Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.61378351_61378354delinsGCTCCA1255352274USP34c.1076+9_1076+12delinsGAGC (n.1076+9_1076+12delinsGAGC)
c.602+9_602+12delinsGAGC
2g.61378352C>ACA2659222680USP34c.1076+11G>T (n.1076+11G>T)
c.602+11G>T
gnomAD v4
2g.61378352C=CA1255352276USP34c.1076+11G= (n.1076+11G=)
c.602+11G=
2g.61378352C>TCA532842393USP34c.1076+11G>A (n.1076+11G>A)
c.602+11G>A
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.61378354_61378356delCA1255352275USP34c.1076+9_1076+11del (n.1076+9_1076+11del)
c.602+9_602+11del
dbSNP
2g.61378353T>CCA2659222681USP34c.1076+10A>G (n.1076+10A>G)
c.602+10A>G
gnomAD v4
2g.61378354C>ACA2659222682USP34c.1076+9G>T (n.1076+9G>T)
c.602+9G>T
gnomAD v4
2g.61378354C=CA1255352277USP34c.1076+9G= (n.1076+9G=)
c.602+9G=
2g.61378354C>TCA770955723USP34c.1076+9G>A (n.1076+9G>A)
c.602+9G>A
dbSNP gnomAD v3 gnomAD v4
2g.61378355C>ACA2659222684USP34c.1076+8G>T (n.1076+8G>T)
c.602+8G>T
gnomAD v4
2g.61378355C=CA1255352278USP34c.1076+8G= (n.1076+8G=)
c.602+8G=
2g.61378355C>TCA770955729USP34c.1076+8G>A (n.1076+8G>A)
c.602+8G>A
dbSNP gnomAD v3 gnomAD v4
2g.61378357_61378359delCA2659222683USP34c.1076+6_1076+8del (n.1076+6_1076+8del)
c.602+6_602+8del
gnomAD v4
2g.61378356T>CCA2659222685USP34c.1076+7A>G (n.1076+7A>G)
c.602+7A>G
gnomAD v4
2g.61378357delCA2659222686USP34c.1076+6del (n.1076+6del)
c.602+6del
gnomAD v4
2g.61378360T>CCA2659222687USP34c.1076+3A>G (n.1076+3A>G)
c.602+3A>G
gnomAD v4
2g.61378361A>CCA346974353USP34c.1076+2T>G (n.1076+2T>G)
c.602+2T>G
2g.61378361A>GCA346974355USP34c.1076+2T>C (n.1076+2T>C)
c.602+2T>C
2g.61378361A>TCA346974358USP34c.1076+2T>A (n.1076+2T>A)
c.602+2T>A
2g.61378362C>ACA346974365USP34c.1076+1G>T (n.1076+1G>T)
c.602+1G>T
2g.61378362C>GCA346974367USP34c.1076+1G>C (n.1076+1G>C)
c.602+1G>C
2g.61378362C>TCA346974370USP34c.1076+1G>A (n.1076+1G>A)
c.602+1G>A
gnomAD v4
2g.61378363G>ACA1677651USP34c.1076C>T (p.Thr359Met)
c.602C>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.61378363G>CCA346974374USP34c.1076C>G (p.Thr359Arg)
c.602C>G
2g.61378363G=CA1255352279USP34c.1076C= (p.Thr359=)
c.602C=
2g.61378363G>TCA346974375USP34c.1076C>A (p.Thr359Lys)
c.602C>A
gnomAD v4
2g.61378364T>ACA346974380USP34c.1075A>T (p.Thr359Ser)
c.601A>T
COSMIC
2g.61378364T>CCA346974382USP34c.1075A>G (p.Thr359Ala)
c.601A>G
gnomAD v4
2g.61378364T>GCA346974383USP34c.1075A>C (p.Thr359Pro)
c.601A>C
2g.61378365T>ACA346974386USP34c.1074A>T (p.Glu358Asp)
c.600A>T
dbSNP
2g.61378365T>CCA426205599USP34c.1074A>G (p.Glu358=)
c.600A>G
2g.61378365T>GCA346974389USP34c.1074A>C (p.Glu358Asp)
c.600A>C
2g.61378365T=CA1255352280USP34c.1074A= (p.Glu358=)
c.600A=
2g.61378366T>ACA346974396USP34c.1073A>T (p.Glu358Val)
c.599A>T
