Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.54293028T>ACA385109049NFE2c.468A>T (p.Glu156Asp)
c.435A>T (p.Glu145Asp)
c.165A>T (p.Glu55Asp)
12g.54293028T>CCA480094313NFE2c.468A>G (p.Glu156=)
c.435A>G (p.Glu145=)
c.165A>G (p.Glu55=)
 gnomAD v4
12g.54293028T>GCA385109051NFE2c.468A>C (p.Glu156Asp)
c.435A>C (p.Glu145Asp)
c.165A>C (p.Glu55Asp)
 gnomAD v4
12g.54293029T>ACA385109056NFE2c.467A>T (p.Glu156Val)
c.434A>T (p.Glu145Val)
c.164A>T (p.Glu55Val)
12g.54293029T>CCA385109055NFE2c.467A>G (p.Glu156Gly)
c.434A>G (p.Glu145Gly)
c.164A>G (p.Glu55Gly)
12g.54293029T>GCA385109053NFE2c.467A>C (p.Glu156Ala)
c.434A>C (p.Glu145Ala)
c.164A>C (p.Glu55Ala)
12g.54293030C>ACA385109058NFE2c.466G>T (p.Glu156Ter)
c.433G>T (p.Glu145Ter)
c.163G>T (p.Glu55Ter)
12g.54293030C>GCA385109059NFE2c.466G>C (p.Glu156Gln)
c.433G>C (p.Glu145Gln)
c.163G>C (p.Glu55Gln)
12g.54293030C>TCA385109061NFE2c.466G>A (p.Glu156Lys)
c.433G>A (p.Glu145Lys)
c.163G>A (p.Glu55Lys)
12g.54293031A>CCA480094322NFE2c.465T>G (p.Ala155=)
c.432T>G (p.Ala144=)
c.162T>G (p.Ala54=)
12g.54293031A>GCA480094324NFE2c.465T>C (p.Ala155=)
c.432T>C (p.Ala144=)
c.162T>C (p.Ala54=)
 gnomAD v4
12g.54293031A>TCA480094325NFE2c.465T>A (p.Ala155=)
c.432T>A (p.Ala144=)
c.162T>A (p.Ala54=)
12g.54293032G>ACA385109064NFE2c.464C>T (p.Ala155Val)
c.431C>T (p.Ala144Val)
c.161C>T (p.Ala54Val)
 gnomAD v4
12g.54293032G>CCA385109065NFE2c.464C>G (p.Ala155Gly)
c.431C>G (p.Ala144Gly)
c.161C>G (p.Ala54Gly)
12g.54293032G>TCA385109067NFE2c.464C>A (p.Ala155Asp)
c.431C>A (p.Ala144Asp)
c.161C>A (p.Ala54Asp)
12g.54293033C>ACA385109070NFE2c.463G>T (p.Ala155Ser)
c.430G>T (p.Ala144Ser)
c.160G>T (p.Ala54Ser)
12g.54293033C>GCA385109073NFE2c.463G>C (p.Ala155Pro)
c.430G>C (p.Ala144Pro)
c.160G>C (p.Ala54Pro)
12g.54293033C>TCA385109071NFE2c.463G>A (p.Ala155Thr)
c.430G>A (p.Ala144Thr)
c.160G>A (p.Ala54Thr)
12g.54293034A=CA2037367866NFE2c.462T= (p.Asp154=)
c.429T= (p.Asp143=)
c.159T= (p.Asp53=)
12g.54293034A>CCA385109076NFE2c.462T>G (p.Asp154Glu)
c.429T>G (p.Asp143Glu)
c.159T>G (p.Asp53Glu)
12g.54293034A>GCA6606581NFE2c.462T>C (p.Asp154=)
c.429T>C (p.Asp143=)
c.159T>C (p.Asp53=)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.54293034A>TCA385109078NFE2c.462T>A (p.Asp154Glu)
c.429T>A (p.Asp143Glu)
c.159T>A (p.Asp53Glu)
12g.54293035T>ACA385109081NFE2c.461A>T (p.Asp154Val)
c.428A>T (p.Asp143Val)
c.158A>T (p.Asp53Val)
12g.54293035T>CCA385109082NFE2c.461A>G (p.Asp154Gly)
c.428A>G (p.Asp143Gly)
c.158A>G (p.Asp53Gly)
12g.54293035T>GCA385109084NFE2c.461A>C (p.Asp154Ala)
c.428A>C (p.Asp143Ala)
c.158A>C (p.Asp53Ala)
12g.54293036C>ACA385109087NFE2c.460G>T (p.Asp154Tyr)
c.427G>T (p.Asp143Tyr)
c.157G>T (p.Asp53Tyr)
 gnomAD v4
12g.54293036C>GCA385109088NFE2c.460G>C (p.Asp154His)
c.427G>C (p.Asp143His)
c.157G>C (p.Asp53His)
12g.54293036C>TCA385109090NFE2c.460G>A (p.Asp154Asn)
c.427G>A (p.Asp143Asn)
c.157G>A (p.Asp53Asn)
 COSMIC
12g.54293037G>ACA480094335NFE2c.459C>T (p.Ser153=)
c.426C>T (p.Ser142=)
c.156C>T (p.Ser52=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12g.54293037G>CCA385109092NFE2c.459C>G (p.Ser153Arg)
c.426C>G (p.Ser142Arg)
c.156C>G (p.Ser52Arg)
12g.54293037G=CA2037367867NFE2c.459C= (p.Ser153=)
c.426C= (p.Ser142=)
c.156C= (p.Ser52=)
12g.54293037G>TCA385109094NFE2c.459C>A (p.Ser153Arg)
c.426C>A (p.Ser142Arg)
c.156C>A (p.Ser52Arg)
12g.54293038C>ACA385109097NFE2c.458G>T (p.Ser153Ile)
c.425G>T (p.Ser142Ile)
c.155G>T (p.Ser52Ile)
12g.54293038C>GCA385109100NFE2c.458G>C (p.Ser153Thr)
c.425G>C (p.Ser142Thr)
c.155G>C (p.Ser52Thr)
12g.54293038C>TCA385109098NFE2c.458G>A (p.Ser153Asn)
c.425G>A (p.Ser142Asn)
c.155G>A (p.Ser52Asn)
12g.54293039T>ACA385109103NFE2c.457A>T (p.Ser153Cys)
c.424A>T (p.Ser142Cys)
c.154A>T (p.Ser52Cys)
12g.54293039T>CCA385109104NFE2c.457A>G (p.Ser153Gly)
c.424A>G (p.Ser142Gly)
c.154A>G (p.Ser52Gly)
 gnomAD v4
12g.54293039T>GCA385109106NFE2c.457A>C (p.Ser153Arg)
c.424A>C (p.Ser142Arg)
c.154A>C (p.Ser52Arg)
12g.54293040A>CCA385109108NFE2c.456T>G (p.Tyr152Ter)
c.423T>G (p.Tyr141Ter)
c.153T>G (p.Tyr51Ter)
12g.54293040A>GCA480094341NFE2c.456T>C (p.Tyr152=)
c.423T>C (p.Tyr141=)
c.153T>C (p.Tyr51=)
 gnomAD v4
12g.54293040A>TCA385109110NFE2c.456T>A (p.Tyr152Ter)
c.423T>A (p.Tyr141Ter)
c.153T>A (p.Tyr51Ter)
12g.54293041T>ACA385109113NFE2c.455A>T (p.Tyr152Phe)
c.422A>T (p.Tyr141Phe)
c.152A>T (p.Tyr51Phe)
12g.54293041T>CCA385109114NFE2c.455A>G (p.Tyr152Cys)
c.422A>G (p.Tyr141Cys)
c.152A>G (p.Tyr51Cys)
12g.54293041T>GCA385109116NFE2c.455A>C (p.Tyr152Ser)
c.422A>C (p.Tyr141Ser)
c.152A>C (p.Tyr51Ser)
12g.54293042A>CCA385109119NFE2c.454T>G (p.Tyr152Asp)
c.421T>G (p.Tyr141Asp)
c.151T>G (p.Tyr51Asp)
12g.54293042A>GCA385109120NFE2c.454T>C (p.Tyr152His)
c.421T>C (p.Tyr141His)
