Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
18 | g.44952372C>A | CA402323022 | SETBP1 | c.3032C>A (p.Ser1011Ter) c.3110C>A (p.Ser1037Ter) c.2555C>A (p.Ser852Ter) | gnomAD v4 COSMIC |
18 | g.44952372C= | CA2300140969 | SETBP1 | c.3032C= (p.Ser1011=) c.3110C= (p.Ser1037=) c.2555C= (p.Ser852=) | |
18 | g.44952372C>G | CA170961 | SETBP1 | c.3032C>G (p.Ser1011Ter) c.3110C>G (p.Ser1037Ter) c.2555C>G (p.Ser852Ter) | ClinVar dbSNP |
18 | g.44952372C>T | CA402323021 | SETBP1 | c.3032C>T (p.Ser1011Leu) c.3110C>T (p.Ser1037Leu) c.2555C>T (p.Ser852Leu) | |
18 | g.44952373A>C | CA503983226 | SETBP1 | c.3033A>C (p.Ser1011=) c.3111A>C (p.Ser1037=) c.2556A>C (p.Ser852=) | |
18 | g.44952373A>G | CA503983227 | SETBP1 | c.3033A>G (p.Ser1011=) c.3111A>G (p.Ser1037=) c.2556A>G (p.Ser852=) | |
18 | g.44952373A>T | CA503983228 | SETBP1 | c.3033A>T (p.Ser1011=) c.3111A>T (p.Ser1037=) c.2556A>T (p.Ser852=) | |
18 | g.44952374G>A | CA402323024 | SETBP1 | c.3034G>A (p.Asp1012Asn) c.3112G>A (p.Asp1038Asn) c.2557G>A (p.Asp853Asn) | |
18 | g.44952374G>C | CA402323026 | SETBP1 | c.3034G>C (p.Asp1012His) c.3112G>C (p.Asp1038His) c.2557G>C (p.Asp853His) | ClinVar |
18 | g.44952374G>T | CA402323027 | SETBP1 | c.3034G>T (p.Asp1012Tyr) c.3112G>T (p.Asp1038Tyr) c.2557G>T (p.Asp853Tyr) | |
18 | g.44952375A>C | CA402323028 | SETBP1 | c.3035A>C (p.Asp1012Ala) c.3113A>C (p.Asp1038Ala) c.2558A>C (p.Asp853Ala) | |
18 | g.44952375A>G | CA402323029 | SETBP1 | c.3035A>G (p.Asp1012Gly) c.3113A>G (p.Asp1038Gly) c.2558A>G (p.Asp853Gly) | gnomAD v4 |
18 | g.44952375A>T | CA402323032 | SETBP1 | c.3035A>T (p.Asp1012Val) c.3113A>T (p.Asp1038Val) c.2558A>T (p.Asp853Val) | |
18 | g.44952376C>A | CA402323034 | SETBP1 | c.3036C>A (p.Asp1012Glu) c.3114C>A (p.Asp1038Glu) c.2559C>A (p.Asp853Glu) | |
18 | g.44952376C>G | CA402323035 | SETBP1 | c.3036C>G (p.Asp1012Glu) c.3114C>G (p.Asp1038Glu) c.2559C>G (p.Asp853Glu) | |
18 | g.44952376C>T | CA503983232 | SETBP1 | c.3036C>T (p.Asp1012=) c.3114C>T (p.Asp1038=) c.2559C>T (p.Asp853=) | |
18 | g.44952377T>A | CA402323037 | SETBP1 | c.3037T>A (p.Leu1013Met) c.3115T>A (p.Leu1039Met) c.2560T>A (p.Leu854Met) | |
18 | g.44952377T>C | CA503983233 | SETBP1 | c.3037T>C (p.Leu1013=) c.3115T>C (p.Leu1039=) c.2560T>C (p.Leu854=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.44952377T>G | CA402323038 | SETBP1 | c.3037T>G (p.Leu1013Val) c.3115T>G (p.Leu1039Val) c.2560T>G (p.Leu854Val) | |
18 | g.44952377T= | CA2300140970 | SETBP1 | c.3037T= (p.Leu1013=) c.3115T= (p.Leu1039=) c.2560T= (p.Leu854=) | |
18 | g.44952378T>A | CA402323041 | SETBP1 | c.3038T>A (p.Leu1013Ter) c.3116T>A (p.Leu1039Ter) c.2561T>A (p.Leu854Ter) | |
18 | g.44952378T>C | CA402323040 | SETBP1 | c.3038T>C (p.Leu1013Ser) c.3116T>C (p.Leu1039Ser) c.2561T>C (p.Leu854Ser) | |
18 | g.44952378T>G | CA8945845 | SETBP1 | c.3038T>G (p.Leu1013Trp) c.3116T>G (p.Leu1039Trp) c.2561T>G (p.Leu854Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.44952378T= | CA2300140971 | SETBP1 | c.3038T= (p.Leu1013=) c.3116T= (p.Leu1039=) c.2561T= (p.Leu854=) | |
18 | g.44952379G>A | CA503983234 | SETBP1 | c.3039G>A (p.Leu1013=) c.3117G>A (p.Leu1039=) c.2562G>A (p.Leu854=) | |
18 | g.44952379G>C | CA402323042 | SETBP1 | c.3039G>C (p.Leu1013Phe) c.3117G>C (p.Leu1039Phe) c.2562G>C (p.Leu854Phe) | gnomAD v4 |
18 | g.44952379G>T | CA402323044 | SETBP1 | c.3039G>T (p.Leu1013Phe) c.3117G>T (p.Leu1039Phe) c.2562G>T (p.Leu854Phe) | |
18 | g.44952380A>C | CA402323045 | SETBP1 | c.3040A>C (p.Lys1014Gln) c.3118A>C (p.Lys1040Gln) c.2563A>C (p.Lys855Gln) | |
18 | g.44952380A>G | CA402323046 | SETBP1 | c.3040A>G (p.Lys1014Glu) c.3118A>G (p.Lys1040Glu) c.2563A>G (p.Lys855Glu) | |
18 | g.44952380A>T | CA402323048 | SETBP1 | c.3040A>T (p.Lys1014Ter) c.3118A>T (p.Lys1040Ter) c.2563A>T (p.Lys855Ter) | |
18 | g.44952381A>C | CA402323050 | SETBP1 | c.3041A>C (p.Lys1014Thr) c.3119A>C (p.Lys1040Thr) c.2564A>C (p.Lys855Thr) | |
18 | g.44952381A>G | CA402323052 | SETBP1 | c.3041A>G (p.Lys1014Arg) c.3119A>G (p.Lys1040Arg) c.2564A>G (p.Lys855Arg) | |
18 | g.44952381A>T | CA402323053 | SETBP1 | c.3041A>T (p.Lys1014Met) c.3119A>T (p.Lys1040Met) c.2564A>T (p.Lys855Met) | |
18 | g.44952382G>A | CA503983235 | SETBP1 | c.3042G>A (p.Lys1014=) c.3120G>A (p.Lys1040=) c.2565G>A (p.Lys855=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.44952382G>C | CA402323055 | SETBP1 | c.3042G>C (p.Lys1014Asn) c.3120G>C (p.Lys1040Asn) c.2565G>C (p.Lys855Asn) | |
18 | g.44952382G= | CA2300140972 | SETBP1 | c.3042G= (p.Lys1014=) c.3120G= (p.Lys1040=) c.2565G= (p.Lys855=) | |
18 | g.44952382G>T | CA402323056 | SETBP1 | c.3042G>T (p.Lys1014Asn) c.3120G>T (p.Lys1040Asn) c.2565G>T (p.Lys855Asn) | |
18 | g.44952383T>A | CA402323058 | SETBP1 | c.3043T>A (p.Ser1015Thr) c.3121T>A (p.Ser1041Thr) c.2566T>A (p.Ser856Thr) | |
18 | g.44952383T>C | CA402323060 | SETBP1 | c.3043T>C (p.Ser1015Pro) c.3121T>C (p.Ser1041Pro) c.2566T>C (p.Ser856Pro) | |
18 | g.44952383T>G | CA402323061 | SETBP1 | c.3043T>G (p.Ser1015Ala) c.3121T>G (p.Ser1041Ala) c.2566T>G (p.Ser856Ala) | |
18 | g.44952384C>A | CA402323066 | SETBP1 | c.3044C>A (p.Ser1015Ter) c.3122C>A (p.Ser1041Ter) c.2567C>A (p.Ser856Ter) | |
18 | g.44952384C>G | CA402323063 | SETBP1 | c.3044C>G (p.Ser1015Ter) c.3122C>G (p.Ser1041Ter) c.2567C>G (p.Ser856Ter) | |
18 | g.44952384C>T | CA402323064 | SETBP1 | c.3044C>T (p.Ser1015Leu) c.3122C>T (p.Ser1041Leu) c.2567C>T (p.Ser856Leu) | |
