Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.177259968T>C | CA2676689659 | NSD1 | c.4094-21T>C (n.4094-21T>C) n.4550-21T>C c.4658-21T>C (n.4658-21T>C) n.4364-21T>C n.5114-21T>C c.4967-21T>C (n.4967-21T>C) c.4160-21T>C (n.4160-21T>C) c.461-21T>C (n.461-21T>C) c.4547-21T>C (n.4547-21T>C) c.3911-21T>C (n.3911-21T>C) c.701-21T>C (n.701-21T>C) | gnomAD v4 |
5 | g.177259969C= | CA1603526946 | NSD1 | c.4094-20C= (n.4094-20C=) n.4550-20C= c.4658-20C= (n.4658-20C=) n.4364-20C= n.5114-20C= c.4967-20C= (n.4967-20C=) c.4160-20C= (n.4160-20C=) c.461-20C= (n.461-20C=) c.4547-20C= (n.4547-20C=) c.3911-20C= (n.3911-20C=) c.701-20C= (n.701-20C=) | |
5 | g.177259969C>T | CA3577751 | NSD1 | c.4094-20C>T (n.4094-20C>T) n.4550-20C>T c.4658-20C>T (n.4658-20C>T) n.4364-20C>T n.5114-20C>T c.4967-20C>T (n.4967-20C>T) c.4160-20C>T (n.4160-20C>T) c.461-20C>T (n.461-20C>T) c.4547-20C>T (n.4547-20C>T) c.3911-20C>T (n.3911-20C>T) c.701-20C>T (n.701-20C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.177259970C= | CA1603526949 | NSD1 | c.4094-19C= (n.4094-19C=) n.4550-19C= c.4658-19C= (n.4658-19C=) n.4364-19C= n.5114-19C= c.4967-19C= (n.4967-19C=) c.4160-19C= (n.4160-19C=) c.461-19C= (n.461-19C=) c.4547-19C= (n.4547-19C=) c.3911-19C= (n.3911-19C=) c.701-19C= (n.701-19C=) | |
5 | g.177259970C>G | CA1084806989 | NSD1 | c.4094-19C>G (n.4094-19C>G) n.4550-19C>G c.4658-19C>G (n.4658-19C>G) n.4364-19C>G n.5114-19C>G c.4967-19C>G (n.4967-19C>G) c.4160-19C>G (n.4160-19C>G) c.461-19C>G (n.461-19C>G) c.4547-19C>G (n.4547-19C>G) c.3911-19C>G (n.3911-19C>G) c.701-19C>G (n.701-19C>G) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.177259970C>T | CA2710800146 | NSD1 | c.4094-19C>T (n.4094-19C>T) n.4550-19C>T c.4658-19C>T (n.4658-19C>T) n.4364-19C>T n.5114-19C>T c.4967-19C>T (n.4967-19C>T) c.4160-19C>T (n.4160-19C>T) c.461-19C>T (n.461-19C>T) c.4547-19C>T (n.4547-19C>T) c.3911-19C>T (n.3911-19C>T) c.701-19C>T (n.701-19C>T) | dbSNP |
5 | g.177259971C>A | CA2711094846 | NSD1 | c.4094-18C>A (n.4094-18C>A) n.4550-18C>A c.4658-18C>A (n.4658-18C>A) n.4364-18C>A n.5114-18C>A c.4967-18C>A (n.4967-18C>A) c.4160-18C>A (n.4160-18C>A) c.461-18C>A (n.461-18C>A) c.4547-18C>A (n.4547-18C>A) c.3911-18C>A (n.3911-18C>A) c.701-18C>A (n.701-18C>A) | dbSNP |
5 | g.177259972T>C | CA3577752 | NSD1 | c.4094-17T>C (n.4094-17T>C) n.4550-17T>C c.4658-17T>C (n.4658-17T>C) n.4364-17T>C n.5114-17T>C c.4967-17T>C (n.4967-17T>C) c.4160-17T>C (n.4160-17T>C) c.461-17T>C (n.461-17T>C) c.4547-17T>C (n.4547-17T>C) c.3911-17T>C (n.3911-17T>C) c.701-17T>C (n.701-17T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.177259972T= | CA1603526950 | NSD1 | c.4094-17T= (n.4094-17T=) n.4550-17T= c.4658-17T= (n.4658-17T=) n.4364-17T= n.5114-17T= c.4967-17T= (n.4967-17T=) c.4160-17T= (n.4160-17T=) c.461-17T= (n.461-17T=) c.4547-17T= (n.4547-17T=) c.3911-17T= (n.3911-17T=) c.701-17T= (n.701-17T=) | |
5 | g.177259973G>C | CA2676689660 | NSD1 | c.4094-16G>C (n.4094-16G>C) n.4550-16G>C c.4658-16G>C (n.4658-16G>C) n.4364-16G>C n.5114-16G>C c.4967-16G>C (n.4967-16G>C) c.4160-16G>C (n.4160-16G>C) c.461-16G>C (n.461-16G>C) c.4547-16G>C (n.4547-16G>C) c.3911-16G>C (n.3911-16G>C) c.701-16G>C (n.701-16G>C) | gnomAD v4 |
5 | g.177259976T>A | CA2578494948 | NSD1 | c.4094-13T>A (n.4094-13T>A) n.4550-13T>A c.4658-13T>A (n.4658-13T>A) n.4364-13T>A n.5114-13T>A c.4967-13T>A (n.4967-13T>A) c.4160-13T>A (n.4160-13T>A) c.461-13T>A (n.461-13T>A) c.4547-13T>A (n.4547-13T>A) c.3911-13T>A (n.3911-13T>A) c.701-13T>A (n.701-13T>A) | |
5 | g.177259976T>C | CA808066530 | NSD1 | c.4094-13T>C (n.4094-13T>C) n.4550-13T>C c.4658-13T>C (n.4658-13T>C) n.4364-13T>C n.5114-13T>C c.4967-13T>C (n.4967-13T>C) c.4160-13T>C (n.4160-13T>C) c.461-13T>C (n.461-13T>C) c.4547-13T>C (n.4547-13T>C) c.3911-13T>C (n.3911-13T>C) c.701-13T>C (n.701-13T>C) | dbSNP |
5 | g.177259976T= | CA1603526952 | NSD1 | c.4094-13T= (n.4094-13T=) n.4550-13T= c.4658-13T= (n.4658-13T=) n.4364-13T= n.5114-13T= c.4967-13T= (n.4967-13T=) c.4160-13T= (n.4160-13T=) c.461-13T= (n.461-13T=) c.4547-13T= (n.4547-13T=) c.3911-13T= (n.3911-13T=) c.701-13T= (n.701-13T=) | |
5 | g.177259977T>A | CA808066532 | NSD1 | c.4094-12T>A (n.4094-12T>A) n.4550-12T>A c.4658-12T>A (n.4658-12T>A) n.4364-12T>A n.5114-12T>A c.4967-12T>A (n.4967-12T>A) c.4160-12T>A (n.4160-12T>A) c.461-12T>A (n.461-12T>A) c.4547-12T>A (n.4547-12T>A) c.3911-12T>A (n.3911-12T>A) c.701-12T>A (n.701-12T>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