2g.61378366T>CCA346974399USP34c.1073A>G (p.Glu358Gly)
c.599A>G
2g.61378366T>GCA346974401USP34c.1073A>C (p.Glu358Ala)
c.599A>C
2g.61378367C>ACA346974404USP34c.1072G>T (p.Glu358Ter)
c.598G>T
2g.61378367C>GCA346974406USP34c.1072G>C (p.Glu358Gln)
c.598G>C
2g.61378367C>TCA346974408USP34c.1072G>A (p.Glu358Lys)
c.598G>A
2g.61378368T>ACA426205600USP34c.1071A>T (p.Thr357=)
c.597A>T
2g.61378368T>CCA426205602USP34c.1071A>G (p.Thr357=)
c.597A>G
2g.61378368T>GCA426205601USP34c.1071A>C (p.Thr357=)
c.597A>C
COSMIC
2g.61378369G>ACA346974416USP34c.1070C>T (p.Thr357Ile)
c.596C>T
gnomAD v4
2g.61378369G>CCA346974415USP34c.1070C>G (p.Thr357Arg)
c.596C>G
COSMIC
2g.61378369G>TCA346974411USP34c.1070C>A (p.Thr357Lys)
c.596C>A
gnomAD v4
2g.61378370T>ACA346974419USP34c.1069A>T (p.Thr357Ser)
c.595A>T
2g.61378370T>CCA346974422USP34c.1069A>G (p.Thr357Ala)
c.595A>G
2g.61378370T>GCA346974424USP34c.1069A>C (p.Thr357Pro)
c.595A>C
2g.61378371G>ACA48428641USP34c.1068C>T (p.Asp356=)
c.594C>T
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.61378371G>CCA346974427USP34c.1068C>G (p.Asp356Glu)
c.594C>G
2g.61378371G=CA1255352281USP34c.1068C= (p.Asp356=)
c.594C=
2g.61378371G>TCA346974429USP34c.1068C>A (p.Asp356Glu)
c.594C>A
2g.61378372T>ACA346974436USP34c.1067A>T (p.Asp356Val)
c.593A>T
2g.61378372T>CCA1677653USP34c.1067A>G (p.Asp356Gly)
c.593A>G
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.61378372T>GCA1677652USP34c.1067A>C (p.Asp356Ala)
c.593A>C
dbSNP ExAC gnomAD v2 gnomAD v4
2g.61378372T=CA1255352282USP34c.1067A= (p.Asp356=)
c.593A=
2g.61378373C>ACA346974444USP34c.1066G>T (p.Asp356Tyr)
c.592G>T
2g.61378373C>GCA346974445USP34c.1066G>C (p.Asp356His)
c.592G>C
COSMIC
2g.61378373C>TCA346974446USP34c.1066G>A (p.Asp356Asn)
c.592G>A
2g.61378374C>ACA1677655USP34c.1065G>T (p.Ser355=)
c.591G>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.61378374C=CA1255352283USP34c.1065G= (p.Ser355=)
c.591G=
2g.61378374C>GCA426205606USP34c.1065G>C (p.Ser355=)
c.591G>C
2g.61378374C>TCA1677654USP34c.1065G>A (p.Ser355=)
c.591G>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.61378375G>ACA346974451USP34c.1064C>T (p.Ser355Leu)
c.590C>T
ClinVar dbSNP gnomAD v3 gnomAD v4
2g.61378375G>CCA346974450USP34c.1064C>G (p.Ser355Trp)
c.590C>G
2g.61378375G=CA1255352284USP34c.1064C= (p.Ser355=)
c.590C=
2g.61378375G>TCA346974447USP34c.1064C>A (p.Ser355Ter)
c.590C>A
2g.61378376A>CCA346974454USP34c.1063T>G (p.Ser355Ala)
c.589T>G
2g.61378376A>GCA346974456USP34c.1063T>C (p.Ser355Pro)
c.589T>C
2g.61378376A>TCA346974458USP34c.1063T>A (p.Ser355Thr)
c.589T>A
2g.61378377T>ACA426205607USP34c.1062A>T (p.Val354=)
c.588A>T
2g.61378377T>CCA426205608USP34c.1062A>G (p.Val354=)
c.588A>G
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.61378377T>GCA426205609USP34c.1062A>C (p.Val354=)