c.151T>C (p.Tyr51His)
12g.54293042A>TCA385109121NFE2c.454T>A (p.Tyr152Asn)
c.421T>A (p.Tyr141Asn)
c.151T>A (p.Tyr51Asn)
12g.54293043G>ACA480094350NFE2c.453C>T (p.Asn151=)
c.420C>T (p.Asn140=)
c.150C>T (p.Asn50=)
12g.54293043G>CCA385109126NFE2c.453C>G (p.Asn151Lys)
c.420C>G (p.Asn140Lys)
c.150C>G (p.Asn50Lys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.54293043G=CA2037367868NFE2c.453C= (p.Asn151=)
c.420C= (p.Asn140=)
c.150C= (p.Asn50=)
12g.54293043G>TCA385109124NFE2c.453C>A (p.Asn151Lys)
c.420C>A (p.Asn140Lys)
c.150C>A (p.Asn50Lys)
12g.54293045_54293131delCA2619129131NFE2c.367_453del (p.Pro123_Asn151del)
c.334_420del (p.Pro112_Asn140del)
c.64_150del (p.Pro22_Asn50del)
 gnomAD v4
12g.54293044T>ACA385109128NFE2c.452A>T (p.Asn151Ile)
c.419A>T (p.Asn140Ile)
c.149A>T (p.Asn50Ile)
12g.54293044T>CCA385109129NFE2c.452A>G (p.Asn151Ser)
c.419A>G (p.Asn140Ser)
c.149A>G (p.Asn50Ser)
 dbSNP
12g.54293044T>GCA385109132NFE2c.452A>C (p.Asn151Thr)
c.419A>C (p.Asn140Thr)
c.149A>C (p.Asn50Thr)
12g.54293044T=CA2037367869NFE2c.452A= (p.Asn151=)
c.419A= (p.Asn140=)
c.149A= (p.Asn50=)
12g.54293044_54293047dupCA690028218NFE2c.449_452dup (p.Tyr152GlnfsTer3)
c.416_419dup (p.Tyr141GlnfsTer3)
c.146_149dup (p.Tyr51GlnfsTer3)
 dbSNP gnomAD v3 gnomAD v4
12g.54293045T>ACA385109134NFE2c.451A>T (p.Asn151Tyr)
c.418A>T (p.Asn140Tyr)
c.148A>T (p.Asn50Tyr)
12g.54293045T>CCA385109136NFE2c.451A>G (p.Asn151Asp)
c.418A>G (p.Asn140Asp)
c.148A>G (p.Asn50Asp)
12g.54293045T>GCA385109137NFE2c.451A>C (p.Asn151His)
c.418A>C (p.Asn140His)
c.148A>C (p.Asn50His)
12g.54293046G>ACA480094360NFE2c.450C>T (p.Leu150=)
c.417C>T (p.Leu139=)
c.147C>T (p.Leu49=)
 dbSNP gnomAD v2 gnomAD v4
12g.54293046G>CCA480094362NFE2c.450C>G (p.Leu150=)
c.417C>G (p.Leu139=)
c.147C>G (p.Leu49=)
12g.54293046G=CA2037367870NFE2c.450C= (p.Leu150=)
c.417C= (p.Leu139=)
c.147C= (p.Leu49=)
12g.54293046G>TCA480094361NFE2c.450C>A (p.Leu150=)
c.417C>A (p.Leu139=)
c.147C>A (p.Leu49=)
 COSMIC
12g.54293047A>CCA385109140NFE2c.449T>G (p.Leu150Arg)
c.416T>G (p.Leu139Arg)
c.146T>G (p.Leu49Arg)
12g.54293047A>GCA385109142NFE2c.449T>C (p.Leu150Pro)
c.416T>C (p.Leu139Pro)
c.146T>C (p.Leu49Pro)
12g.54293047A>TCA385109144NFE2c.449T>A (p.Leu150His)
c.416T>A (p.Leu139His)
c.146T>A (p.Leu49His)
12g.54293048G>ACA385109147NFE2c.448C>T (p.Leu150Phe)
c.415C>T (p.Leu139Phe)
c.145C>T (p.Leu49Phe)
 dbSNP gnomAD v2 gnomAD v4
12g.54293048G>CCA385109148NFE2c.448C>G (p.Leu150Val)
c.415C>G (p.Leu139Val)
c.145C>G (p.Leu49Val)
 COSMIC
12g.54293048G=CA2037367871NFE2c.448C= (p.Leu150=)
c.415C= (p.Leu139=)
c.145C= (p.Leu49=)
12g.54293048G>TCA385109150NFE2c.448C>A (p.Leu150Ile)
c.415C>A (p.Leu139Ile)
c.145C>A (p.Leu49Ile)
12g.54293049G>ACA480094364NFE2c.447C>T (p.Ser149=)
c.414C>T (p.Ser138=)
c.144C>T (p.Ser48=)
 gnomAD v4 COSMIC
12g.54293049G>CCA480094365NFE2c.447C>G (p.Ser149=)
c.414C>G (p.Ser138=)
c.144C>G (p.Ser48=)
12g.54293049G>TCA480094366NFE2c.447C>A (p.Ser149=)
c.414C>A (p.Ser138=)
c.144C>A (p.Ser48=)
12g.54293050G>ACA385109154NFE2c.446C>T (p.Ser149Phe)
c.413C>T (p.Ser138Phe)
c.143C>T (p.Ser48Phe)
12g.54293050G>CCA385109156NFE2c.446C>G (p.Ser149Cys)
c.413C>G (p.Ser138Cys)
c.143C>G (p.Ser48Cys)
12g.54293050G>TCA385109152NFE2c.446C>A (p.Ser149Tyr)
c.413C>A (p.Ser138Tyr)
c.143C>A (p.Ser48Tyr)
12g.54293051A>CCA385109162NFE2c.445T>G (p.Ser149Ala)
c.412T>G (p.Ser138Ala)
c.142T>G (p.Ser48Ala)
12g.54293051A>GCA385109158NFE2c.445T>C (p.Ser149Pro)
c.412T>C (p.Ser138Pro)
c.142T>C (p.Ser48Pro)
12g.54293051A>TCA385109160NFE2c.445T>A (p.Ser149Thr)
c.412T>A (p.Ser138Thr)
c.142T>A (p.Ser48Thr)
12g.54293052T>ACA385109164NFE2c.444A>T (p.Leu148Phe)
c.411A>T (p.Leu137Phe)
c.141A>T (p.Leu47Phe)
 COSMIC
12g.54293052T>CCA480094376NFE2c.444A>G (p.Leu148=)
c.411A>G (p.Leu137=)
c.141A>G (p.Leu47=)
 dbSNP
12g.54293052T>GCA385109166NFE2c.444A>C (p.Leu148Phe)
c.411A>C (p.Leu137Phe)
c.141A>C (p.Leu47Phe)
12g.54293052T=CA2037367872NFE2c.444A= (p.Leu148=)
c.411A= (p.Leu137=)
c.141A= (p.Leu47=)
12g.54293053A>CCA385109169NFE2c.443T>G (p.Leu148Ter)
c.410T>G (p.Leu137Ter)
c.140T>G (p.Leu47Ter)
12g.54293053A>GCA385109170NFE2c.443T>C (p.Leu148Ser)
c.410T>C (p.Leu137Ser)
c.140T>C (p.Leu47Ser)
12g.54293053A>TCA385109172NFE2c.443T>A (p.Leu148Ter)
c.410T>A (p.Leu137Ter)
c.140T>A (p.Leu47Ter)
12g.54293054A>CCA385109175NFE2c.442T>G (p.Leu148Val)
c.409T>G (p.Leu137Val)
c.139T>G (p.Leu47Val)
12g.54293054A>GCA480094380NFE2c.442T>C (p.Leu148=)
c.409T>C (p.Leu137=)
c.139T>C (p.Leu47=)
12g.54293054A>TCA385109176NFE2c.442T>A (p.Leu148Ile)
c.409T>A (p.Leu137Ile)
c.139T>A (p.Leu47Ile)
12g.54293055T>ACA480094384NFE2c.441A>T (p.Gly147=)
c.408A>T (p.Gly136=)
c.138A>T (p.Gly46=)
12g.54293055T>CCA480094385NFE2c.441A>G (p.Gly147=)
