Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.6467897_6467898del | CA1151516436 | PLEKHG5 | c.2940_2941del (p.His980GlnfsTer18) c.3114_3115del (p.His1038GlnfsTer18) c.3051_3052del (p.His1017GlnfsTer18) n.3416_3417del c.3147_3148del (p.His1049GlnfsTer18) c.3237_3238del (p.His1079GlnfsTer18) c.*3152_*3153del (n.*3152_*3153del) c.2250-3_2250-2del (n.2250-3_2250-2del) c.*2768_*2769del (n.*2768_*2769del) c.813_814del (p.His271GlnfsTer18) c.2740_2741del (p.Gln914GlyfsTer3) c.2481-3_2481-2del (n.2481-3_2481-2del) c.3171_3172del (p.His1057GlnfsTer18) c.3108_3109del (p.His1036GlnfsTer18) n.2142_2143del c.3177_3178del (p.His1059GlnfsTer18) | |
1 | g.6467897T>A | CA338113787 | PLEKHG5 | c.2939A>T (p.His980Leu) c.3113A>T (p.His1038Leu) c.3050A>T (p.His1017Leu) n.3415A>T c.3146A>T (p.His1049Leu) c.3236A>T (p.His1079Leu) c.*3151A>T (n.*3151A>T) c.2250-4A>T (n.2250-4A>T) c.*2767A>T (n.*2767A>T) c.812A>T (p.His271Leu) c.2739A>T (p.Ala913=) c.2481-4A>T (n.2481-4A>T) c.3170A>T (p.His1057Leu) c.3107A>T (p.His1036Leu) n.2141A>T c.3176A>T (p.His1059Leu) | |
1 | g.6467897T>C | CA338113790 | PLEKHG5 | c.2939A>G (p.His980Arg) c.3113A>G (p.His1038Arg) c.3050A>G (p.His1017Arg) n.3415A>G c.3146A>G (p.His1049Arg) c.3236A>G (p.His1079Arg) c.*3151A>G (n.*3151A>G) c.2250-4A>G (n.2250-4A>G) c.*2767A>G (n.*2767A>G) c.812A>G (p.His271Arg) c.2739A>G (p.Ala913=) c.2481-4A>G (n.2481-4A>G) c.3170A>G (p.His1057Arg) c.3107A>G (p.His1036Arg) n.2141A>G c.3176A>G (p.His1059Arg) | gnomAD v4 |
1 | g.6467897T>G | CA338113793 | PLEKHG5 | c.2939A>C (p.His980Pro) c.3113A>C (p.His1038Pro) c.3050A>C (p.His1017Pro) n.3415A>C c.3146A>C (p.His1049Pro) c.3236A>C (p.His1079Pro) c.*3151A>C (n.*3151A>C) c.2250-4A>C (n.2250-4A>C) c.*2767A>C (n.*2767A>C) c.812A>C (p.His271Pro) c.2739A>C (p.Ala913=) c.2481-4A>C (n.2481-4A>C) c.3170A>C (p.His1057Pro) c.3107A>C (p.His1036Pro) n.2141A>C c.3176A>C (p.His1059Pro) | |
1 | g.6467898G>A | CA338113801 | PLEKHG5 | c.2938C>T (p.His980Tyr) c.3112C>T (p.His1038Tyr) c.3049C>T (p.His1017Tyr) n.3414C>T c.3145C>T (p.His1049Tyr) c.3235C>T (p.His1079Tyr) c.*3150C>T (n.*3150C>T) c.2250-5C>T (n.2250-5C>T) c.*2766C>T (n.*2766C>T) c.811C>T (p.His271Tyr) c.2738C>T (p.Ala913Val) c.2481-5C>T (n.2481-5C>T) c.3169C>T (p.His1057Tyr) c.3106C>T (p.His1036Tyr) n.2140C>T c.3175C>T (p.His1059Tyr) | |
