Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.177291931A>G | CA2769562731 | NSD1 | c.5386-23A>G (n.5386-23A>G) c.901-23A>G (n.901-23A>G) n.5842-23A>G n.652A>G c.5950-23A>G (n.5950-23A>G) n.5656-23A>G c.6259-23A>G (n.6259-23A>G) c.5452-23A>G (n.5452-23A>G) n.401-23A>G c.1753-23A>G (n.1753-23A>G) c.5839-23A>G (n.5839-23A>G) c.5203-23A>G (n.5203-23A>G) c.1993-23A>G (n.1993-23A>G) | |
5 | g.177291933T>C | CA3577969 | NSD1 | c.5386-21T>C (n.5386-21T>C) c.901-21T>C (n.901-21T>C) n.5842-21T>C n.654T>C c.5950-21T>C (n.5950-21T>C) n.5656-21T>C c.6259-21T>C (n.6259-21T>C) c.5452-21T>C (n.5452-21T>C) n.401-21T>C c.1753-21T>C (n.1753-21T>C) c.5839-21T>C (n.5839-21T>C) c.5203-21T>C (n.5203-21T>C) c.1993-21T>C (n.1993-21T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.177291933T= | CA1603532556 | NSD1 | c.5386-21T= (n.5386-21T=) c.901-21T= (n.901-21T=) n.5842-21T= n.654T= c.5950-21T= (n.5950-21T=) n.5656-21T= c.6259-21T= (n.6259-21T=) c.5452-21T= (n.5452-21T=) n.401-21T= c.1753-21T= (n.1753-21T=) c.5839-21T= (n.5839-21T=) c.5203-21T= (n.5203-21T=) c.1993-21T= (n.1993-21T=) | |
5 | g.177291934G>A | CA3577970 | NSD1 | c.5386-20G>A (n.5386-20G>A) c.901-20G>A (n.901-20G>A) n.5842-20G>A n.655G>A c.5950-20G>A (n.5950-20G>A) n.5656-20G>A c.6259-20G>A (n.6259-20G>A) c.5452-20G>A (n.5452-20G>A) n.401-20G>A c.1753-20G>A (n.1753-20G>A) c.5839-20G>A (n.5839-20G>A) c.5203-20G>A (n.5203-20G>A) c.1993-20G>A (n.1993-20G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.177291934G= | CA1603532561 | NSD1 | c.5386-20G= (n.5386-20G=) c.901-20G= (n.901-20G=) n.5842-20G= n.655G= c.5950-20G= (n.5950-20G=) n.5656-20G= c.6259-20G= (n.6259-20G=) c.5452-20G= (n.5452-20G=) n.401-20G= c.1753-20G= (n.1753-20G=) c.5839-20G= (n.5839-20G=) c.5203-20G= (n.5203-20G=) c.1993-20G= (n.1993-20G=) | |
5 | g.177291934G>T | CA2578495122 | NSD1 | c.5386-20G>T (n.5386-20G>T) c.901-20G>T (n.901-20G>T) n.5842-20G>T n.655G>T c.5950-20G>T (n.5950-20G>T) n.5656-20G>T c.6259-20G>T (n.6259-20G>T) c.5452-20G>T (n.5452-20G>T) n.401-20G>T c.1753-20G>T (n.1753-20G>T) c.5839-20G>T (n.5839-20G>T) c.5203-20G>T (n.5203-20G>T) c.1993-20G>T (n.1993-20G>T) | |
5 | g.177291937C>A | CA2676691924 | NSD1 | c.5386-17C>A (n.5386-17C>A) c.901-17C>A (n.901-17C>A) n.5842-17C>A n.658C>A c.5950-17C>A (n.5950-17C>A) n.5656-17C>A c.6259-17C>A (n.6259-17C>A) c.5452-17C>A (n.5452-17C>A) n.401-17C>A c.1753-17C>A (n.1753-17C>A) c.5839-17C>A (n.5839-17C>A) c.5203-17C>A (n.5203-17C>A) c.1993-17C>A (n.1993-17C>A) | dbSNP gnomAD v4 |
5 | g.177291939A= | CA1603532563 | NSD1 | c.5386-15A= (n.5386-15A=) c.901-15A= (n.901-15A=) n.5842-15A= n.660A= c.5950-15A= (n.5950-15A=) n.5656-15A= c.6259-15A= (n.6259-15A=) c.5452-15A= (n.5452-15A=) n.401-15A= c.1753-15A= (n.1753-15A=) c.5839-15A= (n.5839-15A=) c.5203-15A= (n.5203-15A=) c.1993-15A= (n.1993-15A=) | |
5 | g.177291939A>G | CA808059652 | NSD1 | c.5386-15A>G (n.5386-15A>G) c.901-15A>G (n.901-15A>G) n.5842-15A>G n.660A>G c.5950-15A>G (n.5950-15A>G) n.5656-15A>G c.6259-15A>G (n.6259-15A>G) c.5452-15A>G (n.5452-15A>G) n.401-15A>G c.1753-15A>G (n.1753-15A>G) c.5839-15A>G (n.5839-15A>G) c.5203-15A>G (n.5203-15A>G) c.1993-15A>G (n.1993-15A>G) | dbSNP gnomAD v4 |
5 | g.177291941A>G | CA2676691925 | NSD1 | c.5386-13A>G (n.5386-13A>G) c.901-13A>G (n.901-13A>G) n.5842-13A>G n.662A>G c.5950-13A>G (n.5950-13A>G) n.5656-13A>G c.6259-13A>G (n.6259-13A>G) c.5452-13A>G (n.5452-13A>G) n.401-13A>G c.1753-13A>G (n.1753-13A>G) c.5839-13A>G (n.5839-13A>G) c.5203-13A>G (n.5203-13A>G) c.1993-13A>G (n.1993-13A>G) | gnomAD v4 |
5 | g.177291943C>G | CA2676691926 | NSD1 | c.5386-11C>G (n.5386-11C>G) c.901-11C>G (n.901-11C>G) n.5842-11C>G n.664C>G c.5950-11C>G (n.5950-11C>G) n.5656-11C>G c.6259-11C>G (n.6259-11C>G) c.5452-11C>G (n.5452-11C>G) n.401-11C>G c.1753-11C>G (n.1753-11C>G) c.5839-11C>G (n.5839-11C>G) c.5203-11C>G (n.5203-11C>G) c.1993-11C>G (n.1993-11C>G) | gnomAD v4 |
5 | g.177291943C>T | CA2845722565 | NSD1 | c.5386-11C>T (n.5386-11C>T) c.901-11C>T (n.901-11C>T) n.5842-11C>T n.664C>T c.5950-11C>T (n.5950-11C>T) n.5656-11C>T c.6259-11C>T (n.6259-11C>T) c.5452-11C>T (n.5452-11C>T) n.401-11C>T c.1753-11C>T (n.1753-11C>T) c.5839-11C>T (n.5839-11C>T) c.5203-11C>T (n.5203-11C>T) c.1993-11C>T (n.1993-11C>T) | |
5 | g.177291945G>A | CA2676691927 | NSD1 | c.5386-9G>A (n.5386-9G>A) c.901-9G>A (n.901-9G>A) n.5842-9G>A n.666G>A c.5950-9G>A (n.5950-9G>A) n.5656-9G>A c.6259-9G>A (n.6259-9G>A) c.5452-9G>A (n.5452-9G>A) n.401-9G>A c.1753-9G>A (n.1753-9G>A) c.5839-9G>A (n.5839-9G>A) c.5203-9G>A (n.5203-9G>A) c.1993-9G>A (n.1993-9G>A) | gnomAD v4 |
5 | g.177291945G>C | CA2711004060 | NSD1 | c.5386-9G>C (n.5386-9G>C) c.901-9G>C (n.901-9G>C) n.5842-9G>C n.666G>C c.5950-9G>C (n.5950-9G>C) n.5656-9G>C c.6259-9G>C (n.6259-9G>C) c.5452-9G>C (n.5452-9G>C) n.401-9G>C c.1753-9G>C (n.1753-9G>C) c.5839-9G>C (n.5839-9G>C) c.5203-9G>C (n.5203-9G>C) c.1993-9G>C (n.1993-9G>C) | dbSNP |
5 | g.177291945G>T | CA2676691928 | NSD1 | c.5386-9G>T (n.5386-9G>T) c.901-9G>T (n.901-9G>T) n.5842-9G>T n.666G>T c.5950-9G>T (n.5950-9G>T) n.5656-9G>T c.6259-9G>T (n.6259-9G>T) c.5452-9G>T (n.5452-9G>T) n.401-9G>T c.1753-9G>T (n.1753-9G>T) c.5839-9G>T (n.5839-9G>T) c.5203-9G>T (n.5203-9G>T) c.1993-9G>T (n.1993-9G>T) | gnomAD v4 |
5 | g.177291946A= | CA1603532565 | NSD1 | c.5386-8A= (n.5386-8A=) c.901-8A= (n.901-8A=) n.5842-8A= n.667A= c.5950-8A= (n.5950-8A=) n.5656-8A= c.6259-8A= (n.6259-8A=) c.5452-8A= (n.5452-8A=) n.401-8A= c.1753-8A= (n.1753-8A=) c.5839-8A= (n.5839-8A=) c.5203-8A= (n.5203-8A=) c.1993-8A= (n.1993-8A=) | |
5 | g.177291946A>T | CA295050 | NSD1 | c.5386-8A>T (n.5386-8A>T) c.901-8A>T (n.901-8A>T) n.5842-8A>T n.667A>T c.5950-8A>T (n.5950-8A>T) n.5656-8A>T c.6259-8A>T (n.6259-8A>T) c.5452-8A>T (n.5452-8A>T) n.401-8A>T c.1753-8A>T (n.1753-8A>T) c.5839-8A>T (n.5839-8A>T) c.5203-8A>T (n.5203-8A>T) c.1993-8A>T (n.1993-8A>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.177291947C>T | CA2676691929 | NSD1 | c.5386-7C>T (n.5386-7C>T) c.901-7C>T (n.901-7C>T) n.5842-7C>T n.668C>T c.5950-7C>T (n.5950-7C>T) n.5656-7C>T c.6259-7C>T (n.6259-7C>T) c.5452-7C>T (n.5452-7C>T) n.401-7C>T c.1753-7C>T (n.1753-7C>T) c.5839-7C>T (n.5839-7C>T) c.5203-7C>T (n.5203-7C>T) c.1993-7C>T (n.1993-7C>T) | gnomAD v4 |
5 | g.177291948C>A | CA3577971 | NSD1 | c.5386-6C>A (n.5386-6C>A) c.901-6C>A (n.901-6C>A) n.5842-6C>A n.669C>A c.5950-6C>A (n.5950-6C>A) n.5656-6C>A c.6259-6C>A (n.6259-6C>A) c.5452-6C>A (n.5452-6C>A) n.401-6C>A c.1753-6C>A (n.1753-6C>A) c.5839-6C>A (n.5839-6C>A) c.5203-6C>A (n.5203-6C>A) c.1993-6C>A (n.1993-6C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.177291948C= | CA1603532572 | NSD1 | c.5386-6C= (n.5386-6C=) c.901-6C= (n.901-6C=) n.5842-6C= n.669C= c.5950-6C= (n.5950-6C=) n.5656-6C= c.6259-6C= (n.6259-6C=) c.5452-6C= (n.5452-6C=) n.401-6C= c.1753-6C= (n.1753-6C=) c.5839-6C= (n.5839-6C=) c.5203-6C= (n.5203-6C=) c.1993-6C= (n.1993-6C=) | |
5 | g.177291948C>T | CA2676691930 | NSD1 | c.5386-6C>T (n.5386-6C>T) c.901-6C>T (n.901-6C>T) n.5842-6C>T n.669C>T c.5950-6C>T (n.5950-6C>T) n.5656-6C>T c.6259-6C>T (n.6259-6C>T) c.5452-6C>T (n.5452-6C>T) n.401-6C>T c.1753-6C>T (n.1753-6C>T) c.5839-6C>T (n.5839-6C>T) c.5203-6C>T (n.5203-6C>T) c.1993-6C>T (n.1993-6C>T) | gnomAD v4 |
5 | g.177291949T>C | CA2676691931 | NSD1 | c.5386-5T>C (n.5386-5T>C) c.901-5T>C (n.901-5T>C) n.5842-5T>C n.670T>C c.5950-5T>C (n.5950-5T>C) n.5656-5T>C c.6259-5T>C (n.6259-5T>C) c.5452-5T>C (n.5452-5T>C) n.401-5T>C c.1753-5T>C (n.1753-5T>C) c.5839-5T>C (n.5839-5T>C) c.5203-5T>C (n.5203-5T>C) c.1993-5T>C (n.1993-5T>C) | gnomAD v4 |
5 | g.177291950G>A | CA564899184 | NSD1 | c.5386-4G>A (n.5386-4G>A) c.901-4G>A (n.901-4G>A) n.5842-4G>A n.671G>A c.5950-4G>A (n.5950-4G>A) n.5656-4G>A c.6259-4G>A (n.6259-4G>A) c.5452-4G>A (n.5452-4G>A) n.401-4G>A c.1753-4G>A (n.1753-4G>A) c.5839-4G>A (n.5839-4G>A) c.5203-4G>A (n.5203-4G>A) c.1993-4G>A (n.1993-4G>A) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.177291950G= | CA1603532579 | NSD1 | c.5386-4G= (n.5386-4G=) c.901-4G= (n.901-4G=) n.5842-4G= n.671G= c.5950-4G= (n.5950-4G=) n.5656-4G= c.6259-4G= (n.6259-4G=) c.5452-4G= (n.5452-4G=) n.401-4G= c.1753-4G= (n.1753-4G=) c.5839-4G= (n.5839-4G=) c.5203-4G= (n.5203-4G=) c.1993-4G= (n.1993-4G=) | |
5 | g.177291950G>T | CA3577972 | NSD1 | c.5386-4G>T (n.5386-4G>T) c.901-4G>T (n.901-4G>T) n.5842-4G>T n.671G>T c.5950-4G>T (n.5950-4G>T) n.5656-4G>T c.6259-4G>T (n.6259-4G>T) c.5452-4G>T (n.5452-4G>T) n.401-4G>T c.1753-4G>T (n.1753-4G>T) c.5839-4G>T (n.5839-4G>T) c.5203-4G>T (n.5203-4G>T) c.1993-4G>T (n.1993-4G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.177291951T>C | CA2578495123 | NSD1 | c.5386-3T>C (n.5386-3T>C) c.901-3T>C (n.901-3T>C) n.5842-3T>C n.672T>C c.5950-3T>C (n.5950-3T>C) n.5656-3T>C c.6259-3T>C (n.6259-3T>C) c.5452-3T>C (n.5452-3T>C) n.401-3T>C c.1753-3T>C (n.1753-3T>C) c.5839-3T>C (n.5839-3T>C) c.5203-3T>C (n.5203-3T>C) c.1993-3T>C (n.1993-3T>C) | |
5 | g.177291951T>G | CA2711004061 | NSD1 | c.5386-3T>G (n.5386-3T>G) c.901-3T>G (n.901-3T>G) n.5842-3T>G n.672T>G c.5950-3T>G (n.5950-3T>G) n.5656-3T>G c.6259-3T>G (n.6259-3T>G) c.5452-3T>G (n.5452-3T>G) n.401-3T>G c.1753-3T>G (n.1753-3T>G) c.5839-3T>G (n.5839-3T>G) c.5203-3T>G (n.5203-3T>G) c.1993-3T>G (n.1993-3T>G) | dbSNP |
5 | g.177291952A>C | CA362319935 | NSD1 | c.5386-2A>C (n.5386-2A>C) c.901-2A>C (n.901-2A>C) n.5842-2A>C n.673A>C c.5950-2A>C (n.5950-2A>C) n.5656-2A>C c.6259-2A>C (n.6259-2A>C) c.5452-2A>C (n.5452-2A>C) n.401-2A>C c.1753-2A>C (n.1753-2A>C) c.5839-2A>C (n.5839-2A>C) c.5203-2A>C (n.5203-2A>C) c.1993-2A>C (n.1993-2A>C) | |
5 | g.177291952A>G | CA362319937 | NSD1 | c.5386-2A>G (n.5386-2A>G) c.901-2A>G (n.901-2A>G) n.5842-2A>G n.673A>G c.5950-2A>G (n.5950-2A>G) n.5656-2A>G c.6259-2A>G (n.6259-2A>G) c.5452-2A>G (n.5452-2A>G) n.401-2A>G c.1753-2A>G (n.1753-2A>G) c.5839-2A>G (n.5839-2A>G) c.5203-2A>G (n.5203-2A>G) c.1993-2A>G (n.1993-2A>G) | |
5 | g.177291952A>T | CA362319940 | NSD1 | c.5386-2A>T (n.5386-2A>T) c.901-2A>T (n.901-2A>T) n.5842-2A>T n.673A>T c.5950-2A>T (n.5950-2A>T) n.5656-2A>T c.6259-2A>T (n.6259-2A>T) c.5452-2A>T (n.5452-2A>T) n.401-2A>T c.1753-2A>T (n.1753-2A>T) c.5839-2A>T (n.5839-2A>T) c.5203-2A>T (n.5203-2A>T) c.1993-2A>T (n.1993-2A>T) | |
5 | g.177291953G>A | CA362319948 | NSD1 | c.5386-1G>A (n.5386-1G>A) c.901-1G>A (n.901-1G>A) n.5842-1G>A n.674G>A c.5950-1G>A (n.5950-1G>A) n.5656-1G>A c.6259-1G>A (n.6259-1G>A) c.5452-1G>A (n.5452-1G>A) n.401-1G>A c.1753-1G>A (n.1753-1G>A) c.5839-1G>A (n.5839-1G>A) c.5203-1G>A (n.5203-1G>A) c.1993-1G>A (n.1993-1G>A) | dbSNP |
5 | g.177291953G>C | CA362319943 | NSD1 | c.5386-1G>C (n.5386-1G>C) c.901-1G>C (n.901-1G>C) n.5842-1G>C n.674G>C c.5950-1G>C (n.5950-1G>C) n.5656-1G>C c.6259-1G>C (n.6259-1G>C) c.5452-1G>C (n.5452-1G>C) n.401-1G>C c.1753-1G>C (n.1753-1G>C) c.5839-1G>C (n.5839-1G>C) c.5203-1G>C (n.5203-1G>C) c.1993-1G>C (n.1993-1G>C) | COSMIC COSMIC |
5 | g.177291953G>T | CA362319945 | NSD1 | c.5386-1G>T (n.5386-1G>T) c.901-1G>T (n.901-1G>T) n.5842-1G>T n.674G>T c.5950-1G>T (n.5950-1G>T) n.5656-1G>T c.6259-1G>T (n.6259-1G>T) c.5452-1G>T (n.5452-1G>T) n.401-1G>T c.1753-1G>T (n.1753-1G>T) c.5839-1G>T (n.5839-1G>T) c.5203-1G>T (n.5203-1G>T) c.1993-1G>T (n.1993-1G>T) | |
5 | g.177291954A= | CA1603532586 | NSD1 | c.5386A= (p.Asn1796=) c.901A= (p.Asn301=) n.5842A= n.675A= c.5950A= (p.Asn1984=) n.5656A= c.6259A= (p.Asn2087=) c.5452A= (p.Asn1818=) n.401A= c.1753A= (p.Asn585=) c.5839A= (p.Asn1947=) c.5203A= (p.Asn1735=) c.1993A= (p.Asn665=) | |
5 | g.177291954A>C | CA362319950 | NSD1 | c.5386A>C (p.Asn1796His) c.901A>C (p.Asn301His) n.5842A>C n.675A>C c.5950A>C (p.Asn1984His) n.5656A>C c.6259A>C (p.Asn2087His) c.5452A>C (p.Asn1818His) n.401A>C c.1753A>C (p.Asn585His) c.5839A>C (p.Asn1947His) c.5203A>C (p.Asn1735His) c.1993A>C (p.Asn665His) | |
5 | g.177291954A>G | CA132861224 | NSD1 | c.5386A>G (p.Asn1796Asp) c.901A>G (p.Asn301Asp) n.5842A>G n.675A>G c.5950A>G (p.Asn1984Asp) n.5656A>G c.6259A>G (p.Asn2087Asp) c.5452A>G (p.Asn1818Asp) n.401A>G c.1753A>G (p.Asn585Asp) c.5839A>G (p.Asn1947Asp) c.5203A>G (p.Asn1735Asp) c.1993A>G (p.Asn665Asp) | dbSNP |
5 | g.177291954A>T | CA362319953 | NSD1 | c.5386A>T (p.Asn1796Tyr) c.901A>T (p.Asn301Tyr) n.5842A>T n.675A>T c.5950A>T (p.Asn1984Tyr) n.5656A>T c.6259A>T (p.Asn2087Tyr) c.5452A>T (p.Asn1818Tyr) n.401A>T c.1753A>T (p.Asn585Tyr) c.5839A>T (p.Asn1947Tyr) c.5203A>T (p.Asn1735Tyr) c.1993A>T (p.Asn665Tyr) | |