c.408A>G (p.Gly136=)
c.138A>G (p.Gly46=)
12g.54293055T>GCA480094381NFE2c.441A>C (p.Gly147=)
c.408A>C (p.Gly136=)
c.138A>C (p.Gly46=)
12g.54293056C>ACA385109179NFE2c.440G>T (p.Gly147Val)
c.407G>T (p.Gly136Val)
c.137G>T (p.Gly46Val)
12g.54293056C=CA2037367873NFE2c.440G= (p.Gly147=)
c.407G= (p.Gly136=)
c.137G= (p.Gly46=)
12g.54293056C>GCA385109181NFE2c.440G>C (p.Gly147Ala)
c.407G>C (p.Gly136Ala)
c.137G>C (p.Gly46Ala)
12g.54293056C>TCA385109182NFE2c.440G>A (p.Gly147Glu)
c.407G>A (p.Gly136Glu)
c.137G>A (p.Gly46Glu)
 dbSNP gnomAD v4
12g.54293057C>ACA385109185NFE2c.439G>T (p.Gly147Ter)
c.406G>T (p.Gly136Ter)
c.136G>T (p.Gly46Ter)
12g.54293057C>GCA385109184NFE2c.439G>C (p.Gly147Arg)
c.406G>C (p.Gly136Arg)
c.136G>C (p.Gly46Arg)
12g.54293057C>TCA385109183NFE2c.439G>A (p.Gly147Arg)
c.406G>A (p.Gly136Arg)
c.136G>A (p.Gly46Arg)
12g.54293058T>ACA480094393NFE2c.438A>T (p.Ser146=)
c.405A>T (p.Ser135=)
c.135A>T (p.Ser45=)
12g.54293058T>CCA6606582NFE2c.438A>G (p.Ser146=)
c.405A>G (p.Ser135=)
c.135A>G (p.Ser45=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.54293058T>GCA480094394NFE2c.438A>C (p.Ser146=)
c.405A>C (p.Ser135=)
c.135A>C (p.Ser45=)
12g.54293058T=CA2037367874NFE2c.438A= (p.Ser146=)
c.405A= (p.Ser135=)
c.135A= (p.Ser45=)
12g.54293059G>ACA385109186NFE2c.437C>T (p.Ser146Leu)
c.404C>T (p.Ser135Leu)
c.134C>T (p.Ser45Leu)
12g.54293059G>CCA385109187NFE2c.437C>G (p.Ser146Ter)
c.404C>G (p.Ser135Ter)
c.134C>G (p.Ser45Ter)
12g.54293059G>TCA385109188NFE2c.437C>A (p.Ser146Ter)
c.404C>A (p.Ser135Ter)
c.134C>A (p.Ser45Ter)
12g.54293060A>CCA385109189NFE2c.436T>G (p.Ser146Ala)
c.403T>G (p.Ser135Ala)
c.133T>G (p.Ser45Ala)
12g.54293060A>GCA385109190NFE2c.436T>C (p.Ser146Pro)
c.403T>C (p.Ser135Pro)
c.133T>C (p.Ser45Pro)
12g.54293060A>TCA385109191NFE2c.436T>A (p.Ser146Thr)
c.403T>A (p.Ser135Thr)
c.133T>A (p.Ser45Thr)
12g.54293061G>ACA480094402NFE2c.435C>T (p.Asp145=)
c.402C>T (p.Asp134=)
c.132C>T (p.Asp44=)
12g.54293061G>CCA385109192NFE2c.435C>G (p.Asp145Glu)
c.402C>G (p.Asp134Glu)
c.132C>G (p.Asp44Glu)
12g.54293061G>TCA385109193NFE2c.435C>A (p.Asp145Glu)
c.402C>A (p.Asp134Glu)
c.132C>A (p.Asp44Glu)
 gnomAD v4
12g.54293062T>ACA385109194NFE2c.434A>T (p.Asp145Val)
c.401A>T (p.Asp134Val)
c.131A>T (p.Asp44Val)
12g.54293062T>CCA385109195NFE2c.434A>G (p.Asp145Gly)
c.401A>G (p.Asp134Gly)
c.131A>G (p.Asp44Gly)
12g.54293062T>GCA385109196NFE2c.434A>C (p.Asp145Ala)
c.401A>C (p.Asp134Ala)
c.131A>C (p.Asp44Ala)
12g.54293063C>ACA385109199NFE2c.433G>T (p.Asp145Tyr)
c.400G>T (p.Asp134Tyr)
c.130G>T (p.Asp44Tyr)
 gnomAD v4
12g.54293063C=CA2037367875NFE2c.433G= (p.Asp145=)
c.400G= (p.Asp134=)
c.130G= (p.Asp44=)
12g.54293063C>GCA385109198NFE2c.433G>C (p.Asp145His)
c.400G>C (p.Asp134His)
c.130G>C (p.Asp44His)
12g.54293063C>TCA385109197NFE2c.433G>A (p.Asp145Asn)
c.400G>A (p.Asp134Asn)
c.130G>A (p.Asp44Asn)
 dbSNP gnomAD v3 gnomAD v4
12g.54293064G>ACA6606583NFE2c.432C>T (p.Ser144=)
c.399C>T (p.Ser133=)
c.129C>T (p.Ser43=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12g.54293064G>CCA480094411NFE2c.432C>G (p.Ser144=)
c.399C>G (p.Ser133=)
c.129C>G (p.Ser43=)
12g.54293064G=CA2037367876NFE2c.432C= (p.Ser144=)
c.399C= (p.Ser133=)
c.129C= (p.Ser43=)
12g.54293064G>TCA480094413NFE2c.432C>A (p.Ser144=)
c.399C>A (p.Ser133=)
c.129C>A (p.Ser43=)
 gnomAD v4
12g.54293065G>ACA385109200NFE2c.431C>T (p.Ser144Phe)
c.398C>T (p.Ser133Phe)
c.128C>T (p.Ser43Phe)
12g.54293065G>CCA385109201NFE2c.431C>G (p.Ser144Cys)
c.398C>G (p.Ser133Cys)
c.128C>G (p.Ser43Cys)
12g.54293065G>TCA385109202NFE2c.431C>A (p.Ser144Tyr)
c.398C>A (p.Ser133Tyr)
c.128C>A (p.Ser43Tyr)
12g.54293066A>CCA385109203NFE2c.430T>G (p.Ser144Ala)
c.397T>G (p.Ser133Ala)
c.127T>G (p.Ser43Ala)
12g.54293066A>GCA385109204NFE2c.430T>C (p.Ser144Pro)
c.397T>C (p.Ser133Pro)
c.127T>C (p.Ser43Pro)
12g.54293066A>TCA385109205NFE2c.430T>A (p.Ser144Thr)
c.397T>A (p.Ser133Thr)
c.127T>A (p.Ser43Thr)
12g.54293067T>ACA385109206NFE2c.429A>T (p.Glu143Asp)
c.396A>T (p.Glu132Asp)
c.126A>T (p.Glu42Asp)
12g.54293067T>CCA480094421NFE2c.429A>G (p.Glu143=)
c.396A>G (p.Glu132=)
c.126A>G (p.Glu42=)
12g.54293067T>GCA385109207NFE2c.429A>C (p.Glu143Asp)
c.396A>C (p.Glu132Asp)
c.126A>C (p.Glu42Asp)
12g.54293068T>ACA385109208NFE2c.428A>T (p.Glu143Val)
c.395A>T (p.Glu132Val)
c.125A>T (p.Glu42Val)
12g.54293068T>CCA385109209NFE2c.428A>G (p.Glu143Gly)
c.395A>G (p.Glu132Gly)
c.125A>G (p.Glu42Gly)
12g.54293068T>GCA385109210NFE2c.428A>C (p.Glu143Ala)
c.395A>C (p.Glu132Ala)
c.125A>C (p.Glu42Ala)
12g.54293069C>ACA385109212NFE2c.427G>T (p.Glu143Ter)
c.394G>T (p.Glu132Ter)
c.124G>T (p.Glu42Ter)
 COSMIC
12g.54293069C=CA2037367877NFE2c.427G= (p.Glu143=)
c.394G= (p.Glu132=)
c.124G= (p.Glu42=)
