Chr Mutation (hg38) CAid Gene Transcript Linkouts
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
12g.57569016C>ACA385500055KIF5Ac.768C>A (p.Asn256Lys)
c.663C>A (p.Asn221Lys)
c.501C>A (p.Asn167Lys)
n.1001C>A
12g.57569016C>GCA385500056KIF5Ac.768C>G (p.Asn256Lys)
c.663C>G (p.Asn221Lys)
c.501C>G (p.Asn167Lys)
n.1001C>G
12g.57569016C>TCA480264014KIF5Ac.768C>T (p.Asn256=)
c.663C>T (p.Asn221=)
c.501C>T (p.Asn167=)
n.1001C>T
 COSMIC
12g.57569017A>CCA385500062KIF5Ac.769A>C (p.Lys257Gln)
c.664A>C (p.Lys222Gln)
c.502A>C (p.Lys168Gln)
n.1002A>C
12g.57569017A>GCA385500064KIF5Ac.769A>G (p.Lys257Glu)
c.664A>G (p.Lys222Glu)
c.502A>G (p.Lys168Glu)
n.1002A>G
12g.57569017A>TCA385500067KIF5Ac.769A>T (p.Lys257Ter)
c.664A>T (p.Lys222Ter)
c.502A>T (p.Lys168Ter)
n.1002A>T
12g.57569018A=CA2038925002KIF5Ac.770A= (p.Lys257=)
c.665A= (p.Lys222=)
c.503A= (p.Lys168=)
n.1003A=
12g.57569018A>CCA385500073KIF5Ac.770A>C (p.Lys257Thr)
c.665A>C (p.Lys222Thr)
c.503A>C (p.Lys168Thr)
n.1003A>C
12g.57569018A>GCA385500076KIF5Ac.770A>G (p.Lys257Arg)
c.665A>G (p.Lys222Arg)
c.503A>G (p.Lys168Arg)
n.1003A>G
12g.57569018A>TCA237783105KIF5Ac.770A>T (p.Lys257Met)
c.665A>T (p.Lys222Met)
c.503A>T (p.Lys168Met)
n.1003A>T
 dbSNP
12g.57569019G>ACA480264016KIF5Ac.771G>A (p.Lys257=)
c.666G>A (p.Lys222=)
c.504G>A (p.Lys168=)
n.1004G>A
12g.57569019G>CCA385500083KIF5Ac.771G>C (p.Lys257Asn)
c.666G>C (p.Lys222Asn)
c.504G>C (p.Lys168Asn)
n.1004G>C
12g.57569019G>TCA385500087KIF5Ac.771G>T (p.Lys257Asn)
c.666G>T (p.Lys222Asn)
c.504G>T (p.Lys168Asn)
n.1004G>T
12g.57569020T>ACA385500102KIF5Ac.772T>A (p.Ser258Thr)
c.667T>A (p.Ser223Thr)
c.505T>A (p.Ser169Thr)
n.1005T>A
12g.57569020T>CCA385500096KIF5Ac.772T>C (p.Ser258Pro)
c.667T>C (p.Ser223Pro)
c.505T>C (p.Ser169Pro)
n.1005T>C
 ClinVar dbSNP
12g.57569020T>GCA385500094KIF5Ac.772T>G (p.Ser258Ala)
c.667T>G (p.Ser223Ala)
c.505T>G (p.Ser169Ala)
n.1005T>G
12g.57569020T=CA2038925012KIF5Ac.772T= (p.Ser258=)
c.667T= (p.Ser223=)
c.505T= (p.Ser169=)
n.1005T=
12g.57569021C>ACA385500105KIF5Ac.773C>A (p.Ser258Ter)
c.668C>A (p.Ser223Ter)
c.506C>A (p.Ser169Ter)
n.1006C>A
12g.57569021C>GCA385500108KIF5Ac.773C>G (p.Ser258Ter)
c.668C>G (p.Ser223Ter)
c.506C>G (p.Ser169Ter)
n.1006C>G
12g.57569021C>TCA385500112KIF5Ac.773C>T (p.Ser258Leu)
c.668C>T (p.Ser223Leu)
c.506C>T (p.Ser169Leu)
