Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.57568915C>ACA2575203732KIF5Ac.715-48C>A (n.715-48C>A)
c.610-48C>A (n.610-48C>A)
c.448-48C>A (n.448-48C>A)
n.948-48C>A
gnomAD v4
12g.57568915C=CA2038924698KIF5Ac.715-48C= (n.715-48C=)
c.610-48C= (n.610-48C=)
c.448-48C= (n.448-48C=)
n.948-48C=
12g.57568915C>TCA605311283KIF5Ac.715-48C>T (n.715-48C>T)
c.610-48C>T (n.610-48C>T)
c.448-48C>T (n.448-48C>T)
n.948-48C>T
dbSNP gnomAD v2 gnomAD v4
12g.57568917C>ACA605311292KIF5Ac.715-46C>A (n.715-46C>A)
c.610-46C>A (n.610-46C>A)
c.448-46C>A (n.448-46C>A)
n.948-46C>A
dbSNP gnomAD v2 gnomAD v4
12g.57568917C=CA2038924746KIF5Ac.715-46C= (n.715-46C=)
c.610-46C= (n.610-46C=)
c.448-46C= (n.448-46C=)
n.948-46C=
12g.57568917C>GCA605311294KIF5Ac.715-46C>G (n.715-46C>G)
c.610-46C>G (n.610-46C>G)
c.448-46C>G (n.448-46C>G)
n.948-46C>G
dbSNP gnomAD v2 gnomAD v4
12g.57568917C>TCA948105195KIF5Ac.715-46C>T (n.715-46C>T)
c.610-46C>T (n.610-46C>T)
c.448-46C>T (n.448-46C>T)
n.948-46C>T
dbSNP gnomAD v3 gnomAD v4
12g.57568918C>ACA2619471495KIF5Ac.715-45C>A (n.715-45C>A)
c.610-45C>A (n.610-45C>A)
c.448-45C>A (n.448-45C>A)
n.948-45C>A
gnomAD v4
12g.57568920T>ACA690303390KIF5Ac.715-43T>A (n.715-43T>A)
c.610-43T>A (n.610-43T>A)
c.448-43T>A (n.448-43T>A)
n.948-43T>A
dbSNP
12g.57568920T>CCA2619471503KIF5Ac.715-43T>C (n.715-43T>C)
c.610-43T>C (n.610-43T>C)
c.448-43T>C (n.448-43T>C)
n.948-43T>C
gnomAD v4
12g.57568920T=CA2038924752KIF5Ac.715-43T= (n.715-43T=)
c.610-43T= (n.610-43T=)
c.448-43T= (n.448-43T=)
n.948-43T=
12g.57568921G>TCA654930482KIF5Ac.715-42G>T (n.715-42G>T)
c.610-42G>T (n.610-42G>T)
c.448-42G>T (n.448-42G>T)
n.948-42G>T
gnomAD v4 COSMIC
12g.57568922T>ACA2619471511KIF5Ac.715-41T>A (n.715-41T>A)
c.610-41T>A (n.610-41T>A)
c.448-41T>A (n.448-41T>A)
n.948-41T>A
gnomAD v4
12g.57568922T>CCA6652668KIF5Ac.715-41T>C (n.715-41T>C)
c.610-41T>C (n.610-41T>C)
c.448-41T>C (n.448-41T>C)
n.948-41T>C
dbSNP ExAC gnomAD v2 gnomAD v4
12g.57568922T>GCA2038924757KIF5Ac.715-41T>G (n.715-41T>G)
c.610-41T>G (n.610-41T>G)
c.448-41T>G (n.448-41T>G)
n.948-41T>G
dbSNP gnomAD v4
12g.57568922T=CA2038924753KIF5Ac.715-41T= (n.715-41T=)
c.610-41T= (n.610-41T=)
c.448-41T= (n.448-41T=)
n.948-41T=
12g.57568923G>ACA237783079KIF5Ac.715-40G>A (n.715-40G>A)
c.610-40G>A (n.610-40G>A)
c.448-40G>A (n.448-40G>A)
n.948-40G>A
dbSNP gnomAD v4
12g.57568923G>CCA6652669KIF5Ac.715-40G>C (n.715-40G>C)
c.610-40G>C (n.610-40G>C)
c.448-40G>C (n.448-40G>C)
n.948-40G>C
dbSNP ExAC gnomAD v2 gnomAD v4
12g.57568923G=CA2038924766KIF5Ac.715-40G= (n.715-40G=)
c.610-40G= (n.610-40G=)
c.448-40G= (n.448-40G=)
n.948-40G=
12g.57568923G>TCA948105196KIF5Ac.715-40G>T (n.715-40G>T)
c.610-40G>T (n.610-40G>T)
c.448-40G>T (n.448-40G>T)
n.948-40G>T
dbSNP gnomAD v3 gnomAD v4
12g.57568924C>ACA2575203734KIF5Ac.715-39C>A (n.715-39C>A)
c.610-39C>A (n.610-39C>A)
c.448-39C>A (n.448-39C>A)
n.948-39C>A
gnomAD v4
12g.57568924C>GCA2796144859KIF5Ac.715-39C>G (n.715-39C>G)
c.610-39C>G (n.610-39C>G)
c.448-39C>G (n.448-39C>G)
n.948-39C>G
12g.57568924C>TCA2575203733KIF5Ac.715-39C>T (n.715-39C>T)
c.610-39C>T (n.610-39C>T)
c.448-39C>T (n.448-39C>T)
n.948-39C>T
gnomAD v4
12g.57568926G>TCA2619471519KIF5Ac.715-37G>T (n.715-37G>T)
c.610-37G>T (n.610-37G>T)
c.448-37G>T (n.448-37G>T)
n.948-37G>T
gnomAD v4
12g.57568927C>ACA2619471521KIF5Ac.715-36C>A (n.715-36C>A)
c.610-36C>A (n.610-36C>A)
c.448-36C>A (n.448-36C>A)
n.948-36C>A
gnomAD v4
12g.57568928T>GCA2575203735KIF5Ac.715-35T>G (n.715-35T>G)
c.610-35T>G (n.610-35T>G)
c.448-35T>G (n.448-35T>G)
n.948-35T>G
12g.57568929G>ACA2619471524KIF5Ac.715-34G>A (n.715-34G>A)
c.610-34G>A (n.610-34G>A)
c.448-34G>A (n.448-34G>A)
n.948-34G>A
gnomAD v4
12g.57568929G>CCA237783090KIF5Ac.715-34G>C (n.715-34G>C)
c.610-34G>C (n.610-34G>C)
c.448-34G>C (n.448-34G>C)
n.948-34G>C
dbSNP gnomAD v3 gnomAD v4
12g.57568929G=CA2038924774KIF5Ac.715-34G= (n.715-34G=)
c.610-34G= (n.610-34G=)
c.448-34G= (n.448-34G=)
n.948-34G=
12g.57568930C>ACA2575203736KIF5Ac.715-33C>A (n.715-33C>A)
c.610-33C>A (n.610-33C>A)
c.448-33C>A (n.448-33C>A)
n.948-33C>A
gnomAD v4
12g.57568930C>TCA2619471528KIF5Ac.715-33C>T (n.715-33C>T)