12g.54293069C>GCA385109213NFE2c.427G>C (p.Glu143Gln)
c.394G>C (p.Glu132Gln)
c.124G>C (p.Glu42Gln)
12g.54293069C>TCA385109211NFE2c.427G>A (p.Glu143Lys)
c.394G>A (p.Glu132Lys)
c.124G>A (p.Glu42Lys)
 dbSNP gnomAD v3 gnomAD v4
12g.54293070T>ACA480094428NFE2c.426A>T (p.Pro142=)
c.393A>T (p.Pro131=)
c.123A>T (p.Pro41=)
12g.54293070T>CCA480094429NFE2c.426A>G (p.Pro142=)
c.393A>G (p.Pro131=)
c.123A>G (p.Pro41=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.54293070T>GCA480094431NFE2c.426A>C (p.Pro142=)
c.393A>C (p.Pro131=)
c.123A>C (p.Pro41=)
12g.54293070T=CA2037367878NFE2c.426A= (p.Pro142=)
c.393A= (p.Pro131=)
c.123A= (p.Pro41=)
12g.54293071G>ACA6606584NFE2c.425C>T (p.Pro142Leu)
c.392C>T (p.Pro131Leu)
c.122C>T (p.Pro41Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.54293071G>CCA385109214NFE2c.425C>G (p.Pro142Arg)
c.392C>G (p.Pro131Arg)
c.122C>G (p.Pro41Arg)
12g.54293071G=CA2037367879NFE2c.425C= (p.Pro142=)
c.392C= (p.Pro131=)
c.122C= (p.Pro41=)
12g.54293071G>TCA385109215NFE2c.425C>A (p.Pro142Gln)
c.392C>A (p.Pro131Gln)
c.122C>A (p.Pro41Gln)
12g.54293072G>ACA385109216NFE2c.424C>T (p.Pro142Ser)
c.391C>T (p.Pro131Ser)
c.121C>T (p.Pro41Ser)
 dbSNP
12g.54293072G>CCA385109217NFE2c.424C>G (p.Pro142Ala)
c.391C>G (p.Pro131Ala)
c.121C>G (p.Pro41Ala)
12g.54293072G=CA2037367880NFE2c.424C= (p.Pro142=)
c.391C= (p.Pro131=)
c.121C= (p.Pro41=)
12g.54293072G>TCA385109218NFE2c.424C>A (p.Pro142Thr)
c.391C>A (p.Pro131Thr)
c.121C>A (p.Pro41Thr)
 gnomAD v4
12g.54293073G>ACA480094438NFE2c.423C>T (p.Asp141=)
c.390C>T (p.Asp130=)
c.120C>T (p.Asp40=)
 gnomAD v4
12g.54293073G>CCA385109219NFE2c.423C>G (p.Asp141Glu)
c.390C>G (p.Asp130Glu)
c.120C>G (p.Asp40Glu)
12g.54293073G>TCA385109220NFE2c.423C>A (p.Asp141Glu)
c.390C>A (p.Asp130Glu)
c.120C>A (p.Asp40Glu)
12g.54293074T>ACA237415231NFE2c.422A>T (p.Asp141Val)
c.389A>T (p.Asp130Val)
c.119A>T (p.Asp40Val)
 dbSNP
12g.54293074T>CCA385109221NFE2c.422A>G (p.Asp141Gly)
c.389A>G (p.Asp130Gly)
c.119A>G (p.Asp40Gly)
12g.54293074T>GCA385109222NFE2c.422A>C (p.Asp141Ala)
c.389A>C (p.Asp130Ala)
c.119A>C (p.Asp40Ala)
12g.54293074T=CA2037367881NFE2c.422A= (p.Asp141=)
c.389A= (p.Asp130=)
c.119A= (p.Asp40=)
12g.54293075C>ACA385109223NFE2c.421G>T (p.Asp141Tyr)
c.388G>T (p.Asp130Tyr)
c.118G>T (p.Asp40Tyr)
 gnomAD v4
12g.54293075C>GCA385109224NFE2c.421G>C (p.Asp141His)
c.388G>C (p.Asp130His)
c.118G>C (p.Asp40His)
12g.54293075C>TCA385109225NFE2c.421G>A (p.Asp141Asn)
c.388G>A (p.Asp130Asn)
c.118G>A (p.Asp40Asn)
12g.54293076T>ACA385109227NFE2c.420A>T (p.Glu140Asp)
c.387A>T (p.Glu129Asp)
c.117A>T (p.Glu39Asp)
12g.54293076T>CCA480094450NFE2c.420A>G (p.Glu140=)
c.387A>G (p.Glu129=)
c.117A>G (p.Glu39=)
12g.54293076T>GCA385109226NFE2c.420A>C (p.Glu140Asp)
c.387A>C (p.Glu129Asp)
c.117A>C (p.Glu39Asp)
 dbSNP
12g.54293076T=CA2037367882NFE2c.420A= (p.Glu140=)
c.387A= (p.Glu129=)
c.117A= (p.Glu39=)
12g.54293077T>ACA385109228NFE2c.419A>T (p.Glu140Val)
c.386A>T (p.Glu129Val)
c.116A>T (p.Glu39Val)
12g.54293077T>CCA385109229NFE2c.419A>G (p.Glu140Gly)
c.386A>G (p.Glu129Gly)
c.116A>G (p.Glu39Gly)
12g.54293077T>GCA385109230NFE2c.419A>C (p.Glu140Ala)
c.386A>C (p.Glu129Ala)
c.116A>C (p.Glu39Ala)
12g.54293078C>ACA385109231NFE2c.418G>T (p.Glu140Ter)
c.385G>T (p.Glu129Ter)
c.115G>T (p.Glu39Ter)
12g.54293078C>GCA385109232NFE2c.418G>C (p.Glu140Gln)
c.385G>C (p.Glu129Gln)
c.115G>C (p.Glu39Gln)
12g.54293078C>TCA385109233NFE2c.418G>A (p.Glu140Lys)
c.385G>A (p.Glu129Lys)
c.115G>A (p.Glu39Lys)
12g.54293079T>ACA385109235NFE2c.417A>T (p.Gln139His)
c.384A>T (p.Gln128His)
c.114A>T (p.Gln38His)
12g.54293079T>CCA6606585NFE2c.417A>G (p.Gln139=)
c.384A>G (p.Gln128=)
c.114A>G (p.Gln38=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.54293079T>GCA385109234NFE2c.417A>C (p.Gln139His)
c.384A>C (p.Gln128His)
c.114A>C (p.Gln38His)
12g.54293079T=CA2037367883NFE2c.417A= (p.Gln139=)
c.384A= (p.Gln128=)
c.114A= (p.Gln38=)
12g.54293080T>ACA385109236NFE2c.416A>T (p.Gln139Leu)
c.383A>T (p.Gln128Leu)
c.113A>T (p.Gln38Leu)
12g.54293080T>CCA385109237NFE2c.416A>G (p.Gln139Arg)
c.383A>G (p.Gln128Arg)
c.113A>G (p.Gln38Arg)
 gnomAD v4
12g.54293080T>GCA385109238NFE2c.416A>C (p.Gln139Pro)
c.383A>C (p.Gln128Pro)
c.113A>C (p.Gln38Pro)
12g.54293080_54293081delinsTGCA2037367884NFE2c.415_416delinsCA (p.Gln139=)
c.382_383delinsCA (p.Gln128=)
c.112_113delinsCA (p.Gln38=)
12g.54293081G>ACA385109239NFE2c.415C>T (p.Gln139Ter)
c.382C>T (p.Gln128Ter)
c.112C>T (p.Gln38Ter)
 COSMIC
12g.54293081G>CCA385109240NFE2c.415C>G (p.Gln139Glu)
c.382C>G (p.Gln128Glu)
c.112C>G (p.Gln38Glu)
12g.54293081G>TCA385109241NFE2c.415C>A (p.Gln139Lys)
c.382C>A (p.Gln128Lys)
c.112C>A (p.Gln38Lys)
 gnomAD v4
12g.54293084delCA919092029NFE2c.415del (p.Gln139LysfsTer?)
