Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.21575771A>C | CA338881052 | ALPL | c.1036A>C (p.Lys346Gln) n.305A>C c.111A>C c.805A>C (p.Lys269Gln) c.871A>C (p.Lys291Gln) c.880A>C (p.Lys294Gln) | |
1 | g.21575771A>G | CA338881053 | ALPL | c.1036A>G (p.Lys346Glu) n.305A>G c.111A>G c.805A>G (p.Lys269Glu) c.871A>G (p.Lys291Glu) c.880A>G (p.Lys294Glu) | |
1 | g.21575771A>T | CA338881054 | ALPL | c.1036A>T (p.Lys346Ter) n.305A>T c.111A>T c.805A>T (p.Lys269Ter) c.871A>T (p.Lys291Ter) c.880A>T (p.Lys294Ter) | |
1 | g.21575772A= | CA1158019292 | ALPL | c.1037A= (p.Lys346=) n.306A= c.112A= c.806A= (p.Lys269=) c.872A= (p.Lys291=) c.881A= (p.Lys294=) | |
1 | g.21575772A>C | CA338881055 | ALPL | c.1037A>C (p.Lys346Thr) n.306A>C c.112A>C c.806A>C (p.Lys269Thr) c.872A>C (p.Lys291Thr) c.881A>C (p.Lys294Thr) | |
1 | g.21575772A>G | CA338881056 | ALPL | c.1037A>G (p.Lys346Arg) n.306A>G c.112A>G c.806A>G (p.Lys269Arg) c.872A>G (p.Lys291Arg) c.881A>G (p.Lys294Arg) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.21575772A>T | CA338881057 | ALPL | c.1037A>T (p.Lys346Met) n.306A>T c.112A>T c.806A>T (p.Lys269Met) c.872A>T (p.Lys291Met) c.881A>T (p.Lys294Met) | |
1 | g.21575773G>A | CA416532930 | ALPL | c.1038G>A (p.Lys346=) n.307G>A c.113G>A c.807G>A (p.Lys269=) c.873G>A (p.Lys291=) c.882G>A (p.Lys294=) | |
1 | g.21575773G>C | CA338881058 | ALPL | c.1038G>C (p.Lys346Asn) n.307G>C c.113G>C c.807G>C (p.Lys269Asn) c.873G>C (p.Lys291Asn) c.882G>C (p.Lys294Asn) | |
1 | g.21575773G>T | CA338881059 | ALPL | c.1038G>T (p.Lys346Asn) n.307G>T c.113G>T c.807G>T (p.Lys269Asn) c.873G>T (p.Lys291Asn) c.882G>T (p.Lys294Asn) | |
1 | g.21575774C>A | CA338881061 | ALPL | c.1039C>A (p.Gln347Lys) n.308C>A c.114C>A c.808C>A (p.Gln270Lys) c.874C>A (p.Gln292Lys) c.883C>A (p.Gln295Lys) | |
1 | g.21575774C= | CA1158019294 | ALPL | c.1039C= (p.Gln347=) n.308C= c.114C= c.808C= (p.Gln270=) c.874C= (p.Gln292=) c.883C= (p.Gln295=) | |
1 | g.21575774C>G | CA338881062 | ALPL | c.1039C>G (p.Gln347Glu) n.308C>G c.114C>G c.808C>G (p.Gln270Glu) c.874C>G (p.Gln292Glu) c.883C>G (p.Gln295Glu) | |
1 | g.21575774C>T | CA338881060 | ALPL | c.1039C>T (p.Gln347Ter) n.308C>T c.114C>T c.808C>T (p.Gln270Ter) c.874C>T (p.Gln292Ter) c.883C>T (p.Gln295Ter) | ClinVar dbSNP COSMIC |
1 | g.21575774_21575786delinsCAGGCCCTGCATG | CA1158019293 | ALPL | c.1039_1051delinsCAGGCCCTGCATG (p.Gln347=) n.308_320delinsCAGGCCCTGCATG c.114_126delinsCAGGCCCTGCATG c.808_820delinsCAGGCCCTGCATG (p.Gln270=) c.874_886delinsCAGGCCCTGCATG (p.Gln292=) c.883_895delinsCAGGCCCTGCATG (p.Gln295=) | |
1 | g.21575775A>C | CA338881064 | ALPL | c.1040A>C (p.Gln347Pro) n.309A>C c.115A>C c.809A>C (p.Gln270Pro) c.875A>C (p.Gln292Pro) c.884A>C (p.Gln295Pro) | |
1 | g.21575775A>G | CA338881065 | ALPL | c.1040A>G (p.Gln347Arg) n.309A>G c.115A>G c.809A>G (p.Gln270Arg) c.875A>G (p.Gln292Arg) c.884A>G (p.Gln295Arg) | |
1 | g.21575775A>T | CA338881066 | ALPL | c.1040A>T (p.Gln347Leu) n.309A>T c.115A>T c.809A>T (p.Gln270Leu) c.875A>T (p.Gln292Leu) c.884A>T (p.Gln295Leu) | gnomAD v4 |
1 | g.21575779_21575790del | CA666722 | ALPL | c.1044_1055del (p.Leu349_Ala352del) n.313_324del c.119_130del c.813_824del (p.Leu272_Ala275del) c.879_890del (p.Leu294_Ala297del) c.888_899del (p.Leu297_Ala300del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.21575776G>A | CA416532945 | ALPL | c.1041G>A (p.Gln347=) n.310G>A c.116G>A c.810G>A (p.Gln270=) c.876G>A (p.Gln292=) c.885G>A (p.Gln295=) | |
1 | g.21575776G>C | CA338881069 | ALPL | c.1041G>C (p.Gln347His) n.310G>C c.116G>C c.810G>C (p.Gln270His) c.876G>C (p.Gln292His) c.885G>C (p.Gln295His) | |
1 | g.21575776G>T | CA338881070 | ALPL | c.1041G>T (p.Gln347His) n.310G>T c.116G>T c.810G>T (p.Gln270His) c.876G>T (p.Gln292His) c.885G>T (p.Gln295His) | |
1 | g.21575777G>A | CA338881075 | ALPL | c.1042G>A (p.Ala348Thr) n.311G>A c.117G>A c.811G>A (p.Ala271Thr) c.877G>A (p.Ala293Thr) c.886G>A (p.Ala296Thr) | ClinVar dbSNP |
1 | g.21575777G>C | CA338881072 | ALPL | c.1042G>C (p.Ala348Pro) n.311G>C c.117G>C c.811G>C (p.Ala271Pro) c.877G>C (p.Ala293Pro) c.886G>C (p.Ala296Pro) | |
1 | g.21575777G= | CA1158019295 | ALPL | c.1042G= (p.Ala348=) n.311G= c.117G= c.811G= (p.Ala271=) c.877G= (p.Ala293=) c.886G= (p.Ala296=) | |
1 | g.21575777G>T | CA338881073 | ALPL | c.1042G>T (p.Ala348Ser) n.311G>T c.117G>T c.811G>T (p.Ala271Ser) c.877G>T (p.Ala293Ser) c.886G>T (p.Ala296Ser) | |
1 | g.21575778C>A | CA338881077 | ALPL | c.1043C>A (p.Ala348Asp) n.312C>A c.118C>A c.812C>A (p.Ala271Asp) c.878C>A (p.Ala293Asp) c.887C>A (p.Ala296Asp) | |
1 | g.21575778C>G | CA338881078 | ALPL | c.1043C>G (p.Ala348Gly) n.312C>G c.118C>G c.812C>G (p.Ala271Gly) c.878C>G (p.Ala293Gly) c.887C>G (p.Ala296Gly) | |
1 | g.21575778C>T | CA338881079 | ALPL | c.1043C>T (p.Ala348Val) n.312C>T c.118C>T c.812C>T (p.Ala271Val) c.878C>T (p.Ala293Val) c.887C>T (p.Ala296Val) | |
1 | g.21575779C>A | CA416532957 | ALPL | c.1044C>A (p.Ala348=) n.313C>A c.119C>A c.813C>A (p.Ala271=) c.879C>A (p.Ala293=) c.888C>A (p.Ala296=) | COSMIC |
1 | g.21575779C>G | CA416532959 | ALPL | c.1044C>G (p.Ala348=) n.313C>G c.119C>G c.813C>G (p.Ala271=) c.879C>G (p.Ala293=) c.888C>G (p.Ala296=) | |
1 | g.21575779C>T | CA416532955 | ALPL | c.1044C>T (p.Ala348=) n.313C>T c.119C>T c.813C>T (p.Ala271=) c.879C>T (p.Ala293=) c.888C>T (p.Ala296=) | |
1 | g.21575780C>A | CA338881081 | ALPL | c.1045C>A (p.Leu349Met) n.314C>A c.120C>A c.814C>A (p.Leu272Met) c.880C>A (p.Leu294Met) c.889C>A (p.Leu297Met) | |
1 | g.21575780C= | CA1158019296 | ALPL | c.1045C= (p.Leu349=) n.314C= c.120C= c.814C= (p.Leu272=) c.880C= (p.Leu294=) c.889C= (p.Leu297=) | |
1 | g.21575780C>G | CA338881082 | ALPL | c.1045C>G (p.Leu349Val) n.314C>G c.120C>G c.814C>G (p.Leu272Val) c.880C>G (p.Leu294Val) c.889C>G (p.Leu297Val) | |
1 | g.21575780C>T | CA416532964 | ALPL | c.1045C>T (p.Leu349=) n.314C>T c.120C>T c.814C>T (p.Leu272=) c.880C>T (p.Leu294=) c.889C>T (p.Leu297=) | ClinVar dbSNP |
1 | g.21575781T>A | CA338881087 | ALPL | c.1046T>A (p.Leu349Gln) n.315T>A c.121T>A c.815T>A (p.Leu272Gln) c.881T>A (p.Leu294Gln) c.890T>A (p.Leu297Gln) | |
1 | g.21575781T>C | CA338881084 | ALPL | c.1046T>C (p.Leu349Pro) n.315T>C c.121T>C c.815T>C (p.Leu272Pro) c.881T>C (p.Leu294Pro) c.890T>C (p.Leu297Pro) | |
1 | g.21575781T>G | CA338881086 | ALPL | c.1046T>G (p.Leu349Arg) n.315T>G c.121T>G c.815T>G (p.Leu272Arg) c.881T>G (p.Leu294Arg) c.890T>G (p.Leu297Arg) | |
1 | g.21575782G>A | CA416532971 | ALPL | c.1047G>A (p.Leu349=) n.316G>A c.122G>A c.816G>A (p.Leu272=) c.882G>A (p.Leu294=) c.891G>A (p.Leu297=) | |
1 | g.21575782G>C | CA416532970 | ALPL | c.1047G>C (p.Leu349=) n.316G>C c.122G>C c.816G>C (p.Leu272=) c.882G>C (p.Leu294=) c.891G>C (p.Leu297=) | |
1 | g.21575782G= | CA1158019297 | ALPL | c.1047G= (p.Leu349=) n.316G= c.122G= c.816G= (p.Leu272=) c.882G= (p.Leu294=) c.891G= (p.Leu297=) | |
1 | g.21575782G>T | CA666723 | ALPL | c.1047G>T (p.Leu349=) n.316G>T c.122G>T c.816G>T (p.Leu272=) c.882G>T (p.Leu294=) c.891G>T (p.Leu297=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.21575783C>A | CA338881090 | ALPL | c.1048C>A (p.His350Asn) n.317C>A c.123C>A c.817C>A (p.His273Asn) c.883C>A (p.His295Asn) c.892C>A (p.His298Asn) | |