18 | g.44952385A>C | CA503983236 | SETBP1 | c.3045A>C (p.Ser1015=) c.3123A>C (p.Ser1041=) c.2568A>C (p.Ser856=) | |
18 | g.44952385A>G | CA503983237 | SETBP1 | c.3045A>G (p.Ser1015=) c.3123A>G (p.Ser1041=) c.2568A>G (p.Ser856=) | |
18 | g.44952385A>T | CA503983238 | SETBP1 | c.3045A>T (p.Ser1015=) c.3123A>T (p.Ser1041=) c.2568A>T (p.Ser856=) | |
18 | g.44952385_44952387del | CA2641588337 | SETBP1 | c.3045_3047del (p.Lys1016del) c.3123_3125del (p.Lys1042del) c.2568_2570del (p.Lys857del) | gnomAD v4 |
18 | g.44952385_44952388delinsAAAG | CA2300140973 | SETBP1 | c.3045_3048delinsAAAG (p.Ser1015=) c.3123_3126delinsAAAG (p.Ser1041=) c.2568_2571delinsAAAG (p.Ser856=) | |
18 | g.44952386A= | CA2300140974 | SETBP1 | c.3046A= (p.Lys1016=) c.3124A= (p.Lys1042=) c.2569A= (p.Lys857=) | |
18 | g.44952386A>C | CA402323067 | SETBP1 | c.3046A>C (p.Lys1016Gln) c.3124A>C (p.Lys1042Gln) c.2569A>C (p.Lys857Gln) | |
18 | g.44952386A>G | CA402323068 | SETBP1 | c.3046A>G (p.Lys1016Glu) c.3124A>G (p.Lys1042Glu) c.2569A>G (p.Lys857Glu) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.44952386A>T | CA402323070 | SETBP1 | c.3046A>T (p.Lys1016Ter) c.3124A>T (p.Lys1042Ter) c.2569A>T (p.Lys857Ter) | |
18 | g.44952392_44952394del | CA8945846 | SETBP1 | c.3052_3054del (p.Lys1018del) c.3130_3132del (p.Lys1044del) c.2575_2577del (p.Lys859del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.44952387A>C | CA402323071 | SETBP1 | c.3047A>C (p.Lys1016Thr) c.3125A>C (p.Lys1042Thr) c.2570A>C (p.Lys857Thr) | |
18 | g.44952387A>G | CA402323072 | SETBP1 | c.3047A>G (p.Lys1016Arg) c.3125A>G (p.Lys1042Arg) c.2570A>G (p.Lys857Arg) | |
18 | g.44952387A>T | CA402323073 | SETBP1 | c.3047A>T (p.Lys1016Met) c.3125A>T (p.Lys1042Met) c.2570A>T (p.Lys857Met) | |
18 | g.44952388G>A | CA503983239 | SETBP1 | c.3048G>A (p.Lys1016=) c.3126G>A (p.Lys1042=) c.2571G>A (p.Lys857=) | dbSNP |
18 | g.44952388G>C | CA402323074 | SETBP1 | c.3048G>C (p.Lys1016Asn) c.3126G>C (p.Lys1042Asn) c.2571G>C (p.Lys857Asn) | dbSNP gnomAD v4 |
18 | g.44952388G= | CA2300140975 | SETBP1 | c.3048G= (p.Lys1016=) c.3126G= (p.Lys1042=) c.2571G= (p.Lys857=) | |
18 | g.44952388G>T | CA402323075 | SETBP1 | c.3048G>T (p.Lys1016Asn) c.3126G>T (p.Lys1042Asn) c.2571G>T (p.Lys857Asn) | |
18 | g.44952389A>C | CA402323076 | SETBP1 | c.3049A>C (p.Lys1017Gln) c.3127A>C (p.Lys1043Gln) c.2572A>C (p.Lys858Gln) | |
18 | g.44952389A>G | CA402323077 | SETBP1 | c.3049A>G (p.Lys1017Glu) c.3127A>G (p.Lys1043Glu) c.2572A>G (p.Lys858Glu) | |
18 | g.44952389A>T | CA402323078 | SETBP1 | c.3049A>T (p.Lys1017Ter) c.3127A>T (p.Lys1043Ter) c.2572A>T (p.Lys858Ter) | |
18 | g.44952390A>C | CA402323083 | SETBP1 | c.3050A>C (p.Lys1017Thr) c.3128A>C (p.Lys1043Thr) c.2573A>C (p.Lys858Thr) | |
18 | g.44952390A>G | CA402323085 | SETBP1 | c.3050A>G (p.Lys1017Arg) c.3128A>G (p.Lys1043Arg) c.2573A>G (p.Lys858Arg) | |
18 | g.44952390A>T | CA402323080 | SETBP1 | c.3050A>T (p.Lys1017Met) c.3128A>T (p.Lys1043Met) c.2573A>T (p.Lys858Met) | |
18 | g.44952391G>A | CA503983240 | SETBP1 | c.3051G>A (p.Lys1017=) c.3129G>A (p.Lys1043=) c.2574G>A (p.Lys858=) | |
18 | g.44952391G>C | CA402323088 | SETBP1 | c.3051G>C (p.Lys1017Asn) c.3129G>C (p.Lys1043Asn) c.2574G>C (p.Lys858Asn) | |
18 | g.44952391G>T | CA402323087 | SETBP1 | c.3051G>T (p.Lys1017Asn) c.3129G>T (p.Lys1043Asn) c.2574G>T (p.Lys858Asn) | |
18 | g.44952392A= | CA2300140976 | SETBP1 | c.3052A= (p.Lys1018=) c.3130A= (p.Lys1044=) c.2575A= (p.Lys859=) | |
18 | g.44952392A>C | CA402323089 | SETBP1 | c.3052A>C (p.Lys1018Gln) c.3130A>C (p.Lys1044Gln) c.2575A>C (p.Lys859Gln) | ClinVar dbSNP |
18 | g.44952392A>G | CA402323090 | SETBP1 | c.3052A>G (p.Lys1018Glu) c.3130A>G (p.Lys1044Glu) c.2575A>G (p.Lys859Glu) | dbSNP |
18 | g.44952392A>T | CA402323092 | SETBP1 | c.3052A>T (p.Lys1018Ter) c.3130A>T (p.Lys1044Ter) c.2575A>T (p.Lys859Ter) | |
18 | g.44952393A= | CA2300140977 | SETBP1 | c.3053A= (p.Lys1018=) c.3131A= (p.Lys1044=) c.2576A= (p.Lys859=) | |
18 | g.44952393A>C | CA402323093 | SETBP1 | c.3053A>C (p.Lys1018Thr) c.3131A>C (p.Lys1044Thr) c.2576A>C (p.Lys859Thr) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.44952393A>G | CA299699094 | SETBP1 | c.3053A>G (p.Lys1018Arg) c.3131A>G (p.Lys1044Arg) c.2576A>G (p.Lys859Arg) | dbSNP gnomAD v4 |
18 | g.44952393A>T | CA402323094 | SETBP1 | c.3053A>T (p.Lys1018Met) c.3131A>T (p.Lys1044Met) c.2576A>T (p.Lys859Met) | |
18 | g.44952394G>A | CA503983241 | SETBP1 | c.3054G>A (p.Lys1018=) c.3132G>A (p.Lys1044=) c.2577G>A (p.Lys859=) | gnomAD v4 |
18 | g.44952394G>C | CA402323097 | SETBP1 | c.3054G>C (p.Lys1018Asn) c.3132G>C (p.Lys1044Asn) c.2577G>C (p.Lys859Asn) | |
18 | g.44952394G>T | CA402323096 | SETBP1 | c.3054G>T (p.Lys1018Asn) c.3132G>T (p.Lys1044Asn) c.2577G>T (p.Lys859Asn) | |
18 | g.44952395C>A | CA402323098 | SETBP1 | c.3055C>A (p.Arg1019Ser) c.3133C>A (p.Arg1045Ser) c.2578C>A (p.Arg860Ser) | |
18 | g.44952395C= | CA2300140978 | SETBP1 | c.3055C= (p.Arg1019=) c.3133C= (p.Arg1045=) c.2578C= (p.Arg860=) | |
18 | g.44952395C>G | CA402323099 | SETBP1 | c.3055C>G (p.Arg1019Gly) c.3133C>G (p.Arg1045Gly) c.2578C>G (p.Arg860Gly) | |
18 | g.44952395C>T | CA8945847 | SETBP1 | c.3055C>T (p.Arg1019Cys) c.3133C>T (p.Arg1045Cys) c.2578C>T (p.Arg860Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.44952396G>A | CA8945848 | SETBP1 | c.3056G>A (p.Arg1019His) c.3134G>A (p.Arg1045His) c.2579G>A (p.Arg860His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