c.382del (p.Gln128LysfsTer?)
c.112del (p.Gln38LysfsTer?)
 dbSNP
12g.54293082G>ACA480094473NFE2c.414C>T (p.Pro138=)
c.381C>T (p.Pro127=)
c.111C>T (p.Pro37=)
 COSMIC
12g.54293082G>CCA480094475NFE2c.414C>G (p.Pro138=)
c.381C>G (p.Pro127=)
c.111C>G (p.Pro37=)
12g.54293082G>TCA480094477NFE2c.414C>A (p.Pro138=)
c.381C>A (p.Pro127=)
c.111C>A (p.Pro37=)
12g.54293083G>ACA6606586NFE2c.413C>T (p.Pro138Leu)
c.380C>T (p.Pro127Leu)
c.110C>T (p.Pro37Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.54293083G>CCA385109242NFE2c.413C>G (p.Pro138Arg)
c.380C>G (p.Pro127Arg)
c.110C>G (p.Pro37Arg)
 gnomAD v4
12g.54293083G=CA2037367885NFE2c.413C= (p.Pro138=)
c.380C= (p.Pro127=)
c.110C= (p.Pro37=)
12g.54293083G>TCA385109243NFE2c.413C>A (p.Pro138His)
c.380C>A (p.Pro127His)
c.110C>A (p.Pro37His)
 gnomAD v4
12g.54293084G>ACA385109244NFE2c.412C>T (p.Pro138Ser)
c.379C>T (p.Pro127Ser)
c.109C>T (p.Pro37Ser)
 dbSNP gnomAD v2 gnomAD v4
12g.54293084G>CCA385109245NFE2c.412C>G (p.Pro138Ala)
c.379C>G (p.Pro127Ala)
c.109C>G (p.Pro37Ala)
12g.54293084G=CA2037367886NFE2c.412C= (p.Pro138=)
c.379C= (p.Pro127=)
c.109C= (p.Pro37=)
12g.54293084G>TCA385109246NFE2c.412C>A (p.Pro138Thr)
c.379C>A (p.Pro127Thr)
c.109C>A (p.Pro37Thr)
12g.54293085C>ACA385109247NFE2c.411G>T (p.Lys137Asn)
c.378G>T (p.Lys126Asn)
c.108G>T (p.Lys36Asn)
 gnomAD v4
12g.54293085C>GCA385109248NFE2c.411G>C (p.Lys137Asn)
c.378G>C (p.Lys126Asn)
c.108G>C (p.Lys36Asn)
12g.54293085C>TCA480094487NFE2c.411G>A (p.Lys137=)
c.378G>A (p.Lys126=)
c.108G>A (p.Lys36=)
12g.54293086T>ACA385109250NFE2c.410A>T (p.Lys137Met)
c.377A>T (p.Lys126Met)
c.107A>T (p.Lys36Met)
12g.54293086T>CCA385109249NFE2c.410A>G (p.Lys137Arg)
c.377A>G (p.Lys126Arg)
c.107A>G (p.Lys36Arg)
12g.54293086T>GCA6606587NFE2c.410A>C (p.Lys137Thr)
c.377A>C (p.Lys126Thr)
c.107A>C (p.Lys36Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.54293086T=CA2037367887NFE2c.410A= (p.Lys137=)
c.377A= (p.Lys126=)
c.107A= (p.Lys36=)
12g.54293087T>ACA385109251NFE2c.409A>T (p.Lys137Ter)
c.376A>T (p.Lys126Ter)
c.106A>T (p.Lys36Ter)
12g.54293087T>CCA385109252NFE2c.409A>G (p.Lys137Glu)
c.376A>G (p.Lys126Glu)
c.106A>G (p.Lys36Glu)
 dbSNP gnomAD v4
12g.54293087T>GCA385109253NFE2c.409A>C (p.Lys137Gln)
c.376A>C (p.Lys126Gln)
c.106A>C (p.Lys36Gln)
12g.54293087T=CA2037367888NFE2c.409A= (p.Lys137=)
c.376A= (p.Lys126=)
c.106A= (p.Lys36=)
12g.54293088A>CCA480094501NFE2c.408T>G (p.Pro136=)
c.375T>G (p.Pro125=)
c.105T>G (p.Pro35=)
12g.54293088A>GCA480094502NFE2c.408T>C (p.Pro136=)
c.375T>C (p.Pro125=)
c.105T>C (p.Pro35=)
12g.54293088A>TCA480094506NFE2c.408T>A (p.Pro136=)
c.375T>A (p.Pro125=)
c.105T>A (p.Pro35=)
 COSMIC
12g.54293089G>ACA385109254NFE2c.407C>T (p.Pro136Leu)
c.374C>T (p.Pro125Leu)
c.104C>T (p.Pro35Leu)
12g.54293089G>CCA385109255NFE2c.407C>G (p.Pro136Arg)
c.374C>G (p.Pro125Arg)
c.104C>G (p.Pro35Arg)
12g.54293089G>TCA385109256NFE2c.407C>A (p.Pro136His)
c.374C>A (p.Pro125His)
c.104C>A (p.Pro35His)
12g.54293090G>ACA385109257NFE2c.406C>T (p.Pro136Ser)
c.373C>T (p.Pro125Ser)
c.103C>T (p.Pro35Ser)
 dbSNP gnomAD v2 gnomAD v4
12g.54293090G>CCA385109259NFE2c.406C>G (p.Pro136Ala)
c.373C>G (p.Pro125Ala)
c.103C>G (p.Pro35Ala)
12g.54293090G=CA2037367889NFE2c.406C= (p.Pro136=)
c.373C= (p.Pro125=)
c.103C= (p.Pro35=)
12g.54293090G>TCA385109258NFE2c.406C>A (p.Pro136Thr)
c.373C>A (p.Pro125Thr)
c.103C>A (p.Pro35Thr)
12g.54293090_54293099delCA645593836NFE2c.397_406del (p.Ala133LeufsTer?)
c.364_373del (p.Ala122LeufsTer?)
c.94_103del (p.Ala32LeufsTer?)
