Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.146018325G>ACA1053952HJVc.1033C>T (p.Arg345Trp)
c.355C>T (p.Arg119Trp)
c.694C>T (p.Arg232Trp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.146018325G>CCA29823291HJVc.1033C>G (p.Arg345Gly)
c.355C>G (p.Arg119Gly)
c.694C>G (p.Arg232Gly)
1g.146018325G=CA1198820914HJVc.1033C= (p.Arg345=)
c.355C= (p.Arg119=)
c.694C= (p.Arg232=)
1g.146018325G>TCA29823297HJVc.1033C>A (p.Arg345=)
c.355C>A (p.Arg119=)
c.694C>A (p.Arg232=)
1g.146018326T>ACA342134372HJVc.1032A>T (p.Arg344Ser)
c.354A>T (p.Arg118Ser)
c.693A>T (p.Arg231Ser)
1g.146018326T>CCA420603255HJVc.1032A>G (p.Arg344=)
c.354A>G (p.Arg118=)
c.693A>G (p.Arg231=)
 gnomAD v4
1g.146018326T>GCA342134381HJVc.1032A>C (p.Arg344Ser)
c.354A>C (p.Arg118Ser)
c.693A>C (p.Arg231Ser)
1g.146018327C>ACA29823321HJVc.1031G>T (p.Arg344Ile)
c.353G>T (p.Arg118Ile)
c.692G>T (p.Arg231Ile)
1g.146018327C=CA1198820915HJVc.1031G= (p.Arg344=)
c.353G= (p.Arg118=)
c.692G= (p.Arg231=)
1g.146018327C>GCA29823328HJVc.1031G>C (p.Arg344Thr)
c.353G>C (p.Arg118Thr)
c.692G>C (p.Arg231Thr)
1g.146018327C>TCA1053951HJVc.1031G>A (p.Arg344Lys)
c.353G>A (p.Arg118Lys)
c.692G>A (p.Arg231Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.146018328T>ACA342134404HJVc.1030A>T (p.Arg344Ter)
c.352A>T (p.Arg118Ter)
c.691A>T (p.Arg231Ter)
1g.146018328T>CCA342134406HJVc.1030A>G (p.Arg344Gly)
c.352A>G (p.Arg118Gly)
c.691A>G (p.Arg231Gly)
1g.146018328T>GCA420603258HJVc.1030A>C (p.Arg344=)
c.352A>C (p.Arg118=)
c.691A>C (p.Arg231=)
1g.146018329G>ACA420603261HJVc.1029C>T (p.Ala343=)
c.351C>T (p.Ala117=)
c.690C>T (p.Ala230=)
 ClinVar
1g.146018329G>CCA420603260HJVc.1029C>G (p.Ala343=)
c.351C>G (p.Ala117=)
c.690C>G (p.Ala230=)
1g.146018329G>TCA420603259HJVc.1029C>A (p.Ala343=)
c.351C>A (p.Ala117=)
c.690C>A (p.Ala230=)
1g.146018330G>ACA342134407HJVc.1028C>T (p.Ala343Val)
c.350C>T (p.Ala117Val)
c.689C>T (p.Ala230Val)
 COSMIC
1g.146018330G>CCA342134410HJVc.1028C>G (p.Ala343Gly)
c.350C>G (p.Ala117Gly)
c.689C>G (p.Ala230Gly)
1g.146018330G>TCA342134415HJVc.1028C>A (p.Ala343Asp)
c.350C>A (p.Ala117Asp)
c.689C>A (p.Ala230Asp)
1g.146018331C>ACA342134422HJVc.1027G>T (p.Ala343Ser)
c.349G>T (p.Ala117Ser)
c.688G>T (p.Ala230Ser)
1g.146018331C>GCA342134430HJVc.1027G>C (p.Ala343Pro)
c.349G>C (p.Ala117Pro)
c.688G>C (p.Ala230Pro)
1g.146018331C>TCA342134433HJVc.1027G>A (p.Ala343Thr)
c.349G>A (p.Ala117Thr)
c.688G>A (p.Ala230Thr)
1g.146018331_146018332delinsCACA1198820916HJVc.1026_1027delinsTG (p.Thr342=)
c.348_349delinsTG (p.Thr116=)
c.687_688delinsTG (p.Thr229=)
1g.146018332delCA916295389HJVc.1026del (p.Ala343ProfsTer24)
c.348del (p.Ala117ProfsTer24)
c.687del (p.Ala230ProfsTer24)
 dbSNP gnomAD v4
1g.146018332A>CCA420603267HJVc.1026T>G (p.Thr342=)
c.348T>G (p.Thr116=)
c.687T>G (p.Thr229=)
1g.146018332A>GCA420603268HJVc.1026T>C (p.Thr342=)
c.348T>C (p.Thr116=)
c.687T>C (p.Thr229=)
1g.146018332A>TCA420603269HJVc.1026T>A (p.Thr342=)
c.348T>A (p.Thr116=)
c.687T>A (p.Thr229=)
1g.146018333G>ACA342134456HJVc.1025C>T (p.Thr342Ile)
c.347C>T (p.Thr116Ile)
c.686C>T (p.Thr229Ile)
 dbSNP gnomAD v3 gnomAD v4
1g.146018333G>CCA342134455HJVc.1025C>G (p.Thr342Ser)
c.347C>G (p.Thr116Ser)
c.686C>G (p.Thr229Ser)
 dbSNP gnomAD v2 gnomAD v4
1g.146018333G=CA1198820917HJVc.1025C= (p.Thr342=)
c.347C= (p.Thr116=)
c.686C= (p.Thr229=)
1g.146018333G>TCA342134447HJVc.1025C>A (p.Thr342Asn)
c.347C>A (p.Thr116Asn)
c.686C>A (p.Thr229Asn)
1g.146018334T>ACA29823334HJVc.1024A>T (p.Thr342Ser)
c.346A>T (p.Thr116Ser)
c.685A>T (p.Thr229Ser)
1g.146018334T>CCA1053950HJVc.1024A>G (p.Thr342Ala)
c.346A>G (p.Thr116Ala)
c.685A>G (p.Thr229Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.146018334T>GCA29823337HJVc.1024A>C (p.Thr342Pro)
c.346A>C (p.Thr116Pro)
c.685A>C (p.Thr229Pro)
1g.146018334T=CA1198820918HJVc.1024A= (p.Thr342=)
c.346A= (p.Thr116=)
c.685A= (p.Thr229=)
1g.146018335A>CCA342134464HJVc.1023T>G (p.Asp341Glu)
c.345T>G (p.Asp115Glu)
c.684T>G (p.Asp228Glu)
1g.146018335A>GCA420603276HJVc.1023T>C (p.Asp341=)
c.345T>C (p.Asp115=)
c.684T>C (p.Asp228=)
 ClinVar dbSNP
1g.146018335A>TCA342134469HJVc.1023T>A (p.Asp341Glu)
c.345T>A (p.Asp115Glu)
c.684T>A (p.Asp228Glu)
1g.146018336T>ACA342134488HJVc.1022A>T (p.Asp341Val)
c.344A>T (p.Asp115Val)
c.683A>T (p.Asp228Val)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.146018336T>CCA342134489HJVc.1022A>G (p.Asp341Gly)
c.344A>G (p.Asp115Gly)
c.683A>G (p.Asp228Gly)
1g.146018336T>GCA342134491HJVc.1022A>C (p.Asp341Ala)
c.344A>C (p.Asp115Ala)
c.683A>C (p.Asp228Ala)
1g.146018336T=CA1198820919HJVc.1022A= (p.Asp341=)
c.344A= (p.Asp115=)
c.683A= (p.Asp228=)
1g.146018337C>ACA342134494HJVc.1021G>T (p.Asp341Tyr)
c.343G>T (p.Asp115Tyr)
c.682G>T (p.Asp228Tyr)
 dbSNP gnomAD v2 gnomAD v4
1g.146018337C=CA1198820920HJVc.1021G= (p.Asp341=)
c.343G= (p.Asp115=)
c.682G= (p.Asp228=)
1g.146018337C>GCA342134495HJVc.1021G>C (p.Asp341His)
c.343G>C (p.Asp115His)
c.682G>C (p.Asp228His)