c.610-33C>T (n.610-33C>T)
c.448-33C>T (n.448-33C>T)
n.948-33C>T
gnomAD v4
12g.57568932C>ACA2619471537KIF5Ac.715-31C>A (n.715-31C>A)
c.610-31C>A (n.610-31C>A)
c.448-31C>A (n.448-31C>A)
n.948-31C>A
gnomAD v4
12g.57568932C=CA2038924780KIF5Ac.715-31C= (n.715-31C=)
c.610-31C= (n.610-31C=)
c.448-31C= (n.448-31C=)
n.948-31C=
12g.57568932C>GCA654930485KIF5Ac.715-31C>G (n.715-31C>G)
c.610-31C>G (n.610-31C>G)
c.448-31C>G (n.448-31C>G)
n.948-31C>G
COSMIC
12g.57568932C>TCA2038924782KIF5Ac.715-31C>T (n.715-31C>T)
c.610-31C>T (n.610-31C>T)
c.448-31C>T (n.448-31C>T)
n.948-31C>T
dbSNP gnomAD v4
12g.57568935A=CA2038924787KIF5Ac.715-28A= (n.715-28A=)
c.610-28A= (n.610-28A=)
c.448-28A= (n.448-28A=)
n.948-28A=
12g.57568935A>GCA690303394KIF5Ac.715-28A>G (n.715-28A>G)
c.610-28A>G (n.610-28A>G)
c.448-28A>G (n.448-28A>G)
n.948-28A>G
dbSNP
12g.57568935A>TCA2619471541KIF5Ac.715-28A>T (n.715-28A>T)
c.610-28A>T (n.610-28A>T)
c.448-28A>T (n.448-28A>T)
n.948-28A>T
gnomAD v4
12g.57568936C>ACA2619471542KIF5Ac.715-27C>A (n.715-27C>A)
c.610-27C>A (n.610-27C>A)
c.448-27C>A (n.448-27C>A)
n.948-27C>A
gnomAD v4
12g.57568936C=CA2038924789KIF5Ac.715-27C= (n.715-27C=)
c.610-27C= (n.610-27C=)
c.448-27C= (n.448-27C=)
n.948-27C=
12g.57568936C>TCA605311302KIF5Ac.715-27C>T (n.715-27C>T)
c.610-27C>T (n.610-27C>T)
c.448-27C>T (n.448-27C>T)
n.948-27C>T
dbSNP gnomAD v2 gnomAD v4
12g.57568937A=CA2038924795KIF5Ac.715-26A= (n.715-26A=)
c.610-26A= (n.610-26A=)
c.448-26A= (n.448-26A=)
n.948-26A=
12g.57568937A>CCA2619471544KIF5Ac.715-26A>C (n.715-26A>C)
c.610-26A>C (n.610-26A>C)
c.448-26A>C (n.448-26A>C)
n.948-26A>C
gnomAD v4
12g.57568937A>GCA2038924798KIF5Ac.715-26A>G (n.715-26A>G)
c.610-26A>G (n.610-26A>G)
c.448-26A>G (n.448-26A>G)
n.948-26A>G
dbSNP
12g.57568938C>ACA2575203737KIF5Ac.715-25C>A (n.715-25C>A)
c.610-25C>A (n.610-25C>A)
c.448-25C>A (n.448-25C>A)
n.948-25C>A
gnomAD v4
12g.57568938C=CA2038924803KIF5Ac.715-25C= (n.715-25C=)
c.610-25C= (n.610-25C=)
c.448-25C= (n.448-25C=)
n.948-25C=
12g.57568938C>TCA948105199KIF5Ac.715-25C>T (n.715-25C>T)
c.610-25C>T (n.610-25C>T)
c.448-25C>T (n.448-25C>T)
n.948-25C>T
dbSNP gnomAD v3 gnomAD v4
12g.57568939A>GCA2619471550KIF5Ac.715-24A>G (n.715-24A>G)
c.610-24A>G (n.610-24A>G)
c.448-24A>G (n.448-24A>G)
n.948-24A>G
gnomAD v4
12g.57568939A>TCA2796144860KIF5Ac.715-24A>T (n.715-24A>T)
c.610-24A>T (n.610-24A>T)
c.448-24A>T (n.448-24A>T)
n.948-24A>T
12g.57568940C>ACA2038924810KIF5Ac.715-23C>A (n.715-23C>A)
c.610-23C>A (n.610-23C>A)
c.448-23C>A (n.448-23C>A)
n.948-23C>A
dbSNP gnomAD v4
12g.57568940C=CA2038924808KIF5Ac.715-23C= (n.715-23C=)
c.610-23C= (n.610-23C=)
c.448-23C= (n.448-23C=)
n.948-23C=
12g.57568940C>GCA480263889KIF5Ac.715-23C>G (n.715-23C>G)
c.610-23C>G (n.610-23C>G)
c.448-23C>G (n.448-23C>G)
n.948-23C>G
dbSNP
12g.57568940C>TCA690303395KIF5Ac.715-23C>T (n.715-23C>T)
c.610-23C>T (n.610-23C>T)
c.448-23C>T (n.448-23C>T)
n.948-23C>T
dbSNP gnomAD v3 gnomAD v4
12g.57568941T>CCA2619471555KIF5Ac.715-22T>C (n.715-22T>C)
c.610-22T>C (n.610-22T>C)
c.448-22T>C (n.448-22T>C)
n.948-22T>C
gnomAD v4
12g.57568942C>ACA2619471558KIF5Ac.715-21C>A (n.715-21C>A)
c.610-21C>A (n.610-21C>A)
c.448-21C>A (n.448-21C>A)
n.948-21C>A
gnomAD v4
12g.57568942C>GCA2619471560KIF5Ac.715-21C>G (n.715-21C>G)
c.610-21C>G (n.610-21C>G)
c.448-21C>G (n.448-21C>G)
n.948-21C>G
gnomAD v4
12g.57568942C>TCA2619471559KIF5Ac.715-21C>T (n.715-21C>T)
c.610-21C>T (n.610-21C>T)
c.448-21C>T (n.448-21C>T)
n.948-21C>T
gnomAD v4
12g.57568943A=CA2038924818KIF5Ac.715-20A= (n.715-20A=)
c.610-20A= (n.610-20A=)
c.448-20A= (n.448-20A=)
n.948-20A=
12g.57568943A>GCA6652670KIF5Ac.715-20A>G (n.715-20A>G)
c.610-20A>G (n.610-20A>G)
c.448-20A>G (n.448-20A>G)
n.948-20A>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.57568944T>ACA2619471568KIF5Ac.715-19T>A (n.715-19T>A)
c.610-19T>A (n.610-19T>A)
c.448-19T>A (n.448-19T>A)
n.948-19T>A
gnomAD v4
12g.57568944T>CCA2619471572KIF5Ac.715-19T>C (n.715-19T>C)
c.610-19T>C (n.610-19T>C)
c.448-19T>C (n.448-19T>C)
n.948-19T>C
gnomAD v4
12g.57568945C>ACA2619471575KIF5Ac.715-18C>A (n.715-18C>A)
