.5814C>A
c.5922C>A (p.Cys1974Ter)
n.5628C>A
c.6231C>A (p.Cys2077Ter)
c.5424C>A (p.Cys1808Ter)
n.373C>A
c.1725C>A (p.Cys575Ter)
c.5811C>A (p.Cys1937Ter)
c.5175C>A (p.Cys1725Ter)
c.1965C>A (p.Cys655Ter)
5g.177288898C>GCA362318276NSD1c.5358C>G (p.Cys1786Trp)
c.873C>G (p.Cys291Trp)
n.5814C>G
c.5922C>G (p.Cys1974Trp)
n.5628C>G
c.6231C>G (p.Cys2077Trp)
c.5424C>G (p.Cys1808Trp)
n.373C>G
c.1725C>G (p.Cys575Trp)
c.5811C>G (p.Cys1937Trp)
c.5175C>G (p.Cys1725Trp)
c.1965C>G (p.Cys655Trp)
5g.177288898C>TCA447740004NSD1c.5358C>T (p.Cys1786=)
c.873C>T (p.Cys291=)
n.5814C>T
c.5922C>T (p.Cys1974=)
n.5628C>T
c.6231C>T (p.Cys2077=)
c.5424C>T (p.Cys1808=)
n.373C>T
c.1725C>T (p.Cys575=)
c.5811C>T (p.Cys1937=)
c.5175C>T (p.Cys1725=)
c.1965C>T (p.Cys655=)
5g.177288899A>CCA362318279NSD1c.5359A>C (p.Ser1787Arg)
c.874A>C (p.Ser292Arg)
n.5815A>C
c.5923A>C (p.Ser1975Arg)
n.5629A>C
c.6232A>C (p.Ser2078Arg)
c.5425A>C (p.Ser1809Arg)
n.374A>C
c.1726A>C (p.Ser576Arg)
c.5812A>C (p.Ser1938Arg)
c.5176A>C (p.Ser1726Arg)
c.1966A>C (p.Ser656Arg)
5g.177288899A>GCA362318282NSD1c.5359A>G (p.Ser1787Gly)
c.874A>G (p.Ser292Gly)
n.5815A>G
c.5923A>G (p.Ser1975Gly)
n.5629A>G
c.6232A>G (p.Ser2078Gly)
c.5425A>G (p.Ser1809Gly)
n.374A>G
c.1726A>G (p.Ser576Gly)
c.5812A>G (p.Ser1938Gly)
c.5176A>G (p.Ser1726Gly)
c.1966A>G (p.Ser656Gly)
5g.177288899A>TCA362318285NSD1c.5359A>T (p.Ser1787Cys)
c.874A>T (p.Ser292Cys)
n.5815A>T
c.5923A>T (p.Ser1975Cys)
n.5629A>T
c.6232A>T (p.Ser2078Cys)
c.5425A>T (p.Ser1809Cys)
n.374A>T
c.1726A>T (p.Ser576Cys)
c.5812A>T (p.Ser1938Cys)
c.5176A>T (p.Ser1726Cys)
c.1966A>T (p.Ser656Cys)
5g.177288900G>ACA362318289NSD1c.5360G>A (p.Ser1787Asn)
c.875G>A (p.Ser292Asn)
n.5816G>A
c.5924G>A (p.Ser1975Asn)
n.5630G>A
c.6233G>A (p.Ser2078Asn)
c.5426G>A (p.Ser1809Asn)
n.375G>A
c.1727G>A (p.Ser576Asn)
c.5813G>A (p.Ser1938Asn)
c.5177G>A (p.Ser1726Asn)
c.1967G>A (p.Ser656Asn)
5g.177288900G>CCA362318291NSD1c.5360G>C (p.Ser1787Thr)
c.875G>C (p.Ser292Thr)
n.5816G>C
c.5924G>C (p.Ser1975Thr)
n.5630G>C
c.6233G>C (p.Ser2078Thr)
c.5426G>C (p.Ser1809Thr)
n.375G>C
c.1727G>C (p.Ser576Thr)
c.5813G>C (p.Ser1938Thr)
c.5177G>C (p.Ser1726Thr)
c.1967G>C (p.Ser656Thr)
5g.177288900G>TCA362318294NSD1c.5360G>T (p.Ser1787Ile)
c.875G>T (p.Ser292Ile)
n.5816G>T
c.5924G>T (p.Ser1975Ile)
n.5630G>T
c.6233G>T (p.Ser2078Ile)
c.5426G>T (p.Ser1809Ile)
n.375G>T
c.1727G>T (p.Ser576Ile)
c.5813G>T (p.Ser1938Ile)
c.5177G>T (p.Ser1726Ile)
c.1967G>T (p.Ser656Ile)
5g.177288901T>ACA362318298NSD1c.5361T>A (p.Ser1787Arg)
c.876T>A (p.Ser292Arg)
n.5817T>A
c.5925T>A (p.Ser1975Arg)
n.5631T>A
c.6234T>A (p.Ser2078Arg)
c.5427T>A (p.Ser1809Arg)
n.376T>A
c.1728T>A (p.Ser576Arg)
c.5814T>A (p.Ser1938Arg)
c.5178T>A (p.Ser1726Arg)
c.1968T>A (p.Ser656Arg)
5g.177288901T>CCA447740011NSD1c.5361T>C (p.Ser1787=)
c.876T>C (p.Ser292=)
n.5817T>C
c.5925T>C (p.Ser1975=)
n.5631T>C
c.6234T>C (p.Ser2078=)
c.5427T>C (p.Ser1809=)
n.376T>C
c.1728T>C (p.Ser576=)
c.5814T>C (p.Ser1938=)
c.5178T>C (p.Ser1726=)
c.1968T>C (p.Ser656=)
5g.177288901T>GCA362318301NSD1c.5361T>G (p.Ser1787Arg)
c.876T>G (p.Ser292Arg)
n.5817T>G
c.5925T>G (p.Ser1975Arg)
n.5631T>G
c.6234T>G (p.Ser2078Arg)
c.5427T>G (p.Ser1809Arg)
n.376T>G
c.1728T>G (p.Ser576Arg)
c.5814T>G (p.Ser1938Arg)
c.5178T>G (p.Ser1726Arg)
c.1968T>G (p.Ser656Arg)
5g.177288902G>ACA362318306NSD1c.5362G>A (p.Gly1788Ser)