 COSMIC
12g.54293091T>ACA480094514NFE2c.405A>T (p.Pro135=)
c.372A>T (p.Pro124=)
c.102A>T (p.Pro34=)
12g.54293091T>CCA480094517NFE2c.405A>G (p.Pro135=)
c.372A>G (p.Pro124=)
c.102A>G (p.Pro34=)
12g.54293091T>GCA480094518NFE2c.405A>C (p.Pro135=)
c.372A>C (p.Pro124=)
c.102A>C (p.Pro34=)
12g.54293092G>ACA6606588NFE2c.404C>T (p.Pro135Leu)
c.371C>T (p.Pro124Leu)
c.101C>T (p.Pro34Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.54293092G>CCA385109260NFE2c.404C>G (p.Pro135Arg)
c.371C>G (p.Pro124Arg)
c.101C>G (p.Pro34Arg)
12g.54293092G=CA2037367890NFE2c.404C= (p.Pro135=)
c.371C= (p.Pro124=)
c.101C= (p.Pro34=)
12g.54293092G>TCA385109261NFE2c.404C>A (p.Pro135Gln)
c.371C>A (p.Pro124Gln)
c.101C>A (p.Pro34Gln)
12g.54293093G>ACA385109262NFE2c.403C>T (p.Pro135Ser)
c.370C>T (p.Pro124Ser)
c.100C>T (p.Pro34Ser)
 gnomAD v4
12g.54293093G>CCA385109263NFE2c.403C>G (p.Pro135Ala)
c.370C>G (p.Pro124Ala)
c.100C>G (p.Pro34Ala)
12g.54293093G>TCA385109264NFE2c.403C>A (p.Pro135Thr)
c.370C>A (p.Pro124Thr)
c.100C>A (p.Pro34Thr)
12g.54293094C>ACA480094529NFE2c.402G>T (p.Gly134=)
c.369G>T (p.Gly123=)
c.99G>T (p.Gly33=)
 gnomAD v4
12g.54293094C>GCA480094531NFE2c.402G>C (p.Gly134=)
c.369G>C (p.Gly123=)
c.99G>C (p.Gly33=)
12g.54293094C>TCA480094539NFE2c.402G>A (p.Gly134=)
c.369G>A (p.Gly123=)
c.99G>A (p.Gly33=)
 gnomAD v4
12g.54293095C>ACA385109267NFE2c.401G>T (p.Gly134Val)
c.368G>T (p.Gly123Val)
c.98G>T (p.Gly33Val)
 gnomAD v4
12g.54293095C>GCA385109266NFE2c.401G>C (p.Gly134Ala)
c.368G>C (p.Gly123Ala)
c.98G>C (p.Gly33Ala)
12g.54293095C>TCA385109265NFE2c.401G>A (p.Gly134Glu)
c.368G>A (p.Gly123Glu)
c.98G>A (p.Gly33Glu)
12g.54293096C>ACA385109268NFE2c.400G>T (p.Gly134Trp)
c.367G>T (p.Gly123Trp)
c.97G>T (p.Gly33Trp)
 gnomAD v4
12g.54293096C>GCA385109269NFE2c.400G>C (p.Gly134Arg)
c.367G>C (p.Gly123Arg)
c.97G>C (p.Gly33Arg)
12g.54293096C>TCA385109270NFE2c.400G>A (p.Gly134Arg)
c.367G>A (p.Gly123Arg)
c.97G>A (p.Gly33Arg)
 gnomAD v4
12g.54293097T>ACA480094548NFE2c.399A>T (p.Ala133=)
c.366A>T (p.Ala122=)
c.96A>T (p.Ala32=)
12g.54293097T>CCA480094547NFE2c.399A>G (p.Ala133=)
c.366A>G (p.Ala122=)
c.96A>G (p.Ala32=)
12g.54293097T>GCA480094544NFE2c.399A>C (p.Ala133=)
c.366A>C (p.Ala122=)
c.96A>C (p.Ala32=)
12g.54293098G>ACA385109271NFE2c.398C>T (p.Ala133Val)
c.365C>T (p.Ala122Val)
c.95C>T (p.Ala32Val)
 gnomAD v4
12g.54293098G>CCA385109272NFE2c.398C>G (p.Ala133Gly)
c.365C>G (p.Ala122Gly)
c.95C>G (p.Ala32Gly)
12g.54293098G>TCA385109273NFE2c.398C>A (p.Ala133Glu)
c.365C>A (p.Ala122Glu)
c.95C>A (p.Ala32Glu)
12g.54293099C>ACA385109274NFE2c.397G>T (p.Ala133Ser)
c.364G>T (p.Ala122Ser)
c.94G>T (p.Ala32Ser)
12g.54293099C>GCA385109276NFE2c.397G>C (p.Ala133Pro)
c.364G>C (p.Ala122Pro)
c.94G>C (p.Ala32Pro)
12g.54293099C>TCA385109275NFE2c.397G>A (p.Ala133Thr)
c.364G>A (p.Ala122Thr)
c.94G>A (p.Ala32Thr)
 gnomAD v4
12g.54293100T>ACA480094564NFE2c.396A>T (p.Pro132=)
c.363A>T (p.Pro121=)
c.93A>T (p.Pro31=)
12g.54293100T>CCA480094561NFE2c.396A>G (p.Pro132=)
c.363A>G (p.Pro121=)
c.93A>G (p.Pro31=)
 gnomAD v4
12g.54293100T>GCA480094560NFE2c.396A>C (p.Pro132=)
c.363A>C (p.Pro121=)
c.93A>C (p.Pro31=)
12g.54293101G>ACA385109277NFE2c.395C>T (p.Pro132Leu)
c.362C>T (p.Pro121Leu)
c.92C>T (p.Pro31Leu)
12g.54293101G>CCA385109278NFE2c.395C>G (p.Pro132Arg)
c.362C>G (p.Pro121Arg)
c.92C>G (p.Pro31Arg)
12g.54293101G>TCA385109279NFE2c.395C>A (p.Pro132Gln)
c.362C>A (p.Pro121Gln)
c.92C>A (p.Pro31Gln)
 gnomAD v4
12g.54293102_54293103insACATTGGGCA2796050821NFE2c.395_396insCAATGTCC (p.Ala133AsnfsTer?)
c.362_363insCAATGTCC (p.Ala122AsnfsTer?)
c.92_93insCAATGTCC (p.Ala32AsnfsTer?)