c.588A>C
2g.61378377T=CA1255352285USP34c.1062A= (p.Val354=)
c.588A=
2g.61378378A>CCA346974462USP34c.1061T>G (p.Val354Gly)
c.587T>G
2g.61378378A>GCA346974464USP34c.1061T>C (p.Val354Ala)
c.587T>C
2g.61378378A>TCA346974467USP34c.1061T>A (p.Val354Glu)
c.587T>A
2g.61378379C>ACA346974469USP34c.1060G>T (p.Val354Leu)
c.586G>T
gnomAD v4
2g.61378379C>GCA346974470USP34c.1060G>C (p.Val354Leu)
c.586G>C
2g.61378379C>TCA346974471USP34c.1060G>A (p.Val354Ile)
c.586G>A
2g.61378380T>ACA346974473USP34c.1059A>T (p.Leu353Phe)
c.585A>T
2g.61378380T>CCA426205610USP34c.1059A>G (p.Leu353=)
c.585A>G
gnomAD v4
2g.61378380T>GCA346974475USP34c.1059A>C (p.Leu353Phe)
c.585A>C
2g.61378381A>CCA346974478USP34c.1058T>G (p.Leu353Ter)
c.584T>G
2g.61378381A>GCA346974480USP34c.1058T>C (p.Leu353Ser)
c.584T>C
2g.61378381A>TCA346974483USP34c.1058T>A (p.Leu353Ter)
c.584T>A
2g.61378382A=CA1255352286USP34c.1057T= (p.Leu353=)
c.583T=
2g.61378382A>CCA346974490USP34c.1057T>G (p.Leu353Val)
c.583T>G
2g.61378382A>GCA1677656USP34c.1057T>C (p.Leu353=)
c.583T>C
dbSNP ExAC gnomAD v2 gnomAD v4
2g.61378382A>TCA346974487USP34c.1057T>A (p.Leu353Ile)
c.583T>A
2g.61378383T>ACA426205611USP34c.1056A>T (p.Ser352=)
c.582A>T
2g.61378383T>CCA426205613USP34c.1056A>G (p.Ser352=)
c.582A>G
dbSNP gnomAD v4
2g.61378383T>GCA426205612USP34c.1056A>C (p.Ser352=)
c.582A>C
2g.61378383T=CA1255352287USP34c.1056A= (p.Ser352=)
c.582A=
2g.61378384G>ACA346974494USP34c.1055C>T (p.Ser352Leu)
c.581C>T
2g.61378384G>CCA346974496USP34c.1055C>G (p.Ser352Ter)
c.581C>G
2g.61378384G>TCA346974497USP34c.1055C>A (p.Ser352Ter)
c.581C>A
gnomAD v4
2g.61378385A>CCA346974500USP34c.1054T>G (p.Ser352Ala)
c.580T>G
2g.61378385A>GCA346974503USP34c.1054T>C (p.Ser352Pro)
c.580T>C
2g.61378385A>TCA346974504USP34c.1054T>A (p.Ser352Thr)
c.580T>A
2g.61378386T>ACA346974505USP34c.1053A>T (p.Glu351Asp)
c.579A>T
2g.61378386T>CCA48428672USP34c.1053A>G (p.Glu351=)
c.579A>G
dbSNP gnomAD v4
2g.61378386T>GCA346974509USP34c.1053A>C (p.Glu351Asp)
c.579A>C
2g.61378386T=CA1255352288USP34c.1053A= (p.Glu351=)
c.579A=
2g.61378387T>ACA346974516USP34c.1052A>T (p.Glu351Val)
c.578A>T
dbSNP gnomAD v3 gnomAD v4
2g.61378387T>CCA346974518USP34c.1052A>G (p.Glu351Gly)
c.578A>G
2g.61378387T>GCA346974527USP34c.1052A>C (p.Glu351Ala)
c.578A>C
2g.61378387T=CA1255352289USP34c.1052A= (p.Glu351=)
c.578A=
2g.61378388C>ACA346974534USP34c.1051G>T (p.Glu351Ter)
c.577G>T
2g.61378388C=CA1255352290USP34c.1051G= (p.Glu351=)
c.577G=
2g.61378388C>GCA346974532USP34c.1051G>C (p.Glu351Gln)
c.577G>C
dbSNP gnomAD v3 gnomAD v4
2g.61378388C>TCA346974530USP34c.1051G>A (p.Glu351Lys)
c.577G>A
dbSNP gnomAD v2 gnomAD v4
2g.61378389A>CCA346974538USP34c.1050T>G (p.Asn350Lys)