5 | g.177291955A= | CA1603532590 | NSD1 | c.5387A= (p.Asn1796=) c.902A= (p.Asn301=) n.5843A= n.676A= c.5951A= (p.Asn1984=) n.5657A= c.6260A= (p.Asn2087=) c.5453A= (p.Asn1818=) n.402A= c.1754A= (p.Asn585=) c.5840A= (p.Asn1947=) c.5204A= (p.Asn1735=) c.1994A= (p.Asn665=) | |
5 | g.177291955A>C | CA362319956 | NSD1 | c.5387A>C (p.Asn1796Thr) c.902A>C (p.Asn301Thr) n.5843A>C n.676A>C c.5951A>C (p.Asn1984Thr) n.5657A>C c.6260A>C (p.Asn2087Thr) c.5453A>C (p.Asn1818Thr) n.402A>C c.1754A>C (p.Asn585Thr) c.5840A>C (p.Asn1947Thr) c.5204A>C (p.Asn1735Thr) c.1994A>C (p.Asn665Thr) | |
5 | g.177291955A>G | CA362319957 | NSD1 | c.5387A>G (p.Asn1796Ser) c.902A>G (p.Asn301Ser) n.5843A>G n.676A>G c.5951A>G (p.Asn1984Ser) n.5657A>G c.6260A>G (p.Asn2087Ser) c.5453A>G (p.Asn1818Ser) n.402A>G c.1754A>G (p.Asn585Ser) c.5840A>G (p.Asn1947Ser) c.5204A>G (p.Asn1735Ser) c.1994A>G (p.Asn665Ser) | dbSNP |
5 | g.177291955A>T | CA362319958 | NSD1 | c.5387A>T (p.Asn1796Ile) c.902A>T (p.Asn301Ile) n.5843A>T n.676A>T c.5951A>T (p.Asn1984Ile) n.5657A>T c.6260A>T (p.Asn2087Ile) c.5453A>T (p.Asn1818Ile) n.402A>T c.1754A>T (p.Asn585Ile) c.5840A>T (p.Asn1947Ile) c.5204A>T (p.Asn1735Ile) c.1994A>T (p.Asn665Ile) | |
5 | g.177291956T>A | CA362319962 | NSD1 | c.5388T>A (p.Asn1796Lys) c.903T>A (p.Asn301Lys) n.5844T>A n.677T>A c.5952T>A (p.Asn1984Lys) n.5658T>A c.6261T>A (p.Asn2087Lys) c.5454T>A (p.Asn1818Lys) n.403T>A c.1755T>A (p.Asn585Lys) c.5841T>A (p.Asn1947Lys) c.5205T>A (p.Asn1735Lys) c.1995T>A (p.Asn665Lys) | |
5 | g.177291956T>C | CA447740627 | NSD1 | c.5388T>C (p.Asn1796=) c.903T>C (p.Asn301=) n.5844T>C n.677T>C c.5952T>C (p.Asn1984=) n.5658T>C c.6261T>C (p.Asn2087=) c.5454T>C (p.Asn1818=) n.403T>C c.1755T>C (p.Asn585=) c.5841T>C (p.Asn1947=) c.5205T>C (p.Asn1735=) c.1995T>C (p.Asn665=) | dbSNP |
5 | g.177291956T>G | CA362319965 | NSD1 | c.5388T>G (p.Asn1796Lys) c.903T>G (p.Asn301Lys) n.5844T>G n.677T>G c.5952T>G (p.Asn1984Lys) n.5658T>G c.6261T>G (p.Asn2087Lys) c.5454T>G (p.Asn1818Lys) n.403T>G c.1755T>G (p.Asn585Lys) c.5841T>G (p.Asn1947Lys) c.5205T>G (p.Asn1735Lys) c.1995T>G (p.Asn665Lys) | |
5 | g.177291957C>A | CA362319968 | NSD1 | c.5389C>A (p.Gln1797Lys) c.904C>A (p.Gln302Lys) n.5845C>A n.678C>A c.5953C>A (p.Gln1985Lys) n.5659C>A c.6262C>A (p.Gln2088Lys) c.5455C>A (p.Gln1819Lys) n.404C>A c.1756C>A (p.Gln586Lys) c.5842C>A (p.Gln1948Lys) c.5206C>A (p.Gln1736Lys) c.1996C>A (p.Gln666Lys) | |
5 | g.177291957C>G | CA362319971 | NSD1 | c.5389C>G (p.Gln1797Glu) c.904C>G (p.Gln302Glu) n.5845C>G n.678C>G c.5953C>G (p.Gln1985Glu) n.5659C>G c.6262C>G (p.Gln2088Glu) c.5455C>G (p.Gln1819Glu) n.404C>G c.1756C>G (p.Gln586Glu) c.5842C>G (p.Gln1948Glu) c.5206C>G (p.Gln1736Glu) c.1996C>G (p.Gln666Glu) | |
5 | g.177291957C>T | CA362319973 | NSD1 | c.5389C>T (p.Gln1797Ter) c.904C>T (p.Gln302Ter) n.5845C>T n.678C>T c.5953C>T (p.Gln1985Ter) n.5659C>T c.6262C>T (p.Gln2088Ter) c.5455C>T (p.Gln1819Ter) n.404C>T c.1756C>T (p.Gln586Ter) c.5842C>T (p.Gln1948Ter) c.5206C>T (p.Gln1736Ter) c.1996C>T (p.Gln666Ter) | COSMIC COSMIC |
5 | g.177291958A>C | CA362319982 | NSD1 | c.5390A>C (p.Gln1797Pro) c.905A>C (p.Gln302Pro) n.5846A>C n.679A>C c.5954A>C (p.Gln1985Pro) n.5660A>C c.6263A>C (p.Gln2088Pro) c.5456A>C (p.Gln1819Pro) n.405A>C c.1757A>C (p.Gln586Pro) c.5843A>C (p.Gln1948Pro) c.5207A>C (p.Gln1736Pro) c.1997A>C (p.Gln666Pro) | |
5 | g.177291958A>G | CA362319980 | NSD1 | c.5390A>G (p.Gln1797Arg) c.905A>G (p.Gln302Arg) n.5846A>G n.679A>G c.5954A>G (p.Gln1985Arg) n.5660A>G c.6263A>G (p.Gln2088Arg) c.5456A>G (p.Gln1819Arg) n.405A>G c.1757A>G (p.Gln586Arg) c.5843A>G (p.Gln1948Arg) c.5207A>G (p.Gln1736Arg) c.1997A>G (p.Gln666Arg) | |
5 | g.177291958A>T | CA362319977 | NSD1 | c.5390A>T (p.Gln1797Leu) c.905A>T (p.Gln302Leu) n.5846A>T n.679A>T c.5954A>T (p.Gln1985Leu) n.5660A>T c.6263A>T (p.Gln2088Leu) c.5456A>T (p.Gln1819Leu) n.405A>T c.1757A>T (p.Gln586Leu) c.5843A>T (p.Gln1948Leu) c.5207A>T (p.Gln1736Leu) c.1997A>T (p.Gln666Leu) | |
5 | g.177291959A>C | CA362319984 | NSD1 | c.5391A>C (p.Gln1797His) c.906A>C (p.Gln302His) n.5847A>C n.680A>C c.5955A>C (p.Gln1985His) n.5661A>C c.6264A>C (p.Gln2088His) c.5457A>C (p.Gln1819His) n.406A>C c.1758A>C (p.Gln586His) c.5844A>C (p.Gln1948His) c.5208A>C (p.Gln1736His) c.1998A>C (p.Gln666His) | |
5 | g.177291959A>G | CA447740638 | NSD1 | c.5391A>G (p.Gln1797=) c.906A>G (p.Gln302=) n.5847A>G n.680A>G c.5955A>G (p.Gln1985=) n.5661A>G c.6264A>G (p.Gln2088=) c.5457A>G (p.Gln1819=) n.406A>G c.1758A>G (p.Gln586=) c.5844A>G (p.Gln1948=) c.5208A>G (p.Gln1736=) c.1998A>G (p.Gln666=) | gnomAD v4 |
5 | g.177291959A>T | CA362319986 | NSD1 | c.5391A>T (p.Gln1797His) c.906A>T (p.Gln302His) n.5847A>T n.680A>T c.5955A>T (p.Gln1985His) n.5661A>T c.6264A>T (p.Gln2088His) c.5457A>T (p.Gln1819His) n.406A>T c.1758A>T (p.Gln586His) c.5844A>T (p.Gln1948His) c.5208A>T (p.Gln1736His) c.1998A>T (p.Gln666His) | |
5 | g.177291960C>A | CA362319990 | NSD1 | c.5392C>A (p.Pro1798Thr) c.907C>A (p.Pro303Thr) n.5848C>A n.681C>A c.5956C>A (p.Pro1986Thr) n.5662C>A c.6265C>A (p.Pro2089Thr) c.5458C>A (p.Pro1820Thr) n.407C>A c.1759C>A (p.Pro587Thr) c.5845C>A (p.Pro1949Thr) c.5209C>A (p.Pro1737Thr) c.1999C>A (p.Pro667Thr) | |
5 | g.177291960C= | CA1603532593 | NSD1 | c.5392C= (p.Pro1798=) c.907C= (p.Pro303=) n.5848C= n.681C= c.5956C= (p.Pro1986=) n.5662C= c.6265C= (p.Pro2089=) c.5458C= (p.Pro1820=) n.407C= c.1759C= (p.Pro587=) c.5845C= (p.Pro1949=) c.5209C= (p.Pro1737=) c.1999C= (p.Pro667=) | |
5 | g.177291960C>G | CA362319993 | NSD1 | c.5392C>G (p.Pro1798Ala) c.907C>G (p.Pro303Ala) n.5848C>G n.681C>G c.5956C>G (p.Pro1986Ala) n.5662C>G c.6265C>G (p.Pro2089Ala) c.5458C>G (p.Pro1820Ala) n.407C>G c.1759C>G (p.Pro587Ala) c.5845C>G (p.Pro1949Ala) c.5209C>G (p.Pro1737Ala) c.1999C>G (p.Pro667Ala) | |
5 | g.177291960C>T | CA3577973 | NSD1 | c.5392C>T (p.Pro1798Ser) c.907C>T (p.Pro303Ser) n.5848C>T n.681C>T c.5956C>T (p.Pro1986Ser) n.5662C>T c.6265C>T (p.Pro2089Ser) c.5458C>T (p.Pro1820Ser) n.407C>T c.1759C>T (p.Pro587Ser) c.5845C>T (p.Pro1949Ser) c.5209C>T (p.Pro1737Ser) c.1999C>T (p.Pro667Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.177291961C>A | CA362319998 | NSD1 | c.5393C>A (p.Pro1798His) c.908C>A (p.Pro303His) n.5849C>A n.682C>A c.5957C>A (p.Pro1986His) n.5663C>A c.6266C>A (p.Pro2089His) c.5459C>A (p.Pro1820His) n.408C>A c.1760C>A (p.Pro587His) c.5846C>A (p.Pro1949His) c.5210C>A (p.Pro1737His) c.2000C>A (p.Pro667His) | |
5 | g.177291961C= | CA1603532599 | NSD1 | c.5393C= (p.Pro1798=) c.908C= (p.Pro303=) n.5849C= n.682C= c.5957C= (p.Pro1986=) n.5663C= c.6266C= (p.Pro2089=) c.5459C= (p.Pro1820=) n.408C= c.1760C= (p.Pro587=) c.5846C= (p.Pro1949=) c.5210C= (p.Pro1737=) c.2000C= (p.Pro667=) | |
5 | g.177291961C>G | CA362320000 | NSD1 | c.5393C>G (p.Pro1798Arg) c.908C>G (p.Pro303Arg) n.5849C>G n.682C>G c.5957C>G (p.Pro1986Arg) n.5663C>G c.6266C>G (p.Pro2089Arg) c.5459C>G (p.Pro1820Arg) n.408C>G c.1760C>G (p.Pro587Arg) c.5846C>G (p.Pro1949Arg) c.5210C>G (p.Pro1737Arg) c.2000C>G (p.Pro667Arg) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.177291961C>T | CA362320003 | NSD1 | c.5393C>T (p.Pro1798Leu) c.908C>T (p.Pro303Leu) n.5849C>T n.682C>T c.5957C>T (p.Pro1986Leu) n.5663C>T c.6266C>T (p.Pro2089Leu) c.5459C>T (p.Pro1820Leu) n.408C>T c.1760C>T (p.Pro587Leu) c.5846C>T (p.Pro1949Leu) c.5210C>T (p.Pro1737Leu) c.2000C>T (p.Pro667Leu) | |
5 | g.177291962C>A | CA447740643 | NSD1 | c.5394C>A (p.Pro1798=) c.909C>A (p.Pro303=) n.5850C>A n.683C>A c.5958C>A (p.Pro1986=) n.5664C>A c.6267C>A (p.Pro2089=) c.5460C>A (p.Pro1820=) n.409C>A c.1761C>A (p.Pro587=) c.5847C>A (p.Pro1949=) c.5211C>A (p.Pro1737=) c.2001C>A (p.Pro667=) | |
5 | g.177291962C= | CA1603532602 | NSD1 | c.5394C= (p.Pro1798=) c.909C= (p.Pro303=) n.5850C= n.683C= c.5958C= (p.Pro1986=) n.5664C= c.6267C= (p.Pro2089=) c.5460C= (p.Pro1820=) n.409C= c.1761C= (p.Pro587=) c.5847C= (p.Pro1949=) c.5211C= (p.Pro1737=) c.2001C= (p.Pro667=) | |
5 | g.177291962C>G | CA447740644 | NSD1 | c.5394C>G (p.Pro1798=) c.909C>G (p.Pro303=) n.5850C>G n.683C>G c.5958C>G (p.Pro1986=) n.5664C>G c.6267C>G (p.Pro2089=) c.5460C>G (p.Pro1820=) n.409C>G c.1761C>G (p.Pro587=) c.5847C>G (p.Pro1949=) c.5211C>G (p.Pro1737=) c.2001C>G (p.Pro667=) | |
5 | g.177291962C>T | CA447740646 | NSD1 | c.5394C>T (p.Pro1798=) c.909C>T (p.Pro303=) n.5850C>T n.683C>T c.5958C>T (p.Pro1986=) n.5664C>T c.6267C>T (p.Pro2089=) c.5460C>T (p.Pro1820=) n.409C>T c.1761C>T (p.Pro587=) c.5847C>T (p.Pro1949=) c.5211C>T (p.Pro1737=) c.2001C>T (p.Pro667=) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.177291963A= | CA1603532605 | NSD1 | c.5395A= (p.Ile1799=) c.910A= (p.Ile304=) n.5851A= n.684A= c.5959A= (p.Ile1987=) n.5665A= c.6268A= (p.Ile2090=) c.5461A= (p.Ile1821=) n.410A= c.1762A= (p.Ile588=) c.5848A= (p.Ile1950=) c.5212A= (p.Ile1738=) c.2002A= (p.Ile668=) | |
5 | g.177291963A>C | CA362320005 | NSD1 | c.5395A>C (p.Ile1799Leu) c.910A>C (p.Ile304Leu) n.5851A>C n.684A>C c.5959A>C (p.Ile1987Leu) n.5665A>C c.6268A>C (p.Ile2090Leu) c.5461A>C (p.Ile1821Leu) n.410A>C c.1762A>C (p.Ile588Leu) c.5848A>C (p.Ile1950Leu) c.5212A>C (p.Ile1738Leu) c.2002A>C (p.Ile668Leu) | |
5 | g.177291963A>G | CA362320008 | NSD1 | c.5395A>G (p.Ile1799Val) c.910A>G (p.Ile304Val) n.5851A>G n.684A>G c.5959A>G (p.Ile1987Val) n.5665A>G c.6268A>G (p.Ile2090Val) c.5461A>G (p.Ile1821Val) n.410A>G c.1762A>G (p.Ile588Val) c.5848A>G (p.Ile1950Val) c.5212A>G (p.Ile1738Val) c.2002A>G (p.Ile668Val) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.177291963A>T | CA362320009 | NSD1 | c.5395A>T (p.Ile1799Phe) c.910A>T (p.Ile304Phe) n.5851A>T n.684A>T c.5959A>T (p.Ile1987Phe) n.5665A>T c.6268A>T (p.Ile2090Phe) c.5461A>T (p.Ile1821Phe) n.410A>T c.1762A>T (p.Ile588Phe) c.5848A>T (p.Ile1950Phe) c.5212A>T (p.Ile1738Phe) c.2002A>T (p.Ile668Phe) | |
5 | g.177291964T>A | CA362320011 | NSD1 | c.5396T>A (p.Ile1799Asn) c.911T>A (p.Ile304Asn) n.5852T>A n.685T>A c.5960T>A (p.Ile1987Asn) n.5666T>A c.6269T>A (p.Ile2090Asn) c.5462T>A (p.Ile1821Asn) n.411T>A c.1763T>A (p.Ile588Asn) c.5849T>A (p.Ile1950Asn) c.5213T>A (p.Ile1738Asn) c.2003T>A (p.Ile668Asn) | |
5 | g.177291964T>C | CA362320014 | NSD1 | c.5396T>C (p.Ile1799Thr) c.911T>C (p.Ile304Thr) n.5852T>C n.685T>C c.5960T>C (p.Ile1987Thr) n.5666T>C c.6269T>C (p.Ile2090Thr) c.5462T>C (p.Ile1821Thr) n.411T>C c.1763T>C (p.Ile588Thr) c.5849T>C (p.Ile1950Thr) c.5213T>C (p.Ile1738Thr) c.2003T>C (p.Ile668Thr) | |
5 | g.177291964T>G | CA362320017 | NSD1 | c.5396T>G (p.Ile1799Ser) c.911T>G (p.Ile304Ser) n.5852T>G n.685T>G c.5960T>G (p.Ile1987Ser) n.5666T>G c.6269T>G (p.Ile2090Ser) c.5462T>G (p.Ile1821Ser) n.411T>G c.1763T>G (p.Ile588Ser) c.5849T>G (p.Ile1950Ser) c.5213T>G (p.Ile1738Ser) c.2003T>G (p.Ile668Ser) | |
5 | g.177291965T>A | CA447740648 | NSD1 | c.5397T>A (p.Ile1799=) c.912T>A (p.Ile304=) n.5853T>A n.686T>A c.5961T>A (p.Ile1987=) n.5667T>A c.6270T>A (p.Ile2090=) c.5463T>A (p.Ile1821=) n.412T>A c.1764T>A (p.Ile588=) c.5850T>A (p.Ile1950=) c.5214T>A (p.Ile1738=) c.2004T>A (p.Ile668=) | |
5 | g.177291965T>C | CA447740649 | NSD1 | c.5397T>C (p.Ile1799=) c.912T>C (p.Ile304=) n.5853T>C n.686T>C c.5961T>C (p.Ile1987=) n.5667T>C c.6270T>C (p.Ile2090=) c.5463T>C (p.Ile1821=) n.412T>C c.1764T>C (p.Ile588=) c.5850T>C (p.Ile1950=) c.5214T>C (p.Ile1738=) c.2004T>C (p.Ile668=) | |
5 | g.177291965T>G | CA362320019 | NSD1 | c.5397T>G (p.Ile1799Met) c.912T>G (p.Ile304Met) n.5853T>G n.686T>G c.5961T>G (p.Ile1987Met) n.5667T>G c.6270T>G (p.Ile2090Met) c.5463T>G (p.Ile1821Met) n.412T>G c.1764T>G (p.Ile588Met) c.5850T>G (p.Ile1950Met) c.5214T>G (p.Ile1738Met) c.2004T>G (p.Ile668Met) | |
5 | g.177291966G>A | CA362320021 | NSD1 | c.5398G>A (p.Ala1800Thr) c.913G>A (p.Ala305Thr) n.5854G>A n.687G>A c.5962G>A (p.Ala1988Thr) n.5668G>A c.6271G>A (p.Ala2091Thr) c.5464G>A (p.Ala1822Thr) n.413G>A c.1765G>A (p.Ala589Thr) c.5851G>A (p.Ala1951Thr) c.5215G>A (p.Ala1739Thr) c.2005G>A (p.Ala669Thr) | |
5 | g.177291966G>C | CA362320024 | NSD1 | c.5398G>C (p.Ala1800Pro) c.913G>C (p.Ala305Pro) n.5854G>C n.687G>C c.5962G>C (p.Ala1988Pro) n.5668G>C c.6271G>C (p.Ala2091Pro) c.5464G>C (p.Ala1822Pro) n.413G>C c.1765G>C (p.Ala589Pro) c.5851G>C (p.Ala1951Pro) c.5215G>C (p.Ala1739Pro) c.2005G>C (p.Ala669Pro) | dbSNP |
5 | g.177291966G>T | CA362320027 | NSD1 | c.5398G>T (p.Ala1800Ser) c.913G>T (p.Ala305Ser) n.5854G>T n.687G>T c.5962G>T (p.Ala1988Ser) n.5668G>T c.6271G>T (p.Ala2091Ser) c.5464G>T (p.Ala1822Ser) n.413G>T c.1765G>T (p.Ala589Ser) c.5851G>T (p.Ala1951Ser) c.5215G>T (p.Ala1739Ser) c.2005G>T (p.Ala669Ser) | |
5 | g.177291967C>A | CA362320031 | NSD1 | c.5399C>A (p.Ala1800Asp) c.914C>A (p.Ala305Asp) n.5855C>A n.688C>A c.5963C>A (p.Ala1988Asp) n.5669C>A c.6272C>A (p.Ala2091Asp) c.5465C>A (p.Ala1822Asp) n.414C>A c.1766C>A (p.Ala589Asp) c.5852C>A (p.Ala1951Asp) c.5216C>A (p.Ala1739Asp) c.2006C>A (p.Ala669Asp) | |