c.877G>A (p.Gly293Ser)
n.5818G>A
c.5926G>A (p.Gly1976Ser)
n.5632G>A
c.6235G>A (p.Gly2079Ser)
c.5428G>A (p.Gly1810Ser)
n.377G>A
c.1729G>A (p.Gly577Ser)
c.5815G>A (p.Gly1939Ser)
c.5179G>A (p.Gly1727Ser)
c.1969G>A (p.Gly657Ser)
5g.177288902G>CCA362318314NSD1c.5362G>C (p.Gly1788Arg)
c.877G>C (p.Gly293Arg)
n.5818G>C
c.5926G>C (p.Gly1976Arg)
n.5632G>C
c.6235G>C (p.Gly2079Arg)
c.5428G>C (p.Gly1810Arg)
n.377G>C
c.1729G>C (p.Gly577Arg)
c.5815G>C (p.Gly1939Arg)
c.5179G>C (p.Gly1727Arg)
c.1969G>C (p.Gly657Arg)
5g.177288902G>TCA362318309NSD1c.5362G>T (p.Gly1788Cys)
c.877G>T (p.Gly293Cys)
n.5818G>T
c.5926G>T (p.Gly1976Cys)
n.5632G>T
c.6235G>T (p.Gly2079Cys)
c.5428G>T (p.Gly1810Cys)
n.377G>T
c.1729G>T (p.Gly577Cys)
c.5815G>T (p.Gly1939Cys)
c.5179G>T (p.Gly1727Cys)
c.1969G>T (p.Gly657Cys)
5g.177288903G>ACA362318316NSD1c.5363G>A (p.Gly1788Asp)
c.878G>A (p.Gly293Asp)
n.5819G>A
c.5927G>A (p.Gly1976Asp)
n.5633G>A
c.6236G>A (p.Gly2079Asp)
c.5429G>A (p.Gly1810Asp)
n.378G>A
c.1730G>A (p.Gly577Asp)
c.5816G>A (p.Gly1939Asp)
c.5180G>A (p.Gly1727Asp)
c.1970G>A (p.Gly657Asp)
5g.177288903G>CCA362318319NSD1c.5363G>C (p.Gly1788Ala)
c.878G>C (p.Gly293Ala)
n.5819G>C
c.5927G>C (p.Gly1976Ala)
n.5633G>C
c.6236G>C (p.Gly2079Ala)
c.5429G>C (p.Gly1810Ala)
n.378G>C
c.1730G>C (p.Gly577Ala)
c.5816G>C (p.Gly1939Ala)
c.5180G>C (p.Gly1727Ala)
c.1970G>C (p.Gly657Ala)
5g.177288903G>TCA362318322NSD1c.5363G>T (p.Gly1788Val)
c.878G>T (p.Gly293Val)
n.5819G>T
c.5927G>T (p.Gly1976Val)
n.5633G>T
c.6236G>T (p.Gly2079Val)
c.5429G>T (p.Gly1810Val)
n.378G>T
c.1730G>T (p.Gly577Val)
c.5816G>T (p.Gly1939Val)
c.5180G>T (p.Gly1727Val)
c.1970G>T (p.Gly657Val)
5g.177288904C>ACA447740014NSD1c.5364C>A (p.Gly1788=)
c.879C>A (p.Gly293=)
n.5820C>A
c.5928C>A (p.Gly1976=)
n.5634C>A
c.6237C>A (p.Gly2079=)
c.5430C>A (p.Gly1810=)
n.379C>A
c.1731C>A (p.Gly577=)
c.5817C>A (p.Gly1939=)
c.5181C>A (p.Gly1727=)
c.1971C>A (p.Gly657=)
5g.177288904C>GCA447740015NSD1c.5364C>G (p.Gly1788=)
c.879C>G (p.Gly293=)
n.5820C>G
c.5928C>G (p.Gly1976=)
n.5634C>G
c.6237C>G (p.Gly2079=)
c.5430C>G (p.Gly1810=)
n.379C>G
c.1731C>G (p.Gly577=)
c.5817C>G (p.Gly1939=)
c.5181C>G (p.Gly1727=)
c.1971C>G (p.Gly657=)
5g.177288904C>TCA447740016NSD1c.5364C>T (p.Gly1788=)
c.879C>T (p.Gly293=)
n.5820C>T
c.5928C>T (p.Gly1976=)
n.5634C>T
c.6237C>T (p.Gly2079=)
c.5430C>T (p.Gly1810=)
n.379C>T
c.1731C>T (p.Gly577=)
c.5817C>T (p.Gly1939=)
c.5181C>T (p.Gly1727=)
c.1971C>T (p.Gly657=)
5g.177288905T>ACA362318325NSD1c.5365T>A (p.Phe1789Ile)
c.880T>A (p.Phe294Ile)
n.5821T>A
c.5929T>A (p.Phe1977Ile)
n.5635T>A
c.6238T>A (p.Phe2080Ile)
c.5431T>A (p.Phe1811Ile)
n.380T>A
c.1732T>A (p.Phe578Ile)
c.5818T>A (p.Phe1940Ile)
c.5182T>A (p.Phe1728Ile)
c.1972T>A (p.Phe658Ile)
5g.177288905T>CCA362318327NSD1c.5365T>C (p.Phe1789Leu)
c.880T>C (p.Phe294Leu)
n.5821T>C
c.5929T>C (p.Phe1977Leu)
n.5635T>C
c.6238T>C (p.Phe2080Leu)
c.5431T>C (p.Phe1811Leu)
n.380T>C
c.1732T>C (p.Phe578Leu)
c.5818T>C (p.Phe1940Leu)
c.5182T>C (p.Phe1728Leu)
c.1972T>C (p.Phe658Leu)
5g.177288905T>GCA362318330NSD1c.5365T>G (p.Phe1789Val)
c.880T>G (p.Phe294Val)
n.5821T>G
c.5929T>G (p.Phe1977Val)
n.5635T>G
c.6238T>G (p.Phe2080Val)
c.5431T>G (p.Phe1811Val)
n.380T>G
c.1732T>G (p.Phe578Val)
c.5818T>G (p.Phe1940Val)
c.5182T>G (p.Phe1728Val)
c.1972T>G (p.Phe658Val)
5g.177288906T>ACA362318335NSD1c.5366T>A (p.Phe1789Tyr)