c.576T>G
2g.61378389A>GCA426205614USP34c.1050T>C (p.Asn350=)
c.576T>C
2g.61378389A>TCA346974544USP34c.1050T>A (p.Asn350Lys)
c.576T>A
2g.61378390T>ACA346974546USP34c.1049A>T (p.Asn350Ile)
c.575A>T
2g.61378390T>CCA346974549USP34c.1049A>G (p.Asn350Ser)
c.575A>G
dbSNP gnomAD v2 gnomAD v4
2g.61378390T>GCA346974554USP34c.1049A>C (p.Asn350Thr)
c.575A>C
2g.61378390T=CA1255352291USP34c.1049A= (p.Asn350=)
c.575A=
2g.61378391T>ACA346974556USP34c.1048A>T (p.Asn350Tyr)
c.574A>T
2g.61378391T>CCA346974557USP34c.1048A>G (p.Asn350Asp)
c.574A>G
2g.61378391T>GCA346974558USP34c.1048A>C (p.Asn350His)
c.574A>C
2g.61378392A>CCA346974560USP34c.1047T>G (p.Asn349Lys)
c.573T>G
2g.61378392A>GCA426205615USP34c.1047T>C (p.Asn349=)
c.573T>C
2g.61378392A>TCA346974562USP34c.1047T>A (p.Asn349Lys)
c.573T>A
2g.61378393T>ACA346974571USP34c.1046A>T (p.Asn349Ile)
c.572A>T
2g.61378393T>CCA1677657USP34c.1046A>G (p.Asn349Ser)
c.572A>G
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.61378393T>GCA346974578USP34c.1046A>C (p.Asn349Thr)
c.572A>C
2g.61378393T=CA1255352292USP34c.1046A= (p.Asn349=)
c.572A=
2g.61378394T>ACA346974583USP34c.1045A>T (p.Asn349Tyr)
c.571A>T
2g.61378394T>CCA346974586USP34c.1045A>G (p.Asn349Asp)
c.571A>G
2g.61378394T>GCA346974580USP34c.1045A>C (p.Asn349His)
c.571A>C
dbSNP gnomAD v4
2g.61378394T=CA1255352293USP34c.1045A= (p.Asn349=)
c.571A=
2g.61378395G>ACA426205616USP34c.1044C>T (p.Cys348=)
c.570C>T
2g.61378395G>CCA346974588USP34c.1044C>G (p.Cys348Trp)
c.570C>G
2g.61378395G>TCA346974587USP34c.1044C>A (p.Cys348Ter)
c.570C>A
2g.61378396C>ACA346974590USP34c.1043G>T (p.Cys348Phe)
c.569G>T
gnomAD v4
2g.61378396C=CA1255352294USP34c.1043G= (p.Cys348=)
c.569G=
2g.61378396C>GCA346974589USP34c.1043G>C (p.Cys348Ser)
c.569G>C
2g.61378396C>TCA1677658USP34c.1043G>A (p.Cys348Tyr)
c.569G>A
dbSNP ExAC gnomAD v2 gnomAD v4
2g.61378397A>CCA346974593USP34c.1042T>G (p.Cys348Gly)
c.568T>G
2g.61378397A>GCA346974595USP34c.1042T>C (p.Cys348Arg)
c.568T>C
2g.61378397A>TCA346974594USP34c.1042T>A (p.Cys348Ser)
c.568T>A
2g.61378398C>ACA426205617USP34c.1041G>T (p.Val347=)
c.567G>T
dbSNP
2g.61378398C=CA1255352295USP34c.1041G= (p.Val347=)
c.567G=
2g.61378398C>GCA426205618USP34c.1041G>C (p.Val347=)
c.567G>C
2g.61378398C>TCA426205619USP34c.1041G>A (p.Val347=)
c.567G>A
dbSNP gnomAD v4
2g.61378399A=CA1255352296USP34c.1040T= (p.Val347=)
c.566T=
2g.61378399A>CCA346974597USP34c.1040T>G (p.Val347Gly)
c.566T>G
dbSNP gnomAD v2 gnomAD v4
2g.61378399A>GCA346974600USP34c.1040T>C (p.Val347Ala)
c.566T>C
2g.61378399A>TCA346974598USP34c.1040T>A (p.Val347Glu)
c.566T>A
2g.61378400C>ACA346974601USP34c.1039G>T (p.Val347Leu)
c.565G>T
2g.61378400C=CA1255352297USP34c.1039G= (p.Val347=)
c.565G=
2g.61378400C>GCA346974606USP34c.1039G>C (p.Val347Leu)