5 | g.177291967C>G | CA362320034 | NSD1 | c.5399C>G (p.Ala1800Gly) c.914C>G (p.Ala305Gly) n.5855C>G n.688C>G c.5963C>G (p.Ala1988Gly) n.5669C>G c.6272C>G (p.Ala2091Gly) c.5465C>G (p.Ala1822Gly) n.414C>G c.1766C>G (p.Ala589Gly) c.5852C>G (p.Ala1951Gly) c.5216C>G (p.Ala1739Gly) c.2006C>G (p.Ala669Gly) | gnomAD v4 |
5 | g.177291967C>T | CA362320036 | NSD1 | c.5399C>T (p.Ala1800Val) c.914C>T (p.Ala305Val) n.5855C>T n.688C>T c.5963C>T (p.Ala1988Val) n.5669C>T c.6272C>T (p.Ala2091Val) c.5465C>T (p.Ala1822Val) n.414C>T c.1766C>T (p.Ala589Val) c.5852C>T (p.Ala1951Val) c.5216C>T (p.Ala1739Val) c.2006C>T (p.Ala669Val) | dbSNP gnomAD v4 |
5 | g.177291968C>A | CA447740651 | NSD1 | c.5400C>A (p.Ala1800=) c.915C>A (p.Ala305=) n.5856C>A n.689C>A c.5964C>A (p.Ala1988=) n.5670C>A c.6273C>A (p.Ala2091=) c.5466C>A (p.Ala1822=) n.415C>A c.1767C>A (p.Ala589=) c.5853C>A (p.Ala1951=) c.5217C>A (p.Ala1739=) c.2007C>A (p.Ala669=) | |
5 | g.177291968C>G | CA447740652 | NSD1 | c.5400C>G (p.Ala1800=) c.915C>G (p.Ala305=) n.5856C>G n.689C>G c.5964C>G (p.Ala1988=) n.5670C>G c.6273C>G (p.Ala2091=) c.5466C>G (p.Ala1822=) n.415C>G c.1767C>G (p.Ala589=) c.5853C>G (p.Ala1951=) c.5217C>G (p.Ala1739=) c.2007C>G (p.Ala669=) | |
5 | g.177291968C>T | CA447740653 | NSD1 | c.5400C>T (p.Ala1800=) c.915C>T (p.Ala305=) n.5856C>T n.689C>T c.5964C>T (p.Ala1988=) n.5670C>T c.6273C>T (p.Ala2091=) c.5466C>T (p.Ala1822=) n.415C>T c.1767C>T (p.Ala589=) c.5853C>T (p.Ala1951=) c.5217C>T (p.Ala1739=) c.2007C>T (p.Ala669=) | gnomAD v4 |
5 | g.177291969A>C | CA362320040 | NSD1 | c.5401A>C (p.Thr1801Pro) c.916A>C (p.Thr306Pro) n.5857A>C n.690A>C c.5965A>C (p.Thr1989Pro) n.5671A>C c.6274A>C (p.Thr2092Pro) c.5467A>C (p.Thr1823Pro) n.416A>C c.1768A>C (p.Thr590Pro) c.5854A>C (p.Thr1952Pro) c.5218A>C (p.Thr1740Pro) c.2008A>C (p.Thr670Pro) | |
5 | g.177291969A>G | CA362320042 | NSD1 | c.5401A>G (p.Thr1801Ala) c.916A>G (p.Thr306Ala) n.5857A>G n.690A>G c.5965A>G (p.Thr1989Ala) n.5671A>G c.6274A>G (p.Thr2092Ala) c.5467A>G (p.Thr1823Ala) n.416A>G c.1768A>G (p.Thr590Ala) c.5854A>G (p.Thr1952Ala) c.5218A>G (p.Thr1740Ala) c.2008A>G (p.Thr670Ala) | |
5 | g.177291969A>T | CA362320045 | NSD1 | c.5401A>T (p.Thr1801Ser) c.916A>T (p.Thr306Ser) n.5857A>T n.690A>T c.5965A>T (p.Thr1989Ser) n.5671A>T c.6274A>T (p.Thr2092Ser) c.5467A>T (p.Thr1823Ser) n.416A>T c.1768A>T (p.Thr590Ser) c.5854A>T (p.Thr1952Ser) c.5218A>T (p.Thr1740Ser) c.2008A>T (p.Thr670Ser) | gnomAD v4 |
5 | g.177291970C>A | CA3577974 | NSD1 | c.5402C>A (p.Thr1801Lys) c.917C>A (p.Thr306Lys) n.5858C>A n.691C>A c.5966C>A (p.Thr1989Lys) n.5672C>A c.6275C>A (p.Thr2092Lys) c.5468C>A (p.Thr1823Lys) n.417C>A c.1769C>A (p.Thr590Lys) c.5855C>A (p.Thr1952Lys) c.5219C>A (p.Thr1740Lys) c.2009C>A (p.Thr670Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.177291970C= | CA1603532610 | NSD1 | c.5402C= (p.Thr1801=) c.917C= (p.Thr306=) n.5858C= n.691C= c.5966C= (p.Thr1989=) n.5672C= c.6275C= (p.Thr2092=) c.5468C= (p.Thr1823=) n.417C= c.1769C= (p.Thr590=) c.5855C= (p.Thr1952=) c.5219C= (p.Thr1740=) c.2009C= (p.Thr670=) | |
5 | g.177291970C>G | CA362320050 | NSD1 | c.5402C>G (p.Thr1801Arg) c.917C>G (p.Thr306Arg) n.5858C>G n.691C>G c.5966C>G (p.Thr1989Arg) n.5672C>G c.6275C>G (p.Thr2092Arg) c.5468C>G (p.Thr1823Arg) n.417C>G c.1769C>G (p.Thr590Arg) c.5855C>G (p.Thr1952Arg) c.5219C>G (p.Thr1740Arg) c.2009C>G (p.Thr670Arg) | |
5 | g.177291970C>T | CA362320053 | NSD1 | c.5402C>T (p.Thr1801Met) c.917C>T (p.Thr306Met) n.5858C>T n.691C>T c.5966C>T (p.Thr1989Met) n.5672C>T c.6275C>T (p.Thr2092Met) c.5468C>T (p.Thr1823Met) n.417C>T c.1769C>T (p.Thr590Met) c.5855C>T (p.Thr1952Met) c.5219C>T (p.Thr1740Met) c.2009C>T (p.Thr670Met) | dbSNP gnomAD v4 COSMIC COSMIC |
5 | g.177291971G>A | CA3577975 | NSD1 | c.5403G>A (p.Thr1801=) c.918G>A (p.Thr306=) n.5859G>A n.692G>A c.5967G>A (p.Thr1989=) n.5673G>A c.6276G>A (p.Thr2092=) c.5469G>A (p.Thr1823=) n.418G>A c.1770G>A (p.Thr590=) c.5856G>A (p.Thr1952=) c.5220G>A (p.Thr1740=) c.2010G>A (p.Thr670=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.177291971G>C | CA447740657 | NSD1 | c.5403G>C (p.Thr1801=) c.918G>C (p.Thr306=) n.5859G>C n.692G>C c.5967G>C (p.Thr1989=) n.5673G>C c.6276G>C (p.Thr2092=) c.5469G>C (p.Thr1823=) n.418G>C c.1770G>C (p.Thr590=) c.5856G>C (p.Thr1952=) c.5220G>C (p.Thr1740=) c.2010G>C (p.Thr670=) | |
5 | g.177291971G= | CA1603532613 | NSD1 | c.5403G= (p.Thr1801=) c.918G= (p.Thr306=) n.5859G= n.692G= c.5967G= (p.Thr1989=) n.5673G= c.6276G= (p.Thr2092=) c.5469G= (p.Thr1823=) n.418G= c.1770G= (p.Thr590=) c.5856G= (p.Thr1952=) c.5220G= (p.Thr1740=) c.2010G= (p.Thr670=) | |
5 | g.177291971G>T | CA447740656 | NSD1 | c.5403G>T (p.Thr1801=) c.918G>T (p.Thr306=) n.5859G>T n.692G>T c.5967G>T (p.Thr1989=) n.5673G>T c.6276G>T (p.Thr2092=) c.5469G>T (p.Thr1823=) n.418G>T c.1770G>T (p.Thr590=) c.5856G>T (p.Thr1952=) c.5220G>T (p.Thr1740=) c.2010G>T (p.Thr670=) | |
5 | g.177291972G>A | CA362320061 | NSD1 | c.5404G>A (p.Glu1802Lys) c.919G>A (p.Glu307Lys) n.5860G>A n.693G>A c.5968G>A (p.Glu1990Lys) n.5674G>A c.6277G>A (p.Glu2093Lys) c.5470G>A (p.Glu1824Lys) n.419G>A c.1771G>A (p.Glu591Lys) c.5857G>A (p.Glu1953Lys) c.5221G>A (p.Glu1741Lys) c.2011G>A (p.Glu671Lys) | dbSNP gnomAD v4 |
5 | g.177291972G>C | CA362320064 | NSD1 | c.5404G>C (p.Glu1802Gln) c.919G>C (p.Glu307Gln) n.5860G>C n.693G>C c.5968G>C (p.Glu1990Gln) n.5674G>C c.6277G>C (p.Glu2093Gln) c.5470G>C (p.Glu1824Gln) n.419G>C c.1771G>C (p.Glu591Gln) c.5857G>C (p.Glu1953Gln) c.5221G>C (p.Glu1741Gln) c.2011G>C (p.Glu671Gln) | |
5 | g.177291972G= | CA1603532615 | NSD1 | c.5404G= (p.Glu1802=) c.919G= (p.Glu307=) n.5860G= n.693G= c.5968G= (p.Glu1990=) n.5674G= c.6277G= (p.Glu2093=) c.5470G= (p.Glu1824=) n.419G= c.1771G= (p.Glu591=) c.5857G= (p.Glu1953=) c.5221G= (p.Glu1741=) c.2011G= (p.Glu671=) | |
5 | g.177291972G>T | CA362320058 | NSD1 | c.5404G>T (p.Glu1802Ter) c.919G>T (p.Glu307Ter) n.5860G>T n.693G>T c.5968G>T (p.Glu1990Ter) n.5674G>T c.6277G>T (p.Glu2093Ter) c.5470G>T (p.Glu1824Ter) n.419G>T c.1771G>T (p.Glu591Ter) c.5857G>T (p.Glu1953Ter) c.5221G>T (p.Glu1741Ter) c.2011G>T (p.Glu671Ter) | |
5 | g.177291973A>C | CA362320069 | NSD1 | c.5405A>C (p.Glu1802Ala) c.920A>C (p.Glu307Ala) n.5861A>C n.694A>C c.5969A>C (p.Glu1990Ala) n.5675A>C c.6278A>C (p.Glu2093Ala) c.5471A>C (p.Glu1824Ala) n.420A>C c.1772A>C (p.Glu591Ala) c.5858A>C (p.Glu1953Ala) c.5222A>C (p.Glu1741Ala) c.2012A>C (p.Glu671Ala) | |
5 | g.177291973A>G | CA362320067 | NSD1 | c.5405A>G (p.Glu1802Gly) c.920A>G (p.Glu307Gly) n.5861A>G n.694A>G c.5969A>G (p.Glu1990Gly) n.5675A>G c.6278A>G (p.Glu2093Gly) c.5471A>G (p.Glu1824Gly) n.420A>G c.1772A>G (p.Glu591Gly) c.5858A>G (p.Glu1953Gly) c.5222A>G (p.Glu1741Gly) c.2012A>G (p.Glu671Gly) | |
5 | g.177291973A>T | CA362320073 | NSD1 | c.5405A>T (p.Glu1802Val) c.920A>T (p.Glu307Val) n.5861A>T n.694A>T c.5969A>T (p.Glu1990Val) n.5675A>T c.6278A>T (p.Glu2093Val) c.5471A>T (p.Glu1824Val) n.420A>T c.1772A>T (p.Glu591Val) c.5858A>T (p.Glu1953Val) c.5222A>T (p.Glu1741Val) c.2012A>T (p.Glu671Val) | |
5 | g.177291974A>C | CA362320075 | NSD1 | c.5406A>C (p.Glu1802Asp) c.921A>C (p.Glu307Asp) n.5862A>C n.695A>C c.5970A>C (p.Glu1990Asp) n.5676A>C c.6279A>C (p.Glu2093Asp) c.5472A>C (p.Glu1824Asp) n.421A>C c.1773A>C (p.Glu591Asp) c.5859A>C (p.Glu1953Asp) c.5223A>C (p.Glu1741Asp) c.2013A>C (p.Glu671Asp) | |
5 | g.177291974A>G | CA447740661 | NSD1 | c.5406A>G (p.Glu1802=) c.921A>G (p.Glu307=) n.5862A>G n.695A>G c.5970A>G (p.Glu1990=) n.5676A>G c.6279A>G (p.Glu2093=) c.5472A>G (p.Glu1824=) n.421A>G c.1773A>G (p.Glu591=) c.5859A>G (p.Glu1953=) c.5223A>G (p.Glu1741=) c.2013A>G (p.Glu671=) | |
5 | g.177291974A>T | CA362320079 | NSD1 | c.5406A>T (p.Glu1802Asp) c.921A>T (p.Glu307Asp) n.5862A>T n.695A>T c.5970A>T (p.Glu1990Asp) n.5676A>T c.6279A>T (p.Glu2093Asp) c.5472A>T (p.Glu1824Asp) n.421A>T c.1773A>T (p.Glu591Asp) c.5859A>T (p.Glu1953Asp) c.5223A>T (p.Glu1741Asp) c.2013A>T (p.Glu671Asp) | |
5 | g.177291975G>A | CA362320082 | NSD1 | c.5407G>A (p.Glu1803Lys) c.922G>A (p.Glu308Lys) n.5863G>A n.696G>A c.5971G>A (p.Glu1991Lys) n.5677G>A c.6280G>A (p.Glu2094Lys) c.5473G>A (p.Glu1825Lys) n.422G>A c.1774G>A (p.Glu592Lys) c.5860G>A (p.Glu1954Lys) c.5224G>A (p.Glu1742Lys) c.2014G>A (p.Glu672Lys) | COSMIC COSMIC |
5 | g.177291975G>C | CA132861243 | NSD1 | c.5407G>C (p.Glu1803Gln) c.922G>C (p.Glu308Gln) n.5863G>C n.696G>C c.5971G>C (p.Glu1991Gln) n.5677G>C c.6280G>C (p.Glu2094Gln) c.5473G>C (p.Glu1825Gln) n.422G>C c.1774G>C (p.Glu592Gln) c.5860G>C (p.Glu1954Gln) c.5224G>C (p.Glu1742Gln) c.2014G>C (p.Glu672Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.177291975G= | CA1603532618 | NSD1 | c.5407G= (p.Glu1803=) c.922G= (p.Glu308=) n.5863G= n.696G= c.5971G= (p.Glu1991=) n.5677G= c.6280G= (p.Glu2094=) c.5473G= (p.Glu1825=) n.422G= c.1774G= (p.Glu592=) c.5860G= (p.Glu1954=) c.5224G= (p.Glu1742=) c.2014G= (p.Glu672=) | |
5 | g.177291975G>T | CA362320087 | NSD1 | c.5407G>T (p.Glu1803Ter) c.922G>T (p.Glu308Ter) n.5863G>T n.696G>T c.5971G>T (p.Glu1991Ter) n.5677G>T c.6280G>T (p.Glu2094Ter) c.5473G>T (p.Glu1825Ter) n.422G>T c.1774G>T (p.Glu592Ter) c.5860G>T (p.Glu1954Ter) c.5224G>T (p.Glu1742Ter) c.2014G>T (p.Glu672Ter) | |
5 | g.177291976A>C | CA362320090 | NSD1 | c.5408A>C (p.Glu1803Ala) c.923A>C (p.Glu308Ala) n.5864A>C n.697A>C c.5972A>C (p.Glu1991Ala) n.5678A>C c.6281A>C (p.Glu2094Ala) c.5474A>C (p.Glu1825Ala) n.423A>C c.1775A>C (p.Glu592Ala) c.5861A>C (p.Glu1954Ala) c.5225A>C (p.Glu1742Ala) c.2015A>C (p.Glu672Ala) | |
5 | g.177291976A>G | CA362320093 | NSD1 | c.5408A>G (p.Glu1803Gly) c.923A>G (p.Glu308Gly) n.5864A>G n.697A>G c.5972A>G (p.Glu1991Gly) n.5678A>G c.6281A>G (p.Glu2094Gly) c.5474A>G (p.Glu1825Gly) n.423A>G c.1775A>G (p.Glu592Gly) c.5861A>G (p.Glu1954Gly) c.5225A>G (p.Glu1742Gly) c.2015A>G (p.Glu672Gly) | |
5 | g.177291976A>T | CA362320095 | NSD1 | c.5408A>T (p.Glu1803Val) c.923A>T (p.Glu308Val) n.5864A>T n.697A>T c.5972A>T (p.Glu1991Val) n.5678A>T c.6281A>T (p.Glu2094Val) c.5474A>T (p.Glu1825Val) n.423A>T c.1775A>T (p.Glu592Val) c.5861A>T (p.Glu1954Val) c.5225A>T (p.Glu1742Val) c.2015A>T (p.Glu672Val) | |
5 | g.177291977A= | CA1603532621 | NSD1 | c.5409A= (p.Glu1803=) c.924A= (p.Glu308=) n.5865A= n.698A= c.5973A= (p.Glu1991=) n.5679A= c.6282A= (p.Glu2094=) c.5475A= (p.Glu1825=) n.424A= c.1776A= (p.Glu592=) c.5862A= (p.Glu1954=) c.5226A= (p.Glu1742=) c.2016A= (p.Glu672=) | |
5 | g.177291977A>C | CA362320097 | NSD1 | c.5409A>C (p.Glu1803Asp) c.924A>C (p.Glu308Asp) n.5865A>C n.698A>C c.5973A>C (p.Glu1991Asp) n.5679A>C c.6282A>C (p.Glu2094Asp) c.5475A>C (p.Glu1825Asp) n.424A>C c.1776A>C (p.Glu592Asp) c.5862A>C (p.Glu1954Asp) c.5226A>C (p.Glu1742Asp) c.2016A>C (p.Glu672Asp) | |
5 | g.177291977A>G | CA447740663 | NSD1 | c.5409A>G (p.Glu1803=) c.924A>G (p.Glu308=) n.5865A>G n.698A>G c.5973A>G (p.Glu1991=) n.5679A>G c.6282A>G (p.Glu2094=) c.5475A>G (p.Glu1825=) n.424A>G c.1776A>G (p.Glu592=) c.5862A>G (p.Glu1954=) c.5226A>G (p.Glu1742=) c.2016A>G (p.Glu672=) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.177291977A>T | CA362320099 | NSD1 | c.5409A>T (p.Glu1803Asp) c.924A>T (p.Glu308Asp) n.5865A>T n.698A>T c.5973A>T (p.Glu1991Asp) n.5679A>T c.6282A>T (p.Glu2094Asp) c.5475A>T (p.Glu1825Asp) n.424A>T c.1776A>T (p.Glu592Asp) c.5862A>T (p.Glu1954Asp) c.5226A>T (p.Glu1742Asp) c.2016A>T (p.Glu672Asp) | |
5 | g.177291978A>C | CA362320102 | NSD1 | c.5410A>C (p.Lys1804Gln) c.925A>C (p.Lys309Gln) n.5866A>C n.699A>C c.5974A>C (p.Lys1992Gln) n.5680A>C c.6283A>C (p.Lys2095Gln) c.5476A>C (p.Lys1826Gln) n.425A>C c.1777A>C (p.Lys593Gln) c.5863A>C (p.Lys1955Gln) c.5227A>C (p.Lys1743Gln) c.2017A>C (p.Lys673Gln) | |
5 | g.177291978A>G | CA362320104 | NSD1 | c.5410A>G (p.Lys1804Glu) c.925A>G (p.Lys309Glu) n.5866A>G n.699A>G c.5974A>G (p.Lys1992Glu) n.5680A>G c.6283A>G (p.Lys2095Glu) c.5476A>G (p.Lys1826Glu) n.425A>G c.1777A>G (p.Lys593Glu) c.5863A>G (p.Lys1955Glu) c.5227A>G (p.Lys1743Glu) c.2017A>G (p.Lys673Glu) | |
5 | g.177291978A>T | CA362320108 | NSD1 | c.5410A>T (p.Lys1804Ter) c.925A>T (p.Lys309Ter) n.5866A>T n.699A>T c.5974A>T (p.Lys1992Ter) n.5680A>T c.6283A>T (p.Lys2095Ter) c.5476A>T (p.Lys1826Ter) n.425A>T c.1777A>T (p.Lys593Ter) c.5863A>T (p.Lys1955Ter) c.5227A>T (p.Lys1743Ter) c.2017A>T (p.Lys673Ter) | |
5 | g.177291980_177291984del | CA2695205734 | NSD1 | c.5412_5416del (p.Ser1805GlufsTer15) c.927_931del (p.Ser310GlufsTer15) n.5868_5872del n.701_705del c.5976_5980del (p.Ser1993GlufsTer15) n.5682_5686del c.6285_6289del (p.Ser2096GlufsTer15) c.5478_5482del (p.Ser1827GlufsTer15) n.427_431del c.1779_1783del (p.Ser594GlufsTer15) c.5865_5869del (p.Ser1956GlufsTer15) c.5229_5233del (p.Ser1744GlufsTer15) c.2019_2023del (p.Ser674GlufsTer15) | |