1g.146018337C>TCA342134501HJVc.1021G>A (p.Asp341Asn)
c.343G>A (p.Asp115Asn)
c.682G>A (p.Asp228Asn)
1g.146018338A=CA1198820921HJVc.1020T= (p.Ile340=)
c.342T= (p.Ile114=)
c.681T= (p.Ile227=)
1g.146018338A>CCA29823355HJVc.1020T>G (p.Ile340Met)
c.342T>G (p.Ile114Met)
c.681T>G (p.Ile227Met)
1g.146018338A>GCA1053949HJVc.1020T>C (p.Ile340=)
c.342T>C (p.Ile114=)
c.681T>C (p.Ile227=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.146018338A>TCA29823374HJVc.1020T>A (p.Ile340=)
c.342T>A (p.Ile114=)
c.681T>A (p.Ile227=)
1g.146018339A=CA1198820922HJVc.1019T= (p.Ile340=)
c.341T= (p.Ile114=)
c.680T= (p.Ile227=)
1g.146018339A>CCA342134512HJVc.1019T>G (p.Ile340Ser)
c.341T>G (p.Ile114Ser)
c.680T>G (p.Ile227Ser)
1g.146018339A>GCA342134517HJVc.1019T>C (p.Ile340Thr)
c.341T>C (p.Ile114Thr)
c.680T>C (p.Ile227Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.146018339A>TCA342134509HJVc.1019T>A (p.Ile340Asn)
c.341T>A (p.Ile114Asn)
c.680T>A (p.Ile227Asn)
1g.146018340T>ACA342134518HJVc.1018A>T (p.Ile340Phe)
c.340A>T (p.Ile114Phe)
c.679A>T (p.Ile227Phe)
1g.146018340T>CCA342134519HJVc.1018A>G (p.Ile340Val)
c.340A>G (p.Ile114Val)
c.679A>G (p.Ile227Val)
 dbSNP gnomAD v3 gnomAD v4
1g.146018340T>GCA342134520HJVc.1018A>C (p.Ile340Leu)
c.340A>C (p.Ile114Leu)
c.679A>C (p.Ile227Leu)
1g.146018340T=CA1198820923HJVc.1018A= (p.Ile340=)
c.340A= (p.Ile114=)
c.679A= (p.Ile227=)
1g.146018341G>ACA1053948HJVc.1017C>T (p.Thr339=)
c.339C>T (p.Thr113=)
c.678C>T (p.Thr226=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.146018341G>CCA29823381HJVc.1017C>G (p.Thr339=)
c.339C>G (p.Thr113=)
c.678C>G (p.Thr226=)
1g.146018341G=CA1198820924HJVc.1017C= (p.Thr339=)
c.339C= (p.Thr113=)
c.678C= (p.Thr226=)
1g.146018341G>TCA29823398HJVc.1017C>A (p.Thr339=)
c.339C>A (p.Thr113=)
c.678C>A (p.Thr226=)
1g.146018342G>ACA29823411HJVc.1016C>T (p.Thr339Ile)
c.338C>T (p.Thr113Ile)
c.677C>T (p.Thr226Ile)
1g.146018342G>CCA29823415HJVc.1016C>G (p.Thr339Ser)
c.338C>G (p.Thr113Ser)
c.677C>G (p.Thr226Ser)
1g.146018342G=CA1198820925HJVc.1016C= (p.Thr339=)
c.338C= (p.Thr113=)
c.677C= (p.Thr226=)
1g.146018342G>TCA1053947HJVc.1016C>A (p.Thr339Asn)
c.338C>A (p.Thr113Asn)
c.677C>A (p.Thr226Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.146018343T>ACA342134545HJVc.1015A>T (p.Thr339Ser)
c.337A>T (p.Thr113Ser)
c.676A>T (p.Thr226Ser)
1g.146018343T>CCA342134559HJVc.1015A>G (p.Thr339Ala)
c.337A>G (p.Thr113Ala)
c.676A>G (p.Thr226Ala)
1g.146018343T>GCA342134572HJVc.1015A>C (p.Thr339Pro)
c.337A>C (p.Thr113Pro)
c.676A>C (p.Thr226Pro)
1g.146018344T>ACA420603278HJVc.1014A>T (p.Ile338=)
c.336A>T (p.Ile112=)
c.675A>T (p.Ile225=)
1g.146018344T>CCA342134576HJVc.1014A>G (p.Ile338Met)
c.336A>G (p.Ile112Met)
c.675A>G (p.Ile225Met)
 dbSNP gnomAD v2 gnomAD v4
1g.146018344T>GCA420603279HJVc.1014A>C (p.Ile338=)
c.336A>C (p.Ile112=)
c.675A>C (p.Ile225=)
1g.146018344T=CA1198820926HJVc.1014A= (p.Ile338=)
c.336A= (p.Ile112=)
c.675A= (p.Ile225=)
1g.146018345A>CCA342134582HJVc.1013T>G (p.Ile338Arg)
c.335T>G (p.Ile112Arg)
c.674T>G (p.Ile225Arg)
1g.146018345A>GCA342134577HJVc.1013T>C (p.Ile338Thr)
c.335T>C (p.Ile112Thr)
c.674T>C (p.Ile225Thr)
1g.146018345A>TCA342134578HJVc.1013T>A (p.Ile338Lys)
c.335T>A (p.Ile112Lys)
c.674T>A (p.Ile225Lys)
1g.146018346T>ACA29823433HJVc.1012A>T (p.Ile338Leu)
c.334A>T (p.Ile112Leu)
c.673A>T (p.Ile225Leu)
1g.146018346T>CCA1053946HJVc.1012A>G (p.Ile338Val)
c.334A>G (p.Ile112Val)
c.673A>G (p.Ile225Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.146018346T>GCA29823438HJVc.1012A>C (p.Ile338Leu)
c.334A>C (p.Ile112Leu)
c.673A>C (p.Ile225Leu)
1g.146018346T=CA1198820927HJVc.1012A= (p.Ile338=)
c.334A= (p.Ile112=)
c.673A= (p.Ile225=)
1g.146018347A=CA1198820928HJVc.1011T= (p.Ala337=)
c.333T= (p.Ala111=)
c.672T= (p.Ala224=)
1g.146018347A>CCA420603287HJVc.1011T>G (p.Ala337=)
c.333T>G (p.Ala111=)
c.672T>G (p.Ala224=)
1g.146018347A>GCA420603283HJVc.1011T>C (p.Ala337=)
c.333T>C (p.Ala111=)
c.672T>C (p.Ala224=)
1g.146018347A>TCA420603285HJVc.1011T>A (p.Ala337=)
c.333T>A (p.Ala111=)
c.672T>A (p.Ala224=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.146018348G>ACA342134587HJVc.1010C>T (p.Ala337Val)
c.332C>T (p.Ala111Val)
c.671C>T (p.Ala224Val)
 dbSNP
1g.146018348G>CCA342134594HJVc.1010C>G (p.Ala337Gly)
c.332C>G (p.Ala111Gly)
c.671C>G (p.Ala224Gly)
1g.146018348G=CA1198820929HJVc.1010C= (p.Ala337=)
c.332C= (p.Ala111=)
c.671C= (p.Ala224=)
1g.146018348G>TCA342134611HJVc.1010C>A (p.Ala337Asp)
c.332C>A (p.Ala111Asp)
c.671C>A (p.Ala224Asp)
1g.146018349C>ACA342134613HJVc.1009G>T (p.Ala337Ser)
c.331G>T (p.Ala111Ser)
c.670G>T (p.Ala224Ser)
 gnomAD v4
1g.146018349C>GCA342134616HJVc.1009G>C (p.Ala337Pro)
c.331G>C (p.Ala111Pro)
c.670G>C (p.Ala224Pro)
1g.146018349C>TCA342134631HJVc.1009G>A (p.Ala337Thr)
c.331G>A (p.Ala111Thr)
c.670G>A (p.Ala224Thr)
1g.146018350T>ACA420603295HJVc.1008A>T (p.Gly336=)
c.330A>T (p.Gly110=)
c.669A>T (p.Gly223=)
1g.146018350T>CCA420603293HJVc.1008A>G (p.Gly336=)