c.610-18C>A (n.610-18C>A)
c.448-18C>A (n.448-18C>A)
n.948-18C>A
gnomAD v4
12g.57568945C=CA2038924826KIF5Ac.715-18C= (n.715-18C=)
c.610-18C= (n.610-18C=)
c.448-18C= (n.448-18C=)
n.948-18C=
12g.57568945C>GCA2038924830KIF5Ac.715-18C>G (n.715-18C>G)
c.610-18C>G (n.610-18C>G)
c.448-18C>G (n.448-18C>G)
n.948-18C>G
dbSNP
12g.57568947C>ACA2619471577KIF5Ac.715-16C>A (n.715-16C>A)
c.610-16C>A (n.610-16C>A)
c.448-16C>A (n.448-16C>A)
n.948-16C>A
gnomAD v4
12g.57568947C=CA2038924832KIF5Ac.715-16C= (n.715-16C=)
c.610-16C= (n.610-16C=)
c.448-16C= (n.448-16C=)
n.948-16C=
12g.57568947C>TCA6652671KIF5Ac.715-16C>T (n.715-16C>T)
c.610-16C>T (n.610-16C>T)
c.448-16C>T (n.448-16C>T)
n.948-16C>T
dbSNP ExAC gnomAD v2 gnomAD v4
12g.57568948T>CCA948105206KIF5Ac.715-15T>C (n.715-15T>C)
c.610-15T>C (n.610-15T>C)
c.448-15T>C (n.448-15T>C)
n.948-15T>C
dbSNP gnomAD v3 gnomAD v4
12g.57568948T=CA2038924836KIF5Ac.715-15T= (n.715-15T=)
c.610-15T= (n.610-15T=)
c.448-15T= (n.448-15T=)
n.948-15T=
12g.57568949T>CCA2619471586KIF5Ac.715-14T>C (n.715-14T>C)
c.610-14T>C (n.610-14T>C)
c.448-14T>C (n.448-14T>C)
n.948-14T>C
gnomAD v4
12g.57568950A>GCA2619471588KIF5Ac.715-13A>G (n.715-13A>G)
c.610-13A>G (n.610-13A>G)
c.448-13A>G (n.448-13A>G)
n.948-13A>G
gnomAD v4
12g.57568950A>TCA2619471591KIF5Ac.715-13A>T (n.715-13A>T)
c.610-13A>T (n.610-13A>T)
c.448-13A>T (n.448-13A>T)
n.948-13A>T
gnomAD v4
12g.57568951C>ACA2619471597KIF5Ac.715-12C>A (n.715-12C>A)
c.610-12C>A (n.610-12C>A)
c.448-12C>A (n.448-12C>A)
n.948-12C>A
gnomAD v4
12g.57568952T>GCA2573148855KIF5Ac.715-11T>G (n.715-11T>G)
c.610-11T>G (n.610-11T>G)
c.448-11T>G (n.448-11T>G)
n.948-11T>G
ClinVar dbSNP
12g.57568953G>TCA2619471601KIF5Ac.715-10G>T (n.715-10G>T)
c.610-10G>T (n.610-10G>T)
c.448-10G>T (n.448-10G>T)
n.948-10G>T
gnomAD v4
12g.57568954C>ACA1139662758KIF5Ac.715-9C>A (n.715-9C>A)
c.610-9C>A (n.610-9C>A)
c.448-9C>A (n.448-9C>A)
n.948-9C>A
ClinVar dbSNP gnomAD v4
12g.57568954C=CA2038924839KIF5Ac.715-9C= (n.715-9C=)
c.610-9C= (n.610-9C=)
c.448-9C= (n.448-9C=)
n.948-9C=
12g.57568954C>TCA2619471608KIF5Ac.715-9C>T (n.715-9C>T)
c.610-9C>T (n.610-9C>T)
c.448-9C>T (n.448-9C>T)
n.948-9C>T
gnomAD v4
12g.57568955C>ACA2575203738KIF5Ac.715-8C>A (n.715-8C>A)
c.610-8C>A (n.610-8C>A)
c.448-8C>A (n.448-8C>A)
n.948-8C>A
gnomAD v4
12g.57568955C>GCA2619471610KIF5Ac.715-8C>G (n.715-8C>G)
c.610-8C>G (n.610-8C>G)
c.448-8C>G (n.448-8C>G)
n.948-8C>G
gnomAD v4
12g.57568956C>GCA2575203739KIF5Ac.715-7C>G (n.715-7C>G)
c.610-7C>G (n.610-7C>G)
c.448-7C>G (n.448-7C>G)
n.948-7C>G
12g.57568956C>TCA2619471616KIF5Ac.715-7C>T (n.715-7C>T)
c.610-7C>T (n.610-7C>T)
c.448-7C>T (n.448-7C>T)
n.948-7C>T
gnomAD v4
12g.57568957T>ACA2619471641KIF5Ac.715-6T>A (n.715-6T>A)
c.610-6T>A (n.610-6T>A)
c.448-6T>A (n.448-6T>A)
n.948-6T>A
gnomAD v4
12g.57568958G>ACA2619471645KIF5Ac.715-5G>A (n.715-5G>A)
c.610-5G>A (n.610-5G>A)
c.448-5G>A (n.448-5G>A)
n.948-5G>A
gnomAD v4
12g.57568959G>ACA2619471647KIF5Ac.715-4G>A (n.715-4G>A)
c.610-4G>A (n.610-4G>A)
c.448-4G>A (n.448-4G>A)
n.948-4G>A
gnomAD v4
12g.57568959G>CCA2038924844KIF5Ac.715-4G>C (n.715-4G>C)
c.610-4G>C (n.610-4G>C)
c.448-4G>C (n.448-4G>C)
n.948-4G>C
dbSNP gnomAD v4
12g.57568959G=CA2038924842KIF5Ac.715-4G= (n.715-4G=)
c.610-4G= (n.610-4G=)
c.448-4G= (n.448-4G=)
n.948-4G=
12g.57568961A>CCA385499763KIF5Ac.715-2A>C (n.715-2A>C)
c.610-2A>C (n.610-2A>C)
c.448-2A>C (n.448-2A>C)
n.948-2A>C
12g.57568961A>GCA385499758KIF5Ac.715-2A>G (n.715-2A>G)
c.610-2A>G (n.610-2A>G)
c.448-2A>G (n.448-2A>G)
n.948-2A>G
12g.57568961A>TCA385499761KIF5Ac.715-2A>T (n.715-2A>T)
c.610-2A>T (n.610-2A>T)
c.448-2A>T (n.448-2A>T)
n.948-2A>T
12g.57568962G>ACA385499766KIF5Ac.715-1G>A (n.715-1G>A)
c.610-1G>A (n.610-1G>A)
c.448-1G>A (n.448-1G>A)
n.948-1G>A
12g.57568962G>CCA385499768KIF5Ac.715-1G>C (n.715-1G>C)
c.610-1G>C (n.610-1G>C)
c.448-1G>C (n.448-1G>C)
n.948-1G>C
12g.57568962G>TCA385499769KIF5Ac.715-1G>T (n.715-1G>T)
c.610-1G>T (n.610-1G>T)
c.448-1G>T (n.448-1G>T)
n.948-1G>T
gnomAD v4 COSMIC
12g.57568963G>ACA385499776KIF5Ac.715G>A (p.Val239Ile)
c.610G>A (p.Val204Ile)
c.448G>A (p.Val150Ile)