12g.54293102G>ACA385109280NFE2c.394C>T (p.Pro132Ser)
c.361C>T (p.Pro121Ser)
c.91C>T (p.Pro31Ser)
 gnomAD v4
12g.54293102G>CCA385109281NFE2c.394C>G (p.Pro132Ala)
c.361C>G (p.Pro121Ala)
c.91C>G (p.Pro31Ala)
12g.54293102G>TCA385109282NFE2c.394C>A (p.Pro132Thr)
c.361C>A (p.Pro121Thr)
c.91C>A (p.Pro31Thr)
12g.54293103C>ACA480094580NFE2c.393G>T (p.Leu131=)
c.360G>T (p.Leu120=)
c.90G>T (p.Leu30=)
12g.54293103C>GCA480094589NFE2c.393G>C (p.Leu131=)
c.360G>C (p.Leu120=)
c.90G>C (p.Leu30=)
12g.54293103C>TCA480094582NFE2c.393G>A (p.Leu131=)
c.360G>A (p.Leu120=)
c.90G>A (p.Leu30=)
 gnomAD v4
12g.54293104A=CA2037367891NFE2c.392T= (p.Leu131=)
c.359T= (p.Leu120=)
c.89T= (p.Leu30=)
12g.54293104A>CCA385109283NFE2c.392T>G (p.Leu131Arg)
c.359T>G (p.Leu120Arg)
c.89T>G (p.Leu30Arg)
12g.54293104A>GCA385109284NFE2c.392T>C (p.Leu131Pro)
c.359T>C (p.Leu120Pro)
c.89T>C (p.Leu30Pro)
 dbSNP
12g.54293104A>TCA385109285NFE2c.392T>A (p.Leu131Gln)
c.359T>A (p.Leu120Gln)
c.89T>A (p.Leu30Gln)
12g.54293105G>ACA480094594NFE2c.391C>T (p.Leu131=)
c.358C>T (p.Leu120=)
c.88C>T (p.Leu30=)
12g.54293105G>CCA385109286NFE2c.391C>G (p.Leu131Val)
c.358C>G (p.Leu120Val)
c.88C>G (p.Leu30Val)
12g.54293105G>TCA385109287NFE2c.391C>A (p.Leu131Met)
c.358C>A (p.Leu120Met)
c.88C>A (p.Leu30Met)
 gnomAD v4
12g.54293106C>ACA480094599NFE2c.390G>T (p.Gly130=)
c.357G>T (p.Gly119=)
c.87G>T (p.Gly29=)
12g.54293106C>GCA480094601NFE2c.390G>C (p.Gly130=)
c.357G>C (p.Gly119=)
c.87G>C (p.Gly29=)
12g.54293106C>TCA480094608NFE2c.390G>A (p.Gly130=)
c.357G>A (p.Gly119=)
c.87G>A (p.Gly29=)
 gnomAD v4
12g.54293107C>ACA385109288NFE2c.389G>T (p.Gly130Val)
c.356G>T (p.Gly119Val)
c.86G>T (p.Gly29Val)
 gnomAD v4
12g.54293107C=CA2037367892NFE2c.389G= (p.Gly130=)
c.356G= (p.Gly119=)
c.86G= (p.Gly29=)
12g.54293107C>GCA385109290NFE2c.389G>C (p.Gly130Ala)
c.356G>C (p.Gly119Ala)
c.86G>C (p.Gly29Ala)
 dbSNP gnomAD v2 gnomAD v4
12g.54293107C>TCA385109289NFE2c.389G>A (p.Gly130Glu)
c.356G>A (p.Gly119Glu)
c.86G>A (p.Gly29Glu)
 gnomAD v4
12g.54293108C>ACA385109291NFE2c.388G>T (p.Gly130Trp)
c.355G>T (p.Gly119Trp)
c.85G>T (p.Gly29Trp)
12g.54293108C>GCA385109293NFE2c.388G>C (p.Gly130Arg)
c.355G>C (p.Gly119Arg)
c.85G>C (p.Gly29Arg)
12g.54293108C>TCA385109292NFE2c.388G>A (p.Gly130Arg)
c.355G>A (p.Gly119Arg)
c.85G>A (p.Gly29Arg)
12g.54293109A=CA2037367893NFE2c.387T= (p.Ile129=)
c.354T= (p.Ile118=)
c.84T= (p.Ile28=)
12g.54293109A>CCA385109294NFE2c.387T>G (p.Ile129Met)
c.354T>G (p.Ile118Met)
c.84T>G (p.Ile28Met)
12g.54293109A>GCA6606589NFE2c.387T>C (p.Ile129=)
c.354T>C (p.Ile118=)
c.84T>C (p.Ile28=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.54293109A>TCA480094629NFE2c.387T>A (p.Ile129=)
c.354T>A (p.Ile118=)
c.84T>A (p.Ile28=)
12g.54293110A=CA2037367894NFE2c.386T= (p.Ile129=)
c.353T= (p.Ile118=)
c.83T= (p.Ile28=)
12g.54293110A>CCA385109295NFE2c.386T>G (p.Ile129Ser)
c.353T>G (p.Ile118Ser)
c.83T>G (p.Ile28Ser)
 gnomAD v4
12g.54293110A>GCA385109296NFE2c.386T>C (p.Ile129Thr)
c.353T>C (p.Ile118Thr)
c.83T>C (p.Ile28Thr)
 dbSNP gnomAD v4
12g.54293110A>TCA385109297NFE2c.386T>A (p.Ile129Asn)
c.353T>A (p.Ile118Asn)
c.83T>A (p.Ile28Asn)
 dbSNP gnomAD v3 gnomAD v4
12g.54293111T>ACA6606590NFE2c.385A>T (p.Ile129Phe)
c.352A>T (p.Ile118Phe)
c.82A>T (p.Ile28Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.54293111T>CCA385109298NFE2c.385A>G (p.Ile129Val)
c.352A>G (p.Ile118Val)
c.82A>G (p.Ile28Val)
 gnomAD v4
12g.54293111T>GCA385109299NFE2c.385A>C (p.Ile129Leu)
c.352A>C (p.Ile118Leu)
c.82A>C (p.Ile28Leu)
12g.54293111T=CA2037367895NFE2c.385A= (p.Ile129=)
c.352A= (p.Ile118=)
c.82A= (p.Ile28=)
12g.54293112G>ACA480094639NFE2c.384C>T (p.Asp128=)
c.351C>T (p.Asp117=)
c.81C>T (p.Asp27=)
12g.54293112G>CCA385109300NFE2c.384C>G (p.Asp128Glu)
c.351C>G (p.Asp117Glu)
c.81C>G (p.Asp27Glu)
12g.54293112G>TCA385109301NFE2c.384C>A (p.Asp128Glu)
c.351C>A (p.Asp117Glu)
c.81C>A (p.Asp27Glu)
 gnomAD v4
12g.54293113T>ACA385109302NFE2c.383A>T (p.Asp128Val)
c.350A>T (p.Asp117Val)
c.80A>T (p.Asp27Val)
12g.54293113T>CCA385109303NFE2c.383A>G (p.Asp128Gly)
c.350A>G (p.Asp117Gly)
c.80A>G (p.Asp27Gly)
12g.54293113T>GCA385109304NFE2c.383A>C (p.Asp128Ala)
c.350A>C (p.Asp117Ala)
c.80A>C (p.Asp27Ala)
12g.54293114C>ACA385109305NFE2c.382G>T (p.Asp128Tyr)
c.349G>T (p.Asp117Tyr)
c.79G>T (p.Asp27Tyr)
12g.54293114C>GCA385109307NFE2c.382G>C (p.Asp128His)
c.349G>C (p.Asp117His)
c.79G>C (p.Asp27His)
 gnomAD v4
12g.54293114C>TCA385109306NFE2c.382G>A (p.Asp128Asn)
c.349G>A (p.Asp117Asn)
c.79G>A (p.Asp27Asn)
12g.54293115C>ACA480094659NFE2c.381G>T (p.Leu127=)
c.348G>T (p.Leu116=)
c.78G>T (p.Leu26=)
12g.54293115C>GCA480094664NFE2c.381G>C (p.Leu127=)
c.348G>C (p.Leu116=)
c.78G>C (p.Leu26=)
