Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.177259987A=CA1603526977NSD1c.4094-2A= (n.4094-2A=)
n.4550-2A=
c.4658-2A= (n.4658-2A=)
n.4364-2A=
n.5114-2A=
c.4967-2A= (n.4967-2A=)
c.4160-2A= (n.4160-2A=)
c.461-2A= (n.461-2A=)
c.4547-2A= (n.4547-2A=)
c.3911-2A= (n.3911-2A=)
c.701-2A= (n.701-2A=)
5g.177259987A>CCA362302415NSD1c.4094-2A>C (n.4094-2A>C)
n.4550-2A>C
c.4658-2A>C (n.4658-2A>C)
n.4364-2A>C
n.5114-2A>C
c.4967-2A>C (n.4967-2A>C)
c.4160-2A>C (n.4160-2A>C)
c.461-2A>C (n.461-2A>C)
c.4547-2A>C (n.4547-2A>C)
c.3911-2A>C (n.3911-2A>C)
c.701-2A>C (n.701-2A>C)
5g.177259987A>GCA362302418NSD1c.4094-2A>G (n.4094-2A>G)
n.4550-2A>G
c.4658-2A>G (n.4658-2A>G)
n.4364-2A>G
n.5114-2A>G
c.4967-2A>G (n.4967-2A>G)
c.4160-2A>G (n.4160-2A>G)
c.461-2A>G (n.461-2A>G)
c.4547-2A>G (n.4547-2A>G)
c.3911-2A>G (n.3911-2A>G)
c.701-2A>G (n.701-2A>G)
5g.177259987A>TCA294926NSD1c.4094-2A>T (n.4094-2A>T)
n.4550-2A>T
c.4658-2A>T (n.4658-2A>T)
n.4364-2A>T
n.5114-2A>T
c.4967-2A>T (n.4967-2A>T)
c.4160-2A>T (n.4160-2A>T)
c.461-2A>T (n.461-2A>T)
c.4547-2A>T (n.4547-2A>T)
c.3911-2A>T (n.3911-2A>T)
c.701-2A>T (n.701-2A>T)
 ClinVar dbSNP
5g.177259988G>ACA362302423NSD1c.4094-1G>A (n.4094-1G>A)
n.4550-1G>A
c.4658-1G>A (n.4658-1G>A)
n.4364-1G>A
n.5114-1G>A
c.4967-1G>A (n.4967-1G>A)
c.4160-1G>A (n.4160-1G>A)
c.461-1G>A (n.461-1G>A)
c.4547-1G>A (n.4547-1G>A)
c.3911-1G>A (n.3911-1G>A)
c.701-1G>A (n.701-1G>A)
5g.177259988G>CCA362302430NSD1c.4094-1G>C (n.4094-1G>C)
n.4550-1G>C
c.4658-1G>C (n.4658-1G>C)
n.4364-1G>C
n.5114-1G>C
c.4967-1G>C (n.4967-1G>C)
c.4160-1G>C (n.4160-1G>C)
c.461-1G>C (n.461-1G>C)
c.4547-1G>C (n.4547-1G>C)
c.3911-1G>C (n.3911-1G>C)
c.701-1G>C (n.701-1G>C)
5g.177259988G>TCA362302427NSD1c.4094-1G>T (n.4094-1G>T)
n.4550-1G>T
c.4658-1G>T (n.4658-1G>T)
n.4364-1G>T
n.5114-1G>T
c.4967-1G>T (n.4967-1G>T)
c.4160-1G>T (n.4160-1G>T)
c.461-1G>T (n.461-1G>T)
c.4547-1G>T (n.4547-1G>T)
c.3911-1G>T (n.3911-1G>T)
c.701-1G>T (n.701-1G>T)
5g.177259989G>ACA362302435NSD1c.4094G>A (p.Gly1365Asp)
n.4550G>A
c.4658G>A (p.Gly1553Asp)
n.4364G>A
n.5114G>A
c.4967G>A (p.Gly1656Asp)
c.4160G>A (p.Gly1387Asp)
c.461G>A (p.Gly154Asp)
c.4547G>A (p.Gly1516Asp)
c.3911G>A (p.Gly1304Asp)
c.701G>A (p.Gly234Asp)
5g.177259989G>CCA362302438NSD1c.4094G>C (p.Gly1365Ala)
n.4550G>C
c.4658G>C (p.Gly1553Ala)
n.4364G>C
n.5114G>C
c.4967G>C (p.Gly1656Ala)
c.4160G>C (p.Gly1387Ala)
c.461G>C (p.Gly154Ala)
c.4547G>C (p.Gly1516Ala)
c.3911G>C (p.Gly1304Ala)
c.701G>C (p.Gly234Ala)
5g.177259989G>TCA362302440NSD1c.4094G>T (p.Gly1365Val)
n.4550G>T
c.4658G>T (p.Gly1553Val)
n.4364G>T
n.5114G>T
c.4967G>T (p.Gly1656Val)
c.4160G>T (p.Gly1387Val)
c.461G>T (p.Gly154Val)
c.4547G>T (p.Gly1516Val)
c.3911G>T (p.Gly1304Val)
c.701G>T (p.Gly234Val)
 COSMIC COSMIC
5g.177259990T>ACA447726227NSD1c.4095T>A (p.Gly1365=)
n.4551T>A
c.4659T>A (p.Gly1553=)
n.4365T>A
n.5115T>A
c.4968T>A (p.Gly1656=)
c.4161T>A (p.Gly1387=)
c.462T>A (p.Gly154=)
c.4548T>A (p.Gly1516=)
c.3912T>A (p.Gly1304=)
c.702T>A (p.Gly234=)
 gnomAD v4
5g.177259990T>CCA447726228NSD1c.4095T>C (p.Gly1365=)
n.4551T>C
c.4659T>C (p.Gly1553=)
n.4365T>C
n.5115T>C
c.4968T>C (p.Gly1656=)
c.4161T>C (p.Gly1387=)
c.462T>C (p.Gly154=)
c.4548T>C (p.Gly1516=)
c.3912T>C (p.Gly1304=)
c.702T>C (p.Gly234=)
5g.177259990T>GCA447726229NSD1c.4095T>G (p.Gly1365=)
n.4551T>G
c.4659T>G (p.Gly1553=)
n.4365T>G
n.5115T>G
c.4968T>G (p.Gly1656=)
c.4161T>G (p.Gly1387=)
c.462T>G (p.Gly154=)
c.4548T>G (p.Gly1516=)
c.3912T>G (p.Gly1304=)
c.702T>G (p.Gly234=)
5g.177259991C>ACA447726230NSD1c.4096C>A (p.Arg1366=)
n.4552C>A
c.4660C>A (p.Arg1554=)
n.4366C>A
n.5116C>A
c.4969C>A (p.Arg1657=)
c.4162C>A (p.Arg1388=)
c.463C>A (p.Arg155=)
c.4549C>A (p.Arg1517=)
c.3913C>A (p.Arg1305=)
c.703C>A (p.Arg235=)
5g.177259991C>GCA362302443NSD1c.4096C>G (p.Arg1366Gly)
n.4552C>G
c.4660C>G (p.Arg1554Gly)
n.4366C>G
n.5116C>G
c.4969C>G (p.Arg1657Gly)
c.4162C>G (p.Arg1388Gly)
c.463C>G (p.Arg155Gly)
c.4549C>G (p.Arg1517Gly)
c.3913C>G (p.Arg1305Gly)
c.703C>G (p.Arg235Gly)
5g.177259991C>TCA362302447NSD1c.4096C>T (p.Arg1366Trp)
n.4552C>T
c.4660C>T (p.Arg1554Trp)
n.4366C>T
n.5116C>T
c.4969C>T (p.Arg1657Trp)
c.4162C>T (p.Arg1388Trp)
c.463C>T (p.Arg155Trp)
c.4549C>T (p.Arg1517Trp)
c.3913C>T (p.Arg1305Trp)
c.703C>T (p.Arg235Trp)
 dbSNP
5g.177259992G>ACA362302452NSD1c.4097G>A (p.Arg1366Gln)
n.4553G>A
c.4661G>A (p.Arg1554Gln)
n.4367G>A
n.5117G>A
c.4970G>A (p.Arg1657Gln)
c.4163G>A (p.Arg1388Gln)
c.464G>A (p.Arg155Gln)
c.4550G>A (p.Arg1517Gln)
c.3914G>A (p.Arg1305Gln)
c.704G>A (p.Arg235Gln)
 ClinVar dbSNP gnomAD v4
5g.177259992G>CCA362302453NSD1c.4097G>C (p.Arg1366Pro)
n.4553G>C
c.4661G>C (p.Arg1554Pro)
n.4367G>C
n.5117G>C
c.4970G>C (p.Arg1657Pro)
c.4163G>C (p.Arg1388Pro)
c.464G>C (p.Arg155Pro)
c.4550G>C (p.Arg1517Pro)
c.3914G>C (p.Arg1305Pro)
c.704G>C (p.Arg235Pro)
5g.177259992G=CA1603526991NSD1c.4097G= (p.Arg1366=)
n.4553G=
c.4661G= (p.Arg1554=)
n.4367G=
n.5117G=
c.4970G= (p.Arg1657=)
c.4163G= (p.Arg1388=)
c.464G= (p.Arg155=)
c.4550G= (p.Arg1517=)
c.3914G= (p.Arg1305=)
c.704G= (p.Arg235=)
5g.177259992G>TCA362302457NSD1c.4097G>T (p.Arg1366Leu)
n.4553G>T
c.4661G>T (p.Arg1554Leu)
n.4367G>T
n.5117G>T
c.4970G>T (p.Arg1657Leu)
c.4163G>T (p.Arg1388Leu)
c.464G>T (p.Arg155Leu)
c.4550G>T (p.Arg1517Leu)
c.3914G>T (p.Arg1305Leu)
c.704G>T (p.Arg235Leu)
5g.177259993G>ACA447726231NSD1c.4098G>A (p.Arg1366=)
n.4554G>A
c.4662G>A (p.Arg1554=)
n.4368G>A
n.5118G>A
c.4971G>A (p.Arg1657=)
c.4164G>A (p.Arg1388=)
c.465G>A (p.Arg155=)
c.4551G>A (p.Arg1517=)
c.3915G>A (p.Arg1305=)
c.705G>A (p.Arg235=)
 dbSNP
5g.177259993G>CCA447726233NSD1c.4098G>C (p.Arg1366=)
n.4554G>C
c.4662G>C (p.Arg1554=)
n.4368G>C
n.5118G>C
c.4971G>C (p.Arg1657=)
c.4164G>C (p.Arg1388=)
c.465G>C (p.Arg155=)
c.4551G>C (p.Arg1517=)
c.3915G>C (p.Arg1305=)
c.705G>C (p.Arg235=)
5g.177259993G>TCA447726232NSD1c.4098G>T (p.Arg1366=)
n.4554G>T
c.4662G>T (p.Arg1554=)
n.4368G>T
n.5118G>T
c.4971G>T (p.Arg1657=)
c.4164G>T (p.Arg1388=)
c.465G>T (p.Arg155=)
c.4551G>T (p.Arg1517=)
c.3915G>T (p.Arg1305=)
c.705G>T (p.Arg235=)
5g.177259994_177259996delCA2573320528NSD1c.4099_4101del (p.Leu1367del)
n.4555_4557del
c.4663_4665del (p.Leu1555del)
n.4369_4371del
n.5119_5121del
c.4972_4974del (p.Leu1658del)
c.4165_4167del (p.Leu1389del)
c.466_468del (p.Leu156del)
c.4552_4554del (p.Leu1518del)
c.3916_3918del (p.Leu1306del)
c.706_708del (p.Leu236del)
 ClinVar
5g.177259994T>ACA362302462NSD1c.4099T>A (p.Leu1367Met)
n.4555T>A
c.4663T>A (p.Leu1555Met)
n.4369T>A
n.5119T>A
c.4972T>A (p.Leu1658Met)
c.4165T>A (p.Leu1389Met)
c.466T>A (p.Leu156Met)
c.4552T>A (p.Leu1518Met)
c.3916T>A (p.Leu1306Met)
c.706T>A (p.Leu236Met)
5g.177259994T>CCA447726234NSD1c.4099T>C (p.Leu1367=)
n.4555T>C
c.4663T>C (p.Leu1555=)
n.4369T>C
n.5119T>C
c.4972T>C (p.Leu1658=)
c.4165T>C (p.Leu1389=)
c.466T>C (p.Leu156=)
c.4552T>C (p.Leu1518=)
c.3916T>C (p.Leu1306=)
c.706T>C (p.Leu236=)
5g.177259994T>GCA362302465NSD1c.4099T>G (p.Leu1367Val)
n.4555T>G
c.4663T>G (p.Leu1555Val)
n.4369T>G
n.5119T>G
c.4972T>G (p.Leu1658Val)
c.4165T>G (p.Leu1389Val)
c.466T>G (p.Leu156Val)
c.4552T>G (p.Leu1518Val)
c.3916T>G (p.Leu1306Val)
c.706T>G (p.Leu236Val)
5g.177259995T>ACA132830135NSD1c.4100T>A (p.Leu1367Ter)
n.4556T>A
c.4664T>A (p.Leu1555Ter)
n.4370T>A
n.5120T>A
c.4973T>A (p.Leu1658Ter)
c.4166T>A (p.Leu1389Ter)
c.467T>A (p.Leu156Ter)
c.4553T>A (p.Leu1518Ter)
c.3917T>A (p.Leu1306Ter)
c.707T>A (p.Leu236Ter)
 dbSNP
5g.177259995T>CCA362302472NSD1c.4100T>C (p.Leu1367Ser)
n.4556T>C
c.4664T>C (p.Leu1555Ser)
n.4370T>C
n.5120T>C
c.4973T>C (p.Leu1658Ser)
c.4166T>C (p.Leu1389Ser)
c.467T>C (p.Leu156Ser)
c.4553T>C (p.Leu1518Ser)
c.3917T>C (p.Leu1306Ser)
c.707T>C (p.Leu236Ser)
5g.177259995T>GCA362302468NSD1c.4100T>G (p.Leu1367Trp)
n.4556T>G
c.4664T>G (p.Leu1555Trp)
n.4370T>G
n.5120T>G
c.4973T>G (p.Leu1658Trp)
c.4166T>G (p.Leu1389Trp)
c.467T>G (p.Leu156Trp)
c.4553T>G (p.Leu1518Trp)
c.3917T>G (p.Leu1306Trp)
c.707T>G (p.Leu236Trp)
5g.177259995T=CA1603526994NSD1c.4100T= (p.Leu1367=)
n.4556T=
c.4664T= (p.Leu1555=)
n.4370T=
n.5120T=
c.4973T= (p.Leu1658=)
c.4166T= (p.Leu1389=)
c.467T= (p.Leu156=)
c.4553T= (p.Leu1518=)
c.3917T= (p.Leu1306=)
c.707T= (p.Leu236=)
5g.177259996G>ACA447726235NSD1c.4101G>A (p.Leu1367=)
n.4557G>A
c.4665G>A (p.Leu1555=)
n.4371G>A
n.5121G>A
c.4974G>A (p.Leu1658=)
c.4167G>A (p.Leu1389=)
c.468G>A (p.Leu156=)
c.4554G>A (p.Leu1518=)
c.3918G>A (p.Leu1306=)
c.708G>A (p.Leu236=)
 gnomAD v4 COSMIC COSMIC
5g.177259996G>CCA362302478NSD1c.4101G>C (p.Leu1367Phe)
n.4557G>C
c.4665G>C (p.Leu1555Phe)
n.4371G>C
n.5121G>C
c.4974G>C (p.Leu1658Phe)
c.4167G>C (p.Leu1389Phe)
c.468G>C (p.Leu156Phe)
c.4554G>C (p.Leu1518Phe)
c.3918G>C (p.Leu1306Phe)
c.708G>C (p.Leu236Phe)
5g.177259996G>TCA362302479NSD1c.4101G>T (p.Leu1367Phe)
n.4557G>T
c.4665G>T (p.Leu1555Phe)
n.4371G>T
n.5121G>T
c.4974G>T (p.Leu1658Phe)
c.4167G>T (p.Leu1389Phe)
c.468G>T (p.Leu156Phe)
c.4554G>T (p.Leu1518Phe)
c.3918G>T (p.Leu1306Phe)
c.708G>T (p.Leu236Phe)
5g.177259997A>CCA362302486NSD1c.4102A>C (p.Met1368Leu)
n.4558A>C
c.4666A>C (p.Met1556Leu)
n.4372A>C
n.5122A>C
c.4975A>C (p.Met1659Leu)
c.4168A>C (p.Met1390Leu)
c.469A>C (p.Met157Leu)
c.4555A>C (p.Met1519Leu)
c.3919A>C (p.Met1307Leu)
c.709A>C (p.Met237Leu)
5g.177259997A>GCA362302488NSD1c.4102A>G (p.Met1368Val)
n.4558A>G
c.4666A>G (p.Met1556Val)
n.4372A>G
n.5122A>G
c.4975A>G (p.Met1659Val)
c.4168A>G (p.Met1390Val)
c.469A>G (p.Met157Val)
c.4555A>G (p.Met1519Val)
c.3919A>G (p.Met1307Val)
c.709A>G (p.Met237Val)
5g.177259997A>TCA362302491NSD1c.4102A>T (p.Met1368Leu)
n.4558A>T
c.4666A>T (p.Met1556Leu)
n.4372A>T
n.5122A>T
c.4975A>T (p.Met1659Leu)
c.4168A>T (p.Met1390Leu)
c.469A>T (p.Met157Leu)
c.4555A>T (p.Met1519Leu)
c.3919A>T (p.Met1307Leu)
c.709A>T (p.Met237Leu)
5g.177259998T>ACA362302502NSD1c.4103T>A (p.Met1368Lys)
n.4559T>A
c.4667T>A (p.Met1556Lys)
n.4373T>A
n.5123T>A
c.4976T>A (p.Met1659Lys)
c.4169T>A (p.Met1390Lys)
c.470T>A (p.Met157Lys)
c.4556T>A (p.Met1519Lys)
c.3920T>A (p.Met1307Lys)
c.710T>A (p.Met237Lys)
5g.177259998T>CCA362302499NSD1c.4103T>C (p.Met1368Thr)
n.4559T>C
c.4667T>C (p.Met1556Thr)
n.4373T>C
n.5123T>C
c.4976T>C (p.Met1659Thr)
c.4169T>C (p.Met1390Thr)
c.470T>C (p.Met157Thr)
c.4556T>C (p.Met1519Thr)
c.3920T>C (p.Met1307Thr)
c.710T>C (p.Met237Thr)
 gnomAD v4
5g.177259998T>GCA362302496NSD1c.4103T>G (p.Met1368Arg)
n.4559T>G
c.4667T>G (p.Met1556Arg)
n.4373T>G
n.5123T>G
c.4976T>G (p.Met1659Arg)
c.4169T>G (p.Met1390Arg)
c.470T>G (p.Met157Arg)
c.4556T>G (p.Met1519Arg)
c.3920T>G (p.Met1307Arg)
c.710T>G (p.Met237Arg)
5g.177259998T=CA1603526999NSD1c.4103T= (p.Met1368=)
n.4559T=
c.4667T= (p.Met1556=)
n.4373T=
n.5123T=
c.4976T= (p.Met1659=)
c.4169T= (p.Met1390=)
c.470T= (p.Met157=)
c.4556T= (p.Met1519=)
c.3920T= (p.Met1307=)
c.710T= (p.Met237=)
5g.177259999G>ACA362302505NSD1c.4104G>A (p.Met1368Ile)
n.4560G>A
c.4668G>A (p.Met1556Ile)
n.4374G>A
n.5124G>A
c.4977G>A (p.Met1659Ile)
c.4170G>A (p.Met1390Ile)
c.471G>A (p.Met157Ile)
c.4557G>A (p.Met1519Ile)
c.3921G>A (p.Met1307Ile)
c.711G>A (p.Met237Ile)
5g.177259999G>CCA362302507NSD1c.4104G>C (p.Met1368Ile)
n.4560G>C
c.4668G>C (p.Met1556Ile)
n.4374G>C
n.5124G>C
c.4977G>C (p.Met1659Ile)
c.4170G>C (p.Met1390Ile)
c.471G>C (p.Met157Ile)
c.4557G>C (p.Met1519Ile)
c.3921G>C (p.Met1307Ile)
c.711G>C (p.Met237Ile)
5g.177259999G>TCA362302509NSD1c.4104G>T (p.Met1368Ile)
n.4560G>T
c.4668G>T (p.Met1556Ile)
n.4374G>T
n.5124G>T
c.4977G>T (p.Met1659Ile)
c.4170G>T (p.Met1390Ile)
c.471G>T (p.Met157Ile)
c.4557G>T (p.Met1519Ile)
c.3921G>T (p.Met1307Ile)
c.711G>T (p.Met237Ile)