c.881T>A (p.Phe294Tyr)
n.5822T>A
c.5930T>A (p.Phe1977Tyr)
n.5636T>A
c.6239T>A (p.Phe2080Tyr)
c.5432T>A (p.Phe1811Tyr)
n.381T>A
c.1733T>A (p.Phe578Tyr)
c.5819T>A (p.Phe1940Tyr)
c.5183T>A (p.Phe1728Tyr)
c.1973T>A (p.Phe658Tyr)
5g.177288906T>CCA362318338NSD1c.5366T>C (p.Phe1789Ser)
c.881T>C (p.Phe294Ser)
n.5822T>C
c.5930T>C (p.Phe1977Ser)
n.5636T>C
c.6239T>C (p.Phe2080Ser)
c.5432T>C (p.Phe1811Ser)
n.381T>C
c.1733T>C (p.Phe578Ser)
c.5819T>C (p.Phe1940Ser)
c.5183T>C (p.Phe1728Ser)
c.1973T>C (p.Phe658Ser)
5g.177288906T>GCA362318342NSD1c.5366T>G (p.Phe1789Cys)
c.881T>G (p.Phe294Cys)
n.5822T>G
c.5930T>G (p.Phe1977Cys)
n.5636T>G
c.6239T>G (p.Phe2080Cys)
c.5432T>G (p.Phe1811Cys)
n.381T>G
c.1733T>G (p.Phe578Cys)
c.5819T>G (p.Phe1940Cys)
c.5183T>G (p.Phe1728Cys)
c.1973T>G (p.Phe658Cys)
5g.177288907C>ACA362318347NSD1c.5367C>A (p.Phe1789Leu)
c.882C>A (p.Phe294Leu)
n.5823C>A
c.5931C>A (p.Phe1977Leu)
n.5637C>A
c.6240C>A (p.Phe2080Leu)
c.5433C>A (p.Phe1811Leu)
n.382C>A
c.1734C>A (p.Phe578Leu)
c.5820C>A (p.Phe1940Leu)
c.5184C>A (p.Phe1728Leu)
c.1974C>A (p.Phe658Leu)
 dbSNP
5g.177288907C=CA1603528956NSD1c.5367C= (p.Phe1789=)
c.882C= (p.Phe294=)
n.5823C=
c.5931C= (p.Phe1977=)
n.5637C=
c.6240C= (p.Phe2080=)
c.5433C= (p.Phe1811=)
n.382C=
c.1734C= (p.Phe578=)
c.5820C= (p.Phe1940=)
c.5184C= (p.Phe1728=)
c.1974C= (p.Phe658=)
5g.177288907C>GCA362318350NSD1c.5367C>G (p.Phe1789Leu)
c.882C>G (p.Phe294Leu)
n.5823C>G
c.5931C>G (p.Phe1977Leu)
n.5637C>G
c.6240C>G (p.Phe2080Leu)
c.5433C>G (p.Phe1811Leu)
n.382C>G
c.1734C>G (p.Phe578Leu)
c.5820C>G (p.Phe1940Leu)
c.5184C>G (p.Phe1728Leu)
c.1974C>G (p.Phe658Leu)
 dbSNP
5g.177288907C>TCA447740019NSD1c.5367C>T (p.Phe1789=)
c.882C>T (p.Phe294=)
n.5823C>T
c.5931C>T (p.Phe1977=)
n.5637C>T
c.6240C>T (p.Phe2080=)
c.5433C>T (p.Phe1811=)
n.382C>T
c.1734C>T (p.Phe578=)
c.5820C>T (p.Phe1940=)
c.5184C>T (p.Phe1728=)
c.1974C>T (p.Phe658=)
 dbSNP
5g.177288908T>ACA362318353NSD1c.5368T>A (p.Leu1790Met)
c.883T>A (p.Leu295Met)
n.5824T>A
c.5932T>A (p.Leu1978Met)
n.5638T>A
c.6241T>A (p.Leu2081Met)
c.5434T>A (p.Leu1812Met)
n.383T>A
c.1735T>A (p.Leu579Met)
c.5821T>A (p.Leu1941Met)
c.5185T>A (p.Leu1729Met)
c.1975T>A (p.Leu659Met)
5g.177288908T>CCA447740022NSD1c.5368T>C (p.Leu1790=)
c.883T>C (p.Leu295=)
n.5824T>C
c.5932T>C (p.Leu1978=)
n.5638T>C
c.6241T>C (p.Leu2081=)
c.5434T>C (p.Leu1812=)
n.383T>C
c.1735T>C (p.Leu579=)
c.5821T>C (p.Leu1941=)
c.5185T>C (p.Leu1729=)
c.1975T>C (p.Leu659=)
 dbSNP
5g.177288908T>GCA362318357NSD1c.5368T>G (p.Leu1790Val)
c.883T>G (p.Leu295Val)
n.5824T>G
c.5932T>G (p.Leu1978Val)
n.5638T>G
c.6241T>G (p.Leu2081Val)
c.5434T>G (p.Leu1812Val)
n.383T>G
c.1735T>G (p.Leu579Val)
c.5821T>G (p.Leu1941Val)
c.5185T>G (p.Leu1729Val)
c.1975T>G (p.Leu659Val)
5g.177288908T=CA1603528959NSD1c.5368T= (p.Leu1790=)
c.883T= (p.Leu295=)
n.5824T=
c.5932T= (p.Leu1978=)
n.5638T=
c.6241T= (p.Leu2081=)
c.5434T= (p.Leu1812=)
n.383T=
c.1735T= (p.Leu579=)
c.5821T= (p.Leu1941=)
c.5185T= (p.Leu1729=)
c.1975T= (p.Leu659=)
5g.177288909dupCA2695205733NSD1c.5369dup (p.Leu1790PhefsTer?)
c.884dup (p.Leu295PhefsTer?)
n.5825dup
c.5933dup (p.Leu1978PhefsTer?)
n.5639dup
c.6242dup (p.Leu2081PhefsTer?)
c.5435dup (p.Leu1812PhefsTer?)
n.384dup
c.1736dup (p.Leu579PhefsTer?)
c.5822dup (p.Leu1941PhefsTer?)
c.5186dup (p.Leu1729PhefsTer?)
c.1976dup (p.Leu659PhefsTer?)