c.330A>G (p.Gly110=)
c.669A>G (p.Gly223=)
1g.146018350T>GCA420603291HJVc.1008A>C (p.Gly336=)
c.330A>C (p.Gly110=)
c.669A>C (p.Gly223=)
1g.146018350_146018351delinsTCCA1198820930HJVc.1007_1008delinsGA (p.Gly336=)
c.329_330delinsGA (p.Gly110=)
c.668_669delinsGA (p.Gly223=)
1g.146018351C>ACA342134635HJVc.1007G>T (p.Gly336Val)
c.329G>T (p.Gly110Val)
c.668G>T (p.Gly223Val)
 gnomAD v4
1g.146018351C>GCA342134637HJVc.1007G>C (p.Gly336Ala)
c.329G>C (p.Gly110Ala)
c.668G>C (p.Gly223Ala)
1g.146018351C>TCA342134639HJVc.1007G>A (p.Gly336Glu)
c.329G>A (p.Gly110Glu)
c.668G>A (p.Gly223Glu)
1g.146018354delCA888578969HJVc.1007del (p.Gly336GlufsTer3)
c.329del (p.Gly110GlufsTer3)
c.668del (p.Gly223GlufsTer3)
 dbSNP
1g.146018352C>ACA342134645HJVc.1006G>T (p.Gly336Ter)
c.328G>T (p.Gly110Ter)
c.667G>T (p.Gly223Ter)
 ClinVar dbSNP gnomAD v4
1g.146018352C=CA1198820931HJVc.1006G= (p.Gly336=)
c.328G= (p.Gly110=)
c.667G= (p.Gly223=)
1g.146018352C>GCA342134649HJVc.1006G>C (p.Gly336Arg)
c.328G>C (p.Gly110Arg)
c.667G>C (p.Gly223Arg)
1g.146018352C>TCA342134641HJVc.1006G>A (p.Gly336Arg)
c.328G>A (p.Gly110Arg)
c.667G>A (p.Gly223Arg)
 dbSNP gnomAD v4
1g.146018353C>ACA420603300HJVc.1005G>T (p.Arg335=)
c.327G>T (p.Arg109=)
c.666G>T (p.Arg222=)
1g.146018353C>GCA420603299HJVc.1005G>C (p.Arg335=)
c.327G>C (p.Arg109=)
c.666G>C (p.Arg222=)
1g.146018353C>TCA420603301HJVc.1005G>A (p.Arg335=)
c.327G>A (p.Arg109=)
c.666G>A (p.Arg222=)
 gnomAD v4
1g.146018354C>ACA29823450HJVc.1004G>T (p.Arg335Leu)
c.326G>T (p.Arg109Leu)
c.665G>T (p.Arg222Leu)
 dbSNP
1g.146018354C=CA1144171503HJVc.1004G= (p.Arg335=)
c.326G= (p.Arg109=)
c.665G= (p.Arg222=)
1g.146018354C>GCA29823453HJVc.1004G>C (p.Arg335Pro)
c.326G>C (p.Arg109Pro)
c.665G>C (p.Arg222Pro)
1g.146018354C>TCA1053945HJVc.1004G>A (p.Arg335Gln)
c.326G>A (p.Arg109Gln)
c.665G>A (p.Arg222Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.146018355G>ACA1053944HJVc.1003C>T (p.Arg335Trp)
c.325C>T (p.Arg109Trp)
c.664C>T (p.Arg222Trp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.146018355G>CCA342134659HJVc.1003C>G (p.Arg335Gly)
c.325C>G (p.Arg109Gly)
c.664C>G (p.Arg222Gly)
1g.146018355G=CA1198820932HJVc.1003C= (p.Arg335=)
c.325C= (p.Arg109=)
c.664C= (p.Arg222=)
1g.146018355G>TCA342134655HJVc.1003C>A (p.Arg335=)
c.325C>A (p.Arg109=)
c.664C>A (p.Arg222=)
1g.146018356A>CCA420603308HJVc.1002T>G (p.Arg334=)
c.324T>G (p.Arg108=)
c.663T>G (p.Arg221=)
1g.146018356A>GCA420603307HJVc.1002T>C (p.Arg334=)
c.324T>C (p.Arg108=)
c.663T>C (p.Arg221=)
1g.146018356A>TCA420603306HJVc.1002T>A (p.Arg334=)
c.324T>A (p.Arg108=)
c.663T>A (p.Arg221=)
1g.146018357C>ACA342134661HJVc.1001G>T (p.Arg334Leu)
c.323G>T (p.Arg108Leu)
c.662G>T (p.Arg221Leu)
 gnomAD v4
1g.146018357C=CA1198820933HJVc.1001G= (p.Arg334=)
c.323G= (p.Arg108=)
c.662G= (p.Arg221=)
1g.146018357C>GCA342134663HJVc.1001G>C (p.Arg334Pro)
c.323G>C (p.Arg108Pro)
c.662G>C (p.Arg221Pro)
1g.146018357C>TCA1053943HJVc.1001G>A (p.Arg334His)
c.323G>A (p.Arg108His)
c.662G>A (p.Arg221His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.146018358G>ACA342134666HJVc.1000C>T (p.Arg334Cys)
c.322C>T (p.Arg108Cys)
c.661C>T (p.Arg221Cys)
 dbSNP gnomAD v4 COSMIC
1g.146018358G>CCA342134671HJVc.1000C>G (p.Arg334Gly)
c.322C>G (p.Arg108Gly)
c.661C>G (p.Arg221Gly)
1g.146018358G=CA1198820934HJVc.1000C= (p.Arg334=)
c.322C= (p.Arg108=)
c.661C= (p.Arg221=)
1g.146018358G>TCA342134677HJVc.1000C>A (p.Arg334Ser)
c.322C>A (p.Arg108Ser)
c.661C>A (p.Arg221Ser)
 COSMIC
1g.146018359A>CCA342134680HJVc.999T>G (p.Asn333Lys)
c.321T>G (p.Asn107Lys)
c.660T>G (p.Asn220Lys)
1g.146018359A>GCA420603313HJVc.999T>C (p.Asn333=)
c.321T>C (p.Asn107=)
c.660T>C (p.Asn220=)
1g.146018359A>TCA342134694HJVc.999T>A (p.Asn333Lys)
c.321T>A (p.Asn107Lys)
c.660T>A (p.Asn220Lys)
 COSMIC
1g.146018360T>ACA29823460HJVc.998A>T (p.Asn333Ile)
c.320A>T (p.Asn107Ile)
c.659A>T (p.Asn220Ile)
1g.146018360T>CCA1053942HJVc.998A>G (p.Asn333Ser)
c.320A>G (p.Asn107Ser)
c.659A>G (p.Asn220Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.146018360T>GCA29823467HJVc.998A>C (p.Asn333Thr)
c.320A>C (p.Asn107Thr)
c.659A>C (p.Asn220Thr)
1g.146018360T=CA1198820935HJVc.998A= (p.Asn333=)
c.320A= (p.Asn107=)
c.659A= (p.Asn220=)
1g.146018361T>ACA342134726HJVc.997A>T (p.Asn333Tyr)
c.319A>T (p.Asn107Tyr)
c.658A>T (p.Asn220Tyr)
 ClinVar dbSNP
1g.146018361T>CCA342134722HJVc.997A>G (p.Asn333Asp)
c.319A>G (p.Asn107Asp)
c.658A>G (p.Asn220Asp)
1g.146018361T>GCA342134724HJVc.997A>C (p.Asn333His)
c.319A>C (p.Asn107His)
c.658A>C (p.Asn220His)
 gnomAD v4
1g.146018362G>ACA420603317HJVc.996C>T (p.Arg332=)
c.318C>T (p.Arg106=)
c.657C>T (p.Arg219=)
1g.146018362G>CCA420603315HJVc.996C>G (p.Arg332=)
c.318C>G (p.Arg106=)
c.657C>G (p.Arg219=)
1g.146018362G>TCA420603319HJVc.996C>A (p.Arg332=)
c.318C>A (p.Arg106=)
c.657C>A (p.Arg219=)
1g.146018363C>ACA29823472HJVc.995G>T (p.Arg332Leu)
c.317G>T (p.Arg106Leu)
c.656G>T (p.Arg219Leu)
 gnomAD v4