1 | g.21575783C>G | CA338881092 | ALPL | c.1048C>G (p.His350Asp) n.317C>G c.123C>G c.817C>G (p.His273Asp) c.883C>G (p.His295Asp) c.892C>G (p.His298Asp) | |
1 | g.21575783C>T | CA338881093 | ALPL | c.1048C>T (p.His350Tyr) n.317C>T c.123C>T c.817C>T (p.His273Tyr) c.883C>T (p.His295Tyr) c.892C>T (p.His298Tyr) | gnomAD v4 |
1 | g.21575784A>C | CA338881096 | ALPL | c.1049A>C (p.His350Pro) n.318A>C c.124A>C c.818A>C (p.His273Pro) c.884A>C (p.His295Pro) c.893A>C (p.His298Pro) | |
1 | g.21575784A>G | CA338881098 | ALPL | c.1049A>G (p.His350Arg) n.318A>G c.124A>G c.818A>G (p.His273Arg) c.884A>G (p.His295Arg) c.893A>G (p.His298Arg) | gnomAD v4 |
1 | g.21575784A>T | CA338881099 | ALPL | c.1049A>T (p.His350Leu) n.318A>T c.124A>T c.818A>T (p.His273Leu) c.884A>T (p.His295Leu) c.893A>T (p.His298Leu) | |
1 | g.21575785T>A | CA338881101 | ALPL | c.1050T>A (p.His350Gln) n.319T>A c.125T>A c.819T>A (p.His273Gln) c.885T>A (p.His295Gln) c.894T>A (p.His298Gln) | |
1 | g.21575785T>C | CA416532983 | ALPL | c.1050T>C (p.His350=) n.319T>C c.125T>C c.819T>C (p.His273=) c.885T>C (p.His295=) c.894T>C (p.His298=) | |
1 | g.21575785T>G | CA338881103 | ALPL | c.1050T>G (p.His350Gln) n.319T>G c.125T>G c.819T>G (p.His273Gln) c.885T>G (p.His295Gln) c.894T>G (p.His298Gln) | |
1 | g.21575786G>A | CA338881105 | ALPL | c.1051G>A (p.Glu351Lys) n.320G>A c.126G>A c.820G>A (p.Glu274Lys) c.886G>A (p.Glu296Lys) c.895G>A (p.Glu299Lys) | gnomAD v4 |
1 | g.21575786G>C | CA338881106 | ALPL | c.1051G>C (p.Glu351Gln) n.320G>C c.126G>C c.820G>C (p.Glu274Gln) c.886G>C (p.Glu296Gln) c.895G>C (p.Glu299Gln) | |
1 | g.21575786G>T | CA338881108 | ALPL | c.1051G>T (p.Glu351Ter) n.320G>T c.126G>T c.820G>T (p.Glu274Ter) c.886G>T (p.Glu296Ter) c.895G>T (p.Glu299Ter) | ClinVar |
1 | g.21575787A>C | CA338881109 | ALPL | c.1052A>C (p.Glu351Ala) n.321A>C c.127A>C c.821A>C (p.Glu274Ala) c.887A>C (p.Glu296Ala) c.896A>C (p.Glu299Ala) | |
1 | g.21575787A>G | CA338881112 | ALPL | c.1052A>G (p.Glu351Gly) n.321A>G c.127A>G c.821A>G (p.Glu274Gly) c.887A>G (p.Glu296Gly) c.896A>G (p.Glu299Gly) | |
1 | g.21575787A>T | CA338881110 | ALPL | c.1052A>T (p.Glu351Val) n.321A>T c.127A>T c.821A>T (p.Glu274Val) c.887A>T (p.Glu296Val) c.896A>T (p.Glu299Val) | |
1 | g.21575788G>A | CA416532993 | ALPL | c.1053G>A (p.Glu351=) n.322G>A c.128G>A c.822G>A (p.Glu274=) c.888G>A (p.Glu296=) c.897G>A (p.Glu299=) | gnomAD v4 |
1 | g.21575788G>C | CA338881114 | ALPL | c.1053G>C (p.Glu351Asp) n.322G>C c.128G>C c.822G>C (p.Glu274Asp) c.888G>C (p.Glu296Asp) c.897G>C (p.Glu299Asp) | ClinVar gnomAD v4 |
1 | g.21575788G>T | CA338881116 | ALPL | c.1053G>T (p.Glu351Asp) n.322G>T c.128G>T c.822G>T (p.Glu274Asp) c.888G>T (p.Glu296Asp) c.897G>T (p.Glu299Asp) | |
1 | g.21575789G>A | CA338881117 | ALPL | c.1054G>A (p.Ala352Thr) n.323G>A c.129G>A c.823G>A (p.Ala275Thr) c.889G>A (p.Ala297Thr) c.898G>A (p.Ala300Thr) | |
1 | g.21575789G>C | CA338881119 | ALPL | c.1054G>C (p.Ala352Pro) n.323G>C c.129G>C c.823G>C (p.Ala275Pro) c.889G>C (p.Ala297Pro) c.898G>C (p.Ala300Pro) | |
1 | g.21575789G>T | CA338881120 | ALPL | c.1054G>T (p.Ala352Ser) n.323G>T c.129G>T c.823G>T (p.Ala275Ser) c.889G>T (p.Ala297Ser) c.898G>T (p.Ala300Ser) | |
1 | g.21575790C>A | CA338881122 | ALPL | c.1055C>A (p.Ala352Glu) n.324C>A c.130C>A c.824C>A (p.Ala275Glu) c.890C>A (p.Ala297Glu) c.899C>A (p.Ala300Glu) | |
1 | g.21575790C= | CA1158019298 | ALPL | c.1055C= (p.Ala352=) n.324C= c.130C= c.824C= (p.Ala275=) c.890C= (p.Ala297=) c.899C= (p.Ala300=) | |
1 | g.21575790C>G | CA338881124 | ALPL | c.1055C>G (p.Ala352Gly) n.324C>G c.130C>G c.824C>G (p.Ala275Gly) c.890C>G (p.Ala297Gly) c.899C>G (p.Ala300Gly) | |
1 | g.21575790C>T | CA338881126 | ALPL | c.1055C>T (p.Ala352Val) n.324C>T c.130C>T c.824C>T (p.Ala275Val) c.890C>T (p.Ala297Val) c.899C>T (p.Ala300Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.21575791G>A | CA666724 | ALPL | c.1056G>A (p.Ala352=) n.325G>A c.131G>A c.825G>A (p.Ala275=) c.891G>A (p.Ala297=) c.900G>A (p.Ala300=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.21575791G>C | CA416533007 | ALPL | c.1056G>C (p.Ala352=) n.325G>C c.131G>C c.825G>C (p.Ala275=) c.891G>C (p.Ala297=) c.900G>C (p.Ala300=) | |
1 | g.21575791G= | CA1158019299 | ALPL | c.1056G= (p.Ala352=) n.325G= c.131G= c.825G= (p.Ala275=) c.891G= (p.Ala297=) c.900G= (p.Ala300=) | |
1 | g.21575791G>T | CA666725 | ALPL | c.1056G>T (p.Ala352=) n.325G>T c.131G>T c.825G>T (p.Ala275=) c.891G>T (p.Ala297=) c.900G>T (p.Ala300=) | ClinVar dbSNP ExAC gnomAD v2 |
1 | g.21575792G>A | CA338881129 | ALPL | c.1057G>A (p.Val353Met) n.326G>A c.132G>A c.826G>A (p.Val276Met) c.892G>A (p.Val298Met) c.901G>A (p.Val301Met) | |
1 | g.21575792G>C | CA338881131 | ALPL | c.1057G>C (p.Val353Leu) n.326G>C c.132G>C c.826G>C (p.Val276Leu) c.892G>C (p.Val298Leu) c.901G>C (p.Val301Leu) | |
1 | g.21575792G>T | CA338881132 | ALPL | c.1057G>T (p.Val353Leu) n.326G>T c.132G>T c.826G>T (p.Val276Leu) c.892G>T (p.Val298Leu) c.901G>T (p.Val301Leu) | |
1 | g.21575793T>A | CA338881133 | ALPL | c.1058T>A (p.Val353Glu) n.327T>A c.133T>A c.827T>A (p.Val276Glu) c.893T>A (p.Val298Glu) c.902T>A (p.Val301Glu) | |
1 | g.21575793T>C | CA338881137 | ALPL | c.1058T>C (p.Val353Ala) n.327T>C c.133T>C c.827T>C (p.Val276Ala) c.893T>C (p.Val298Ala) c.902T>C (p.Val301Ala) | |
1 | g.21575793T>G | CA338881135 | ALPL | c.1058T>G (p.Val353Gly) n.327T>G c.133T>G c.827T>G (p.Val276Gly) c.893T>G (p.Val298Gly) c.902T>G (p.Val301Gly) | |
1 | g.21575794G>A | CA416533018 | ALPL | c.1059G>A (p.Val353=) n.328G>A c.134G>A c.828G>A (p.Val276=) c.894G>A (p.Val298=) c.903G>A (p.Val301=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.21575794G>C | CA416533019 | ALPL | c.1059G>C (p.Val353=) n.328G>C c.134G>C c.828G>C (p.Val276=) c.894G>C (p.Val298=) c.903G>C (p.Val301=) | |
1 | g.21575794G= | CA1158019300 | ALPL | c.1059G= (p.Val353=) n.328G= c.134G= c.828G= (p.Val276=) c.894G= (p.Val298=) c.903G= (p.Val301=) | |
1 | g.21575794G>T | CA416533021 | ALPL | c.1059G>T (p.Val353=) n.328G>T c.134G>T c.828G>T (p.Val276=) c.894G>T (p.Val298=) c.903G>T (p.Val301=) | |
1 | g.21575795G>A | CA338881138 | ALPL | c.1060G>A (p.Glu354Lys) n.329G>A c.135G>A c.829G>A (p.Glu277Lys) c.895G>A (p.Glu299Lys) c.904G>A (p.Glu302Lys) | COSMIC |
1 | g.21575795G>C | CA338881140 | ALPL | c.1060G>C (p.Glu354Gln) n.329G>C c.135G>C c.829G>C (p.Glu277Gln) c.895G>C (p.Glu299Gln) c.904G>C (p.Glu302Gln) | |
1 | g.21575795G>T | CA338881142 | ALPL | c.1060G>T (p.Glu354Ter) n.329G>T c.135G>T c.829G>T (p.Glu277Ter) c.895G>T (p.Glu299Ter) c.904G>T (p.Glu302Ter) | |
1 | g.21575796A>C | CA338881144 | ALPL | c.1061A>C (p.Glu354Ala) n.330A>C c.136A>C c.830A>C (p.Glu277Ala) c.896A>C (p.Glu299Ala) c.905A>C (p.Glu302Ala) | |
1 | g.21575796A>G | CA338881145 | ALPL | c.1061A>G (p.Glu354Gly) n.330A>G c.136A>G c.830A>G (p.Glu277Gly) c.896A>G (p.Glu299Gly) c.905A>G (p.Glu302Gly) | |