c.565G>C
2g.61378400C>TCA346974604USP34c.1039G>A (p.Val347Met)
c.565G>A
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.61378401A>CCA346974607USP34c.1038T>G (p.Asp346Glu)
c.564T>G
2g.61378401A>GCA426205620USP34c.1038T>C (p.Asp346=)
c.564T>C
2g.61378401A>TCA346974608USP34c.1038T>A (p.Asp346Glu)
c.564T>A
2g.61378402T>ACA346974609USP34c.1037A>T (p.Asp346Val)
c.563A>T
2g.61378402T>CCA346974610USP34c.1037A>G (p.Asp346Gly)
c.563A>G
gnomAD v4
2g.61378402T>GCA346974611USP34c.1037A>C (p.Asp346Ala)
c.563A>C
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.61378402T=CA1255352298USP34c.1037A= (p.Asp346=)
c.563A=
2g.61378403C>ACA346974612USP34c.1036G>T (p.Asp346Tyr)
c.562G>T
2g.61378403C>GCA346974614USP34c.1036G>C (p.Asp346His)
c.562G>C
2g.61378403C>TCA346974615USP34c.1036G>A (p.Asp346Asn)
c.562G>A
2g.61378404A>CCA346974618USP34c.1035T>G (p.Asn345Lys)
c.561T>G
2g.61378404A>GCA426205621USP34c.1035T>C (p.Asn345=)
c.561T>C
2g.61378404A>TCA346974619USP34c.1035T>A (p.Asn345Lys)
c.561T>A
2g.61378405T>ACA346974624USP34c.1034A>T (p.Asn345Ile)
c.560A>T
2g.61378405T>CCA346974621USP34c.1034A>G (p.Asn345Ser)
c.560A>G
dbSNP gnomAD v2 gnomAD v4
2g.61378405T>GCA346974620USP34c.1034A>C (p.Asn345Thr)
c.560A>C
2g.61378405T=CA1255352299USP34c.1034A= (p.Asn345=)
c.560A=
2g.61378406T>ACA346974625USP34c.1033A>T (p.Asn345Tyr)
c.559A>T
2g.61378406T>CCA346974627USP34c.1033A>G (p.Asn345Asp)
c.559A>G
2g.61378406T>GCA346974630USP34c.1033A>C (p.Asn345His)
c.559A>C
2g.61378407G>ACA426205622USP34c.1032C>T (p.Phe344=)
c.558C>T
gnomAD v4
2g.61378407G>CCA346974631USP34c.1032C>G (p.Phe344Leu)
c.558C>G
2g.61378407G>TCA346974633USP34c.1032C>A (p.Phe344Leu)
c.558C>A
2g.61378408A=CA1255352300USP34c.1031T= (p.Phe344=)
c.557T=
2g.61378408A>CCA1677659USP34c.1031T>G (p.Phe344Cys)
c.557T>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.61378408A>GCA346974636USP34c.1031T>C (p.Phe344Ser)
c.557T>C
2g.61378408A>TCA346974637USP34c.1031T>A (p.Phe344Tyr)
c.557T>A
2g.61378409A=CA1255352301USP34c.1030T= (p.Phe344=)
c.556T=
2g.61378409A>CCA346974641USP34c.1030T>G (p.Phe344Val)
c.556T>G
dbSNP gnomAD v2 gnomAD v4
2g.61378409A>GCA346974642USP34c.1030T>C (p.Phe344Leu)
c.556T>C
2g.61378409A>TCA346974643USP34c.1030T>A (p.Phe344Ile)
c.556T>A
2g.61378410G>ACA426205623USP34c.1029C>T (p.Thr343=)
c.555C>T
dbSNP gnomAD v3 gnomAD v4
2g.61378410G>CCA426205624USP34c.1029C>G (p.Thr343=)
c.555C>G
2g.61378410G=CA1255352302USP34c.1029C= (p.Thr343=)
c.555C=
2g.61378410G>TCA426205625USP34c.1029C>A (p.Thr343=)
c.555C>A
gnomAD v4
2g.61378411G>ACA346974646USP34c.1028C>T (p.Thr343Ile)
c.554C>T
gnomAD v4
2g.61378411G>CCA346974648USP34c.1028C>G (p.Thr343Ser)
c.554C>G
2g.61378411G>TCA346974645USP34c.1028C>A (p.Thr343Asn)