5g.177259999dupCA891843271NSD1c.4104dup (p.Arg1369AlafsTer13)
n.4560dup
c.4668dup (p.Arg1557AlafsTer13)
n.4374dup
n.5124dup
c.4977dup (p.Arg1660AlafsTer13)
c.4170dup (p.Arg1391AlafsTer13)
c.471dup (p.Arg158AlafsTer13)
c.4557dup (p.Arg1520AlafsTer13)
c.3921dup (p.Arg1308AlafsTer13)
c.711dup (p.Arg238AlafsTer13)
 ClinVar dbSNP
5g.177260000C>ACA362302512NSD1c.4105C>A (p.Arg1369Ser)
n.4561C>A
c.4669C>A (p.Arg1557Ser)
n.4375C>A
n.5125C>A
c.4978C>A (p.Arg1660Ser)
c.4171C>A (p.Arg1391Ser)
c.472C>A (p.Arg158Ser)
c.4558C>A (p.Arg1520Ser)
c.3922C>A (p.Arg1308Ser)
c.712C>A (p.Arg238Ser)
5g.177260000C>GCA362302514NSD1c.4105C>G (p.Arg1369Gly)
n.4561C>G
c.4669C>G (p.Arg1557Gly)
n.4375C>G
n.5125C>G
c.4978C>G (p.Arg1660Gly)
c.4171C>G (p.Arg1391Gly)
c.472C>G (p.Arg158Gly)
c.4558C>G (p.Arg1520Gly)
c.3922C>G (p.Arg1308Gly)
c.712C>G (p.Arg238Gly)
5g.177260000C>TCA362302516NSD1c.4105C>T (p.Arg1369Cys)
n.4561C>T
c.4669C>T (p.Arg1557Cys)
n.4375C>T
n.5125C>T
c.4978C>T (p.Arg1660Cys)
c.4171C>T (p.Arg1391Cys)
c.472C>T (p.Arg158Cys)
c.4558C>T (p.Arg1520Cys)
c.3922C>T (p.Arg1308Cys)
c.712C>T (p.Arg238Cys)
 dbSNP gnomAD v4 COSMIC COSMIC
5g.177260001G>ACA362302521NSD1c.4106G>A (p.Arg1369His)
n.4562G>A
c.4670G>A (p.Arg1557His)
n.4376G>A
n.5126G>A
c.4979G>A (p.Arg1660His)
c.4172G>A (p.Arg1391His)
c.473G>A (p.Arg158His)
c.4559G>A (p.Arg1520His)
c.3923G>A (p.Arg1308His)
c.713G>A (p.Arg238His)
 dbSNP gnomAD v4
5g.177260001G>CCA362302525NSD1c.4106G>C (p.Arg1369Pro)
n.4562G>C
c.4670G>C (p.Arg1557Pro)
n.4376G>C
n.5126G>C
c.4979G>C (p.Arg1660Pro)
c.4172G>C (p.Arg1391Pro)
c.473G>C (p.Arg158Pro)
c.4559G>C (p.Arg1520Pro)
c.3923G>C (p.Arg1308Pro)
c.713G>C (p.Arg238Pro)
5g.177260001G>TCA362302524NSD1c.4106G>T (p.Arg1369Leu)
n.4562G>T
c.4670G>T (p.Arg1557Leu)
n.4376G>T
n.5126G>T
c.4979G>T (p.Arg1660Leu)
c.4172G>T (p.Arg1391Leu)
c.473G>T (p.Arg158Leu)
c.4559G>T (p.Arg1520Leu)
c.3923G>T (p.Arg1308Leu)
c.713G>T (p.Arg238Leu)
5g.177260002C>ACA447726239NSD1c.4107C>A (p.Arg1369=)
n.4563C>A
c.4671C>A (p.Arg1557=)
n.4377C>A
n.5127C>A
c.4980C>A (p.Arg1660=)
c.4173C>A (p.Arg1391=)
c.474C>A (p.Arg158=)
c.4560C>A (p.Arg1520=)
c.3924C>A (p.Arg1308=)
c.714C>A (p.Arg238=)
5g.177260002C>GCA447726240NSD1c.4107C>G (p.Arg1369=)
n.4563C>G
c.4671C>G (p.Arg1557=)
n.4377C>G
n.5127C>G
c.4980C>G (p.Arg1660=)
c.4173C>G (p.Arg1391=)
c.474C>G (p.Arg158=)
c.4560C>G (p.Arg1520=)
c.3924C>G (p.Arg1308=)
c.714C>G (p.Arg238=)
5g.177260002C>TCA447726243NSD1c.4107C>T (p.Arg1369=)
n.4563C>T
c.4671C>T (p.Arg1557=)
n.4377C>T
n.5127C>T
c.4980C>T (p.Arg1660=)
c.4173C>T (p.Arg1391=)
c.474C>T (p.Arg158=)
c.4560C>T (p.Arg1520=)
c.3924C>T (p.Arg1308=)
c.714C>T (p.Arg238=)
5g.177260003T>ACA362302530NSD1c.4108T>A (p.Cys1370Ser)
n.4564T>A
c.4672T>A (p.Cys1558Ser)
n.4378T>A
n.5128T>A
c.4981T>A (p.Cys1661Ser)
c.4174T>A (p.Cys1392Ser)
c.475T>A (p.Cys159Ser)
c.4561T>A (p.Cys1521Ser)
c.3925T>A (p.Cys1309Ser)
c.715T>A (p.Cys239Ser)
5g.177260003T>CCA362302533NSD1c.4108T>C (p.Cys1370Arg)
n.4564T>C
c.4672T>C (p.Cys1558Arg)
n.4378T>C
n.5128T>C
c.4981T>C (p.Cys1661Arg)
c.4174T>C (p.Cys1392Arg)
c.475T>C (p.Cys159Arg)
c.4561T>C (p.Cys1521Arg)
c.3925T>C (p.Cys1309Arg)
c.715T>C (p.Cys239Arg)
5g.177260003T>GCA362302534NSD1c.4108T>G (p.Cys1370Gly)
n.4564T>G
c.4672T>G (p.Cys1558Gly)
n.4378T>G
n.5128T>G
c.4981T>G (p.Cys1661Gly)
c.4174T>G (p.Cys1392Gly)
c.475T>G (p.Cys159Gly)
c.4561T>G (p.Cys1521Gly)
c.3925T>G (p.Cys1309Gly)
c.715T>G (p.Cys239Gly)
5g.177260004G>ACA362302539NSD1c.4109G>A (p.Cys1370Tyr)
n.4565G>A
c.4673G>A (p.Cys1558Tyr)
n.4379G>A
n.5129G>A
c.4982G>A (p.Cys1661Tyr)
c.4175G>A (p.Cys1392Tyr)
c.476G>A (p.Cys159Tyr)
c.4562G>A (p.Cys1521Tyr)
c.3926G>A (p.Cys1309Tyr)
c.716G>A (p.Cys239Tyr)
 dbSNP
5g.177260004G>CCA362302541NSD1c.4109G>C (p.Cys1370Ser)
n.4565G>C
c.4673G>C (p.Cys1558Ser)
n.4379G>C
n.5129G>C
c.4982G>C (p.Cys1661Ser)
c.4175G>C (p.Cys1392Ser)
c.476G>C (p.Cys159Ser)
c.4562G>C (p.Cys1521Ser)
c.3926G>C (p.Cys1309Ser)
c.716G>C (p.Cys239Ser)
5g.177260004G>TCA362302543NSD1c.4109G>T (p.Cys1370Phe)
n.4565G>T
c.4673G>T (p.Cys1558Phe)
n.4379G>T
n.5129G>T
c.4982G>T (p.Cys1661Phe)
c.4175G>T (p.Cys1392Phe)
c.476G>T (p.Cys159Phe)
c.4562G>T (p.Cys1521Phe)
c.3926G>T (p.Cys1309Phe)
c.716G>T (p.Cys239Phe)
5g.177260005T>ACA362302547NSD1c.4110T>A (p.Cys1370Ter)
n.4566T>A
c.4674T>A (p.Cys1558Ter)
n.4380T>A
n.5130T>A
c.4983T>A (p.Cys1661Ter)
c.4176T>A (p.Cys1392Ter)
c.477T>A (p.Cys159Ter)
c.4563T>A (p.Cys1521Ter)
c.3927T>A (p.Cys1309Ter)
c.717T>A (p.Cys239Ter)
5g.177260005T>CCA447726248NSD1c.4110T>C (p.Cys1370=)
n.4566T>C
c.4674T>C (p.Cys1558=)
n.4380T>C
n.5130T>C
c.4983T>C (p.Cys1661=)
c.4176T>C (p.Cys1392=)
c.477T>C (p.Cys159=)
c.4563T>C (p.Cys1521=)
c.3927T>C (p.Cys1309=)
c.717T>C (p.Cys239=)
5g.177260005T>GCA362302550NSD1c.4110T>G (p.Cys1370Trp)
n.4566T>G
c.4674T>G (p.Cys1558Trp)
n.4380T>G
n.5130T>G
c.4983T>G (p.Cys1661Trp)
c.4176T>G (p.Cys1392Trp)
c.477T>G (p.Cys159Trp)
c.4563T>G (p.Cys1521Trp)
c.3927T>G (p.Cys1309Trp)
c.717T>G (p.Cys239Trp)
5g.177260006G>ACA362302552NSD1c.4111G>A (p.Val1371Ile)
n.4567G>A
c.4675G>A (p.Val1559Ile)
n.4381G>A
n.5131G>A
c.4984G>A (p.Val1662Ile)
c.4177G>A (p.Val1393Ile)
c.478G>A (p.Val160Ile)
c.4564G>A (p.Val1522Ile)
c.3928G>A (p.Val1310Ile)
c.718G>A (p.Val240Ile)
5g.177260006G>CCA362302554NSD1c.4111G>C (p.Val1371Leu)
n.4567G>C
c.4675G>C (p.Val1559Leu)
n.4381G>C
n.5131G>C
c.4984G>C (p.Val1662Leu)
c.4177G>C (p.Val1393Leu)
c.478G>C (p.Val160Leu)
c.4564G>C (p.Val1522Leu)
c.3928G>C (p.Val1310Leu)
c.718G>C (p.Val240Leu)
5g.177260006G>TCA362302557NSD1c.4111G>T (p.Val1371Phe)
n.4567G>T
c.4675G>T (p.Val1559Phe)
n.4381G>T
n.5131G>T
c.4984G>T (p.Val1662Phe)
c.4177G>T (p.Val1393Phe)
c.478G>T (p.Val160Phe)
c.4564G>T (p.Val1522Phe)
c.3928G>T (p.Val1310Phe)
c.718G>T (p.Val240Phe)
5g.177260007T>ACA362302561NSD1c.4112T>A (p.Val1371Asp)
n.4568T>A
c.4676T>A (p.Val1559Asp)
n.4382T>A
n.5132T>A
c.4985T>A (p.Val1662Asp)
c.4178T>A (p.Val1393Asp)
c.479T>A (p.Val160Asp)
c.4565T>A (p.Val1522Asp)
c.3929T>A (p.Val1310Asp)
c.719T>A (p.Val240Asp)
5g.177260007T>CCA362302566NSD1c.4112T>C (p.Val1371Ala)
n.4568T>C
c.4676T>C (p.Val1559Ala)
n.4382T>C
n.5132T>C
c.4985T>C (p.Val1662Ala)
c.4178T>C (p.Val1393Ala)
c.479T>C (p.Val160Ala)
c.4565T>C (p.Val1522Ala)
c.3929T>C (p.Val1310Ala)
c.719T>C (p.Val240Ala)
5g.177260007T>GCA362302565NSD1c.4112T>G (p.Val1371Gly)
n.4568T>G
c.4676T>G (p.Val1559Gly)
n.4382T>G
n.5132T>G
c.4985T>G (p.Val1662Gly)
c.4178T>G (p.Val1393Gly)
c.479T>G (p.Val160Gly)
c.4565T>G (p.Val1522Gly)
c.3929T>G (p.Val1310Gly)
c.719T>G (p.Val240Gly)
5g.177260008C>ACA447726252NSD1c.4113C>A (p.Val1371=)
n.4569C>A
c.4677C>A (p.Val1559=)
n.4383C>A
n.5133C>A
c.4986C>A (p.Val1662=)
c.4179C>A (p.Val1393=)
c.480C>A (p.Val160=)
c.4566C>A (p.Val1522=)
c.3930C>A (p.Val1310=)
c.720C>A (p.Val240=)
5g.177260008C=CA1603527013NSD1c.4113C= (p.Val1371=)
n.4569C=
c.4677C= (p.Val1559=)
n.4383C=
n.5133C=
c.4986C= (p.Val1662=)
c.4179C= (p.Val1393=)
c.480C= (p.Val160=)
c.4566C= (p.Val1522=)
c.3930C= (p.Val1310=)
c.720C= (p.Val240=)
5g.177260008C>GCA447726253NSD1c.4113C>G (p.Val1371=)
n.4569C>G
c.4677C>G (p.Val1559=)
n.4383C>G
n.5133C>G
c.4986C>G (p.Val1662=)
c.4179C>G (p.Val1393=)
c.480C>G (p.Val160=)
c.4566C>G (p.Val1522=)
c.3930C>G (p.Val1310=)
c.720C>G (p.Val240=)
 dbSNP
5g.177260008C>TCA132830140NSD1c.4113C>T (p.Val1371=)
n.4569C>T
c.4677C>T (p.Val1559=)
n.4383C>T
n.5133C>T
c.4986C>T (p.Val1662=)
c.4179C>T (p.Val1393=)
c.480C>T (p.Val160=)
c.4566C>T (p.Val1522=)
c.3930C>T (p.Val1310=)
c.720C>T (p.Val240=)
 dbSNP gnomAD v3 gnomAD v4
5g.177260009C>ACA362302570NSD1c.4114C>A (p.Arg1372Ser)
n.4570C>A
c.4678C>A (p.Arg1560Ser)
n.4384C>A
n.5134C>A
c.4987C>A (p.Arg1663Ser)
c.4180C>A (p.Arg1394Ser)
c.481C>A (p.Arg161Ser)
c.4567C>A (p.Arg1523Ser)
c.3931C>A (p.Arg1311Ser)
c.721C>A (p.Arg241Ser)
5g.177260009C=CA1603527017NSD1c.4114C= (p.Arg1372=)
n.4570C=
c.4678C= (p.Arg1560=)
n.4384C=
n.5134C=
c.4987C= (p.Arg1663=)
c.4180C= (p.Arg1394=)
c.481C= (p.Arg161=)
c.4567C= (p.Arg1523=)
c.3931C= (p.Arg1311=)
c.721C= (p.Arg241=)
5g.177260009C>GCA362302572NSD1c.4114C>G (p.Arg1372Gly)
n.4570C>G
c.4678C>G (p.Arg1560Gly)
n.4384C>G
n.5134C>G
c.4987C>G (p.Arg1663Gly)
c.4180C>G (p.Arg1394Gly)
c.481C>G (p.Arg161Gly)
c.4567C>G (p.Arg1523Gly)
c.3931C>G (p.Arg1311Gly)
c.721C>G (p.Arg241Gly)
5g.177260009C>TCA294927NSD1c.4114C>T (p.Arg1372Cys)
n.4570C>T
c.4678C>T (p.Arg1560Cys)
n.4384C>T
n.5134C>T
c.4987C>T (p.Arg1663Cys)
c.4180C>T (p.Arg1394Cys)
c.481C>T (p.Arg161Cys)
c.4567C>T (p.Arg1523Cys)
c.3931C>T (p.Arg1311Cys)
c.721C>T (p.Arg241Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.177260010G>ACA362302577NSD1c.4115G>A (p.Arg1372His)
n.4571G>A
c.4679G>A (p.Arg1560His)
n.4385G>A
n.5135G>A
c.4988G>A (p.Arg1663His)
c.4181G>A (p.Arg1394His)
c.482G>A (p.Arg161His)
c.4568G>A (p.Arg1523His)
c.3932G>A (p.Arg1311His)
c.722G>A (p.Arg241His)
 ClinVar dbSNP
5g.177260010G>CCA362302579NSD1c.4115G>C (p.Arg1372Pro)
n.4571G>C
c.4679G>C (p.Arg1560Pro)
n.4385G>C
n.5135G>C
c.4988G>C (p.Arg1663Pro)
c.4181G>C (p.Arg1394Pro)
c.482G>C (p.Arg161Pro)
c.4568G>C (p.Arg1523Pro)
c.3932G>C (p.Arg1311Pro)
c.722G>C (p.Arg241Pro)
5g.177260010G=CA1603527026NSD1c.4115G= (p.Arg1372=)
n.4571G=
c.4679G= (p.Arg1560=)
n.4385G=
n.5135G=
c.4988G= (p.Arg1663=)
c.4181G= (p.Arg1394=)
c.482G= (p.Arg161=)
c.4568G= (p.Arg1523=)
c.3932G= (p.Arg1311=)
c.722G= (p.Arg241=)
5g.177260010G>TCA362302582NSD1c.4115G>T (p.Arg1372Leu)
n.4571G>T
c.4679G>T (p.Arg1560Leu)
n.4385G>T
n.5135G>T
c.4988G>T (p.Arg1663Leu)
c.4181G>T (p.Arg1394Leu)
c.482G>T (p.Arg161Leu)
c.4568G>T (p.Arg1523Leu)
c.3932G>T (p.Arg1311Leu)
c.722G>T (p.Arg241Leu)
5g.177260011C>ACA447726254NSD1c.4116C>A (p.Arg1372=)
n.4572C>A
c.4680C>A (p.Arg1560=)
n.4386C>A
n.5136C>A
c.4989C>A (p.Arg1663=)
c.4182C>A (p.Arg1394=)
c.483C>A (p.Arg161=)
c.4569C>A (p.Arg1523=)
c.3933C>A (p.Arg1311=)
c.723C>A (p.Arg241=)
5g.177260011C>GCA447726256NSD1c.4116C>G (p.Arg1372=)
n.4572C>G
c.4680C>G (p.Arg1560=)
n.4386C>G
n.5136C>G
c.4989C>G (p.Arg1663=)
c.4182C>G (p.Arg1394=)
c.483C>G (p.Arg161=)
c.4569C>G (p.Arg1523=)
c.3933C>G (p.Arg1311=)
c.723C>G (p.Arg241=)
5g.177260011C>TCA447726258NSD1c.4116C>T (p.Arg1372=)
n.4572C>T
c.4680C>T (p.Arg1560=)
n.4386C>T
n.5136C>T
c.4989C>T (p.Arg1663=)
c.4182C>T (p.Arg1394=)
c.483C>T (p.Arg161=)
c.4569C>T (p.Arg1523=)
c.3933C>T (p.Arg1311=)
c.723C>T (p.Arg241=)
5g.177260012T>ACA362302584NSD1c.4117T>A (p.Cys1373Ser)
n.4573T>A
c.4681T>A (p.Cys1561Ser)
n.4387T>A
n.5137T>A
c.4990T>A (p.Cys1664Ser)
c.4183T>A (p.Cys1395Ser)
c.484T>A (p.Cys162Ser)
c.4570T>A (p.Cys1524Ser)
c.3934T>A (p.Cys1312Ser)
c.724T>A (p.Cys242Ser)
5g.177260012T>CCA362302588NSD1c.4117T>C (p.Cys1373Arg)
n.4573T>C
c.4681T>C (p.Cys1561Arg)
n.4387T>C
n.5137T>C
c.4990T>C (p.Cys1664Arg)
c.4183T>C (p.Cys1395Arg)
c.484T>C (p.Cys162Arg)
c.4570T>C (p.Cys1524Arg)
c.3934T>C (p.Cys1312Arg)
c.724T>C (p.Cys242Arg)
5g.177260012T>GCA362302591NSD1c.4117T>G (p.Cys1373Gly)
n.4573T>G
c.4681T>G (p.Cys1561Gly)
n.4387T>G
n.5137T>G
c.4990T>G (p.Cys1664Gly)
c.4183T>G (p.Cys1395Gly)
c.484T>G (p.Cys162Gly)
c.4570T>G (p.Cys1524Gly)
c.3934T>G (p.Cys1312Gly)
c.724T>G (p.Cys242Gly)
5g.177260013G>ACA362302595NSD1c.4118G>A (p.Cys1373Tyr)
n.4574G>A
c.4682G>A (p.Cys1561Tyr)
n.4388G>A
n.5138G>A
c.4991G>A (p.Cys1664Tyr)
c.4184G>A (p.Cys1395Tyr)
c.485G>A (p.Cys162Tyr)
c.4571G>A (p.Cys1524Tyr)
c.3935G>A (p.Cys1312Tyr)
c.725G>A (p.Cys242Tyr)
 dbSNP
5g.177260013G>CCA362302596NSD1c.4118G>C (p.Cys1373Ser)
n.4574G>C
c.4682G>C (p.Cys1561Ser)
n.4388G>C
n.5138G>C
c.4991G>C (p.Cys1664Ser)
c.4184G>C (p.Cys1395Ser)