1 | g.21575796A>T | CA338881146 | ALPL | c.1061A>T (p.Glu354Val) n.330A>T c.136A>T c.830A>T (p.Glu277Val) c.896A>T (p.Glu299Val) c.905A>T (p.Glu302Val) | |
1 | g.21575797G>A | CA416533030 | ALPL | c.1062G>A (p.Glu354=) n.331G>A c.137G>A c.831G>A (p.Glu277=) c.897G>A (p.Glu299=) c.906G>A (p.Glu302=) | ClinVar |
1 | g.21575797G>C | CA338881148 | ALPL | c.1062G>C (p.Glu354Asp) n.331G>C c.137G>C c.831G>C (p.Glu277Asp) c.897G>C (p.Glu299Asp) c.906G>C (p.Glu302Asp) | ClinVar dbSNP gnomAD v4 |
1 | g.21575797G= | CA1158019301 | ALPL | c.1062G= (p.Glu354=) n.331G= c.137G= c.831G= (p.Glu277=) c.897G= (p.Glu299=) c.906G= (p.Glu302=) | |
1 | g.21575797G>T | CA338881150 | ALPL | c.1062G>T (p.Glu354Asp) n.331G>T c.137G>T c.831G>T (p.Glu277Asp) c.897G>T (p.Glu299Asp) c.906G>T (p.Glu302Asp) | |
1 | g.21575798A>C | CA338881152 | ALPL | c.1063A>C (p.Met355Leu) n.332A>C c.138A>C c.832A>C (p.Met278Leu) c.898A>C (p.Met300Leu) c.907A>C (p.Met303Leu) | |
1 | g.21575798A>G | CA338881153 | ALPL | c.1063A>G (p.Met355Val) n.332A>G c.138A>G c.832A>G (p.Met278Val) c.898A>G (p.Met300Val) c.907A>G (p.Met303Val) | |
1 | g.21575798A>T | CA338881154 | ALPL | c.1063A>T (p.Met355Leu) n.332A>T c.138A>T c.832A>T (p.Met278Leu) c.898A>T (p.Met300Leu) c.907A>T (p.Met303Leu) | |
1 | g.21575799T>A | CA338881156 | ALPL | c.1064T>A (p.Met355Lys) n.333T>A c.139T>A c.833T>A (p.Met278Lys) c.899T>A (p.Met300Lys) c.908T>A (p.Met303Lys) | |
1 | g.21575799T>C | CA338881157 | ALPL | c.1064T>C (p.Met355Thr) n.333T>C c.139T>C c.833T>C (p.Met278Thr) c.899T>C (p.Met300Thr) c.908T>C (p.Met303Thr) | |
1 | g.21575799T>G | CA338881155 | ALPL | c.1064T>G (p.Met355Arg) n.333T>G c.139T>G c.833T>G (p.Met278Arg) c.899T>G (p.Met300Arg) c.908T>G (p.Met303Arg) | |
1 | g.21575800G>A | CA338881159 | ALPL | c.1065G>A (p.Met355Ile) n.334G>A c.140G>A c.834G>A (p.Met278Ile) c.900G>A (p.Met300Ile) c.909G>A (p.Met303Ile) | ClinVar gnomAD v4 |
1 | g.21575800G>C | CA338881158 | ALPL | c.1065G>C (p.Met355Ile) n.334G>C c.140G>C c.834G>C (p.Met278Ile) c.900G>C (p.Met300Ile) c.909G>C (p.Met303Ile) | |
1 | g.21575800G>T | CA338881160 | ALPL | c.1065G>T (p.Met355Ile) n.334G>T c.140G>T c.834G>T (p.Met278Ile) c.900G>T (p.Met300Ile) c.909G>T (p.Met303Ile) | |
1 | g.21575801G>A | CA338881161 | ALPL | c.1066G>A (p.Asp356Asn) n.335G>A c.141G>A c.835G>A (p.Asp279Asn) c.901G>A (p.Asp301Asn) c.910G>A (p.Asp304Asn) | |
1 | g.21575801G>C | CA338881163 | ALPL | c.1066G>C (p.Asp356His) n.335G>C c.141G>C c.835G>C (p.Asp279His) c.901G>C (p.Asp301His) c.910G>C (p.Asp304His) | |
1 | g.21575801G>T | CA338881162 | ALPL | c.1066G>T (p.Asp356Tyr) n.335G>T c.141G>T c.835G>T (p.Asp279Tyr) c.901G>T (p.Asp301Tyr) c.910G>T (p.Asp304Tyr) | |
1 | g.21575802A>C | CA338881164 | ALPL | c.1067A>C (p.Asp356Ala) n.336A>C c.142A>C c.836A>C (p.Asp279Ala) c.902A>C (p.Asp301Ala) c.911A>C (p.Asp304Ala) | |
1 | g.21575802A>G | CA338881166 | ALPL | c.1067A>G (p.Asp356Gly) n.336A>G c.142A>G c.836A>G (p.Asp279Gly) c.902A>G (p.Asp301Gly) c.911A>G (p.Asp304Gly) | |
1 | g.21575802A>T | CA338881165 | ALPL | c.1067A>T (p.Asp356Val) n.336A>T c.142A>T c.836A>T (p.Asp279Val) c.902A>T (p.Asp301Val) c.911A>T (p.Asp304Val) | |
1 | g.21575803C>A | CA338881167 | ALPL | c.1068C>A (p.Asp356Glu) n.337C>A c.143C>A c.837C>A (p.Asp279Glu) c.903C>A (p.Asp301Glu) c.912C>A (p.Asp304Glu) | ClinVar |
1 | g.21575803C= | CA1158019302 | ALPL | c.1068C= (p.Asp356=) n.337C= c.143C= c.837C= (p.Asp279=) c.903C= (p.Asp301=) c.912C= (p.Asp304=) | |
1 | g.21575803C>G | CA666726 | ALPL | c.1068C>G (p.Asp356Glu) n.337C>G c.143C>G c.837C>G (p.Asp279Glu) c.903C>G (p.Asp301Glu) c.912C>G (p.Asp304Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.21575803C>T | CA416533058 | ALPL | c.1068C>T (p.Asp356=) n.337C>T c.143C>T c.837C>T (p.Asp279=) c.903C>T (p.Asp301=) c.912C>T (p.Asp304=) | ClinVar COSMIC |
1 | g.21575804C>A | CA416533063 | ALPL | c.1069C>A (p.Arg357=) n.338C>A c.144C>A c.838C>A (p.Arg280=) c.904C>A (p.Arg302=) c.913C>A (p.Arg305=) | |
1 | g.21575804C= | CA1158019303 | ALPL | c.1069C= (p.Arg357=) n.338C= c.144C= c.838C= (p.Arg280=) c.904C= (p.Arg302=) c.913C= (p.Arg305=) | |
1 | g.21575804C>G | CA338881168 | ALPL | c.1069C>G (p.Arg357Gly) n.338C>G c.144C>G c.838C>G (p.Arg280Gly) c.904C>G (p.Arg302Gly) c.913C>G (p.Arg305Gly) | |
1 | g.21575804C>T | CA666727 | ALPL | c.1069C>T (p.Arg357Trp) n.338C>T c.144C>T c.838C>T (p.Arg280Trp) c.904C>T (p.Arg302Trp) c.913C>T (p.Arg305Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.21575805G>A | CA666728 | ALPL | c.1070G>A (p.Arg357Gln) n.339G>A c.145G>A c.839G>A (p.Arg280Gln) c.905G>A (p.Arg302Gln) c.914G>A (p.Arg305Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.21575805G>C | CA338881169 | ALPL | c.1070G>C (p.Arg357Pro) n.339G>C c.145G>C c.839G>C (p.Arg280Pro) c.905G>C (p.Arg302Pro) c.914G>C (p.Arg305Pro) | |
1 | g.21575805G= | CA1143520638 | ALPL | c.1070G= (p.Arg357=) n.339G= c.145G= c.839G= (p.Arg280=) c.905G= (p.Arg302=) c.914G= (p.Arg305=) | |
1 | g.21575805G>T | CA338881170 | ALPL | c.1070G>T (p.Arg357Leu) n.339G>T c.145G>T c.839G>T (p.Arg280Leu) c.905G>T (p.Arg302Leu) c.914G>T (p.Arg305Leu) | |
1 | g.21575806G>A | CA416533073 | ALPL | c.1071G>A (p.Arg357=) n.340G>A c.146G>A c.840G>A (p.Arg280=) c.906G>A (p.Arg302=) c.915G>A (p.Arg305=) | ClinVar dbSNP |
1 | g.21575806G>C | CA416533069 | ALPL | c.1071G>C (p.Arg357=) n.340G>C c.146G>C c.840G>C (p.Arg280=) c.906G>C (p.Arg302=) c.915G>C (p.Arg305=) | |
1 | g.21575806G>T | CA416533072 | ALPL | c.1071G>T (p.Arg357=) n.340G>T c.146G>T c.840G>T (p.Arg280=) c.906G>T (p.Arg302=) c.915G>T (p.Arg305=) | |
1 | g.21575807G>A | CA338881171 | ALPL | c.1072G>A (p.Ala358Thr) n.341G>A c.147G>A c.841G>A (p.Ala281Thr) c.907G>A (p.Ala303Thr) c.916G>A (p.Ala306Thr) | ClinVar dbSNP |
1 | g.21575807G>C | CA338881172 | ALPL | c.1072G>C (p.Ala358Pro) n.341G>C c.147G>C c.841G>C (p.Ala281Pro) c.907G>C (p.Ala303Pro) c.916G>C (p.Ala306Pro) | |
1 | g.21575807G>T | CA338881173 | ALPL | c.1072G>T (p.Ala358Ser) n.341G>T c.147G>T c.841G>T (p.Ala281Ser) c.907G>T (p.Ala303Ser) c.916G>T (p.Ala306Ser) | |
1 | g.21575808C>A | CA338881174 | ALPL | c.1073C>A (p.Ala358Asp) n.342C>A c.148C>A c.842C>A (p.Ala281Asp) c.908C>A (p.Ala303Asp) c.917C>A (p.Ala306Asp) | |
1 | g.21575808C= | CA1158019304 | ALPL | c.1073C= (p.Ala358=) n.342C= c.148C= c.842C= (p.Ala281=) c.908C= (p.Ala303=) c.917C= (p.Ala306=) | |
1 | g.21575808C>G | CA338881175 | ALPL | c.1073C>G (p.Ala358Gly) n.342C>G c.148C>G c.842C>G (p.Ala281Gly) c.908C>G (p.Ala303Gly) c.917C>G (p.Ala306Gly) | |
1 | g.21575808C>T | CA338881176 | ALPL | c.1073C>T (p.Ala358Val) n.342C>T c.148C>T c.842C>T (p.Ala281Val) c.908C>T (p.Ala303Val) c.917C>T (p.Ala306Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.21575809C>A | CA416533089 | ALPL | c.1074C>A (p.Ala358=) n.343C>A c.149C>A c.843C>A (p.Ala281=) c.909C>A (p.Ala303=) c.918C>A (p.Ala306=) | |
1 | g.21575809C>G | CA416533083 | ALPL | c.1074C>G (p.Ala358=) n.343C>G c.149C>G c.843C>G (p.Ala281=) c.909C>G (p.Ala303=) c.918C>G (p.Ala306=) | |
1 | g.21575809C>T | CA416533087 | ALPL | c.1074C>T (p.Ala358=) n.343C>T c.149C>T c.843C>T (p.Ala281=) c.909C>T (p.Ala303=) c.918C>T (p.Ala306=) | |