1g.146018363C=CA1198820936HJVc.995G= (p.Arg332=)
c.317G= (p.Arg106=)
c.656G= (p.Arg219=)
1g.146018363C>GCA29823488HJVc.995G>C (p.Arg332Pro)
c.317G>C (p.Arg106Pro)
c.656G>C (p.Arg219Pro)
1g.146018363C>TCA1053941HJVc.995G>A (p.Arg332His)
c.317G>A (p.Arg106His)
c.656G>A (p.Arg219His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.146018364G>ACA1053940HJVc.994C>T (p.Arg332Cys)
c.316C>T (p.Arg106Cys)
c.655C>T (p.Arg219Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.146018364G>CCA29823501HJVc.994C>G (p.Arg332Gly)
c.316C>G (p.Arg106Gly)
c.655C>G (p.Arg219Gly)
1g.146018364G=CA1198820937HJVc.994C= (p.Arg332=)
c.316C= (p.Arg106=)
c.655C= (p.Arg219=)
1g.146018364G>TCA29823507HJVc.994C>A (p.Arg332Ser)
c.316C>A (p.Arg106Ser)
c.655C>A (p.Arg219Ser)
 gnomAD v4
1g.146018365C>ACA29823512HJVc.993G>T (p.Glu331Asp)
c.315G>T (p.Glu105Asp)
c.654G>T (p.Glu218Asp)
1g.146018365C=CA1198820938HJVc.993G= (p.Glu331=)
c.315G= (p.Glu105=)
c.654G= (p.Glu218=)
1g.146018365C>GCA29823516HJVc.993G>C (p.Glu331Asp)
c.315G>C (p.Glu105Asp)
c.654G>C (p.Glu218Asp)
1g.146018365C>TCA1053939HJVc.993G>A (p.Glu331=)
c.315G>A (p.Glu105=)
c.654G>A (p.Glu218=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.146018366T>ACA342134747HJVc.992A>T (p.Glu331Val)
c.314A>T (p.Glu105Val)
c.653A>T (p.Glu218Val)
1g.146018366T>CCA29823519HJVc.992A>G (p.Glu331Gly)
c.314A>G (p.Glu105Gly)
c.653A>G (p.Glu218Gly)
 dbSNP gnomAD v2 gnomAD v4
1g.146018366T>GCA342134758HJVc.992A>C (p.Glu331Ala)
c.314A>C (p.Glu105Ala)
c.653A>C (p.Glu218Ala)
1g.146018366T=CA1143518203HJVc.992A= (p.Glu331=)
c.314A= (p.Glu105=)
c.653A= (p.Glu218=)
1g.146018367C>ACA342134774HJVc.991G>T (p.Glu331Ter)
c.313G>T (p.Glu105Ter)
c.652G>T (p.Glu218Ter)
1g.146018367C=CA1142012801HJVc.991G= (p.Glu331=)
c.313G= (p.Glu105=)
c.652G= (p.Glu218=)
1g.146018367C>GCA1053938HJVc.991G>C (p.Glu331Gln)
c.313G>C (p.Glu105Gln)
c.652G>C (p.Glu218Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.146018367C>TCA342134766HJVc.991G>A (p.Glu331Lys)
c.313G>A (p.Glu105Lys)
c.652G>A (p.Glu218Lys)
1g.146018368T>ACA420603326HJVc.990A>T (p.Ser330=)
c.312A>T (p.Ser104=)
c.651A>T (p.Ser217=)
1g.146018368T>CCA420603327HJVc.990A>G (p.Ser330=)
c.312A>G (p.Ser104=)
c.651A>G (p.Ser217=)
1g.146018368T>GCA420603325HJVc.990A>C (p.Ser330=)
c.312A>C (p.Ser104=)
c.651A>C (p.Ser217=)
1g.146018369G>ACA342134781HJVc.989C>T (p.Ser330Leu)
c.311C>T (p.Ser104Leu)
c.650C>T (p.Ser217Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.146018369G>CCA342134784HJVc.989C>G (p.Ser330Ter)
c.311C>G (p.Ser104Ter)
c.650C>G (p.Ser217Ter)
 gnomAD v4
1g.146018369G=CA1198820939HJVc.989C= (p.Ser330=)
c.311C= (p.Ser104=)
c.650C= (p.Ser217=)
1g.146018369G>TCA342134792HJVc.989C>A (p.Ser330Ter)
c.311C>A (p.Ser104Ter)
c.650C>A (p.Ser217Ter)
1g.146018370A>CCA342134797HJVc.988T>G (p.Ser330Ala)
c.310T>G (p.Ser104Ala)
c.649T>G (p.Ser217Ala)
1g.146018370A>GCA342134803HJVc.988T>C (p.Ser330Pro)
c.310T>C (p.Ser104Pro)
c.649T>C (p.Ser217Pro)
1g.146018370A>TCA342134806HJVc.988T>A (p.Ser330Thr)
c.310T>A (p.Ser104Thr)
c.649T>A (p.Ser217Thr)
1g.146018371T>ACA420603332HJVc.987A>T (p.Arg329=)
c.309A>T (p.Arg103=)
c.648A>T (p.Arg216=)
1g.146018371T>CCA420603330HJVc.987A>G (p.Arg329=)
c.309A>G (p.Arg103=)
c.648A>G (p.Arg216=)
1g.146018371T>GCA420603333HJVc.987A>C (p.Arg329=)
c.309A>C (p.Arg103=)
c.648A>C (p.Arg216=)
1g.146018372C>ACA1053937HJVc.986G>T (p.Arg329Leu)
c.308G>T (p.Arg103Leu)
c.647G>T (p.Arg216Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.146018372C=CA1198820940HJVc.986G= (p.Arg329=)
c.308G= (p.Arg103=)
c.647G= (p.Arg216=)
1g.146018372C>GCA1053936HJVc.986G>C (p.Arg329Pro)
c.308G>C (p.Arg103Pro)
c.647G>C (p.Arg216Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.146018372C>TCA1053935HJVc.986G>A (p.Arg329Gln)
c.308G>A (p.Arg103Gln)
c.647G>A (p.Arg216Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.146018372_146018376delinsCGAGACA1198820941HJVc.982_986delinsTCTCG (p.Ser328=)
c.304_308delinsTCTCG (p.Ser102=)
c.643_647delinsTCTCG (p.Ser215=)
1g.146018373G>ACA1053934HJVc.985C>T (p.Arg329Ter)
c.307C>T (p.Arg103Ter)
c.646C>T (p.Arg216Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.146018373G>CCA29823552HJVc.985C>G (p.Arg329Gly)
c.307C>G (p.Arg103Gly)
c.646C>G (p.Arg216Gly)
1g.146018373G=CA1198820942HJVc.985C= (p.Arg329=)
c.307C= (p.Arg103=)
c.646C= (p.Arg216=)
1g.146018373G>TCA29823542HJVc.985C>A (p.Arg329=)
c.307C>A (p.Arg103=)
c.646C>A (p.Arg216=)
1g.146018378_146018379delCA2580611193HJVc.984_985del (p.Arg329IlefsTer12)
c.306_307del (p.Arg103IlefsTer12)
c.645_646del (p.Arg216IlefsTer12)
 ClinVar dbSNP
1g.146018376_146018379delCA252259HJVc.982_985del (p.Ser328AspfsTer10)
c.304_307del (p.Ser102AspfsTer10)
c.643_646del (p.Ser215AspfsTer10)
 ClinVar dbSNP
1g.146018374A>CCA420603338HJVc.984T>G (p.Ser328=)
c.306T>G (p.Ser102=)
c.645T>G (p.Ser215=)
1g.146018374A>GCA420603339HJVc.984T>C (p.Ser328=)
c.306T>C (p.Ser102=)
c.645T>C (p.Ser215=)