18 | g.44952396G>C | CA402323100 | SETBP1 | c.3056G>C (p.Arg1019Pro) c.3134G>C (p.Arg1045Pro) c.2579G>C (p.Arg860Pro) | |
18 | g.44952396G= | CA2300140979 | SETBP1 | c.3056G= (p.Arg1019=) c.3134G= (p.Arg1045=) c.2579G= (p.Arg860=) | |
18 | g.44952396G>T | CA402323102 | SETBP1 | c.3056G>T (p.Arg1019Leu) c.3134G>T (p.Arg1045Leu) c.2579G>T (p.Arg860Leu) | |
18 | g.44952397T>A | CA503983242 | SETBP1 | c.3057T>A (p.Arg1019=) c.3135T>A (p.Arg1045=) c.2580T>A (p.Arg860=) | |
18 | g.44952397T>C | CA503983243 | SETBP1 | c.3057T>C (p.Arg1019=) c.3135T>C (p.Arg1045=) c.2580T>C (p.Arg860=) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.44952397T>G | CA503983244 | SETBP1 | c.3057T>G (p.Arg1019=) c.3135T>G (p.Arg1045=) c.2580T>G (p.Arg860=) | |
18 | g.44952397T= | CA2300140980 | SETBP1 | c.3057T= (p.Arg1019=) c.3135T= (p.Arg1045=) c.2580T= (p.Arg860=) | |
18 | g.44952398G>A | CA402323104 | SETBP1 | c.3058G>A (p.Gly1020Ser) c.3136G>A (p.Gly1046Ser) c.2581G>A (p.Gly861Ser) | |
18 | g.44952398G>C | CA402323106 | SETBP1 | c.3058G>C (p.Gly1020Arg) c.3136G>C (p.Gly1046Arg) c.2581G>C (p.Gly861Arg) | |
18 | g.44952398G>T | CA402323105 | SETBP1 | c.3058G>T (p.Gly1020Cys) c.3136G>T (p.Gly1046Cys) c.2581G>T (p.Gly861Cys) | |
18 | g.44952399G>A | CA402323107 | SETBP1 | c.3059G>A (p.Gly1020Asp) c.3137G>A (p.Gly1046Asp) c.2582G>A (p.Gly861Asp) | |
18 | g.44952399G>C | CA402323108 | SETBP1 | c.3059G>C (p.Gly1020Ala) c.3137G>C (p.Gly1046Ala) c.2582G>C (p.Gly861Ala) | |
18 | g.44952399G>T | CA402323109 | SETBP1 | c.3059G>T (p.Gly1020Val) c.3137G>T (p.Gly1046Val) c.2582G>T (p.Gly861Val) | ClinVar |
18 | g.44952400T>A | CA503983245 | SETBP1 | c.3060T>A (p.Gly1020=) c.3138T>A (p.Gly1046=) c.2583T>A (p.Gly861=) | |
18 | g.44952400T>C | CA503983247 | SETBP1 | c.3060T>C (p.Gly1020=) c.3138T>C (p.Gly1046=) c.2583T>C (p.Gly861=) | dbSNP |
18 | g.44952400T>G | CA503983246 | SETBP1 | c.3060T>G (p.Gly1020=) c.3138T>G (p.Gly1046=) c.2583T>G (p.Gly861=) | |
18 | g.44952401A>C | CA503983248 | SETBP1 | c.3061A>C (p.Arg1021=) c.3139A>C (p.Arg1047=) c.2584A>C (p.Arg862=) | |
18 | g.44952401A>G | CA402323110 | SETBP1 | c.3061A>G (p.Arg1021Gly) c.3139A>G (p.Arg1047Gly) c.2584A>G (p.Arg862Gly) | |
18 | g.44952401A>T | CA402323111 | SETBP1 | c.3061A>T (p.Arg1021Trp) c.3139A>T (p.Arg1047Trp) c.2584A>T (p.Arg862Trp) | |
18 | g.44952402G>A | CA402323112 | SETBP1 | c.3062G>A (p.Arg1021Lys) c.3140G>A (p.Arg1047Lys) c.2585G>A (p.Arg862Lys) | |
18 | g.44952402G>C | CA402323113 | SETBP1 | c.3062G>C (p.Arg1021Thr) c.3140G>C (p.Arg1047Thr) c.2585G>C (p.Arg862Thr) | |
18 | g.44952402G>T | CA402323114 | SETBP1 | c.3062G>T (p.Arg1021Met) c.3140G>T (p.Arg1047Met) c.2585G>T (p.Arg862Met) | COSMIC |
18 | g.44952403G>A | CA8945849 | SETBP1 | c.3063G>A (p.Arg1021=) c.3141G>A (p.Arg1047=) c.2586G>A (p.Arg862=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.44952403G>C | CA402323115 | SETBP1 | c.3063G>C (p.Arg1021Ser) c.3141G>C (p.Arg1047Ser) c.2586G>C (p.Arg862Ser) | |
18 | g.44952403G= | CA2300140981 | SETBP1 | c.3063G= (p.Arg1021=) c.3141G= (p.Arg1047=) c.2586G= (p.Arg862=) | |
18 | g.44952403G>T | CA402323116 | SETBP1 | c.3063G>T (p.Arg1021Ser) c.3141G>T (p.Arg1047Ser) c.2586G>T (p.Arg862Ser) | |
18 | g.44952404C>A | CA402323117 | SETBP1 | c.3064C>A (p.Pro1022Thr) c.3142C>A (p.Pro1048Thr) c.2587C>A (p.Pro863Thr) | |
18 | g.44952404C>G | CA402323119 | SETBP1 | c.3064C>G (p.Pro1022Ala) c.3142C>G (p.Pro1048Ala) c.2587C>G (p.Pro863Ala) | |
18 | g.44952404C>T | CA402323118 | SETBP1 | c.3064C>T (p.Pro1022Ser) c.3142C>T (p.Pro1048Ser) c.2587C>T (p.Pro863Ser) | |
18 | g.44952405C>A | CA402323120 | SETBP1 | c.3065C>A (p.Pro1022His) c.3143C>A (p.Pro1048His) c.2588C>A (p.Pro863His) | |
18 | g.44952405C= | CA2300140982 | SETBP1 | c.3065C= (p.Pro1022=) c.3143C= (p.Pro1048=) c.2588C= (p.Pro863=) | |
18 | g.44952405C>G | CA402323121 | SETBP1 | c.3065C>G (p.Pro1022Arg) c.3143C>G (p.Pro1048Arg) c.2588C>G (p.Pro863Arg) | gnomAD v4 |
18 | g.44952405C>T | CA402323122 | SETBP1 | c.3065C>T (p.Pro1022Leu) c.3143C>T (p.Pro1048Leu) c.2588C>T (p.Pro863Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
18 | g.44952406T>A | CA503982434 | SETBP1 | c.3066T>A (p.Pro1022=) c.3144T>A (p.Pro1048=) c.2589T>A (p.Pro863=) | gnomAD v4 |
18 | g.44952406T>C | CA503982436 | SETBP1 | c.3066T>C (p.Pro1022=) c.3144T>C (p.Pro1048=) c.2589T>C (p.Pro863=) | |
18 | g.44952406T>G | CA503982435 | SETBP1 | c.3066T>G (p.Pro1022=) c.3144T>G (p.Pro1048=) c.2589T>G (p.Pro863=) | COSMIC |
18 | g.44952407G>A | CA402323326 | SETBP1 | c.3067G>A (p.Ala1023Thr) c.3145G>A (p.Ala1049Thr) c.2590G>A (p.Ala864Thr) | |
18 | g.44952407G>C | CA402323328 | SETBP1 | c.3067G>C (p.Ala1023Pro) c.3145G>C (p.Ala1049Pro) c.2590G>C (p.Ala864Pro) | |
18 | g.44952407G>T | CA402323330 | SETBP1 | c.3067G>T (p.Ala1023Ser) c.3145G>T (p.Ala1049Ser) c.2590G>T (p.Ala864Ser) | gnomAD v4 |
18 | g.44952408C>A | CA402323332 | SETBP1 | c.3068C>A (p.Ala1023Glu) c.3146C>A (p.Ala1049Glu) c.2591C>A (p.Ala864Glu) | gnomAD v4 |
18 | g.44952408C>G | CA402323335 | SETBP1 | c.3068C>G (p.Ala1023Gly) c.3146C>G (p.Ala1049Gly) c.2591C>G (p.Ala864Gly) | |
18 | g.44952408C>T | CA402323336 | SETBP1 | c.3068C>T (p.Ala1023Val) c.3146C>T (p.Ala1049Val) c.2591C>T (p.Ala864Val) | |
