Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.177291927G>ACA2676691922NSD1c.5386-27G>A (n.5386-27G>A)
c.901-27G>A (n.901-27G>A)
n.5842-27G>A
n.648G>A
c.5950-27G>A (n.5950-27G>A)
n.5656-27G>A
c.6259-27G>A (n.6259-27G>A)
c.5452-27G>A (n.5452-27G>A)
n.401-27G>A
c.1753-27G>A (n.1753-27G>A)
c.5839-27G>A (n.5839-27G>A)
c.5203-27G>A (n.5203-27G>A)
c.1993-27G>A (n.1993-27G>A)
 gnomAD v4
5g.177291928C>ACA2676691923NSD1c.5386-26C>A (n.5386-26C>A)
c.901-26C>A (n.901-26C>A)
n.5842-26C>A
n.649C>A
c.5950-26C>A (n.5950-26C>A)
n.5656-26C>A
c.6259-26C>A (n.6259-26C>A)
c.5452-26C>A (n.5452-26C>A)
n.401-26C>A
c.1753-26C>A (n.1753-26C>A)
c.5839-26C>A (n.5839-26C>A)
c.5203-26C>A (n.5203-26C>A)
c.1993-26C>A (n.1993-26C>A)
 gnomAD v4
5g.177291928C=CA1603532546NSD1c.5386-26C= (n.5386-26C=)
c.901-26C= (n.901-26C=)
n.5842-26C=
n.649C=
c.5950-26C= (n.5950-26C=)
n.5656-26C=
c.6259-26C= (n.6259-26C=)
c.5452-26C= (n.5452-26C=)
n.401-26C=
c.1753-26C= (n.1753-26C=)
c.5839-26C= (n.5839-26C=)
c.5203-26C= (n.5203-26C=)
c.1993-26C= (n.1993-26C=)
5g.177291928C>TCA564899183NSD1c.5386-26C>T (n.5386-26C>T)
c.901-26C>T (n.901-26C>T)
n.5842-26C>T
n.649C>T
c.5950-26C>T (n.5950-26C>T)
n.5656-26C>T
c.6259-26C>T (n.6259-26C>T)
c.5452-26C>T (n.5452-26C>T)
n.401-26C>T
c.1753-26C>T (n.1753-26C>T)
c.5839-26C>T (n.5839-26C>T)
c.5203-26C>T (n.5203-26C>T)
c.1993-26C>T (n.1993-26C>T)
 dbSNP gnomAD v2 gnomAD v4
5g.177291931A>GCA2769562731NSD1c.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)
5g.177291933T>CCA3577969NSD1c.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
5g.177291933T=CA1603532556NSD1c.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=)
5g.177291934G>ACA3577970NSD1c.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
5g.177291934G=CA1603532561NSD1c.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=)
5g.177291934G>TCA2578495122NSD1c.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)
5g.177291937C>ACA2676691924NSD1c.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
5g.177291939A=CA1603532563NSD1c.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=)
5g.177291939A>GCA808059652NSD1c.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
5g.177291941A>GCA2676691925NSD1c.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
5g.177291943C>GCA2676691926NSD1c.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
5g.177291945G>ACA2676691927NSD1c.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
5g.177291945G>CCA2711004060NSD1c.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
5g.177291945G>TCA2676691928NSD1c.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
5g.177291946A=CA1603532565NSD1c.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=)
5g.177291946A>TCA295050NSD1c.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
5g.177291947C>TCA2676691929NSD1c.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
5g.177291948C>ACA3577971NSD1c.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
5g.177291948C=CA1603532572NSD1c.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=)
5g.177291948C>TCA2676691930NSD1c.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
5g.177291949T>CCA2676691931NSD1c.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
5g.177291950G>ACA564899184NSD1c.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
5g.177291950G=CA1603532579NSD1c.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=)
5g.177291950G>TCA3577972NSD1c.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
5g.177291951T>CCA2578495123NSD1c.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)
5g.177291951T>GCA2711004061NSD1c.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
5g.177291952A>CCA362319935NSD1c.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)
5g.177291952A>GCA362319937NSD1c.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)
5g.177291952A>TCA362319940NSD1c.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)
5g.177291953G>ACA362319948NSD1c.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
5g.177291953G>CCA362319943NSD1c.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
5g.177291953G>TCA362319945NSD1c.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)
5g.177291954A=CA1603532586NSD1c.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=)
5g.177291954A>CCA362319950NSD1c.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)
5g.177291954A>GCA132861224NSD1c.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
5g.177291954A>TCA362319953NSD1c.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)
5g.177291955A=CA1603532590NSD1c.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=)
5g.177291955A>CCA362319956NSD1c.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)
5g.177291955A>GCA362319957NSD1c.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
5g.177291955A>TCA362319958NSD1c.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)
5g.177291956T>ACA362319962NSD1c.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)
5g.177291956T>CCA447740627NSD1c.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
5g.177291956T>GCA362319965NSD1c.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)
5g.177291957C>ACA362319968NSD1c.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)
5g.177291957C>GCA362319971NSD1c.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)
5g.177291957C>TCA362319973NSD1c.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
5g.177291958A>CCA362319982NSD1c.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)
5g.177291958A>GCA362319980NSD1c.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)
5g.177291958A>TCA362319977NSD1c.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)