1 | g.6467898G>C | CA338113805 | PLEKHG5 | c.2938C>G (p.His980Asp) c.3112C>G (p.His1038Asp) c.3049C>G (p.His1017Asp) n.3414C>G c.3145C>G (p.His1049Asp) c.3235C>G (p.His1079Asp) c.*3150C>G (n.*3150C>G) c.2250-5C>G (n.2250-5C>G) c.*2766C>G (n.*2766C>G) c.811C>G (p.His271Asp) c.2738C>G (p.Ala913Gly) c.2481-5C>G (n.2481-5C>G) c.3169C>G (p.His1057Asp) c.3106C>G (p.His1036Asp) n.2140C>G c.3175C>G (p.His1059Asp) | |
1 | g.6467898G>T | CA338113806 | PLEKHG5 | c.2938C>A (p.His980Asn) c.3112C>A (p.His1038Asn) c.3049C>A (p.His1017Asn) n.3414C>A c.3145C>A (p.His1049Asn) c.3235C>A (p.His1079Asn) c.*3150C>A (n.*3150C>A) c.2250-5C>A (n.2250-5C>A) c.*2766C>A (n.*2766C>A) c.811C>A (p.His271Asn) c.2738C>A (p.Ala913Glu) c.2481-5C>A (n.2481-5C>A) c.3169C>A (p.His1057Asn) c.3106C>A (p.His1036Asn) n.2140C>A c.3175C>A (p.His1059Asn) | |
1 | g.6467899C>A | CA338113807 | PLEKHG5 | c.2937G>T (p.Gln979His) c.3111G>T (p.Gln1037His) c.3048G>T (p.Gln1016His) n.3413G>T c.3144G>T (p.Gln1048His) c.3234G>T (p.Gln1078His) c.*3149G>T (n.*3149G>T) c.2250-6G>T (n.2250-6G>T) c.*2765G>T (n.*2765G>T) c.810G>T (p.Gln270His) c.2738-1G>T (n.2738-1G>T) c.2481-6G>T (n.2481-6G>T) c.3168G>T (p.Gln1056His) c.3105G>T (p.Gln1035His) n.2139G>T c.3174G>T (p.Gln1058His) | |
1 | g.6467899C>G | CA338113808 | PLEKHG5 | c.2937G>C (p.Gln979His) c.3111G>C (p.Gln1037His) c.3048G>C (p.Gln1016His) n.3413G>C c.3144G>C (p.Gln1048His) c.3234G>C (p.Gln1078His) c.*3149G>C (n.*3149G>C) c.2250-6G>C (n.2250-6G>C) c.*2765G>C (n.*2765G>C) c.810G>C (p.Gln270His) c.2738-1G>C (n.2738-1G>C) c.2481-6G>C (n.2481-6G>C) c.3168G>C (p.Gln1056His) c.3105G>C (p.Gln1035His) n.2139G>C c.3174G>C (p.Gln1058His) | |
1 | g.6467899C>T | CA338113809 | PLEKHG5 | c.2937G>A (p.Gln979=) c.3111G>A (p.Gln1037=) c.3048G>A (p.Gln1016=) n.3413G>A c.3144G>A (p.Gln1048=) c.3234G>A (p.Gln1078=) c.*3149G>A (n.*3149G>A) c.2250-6G>A (n.2250-6G>A) c.*2765G>A (n.*2765G>A) c.810G>A (p.Gln270=) c.2738-1G>A (n.2738-1G>A) c.2481-6G>A (n.2481-6G>A) c.3168G>A (p.Gln1056=) c.3105G>A (p.Gln1035=) n.2139G>A c.3174G>A (p.Gln1058=) | gnomAD v4 COSMIC COSMIC COSMIC |
1 | g.6467900T>A | CA338113811 | PLEKHG5 | c.2936A>T (p.Gln979Leu) c.3110A>T (p.Gln1037Leu) c.3047A>T (p.Gln1016Leu) n.3412A>T c.3143A>T (p.Gln1048Leu) c.3233A>T (p.Gln1078Leu) c.*3148A>T (n.*3148A>T) c.2250-7A>T (n.2250-7A>T) c.*2764A>T (n.*2764A>T) c.809A>T (p.Gln270Leu) c.2738-2A>T (n.2738-2A>T) c.2481-7A>T (n.2481-7A>T) c.3167A>T (p.Gln1056Leu) c.3104A>T (p.Gln1035Leu) n.2138A>T c.3173A>T (p.Gln1058Leu) | |