18 | g.44952409A>C | CA503982437 | SETBP1 | c.3069A>C (p.Ala1023=) c.3147A>C (p.Ala1049=) c.2592A>C (p.Ala864=) | gnomAD v4 |
18 | g.44952409A>G | CA503982438 | SETBP1 | c.3069A>G (p.Ala1023=) c.3147A>G (p.Ala1049=) c.2592A>G (p.Ala864=) | |
18 | g.44952409A>T | CA503982439 | SETBP1 | c.3069A>T (p.Ala1023=) c.3147A>T (p.Ala1049=) c.2592A>T (p.Ala864=) | |
18 | g.44952410A>C | CA402323337 | SETBP1 | c.3070A>C (p.Lys1024Gln) c.3148A>C (p.Lys1050Gln) c.2593A>C (p.Lys865Gln) | |
18 | g.44952410A>G | CA402323338 | SETBP1 | c.3070A>G (p.Lys1024Glu) c.3148A>G (p.Lys1050Glu) c.2593A>G (p.Lys865Glu) | |
18 | g.44952410A>T | CA402323340 | SETBP1 | c.3070A>T (p.Lys1024Ter) c.3148A>T (p.Lys1050Ter) c.2593A>T (p.Lys865Ter) | |
18 | g.44952411A>C | CA402323344 | SETBP1 | c.3071A>C (p.Lys1024Thr) c.3149A>C (p.Lys1050Thr) c.2594A>C (p.Lys865Thr) | |
18 | g.44952411A>G | CA402323341 | SETBP1 | c.3071A>G (p.Lys1024Arg) c.3149A>G (p.Lys1050Arg) c.2594A>G (p.Lys865Arg) | |
18 | g.44952411A>T | CA402323343 | SETBP1 | c.3071A>T (p.Lys1024Ile) c.3149A>T (p.Lys1050Ile) c.2594A>T (p.Lys865Ile) | COSMIC |
18 | g.44952412A>C | CA402323345 | SETBP1 | c.3072A>C (p.Lys1024Asn) c.3150A>C (p.Lys1050Asn) c.2595A>C (p.Lys865Asn) | |
18 | g.44952412A>G | CA503982440 | SETBP1 | c.3072A>G (p.Lys1024=) c.3150A>G (p.Lys1050=) c.2595A>G (p.Lys865=) | |
18 | g.44952412A>T | CA402323346 | SETBP1 | c.3072A>T (p.Lys1024Asn) c.3150A>T (p.Lys1050Asn) c.2595A>T (p.Lys865Asn) | |
18 | g.44952413A>C | CA402323348 | SETBP1 | c.3073A>C (p.Thr1025Pro) c.3151A>C (p.Thr1051Pro) c.2596A>C (p.Thr866Pro) | |
18 | g.44952413A>G | CA402323350 | SETBP1 | c.3073A>G (p.Thr1025Ala) c.3151A>G (p.Thr1051Ala) c.2596A>G (p.Thr866Ala) | |
18 | g.44952413A>T | CA402323351 | SETBP1 | c.3073A>T (p.Thr1025Ser) c.3151A>T (p.Thr1051Ser) c.2596A>T (p.Thr866Ser) | |
18 | g.44952414C>A | CA402323353 | SETBP1 | c.3074C>A (p.Thr1025Asn) c.3152C>A (p.Thr1051Asn) c.2597C>A (p.Thr866Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.44952414C= | CA2300140983 | SETBP1 | c.3074C= (p.Thr1025=) c.3152C= (p.Thr1051=) c.2597C= (p.Thr866=) | |
18 | g.44952414C>G | CA402323354 | SETBP1 | c.3074C>G (p.Thr1025Ser) c.3152C>G (p.Thr1051Ser) c.2597C>G (p.Thr866Ser) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.44952414C>T | CA402323355 | SETBP1 | c.3074C>T (p.Thr1025Ile) c.3152C>T (p.Thr1051Ile) c.2597C>T (p.Thr866Ile) | dbSNP |
18 | g.44952415C>A | CA503982443 | SETBP1 | c.3075C>A (p.Thr1025=) c.3153C>A (p.Thr1051=) c.2598C>A (p.Thr866=) | |
18 | g.44952415C= | CA2300140984 | SETBP1 | c.3075C= (p.Thr1025=) c.3153C= (p.Thr1051=) c.2598C= (p.Thr866=) | |
18 | g.44952415C>G | CA503982441 | SETBP1 | c.3075C>G (p.Thr1025=) c.3153C>G (p.Thr1051=) c.2598C>G (p.Thr866=) | |
18 | g.44952415C>T | CA503982442 | SETBP1 | c.3075C>T (p.Thr1025=) c.3153C>T (p.Thr1051=) c.2598C>T (p.Thr866=) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.44952416A>C | CA402323358 | SETBP1 | c.3076A>C (p.Asn1026His) c.3154A>C (p.Asn1052His) c.2599A>C (p.Asn867His) | |
18 | g.44952416A>G | CA402323359 | SETBP1 | c.3076A>G (p.Asn1026Asp) c.3154A>G (p.Asn1052Asp) c.2599A>G (p.Asn867Asp) | |
18 | g.44952416A>T | CA402323361 | SETBP1 | c.3076A>T (p.Asn1026Tyr) c.3154A>T (p.Asn1052Tyr) c.2599A>T (p.Asn867Tyr) | |
18 | g.44952416_44952417insCACCAAACACACCC | CA2812320071 | SETBP1 | c.3076_3077insCACCAAACACACCC (p.Asn1026ThrfsTer9) c.3154_3155insCACCAAACACACCC (p.Asn1052ThrfsTer9) c.2599_2600insCACCAAACACACCC (p.Asn867ThrfsTer9) | |
18 | g.44952417A>C | CA402323363 | SETBP1 | c.3077A>C (p.Asn1026Thr) c.3155A>C (p.Asn1052Thr) c.2600A>C (p.Asn867Thr) | |
18 | g.44952417A>G | CA402323364 | SETBP1 | c.3077A>G (p.Asn1026Ser) c.3155A>G (p.Asn1052Ser) c.2600A>G (p.Asn867Ser) | |
18 | g.44952417A>T | CA402323362 | SETBP1 | c.3077A>T (p.Asn1026Ile) c.3155A>T (p.Asn1052Ile) c.2600A>T (p.Asn867Ile) | |
18 | g.44952418T>A | CA402323367 | SETBP1 | c.3078T>A (p.Asn1026Lys) c.3156T>A (p.Asn1052Lys) c.2601T>A (p.Asn867Lys) | |
18 | g.44952418T>C | CA503982444 | SETBP1 | c.3078T>C (p.Asn1026=) c.3156T>C (p.Asn1052=) c.2601T>C (p.Asn867=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
18 | g.44952418T>G | CA402323366 | SETBP1 | c.3078T>G (p.Asn1026Lys) c.3156T>G (p.Asn1052Lys) c.2601T>G (p.Asn867Lys) | |
18 | g.44952418T= | CA2300140985 | SETBP1 | c.3078T= (p.Asn1026=) c.3156T= (p.Asn1052=) c.2601T= (p.Asn867=) | |
18 | g.44952419G>A | CA402323369 | SETBP1 | c.3079G>A (p.Asp1027Asn) c.3157G>A (p.Asp1053Asn) c.2602G>A (p.Asp868Asn) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.44952419G>C | CA402323371 | SETBP1 | c.3079G>C (p.Asp1027His) c.3157G>C (p.Asp1053His) c.2602G>C (p.Asp868His) | ClinVar dbSNP |
18 | g.44952419G= | CA2300140986 | SETBP1 | c.3079G= (p.Asp1027=) c.3157G= (p.Asp1053=) c.2602G= (p.Asp868=) | |
18 | g.44952419G>T | CA402323372 | SETBP1 | c.3079G>T (p.Asp1027Tyr) c.3157G>T (p.Asp1053Tyr) c.2602G>T (p.Asp868Tyr) | |
18 | g.44952420A= | CA2300140987 | SETBP1 | c.3080A= (p.Asp1027=) c.3158A= (p.Asp1053=) c.2603A= (p.Asp868=) | |
18 | g.44952420A>C | CA402323374 | SETBP1 | c.3080A>C (p.Asp1027Ala) c.3158A>C (p.Asp1053Ala) c.2603A>C (p.Asp868Ala) | |
18 | g.44952420A>G | CA402323375 | SETBP1 | c.3080A>G (p.Asp1027Gly) c.3158A>G (p.Asp1053Gly) c.2603A>G (p.Asp868Gly) | |
18 | g.44952420A>T | CA402323377 | SETBP1 | c.3080A>T (p.Asp1027Val) c.3158A>T (p.Asp1053Val) c.2603A>T (p.Asp868Val) | dbSNP |