5 | g.177259977T= | CA1603526953 | NSD1 | c.4094-12T= (n.4094-12T=) n.4550-12T= c.4658-12T= (n.4658-12T=) n.4364-12T= n.5114-12T= c.4967-12T= (n.4967-12T=) c.4160-12T= (n.4160-12T=) c.461-12T= (n.461-12T=) c.4547-12T= (n.4547-12T=) c.3911-12T= (n.3911-12T=) c.701-12T= (n.701-12T=) | |
5 | g.177259978T>C | CA808066541 | NSD1 | c.4094-11T>C (n.4094-11T>C) n.4550-11T>C c.4658-11T>C (n.4658-11T>C) n.4364-11T>C n.5114-11T>C c.4967-11T>C (n.4967-11T>C) c.4160-11T>C (n.4160-11T>C) c.461-11T>C (n.461-11T>C) c.4547-11T>C (n.4547-11T>C) c.3911-11T>C (n.3911-11T>C) c.701-11T>C (n.701-11T>C) | dbSNP |
5 | g.177259978T= | CA1603526954 | NSD1 | c.4094-11T= (n.4094-11T=) n.4550-11T= c.4658-11T= (n.4658-11T=) n.4364-11T= n.5114-11T= c.4967-11T= (n.4967-11T=) c.4160-11T= (n.4160-11T=) c.461-11T= (n.461-11T=) c.4547-11T= (n.4547-11T=) c.3911-11T= (n.3911-11T=) c.701-11T= (n.701-11T=) | |
5 | g.177259979C= | CA1603526956 | NSD1 | c.4094-10C= (n.4094-10C=) n.4550-10C= c.4658-10C= (n.4658-10C=) n.4364-10C= n.5114-10C= c.4967-10C= (n.4967-10C=) c.4160-10C= (n.4160-10C=) c.461-10C= (n.461-10C=) c.4547-10C= (n.4547-10C=) c.3911-10C= (n.3911-10C=) c.701-10C= (n.701-10C=) | |
5 | g.177259979C>T | CA3577753 | NSD1 | c.4094-10C>T (n.4094-10C>T) n.4550-10C>T c.4658-10C>T (n.4658-10C>T) n.4364-10C>T n.5114-10C>T c.4967-10C>T (n.4967-10C>T) c.4160-10C>T (n.4160-10C>T) c.461-10C>T (n.461-10C>T) c.4547-10C>T (n.4547-10C>T) c.3911-10C>T (n.3911-10C>T) c.701-10C>T (n.701-10C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.177259980C= | CA1603526959 | NSD1 | c.4094-9C= (n.4094-9C=) n.4550-9C= c.4658-9C= (n.4658-9C=) n.4364-9C= n.5114-9C= c.4967-9C= (n.4967-9C=) c.4160-9C= (n.4160-9C=) c.461-9C= (n.461-9C=) c.4547-9C= (n.4547-9C=) c.3911-9C= (n.3911-9C=) c.701-9C= (n.701-9C=) | |
5 | g.177259980C>T | CA808066547 | NSD1 | c.4094-9C>T (n.4094-9C>T) n.4550-9C>T c.4658-9C>T (n.4658-9C>T) n.4364-9C>T n.5114-9C>T c.4967-9C>T (n.4967-9C>T) c.4160-9C>T (n.4160-9C>T) c.461-9C>T (n.461-9C>T) c.4547-9C>T (n.4547-9C>T) c.3911-9C>T (n.3911-9C>T) c.701-9C>T (n.701-9C>T) | dbSNP gnomAD v4 |
5 | g.177259982G= | CA1603526967 | NSD1 | c.4094-7G= (n.4094-7G=) n.4550-7G= c.4658-7G= (n.4658-7G=) n.4364-7G= n.5114-7G= c.4967-7G= (n.4967-7G=) c.4160-7G= (n.4160-7G=) c.461-7G= (n.461-7G=) c.4547-7G= (n.4547-7G=) c.3911-7G= (n.3911-7G=) c.701-7G= (n.701-7G=) | |
5 | g.177259982G>T | CA1139771541 | NSD1 | c.4094-7G>T (n.4094-7G>T) n.4550-7G>T c.4658-7G>T (n.4658-7G>T) n.4364-7G>T n.5114-7G>T c.4967-7G>T (n.4967-7G>T) c.4160-7G>T (n.4160-7G>T) c.461-7G>T (n.461-7G>T) c.4547-7G>T (n.4547-7G>T) c.3911-7G>T (n.3911-7G>T) c.701-7G>T (n.701-7G>T) | dbSNP gnomAD v4 |
5 | g.177259985T>G | CA3577754 | NSD1 | c.4094-4T>G (n.4094-4T>G) n.4550-4T>G c.4658-4T>G (n.4658-4T>G) n.4364-4T>G n.5114-4T>G c.4967-4T>G (n.4967-4T>G) c.4160-4T>G (n.4160-4T>G) c.461-4T>G (n.461-4T>G) c.4547-4T>G (n.4547-4T>G) c.3911-4T>G (n.3911-4T>G) c.701-4T>G (n.701-4T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.177259985T= | CA1603526971 | NSD1 | c.4094-4T= (n.4094-4T=) n.4550-4T= c.4658-4T= (n.4658-4T=) n.4364-4T= n.5114-4T= c.4967-4T= (n.4967-4T=) c.4160-4T= (n.4160-4T=) c.461-4T= (n.461-4T=) c.4547-4T= (n.4547-4T=) c.3911-4T= (n.3911-4T=) c.701-4T= (n.701-4T=) | |
5 | g.177259987A= | CA1603526977 | NSD1 | c.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=) | |
5 | g.177259987A>C | CA362302415 | NSD1 | c.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) | |
5 | g.177259987A>G | CA362302418 | NSD1 | c.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) | |
5 | g.177259987A>T | CA294926 | NSD1 | c.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 |
5 | g.177259988G>A | CA362302423 | NSD1 | c.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) | |
5 | g.177259988G>C | CA362302430 | NSD1 | c.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) | |
5 | g.177259988G>T | CA362302427 | NSD1 | c.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) | |
5 | g.177259989G>A | CA362302435 | NSD1 | c.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) | |
5 | g.177259989G>C | CA362302438 | NSD1 | c.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) | |
5 | g.177259989G>T | CA362302440 | NSD1 | c.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 |
5 | g.177259990T>A | CA447726227 | NSD1 | c.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 |
5 | g.177259990T>C | CA447726228 | NSD1 | c.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=) | |
5 | g.177259990T>G | CA447726229 | NSD1 | c.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=) | |
5 | g.177259991C>A | CA447726230 | NSD1 | c.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=) | |