1 | g.21575810A= | CA1158019305 | ALPL | c.1075A= (p.Ile359=) n.344A= c.150A= c.844A= (p.Ile282=) c.910A= (p.Ile304=) c.919A= (p.Ile307=) | |
1 | g.21575810A>C | CA338881179 | ALPL | c.1075A>C (p.Ile359Leu) n.344A>C c.150A>C c.844A>C (p.Ile282Leu) c.910A>C (p.Ile304Leu) c.919A>C (p.Ile307Leu) | |
1 | g.21575810A>G | CA338881178 | ALPL | c.1075A>G (p.Ile359Val) n.344A>G c.150A>G c.844A>G (p.Ile282Val) c.910A>G (p.Ile304Val) c.919A>G (p.Ile307Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.21575810A>T | CA338881177 | ALPL | c.1075A>T (p.Ile359Phe) n.344A>T c.150A>T c.844A>T (p.Ile282Phe) c.910A>T (p.Ile304Phe) c.919A>T (p.Ile307Phe) | |
1 | g.21575811T>A | CA338881180 | ALPL | c.1076T>A (p.Ile359Asn) n.345T>A c.151T>A c.845T>A (p.Ile282Asn) c.911T>A (p.Ile304Asn) c.920T>A (p.Ile307Asn) | |
1 | g.21575811T>C | CA338881181 | ALPL | c.1076T>C (p.Ile359Thr) n.345T>C c.151T>C c.845T>C (p.Ile282Thr) c.911T>C (p.Ile304Thr) c.920T>C (p.Ile307Thr) | |
1 | g.21575811T>G | CA338881182 | ALPL | c.1076T>G (p.Ile359Ser) n.345T>G c.151T>G c.845T>G (p.Ile282Ser) c.911T>G (p.Ile304Ser) c.920T>G (p.Ile307Ser) | |
1 | g.21575811T= | CA1158019306 | ALPL | c.1076T= (p.Ile359=) n.345T= c.151T= c.845T= (p.Ile282=) c.911T= (p.Ile304=) c.920T= (p.Ile307=) | |
1 | g.21575812C>A | CA416533099 | ALPL | c.1077C>A (p.Ile359=) n.346C>A c.152C>A c.846C>A (p.Ile282=) c.912C>A (p.Ile304=) c.921C>A (p.Ile307=) | |
1 | g.21575812C= | CA1147289500 | ALPL | c.1077C= (p.Ile359=) n.346C= c.152C= c.846C= (p.Ile282=) c.912C= (p.Ile304=) c.921C= (p.Ile307=) | |
1 | g.21575812C>G | CA338881183 | ALPL | c.1077C>G (p.Ile359Met) n.346C>G c.152C>G c.846C>G (p.Ile282Met) c.912C>G (p.Ile304Met) c.921C>G (p.Ile307Met) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.21575812C>T | CA666729 | ALPL | c.1077C>T (p.Ile359=) n.346C>T c.152C>T c.846C>T (p.Ile282=) c.912C>T (p.Ile304=) c.921C>T (p.Ile307=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.21575813_21575816dup | CA521899902 | ALPL | c.1078_1081dup (p.Gln361ArgfsTer?) n.347_350dup c.153_156dup c.847_850dup (p.Gln284ArgfsTer?) c.913_916dup (p.Gln306ArgfsTer?) c.922_925dup (p.Gln309ArgfsTer?) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.21575813G>A | CA666730 | ALPL | c.1078G>A (p.Gly360Arg) n.347G>A c.153G>A c.847G>A (p.Gly283Arg) c.913G>A (p.Gly305Arg) c.922G>A (p.Gly308Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.21575813G>C | CA338881184 | ALPL | c.1078G>C (p.Gly360Arg) n.347G>C c.153G>C c.847G>C (p.Gly283Arg) c.913G>C (p.Gly305Arg) c.922G>C (p.Gly308Arg) | |
1 | g.21575813G= | CA1158019307 | ALPL | c.1078G= (p.Gly360=) n.347G= c.153G= c.847G= (p.Gly283=) c.913G= (p.Gly305=) c.922G= (p.Gly308=) | |
1 | g.21575813G>T | CA338881185 | ALPL | c.1078G>T (p.Gly360Trp) n.347G>T c.153G>T c.847G>T (p.Gly283Trp) c.913G>T (p.Gly305Trp) c.922G>T (p.Gly308Trp) | |
1 | g.21575814G>A | CA338881186 | ALPL | c.1079G>A (p.Gly360Glu) n.348G>A c.154G>A c.848G>A (p.Gly283Glu) c.914G>A (p.Gly305Glu) c.923G>A (p.Gly308Glu) | |
1 | g.21575814G>C | CA338881187 | ALPL | c.1079G>C (p.Gly360Ala) n.348G>C c.154G>C c.848G>C (p.Gly283Ala) c.914G>C (p.Gly305Ala) c.923G>C (p.Gly308Ala) | |
1 | g.21575814G>T | CA338881188 | ALPL | c.1079G>T (p.Gly360Val) n.348G>T c.154G>T c.848G>T (p.Gly283Val) c.914G>T (p.Gly305Val) c.923G>T (p.Gly308Val) | |
1 | g.21575823_21575826dup | CA16040722 | ALPL | c.1088_1091dup (p.Ser364ArgfsTer?) n.357_360dup c.163_166dup c.857_860dup (p.Ser287ArgfsTer?) c.923_926dup (p.Ser309ArgfsTer?) c.932_935dup (p.Ser312ArgfsTer?) | ClinVar dbSNP |
1 | g.21575815G>A | CA416533114 | ALPL | c.1080G>A (p.Gly360=) n.349G>A c.155G>A c.849G>A (p.Gly283=) c.915G>A (p.Gly305=) c.924G>A (p.Gly308=) | gnomAD v4 |
1 | g.21575815G>C | CA416533117 | ALPL | c.1080G>C (p.Gly360=) n.349G>C c.155G>C c.849G>C (p.Gly283=) c.915G>C (p.Gly305=) c.924G>C (p.Gly308=) | |
1 | g.21575815G>T | CA416533115 | ALPL | c.1080G>T (p.Gly360=) n.349G>T c.155G>T c.849G>T (p.Gly283=) c.915G>T (p.Gly305=) c.924G>T (p.Gly308=) | |
1 | g.21575816C>A | CA338881190 | ALPL | c.1081C>A (p.Gln361Lys) n.350C>A c.156C>A c.850C>A (p.Gln284Lys) c.916C>A (p.Gln306Lys) c.925C>A (p.Gln309Lys) | |
1 | g.21575816C>G | CA338881189 | ALPL | c.1081C>G (p.Gln361Glu) n.350C>G c.156C>G c.850C>G (p.Gln284Glu) c.916C>G (p.Gln306Glu) c.925C>G (p.Gln309Glu) | |
1 | g.21575816C>T | CA338881191 | ALPL | c.1081C>T (p.Gln361Ter) n.350C>T c.156C>T c.850C>T (p.Gln284Ter) c.916C>T (p.Gln306Ter) c.925C>T (p.Gln309Ter) | |
1 | g.21575817A= | CA1158019308 | ALPL | c.1082A= (p.Gln361=) n.351A= c.157A= c.851A= (p.Gln284=) c.917A= (p.Gln306=) c.926A= (p.Gln309=) | |
1 | g.21575817A>C | CA338881192 | ALPL | c.1082A>C (p.Gln361Pro) n.351A>C c.157A>C c.851A>C (p.Gln284Pro) c.917A>C (p.Gln306Pro) c.926A>C (p.Gln309Pro) | |
1 | g.21575817A>G | CA338881193 | ALPL | c.1082A>G (p.Gln361Arg) n.351A>G c.157A>G c.851A>G (p.Gln284Arg) c.917A>G (p.Gln306Arg) c.926A>G (p.Gln309Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.21575817A>T | CA338881194 | ALPL | c.1082A>T (p.Gln361Leu) n.351A>T c.157A>T c.851A>T (p.Gln284Leu) c.917A>T (p.Gln306Leu) c.926A>T (p.Gln309Leu) | |
1 | g.21575818G>A | CA416533125 | ALPL | c.1083G>A (p.Gln361=) n.352G>A c.158G>A c.852G>A (p.Gln284=) c.918G>A (p.Gln306=) c.927G>A (p.Gln309=) | gnomAD v4 |
1 | g.21575818G>C | CA338881195 | ALPL | c.1083G>C (p.Gln361His) n.352G>C c.158G>C c.852G>C (p.Gln284His) c.918G>C (p.Gln306His) c.927G>C (p.Gln309His) | |
1 | g.21575818G>T | CA338881196 | ALPL | c.1083G>T (p.Gln361His) n.352G>T c.158G>T c.852G>T (p.Gln284His) c.918G>T (p.Gln306His) c.927G>T (p.Gln309His) | |
1 | g.21575819G>A | CA338881197 | ALPL | c.1084G>A (p.Ala362Thr) n.353G>A c.159G>A c.853G>A (p.Ala285Thr) c.919G>A (p.Ala307Thr) c.928G>A (p.Ala310Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.21575819G>C | CA338881198 | ALPL | c.1084G>C (p.Ala362Pro) n.353G>C c.159G>C c.853G>C (p.Ala285Pro) c.919G>C (p.Ala307Pro) c.928G>C (p.Ala310Pro) | |
1 | g.21575819G= | CA1158019309 | ALPL | c.1084G= (p.Ala362=) n.353G= c.159G= c.853G= (p.Ala285=) c.919G= (p.Ala307=) c.928G= (p.Ala310=) | |
1 | g.21575819G>T | CA338881199 | ALPL | c.1084G>T (p.Ala362Ser) n.353G>T c.159G>T c.853G>T (p.Ala285Ser) c.919G>T (p.Ala307Ser) c.928G>T (p.Ala310Ser) | gnomAD v4 |
1 | g.21575820C>A | CA338881200 | ALPL | c.1085C>A (p.Ala362Glu) n.354C>A c.160C>A c.854C>A (p.Ala285Glu) c.920C>A (p.Ala307Glu) c.929C>A (p.Ala310Glu) | |
1 | g.21575820C= | CA1158019310 | ALPL | c.1085C= (p.Ala362=) n.354C= c.160C= c.854C= (p.Ala285=) c.920C= (p.Ala307=) c.929C= (p.Ala310=) | |
1 | g.21575820C>G | CA338881201 | ALPL | c.1085C>G (p.Ala362Gly) n.354C>G c.160C>G c.854C>G (p.Ala285Gly) c.920C>G (p.Ala307Gly) c.929C>G (p.Ala310Gly) | dbSNP |
1 | g.21575820C>T | CA338881202 | ALPL | c.1085C>T (p.Ala362Val) n.354C>T c.160C>T c.854C>T (p.Ala285Val) c.920C>T (p.Ala307Val) c.929C>T (p.Ala310Val) | |
1 | g.21575821A>C | CA416533137 | ALPL | c.1086A>C (p.Ala362=) n.355A>C c.161A>C c.855A>C (p.Ala285=) c.921A>C (p.Ala307=) c.930A>C (p.Ala310=) | |