c.554C>A
2g.61378412T>ACA346974650USP34c.1027A>T (p.Thr343Ser)
c.553A>T
2g.61378412T>CCA346974651USP34c.1027A>G (p.Thr343Ala)
c.553A>G
2g.61378412T>GCA346974652USP34c.1027A>C (p.Thr343Pro)
c.553A>C
2g.61378413A>CCA346974653USP34c.1026T>G (p.His342Gln)
c.552T>G
2g.61378413A>GCA426205626USP34c.1026T>C (p.His342=)
c.552T>C
2g.61378413A>TCA346974654USP34c.1026T>A (p.His342Gln)
c.552T>A
2g.61378414T>ACA346974655USP34c.1025A>T (p.His342Leu)
c.551A>T
2g.61378414T>CCA346974656USP34c.1025A>G (p.His342Arg)
c.551A>G
gnomAD v4
2g.61378414T>GCA346974657USP34c.1025A>C (p.His342Pro)
c.551A>C
2g.61378415G>ACA346974658USP34c.1024C>T (p.His342Tyr)
c.550C>T
dbSNP
2g.61378415G>CCA346974659USP34c.1024C>G (p.His342Asp)
c.550C>G
2g.61378415G=CA1255352303USP34c.1024C= (p.His342=)
c.550C=
2g.61378415G>TCA346974660USP34c.1024C>A (p.His342Asn)
c.550C>A
gnomAD v4
2g.61378416G>ACA426205627USP34c.1023C>T (p.Leu341=)
c.549C>T
2g.61378416G>CCA426205628USP34c.1023C>G (p.Leu341=)
c.549C>G
2g.61378416G>TCA426205629USP34c.1023C>A (p.Leu341=)
c.549C>A
2g.61378417A>CCA346974670USP34c.1022T>G (p.Leu341Arg)
c.548T>G
2g.61378417A>GCA346974672USP34c.1022T>C (p.Leu341Pro)
c.548T>C
2g.61378417A>TCA346974662USP34c.1022T>A (p.Leu341His)
c.548T>A
2g.61378418G>ACA346974679USP34c.1021C>T (p.Leu341Phe)
c.547C>T
dbSNP gnomAD v4
2g.61378418G>CCA346974681USP34c.1021C>G (p.Leu341Val)
c.547C>G
2g.61378418G=CA1255352304USP34c.1021C= (p.Leu341=)
c.547C=
2g.61378418G>TCA346974682USP34c.1021C>A (p.Leu341Ile)
c.547C>A
2g.61378419T>ACA346974685USP34c.1020A>T (p.Gln340His)
c.546A>T
2g.61378419T>CCA426205630USP34c.1020A>G (p.Gln340=)
c.546A>G
gnomAD v4
2g.61378419T>GCA346974686USP34c.1020A>C (p.Gln340His)
c.546A>C
2g.61378420T>ACA346974691USP34c.1019A>T (p.Gln340Leu)
c.545A>T
2g.61378420T>CCA346974688USP34c.1019A>G (p.Gln340Arg)
c.545A>G
gnomAD v4
2g.61378420T>GCA346974689USP34c.1019A>C (p.Gln340Pro)
c.545A>C
2g.61378421G>ACA346974693USP34c.1018C>T (p.Gln340Ter)
c.544C>T
2g.61378421G>CCA346974696USP34c.1018C>G (p.Gln340Glu)
c.544C>G
gnomAD v4
2g.61378421G>TCA346974697USP34c.1018C>A (p.Gln340Lys)
c.544C>A
gnomAD v4
2g.61378422A>CCA346974698USP34c.1017T>G (p.Asn339Lys)
c.543T>G
2g.61378422A>GCA426205631USP34c.1017T>C (p.Asn339=)
c.543T>C
gnomAD v4
2g.61378422A>TCA346974699USP34c.1017T>A (p.Asn339Lys)
c.543T>A
2g.61378423T>ACA346974703USP34c.1016A>T (p.Asn339Ile)
c.542A>T
2g.61378423T>CCA346974701USP34c.1016A>G (p.Asn339Ser)
c.542A>G
2g.61378423T>GCA346974700USP34c.1016A>C (p.Asn339Thr)
c.542A>C
2g.61378424T>ACA346974705USP34c.1015A>T (p.Asn339Tyr)
c.541A>T
2g.61378424T>CCA346974711USP34c.1015A>G (p.Asn339Asp)
c.541A>G
2g.61378424T>GCA346974708USP34c.1015A>C (p.Asn339His)
c.541A>C