n.948G>A
12g.57568963G>CCA385499774KIF5Ac.715G>C (p.Val239Leu)
c.610G>C (p.Val204Leu)
c.448G>C (p.Val150Leu)
n.948G>C
12g.57568963G>TCA385499773KIF5Ac.715G>T (p.Val239Phe)
c.610G>T (p.Val204Phe)
c.448G>T (p.Val150Phe)
n.948G>T
12g.57568964T>ACA385499778KIF5Ac.716T>A (p.Val239Asp)
c.611T>A (p.Val204Asp)
c.449T>A (p.Val150Asp)
n.949T>A
12g.57568964T>CCA385499780KIF5Ac.716T>C (p.Val239Ala)
c.611T>C (p.Val204Ala)
c.449T>C (p.Val150Ala)
n.949T>C
gnomAD v4
12g.57568964T>GCA385499783KIF5Ac.716T>G (p.Val239Gly)
c.611T>G (p.Val204Gly)
c.449T>G (p.Val150Gly)
n.949T>G
12g.57568965C>ACA480263890KIF5Ac.717C>A (p.Val239=)
c.612C>A (p.Val204=)
c.450C>A (p.Val150=)
n.950C>A
12g.57568965C>GCA480263891KIF5Ac.717C>G (p.Val239=)
c.612C>G (p.Val204=)
c.450C>G (p.Val150=)
n.950C>G
12g.57568965C>TCA480263892KIF5Ac.717C>T (p.Val239=)
c.612C>T (p.Val204=)
c.450C>T (p.Val150=)
n.950C>T
gnomAD v4
12g.57568966A>CCA385499785KIF5Ac.718A>C (p.Ser240Arg)
c.613A>C (p.Ser205Arg)
c.451A>C (p.Ser151Arg)
n.951A>C
12g.57568966A>GCA385499787KIF5Ac.718A>G (p.Ser240Gly)
c.613A>G (p.Ser205Gly)
c.451A>G (p.Ser151Gly)
n.951A>G
12g.57568966A>TCA385499789KIF5Ac.718A>T (p.Ser240Cys)
c.613A>T (p.Ser205Cys)
c.451A>T (p.Ser151Cys)
n.951A>T
12g.57568967G>ACA385499796KIF5Ac.719G>A (p.Ser240Asn)
c.614G>A (p.Ser205Asn)
c.452G>A (p.Ser151Asn)
n.952G>A
12g.57568967G>CCA385499793KIF5Ac.719G>C (p.Ser240Thr)
c.614G>C (p.Ser205Thr)
c.452G>C (p.Ser151Thr)
n.952G>C
12g.57568967G>TCA385499795KIF5Ac.719G>T (p.Ser240Ile)
c.614G>T (p.Ser205Ile)
c.452G>T (p.Ser151Ile)
n.952G>T
ClinVar dbSNP
12g.57568968C>ACA385499798KIF5Ac.720C>A (p.Ser240Arg)
c.615C>A (p.Ser205Arg)
c.453C>A (p.Ser151Arg)
n.953C>A
12g.57568968C>GCA385499800KIF5Ac.720C>G (p.Ser240Arg)
c.615C>G (p.Ser205Arg)
c.453C>G (p.Ser151Arg)
n.953C>G
12g.57568968C>TCA480263893KIF5Ac.720C>T (p.Ser240=)
c.615C>T (p.Ser205=)
c.453C>T (p.Ser151=)
n.953C>T
gnomAD v4
12g.57568969A>CCA385499804KIF5Ac.721A>C (p.Lys241Gln)
c.616A>C (p.Lys206Gln)
c.454A>C (p.Lys152Gln)
n.954A>C
12g.57568969A>GCA385499806KIF5Ac.721A>G (p.Lys241Glu)
c.616A>G (p.Lys206Glu)
c.454A>G (p.Lys152Glu)
n.954A>G
12g.57568969A>TCA385499807KIF5Ac.721A>T (p.Lys241Ter)
c.616A>T (p.Lys206Ter)
c.454A>T (p.Lys152Ter)
n.954A>T
12g.57568970A>CCA385499810KIF5Ac.722A>C (p.Lys241Thr)
c.617A>C (p.Lys206Thr)
c.455A>C (p.Lys152Thr)
n.955A>C
12g.57568970A>GCA385499813KIF5Ac.722A>G (p.Lys241Arg)
c.617A>G (p.Lys206Arg)
c.455A>G (p.Lys152Arg)
n.955A>G
ClinVar dbSNP
12g.57568970A>TCA385499815KIF5Ac.722A>T (p.Lys241Met)
c.617A>T (p.Lys206Met)
c.455A>T (p.Lys152Met)
n.955A>T
12g.57568971G>ACA480263894KIF5Ac.723G>A (p.Lys241=)
c.618G>A (p.Lys206=)
c.456G>A (p.Lys152=)
n.956G>A
12g.57568971G>CCA385499817KIF5Ac.723G>C (p.Lys241Asn)
c.618G>C (p.Lys206Asn)
c.456G>C (p.Lys152Asn)
n.956G>C
12g.57568971G>TCA385499820KIF5Ac.723G>T (p.Lys241Asn)
c.618G>T (p.Lys206Asn)
c.456G>T (p.Lys152Asn)
n.956G>T
gnomAD v4
12g.57568972A>CCA385499823KIF5Ac.724A>C (p.Thr242Pro)
c.619A>C (p.Thr207Pro)
c.457A>C (p.Thr153Pro)
n.957A>C
12g.57568972A>GCA385499825KIF5Ac.724A>G (p.Thr242Ala)
c.619A>G (p.Thr207Ala)
c.457A>G (p.Thr153Ala)
n.957A>G
12g.57568972A>TCA385499827KIF5Ac.724A>T (p.Thr242Ser)
c.619A>T (p.Thr207Ser)
c.457A>T (p.Thr153Ser)
n.957A>T
12g.57568973C>ACA385499830KIF5Ac.725C>A (p.Thr242Asn)
c.620C>A (p.Thr207Asn)
c.458C>A (p.Thr153Asn)
n.958C>A
12g.57568973C>GCA385499835KIF5Ac.725C>G (p.Thr242Ser)
c.620C>G (p.Thr207Ser)
c.458C>G (p.Thr153Ser)
n.958C>G
12g.57568973C>TCA385499833KIF5Ac.725C>T (p.Thr242Ile)
c.620C>T (p.Thr207Ile)
c.458C>T (p.Thr153Ile)
n.958C>T
12g.57568974T>ACA480263895KIF5Ac.726T>A (p.Thr242=)
c.621T>A (p.Thr207=)
c.459T>A (p.Thr153=)
n.959T>A
12g.57568974T>CCA480263896KIF5Ac.726T>C (p.Thr242=)
c.621T>C (p.Thr207=)
c.459T>C (p.Thr153=)
n.959T>C
gnomAD v4
12g.57568974T>GCA480263897KIF5Ac.726T>G (p.Thr242=)
c.621T>G (p.Thr207=)
c.459T>G (p.Thr153=)
n.959T>G
12g.57568975G>ACA385499837KIF5Ac.727G>A (p.Gly243Arg)
c.622G>A (p.Gly208Arg)
c.460G>A (p.Gly154Arg)
n.960G>A
gnomAD v4
12g.57568975G>CCA385499839KIF5Ac.727G>C (p.Gly243Arg)
c.622G>C (p.Gly208Arg)