5 | g.177291979A>C | CA362320116 | NSD1 | c.5411A>C (p.Lys1804Thr) c.926A>C (p.Lys309Thr) n.5867A>C n.700A>C c.5975A>C (p.Lys1992Thr) n.5681A>C c.6284A>C (p.Lys2095Thr) c.5477A>C (p.Lys1826Thr) n.426A>C c.1778A>C (p.Lys593Thr) c.5864A>C (p.Lys1955Thr) c.5228A>C (p.Lys1743Thr) c.2018A>C (p.Lys673Thr) | |
5 | g.177291979A>G | CA362320111 | NSD1 | c.5411A>G (p.Lys1804Arg) c.926A>G (p.Lys309Arg) n.5867A>G n.700A>G c.5975A>G (p.Lys1992Arg) n.5681A>G c.6284A>G (p.Lys2095Arg) c.5477A>G (p.Lys1826Arg) n.426A>G c.1778A>G (p.Lys593Arg) c.5864A>G (p.Lys1955Arg) c.5228A>G (p.Lys1743Arg) c.2018A>G (p.Lys673Arg) | |
5 | g.177291979A>T | CA362320113 | NSD1 | c.5411A>T (p.Lys1804Met) c.926A>T (p.Lys309Met) n.5867A>T n.700A>T c.5975A>T (p.Lys1992Met) n.5681A>T c.6284A>T (p.Lys2095Met) c.5477A>T (p.Lys1826Met) n.426A>T c.1778A>T (p.Lys593Met) c.5864A>T (p.Lys1955Met) c.5228A>T (p.Lys1743Met) c.2018A>T (p.Lys673Met) | |
5 | g.177291980G>A | CA447740666 | NSD1 | c.5412G>A (p.Lys1804=) c.927G>A (p.Lys309=) n.5868G>A n.701G>A c.5976G>A (p.Lys1992=) n.5682G>A c.6285G>A (p.Lys2095=) c.5478G>A (p.Lys1826=) n.427G>A c.1779G>A (p.Lys593=) c.5865G>A (p.Lys1955=) c.5229G>A (p.Lys1743=) c.2019G>A (p.Lys673=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.177291980G>C | CA362320119 | NSD1 | c.5412G>C (p.Lys1804Asn) c.927G>C (p.Lys309Asn) n.5868G>C n.701G>C c.5976G>C (p.Lys1992Asn) n.5682G>C c.6285G>C (p.Lys2095Asn) c.5478G>C (p.Lys1826Asn) n.427G>C c.1779G>C (p.Lys593Asn) c.5865G>C (p.Lys1955Asn) c.5229G>C (p.Lys1743Asn) c.2019G>C (p.Lys673Asn) | |
5 | g.177291980G= | CA1603532629 | NSD1 | c.5412G= (p.Lys1804=) c.927G= (p.Lys309=) n.5868G= n.701G= c.5976G= (p.Lys1992=) n.5682G= c.6285G= (p.Lys2095=) c.5478G= (p.Lys1826=) n.427G= c.1779G= (p.Lys593=) c.5865G= (p.Lys1955=) c.5229G= (p.Lys1743=) c.2019G= (p.Lys673=) | |
5 | g.177291980G>T | CA362320122 | NSD1 | c.5412G>T (p.Lys1804Asn) c.927G>T (p.Lys309Asn) n.5868G>T n.701G>T c.5976G>T (p.Lys1992Asn) n.5682G>T c.6285G>T (p.Lys2095Asn) c.5478G>T (p.Lys1826Asn) n.427G>T c.1779G>T (p.Lys593Asn) c.5865G>T (p.Lys1955Asn) c.5229G>T (p.Lys1743Asn) c.2019G>T (p.Lys673Asn) | |
5 | g.177291981T>A | CA362320125 | NSD1 | c.5413T>A (p.Ser1805Thr) c.928T>A (p.Ser310Thr) n.5869T>A n.702T>A c.5977T>A (p.Ser1993Thr) n.5683T>A c.6286T>A (p.Ser2096Thr) c.5479T>A (p.Ser1827Thr) n.428T>A c.1780T>A (p.Ser594Thr) c.5866T>A (p.Ser1956Thr) c.5230T>A (p.Ser1744Thr) c.2020T>A (p.Ser674Thr) | dbSNP |
5 | g.177291981T>C | CA362320128 | NSD1 | c.5413T>C (p.Ser1805Pro) c.928T>C (p.Ser310Pro) n.5869T>C n.702T>C c.5977T>C (p.Ser1993Pro) n.5683T>C c.6286T>C (p.Ser2096Pro) c.5479T>C (p.Ser1827Pro) n.428T>C c.1780T>C (p.Ser594Pro) c.5866T>C (p.Ser1956Pro) c.5230T>C (p.Ser1744Pro) c.2020T>C (p.Ser674Pro) | |
5 | g.177291981T>G | CA362320131 | NSD1 | c.5413T>G (p.Ser1805Ala) c.928T>G (p.Ser310Ala) n.5869T>G n.702T>G c.5977T>G (p.Ser1993Ala) n.5683T>G c.6286T>G (p.Ser2096Ala) c.5479T>G (p.Ser1827Ala) n.428T>G c.1780T>G (p.Ser594Ala) c.5866T>G (p.Ser1956Ala) c.5230T>G (p.Ser1744Ala) c.2020T>G (p.Ser674Ala) | |
5 | g.177291982C>A | CA362320134 | NSD1 | c.5414C>A (p.Ser1805Ter) c.929C>A (p.Ser310Ter) n.5870C>A n.703C>A c.5978C>A (p.Ser1993Ter) n.5684C>A c.6287C>A (p.Ser2096Ter) c.5480C>A (p.Ser1827Ter) n.429C>A c.1781C>A (p.Ser594Ter) c.5867C>A (p.Ser1956Ter) c.5231C>A (p.Ser1744Ter) c.2021C>A (p.Ser674Ter) | |
5 | g.177291982C= | CA1603532632 | NSD1 | c.5414C= (p.Ser1805=) c.929C= (p.Ser310=) n.5870C= n.703C= c.5978C= (p.Ser1993=) n.5684C= c.6287C= (p.Ser2096=) c.5480C= (p.Ser1827=) n.429C= c.1781C= (p.Ser594=) c.5867C= (p.Ser1956=) c.5231C= (p.Ser1744=) c.2021C= (p.Ser674=) | |
5 | g.177291982C>G | CA362320135 | NSD1 | c.5414C>G (p.Ser1805Ter) c.929C>G (p.Ser310Ter) n.5870C>G n.703C>G c.5978C>G (p.Ser1993Ter) n.5684C>G c.6287C>G (p.Ser2096Ter) c.5480C>G (p.Ser1827Ter) n.429C>G c.1781C>G (p.Ser594Ter) c.5867C>G (p.Ser1956Ter) c.5231C>G (p.Ser1744Ter) c.2021C>G (p.Ser674Ter) | |
5 | g.177291982C>T | CA362320138 | NSD1 | c.5414C>T (p.Ser1805Leu) c.929C>T (p.Ser310Leu) n.5870C>T n.703C>T c.5978C>T (p.Ser1993Leu) n.5684C>T c.6287C>T (p.Ser2096Leu) c.5480C>T (p.Ser1827Leu) n.429C>T c.1781C>T (p.Ser594Leu) c.5867C>T (p.Ser1956Leu) c.5231C>T (p.Ser1744Leu) c.2021C>T (p.Ser674Leu) | |
5 | g.177291983A>C | CA447740671 | NSD1 | c.5415A>C (p.Ser1805=) c.930A>C (p.Ser310=) n.5871A>C n.704A>C c.5979A>C (p.Ser1993=) n.5685A>C c.6288A>C (p.Ser2096=) c.5481A>C (p.Ser1827=) n.430A>C c.1782A>C (p.Ser594=) c.5868A>C (p.Ser1956=) c.5232A>C (p.Ser1744=) c.2022A>C (p.Ser674=) | |
5 | g.177291983A>G | CA447740672 | NSD1 | c.5415A>G (p.Ser1805=) c.930A>G (p.Ser310=) n.5871A>G n.704A>G c.5979A>G (p.Ser1993=) n.5685A>G c.6288A>G (p.Ser2096=) c.5481A>G (p.Ser1827=) n.430A>G c.1782A>G (p.Ser594=) c.5868A>G (p.Ser1956=) c.5232A>G (p.Ser1744=) c.2022A>G (p.Ser674=) | |
5 | g.177291983A>T | CA447740673 | NSD1 | c.5415A>T (p.Ser1805=) c.930A>T (p.Ser310=) n.5871A>T n.704A>T c.5979A>T (p.Ser1993=) n.5685A>T c.6288A>T (p.Ser2096=) c.5481A>T (p.Ser1827=) n.430A>T c.1782A>T (p.Ser594=) c.5868A>T (p.Ser1956=) c.5232A>T (p.Ser1744=) c.2022A>T (p.Ser674=) | |
5 | g.177291985dup | CA319737 | NSD1 | c.5417dup (p.Lys1807GlufsTer15) c.932dup (p.Lys312GlufsTer15) n.5873dup n.706dup c.5981dup (p.Lys1995GlufsTer15) n.5687dup c.6290dup (p.Lys2098GlufsTer15) c.5483dup (p.Lys1829GlufsTer15) n.432dup c.1784dup (p.Lys596GlufsTer15) c.5870dup (p.Lys1958GlufsTer15) c.5234dup (p.Lys1746GlufsTer15) c.2024dup (p.Lys676GlufsTer15) | ClinVar dbSNP |
5 | g.177291986_177291989del | CA2499217788 | NSD1 | c.5418_5421del (p.Lys1806AsnfsTer?) c.933_936del (p.Lys311AsnfsTer?) n.5874_5877del n.707_710del c.5982_5985del (p.Lys1994AsnfsTer?) n.5688_5691del c.6291_6294del (p.Lys2097AsnfsTer?) c.5484_5487del (p.Lys1828AsnfsTer?) n.433_436del c.1785_1788del (p.Lys595AsnfsTer?) c.5871_5874del (p.Lys1957AsnfsTer?) c.5235_5238del (p.Lys1745AsnfsTer?) c.2025_2028del (p.Lys675AsnfsTer?) | ClinVar dbSNP |
5 | g.177291984A= | CA1603532644 | NSD1 | c.5416A= (p.Lys1806=) c.931A= (p.Lys311=) n.5872A= n.705A= c.5980A= (p.Lys1994=) n.5686A= c.6289A= (p.Lys2097=) c.5482A= (p.Lys1828=) n.431A= c.1783A= (p.Lys595=) c.5869A= (p.Lys1957=) c.5233A= (p.Lys1745=) c.2023A= (p.Lys675=) | |
5 | g.177291984A>C | CA362320142 | NSD1 | c.5416A>C (p.Lys1806Gln) c.931A>C (p.Lys311Gln) n.5872A>C n.705A>C c.5980A>C (p.Lys1994Gln) n.5686A>C c.6289A>C (p.Lys2097Gln) c.5482A>C (p.Lys1828Gln) n.431A>C c.1783A>C (p.Lys595Gln) c.5869A>C (p.Lys1957Gln) c.5233A>C (p.Lys1745Gln) c.2023A>C (p.Lys675Gln) | |
5 | g.177291984A>G | CA16042522 | NSD1 | c.5416A>G (p.Lys1806Glu) c.931A>G (p.Lys311Glu) n.5872A>G n.705A>G c.5980A>G (p.Lys1994Glu) n.5686A>G c.6289A>G (p.Lys2097Glu) c.5482A>G (p.Lys1828Glu) n.431A>G c.1783A>G (p.Lys595Glu) c.5869A>G (p.Lys1957Glu) c.5233A>G (p.Lys1745Glu) c.2023A>G (p.Lys675Glu) | ClinVar dbSNP |
5 | g.177291984A>T | CA362320145 | NSD1 | c.5416A>T (p.Lys1806Ter) c.931A>T (p.Lys311Ter) n.5872A>T n.705A>T c.5980A>T (p.Lys1994Ter) n.5686A>T c.6289A>T (p.Lys2097Ter) c.5482A>T (p.Lys1828Ter) n.431A>T c.1783A>T (p.Lys595Ter) c.5869A>T (p.Lys1957Ter) c.5233A>T (p.Lys1745Ter) c.2023A>T (p.Lys675Ter) | |
5 | g.177291985A>C | CA362320154 | NSD1 | c.5417A>C (p.Lys1806Thr) c.932A>C (p.Lys311Thr) n.5873A>C n.706A>C c.5981A>C (p.Lys1994Thr) n.5687A>C c.6290A>C (p.Lys2097Thr) c.5483A>C (p.Lys1828Thr) n.432A>C c.1784A>C (p.Lys595Thr) c.5870A>C (p.Lys1957Thr) c.5234A>C (p.Lys1745Thr) c.2024A>C (p.Lys675Thr) | |
5 | g.177291985A>G | CA362320151 | NSD1 | c.5417A>G (p.Lys1806Arg) c.932A>G (p.Lys311Arg) n.5873A>G n.706A>G c.5981A>G (p.Lys1994Arg) n.5687A>G c.6290A>G (p.Lys2097Arg) c.5483A>G (p.Lys1828Arg) n.432A>G c.1784A>G (p.Lys595Arg) c.5870A>G (p.Lys1957Arg) c.5234A>G (p.Lys1745Arg) c.2024A>G (p.Lys675Arg) | |
5 | g.177291985A>T | CA362320149 | NSD1 | c.5417A>T (p.Lys1806Met) c.932A>T (p.Lys311Met) n.5873A>T n.706A>T c.5981A>T (p.Lys1994Met) n.5687A>T c.6290A>T (p.Lys2097Met) c.5483A>T (p.Lys1828Met) n.432A>T c.1784A>T (p.Lys595Met) c.5870A>T (p.Lys1957Met) c.5234A>T (p.Lys1745Met) c.2024A>T (p.Lys675Met) | |
5 | g.177291985_177291986delinsAG | CA1603532656 | NSD1 | c.5417_5418delinsAG (p.Lys1806=) c.932_933delinsAG (p.Lys311=) n.5873_5874delinsAG n.706_707delinsAG c.5981_5982delinsAG (p.Lys1994=) n.5687_5688delinsAG c.6290_6291delinsAG (p.Lys2097=) c.5483_5484delinsAG (p.Lys1828=) n.432_433delinsAG c.1784_1785delinsAG (p.Lys595=) c.5870_5871delinsAG (p.Lys1957=) c.5234_5235delinsAG (p.Lys1745=) c.2024_2025delinsAG (p.Lys675=) | |
5 | g.177291986del | CA295051 | NSD1 | c.5418del (p.Lys1807AsnfsTer?) c.933del (p.Lys312AsnfsTer?) n.5874del n.707del c.5982del (p.Lys1995AsnfsTer?) n.5688del c.6291del (p.Lys2098AsnfsTer?) c.5484del (p.Lys1829AsnfsTer?) n.433del c.1785del (p.Lys596AsnfsTer?) c.5871del (p.Lys1958AsnfsTer?) c.5235del (p.Lys1746AsnfsTer?) c.2025del (p.Lys676AsnfsTer?) | ClinVar dbSNP |
5 | g.177291986G>A | CA447740675 | NSD1 | c.5418G>A (p.Lys1806=) c.933G>A (p.Lys311=) n.5874G>A n.707G>A c.5982G>A (p.Lys1994=) n.5688G>A c.6291G>A (p.Lys2097=) c.5484G>A (p.Lys1828=) n.433G>A c.1785G>A (p.Lys595=) c.5871G>A (p.Lys1957=) c.5235G>A (p.Lys1745=) c.2025G>A (p.Lys675=) | dbSNP |
5 | g.177291986G>C | CA362320157 | NSD1 | c.5418G>C (p.Lys1806Asn) c.933G>C (p.Lys311Asn) n.5874G>C n.707G>C c.5982G>C (p.Lys1994Asn) n.5688G>C c.6291G>C (p.Lys2097Asn) c.5484G>C (p.Lys1828Asn) n.433G>C c.1785G>C (p.Lys595Asn) c.5871G>C (p.Lys1957Asn) c.5235G>C (p.Lys1745Asn) c.2025G>C (p.Lys675Asn) | |
5 | g.177291986G= | CA1603532667 | NSD1 | c.5418G= (p.Lys1806=) c.933G= (p.Lys311=) n.5874G= n.707G= c.5982G= (p.Lys1994=) n.5688G= c.6291G= (p.Lys2097=) c.5484G= (p.Lys1828=) n.433G= c.1785G= (p.Lys595=) c.5871G= (p.Lys1957=) c.5235G= (p.Lys1745=) c.2025G= (p.Lys675=) | |
5 | g.177291986G>T | CA362320159 | NSD1 | c.5418G>T (p.Lys1806Asn) c.933G>T (p.Lys311Asn) n.5874G>T n.707G>T c.5982G>T (p.Lys1994Asn) n.5688G>T c.6291G>T (p.Lys2097Asn) c.5484G>T (p.Lys1828Asn) n.433G>T c.1785G>T (p.Lys595Asn) c.5871G>T (p.Lys1957Asn) c.5235G>T (p.Lys1745Asn) c.2025G>T (p.Lys675Asn) | |
5 | g.177291986_177291992delinsGAAATTC | CA1603532664 | NSD1 | c.5418_5424delinsGAAATTC (p.Lys1806=) c.933_939delinsGAAATTC (p.Lys311=) n.5874_5880delinsGAAATTC n.707_713delinsGAAATTC c.5982_5988delinsGAAATTC (p.Lys1994=) n.5688_5694delinsGAAATTC c.6291_6297delinsGAAATTC (p.Lys2097=) c.5484_5490delinsGAAATTC (p.Lys1828=) n.433_439delinsGAAATTC c.1785_1791delinsGAAATTC (p.Lys595=) c.5871_5877delinsGAAATTC (p.Lys1957=) c.5235_5241delinsGAAATTC (p.Lys1745=) c.2025_2031delinsGAAATTC (p.Lys675=) | |
5 | g.177291987A= | CA1603532678 | NSD1 | c.5419A= (p.Lys1807=) c.934A= (p.Lys312=) n.5875A= n.708A= c.5983A= (p.Lys1995=) n.5689A= c.6292A= (p.Lys2098=) c.5485A= (p.Lys1829=) n.434A= c.1786A= (p.Lys596=) c.5872A= (p.Lys1958=) c.5236A= (p.Lys1746=) c.2026A= (p.Lys676=) | |
5 | g.177291987A>C | CA362320165 | NSD1 | c.5419A>C (p.Lys1807Gln) c.934A>C (p.Lys312Gln) n.5875A>C n.708A>C c.5983A>C (p.Lys1995Gln) n.5689A>C c.6292A>C (p.Lys2098Gln) c.5485A>C (p.Lys1829Gln) n.434A>C c.1786A>C (p.Lys596Gln) c.5872A>C (p.Lys1958Gln) c.5236A>C (p.Lys1746Gln) c.2026A>C (p.Lys676Gln) | dbSNP |
5 | g.177291987A>G | CA362320167 | NSD1 | c.5419A>G (p.Lys1807Glu) c.934A>G (p.Lys312Glu) n.5875A>G n.708A>G c.5983A>G (p.Lys1995Glu) n.5689A>G c.6292A>G (p.Lys2098Glu) c.5485A>G (p.Lys1829Glu) n.434A>G c.1786A>G (p.Lys596Glu) c.5872A>G (p.Lys1958Glu) c.5236A>G (p.Lys1746Glu) c.2026A>G (p.Lys676Glu) | |
5 | g.177291987A>T | CA362320169 | NSD1 | c.5419A>T (p.Lys1807Ter) c.934A>T (p.Lys312Ter) n.5875A>T n.708A>T c.5983A>T (p.Lys1995Ter) n.5689A>T c.6292A>T (p.Lys2098Ter) c.5485A>T (p.Lys1829Ter) n.434A>T c.1786A>T (p.Lys596Ter) c.5872A>T (p.Lys1958Ter) c.5236A>T (p.Lys1746Ter) c.2026A>T (p.Lys676Ter) | |
5 | g.177291989del | CA2499217789 | NSD1 | c.5421del (p.Lys1807AsnfsTer?) c.936del (p.Lys312AsnfsTer?) n.5877del n.710del c.5985del (p.Lys1995AsnfsTer?) n.5691del c.6294del (p.Lys2098AsnfsTer?) c.5487del (p.Lys1829AsnfsTer?) n.436del c.1788del (p.Lys596AsnfsTer?) c.5874del (p.Lys1958AsnfsTer?) c.5238del (p.Lys1746AsnfsTer?) c.2028del (p.Lys676AsnfsTer?) | ClinVar dbSNP |