5g.177291959A>CCA362319984NSD1c.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)
5g.177291959A>GCA447740638NSD1c.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
5g.177291959A>TCA362319986NSD1c.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)
5g.177291960C>ACA362319990NSD1c.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)
5g.177291960C=CA1603532593NSD1c.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=)
5g.177291960C>GCA362319993NSD1c.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)
5g.177291960C>TCA3577973NSD1c.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
5g.177291961C>ACA362319998NSD1c.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)
5g.177291961C=CA1603532599NSD1c.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=)
5g.177291961C>GCA362320000NSD1c.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
5g.177291961C>TCA362320003NSD1c.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)
5g.177291962C>ACA447740643NSD1c.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=)
5g.177291962C=CA1603532602NSD1c.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=)
5g.177291962C>GCA447740644NSD1c.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=)
5g.177291962C>TCA447740646NSD1c.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
5g.177291963A=CA1603532605NSD1c.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=)
5g.177291963A>CCA362320005NSD1c.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)
5g.177291963A>GCA362320008NSD1c.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
5g.177291963A>TCA362320009NSD1c.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)
5g.177291964T>ACA362320011NSD1c.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)
5g.177291964T>CCA362320014NSD1c.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)
5g.177291964T>GCA362320017NSD1c.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)
5g.177291965T>ACA447740648NSD1c.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=)
5g.177291965T>CCA447740649NSD1c.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=)
5g.177291965T>GCA362320019NSD1c.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)
5g.177291966G>ACA362320021NSD1c.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)
5g.177291966G>CCA362320024NSD1c.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
5g.177291966G>TCA362320027NSD1c.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)
5g.177291967C>ACA362320031NSD1c.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)
5g.177291967C>GCA362320034NSD1c.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
5g.177291967C>TCA362320036NSD1c.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
5g.177291968C>ACA447740651NSD1c.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=)
5g.177291968C>GCA447740652NSD1c.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=)
5g.177291968C>TCA447740653NSD1c.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
5g.177291969A>CCA362320040NSD1c.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)
5g.177291969A>GCA362320042NSD1c.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)
5g.177291969A>TCA362320045NSD1c.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
5g.177291970C>ACA3577974NSD1c.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
5g.177291970C=CA1603532610NSD1c.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=)
5g.177291970C>GCA362320050NSD1c.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)
5g.177291970C>TCA362320053NSD1c.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
5g.177291971G>ACA3577975NSD1c.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
5g.177291971G>CCA447740657NSD1c.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=)
5g.177291971G=CA1603532613NSD1c.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=)
5g.177291971G>TCA447740656NSD1c.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=)
5g.177291972G>ACA362320061NSD1c.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
5g.177291972G>CCA362320064NSD1c.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)
5g.177291972G=CA1603532615NSD1c.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=)
5g.177291972G>TCA362320058NSD1c.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)
5g.177291973A>CCA362320069NSD1c.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)
5g.177291973A>GCA362320067NSD1c.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)
5g.177291973A>TCA362320073NSD1c.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)
5g.177291974A>CCA362320075NSD1c.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)
5g.177291974A>GCA447740661NSD1c.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=)
5g.177291974A>TCA362320079NSD1c.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)
5g.177291975G>ACA362320082NSD1c.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
5g.177291975G>CCA132861243NSD1c.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
5g.177291975G=CA1603532618NSD1c.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=)
5g.177291975G>TCA362320087NSD1c.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)
5g.177291976A>CCA362320090NSD1c.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)
5g.177291976A>GCA362320093NSD1c.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)
5g.177291976A>TCA362320095NSD1c.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)
5g.177291977A=CA1603532621NSD1c.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=)
5g.177291977A>CCA362320097NSD1c.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)