1 | g.21575821A>G | CA416533139 | ALPL | c.1086A>G (p.Ala362=) n.355A>G c.161A>G c.855A>G (p.Ala285=) c.921A>G (p.Ala307=) c.930A>G (p.Ala310=) | |
1 | g.21575821A>T | CA416533135 | ALPL | c.1086A>T (p.Ala362=) n.355A>T c.161A>T c.855A>T (p.Ala285=) c.921A>T (p.Ala307=) c.930A>T (p.Ala310=) | |
1 | g.21575822G>A | CA338881205 | ALPL | c.1087G>A (p.Gly363Ser) n.356G>A c.162G>A c.856G>A (p.Gly286Ser) c.922G>A (p.Gly308Ser) c.931G>A (p.Gly311Ser) | |
1 | g.21575822G>C | CA338881204 | ALPL | c.1087G>C (p.Gly363Arg) n.356G>C c.162G>C c.856G>C (p.Gly286Arg) c.922G>C (p.Gly308Arg) c.931G>C (p.Gly311Arg) | |
1 | g.21575822G>T | CA338881203 | ALPL | c.1087G>T (p.Gly363Cys) n.356G>T c.162G>T c.856G>T (p.Gly286Cys) c.922G>T (p.Gly308Cys) c.931G>T (p.Gly311Cys) | |
1 | g.21575823G>A | CA338881206 | ALPL | c.1088G>A (p.Gly363Asp) n.357G>A c.163G>A c.857G>A (p.Gly286Asp) c.923G>A (p.Gly308Asp) c.932G>A (p.Gly311Asp) | |
1 | g.21575823G>C | CA338881207 | ALPL | c.1088G>C (p.Gly363Ala) n.357G>C c.163G>C c.857G>C (p.Gly286Ala) c.923G>C (p.Gly308Ala) c.932G>C (p.Gly311Ala) | |
1 | g.21575823G>T | CA338881208 | ALPL | c.1088G>T (p.Gly363Val) n.357G>T c.163G>T c.857G>T (p.Gly286Val) c.923G>T (p.Gly308Val) c.932G>T (p.Gly311Val) | |
1 | g.21575824C>A | CA416533149 | ALPL | c.1089C>A (p.Gly363=) n.358C>A c.164C>A c.858C>A (p.Gly286=) c.924C>A (p.Gly308=) c.933C>A (p.Gly311=) | COSMIC |
1 | g.21575824C>G | CA416533152 | ALPL | c.1089C>G (p.Gly363=) n.358C>G c.164C>G c.858C>G (p.Gly286=) c.924C>G (p.Gly308=) c.933C>G (p.Gly311=) | |
1 | g.21575824C>T | CA416533153 | ALPL | c.1089C>T (p.Gly363=) n.358C>T c.164C>T c.858C>T (p.Gly286=) c.924C>T (p.Gly308=) c.933C>T (p.Gly311=) | ClinVar |
1 | g.21575825A>C | CA338881209 | ALPL | c.1090A>C (p.Ser364Arg) n.359A>C c.165A>C c.859A>C (p.Ser287Arg) c.925A>C (p.Ser309Arg) c.934A>C (p.Ser312Arg) | |
1 | g.21575825A>G | CA338881210 | ALPL | c.1090A>G (p.Ser364Gly) n.359A>G c.165A>G c.859A>G (p.Ser287Gly) c.925A>G (p.Ser309Gly) c.934A>G (p.Ser312Gly) | |
1 | g.21575825A>T | CA338881211 | ALPL | c.1090A>T (p.Ser364Cys) n.359A>T c.165A>T c.859A>T (p.Ser287Cys) c.925A>T (p.Ser309Cys) c.934A>T (p.Ser312Cys) | |
1 | g.21575826G>A | CA338881212 | ALPL | c.1091G>A (p.Ser364Asn) n.360G>A c.166G>A c.860G>A (p.Ser287Asn) c.926G>A (p.Ser309Asn) c.935G>A (p.Ser312Asn) | |
1 | g.21575826G>C | CA338881213 | ALPL | c.1091G>C (p.Ser364Thr) n.360G>C c.166G>C c.860G>C (p.Ser287Thr) c.926G>C (p.Ser309Thr) c.935G>C (p.Ser312Thr) | |
1 | g.21575826G>T | CA338881214 | ALPL | c.1091G>T (p.Ser364Ile) n.360G>T c.166G>T c.860G>T (p.Ser287Ile) c.926G>T (p.Ser309Ile) c.935G>T (p.Ser312Ile) | |
1 | g.21575827C>A | CA338881215 | ALPL | c.1092C>A (p.Ser364Arg) n.361C>A c.167C>A c.861C>A (p.Ser287Arg) c.927C>A (p.Ser309Arg) c.936C>A (p.Ser312Arg) | |
1 | g.21575827C= | CA1158019311 | ALPL | c.1092C= (p.Ser364=) n.361C= c.167C= c.861C= (p.Ser287=) c.927C= (p.Ser309=) c.936C= (p.Ser312=) | |
1 | g.21575827C>G | CA338881216 | ALPL | c.1092C>G (p.Ser364Arg) n.361C>G c.167C>G c.861C>G (p.Ser287Arg) c.927C>G (p.Ser309Arg) c.936C>G (p.Ser312Arg) | |
1 | g.21575827C>T | CA416533168 | ALPL | c.1092C>T (p.Ser364=) n.361C>T c.167C>T c.861C>T (p.Ser287=) c.927C>T (p.Ser309=) c.936C>T (p.Ser312=) | ClinVar dbSNP gnomAD v4 |
1 | g.21575828T>A | CA338881218 | ALPL | c.1093T>A (p.Leu365Met) n.362T>A c.168T>A c.862T>A (p.Leu288Met) c.928T>A (p.Leu310Met) c.937T>A (p.Leu313Met) | |
1 | g.21575828T>C | CA416533173 | ALPL | c.1093T>C (p.Leu365=) n.362T>C c.168T>C c.862T>C (p.Leu288=) c.928T>C (p.Leu310=) c.937T>C (p.Leu313=) | dbSNP |
1 | g.21575828T>G | CA338881217 | ALPL | c.1093T>G (p.Leu365Val) n.362T>G c.168T>G c.862T>G (p.Leu288Val) c.928T>G (p.Leu310Val) c.937T>G (p.Leu313Val) | |
1 | g.21575829T>A | CA338881219 | ALPL | c.1094T>A (p.Leu365Ter) n.363T>A c.169T>A c.863T>A (p.Leu288Ter) c.929T>A (p.Leu310Ter) c.938T>A (p.Leu313Ter) | |
1 | g.21575829T>C | CA338881221 | ALPL | c.1094T>C (p.Leu365Ser) n.363T>C c.169T>C c.863T>C (p.Leu288Ser) c.929T>C (p.Leu310Ser) c.938T>C (p.Leu313Ser) | |
1 | g.21575829T>G | CA338881220 | ALPL | c.1094T>G (p.Leu365Trp) n.363T>G c.169T>G c.863T>G (p.Leu288Trp) c.929T>G (p.Leu310Trp) c.938T>G (p.Leu313Trp) | ClinVar dbSNP |
1 | g.21575830G>A | CA416533175 | ALPL | c.1095G>A (p.Leu365=) n.364G>A c.170G>A c.864G>A (p.Leu288=) c.930G>A (p.Leu310=) c.939G>A (p.Leu313=) | |
1 | g.21575830G>C | CA338881222 | ALPL | c.1095G>C (p.Leu365Phe) n.364G>C c.170G>C c.864G>C (p.Leu288Phe) c.930G>C (p.Leu310Phe) c.939G>C (p.Leu313Phe) | |
1 | g.21575830G>T | CA338881223 | ALPL | c.1095G>T (p.Leu365Phe) n.364G>T c.170G>T c.864G>T (p.Leu288Phe) c.930G>T (p.Leu310Phe) c.939G>T (p.Leu313Phe) | |
1 | g.21575831A>C | CA338881224 | ALPL | c.1096A>C (p.Thr366Pro) n.365A>C c.171A>C c.865A>C (p.Thr289Pro) c.931A>C (p.Thr311Pro) c.940A>C (p.Thr314Pro) | |
1 | g.21575831A>G | CA338881225 | ALPL | c.1096A>G (p.Thr366Ala) n.365A>G c.171A>G c.865A>G (p.Thr289Ala) c.931A>G (p.Thr311Ala) c.940A>G (p.Thr314Ala) | |
1 | g.21575831A>T | CA338881226 | ALPL | c.1096A>T (p.Thr366Ser) n.365A>T c.171A>T c.865A>T (p.Thr289Ser) c.931A>T (p.Thr311Ser) c.940A>T (p.Thr314Ser) | |
1 | g.21575831_21575834delinsACCT | CA1158019312 | ALPL | c.1096_1099delinsACCT (p.Thr366=) n.365_368delinsACCT c.171_174delinsACCT c.865_868delinsACCT (p.Thr289=) c.931_934delinsACCT (p.Thr311=) c.940_943delinsACCT (p.Thr314=) | |
1 | g.21575832C>A | CA338881227 | ALPL | c.1097C>A (p.Thr366Asn) n.366C>A c.172C>A c.866C>A (p.Thr289Asn) c.932C>A (p.Thr311Asn) c.941C>A (p.Thr314Asn) | |
1 | g.21575832C>G | CA338881228 | ALPL | c.1097C>G (p.Thr366Ser) n.366C>G c.172C>G c.866C>G (p.Thr289Ser) c.932C>G (p.Thr311Ser) c.941C>G (p.Thr314Ser) | |
1 | g.21575832C>T | CA338881229 | ALPL | c.1097C>T (p.Thr366Ile) n.366C>T c.172C>T c.866C>T (p.Thr289Ile) c.932C>T (p.Thr311Ile) c.941C>T (p.Thr314Ile) | ClinVar gnomAD v4 |
1 | g.21575836_21575838del | CA891842433 | ALPL | c.1101_1103del (p.Ser368del) n.370_372del c.176_178del c.870_872del (p.Ser291del) c.936_938del (p.Ser313del) c.945_947del (p.Ser316del) | ClinVar dbSNP gnomAD v4 |
1 | g.21575833C>A | CA416533191 | ALPL | c.1098C>A (p.Thr366=) n.367C>A c.173C>A c.867C>A (p.Thr289=) c.933C>A (p.Thr311=) c.942C>A (p.Thr314=) | |
1 | g.21575833C= | CA1158019313 | ALPL | c.1098C= (p.Thr366=) n.367C= c.173C= c.867C= (p.Thr289=) c.933C= (p.Thr311=) c.942C= (p.Thr314=) | |
1 | g.21575833C>G | CA416533187 | ALPL | c.1098C>G (p.Thr366=) n.367C>G c.173C>G c.867C>G (p.Thr289=) c.933C>G (p.Thr311=) c.942C>G (p.Thr314=) | ClinVar dbSNP COSMIC |
1 | g.21575833C>T | CA416533189 | ALPL | c.1098C>T (p.Thr366=) n.367C>T c.173C>T c.867C>T (p.Thr289=) c.933C>T (p.Thr311=) c.942C>T (p.Thr314=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.21575834T>A | CA338881230 | ALPL | c.1099T>A (p.Ser367Thr) n.368T>A c.174T>A c.868T>A (p.Ser290Thr) c.934T>A (p.Ser312Thr) c.943T>A (p.Ser315Thr) | ClinVar |
1 | g.21575834T>C | CA338881231 | ALPL | c.1099T>C (p.Ser367Pro) n.368T>C c.174T>C c.868T>C (p.Ser290Pro) c.934T>C (p.Ser312Pro) c.943T>C (p.Ser315Pro) | |