5 | g.177259991C>G | CA362302443 | NSD1 | c.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) | |
5 | g.177259991C>T | CA362302447 | NSD1 | c.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 |
5 | g.177259992G>A | CA362302452 | NSD1 | c.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 |
5 | g.177259992G>C | CA362302453 | NSD1 | c.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) | |
5 | g.177259992G= | CA1603526991 | NSD1 | c.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=) | |
5 | g.177259992G>T | CA362302457 | NSD1 | c.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) | |
5 | g.177259993G>A | CA447726231 | NSD1 | c.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 |
5 | g.177259993G>C | CA447726233 | NSD1 | c.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=) | |
5 | g.177259993G>T | CA447726232 | NSD1 | c.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=) | |
5 | g.177259994_177259996del | CA2573320528 | NSD1 | c.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 |
5 | g.177259994T>A | CA362302462 | NSD1 | c.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) | |
5 | g.177259994T>C | CA447726234 | NSD1 | c.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=) | |
5 | g.177259994T>G | CA362302465 | NSD1 | c.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) | |
5 | g.177259995T>A | CA132830135 | NSD1 | c.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 |
5 | g.177259995T>C | CA362302472 | NSD1 | c.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) | |
5 | g.177259995T>G | CA362302468 | NSD1 | c.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) | |
5 | g.177259995T= | CA1603526994 | NSD1 | c.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=) | |
5 | g.177259996G>A | CA447726235 | NSD1 | c.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 |
5 | g.177259996G>C | CA362302478 | NSD1 | c.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) | |
5 | g.177259996G>T | CA362302479 | NSD1 | c.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) | |
5 | g.177259997A>C | CA362302486 | NSD1 | c.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) | |
5 | g.177259997A>G | CA362302488 | NSD1 | c.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) | |
5 | g.177259997A>T | CA362302491 | NSD1 | c.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) | |
5 | g.177259998T>A | CA362302502 | NSD1 | c.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) | |
5 | g.177259998T>C | CA362302499 | NSD1 | c.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 |
5 | g.177259998T>G | CA362302496 | NSD1 | c.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) | |
5 | g.177259998T= | CA1603526999 | NSD1 | c.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=) | |
5 | g.177259999G>A | CA362302505 | NSD1 | c.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) | |
5 | g.177259999G>C | CA362302507 | NSD1 | c.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) | |
5 | g.177259999G>T | CA362302509 | NSD1 | c.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) | |
5 | g.177259999dup | CA891843271 | NSD1 | c.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 |
5 | g.177260000C>A | CA362302512 | NSD1 | c.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) | |
5 | g.177260000C>G | CA362302514 | NSD1 | c.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) | |
5 | g.177260000C>T | CA362302516 | NSD1 | c.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 |
5 | g.177260001G>A | CA362302521 | NSD1 | c.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 |
5 | g.177260001G>C | CA362302525 | NSD1 | c.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) | |
5 | g.177260001G>T | CA362302524 | NSD1 | c.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) | |
5 | g.177260002C>A | CA447726239 | NSD1 | c.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=) | |
5 | g.177260002C>G | CA447726240 | NSD1 | c.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=) | |
5 | g.177260002C>T | CA447726243 | NSD1 | c.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=) | |
5 | g.177260003T>A | CA362302530 | NSD1 | c.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) | |
5 | g.177260003T>C | CA362302533 | NSD1 | c.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) | |
5 | g.177260003T>G | CA362302534 | NSD1 | c.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) | |
5 | g.177260004G>A | CA362302539 | NSD1 | c.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 |