18 | g.44952421C>A | CA402323378 | SETBP1 | c.3081C>A (p.Asp1027Glu) c.3159C>A (p.Asp1053Glu) c.2604C>A (p.Asp868Glu) | |
18 | g.44952421C>G | CA402323380 | SETBP1 | c.3081C>G (p.Asp1027Glu) c.3159C>G (p.Asp1053Glu) c.2604C>G (p.Asp868Glu) | |
18 | g.44952421C>T | CA503982445 | SETBP1 | c.3081C>T (p.Asp1027=) c.3159C>T (p.Asp1053=) c.2604C>T (p.Asp868=) | COSMIC |
18 | g.44952422A>C | CA402323382 | SETBP1 | c.3082A>C (p.Thr1028Pro) c.3160A>C (p.Thr1054Pro) c.2605A>C (p.Thr869Pro) | |
18 | g.44952422A>G | CA402323383 | SETBP1 | c.3082A>G (p.Thr1028Ala) c.3160A>G (p.Thr1054Ala) c.2605A>G (p.Thr869Ala) | |
18 | g.44952422A>T | CA402323385 | SETBP1 | c.3082A>T (p.Thr1028Ser) c.3160A>T (p.Thr1054Ser) c.2605A>T (p.Thr869Ser) | gnomAD v4 |
18 | g.44952423C>A | CA402323389 | SETBP1 | c.3083C>A (p.Thr1028Asn) c.3161C>A (p.Thr1054Asn) c.2606C>A (p.Thr869Asn) | |
18 | g.44952423C= | CA2300140988 | SETBP1 | c.3083C= (p.Thr1028=) c.3161C= (p.Thr1054=) c.2606C= (p.Thr869=) | |
18 | g.44952423C>G | CA8945850 | SETBP1 | c.3083C>G (p.Thr1028Ser) c.3161C>G (p.Thr1054Ser) c.2606C>G (p.Thr869Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.44952423C>T | CA402323387 | SETBP1 | c.3083C>T (p.Thr1028Ile) c.3161C>T (p.Thr1054Ile) c.2606C>T (p.Thr869Ile) | |
18 | g.44952424C>A | CA503982446 | SETBP1 | c.3084C>A (p.Thr1028=) c.3162C>A (p.Thr1054=) c.2607C>A (p.Thr869=) | |
18 | g.44952424C>G | CA503982447 | SETBP1 | c.3084C>G (p.Thr1028=) c.3162C>G (p.Thr1054=) c.2607C>G (p.Thr869=) | |
18 | g.44952424C>T | CA503982448 | SETBP1 | c.3084C>T (p.Thr1028=) c.3162C>T (p.Thr1054=) c.2607C>T (p.Thr869=) | |
18 | g.44952425A= | CA2300140989 | SETBP1 | c.3085A= (p.Met1029=) c.3163A= (p.Met1055=) c.2608A= (p.Met870=) | |
18 | g.44952425A>C | CA402323390 | SETBP1 | c.3085A>C (p.Met1029Leu) c.3163A>C (p.Met1055Leu) c.2608A>C (p.Met870Leu) | |
18 | g.44952425A>G | CA8945851 | SETBP1 | c.3085A>G (p.Met1029Val) c.3163A>G (p.Met1055Val) c.2608A>G (p.Met870Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.44952425A>T | CA402323392 | SETBP1 | c.3085A>T (p.Met1029Leu) c.3163A>T (p.Met1055Leu) c.2608A>T (p.Met870Leu) | |
18 | g.44952426T>A | CA402323394 | SETBP1 | c.3086T>A (p.Met1029Lys) c.3164T>A (p.Met1055Lys) c.2609T>A (p.Met870Lys) | |
18 | g.44952426T>C | CA402323396 | SETBP1 | c.3086T>C (p.Met1029Thr) c.3164T>C (p.Met1055Thr) c.2609T>C (p.Met870Thr) | gnomAD v4 |
18 | g.44952426T>G | CA402323398 | SETBP1 | c.3086T>G (p.Met1029Arg) c.3164T>G (p.Met1055Arg) c.2609T>G (p.Met870Arg) | |
18 | g.44952427G>A | CA8945852 | SETBP1 | c.3087G>A (p.Met1029Ile) c.3165G>A (p.Met1055Ile) c.2610G>A (p.Met870Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.44952427G>C | CA402323399 | SETBP1 | c.3087G>C (p.Met1029Ile) c.3165G>C (p.Met1055Ile) c.2610G>C (p.Met870Ile) | |
18 | g.44952427G= | CA2300140990 | SETBP1 | c.3087G= (p.Met1029=) c.3165G= (p.Met1055=) c.2610G= (p.Met870=) | |
18 | g.44952427G>T | CA402323400 | SETBP1 | c.3087G>T (p.Met1029Ile) c.3165G>T (p.Met1055Ile) c.2610G>T (p.Met870Ile) | |
18 | g.44952428A>C | CA402323402 | SETBP1 | c.3088A>C (p.Thr1030Pro) c.3166A>C (p.Thr1056Pro) c.2611A>C (p.Thr871Pro) | |
18 | g.44952428A>G | CA402323403 | SETBP1 | c.3088A>G (p.Thr1030Ala) c.3166A>G (p.Thr1056Ala) c.2611A>G (p.Thr871Ala) | gnomAD v4 |
18 | g.44952428A>T | CA402323404 | SETBP1 | c.3088A>T (p.Thr1030Ser) c.3166A>T (p.Thr1056Ser) c.2611A>T (p.Thr871Ser) | |
18 | g.44952429C>A | CA402323408 | SETBP1 | c.3089C>A (p.Thr1030Lys) c.3167C>A (p.Thr1056Lys) c.2612C>A (p.Thr871Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.44952429C= | CA2300140991 | SETBP1 | c.3089C= (p.Thr1030=) c.3167C= (p.Thr1056=) c.2612C= (p.Thr871=) | |
18 | g.44952429C>G | CA402323409 | SETBP1 | c.3089C>G (p.Thr1030Arg) c.3167C>G (p.Thr1056Arg) c.2612C>G (p.Thr871Arg) | |
18 | g.44952429C>T | CA402323406 | SETBP1 | c.3089C>T (p.Thr1030Ile) c.3167C>T (p.Thr1056Ile) c.2612C>T (p.Thr871Ile) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.44952430A>C | CA503982450 | SETBP1 | c.3090A>C (p.Thr1030=) c.3168A>C (p.Thr1056=) c.2613A>C (p.Thr871=) | |
18 | g.44952430A>G | CA503982451 | SETBP1 | c.3090A>G (p.Thr1030=) c.3168A>G (p.Thr1056=) c.2613A>G (p.Thr871=) | |
18 | g.44952430A>T | CA503982449 | SETBP1 | c.3090A>T (p.Thr1030=) c.3168A>T (p.Thr1056=) c.2613A>T (p.Thr871=) | |
18 | g.44952431A>C | CA402323411 | SETBP1 | c.3091A>C (p.Lys1031Gln) c.3169A>C (p.Lys1057Gln) c.2614A>C (p.Lys872Gln) | |
18 | g.44952431A>G | CA402323412 | SETBP1 | c.3091A>G (p.Lys1031Glu) c.3169A>G (p.Lys1057Glu) c.2614A>G (p.Lys872Glu) | ClinVar gnomAD v4 |
18 | g.44952431A>T | CA402323414 | SETBP1 | c.3091A>T (p.Lys1031Ter) c.3169A>T (p.Lys1057Ter) c.2614A>T (p.Lys872Ter) | |
18 | g.44952432A>C | CA402323416 | SETBP1 | c.3092A>C (p.Lys1031Thr) c.3170A>C (p.Lys1057Thr) c.2615A>C (p.Lys872Thr) | |
18 | g.44952432A>G | CA402323417 | SETBP1 | c.3092A>G (p.Lys1031Arg) c.3170A>G (p.Lys1057Arg) c.2615A>G (p.Lys872Arg) | |
18 | g.44952432A>T | CA402323419 | SETBP1 | c.3092A>T (p.Lys1031Met) c.3170A>T (p.Lys1057Met) c.2615A>T (p.Lys872Met) | |
18 | g.44952433G>A | CA503982452 | SETBP1 | c.3093G>A (p.Lys1031=) c.3171G>A (p.Lys1057=) c.2616G>A (p.Lys872=) | gnomAD v4 |
18 | g.44952433G>C | CA402323422 | SETBP1 | c.3093G>C (p.Lys1031Asn) c.3171G>C (p.Lys1057Asn) c.2616G>C (p.Lys872Asn) | |