1 | g.21575834T>G | CA338881232 | ALPL | c.1099T>G (p.Ser367Ala) n.368T>G c.174T>G c.868T>G (p.Ser290Ala) c.934T>G (p.Ser312Ala) c.943T>G (p.Ser315Ala) | |
1 | g.21575835C>A | CA338881235 | ALPL | c.1100C>A (p.Ser367Tyr) n.369C>A c.175C>A c.869C>A (p.Ser290Tyr) c.935C>A (p.Ser312Tyr) c.944C>A (p.Ser315Tyr) | |
1 | g.21575835C= | CA1158019314 | ALPL | c.1100C= (p.Ser367=) n.369C= c.175C= c.869C= (p.Ser290=) c.935C= (p.Ser312=) c.944C= (p.Ser315=) | |
1 | g.21575835C>G | CA338881233 | ALPL | c.1100C>G (p.Ser367Cys) n.369C>G c.175C>G c.869C>G (p.Ser290Cys) c.935C>G (p.Ser312Cys) c.944C>G (p.Ser315Cys) | |
1 | g.21575835C>T | CA338881234 | ALPL | c.1100C>T (p.Ser367Phe) n.369C>T c.175C>T c.869C>T (p.Ser290Phe) c.935C>T (p.Ser312Phe) c.944C>T (p.Ser315Phe) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.21575836C>A | CA416533200 | ALPL | c.1101C>A (p.Ser367=) n.370C>A c.176C>A c.870C>A (p.Ser290=) c.936C>A (p.Ser312=) c.945C>A (p.Ser315=) | COSMIC |
1 | g.21575836C= | CA1158019315 | ALPL | c.1101C= (p.Ser367=) n.370C= c.176C= c.870C= (p.Ser290=) c.936C= (p.Ser312=) c.945C= (p.Ser315=) | |
1 | g.21575836C>G | CA416533203 | ALPL | c.1101C>G (p.Ser367=) n.370C>G c.176C>G c.870C>G (p.Ser290=) c.936C>G (p.Ser312=) c.945C>G (p.Ser315=) | |
1 | g.21575836C>T | CA666731 | ALPL | c.1101C>T (p.Ser367=) n.370C>T c.176C>T c.870C>T (p.Ser290=) c.936C>T (p.Ser312=) c.945C>T (p.Ser315=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.21575837T>A | CA338881236 | ALPL | c.1102T>A (p.Ser368Thr) n.371T>A c.177T>A c.871T>A (p.Ser291Thr) c.937T>A (p.Ser313Thr) c.946T>A (p.Ser316Thr) | |
1 | g.21575837T>C | CA338881237 | ALPL | c.1102T>C (p.Ser368Pro) n.371T>C c.177T>C c.871T>C (p.Ser291Pro) c.937T>C (p.Ser313Pro) c.946T>C (p.Ser316Pro) | |
1 | g.21575837T>G | CA338881238 | ALPL | c.1102T>G (p.Ser368Ala) n.371T>G c.177T>G c.871T>G (p.Ser291Ala) c.937T>G (p.Ser313Ala) c.946T>G (p.Ser316Ala) | |
1 | g.21575838C>A | CA338881239 | ALPL | c.1103C>A (p.Ser368Ter) n.372C>A c.178C>A c.872C>A (p.Ser291Ter) c.938C>A (p.Ser313Ter) c.947C>A (p.Ser316Ter) | |
1 | g.21575838C= | CA1143621752 | ALPL | c.1103C= (p.Ser368=) n.372C= c.178C= c.872C= (p.Ser291=) c.938C= (p.Ser313=) c.947C= (p.Ser316=) | |
1 | g.21575838C>G | CA338881241 | ALPL | c.1103C>G (p.Ser368Trp) n.372C>G c.178C>G c.872C>G (p.Ser291Trp) c.938C>G (p.Ser313Trp) c.947C>G (p.Ser316Trp) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.21575838C>T | CA666732 | ALPL | c.1103C>T (p.Ser368Leu) n.372C>T c.178C>T c.872C>T (p.Ser291Leu) c.938C>T (p.Ser313Leu) c.947C>T (p.Ser316Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.21575839G>A | CA416533214 | ALPL | c.1104G>A (p.Ser368=) n.373G>A c.179G>A c.873G>A (p.Ser291=) c.939G>A (p.Ser313=) c.948G>A (p.Ser316=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.21575839G>C | CA416533220 | ALPL | c.1104G>C (p.Ser368=) n.373G>C c.179G>C c.873G>C (p.Ser291=) c.939G>C (p.Ser313=) c.948G>C (p.Ser316=) | |
1 | g.21575839G= | CA1158019316 | ALPL | c.1104G= (p.Ser368=) n.373G= c.179G= c.873G= (p.Ser291=) c.939G= (p.Ser313=) c.948G= (p.Ser316=) | |
1 | g.21575839G>T | CA416533211 | ALPL | c.1104G>T (p.Ser368=) n.373G>T c.179G>T c.873G>T (p.Ser291=) c.939G>T (p.Ser313=) c.948G>T (p.Ser316=) | ClinVar |
1 | g.21575840G>A | CA338881244 | ALPL | c.1105G>A (p.Glu369Lys) n.374G>A c.180G>A c.874G>A (p.Glu292Lys) c.940G>A (p.Glu314Lys) c.949G>A (p.Glu317Lys) | |
1 | g.21575840G>C | CA338881245 | ALPL | c.1105G>C (p.Glu369Gln) n.374G>C c.180G>C c.874G>C (p.Glu292Gln) c.940G>C (p.Glu314Gln) c.949G>C (p.Glu317Gln) | |
1 | g.21575840G>T | CA338881247 | ALPL | c.1105G>T (p.Glu369Ter) n.374G>T c.180G>T c.874G>T (p.Glu292Ter) c.940G>T (p.Glu314Ter) c.949G>T (p.Glu317Ter) | |
1 | g.21575841A>C | CA338881251 | ALPL | c.1106A>C (p.Glu369Ala) n.375A>C c.181A>C c.875A>C (p.Glu292Ala) c.941A>C (p.Glu314Ala) c.950A>C (p.Glu317Ala) | |
1 | g.21575841A>G | CA338881252 | ALPL | c.1106A>G (p.Glu369Gly) n.375A>G c.181A>G c.875A>G (p.Glu292Gly) c.941A>G (p.Glu314Gly) c.950A>G (p.Glu317Gly) | |
1 | g.21575841A>T | CA338881249 | ALPL | c.1106A>T (p.Glu369Val) n.375A>T c.181A>T c.875A>T (p.Glu292Val) c.941A>T (p.Glu314Val) c.950A>T (p.Glu317Val) | |
1 | g.21575842A>C | CA338881254 | ALPL | c.1107A>C (p.Glu369Asp) n.376A>C c.182A>C c.876A>C (p.Glu292Asp) c.942A>C (p.Glu314Asp) c.951A>C (p.Glu317Asp) | |
1 | g.21575842A>G | CA416533228 | ALPL | c.1107A>G (p.Glu369=) n.376A>G c.182A>G c.876A>G (p.Glu292=) c.942A>G (p.Glu314=) c.951A>G (p.Glu317=) | |
1 | g.21575842A>T | CA338881256 | ALPL | c.1107A>T (p.Glu369Asp) n.376A>T c.182A>T c.876A>T (p.Glu292Asp) c.942A>T (p.Glu314Asp) c.951A>T (p.Glu317Asp) | |
1 | g.21575843G>A | CA338881258 | ALPL | c.1108G>A (p.Asp370Asn) n.377G>A c.183G>A c.877G>A (p.Asp293Asn) c.943G>A (p.Asp315Asn) c.952G>A (p.Asp318Asn) | |
1 | g.21575843G>C | CA338881259 | ALPL | c.1108G>C (p.Asp370His) n.377G>C c.183G>C c.877G>C (p.Asp293His) c.943G>C (p.Asp315His) c.952G>C (p.Asp318His) | |
1 | g.21575843G>T | CA338881260 | ALPL | c.1108G>T (p.Asp370Tyr) n.377G>T c.183G>T c.877G>T (p.Asp293Tyr) c.943G>T (p.Asp315Tyr) c.952G>T (p.Asp318Tyr) | |
1 | g.21575844A>C | CA338881263 | ALPL | c.1109A>C (p.Asp370Ala) n.378A>C c.184A>C c.878A>C (p.Asp293Ala) c.944A>C (p.Asp315Ala) c.953A>C (p.Asp318Ala) | |
1 | g.21575844A>G | CA338881264 | ALPL | c.1109A>G (p.Asp370Gly) n.378A>G c.184A>G c.878A>G (p.Asp293Gly) c.944A>G (p.Asp315Gly) c.953A>G (p.Asp318Gly) | |
1 | g.21575844A>T | CA338881266 | ALPL | c.1109A>T (p.Asp370Val) n.378A>T c.184A>T c.878A>T (p.Asp293Val) c.944A>T (p.Asp315Val) c.953A>T (p.Asp318Val) | |
1 | g.21575845C>A | CA338881268 | ALPL | c.1110C>A (p.Asp370Glu) n.379C>A c.185C>A c.879C>A (p.Asp293Glu) c.945C>A (p.Asp315Glu) c.954C>A (p.Asp318Glu) | |
1 | g.21575845C>G | CA338881270 | ALPL | c.1110C>G (p.Asp370Glu) n.379C>G c.185C>G c.879C>G (p.Asp293Glu) c.945C>G (p.Asp315Glu) c.954C>G (p.Asp318Glu) | |
1 | g.21575845C>T | CA416533243 | ALPL | c.1110C>T (p.Asp370=) n.379C>T c.185C>T c.879C>T (p.Asp293=) c.945C>T (p.Asp315=) c.954C>T (p.Asp318=) | ClinVar dbSNP gnomAD v4 |
1 | g.21575846A= | CA1158019318 | ALPL | c.1111A= (p.Thr371=) n.380A= c.186A= c.880A= (p.Thr294=) c.946A= (p.Thr316=) c.955A= (p.Thr319=) | |
1 | g.21575846A>C | CA338881271 | ALPL | c.1111A>C (p.Thr371Pro) n.380A>C c.186A>C c.880A>C (p.Thr294Pro) c.946A>C (p.Thr316Pro) c.955A>C (p.Thr319Pro) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.21575846A>G | CA338881273 | ALPL | c.1111A>G (p.Thr371Ala) n.380A>G c.186A>G c.880A>G (p.Thr294Ala) c.946A>G (p.Thr316Ala) c.955A>G (p.Thr319Ala) | |
1 | g.21575846A>T | CA338881275 | ALPL | c.1111A>T (p.Thr371Ser) n.380A>T c.186A>T c.880A>T (p.Thr294Ser) c.946A>T (p.Thr316Ser) c.955A>T (p.Thr319Ser) | |
1 | g.21575846_21575848del | CA913072855 | ALPL | c.1111_1113del (p.Thr371del) n.380_382del c.186_188del c.880_882del (p.Thr294del) c.946_948del (p.Thr316del) c.955_957del (p.Thr319del) | |