5 | g.177291989_177291994del | CA3577976 | NSD1 | c.5421_5426del (p.Phe1808_Lys1809del) c.936_941del (p.Phe313_Lys314del) n.5877_5882del n.710_715del c.5985_5990del (p.Phe1996_Lys1997del) n.5691_5696del c.6294_6299del (p.Phe2099_Lys2100del) c.5487_5492del (p.Phe1830_Lys1831del) n.436_441del c.1788_1793del (p.Phe597_Lys598del) c.5874_5879del (p.Phe1959_Lys1960del) c.5238_5243del (p.Phe1747_Lys1748del) c.2028_2033del (p.Phe677_Lys678del) | dbSNP ExAC gnomAD v2 |
5 | g.177291988A>C | CA362320174 | NSD1 | c.5420A>C (p.Lys1807Thr) c.935A>C (p.Lys312Thr) n.5876A>C n.709A>C c.5984A>C (p.Lys1995Thr) n.5690A>C c.6293A>C (p.Lys2098Thr) c.5486A>C (p.Lys1829Thr) n.435A>C c.1787A>C (p.Lys596Thr) c.5873A>C (p.Lys1958Thr) c.5237A>C (p.Lys1746Thr) c.2027A>C (p.Lys676Thr) | |
5 | g.177291988A>G | CA362320176 | NSD1 | c.5420A>G (p.Lys1807Arg) c.935A>G (p.Lys312Arg) n.5876A>G n.709A>G c.5984A>G (p.Lys1995Arg) n.5690A>G c.6293A>G (p.Lys2098Arg) c.5486A>G (p.Lys1829Arg) n.435A>G c.1787A>G (p.Lys596Arg) c.5873A>G (p.Lys1958Arg) c.5237A>G (p.Lys1746Arg) c.2027A>G (p.Lys676Arg) | |
5 | g.177291988A>T | CA362320179 | NSD1 | c.5420A>T (p.Lys1807Ile) c.935A>T (p.Lys312Ile) n.5876A>T n.709A>T c.5984A>T (p.Lys1995Ile) n.5690A>T c.6293A>T (p.Lys2098Ile) c.5486A>T (p.Lys1829Ile) n.435A>T c.1787A>T (p.Lys596Ile) c.5873A>T (p.Lys1958Ile) c.5237A>T (p.Lys1746Ile) c.2027A>T (p.Lys676Ile) | |
5 | g.177291989A>C | CA362320181 | NSD1 | c.5421A>C (p.Lys1807Asn) c.936A>C (p.Lys312Asn) n.5877A>C n.710A>C c.5985A>C (p.Lys1995Asn) n.5691A>C c.6294A>C (p.Lys2098Asn) c.5487A>C (p.Lys1829Asn) n.436A>C c.1788A>C (p.Lys596Asn) c.5874A>C (p.Lys1958Asn) c.5238A>C (p.Lys1746Asn) c.2028A>C (p.Lys676Asn) | |
5 | g.177291989A>G | CA447740681 | NSD1 | c.5421A>G (p.Lys1807=) c.936A>G (p.Lys312=) n.5877A>G n.710A>G c.5985A>G (p.Lys1995=) n.5691A>G c.6294A>G (p.Lys2098=) c.5487A>G (p.Lys1829=) n.436A>G c.1788A>G (p.Lys596=) c.5874A>G (p.Lys1958=) c.5238A>G (p.Lys1746=) c.2028A>G (p.Lys676=) | |
5 | g.177291989A>T | CA362320184 | NSD1 | c.5421A>T (p.Lys1807Asn) c.936A>T (p.Lys312Asn) n.5877A>T n.710A>T c.5985A>T (p.Lys1995Asn) n.5691A>T c.6294A>T (p.Lys2098Asn) c.5487A>T (p.Lys1829Asn) n.436A>T c.1788A>T (p.Lys596Asn) c.5874A>T (p.Lys1958Asn) c.5238A>T (p.Lys1746Asn) c.2028A>T (p.Lys676Asn) | |
5 | g.177291990T>A | CA362320189 | NSD1 | c.5422T>A (p.Phe1808Ile) c.937T>A (p.Phe313Ile) n.5878T>A n.711T>A c.5986T>A (p.Phe1996Ile) n.5692T>A c.6295T>A (p.Phe2099Ile) c.5488T>A (p.Phe1830Ile) n.437T>A c.1789T>A (p.Phe597Ile) c.5875T>A (p.Phe1959Ile) c.5239T>A (p.Phe1747Ile) c.2029T>A (p.Phe677Ile) | |
5 | g.177291990T>C | CA362320192 | NSD1 | c.5422T>C (p.Phe1808Leu) c.937T>C (p.Phe313Leu) n.5878T>C n.711T>C c.5986T>C (p.Phe1996Leu) n.5692T>C c.6295T>C (p.Phe2099Leu) c.5488T>C (p.Phe1830Leu) n.437T>C c.1789T>C (p.Phe597Leu) c.5875T>C (p.Phe1959Leu) c.5239T>C (p.Phe1747Leu) c.2029T>C (p.Phe677Leu) | |
5 | g.177291990T>G | CA362320188 | NSD1 | c.5422T>G (p.Phe1808Val) c.937T>G (p.Phe313Val) n.5878T>G n.711T>G c.5986T>G (p.Phe1996Val) n.5692T>G c.6295T>G (p.Phe2099Val) c.5488T>G (p.Phe1830Val) n.437T>G c.1789T>G (p.Phe597Val) c.5875T>G (p.Phe1959Val) c.5239T>G (p.Phe1747Val) c.2029T>G (p.Phe677Val) | |
5 | g.177291991T>A | CA362320196 | NSD1 | c.5423T>A (p.Phe1808Tyr) c.938T>A (p.Phe313Tyr) n.5879T>A n.712T>A c.5987T>A (p.Phe1996Tyr) n.5693T>A c.6296T>A (p.Phe2099Tyr) c.5489T>A (p.Phe1830Tyr) n.438T>A c.1790T>A (p.Phe597Tyr) c.5876T>A (p.Phe1959Tyr) c.5240T>A (p.Phe1747Tyr) c.2030T>A (p.Phe677Tyr) | |
5 | g.177291991T>C | CA362320197 | NSD1 | c.5423T>C (p.Phe1808Ser) c.938T>C (p.Phe313Ser) n.5879T>C n.712T>C c.5987T>C (p.Phe1996Ser) n.5693T>C c.6296T>C (p.Phe2099Ser) c.5489T>C (p.Phe1830Ser) n.438T>C c.1790T>C (p.Phe597Ser) c.5876T>C (p.Phe1959Ser) c.5240T>C (p.Phe1747Ser) c.2030T>C (p.Phe677Ser) | |
5 | g.177291991T>G | CA362320200 | NSD1 | c.5423T>G (p.Phe1808Cys) c.938T>G (p.Phe313Cys) n.5879T>G n.712T>G c.5987T>G (p.Phe1996Cys) n.5693T>G c.6296T>G (p.Phe2099Cys) c.5489T>G (p.Phe1830Cys) n.438T>G c.1790T>G (p.Phe597Cys) c.5876T>G (p.Phe1959Cys) c.5240T>G (p.Phe1747Cys) c.2030T>G (p.Phe677Cys) | |
5 | g.177291992C>A | CA362320203 | NSD1 | c.5424C>A (p.Phe1808Leu) c.939C>A (p.Phe313Leu) n.5880C>A n.713C>A c.5988C>A (p.Phe1996Leu) n.5694C>A c.6297C>A (p.Phe2099Leu) c.5490C>A (p.Phe1830Leu) n.439C>A c.1791C>A (p.Phe597Leu) c.5877C>A (p.Phe1959Leu) c.5241C>A (p.Phe1747Leu) c.2031C>A (p.Phe677Leu) | gnomAD v4 |
5 | g.177291992C= | CA1603532685 | NSD1 | c.5424C= (p.Phe1808=) c.939C= (p.Phe313=) n.5880C= n.713C= c.5988C= (p.Phe1996=) n.5694C= c.6297C= (p.Phe2099=) c.5490C= (p.Phe1830=) n.439C= c.1791C= (p.Phe597=) c.5877C= (p.Phe1959=) c.5241C= (p.Phe1747=) c.2031C= (p.Phe677=) | |
5 | g.177291992C>G | CA362320205 | NSD1 | c.5424C>G (p.Phe1808Leu) c.939C>G (p.Phe313Leu) n.5880C>G n.713C>G c.5988C>G (p.Phe1996Leu) n.5694C>G c.6297C>G (p.Phe2099Leu) c.5490C>G (p.Phe1830Leu) n.439C>G c.1791C>G (p.Phe597Leu) c.5877C>G (p.Phe1959Leu) c.5241C>G (p.Phe1747Leu) c.2031C>G (p.Phe677Leu) | dbSNP gnomAD v4 |
5 | g.177291992C>T | CA447740684 | NSD1 | c.5424C>T (p.Phe1808=) c.939C>T (p.Phe313=) n.5880C>T n.713C>T c.5988C>T (p.Phe1996=) n.5694C>T c.6297C>T (p.Phe2099=) c.5490C>T (p.Phe1830=) n.439C>T c.1791C>T (p.Phe597=) c.5877C>T (p.Phe1959=) c.5241C>T (p.Phe1747=) c.2031C>T (p.Phe677=) | |
5 | g.177291992_177291995delinsCAAG | CA1603532688 | NSD1 | c.5424_5427delinsCAAG (p.Phe1808=) c.939_942delinsCAAG (p.Phe313=) n.5880_5883delinsCAAG n.713_716delinsCAAG c.5988_5991delinsCAAG (p.Phe1996=) n.5694_5697delinsCAAG c.6297_6300delinsCAAG (p.Phe2099=) c.5490_5493delinsCAAG (p.Phe1830=) n.439_442delinsCAAG c.1791_1794delinsCAAG (p.Phe597=) c.5877_5880delinsCAAG (p.Phe1959=) c.5241_5244delinsCAAG (p.Phe1747=) c.2031_2034delinsCAAG (p.Phe677=) | |
5 | g.177291993A>C | CA362320212 | NSD1 | c.5425A>C (p.Lys1809Gln) c.940A>C (p.Lys314Gln) n.5881A>C n.714A>C c.5989A>C (p.Lys1997Gln) n.5695A>C c.6298A>C (p.Lys2100Gln) c.5491A>C (p.Lys1831Gln) n.440A>C c.1792A>C (p.Lys598Gln) c.5878A>C (p.Lys1960Gln) c.5242A>C (p.Lys1748Gln) c.2032A>C (p.Lys678Gln) | |
5 | g.177291993A>G | CA362320209 | NSD1 | c.5425A>G (p.Lys1809Glu) c.940A>G (p.Lys314Glu) n.5881A>G n.714A>G c.5989A>G (p.Lys1997Glu) n.5695A>G c.6298A>G (p.Lys2100Glu) c.5491A>G (p.Lys1831Glu) n.440A>G c.1792A>G (p.Lys598Glu) c.5878A>G (p.Lys1960Glu) c.5242A>G (p.Lys1748Glu) c.2032A>G (p.Lys678Glu) | |
5 | g.177291993A>T | CA362320211 | NSD1 | c.5425A>T (p.Lys1809Ter) c.940A>T (p.Lys314Ter) n.5881A>T n.714A>T c.5989A>T (p.Lys1997Ter) n.5695A>T c.6298A>T (p.Lys2100Ter) c.5491A>T (p.Lys1831Ter) n.440A>T c.1792A>T (p.Lys598Ter) c.5878A>T (p.Lys1960Ter) c.5242A>T (p.Lys1748Ter) c.2032A>T (p.Lys678Ter) | |
5 | g.177291999_177292001del | CA564899189 | NSD1 | c.5431_5433del (p.Lys1811del) c.946_948del (p.Lys316del) n.5887_5889del n.720_722del c.5995_5997del (p.Lys1999del) n.5701_5703del c.6304_6306del (p.Lys2102del) c.5497_5499del (p.Lys1833del) n.446_448del c.1798_1800del (p.Lys600del) c.5884_5886del (p.Lys1962del) c.5248_5250del (p.Lys1750del) c.2038_2040del (p.Lys680del) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.177291994A= | CA1603532694 | NSD1 | c.5426A= (p.Lys1809=) c.941A= (p.Lys314=) n.5882A= n.715A= c.5990A= (p.Lys1997=) n.5696A= c.6299A= (p.Lys2100=) c.5492A= (p.Lys1831=) n.441A= c.1793A= (p.Lys598=) c.5879A= (p.Lys1960=) c.5243A= (p.Lys1748=) c.2033A= (p.Lys678=) | |
5 | g.177291994A>C | CA362320213 | NSD1 | c.5426A>C (p.Lys1809Thr) c.941A>C (p.Lys314Thr) n.5882A>C n.715A>C c.5990A>C (p.Lys1997Thr) n.5696A>C c.6299A>C (p.Lys2100Thr) c.5492A>C (p.Lys1831Thr) n.441A>C c.1793A>C (p.Lys598Thr) c.5879A>C (p.Lys1960Thr) c.5243A>C (p.Lys1748Thr) c.2033A>C (p.Lys678Thr) | |
5 | g.177291994A>G | CA132861263 | NSD1 | c.5426A>G (p.Lys1809Arg) c.941A>G (p.Lys314Arg) n.5882A>G n.715A>G c.5990A>G (p.Lys1997Arg) n.5696A>G c.6299A>G (p.Lys2100Arg) c.5492A>G (p.Lys1831Arg) n.441A>G c.1793A>G (p.Lys598Arg) c.5879A>G (p.Lys1960Arg) c.5243A>G (p.Lys1748Arg) c.2033A>G (p.Lys678Arg) | dbSNP gnomAD v4 |
5 | g.177291994A>T | CA362320214 | NSD1 | c.5426A>T (p.Lys1809Met) c.941A>T (p.Lys314Met) n.5882A>T n.715A>T c.5990A>T (p.Lys1997Met) n.5696A>T c.6299A>T (p.Lys2100Met) c.5492A>T (p.Lys1831Met) n.441A>T c.1793A>T (p.Lys598Met) c.5879A>T (p.Lys1960Met) c.5243A>T (p.Lys1748Met) c.2033A>T (p.Lys678Met) | |
5 | g.177291995G>A | CA447740688 | NSD1 | c.5427G>A (p.Lys1809=) c.942G>A (p.Lys314=) n.5883G>A n.716G>A c.5991G>A (p.Lys1997=) n.5697G>A c.6300G>A (p.Lys2100=) c.5493G>A (p.Lys1831=) n.442G>A c.1794G>A (p.Lys598=) c.5880G>A (p.Lys1960=) c.5244G>A (p.Lys1748=) c.2034G>A (p.Lys678=) | dbSNP gnomAD v4 |
5 | g.177291995G>C | CA362320216 | NSD1 | c.5427G>C (p.Lys1809Asn) c.942G>C (p.Lys314Asn) n.5883G>C n.716G>C c.5991G>C (p.Lys1997Asn) n.5697G>C c.6300G>C (p.Lys2100Asn) c.5493G>C (p.Lys1831Asn) n.442G>C c.1794G>C (p.Lys598Asn) c.5880G>C (p.Lys1960Asn) c.5244G>C (p.Lys1748Asn) c.2034G>C (p.Lys678Asn) | |
5 | g.177291995G= | CA1603532697 | NSD1 | c.5427G= (p.Lys1809=) c.942G= (p.Lys314=) n.5883G= n.716G= c.5991G= (p.Lys1997=) n.5697G= c.6300G= (p.Lys2100=) c.5493G= (p.Lys1831=) n.442G= c.1794G= (p.Lys598=) c.5880G= (p.Lys1960=) c.5244G= (p.Lys1748=) c.2034G= (p.Lys678=) | |
5 | g.177291995G>T | CA362320217 | NSD1 | c.5427G>T (p.Lys1809Asn) c.942G>T (p.Lys314Asn) n.5883G>T n.716G>T c.5991G>T (p.Lys1997Asn) n.5697G>T c.6300G>T (p.Lys2100Asn) c.5493G>T (p.Lys1831Asn) n.442G>T c.1794G>T (p.Lys598Asn) c.5880G>T (p.Lys1960Asn) c.5244G>T (p.Lys1748Asn) c.2034G>T (p.Lys678Asn) | |
5 | g.177291996A>C | CA362320224 | NSD1 | c.5428A>C (p.Lys1810Gln) c.943A>C (p.Lys315Gln) n.5884A>C n.717A>C c.5992A>C (p.Lys1998Gln) n.5698A>C c.6301A>C (p.Lys2101Gln) c.5494A>C (p.Lys1832Gln) n.443A>C c.1795A>C (p.Lys599Gln) c.5881A>C (p.Lys1961Gln) c.5245A>C (p.Lys1749Gln) c.2035A>C (p.Lys679Gln) | |
5 | g.177291996A>G | CA362320221 | NSD1 | c.5428A>G (p.Lys1810Glu) c.943A>G (p.Lys315Glu) n.5884A>G n.717A>G c.5992A>G (p.Lys1998Glu) n.5698A>G c.6301A>G (p.Lys2101Glu) c.5494A>G (p.Lys1832Glu) n.443A>G c.1795A>G (p.Lys599Glu) c.5881A>G (p.Lys1961Glu) c.5245A>G (p.Lys1749Glu) c.2035A>G (p.Lys679Glu) | |
5 | g.177291996A>T | CA362320220 | NSD1 | c.5428A>T (p.Lys1810Ter) c.943A>T (p.Lys315Ter) n.5884A>T n.717A>T c.5992A>T (p.Lys1998Ter) n.5698A>T c.6301A>T (p.Lys2101Ter) c.5494A>T (p.Lys1832Ter) n.443A>T c.1795A>T (p.Lys599Ter) c.5881A>T (p.Lys1961Ter) c.5245A>T (p.Lys1749Ter) c.2035A>T (p.Lys679Ter) | |
5 | g.177291997del | CA658820944 | NSD1 | c.5429del (p.Lys1810ArgfsTer?) c.944del (p.Lys315ArgfsTer?) n.5885del n.718del c.5993del (p.Lys1998ArgfsTer?) n.5699del c.6302del (p.Lys2101ArgfsTer?) c.5495del (p.Lys1832ArgfsTer?) n.444del c.1796del (p.Lys599ArgfsTer?) c.5882del (p.Lys1961ArgfsTer?) c.5246del (p.Lys1749ArgfsTer?) c.2036del (p.Lys679ArgfsTer?) | |
5 | g.177291997A>C | CA362320228 | NSD1 | c.5429A>C (p.Lys1810Thr) c.944A>C (p.Lys315Thr) n.5885A>C n.718A>C c.5993A>C (p.Lys1998Thr) n.5699A>C c.6302A>C (p.Lys2101Thr) c.5495A>C (p.Lys1832Thr) n.444A>C c.1796A>C (p.Lys599Thr) c.5882A>C (p.Lys1961Thr) c.5246A>C (p.Lys1749Thr) c.2036A>C (p.Lys679Thr) | |
5 | g.177291997A>G | CA362320230 | NSD1 | c.5429A>G (p.Lys1810Arg) c.944A>G (p.Lys315Arg) n.5885A>G n.718A>G c.5993A>G (p.Lys1998Arg) n.5699A>G c.6302A>G (p.Lys2101Arg) c.5495A>G (p.Lys1832Arg) n.444A>G c.1796A>G (p.Lys599Arg) c.5882A>G (p.Lys1961Arg) c.5246A>G (p.Lys1749Arg) c.2036A>G (p.Lys679Arg) | gnomAD v4 |
5 | g.177291997A>T | CA362320232 | NSD1 | c.5429A>T (p.Lys1810Met) c.944A>T (p.Lys315Met) n.5885A>T n.718A>T c.5993A>T (p.Lys1998Met) n.5699A>T c.6302A>T (p.Lys2101Met) c.5495A>T (p.Lys1832Met) n.444A>T c.1796A>T (p.Lys599Met) c.5882A>T (p.Lys1961Met) c.5246A>T (p.Lys1749Met) c.2036A>T (p.Lys679Met) | |
5 | g.177291998G>A | CA447740691 | NSD1 | c.5430G>A (p.Lys1810=) c.945G>A (p.Lys315=) n.5886G>A n.719G>A c.5994G>A (p.Lys1998=) n.5700G>A c.6303G>A (p.Lys2101=) c.5496G>A (p.Lys1832=) n.445G>A c.1797G>A (p.Lys599=) c.5883G>A (p.Lys1961=) c.5247G>A (p.Lys1749=) c.2037G>A (p.Lys679=) | |
5 | g.177291998G>C | CA362320235 | NSD1 | c.5430G>C (p.Lys1810Asn) c.945G>C (p.Lys315Asn) n.5886G>C n.719G>C c.5994G>C (p.Lys1998Asn) n.5700G>C c.6303G>C (p.Lys2101Asn) c.5496G>C (p.Lys1832Asn) n.445G>C c.1797G>C (p.Lys599Asn) c.5883G>C (p.Lys1961Asn) c.5247G>C (p.Lys1749Asn) c.2037G>C (p.Lys679Asn) | |
5 | g.177291998G>T | CA362320238 | NSD1 | c.5430G>T (p.Lys1810Asn) c.945G>T (p.Lys315Asn) n.5886G>T n.719G>T c.5994G>T (p.Lys1998Asn) n.5700G>T c.6303G>T (p.Lys2101Asn) c.5496G>T (p.Lys1832Asn) n.445G>T c.1797G>T (p.Lys599Asn) c.5883G>T (p.Lys1961Asn) c.5247G>T (p.Lys1749Asn) c.2037G>T (p.Lys679Asn) | gnomAD v4 |