n.1006C>T
12g.57569022A>CCA480264017KIF5Ac.774A>C (p.Ser258=)
c.669A>C (p.Ser223=)
c.507A>C (p.Ser169=)
n.1007A>C
12g.57569022A>GCA480264018KIF5Ac.774A>G (p.Ser258=)
c.669A>G (p.Ser223=)
c.507A>G (p.Ser169=)
n.1007A>G
12g.57569022A>TCA480264019KIF5Ac.774A>T (p.Ser258=)
c.669A>T (p.Ser223=)
c.507A>T (p.Ser169=)
n.1007A>T
12g.57569023C>ACA385500115KIF5Ac.775C>A (p.Leu259Met)
c.670C>A (p.Leu224Met)
c.508C>A (p.Leu170Met)
n.1008C>A
12g.57569023C=CA2038925018KIF5Ac.775C= (p.Leu259=)
c.670C= (p.Leu224=)
c.508C= (p.Leu170=)
n.1008C=
12g.57569023C>GCA385500117KIF5Ac.775C>G (p.Leu259Val)
c.670C>G (p.Leu224Val)
c.508C>G (p.Leu170Val)
n.1008C>G
12g.57569023C>TCA480264020KIF5Ac.775C>T (p.Leu259=)
c.670C>T (p.Leu224=)
c.508C>T (p.Leu170=)
n.1008C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
12g.57569024T>ACA385500120KIF5Ac.776T>A (p.Leu259Gln)
c.671T>A (p.Leu224Gln)
c.509T>A (p.Leu170Gln)
n.1009T>A
12g.57569024T>CCA385500122KIF5Ac.776T>C (p.Leu259Pro)
c.671T>C (p.Leu224Pro)
c.509T>C (p.Leu170Pro)
n.1009T>C
 dbSNP
12g.57569024T>GCA385500127KIF5Ac.776T>G (p.Leu259Arg)
c.671T>G (p.Leu224Arg)
c.509T>G (p.Leu170Arg)
n.1009T>G
12g.57569024T=CA2038925023KIF5Ac.776T= (p.Leu259=)
c.671T= (p.Leu224=)
c.509T= (p.Leu170=)
n.1009T=
12g.57569025G>ACA480264022KIF5Ac.777G>A (p.Leu259=)
c.672G>A (p.Leu224=)
c.510G>A (p.Leu170=)
n.1010G>A
 dbSNP gnomAD v2 gnomAD v4
12g.57569025G>CCA6652675KIF5Ac.777G>C (p.Leu259=)
c.672G>C (p.Leu224=)
c.510G>C (p.Leu170=)
n.1010G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.57569025G=CA2038925027KIF5Ac.777G= (p.Leu259=)
c.672G= (p.Leu224=)
c.510G= (p.Leu170=)
n.1010G=
12g.57569025G>TCA480264023KIF5Ac.777G>T (p.Leu259=)
c.672G>T (p.Leu224=)
c.510G>T (p.Leu170=)
n.1010G>T
12g.57569026T>ACA385500131KIF5Ac.778T>A (p.Ser260Thr)
c.673T>A (p.Ser225Thr)
c.511T>A (p.Ser171Thr)
n.1011T>A
12g.57569026T>CCA385500133KIF5Ac.778T>C (p.Ser260Pro)
c.673T>C (p.Ser225Pro)
c.511T>C (p.Ser171Pro)
n.1011T>C
12g.57569026T>GCA385500135KIF5Ac.778T>G (p.Ser260Ala)
c.673T>G (p.Ser225Ala)
c.511T>G (p.Ser171Ala)
n.1011T>G
12g.57569027C>ACA385500141KIF5Ac.779C>A (p.Ser260Ter)
c.674C>A (p.Ser225Ter)
c.512C>A (p.Ser171Ter)
n.1012C>A
12g.57569027C>GCA385500144KIF5Ac.779C>G (p.Ser260Ter)
c.674C>G (p.Ser225Ter)
c.512C>G (p.Ser171Ter)
n.1012C>G