12g.54293115C>TCA480094665NFE2c.381G>A (p.Leu127=)
c.348G>A (p.Leu116=)
c.78G>A (p.Leu26=)
12g.54293116A>CCA385109308NFE2c.380T>G (p.Leu127Arg)
c.347T>G (p.Leu116Arg)
c.77T>G (p.Leu26Arg)
12g.54293116A>GCA385109309NFE2c.380T>C (p.Leu127Pro)
c.347T>C (p.Leu116Pro)
c.77T>C (p.Leu26Pro)
 gnomAD v4
12g.54293116A>TCA385109310NFE2c.380T>A (p.Leu127Gln)
c.347T>A (p.Leu116Gln)
c.77T>A (p.Leu26Gln)
12g.54293117G>ACA480094673NFE2c.379C>T (p.Leu127=)
c.346C>T (p.Leu116=)
c.76C>T (p.Leu26=)
 gnomAD v4
12g.54293117G>CCA385109311NFE2c.379C>G (p.Leu127Val)
c.346C>G (p.Leu116Val)
c.76C>G (p.Leu26Val)
12g.54293117G>TCA385109312NFE2c.379C>A (p.Leu127Met)
c.346C>A (p.Leu116Met)
c.76C>A (p.Leu26Met)
 gnomAD v4
12g.54293118G>ACA480094683NFE2c.378C>T (p.Leu126=)
c.345C>T (p.Leu115=)
c.75C>T (p.Leu25=)
12g.54293118G>CCA480094684NFE2c.378C>G (p.Leu126=)
c.345C>G (p.Leu115=)
c.75C>G (p.Leu25=)
12g.54293118G>TCA480094686NFE2c.378C>A (p.Leu126=)
c.345C>A (p.Leu115=)
c.75C>A (p.Leu25=)
12g.54293119A>CCA385109313NFE2c.377T>G (p.Leu126Arg)
c.344T>G (p.Leu115Arg)
c.74T>G (p.Leu25Arg)
12g.54293119A>GCA385109314NFE2c.377T>C (p.Leu126Pro)
c.344T>C (p.Leu115Pro)
c.74T>C (p.Leu25Pro)
12g.54293119A>TCA385109315NFE2c.377T>A (p.Leu126His)
c.344T>A (p.Leu115His)
c.74T>A (p.Leu25His)
12g.54293120G>ACA237415274NFE2c.376C>T (p.Leu126Phe)
c.343C>T (p.Leu115Phe)
c.73C>T (p.Leu25Phe)
 dbSNP
12g.54293120G>CCA385109316NFE2c.376C>G (p.Leu126Val)
c.343C>G (p.Leu115Val)
c.73C>G (p.Leu25Val)
 gnomAD v4
12g.54293120G=CA2037367896NFE2c.376C= (p.Leu126=)
c.343C= (p.Leu115=)
c.73C= (p.Leu25=)
12g.54293120G>TCA385109317NFE2c.376C>A (p.Leu126Ile)
c.343C>A (p.Leu115Ile)
c.73C>A (p.Leu25Ile)
12g.54293121G>ACA6606591NFE2c.375C>T (p.Ala125=)
c.342C>T (p.Ala114=)
c.72C>T (p.Ala24=)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.54293121G>CCA480094702NFE2c.375C>G (p.Ala125=)
c.342C>G (p.Ala114=)
c.72C>G (p.Ala24=)
12g.54293121G=CA2037367897NFE2c.375C= (p.Ala125=)
c.342C= (p.Ala114=)
c.72C= (p.Ala24=)
12g.54293121G>TCA480094704NFE2c.375C>A (p.Ala125=)
c.342C>A (p.Ala114=)
c.72C>A (p.Ala24=)
 gnomAD v4
12g.54293121_54293122delinsAACA645593837NFE2c.374_375delinsTT (p.Ala125Val)
c.341_342delinsTT (p.Ala114Val)
c.71_72delinsTT (p.Ala24Val)
 COSMIC
12g.54293122G>ACA385109320NFE2c.374C>T (p.Ala125Val)
c.341C>T (p.Ala114Val)
c.71C>T (p.Ala24Val)
12g.54293122G>CCA385109318NFE2c.374C>G (p.Ala125Gly)
c.341C>G (p.Ala114Gly)
c.71C>G (p.Ala24Gly)
 gnomAD v4
12g.54293122G>TCA385109319NFE2c.374C>A (p.Ala125Asp)
c.341C>A (p.Ala114Asp)
c.71C>A (p.Ala24Asp)
 gnomAD v4
12g.54293123C>ACA385109321NFE2c.373G>T (p.Ala125Ser)
c.340G>T (p.Ala114Ser)
c.70G>T (p.Ala24Ser)
12g.54293123C>GCA385109322NFE2c.373G>C (p.Ala125Pro)
c.340G>C (p.Ala114Pro)
c.70G>C (p.Ala24Pro)
12g.54293123C>TCA385109323NFE2c.373G>A (p.Ala125Thr)
c.340G>A (p.Ala114Thr)
c.70G>A (p.Ala24Thr)
12g.54293124T>ACA385109324NFE2c.372A>T (p.Leu124Phe)
c.339A>T (p.Leu113Phe)
c.69A>T (p.Leu23Phe)
12g.54293124T>CCA480094712NFE2c.372A>G (p.Leu124=)
c.339A>G (p.Leu113=)
c.69A>G (p.Leu23=)
 gnomAD v4
12g.54293124T>GCA385109325NFE2c.372A>C (p.Leu124Phe)
c.339A>C (p.Leu113Phe)
c.69A>C (p.Leu23Phe)
12g.54293125A=CA2037367898NFE2c.371T= (p.Leu124=)
c.338T= (p.Leu113=)
c.68T= (p.Leu23=)
12g.54293125A>CCA385109326NFE2c.371T>G (p.Leu124Ter)
c.338T>G (p.Leu113Ter)
c.68T>G (p.Leu23Ter)
12g.54293125A>GCA6606592NFE2c.371T>C (p.Leu124Ser)
c.338T>C (p.Leu113Ser)
c.68T>C (p.Leu23Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.54293125A>TCA385109327NFE2c.371T>A (p.Leu124Ter)
c.338T>A (p.Leu113Ter)
c.68T>A (p.Leu23Ter)
12g.54293126A=CA2037367899NFE2c.370T= (p.Leu124=)
c.337T= (p.Leu113=)
c.67T= (p.Leu23=)
12g.54293126A>CCA385109328NFE2c.370T>G (p.Leu124Val)
c.337T>G (p.Leu113Val)
c.67T>G (p.Leu23Val)
 dbSNP gnomAD v4
12g.54293126A>GCA480094726NFE2c.370T>C (p.Leu124=)
c.337T>C (p.Leu113=)
c.67T>C (p.Leu23=)
 gnomAD v4
12g.54293126A>TCA385109329NFE2c.370T>A (p.Leu124Ile)
c.337T>A (p.Leu113Ile)
c.67T>A (p.Leu23Ile)
12g.54293127G>ACA480094730NFE2c.369C>T (p.Pro123=)
c.336C>T (p.Pro112=)
c.66C>T (p.Pro22=)
12g.54293127G>CCA480094732NFE2c.369C>G (p.Pro123=)
c.336C>G (p.Pro112=)
c.66C>G (p.Pro22=)
12g.54293127G>TCA480094734NFE2c.369C>A (p.Pro123=)
c.336C>A (p.Pro112=)
c.66C>A (p.Pro22=)
12g.54293130delCA645593838NFE2c.369del (p.Leu124Ter)
c.336del (p.Leu113Ter)
c.66del (p.Leu23Ter)
 COSMIC
12g.54293128G>ACA385109331NFE2c.368C>T (p.Pro123Leu)
c.335C>T (p.Pro112Leu)
c.65C>T (p.Pro22Leu)
 gnomAD v4
12g.54293128G>CCA385109332NFE2c.368C>G (p.Pro123Arg)
c.335C>G (p.Pro112Arg)
c.65C>G (p.Pro22Arg)
 gnomAD v4
12g.54293128G>TCA385109330NFE2c.368C>A (p.Pro123His)
c.335C>A (p.Pro112His)
c.65C>A (p.Pro22His)

Number of alleles fetched