1g.146018374A>TCA420603340HJVc.984T>A (p.Ser328=)
c.306T>A (p.Ser102=)
c.645T>A (p.Ser215=)
1g.146018375G>ACA342134856HJVc.983C>T (p.Ser328Phe)
c.305C>T (p.Ser102Phe)
c.644C>T (p.Ser215Phe)
 gnomAD v3 gnomAD v4
1g.146018375G>CCA342134851HJVc.983C>G (p.Ser328Cys)
c.305C>G (p.Ser102Cys)
c.644C>G (p.Ser215Cys)
1g.146018375G>TCA342134847HJVc.983C>A (p.Ser328Tyr)
c.305C>A (p.Ser102Tyr)
c.644C>A (p.Ser215Tyr)
1g.146018376A=CA1198820943HJVc.982T= (p.Ser328=)
c.304T= (p.Ser102=)
c.643T= (p.Ser215=)
1g.146018376A>CCA342134858HJVc.982T>G (p.Ser328Ala)
c.304T>G (p.Ser102Ala)
c.643T>G (p.Ser215Ala)
1g.146018376A>GCA342134861HJVc.982T>C (p.Ser328Pro)
c.304T>C (p.Ser102Pro)
c.643T>C (p.Ser215Pro)
 gnomAD v4
1g.146018376A>TCA1053933HJVc.982T>A (p.Ser328Thr)
c.304T>A (p.Ser102Thr)
c.643T>A (p.Ser215Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.146018377G>ACA420603346HJVc.981C>T (p.Leu327=)
c.303C>T (p.Leu101=)
c.642C>T (p.Leu214=)
1g.146018377G>CCA1053932HJVc.981C>G (p.Leu327=)
c.303C>G (p.Leu101=)
c.642C>G (p.Leu214=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.146018377G=CA1198820944HJVc.981C= (p.Leu327=)
c.303C= (p.Leu101=)
c.642C= (p.Leu214=)
1g.146018377G>TCA420603344HJVc.981C>A (p.Leu327=)
c.303C>A (p.Leu101=)
c.642C>A (p.Leu214=)
1g.146018378A=CA1198820945HJVc.980T= (p.Leu327=)
c.302T= (p.Leu101=)
c.641T= (p.Leu214=)
1g.146018378A>CCA29823557HJVc.980T>G (p.Leu327Arg)
c.302T>G (p.Leu101Arg)
c.641T>G (p.Leu214Arg)
1g.146018378A>GCA1053931HJVc.980T>C (p.Leu327Pro)
c.302T>C (p.Leu101Pro)
c.641T>C (p.Leu214Pro)
 dbSNP ExAC gnomAD v2
1g.146018378A>TCA29823562HJVc.980T>A (p.Leu327His)
c.302T>A (p.Leu101His)
c.641T>A (p.Leu214His)
1g.146018379G>ACA342134883HJVc.979C>T (p.Leu327Phe)
c.301C>T (p.Leu101Phe)
c.640C>T (p.Leu214Phe)
 gnomAD v4
1g.146018379G>CCA342134886HJVc.979C>G (p.Leu327Val)
c.301C>G (p.Leu101Val)
c.640C>G (p.Leu214Val)
1g.146018379G>TCA342134888HJVc.979C>A (p.Leu327Ile)
c.301C>A (p.Leu101Ile)
c.640C>A (p.Leu214Ile)
1g.146018379_146018380delCA2647575282HJVc.978_979del (p.Arg329IlefsTer12)
c.300_301del (p.Arg103IlefsTer12)
c.639_640del (p.Arg216IlefsTer12)
 gnomAD v4
1g.146018380delCA2647575285HJVc.978del (p.Leu327SerfsTer12)
c.300del (p.Leu101SerfsTer12)
c.639del (p.Leu214SerfsTer12)
 gnomAD v4
1g.146018380T>ACA420603353HJVc.978A>T (p.Arg326=)
c.300A>T (p.Arg100=)
c.639A>T (p.Arg213=)
1g.146018380T>CCA420603351HJVc.978A>G (p.Arg326=)
c.300A>G (p.Arg100=)
c.639A>G (p.Arg213=)
1g.146018380T>GCA420603350HJVc.978A>C (p.Arg326=)
c.300A>C (p.Arg100=)
c.639A>C (p.Arg213=)
1g.146018381C>ACA29823571HJVc.977G>T (p.Arg326Leu)
c.299G>T (p.Arg100Leu)
c.638G>T (p.Arg213Leu)
 gnomAD v4
1g.146018381C=CA1198820946HJVc.977G= (p.Arg326=)
c.299G= (p.Arg100=)
c.638G= (p.Arg213=)
1g.146018381C>GCA29823574HJVc.977G>C (p.Arg326Pro)
c.299G>C (p.Arg100Pro)
c.638G>C (p.Arg213Pro)
 gnomAD v4
1g.146018381C>TCA1053930HJVc.977G>A (p.Arg326Gln)
c.299G>A (p.Arg100Gln)
c.638G>A (p.Arg213Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.146018382G>ACA252250HJVc.976C>T (p.Arg326Ter)
c.298C>T (p.Arg100Ter)
c.637C>T (p.Arg213Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.146018382G>CCA342134906HJVc.976C>G (p.Arg326Gly)
c.298C>G (p.Arg100Gly)
c.637C>G (p.Arg213Gly)
1g.146018382G=CA1140886747HJVc.976C= (p.Arg326=)
c.298C= (p.Arg100=)
c.637C= (p.Arg213=)
1g.146018382G>TCA420603356HJVc.976C>A (p.Arg326=)
c.298C>A (p.Arg100=)
c.637C>A (p.Arg213=)
1g.146018383C>ACA342134913HJVc.975G>T (p.Gln325His)
c.297G>T (p.Gln99His)
c.636G>T (p.Gln212His)
 dbSNP
1g.146018383C>GCA342134929HJVc.975G>C (p.Gln325His)
c.297G>C (p.Gln99His)
c.636G>C (p.Gln212His)
 dbSNP gnomAD v4
1g.146018383C>TCA420603357HJVc.975G>A (p.Gln325=)
c.297G>A (p.Gln99=)
c.636G>A (p.Gln212=)
1g.146018384T>ACA342134937HJVc.974A>T (p.Gln325Leu)
c.296A>T (p.Gln99Leu)
c.635A>T (p.Gln212Leu)
1g.146018384T>CCA342134940HJVc.974A>G (p.Gln325Arg)
c.296A>G (p.Gln99Arg)
c.635A>G (p.Gln212Arg)
1g.146018384T>GCA342134944HJVc.974A>C (p.Gln325Pro)
c.296A>C (p.Gln99Pro)
c.635A>C (p.Gln212Pro)
1g.146018385G>ACA342134946HJVc.973C>T (p.Gln325Ter)
c.295C>T (p.Gln99Ter)
c.634C>T (p.Gln212Ter)
1g.146018385G>CCA342134947HJVc.973C>G (p.Gln325Glu)
c.295C>G (p.Gln99Glu)
c.634C>G (p.Gln212Glu)
1g.146018385G>TCA342134948HJVc.973C>A (p.Gln325Lys)
c.295C>A (p.Gln99Lys)
c.634C>A (p.Gln212Lys)
1g.146018386A>CCA342134949HJVc.972T>G (p.Ser324Arg)
c.294T>G (p.Ser98Arg)
c.633T>G (p.Ser211Arg)
1g.146018386A>GCA420603359HJVc.972T>C (p.Ser324=)
c.294T>C (p.Ser98=)
c.633T>C (p.Ser211=)
1g.146018386A>TCA342134951HJVc.972T>A (p.Ser324Arg)
c.294T>A (p.Ser98Arg)
c.633T>A (p.Ser211Arg)
1g.146018387C>ACA342134955HJVc.971G>T (p.Ser324Ile)
c.293G>T (p.Ser98Ile)
c.632G>T (p.Ser211Ile)
1g.146018387C>GCA342134958HJVc.971G>C (p.Ser324Thr)
c.293G>C (p.Ser98Thr)
c.632G>C (p.Ser211Thr)
1g.146018387C>TCA342134960HJVc.971G>A (p.Ser324Asn)
c.293G>A (p.Ser98Asn)
c.632G>A (p.Ser211Asn)
 gnomAD v4
1g.146018388T>ACA342134970HJVc.970A>T (p.Ser324Cys)