c.485G>C (p.Cys162Ser)
c.4571G>C (p.Cys1524Ser)
c.3935G>C (p.Cys1312Ser)
c.725G>C (p.Cys242Ser)
5g.177260013G>TCA362302599NSD1c.4118G>T (p.Cys1373Phe)
n.4574G>T
c.4682G>T (p.Cys1561Phe)
n.4388G>T
n.5138G>T
c.4991G>T (p.Cys1664Phe)
c.4184G>T (p.Cys1395Phe)
c.485G>T (p.Cys162Phe)
c.4571G>T (p.Cys1524Phe)
c.3935G>T (p.Cys1312Phe)
c.725G>T (p.Cys242Phe)
5g.177260014T>ACA362302602NSD1c.4119T>A (p.Cys1373Ter)
n.4575T>A
c.4683T>A (p.Cys1561Ter)
n.4389T>A
n.5139T>A
c.4992T>A (p.Cys1664Ter)
c.4185T>A (p.Cys1395Ter)
c.486T>A (p.Cys162Ter)
c.4572T>A (p.Cys1524Ter)
c.3936T>A (p.Cys1312Ter)
c.726T>A (p.Cys242Ter)
5g.177260014T>CCA447726262NSD1c.4119T>C (p.Cys1373=)
n.4575T>C
c.4683T>C (p.Cys1561=)
n.4389T>C
n.5139T>C
c.4992T>C (p.Cys1664=)
c.4185T>C (p.Cys1395=)
c.486T>C (p.Cys162=)
c.4572T>C (p.Cys1524=)
c.3936T>C (p.Cys1312=)
c.726T>C (p.Cys242=)
5g.177260014T>GCA362302605NSD1c.4119T>G (p.Cys1373Trp)
n.4575T>G
c.4683T>G (p.Cys1561Trp)
n.4389T>G
n.5139T>G
c.4992T>G (p.Cys1664Trp)
c.4185T>G (p.Cys1395Trp)
c.486T>G (p.Cys162Trp)
c.4572T>G (p.Cys1524Trp)
c.3936T>G (p.Cys1312Trp)
c.726T>G (p.Cys242Trp)
5g.177260015C>ACA362302615NSD1c.4120C>A (p.Pro1374Thr)
n.4576C>A
c.4684C>A (p.Pro1562Thr)
n.4390C>A
n.5140C>A
c.4993C>A (p.Pro1665Thr)
c.4186C>A (p.Pro1396Thr)
c.487C>A (p.Pro163Thr)
c.4573C>A (p.Pro1525Thr)
c.3937C>A (p.Pro1313Thr)
c.727C>A (p.Pro243Thr)
5g.177260015C>GCA362302612NSD1c.4120C>G (p.Pro1374Ala)
n.4576C>G
c.4684C>G (p.Pro1562Ala)
n.4390C>G
n.5140C>G
c.4993C>G (p.Pro1665Ala)
c.4186C>G (p.Pro1396Ala)
c.487C>G (p.Pro163Ala)
c.4573C>G (p.Pro1525Ala)
c.3937C>G (p.Pro1313Ala)
c.727C>G (p.Pro243Ala)
5g.177260015C>TCA362302609NSD1c.4120C>T (p.Pro1374Ser)
n.4576C>T
c.4684C>T (p.Pro1562Ser)
n.4390C>T
n.5140C>T
c.4993C>T (p.Pro1665Ser)
c.4186C>T (p.Pro1396Ser)
c.487C>T (p.Pro163Ser)
c.4573C>T (p.Pro1525Ser)
c.3937C>T (p.Pro1313Ser)
c.727C>T (p.Pro243Ser)
5g.177260016C>ACA362302618NSD1c.4121C>A (p.Pro1374His)
n.4577C>A
c.4685C>A (p.Pro1562His)
n.4391C>A
n.5141C>A
c.4994C>A (p.Pro1665His)
c.4187C>A (p.Pro1396His)
c.488C>A (p.Pro163His)
c.4574C>A (p.Pro1525His)
c.3938C>A (p.Pro1313His)
c.728C>A (p.Pro243His)
 dbSNP
5g.177260016C>GCA362302620NSD1c.4121C>G (p.Pro1374Arg)
n.4577C>G
c.4685C>G (p.Pro1562Arg)
n.4391C>G
n.5141C>G
c.4994C>G (p.Pro1665Arg)
c.4187C>G (p.Pro1396Arg)
c.488C>G (p.Pro163Arg)
c.4574C>G (p.Pro1525Arg)
c.3938C>G (p.Pro1313Arg)
c.728C>G (p.Pro243Arg)
5g.177260016C>TCA362302623NSD1c.4121C>T (p.Pro1374Leu)
n.4577C>T
c.4685C>T (p.Pro1562Leu)
n.4391C>T
n.5141C>T
c.4994C>T (p.Pro1665Leu)
c.4187C>T (p.Pro1396Leu)
c.488C>T (p.Pro163Leu)
c.4574C>T (p.Pro1525Leu)
c.3938C>T (p.Pro1313Leu)
c.728C>T (p.Pro243Leu)
 ClinVar dbSNP
5g.177260017T>ACA447726266NSD1c.4122T>A (p.Pro1374=)
n.4578T>A
c.4686T>A (p.Pro1562=)
n.4392T>A
n.5142T>A
c.4995T>A (p.Pro1665=)
c.4188T>A (p.Pro1396=)
c.489T>A (p.Pro163=)
c.4575T>A (p.Pro1525=)
c.3939T>A (p.Pro1313=)
c.729T>A (p.Pro243=)
5g.177260017T>CCA447726267NSD1c.4122T>C (p.Pro1374=)
n.4578T>C
c.4686T>C (p.Pro1562=)
n.4392T>C
n.5142T>C
c.4995T>C (p.Pro1665=)
c.4188T>C (p.Pro1396=)
c.489T>C (p.Pro163=)
c.4575T>C (p.Pro1525=)
c.3939T>C (p.Pro1313=)
c.729T>C (p.Pro243=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.177260017T>GCA447726269NSD1c.4122T>G (p.Pro1374=)
n.4578T>G
c.4686T>G (p.Pro1562=)
n.4392T>G
n.5142T>G
c.4995T>G (p.Pro1665=)
c.4188T>G (p.Pro1396=)
c.489T>G (p.Pro163=)
c.4575T>G (p.Pro1525=)
c.3939T>G (p.Pro1313=)
c.729T>G (p.Pro243=)
5g.177260017T=CA1603527033NSD1c.4122T= (p.Pro1374=)
n.4578T=
c.4686T= (p.Pro1562=)
n.4392T=
n.5142T=
c.4995T= (p.Pro1665=)
c.4188T= (p.Pro1396=)
c.489T= (p.Pro163=)
c.4575T= (p.Pro1525=)
c.3939T= (p.Pro1313=)
c.729T= (p.Pro243=)
5g.177260018G>ACA362302626NSD1c.4123G>A (p.Val1375Met)
n.4579G>A
c.4687G>A (p.Val1563Met)
n.4393G>A
n.5143G>A
c.4996G>A (p.Val1666Met)
c.4189G>A (p.Val1397Met)
c.490G>A (p.Val164Met)
c.4576G>A (p.Val1526Met)
c.3940G>A (p.Val1314Met)
c.730G>A (p.Val244Met)
 dbSNP
5g.177260018G>CCA362302629NSD1c.4123G>C (p.Val1375Leu)
n.4579G>C
c.4687G>C (p.Val1563Leu)
n.4393G>C
n.5143G>C
c.4996G>C (p.Val1666Leu)
c.4189G>C (p.Val1397Leu)
c.490G>C (p.Val164Leu)
c.4576G>C (p.Val1526Leu)
c.3940G>C (p.Val1314Leu)
c.730G>C (p.Val244Leu)
5g.177260018G>TCA362302632NSD1c.4123G>T (p.Val1375Leu)
n.4579G>T
c.4687G>T (p.Val1563Leu)
n.4393G>T
n.5143G>T
c.4996G>T (p.Val1666Leu)
c.4189G>T (p.Val1397Leu)
c.490G>T (p.Val164Leu)
c.4576G>T (p.Val1526Leu)
c.3940G>T (p.Val1314Leu)
c.730G>T (p.Val244Leu)
5g.177260019T>ACA362302636NSD1c.4124T>A (p.Val1375Glu)
n.4580T>A
c.4688T>A (p.Val1563Glu)
n.4394T>A
n.5144T>A
c.4997T>A (p.Val1666Glu)
c.4190T>A (p.Val1397Glu)
c.491T>A (p.Val164Glu)
c.4577T>A (p.Val1526Glu)
c.3941T>A (p.Val1314Glu)
c.731T>A (p.Val244Glu)
5g.177260019T>CCA362302637NSD1c.4124T>C (p.Val1375Ala)
n.4580T>C
c.4688T>C (p.Val1563Ala)
n.4394T>C
n.5144T>C
c.4997T>C (p.Val1666Ala)
c.4190T>C (p.Val1397Ala)
c.491T>C (p.Val164Ala)
c.4577T>C (p.Val1526Ala)
c.3941T>C (p.Val1314Ala)
c.731T>C (p.Val244Ala)
5g.177260019T>GCA362302640NSD1c.4124T>G (p.Val1375Gly)
n.4580T>G
c.4688T>G (p.Val1563Gly)
n.4394T>G
n.5144T>G
c.4997T>G (p.Val1666Gly)
c.4190T>G (p.Val1397Gly)
c.491T>G (p.Val164Gly)
c.4577T>G (p.Val1526Gly)
c.3941T>G (p.Val1314Gly)
c.731T>G (p.Val244Gly)
5g.177260020G>ACA447726273NSD1c.4125G>A (p.Val1375=)
n.4581G>A
c.4689G>A (p.Val1563=)
n.4395G>A
n.5145G>A
c.4998G>A (p.Val1666=)
c.4191G>A (p.Val1397=)
c.492G>A (p.Val164=)
c.4578G>A (p.Val1526=)
c.3942G>A (p.Val1314=)
c.732G>A (p.Val244=)
5g.177260020G>CCA447726275NSD1c.4125G>C (p.Val1375=)
n.4581G>C
c.4689G>C (p.Val1563=)
n.4395G>C
n.5145G>C
c.4998G>C (p.Val1666=)
c.4191G>C (p.Val1397=)
c.492G>C (p.Val164=)
c.4578G>C (p.Val1526=)
c.3942G>C (p.Val1314=)
c.732G>C (p.Val244=)
5g.177260020G>TCA447726274NSD1c.4125G>T (p.Val1375=)
n.4581G>T
c.4689G>T (p.Val1563=)
n.4395G>T
n.5145G>T
c.4998G>T (p.Val1666=)
c.4191G>T (p.Val1397=)
c.492G>T (p.Val164=)
c.4578G>T (p.Val1526=)
c.3942G>T (p.Val1314=)
c.732G>T (p.Val244=)
5g.177260021G>ACA362302643NSD1c.4126G>A (p.Ala1376Thr)
n.4582G>A
c.4690G>A (p.Ala1564Thr)
n.4396G>A
n.5146G>A
c.4999G>A (p.Ala1667Thr)
c.4192G>A (p.Ala1398Thr)
c.493G>A (p.Ala165Thr)
c.4579G>A (p.Ala1527Thr)
c.3943G>A (p.Ala1315Thr)
c.733G>A (p.Ala245Thr)
 dbSNP
5g.177260021G>CCA362302646NSD1c.4126G>C (p.Ala1376Pro)
n.4582G>C
c.4690G>C (p.Ala1564Pro)
n.4396G>C
n.5146G>C
c.4999G>C (p.Ala1667Pro)
c.4192G>C (p.Ala1398Pro)
c.493G>C (p.Ala165Pro)
c.4579G>C (p.Ala1527Pro)
c.3943G>C (p.Ala1315Pro)
c.733G>C (p.Ala245Pro)
5g.177260021G>TCA362302650NSD1c.4126G>T (p.Ala1376Ser)
n.4582G>T
c.4690G>T (p.Ala1564Ser)
n.4396G>T
n.5146G>T
c.4999G>T (p.Ala1667Ser)
c.4192G>T (p.Ala1398Ser)
c.493G>T (p.Ala165Ser)
c.4579G>T (p.Ala1527Ser)
c.3943G>T (p.Ala1315Ser)
c.733G>T (p.Ala245Ser)
5g.177260022C>ACA362302653NSD1c.4127C>A (p.Ala1376Glu)
n.4583C>A
c.4691C>A (p.Ala1564Glu)
n.4397C>A
n.5147C>A
c.5000C>A (p.Ala1667Glu)
c.4193C>A (p.Ala1398Glu)
c.494C>A (p.Ala165Glu)
c.4580C>A (p.Ala1527Glu)
c.3944C>A (p.Ala1315Glu)
c.734C>A (p.Ala245Glu)
5g.177260022C>GCA362302656NSD1c.4127C>G (p.Ala1376Gly)
n.4583C>G
c.4691C>G (p.Ala1564Gly)
n.4397C>G
n.5147C>G
c.5000C>G (p.Ala1667Gly)
c.4193C>G (p.Ala1398Gly)
c.494C>G (p.Ala165Gly)
c.4580C>G (p.Ala1527Gly)
c.3944C>G (p.Ala1315Gly)
c.734C>G (p.Ala245Gly)
5g.177260022C>TCA362302659NSD1c.4127C>T (p.Ala1376Val)
n.4583C>T
c.4691C>T (p.Ala1564Val)
n.4397C>T
n.5147C>T
c.5000C>T (p.Ala1667Val)
c.4193C>T (p.Ala1398Val)
c.494C>T (p.Ala165Val)
c.4580C>T (p.Ala1527Val)
c.3944C>T (p.Ala1315Val)
c.734C>T (p.Ala245Val)
 dbSNP
5g.177260023A=CA1603527040NSD1c.4128A= (p.Ala1376=)
n.4584A=
c.4692A= (p.Ala1564=)
n.4398A=
n.5148A=
c.5001A= (p.Ala1667=)
c.4194A= (p.Ala1398=)
c.495A= (p.Ala165=)
c.4581A= (p.Ala1527=)
c.3945A= (p.Ala1315=)
c.735A= (p.Ala245=)
5g.177260023A>CCA447726277NSD1c.4128A>C (p.Ala1376=)
n.4584A>C
c.4692A>C (p.Ala1564=)
n.4398A>C
n.5148A>C
c.5001A>C (p.Ala1667=)
c.4194A>C (p.Ala1398=)
c.495A>C (p.Ala165=)
c.4581A>C (p.Ala1527=)
c.3945A>C (p.Ala1315=)
c.735A>C (p.Ala245=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.177260023A>GCA447726278NSD1c.4128A>G (p.Ala1376=)
n.4584A>G
c.4692A>G (p.Ala1564=)
n.4398A>G
n.5148A>G
c.5001A>G (p.Ala1667=)
c.4194A>G (p.Ala1398=)
c.495A>G (p.Ala165=)
c.4581A>G (p.Ala1527=)
c.3945A>G (p.Ala1315=)
c.735A>G (p.Ala245=)
5g.177260023A>TCA447726279NSD1c.4128A>T (p.Ala1376=)
n.4584A>T
c.4692A>T (p.Ala1564=)
n.4398A>T
n.5148A>T
c.5001A>T (p.Ala1667=)
c.4194A>T (p.Ala1398=)
c.495A>T (p.Ala165=)
c.4581A>T (p.Ala1527=)
c.3945A>T (p.Ala1315=)
c.735A>T (p.Ala245=)
5g.177260024T>ACA362302667NSD1c.4129T>A (p.Tyr1377Asn)
n.4585T>A
c.4693T>A (p.Tyr1565Asn)
n.4399T>A
n.5149T>A
c.5002T>A (p.Tyr1668Asn)
c.4195T>A (p.Tyr1399Asn)
c.496T>A (p.Tyr166Asn)
c.4582T>A (p.Tyr1528Asn)
c.3946T>A (p.Tyr1316Asn)
c.736T>A (p.Tyr246Asn)
5g.177260024T>CCA362302668NSD1c.4129T>C (p.Tyr1377His)
n.4585T>C
c.4693T>C (p.Tyr1565His)
n.4399T>C
n.5149T>C
c.5002T>C (p.Tyr1668His)
c.4195T>C (p.Tyr1399His)
c.496T>C (p.Tyr166His)
c.4582T>C (p.Tyr1528His)
c.3946T>C (p.Tyr1316His)
c.736T>C (p.Tyr246His)
5g.177260024T>GCA362302664NSD1c.4129T>G (p.Tyr1377Asp)
n.4585T>G
c.4693T>G (p.Tyr1565Asp)
n.4399T>G
n.5149T>G
c.5002T>G (p.Tyr1668Asp)
c.4195T>G (p.Tyr1399Asp)
c.496T>G (p.Tyr166Asp)
c.4582T>G (p.Tyr1528Asp)
c.3946T>G (p.Tyr1316Asp)
c.736T>G (p.Tyr246Asp)
5g.177260025A>CCA362302675NSD1c.4130A>C (p.Tyr1377Ser)
n.4586A>C
c.4694A>C (p.Tyr1565Ser)
n.4400A>C
n.5150A>C
c.5003A>C (p.Tyr1668Ser)
c.4196A>C (p.Tyr1399Ser)
c.497A>C (p.Tyr166Ser)
c.4583A>C (p.Tyr1528Ser)
c.3947A>C (p.Tyr1316Ser)
c.737A>C (p.Tyr246Ser)
5g.177260025A>GCA362302676NSD1c.4130A>G (p.Tyr1377Cys)
n.4586A>G
c.4694A>G (p.Tyr1565Cys)
n.4400A>G
n.5150A>G
c.5003A>G (p.Tyr1668Cys)
c.4196A>G (p.Tyr1399Cys)
c.497A>G (p.Tyr166Cys)
c.4583A>G (p.Tyr1528Cys)
c.3947A>G (p.Tyr1316Cys)
c.737A>G (p.Tyr246Cys)
5g.177260025A>TCA362302680NSD1c.4130A>T (p.Tyr1377Phe)
n.4586A>T
c.4694A>T (p.Tyr1565Phe)
n.4400A>T
n.5150A>T
c.5003A>T (p.Tyr1668Phe)
c.4196A>T (p.Tyr1399Phe)
c.497A>T (p.Tyr166Phe)
c.4583A>T (p.Tyr1528Phe)
c.3947A>T (p.Tyr1316Phe)
c.737A>T (p.Tyr246Phe)
5g.177260026C>ACA362302683NSD1c.4131C>A (p.Tyr1377Ter)
n.4587C>A
c.4695C>A (p.Tyr1565Ter)
n.4401C>A
n.5151C>A
c.5004C>A (p.Tyr1668Ter)
c.4197C>A (p.Tyr1399Ter)
c.498C>A (p.Tyr166Ter)
c.4584C>A (p.Tyr1528Ter)
c.3948C>A (p.Tyr1316Ter)
c.738C>A (p.Tyr246Ter)
5g.177260026C>GCA362302685NSD1c.4131C>G (p.Tyr1377Ter)
n.4587C>G
c.4695C>G (p.Tyr1565Ter)
n.4401C>G
n.5151C>G
c.5004C>G (p.Tyr1668Ter)
c.4197C>G (p.Tyr1399Ter)
c.498C>G (p.Tyr166Ter)
c.4584C>G (p.Tyr1528Ter)
c.3948C>G (p.Tyr1316Ter)
c.738C>G (p.Tyr246Ter)
5g.177260026C>TCA447726284NSD1c.4131C>T (p.Tyr1377=)
n.4587C>T
c.4695C>T (p.Tyr1565=)
n.4401C>T
n.5151C>T
c.5004C>T (p.Tyr1668=)
c.4197C>T (p.Tyr1399=)
c.498C>T (p.Tyr166=)
c.4584C>T (p.Tyr1528=)
c.3948C>T (p.Tyr1316=)
c.738C>T (p.Tyr246=)
 COSMIC COSMIC
5g.177260027C>ACA362302697NSD1c.4132C>A (p.His1378Asn)
n.4588C>A
c.4696C>A (p.His1566Asn)
n.4402C>A
n.5152C>A
c.5005C>A (p.His1669Asn)
c.4198C>A (p.His1400Asn)
c.499C>A (p.His167Asn)
c.4585C>A (p.His1529Asn)
c.3949C>A (p.His1317Asn)
c.739C>A (p.His247Asn)
5g.177260027C>GCA362302694NSD1c.4132C>G (p.His1378Asp)
n.4588C>G
c.4696C>G (p.His1566Asp)
n.4402C>G
n.5152C>G
c.5005C>G (p.His1669Asp)
c.4198C>G (p.His1400Asp)
c.499C>G (p.His167Asp)
c.4585C>G (p.His1529Asp)
c.3949C>G (p.His1317Asp)
c.739C>G (p.His247Asp)
5g.177260027C>TCA362302690NSD1c.4132C>T (p.His1378Tyr)
n.4588C>T
c.4696C>T (p.His1566Tyr)
n.4402C>T
n.5152C>T