5 | g.177260004G>C | CA362302541 | NSD1 | c.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) | |
5 | g.177260004G>T | CA362302543 | NSD1 | c.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) | |
5 | g.177260005T>A | CA362302547 | NSD1 | c.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) | |
5 | g.177260005T>C | CA447726248 | NSD1 | c.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=) | |
5 | g.177260005T>G | CA362302550 | NSD1 | c.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) | |
5 | g.177260006G>A | CA362302552 | NSD1 | c.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) | |
5 | g.177260006G>C | CA362302554 | NSD1 | c.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) | |
5 | g.177260006G>T | CA362302557 | NSD1 | c.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) | |
5 | g.177260007T>A | CA362302561 | NSD1 | c.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) | |
5 | g.177260007T>C | CA362302566 | NSD1 | c.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) | |
5 | g.177260007T>G | CA362302565 | NSD1 | c.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) | |
5 | g.177260008C>A | CA447726252 | NSD1 | c.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=) | |
5 | g.177260008C= | CA1603527013 | NSD1 | c.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=) | |
5 | g.177260008C>G | CA447726253 | NSD1 | c.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 |
5 | g.177260008C>T | CA132830140 | NSD1 | c.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 |
5 | g.177260009C>A | CA362302570 | NSD1 | c.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) | |
5 | g.177260009C= | CA1603527017 | NSD1 | c.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=) | |
5 | g.177260009C>G | CA362302572 | NSD1 | c.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) | |
5 | g.177260009C>T | CA294927 | NSD1 | c.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 |
5 | g.177260010G>A | CA362302577 | NSD1 | c.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 |
5 | g.177260010G>C | CA362302579 | NSD1 | c.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) | |
5 | g.177260010G= | CA1603527026 | NSD1 | c.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=) | |
5 | g.177260010G>T | CA362302582 | NSD1 | c.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) | |
5 | g.177260011C>A | CA447726254 | NSD1 | c.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=) | |
5 | g.177260011C>G | CA447726256 | NSD1 | c.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=) | |
5 | g.177260011C>T | CA447726258 | NSD1 | c.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=) | |
5 | g.177260012T>A | CA362302584 | NSD1 | c.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) | |
5 | g.177260012T>C | CA362302588 | NSD1 | c.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) | |
5 | g.177260012T>G | CA362302591 | NSD1 | c.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) | |
5 | g.177260013G>A | CA362302595 | NSD1 | c.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 |
5 | g.177260013G>C | CA362302596 | NSD1 | c.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) | |
5 | g.177260013G>T | CA362302599 | NSD1 | c.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) | |
5 | g.177260014T>A | CA362302602 | NSD1 | c.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) | |
5 | g.177260014T>C | CA447726262 | NSD1 | c.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=) | |
5 | g.177260014T>G | CA362302605 | NSD1 | c.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) | |
5 | g.177260015C>A | CA362302615 | NSD1 | c.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) | |
5 | g.177260015C>G | CA362302612 | NSD1 | c.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) | |
5 | g.177260015C>T | CA362302609 | NSD1 | c.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) | |
5 | g.177260016C>A | CA362302618 | NSD1 | c.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 |
5 | g.177260016C>G | CA362302620 | NSD1 | c.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) | |
5 | g.177260016C>T | CA362302623 | NSD1 | c.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 |
5 | g.177260017T>A | CA447726266 | NSD1 | c.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=) | |
5 | g.177260017T>C | CA447726267 | NSD1 | c.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 |
5 | g.177260017T>G | CA447726269 | NSD1 | c.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=) | |