c.292A>T (p.Ser98Cys)
c.631A>T (p.Ser211Cys)
1g.146018388T>CCA342134967HJVc.970A>G (p.Ser324Gly)
c.292A>G (p.Ser98Gly)
c.631A>G (p.Ser211Gly)
1g.146018388T>GCA342134965HJVc.970A>C (p.Ser324Arg)
c.292A>C (p.Ser98Arg)
c.631A>C (p.Ser211Arg)
1g.146018389T>ACA420603365HJVc.969A>T (p.Pro323=)
c.291A>T (p.Pro97=)
c.630A>T (p.Pro210=)
1g.146018389T>CCA420603364HJVc.969A>G (p.Pro323=)
c.291A>G (p.Pro97=)
c.630A>G (p.Pro210=)
 gnomAD v4
1g.146018389T>GCA420603363HJVc.969A>C (p.Pro323=)
c.291A>C (p.Pro97=)
c.630A>C (p.Pro210=)
1g.146018390G>ACA342134973HJVc.968C>T (p.Pro323Leu)
c.290C>T (p.Pro97Leu)
c.629C>T (p.Pro210Leu)
 gnomAD v4
1g.146018390G>CCA342134979HJVc.968C>G (p.Pro323Arg)
c.290C>G (p.Pro97Arg)
c.629C>G (p.Pro210Arg)
 gnomAD v4
1g.146018390G=CA1198820947HJVc.968C= (p.Pro323=)
c.290C= (p.Pro97=)
c.629C= (p.Pro210=)
1g.146018390G>TCA342134987HJVc.968C>A (p.Pro323Gln)
c.290C>A (p.Pro97Gln)
c.629C>A (p.Pro210Gln)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
1g.146018391G>ACA342134990HJVc.967C>T (p.Pro323Ser)
c.289C>T (p.Pro97Ser)
c.628C>T (p.Pro210Ser)
1g.146018391G>CCA342135000HJVc.967C>G (p.Pro323Ala)
c.289C>G (p.Pro97Ala)
c.628C>G (p.Pro210Ala)
1g.146018391G>TCA342135005HJVc.967C>A (p.Pro323Thr)
c.289C>A (p.Pro97Thr)
c.628C>A (p.Pro210Thr)
1g.146018392A>CCA420603369HJVc.966T>G (p.Pro322=)
c.288T>G (p.Pro96=)
c.627T>G (p.Pro209=)
1g.146018392A>GCA420603368HJVc.966T>C (p.Pro322=)
c.288T>C (p.Pro96=)
c.627T>C (p.Pro209=)
1g.146018392A>TCA420603367HJVc.966T>A (p.Pro322=)
c.288T>A (p.Pro96=)
c.627T>A (p.Pro209=)
1g.146018393G>ACA342135014HJVc.965C>T (p.Pro322Leu)
c.287C>T (p.Pro96Leu)
c.626C>T (p.Pro209Leu)
 COSMIC
1g.146018393G>CCA342135018HJVc.965C>G (p.Pro322Arg)
c.287C>G (p.Pro96Arg)
c.626C>G (p.Pro209Arg)
1g.146018393G>TCA342135020HJVc.965C>A (p.Pro322His)
c.287C>A (p.Pro96His)
c.626C>A (p.Pro209His)
1g.146018395delCA2574047893HJVc.965del (p.Pro322LeufsTer17)
c.287del (p.Pro96LeufsTer17)
c.626del (p.Pro209LeufsTer17)
1g.146018394G>ACA342135025HJVc.964C>T (p.Pro322Ser)
c.286C>T (p.Pro96Ser)
c.625C>T (p.Pro209Ser)
1g.146018394G>CCA342135031HJVc.964C>G (p.Pro322Ala)
c.286C>G (p.Pro96Ala)
c.625C>G (p.Pro209Ala)
1g.146018394G=CA1198820948HJVc.964C= (p.Pro322=)
c.286C= (p.Pro96=)
c.625C= (p.Pro209=)
1g.146018394G>TCA342135033HJVc.964C>A (p.Pro322Thr)
c.286C>A (p.Pro96Thr)
c.625C>A (p.Pro209Thr)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.146018395G>ACA420603374HJVc.963C>T (p.Cys321=)
c.285C>T (p.Cys95=)
c.624C>T (p.Cys208=)
1g.146018395G>CCA1053929HJVc.963C>G (p.Cys321Trp)
c.285C>G (p.Cys95Trp)
c.624C>G (p.Cys208Trp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.146018395G=CA1141581027HJVc.963C= (p.Cys321=)
c.285C= (p.Cys95=)
c.624C= (p.Cys208=)
1g.146018395G>TCA252257HJVc.963C>A (p.Cys321Ter)
c.285C>A (p.Cys95Ter)
c.624C>A (p.Cys208Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.146018395_146018396delinsTTCA2586967192HJVc.962_963delinsAA (p.Cys321Ter)
c.284_285delinsAA (p.Cys95Ter)
c.623_624delinsAA (p.Cys208Ter)
 ClinVar
1g.146018396C>ACA29823605HJVc.962G>T (p.Cys321Phe)
c.284G>T (p.Cys95Phe)
c.623G>T (p.Cys208Phe)
1g.146018396C=CA1198820949HJVc.962G= (p.Cys321=)
c.284G= (p.Cys95=)
c.623G= (p.Cys208=)
1g.146018396C>GCA29823613HJVc.962G>C (p.Cys321Ser)
c.284G>C (p.Cys95Ser)
c.623G>C (p.Cys208Ser)
1g.146018396C>TCA1053928HJVc.962G>A (p.Cys321Tyr)
c.284G>A (p.Cys95Tyr)
c.623G>A (p.Cys208Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.146018397A>CCA342135083HJVc.961T>G (p.Cys321Gly)
c.283T>G (p.Cys95Gly)
c.622T>G (p.Cys208Gly)
1g.146018397A>GCA342135087HJVc.961T>C (p.Cys321Arg)
c.283T>C (p.Cys95Arg)
c.622T>C (p.Cys208Arg)
1g.146018397A>TCA342135090HJVc.961T>A (p.Cys321Ser)
c.283T>A (p.Cys95Ser)
c.622T>A (p.Cys208Ser)
1g.146018397_146018398delinsACCA1198820950HJVc.960_961delinsGT (p.Gly320=)
c.282_283delinsGT (p.Gly94=)
c.621_622delinsGT (p.Gly207=)
1g.146018398C>ACA1053927HJVc.960G>T (p.Gly320=)
c.282G>T (p.Gly94=)
c.621G>T (p.Gly207=)
 ClinVar dbSNP ExAC gnomAD v4
1g.146018398C=CA1198820951HJVc.960G= (p.Gly320=)
c.282G= (p.Gly94=)
c.621G= (p.Gly207=)
1g.146018398C>GCA29823624HJVc.960G>C (p.Gly320=)
c.282G>C (p.Gly94=)
c.621G>C (p.Gly207=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.146018398C>TCA29823629HJVc.960G>A (p.Gly320=)
c.282G>A (p.Gly94=)
c.621G>A (p.Gly207=)
 ClinVar dbSNP gnomAD v4
1g.146018403dupCA1053924HJVc.960dup (p.Cys321ValfsTer21)
c.282dup (p.Cys95ValfsTer21)
c.621dup (p.Cys208ValfsTer21)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.146018403delCA526253952HJVc.960del (p.Cys321AlafsTer18)
c.282del (p.Cys95AlafsTer18)
c.621del (p.Cys208AlafsTer18)
 dbSNP gnomAD v2 gnomAD v4
1g.146018399C>ACA252249HJVc.959G>T (p.Gly320Val)
c.281G>T (p.Gly94Val)
c.620G>T (p.Gly207Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.146018399C=CA1140886749HJVc.959G= (p.Gly320=)
c.281G= (p.Gly94=)
c.620G= (p.Gly207=)