5g.177288909T>ACA362318366NSD1c.5369T>A (p.Leu1790Ter)
c.884T>A (p.Leu295Ter)
n.5825T>A
c.5933T>A (p.Leu1978Ter)
n.5639T>A
c.6242T>A (p.Leu2081Ter)
c.5435T>A (p.Leu1812Ter)
n.384T>A
c.1736T>A (p.Leu579Ter)
c.5822T>A (p.Leu1941Ter)
c.5186T>A (p.Leu1729Ter)
c.1976T>A (p.Leu659Ter)
5g.177288909T>CCA362318362NSD1c.5369T>C (p.Leu1790Ser)
c.884T>C (p.Leu295Ser)
n.5825T>C
c.5933T>C (p.Leu1978Ser)
n.5639T>C
c.6242T>C (p.Leu2081Ser)
c.5435T>C (p.Leu1812Ser)
n.384T>C
c.1736T>C (p.Leu579Ser)
c.5822T>C (p.Leu1941Ser)
c.5186T>C (p.Leu1729Ser)
c.1976T>C (p.Leu659Ser)
5g.177288909T>GCA362318365NSD1c.5369T>G (p.Leu1790Trp)
c.884T>G (p.Leu295Trp)
n.5825T>G
c.5933T>G (p.Leu1978Trp)
n.5639T>G
c.6242T>G (p.Leu2081Trp)
c.5435T>G (p.Leu1812Trp)
n.384T>G
c.1736T>G (p.Leu579Trp)
c.5822T>G (p.Leu1941Trp)
c.5186T>G (p.Leu1729Trp)
c.1976T>G (p.Leu659Trp)
5g.177288910G>ACA447740025NSD1c.5370G>A (p.Leu1790=)
c.885G>A (p.Leu295=)
n.5826G>A
c.5934G>A (p.Leu1978=)
n.5640G>A
c.6243G>A (p.Leu2081=)
c.5436G>A (p.Leu1812=)
n.385G>A
c.1737G>A (p.Leu579=)
c.5823G>A (p.Leu1941=)
c.5187G>A (p.Leu1729=)
c.1977G>A (p.Leu659=)
5g.177288910G>CCA362318373NSD1c.5370G>C (p.Leu1790Phe)
c.885G>C (p.Leu295Phe)
n.5826G>C
c.5934G>C (p.Leu1978Phe)
n.5640G>C
c.6243G>C (p.Leu2081Phe)
c.5436G>C (p.Leu1812Phe)
n.385G>C
c.1737G>C (p.Leu579Phe)
c.5823G>C (p.Leu1941Phe)
c.5187G>C (p.Leu1729Phe)
c.1977G>C (p.Leu659Phe)
5g.177288910G>TCA362318376NSD1c.5370G>T (p.Leu1790Phe)
c.885G>T (p.Leu295Phe)
n.5826G>T
c.5934G>T (p.Leu1978Phe)
n.5640G>T
c.6243G>T (p.Leu2081Phe)
c.5436G>T (p.Leu1812Phe)
n.385G>T
c.1737G>T (p.Leu579Phe)
c.5823G>T (p.Leu1941Phe)
c.5187G>T (p.Leu1729Phe)
c.1977G>T (p.Leu659Phe)
5g.177288911G>ACA362318380NSD1c.5371G>A (p.Gly1791Ser)
c.886G>A (p.Gly296Ser)
n.5827G>A
c.5935G>A (p.Gly1979Ser)
n.5641G>A
c.6244G>A (p.Gly2082Ser)
c.5437G>A (p.Gly1813Ser)
n.386G>A
c.1738G>A (p.Gly580Ser)
c.5824G>A (p.Gly1942Ser)
c.5188G>A (p.Gly1730Ser)
c.1978G>A (p.Gly660Ser)
5g.177288911G>CCA362318382NSD1c.5371G>C (p.Gly1791Arg)
c.886G>C (p.Gly296Arg)
n.5827G>C
c.5935G>C (p.Gly1979Arg)
n.5641G>C
c.6244G>C (p.Gly2082Arg)
c.5437G>C (p.Gly1813Arg)
n.386G>C
c.1738G>C (p.Gly580Arg)
c.5824G>C (p.Gly1942Arg)
c.5188G>C (p.Gly1730Arg)
c.1978G>C (p.Gly660Arg)
5g.177288911G>TCA362318385NSD1c.5371G>T (p.Gly1791Cys)
c.886G>T (p.Gly296Cys)
n.5827G>T
c.5935G>T (p.Gly1979Cys)
n.5641G>T
c.6244G>T (p.Gly2082Cys)
c.5437G>T (p.Gly1813Cys)
n.386G>T
c.1738G>T (p.Gly580Cys)
c.5824G>T (p.Gly1942Cys)
c.5188G>T (p.Gly1730Cys)
c.1978G>T (p.Gly660Cys)
5g.177288912G>ACA362318387NSD1c.5372G>A (p.Gly1791Asp)
c.887G>A (p.Gly296Asp)
n.5828G>A
c.5936G>A (p.Gly1979Asp)
n.5642G>A
c.6245G>A (p.Gly2082Asp)
c.5438G>A (p.Gly1813Asp)
n.387G>A
c.1739G>A (p.Gly580Asp)
c.5825G>A (p.Gly1942Asp)
c.5189G>A (p.Gly1730Asp)
c.1979G>A (p.Gly660Asp)
5g.177288912G>CCA362318390NSD1c.5372G>C (p.Gly1791Ala)
c.887G>C (p.Gly296Ala)
n.5828G>C
c.5936G>C (p.Gly1979Ala)
n.5642G>C
c.6245G>C (p.Gly2082Ala)
c.5438G>C (p.Gly1813Ala)
n.387G>C
c.1739G>C (p.Gly580Ala)
c.5825G>C (p.Gly1942Ala)
c.5189G>C (p.Gly1730Ala)
c.1979G>C (p.Gly660Ala)
5g.177288912G>TCA362318393NSD1c.5372G>T (p.Gly1791Val)
c.887G>T (p.Gly296Val)
n.5828G>T
c.5936G>T (p.Gly1979Val)
n.5642G>T
c.6245G>T (p.Gly2082Val)
c.5438G>T (p.Gly1813Val)
n.387G>T
c.1739G>T (p.Gly580Val)
c.5825G>T (p.Gly1942Val)
c.5189G>T (p.Gly1730Val)
c.1979G>T (p.Gly660Val)
5g.177288913T>ACA447740030NSD1c.5373T>A (p.Gly1791=)
c.888T>A (p.Gly296=)
n.5829T>A
c.5937T>A (p.Gly1979=)