18 | g.44952433G= | CA2300140992 | SETBP1 | c.3093G= (p.Lys1031=) c.3171G= (p.Lys1057=) c.2616G= (p.Lys872=) | |
18 | g.44952433G>T | CA402323421 | SETBP1 | c.3093G>T (p.Lys1031Asn) c.3171G>T (p.Lys1057Asn) c.2616G>T (p.Lys872Asn) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.44952434G>A | CA8945853 | SETBP1 | c.3094G>A (p.Val1032Met) c.3172G>A (p.Val1058Met) c.2617G>A (p.Val873Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.44952434G>C | CA402323423 | SETBP1 | c.3094G>C (p.Val1032Leu) c.3172G>C (p.Val1058Leu) c.2617G>C (p.Val873Leu) | |
18 | g.44952434G= | CA2300140993 | SETBP1 | c.3094G= (p.Val1032=) c.3172G= (p.Val1058=) c.2617G= (p.Val873=) | |
18 | g.44952434G>T | CA402323425 | SETBP1 | c.3094G>T (p.Val1032Leu) c.3172G>T (p.Val1058Leu) c.2617G>T (p.Val873Leu) | |
18 | g.44952435T>A | CA402323427 | SETBP1 | c.3095T>A (p.Val1032Glu) c.3173T>A (p.Val1058Glu) c.2618T>A (p.Val873Glu) | |
18 | g.44952435T>C | CA402323428 | SETBP1 | c.3095T>C (p.Val1032Ala) c.3173T>C (p.Val1058Ala) c.2618T>C (p.Val873Ala) | |
18 | g.44952435T>G | CA402323430 | SETBP1 | c.3095T>G (p.Val1032Gly) c.3173T>G (p.Val1058Gly) c.2618T>G (p.Val873Gly) | |
18 | g.44952436G>A | CA503982453 | SETBP1 | c.3096G>A (p.Val1032=) c.3174G>A (p.Val1058=) c.2619G>A (p.Val873=) | |
18 | g.44952436G>C | CA8945854 | SETBP1 | c.3096G>C (p.Val1032=) c.3174G>C (p.Val1058=) c.2619G>C (p.Val873=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.44952436G= | CA2300140994 | SETBP1 | c.3096G= (p.Val1032=) c.3174G= (p.Val1058=) c.2619G= (p.Val873=) | |
18 | g.44952436G>T | CA503982454 | SETBP1 | c.3096G>T (p.Val1032=) c.3174G>T (p.Val1058=) c.2619G>T (p.Val873=) | ClinVar dbSNP |
18 | g.44952437C>A | CA402323432 | SETBP1 | c.3097C>A (p.Pro1033Thr) c.3175C>A (p.Pro1059Thr) c.2620C>A (p.Pro874Thr) | |
18 | g.44952437C>G | CA402323435 | SETBP1 | c.3097C>G (p.Pro1033Ala) c.3175C>G (p.Pro1059Ala) c.2620C>G (p.Pro874Ala) | |
18 | g.44952437C>T | CA402323434 | SETBP1 | c.3097C>T (p.Pro1033Ser) c.3175C>T (p.Pro1059Ser) c.2620C>T (p.Pro874Ser) | gnomAD v4 |
18 | g.44952438C>A | CA402323437 | SETBP1 | c.3098C>A (p.Pro1033His) c.3176C>A (p.Pro1059His) c.2621C>A (p.Pro874His) | |
18 | g.44952438C>G | CA402323439 | SETBP1 | c.3098C>G (p.Pro1033Arg) c.3176C>G (p.Pro1059Arg) c.2621C>G (p.Pro874Arg) | |
18 | g.44952438C>T | CA402323440 | SETBP1 | c.3098C>T (p.Pro1033Leu) c.3176C>T (p.Pro1059Leu) c.2621C>T (p.Pro874Leu) | |
18 | g.44952439T>A | CA503982455 | SETBP1 | c.3099T>A (p.Pro1033=) c.3177T>A (p.Pro1059=) c.2622T>A (p.Pro874=) | |
18 | g.44952439T>C | CA503982456 | SETBP1 | c.3099T>C (p.Pro1033=) c.3177T>C (p.Pro1059=) c.2622T>C (p.Pro874=) | |
18 | g.44952439T>G | CA503982457 | SETBP1 | c.3099T>G (p.Pro1033=) c.3177T>G (p.Pro1059=) c.2622T>G (p.Pro874=) | |
18 | g.44952444del | CA503982458 | SETBP1 | c.3104del (p.Leu1035TyrfsTer26) c.3182del (p.Leu1061TyrfsTer26) c.2627del (p.Leu876TyrfsTer26) | COSMIC |
18 | g.44952440T>A | CA402323442 | SETBP1 | c.3100T>A (p.Phe1034Ile) c.3178T>A (p.Phe1060Ile) c.2623T>A (p.Phe875Ile) | |
18 | g.44952440T>C | CA402323443 | SETBP1 | c.3100T>C (p.Phe1034Leu) c.3178T>C (p.Phe1060Leu) c.2623T>C (p.Phe875Leu) | |
18 | g.44952440T>G | CA402323444 | SETBP1 | c.3100T>G (p.Phe1034Val) c.3178T>G (p.Phe1060Val) c.2623T>G (p.Phe875Val) | |
18 | g.44952441T>A | CA402323446 | SETBP1 | c.3101T>A (p.Phe1034Tyr) c.3179T>A (p.Phe1060Tyr) c.2624T>A (p.Phe875Tyr) | |
18 | g.44952441T>C | CA402323448 | SETBP1 | c.3101T>C (p.Phe1034Ser) c.3179T>C (p.Phe1060Ser) c.2624T>C (p.Phe875Ser) | |
18 | g.44952441T>G | CA402323450 | SETBP1 | c.3101T>G (p.Phe1034Cys) c.3179T>G (p.Phe1060Cys) c.2624T>G (p.Phe875Cys) | |
18 | g.44952442T>A | CA402323451 | SETBP1 | c.3102T>A (p.Phe1034Leu) c.3180T>A (p.Phe1060Leu) c.2625T>A (p.Phe875Leu) | |
18 | g.44952442T>C | CA503982459 | SETBP1 | c.3102T>C (p.Phe1034=) c.3180T>C (p.Phe1060=) c.2625T>C (p.Phe875=) | |
18 | g.44952442T>G | CA402323452 | SETBP1 | c.3102T>G (p.Phe1034Leu) c.3180T>G (p.Phe1060Leu) c.2625T>G (p.Phe875Leu) | |
18 | g.44952443T>A | CA402323453 | SETBP1 | c.3103T>A (p.Leu1035Ile) c.3181T>A (p.Leu1061Ile) c.2626T>A (p.Leu876Ile) | |
18 | g.44952443T>C | CA503982460 | SETBP1 | c.3103T>C (p.Leu1035=) c.3181T>C (p.Leu1061=) c.2626T>C (p.Leu876=) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.44952443T>G | CA402323454 | SETBP1 | c.3103T>G (p.Leu1035Val) c.3181T>G (p.Leu1061Val) c.2626T>G (p.Leu876Val) | |
18 | g.44952443T= | CA2300140995 | SETBP1 | c.3103T= (p.Leu1035=) c.3181T= (p.Leu1061=) c.2626T= (p.Leu876=) | |
18 | g.44952444T>A | CA402323456 | SETBP1 | c.3104T>A (p.Leu1035Ter) c.3182T>A (p.Leu1061Ter) c.2627T>A (p.Leu876Ter) | |
18 | g.44952444T>C | CA402323457 | SETBP1 | c.3104T>C (p.Leu1035Ser) c.3182T>C (p.Leu1061Ser) c.2627T>C (p.Leu876Ser) | dbSNP |
18 | g.44952444T>G | CA402323455 | SETBP1 | c.3104T>G (p.Leu1035Ter) c.3182T>G (p.Leu1061Ter) c.2627T>G (p.Leu876Ter) | |
18 | g.44952444T= | CA2300140996 | SETBP1 | c.3104T= (p.Leu1035=) c.3182T= (p.Leu1061=) c.2627T= (p.Leu876=) | |
18 | g.44952445A>C | CA402323484 | SETBP1 | c.3105A>C (p.Leu1035Phe) c.3183A>C (p.Leu1061Phe) c.2628A>C (p.Leu876Phe) | |
18 | g.44952445A>G | CA503982461 | SETBP1 | c.3105A>G (p.Leu1035=) c.3183A>G (p.Leu1061=) c.2628A>G (p.Leu876=) | |
18 | g.44952445A>T | CA402323482 | SETBP1 | c.3105A>T (p.Leu1035Phe) c.3183A>T (p.Leu1061Phe) c.2628A>T (p.Leu876Phe) | |