c.460G>C (p.Gly154Arg)
n.960G>C
12g.57568975G>TCA385499842KIF5Ac.727G>T (p.Gly243Ter)
c.622G>T (p.Gly208Ter)
c.460G>T (p.Gly154Ter)
n.960G>T
12g.57568976G>ACA385499845KIF5Ac.728G>A (p.Gly243Glu)
c.623G>A (p.Gly208Glu)
c.461G>A (p.Gly154Glu)
n.961G>A
ClinVar dbSNP
12g.57568976G>CCA385499847KIF5Ac.728G>C (p.Gly243Ala)
c.623G>C (p.Gly208Ala)
c.461G>C (p.Gly154Ala)
n.961G>C
12g.57568976G>TCA385499850KIF5Ac.728G>T (p.Gly243Val)
c.623G>T (p.Gly208Val)
c.461G>T (p.Gly154Val)
n.961G>T
gnomAD v4
12g.57568977A=CA2038924851KIF5Ac.729A= (p.Gly243=)
c.624A= (p.Gly208=)
c.462A= (p.Gly154=)
n.962A=
12g.57568977A>CCA480263898KIF5Ac.729A>C (p.Gly243=)
c.624A>C (p.Gly208=)
c.462A>C (p.Gly154=)
n.962A>C
12g.57568977A>GCA480263899KIF5Ac.729A>G (p.Gly243=)
c.624A>G (p.Gly208=)
c.462A>G (p.Gly154=)
n.962A>G
12g.57568977A>TCA6652672KIF5Ac.729A>T (p.Gly243=)
c.624A>T (p.Gly208=)
c.462A>T (p.Gly154=)
n.962A>T
dbSNP ExAC gnomAD v2 gnomAD v4
12g.57568978G>ACA385499855KIF5Ac.730G>A (p.Ala244Thr)
c.625G>A (p.Ala209Thr)
c.463G>A (p.Ala155Thr)
n.963G>A
12g.57568978G>CCA385499856KIF5Ac.730G>C (p.Ala244Pro)
c.625G>C (p.Ala209Pro)
c.463G>C (p.Ala155Pro)
n.963G>C
ClinVar dbSNP
12g.57568978G=CA2038924860KIF5Ac.730G= (p.Ala244=)
c.625G= (p.Ala209=)
c.463G= (p.Ala155=)
n.963G=
12g.57568978G>TCA385499859KIF5Ac.730G>T (p.Ala244Ser)
c.625G>T (p.Ala209Ser)
c.463G>T (p.Ala155Ser)
n.963G>T
12g.57568978_57568979delinsAACA2573148856KIF5Ac.730_731delinsAA (p.Ala244Lys)
c.625_626delinsAA (p.Ala209Lys)
c.463_464delinsAA (p.Ala155Lys)
n.963_964delinsAA
ClinVar dbSNP
12g.57568979C>ACA385499862KIF5Ac.731C>A (p.Ala244Glu)
c.626C>A (p.Ala209Glu)
c.464C>A (p.Ala155Glu)
n.964C>A
12g.57568979C>GCA385499864KIF5Ac.731C>G (p.Ala244Gly)
c.626C>G (p.Ala209Gly)
c.464C>G (p.Ala155Gly)
n.964C>G
12g.57568979C>TCA385499865KIF5Ac.731C>T (p.Ala244Val)
c.626C>T (p.Ala209Val)
c.464C>T (p.Ala155Val)
n.964C>T
12g.57568980A>CCA480263902KIF5Ac.732A>C (p.Ala244=)
c.627A>C (p.Ala209=)
c.465A>C (p.Ala155=)
n.965A>C
gnomAD v4
12g.57568980A>GCA480263901KIF5Ac.732A>G (p.Ala244=)
c.627A>G (p.Ala209=)
c.465A>G (p.Ala155=)
n.965A>G
12g.57568980A>TCA480263900KIF5Ac.732A>T (p.Ala244=)
c.627A>T (p.Ala209=)
c.465A>T (p.Ala155=)
n.965A>T
12g.57568981G>ACA385499872KIF5Ac.733G>A (p.Glu245Lys)
c.628G>A (p.Glu210Lys)
c.466G>A (p.Glu156Lys)
n.966G>A
12g.57568981G>CCA385499868KIF5Ac.733G>C (p.Glu245Gln)
c.628G>C (p.Glu210Gln)
c.466G>C (p.Glu156Gln)
n.966G>C
gnomAD v4
12g.57568981G>TCA385499870KIF5Ac.733G>T (p.Glu245Ter)
c.628G>T (p.Glu210Ter)
c.466G>T (p.Glu156Ter)
n.966G>T
12g.57568982A>CCA385499875KIF5Ac.734A>C (p.Glu245Ala)
c.629A>C (p.Glu210Ala)
c.467A>C (p.Glu156Ala)
n.967A>C
12g.57568982A>GCA385499877KIF5Ac.734A>G (p.Glu245Gly)
c.629A>G (p.Glu210Gly)
c.467A>G (p.Glu156Gly)
n.967A>G
12g.57568982A>TCA385499878KIF5Ac.734A>T (p.Glu245Val)
c.629A>T (p.Glu210Val)
c.467A>T (p.Glu156Val)
n.967A>T
12g.57568983G>ACA480263903KIF5Ac.735G>A (p.Glu245=)
c.630G>A (p.Glu210=)
c.468G>A (p.Glu156=)
n.968G>A
ClinVar
12g.57568983G>CCA385499881KIF5Ac.735G>C (p.Glu245Asp)
c.630G>C (p.Glu210Asp)
c.468G>C (p.Glu156Asp)
n.968G>C
12g.57568983G>TCA385499883KIF5Ac.735G>T (p.Glu245Asp)
c.630G>T (p.Glu210Asp)
c.468G>T (p.Glu156Asp)
n.968G>T
gnomAD v4
12g.57568984G>ACA385499885KIF5Ac.736G>A (p.Gly246Arg)
c.631G>A (p.Gly211Arg)
c.469G>A (p.Gly157Arg)
n.969G>A
12g.57568984G>CCA385499892KIF5Ac.736G>C (p.Gly246Arg)
c.631G>C (p.Gly211Arg)
c.469G>C (p.Gly157Arg)
n.969G>C
12g.57568984G>TCA385499894KIF5Ac.736G>T (p.Gly246Ter)
c.631G>T (p.Gly211Ter)
c.469G>T (p.Gly157Ter)
n.969G>T
12g.57568985G>ACA385499897KIF5Ac.737G>A (p.Gly246Glu)
c.632G>A (p.Gly211Glu)
c.470G>A (p.Gly157Glu)
n.970G>A
12g.57568985G>CCA385499899KIF5Ac.737G>C (p.Gly246Ala)
c.632G>C (p.Gly211Ala)
c.470G>C (p.Gly157Ala)
n.970G>C
12g.57568985G>TCA385499901KIF5Ac.737G>T (p.Gly246Val)
c.632G>T (p.Gly211Val)
c.470G>T (p.Gly157Val)
n.970G>T
ClinVar
12g.57568986A>CCA480263904KIF5Ac.738A>C (p.Gly246=)
c.633A>C (p.Gly211=)
c.471A>C (p.Gly157=)
n.971A>C
12g.57568986A>GCA480263906KIF5Ac.738A>G (p.Gly246=)
c.633A>G (p.Gly211=)
c.471A>G (p.Gly157=)