2g.61378425C>ACA346974713USP34c.1015-1G>T (n.1015-1G>T)
c.541-1G>T
2g.61378425C>GCA346974718USP34c.1015-1G>C (n.1015-1G>C)
c.541-1G>C
2g.61378425C>TCA346974719USP34c.1015-1G>A (n.1015-1G>A)
c.541-1G>A
2g.61378426T>ACA346974720USP34c.1015-2A>T (n.1015-2A>T)
c.541-2A>T
2g.61378426T>CCA346974721USP34c.1015-2A>G (n.1015-2A>G)
c.541-2A>G
2g.61378426T>GCA346974723USP34c.1015-2A>C (n.1015-2A>C)
c.541-2A>C
2g.61378428T>ACA914409591USP34c.1015-4A>T (n.1015-4A>T)
c.541-4A>T
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.61378428T>CCA2659222688USP34c.1015-4A>G (n.1015-4A>G)
c.541-4A>G
gnomAD v4
2g.61378428T=CA1255352305USP34c.1015-4A= (n.1015-4A=)
c.541-4A=
2g.61378429G>ACA645532555USP34c.1015-5C>T (n.1015-5C>T)
c.541-5C>T
gnomAD v4 COSMIC
2g.61378430A>GCA2659222689USP34c.1015-6T>C (n.1015-6T>C)
c.541-6T>C
gnomAD v4
2g.61378433A=CA1255352306USP34c.1015-9T= (n.1015-9T=)
c.541-9T=
2g.61378433A>GCA1677660USP34c.1015-9T>C (n.1015-9T>C)
c.541-9T>C
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.61378434A=CA1255352307USP34c.1015-10T= (n.1015-10T=)
c.541-10T=
2g.61378434A>CCA1677661USP34c.1015-10T>G (n.1015-10T>G)
c.541-10T>G
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.61378435A=CA1255352308USP34c.1015-11T= (n.1015-11T=)
c.541-11T=
2g.61378435A>GCA48428700USP34c.1015-11T>C (n.1015-11T>C)
c.541-11T>C
dbSNP gnomAD v4
2g.61378436G>ACA532842411USP34c.1015-12C>T (n.1015-12C>T)
c.541-12C>T
dbSNP gnomAD v2
2g.61378436G=CA1255352309USP34c.1015-12C= (n.1015-12C=)
c.541-12C=
2g.61378436G>TCA2659222690USP34c.1015-12C>A (n.1015-12C>A)
c.541-12C>A
gnomAD v4
2g.61378437A>GCA2659222691USP34c.1015-13T>C (n.1015-13T>C)
c.541-13T>C
gnomAD v4
2g.61378438C=CA1255352310USP34c.1015-14G= (n.1015-14G=)
c.541-14G=
2g.61378438C>TCA1677662USP34c.1015-14G>A (n.1015-14G>A)
c.541-14G>A
dbSNP ExAC gnomAD v2 gnomAD v4
2g.61378439A>CCA2576980459USP34c.1015-15T>G (n.1015-15T>G)
c.541-15T>G
2g.61378441_61378443delCA426205633USP34c.1015-17_1015-15del (n.1015-17_1015-15del)
c.541-17_541-15del
2g.61378440A=CA1255352311USP34c.1015-16T= (n.1015-16T=)
c.541-16T=
2g.61378440A>GCA1677663USP34c.1015-16T>C (n.1015-16T>C)
c.541-16T>C
dbSNP ExAC gnomAD v2 gnomAD v4
2g.61378441G>ACA646497292USP34c.1015-17C>T (n.1015-17C>T)
c.541-17C>T
COSMIC COSMIC
2g.61378441G>CCA532842416USP34c.1015-17C>G (n.1015-17C>G)
c.541-17C>G
dbSNP gnomAD v2 gnomAD v4
2g.61378441G=CA1255352312USP34c.1015-17C= (n.1015-17C=)
c.541-17C=
2g.61378441G>TCA2659222692USP34c.1015-17C>A (n.1015-17C>A)
c.541-17C>A
gnomAD v4
2g.61378442A>GCA2659222693USP34c.1015-18T>C (n.1015-18T>C)
c.541-18T>C
gnomAD v4
2g.61378443A>GCA2659222695USP34c.1015-19T>C (n.1015-19T>C)
c.541-19T>C
gnomAD v4
2g.61378443A>TCA2659222694USP34c.1015-19T>A (n.1015-19T>A)