18 | g.44952446C>A | CA402323486 | SETBP1 | c.3106C>A (p.Gln1036Lys) c.3184C>A (p.Gln1062Lys) c.2629C>A (p.Gln877Lys) | gnomAD v4 |
18 | g.44952446C>G | CA402323487 | SETBP1 | c.3106C>G (p.Gln1036Glu) c.3184C>G (p.Gln1062Glu) c.2629C>G (p.Gln877Glu) | |
18 | g.44952446C>T | CA402323488 | SETBP1 | c.3106C>T (p.Gln1036Ter) c.3184C>T (p.Gln1062Ter) c.2629C>T (p.Gln877Ter) | |
18 | g.44952447A>C | CA402323489 | SETBP1 | c.3107A>C (p.Gln1036Pro) c.3185A>C (p.Gln1062Pro) c.2630A>C (p.Gln877Pro) | |
18 | g.44952447A>G | CA402323491 | SETBP1 | c.3107A>G (p.Gln1036Arg) c.3185A>G (p.Gln1062Arg) c.2630A>G (p.Gln877Arg) | |
18 | g.44952447A>T | CA402323492 | SETBP1 | c.3107A>T (p.Gln1036Leu) c.3185A>T (p.Gln1062Leu) c.2630A>T (p.Gln877Leu) | |
18 | g.44952448A>C | CA402323495 | SETBP1 | c.3108A>C (p.Gln1036His) c.3186A>C (p.Gln1062His) c.2631A>C (p.Gln877His) | |
18 | g.44952448A>G | CA503982462 | SETBP1 | c.3108A>G (p.Gln1036=) c.3186A>G (p.Gln1062=) c.2631A>G (p.Gln877=) | COSMIC |
18 | g.44952448A>T | CA402323494 | SETBP1 | c.3108A>T (p.Gln1036His) c.3186A>T (p.Gln1062His) c.2631A>T (p.Gln877His) | COSMIC |
18 | g.44952449G>A | CA402323496 | SETBP1 | c.3109G>A (p.Gly1037Arg) c.3187G>A (p.Gly1063Arg) c.2632G>A (p.Gly878Arg) | dbSNP |
18 | g.44952449G>C | CA402323498 | SETBP1 | c.3109G>C (p.Gly1037Arg) c.3187G>C (p.Gly1063Arg) c.2632G>C (p.Gly878Arg) | |
18 | g.44952449G>T | CA402323499 | SETBP1 | c.3109G>T (p.Gly1037Trp) c.3187G>T (p.Gly1063Trp) c.2632G>T (p.Gly878Trp) | |
18 | g.44952450G>A | CA402323501 | SETBP1 | c.3110G>A (p.Gly1037Glu) c.3188G>A (p.Gly1063Glu) c.2633G>A (p.Gly878Glu) | |
18 | g.44952450G>C | CA402323502 | SETBP1 | c.3110G>C (p.Gly1037Ala) c.3188G>C (p.Gly1063Ala) c.2633G>C (p.Gly878Ala) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.44952450G= | CA2300140997 | SETBP1 | c.3110G= (p.Gly1037=) c.3188G= (p.Gly1063=) c.2633G= (p.Gly878=) | |
18 | g.44952450G>T | CA402323503 | SETBP1 | c.3110G>T (p.Gly1037Val) c.3188G>T (p.Gly1063Val) c.2633G>T (p.Gly878Val) | |
18 | g.44952451G>A | CA503982464 | SETBP1 | c.3111G>A (p.Gly1037=) c.3189G>A (p.Gly1063=) c.2634G>A (p.Gly878=) | gnomAD v4 |
18 | g.44952451G>C | CA503982465 | SETBP1 | c.3111G>C (p.Gly1037=) c.3189G>C (p.Gly1063=) c.2634G>C (p.Gly878=) | |
18 | g.44952451G>T | CA503982463 | SETBP1 | c.3111G>T (p.Gly1037=) c.3189G>T (p.Gly1063=) c.2634G>T (p.Gly878=) | ClinVar dbSNP |
18 | g.44952452T>A | CA402323508 | SETBP1 | c.3112T>A (p.Phe1038Ile) c.3190T>A (p.Phe1064Ile) c.2635T>A (p.Phe879Ile) | COSMIC |
18 | g.44952452T>C | CA402323505 | SETBP1 | c.3112T>C (p.Phe1038Leu) c.3190T>C (p.Phe1064Leu) c.2635T>C (p.Phe879Leu) | |
18 | g.44952452T>G | CA402323506 | SETBP1 | c.3112T>G (p.Phe1038Val) c.3190T>G (p.Phe1064Val) c.2635T>G (p.Phe879Val) | |
18 | g.44952453T>A | CA402323510 | SETBP1 | c.3113T>A (p.Phe1038Tyr) c.3191T>A (p.Phe1064Tyr) c.2636T>A (p.Phe879Tyr) | |
18 | g.44952453T>C | CA402323511 | SETBP1 | c.3113T>C (p.Phe1038Ser) c.3191T>C (p.Phe1064Ser) c.2636T>C (p.Phe879Ser) | |
18 | g.44952453T>G | CA402323512 | SETBP1 | c.3113T>G (p.Phe1038Cys) c.3191T>G (p.Phe1064Cys) c.2636T>G (p.Phe879Cys) | |
18 | g.44952454C>A | CA402323514 | SETBP1 | c.3114C>A (p.Phe1038Leu) c.3192C>A (p.Phe1064Leu) c.2637C>A (p.Phe879Leu) | |
18 | g.44952454C= | CA2300140998 | SETBP1 | c.3114C= (p.Phe1038=) c.3192C= (p.Phe1064=) c.2637C= (p.Phe879=) | |
18 | g.44952454C>G | CA402323516 | SETBP1 | c.3114C>G (p.Phe1038Leu) c.3192C>G (p.Phe1064Leu) c.2637C>G (p.Phe879Leu) | |
18 | g.44952454C>T | CA503982466 | SETBP1 | c.3114C>T (p.Phe1038=) c.3192C>T (p.Phe1064=) c.2637C>T (p.Phe879=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
18 | g.44952455A>C | CA402323518 | SETBP1 | c.3115A>C (p.Ser1039Arg) c.3193A>C (p.Ser1065Arg) c.2638A>C (p.Ser880Arg) | |
18 | g.44952455A>G | CA402323519 | SETBP1 | c.3115A>G (p.Ser1039Gly) c.3193A>G (p.Ser1065Gly) c.2638A>G (p.Ser880Gly) | gnomAD v4 |
18 | g.44952455A>T | CA402323521 | SETBP1 | c.3115A>T (p.Ser1039Cys) c.3193A>T (p.Ser1065Cys) c.2638A>T (p.Ser880Cys) | ClinVar |
18 | g.44952456G>A | CA402323522 | SETBP1 | c.3116G>A (p.Ser1039Asn) c.3194G>A (p.Ser1065Asn) c.2639G>A (p.Ser880Asn) | gnomAD v4 |
18 | g.44952456G>C | CA402323524 | SETBP1 | c.3116G>C (p.Ser1039Thr) c.3194G>C (p.Ser1065Thr) c.2639G>C (p.Ser880Thr) | |
18 | g.44952456G>T | CA402323525 | SETBP1 | c.3116G>T (p.Ser1039Ile) c.3194G>T (p.Ser1065Ile) c.2639G>T (p.Ser880Ile) | |
18 | g.44952457C>A | CA402323527 | SETBP1 | c.3117C>A (p.Ser1039Arg) c.3195C>A (p.Ser1065Arg) c.2640C>A (p.Ser880Arg) | |
18 | g.44952457C>G | CA402323529 | SETBP1 | c.3117C>G (p.Ser1039Arg) c.3195C>G (p.Ser1065Arg) c.2640C>G (p.Ser880Arg) | |
18 | g.44952457C>T | CA503982467 | SETBP1 | c.3117C>T (p.Ser1039=) c.3195C>T (p.Ser1065=) c.2640C>T (p.Ser880=) | gnomAD v4 |
18 | g.44952458T>A | CA402323530 | SETBP1 | c.3118T>A (p.Tyr1040Asn) c.3196T>A (p.Tyr1066Asn) c.2641T>A (p.Tyr881Asn) | |
18 | g.44952458T>C | CA402323533 | SETBP1 | c.3118T>C (p.Tyr1040His) c.3196T>C (p.Tyr1066His) c.2641T>C (p.Tyr881His) | ClinVar |
18 | g.44952458T>G | CA402323531 | SETBP1 | c.3118T>G (p.Tyr1040Asp) c.3196T>G (p.Tyr1066Asp) c.2641T>G (p.Tyr881Asp) | |
18 | g.44952459A= | CA2300140999 | SETBP1 | c.3119A= (p.Tyr1040=) c.3197A= (p.Tyr1066=) c.2642A= (p.Tyr881=) | |
18 | g.44952459A>C | CA402323535 | SETBP1 | c.3119A>C (p.Tyr1040Ser) c.3197A>C (p.Tyr1066Ser) c.2642A>C (p.Tyr881Ser) | |