c.5005C>T (p.His1669Tyr)
c.4198C>T (p.His1400Tyr)
c.499C>T (p.His167Tyr)
c.4585C>T (p.His1529Tyr)
c.3949C>T (p.His1317Tyr)
c.739C>T (p.His247Tyr)
 dbSNP COSMIC COSMIC
5g.177260028A>CCA362302700NSD1c.4133A>C (p.His1378Pro)
n.4589A>C
c.4697A>C (p.His1566Pro)
n.4403A>C
n.5153A>C
c.5006A>C (p.His1669Pro)
c.4199A>C (p.His1400Pro)
c.500A>C (p.His167Pro)
c.4586A>C (p.His1529Pro)
c.3950A>C (p.His1317Pro)
c.740A>C (p.His247Pro)
5g.177260028A>GCA362302703NSD1c.4133A>G (p.His1378Arg)
n.4589A>G
c.4697A>G (p.His1566Arg)
n.4403A>G
n.5153A>G
c.5006A>G (p.His1669Arg)
c.4199A>G (p.His1400Arg)
c.500A>G (p.His167Arg)
c.4586A>G (p.His1529Arg)
c.3950A>G (p.His1317Arg)
c.740A>G (p.His247Arg)
5g.177260028A>TCA362302705NSD1c.4133A>T (p.His1378Leu)
n.4589A>T
c.4697A>T (p.His1566Leu)
n.4403A>T
n.5153A>T
c.5006A>T (p.His1669Leu)
c.4199A>T (p.His1400Leu)
c.500A>T (p.His167Leu)
c.4586A>T (p.His1529Leu)
c.3950A>T (p.His1317Leu)
c.740A>T (p.His247Leu)
5g.177260029C>ACA362302708NSD1c.4134C>A (p.His1378Gln)
n.4590C>A
c.4698C>A (p.His1566Gln)
n.4404C>A
n.5154C>A
c.5007C>A (p.His1669Gln)
c.4200C>A (p.His1400Gln)
c.501C>A (p.His167Gln)
c.4587C>A (p.His1529Gln)
c.3951C>A (p.His1317Gln)
c.741C>A (p.His247Gln)
5g.177260029C=CA1603527053NSD1c.4134C= (p.His1378=)
n.4590C=
c.4698C= (p.His1566=)
n.4404C=
n.5154C=
c.5007C= (p.His1669=)
c.4200C= (p.His1400=)
c.501C= (p.His167=)
c.4587C= (p.His1529=)
c.3951C= (p.His1317=)
c.741C= (p.His247=)
5g.177260029C>GCA362302709NSD1c.4134C>G (p.His1378Gln)
n.4590C>G
c.4698C>G (p.His1566Gln)
n.4404C>G
n.5154C>G
c.5007C>G (p.His1669Gln)
c.4200C>G (p.His1400Gln)
c.501C>G (p.His167Gln)
c.4587C>G (p.His1529Gln)
c.3951C>G (p.His1317Gln)
c.741C>G (p.His247Gln)
 ClinVar dbSNP
5g.177260029C>TCA3577755NSD1c.4134C>T (p.His1378=)
n.4590C>T
c.4698C>T (p.His1566=)
n.4404C>T
n.5154C>T
c.5007C>T (p.His1669=)
c.4200C>T (p.His1400=)
c.501C>T (p.His167=)
c.4587C>T (p.His1529=)
c.3951C>T (p.His1317=)
c.741C>T (p.His247=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.177260030G>ACA362302714NSD1c.4135G>A (p.Ala1379Thr)
n.4591G>A
c.4699G>A (p.Ala1567Thr)
n.4405G>A
n.5155G>A
c.5008G>A (p.Ala1670Thr)
c.4201G>A (p.Ala1401Thr)
c.502G>A (p.Ala168Thr)
c.4588G>A (p.Ala1530Thr)
c.3952G>A (p.Ala1318Thr)
c.742G>A (p.Ala248Thr)
 dbSNP gnomAD v2 gnomAD v4
5g.177260030G>CCA362302719NSD1c.4135G>C (p.Ala1379Pro)
n.4591G>C
c.4699G>C (p.Ala1567Pro)
n.4405G>C
n.5155G>C
c.5008G>C (p.Ala1670Pro)
c.4201G>C (p.Ala1401Pro)
c.502G>C (p.Ala168Pro)
c.4588G>C (p.Ala1530Pro)
c.3952G>C (p.Ala1318Pro)
c.742G>C (p.Ala248Pro)
5g.177260030G=CA1603527058NSD1c.4135G= (p.Ala1379=)
n.4591G=
c.4699G= (p.Ala1567=)
n.4405G=
n.5155G=
c.5008G= (p.Ala1670=)
c.4201G= (p.Ala1401=)
c.502G= (p.Ala168=)
c.4588G= (p.Ala1530=)
c.3952G= (p.Ala1318=)
c.742G= (p.Ala248=)
5g.177260030G>TCA362302717NSD1c.4135G>T (p.Ala1379Ser)
n.4591G>T
c.4699G>T (p.Ala1567Ser)
n.4405G>T
n.5155G>T
c.5008G>T (p.Ala1670Ser)
c.4201G>T (p.Ala1401Ser)
c.502G>T (p.Ala168Ser)
c.4588G>T (p.Ala1530Ser)
c.3952G>T (p.Ala1318Ser)
c.742G>T (p.Ala248Ser)
5g.177260030dupCA2695205807NSD1c.4135dup (p.Ala1379GlyfsTer3)
n.4591dup
c.4699dup (p.Ala1567GlyfsTer3)
n.4405dup
n.5155dup
c.5008dup (p.Ala1670GlyfsTer3)
c.4201dup (p.Ala1401GlyfsTer3)
c.502dup (p.Ala168GlyfsTer3)
c.4588dup (p.Ala1530GlyfsTer3)
c.3952dup (p.Ala1318GlyfsTer3)
c.742dup (p.Ala248GlyfsTer3)
5g.177260031C>ACA362302725NSD1c.4136C>A (p.Ala1379Asp)
n.4592C>A
c.4700C>A (p.Ala1567Asp)
n.4406C>A
n.5156C>A
c.5009C>A (p.Ala1670Asp)
c.4202C>A (p.Ala1401Asp)
c.503C>A (p.Ala168Asp)
c.4589C>A (p.Ala1530Asp)
c.3953C>A (p.Ala1318Asp)
c.743C>A (p.Ala248Asp)
5g.177260031C>GCA362302727NSD1c.4136C>G (p.Ala1379Gly)
n.4592C>G
c.4700C>G (p.Ala1567Gly)
n.4406C>G
n.5156C>G
c.5009C>G (p.Ala1670Gly)
c.4202C>G (p.Ala1401Gly)
c.503C>G (p.Ala168Gly)
c.4589C>G (p.Ala1530Gly)
c.3953C>G (p.Ala1318Gly)
c.743C>G (p.Ala248Gly)
 ClinVar gnomAD v4
5g.177260031C>TCA362302729NSD1c.4136C>T (p.Ala1379Val)
n.4592C>T
c.4700C>T (p.Ala1567Val)
n.4406C>T
n.5156C>T
c.5009C>T (p.Ala1670Val)
c.4202C>T (p.Ala1401Val)
c.503C>T (p.Ala168Val)
c.4589C>T (p.Ala1530Val)
c.3953C>T (p.Ala1318Val)
c.743C>T (p.Ala248Val)
5g.177260032C>ACA447726288NSD1c.4137C>A (p.Ala1379=)
n.4593C>A
c.4701C>A (p.Ala1567=)
n.4407C>A
n.5157C>A
c.5010C>A (p.Ala1670=)
c.4203C>A (p.Ala1401=)
c.504C>A (p.Ala168=)
c.4590C>A (p.Ala1530=)
c.3954C>A (p.Ala1318=)
c.744C>A (p.Ala248=)
5g.177260032C=CA1603527063NSD1c.4137C= (p.Ala1379=)
n.4593C=
c.4701C= (p.Ala1567=)
n.4407C=
n.5157C=
c.5010C= (p.Ala1670=)
c.4203C= (p.Ala1401=)
c.504C= (p.Ala168=)
c.4590C= (p.Ala1530=)
c.3954C= (p.Ala1318=)
c.744C= (p.Ala248=)
5g.177260032C>GCA447726289NSD1c.4137C>G (p.Ala1379=)
n.4593C>G
c.4701C>G (p.Ala1567=)
n.4407C>G
n.5157C>G
c.5010C>G (p.Ala1670=)
c.4203C>G (p.Ala1401=)
c.504C>G (p.Ala168=)
c.4590C>G (p.Ala1530=)
c.3954C>G (p.Ala1318=)
c.744C>G (p.Ala248=)
5g.177260032C>TCA447726290NSD1c.4137C>T (p.Ala1379=)
n.4593C>T
c.4701C>T (p.Ala1567=)
n.4407C>T
n.5157C>T
c.5010C>T (p.Ala1670=)
c.4203C>T (p.Ala1401=)
c.504C>T (p.Ala168=)
c.4590C>T (p.Ala1530=)
c.3954C>T (p.Ala1318=)
c.744C>T (p.Ala248=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.177260033A>CCA362302733NSD1c.4138A>C (p.Asn1380His)
n.4594A>C
c.4702A>C (p.Asn1568His)
n.4408A>C
n.5158A>C
c.5011A>C (p.Asn1671His)
c.4204A>C (p.Asn1402His)
c.505A>C (p.Asn169His)
c.4591A>C (p.Asn1531His)
c.3955A>C (p.Asn1319His)
c.745A>C (p.Asn249His)
5g.177260033A>GCA362302737NSD1c.4138A>G (p.Asn1380Asp)
n.4594A>G
c.4702A>G (p.Asn1568Asp)
n.4408A>G
n.5158A>G
c.5011A>G (p.Asn1671Asp)
c.4204A>G (p.Asn1402Asp)
c.505A>G (p.Asn169Asp)
c.4591A>G (p.Asn1531Asp)
c.3955A>G (p.Asn1319Asp)
c.745A>G (p.Asn249Asp)
5g.177260033A>TCA362302739NSD1c.4138A>T (p.Asn1380Tyr)
n.4594A>T
c.4702A>T (p.Asn1568Tyr)
n.4408A>T
n.5158A>T
c.5011A>T (p.Asn1671Tyr)
c.4204A>T (p.Asn1402Tyr)
c.505A>T (p.Asn169Tyr)
c.4591A>T (p.Asn1531Tyr)
c.3955A>T (p.Asn1319Tyr)
c.745A>T (p.Asn249Tyr)
5g.177260034A=CA1603527068NSD1c.4139A= (p.Asn1380=)
n.4595A=
c.4703A= (p.Asn1568=)
n.4409A=
n.5159A=
c.5012A= (p.Asn1671=)
c.4205A= (p.Asn1402=)
c.506A= (p.Asn169=)
c.4592A= (p.Asn1531=)
c.3956A= (p.Asn1319=)
c.746A= (p.Asn249=)
5g.177260034A>CCA362302743NSD1c.4139A>C (p.Asn1380Thr)
n.4595A>C
c.4703A>C (p.Asn1568Thr)
n.4409A>C
n.5159A>C
c.5012A>C (p.Asn1671Thr)
c.4205A>C (p.Asn1402Thr)
c.506A>C (p.Asn169Thr)
c.4592A>C (p.Asn1531Thr)
c.3956A>C (p.Asn1319Thr)
c.746A>C (p.Asn249Thr)
5g.177260034A>GCA3577756NSD1c.4139A>G (p.Asn1380Ser)
n.4595A>G
c.4703A>G (p.Asn1568Ser)
n.4409A>G
n.5159A>G
c.5012A>G (p.Asn1671Ser)
c.4205A>G (p.Asn1402Ser)
c.506A>G (p.Asn169Ser)
c.4592A>G (p.Asn1531Ser)
c.3956A>G (p.Asn1319Ser)
c.746A>G (p.Asn249Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.177260034A>TCA362302746NSD1c.4139A>T (p.Asn1380Ile)
n.4595A>T
c.4703A>T (p.Asn1568Ile)
n.4409A>T
n.5159A>T
c.5012A>T (p.Asn1671Ile)
c.4205A>T (p.Asn1402Ile)
c.506A>T (p.Asn169Ile)
c.4592A>T (p.Asn1531Ile)
c.3956A>T (p.Asn1319Ile)
c.746A>T (p.Asn249Ile)
5g.177260035T>ACA362302750NSD1c.4140T>A (p.Asn1380Lys)
n.4596T>A
c.4704T>A (p.Asn1568Lys)
n.4410T>A
n.5160T>A
c.5013T>A (p.Asn1671Lys)
c.4206T>A (p.Asn1402Lys)
c.507T>A (p.Asn169Lys)
c.4593T>A (p.Asn1531Lys)
c.3957T>A (p.Asn1319Lys)
c.747T>A (p.Asn249Lys)
 dbSNP
5g.177260035T>CCA447726296NSD1c.4140T>C (p.Asn1380=)
n.4596T>C
c.4704T>C (p.Asn1568=)
n.4410T>C
n.5160T>C
c.5013T>C (p.Asn1671=)
c.4206T>C (p.Asn1402=)
c.507T>C (p.Asn169=)
c.4593T>C (p.Asn1531=)
c.3957T>C (p.Asn1319=)
c.747T>C (p.Asn249=)
 dbSNP
5g.177260035T>GCA362302753NSD1c.4140T>G (p.Asn1380Lys)
n.4596T>G
c.4704T>G (p.Asn1568Lys)
n.4410T>G
n.5160T>G
c.5013T>G (p.Asn1671Lys)
c.4206T>G (p.Asn1402Lys)
c.507T>G (p.Asn169Lys)
c.4593T>G (p.Asn1531Lys)
c.3957T>G (p.Asn1319Lys)
c.747T>G (p.Asn249Lys)
5g.177260035T=CA1603527072NSD1c.4140T= (p.Asn1380=)
n.4596T=
c.4704T= (p.Asn1568=)
n.4410T=
n.5160T=
c.5013T= (p.Asn1671=)
c.4206T= (p.Asn1402=)
c.507T= (p.Asn169=)
c.4593T= (p.Asn1531=)
c.3957T= (p.Asn1319=)
c.747T= (p.Asn249=)
5g.177260036G>ACA362302754NSD1c.4141G>A (p.Asp1381Asn)
n.4597G>A
c.4705G>A (p.Asp1569Asn)
n.4411G>A
n.5161G>A
c.5014G>A (p.Asp1672Asn)
c.4207G>A (p.Asp1403Asn)
c.508G>A (p.Asp170Asn)
c.4594G>A (p.Asp1532Asn)
c.3958G>A (p.Asp1320Asn)
c.748G>A (p.Asp250Asn)
5g.177260036G>CCA362302759NSD1c.4141G>C (p.Asp1381His)
n.4597G>C
c.4705G>C (p.Asp1569His)
n.4411G>C
n.5161G>C
c.5014G>C (p.Asp1672His)
c.4207G>C (p.Asp1403His)
c.508G>C (p.Asp170His)
c.4594G>C (p.Asp1532His)
c.3958G>C (p.Asp1320His)
c.748G>C (p.Asp250His)
5g.177260036G>TCA362302757NSD1c.4141G>T (p.Asp1381Tyr)
n.4597G>T
c.4705G>T (p.Asp1569Tyr)
n.4411G>T
n.5161G>T
c.5014G>T (p.Asp1672Tyr)
c.4207G>T (p.Asp1403Tyr)
c.508G>T (p.Asp170Tyr)
c.4594G>T (p.Asp1532Tyr)
c.3958G>T (p.Asp1320Tyr)
c.748G>T (p.Asp250Tyr)
5g.177260037A>CCA362302761NSD1c.4142A>C (p.Asp1381Ala)
n.4598A>C
c.4706A>C (p.Asp1569Ala)
n.4412A>C
n.5162A>C
c.5015A>C (p.Asp1672Ala)
c.4208A>C (p.Asp1403Ala)
c.509A>C (p.Asp170Ala)
c.4595A>C (p.Asp1532Ala)
c.3959A>C (p.Asp1320Ala)
c.749A>C (p.Asp250Ala)
5g.177260037A>GCA362302770NSD1c.4142A>G (p.Asp1381Gly)
n.4598A>G
c.4706A>G (p.Asp1569Gly)
n.4412A>G
n.5162A>G
c.5015A>G (p.Asp1672Gly)
c.4208A>G (p.Asp1403Gly)
c.509A>G (p.Asp170Gly)
c.4595A>G (p.Asp1532Gly)
c.3959A>G (p.Asp1320Gly)
c.749A>G (p.Asp250Gly)
5g.177260037A>TCA362302765NSD1c.4142A>T (p.Asp1381Val)
n.4598A>T
c.4706A>T (p.Asp1569Val)
n.4412A>T
n.5162A>T
c.5015A>T (p.Asp1672Val)
c.4208A>T (p.Asp1403Val)
c.509A>T (p.Asp170Val)
c.4595A>T (p.Asp1532Val)
c.3959A>T (p.Asp1320Val)
c.749A>T (p.Asp250Val)
5g.177260038C>ACA362302772NSD1c.4143C>A (p.Asp1381Glu)
n.4599C>A
c.4707C>A (p.Asp1569Glu)
n.4413C>A
n.5163C>A
c.5016C>A (p.Asp1672Glu)
c.4209C>A (p.Asp1403Glu)
c.510C>A (p.Asp170Glu)
c.4596C>A (p.Asp1532Glu)
c.3960C>A (p.Asp1320Glu)
c.750C>A (p.Asp250Glu)
5g.177260038C>GCA362302774NSD1c.4143C>G (p.Asp1381Glu)
n.4599C>G
c.4707C>G (p.Asp1569Glu)
n.4413C>G
n.5163C>G
c.5016C>G (p.Asp1672Glu)
c.4209C>G (p.Asp1403Glu)
c.510C>G (p.Asp170Glu)
c.4596C>G (p.Asp1532Glu)
c.3960C>G (p.Asp1320Glu)
c.750C>G (p.Asp250Glu)
5g.177260038C>TCA447726298NSD1c.4143C>T (p.Asp1381=)
n.4599C>T
c.4707C>T (p.Asp1569=)
n.4413C>T
n.5163C>T
c.5016C>T (p.Asp1672=)
c.4209C>T (p.Asp1403=)
c.510C>T (p.Asp170=)
c.4596C>T (p.Asp1532=)
c.3960C>T (p.Asp1320=)
c.750C>T (p.Asp250=)
5g.177260038_177260039delinsCTCA1603527077NSD1c.4143_4144delinsCT (p.Asp1381=)
n.4599_4600delinsCT
c.4707_4708delinsCT (p.Asp1569=)
n.4413_4414delinsCT
n.5163_5164delinsCT
c.5016_5017delinsCT (p.Asp1672=)
c.4209_4210delinsCT (p.Asp1403=)
c.510_511delinsCT (p.Asp170=)
c.4596_4597delinsCT (p.Asp1532=)
c.3960_3961delinsCT (p.Asp1320=)
c.750_751delinsCT (p.Asp250=)
5g.177260039T>ACA362302777NSD1c.4144T>A (p.Phe1382Ile)
n.4600T>A
c.4708T>A (p.Phe1570Ile)
n.4414T>A
n.5164T>A
c.5017T>A (p.Phe1673Ile)
c.4210T>A (p.Phe1404Ile)
c.511T>A (p.Phe171Ile)
c.4597T>A (p.Phe1533Ile)
c.3961T>A (p.Phe1321Ile)
c.751T>A (p.Phe251Ile)
5g.177260039T>CCA362302779NSD1c.4144T>C (p.Phe1382Leu)
n.4600T>C
c.4708T>C (p.Phe1570Leu)
n.4414T>C
n.5164T>C
c.5017T>C (p.Phe1673Leu)
c.4210T>C (p.Phe1404Leu)
c.511T>C (p.Phe171Leu)
c.4597T>C (p.Phe1533Leu)
c.3961T>C (p.Phe1321Leu)
c.751T>C (p.Phe251Leu)
5g.177260039T>GCA362302782NSD1c.4144T>G (p.Phe1382Val)
n.4600T>G
c.4708T>G (p.Phe1570Val)
n.4414T>G
n.5164T>G
c.5017T>G (p.Phe1673Val)
c.4210T>G (p.Phe1404Val)
c.511T>G (p.Phe171Val)
c.4597T>G (p.Phe1533Val)
c.3961T>G (p.Phe1321Val)
c.751T>G (p.Phe251Val)
 gnomAD v4
5g.177260042delCA915942755NSD1c.4147del (p.Cys1383AlafsTer?)