12g.57569027C>TCA385500137KIF5Ac.779C>T (p.Ser260Leu)
c.674C>T (p.Ser225Leu)
c.512C>T (p.Ser171Leu)
n.1012C>T
12g.57569028A>CCA480264024KIF5Ac.780A>C (p.Ser260=)
c.675A>C (p.Ser225=)
c.513A>C (p.Ser171=)
n.1013A>C
12g.57569028A>GCA480264025KIF5Ac.780A>G (p.Ser260=)
c.675A>G (p.Ser225=)
c.513A>G (p.Ser171=)
n.1013A>G
12g.57569028A>TCA480264026KIF5Ac.780A>T (p.Ser260=)
c.675A>T (p.Ser225=)
c.513A>T (p.Ser171=)
n.1013A>T
12g.57569029G>ACA385500147KIF5Ac.781G>A (p.Ala261Thr)
c.676G>A (p.Ala226Thr)
c.514G>A (p.Ala172Thr)
n.1014G>A
12g.57569029G>CCA385500149KIF5Ac.781G>C (p.Ala261Pro)
c.676G>C (p.Ala226Pro)
c.514G>C (p.Ala172Pro)
n.1014G>C
12g.57569029G>TCA385500152KIF5Ac.781G>T (p.Ala261Ser)
c.676G>T (p.Ala226Ser)
c.514G>T (p.Ala172Ser)
n.1014G>T
12g.57569030C>ACA385500156KIF5Ac.782C>A (p.Ala261Asp)
c.677C>A (p.Ala226Asp)
c.515C>A (p.Ala172Asp)
n.1015C>A
 COSMIC
12g.57569030C>GCA385500159KIF5Ac.782C>G (p.Ala261Gly)
c.677C>G (p.Ala226Gly)
c.515C>G (p.Ala172Gly)
n.1015C>G
12g.57569030C>TCA385500167KIF5Ac.782C>T (p.Ala261Val)
c.677C>T (p.Ala226Val)
c.515C>T (p.Ala172Val)
n.1015C>T
 ClinVar dbSNP COSMIC
12g.57569031T>ACA480264027KIF5Ac.783T>A (p.Ala261=)
c.678T>A (p.Ala226=)
c.516T>A (p.Ala172=)
n.1016T>A
12g.57569031T>CCA480264028KIF5Ac.783T>C (p.Ala261=)
c.678T>C (p.Ala226=)
c.516T>C (p.Ala172=)
n.1016T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.57569031T>GCA480264029KIF5Ac.783T>G (p.Ala261=)
c.678T>G (p.Ala226=)
c.516T>G (p.Ala172=)
n.1016T>G
12g.57569031T=CA2038925036KIF5Ac.783T= (p.Ala261=)
c.678T= (p.Ala226=)
c.516T= (p.Ala172=)
n.1016T=
12g.57569032C>ACA385500174KIF5Ac.784C>A (p.Leu262Met)
c.679C>A (p.Leu227Met)
c.517C>A (p.Leu173Met)
n.1017C>A
12g.57569032C>GCA385500171KIF5Ac.784C>G (p.Leu262Val)
c.679C>G (p.Leu227Val)
c.517C>G (p.Leu173Val)
n.1017C>G
12g.57569032C>TCA480264031KIF5Ac.784C>T (p.Leu262=)
c.679C>T (p.Leu227=)
c.517C>T (p.Leu173=)
n.1017C>T
12g.57569033T>ACA385500179KIF5Ac.785T>A (p.Leu262Gln)
c.680T>A (p.Leu227Gln)
c.518T>A (p.Leu173Gln)
n.1018T>A
12g.57569033T>CCA385500183KIF5Ac.785T>C (p.Leu262Pro)
c.680T>C (p.Leu227Pro)
c.518T>C (p.Leu173Pro)
n.1018T>C
 ClinVar dbSNP
12g.57569033T>GCA385500185KIF5Ac.785T>G (p.Leu262Arg)
c.680T>G (p.Leu227Arg)
c.518T>G (p.Leu173Arg)
n.1018T>G
12g.57569033T=CA2038925055KIF5Ac.785T= (p.Leu262=)
c.680T= (p.Leu227=)