5 | g.177291998_177292001del | CA2837994779 | NSD1 | c.5430_5433del (p.Lys1810AsnfsTer?) c.945_948del (p.Lys315AsnfsTer?) n.5886_5889del n.719_722del c.5994_5997del (p.Lys1998AsnfsTer?) n.5700_5703del c.6303_6306del (p.Lys2101AsnfsTer?) c.5496_5499del (p.Lys1832AsnfsTer?) n.445_448del c.1797_1800del (p.Lys599AsnfsTer?) c.5883_5886del (p.Lys1961AsnfsTer?) c.5247_5250del (p.Lys1749AsnfsTer?) c.2037_2040del (p.Lys679AsnfsTer?) | |
5 | g.177291999A>C | CA362320240 | NSD1 | c.5431A>C (p.Lys1811Gln) c.946A>C (p.Lys316Gln) n.5887A>C n.720A>C c.5995A>C (p.Lys1999Gln) n.5701A>C c.6304A>C (p.Lys2102Gln) c.5497A>C (p.Lys1833Gln) n.446A>C c.1798A>C (p.Lys600Gln) c.5884A>C (p.Lys1962Gln) c.5248A>C (p.Lys1750Gln) c.2038A>C (p.Lys680Gln) | gnomAD v4 |
5 | g.177291999A>G | CA362320242 | NSD1 | c.5431A>G (p.Lys1811Glu) c.946A>G (p.Lys316Glu) n.5887A>G n.720A>G c.5995A>G (p.Lys1999Glu) n.5701A>G c.6304A>G (p.Lys2102Glu) c.5497A>G (p.Lys1833Glu) n.446A>G c.1798A>G (p.Lys600Glu) c.5884A>G (p.Lys1962Glu) c.5248A>G (p.Lys1750Glu) c.2038A>G (p.Lys680Glu) | |
5 | g.177291999A>T | CA362320245 | NSD1 | c.5431A>T (p.Lys1811Ter) c.946A>T (p.Lys316Ter) n.5887A>T n.720A>T c.5995A>T (p.Lys1999Ter) n.5701A>T c.6304A>T (p.Lys2102Ter) c.5497A>T (p.Lys1833Ter) n.446A>T c.1798A>T (p.Lys600Ter) c.5884A>T (p.Lys1962Ter) c.5248A>T (p.Lys1750Ter) c.2038A>T (p.Lys680Ter) | |
5 | g.177292000A= | CA1603532701 | NSD1 | c.5432A= (p.Lys1811=) c.947A= (p.Lys316=) n.5888A= n.721A= c.5996A= (p.Lys1999=) n.5702A= c.6305A= (p.Lys2102=) c.5498A= (p.Lys1833=) n.447A= c.1799A= (p.Lys600=) c.5885A= (p.Lys1962=) c.5249A= (p.Lys1750=) c.2039A= (p.Lys680=) | |
5 | g.177292000A>C | CA362320249 | NSD1 | c.5432A>C (p.Lys1811Thr) c.947A>C (p.Lys316Thr) n.5888A>C n.721A>C c.5996A>C (p.Lys1999Thr) n.5702A>C c.6305A>C (p.Lys2102Thr) c.5498A>C (p.Lys1833Thr) n.447A>C c.1799A>C (p.Lys600Thr) c.5885A>C (p.Lys1962Thr) c.5249A>C (p.Lys1750Thr) c.2039A>C (p.Lys680Thr) | |
5 | g.177292000A>G | CA362320251 | NSD1 | c.5432A>G (p.Lys1811Arg) c.947A>G (p.Lys316Arg) n.5888A>G n.721A>G c.5996A>G (p.Lys1999Arg) n.5702A>G c.6305A>G (p.Lys2102Arg) c.5498A>G (p.Lys1833Arg) n.447A>G c.1799A>G (p.Lys600Arg) c.5885A>G (p.Lys1962Arg) c.5249A>G (p.Lys1750Arg) c.2039A>G (p.Lys680Arg) | |
5 | g.177292000A>T | CA362320253 | NSD1 | c.5432A>T (p.Lys1811Met) c.947A>T (p.Lys316Met) n.5888A>T n.721A>T c.5996A>T (p.Lys1999Met) n.5702A>T c.6305A>T (p.Lys2102Met) c.5498A>T (p.Lys1833Met) n.447A>T c.1799A>T (p.Lys600Met) c.5885A>T (p.Lys1962Met) c.5249A>T (p.Lys1750Met) c.2039A>T (p.Lys680Met) | |
5 | g.177292001G>A | CA447740693 | NSD1 | c.5433G>A (p.Lys1811=) c.948G>A (p.Lys316=) n.5889G>A n.722G>A c.5997G>A (p.Lys1999=) n.5703G>A c.6306G>A (p.Lys2102=) c.5499G>A (p.Lys1833=) n.448G>A c.1800G>A (p.Lys600=) c.5886G>A (p.Lys1962=) c.5250G>A (p.Lys1750=) c.2040G>A (p.Lys680=) | |
5 | g.177292001G>C | CA362320256 | NSD1 | c.5433G>C (p.Lys1811Asn) c.948G>C (p.Lys316Asn) n.5889G>C n.722G>C c.5997G>C (p.Lys1999Asn) n.5703G>C c.6306G>C (p.Lys2102Asn) c.5499G>C (p.Lys1833Asn) n.448G>C c.1800G>C (p.Lys600Asn) c.5886G>C (p.Lys1962Asn) c.5250G>C (p.Lys1750Asn) c.2040G>C (p.Lys680Asn) | |
5 | g.177292001G>T | CA362320258 | NSD1 | c.5433G>T (p.Lys1811Asn) c.948G>T (p.Lys316Asn) n.5889G>T n.722G>T c.5997G>T (p.Lys1999Asn) n.5703G>T c.6306G>T (p.Lys2102Asn) c.5499G>T (p.Lys1833Asn) n.448G>T c.1800G>T (p.Lys600Asn) c.5886G>T (p.Lys1962Asn) c.5250G>T (p.Lys1750Asn) c.2040G>T (p.Lys680Asn) | |
5 | g.177292002_177292003insTGTGC | CA319703 | NSD1 | c.5434_5435insTGTGC (p.Gln1812LeufsTer?) c.949_950insTGTGC (p.Gln317LeufsTer?) n.5890_5891insTGTGC n.723_724insTGTGC c.5998_5999insTGTGC (p.Gln2000LeufsTer?) n.5704_5705insTGTGC c.6307_6308insTGTGC (p.Gln2103LeufsTer?) c.5500_5501insTGTGC (p.Gln1834LeufsTer?) n.449_450insTGTGC c.1801_1802insTGTGC (p.Gln601LeufsTer?) c.5887_5888insTGTGC (p.Gln1963LeufsTer?) c.5251_5252insTGTGC (p.Gln1751LeufsTer?) c.2041_2042insTGTGC (p.Gln681LeufsTer?) | ClinVar dbSNP |
5 | g.177292002C>A | CA362320262 | NSD1 | c.5434C>A (p.Gln1812Lys) c.949C>A (p.Gln317Lys) n.5890C>A n.723C>A c.5998C>A (p.Gln2000Lys) n.5704C>A c.6307C>A (p.Gln2103Lys) c.5500C>A (p.Gln1834Lys) n.449C>A c.1801C>A (p.Gln601Lys) c.5887C>A (p.Gln1963Lys) c.5251C>A (p.Gln1751Lys) c.2041C>A (p.Gln681Lys) | dbSNP |
5 | g.177292002C= | CA1603532714 | NSD1 | c.5434C= (p.Gln1812=) c.949C= (p.Gln317=) n.5890C= n.723C= c.5998C= (p.Gln2000=) n.5704C= c.6307C= (p.Gln2103=) c.5500C= (p.Gln1834=) n.449C= c.1801C= (p.Gln601=) c.5887C= (p.Gln1963=) c.5251C= (p.Gln1751=) c.2041C= (p.Gln681=) | |
5 | g.177292002C>G | CA362320264 | NSD1 | c.5434C>G (p.Gln1812Glu) c.949C>G (p.Gln317Glu) n.5890C>G n.723C>G c.5998C>G (p.Gln2000Glu) n.5704C>G c.6307C>G (p.Gln2103Glu) c.5500C>G (p.Gln1834Glu) n.449C>G c.1801C>G (p.Gln601Glu) c.5887C>G (p.Gln1963Glu) c.5251C>G (p.Gln1751Glu) c.2041C>G (p.Gln681Glu) | |
5 | g.177292002C>T | CA295052 | NSD1 | c.5434C>T (p.Gln1812Ter) c.949C>T (p.Gln317Ter) n.5890C>T n.723C>T c.5998C>T (p.Gln2000Ter) n.5704C>T c.6307C>T (p.Gln2103Ter) c.5500C>T (p.Gln1834Ter) n.449C>T c.1801C>T (p.Gln601Ter) c.5887C>T (p.Gln1963Ter) c.5251C>T (p.Gln1751Ter) c.2041C>T (p.Gln681Ter) | ClinVar dbSNP |
5 | g.177292003A>C | CA362320268 | NSD1 | c.5435A>C (p.Gln1812Pro) c.950A>C (p.Gln317Pro) n.5891A>C n.724A>C c.5999A>C (p.Gln2000Pro) n.5705A>C c.6308A>C (p.Gln2103Pro) c.5501A>C (p.Gln1834Pro) n.450A>C c.1802A>C (p.Gln601Pro) c.5888A>C (p.Gln1963Pro) c.5252A>C (p.Gln1751Pro) c.2042A>C (p.Gln681Pro) | gnomAD v4 |
5 | g.177292003A>G | CA362320271 | NSD1 | c.5435A>G (p.Gln1812Arg) c.950A>G (p.Gln317Arg) n.5891A>G n.724A>G c.5999A>G (p.Gln2000Arg) n.5705A>G c.6308A>G (p.Gln2103Arg) c.5501A>G (p.Gln1834Arg) n.450A>G c.1802A>G (p.Gln601Arg) c.5888A>G (p.Gln1963Arg) c.5252A>G (p.Gln1751Arg) c.2042A>G (p.Gln681Arg) | |
5 | g.177292003A>T | CA362320273 | NSD1 | c.5435A>T (p.Gln1812Leu) c.950A>T (p.Gln317Leu) n.5891A>T n.724A>T c.5999A>T (p.Gln2000Leu) n.5705A>T c.6308A>T (p.Gln2103Leu) c.5501A>T (p.Gln1834Leu) n.450A>T c.1802A>T (p.Gln601Leu) c.5888A>T (p.Gln1963Leu) c.5252A>T (p.Gln1751Leu) c.2042A>T (p.Gln681Leu) | |
5 | g.177292004dup | CA2695205735 | NSD1 | c.5436dup (p.Gln1813ThrfsTer9) c.951dup (p.Gln318ThrfsTer9) n.5892dup n.725dup c.6000dup (p.Gln2001ThrfsTer9) n.5706dup c.6309dup (p.Gln2104ThrfsTer9) c.5502dup (p.Gln1835ThrfsTer9) n.451dup c.1803dup (p.Gln602ThrfsTer9) c.5889dup (p.Gln1964ThrfsTer9) c.5253dup (p.Gln1752ThrfsTer9) c.2043dup (p.Gln682ThrfsTer9) | |
5 | g.177292004A>C | CA362320276 | NSD1 | c.5436A>C (p.Gln1812His) c.951A>C (p.Gln317His) n.5892A>C n.725A>C c.6000A>C (p.Gln2000His) n.5706A>C c.6309A>C (p.Gln2103His) c.5502A>C (p.Gln1834His) n.451A>C c.1803A>C (p.Gln601His) c.5889A>C (p.Gln1963His) c.5253A>C (p.Gln1751His) c.2043A>C (p.Gln681His) | |
5 | g.177292004A>G | CA447740697 | NSD1 | c.5436A>G (p.Gln1812=) c.951A>G (p.Gln317=) n.5892A>G n.725A>G c.6000A>G (p.Gln2000=) n.5706A>G c.6309A>G (p.Gln2103=) c.5502A>G (p.Gln1834=) n.451A>G c.1803A>G (p.Gln601=) c.5889A>G (p.Gln1963=) c.5253A>G (p.Gln1751=) c.2043A>G (p.Gln681=) | |
5 | g.177292004A>T | CA362320277 | NSD1 | c.5436A>T (p.Gln1812His) c.951A>T (p.Gln317His) n.5892A>T n.725A>T c.6000A>T (p.Gln2000His) n.5706A>T c.6309A>T (p.Gln2103His) c.5502A>T (p.Gln1834His) n.451A>T c.1803A>T (p.Gln601His) c.5889A>T (p.Gln1963His) c.5253A>T (p.Gln1751His) c.2043A>T (p.Gln681His) | |
5 | g.177292005C>A | CA362320282 | NSD1 | c.5437C>A (p.Gln1813Lys) c.952C>A (p.Gln318Lys) n.5893C>A n.726C>A c.6001C>A (p.Gln2001Lys) n.5707C>A c.6310C>A (p.Gln2104Lys) c.5503C>A (p.Gln1835Lys) n.452C>A c.1804C>A (p.Gln602Lys) c.5890C>A (p.Gln1964Lys) c.5254C>A (p.Gln1752Lys) c.2044C>A (p.Gln682Lys) | |
5 | g.177292005C= | CA1603532720 | NSD1 | c.5437C= (p.Gln1813=) c.952C= (p.Gln318=) n.5893C= n.726C= c.6001C= (p.Gln2001=) n.5707C= c.6310C= (p.Gln2104=) c.5503C= (p.Gln1835=) n.452C= c.1804C= (p.Gln602=) c.5890C= (p.Gln1964=) c.5254C= (p.Gln1752=) c.2044C= (p.Gln682=) | |
5 | g.177292005C>G | CA362320285 | NSD1 | c.5437C>G (p.Gln1813Glu) c.952C>G (p.Gln318Glu) n.5893C>G n.726C>G c.6001C>G (p.Gln2001Glu) n.5707C>G c.6310C>G (p.Gln2104Glu) c.5503C>G (p.Gln1835Glu) n.452C>G c.1804C>G (p.Gln602Glu) c.5890C>G (p.Gln1964Glu) c.5254C>G (p.Gln1752Glu) c.2044C>G (p.Gln682Glu) | dbSNP |
5 | g.177292005C>T | CA295055 | NSD1 | c.5437C>T (p.Gln1813Ter) c.952C>T (p.Gln318Ter) n.5893C>T n.726C>T c.6001C>T (p.Gln2001Ter) n.5707C>T c.6310C>T (p.Gln2104Ter) c.5503C>T (p.Gln1835Ter) n.452C>T c.1804C>T (p.Gln602Ter) c.5890C>T (p.Gln1964Ter) c.5254C>T (p.Gln1752Ter) c.2044C>T (p.Gln682Ter) | ClinVar dbSNP |
5 | g.177292005_177292007delinsCAG | CA1603532724 | NSD1 | c.5437_5439delinsCAG (p.Gln1813=) c.952_954delinsCAG (p.Gln318=) n.5893_5895delinsCAG n.726_728delinsCAG c.6001_6003delinsCAG (p.Gln2001=) n.5707_5709delinsCAG c.6310_6312delinsCAG (p.Gln2104=) c.5503_5505delinsCAG (p.Gln1835=) n.452_454delinsCAG c.1804_1806delinsCAG (p.Gln602=) c.5890_5892delinsCAG (p.Gln1964=) c.5254_5256delinsCAG (p.Gln1752=) c.2044_2046delinsCAG (p.Gln682=) | |
5 | g.177292006A>C | CA362320289 | NSD1 | c.5438A>C (p.Gln1813Pro) c.953A>C (p.Gln318Pro) n.5894A>C n.727A>C c.6002A>C (p.Gln2001Pro) n.5708A>C c.6311A>C (p.Gln2104Pro) c.5504A>C (p.Gln1835Pro) n.453A>C c.1805A>C (p.Gln602Pro) c.5891A>C (p.Gln1964Pro) c.5255A>C (p.Gln1752Pro) c.2045A>C (p.Gln682Pro) | |
5 | g.177292006A>G | CA362320291 | NSD1 | c.5438A>G (p.Gln1813Arg) c.953A>G (p.Gln318Arg) n.5894A>G n.727A>G c.6002A>G (p.Gln2001Arg) n.5708A>G c.6311A>G (p.Gln2104Arg) c.5504A>G (p.Gln1835Arg) n.453A>G c.1805A>G (p.Gln602Arg) c.5891A>G (p.Gln1964Arg) c.5255A>G (p.Gln1752Arg) c.2045A>G (p.Gln682Arg) | |
5 | g.177292006A>T | CA362320293 | NSD1 | c.5438A>T (p.Gln1813Leu) c.953A>T (p.Gln318Leu) n.5894A>T n.727A>T c.6002A>T (p.Gln2001Leu) n.5708A>T c.6311A>T (p.Gln2104Leu) c.5504A>T (p.Gln1835Leu) n.453A>T c.1805A>T (p.Gln602Leu) c.5891A>T (p.Gln1964Leu) c.5255A>T (p.Gln1752Leu) c.2045A>T (p.Gln682Leu) | |
5 | g.177292006_177292007del | CA295058 | NSD1 | c.5438_5439del (p.Gln1813ArgfsTer8) c.953_954del (p.Gln318ArgfsTer8) n.5894_5895del n.727_728del c.6002_6003del (p.Gln2001ArgfsTer8) n.5708_5709del c.6311_6312del (p.Gln2104ArgfsTer8) c.5504_5505del (p.Gln1835ArgfsTer8) n.453_454del c.1805_1806del (p.Gln602ArgfsTer8) c.5891_5892del (p.Gln1964ArgfsTer8) c.5255_5256del (p.Gln1752ArgfsTer8) c.2045_2046del (p.Gln682ArgfsTer8) | ClinVar dbSNP |
5 | g.177292007G>A | CA447740699 | NSD1 | c.5439G>A (p.Gln1813=) c.954G>A (p.Gln318=) n.5895G>A n.728G>A c.6003G>A (p.Gln2001=) n.5709G>A c.6312G>A (p.Gln2104=) c.5505G>A (p.Gln1835=) n.454G>A c.1806G>A (p.Gln602=) c.5892G>A (p.Gln1964=) c.5256G>A (p.Gln1752=) c.2046G>A (p.Gln682=) | dbSNP |
5 | g.177292007G>C | CA362320297 | NSD1 | c.5439G>C (p.Gln1813His) c.954G>C (p.Gln318His) n.5895G>C n.728G>C c.6003G>C (p.Gln2001His) n.5709G>C c.6312G>C (p.Gln2104His) c.5505G>C (p.Gln1835His) n.454G>C c.1806G>C (p.Gln602His) c.5892G>C (p.Gln1964His) c.5256G>C (p.Gln1752His) c.2046G>C (p.Gln682His) | |
5 | g.177292007G>T | CA362320299 | NSD1 | c.5439G>T (p.Gln1813His) c.954G>T (p.Gln318His) n.5895G>T n.728G>T c.6003G>T (p.Gln2001His) n.5709G>T c.6312G>T (p.Gln2104His) c.5505G>T (p.Gln1835His) n.454G>T c.1806G>T (p.Gln602His) c.5892G>T (p.Gln1964His) c.5256G>T (p.Gln1752His) c.2046G>T (p.Gln682His) | dbSNP |
5 | g.177292008_177292009del | CA2739289827 | NSD1 | c.5440_5441del (p.Gly1814LysfsTer7) c.955_956del (p.Gly319LysfsTer7) n.5896_5897del n.729_730del c.6004_6005del (p.Gly2002LysfsTer7) n.5710_5711del c.6313_6314del (p.Gly2105LysfsTer7) c.5506_5507del (p.Gly1836LysfsTer7) n.455_456del c.1807_1808del (p.Gly603LysfsTer7) c.5893_5894del (p.Gly1965LysfsTer7) c.5257_5258del (p.Gly1753LysfsTer7) c.2047_2048del (p.Gly683LysfsTer7) | |
5 | g.177292008G>A | CA362320300 | NSD1 | c.5440G>A (p.Gly1814Arg) c.955G>A (p.Gly319Arg) n.5896G>A n.729G>A c.6004G>A (p.Gly2002Arg) n.5710G>A c.6313G>A (p.Gly2105Arg) c.5506G>A (p.Gly1836Arg) n.455G>A c.1807G>A (p.Gly603Arg) c.5893G>A (p.Gly1965Arg) c.5257G>A (p.Gly1753Arg) c.2047G>A (p.Gly683Arg) | dbSNP |
5 | g.177292008G>C | CA362320304 | NSD1 | c.5440G>C (p.Gly1814Arg) c.955G>C (p.Gly319Arg) n.5896G>C n.729G>C c.6004G>C (p.Gly2002Arg) n.5710G>C c.6313G>C (p.Gly2105Arg) c.5506G>C (p.Gly1836Arg) n.455G>C c.1807G>C (p.Gly603Arg) c.5893G>C (p.Gly1965Arg) c.5257G>C (p.Gly1753Arg) c.2047G>C (p.Gly683Arg) | |
5 | g.177292008G>T | CA362320301 | NSD1 | c.5440G>T (p.Gly1814Ter) c.955G>T (p.Gly319Ter) n.5896G>T n.729G>T c.6004G>T (p.Gly2002Ter) n.5710G>T c.6313G>T (p.Gly2105Ter) c.5506G>T (p.Gly1836Ter) n.455G>T c.1807G>T (p.Gly603Ter) c.5893G>T (p.Gly1965Ter) c.5257G>T (p.Gly1753Ter) c.2047G>T (p.Gly683Ter) | |