n.971A>G
12g.57568986A>TCA480263905KIF5Ac.738A>T (p.Gly246=)
c.633A>T (p.Gly211=)
c.471A>T (p.Gly157=)
n.971A>T
12g.57568987G>ACA385499908KIF5Ac.739G>A (p.Ala247Thr)
c.634G>A (p.Ala212Thr)
c.472G>A (p.Ala158Thr)
n.972G>A
gnomAD v4
12g.57568987G>CCA385499904KIF5Ac.739G>C (p.Ala247Pro)
c.634G>C (p.Ala212Pro)
c.472G>C (p.Ala158Pro)
n.972G>C
12g.57568987G>TCA385499906KIF5Ac.739G>T (p.Ala247Ser)
c.634G>T (p.Ala212Ser)
c.472G>T (p.Ala158Ser)
n.972G>T
12g.57568988C>ACA385499911KIF5Ac.740C>A (p.Ala247Asp)
c.635C>A (p.Ala212Asp)
c.473C>A (p.Ala158Asp)
n.973C>A
12g.57568988C>GCA385499915KIF5Ac.740C>G (p.Ala247Gly)
c.635C>G (p.Ala212Gly)
c.473C>G (p.Ala158Gly)
n.973C>G
12g.57568988C>TCA385499913KIF5Ac.740C>T (p.Ala247Val)
c.635C>T (p.Ala212Val)
c.473C>T (p.Ala158Val)
n.973C>T
gnomAD v4
12g.57568989C>ACA480263907KIF5Ac.741C>A (p.Ala247=)
c.636C>A (p.Ala212=)
c.474C>A (p.Ala158=)
n.974C>A
12g.57568989C=CA2038924872KIF5Ac.741C= (p.Ala247=)
c.636C= (p.Ala212=)
c.474C= (p.Ala158=)
n.974C=
12g.57568989C>GCA480263908KIF5Ac.741C>G (p.Ala247=)
c.636C>G (p.Ala212=)
c.474C>G (p.Ala158=)
n.974C>G
12g.57568989C>TCA6652673KIF5Ac.741C>T (p.Ala247=)
c.636C>T (p.Ala212=)
c.474C>T (p.Ala158=)
n.974C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
12g.57568990G>ACA237783099KIF5Ac.742G>A (p.Val248Met)
c.637G>A (p.Val213Met)
c.475G>A (p.Val159Met)
n.975G>A
ClinVar dbSNP gnomAD v3 gnomAD v4
12g.57568990G>CCA385499922KIF5Ac.742G>C (p.Val248Leu)
c.637G>C (p.Val213Leu)
c.475G>C (p.Val159Leu)
n.975G>C
12g.57568990G=CA2038924882KIF5Ac.742G= (p.Val248=)
c.637G= (p.Val213=)
c.475G= (p.Val159=)
n.975G=
12g.57568990G>TCA385499923KIF5Ac.742G>T (p.Val248Leu)
c.637G>T (p.Val213Leu)
c.475G>T (p.Val159Leu)
n.975G>T
ClinVar gnomAD v4 COSMIC
12g.57568991T>ACA385499927KIF5Ac.743T>A (p.Val248Glu)
c.638T>A (p.Val213Glu)
c.476T>A (p.Val159Glu)
n.976T>A
12g.57568991T>CCA385499930KIF5Ac.743T>C (p.Val248Ala)
c.638T>C (p.Val213Ala)
c.476T>C (p.Val159Ala)
n.976T>C
12g.57568991T>GCA385499932KIF5Ac.743T>G (p.Val248Gly)
c.638T>G (p.Val213Gly)
c.476T>G (p.Val159Gly)
n.976T>G
12g.57568992G>ACA480263909KIF5Ac.744G>A (p.Val248=)
c.639G>A (p.Val213=)
c.477G>A (p.Val159=)
n.977G>A
gnomAD v4
12g.57568992G>CCA480263910KIF5Ac.744G>C (p.Val248=)
c.639G>C (p.Val213=)
c.477G>C (p.Val159=)
n.977G>C
ClinVar
12g.57568992G>TCA480263911KIF5Ac.744G>T (p.Val248=)
c.639G>T (p.Val213=)
c.477G>T (p.Val159=)
n.977G>T
12g.57568993C>ACA385499933KIF5Ac.745C>A (p.Leu249Met)
c.640C>A (p.Leu214Met)
c.478C>A (p.Leu160Met)
n.978C>A
gnomAD v4
12g.57568993C=CA2038924907KIF5Ac.745C= (p.Leu249=)
c.640C= (p.Leu214=)
c.478C= (p.Leu160=)
n.978C=
12g.57568993C>GCA385499934KIF5Ac.745C>G (p.Leu249Val)
c.640C>G (p.Leu214Val)
c.478C>G (p.Leu160Val)
n.978C>G
ClinVar
12g.57568993C>TCA6652674KIF5Ac.745C>T (p.Leu249=)
c.640C>T (p.Leu214=)
c.478C>T (p.Leu160=)
n.978C>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.57568994T>ACA385499938KIF5Ac.746T>A (p.Leu249Gln)
c.641T>A (p.Leu214Gln)
c.479T>A (p.Leu160Gln)
n.979T>A
12g.57568994T>CCA385499940KIF5Ac.746T>C (p.Leu249Pro)
c.641T>C (p.Leu214Pro)
c.479T>C (p.Leu160Pro)
n.979T>C
12g.57568994T>GCA385499942KIF5Ac.746T>G (p.Leu249Arg)
c.641T>G (p.Leu214Arg)
c.479T>G (p.Leu160Arg)
n.979T>G
12g.57568995G>ACA480263912KIF5Ac.747G>A (p.Leu249=)
c.642G>A (p.Leu214=)
c.480G>A (p.Leu160=)
n.980G>A
dbSNP gnomAD v4
12g.57568995G>CCA480263913KIF5Ac.747G>C (p.Leu249=)
c.642G>C (p.Leu214=)
c.480G>C (p.Leu160=)
n.980G>C
12g.57568995G=CA2038924926KIF5Ac.747G= (p.Leu249=)
c.642G= (p.Leu214=)
c.480G= (p.Leu160=)
n.980G=
12g.57568995G>TCA480263914KIF5Ac.747G>T (p.Leu249=)
c.642G>T (p.Leu214=)
c.480G>T (p.Leu160=)
n.980G>T
12g.57568996G>ACA385499950KIF5Ac.748G>A (p.Asp250Asn)
c.643G>A (p.Asp215Asn)
c.481G>A (p.Asp161Asn)
n.981G>A
12g.57568996G>CCA385499945KIF5Ac.748G>C (p.Asp250His)
c.643G>C (p.Asp215His)
c.481G>C (p.Asp161His)
n.981G>C
12g.57568996G>TCA385499948KIF5Ac.748G>T (p.Asp250Tyr)
c.643G>T (p.Asp215Tyr)
c.481G>T (p.Asp161Tyr)
n.981G>T
12g.57568997A=CA2038924936KIF5Ac.749A= (p.Asp250=)
c.644A= (p.Asp215=)
c.482A= (p.Asp161=)
n.982A=