c.518T= (p.Leu173=)
n.1018T=
12g.57569034G>ACA480264033KIF5Ac.786G>A (p.Leu262=)
c.681G>A (p.Leu227=)
c.519G>A (p.Leu173=)
n.1019G>A
12g.57569034G>CCA480264034KIF5Ac.786G>C (p.Leu262=)
c.681G>C (p.Leu227=)
c.519G>C (p.Leu173=)
n.1019G>C
12g.57569034G>TCA480264032KIF5Ac.786G>T (p.Leu262=)
c.681G>T (p.Leu227=)
c.519G>T (p.Leu173=)
n.1019G>T
12g.57569035G>ACA385500189KIF5Ac.787G>A (p.Gly263Ser)
c.682G>A (p.Gly228Ser)
c.520G>A (p.Gly174Ser)
n.1020G>A
12g.57569035G>CCA385500190KIF5Ac.787G>C (p.Gly263Arg)
c.682G>C (p.Gly228Arg)
c.520G>C (p.Gly174Arg)
n.1020G>C
12g.57569035G>TCA385500191KIF5Ac.787G>T (p.Gly263Cys)
c.682G>T (p.Gly228Cys)
c.520G>T (p.Gly174Cys)
n.1020G>T
12g.57569036G>ACA385500195KIF5Ac.788G>A (p.Gly263Asp)
c.683G>A (p.Gly228Asp)
c.521G>A (p.Gly174Asp)
n.1021G>A
 ClinVar dbSNP
12g.57569036G>CCA385500199KIF5Ac.788G>C (p.Gly263Ala)
c.683G>C (p.Gly228Ala)
c.521G>C (p.Gly174Ala)
n.1021G>C
12g.57569036G>TCA385500197KIF5Ac.788G>T (p.Gly263Val)
c.683G>T (p.Gly228Val)
c.521G>T (p.Gly174Val)
n.1021G>T
12g.57569037C>ACA480264037KIF5Ac.789C>A (p.Gly263=)
c.684C>A (p.Gly228=)
c.522C>A (p.Gly174=)
n.1022C>A
12g.57569037C>GCA480264036KIF5Ac.789C>G (p.Gly263=)
c.684C>G (p.Gly228=)
c.522C>G (p.Gly174=)
n.1022C>G
12g.57569037C>TCA480264035KIF5Ac.789C>T (p.Gly263=)
c.684C>T (p.Gly228=)
c.522C>T (p.Gly174=)
n.1022C>T
 gnomAD v4
12g.57569038A>CCA385500202KIF5Ac.790A>C (p.Asn264His)
c.685A>C (p.Asn229His)
c.523A>C (p.Asn175His)
n.1023A>C
12g.57569038A>GCA385500203KIF5Ac.790A>G (p.Asn264Asp)
c.685A>G (p.Asn229Asp)
c.523A>G (p.Asn175Asp)
n.1023A>G
12g.57569038A>TCA385500204KIF5Ac.790A>T (p.Asn264Tyr)
c.685A>T (p.Asn229Tyr)
c.523A>T (p.Asn175Tyr)
n.1023A>T
12g.57569039A=CA2038925076KIF5Ac.791A= (p.Asn264=)
c.686A= (p.Asn229=)
c.524A= (p.Asn175=)
n.1024A=
12g.57569039A>CCA385500209KIF5Ac.791A>C (p.Asn264Thr)
c.686A>C (p.Asn229Thr)
c.524A>C (p.Asn175Thr)
n.1024A>C
12g.57569039A>GCA385500210KIF5Ac.791A>G (p.Asn264Ser)
c.686A>G (p.Asn229Ser)
c.524A>G (p.Asn175Ser)
n.1024A>G
12g.57569039A>TCA385500213KIF5Ac.791A>T (p.Asn264Ile)
c.686A>T (p.Asn229Ile)
c.524A>T (p.Asn175Ile)
n.1024A>T
 dbSNP
12g.57569040T>ACA385500216KIF5Ac.792T>A (p.Asn264Lys)
c.687T>A (p.Asn229Lys)
c.525T>A (p.Asn175Lys)
n.1025T>A
12g.57569040T>CCA480264042KIF5Ac.792T>C (p.Asn264=)
c.687T>C (p.Asn229=)