5 | g.177292009G>A | CA362320307 | NSD1 | c.5441G>A (p.Gly1814Glu) c.956G>A (p.Gly319Glu) n.5897G>A n.730G>A c.6005G>A (p.Gly2002Glu) n.5711G>A c.6314G>A (p.Gly2105Glu) c.5507G>A (p.Gly1836Glu) n.456G>A c.1808G>A (p.Gly603Glu) c.5894G>A (p.Gly1965Glu) c.5258G>A (p.Gly1753Glu) c.2048G>A (p.Gly683Glu) | ClinVar dbSNP gnomAD v4 |
5 | g.177292009G>C | CA362320309 | NSD1 | c.5441G>C (p.Gly1814Ala) c.956G>C (p.Gly319Ala) n.5897G>C n.730G>C c.6005G>C (p.Gly2002Ala) n.5711G>C c.6314G>C (p.Gly2105Ala) c.5507G>C (p.Gly1836Ala) n.456G>C c.1808G>C (p.Gly603Ala) c.5894G>C (p.Gly1965Ala) c.5258G>C (p.Gly1753Ala) c.2048G>C (p.Gly683Ala) | |
5 | g.177292009G= | CA1603532741 | NSD1 | c.5441G= (p.Gly1814=) c.956G= (p.Gly319=) n.5897G= n.730G= c.6005G= (p.Gly2002=) n.5711G= c.6314G= (p.Gly2105=) c.5507G= (p.Gly1836=) n.456G= c.1808G= (p.Gly603=) c.5894G= (p.Gly1965=) c.5258G= (p.Gly1753=) c.2048G= (p.Gly683=) | |
5 | g.177292009G>T | CA362320311 | NSD1 | c.5441G>T (p.Gly1814Val) c.956G>T (p.Gly319Val) n.5897G>T n.730G>T c.6005G>T (p.Gly2002Val) n.5711G>T c.6314G>T (p.Gly2105Val) c.5507G>T (p.Gly1836Val) n.456G>T c.1808G>T (p.Gly603Val) c.5894G>T (p.Gly1965Val) c.5258G>T (p.Gly1753Val) c.2048G>T (p.Gly683Val) | |
5 | g.177292009_177292010delinsGA | CA1603532740 | NSD1 | c.5441_5442delinsGA (p.Gly1814=) c.956_957delinsGA (p.Gly319=) n.5897_5898delinsGA n.730_731delinsGA c.6005_6006delinsGA (p.Gly2002=) n.5711_5712delinsGA c.6314_6315delinsGA (p.Gly2105=) c.5507_5508delinsGA (p.Gly1836=) n.456_457delinsGA c.1808_1809delinsGA (p.Gly603=) c.5894_5895delinsGA (p.Gly1965=) c.5258_5259delinsGA (p.Gly1753=) c.2048_2049delinsGA (p.Gly683=) | |
5 | g.177292010A>C | CA447740701 | NSD1 | c.5442A>C (p.Gly1814=) c.957A>C (p.Gly319=) n.5898A>C n.731A>C c.6006A>C (p.Gly2002=) n.5712A>C c.6315A>C (p.Gly2105=) c.5508A>C (p.Gly1836=) n.457A>C c.1809A>C (p.Gly603=) c.5895A>C (p.Gly1965=) c.5259A>C (p.Gly1753=) c.2049A>C (p.Gly683=) | |
5 | g.177292010A>G | CA447740702 | NSD1 | c.5442A>G (p.Gly1814=) c.957A>G (p.Gly319=) n.5898A>G n.731A>G c.6006A>G (p.Gly2002=) n.5712A>G c.6315A>G (p.Gly2105=) c.5508A>G (p.Gly1836=) n.457A>G c.1809A>G (p.Gly603=) c.5895A>G (p.Gly1965=) c.5259A>G (p.Gly1753=) c.2049A>G (p.Gly683=) | gnomAD v4 |
5 | g.177292010A>T | CA447740703 | NSD1 | c.5442A>T (p.Gly1814=) c.957A>T (p.Gly319=) n.5898A>T n.731A>T c.6006A>T (p.Gly2002=) n.5712A>T c.6315A>T (p.Gly2105=) c.5508A>T (p.Gly1836=) n.457A>T c.1809A>T (p.Gly603=) c.5895A>T (p.Gly1965=) c.5259A>T (p.Gly1753=) c.2049A>T (p.Gly683=) | |
5 | g.177292012del | CA891842457 | NSD1 | c.5444del (p.Lys1815SerfsTer?) c.959del (p.Lys320SerfsTer?) n.5900del n.733del c.6008del (p.Lys2003SerfsTer?) n.5714del c.6317del (p.Lys2106SerfsTer?) c.5510del (p.Lys1837SerfsTer?) n.459del c.1811del (p.Lys604SerfsTer?) c.5897del (p.Lys1966SerfsTer?) c.5261del (p.Lys1754SerfsTer?) c.2051del (p.Lys684SerfsTer?) | ClinVar dbSNP |
5 | g.177292011A>C | CA362320315 | NSD1 | c.5443A>C (p.Lys1815Gln) c.958A>C (p.Lys320Gln) n.5899A>C n.732A>C c.6007A>C (p.Lys2003Gln) n.5713A>C c.6316A>C (p.Lys2106Gln) c.5509A>C (p.Lys1837Gln) n.458A>C c.1810A>C (p.Lys604Gln) c.5896A>C (p.Lys1966Gln) c.5260A>C (p.Lys1754Gln) c.2050A>C (p.Lys684Gln) | |
5 | g.177292011A>G | CA362320317 | NSD1 | c.5443A>G (p.Lys1815Glu) c.958A>G (p.Lys320Glu) n.5899A>G n.732A>G c.6007A>G (p.Lys2003Glu) n.5713A>G c.6316A>G (p.Lys2106Glu) c.5509A>G (p.Lys1837Glu) n.458A>G c.1810A>G (p.Lys604Glu) c.5896A>G (p.Lys1966Glu) c.5260A>G (p.Lys1754Glu) c.2050A>G (p.Lys684Glu) | |
5 | g.177292011A>T | CA362320321 | NSD1 | c.5443A>T (p.Lys1815Ter) c.958A>T (p.Lys320Ter) n.5899A>T n.732A>T c.6007A>T (p.Lys2003Ter) n.5713A>T c.6316A>T (p.Lys2106Ter) c.5509A>T (p.Lys1837Ter) n.458A>T c.1810A>T (p.Lys604Ter) c.5896A>T (p.Lys1966Ter) c.5260A>T (p.Lys1754Ter) c.2050A>T (p.Lys684Ter) | |
5 | g.177292012A= | CA1603532754 | NSD1 | c.5444A= (p.Lys1815=) c.959A= (p.Lys320=) n.5900A= n.733A= c.6008A= (p.Lys2003=) n.5714A= c.6317A= (p.Lys2106=) c.5510A= (p.Lys1837=) n.459A= c.1811A= (p.Lys604=) c.5897A= (p.Lys1966=) c.5261A= (p.Lys1754=) c.2051A= (p.Lys684=) | |
5 | g.177292012A>C | CA362320329 | NSD1 | c.5444A>C (p.Lys1815Thr) c.959A>C (p.Lys320Thr) n.5900A>C n.733A>C c.6008A>C (p.Lys2003Thr) n.5714A>C c.6317A>C (p.Lys2106Thr) c.5510A>C (p.Lys1837Thr) n.459A>C c.1811A>C (p.Lys604Thr) c.5897A>C (p.Lys1966Thr) c.5261A>C (p.Lys1754Thr) c.2051A>C (p.Lys684Thr) | |
5 | g.177292012A>G | CA362320324 | NSD1 | c.5444A>G (p.Lys1815Arg) c.959A>G (p.Lys320Arg) n.5900A>G n.733A>G c.6008A>G (p.Lys2003Arg) n.5714A>G c.6317A>G (p.Lys2106Arg) c.5510A>G (p.Lys1837Arg) n.459A>G c.1811A>G (p.Lys604Arg) c.5897A>G (p.Lys1966Arg) c.5261A>G (p.Lys1754Arg) c.2051A>G (p.Lys684Arg) | |
5 | g.177292012A>T | CA3577977 | NSD1 | c.5444A>T (p.Lys1815Met) c.959A>T (p.Lys320Met) n.5900A>T n.733A>T c.6008A>T (p.Lys2003Met) n.5714A>T c.6317A>T (p.Lys2106Met) c.5510A>T (p.Lys1837Met) n.459A>T c.1811A>T (p.Lys604Met) c.5897A>T (p.Lys1966Met) c.5261A>T (p.Lys1754Met) c.2051A>T (p.Lys684Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
5 | g.177292013G>A | CA447740705 | NSD1 | c.5445G>A (p.Lys1815=) c.960G>A (p.Lys320=) n.5901G>A n.734G>A c.6009G>A (p.Lys2003=) n.5715G>A c.6318G>A (p.Lys2106=) c.5511G>A (p.Lys1837=) n.460G>A c.1812G>A (p.Lys604=) c.5898G>A (p.Lys1966=) c.5262G>A (p.Lys1754=) c.2052G>A (p.Lys684=) | |
5 | g.177292013G>C | CA362320332 | NSD1 | c.5445G>C (p.Lys1815Asn) c.960G>C (p.Lys320Asn) n.5901G>C n.734G>C c.6009G>C (p.Lys2003Asn) n.5715G>C c.6318G>C (p.Lys2106Asn) c.5511G>C (p.Lys1837Asn) n.460G>C c.1812G>C (p.Lys604Asn) c.5898G>C (p.Lys1966Asn) c.5262G>C (p.Lys1754Asn) c.2052G>C (p.Lys684Asn) | |
5 | g.177292013G>T | CA362320333 | NSD1 | c.5445G>T (p.Lys1815Asn) c.960G>T (p.Lys320Asn) n.5901G>T n.734G>T c.6009G>T (p.Lys2003Asn) n.5715G>T c.6318G>T (p.Lys2106Asn) c.5511G>T (p.Lys1837Asn) n.460G>T c.1812G>T (p.Lys604Asn) c.5898G>T (p.Lys1966Asn) c.5262G>T (p.Lys1754Asn) c.2052G>T (p.Lys684Asn) | |
5 | g.177292014C>A | CA362320337 | NSD1 | c.5446C>A (p.Arg1816Ser) c.961C>A (p.Arg321Ser) n.5902C>A n.735C>A c.6010C>A (p.Arg2004Ser) n.5716C>A c.6319C>A (p.Arg2107Ser) c.5512C>A (p.Arg1838Ser) n.461C>A c.1813C>A (p.Arg605Ser) c.5899C>A (p.Arg1967Ser) c.5263C>A (p.Arg1755Ser) c.2053C>A (p.Arg685Ser) | |
5 | g.177292014C= | CA1603532757 | NSD1 | c.5446C= (p.Arg1816=) c.961C= (p.Arg321=) n.5902C= n.735C= c.6010C= (p.Arg2004=) n.5716C= c.6319C= (p.Arg2107=) c.5512C= (p.Arg1838=) n.461C= c.1813C= (p.Arg605=) c.5899C= (p.Arg1967=) c.5263C= (p.Arg1755=) c.2053C= (p.Arg685=) | |
5 | g.177292014C>G | CA362320340 | NSD1 | c.5446C>G (p.Arg1816Gly) c.961C>G (p.Arg321Gly) n.5902C>G n.735C>G c.6010C>G (p.Arg2004Gly) n.5716C>G c.6319C>G (p.Arg2107Gly) c.5512C>G (p.Arg1838Gly) n.461C>G c.1813C>G (p.Arg605Gly) c.5899C>G (p.Arg1967Gly) c.5263C>G (p.Arg1755Gly) c.2053C>G (p.Arg685Gly) | dbSNP |
5 | g.177292014C>T | CA362320341 | NSD1 | c.5446C>T (p.Arg1816Cys) c.961C>T (p.Arg321Cys) n.5902C>T n.735C>T c.6010C>T (p.Arg2004Cys) n.5716C>T c.6319C>T (p.Arg2107Cys) c.5512C>T (p.Arg1838Cys) n.461C>T c.1813C>T (p.Arg605Cys) c.5899C>T (p.Arg1967Cys) c.5263C>T (p.Arg1755Cys) c.2053C>T (p.Arg685Cys) | dbSNP gnomAD v4 |
5 | g.177292015G>A | CA362320344 | NSD1 | c.5447G>A (p.Arg1816His) c.962G>A (p.Arg321His) n.5903G>A n.736G>A c.6011G>A (p.Arg2004His) n.5717G>A c.6320G>A (p.Arg2107His) c.5513G>A (p.Arg1838His) n.462G>A c.1814G>A (p.Arg605His) c.5900G>A (p.Arg1967His) c.5264G>A (p.Arg1755His) c.2054G>A (p.Arg685His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.177292015G>C | CA362320348 | NSD1 | c.5447G>C (p.Arg1816Pro) c.962G>C (p.Arg321Pro) n.5903G>C n.736G>C c.6011G>C (p.Arg2004Pro) n.5717G>C c.6320G>C (p.Arg2107Pro) c.5513G>C (p.Arg1838Pro) n.462G>C c.1814G>C (p.Arg605Pro) c.5900G>C (p.Arg1967Pro) c.5264G>C (p.Arg1755Pro) c.2054G>C (p.Arg685Pro) | |
5 | g.177292015G= | CA1603532763 | NSD1 | c.5447G= (p.Arg1816=) c.962G= (p.Arg321=) n.5903G= n.736G= c.6011G= (p.Arg2004=) n.5717G= c.6320G= (p.Arg2107=) c.5513G= (p.Arg1838=) n.462G= c.1814G= (p.Arg605=) c.5900G= (p.Arg1967=) c.5264G= (p.Arg1755=) c.2054G= (p.Arg685=) | |
5 | g.177292015G>T | CA362320345 | NSD1 | c.5447G>T (p.Arg1816Leu) c.962G>T (p.Arg321Leu) n.5903G>T n.736G>T c.6011G>T (p.Arg2004Leu) n.5717G>T c.6320G>T (p.Arg2107Leu) c.5513G>T (p.Arg1838Leu) n.462G>T c.1814G>T (p.Arg605Leu) c.5900G>T (p.Arg1967Leu) c.5264G>T (p.Arg1755Leu) c.2054G>T (p.Arg685Leu) | |
5 | g.177292016C>A | CA447740706 | NSD1 | c.5448C>A (p.Arg1816=) c.963C>A (p.Arg321=) n.5904C>A n.737C>A c.6012C>A (p.Arg2004=) n.5718C>A c.6321C>A (p.Arg2107=) c.5514C>A (p.Arg1838=) n.463C>A c.1815C>A (p.Arg605=) c.5901C>A (p.Arg1967=) c.5265C>A (p.Arg1755=) c.2055C>A (p.Arg685=) | |
5 | g.177292016C>G | CA447740707 | NSD1 | c.5448C>G (p.Arg1816=) c.963C>G (p.Arg321=) n.5904C>G n.737C>G c.6012C>G (p.Arg2004=) n.5718C>G c.6321C>G (p.Arg2107=) c.5514C>G (p.Arg1838=) n.463C>G c.1815C>G (p.Arg605=) c.5901C>G (p.Arg1967=) c.5265C>G (p.Arg1755=) c.2055C>G (p.Arg685=) | |
5 | g.177292016C>T | CA447740708 | NSD1 | c.5448C>T (p.Arg1816=) c.963C>T (p.Arg321=) n.5904C>T n.737C>T c.6012C>T (p.Arg2004=) n.5718C>T c.6321C>T (p.Arg2107=) c.5514C>T (p.Arg1838=) n.463C>T c.1815C>T (p.Arg605=) c.5901C>T (p.Arg1967=) c.5265C>T (p.Arg1755=) c.2055C>T (p.Arg685=) | |
5 | g.177292017A>C | CA447740709 | NSD1 | c.5449A>C (p.Arg1817=) c.964A>C (p.Arg322=) n.5905A>C n.738A>C c.6013A>C (p.Arg2005=) n.5719A>C c.6322A>C (p.Arg2108=) c.5515A>C (p.Arg1839=) n.464A>C c.1816A>C (p.Arg606=) c.5902A>C (p.Arg1968=) c.5266A>C (p.Arg1756=) c.2056A>C (p.Arg686=) | |
5 | g.177292017A>G | CA362320350 | NSD1 | c.5449A>G (p.Arg1817Gly) c.964A>G (p.Arg322Gly) n.5905A>G n.738A>G c.6013A>G (p.Arg2005Gly) n.5719A>G c.6322A>G (p.Arg2108Gly) c.5515A>G (p.Arg1839Gly) n.464A>G c.1816A>G (p.Arg606Gly) c.5902A>G (p.Arg1968Gly) c.5266A>G (p.Arg1756Gly) c.2056A>G (p.Arg686Gly) | |
5 | g.177292017A>T | CA362320351 | NSD1 | c.5449A>T (p.Arg1817Trp) c.964A>T (p.Arg322Trp) n.5905A>T n.738A>T c.6013A>T (p.Arg2005Trp) n.5719A>T c.6322A>T (p.Arg2108Trp) c.5515A>T (p.Arg1839Trp) n.464A>T c.1816A>T (p.Arg606Trp) c.5902A>T (p.Arg1968Trp) c.5266A>T (p.Arg1756Trp) c.2056A>T (p.Arg686Trp) | |
5 | g.177292018G>A | CA362320354 | NSD1 | c.5450G>A (p.Arg1817Lys) c.965G>A (p.Arg322Lys) n.5906G>A n.739G>A c.6014G>A (p.Arg2005Lys) n.5720G>A c.6323G>A (p.Arg2108Lys) c.5516G>A (p.Arg1839Lys) n.465G>A c.1817G>A (p.Arg606Lys) c.5903G>A (p.Arg1968Lys) c.5267G>A (p.Arg1756Lys) c.2057G>A (p.Arg686Lys) | dbSNP |
5 | g.177292018G>C | CA362320357 | NSD1 | c.5450G>C (p.Arg1817Thr) c.965G>C (p.Arg322Thr) n.5906G>C n.739G>C c.6014G>C (p.Arg2005Thr) n.5720G>C c.6323G>C (p.Arg2108Thr) c.5516G>C (p.Arg1839Thr) n.465G>C c.1817G>C (p.Arg606Thr) c.5903G>C (p.Arg1968Thr) c.5267G>C (p.Arg1756Thr) c.2057G>C (p.Arg686Thr) | |
5 | g.177292018G>T | CA362320360 | NSD1 | c.5450G>T (p.Arg1817Met) c.965G>T (p.Arg322Met) n.5906G>T n.739G>T c.6014G>T (p.Arg2005Met) n.5720G>T c.6323G>T (p.Arg2108Met) c.5516G>T (p.Arg1839Met) n.465G>T c.1817G>T (p.Arg606Met) c.5903G>T (p.Arg1968Met) c.5267G>T (p.Arg1756Met) c.2057G>T (p.Arg686Met) | |
5 | g.177292019del | CA645548642 | NSD1 | c.5451del (p.Thr1818ProfsTer?) c.966del (p.Thr323ProfsTer?) n.5907del n.740del c.6015del (p.Thr2006ProfsTer?) n.5721del c.6324del (p.Thr2109ProfsTer?) c.5517del (p.Thr1840ProfsTer?) n.466del c.1818del (p.Thr607ProfsTer?) c.5904del (p.Thr1969ProfsTer?) c.5268del (p.Thr1757ProfsTer?) c.2058del (p.Thr687ProfsTer?) | COSMIC COSMIC |
5 | g.177292019G>A | CA447740711 | NSD1 | c.5451G>A (p.Arg1817=) c.966G>A (p.Arg322=) n.5907G>A n.740G>A c.6015G>A (p.Arg2005=) n.5721G>A c.6324G>A (p.Arg2108=) c.5517G>A (p.Arg1839=) n.466G>A c.1818G>A (p.Arg606=) c.5904G>A (p.Arg1968=) c.5268G>A (p.Arg1756=) c.2058G>A (p.Arg686=) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.177292019G>C | CA362320363 | NSD1 | c.5451G>C (p.Arg1817Ser) c.966G>C (p.Arg322Ser) n.5907G>C n.740G>C c.6015G>C (p.Arg2005Ser) n.5721G>C c.6324G>C (p.Arg2108Ser) c.5517G>C (p.Arg1839Ser) n.466G>C c.1818G>C (p.Arg606Ser) c.5904G>C (p.Arg1968Ser) c.5268G>C (p.Arg1756Ser) c.2058G>C (p.Arg686Ser) | |
5 | g.177292019G= | CA1603532781 | NSD1 | c.5451G= (p.Arg1817=) c.966G= (p.Arg322=) n.5907G= n.740G= c.6015G= (p.Arg2005=) n.5721G= c.6324G= (p.Arg2108=) c.5517G= (p.Arg1839=) n.466G= c.1818G= (p.Arg606=) c.5904G= (p.Arg1968=) c.5268G= (p.Arg1756=) c.2058G= (p.Arg686=) | |
5 | g.177292019G>T | CA362320366 | NSD1 | c.5451G>T (p.Arg1817Ser) c.966G>T (p.Arg322Ser) n.5907G>T n.740G>T c.6015G>T (p.Arg2005Ser) n.5721G>T c.6324G>T (p.Arg2108Ser) c.5517G>T (p.Arg1839Ser) n.466G>T c.1818G>T (p.Arg606Ser) c.5904G>T (p.Arg1968Ser) c.5268G>T (p.Arg1756Ser) c.2058G>T (p.Arg686Ser) | |