1 | g.21575846_21575848delinsACT | CA1158019317 | ALPL | c.1111_1113delinsACT (p.Thr371=) n.380_382delinsACT c.186_188delinsACT c.880_882delinsACT (p.Thr294=) c.946_948delinsACT (p.Thr316=) c.955_957delinsACT (p.Thr319=) | |
1 | g.21575847C>A | CA338881279 | ALPL | c.1112C>A (p.Thr371Asn) n.381C>A c.187C>A c.881C>A (p.Thr294Asn) c.947C>A (p.Thr316Asn) c.956C>A (p.Thr319Asn) | |
1 | g.21575847C= | CA1158019319 | ALPL | c.1112C= (p.Thr371=) n.381C= c.187C= c.881C= (p.Thr294=) c.947C= (p.Thr316=) c.956C= (p.Thr319=) | |
1 | g.21575847C>G | CA338881277 | ALPL | c.1112C>G (p.Thr371Ser) n.381C>G c.187C>G c.881C>G (p.Thr294Ser) c.947C>G (p.Thr316Ser) c.956C>G (p.Thr319Ser) | |
1 | g.21575847C>T | CA666733 | ALPL | c.1112C>T (p.Thr371Ile) n.381C>T c.187C>T c.881C>T (p.Thr294Ile) c.947C>T (p.Thr316Ile) c.956C>T (p.Thr319Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.21575849_21575850del | CA658820991 | ALPL | c.1114_1115del (p.Leu372AspfsTer?) n.383_384del c.189_190del c.883_884del (p.Leu295AspfsTer?) c.949_950del (p.Leu317AspfsTer?) c.958_959del (p.Leu320AspfsTer?) | ClinVar dbSNP gnomAD v4 |
1 | g.21575848T>A | CA416533254 | ALPL | c.1113T>A (p.Thr371=) n.382T>A c.188T>A c.882T>A (p.Thr294=) c.948T>A (p.Thr316=) c.957T>A (p.Thr319=) | ClinVar |
1 | g.21575848T>C | CA416533256 | ALPL | c.1113T>C (p.Thr371=) n.382T>C c.188T>C c.882T>C (p.Thr294=) c.948T>C (p.Thr316=) c.957T>C (p.Thr319=) | |
1 | g.21575848T>G | CA416533251 | ALPL | c.1113T>G (p.Thr371=) n.382T>G c.188T>G c.882T>G (p.Thr294=) c.948T>G (p.Thr316=) c.957T>G (p.Thr319=) | |
1 | g.21575849C>A | CA338881281 | ALPL | c.1114C>A (p.Leu372Met) n.383C>A c.189C>A c.883C>A (p.Leu295Met) c.949C>A (p.Leu317Met) c.958C>A (p.Leu320Met) | |
1 | g.21575849C= | CA1158019320 | ALPL | c.1114C= (p.Leu372=) n.383C= c.189C= c.883C= (p.Leu295=) c.949C= (p.Leu317=) c.958C= (p.Leu320=) | |
1 | g.21575849C>G | CA338881282 | ALPL | c.1114C>G (p.Leu372Val) n.383C>G c.189C>G c.883C>G (p.Leu295Val) c.949C>G (p.Leu317Val) c.958C>G (p.Leu320Val) | dbSNP gnomAD v2 |
1 | g.21575849C>T | CA416533261 | ALPL | c.1114C>T (p.Leu372=) n.383C>T c.189C>T c.883C>T (p.Leu295=) c.949C>T (p.Leu317=) c.958C>T (p.Leu320=) | |
1 | g.21575850T>A | CA338881284 | ALPL | c.1115T>A (p.Leu372Gln) n.384T>A c.190T>A c.884T>A (p.Leu295Gln) c.950T>A (p.Leu317Gln) c.959T>A (p.Leu320Gln) | |
1 | g.21575850T>C | CA338881286 | ALPL | c.1115T>C (p.Leu372Pro) n.384T>C c.190T>C c.884T>C (p.Leu295Pro) c.950T>C (p.Leu317Pro) c.959T>C (p.Leu320Pro) | |
1 | g.21575850T>G | CA338881288 | ALPL | c.1115T>G (p.Leu372Arg) n.384T>G c.190T>G c.884T>G (p.Leu295Arg) c.950T>G (p.Leu317Arg) c.959T>G (p.Leu320Arg) | |
1 | g.21575851G>A | CA416533269 | ALPL | c.1116G>A (p.Leu372=) n.385G>A c.191G>A c.885G>A (p.Leu295=) c.951G>A (p.Leu317=) c.960G>A (p.Leu320=) | ClinVar |
1 | g.21575851G>C | CA19070253 | ALPL | c.1116G>C (p.Leu372=) n.385G>C c.191G>C c.885G>C (p.Leu295=) c.951G>C (p.Leu317=) c.960G>C (p.Leu320=) | dbSNP gnomAD v4 |
1 | g.21575851G= | CA1143398688 | ALPL | c.1116G= (p.Leu372=) n.385G= c.191G= c.885G= (p.Leu295=) c.951G= (p.Leu317=) c.960G= (p.Leu320=) | |
1 | g.21575851G>T | CA416533272 | ALPL | c.1116G>T (p.Leu372=) n.385G>T c.191G>T c.885G>T (p.Leu295=) c.951G>T (p.Leu317=) c.960G>T (p.Leu320=) | |
1 | g.21575852A>C | CA338881290 | ALPL | c.1117A>C (p.Thr373Pro) n.386A>C c.192A>C c.886A>C (p.Thr296Pro) c.952A>C (p.Thr318Pro) c.961A>C (p.Thr321Pro) | |
1 | g.21575852A>G | CA338881291 | ALPL | c.1117A>G (p.Thr373Ala) n.386A>G c.192A>G c.886A>G (p.Thr296Ala) c.952A>G (p.Thr318Ala) c.961A>G (p.Thr321Ala) | |
1 | g.21575852A>T | CA338881293 | ALPL | c.1117A>T (p.Thr373Ser) n.386A>T c.192A>T c.886A>T (p.Thr296Ser) c.952A>T (p.Thr318Ser) c.961A>T (p.Thr321Ser) | |
1 | g.21575853C>A | CA338881295 | ALPL | c.1118C>A (p.Thr373Asn) n.387C>A c.193C>A c.887C>A (p.Thr296Asn) c.953C>A (p.Thr318Asn) c.962C>A (p.Thr321Asn) | |
1 | g.21575853C>G | CA338881296 | ALPL | c.1118C>G (p.Thr373Ser) n.387C>G c.193C>G c.887C>G (p.Thr296Ser) c.953C>G (p.Thr318Ser) c.962C>G (p.Thr321Ser) | |
1 | g.21575853C>T | CA338881297 | ALPL | c.1118C>T (p.Thr373Ile) n.387C>T c.193C>T c.887C>T (p.Thr296Ile) c.953C>T (p.Thr318Ile) c.962C>T (p.Thr321Ile) | |
1 | g.21575854C>A | CA416533288 | ALPL | c.1119C>A (p.Thr373=) n.388C>A c.194C>A c.888C>A (p.Thr296=) c.954C>A (p.Thr318=) c.963C>A (p.Thr321=) | |
1 | g.21575854C= | CA1141262812 | ALPL | c.1119C= (p.Thr373=) n.388C= c.194C= c.888C= (p.Thr296=) c.954C= (p.Thr318=) c.963C= (p.Thr321=) | |
1 | g.21575854C>G | CA416533290 | ALPL | c.1119C>G (p.Thr373=) n.388C>G c.194C>G c.888C>G (p.Thr296=) c.954C>G (p.Thr318=) c.963C>G (p.Thr321=) | |
1 | g.21575854C>T | CA666734 | ALPL | c.1119C>T (p.Thr373=) n.388C>T c.194C>T c.888C>T (p.Thr296=) c.954C>T (p.Thr318=) c.963C>T (p.Thr321=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.21575855G>A | CA666735 | ALPL | c.1120G>A (p.Val374Met) n.389G>A c.195G>A c.889G>A (p.Val297Met) c.955G>A (p.Val319Met) c.964G>A (p.Val322Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.21575855G>C | CA338881302 | ALPL | c.1120G>C (p.Val374Leu) n.389G>C c.195G>C c.889G>C (p.Val297Leu) c.955G>C (p.Val319Leu) c.964G>C (p.Val322Leu) | |
1 | g.21575855G= | CA1146184802 | ALPL | c.1120G= (p.Val374=) n.389G= c.195G= c.889G= (p.Val297=) c.955G= (p.Val319=) c.964G= (p.Val322=) | |
1 | g.21575855G>T | CA338881300 | ALPL | c.1120G>T (p.Val374Leu) n.389G>T c.195G>T c.889G>T (p.Val297Leu) c.955G>T (p.Val319Leu) c.964G>T (p.Val322Leu) | gnomAD v4 |
1 | g.21575856T>A | CA338881308 | ALPL | c.1121T>A (p.Val374Glu) n.390T>A c.196T>A c.890T>A (p.Val297Glu) c.956T>A (p.Val319Glu) c.965T>A (p.Val322Glu) | |
1 | g.21575856T>C | CA338881304 | ALPL | c.1121T>C (p.Val374Ala) n.390T>C c.196T>C c.890T>C (p.Val297Ala) c.956T>C (p.Val319Ala) c.965T>C (p.Val322Ala) | |
1 | g.21575856T>G | CA338881306 | ALPL | c.1121T>G (p.Val374Gly) n.390T>G c.196T>G c.890T>G (p.Val297Gly) c.956T>G (p.Val319Gly) c.965T>G (p.Val322Gly) | |
1 | g.21575857G>A | CA666736 | ALPL | c.1122G>A (p.Val374=) n.391G>A c.197G>A c.891G>A (p.Val297=) c.957G>A (p.Val319=) c.966G>A (p.Val322=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.21575857G>C | CA416533306 | ALPL | c.1122G>C (p.Val374=) n.391G>C c.197G>C c.891G>C (p.Val297=) c.957G>C (p.Val319=) c.966G>C (p.Val322=) | |
1 | g.21575857G= | CA1148875596 | ALPL | c.1122G= (p.Val374=) n.391G= c.197G= c.891G= (p.Val297=) c.957G= (p.Val319=) c.966G= (p.Val322=) | |
1 | g.21575857G>T | CA416533303 | ALPL | c.1122G>T (p.Val374=) n.391G>T c.197G>T c.891G>T (p.Val297=) c.957G>T (p.Val319=) c.966G>T (p.Val322=) | |
1 | g.21575858G>A | CA338881310 | ALPL | c.1123G>A (p.Val375Ile) n.392G>A c.198G>A c.892G>A (p.Val298Ile) c.958G>A (p.Val320Ile) c.967G>A (p.Val323Ile) | |
1 | g.21575858G>C | CA338881311 | ALPL | c.1123G>C (p.Val375Leu) n.392G>C c.198G>C c.892G>C (p.Val298Leu) c.958G>C (p.Val320Leu) c.967G>C (p.Val323Leu) | |
1 | g.21575858G>T | CA338881313 | ALPL | c.1123G>T (p.Val375Phe) n.392G>T c.198G>T c.892G>T (p.Val298Phe) c.958G>T (p.Val320Phe) c.967G>T (p.Val323Phe) | |