n.5643T>A
c.6246T>A (p.Gly2082=)
c.5439T>A (p.Gly1813=)
n.388T>A
c.1740T>A (p.Gly580=)
c.5826T>A (p.Gly1942=)
c.5190T>A (p.Gly1730=)
c.1980T>A (p.Gly660=)
5g.177288913T>CCA447740031NSD1c.5373T>C (p.Gly1791=)
c.888T>C (p.Gly296=)
n.5829T>C
c.5937T>C (p.Gly1979=)
n.5643T>C
c.6246T>C (p.Gly2082=)
c.5439T>C (p.Gly1813=)
n.388T>C
c.1740T>C (p.Gly580=)
c.5826T>C (p.Gly1942=)
c.5190T>C (p.Gly1730=)
c.1980T>C (p.Gly660=)
5g.177288913T>GCA447740032NSD1c.5373T>G (p.Gly1791=)
c.888T>G (p.Gly296=)
n.5829T>G
c.5937T>G (p.Gly1979=)
n.5643T>G
c.6246T>G (p.Gly2082=)
c.5439T>G (p.Gly1813=)
n.388T>G
c.1740T>G (p.Gly580=)
c.5826T>G (p.Gly1942=)
c.5190T>G (p.Gly1730=)
c.1980T>G (p.Gly660=)
 dbSNP
5g.177288913T=CA1603528962NSD1c.5373T= (p.Gly1791=)
c.888T= (p.Gly296=)
n.5829T=
c.5937T= (p.Gly1979=)
n.5643T=
c.6246T= (p.Gly2082=)
c.5439T= (p.Gly1813=)
n.388T=
c.1740T= (p.Gly580=)
c.5826T= (p.Gly1942=)
c.5190T= (p.Gly1730=)
c.1980T= (p.Gly660=)
5g.177288914G>ACA362318399NSD1c.5374G>A (p.Val1792Ile)
c.889G>A (p.Val297Ile)
n.5830G>A
c.5938G>A (p.Val1980Ile)
n.5644G>A
c.6247G>A (p.Val2083Ile)
c.5440G>A (p.Val1814Ile)
n.389G>A
c.1741G>A (p.Val581Ile)
c.5827G>A (p.Val1943Ile)
c.5191G>A (p.Val1731Ile)
c.1981G>A (p.Val661Ile)
 dbSNP
5g.177288914G>CCA362318403NSD1c.5374G>C (p.Val1792Leu)
c.889G>C (p.Val297Leu)
n.5830G>C
c.5938G>C (p.Val1980Leu)
n.5644G>C
c.6247G>C (p.Val2083Leu)
c.5440G>C (p.Val1814Leu)
n.389G>C
c.1741G>C (p.Val581Leu)
c.5827G>C (p.Val1943Leu)
c.5191G>C (p.Val1731Leu)
c.1981G>C (p.Val661Leu)
5g.177288914G>TCA362318407NSD1c.5374G>T (p.Val1792Leu)
c.889G>T (p.Val297Leu)
n.5830G>T
c.5938G>T (p.Val1980Leu)
n.5644G>T
c.6247G>T (p.Val2083Leu)
c.5440G>T (p.Val1814Leu)
n.389G>T
c.1741G>T (p.Val581Leu)
c.5827G>T (p.Val1943Leu)
c.5191G>T (p.Val1731Leu)
c.1981G>T (p.Val661Leu)
5g.177288915T>ACA362318412NSD1c.5375T>A (p.Val1792Glu)
c.890T>A (p.Val297Glu)
n.5831T>A
c.5939T>A (p.Val1980Glu)
n.5645T>A
c.6248T>A (p.Val2083Glu)
c.5441T>A (p.Val1814Glu)
n.390T>A
c.1742T>A (p.Val581Glu)
c.5828T>A (p.Val1943Glu)
c.5192T>A (p.Val1731Glu)
c.1982T>A (p.Val661Glu)
5g.177288915T>CCA362318419NSD1c.5375T>C (p.Val1792Ala)
c.890T>C (p.Val297Ala)
n.5831T>C
c.5939T>C (p.Val1980Ala)
n.5645T>C
c.6248T>C (p.Val2083Ala)
c.5441T>C (p.Val1814Ala)
n.390T>C
c.1742T>C (p.Val581Ala)
c.5828T>C (p.Val1943Ala)
c.5192T>C (p.Val1731Ala)
c.1982T>C (p.Val661Ala)
5g.177288915T>GCA362318415NSD1c.5375T>G (p.Val1792Gly)
c.890T>G (p.Val297Gly)
n.5831T>G
c.5939T>G (p.Val1980Gly)
n.5645T>G
c.6248T>G (p.Val2083Gly)
c.5441T>G (p.Val1814Gly)
n.390T>G
c.1742T>G (p.Val581Gly)
c.5828T>G (p.Val1943Gly)
c.5192T>G (p.Val1731Gly)
c.1982T>G (p.Val661Gly)
5g.177288916A>CCA447740034NSD1c.5376A>C (p.Val1792=)
c.891A>C (p.Val297=)
n.5832A>C
c.5940A>C (p.Val1980=)
n.5646A>C
c.6249A>C (p.Val2083=)
c.5442A>C (p.Val1814=)
n.391A>C
c.1743A>C (p.Val581=)
c.5829A>C (p.Val1943=)
c.5193A>C (p.Val1731=)
c.1983A>C (p.Val661=)
5g.177288916A>GCA447740035NSD1c.5376A>G (p.Val1792=)
c.891A>G (p.Val297=)
n.5832A>G
c.5940A>G (p.Val1980=)
n.5646A>G
c.6249A>G (p.Val2083=)
c.5442A>G (p.Val1814=)
n.391A>G
c.1743A>G (p.Val581=)
c.5829A>G (p.Val1943=)
c.5193A>G (p.Val1731=)
c.1983A>G (p.Val661=)
5g.177288916A>TCA447740037NSD1c.5376A>T (p.Val1792=)
c.891A>T (p.Val297=)
n.5832A>T
c.5940A>T (p.Val1980=)
n.5646A>T
c.6249A>T (p.Val2083=)
c.5442A>T (p.Val1814=)
n.391A>T
c.1743A>T (p.Val581=)
c.5829A>T (p.Val1943=)
c.5193A>T (p.Val1731=)
c.1983A>T (p.Val661=)