1 | g.6467900T>C | CA338113814 | PLEKHG5 | c.2936A>G (p.Gln979Arg) c.3110A>G (p.Gln1037Arg) c.3047A>G (p.Gln1016Arg) n.3412A>G c.3143A>G (p.Gln1048Arg) c.3233A>G (p.Gln1078Arg) c.*3148A>G (n.*3148A>G) c.2250-7A>G (n.2250-7A>G) c.*2764A>G (n.*2764A>G) c.809A>G (p.Gln270Arg) c.2738-2A>G (n.2738-2A>G) c.2481-7A>G (n.2481-7A>G) c.3167A>G (p.Gln1056Arg) c.3104A>G (p.Gln1035Arg) n.2138A>G c.3173A>G (p.Gln1058Arg) | |
1 | g.6467900T>G | CA338113820 | PLEKHG5 | c.2936A>C (p.Gln979Pro) c.3110A>C (p.Gln1037Pro) c.3047A>C (p.Gln1016Pro) n.3412A>C c.3143A>C (p.Gln1048Pro) c.3233A>C (p.Gln1078Pro) c.*3148A>C (n.*3148A>C) c.2250-7A>C (n.2250-7A>C) c.*2764A>C (n.*2764A>C) c.809A>C (p.Gln270Pro) c.2738-2A>C (n.2738-2A>C) c.2481-7A>C (n.2481-7A>C) c.3167A>C (p.Gln1056Pro) c.3104A>C (p.Gln1035Pro) n.2138A>C c.3173A>C (p.Gln1058Pro) | |
1 | g.6467901G>A | CA338113840 | PLEKHG5 | c.2935C>T (p.Gln979Ter) c.3109C>T (p.Gln1037Ter) c.3046C>T (p.Gln1016Ter) n.3411C>T c.3142C>T (p.Gln1048Ter) c.3232C>T (p.Gln1078Ter) c.*3147C>T (n.*3147C>T) c.2250-8C>T (n.2250-8C>T) c.*2763C>T (n.*2763C>T) c.808C>T (p.Gln270Ter) c.2738-3C>T (n.2738-3C>T) c.2481-8C>T (n.2481-8C>T) c.3166C>T (p.Gln1056Ter) c.3103C>T (p.Gln1035Ter) n.2137C>T c.3172C>T (p.Gln1058Ter) | |
1 | g.6467901G>C | CA338113846 | PLEKHG5 | c.2935C>G (p.Gln979Glu) c.3109C>G (p.Gln1037Glu) c.3046C>G (p.Gln1016Glu) n.3411C>G c.3142C>G (p.Gln1048Glu) c.3232C>G (p.Gln1078Glu) c.*3147C>G (n.*3147C>G) c.2250-8C>G (n.2250-8C>G) c.*2763C>G (n.*2763C>G) c.808C>G (p.Gln270Glu) c.2738-3C>G (n.2738-3C>G) c.2481-8C>G (n.2481-8C>G) c.3166C>G (p.Gln1056Glu) c.3103C>G (p.Gln1035Glu) n.2137C>G c.3172C>G (p.Gln1058Glu) | |
1 | g.6467901G>T | CA338113841 | PLEKHG5 | c.2935C>A (p.Gln979Lys) c.3109C>A (p.Gln1037Lys) c.3046C>A (p.Gln1016Lys) n.3411C>A c.3142C>A (p.Gln1048Lys) c.3232C>A (p.Gln1078Lys) c.*3147C>A (n.*3147C>A) c.2250-8C>A (n.2250-8C>A) c.*2763C>A (n.*2763C>A) c.808C>A (p.Gln270Lys) c.2738-3C>A (n.2738-3C>A) c.2481-8C>A (n.2481-8C>A) c.3166C>A (p.Gln1056Lys) c.3103C>A (p.Gln1035Lys) n.2137C>A c.3172C>A (p.Gln1058Lys) | gnomAD v4 |