1 | g.21575859T>A | CA338881316 | ALPL | c.1124T>A (p.Val375Asp) n.393T>A c.199T>A c.893T>A (p.Val298Asp) c.959T>A (p.Val320Asp) c.968T>A (p.Val323Asp) | |
1 | g.21575859T>C | CA19070287 | ALPL | c.1124T>C (p.Val375Ala) n.393T>C c.199T>C c.893T>C (p.Val298Ala) c.959T>C (p.Val320Ala) c.968T>C (p.Val323Ala) | dbSNP |
1 | g.21575859T>G | CA338881315 | ALPL | c.1124T>G (p.Val375Gly) n.393T>G c.199T>G c.893T>G (p.Val298Gly) c.959T>G (p.Val320Gly) c.968T>G (p.Val323Gly) | |
1 | g.21575859T= | CA1158019321 | ALPL | c.1124T= (p.Val375=) n.393T= c.199T= c.893T= (p.Val298=) c.959T= (p.Val320=) c.968T= (p.Val323=) | |
1 | g.21575860C>A | CA416533318 | ALPL | c.1125C>A (p.Val375=) n.394C>A c.200C>A c.894C>A (p.Val298=) c.960C>A (p.Val320=) c.969C>A (p.Val323=) | gnomAD v4 |
1 | g.21575860C= | CA1158019322 | ALPL | c.1125C= (p.Val375=) n.394C= c.200C= c.894C= (p.Val298=) c.960C= (p.Val320=) c.969C= (p.Val323=) | |
1 | g.21575860C>G | CA19070301 | ALPL | c.1125C>G (p.Val375=) n.394C>G c.200C>G c.894C>G (p.Val298=) c.960C>G (p.Val320=) c.969C>G (p.Val323=) | dbSNP |
1 | g.21575860C>T | CA416533315 | ALPL | c.1125C>T (p.Val375=) n.394C>T c.200C>T c.894C>T (p.Val298=) c.960C>T (p.Val320=) c.969C>T (p.Val323=) | |
1 | g.21575861A>C | CA338881318 | ALPL | c.1126A>C (p.Thr376Pro) n.395A>C c.201A>C c.895A>C (p.Thr299Pro) c.961A>C (p.Thr321Pro) c.970A>C (p.Thr324Pro) | |
1 | g.21575861A>G | CA338881320 | ALPL | c.1126A>G (p.Thr376Ala) n.395A>G c.201A>G c.895A>G (p.Thr299Ala) c.961A>G (p.Thr321Ala) c.970A>G (p.Thr324Ala) | gnomAD v4 |
1 | g.21575861A>T | CA338881322 | ALPL | c.1126A>T (p.Thr376Ser) n.395A>T c.201A>T c.895A>T (p.Thr299Ser) c.961A>T (p.Thr321Ser) c.970A>T (p.Thr324Ser) | |
1 | g.21575862C>A | CA338881324 | ALPL | c.1127C>A (p.Thr376Asn) n.396C>A c.202C>A c.896C>A (p.Thr299Asn) c.962C>A (p.Thr321Asn) c.971C>A (p.Thr324Asn) | |
1 | g.21575862C>G | CA338881325 | ALPL | c.1127C>G (p.Thr376Ser) n.396C>G c.202C>G c.896C>G (p.Thr299Ser) c.962C>G (p.Thr321Ser) c.971C>G (p.Thr324Ser) | gnomAD v4 |
1 | g.21575862C>T | CA338881327 | ALPL | c.1127C>T (p.Thr376Ile) n.396C>T c.202C>T c.896C>T (p.Thr299Ile) c.962C>T (p.Thr321Ile) c.971C>T (p.Thr324Ile) | |
1 | g.21575863T>A | CA416533330 | ALPL | c.1128T>A (p.Thr376=) n.397T>A c.203T>A c.897T>A (p.Thr299=) c.963T>A (p.Thr321=) c.972T>A (p.Thr324=) | |
1 | g.21575863T>C | CA416533327 | ALPL | c.1128T>C (p.Thr376=) n.397T>C c.203T>C c.897T>C (p.Thr299=) c.963T>C (p.Thr321=) c.972T>C (p.Thr324=) | |
1 | g.21575863T>G | CA416533331 | ALPL | c.1128T>G (p.Thr376=) n.397T>G c.203T>G c.897T>G (p.Thr299=) c.963T>G (p.Thr321=) c.972T>G (p.Thr324=) | |
1 | g.21575864G>A | CA338881329 | ALPL | c.1129G>A (p.Ala377Thr) n.398G>A c.204G>A c.898G>A (p.Ala300Thr) c.964G>A (p.Ala322Thr) c.973G>A (p.Ala325Thr) | |
1 | g.21575864G>C | CA338881333 | ALPL | c.1129G>C (p.Ala377Pro) n.398G>C c.204G>C c.898G>C (p.Ala300Pro) c.964G>C (p.Ala322Pro) c.973G>C (p.Ala325Pro) | |
1 | g.21575864G>T | CA338881331 | ALPL | c.1129G>T (p.Ala377Ser) n.398G>T c.204G>T c.898G>T (p.Ala300Ser) c.964G>T (p.Ala322Ser) c.973G>T (p.Ala325Ser) | COSMIC |
1 | g.21575865C>A | CA338881334 | ALPL | c.1130C>A (p.Ala377Glu) n.399C>A c.205C>A c.899C>A (p.Ala300Glu) c.965C>A (p.Ala322Glu) c.974C>A (p.Ala325Glu) | |
1 | g.21575865C= | CA1158019323 | ALPL | c.1130C= (p.Ala377=) n.399C= c.205C= c.899C= (p.Ala300=) c.965C= (p.Ala322=) c.974C= (p.Ala325=) | |
1 | g.21575865C>G | CA338881335 | ALPL | c.1130C>G (p.Ala377Gly) n.399C>G c.205C>G c.899C>G (p.Ala300Gly) c.965C>G (p.Ala322Gly) c.974C>G (p.Ala325Gly) | |
1 | g.21575865C>T | CA666737 | ALPL | c.1130C>T (p.Ala377Val) n.399C>T c.205C>T c.899C>T (p.Ala300Val) c.965C>T (p.Ala322Val) c.974C>T (p.Ala325Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
1 | g.21575866G>A | CA666738 | ALPL | c.1131G>A (p.Ala377=) n.400G>A c.206G>A c.900G>A (p.Ala300=) c.966G>A (p.Ala322=) c.975G>A (p.Ala325=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.21575866G>C | CA416533345 | ALPL | c.1131G>C (p.Ala377=) n.400G>C c.206G>C c.900G>C (p.Ala300=) c.966G>C (p.Ala322=) c.975G>C (p.Ala325=) | |
1 | g.21575866G= | CA1158019324 | ALPL | c.1131G= (p.Ala377=) n.400G= c.206G= c.900G= (p.Ala300=) c.966G= (p.Ala322=) c.975G= (p.Ala325=) | |
1 | g.21575866G>T | CA416533343 | ALPL | c.1131G>T (p.Ala377=) n.400G>T c.206G>T c.900G>T (p.Ala300=) c.966G>T (p.Ala322=) c.975G>T (p.Ala325=) | COSMIC |
1 | g.21575867G>A | CA338881338 | ALPL | c.1132G>A (p.Asp378Asn) n.401G>A c.207G>A c.901G>A (p.Asp301Asn) c.967G>A (p.Asp323Asn) c.976G>A (p.Asp326Asn) | |
1 | g.21575867G>C | CA338881339 | ALPL | c.1132G>C (p.Asp378His) n.401G>C c.207G>C c.901G>C (p.Asp301His) c.967G>C (p.Asp323His) c.976G>C (p.Asp326His) | ClinVar dbSNP gnomAD v4 |
1 | g.21575867G= | CA1158019325 | ALPL | c.1132G= (p.Asp378=) n.401G= c.207G= c.901G= (p.Asp301=) c.967G= (p.Asp323=) c.976G= (p.Asp326=) | |
1 | g.21575867G>T | CA338881341 | ALPL | c.1132G>T (p.Asp378Tyr) n.401G>T c.207G>T c.901G>T (p.Asp301Tyr) c.967G>T (p.Asp323Tyr) c.976G>T (p.Asp326Tyr) | ClinVar |
1 | g.21575868A= | CA1141580648 | ALPL | c.1133A= (p.Asp378=) n.402A= c.208A= c.902A= (p.Asp301=) c.968A= (p.Asp323=) c.977A= (p.Asp326=) | |
1 | g.21575868A>C | CA338881343 | ALPL | c.1133A>C (p.Asp378Ala) n.402A>C c.208A>C c.902A>C (p.Asp301Ala) c.968A>C (p.Asp323Ala) c.977A>C (p.Asp326Ala) | |
1 | g.21575868A>G | CA338881345 | ALPL | c.1133A>G (p.Asp378Gly) n.402A>G c.208A>G c.902A>G (p.Asp301Gly) c.968A>G (p.Asp323Gly) c.977A>G (p.Asp326Gly) | |
1 | g.21575868A>T | CA256928 | ALPL | c.1133A>T (p.Asp378Val) n.402A>T c.208A>T c.902A>T (p.Asp301Val) c.968A>T (p.Asp323Val) c.977A>T (p.Asp326Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.21575869C>A | CA338881347 | ALPL | c.1134C>A (p.Asp378Glu) n.403C>A c.209C>A c.903C>A (p.Asp301Glu) c.969C>A (p.Asp323Glu) c.978C>A (p.Asp326Glu) | |
1 | g.21575869C>G | CA338881349 | ALPL | c.1134C>G (p.Asp378Glu) n.403C>G c.209C>G c.903C>G (p.Asp301Glu) c.969C>G (p.Asp323Glu) c.978C>G (p.Asp326Glu) | |
1 | g.21575869C>T | CA416533355 | ALPL | c.1134C>T (p.Asp378=) n.403C>T c.209C>T c.903C>T (p.Asp301=) c.969C>T (p.Asp323=) c.978C>T (p.Asp326=) | gnomAD v4 |
1 | g.21575870C>A | CA338881351 | ALPL | c.1135C>A (p.His379Asn) n.404C>A c.210C>A c.904C>A (p.His302Asn) c.970C>A (p.His324Asn) c.979C>A (p.His327Asn) | |
1 | g.21575870C>G | CA338881354 | ALPL | c.1135C>G (p.His379Asp) n.404C>G c.210C>G c.904C>G (p.His302Asp) c.970C>G (p.His324Asp) c.979C>G (p.His327Asp) | |
1 | g.21575870C>T | CA338881352 | ALPL | c.1135C>T (p.His379Tyr) n.404C>T c.210C>T c.904C>T (p.His302Tyr) c.970C>T (p.His324Tyr) c.979C>T (p.His327Tyr) | |
1 | g.21575871A>C | CA338881356 | ALPL | c.1136A>C (p.His379Pro) n.405A>C c.211A>C c.905A>C (p.His302Pro) c.971A>C (p.His324Pro) c.980A>C (p.His327Pro) | |
1 | g.21575871A>G | CA338881357 | ALPL | c.1136A>G (p.His379Arg) n.405A>G c.211A>G c.905A>G (p.His302Arg) c.971A>G (p.His324Arg) c.980A>G (p.His327Arg) | |
1 | g.21575871A>T | CA338881359 | ALPL | c.1136A>T (p.His379Leu) n.405A>T c.211A>T c.905A>T (p.His302Leu) c.971A>T (p.His324Leu) c.980A>T (p.His327Leu) |