5 | g.177260017T= | CA1603527033 | NSD1 | c.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=) | |
5 | g.177260018G>A | CA362302626 | NSD1 | c.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 |
5 | g.177260018G>C | CA362302629 | NSD1 | c.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) | |
5 | g.177260018G>T | CA362302632 | NSD1 | c.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) | |
5 | g.177260019T>A | CA362302636 | NSD1 | c.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) | |
5 | g.177260019T>C | CA362302637 | NSD1 | c.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) | |
5 | g.177260019T>G | CA362302640 | NSD1 | c.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) | |
5 | g.177260020G>A | CA447726273 | NSD1 | c.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=) | |
5 | g.177260020G>C | CA447726275 | NSD1 | c.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=) | |
5 | g.177260020G>T | CA447726274 | NSD1 | c.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=) | |
5 | g.177260021G>A | CA362302643 | NSD1 | c.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 |
5 | g.177260021G>C | CA362302646 | NSD1 | c.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) | |
5 | g.177260021G>T | CA362302650 | NSD1 | c.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) | |
5 | g.177260022C>A | CA362302653 | NSD1 | c.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) | |
5 | g.177260022C>G | CA362302656 | NSD1 | c.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) | |
5 | g.177260022C>T | CA362302659 | NSD1 | c.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 |
5 | g.177260023A= | CA1603527040 | NSD1 | c.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=) | |
5 | g.177260023A>C | CA447726277 | NSD1 | c.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 |
5 | g.177260023A>G | CA447726278 | NSD1 | c.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=) | |
5 | g.177260023A>T | CA447726279 | NSD1 | c.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=) | |
5 | g.177260024T>A | CA362302667 | NSD1 | c.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) | |
5 | g.177260024T>C | CA362302668 | NSD1 | c.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) | |
5 | g.177260024T>G | CA362302664 | NSD1 | c.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) | |
5 | g.177260025A>C | CA362302675 | NSD1 | c.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) | |
5 | g.177260025A>G | CA362302676 | NSD1 | c.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) | |
5 | g.177260025A>T | CA362302680 | NSD1 | c.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) | |
5 | g.177260026C>A | CA362302683 | NSD1 | c.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) | |
5 | g.177260026C>G | CA362302685 | NSD1 | c.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) | |
5 | g.177260026C>T | CA447726284 | NSD1 | c.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 |
5 | g.177260027C>A | CA362302697 | NSD1 | c.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) | |
5 | g.177260027C>G | CA362302694 | NSD1 | c.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) | |
5 | g.177260027C>T | CA362302690 | NSD1 | c.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 |
5 | g.177260028A>C | CA362302700 | NSD1 | c.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) | |
5 | g.177260028A>G | CA362302703 | NSD1 | c.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) | |
5 | g.177260028A>T | CA362302705 | NSD1 | c.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) | |
5 | g.177260029C>A | CA362302708 | NSD1 | c.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) | |
5 | g.177260029C= | CA1603527053 | NSD1 | c.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=) | |
5 | g.177260029C>G | CA362302709 | NSD1 | c.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 |
5 | g.177260029C>T | CA3577755 | NSD1 | c.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 |
5 | g.177260030G>A | CA362302714 | NSD1 | c.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 |
5 | g.177260030G>C | CA362302719 | NSD1 | c.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) | |
5 | g.177260030G= | CA1603527058 | NSD1 | c.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=) | |
5 | g.177260030G>T | CA362302717 | NSD1 | c.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) | |
5 | g.177260030dup | CA2695205807 | NSD1 | c.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) | |