n.4603del
c.4711del (p.Cys1571AlafsTer?)
n.4417del
n.5167del
c.5020del (p.Cys1674AlafsTer?)
c.4213del (p.Cys1405AlafsTer?)
c.514del (p.Cys172AlafsTer?)
c.4600del (p.Cys1534AlafsTer?)
c.3964del (p.Cys1322AlafsTer?)
c.754del (p.Cys252AlafsTer?)
 ClinVar dbSNP
5g.177260040T>ACA362302785NSD1c.4145T>A (p.Phe1382Tyr)
n.4601T>A
c.4709T>A (p.Phe1570Tyr)
n.4415T>A
n.5165T>A
c.5018T>A (p.Phe1673Tyr)
c.4211T>A (p.Phe1404Tyr)
c.512T>A (p.Phe171Tyr)
c.4598T>A (p.Phe1533Tyr)
c.3962T>A (p.Phe1321Tyr)
c.752T>A (p.Phe251Tyr)
5g.177260040T>CCA362302787NSD1c.4145T>C (p.Phe1382Ser)
n.4601T>C
c.4709T>C (p.Phe1570Ser)
n.4415T>C
n.5165T>C
c.5018T>C (p.Phe1673Ser)
c.4211T>C (p.Phe1404Ser)
c.512T>C (p.Phe171Ser)
c.4598T>C (p.Phe1533Ser)
c.3962T>C (p.Phe1321Ser)
c.752T>C (p.Phe251Ser)
5g.177260040T>GCA362302789NSD1c.4145T>G (p.Phe1382Cys)
n.4601T>G
c.4709T>G (p.Phe1570Cys)
n.4415T>G
n.5165T>G
c.5018T>G (p.Phe1673Cys)
c.4211T>G (p.Phe1404Cys)
c.512T>G (p.Phe171Cys)
c.4598T>G (p.Phe1533Cys)
c.3962T>G (p.Phe1321Cys)
c.752T>G (p.Phe251Cys)
5g.177260041T>ACA362302793NSD1c.4146T>A (p.Phe1382Leu)
n.4602T>A
c.4710T>A (p.Phe1570Leu)
n.4416T>A
n.5166T>A
c.5019T>A (p.Phe1673Leu)
c.4212T>A (p.Phe1404Leu)
c.513T>A (p.Phe171Leu)
c.4599T>A (p.Phe1533Leu)
c.3963T>A (p.Phe1321Leu)
c.753T>A (p.Phe251Leu)
5g.177260041T>CCA447726304NSD1c.4146T>C (p.Phe1382=)
n.4602T>C
c.4710T>C (p.Phe1570=)
n.4416T>C
n.5166T>C
c.5019T>C (p.Phe1673=)
c.4212T>C (p.Phe1404=)
c.513T>C (p.Phe171=)
c.4599T>C (p.Phe1533=)
c.3963T>C (p.Phe1321=)
c.753T>C (p.Phe251=)
5g.177260041T>GCA362302796NSD1c.4146T>G (p.Phe1382Leu)
n.4602T>G
c.4710T>G (p.Phe1570Leu)
n.4416T>G
n.5166T>G
c.5019T>G (p.Phe1673Leu)
c.4212T>G (p.Phe1404Leu)
c.513T>G (p.Phe171Leu)
c.4599T>G (p.Phe1533Leu)
c.3963T>G (p.Phe1321Leu)
c.753T>G (p.Phe251Leu)
 COSMIC COSMIC
5g.177260042T>ACA362302806NSD1c.4147T>A (p.Cys1383Ser)
n.4603T>A
c.4711T>A (p.Cys1571Ser)
n.4417T>A
n.5167T>A
c.5020T>A (p.Cys1674Ser)
c.4213T>A (p.Cys1405Ser)
c.514T>A (p.Cys172Ser)
c.4600T>A (p.Cys1534Ser)
c.3964T>A (p.Cys1322Ser)
c.754T>A (p.Cys252Ser)
5g.177260042T>CCA362302809NSD1c.4147T>C (p.Cys1383Arg)
n.4603T>C
c.4711T>C (p.Cys1571Arg)
n.4417T>C
n.5167T>C
c.5020T>C (p.Cys1674Arg)
c.4213T>C (p.Cys1405Arg)
c.514T>C (p.Cys172Arg)
c.4600T>C (p.Cys1534Arg)
c.3964T>C (p.Cys1322Arg)
c.754T>C (p.Cys252Arg)
5g.177260042T>GCA362302811NSD1c.4147T>G (p.Cys1383Gly)
n.4603T>G
c.4711T>G (p.Cys1571Gly)
n.4417T>G
n.5167T>G
c.5020T>G (p.Cys1674Gly)
c.4213T>G (p.Cys1405Gly)
c.514T>G (p.Cys172Gly)
c.4600T>G (p.Cys1534Gly)
c.3964T>G (p.Cys1322Gly)
c.754T>G (p.Cys252Gly)
5g.177260043G>ACA294930NSD1c.4148G>A (p.Cys1383Tyr)
n.4604G>A
c.4712G>A (p.Cys1571Tyr)
n.4418G>A
n.5168G>A
c.5021G>A (p.Cys1674Tyr)
c.4214G>A (p.Cys1405Tyr)
c.515G>A (p.Cys172Tyr)
c.4601G>A (p.Cys1534Tyr)
c.3965G>A (p.Cys1322Tyr)
c.755G>A (p.Cys252Tyr)
 ClinVar dbSNP
5g.177260043G>CCA10607041NSD1c.4148G>C (p.Cys1383Ser)
n.4604G>C
c.4712G>C (p.Cys1571Ser)
n.4418G>C
n.5168G>C
c.5021G>C (p.Cys1674Ser)
c.4214G>C (p.Cys1405Ser)
c.515G>C (p.Cys172Ser)
c.4601G>C (p.Cys1534Ser)
c.3965G>C (p.Cys1322Ser)
c.755G>C (p.Cys252Ser)
 ClinVar dbSNP
5g.177260043G=CA1603527084NSD1c.4148G= (p.Cys1383=)
n.4604G=
c.4712G= (p.Cys1571=)
n.4418G=
n.5168G=
c.5021G= (p.Cys1674=)
c.4214G= (p.Cys1405=)
c.515G= (p.Cys172=)
c.4601G= (p.Cys1534=)
c.3965G= (p.Cys1322=)
c.755G= (p.Cys252=)
5g.177260043G>TCA362302819NSD1c.4148G>T (p.Cys1383Phe)
n.4604G>T
c.4712G>T (p.Cys1571Phe)
n.4418G>T
n.5168G>T
c.5021G>T (p.Cys1674Phe)
c.4214G>T (p.Cys1405Phe)
c.515G>T (p.Cys172Phe)
c.4601G>T (p.Cys1534Phe)
c.3965G>T (p.Cys1322Phe)
c.755G>T (p.Cys252Phe)
5g.177260044C>ACA362302820NSD1c.4149C>A (p.Cys1383Ter)
n.4605C>A
c.4713C>A (p.Cys1571Ter)
n.4419C>A
n.5169C>A
c.5022C>A (p.Cys1674Ter)
c.4215C>A (p.Cys1405Ter)
c.516C>A (p.Cys172Ter)
c.4602C>A (p.Cys1534Ter)
c.3966C>A (p.Cys1322Ter)
c.756C>A (p.Cys252Ter)
 dbSNP
5g.177260044C>GCA362302826NSD1c.4149C>G (p.Cys1383Trp)
n.4605C>G
c.4713C>G (p.Cys1571Trp)
n.4419C>G
n.5169C>G
c.5022C>G (p.Cys1674Trp)
c.4215C>G (p.Cys1405Trp)
c.516C>G (p.Cys172Trp)
c.4602C>G (p.Cys1534Trp)
c.3966C>G (p.Cys1322Trp)
c.756C>G (p.Cys252Trp)
5g.177260044C>TCA447726306NSD1c.4149C>T (p.Cys1383=)
n.4605C>T
c.4713C>T (p.Cys1571=)
n.4419C>T
n.5169C>T
c.5022C>T (p.Cys1674=)
c.4215C>T (p.Cys1405=)
c.516C>T (p.Cys172=)
c.4602C>T (p.Cys1534=)
c.3966C>T (p.Cys1322=)
c.756C>T (p.Cys252=)
 dbSNP gnomAD v4
5g.177260045C>ACA362302830NSD1c.4150C>A (p.Leu1384Met)
n.4606C>A
c.4714C>A (p.Leu1572Met)
n.4420C>A
n.5170C>A
c.5023C>A (p.Leu1675Met)
c.4216C>A (p.Leu1406Met)
c.517C>A (p.Leu173Met)
c.4603C>A (p.Leu1535Met)
c.3967C>A (p.Leu1323Met)
c.757C>A (p.Leu253Met)
5g.177260045C>GCA362302831NSD1c.4150C>G (p.Leu1384Val)
n.4606C>G
c.4714C>G (p.Leu1572Val)
n.4420C>G
n.5170C>G
c.5023C>G (p.Leu1675Val)
c.4216C>G (p.Leu1406Val)
c.517C>G (p.Leu173Val)
c.4603C>G (p.Leu1535Val)
c.3967C>G (p.Leu1323Val)
c.757C>G (p.Leu253Val)
5g.177260045C>TCA447726308NSD1c.4150C>T (p.Leu1384=)
n.4606C>T
c.4714C>T (p.Leu1572=)
n.4420C>T
n.5170C>T
c.5023C>T (p.Leu1675=)
c.4216C>T (p.Leu1406=)
c.517C>T (p.Leu173=)
c.4603C>T (p.Leu1535=)
c.3967C>T (p.Leu1323=)
c.757C>T (p.Leu253=)
5g.177260046T>ACA362302835NSD1c.4151T>A (p.Leu1384Gln)
n.4607T>A
c.4715T>A (p.Leu1572Gln)
n.4421T>A
n.5171T>A
c.5024T>A (p.Leu1675Gln)
c.4217T>A (p.Leu1406Gln)
c.518T>A (p.Leu173Gln)
c.4604T>A (p.Leu1535Gln)
c.3968T>A (p.Leu1323Gln)
c.758T>A (p.Leu253Gln)
5g.177260046T>CCA362302837NSD1c.4151T>C (p.Leu1384Pro)
n.4607T>C
c.4715T>C (p.Leu1572Pro)
n.4421T>C
n.5171T>C
c.5024T>C (p.Leu1675Pro)
c.4217T>C (p.Leu1406Pro)
c.518T>C (p.Leu173Pro)
c.4604T>C (p.Leu1535Pro)
c.3968T>C (p.Leu1323Pro)
c.758T>C (p.Leu253Pro)
5g.177260046T>GCA362302841NSD1c.4151T>G (p.Leu1384Arg)
n.4607T>G
c.4715T>G (p.Leu1572Arg)
n.4421T>G
n.5171T>G
c.5024T>G (p.Leu1675Arg)
c.4217T>G (p.Leu1406Arg)
c.518T>G (p.Leu173Arg)
c.4604T>G (p.Leu1535Arg)
c.3968T>G (p.Leu1323Arg)
c.758T>G (p.Leu253Arg)
5g.177260047G>ACA447726309NSD1c.4152G>A (p.Leu1384=)
n.4608G>A
c.4716G>A (p.Leu1572=)
n.4422G>A
n.5172G>A
c.5025G>A (p.Leu1675=)
c.4218G>A (p.Leu1406=)
c.519G>A (p.Leu173=)
c.4605G>A (p.Leu1535=)
c.3969G>A (p.Leu1323=)
c.759G>A (p.Leu253=)
5g.177260047G>CCA447726311NSD1c.4152G>C (p.Leu1384=)
n.4608G>C
c.4716G>C (p.Leu1572=)
n.4422G>C
n.5172G>C
c.5025G>C (p.Leu1675=)
c.4218G>C (p.Leu1406=)
c.519G>C (p.Leu173=)
c.4605G>C (p.Leu1535=)
c.3969G>C (p.Leu1323=)
c.759G>C (p.Leu253=)
 dbSNP gnomAD v2 gnomAD v4
5g.177260047G=CA1603527090NSD1c.4152G= (p.Leu1384=)
n.4608G=
c.4716G= (p.Leu1572=)
n.4422G=
n.5172G=
c.5025G= (p.Leu1675=)
c.4218G= (p.Leu1406=)
c.519G= (p.Leu173=)
c.4605G= (p.Leu1535=)
c.3969G= (p.Leu1323=)
c.759G= (p.Leu253=)
5g.177260047G>TCA447726312NSD1c.4152G>T (p.Leu1384=)
n.4608G>T
c.4716G>T (p.Leu1572=)
n.4422G>T
n.5172G>T
c.5025G>T (p.Leu1675=)
c.4218G>T (p.Leu1406=)
c.519G>T (p.Leu173=)
c.4605G>T (p.Leu1535=)
c.3969G>T (p.Leu1323=)
c.759G>T (p.Leu253=)
5g.177260048G>ACA362302845NSD1c.4153G>A (p.Ala1385Thr)
n.4609G>A
c.4717G>A (p.Ala1573Thr)
n.4423G>A
n.5173G>A
c.5026G>A (p.Ala1676Thr)
c.4219G>A (p.Ala1407Thr)
c.520G>A (p.Ala174Thr)
c.4606G>A (p.Ala1536Thr)
c.3970G>A (p.Ala1324Thr)
c.760G>A (p.Ala254Thr)
 dbSNP COSMIC COSMIC
5g.177260048G>CCA362302847NSD1c.4153G>C (p.Ala1385Pro)
n.4609G>C
c.4717G>C (p.Ala1573Pro)
n.4423G>C
n.5173G>C
c.5026G>C (p.Ala1676Pro)
c.4219G>C (p.Ala1407Pro)
c.520G>C (p.Ala174Pro)
c.4606G>C (p.Ala1536Pro)
c.3970G>C (p.Ala1324Pro)
c.760G>C (p.Ala254Pro)
5g.177260048G=CA1603527094NSD1c.4153G= (p.Ala1385=)
n.4609G=
c.4717G= (p.Ala1573=)
n.4423G=
n.5173G=
c.5026G= (p.Ala1676=)
c.4219G= (p.Ala1407=)
c.520G= (p.Ala174=)
c.4606G= (p.Ala1536=)
c.3970G= (p.Ala1324=)
c.760G= (p.Ala254=)
5g.177260048G>TCA362302850NSD1c.4153G>T (p.Ala1385Ser)
n.4609G>T
c.4717G>T (p.Ala1573Ser)
n.4423G>T
n.5173G>T
c.5026G>T (p.Ala1676Ser)
c.4219G>T (p.Ala1407Ser)
c.520G>T (p.Ala174Ser)
c.4606G>T (p.Ala1536Ser)
c.3970G>T (p.Ala1324Ser)
c.760G>T (p.Ala254Ser)
5g.177260049C>ACA362302871NSD1c.4154C>A (p.Ala1385Asp)
n.4610C>A
c.4718C>A (p.Ala1573Asp)
n.4424C>A
n.5174C>A
c.5027C>A (p.Ala1676Asp)
c.4220C>A (p.Ala1407Asp)
c.521C>A (p.Ala174Asp)
c.4607C>A (p.Ala1536Asp)
c.3971C>A (p.Ala1324Asp)
c.761C>A (p.Ala254Asp)
 COSMIC
5g.177260049C>GCA362302870NSD1c.4154C>G (p.Ala1385Gly)
n.4610C>G
c.4718C>G (p.Ala1573Gly)
n.4424C>G
n.5174C>G
c.5027C>G (p.Ala1676Gly)
c.4220C>G (p.Ala1407Gly)
c.521C>G (p.Ala174Gly)
c.4607C>G (p.Ala1536Gly)
c.3971C>G (p.Ala1324Gly)
c.761C>G (p.Ala254Gly)
5g.177260049C>TCA362302853NSD1c.4154C>T (p.Ala1385Val)
n.4610C>T
c.4718C>T (p.Ala1573Val)
n.4424C>T
n.5174C>T
c.5027C>T (p.Ala1676Val)
c.4220C>T (p.Ala1407Val)
c.521C>T (p.Ala174Val)
c.4607C>T (p.Ala1536Val)
c.3971C>T (p.Ala1324Val)
c.761C>T (p.Ala254Val)
5g.177260049dupCA2695205808NSD1c.4154dup (p.Ala1386CysfsTer9)
n.4610dup