1g.146018399C>GCA342135108HJVc.959G>C (p.Gly320Ala)
c.281G>C (p.Gly94Ala)
c.620G>C (p.Gly207Ala)
 gnomAD v4
1g.146018399C>TCA342135102HJVc.959G>A (p.Gly320Glu)
c.281G>A (p.Gly94Glu)
c.620G>A (p.Gly207Glu)
 gnomAD v4
1g.146018399_146018400insACA2745933938HJVc.958_959insT (p.Gly320ValfsTer22)
c.280_281insT (p.Gly94ValfsTer22)
c.619_620insT (p.Gly207ValfsTer22)
1g.146018400C>ACA1053926HJVc.958G>T (p.Gly320Trp)
c.280G>T (p.Gly94Trp)
c.619G>T (p.Gly207Trp)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.146018400C=CA1198820952HJVc.958G= (p.Gly320=)
c.280G= (p.Gly94=)
c.619G= (p.Gly207=)
1g.146018400C>GCA29823639HJVc.958G>C (p.Gly320Arg)
c.280G>C (p.Gly94Arg)
c.619G>C (p.Gly207Arg)
1g.146018400C>TCA29823642HJVc.958G>A (p.Gly320Arg)
c.280G>A (p.Gly94Arg)
c.619G>A (p.Gly207Arg)
 gnomAD v4
1g.146018401C>ACA420603383HJVc.957G>T (p.Gly319=)
c.279G>T (p.Gly93=)
c.618G>T (p.Gly206=)
1g.146018401C>GCA420603384HJVc.957G>C (p.Gly319=)
c.279G>C (p.Gly93=)
c.618G>C (p.Gly206=)
1g.146018401C>TCA420603382HJVc.957G>A (p.Gly319=)
c.279G>A (p.Gly93=)
c.618G>A (p.Gly206=)
1g.146018402_146018403insACCCCAAACACACCCA2745933939HJVc.957_958insTGTGTTTGGGGTGG (p.Gly320CysfsTer24)
c.279_280insTGTGTTTGGGGTGG (p.Gly94CysfsTer24)
c.618_619insTGTGTTTGGGGTGG (p.Gly207CysfsTer24)
1g.146018402C>ACA342135136HJVc.956G>T (p.Gly319Val)
c.278G>T (p.Gly93Val)
c.617G>T (p.Gly206Val)
1g.146018402C=CA1141668450HJVc.956G= (p.Gly319=)
c.278G= (p.Gly93=)
c.617G= (p.Gly206=)
1g.146018402C>GCA1053925HJVc.956G>C (p.Gly319Ala)
c.278G>C (p.Gly93Ala)
c.617G>C (p.Gly206Ala)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.146018402C>TCA342135140HJVc.956G>A (p.Gly319Glu)
c.278G>A (p.Gly93Glu)
c.617G>A (p.Gly206Glu)
 COSMIC
1g.146018402_146018403insGCA342135141HJVc.955_956insC (p.Gly319AlafsTer23)
c.277_278insC (p.Gly93AlafsTer23)
c.616_617insC (p.Gly206AlafsTer23)
1g.146018403C>ACA342135149HJVc.955G>T (p.Gly319Trp)
c.277G>T (p.Gly93Trp)
c.616G>T (p.Gly206Trp)
1g.146018403C=CA1198820953HJVc.955G= (p.Gly319=)
c.277G= (p.Gly93=)
c.616G= (p.Gly206=)
1g.146018403C>GCA342135148HJVc.955G>C (p.Gly319Arg)
c.277G>C (p.Gly93Arg)
c.616G>C (p.Gly206Arg)
1g.146018403C>TCA342135143HJVc.955G>A (p.Gly319Arg)
c.277G>A (p.Gly93Arg)
c.616G>A (p.Gly206Arg)
 dbSNP gnomAD v2 gnomAD v4
1g.146018403_146018404insGCA29823652HJVc.954_955insC (p.Gly319ArgfsTer23)
c.276_277insC (p.Gly93ArgfsTer23)
c.615_616insC (p.Gly206ArgfsTer23)
1g.146018404A=CA1198820954HJVc.954T= (p.Val318=)
c.276T= (p.Val92=)
c.615T= (p.Val205=)
1g.146018404A>CCA420603389HJVc.954T>G (p.Val318=)
c.276T>G (p.Val92=)
c.615T>G (p.Val205=)
1g.146018404A>GCA420603388HJVc.954T>C (p.Val318=)
c.276T>C (p.Val92=)
c.615T>C (p.Val205=)
 gnomAD v4
1g.146018404A>TCA420603390HJVc.954T>A (p.Val318=)
c.276T>A (p.Val92=)
c.615T>A (p.Val205=)
 dbSNP gnomAD v4
1g.146018405A=CA1198820955HJVc.953T= (p.Val318=)
c.275T= (p.Val92=)
c.614T= (p.Val205=)
1g.146018405A>CCA342135167HJVc.953T>G (p.Val318Gly)
c.275T>G (p.Val92Gly)
c.614T>G (p.Val205Gly)
1g.146018405A>GCA342135173HJVc.953T>C (p.Val318Ala)
c.275T>C (p.Val92Ala)
c.614T>C (p.Val205Ala)
 dbSNP gnomAD v4
1g.146018405A>TCA342135180HJVc.953T>A (p.Val318Asp)
c.275T>A (p.Val92Asp)
c.614T>A (p.Val205Asp)
1g.146018406C>ACA342135184HJVc.952G>T (p.Val318Phe)
c.274G>T (p.Val92Phe)
c.613G>T (p.Val205Phe)
1g.146018406C>GCA342135188HJVc.952G>C (p.Val318Leu)
c.274G>C (p.Val92Leu)
c.613G>C (p.Val205Leu)
1g.146018406C>TCA342135191HJVc.952G>A (p.Val318Ile)
c.274G>A (p.Val92Ile)
c.613G>A (p.Val205Ile)
 gnomAD v4
1g.146018407A>CCA342135197HJVc.951T>G (p.Cys317Trp)
c.273T>G (p.Cys91Trp)
c.612T>G (p.Cys204Trp)
1g.146018407A>GCA420603395HJVc.951T>C (p.Cys317=)
c.273T>C (p.Cys91=)
c.612T>C (p.Cys204=)
1g.146018407A>TCA342135215HJVc.951T>A (p.Cys317Ter)
c.273T>A (p.Cys91Ter)
c.612T>A (p.Cys204Ter)
1g.146018408C>ACA342135227HJVc.950G>T (p.Cys317Phe)
c.272G>T (p.Cys91Phe)
c.611G>T (p.Cys204Phe)
1g.146018408C=CA1198820956HJVc.950G= (p.Cys317=)
c.272G= (p.Cys91=)
c.611G= (p.Cys204=)
1g.146018408C>GCA342135226HJVc.950G>C (p.Cys317Ser)
c.272G>C (p.Cys91Ser)
c.611G>C (p.Cys204Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.146018408C>TCA342135224HJVc.950G>A (p.Cys317Tyr)
c.272G>A (p.Cys91Tyr)
c.611G>A (p.Cys204Tyr)
 ClinVar dbSNP
1g.146018409A>CCA342135229HJVc.949T>G (p.Cys317Gly)
c.271T>G (p.Cys91Gly)
c.610T>G (p.Cys204Gly)
1g.146018409A>GCA342135245HJVc.949T>C (p.Cys317Arg)
c.271T>C (p.Cys91Arg)
c.610T>C (p.Cys204Arg)
1g.146018409A>TCA342135244HJVc.949T>A (p.Cys317Ser)
c.271T>A (p.Cys91Ser)
c.610T>A (p.Cys204Ser)
1g.146018410G>ACA420603400HJVc.948C>T (p.Leu316=)
c.270C>T (p.Leu90=)
c.609C>T (p.Leu203=)
1g.146018410G>CCA420603401HJVc.948C>G (p.Leu316=)
c.270C>G (p.Leu90=)
c.609C>G (p.Leu203=)
1g.146018410G>TCA420603399HJVc.948C>A (p.Leu316=)
c.270C>A (p.Leu90=)
c.609C>A (p.Leu203=)
1g.146018411A>CCA342135246HJVc.947T>G (p.Leu316Arg)
c.269T>G (p.Leu90Arg)
c.608T>G (p.Leu203Arg)
1g.146018411A>GCA342135248HJVc.947T>C (p.Leu316Pro)