5g.177288917A=CA1603528965NSD1c.5377A= (p.Arg1793=)
c.892A= (p.Arg298=)
n.5833A=
c.5941A= (p.Arg1981=)
n.5647A=
c.6250A= (p.Arg2084=)
c.5443A= (p.Arg1815=)
n.392A=
c.1744A= (p.Arg582=)
c.5830A= (p.Arg1944=)
c.5194A= (p.Arg1732=)
c.1984A= (p.Arg662=)
5g.177288917A>CCA447740038NSD1c.5377A>C (p.Arg1793=)
c.892A>C (p.Arg298=)
n.5833A>C
c.5941A>C (p.Arg1981=)
n.5647A>C
c.6250A>C (p.Arg2084=)
c.5443A>C (p.Arg1815=)
n.392A>C
c.1744A>C (p.Arg582=)
c.5830A>C (p.Arg1944=)
c.5194A>C (p.Arg1732=)
c.1984A>C (p.Arg662=)
 dbSNP gnomAD v4
5g.177288917A>GCA362318423NSD1c.5377A>G (p.Arg1793Gly)
c.892A>G (p.Arg298Gly)
n.5833A>G
c.5941A>G (p.Arg1981Gly)
n.5647A>G
c.6250A>G (p.Arg2084Gly)
c.5443A>G (p.Arg1815Gly)
n.392A>G
c.1744A>G (p.Arg582Gly)
c.5830A>G (p.Arg1944Gly)
c.5194A>G (p.Arg1732Gly)
c.1984A>G (p.Arg662Gly)
5g.177288917A>TCA362318424NSD1c.5377A>T (p.Arg1793Trp)
c.892A>T (p.Arg298Trp)
n.5833A>T
c.5941A>T (p.Arg1981Trp)
n.5647A>T
c.6250A>T (p.Arg2084Trp)
c.5443A>T (p.Arg1815Trp)
n.392A>T
c.1744A>T (p.Arg582Trp)
c.5830A>T (p.Arg1944Trp)
c.5194A>T (p.Arg1732Trp)
c.1984A>T (p.Arg662Trp)
5g.177288918G>ACA362318429NSD1c.5378G>A (p.Arg1793Lys)
c.893G>A (p.Arg298Lys)
n.5834G>A
c.5942G>A (p.Arg1981Lys)
n.5648G>A
c.6251G>A (p.Arg2084Lys)
c.5444G>A (p.Arg1815Lys)
n.393G>A
c.1745G>A (p.Arg582Lys)
c.5831G>A (p.Arg1944Lys)
c.5195G>A (p.Arg1732Lys)
c.1985G>A (p.Arg662Lys)
5g.177288918G>CCA362318442NSD1c.5378G>C (p.Arg1793Thr)
c.893G>C (p.Arg298Thr)
n.5834G>C
c.5942G>C (p.Arg1981Thr)
n.5648G>C
c.6251G>C (p.Arg2084Thr)
c.5444G>C (p.Arg1815Thr)
n.393G>C
c.1745G>C (p.Arg582Thr)
c.5831G>C (p.Arg1944Thr)
c.5195G>C (p.Arg1732Thr)
c.1985G>C (p.Arg662Thr)
5g.177288918G>TCA362318434NSD1c.5378G>T (p.Arg1793Met)
c.893G>T (p.Arg298Met)
n.5834G>T
c.5942G>T (p.Arg1981Met)
n.5648G>T
c.6251G>T (p.Arg2084Met)
c.5444G>T (p.Arg1815Met)
n.393G>T
c.1745G>T (p.Arg582Met)
c.5831G>T (p.Arg1944Met)
c.5195G>T (p.Arg1732Met)
c.1985G>T (p.Arg662Met)
5g.177288919G>ACA447740040NSD1c.5379G>A (p.Arg1793=)
c.894G>A (p.Arg298=)
n.5835G>A
c.5943G>A (p.Arg1981=)
n.5649G>A
c.6252G>A (p.Arg2084=)
c.5445G>A (p.Arg1815=)
n.394G>A
c.1746G>A (p.Arg582=)
c.5832G>A (p.Arg1944=)
c.5196G>A (p.Arg1732=)
c.1986G>A (p.Arg662=)
 gnomAD v4 COSMIC COSMIC
5g.177288919G>CCA362318455NSD1c.5379G>C (p.Arg1793Ser)
c.894G>C (p.Arg298Ser)
n.5835G>C
c.5943G>C (p.Arg1981Ser)
n.5649G>C
c.6252G>C (p.Arg2084Ser)
c.5445G>C (p.Arg1815Ser)
n.394G>C
c.1746G>C (p.Arg582Ser)
c.5832G>C (p.Arg1944Ser)
c.5196G>C (p.Arg1732Ser)
c.1986G>C (p.Arg662Ser)
5g.177288919G>TCA362318459NSD1c.5379G>T (p.Arg1793Ser)
c.894G>T (p.Arg298Ser)
n.5835G>T
c.5943G>T (p.Arg1981Ser)
n.5649G>T
c.6252G>T (p.Arg2084Ser)
c.5445G>T (p.Arg1815Ser)
n.394G>T
c.1746G>T (p.Arg582Ser)
c.5832G>T (p.Arg1944Ser)
c.5196G>T (p.Arg1732Ser)
c.1986G>T (p.Arg662Ser)
5g.177288920C>ACA362318465NSD1c.5380C>A (p.Pro1794Thr)
c.895C>A (p.Pro299Thr)
n.5836C>A
c.5944C>A (p.Pro1982Thr)
n.5650C>A
c.6253C>A (p.Pro2085Thr)
c.5446C>A (p.Pro1816Thr)
n.395C>A
c.1747C>A (p.Pro583Thr)
c.5833C>A (p.Pro1945Thr)
c.5197C>A (p.Pro1733Thr)
c.1987C>A (p.Pro663Thr)
 dbSNP gnomAD v4
5g.177288920C>GCA362318466NSD1c.5380C>G (p.Pro1794Ala)
c.895C>G (p.Pro299Ala)
n.5836C>G
c.5944C>G (p.Pro1982Ala)
n.5650C>G
c.6253C>G (p.Pro2085Ala)
c.5446C>G (p.Pro1816Ala)
n.395C>G
c.1747C>G (p.Pro583Ala)
c.5833C>G (p.Pro1945Ala)
c.5197C>G (p.Pro1733Ala)
c.1987C>G (p.Pro663Ala)
5g.177288920C>TCA362318468NSD1c.5380C>T (p.Pro1794Ser)
c.895C>T (p.Pro299Ser)
n.5836C>T
c.5944C>T (p.Pro1982Ser)