c.4718dup (p.Ala1574CysfsTer9)
n.4424dup
n.5174dup
c.5027dup (p.Ala1677CysfsTer9)
c.4220dup (p.Ala1408CysfsTer9)
c.521dup (p.Ala175CysfsTer9)
c.4607dup (p.Ala1537CysfsTer9)
c.3971dup (p.Ala1325CysfsTer9)
c.761dup (p.Ala255CysfsTer9)
5g.177260050T>ACA447726315NSD1c.4155T>A (p.Ala1385=)
n.4611T>A
c.4719T>A (p.Ala1573=)
n.4425T>A
n.5175T>A
c.5028T>A (p.Ala1676=)
c.4221T>A (p.Ala1407=)
c.522T>A (p.Ala174=)
c.4608T>A (p.Ala1536=)
c.3972T>A (p.Ala1324=)
c.762T>A (p.Ala254=)
5g.177260050T>CCA447726314NSD1c.4155T>C (p.Ala1385=)
n.4611T>C
c.4719T>C (p.Ala1573=)
n.4425T>C
n.5175T>C
c.5028T>C (p.Ala1676=)
c.4221T>C (p.Ala1407=)
c.522T>C (p.Ala174=)
c.4608T>C (p.Ala1536=)
c.3972T>C (p.Ala1324=)
c.762T>C (p.Ala254=)
5g.177260050T>GCA447726313NSD1c.4155T>G (p.Ala1385=)
n.4611T>G
c.4719T>G (p.Ala1573=)
n.4425T>G
n.5175T>G
c.5028T>G (p.Ala1676=)
c.4221T>G (p.Ala1407=)
c.522T>G (p.Ala174=)
c.4608T>G (p.Ala1536=)
c.3972T>G (p.Ala1324=)
c.762T>G (p.Ala254=)
5g.177260051G>ACA362302878NSD1c.4156G>A (p.Ala1386Thr)
n.4612G>A
c.4720G>A (p.Ala1574Thr)
n.4426G>A
n.5176G>A
c.5029G>A (p.Ala1677Thr)
c.4222G>A (p.Ala1408Thr)
c.523G>A (p.Ala175Thr)
c.4609G>A (p.Ala1537Thr)
c.3973G>A (p.Ala1325Thr)
c.763G>A (p.Ala255Thr)
 dbSNP
5g.177260051G>CCA362302879NSD1c.4156G>C (p.Ala1386Pro)
n.4612G>C
c.4720G>C (p.Ala1574Pro)
n.4426G>C
n.5176G>C
c.5029G>C (p.Ala1677Pro)
c.4222G>C (p.Ala1408Pro)
c.523G>C (p.Ala175Pro)
c.4609G>C (p.Ala1537Pro)
c.3973G>C (p.Ala1325Pro)
c.763G>C (p.Ala255Pro)
5g.177260051G>TCA362302885NSD1c.4156G>T (p.Ala1386Ser)
n.4612G>T
c.4720G>T (p.Ala1574Ser)
n.4426G>T
n.5176G>T
c.5029G>T (p.Ala1677Ser)
c.4222G>T (p.Ala1408Ser)
c.523G>T (p.Ala175Ser)
c.4609G>T (p.Ala1537Ser)
c.3973G>T (p.Ala1325Ser)
c.763G>T (p.Ala255Ser)
5g.177260052C>ACA362302890NSD1c.4157C>A (p.Ala1386Asp)
n.4613C>A
c.4721C>A (p.Ala1574Asp)
n.4427C>A
n.5177C>A
c.5030C>A (p.Ala1677Asp)
c.4223C>A (p.Ala1408Asp)
c.524C>A (p.Ala175Asp)
c.4610C>A (p.Ala1537Asp)
c.3974C>A (p.Ala1325Asp)
c.764C>A (p.Ala255Asp)
5g.177260052C>GCA362302892NSD1c.4157C>G (p.Ala1386Gly)
n.4613C>G
c.4721C>G (p.Ala1574Gly)
n.4427C>G
n.5177C>G
c.5030C>G (p.Ala1677Gly)
c.4223C>G (p.Ala1408Gly)
c.524C>G (p.Ala175Gly)
c.4610C>G (p.Ala1537Gly)
c.3974C>G (p.Ala1325Gly)
c.764C>G (p.Ala255Gly)
5g.177260052C>TCA362302894NSD1c.4157C>T (p.Ala1386Val)
n.4613C>T
c.4721C>T (p.Ala1574Val)
n.4427C>T
n.5177C>T
c.5030C>T (p.Ala1677Val)
c.4223C>T (p.Ala1408Val)
c.524C>T (p.Ala175Val)
c.4610C>T (p.Ala1537Val)
c.3974C>T (p.Ala1325Val)
c.764C>T (p.Ala255Val)
 dbSNP
5g.177260053T>ACA447726316NSD1c.4158T>A (p.Ala1386=)
n.4614T>A
c.4722T>A (p.Ala1574=)
n.4428T>A
n.5178T>A
c.5031T>A (p.Ala1677=)
c.4224T>A (p.Ala1408=)
c.525T>A (p.Ala175=)
c.4611T>A (p.Ala1537=)
c.3975T>A (p.Ala1325=)
c.765T>A (p.Ala255=)
5g.177260053T>CCA3577757NSD1c.4158T>C (p.Ala1386=)
n.4614T>C
c.4722T>C (p.Ala1574=)
n.4428T>C
n.5178T>C
c.5031T>C (p.Ala1677=)
c.4224T>C (p.Ala1408=)
c.525T>C (p.Ala175=)
c.4611T>C (p.Ala1537=)
c.3975T>C (p.Ala1325=)
c.765T>C (p.Ala255=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.177260053T>GCA447726317NSD1c.4158T>G (p.Ala1386=)
n.4614T>G
c.4722T>G (p.Ala1574=)
n.4428T>G
n.5178T>G
c.5031T>G (p.Ala1677=)
c.4224T>G (p.Ala1408=)
c.525T>G (p.Ala175=)
c.4611T>G (p.Ala1537=)
c.3975T>G (p.Ala1325=)
c.765T>G (p.Ala255=)
5g.177260053T=CA1603527098NSD1c.4158T= (p.Ala1386=)
n.4614T=
c.4722T= (p.Ala1574=)
n.4428T=
n.5178T=
c.5031T= (p.Ala1677=)
c.4224T= (p.Ala1408=)
c.525T= (p.Ala175=)
c.4611T= (p.Ala1537=)
c.3975T= (p.Ala1325=)
c.765T= (p.Ala255=)
5g.177260054G>ACA362302895NSD1c.4159G>A (p.Gly1387Arg)
n.4615G>A
c.4723G>A (p.Gly1575Arg)
n.4429G>A
n.5179G>A
c.5032G>A (p.Gly1678Arg)
c.4225G>A (p.Gly1409Arg)
c.526G>A (p.Gly176Arg)
c.4612G>A (p.Gly1538Arg)
c.3976G>A (p.Gly1326Arg)
c.766G>A (p.Gly256Arg)
5g.177260054G>CCA362302898NSD1c.4159G>C (p.Gly1387Arg)
n.4615G>C
c.4723G>C (p.Gly1575Arg)
n.4429G>C
n.5179G>C
c.5032G>C (p.Gly1678Arg)
c.4225G>C (p.Gly1409Arg)
c.526G>C (p.Gly176Arg)
c.4612G>C (p.Gly1538Arg)
c.3976G>C (p.Gly1326Arg)
c.766G>C (p.Gly256Arg)
5g.177260054G>TCA362302901NSD1c.4159G>T (p.Gly1387Trp)
n.4615G>T
c.4723G>T (p.Gly1575Trp)
n.4429G>T
n.5179G>T
c.5032G>T (p.Gly1678Trp)
c.4225G>T (p.Gly1409Trp)
c.526G>T (p.Gly176Trp)
c.4612G>T (p.Gly1538Trp)
c.3976G>T (p.Gly1326Trp)
c.766G>T (p.Gly256Trp)
5g.177260055G>ACA362302904NSD1c.4160G>A (p.Gly1387Glu)
n.4616G>A
c.4724G>A (p.Gly1575Glu)
n.4430G>A
n.5180G>A
c.5033G>A (p.Gly1678Glu)
c.4226G>A (p.Gly1409Glu)
c.527G>A (p.Gly176Glu)
c.4613G>A (p.Gly1538Glu)
c.3977G>A (p.Gly1326Glu)
c.767G>A (p.Gly256Glu)
5g.177260055G>CCA362302911NSD1c.4160G>C (p.Gly1387Ala)
n.4616G>C
c.4724G>C (p.Gly1575Ala)
n.4430G>C
n.5180G>C
c.5033G>C (p.Gly1678Ala)
c.4226G>C (p.Gly1409Ala)
c.527G>C (p.Gly176Ala)
c.4613G>C (p.Gly1538Ala)
c.3977G>C (p.Gly1326Ala)
c.767G>C (p.Gly256Ala)
 ClinVar
5g.177260055G>TCA362302913NSD1c.4160G>T (p.Gly1387Val)
n.4616G>T
c.4724G>T (p.Gly1575Val)
n.4430G>T
n.5180G>T
c.5033G>T (p.Gly1678Val)
c.4226G>T (p.Gly1409Val)
c.527G>T (p.Gly176Val)
c.4613G>T (p.Gly1538Val)
c.3977G>T (p.Gly1326Val)
c.767G>T (p.Gly256Val)
5g.177260056G>ACA447726318NSD1c.4161G>A (p.Gly1387=)
n.4617G>A
c.4725G>A (p.Gly1575=)
n.4431G>A
n.5181G>A
c.5034G>A (p.Gly1678=)
c.4227G>A (p.Gly1409=)
c.528G>A (p.Gly176=)
c.4614G>A (p.Gly1538=)
c.3978G>A (p.Gly1326=)
c.768G>A (p.Gly256=)
 gnomAD v4
5g.177260056G>CCA447726319NSD1c.4161G>C (p.Gly1387=)
n.4617G>C
c.4725G>C (p.Gly1575=)
n.4431G>C
n.5181G>C
c.5034G>C (p.Gly1678=)
c.4227G>C (p.Gly1409=)
c.528G>C (p.Gly176=)
c.4614G>C (p.Gly1538=)
c.3978G>C (p.Gly1326=)
c.768G>C (p.Gly256=)
5g.177260056G>TCA447726320NSD1c.4161G>T (p.Gly1387=)
n.4617G>T
c.4725G>T (p.Gly1575=)
n.4431G>T
n.5181G>T
c.5034G>T (p.Gly1678=)
c.4227G>T (p.Gly1409=)
c.528G>T (p.Gly176=)
c.4614G>T (p.Gly1538=)
c.3978G>T (p.Gly1326=)
c.768G>T (p.Gly256=)
5g.177260057T>ACA362302925NSD1c.4162T>A (p.Ser1388Thr)
n.4618T>A
c.4726T>A (p.Ser1576Thr)
n.4432T>A
n.5182T>A
c.5035T>A (p.Ser1679Thr)
c.4228T>A (p.Ser1410Thr)
c.529T>A (p.Ser177Thr)
c.4615T>A (p.Ser1539Thr)
c.3979T>A (p.Ser1327Thr)
c.769T>A (p.Ser257Thr)
5g.177260057T>CCA362302918NSD1c.4162T>C (p.Ser1388Pro)
n.4618T>C
c.4726T>C (p.Ser1576Pro)
n.4432T>C
n.5182T>C
c.5035T>C (p.Ser1679Pro)
c.4228T>C (p.Ser1410Pro)
c.529T>C (p.Ser177Pro)
c.4615T>C (p.Ser1539Pro)
c.3979T>C (p.Ser1327Pro)
c.769T>C (p.Ser257Pro)
5g.177260057T>GCA362302922NSD1c.4162T>G (p.Ser1388Ala)
n.4618T>G
c.4726T>G (p.Ser1576Ala)
n.4432T>G
n.5182T>G
c.5035T>G (p.Ser1679Ala)
c.4228T>G (p.Ser1410Ala)
c.529T>G (p.Ser177Ala)
c.4615T>G (p.Ser1539Ala)
c.3979T>G (p.Ser1327Ala)
c.769T>G (p.Ser257Ala)
5g.177260058C>ACA362302928NSD1c.4163C>A (p.Ser1388Ter)
n.4619C>A
c.4727C>A (p.Ser1576Ter)
n.4433C>A
n.5183C>A
c.5036C>A (p.Ser1679Ter)
c.4229C>A (p.Ser1410Ter)
c.530C>A (p.Ser177Ter)
c.4616C>A (p.Ser1539Ter)
c.3980C>A (p.Ser1327Ter)
c.770C>A (p.Ser257Ter)
 gnomAD v4 COSMIC COSMIC
5g.177260058C=CA1603527100NSD1c.4163C= (p.Ser1388=)
n.4619C=
c.4727C= (p.Ser1576=)
n.4433C=
n.5183C=
c.5036C= (p.Ser1679=)
c.4229C= (p.Ser1410=)
c.530C= (p.Ser177=)
c.4616C= (p.Ser1539=)
c.3980C= (p.Ser1327=)
c.770C= (p.Ser257=)
5g.177260058C>GCA16618178NSD1c.4163C>G (p.Ser1388Ter)
n.4619C>G
c.4727C>G (p.Ser1576Ter)
n.4433C>G
n.5183C>G
c.5036C>G (p.Ser1679Ter)
c.4229C>G (p.Ser1410Ter)
c.530C>G (p.Ser177Ter)
c.4616C>G (p.Ser1539Ter)
c.3980C>G (p.Ser1327Ter)
c.770C>G (p.Ser257Ter)
 ClinVar dbSNP COSMIC COSMIC
5g.177260058C>TCA362302932NSD1c.4163C>T (p.Ser1388Leu)
n.4619C>T
c.4727C>T (p.Ser1576Leu)
n.4433C>T
n.5183C>T
c.5036C>T (p.Ser1679Leu)
c.4229C>T (p.Ser1410Leu)
c.530C>T (p.Ser177Leu)
c.4616C>T (p.Ser1539Leu)
c.3980C>T (p.Ser1327Leu)
c.770C>T (p.Ser257Leu)
5g.177260059A>CCA447726321NSD1c.4164A>C (p.Ser1388=)
n.4620A>C
c.4728A>C (p.Ser1576=)
n.4434A>C
n.5184A>C
c.5037A>C (p.Ser1679=)
c.4230A>C (p.Ser1410=)
c.531A>C (p.Ser177=)
c.4617A>C (p.Ser1539=)
c.3981A>C (p.Ser1327=)
c.771A>C (p.Ser257=)
5g.177260059A>GCA447726322NSD1c.4164A>G (p.Ser1388=)
n.4620A>G
c.4728A>G (p.Ser1576=)
n.4434A>G
n.5184A>G
c.5037A>G (p.Ser1679=)
c.4230A>G (p.Ser1410=)
c.531A>G (p.Ser177=)
c.4617A>G (p.Ser1539=)
c.3981A>G (p.Ser1327=)
c.771A>G (p.Ser257=)
5g.177260059A>TCA447726323NSD1c.4164A>T (p.Ser1388=)
n.4620A>T
c.4728A>T (p.Ser1576=)
n.4434A>T
n.5184A>T
c.5037A>T (p.Ser1679=)
c.4230A>T (p.Ser1410=)
c.531A>T (p.Ser177=)
c.4617A>T (p.Ser1539=)
c.3981A>T (p.Ser1327=)
c.771A>T (p.Ser257=)
5g.177260060_177260061insGCAAACA2711095124NSD1c.4165_4166insGCAAA (p.Lys1389SerfsTer?)
n.4621_4622insGCAAA
c.4729_4730insGCAAA (p.Lys1577SerfsTer?)
n.4435_4436insGCAAA
n.5185_5186insGCAAA
c.5038_5039insGCAAA (p.Lys1680SerfsTer?)
c.4231_4232insGCAAA (p.Lys1411SerfsTer?)
c.532_533insGCAAA (p.Lys178SerfsTer?)
c.4618_4619insGCAAA (p.Lys1540SerfsTer?)
c.3982_3983insGCAAA (p.Lys1328SerfsTer?)
c.772_773insGCAAA (p.Lys258SerfsTer?)