5g.177291977A>GCA447740663NSD1c.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
5g.177291977A>TCA362320099NSD1c.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)
5g.177291978A>CCA362320102NSD1c.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)
5g.177291978A>GCA362320104NSD1c.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)
5g.177291978A>TCA362320108NSD1c.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)
5g.177291980_177291984delCA2695205734NSD1c.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)
5g.177291979A>CCA362320116NSD1c.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)
5g.177291979A>GCA362320111NSD1c.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)
5g.177291979A>TCA362320113NSD1c.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)
5g.177291980G>ACA447740666NSD1c.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
5g.177291980G>CCA362320119NSD1c.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)
5g.177291980G=CA1603532629NSD1c.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=)
5g.177291980G>TCA362320122NSD1c.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)
5g.177291981T>ACA362320125NSD1c.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
5g.177291981T>CCA362320128NSD1c.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)
5g.177291981T>GCA362320131NSD1c.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)
5g.177291982C>ACA362320134NSD1c.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)
5g.177291982C=CA1603532632NSD1c.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=)
5g.177291982C>GCA362320135NSD1c.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)
5g.177291982C>TCA362320138NSD1c.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)
5g.177291983A>CCA447740671NSD1c.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=)
5g.177291983A>GCA447740672NSD1c.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=)
5g.177291983A>TCA447740673NSD1c.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=)
5g.177291985dupCA319737NSD1c.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
5g.177291986_177291989delCA2499217788NSD1c.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
5g.177291984A=CA1603532644NSD1c.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=)
5g.177291984A>CCA362320142NSD1c.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)
5g.177291984A>GCA16042522NSD1c.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
5g.177291984A>TCA362320145NSD1c.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)
5g.177291985A>CCA362320154NSD1c.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)
5g.177291985A>GCA362320151NSD1c.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)
5g.177291985A>TCA362320149NSD1c.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)
5g.177291985_177291986delinsAGCA1603532656NSD1c.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=)
5g.177291986delCA295051NSD1c.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
5g.177291986G>ACA447740675NSD1c.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
5g.177291986G>CCA362320157NSD1c.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)
5g.177291986G=CA1603532667NSD1c.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=)
5g.177291986G>TCA362320159NSD1c.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)
5g.177291986_177291992delinsGAAATTCCA1603532664NSD1c.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=)
5g.177291987A=CA1603532678NSD1c.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=)
5g.177291987A>CCA362320165NSD1c.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
5g.177291987A>GCA362320167NSD1c.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)
5g.177291987A>TCA362320169NSD1c.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)
5g.177291989delCA2499217789NSD1c.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
5g.177291989_177291994delCA3577976NSD1c.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
5g.177291988A>CCA362320174NSD1c.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)
5g.177291988A>GCA362320176NSD1c.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)
5g.177291988A>TCA362320179NSD1c.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)
5g.177291989A>CCA362320181NSD1c.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)
5g.177291989A>GCA447740681NSD1c.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=)
5g.177291989A>TCA362320184NSD1c.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)
5g.177291990T>ACA362320189NSD1c.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)
5g.177291990T>CCA362320192NSD1c.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)
5g.177291990T>GCA362320188NSD1c.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)
5g.177291991T>ACA362320196NSD1c.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)
5g.177291991T>CCA362320197NSD1c.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)
5g.177291991T>GCA362320200NSD1c.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)
5g.177291992C>ACA362320203NSD1c.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
5g.177291992C=CA1603532685NSD1c.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=)
5g.177291992C>GCA362320205NSD1c.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
5g.177291992C>TCA447740684NSD1c.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=)
5g.177291992_177291995delinsCAAGCA1603532688NSD1c.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=)
5g.177291993A>CCA362320212NSD1c.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)