c.541-19T>A
gnomAD v4
2g.61378445T>CCA532842417USP34c.1015-21A>G (n.1015-21A>G)
c.541-21A>G
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.61378445T=CA1255352313USP34c.1015-21A= (n.1015-21A=)
c.541-21A=
2g.61378446T>CCA1677664USP34c.1015-22A>G (n.1015-22A>G)
c.541-22A>G
dbSNP ExAC gnomAD v2 gnomAD v4
2g.61378446T=CA1255352314USP34c.1015-22A= (n.1015-22A=)
c.541-22A=
2g.61378447A=CA1255352315USP34c.1015-23T= (n.1015-23T=)
c.541-23T=
2g.61378447A>CCA2659222696USP34c.1015-23T>G (n.1015-23T>G)
c.541-23T>G
gnomAD v4
2g.61378447A>GCA1677665USP34c.1015-23T>C (n.1015-23T>C)
c.541-23T>C
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.61378448A=CA1255352316USP34c.1015-24T= (n.1015-24T=)
c.541-24T=
2g.61378448A>CCA1677666USP34c.1015-24T>G (n.1015-24T>G)
c.541-24T>G
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.61378448A>GCA2659222697USP34c.1015-24T>C (n.1015-24T>C)
c.541-24T>C
gnomAD v4
2g.61378448_61378449delinsAGCA1255352317USP34c.1015-25_1015-24delinsCT (n.1015-25_1015-24delinsCT)
c.541-25_541-24delinsCT
2g.61378449G>ACA2659222698USP34c.1015-25C>T (n.1015-25C>T)
c.541-25C>T
gnomAD v4
2g.61378449G>CCA2659222699USP34c.1015-25C>G (n.1015-25C>G)
c.541-25C>G
gnomAD v4
2g.61378449G>TCA2659222700USP34c.1015-25C>A (n.1015-25C>A)
c.541-25C>A
gnomAD v4
2g.61378451delCA1677667USP34c.1015-25del (n.1015-25del)
c.541-25del
dbSNP ExAC gnomAD v2 gnomAD v4
2g.61378450G>ACA1677669USP34c.1015-26C>T (n.1015-26C>T)
c.541-26C>T
dbSNP ExAC gnomAD v2 gnomAD v4
2g.61378450G>CCA1677668USP34c.1015-26C>G (n.1015-26C>G)
c.541-26C>G
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.61378450G=CA1255352318USP34c.1015-26C= (n.1015-26C=)
c.541-26C=
2g.61378450G>TCA1677670USP34c.1015-26C>A (n.1015-26C>A)
c.541-26C>A
dbSNP ExAC gnomAD v2 gnomAD v4
2g.61378451G=CA1255352320USP34c.1015-27C= (n.1015-27C=)
c.541-27C=
2g.61378451G>TCA1255352319USP34c.1015-27C>A (n.1015-27C>A)
c.541-27C>A
dbSNP gnomAD v4
2g.61378451_61378454delinsGTTTCA1255352321USP34c.1015-30_1015-27delinsAAAC (n.1015-30_1015-27delinsAAAC)
c.541-30_541-27delinsAAAC
2g.61378452T>ACA2659222702USP34c.1015-28A>T (n.1015-28A>T)
c.541-28A>T
gnomAD v4
2g.61378452T>CCA532842432USP34c.1015-28A>G (n.1015-28A>G)
c.541-28A>G
dbSNP gnomAD v2 gnomAD v4
2g.61378452T=CA1255352322USP34c.1015-28A= (n.1015-28A=)
c.541-28A=
2g.61378456delCA1677672USP34c.1015-28del (n.1015-28del)
c.541-28del
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.61378454_61378456delCA1677671USP34c.1015-30_1015-28del (n.1015-30_1015-28del)
c.541-30_541-28del
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.61378453_61378456delCA2659222701USP34c.1015-31_1015-28del (n.1015-31_1015-28del)
c.541-31_541-28del
gnomAD v4

Number of alleles fetched