5 | g.177292020A>C | CA362320368 | NSD1 | c.5452A>C (p.Thr1818Pro) c.967A>C (p.Thr323Pro) n.5908A>C n.741A>C c.6016A>C (p.Thr2006Pro) n.5722A>C c.6325A>C (p.Thr2109Pro) c.5518A>C (p.Thr1840Pro) n.467A>C c.1819A>C (p.Thr607Pro) c.5905A>C (p.Thr1969Pro) c.5269A>C (p.Thr1757Pro) c.2059A>C (p.Thr687Pro) | |
5 | g.177292020A>G | CA362320372 | NSD1 | c.5452A>G (p.Thr1818Ala) c.967A>G (p.Thr323Ala) n.5908A>G n.741A>G c.6016A>G (p.Thr2006Ala) n.5722A>G c.6325A>G (p.Thr2109Ala) c.5518A>G (p.Thr1840Ala) n.467A>G c.1819A>G (p.Thr607Ala) c.5905A>G (p.Thr1969Ala) c.5269A>G (p.Thr1757Ala) c.2059A>G (p.Thr687Ala) | |
5 | g.177292020A>T | CA362320373 | NSD1 | c.5452A>T (p.Thr1818Ser) c.967A>T (p.Thr323Ser) n.5908A>T n.741A>T c.6016A>T (p.Thr2006Ser) n.5722A>T c.6325A>T (p.Thr2109Ser) c.5518A>T (p.Thr1840Ser) n.467A>T c.1819A>T (p.Thr607Ser) c.5905A>T (p.Thr1969Ser) c.5269A>T (p.Thr1757Ser) c.2059A>T (p.Thr687Ser) | |
5 | g.177292021C>A | CA362320376 | NSD1 | c.5453C>A (p.Thr1818Asn) c.968C>A (p.Thr323Asn) n.5909C>A n.742C>A c.6017C>A (p.Thr2006Asn) n.5723C>A c.6326C>A (p.Thr2109Asn) c.5519C>A (p.Thr1840Asn) n.468C>A c.1820C>A (p.Thr607Asn) c.5906C>A (p.Thr1969Asn) c.5270C>A (p.Thr1757Asn) c.2060C>A (p.Thr687Asn) | |
5 | g.177292021C>G | CA362320381 | NSD1 | c.5453C>G (p.Thr1818Ser) c.968C>G (p.Thr323Ser) n.5909C>G n.742C>G c.6017C>G (p.Thr2006Ser) n.5723C>G c.6326C>G (p.Thr2109Ser) c.5519C>G (p.Thr1840Ser) n.468C>G c.1820C>G (p.Thr607Ser) c.5906C>G (p.Thr1969Ser) c.5270C>G (p.Thr1757Ser) c.2060C>G (p.Thr687Ser) | dbSNP |
5 | g.177292021C>T | CA362320379 | NSD1 | c.5453C>T (p.Thr1818Ile) c.968C>T (p.Thr323Ile) n.5909C>T n.742C>T c.6017C>T (p.Thr2006Ile) n.5723C>T c.6326C>T (p.Thr2109Ile) c.5519C>T (p.Thr1840Ile) n.468C>T c.1820C>T (p.Thr607Ile) c.5906C>T (p.Thr1969Ile) c.5270C>T (p.Thr1757Ile) c.2060C>T (p.Thr687Ile) | gnomAD v4 |
5 | g.177292022C>A | CA447740715 | NSD1 | c.5454C>A (p.Thr1818=) c.969C>A (p.Thr323=) n.5910C>A n.743C>A c.6018C>A (p.Thr2006=) n.5724C>A c.6327C>A (p.Thr2109=) c.5520C>A (p.Thr1840=) n.469C>A c.1821C>A (p.Thr607=) c.5907C>A (p.Thr1969=) c.5271C>A (p.Thr1757=) c.2061C>A (p.Thr687=) | |
5 | g.177292022C= | CA1603532783 | NSD1 | c.5454C= (p.Thr1818=) c.969C= (p.Thr323=) n.5910C= n.743C= c.6018C= (p.Thr2006=) n.5724C= c.6327C= (p.Thr2109=) c.5520C= (p.Thr1840=) n.469C= c.1821C= (p.Thr607=) c.5907C= (p.Thr1969=) c.5271C= (p.Thr1757=) c.2061C= (p.Thr687=) | |
5 | g.177292022C>G | CA447740716 | NSD1 | c.5454C>G (p.Thr1818=) c.969C>G (p.Thr323=) n.5910C>G n.743C>G c.6018C>G (p.Thr2006=) n.5724C>G c.6327C>G (p.Thr2109=) c.5520C>G (p.Thr1840=) n.469C>G c.1821C>G (p.Thr607=) c.5907C>G (p.Thr1969=) c.5271C>G (p.Thr1757=) c.2061C>G (p.Thr687=) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.177292022C>T | CA447740718 | NSD1 | c.5454C>T (p.Thr1818=) c.969C>T (p.Thr323=) n.5910C>T n.743C>T c.6018C>T (p.Thr2006=) n.5724C>T c.6327C>T (p.Thr2109=) c.5520C>T (p.Thr1840=) n.469C>T c.1821C>T (p.Thr607=) c.5907C>T (p.Thr1969=) c.5271C>T (p.Thr1757=) c.2061C>T (p.Thr687=) | |
5 | g.177292023C>A | CA362320384 | NSD1 | c.5455C>A (p.Gln1819Lys) c.970C>A (p.Gln324Lys) n.5911C>A n.744C>A c.6019C>A (p.Gln2007Lys) n.5725C>A c.6328C>A (p.Gln2110Lys) c.5521C>A (p.Gln1841Lys) n.470C>A c.1822C>A (p.Gln608Lys) c.5908C>A (p.Gln1970Lys) c.5272C>A (p.Gln1758Lys) c.2062C>A (p.Gln688Lys) | |
5 | g.177292023C= | CA1603532791 | NSD1 | c.5455C= (p.Gln1819=) c.970C= (p.Gln324=) n.5911C= n.744C= c.6019C= (p.Gln2007=) n.5725C= c.6328C= (p.Gln2110=) c.5521C= (p.Gln1841=) n.470C= c.1822C= (p.Gln608=) c.5908C= (p.Gln1970=) c.5272C= (p.Gln1758=) c.2062C= (p.Gln688=) | |
5 | g.177292023C>G | CA362320390 | NSD1 | c.5455C>G (p.Gln1819Glu) c.970C>G (p.Gln324Glu) n.5911C>G n.744C>G c.6019C>G (p.Gln2007Glu) n.5725C>G c.6328C>G (p.Gln2110Glu) c.5521C>G (p.Gln1841Glu) n.470C>G c.1822C>G (p.Gln608Glu) c.5908C>G (p.Gln1970Glu) c.5272C>G (p.Gln1758Glu) c.2062C>G (p.Gln688Glu) | |
5 | g.177292023C>T | CA362320387 | NSD1 | c.5455C>T (p.Gln1819Ter) c.970C>T (p.Gln324Ter) n.5911C>T n.744C>T c.6019C>T (p.Gln2007Ter) n.5725C>T c.6328C>T (p.Gln2110Ter) c.5521C>T (p.Gln1841Ter) n.470C>T c.1822C>T (p.Gln608Ter) c.5908C>T (p.Gln1970Ter) c.5272C>T (p.Gln1758Ter) c.2062C>T (p.Gln688Ter) | ClinVar dbSNP |
5 | g.177292024A= | CA1603532798 | NSD1 | c.5456A= (p.Gln1819=) c.971A= (p.Gln324=) n.5912A= n.745A= c.6020A= (p.Gln2007=) n.5726A= c.6329A= (p.Gln2110=) c.5522A= (p.Gln1841=) n.471A= c.1823A= (p.Gln608=) c.5909A= (p.Gln1970=) c.5273A= (p.Gln1758=) c.2063A= (p.Gln688=) | |
5 | g.177292024A>C | CA362320393 | NSD1 | c.5456A>C (p.Gln1819Pro) c.971A>C (p.Gln324Pro) n.5912A>C n.745A>C c.6020A>C (p.Gln2007Pro) n.5726A>C c.6329A>C (p.Gln2110Pro) c.5522A>C (p.Gln1841Pro) n.471A>C c.1823A>C (p.Gln608Pro) c.5909A>C (p.Gln1970Pro) c.5273A>C (p.Gln1758Pro) c.2063A>C (p.Gln688Pro) | |
5 | g.177292024A>G | CA3577978 | NSD1 | c.5456A>G (p.Gln1819Arg) c.971A>G (p.Gln324Arg) n.5912A>G n.745A>G c.6020A>G (p.Gln2007Arg) n.5726A>G c.6329A>G (p.Gln2110Arg) c.5522A>G (p.Gln1841Arg) n.471A>G c.1823A>G (p.Gln608Arg) c.5909A>G (p.Gln1970Arg) c.5273A>G (p.Gln1758Arg) c.2063A>G (p.Gln688Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.177292024A>T | CA362320397 | NSD1 | c.5456A>T (p.Gln1819Leu) c.971A>T (p.Gln324Leu) n.5912A>T n.745A>T c.6020A>T (p.Gln2007Leu) n.5726A>T c.6329A>T (p.Gln2110Leu) c.5522A>T (p.Gln1841Leu) n.471A>T c.1823A>T (p.Gln608Leu) c.5909A>T (p.Gln1970Leu) c.5273A>T (p.Gln1758Leu) c.2063A>T (p.Gln688Leu) | dbSNP COSMIC COSMIC |
5 | g.177292025G>A | CA447740719 | NSD1 | c.5457G>A (p.Gln1819=) c.972G>A (p.Gln324=) n.5913G>A n.746G>A c.6021G>A (p.Gln2007=) n.5727G>A c.6330G>A (p.Gln2110=) c.5523G>A (p.Gln1841=) n.472G>A c.1824G>A (p.Gln608=) c.5910G>A (p.Gln1970=) c.5274G>A (p.Gln1758=) c.2064G>A (p.Gln688=) | |
5 | g.177292025G>C | CA362320400 | NSD1 | c.5457G>C (p.Gln1819His) c.972G>C (p.Gln324His) n.5913G>C n.746G>C c.6021G>C (p.Gln2007His) n.5727G>C c.6330G>C (p.Gln2110His) c.5523G>C (p.Gln1841His) n.472G>C c.1824G>C (p.Gln608His) c.5910G>C (p.Gln1970His) c.5274G>C (p.Gln1758His) c.2064G>C (p.Gln688His) | |
5 | g.177292025G>T | CA362320402 | NSD1 | c.5457G>T (p.Gln1819His) c.972G>T (p.Gln324His) n.5913G>T n.746G>T c.6021G>T (p.Gln2007His) n.5727G>T c.6330G>T (p.Gln2110His) c.5523G>T (p.Gln1841His) n.472G>T c.1824G>T (p.Gln608His) c.5910G>T (p.Gln1970His) c.5274G>T (p.Gln1758His) c.2064G>T (p.Gln688His) | |
5 | g.177292026G>A | CA362320405 | NSD1 | c.5458G>A (p.Gly1820Ser) c.973G>A (p.Gly325Ser) n.5914G>A n.747G>A c.6022G>A (p.Gly2008Ser) n.5728G>A c.6331G>A (p.Gly2111Ser) c.5524G>A (p.Gly1842Ser) n.473G>A c.1825G>A (p.Gly609Ser) c.5911G>A (p.Gly1971Ser) c.5275G>A (p.Gly1759Ser) c.2065G>A (p.Gly689Ser) | |
5 | g.177292026G>C | CA362320410 | NSD1 | c.5458G>C (p.Gly1820Arg) c.973G>C (p.Gly325Arg) n.5914G>C n.747G>C c.6022G>C (p.Gly2008Arg) n.5728G>C c.6331G>C (p.Gly2111Arg) c.5524G>C (p.Gly1842Arg) n.473G>C c.1825G>C (p.Gly609Arg) c.5911G>C (p.Gly1971Arg) c.5275G>C (p.Gly1759Arg) c.2065G>C (p.Gly689Arg) | |
5 | g.177292026G= | CA1603532801 | NSD1 | c.5458G= (p.Gly1820=) c.973G= (p.Gly325=) n.5914G= n.747G= c.6022G= (p.Gly2008=) n.5728G= c.6331G= (p.Gly2111=) c.5524G= (p.Gly1842=) n.473G= c.1825G= (p.Gly609=) c.5911G= (p.Gly1971=) c.5275G= (p.Gly1759=) c.2065G= (p.Gly689=) | |
5 | g.177292026G>T | CA362320408 | NSD1 | c.5458G>T (p.Gly1820Cys) c.973G>T (p.Gly325Cys) n.5914G>T n.747G>T c.6022G>T (p.Gly2008Cys) n.5728G>T c.6331G>T (p.Gly2111Cys) c.5524G>T (p.Gly1842Cys) n.473G>T c.1825G>T (p.Gly609Cys) c.5911G>T (p.Gly1971Cys) c.5275G>T (p.Gly1759Cys) c.2065G>T (p.Gly689Cys) | dbSNP gnomAD v4 |
5 | g.177292027G>A | CA362320414 | NSD1 | c.5459G>A (p.Gly1820Asp) c.974G>A (p.Gly325Asp) n.5915G>A n.748G>A c.6023G>A (p.Gly2008Asp) n.5729G>A c.6332G>A (p.Gly2111Asp) c.5525G>A (p.Gly1842Asp) n.474G>A c.1826G>A (p.Gly609Asp) c.5912G>A (p.Gly1971Asp) c.5276G>A (p.Gly1759Asp) c.2066G>A (p.Gly689Asp) | dbSNP |
5 | g.177292027G>C | CA362320417 | NSD1 | c.5459G>C (p.Gly1820Ala) c.974G>C (p.Gly325Ala) n.5915G>C n.748G>C c.6023G>C (p.Gly2008Ala) n.5729G>C c.6332G>C (p.Gly2111Ala) c.5525G>C (p.Gly1842Ala) n.474G>C c.1826G>C (p.Gly609Ala) c.5912G>C (p.Gly1971Ala) c.5276G>C (p.Gly1759Ala) c.2066G>C (p.Gly689Ala) | |
5 | g.177292027G>T | CA362320419 | NSD1 | c.5459G>T (p.Gly1820Val) c.974G>T (p.Gly325Val) n.5915G>T n.748G>T c.6023G>T (p.Gly2008Val) n.5729G>T c.6332G>T (p.Gly2111Val) c.5525G>T (p.Gly1842Val) n.474G>T c.1826G>T (p.Gly609Val) c.5912G>T (p.Gly1971Val) c.5276G>T (p.Gly1759Val) c.2066G>T (p.Gly689Val) | |
5 | g.177292028T>A | CA447740725 | NSD1 | c.5460T>A (p.Gly1820=) c.975T>A (p.Gly325=) n.5916T>A n.749T>A c.6024T>A (p.Gly2008=) n.5730T>A c.6333T>A (p.Gly2111=) c.5526T>A (p.Gly1842=) n.475T>A c.1827T>A (p.Gly609=) c.5913T>A (p.Gly1971=) c.5277T>A (p.Gly1759=) c.2067T>A (p.Gly689=) | dbSNP gnomAD v4 |
5 | g.177292028T>C | CA447740724 | NSD1 | c.5460T>C (p.Gly1820=) c.975T>C (p.Gly325=) n.5916T>C n.749T>C c.6024T>C (p.Gly2008=) n.5730T>C c.6333T>C (p.Gly2111=) c.5526T>C (p.Gly1842=) n.475T>C c.1827T>C (p.Gly609=) c.5913T>C (p.Gly1971=) c.5277T>C (p.Gly1759=) c.2067T>C (p.Gly689=) | gnomAD v4 |
5 | g.177292028T>G | CA447740723 | NSD1 | c.5460T>G (p.Gly1820=) c.975T>G (p.Gly325=) n.5916T>G n.749T>G c.6024T>G (p.Gly2008=) n.5730T>G c.6333T>G (p.Gly2111=) c.5526T>G (p.Gly1842=) n.475T>G c.1827T>G (p.Gly609=) c.5913T>G (p.Gly1971=) c.5277T>G (p.Gly1759=) c.2067T>G (p.Gly689=) | |
5 | g.177292028T= | CA1603532804 | NSD1 | c.5460T= (p.Gly1820=) c.975T= (p.Gly325=) n.5916T= n.749T= c.6024T= (p.Gly2008=) n.5730T= c.6333T= (p.Gly2111=) c.5526T= (p.Gly1842=) n.475T= c.1827T= (p.Gly609=) c.5913T= (p.Gly1971=) c.5277T= (p.Gly1759=) c.2067T= (p.Gly689=) | |
5 | g.177292029G>A | CA362320423 | NSD1 | c.5461G>A (p.Glu1821Lys) c.976G>A (p.Glu326Lys) n.5917G>A n.750G>A c.6025G>A (p.Glu2009Lys) n.5731G>A c.6334G>A (p.Glu2112Lys) c.5527G>A (p.Glu1843Lys) n.476G>A c.1828G>A (p.Glu610Lys) c.5914G>A (p.Glu1972Lys) c.5278G>A (p.Glu1760Lys) c.2068G>A (p.Glu690Lys) | dbSNP |
5 | g.177292029G>C | CA362320426 | NSD1 | c.5461G>C (p.Glu1821Gln) c.976G>C (p.Glu326Gln) n.5917G>C n.750G>C c.6025G>C (p.Glu2009Gln) n.5731G>C c.6334G>C (p.Glu2112Gln) c.5527G>C (p.Glu1843Gln) n.476G>C c.1828G>C (p.Glu610Gln) c.5914G>C (p.Glu1972Gln) c.5278G>C (p.Glu1760Gln) c.2068G>C (p.Glu690Gln) | |
5 | g.177292029G>T | CA362320428 | NSD1 | c.5461G>T (p.Glu1821Ter) c.976G>T (p.Glu326Ter) n.5917G>T n.750G>T c.6025G>T (p.Glu2009Ter) n.5731G>T c.6334G>T (p.Glu2112Ter) c.5527G>T (p.Glu1843Ter) n.476G>T c.1828G>T (p.Glu610Ter) c.5914G>T (p.Glu1972Ter) c.5278G>T (p.Glu1760Ter) c.2068G>T (p.Glu690Ter) | |
5 | g.177292030A>C | CA362320431 | NSD1 | c.5462A>C (p.Glu1821Ala) c.977A>C (p.Glu326Ala) n.5918A>C n.751A>C c.6026A>C (p.Glu2009Ala) n.5732A>C c.6335A>C (p.Glu2112Ala) c.5528A>C (p.Glu1843Ala) n.477A>C c.1829A>C (p.Glu610Ala) c.5915A>C (p.Glu1972Ala) c.5279A>C (p.Glu1760Ala) c.2069A>C (p.Glu690Ala) | |
5 | g.177292030A>G | CA362320434 | NSD1 | c.5462A>G (p.Glu1821Gly) c.977A>G (p.Glu326Gly) n.5918A>G n.751A>G c.6026A>G (p.Glu2009Gly) n.5732A>G c.6335A>G (p.Glu2112Gly) c.5528A>G (p.Glu1843Gly) n.477A>G c.1829A>G (p.Glu610Gly) c.5915A>G (p.Glu1972Gly) c.5279A>G (p.Glu1760Gly) c.2069A>G (p.Glu690Gly) | |
5 | g.177292030A>T | CA362320436 | NSD1 | c.5462A>T (p.Glu1821Val) c.977A>T (p.Glu326Val) n.5918A>T n.751A>T c.6026A>T (p.Glu2009Val) n.5732A>T c.6335A>T (p.Glu2112Val) c.5528A>T (p.Glu1843Val) n.477A>T c.1829A>T (p.Glu610Val) c.5915A>T (p.Glu1972Val) c.5279A>T (p.Glu1760Val) c.2069A>T (p.Glu690Val) | |
5 | g.177292031A>C | CA362320437 | NSD1 | c.5463A>C (p.Glu1821Asp) c.978A>C (p.Glu326Asp) n.5919A>C n.752A>C c.6027A>C (p.Glu2009Asp) n.5733A>C c.6336A>C (p.Glu2112Asp) c.5529A>C (p.Glu1843Asp) n.478A>C c.1830A>C (p.Glu610Asp) c.5916A>C (p.Glu1972Asp) c.5280A>C (p.Glu1760Asp) c.2070A>C (p.Glu690Asp) | |
5 | g.177292031A>G | CA447740726 | NSD1 | c.5463A>G (p.Glu1821=) c.978A>G (p.Glu326=) n.5919A>G n.752A>G c.6027A>G (p.Glu2009=) n.5733A>G c.6336A>G (p.Glu2112=) c.5529A>G (p.Glu1843=) n.478A>G c.1830A>G (p.Glu610=) c.5916A>G (p.Glu1972=) c.5280A>G (p.Glu1760=) c.2070A>G (p.Glu690=) | |
5 | g.177292031A>T | CA362320438 | NSD1 | c.5463A>T (p.Glu1821Asp) c.978A>T (p.Glu326Asp) n.5919A>T n.752A>T c.6027A>T (p.Glu2009Asp) n.5733A>T c.6336A>T (p.Glu2112Asp) c.5529A>T (p.Glu1843Asp) n.478A>T c.1830A>T (p.Glu610Asp) c.5916A>T (p.Glu1972Asp) c.5280A>T (p.Glu1760Asp) c.2070A>T (p.Glu690Asp) |