5g.177291993A>GCA362320209NSD1c.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)
5g.177291993A>TCA362320211NSD1c.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)
5g.177291999_177292001delCA564899189NSD1c.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
5g.177291994A=CA1603532694NSD1c.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=)
5g.177291994A>CCA362320213NSD1c.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)
5g.177291994A>GCA132861263NSD1c.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
5g.177291994A>TCA362320214NSD1c.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)
5g.177291995G>ACA447740688NSD1c.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
5g.177291995G>CCA362320216NSD1c.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)
5g.177291995G=CA1603532697NSD1c.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=)
5g.177291995G>TCA362320217NSD1c.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)
5g.177291996A>CCA362320224NSD1c.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)
5g.177291996A>GCA362320221NSD1c.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)
5g.177291996A>TCA362320220NSD1c.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)
5g.177291997delCA658820944NSD1c.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?)
5g.177291997A>CCA362320228NSD1c.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)
5g.177291997A>GCA362320230NSD1c.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
5g.177291997A>TCA362320232NSD1c.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)
5g.177291998G>ACA447740691NSD1c.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=)
5g.177291998G>CCA362320235NSD1c.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)
5g.177291998G>TCA362320238NSD1c.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
5g.177291999A>CCA362320240NSD1c.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
5g.177291999A>GCA362320242NSD1c.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)
5g.177291999A>TCA362320245NSD1c.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)
5g.177292000A=CA1603532701NSD1c.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=)
5g.177292000A>CCA362320249NSD1c.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)
5g.177292000A>GCA362320251NSD1c.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)
5g.177292000A>TCA362320253NSD1c.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)
5g.177292001G>ACA447740693NSD1c.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=)
5g.177292001G>CCA362320256NSD1c.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)
5g.177292001G>TCA362320258NSD1c.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)
5g.177292002_177292003insTGTGCCA319703NSD1c.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
5g.177292002C>ACA362320262NSD1c.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
5g.177292002C=CA1603532714NSD1c.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=)
5g.177292002C>GCA362320264NSD1c.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)
5g.177292002C>TCA295052NSD1c.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
5g.177292003A>CCA362320268NSD1c.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
5g.177292003A>GCA362320271NSD1c.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)
5g.177292003A>TCA362320273NSD1c.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)
5g.177292004dupCA2695205735NSD1c.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)
5g.177292004A>CCA362320276NSD1c.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)
5g.177292004A>GCA447740697NSD1c.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=)
5g.177292004A>TCA362320277NSD1c.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)
5g.177292005C>ACA362320282NSD1c.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)
5g.177292005C=CA1603532720NSD1c.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=)
5g.177292005C>GCA362320285NSD1c.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
5g.177292005C>TCA295055NSD1c.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
5g.177292005_177292007delinsCAGCA1603532724NSD1c.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=)
5g.177292006A>CCA362320289NSD1c.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)
5g.177292006A>GCA362320291NSD1c.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)
5g.177292006A>TCA362320293NSD1c.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)
5g.177292006_177292007delCA295058NSD1c.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
5g.177292007G>ACA447740699NSD1c.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
5g.177292007G>CCA362320297NSD1c.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)
5g.177292007G>TCA362320299NSD1c.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
5g.177292008_177292009delCA2739289827NSD1c.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)
5g.177292008G>ACA362320300NSD1c.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
5g.177292008G>CCA362320304NSD1c.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)
5g.177292008G>TCA362320301NSD1c.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)
5g.177292009G>ACA362320307NSD1c.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
5g.177292009G>CCA362320309NSD1c.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)
5g.177292009G=CA1603532741NSD1c.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=)
5g.177292009G>TCA362320311NSD1c.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)
5g.177292009_177292010delinsGACA1603532740NSD1c.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=)