c.525T>C (p.Asn175=)
n.1025T>C
12g.57569040T>GCA385500218KIF5Ac.792T>G (p.Asn264Lys)
c.687T>G (p.Asn229Lys)
c.525T>G (p.Asn175Lys)
n.1025T>G
12g.57569041G>ACA385500223KIF5Ac.793G>A (p.Val265Met)
c.688G>A (p.Val230Met)
c.526G>A (p.Val176Met)
n.1026G>A
12g.57569041G>CCA385500224KIF5Ac.793G>C (p.Val265Leu)
c.688G>C (p.Val230Leu)
c.526G>C (p.Val176Leu)
n.1026G>C
12g.57569041G>TCA385500225KIF5Ac.793G>T (p.Val265Leu)
c.688G>T (p.Val230Leu)
c.526G>T (p.Val176Leu)
n.1026G>T
12g.57569042T>ACA385500228KIF5Ac.794T>A (p.Val265Glu)
c.689T>A (p.Val230Glu)
c.527T>A (p.Val176Glu)
n.1027T>A
12g.57569042T>CCA385500235KIF5Ac.794T>C (p.Val265Ala)
c.689T>C (p.Val230Ala)
c.527T>C (p.Val176Ala)
n.1027T>C
 dbSNP gnomAD v2 gnomAD v4
12g.57569042T>GCA385500232KIF5Ac.794T>G (p.Val265Gly)
c.689T>G (p.Val230Gly)
c.527T>G (p.Val176Gly)
n.1027T>G
12g.57569042T=CA2038925081KIF5Ac.794T= (p.Val265=)
c.689T= (p.Val230=)
c.527T= (p.Val176=)
n.1027T=
12g.57569043G>ACA480264046KIF5Ac.795G>A (p.Val265=)
c.690G>A (p.Val230=)
c.528G>A (p.Val176=)
n.1028G>A
 ClinVar dbSNP
12g.57569043G>CCA480264047KIF5Ac.795G>C (p.Val265=)
c.690G>C (p.Val230=)
c.528G>C (p.Val176=)
n.1028G>C
12g.57569043G>TCA480264048KIF5Ac.795G>T (p.Val265=)
c.690G>T (p.Val230=)
c.528G>T (p.Val176=)
n.1028G>T
12g.57569044A>CCA385500240KIF5Ac.796A>C (p.Ile266Leu)
c.691A>C (p.Ile231Leu)
c.529A>C (p.Ile177Leu)
n.1029A>C
12g.57569044A>GCA385500246KIF5Ac.796A>G (p.Ile266Val)
c.691A>G (p.Ile231Val)
c.529A>G (p.Ile177Val)
n.1029A>G
 COSMIC
12g.57569044A>TCA385500243KIF5Ac.796A>T (p.Ile266Phe)
c.691A>T (p.Ile231Phe)
c.529A>T (p.Ile177Phe)
n.1029A>T
12g.57569045delCA2619471771KIF5Ac.797del (p.Ile266ThrfsTer19)
c.692del (p.Ile231ThrfsTer19)
c.530del (p.Ile177ThrfsTer19)
n.1030del
 gnomAD v4
12g.57569045T>ACA385500249KIF5Ac.797T>A (p.Ile266Asn)
c.692T>A (p.Ile231Asn)
c.530T>A (p.Ile177Asn)
n.1030T>A
12g.57569045T>CCA385500252KIF5Ac.797T>C (p.Ile266Thr)
c.692T>C (p.Ile231Thr)
c.530T>C (p.Ile177Thr)
n.1030T>C
12g.57569045T>GCA385500255KIF5Ac.797T>G (p.Ile266Ser)
c.692T>G (p.Ile231Ser)
c.530T>G (p.Ile177Ser)
n.1030T>G
12g.57569046C>ACA480264050KIF5Ac.798C>A (p.Ile266=)
c.693C>A (p.Ile231=)
c.531C>A (p.Ile177=)
n.1031C>A
12g.57569046C>GCA385500258KIF5Ac.798C>G (p.Ile266Met)
c.693C>G (p.Ile231Met)
c.531C>G (p.Ile177Met)
n.1031C>G
 gnomAD v4