n.5650C>T
c.6253C>T (p.Pro2085Ser)
c.5446C>T (p.Pro1816Ser)
n.395C>T
c.1747C>T (p.Pro583Ser)
c.5833C>T (p.Pro1945Ser)
c.5197C>T (p.Pro1733Ser)
c.1987C>T (p.Pro663Ser)
 gnomAD v4
5g.177288921C>ACA362318475NSD1c.5381C>A (p.Pro1794Gln)
c.896C>A (p.Pro299Gln)
n.5837C>A
c.5945C>A (p.Pro1982Gln)
n.5651C>A
c.6254C>A (p.Pro2085Gln)
c.5447C>A (p.Pro1816Gln)
n.396C>A
c.1748C>A (p.Pro583Gln)
c.5834C>A (p.Pro1945Gln)
c.5198C>A (p.Pro1733Gln)
c.1988C>A (p.Pro663Gln)
5g.177288921C>GCA362318478NSD1c.5381C>G (p.Pro1794Arg)
c.896C>G (p.Pro299Arg)
n.5837C>G
c.5945C>G (p.Pro1982Arg)
n.5651C>G
c.6254C>G (p.Pro2085Arg)
c.5447C>G (p.Pro1816Arg)
n.396C>G
c.1748C>G (p.Pro583Arg)
c.5834C>G (p.Pro1945Arg)
c.5198C>G (p.Pro1733Arg)
c.1988C>G (p.Pro663Arg)
5g.177288921C>TCA362318481NSD1c.5381C>T (p.Pro1794Leu)
c.896C>T (p.Pro299Leu)
n.5837C>T
c.5945C>T (p.Pro1982Leu)
n.5651C>T
c.6254C>T (p.Pro2085Leu)
c.5447C>T (p.Pro1816Leu)
n.396C>T
c.1748C>T (p.Pro583Leu)
c.5834C>T (p.Pro1945Leu)
c.5198C>T (p.Pro1733Leu)
c.1988C>T (p.Pro663Leu)
5g.177288922A>CCA447740046NSD1c.5382A>C (p.Pro1794=)
c.897A>C (p.Pro299=)
n.5838A>C
c.5946A>C (p.Pro1982=)
n.5652A>C
c.6255A>C (p.Pro2085=)
c.5448A>C (p.Pro1816=)
n.397A>C
c.1749A>C (p.Pro583=)
c.5835A>C (p.Pro1945=)
c.5199A>C (p.Pro1733=)
c.1989A>C (p.Pro663=)
5g.177288922A>GCA447740045NSD1c.5382A>G (p.Pro1794=)
c.897A>G (p.Pro299=)
n.5838A>G
c.5946A>G (p.Pro1982=)
n.5652A>G
c.6255A>G (p.Pro2085=)
c.5448A>G (p.Pro1816=)
n.397A>G
c.1749A>G (p.Pro583=)
c.5835A>G (p.Pro1945=)
c.5199A>G (p.Pro1733=)
c.1989A>G (p.Pro663=)
5g.177288922A>TCA447740043NSD1c.5382A>T (p.Pro1794=)
c.897A>T (p.Pro299=)
n.5838A>T
c.5946A>T (p.Pro1982=)
n.5652A>T
c.6255A>T (p.Pro2085=)
c.5448A>T (p.Pro1816=)
n.397A>T
c.1749A>T (p.Pro583=)
c.5835A>T (p.Pro1945=)
c.5199A>T (p.Pro1733=)
c.1989A>T (p.Pro663=)
5g.177288924dupCA2582341658NSD1c.5384dup (p.Asn1796GlufsTer26)
c.899dup (p.Asn301GlufsTer26)
n.5840dup
c.5948dup (p.Asn1984GlufsTer26)
n.5654dup
c.6257dup (p.Asn2087GlufsTer26)
c.5450dup (p.Asn1818GlufsTer26)
n.399dup
c.1751dup (p.Asn585GlufsTer26)
c.5837dup (p.Asn1947GlufsTer26)
c.5201dup (p.Asn1735GlufsTer26)
c.1991dup (p.Asn665GlufsTer26)
 ClinVar
5g.177288923A=CA1603528969NSD1c.5383A= (p.Lys1795=)
c.898A= (p.Lys300=)
n.5839A=
c.5947A= (p.Lys1983=)
n.5653A=
c.6256A= (p.Lys2086=)
c.5449A= (p.Lys1817=)
n.398A=
c.1750A= (p.Lys584=)
c.5836A= (p.Lys1946=)
c.5200A= (p.Lys1734=)
c.1990A= (p.Lys664=)
5g.177288923A>CCA362318487NSD1c.5383A>C (p.Lys1795Gln)
c.898A>C (p.Lys300Gln)
n.5839A>C
c.5947A>C (p.Lys1983Gln)
n.5653A>C
c.6256A>C (p.Lys2086Gln)
c.5449A>C (p.Lys1817Gln)
n.398A>C
c.1750A>C (p.Lys584Gln)
c.5836A>C (p.Lys1946Gln)
c.5200A>C (p.Lys1734Gln)
c.1990A>C (p.Lys664Gln)
 gnomAD v4
5g.177288923A>GCA362318490NSD1c.5383A>G (p.Lys1795Glu)
c.898A>G (p.Lys300Glu)
n.5839A>G
c.5947A>G (p.Lys1983Glu)
n.5653A>G
c.6256A>G (p.Lys2086Glu)
c.5449A>G (p.Lys1817Glu)
n.398A>G
c.1750A>G (p.Lys584Glu)
c.5836A>G (p.Lys1946Glu)
c.5200A>G (p.Lys1734Glu)
c.1990A>G (p.Lys664Glu)
5g.177288923A>TCA362318494NSD1c.5383A>T (p.Lys1795Ter)
c.898A>T (p.Lys300Ter)
n.5839A>T
c.5947A>T (p.Lys1983Ter)
n.5653A>T
c.6256A>T (p.Lys2086Ter)
c.5449A>T (p.Lys1817Ter)
n.398A>T
c.1750A>T (p.Lys584Ter)
c.5836A>T (p.Lys1946Ter)
c.5200A>T (p.Lys1734Ter)
c.1990A>T (p.Lys664Ter)
 ClinVar dbSNP
5g.177288924A>CCA362318502NSD1c.5384A>C (p.Lys1795Thr)
c.899A>C (p.Lys300Thr)
n.5840A>C
c.5948A>C (p.Lys1983Thr)
n.5654A>C
c.6257A>C (p.Lys2086Thr)
c.5450A>C (p.Lys1817Thr)