18 | g.44952459A>G | CA402323537 | SETBP1 | c.3119A>G (p.Tyr1040Cys) c.3197A>G (p.Tyr1066Cys) c.2642A>G (p.Tyr881Cys) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.44952459A>T | CA402323538 | SETBP1 | c.3119A>T (p.Tyr1040Phe) c.3197A>T (p.Tyr1066Phe) c.2642A>T (p.Tyr881Phe) | |
18 | g.44952460C>A | CA402323540 | SETBP1 | c.3120C>A (p.Tyr1040Ter) c.3198C>A (p.Tyr1066Ter) c.2643C>A (p.Tyr881Ter) | |
18 | g.44952460C>G | CA402323542 | SETBP1 | c.3120C>G (p.Tyr1040Ter) c.3198C>G (p.Tyr1066Ter) c.2643C>G (p.Tyr881Ter) | |
18 | g.44952460C>T | CA503982468 | SETBP1 | c.3120C>T (p.Tyr1040=) c.3198C>T (p.Tyr1066=) c.2643C>T (p.Tyr881=) | |
18 | g.44952461C>A | CA402323546 | SETBP1 | c.3121C>A (p.Pro1041Thr) c.3199C>A (p.Pro1067Thr) c.2644C>A (p.Pro882Thr) | |
18 | g.44952461C= | CA2300141000 | SETBP1 | c.3121C= (p.Pro1041=) c.3199C= (p.Pro1067=) c.2644C= (p.Pro882=) | |
18 | g.44952461C>G | CA402323544 | SETBP1 | c.3121C>G (p.Pro1041Ala) c.3199C>G (p.Pro1067Ala) c.2644C>G (p.Pro882Ala) | gnomAD v4 |
18 | g.44952461C>T | CA8945855 | SETBP1 | c.3121C>T (p.Pro1041Ser) c.3199C>T (p.Pro1067Ser) c.2644C>T (p.Pro882Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.44952462C>A | CA402323547 | SETBP1 | c.3122C>A (p.Pro1041His) c.3200C>A (p.Pro1067His) c.2645C>A (p.Pro882His) | |
18 | g.44952462C>G | CA402323548 | SETBP1 | c.3122C>G (p.Pro1041Arg) c.3200C>G (p.Pro1067Arg) c.2645C>G (p.Pro882Arg) | |
18 | g.44952462C>T | CA402323550 | SETBP1 | c.3122C>T (p.Pro1041Leu) c.3200C>T (p.Pro1067Leu) c.2645C>T (p.Pro882Leu) | |
18 | g.44952463T>A | CA503982469 | SETBP1 | c.3123T>A (p.Pro1041=) c.3201T>A (p.Pro1067=) c.2646T>A (p.Pro882=) | |
18 | g.44952463T>C | CA503982470 | SETBP1 | c.3123T>C (p.Pro1041=) c.3201T>C (p.Pro1067=) c.2646T>C (p.Pro882=) | |
18 | g.44952463T>G | CA503982471 | SETBP1 | c.3123T>G (p.Pro1041=) c.3201T>G (p.Pro1067=) c.2646T>G (p.Pro882=) | |
18 | g.44952464A>C | CA402323552 | SETBP1 | c.3124A>C (p.Ile1042Leu) c.3202A>C (p.Ile1068Leu) c.2647A>C (p.Ile883Leu) | |
18 | g.44952464A>G | CA402323554 | SETBP1 | c.3124A>G (p.Ile1042Val) c.3202A>G (p.Ile1068Val) c.2647A>G (p.Ile883Val) | |
18 | g.44952464A>T | CA402323555 | SETBP1 | c.3124A>T (p.Ile1042Phe) c.3202A>T (p.Ile1068Phe) c.2647A>T (p.Ile883Phe) | |
18 | g.44952465T>A | CA402323556 | SETBP1 | c.3125T>A (p.Ile1042Asn) c.3203T>A (p.Ile1068Asn) c.2648T>A (p.Ile883Asn) | |
18 | g.44952465T>C | CA402323559 | SETBP1 | c.3125T>C (p.Ile1042Thr) c.3203T>C (p.Ile1068Thr) c.2648T>C (p.Ile883Thr) | gnomAD v4 |
18 | g.44952465T>G | CA402323557 | SETBP1 | c.3125T>G (p.Ile1042Ser) c.3203T>G (p.Ile1068Ser) c.2648T>G (p.Ile883Ser) | |
18 | g.44952466T>A | CA503982472 | SETBP1 | c.3126T>A (p.Ile1042=) c.3204T>A (p.Ile1068=) c.2649T>A (p.Ile883=) | |
18 | g.44952466T>C | CA503982473 | SETBP1 | c.3126T>C (p.Ile1042=) c.3204T>C (p.Ile1068=) c.2649T>C (p.Ile883=) | gnomAD v4 |
18 | g.44952466T>G | CA402323560 | SETBP1 | c.3126T>G (p.Ile1042Met) c.3204T>G (p.Ile1068Met) c.2649T>G (p.Ile883Met) | |
18 | g.44952467C>A | CA402323562 | SETBP1 | c.3127C>A (p.Pro1043Thr) c.3205C>A (p.Pro1069Thr) c.2650C>A (p.Pro884Thr) | gnomAD v4 |
18 | g.44952467C>G | CA402323564 | SETBP1 | c.3127C>G (p.Pro1043Ala) c.3205C>G (p.Pro1069Ala) c.2650C>G (p.Pro884Ala) | |
18 | g.44952467C>T | CA402323566 | SETBP1 | c.3127C>T (p.Pro1043Ser) c.3205C>T (p.Pro1069Ser) c.2650C>T (p.Pro884Ser) | gnomAD v4 |
18 | g.44952468C>A | CA402323567 | SETBP1 | c.3128C>A (p.Pro1043His) c.3206C>A (p.Pro1069His) c.2651C>A (p.Pro884His) | |
18 | g.44952468C= | CA2300141001 | SETBP1 | c.3128C= (p.Pro1043=) c.3206C= (p.Pro1069=) c.2651C= (p.Pro884=) | |
18 | g.44952468C>G | CA402323569 | SETBP1 | c.3128C>G (p.Pro1043Arg) c.3206C>G (p.Pro1069Arg) c.2651C>G (p.Pro884Arg) | |
18 | g.44952468C>T | CA402323570 | SETBP1 | c.3128C>T (p.Pro1043Leu) c.3206C>T (p.Pro1069Leu) c.2651C>T (p.Pro884Leu) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.44952469C>A | CA503982475 | SETBP1 | c.3129C>A (p.Pro1043=) c.3207C>A (p.Pro1069=) c.2652C>A (p.Pro884=) | |
18 | g.44952469C>G | CA503982476 | SETBP1 | c.3129C>G (p.Pro1043=) c.3207C>G (p.Pro1069=) c.2652C>G (p.Pro884=) | |
18 | g.44952469C>T | CA503982477 | SETBP1 | c.3129C>T (p.Pro1043=) c.3207C>T (p.Pro1069=) c.2652C>T (p.Pro884=) | gnomAD v4 |
18 | g.44952470A>C | CA402323572 | SETBP1 | c.3130A>C (p.Ser1044Arg) c.3208A>C (p.Ser1070Arg) c.2653A>C (p.Ser885Arg) | |
18 | g.44952470A>G | CA402323574 | SETBP1 | c.3130A>G (p.Ser1044Gly) c.3208A>G (p.Ser1070Gly) c.2653A>G (p.Ser885Gly) | |
18 | g.44952470A>T | CA402323575 | SETBP1 | c.3130A>T (p.Ser1044Cys) c.3208A>T (p.Ser1070Cys) c.2653A>T (p.Ser885Cys) | |
18 | g.44952471G>A | CA402323576 | SETBP1 | c.3131G>A (p.Ser1044Asn) c.3209G>A (p.Ser1070Asn) c.2654G>A (p.Ser885Asn) | |
18 | g.44952471G>C | CA402323579 | SETBP1 | c.3131G>C (p.Ser1044Thr) c.3209G>C (p.Ser1070Thr) c.2654G>C (p.Ser885Thr) | |
18 | g.44952471G>T | CA402323577 | SETBP1 | c.3131G>T (p.Ser1044Ile) c.3209G>T (p.Ser1070Ile) c.2654G>T (p.Ser885Ile) | |
18 | g.44952472T>A | CA402323581 | SETBP1 | c.3132T>A (p.Ser1044Arg) c.3210T>A (p.Ser1070Arg) c.2655T>A (p.Ser885Arg) | |
18 | g.44952472T>C | CA503982479 | SETBP1 | c.3132T>C (p.Ser1044=) c.3210T>C (p.Ser1070=) c.2655T>C (p.Ser885=) | |
18 | g.44952472T>G | CA402323583 | SETBP1 | c.3132T>G (p.Ser1044Arg) c.3210T>G (p.Ser1070Arg) c.2655T>G (p.Ser885Arg) |