12g.57569046C>TCA480264052KIF5Ac.798C>T (p.Ile266=)
c.693C>T (p.Ile231=)
c.531C>T (p.Ile177=)
n.1031C>T
12g.57569047T>ACA385500264KIF5Ac.799T>A (p.Ser267Thr)
c.694T>A (p.Ser232Thr)
c.532T>A (p.Ser178Thr)
n.1032T>A
12g.57569047T>CCA385500267KIF5Ac.799T>C (p.Ser267Pro)
c.694T>C (p.Ser232Pro)
c.532T>C (p.Ser178Pro)
n.1032T>C
 ClinVar dbSNP
12g.57569047T>GCA385500271KIF5Ac.799T>G (p.Ser267Ala)
c.694T>G (p.Ser232Ala)
c.532T>G (p.Ser178Ala)
n.1032T>G
12g.57569047T=CA2038925090KIF5Ac.799T= (p.Ser267=)
c.694T= (p.Ser232=)
c.532T= (p.Ser178=)
n.1032T=
12g.57569048C>ACA385500273KIF5Ac.800C>A (p.Ser267Tyr)
c.695C>A (p.Ser232Tyr)
c.533C>A (p.Ser178Tyr)
n.1033C>A
12g.57569048C>GCA385500277KIF5Ac.800C>G (p.Ser267Cys)
c.695C>G (p.Ser232Cys)
c.533C>G (p.Ser178Cys)
n.1033C>G
12g.57569048C>TCA385500274KIF5Ac.800C>T (p.Ser267Phe)
c.695C>T (p.Ser232Phe)
c.533C>T (p.Ser178Phe)
n.1033C>T
12g.57569049C>ACA480264054KIF5Ac.801C>A (p.Ser267=)
c.696C>A (p.Ser232=)
c.534C>A (p.Ser178=)
n.1034C>A
 gnomAD v4
12g.57569049C=CA2038925105KIF5Ac.801C= (p.Ser267=)
c.696C= (p.Ser232=)
c.534C= (p.Ser178=)
n.1034C=
12g.57569049C>GCA480264055KIF5Ac.801C>G (p.Ser267=)
c.696C>G (p.Ser232=)
c.534C>G (p.Ser178=)
n.1034C>G
12g.57569049C>TCA6652676KIF5Ac.801C>T (p.Ser267=)
c.696C>T (p.Ser232=)
c.534C>T (p.Ser178=)
n.1034C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.57569050G>ACA6652677KIF5Ac.802G>A (p.Ala268Thr)
c.697G>A (p.Ala233Thr)
c.535G>A (p.Ala179Thr)
n.1035G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12g.57569050G>CCA385500282KIF5Ac.802G>C (p.Ala268Pro)
c.697G>C (p.Ala233Pro)
c.535G>C (p.Ala179Pro)
n.1035G>C
12g.57569050G=CA2038925117KIF5Ac.802G= (p.Ala268=)
c.697G= (p.Ala233=)
c.535G= (p.Ala179=)
n.1035G=
12g.57569050G>TCA385500283KIF5Ac.802G>T (p.Ala268Ser)
c.697G>T (p.Ala233Ser)
c.535G>T (p.Ala179Ser)
n.1035G>T
 ClinVar dbSNP
12g.57569051C>ACA385500289KIF5Ac.803C>A (p.Ala268Glu)
c.698C>A (p.Ala233Glu)
c.536C>A (p.Ala179Glu)
n.1036C>A
12g.57569051C>GCA385500286KIF5Ac.803C>G (p.Ala268Gly)
c.698C>G (p.Ala233Gly)
c.536C>G (p.Ala179Gly)
n.1036C>G
12g.57569051C>TCA385500288KIF5Ac.803C>T (p.Ala268Val)
c.698C>T (p.Ala233Val)
c.536C>T (p.Ala179Val)
n.1036C>T
12g.57569052A=CA2038925126KIF5Ac.804A= (p.Ala268=)
c.699A= (p.Ala233=)
c.537A= (p.Ala179=)
n.1037A=
12g.57569052A>CCA480264058KIF5Ac.804A>C (p.Ala268=)