5 | g.177260031C>A | CA362302725 | NSD1 | c.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) | |
5 | g.177260031C>G | CA362302727 | NSD1 | c.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 |
5 | g.177260031C>T | CA362302729 | NSD1 | c.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) | |
5 | g.177260032C>A | CA447726288 | NSD1 | c.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=) | |
5 | g.177260032C= | CA1603527063 | NSD1 | c.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=) | |
5 | g.177260032C>G | CA447726289 | NSD1 | c.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=) | |
5 | g.177260032C>T | CA447726290 | NSD1 | c.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 |
5 | g.177260033A>C | CA362302733 | NSD1 | c.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) | |
5 | g.177260033A>G | CA362302737 | NSD1 | c.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) | |
5 | g.177260033A>T | CA362302739 | NSD1 | c.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) | |
5 | g.177260034A= | CA1603527068 | NSD1 | c.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=) | |
5 | g.177260034A>C | CA362302743 | NSD1 | c.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) | |
5 | g.177260034A>G | CA3577756 | NSD1 | c.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 |
5 | g.177260034A>T | CA362302746 | NSD1 | c.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) | |
5 | g.177260035T>A | CA362302750 | NSD1 | c.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 |
5 | g.177260035T>C | CA447726296 | NSD1 | c.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 |
5 | g.177260035T>G | CA362302753 | NSD1 | c.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) | |
5 | g.177260035T= | CA1603527072 | NSD1 | c.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=) | |
5 | g.177260036G>A | CA362302754 | NSD1 | c.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) | |
5 | g.177260036G>C | CA362302759 | NSD1 | c.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) | |
5 | g.177260036G>T | CA362302757 | NSD1 | c.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) | |
5 | g.177260037A>C | CA362302761 | NSD1 | c.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) | |
5 | g.177260037A>G | CA362302770 | NSD1 | c.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) | |
5 | g.177260037A>T | CA362302765 | NSD1 | c.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) | |
5 | g.177260038C>A | CA362302772 | NSD1 | c.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) | |
5 | g.177260038C>G | CA362302774 | NSD1 | c.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) | |
5 | g.177260038C>T | CA447726298 | NSD1 | c.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=) | |
5 | g.177260038_177260039delinsCT | CA1603527077 | NSD1 | c.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=) | |
5 | g.177260039T>A | CA362302777 | NSD1 | c.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) | |
5 | g.177260039T>C | CA362302779 | NSD1 | c.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) | |
5 | g.177260039T>G | CA362302782 | NSD1 | c.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 |
5 | g.177260042del | CA915942755 | NSD1 | c.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 |
5 | g.177260041_177260042del | CA2837994527 | NSD1 | c.4146_4147del (p.Phe1382LeufsTer12) n.4602_4603del c.4710_4711del (p.Phe1570LeufsTer12) n.4416_4417del n.5166_5167del c.5019_5020del (p.Phe1673LeufsTer12) c.4212_4213del (p.Phe1404LeufsTer12) c.513_514del (p.Phe171LeufsTer12) c.4599_4600del (p.Phe1533LeufsTer12) c.3963_3964del (p.Phe1321LeufsTer12) c.753_754del (p.Phe251LeufsTer12) | |
5 | g.177260040T>A | CA362302785 | NSD1 | c.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) | |
5 | g.177260040T>C | CA362302787 | NSD1 | c.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) | |
5 | g.177260040T>G | CA362302789 | NSD1 | c.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) | |
5 | g.177260041T>A | CA362302793 | NSD1 | c.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) | |
5 | g.177260041T>C | CA447726304 | NSD1 | c.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=) | |
5 | g.177260041T>G | CA362302796 | NSD1 | c.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 |
5 | g.177260042T>A | CA362302806 | NSD1 | c.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) | |
5 | g.177260042T>C | CA362302809 | NSD1 | c.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) | |
5 | g.177260042T>G | CA362302811 | NSD1 | c.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) | |