12g.57568997A>CCA385499953KIF5Ac.749A>C (p.Asp250Ala)
c.644A>C (p.Asp215Ala)
c.482A>C (p.Asp161Ala)
n.982A>C
12g.57568997A>GCA385499955KIF5Ac.749A>G (p.Asp250Gly)
c.644A>G (p.Asp215Gly)
c.482A>G (p.Asp161Gly)
n.982A>G
COSMIC
12g.57568997A>TCA385499957KIF5Ac.749A>T (p.Asp250Val)
c.644A>T (p.Asp215Val)
c.482A>T (p.Asp161Val)
n.982A>T
12g.57568997_57568998insTATCCTGCA2038924953KIF5Ac.749_750insTATCCTG (p.Glu251IlefsTer23)
c.644_645insTATCCTG (p.Glu216IlefsTer23)
c.482_483insTATCCTG (p.Glu162IlefsTer23)
n.982_983insTATCCTG
dbSNP
12g.57568998C>ACA385499960KIF5Ac.750C>A (p.Asp250Glu)
c.645C>A (p.Asp215Glu)
c.483C>A (p.Asp161Glu)
n.983C>A
12g.57568998C=CA2038924950KIF5Ac.750C= (p.Asp250=)
c.645C= (p.Asp215=)
c.483C= (p.Asp161=)
n.983C=
12g.57568998C>GCA385499962KIF5Ac.750C>G (p.Asp250Glu)
c.645C>G (p.Asp215Glu)
c.483C>G (p.Asp161Glu)
n.983C>G
dbSNP
12g.57568998C>TCA16043759KIF5Ac.750C>T (p.Asp250=)
c.645C>T (p.Asp215=)
c.483C>T (p.Asp161=)
n.983C>T
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.57568999G>ACA130084KIF5Ac.751G>A (p.Glu251Lys)
c.646G>A (p.Glu216Lys)
c.484G>A (p.Glu162Lys)
n.984G>A
ClinVar dbSNP gnomAD v4
12g.57568999G>CCA385499973KIF5Ac.751G>C (p.Glu251Gln)
c.646G>C (p.Glu216Gln)
c.484G>C (p.Glu162Gln)
n.984G>C
12g.57568999G=CA2038924963KIF5Ac.751G= (p.Glu251=)
c.646G= (p.Glu216=)
c.484G= (p.Glu162=)
n.984G=
12g.57568999G>TCA385499975KIF5Ac.751G>T (p.Glu251Ter)
c.646G>T (p.Glu216Ter)
c.484G>T (p.Glu162Ter)
n.984G>T
COSMIC
12g.57568999_57569000insGGACGTCTTCGGCAAGCCGACGTCGATCACCCGCCA2038924968KIF5Ac.751_752insGGACGTCTTCGGCAAGCCGACGTCGATCACCCGC (p.Glu251GlyfsTer32)
c.646_647insGGACGTCTTCGGCAAGCCGACGTCGATCACCCGC (p.Glu216GlyfsTer32)
c.484_485insGGACGTCTTCGGCAAGCCGACGTCGATCACCCGC (p.Glu162GlyfsTer32)
n.984_985insGGACGTCTTCGGCAAGCCGACGTCGATCACCCGC
dbSNP
12g.57569000A>CCA385499979KIF5Ac.752A>C (p.Glu251Ala)
c.647A>C (p.Glu216Ala)
c.485A>C (p.Glu162Ala)
n.985A>C
12g.57569000A>GCA385499981KIF5Ac.752A>G (p.Glu251Gly)
c.647A>G (p.Glu216Gly)
c.485A>G (p.Glu162Gly)
n.985A>G
12g.57569000A>TCA385499983KIF5Ac.752A>T (p.Glu251Val)
c.647A>T (p.Glu216Val)
c.485A>T (p.Glu162Val)
n.985A>T
12g.57569001G>ACA480263915KIF5Ac.753G>A (p.Glu251=)
c.648G>A (p.Glu216=)
c.486G>A (p.Glu162=)
n.986G>A
12g.57569001G>CCA385499985KIF5Ac.753G>C (p.Glu251Asp)
c.648G>C (p.Glu216Asp)
c.486G>C (p.Glu162Asp)
n.986G>C
ClinVar COSMIC
12g.57569001G>TCA385499986KIF5Ac.753G>T (p.Glu251Asp)
c.648G>T (p.Glu216Asp)
c.486G>T (p.Glu162Asp)
n.986G>T
12g.57569002G>ACA385499987KIF5Ac.754G>A (p.Ala252Thr)
c.649G>A (p.Ala217Thr)
c.487G>A (p.Ala163Thr)
n.987G>A
dbSNP gnomAD v2
12g.57569002G>CCA385499989KIF5Ac.754G>C (p.Ala252Pro)
c.649G>C (p.Ala217Pro)
c.487G>C (p.Ala163Pro)
n.987G>C
ClinVar
12g.57569002G=CA2038924970KIF5Ac.754G= (p.Ala252=)
c.649G= (p.Ala217=)
c.487G= (p.Ala163=)
n.987G=
12g.57569002G>TCA385499988KIF5Ac.754G>T (p.Ala252Ser)
c.649G>T (p.Ala217Ser)
c.487G>T (p.Ala163Ser)
n.987G>T
12g.57569002_57569003insGCCAGCAATGGCTCGGTGACGTCGACCCA2038924974KIF5Ac.754_755insGCCAGCAATGGCTCGGTGACGTCGACC (p.Ala252delinsGlyGlnGlnTrpLeuGlyAspValAspPro)
c.649_650insGCCAGCAATGGCTCGGTGACGTCGACC (p.Ala217delinsGlyGlnGlnTrpLeuGlyAspValAspPro)
c.487_488insGCCAGCAATGGCTCGGTGACGTCGACC (p.Ala163delinsGlyGlnGlnTrpLeuGlyAspValAspPro)
n.987_988insGCCAGCAATGGCTCGGTGACGTCGACC
dbSNP
12g.57569003C>ACA385499990KIF5Ac.755C>A (p.Ala252Glu)
c.650C>A (p.Ala217Glu)
c.488C>A (p.Ala163Glu)
n.988C>A
12g.57569003C>GCA385499991KIF5Ac.755C>G (p.Ala252Gly)
c.650C>G (p.Ala217Gly)
c.488C>G (p.Ala163Gly)
n.988C>G
COSMIC
12g.57569003C>TCA385499993KIF5Ac.755C>T (p.Ala252Val)
c.650C>T (p.Ala217Val)
c.488C>T (p.Ala163Val)
n.988C>T
12g.57569004A>CCA480263916KIF5Ac.756A>C (p.Ala252=)
c.651A>C (p.Ala217=)
c.489A>C (p.Ala163=)
n.989A>C
12g.57569004A>GCA480263917KIF5Ac.756A>G (p.Ala252=)
c.651A>G (p.Ala217=)
c.489A>G (p.Ala163=)
n.989A>G
12g.57569004A>TCA480263918KIF5Ac.756A>T (p.Ala252=)
c.651A>T (p.Ala217=)
c.489A>T (p.Ala163=)
n.989A>T
12g.57569005A>CCA385499994KIF5Ac.757A>C (p.Lys253Gln)
c.652A>C (p.Lys218Gln)
c.490A>C (p.Lys164Gln)
n.990A>C
12g.57569005A>GCA385499995KIF5Ac.757A>G (p.Lys253Glu)