c.269T>C (p.Leu90Pro)
c.608T>C (p.Leu203Pro)
1g.146018411A>TCA342135247HJVc.947T>A (p.Leu316His)
c.269T>A (p.Leu90His)
c.608T>A (p.Leu203His)
1g.146018412G>ACA342135252HJVc.946C>T (p.Leu316Phe)
c.268C>T (p.Leu90Phe)
c.607C>T (p.Leu203Phe)
1g.146018412G>CCA342135255HJVc.946C>G (p.Leu316Val)
c.268C>G (p.Leu90Val)
c.607C>G (p.Leu203Val)
1g.146018412G>TCA342135257HJVc.946C>A (p.Leu316Ile)
c.268C>A (p.Leu90Ile)
c.607C>A (p.Leu203Ile)
1g.146018413C>ACA342135258HJVc.945G>T (p.Gln315His)
c.267G>T (p.Gln89His)
c.606G>T (p.Gln202His)
1g.146018413C=CA1198820957HJVc.945G= (p.Gln315=)
c.267G= (p.Gln89=)
c.606G= (p.Gln202=)
1g.146018413C>GCA342135259HJVc.945G>C (p.Gln315His)
c.267G>C (p.Gln89His)
c.606G>C (p.Gln202His)
1g.146018413C>TCA420603404HJVc.945G>A (p.Gln315=)
c.267G>A (p.Gln89=)
c.606G>A (p.Gln202=)
 dbSNP
1g.146018414T>ACA342135260HJVc.944A>T (p.Gln315Leu)
c.266A>T (p.Gln89Leu)
c.605A>T (p.Gln202Leu)
1g.146018414T>CCA342135261HJVc.944A>G (p.Gln315Arg)
c.266A>G (p.Gln89Arg)
c.605A>G (p.Gln202Arg)
1g.146018414T>GCA342135263HJVc.944A>C (p.Gln315Pro)
c.266A>C (p.Gln89Pro)
c.605A>C (p.Gln202Pro)
1g.146018415G>ACA342135296HJVc.943C>T (p.Gln315Ter)
c.265C>T (p.Gln89Ter)
c.604C>T (p.Gln202Ter)
1g.146018415G>CCA342135300HJVc.943C>G (p.Gln315Glu)
c.265C>G (p.Gln89Glu)
c.604C>G (p.Gln202Glu)
1g.146018415G>TCA342135315HJVc.943C>A (p.Gln315Lys)
c.265C>A (p.Gln89Lys)
c.604C>A (p.Gln202Lys)
1g.146018416C>ACA420603412HJVc.942G>T (p.Leu314=)
c.264G>T (p.Leu88=)
c.603G>T (p.Leu201=)
1g.146018416C>GCA420603411HJVc.942G>C (p.Leu314=)
c.264G>C (p.Leu88=)
c.603G>C (p.Leu201=)
1g.146018416C>TCA420603410HJVc.942G>A (p.Leu314=)
c.264G>A (p.Leu88=)
c.603G>A (p.Leu201=)
 ClinVar dbSNP
1g.146018417A>CCA342135341HJVc.941T>G (p.Leu314Arg)
c.263T>G (p.Leu88Arg)
c.602T>G (p.Leu201Arg)
1g.146018417A>GCA342135328HJVc.941T>C (p.Leu314Pro)
c.263T>C (p.Leu88Pro)
c.602T>C (p.Leu201Pro)
1g.146018417A>TCA342135338HJVc.941T>A (p.Leu314Gln)
c.263T>A (p.Leu88Gln)
c.602T>A (p.Leu201Gln)
1g.146018418G>ACA420603416HJVc.940C>T (p.Leu314=)
c.262C>T (p.Leu88=)
c.601C>T (p.Leu201=)
 ClinVar dbSNP
1g.146018418G>CCA342135347HJVc.940C>G (p.Leu314Val)
c.262C>G (p.Leu88Val)
c.601C>G (p.Leu201Val)
1g.146018418G=CA1198820958HJVc.940C= (p.Leu314=)
c.262C= (p.Leu88=)
c.601C= (p.Leu201=)
1g.146018418G>TCA342135357HJVc.940C>A (p.Leu314Met)
c.262C>A (p.Leu88Met)
c.601C>A (p.Leu201Met)
1g.146018419G>ACA420603421HJVc.939C>T (p.Asp313=)
c.261C>T (p.Asp87=)
c.600C>T (p.Asp200=)
1g.146018419G>CCA342135371HJVc.939C>G (p.Asp313Glu)
c.261C>G (p.Asp87Glu)
c.600C>G (p.Asp200Glu)
1g.146018419G>TCA342135372HJVc.939C>A (p.Asp313Glu)
c.261C>A (p.Asp87Glu)
c.600C>A (p.Asp200Glu)
 gnomAD v4
1g.146018420T>ACA342135373HJVc.938A>T (p.Asp313Val)
c.260A>T (p.Asp87Val)
c.599A>T (p.Asp200Val)
1g.146018420T>CCA342135374HJVc.938A>G (p.Asp313Gly)
c.260A>G (p.Asp87Gly)
c.599A>G (p.Asp200Gly)
1g.146018420T>GCA342135375HJVc.938A>C (p.Asp313Ala)
c.260A>C (p.Asp87Ala)
c.599A>C (p.Asp200Ala)
 dbSNP
1g.146018420T=CA1198820959HJVc.938A= (p.Asp313=)
c.260A= (p.Asp87=)
c.599A= (p.Asp200=)
1g.146018421C>ACA29823658HJVc.937G>T (p.Asp313Tyr)
c.259G>T (p.Asp87Tyr)
c.598G>T (p.Asp200Tyr)
1g.146018421C=CA1198820960HJVc.937G= (p.Asp313=)
c.259G= (p.Asp87=)
c.598G= (p.Asp200=)
1g.146018421C>GCA29823662HJVc.937G>C (p.Asp313His)
c.259G>C (p.Asp87His)
c.598G>C (p.Asp200His)
1g.146018421C>TCA1053923HJVc.937G>A (p.Asp313Asn)
c.259G>A (p.Asp87Asn)
c.598G>A (p.Asp200Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.146018422C>ACA342135390HJVc.936G>T (p.Gln312His)
c.258G>T (p.Gln86His)
c.597G>T (p.Gln199His)
1g.146018422C=CA1198820961HJVc.936G= (p.Gln312=)
c.258G= (p.Gln86=)
c.597G= (p.Gln199=)
1g.146018422C>GCA342135388HJVc.936G>C (p.Gln312His)
c.258G>C (p.Gln86His)
c.597G>C (p.Gln199His)
1g.146018422C>TCA420603424HJVc.936G>A (p.Gln312=)
c.258G>A (p.Gln86=)
c.597G>A (p.Gln199=)
 dbSNP
1g.146018423T>ACA342135392HJVc.935A>T (p.Gln312Leu)
c.257A>T (p.Gln86Leu)
c.596A>T (p.Gln199Leu)
1g.146018423T>CCA342135395HJVc.935A>G (p.Gln312Arg)
c.257A>G (p.Gln86Arg)
c.596A>G (p.Gln199Arg)
1g.146018423T>GCA342135400HJVc.935A>C (p.Gln312Pro)
c.257A>C (p.Gln86Pro)
c.596A>C (p.Gln199Pro)
1g.146018424G>ACA342135407HJVc.934C>T (p.Gln312Ter)
c.256C>T (p.Gln86Ter)
c.595C>T (p.Gln199Ter)
 ClinVar dbSNP gnomAD v4
1g.146018424G>CCA342135411HJVc.934C>G (p.Gln312Glu)
c.256C>G (p.Gln86Glu)
c.595C>G (p.Gln199Glu)
1g.146018424G=CA1198820962HJVc.934C= (p.Gln312=)
c.256C= (p.Gln86=)
c.595C= (p.Gln199=)
1g.146018424G>TCA342135421HJVc.934C>A (p.Gln312Lys)
c.256C>A (p.Gln86Lys)
c.595C>A (p.Gln199Lys)
1g.146018425T>ACA342135432HJVc.933A>T (p.Glu311Asp)
c.255A>T (p.Glu85Asp)
c.594A>T (p.Glu198Asp)
1g.146018425T>CCA420603428HJVc.933A>G (p.Glu311=)
c.255A>G (p.Glu85=)
c.594A>G (p.Glu198=)
 gnomAD v4
1g.146018425T>GCA342135423HJVc.933A>C (p.Glu311Asp)
c.255A>C (p.Glu85Asp)
c.594A>C (p.Glu198Asp)

Number of alleles fetched