5 | g.177260043G>A | CA294930 | NSD1 | c.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 |
5 | g.177260043G>C | CA10607041 | NSD1 | c.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 |
5 | g.177260043G= | CA1603527084 | NSD1 | c.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=) | |
5 | g.177260043G>T | CA362302819 | NSD1 | c.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) | |
5 | g.177260044C>A | CA362302820 | NSD1 | c.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 |
5 | g.177260044C>G | CA362302826 | NSD1 | c.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) | |
5 | g.177260044C>T | CA447726306 | NSD1 | c.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 |
5 | g.177260045C>A | CA362302830 | NSD1 | c.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) | |
5 | g.177260045C>G | CA362302831 | NSD1 | c.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) | |
5 | g.177260045C>T | CA447726308 | NSD1 | c.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=) | |
5 | g.177260046T>A | CA362302835 | NSD1 | c.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) | |
5 | g.177260046T>C | CA362302837 | NSD1 | c.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) | |
5 | g.177260046T>G | CA362302841 | NSD1 | c.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) | |
5 | g.177260047G>A | CA447726309 | NSD1 | c.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=) | |
5 | g.177260047G>C | CA447726311 | NSD1 | c.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 |
5 | g.177260047G= | CA1603527090 | NSD1 | c.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=) | |
5 | g.177260047G>T | CA447726312 | NSD1 | c.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=) | |
5 | g.177260048G>A | CA362302845 | NSD1 | c.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 |
5 | g.177260048G>C | CA362302847 | NSD1 | c.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) | |
5 | g.177260048G= | CA1603527094 | NSD1 | c.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=) | |
5 | g.177260048G>T | CA362302850 | NSD1 | c.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) | |
5 | g.177260049C>A | CA362302871 | NSD1 | c.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 |
5 | g.177260049C>G | CA362302870 | NSD1 | c.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) | |
5 | g.177260049C>T | CA362302853 | NSD1 | c.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) | |
5 | g.177260049dup | CA2695205808 | NSD1 | c.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) | |
5 | g.177260050T>A | CA447726315 | NSD1 | c.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=) | |
5 | g.177260050T>C | CA447726314 | NSD1 | c.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=) | |
5 | g.177260050T>G | CA447726313 | NSD1 | c.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=) | |
5 | g.177260051G>A | CA362302878 | NSD1 | c.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 |
5 | g.177260051G>C | CA362302879 | NSD1 | c.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) | |
5 | g.177260051G>T | CA362302885 | NSD1 | c.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) | |
5 | g.177260052C>A | CA362302890 | NSD1 | c.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) | |
5 | g.177260052C>G | CA362302892 | NSD1 | c.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) | |
5 | g.177260052C>T | CA362302894 | NSD1 | c.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 |
5 | g.177260053T>A | CA447726316 | NSD1 | c.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=) | |
5 | g.177260053T>C | CA3577757 | NSD1 | c.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 |
5 | g.177260053T>G | CA447726317 | NSD1 | c.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=) | |
5 | g.177260053T= | CA1603527098 | NSD1 | c.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=) | |
5 | g.177260054G>A | CA362302895 | NSD1 | c.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) | |
5 | g.177260054G>C | CA362302898 | NSD1 | c.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) | |
5 | g.177260054G>T | CA362302901 | NSD1 | c.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) | |
5 | g.177260055G>A | CA362302904 | NSD1 | c.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) | |
5 | g.177260055G>C | CA362302911 | NSD1 | c.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 |
5 | g.177260055G>T | CA362302913 | NSD1 | c.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) | |