 dbSNP
5g.177260060A=CA1603527104NSD1c.4165A= (p.Lys1389=)
n.4621A=
c.4729A= (p.Lys1577=)
n.4435A=
n.5185A=
c.5038A= (p.Lys1680=)
c.4231A= (p.Lys1411=)
c.532A= (p.Lys178=)
c.4618A= (p.Lys1540=)
c.3982A= (p.Lys1328=)
c.772A= (p.Lys258=)
5g.177260060A>CCA362302935NSD1c.4165A>C (p.Lys1389Gln)
n.4621A>C
c.4729A>C (p.Lys1577Gln)
n.4435A>C
n.5185A>C
c.5038A>C (p.Lys1680Gln)
c.4231A>C (p.Lys1411Gln)
c.532A>C (p.Lys178Gln)
c.4618A>C (p.Lys1540Gln)
c.3982A>C (p.Lys1328Gln)
c.772A>C (p.Lys258Gln)
5g.177260060A>GCA3577758NSD1c.4165A>G (p.Lys1389Glu)
n.4621A>G
c.4729A>G (p.Lys1577Glu)
n.4435A>G
n.5185A>G
c.5038A>G (p.Lys1680Glu)
c.4231A>G (p.Lys1411Glu)
c.532A>G (p.Lys178Glu)
c.4618A>G (p.Lys1540Glu)
c.3982A>G (p.Lys1328Glu)
c.772A>G (p.Lys258Glu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.177260060A>TCA362302939NSD1c.4165A>T (p.Lys1389Ter)
n.4621A>T
c.4729A>T (p.Lys1577Ter)
n.4435A>T
n.5185A>T
c.5038A>T (p.Lys1680Ter)
c.4231A>T (p.Lys1411Ter)
c.532A>T (p.Lys178Ter)
c.4618A>T (p.Lys1540Ter)
c.3982A>T (p.Lys1328Ter)
c.772A>T (p.Lys258Ter)
5g.177260061A>CCA362302941NSD1c.4166A>C (p.Lys1389Thr)
n.4622A>C
c.4730A>C (p.Lys1577Thr)
n.4436A>C
n.5186A>C
c.5039A>C (p.Lys1680Thr)
c.4232A>C (p.Lys1411Thr)
c.533A>C (p.Lys178Thr)
c.4619A>C (p.Lys1540Thr)
c.3983A>C (p.Lys1328Thr)
c.773A>C (p.Lys258Thr)
5g.177260061A>GCA362302943NSD1c.4166A>G (p.Lys1389Arg)
n.4622A>G
c.4730A>G (p.Lys1577Arg)
n.4436A>G
n.5186A>G
c.5039A>G (p.Lys1680Arg)
c.4232A>G (p.Lys1411Arg)
c.533A>G (p.Lys178Arg)
c.4619A>G (p.Lys1540Arg)
c.3983A>G (p.Lys1328Arg)
c.773A>G (p.Lys258Arg)
5g.177260061A>TCA362302944NSD1c.4166A>T (p.Lys1389Met)
n.4622A>T
c.4730A>T (p.Lys1577Met)
n.4436A>T
n.5186A>T
c.5039A>T (p.Lys1680Met)
c.4232A>T (p.Lys1411Met)
c.533A>T (p.Lys178Met)
c.4619A>T (p.Lys1540Met)
c.3983A>T (p.Lys1328Met)
c.773A>T (p.Lys258Met)
5g.177260062G>ACA447726325NSD1c.4167G>A (p.Lys1389=)
n.4623G>A
c.4731G>A (p.Lys1577=)
n.4437G>A
n.5187G>A
c.5040G>A (p.Lys1680=)
c.4233G>A (p.Lys1411=)
c.534G>A (p.Lys178=)
c.4620G>A (p.Lys1540=)
c.3984G>A (p.Lys1328=)
c.774G>A (p.Lys258=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.177260062G>CCA362302951NSD1c.4167G>C (p.Lys1389Asn)
n.4623G>C
c.4731G>C (p.Lys1577Asn)
n.4437G>C
n.5187G>C
c.5040G>C (p.Lys1680Asn)
c.4233G>C (p.Lys1411Asn)
c.534G>C (p.Lys178Asn)
c.4620G>C (p.Lys1540Asn)
c.3984G>C (p.Lys1328Asn)
c.774G>C (p.Lys258Asn)
5g.177260062G=CA1603527108NSD1c.4167G= (p.Lys1389=)
n.4623G=
c.4731G= (p.Lys1577=)
n.4437G=
n.5187G=
c.5040G= (p.Lys1680=)
c.4233G= (p.Lys1411=)
c.534G= (p.Lys178=)
c.4620G= (p.Lys1540=)
c.3984G= (p.Lys1328=)
c.774G= (p.Lys258=)
5g.177260062G>TCA362302954NSD1c.4167G>T (p.Lys1389Asn)
n.4623G>T
c.4731G>T (p.Lys1577Asn)
n.4437G>T
n.5187G>T
c.5040G>T (p.Lys1680Asn)
c.4233G>T (p.Lys1411Asn)
c.534G>T (p.Lys178Asn)
c.4620G>T (p.Lys1540Asn)
c.3984G>T (p.Lys1328Asn)
c.774G>T (p.Lys258Asn)
5g.177260063A>CCA362302956NSD1c.4168A>C (p.Ile1390Leu)
n.4624A>C
c.4732A>C (p.Ile1578Leu)
n.4438A>C
n.5188A>C
c.5041A>C (p.Ile1681Leu)
c.4234A>C (p.Ile1412Leu)
c.535A>C (p.Ile179Leu)
c.4621A>C (p.Ile1541Leu)
c.3985A>C (p.Ile1329Leu)
c.775A>C (p.Ile259Leu)
5g.177260063A>GCA362302963NSD1c.4168A>G (p.Ile1390Val)
n.4624A>G
c.4732A>G (p.Ile1578Val)
n.4438A>G
n.5188A>G
c.5041A>G (p.Ile1681Val)
c.4234A>G (p.Ile1412Val)
c.535A>G (p.Ile179Val)
c.4621A>G (p.Ile1541Val)
c.3985A>G (p.Ile1329Val)
c.775A>G (p.Ile259Val)
 gnomAD v4
5g.177260063A>TCA362302959NSD1c.4168A>T (p.Ile1390Phe)
n.4624A>T
c.4732A>T (p.Ile1578Phe)
n.4438A>T
n.5188A>T
c.5041A>T (p.Ile1681Phe)
c.4234A>T (p.Ile1412Phe)
c.535A>T (p.Ile179Phe)
c.4621A>T (p.Ile1541Phe)
c.3985A>T (p.Ile1329Phe)
c.775A>T (p.Ile259Phe)
5g.177260063_177260064insAAAACAAAAATATTAAATACA2711095160NSD1c.4168_4169insAAAACAAAAATATTAAATA (p.Ile1390LysfsTer11)
n.4624_4625insAAAACAAAAATATTAAATA
c.4732_4733insAAAACAAAAATATTAAATA (p.Ile1578LysfsTer11)
n.4438_4439insAAAACAAAAATATTAAATA
n.5188_5189insAAAACAAAAATATTAAATA
c.5041_5042insAAAACAAAAATATTAAATA (p.Ile1681LysfsTer11)
c.4234_4235insAAAACAAAAATATTAAATA (p.Ile1412LysfsTer11)
c.535_536insAAAACAAAAATATTAAATA (p.Ile179LysfsTer11)
c.4621_4622insAAAACAAAAATATTAAATA (p.Ile1541LysfsTer11)
c.3985_3986insAAAACAAAAATATTAAATA (p.Ile1329LysfsTer11)
c.775_776insAAAACAAAAATATTAAATA (p.Ile259LysfsTer11)
 dbSNP
5g.177260064T>ACA362302967NSD1c.4169T>A (p.Ile1390Asn)
n.4625T>A
c.4733T>A (p.Ile1578Asn)
n.4439T>A
n.5189T>A
c.5042T>A (p.Ile1681Asn)
c.4235T>A (p.Ile1412Asn)
c.536T>A (p.Ile179Asn)
c.4622T>A (p.Ile1541Asn)
c.3986T>A (p.Ile1329Asn)
c.776T>A (p.Ile259Asn)
5g.177260064T>CCA362302970NSD1c.4169T>C (p.Ile1390Thr)
n.4625T>C
c.4733T>C (p.Ile1578Thr)
n.4439T>C
n.5189T>C
c.5042T>C (p.Ile1681Thr)
c.4235T>C (p.Ile1412Thr)
c.536T>C (p.Ile179Thr)
c.4622T>C (p.Ile1541Thr)
c.3986T>C (p.Ile1329Thr)
c.776T>C (p.Ile259Thr)
5g.177260064T>GCA362302973NSD1c.4169T>G (p.Ile1390Ser)
n.4625T>G
c.4733T>G (p.Ile1578Ser)
n.4439T>G
n.5189T>G
c.5042T>G (p.Ile1681Ser)
c.4235T>G (p.Ile1412Ser)
c.536T>G (p.Ile179Ser)
c.4622T>G (p.Ile1541Ser)
c.3986T>G (p.Ile1329Ser)
c.776T>G (p.Ile259Ser)
5g.177260065C>ACA447726327NSD1c.4170C>A (p.Ile1390=)
n.4626C>A
c.4734C>A (p.Ile1578=)
n.4440C>A
n.5190C>A
c.5043C>A (p.Ile1681=)
c.4236C>A (p.Ile1412=)
c.537C>A (p.Ile179=)
c.4623C>A (p.Ile1541=)
c.3987C>A (p.Ile1329=)
c.777C>A (p.Ile259=)
 COSMIC COSMIC
5g.177260065C>GCA362302974NSD1c.4170C>G (p.Ile1390Met)
n.4626C>G
c.4734C>G (p.Ile1578Met)
n.4440C>G
n.5190C>G
c.5043C>G (p.Ile1681Met)
c.4236C>G (p.Ile1412Met)
c.537C>G (p.Ile179Met)
c.4623C>G (p.Ile1541Met)
c.3987C>G (p.Ile1329Met)
c.777C>G (p.Ile259Met)
5g.177260065C>TCA447726328NSD1c.4170C>T (p.Ile1390=)
n.4626C>T
c.4734C>T (p.Ile1578=)
n.4440C>T
n.5190C>T
c.5043C>T (p.Ile1681=)
c.4236C>T (p.Ile1412=)
c.537C>T (p.Ile179=)
c.4623C>T (p.Ile1541=)
c.3987C>T (p.Ile1329=)
c.777C>T (p.Ile259=)
5g.177260066C>ACA362302975NSD1c.4171C>A (p.Leu1391Ile)
n.4627C>A
c.4735C>A (p.Leu1579Ile)
n.4441C>A
n.5191C>A
c.5044C>A (p.Leu1682Ile)
c.4237C>A (p.Leu1413Ile)
c.538C>A (p.Leu180Ile)
c.4624C>A (p.Leu1542Ile)
c.3988C>A (p.Leu1330Ile)
c.778C>A (p.Leu260Ile)
 dbSNP
5g.177260066C>GCA362302976NSD1c.4171C>G (p.Leu1391Val)
n.4627C>G
c.4735C>G (p.Leu1579Val)
n.4441C>G
n.5191C>G
c.5044C>G (p.Leu1682Val)
c.4237C>G (p.Leu1413Val)
c.538C>G (p.Leu180Val)
c.4624C>G (p.Leu1542Val)
c.3988C>G (p.Leu1330Val)
c.778C>G (p.Leu260Val)
5g.177260066C>TCA362302978NSD1c.4171C>T (p.Leu1391Phe)
n.4627C>T
c.4735C>T (p.Leu1579Phe)
n.4441C>T
n.5191C>T
c.5044C>T (p.Leu1682Phe)
c.4237C>T (p.Leu1413Phe)
c.538C>T (p.Leu180Phe)
c.4624C>T (p.Leu1542Phe)
c.3988C>T (p.Leu1330Phe)
c.778C>T (p.Leu260Phe)
5g.177260067T>ACA362302981NSD1c.4172T>A (p.Leu1391His)
n.4628T>A
c.4736T>A (p.Leu1579His)
n.4442T>A
n.5192T>A
c.5045T>A (p.Leu1682His)
c.4238T>A (p.Leu1413His)
c.539T>A (p.Leu180His)
c.4625T>A (p.Leu1542His)
c.3989T>A (p.Leu1330His)
c.779T>A (p.Leu260His)
5g.177260067T>CCA362302982NSD1c.4172T>C (p.Leu1391Pro)
n.4628T>C
c.4736T>C (p.Leu1579Pro)
n.4442T>C
n.5192T>C
c.5045T>C (p.Leu1682Pro)
c.4238T>C (p.Leu1413Pro)
c.539T>C (p.Leu180Pro)
c.4625T>C (p.Leu1542Pro)
c.3989T>C (p.Leu1330Pro)
c.779T>C (p.Leu260Pro)
5g.177260067T>GCA362302984NSD1c.4172T>G (p.Leu1391Arg)
n.4628T>G
c.4736T>G (p.Leu1579Arg)
n.4442T>G
n.5192T>G
c.5045T>G (p.Leu1682Arg)
c.4238T>G (p.Leu1413Arg)
c.539T>G (p.Leu180Arg)
c.4625T>G (p.Leu1542Arg)
c.3989T>G (p.Leu1330Arg)
c.779T>G (p.Leu260Arg)
5g.177260068T>ACA447726330NSD1c.4173T>A (p.Leu1391=)
n.4629T>A
c.4737T>A (p.Leu1579=)
n.4443T>A
n.5193T>A
c.5046T>A (p.Leu1682=)
c.4239T>A (p.Leu1413=)
c.540T>A (p.Leu180=)
c.4626T>A (p.Leu1542=)
c.3990T>A (p.Leu1330=)
c.780T>A (p.Leu260=)
5g.177260068T>CCA447726331NSD1c.4173T>C (p.Leu1391=)
n.4629T>C
c.4737T>C (p.Leu1579=)
n.4443T>C
n.5193T>C
c.5046T>C (p.Leu1682=)
c.4239T>C (p.Leu1413=)
c.540T>C (p.Leu180=)
c.4626T>C (p.Leu1542=)
c.3990T>C (p.Leu1330=)
c.780T>C (p.Leu260=)
5g.177260068T>GCA447726332NSD1c.4173T>G (p.Leu1391=)
n.4629T>G
c.4737T>G (p.Leu1579=)
n.4443T>G
n.5193T>G
c.5046T>G (p.Leu1682=)
c.4239T>G (p.Leu1413=)
c.540T>G (p.Leu180=)
c.4626T>G (p.Leu1542=)
c.3990T>G (p.Leu1330=)
c.780T>G (p.Leu260=)
 ClinVar gnomAD v4
5g.177260069G>ACA362302986NSD1c.4174G>A (p.Ala1392Thr)
n.4630G>A
c.4738G>A (p.Ala1580Thr)
n.4444G>A
n.5194G>A
c.5047G>A (p.Ala1683Thr)
c.4240G>A (p.Ala1414Thr)
c.541G>A (p.Ala181Thr)
c.4627G>A (p.Ala1543Thr)
c.3991G>A (p.Ala1331Thr)
c.781G>A (p.Ala261Thr)
5g.177260069G>CCA362302987NSD1c.4174G>C (p.Ala1392Pro)
n.4630G>C
c.4738G>C (p.Ala1580Pro)
n.4444G>C
n.5194G>C
c.5047G>C (p.Ala1683Pro)
c.4240G>C (p.Ala1414Pro)
c.541G>C (p.Ala181Pro)
c.4627G>C (p.Ala1543Pro)
c.3991G>C (p.Ala1331Pro)
c.781G>C (p.Ala261Pro)
 dbSNP
5g.177260069G>TCA362302988NSD1c.4174G>T (p.Ala1392Ser)
n.4630G>T
c.4738G>T (p.Ala1580Ser)
n.4444G>T
n.5194G>T
c.5047G>T (p.Ala1683Ser)
c.4240G>T (p.Ala1414Ser)
c.541G>T (p.Ala181Ser)
c.4627G>T (p.Ala1543Ser)
c.3991G>T (p.Ala1331Ser)
c.781G>T (p.Ala261Ser)
5g.177260070C>ACA362302994NSD1c.4175C>A (p.Ala1392Glu)
n.4631C>A
c.4739C>A (p.Ala1580Glu)
n.4445C>A
n.5195C>A
c.5048C>A (p.Ala1683Glu)
c.4241C>A (p.Ala1414Glu)
c.542C>A (p.Ala181Glu)
c.4628C>A (p.Ala1543Glu)
c.3992C>A (p.Ala1331Glu)
c.782C>A (p.Ala261Glu)
5g.177260070C>GCA362302992NSD1c.4175C>G (p.Ala1392Gly)
n.4631C>G
c.4739C>G (p.Ala1580Gly)
n.4445C>G
n.5195C>G
c.5048C>G (p.Ala1683Gly)
c.4241C>G (p.Ala1414Gly)
c.542C>G (p.Ala181Gly)
c.4628C>G (p.Ala1543Gly)
c.3992C>G (p.Ala1331Gly)
c.782C>G (p.Ala261Gly)
5g.177260070C>TCA362302990NSD1c.4175C>T (p.Ala1392Val)
n.4631C>T
c.4739C>T (p.Ala1580Val)
n.4445C>T
n.5195C>T
c.5048C>T (p.Ala1683Val)
c.4241C>T (p.Ala1414Val)
c.542C>T (p.Ala181Val)
c.4628C>T (p.Ala1543Val)
c.3992C>T (p.Ala1331Val)
c.782C>T (p.Ala261Val)
5g.177260071A>CCA447726337NSD1c.4176A>C (p.Ala1392=)
n.4632A>C
c.4740A>C (p.Ala1580=)
n.4446A>C
n.5196A>C
c.5049A>C (p.Ala1683=)
c.4242A>C (p.Ala1414=)
c.543A>C (p.Ala181=)
c.4629A>C (p.Ala1543=)
c.3993A>C (p.Ala1331=)
c.783A>C (p.Ala261=)
5g.177260071A>GCA447726336NSD1c.4176A>G (p.Ala1392=)
n.4632A>G
c.4740A>G (p.Ala1580=)
n.4446A>G
n.5196A>G
c.5049A>G (p.Ala1683=)
c.4242A>G (p.Ala1414=)
c.543A>G (p.Ala181=)
c.4629A>G (p.Ala1543=)
c.3993A>G (p.Ala1331=)
c.783A>G (p.Ala261=)
5g.177260071A>TCA447726335NSD1c.4176A>T (p.Ala1392=)
n.4632A>T
c.4740A>T (p.Ala1580=)
n.4446A>T
n.5196A>T
c.5049A>T (p.Ala1683=)
c.4242A>T (p.Ala1414=)
c.543A>T (p.Ala181=)
c.4629A>T (p.Ala1543=)
c.3993A>T (p.Ala1331=)
c.783A>T (p.Ala261=)
5g.177260072T>ACA3577759NSD1c.4177T>A (p.Ser1393Thr)
n.4633T>A
c.4741T>A (p.Ser1581Thr)
n.4447T>A
n.5197T>A
c.5050T>A (p.Ser1684Thr)
c.4243T>A (p.Ser1415Thr)
c.544T>A (p.Ser182Thr)
c.4630T>A (p.Ser1544Thr)
c.3994T>A (p.Ser1332Thr)
c.784T>A (p.Ser262Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.177260072T>CCA362302996NSD1c.4177T>C (p.Ser1393Pro)
n.4633T>C
c.4741T>C (p.Ser1581Pro)
n.4447T>C
n.5197T>C
c.5050T>C (p.Ser1684Pro)
c.4243T>C (p.Ser1415Pro)
c.544T>C (p.Ser182Pro)
c.4630T>C (p.Ser1544Pro)
c.3994T>C (p.Ser1332Pro)
c.784T>C (p.Ser262Pro)
5g.177260072T>GCA362302997NSD1c.4177T>G (p.Ser1393Ala)
n.4633T>G
c.4741T>G (p.Ser1581Ala)
n.4447T>G
n.5197T>G
c.5050T>G (p.Ser1684Ala)
c.4243T>G (p.Ser1415Ala)
c.544T>G (p.Ser182Ala)
c.4630T>G (p.Ser1544Ala)
c.3994T>G (p.Ser1332Ala)
c.784T>G (p.Ser262Ala)
5g.177260072T=CA1603527120NSD1c.4177T= (p.Ser1393=)
n.4633T=
c.4741T= (p.Ser1581=)
n.4447T=
n.5197T=
c.5050T= (p.Ser1684=)
c.4243T= (p.Ser1415=)
c.544T= (p.Ser182=)
c.4630T= (p.Ser1544=)
c.3994T= (p.Ser1332=)
c.784T= (p.Ser262=)
5g.177260073C>ACA362303000NSD1c.4178C>A (p.Ser1393Tyr)
n.4634C>A
c.4742C>A (p.Ser1581Tyr)
n.4448C>A
n.5198C>A
c.5051C>A (p.Ser1684Tyr)
c.4244C>A (p.Ser1415Tyr)
c.545C>A (p.Ser182Tyr)
c.4631C>A (p.Ser1544Tyr)
c.3995C>A (p.Ser1332Tyr)
c.785C>A (p.Ser262Tyr)
5g.177260073C>GCA362303001NSD1c.4178C>G (p.Ser1393Cys)
n.4634C>G
c.4742C>G (p.Ser1581Cys)
n.4448C>G
n.5198C>G
c.5051C>G (p.Ser1684Cys)
c.4244C>G (p.Ser1415Cys)
c.545C>G (p.Ser182Cys)
c.4631C>G (p.Ser1544Cys)
c.3995C>G (p.Ser1332Cys)
c.785C>G (p.Ser262Cys)
5g.177260073C>TCA362303003NSD1c.4178C>T (p.Ser1393Phe)