5g.177292010A>CCA447740701NSD1c.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=)
5g.177292010A>GCA447740702NSD1c.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
5g.177292010A>TCA447740703NSD1c.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=)
5g.177292012delCA891842457NSD1c.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
5g.177292011A>CCA362320315NSD1c.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)
5g.177292011A>GCA362320317NSD1c.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)
5g.177292011A>TCA362320321NSD1c.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)
5g.177292012A=CA1603532754NSD1c.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=)
5g.177292012A>CCA362320329NSD1c.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)
5g.177292012A>GCA362320324NSD1c.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)
5g.177292012A>TCA3577977NSD1c.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
5g.177292013G>ACA447740705NSD1c.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=)
5g.177292013G>CCA362320332NSD1c.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)
5g.177292013G>TCA362320333NSD1c.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)
5g.177292014C>ACA362320337NSD1c.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)
5g.177292014C=CA1603532757NSD1c.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=)
5g.177292014C>GCA362320340NSD1c.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
5g.177292014C>TCA362320341NSD1c.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
5g.177292015G>ACA362320344NSD1c.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
5g.177292015G>CCA362320348NSD1c.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)
5g.177292015G=CA1603532763NSD1c.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=)
5g.177292015G>TCA362320345NSD1c.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)
5g.177292016C>ACA447740706NSD1c.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=)
5g.177292016C>GCA447740707NSD1c.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=)
5g.177292016C>TCA447740708NSD1c.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=)
5g.177292017A>CCA447740709NSD1c.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=)
5g.177292017A>GCA362320350NSD1c.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)
5g.177292017A>TCA362320351NSD1c.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)
5g.177292018G>ACA362320354NSD1c.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
5g.177292018G>CCA362320357NSD1c.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)
5g.177292018G>TCA362320360NSD1c.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)
5g.177292019delCA645548642NSD1c.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
5g.177292019G>ACA447740711NSD1c.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
5g.177292019G>CCA362320363NSD1c.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)
5g.177292019G=CA1603532781NSD1c.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=)
5g.177292019G>TCA362320366NSD1c.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)
5g.177292020A>CCA362320368NSD1c.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)
5g.177292020A>GCA362320372NSD1c.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)
5g.177292020A>TCA362320373NSD1c.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)
5g.177292021C>ACA362320376NSD1c.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)
5g.177292021C>GCA362320381NSD1c.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
5g.177292021C>TCA362320379NSD1c.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
5g.177292022C>ACA447740715NSD1c.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=)
5g.177292022C=CA1603532783NSD1c.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=)
5g.177292022C>GCA447740716NSD1c.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
5g.177292022C>TCA447740718NSD1c.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=)
5g.177292023C>ACA362320384NSD1c.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)
5g.177292023C=CA1603532791NSD1c.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=)
5g.177292023C>GCA362320390NSD1c.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)
5g.177292023C>TCA362320387NSD1c.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
5g.177292024A=CA1603532798NSD1c.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=)
5g.177292024A>CCA362320393NSD1c.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)
5g.177292024A>GCA3577978NSD1c.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
5g.177292024A>TCA362320397NSD1c.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
5g.177292025G>ACA447740719NSD1c.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=)
5g.177292025G>CCA362320400NSD1c.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)
5g.177292025G>TCA362320402NSD1c.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)
5g.177292026G>ACA362320405NSD1c.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)
5g.177292026G>CCA362320410NSD1c.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)
5g.177292026G=CA1603532801NSD1c.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=)
5g.177292026G>TCA362320408NSD1c.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
5g.177292027G>ACA362320414NSD1c.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
5g.177292027G>CCA362320417NSD1c.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)
5g.177292027G>TCA362320419NSD1c.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)

Number of alleles fetched