5 | g.177260056G>A | CA447726318 | NSD1 | c.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 |
5 | g.177260056G>C | CA447726319 | NSD1 | c.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=) | |
5 | g.177260056G>T | CA447726320 | NSD1 | c.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=) | |
5 | g.177260057T>A | CA362302925 | NSD1 | c.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) | |
5 | g.177260057T>C | CA362302918 | NSD1 | c.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) | |
5 | g.177260057T>G | CA362302922 | NSD1 | c.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) | |
5 | g.177260058C>A | CA362302928 | NSD1 | c.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 |
5 | g.177260058C= | CA1603527100 | NSD1 | c.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=) | |
5 | g.177260058C>G | CA16618178 | NSD1 | c.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 |
5 | g.177260058C>T | CA362302932 | NSD1 | c.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) | |
5 | g.177260059A>C | CA447726321 | NSD1 | c.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=) | |
5 | g.177260059A>G | CA447726322 | NSD1 | c.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=) | |
5 | g.177260059A>T | CA447726323 | NSD1 | c.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=) | |
5 | g.177260060_177260061insGCAAA | CA2711095124 | NSD1 | c.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 |
5 | g.177260060A= | CA1603527104 | NSD1 | c.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=) | |
5 | g.177260060A>C | CA362302935 | NSD1 | c.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) | |
5 | g.177260060A>G | CA3577758 | NSD1 | c.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 |
5 | g.177260060A>T | CA362302939 | NSD1 | c.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) | |
5 | g.177260061A>C | CA362302941 | NSD1 | c.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) | |
5 | g.177260061A>G | CA362302943 | NSD1 | c.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) | |
5 | g.177260061A>T | CA362302944 | NSD1 | c.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) | |
5 | g.177260062G>A | CA447726325 | NSD1 | c.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 |
5 | g.177260062G>C | CA362302951 | NSD1 | c.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) | |
5 | g.177260062G= | CA1603527108 | NSD1 | c.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=) | |
5 | g.177260062G>T | CA362302954 | NSD1 | c.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) | |
5 | g.177260063A>C | CA362302956 | NSD1 | c.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) | |
5 | g.177260063A>G | CA362302963 | NSD1 | c.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 |
5 | g.177260063A>T | CA362302959 | NSD1 | c.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) | |
5 | g.177260063_177260064insAAAACAAAAATATTAAATA | CA2711095160 | NSD1 | c.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 |
5 | g.177260064T>A | CA362302967 | NSD1 | c.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) | |
5 | g.177260064T>C | CA362302970 | NSD1 | c.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) | |
5 | g.177260064T>G | CA362302973 | NSD1 | c.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) | |
5 | g.177260065C>A | CA447726327 | NSD1 | c.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 |
5 | g.177260065C>G | CA362302974 | NSD1 | c.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) | |
5 | g.177260065C>T | CA447726328 | NSD1 | c.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=) | |
5 | g.177260066C>A | CA362302975 | NSD1 | c.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 |
5 | g.177260066C>G | CA362302976 | NSD1 | c.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) | |
5 | g.177260066C>T | CA362302978 | NSD1 | c.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) | |
5 | g.177260067T>A | CA362302981 | NSD1 | c.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) | |
5 | g.177260067T>C | CA362302982 | NSD1 | c.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) | |
5 | g.177260067T>G | CA362302984 | NSD1 | c.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) | |
5 | g.177260068T>A | CA447726330 | NSD1 | c.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=) | |
5 | g.177260068T>C | CA447726331 | NSD1 | c.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=) | |
5 | g.177260068T>G | CA447726332 | NSD1 | c.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 |