n.4634C>T
c.4742C>T (p.Ser1581Phe)
n.4448C>T
n.5198C>T
c.5051C>T (p.Ser1684Phe)
c.4244C>T (p.Ser1415Phe)
c.545C>T (p.Ser182Phe)
c.4631C>T (p.Ser1544Phe)
c.3995C>T (p.Ser1332Phe)
c.785C>T (p.Ser262Phe)
5g.177260074T>ACA447726339NSD1c.4179T>A (p.Ser1393=)
n.4635T>A
c.4743T>A (p.Ser1581=)
n.4449T>A
n.5199T>A
c.5052T>A (p.Ser1684=)
c.4245T>A (p.Ser1415=)
c.546T>A (p.Ser182=)
c.4632T>A (p.Ser1544=)
c.3996T>A (p.Ser1332=)
c.786T>A (p.Ser262=)
5g.177260074T>CCA447726341NSD1c.4179T>C (p.Ser1393=)
n.4635T>C
c.4743T>C (p.Ser1581=)
n.4449T>C
n.5199T>C
c.5052T>C (p.Ser1684=)
c.4245T>C (p.Ser1415=)
c.546T>C (p.Ser182=)
c.4632T>C (p.Ser1544=)
c.3996T>C (p.Ser1332=)
c.786T>C (p.Ser262=)
5g.177260074T>GCA447726343NSD1c.4179T>G (p.Ser1393=)
n.4635T>G
c.4743T>G (p.Ser1581=)
n.4449T>G
n.5199T>G
c.5052T>G (p.Ser1684=)
c.4245T>G (p.Ser1415=)
c.546T>G (p.Ser182=)
c.4632T>G (p.Ser1544=)
c.3996T>G (p.Ser1332=)
c.786T>G (p.Ser262=)
5g.177260075A>CCA362303005NSD1c.4180A>C (p.Asn1394His)
n.4636A>C
c.4744A>C (p.Asn1582His)
n.4450A>C
n.5200A>C
c.5053A>C (p.Asn1685His)
c.4246A>C (p.Asn1416His)
c.547A>C (p.Asn183His)
c.4633A>C (p.Asn1545His)
c.3997A>C (p.Asn1333His)
c.787A>C (p.Asn263His)
5g.177260075A>GCA362303006NSD1c.4180A>G (p.Asn1394Asp)
n.4636A>G
c.4744A>G (p.Asn1582Asp)
n.4450A>G
n.5200A>G
c.5053A>G (p.Asn1685Asp)
c.4246A>G (p.Asn1416Asp)
c.547A>G (p.Asn183Asp)
c.4633A>G (p.Asn1545Asp)
c.3997A>G (p.Asn1333Asp)
c.787A>G (p.Asn263Asp)
5g.177260075A>TCA362303007NSD1c.4180A>T (p.Asn1394Tyr)
n.4636A>T
c.4744A>T (p.Asn1582Tyr)
n.4450A>T
n.5200A>T
c.5053A>T (p.Asn1685Tyr)
c.4246A>T (p.Asn1416Tyr)
c.547A>T (p.Asn183Tyr)
c.4633A>T (p.Asn1545Tyr)
c.3997A>T (p.Asn1333Tyr)
c.787A>T (p.Asn263Tyr)
5g.177260076A>CCA362303008NSD1c.4181A>C (p.Asn1394Thr)
n.4637A>C
c.4745A>C (p.Asn1582Thr)
n.4451A>C
n.5201A>C
c.5054A>C (p.Asn1685Thr)
c.4247A>C (p.Asn1416Thr)
c.548A>C (p.Asn183Thr)
c.4634A>C (p.Asn1545Thr)
c.3998A>C (p.Asn1333Thr)
c.788A>C (p.Asn263Thr)
5g.177260076A>GCA362303010NSD1c.4181A>G (p.Asn1394Ser)
n.4637A>G
c.4745A>G (p.Asn1582Ser)
n.4451A>G
n.5201A>G
c.5054A>G (p.Asn1685Ser)
c.4247A>G (p.Asn1416Ser)
c.548A>G (p.Asn183Ser)
c.4634A>G (p.Asn1545Ser)
c.3998A>G (p.Asn1333Ser)
c.788A>G (p.Asn263Ser)
5g.177260076A>TCA362303011NSD1c.4181A>T (p.Asn1394Ile)
n.4637A>T
c.4745A>T (p.Asn1582Ile)
n.4451A>T
n.5201A>T
c.5054A>T (p.Asn1685Ile)
c.4247A>T (p.Asn1416Ile)
c.548A>T (p.Asn183Ile)
c.4634A>T (p.Asn1545Ile)
c.3998A>T (p.Asn1333Ile)
c.788A>T (p.Asn263Ile)
5g.177260077T>ACA362303012NSD1c.4182T>A (p.Asn1394Lys)
n.4638T>A
c.4746T>A (p.Asn1582Lys)
n.4452T>A
n.5202T>A
c.5055T>A (p.Asn1685Lys)
c.4248T>A (p.Asn1416Lys)
c.549T>A (p.Asn183Lys)
c.4635T>A (p.Asn1545Lys)
c.3999T>A (p.Asn1333Lys)
c.789T>A (p.Asn263Lys)
5g.177260077T>CCA447726346NSD1c.4182T>C (p.Asn1394=)
n.4638T>C
c.4746T>C (p.Asn1582=)
n.4452T>C
n.5202T>C
c.5055T>C (p.Asn1685=)
c.4248T>C (p.Asn1416=)
c.549T>C (p.Asn183=)
c.4635T>C (p.Asn1545=)
c.3999T>C (p.Asn1333=)
c.789T>C (p.Asn263=)
5g.177260077T>GCA362303014NSD1c.4182T>G (p.Asn1394Lys)
n.4638T>G
c.4746T>G (p.Asn1582Lys)
n.4452T>G
n.5202T>G
c.5055T>G (p.Asn1685Lys)
c.4248T>G (p.Asn1416Lys)
c.549T>G (p.Asn183Lys)
c.4635T>G (p.Asn1545Lys)
c.3999T>G (p.Asn1333Lys)
c.789T>G (p.Asn263Lys)
5g.177260078A>CCA362303019NSD1c.4183A>C (p.Ser1395Arg)
n.4639A>C
c.4747A>C (p.Ser1583Arg)
n.4453A>C
n.5203A>C
c.5056A>C (p.Ser1686Arg)
c.4249A>C (p.Ser1417Arg)
c.550A>C (p.Ser184Arg)
c.4636A>C (p.Ser1546Arg)
c.4000A>C (p.Ser1334Arg)
c.790A>C (p.Ser264Arg)
5g.177260078A>GCA362303017NSD1c.4183A>G (p.Ser1395Gly)
n.4639A>G
c.4747A>G (p.Ser1583Gly)
n.4453A>G
n.5203A>G
c.5056A>G (p.Ser1686Gly)
c.4249A>G (p.Ser1417Gly)
c.550A>G (p.Ser184Gly)
c.4636A>G (p.Ser1546Gly)
c.4000A>G (p.Ser1334Gly)
c.790A>G (p.Ser264Gly)
5g.177260078A>TCA362303016NSD1c.4183A>T (p.Ser1395Cys)
n.4639A>T
c.4747A>T (p.Ser1583Cys)
n.4453A>T
n.5203A>T
c.5056A>T (p.Ser1686Cys)
c.4249A>T (p.Ser1417Cys)
c.550A>T (p.Ser184Cys)
c.4636A>T (p.Ser1546Cys)
c.4000A>T (p.Ser1334Cys)
c.790A>T (p.Ser264Cys)
5g.177260079G>ACA362303021NSD1c.4184G>A (p.Ser1395Asn)
n.4640G>A
c.4748G>A (p.Ser1583Asn)
n.4454G>A
n.5204G>A
c.5057G>A (p.Ser1686Asn)
c.4250G>A (p.Ser1417Asn)
c.551G>A (p.Ser184Asn)
c.4637G>A (p.Ser1546Asn)
c.4001G>A (p.Ser1334Asn)
c.791G>A (p.Ser264Asn)
5g.177260079G>CCA362303022NSD1c.4184G>C (p.Ser1395Thr)
n.4640G>C
c.4748G>C (p.Ser1583Thr)
n.4454G>C
n.5204G>C
c.5057G>C (p.Ser1686Thr)
c.4250G>C (p.Ser1417Thr)
c.551G>C (p.Ser184Thr)
c.4637G>C (p.Ser1546Thr)
c.4001G>C (p.Ser1334Thr)
c.791G>C (p.Ser264Thr)
5g.177260079G>TCA362303023NSD1c.4184G>T (p.Ser1395Ile)
n.4640G>T
c.4748G>T (p.Ser1583Ile)
n.4454G>T
n.5204G>T
c.5057G>T (p.Ser1686Ile)
c.4250G>T (p.Ser1417Ile)
c.551G>T (p.Ser184Ile)
c.4637G>T (p.Ser1546Ile)
c.4001G>T (p.Ser1334Ile)
c.791G>T (p.Ser264Ile)
5g.177260080T>ACA362303024NSD1c.4185T>A (p.Ser1395Arg)
n.4641T>A
c.4749T>A (p.Ser1583Arg)
n.4455T>A
n.5205T>A
c.5058T>A (p.Ser1686Arg)
c.4251T>A (p.Ser1417Arg)
c.552T>A (p.Ser184Arg)
c.4638T>A (p.Ser1546Arg)
c.4002T>A (p.Ser1334Arg)
c.792T>A (p.Ser264Arg)
5g.177260080T>CCA447726349NSD1c.4185T>C (p.Ser1395=)
n.4641T>C
c.4749T>C (p.Ser1583=)
n.4455T>C
n.5205T>C
c.5058T>C (p.Ser1686=)
c.4251T>C (p.Ser1417=)
c.552T>C (p.Ser184=)
c.4638T>C (p.Ser1546=)
c.4002T>C (p.Ser1334=)
c.792T>C (p.Ser264=)
 gnomAD v4
5g.177260080T>GCA362303026NSD1c.4185T>G (p.Ser1395Arg)
n.4641T>G
c.4749T>G (p.Ser1583Arg)
n.4455T>G
n.5205T>G
c.5058T>G (p.Ser1686Arg)
c.4251T>G (p.Ser1417Arg)
c.552T>G (p.Ser184Arg)
c.4638T>G (p.Ser1546Arg)
c.4002T>G (p.Ser1334Arg)
c.792T>G (p.Ser264Arg)
5g.177260080_177260083delinsTATCCA1603527131NSD1c.4185_4188delinsTATC (p.Ser1395=)
n.4641_4644delinsTATC
c.4749_4752delinsTATC (p.Ser1583=)
n.4455_4458delinsTATC
n.5205_5208delinsTATC
c.5058_5061delinsTATC (p.Ser1686=)
c.4251_4254delinsTATC (p.Ser1417=)
c.552_555delinsTATC (p.Ser184=)
c.4638_4641delinsTATC (p.Ser1546=)
c.4002_4005delinsTATC (p.Ser1334=)
c.792_795delinsTATC (p.Ser264=)
5g.177260081A>CCA362303029NSD1c.4186A>C (p.Ile1396Leu)
n.4642A>C
c.4750A>C (p.Ile1584Leu)
n.4456A>C
n.5206A>C
c.5059A>C (p.Ile1687Leu)
c.4252A>C (p.Ile1418Leu)
c.553A>C (p.Ile185Leu)
c.4639A>C (p.Ile1547Leu)
c.4003A>C (p.Ile1335Leu)
c.793A>C (p.Ile265Leu)
5g.177260081A>GCA362303030NSD1c.4186A>G (p.Ile1396Val)
n.4642A>G
c.4750A>G (p.Ile1584Val)
n.4456A>G
n.5206A>G
c.5059A>G (p.Ile1687Val)
c.4252A>G (p.Ile1418Val)
c.553A>G (p.Ile185Val)
c.4639A>G (p.Ile1547Val)
c.4003A>G (p.Ile1335Val)
c.793A>G (p.Ile265Val)
 gnomAD v4
5g.177260081A>TCA362303031NSD1c.4186A>T (p.Ile1396Phe)
n.4642A>T
c.4750A>T (p.Ile1584Phe)
n.4456A>T
n.5206A>T
c.5059A>T (p.Ile1687Phe)
c.4252A>T (p.Ile1418Phe)
c.553A>T (p.Ile185Phe)
c.4639A>T (p.Ile1547Phe)
c.4003A>T (p.Ile1335Phe)
c.793A>T (p.Ile265Phe)
5g.177260084_177260086delCA658796685NSD1c.4189_4191del (p.Ile1397del)
n.4645_4647del
c.4753_4755del (p.Ile1585del)
n.4459_4461del
n.5209_5211del
c.5062_5064del (p.Ile1688del)
c.4255_4257del (p.Ile1419del)
c.556_558del (p.Ile186del)
c.4642_4644del (p.Ile1548del)
c.4006_4008del (p.Ile1336del)
c.796_798del (p.Ile266del)
 ClinVar dbSNP
5g.177260082T>ACA362303033NSD1c.4187T>A (p.Ile1396Asn)
n.4643T>A
c.4751T>A (p.Ile1584Asn)
n.4457T>A
n.5207T>A
c.5060T>A (p.Ile1687Asn)
c.4253T>A (p.Ile1418Asn)
c.554T>A (p.Ile185Asn)
c.4640T>A (p.Ile1547Asn)
c.4004T>A (p.Ile1335Asn)
c.794T>A (p.Ile265Asn)
5g.177260082T>CCA362303034NSD1c.4187T>C (p.Ile1396Thr)
n.4643T>C
c.4751T>C (p.Ile1584Thr)
n.4457T>C
n.5207T>C
c.5060T>C (p.Ile1687Thr)
c.4253T>C (p.Ile1418Thr)
c.554T>C (p.Ile185Thr)
c.4640T>C (p.Ile1547Thr)
c.4004T>C (p.Ile1335Thr)
c.794T>C (p.Ile265Thr)
5g.177260082T>GCA362303035NSD1c.4187T>G (p.Ile1396Ser)
n.4643T>G
c.4751T>G (p.Ile1584Ser)
n.4457T>G
n.5207T>G
c.5060T>G (p.Ile1687Ser)
c.4253T>G (p.Ile1418Ser)
c.554T>G (p.Ile185Ser)
c.4640T>G (p.Ile1547Ser)
c.4004T>G (p.Ile1335Ser)
c.794T>G (p.Ile265Ser)
5g.177260083C>ACA447726354NSD1c.4188C>A (p.Ile1396=)
n.4644C>A
c.4752C>A (p.Ile1584=)
n.4458C>A
n.5208C>A
c.5061C>A (p.Ile1687=)
c.4254C>A (p.Ile1418=)
c.555C>A (p.Ile185=)
c.4641C>A (p.Ile1547=)
c.4005C>A (p.Ile1335=)
c.795C>A (p.Ile265=)
5g.177260083C=CA1603527149NSD1c.4188C= (p.Ile1396=)
n.4644C=
c.4752C= (p.Ile1584=)
n.4458C=
n.5208C=
c.5061C= (p.Ile1687=)
c.4254C= (p.Ile1418=)
c.555C= (p.Ile185=)
c.4641C= (p.Ile1547=)
c.4005C= (p.Ile1335=)
c.795C= (p.Ile265=)
5g.177260083C>GCA362303037NSD1c.4188C>G (p.Ile1396Met)
n.4644C>G
c.4752C>G (p.Ile1584Met)
n.4458C>G
n.5208C>G
c.5061C>G (p.Ile1687Met)
c.4254C>G (p.Ile1418Met)
c.555C>G (p.Ile185Met)
c.4641C>G (p.Ile1547Met)
c.4005C>G (p.Ile1335Met)
c.795C>G (p.Ile265Met)
5g.177260083C>TCA3577760NSD1c.4188C>T (p.Ile1396=)
n.4644C>T
c.4752C>T (p.Ile1584=)
n.4458C>T
n.5208C>T
c.5061C>T (p.Ile1687=)
c.4254C>T (p.Ile1418=)
c.555C>T (p.Ile185=)
c.4641C>T (p.Ile1547=)
c.4005C>T (p.Ile1335=)
c.795C>T (p.Ile265=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.177260084A>CCA362303043NSD1c.4189A>C (p.Ile1397Leu)
n.4645A>C
c.4753A>C (p.Ile1585Leu)
n.4459A>C
n.5209A>C
c.5062A>C (p.Ile1688Leu)
c.4255A>C (p.Ile1419Leu)
c.556A>C (p.Ile186Leu)
c.4642A>C (p.Ile1548Leu)
c.4006A>C (p.Ile1336Leu)
c.796A>C (p.Ile266Leu)
5g.177260084A>GCA362303040NSD1c.4189A>G (p.Ile1397Val)
n.4645A>G
c.4753A>G (p.Ile1585Val)
n.4459A>G
n.5209A>G
c.5062A>G (p.Ile1688Val)
c.4255A>G (p.Ile1419Val)
c.556A>G (p.Ile186Val)
c.4642A>G (p.Ile1548Val)
c.4006A>G (p.Ile1336Val)
c.796A>G (p.Ile266Val)
 gnomAD v4
5g.177260084A>TCA362303042NSD1c.4189A>T (p.Ile1397Phe)
n.4645A>T
c.4753A>T (p.Ile1585Phe)
n.4459A>T
n.5209A>T
c.5062A>T (p.Ile1688Phe)
c.4255A>T (p.Ile1419Phe)
c.556A>T (p.Ile186Phe)
c.4642A>T (p.Ile1548Phe)
c.4006A>T (p.Ile1336Phe)
c.796A>T (p.Ile266Phe)
5g.177260085T>ACA362303046NSD1c.4190T>A (p.Ile1397Asn)
n.4646T>A
c.4754T>A (p.Ile1585Asn)
n.4460T>A
n.5210T>A
c.5063T>A (p.Ile1688Asn)
c.4256T>A (p.Ile1419Asn)
c.557T>A (p.Ile186Asn)
c.4643T>A (p.Ile1548Asn)
c.4007T>A (p.Ile1336Asn)
c.797T>A (p.Ile266Asn)
5g.177260085T>CCA362303048NSD1c.4190T>C (p.Ile1397Thr)
n.4646T>C
c.4754T>C (p.Ile1585Thr)
n.4460T>C
n.5210T>C
c.5063T>C (p.Ile1688Thr)
c.4256T>C (p.Ile1419Thr)
c.557T>C (p.Ile186Thr)
c.4643T>C (p.Ile1548Thr)
c.4007T>C (p.Ile1336Thr)
c.797T>C (p.Ile266Thr)
5g.177260085T>GCA362303049NSD1c.4190T>G (p.Ile1397Ser)
n.4646T>G
c.4754T>G (p.Ile1585Ser)
n.4460T>G
n.5210T>G
c.5063T>G (p.Ile1688Ser)
c.4256T>G (p.Ile1419Ser)
c.557T>G (p.Ile186Ser)
c.4643T>G (p.Ile1548Ser)
c.4007T>G (p.Ile1336Ser)
c.797T>G (p.Ile266Ser)
5g.177260086C>ACA447726359NSD1c.4191C>A (p.Ile1397=)
n.4647C>A
c.4755C>A (p.Ile1585=)
n.4461C>A
n.5211C>A
c.5064C>A (p.Ile1688=)
c.4257C>A (p.Ile1419=)
c.558C>A (p.Ile186=)
c.4644C>A (p.Ile1548=)
c.4008C>A (p.Ile1336=)
c.798C>A (p.Ile266=)
5g.177260086C>GCA362303050NSD1c.4191C>G (p.Ile1397Met)
n.4647C>G
c.4755C>G (p.Ile1585Met)
n.4461C>G
n.5211C>G
c.5064C>G (p.Ile1688Met)
c.4257C>G (p.Ile1419Met)
c.558C>G (p.Ile186Met)
c.4644C>G (p.Ile1548Met)
c.4008C>G (p.Ile1336Met)
c.798C>G (p.Ile266Met)
5g.177260086C>TCA447726360NSD1c.4191C>T (p.Ile1397=)
n.4647C>T
c.4755C>T (p.Ile1585=)
n.4461C>T
n.5211C>T
c.5064C>T (p.Ile1688=)
c.4257C>T (p.Ile1419=)
c.558C>T (p.Ile186=)
c.4644C>T (p.Ile1548=)
c.4008C>T (p.Ile1336=)
c.798C>T (p.Ile266=)
 dbSNP
5g.177260087T>ACA362303053NSD1c.4192T>A (p.Cys1398Ser)
n.4648T>A
c.4756T>A (p.Cys1586Ser)
n.4462T>A
n.5212T>A
c.5065T>A (p.Cys1689Ser)
c.4258T>A (p.Cys1420Ser)
c.559T>A (p.Cys187Ser)
c.4645T>A (p.Cys1549Ser)
c.4009T>A (p.Cys1337Ser)
c.799T>A (p.Cys267Ser)
5g.177260087T>CCA362303054NSD1c.4192T>C (p.Cys1398Arg)
n.4648T>C
c.4756T>C (p.Cys1586Arg)
n.4462T>C
n.5212T>C
c.5065T>C (p.Cys1689Arg)
c.4258T>C (p.Cys1420Arg)
c.559T>C (p.Cys187Arg)
c.4645T>C (p.Cys1549Arg)
c.4009T>C (p.Cys1337Arg)
c.799T>C (p.Cys267Arg)
5g.177260087T>GCA362303056NSD1c.4192T>G (p.Cys1398Gly)
n.4648T>G
c.4756T>G (p.Cys1586Gly)
n.4462T>G
n.5212T>G
c.5065T>G (p.Cys1689Gly)
c.4258T>G (p.Cys1420Gly)
c.559T>G (p.Cys187Gly)
c.4645T>G (p.Cys1549Gly)
c.4009T>G (p.Cys1337Gly)
c.799T>G (p.Cys267Gly)

Number of alleles fetched