c.699A>C (p.Ala233=)
c.537A>C (p.Ala179=)
n.1037A>C
12g.57569052A>GCA6652678KIF5Ac.804A>G (p.Ala268=)
c.699A>G (p.Ala233=)
c.537A>G (p.Ala179=)
n.1037A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.57569052A>TCA480264059KIF5Ac.804A>T (p.Ala268=)
c.699A>T (p.Ala233=)
c.537A>T (p.Ala179=)
n.1037A>T
12g.57569053C>ACA385500293KIF5Ac.805C>A (p.Leu269Met)
c.700C>A (p.Leu234Met)
c.538C>A (p.Leu180Met)
n.1038C>A
12g.57569053C=CA2038925135KIF5Ac.805C= (p.Leu269=)
c.700C= (p.Leu234=)
c.538C= (p.Leu180=)
n.1038C=
12g.57569053C>GCA385500294KIF5Ac.805C>G (p.Leu269Val)
c.700C>G (p.Leu234Val)
c.538C>G (p.Leu180Val)
n.1038C>G
12g.57569053C>TCA480264060KIF5Ac.805C>T (p.Leu269=)
c.700C>T (p.Leu234=)
c.538C>T (p.Leu180=)
n.1038C>T
 dbSNP gnomAD v3 gnomAD v4
12g.57569054T>ACA385500297KIF5Ac.806T>A (p.Leu269Gln)
c.701T>A (p.Leu234Gln)
c.539T>A (p.Leu180Gln)
n.1039T>A
12g.57569054T>CCA385500298KIF5Ac.806T>C (p.Leu269Pro)
c.701T>C (p.Leu234Pro)
c.539T>C (p.Leu180Pro)
n.1039T>C
 ClinVar
12g.57569054T>GCA385500300KIF5Ac.806T>G (p.Leu269Arg)
c.701T>G (p.Leu234Arg)
c.539T>G (p.Leu180Arg)
n.1039T>G
12g.57569055G>ACA480264062KIF5Ac.807G>A (p.Leu269=)
c.702G>A (p.Leu234=)
c.540G>A (p.Leu180=)
n.1040G>A
 dbSNP gnomAD v3 gnomAD v4
12g.57569055G>CCA480264065KIF5Ac.807G>C (p.Leu269=)
c.702G>C (p.Leu234=)
c.540G>C (p.Leu180=)
n.1040G>C
12g.57569055G=CA2038925140KIF5Ac.807G= (p.Leu269=)
c.702G= (p.Leu234=)
c.540G= (p.Leu180=)
n.1040G=
12g.57569055G>TCA480264063KIF5Ac.807G>T (p.Leu269=)
c.702G>T (p.Leu234=)
c.540G>T (p.Leu180=)
n.1040G>T
12g.57569056G>ACA385500303KIF5Ac.808G>A (p.Ala270Thr)
c.703G>A (p.Ala235Thr)
c.541G>A (p.Ala181Thr)
n.1041G>A
 gnomAD v4
12g.57569056G>CCA385500304KIF5Ac.808G>C (p.Ala270Pro)
c.703G>C (p.Ala235Pro)
c.541G>C (p.Ala181Pro)
n.1041G>C
12g.57569056G>TCA385500306KIF5Ac.808G>T (p.Ala270Ser)
c.703G>T (p.Ala235Ser)
c.541G>T (p.Ala181Ser)
n.1041G>T
 ClinVar dbSNP
12g.57569057C>ACA385500309KIF5Ac.809C>A (p.Ala270Asp)
c.704C>A (p.Ala235Asp)
c.542C>A (p.Ala181Asp)
n.1042C>A
12g.57569057C>GCA385500310KIF5Ac.809C>G (p.Ala270Gly)
c.704C>G (p.Ala235Gly)
c.542C>G (p.Ala181Gly)
n.1042C>G
 ClinVar
12g.57569057C>TCA385500312KIF5Ac.809C>T (p.Ala270Val)
c.704C>T (p.Ala235Val)
c.542C>T (p.Ala181Val)
n.1042C>T
 gnomAD v4

Number of alleles fetched