n.399A>C
c.1751A>C (p.Lys584Thr)
c.5837A>C (p.Lys1946Thr)
c.5201A>C (p.Lys1734Thr)
c.1991A>C (p.Lys664Thr)
5g.177288924A>GCA362318498NSD1c.5384A>G (p.Lys1795Arg)
c.899A>G (p.Lys300Arg)
n.5840A>G
c.5948A>G (p.Lys1983Arg)
n.5654A>G
c.6257A>G (p.Lys2086Arg)
c.5450A>G (p.Lys1817Arg)
n.399A>G
c.1751A>G (p.Lys584Arg)
c.5837A>G (p.Lys1946Arg)
c.5201A>G (p.Lys1734Arg)
c.1991A>G (p.Lys664Arg)
5g.177288924A>TCA362318497NSD1c.5384A>T (p.Lys1795Met)
c.899A>T (p.Lys300Met)
n.5840A>T
c.5948A>T (p.Lys1983Met)
n.5654A>T
c.6257A>T (p.Lys2086Met)
c.5450A>T (p.Lys1817Met)
n.399A>T
c.1751A>T (p.Lys584Met)
c.5837A>T (p.Lys1946Met)
c.5201A>T (p.Lys1734Met)
c.1991A>T (p.Lys664Met)
5g.177288925G>ACA447740047NSD1c.5385G>A (p.Lys1795=)
c.900G>A (p.Lys300=)
n.5841G>A
c.5949G>A (p.Lys1983=)
n.5655G>A
c.6258G>A (p.Lys2086=)
c.5451G>A (p.Lys1817=)
n.400G>A
c.1752G>A (p.Lys584=)
c.5838G>A (p.Lys1946=)
c.5202G>A (p.Lys1734=)
c.1992G>A (p.Lys664=)
5g.177288925G>CCA362318506NSD1c.5385G>C (p.Lys1795Asn)
c.900G>C (p.Lys300Asn)
n.5841G>C
c.5949G>C (p.Lys1983Asn)
n.5655G>C
c.6258G>C (p.Lys2086Asn)
c.5451G>C (p.Lys1817Asn)
n.400G>C
c.1752G>C (p.Lys584Asn)
c.5838G>C (p.Lys1946Asn)
c.5202G>C (p.Lys1734Asn)
c.1992G>C (p.Lys664Asn)
5g.177288925G=CA1603528971NSD1c.5385G= (p.Lys1795=)
c.900G= (p.Lys300=)
n.5841G=
c.5949G= (p.Lys1983=)
n.5655G=
c.6258G= (p.Lys2086=)
c.5451G= (p.Lys1817=)
n.400G=
c.1752G= (p.Lys584=)
c.5838G= (p.Lys1946=)
c.5202G= (p.Lys1734=)
c.1992G= (p.Lys664=)
5g.177288925G>TCA362318509NSD1c.5385G>T (p.Lys1795Asn)
c.900G>T (p.Lys300Asn)
n.5841G>T
c.5949G>T (p.Lys1983Asn)
n.5655G>T
c.6258G>T (p.Lys2086Asn)
c.5451G>T (p.Lys1817Asn)
n.400G>T
c.1752G>T (p.Lys584Asn)
c.5838G>T (p.Lys1946Asn)
c.5202G>T (p.Lys1734Asn)
c.1992G>T (p.Lys664Asn)
 ClinVar dbSNP
5g.177288926G>ACA295049NSD1c.5385+1G>A (n.5385+1G>A)
c.900+1G>A (n.900+1G>A)
n.5841+1G>A
c.5949+1G>A (n.5949+1G>A)
n.5655+1G>A
c.6258+1G>A (n.6258+1G>A)
c.5451+1G>A (n.5451+1G>A)
n.400+1G>A
c.1752+1G>A (n.1752+1G>A)
c.5838+1G>A (n.5838+1G>A)
c.5202+1G>A (n.5202+1G>A)
c.1992+1G>A (n.1992+1G>A)
 ClinVar dbSNP
5g.177288926G>CCA362318518NSD1c.5385+1G>C (n.5385+1G>C)
c.900+1G>C (n.900+1G>C)
n.5841+1G>C
c.5949+1G>C (n.5949+1G>C)
n.5655+1G>C
c.6258+1G>C (n.6258+1G>C)
c.5451+1G>C (n.5451+1G>C)
n.400+1G>C
c.1752+1G>C (n.1752+1G>C)
c.5838+1G>C (n.5838+1G>C)
c.5202+1G>C (n.5202+1G>C)
c.1992+1G>C (n.1992+1G>C)
5g.177288926G=CA1603528975NSD1c.5385+1G= (n.5385+1G=)
c.900+1G= (n.900+1G=)
n.5841+1G=
c.5949+1G= (n.5949+1G=)
n.5655+1G=
c.6258+1G= (n.6258+1G=)
c.5451+1G= (n.5451+1G=)
n.400+1G=
c.1752+1G= (n.1752+1G=)
c.5838+1G= (n.5838+1G=)
c.5202+1G= (n.5202+1G=)
c.1992+1G= (n.1992+1G=)
5g.177288926G>TCA362318521NSD1c.5385+1G>T (n.5385+1G>T)
c.900+1G>T (n.900+1G>T)
n.5841+1G>T
c.5949+1G>T (n.5949+1G>T)
n.5655+1G>T
c.6258+1G>T (n.6258+1G>T)
c.5451+1G>T (n.5451+1G>T)
n.400+1G>T
c.1752+1G>T (n.1752+1G>T)
c.5838+1G>T (n.5838+1G>T)
c.5202+1G>T (n.5202+1G>T)
c.1992+1G>T (n.1992+1G>T)
 ClinVar dbSNP
5g.177288926_177288927delCA2711011804NSD1c.5385+1_5385+2del (n.5385+1_5385+2del)
c.900+1_900+2del (n.900+1_900+2del)
n.5841+1_5841+2del
c.5949+1_5949+2del (n.5949+1_5949+2del)
n.5655+1_5655+2del
c.6258+1_6258+2del (n.6258+1_6258+2del)
c.5451+1_5451+2del (n.5451+1_5451+2del)
n.400+1_400+2del
c.1752+1_1752+2del (n.1752+1_1752+2del)
c.5838+1_5838+2del (n.5838+1_5838+2del)
c.5202+1_5202+2del (n.5202+1_5202+2del)
c.1992+1_1992+2del (n.1992+1_1992+2del)
 dbSNP

Number of alleles fetched