c.652A>G (p.Lys218Glu)
c.490A>G (p.Lys164Glu)
n.990A>G
12g.57569005A>TCA385499996KIF5Ac.757A>T (p.Lys253Ter)
c.652A>T (p.Lys218Ter)
c.490A>T (p.Lys164Ter)
n.990A>T
12g.57569006A>CCA385499997KIF5Ac.758A>C (p.Lys253Thr)
c.653A>C (p.Lys218Thr)
c.491A>C (p.Lys164Thr)
n.991A>C
12g.57569006A>GCA385499998KIF5Ac.758A>G (p.Lys253Arg)
c.653A>G (p.Lys218Arg)
c.491A>G (p.Lys164Arg)
n.991A>G
12g.57569006A>TCA385499999KIF5Ac.758A>T (p.Lys253Met)
c.653A>T (p.Lys218Met)
c.491A>T (p.Lys164Met)
n.991A>T
12g.57569007G>ACA480263919KIF5Ac.759G>A (p.Lys253=)
c.654G>A (p.Lys218=)
c.492G>A (p.Lys164=)
n.992G>A
12g.57569007G>CCA385500000KIF5Ac.759G>C (p.Lys253Asn)
c.654G>C (p.Lys218Asn)
c.492G>C (p.Lys164Asn)
n.992G>C
12g.57569007G>TCA385500001KIF5Ac.759G>T (p.Lys253Asn)
c.654G>T (p.Lys218Asn)
c.492G>T (p.Lys164Asn)
n.992G>T
12g.57569008A>CCA385500004KIF5Ac.760A>C (p.Asn254His)
c.655A>C (p.Asn219His)
c.493A>C (p.Asn165His)
n.993A>C
12g.57569008A>GCA385500003KIF5Ac.760A>G (p.Asn254Asp)
c.655A>G (p.Asn219Asp)
c.493A>G (p.Asn165Asp)
n.993A>G
12g.57569008A>TCA385500002KIF5Ac.760A>T (p.Asn254Tyr)
c.655A>T (p.Asn219Tyr)
c.493A>T (p.Asn165Tyr)
n.993A>T
12g.57569009A>CCA385500007KIF5Ac.761A>C (p.Asn254Thr)
c.656A>C (p.Asn219Thr)
c.494A>C (p.Asn165Thr)
n.994A>C
12g.57569009A>GCA385500008KIF5Ac.761A>G (p.Asn254Ser)
c.656A>G (p.Asn219Ser)
c.494A>G (p.Asn165Ser)
n.994A>G
12g.57569009A>TCA385500010KIF5Ac.761A>T (p.Asn254Ile)
c.656A>T (p.Asn219Ile)
c.494A>T (p.Asn165Ile)
n.994A>T
12g.57569010T>ACA385500013KIF5Ac.762T>A (p.Asn254Lys)
c.657T>A (p.Asn219Lys)
c.495T>A (p.Asn165Lys)
n.995T>A
12g.57569010T>CCA237783102KIF5Ac.762T>C (p.Asn254=)
c.657T>C (p.Asn219=)
c.495T>C (p.Asn165=)
n.995T>C
ClinVar dbSNP
12g.57569010T>GCA385500015KIF5Ac.762T>G (p.Asn254Lys)
c.657T>G (p.Asn219Lys)
c.495T>G (p.Asn165Lys)
n.995T>G
12g.57569010T=CA2038924980KIF5Ac.762T= (p.Asn254=)
c.657T= (p.Asn219=)
c.495T= (p.Asn165=)
n.995T=
12g.57569011A>CCA385500018KIF5Ac.763A>C (p.Ile255Leu)
c.658A>C (p.Ile220Leu)
c.496A>C (p.Ile166Leu)
n.996A>C
12g.57569011A>GCA385500019KIF5Ac.763A>G (p.Ile255Val)
c.658A>G (p.Ile220Val)
c.496A>G (p.Ile166Val)
n.996A>G
ClinVar dbSNP
12g.57569011A>TCA385500020KIF5Ac.763A>T (p.Ile255Phe)
c.658A>T (p.Ile220Phe)
c.496A>T (p.Ile166Phe)
n.996A>T
12g.57569012T>ACA385500021KIF5Ac.764T>A (p.Ile255Asn)
c.659T>A (p.Ile220Asn)
c.497T>A (p.Ile166Asn)
n.997T>A
12g.57569012T>CCA385500022KIF5Ac.764T>C (p.Ile255Thr)
c.659T>C (p.Ile220Thr)
c.497T>C (p.Ile166Thr)
n.997T>C
ClinVar dbSNP
12g.57569012T>GCA385500027KIF5Ac.764T>G (p.Ile255Ser)
c.659T>G (p.Ile220Ser)
c.497T>G (p.Ile166Ser)
n.997T>G
12g.57569012_57569015delinsTCAACA2038924985KIF5Ac.764_767delinsTCAA (p.Ile255=)
c.659_662delinsTCAA (p.Ile220=)
c.497_500delinsTCAA (p.Ile166=)
n.997_1000delinsTCAA
12g.57569013C>ACA480264011KIF5Ac.765C>A (p.Ile255=)
c.660C>A (p.Ile220=)
c.498C>A (p.Ile166=)
n.998C>A
12g.57569013C>GCA385500031KIF5Ac.765C>G (p.Ile255Met)
c.660C>G (p.Ile220Met)
c.498C>G (p.Ile166Met)
n.998C>G
ClinVar dbSNP
12g.57569013C>TCA480264012KIF5Ac.765C>T (p.Ile255=)
c.660C>T (p.Ile220=)
c.498C>T (p.Ile166=)
n.998C>T
COSMIC
12g.57569016_57569018delCA891843503KIF5Ac.768_770del (p.Asn256del)
c.663_665del (p.Asn221del)
c.501_503del (p.Asn167del)
n.1001_1003del
ClinVar dbSNP
12g.57569014A>CCA385500036KIF5Ac.766A>C (p.Asn256His)
c.661A>C (p.Asn221His)
c.499A>C (p.Asn167His)
n.999A>C
12g.57569014A>GCA385500043KIF5Ac.766A>G (p.Asn256Asp)
c.661A>G (p.Asn221Asp)
c.499A>G (p.Asn167Asp)
n.999A>G
12g.57569014A>TCA385500039KIF5Ac.766A>T (p.Asn256Tyr)
c.661A>T (p.Asn221Tyr)
c.499A>T (p.Asn167Tyr)
n.999A>T
12g.57569015A=CA2038924997KIF5Ac.767A= (p.Asn256=)
c.662A= (p.Asn221=)
c.500A= (p.Asn167=)
n.1000A=
12g.57569015A>CCA385500045KIF5Ac.767A>C (p.Asn256Thr)
c.662A>C (p.Asn221Thr)
c.500A>C (p.Asn167Thr)
n.1000A>C
12g.57569015A>GCA118520KIF5Ac.767A>G (p.Asn256Ser)
c.662A>G (p.Asn221Ser)
c.500A>G (p.Asn167Ser)
n.1000A>G
ClinVar dbSNP
12g.57569015A>TCA385500048KIF5Ac.767A>T (p.Asn256Ile)
c.662A>T (p.Asn221Ile)
c.500A>T (p.Asn167Ile)
n.1000A>T

Number of alleles fetched