1 | g.6467903del | CA2839305581 | PLEKHG5 | c.2935del (p.Gln979SerfsTer5) c.3109del (p.Gln1037SerfsTer5) c.3046del (p.Gln1016SerfsTer5) n.3411del c.3142del (p.Gln1048SerfsTer5) c.3232del (p.Gln1078SerfsTer5) c.*3147del (n.*3147del) c.2250-8del (n.2250-8del) c.*2763del (n.*2763del) c.808del (p.Gln270SerfsTer5) c.2738-3del (n.2738-3del) c.2481-8del (n.2481-8del) c.3166del (p.Gln1056SerfsTer5) c.3103del (p.Gln1035SerfsTer5) n.2137del c.3172del (p.Gln1058SerfsTer5) | |
1 | g.6467902G>A | CA416021990 | PLEKHG5 | c.2934C>T (p.Ala978=) c.3108C>T (p.Ala1036=) c.3045C>T (p.Ala1015=) n.3410C>T c.3141C>T (p.Ala1047=) c.3231C>T (p.Ala1077=) c.*3146C>T (n.*3146C>T) c.2250-9C>T (n.2250-9C>T) c.*2762C>T (n.*2762C>T) c.807C>T (p.Ala269=) c.2738-4C>T (n.2738-4C>T) c.2481-9C>T (n.2481-9C>T) c.3165C>T (p.Ala1055=) c.3102C>T (p.Ala1034=) n.2136C>T c.3171C>T (p.Ala1057=) | gnomAD v4 |
1 | g.6467902G>C | CA416021991 | PLEKHG5 | c.2934C>G (p.Ala978=) c.3108C>G (p.Ala1036=) c.3045C>G (p.Ala1015=) n.3410C>G c.3141C>G (p.Ala1047=) c.3231C>G (p.Ala1077=) c.*3146C>G (n.*3146C>G) c.2250-9C>G (n.2250-9C>G) c.*2762C>G (n.*2762C>G) c.807C>G (p.Ala269=) c.2738-4C>G (n.2738-4C>G) c.2481-9C>G (n.2481-9C>G) c.3165C>G (p.Ala1055=) c.3102C>G (p.Ala1034=) n.2136C>G c.3171C>G (p.Ala1057=) | |
1 | g.6467902G>T | CA416021989 | PLEKHG5 | c.2934C>A (p.Ala978=) c.3108C>A (p.Ala1036=) c.3045C>A (p.Ala1015=) n.3410C>A c.3141C>A (p.Ala1047=) c.3231C>A (p.Ala1077=) c.*3146C>A (n.*3146C>A) c.2250-9C>A (n.2250-9C>A) c.*2762C>A (n.*2762C>A) c.807C>A (p.Ala269=) c.2738-4C>A (n.2738-4C>A) c.2481-9C>A (n.2481-9C>A) c.3165C>A (p.Ala1055=) c.3102C>A (p.Ala1034=) n.2136C>A c.3171C>A (p.Ala1057=) | |
1 | g.6467903G>A | CA17233211 | PLEKHG5 | c.2933C>T (p.Ala978Val) c.3107C>T (p.Ala1036Val) c.3044C>T (p.Ala1015Val) n.3409C>T c.3140C>T (p.Ala1047Val) c.3230C>T (p.Ala1077Val) c.*3145C>T (n.*3145C>T) c.2250-10C>T (n.2250-10C>T) c.*2761C>T (n.*2761C>T) c.806C>T (p.Ala269Val) c.2738-5C>T (n.2738-5C>T) c.2481-10C>T (n.2481-10C>T) c.3164C>T (p.Ala1055Val) c.3101C>T (p.Ala1034Val) n.2135C>T c.3170C>T (p.Ala1057Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.6467903G>C | CA338113860 | PLEKHG5 | c.2933C>G (p.Ala978Gly) c.3107C>G (p.Ala1036Gly) c.3044C>G (p.Ala1015Gly) n.3409C>G c.3140C>G (p.Ala1047Gly) c.3230C>G (p.Ala1077Gly) c.*3145C>G (n.*3145C>G) c.2250-10C>G (n.2250-10C>G) c.*2761C>G (n.*2761C>G) c.806C>G (p.Ala269Gly) c.2738-5C>G (n.2738-5C>G) c.2481-10C>G (n.2481-10C>G) c.3164C>G (p.Ala1055Gly) c.3101C>G (p.Ala1034Gly) n.2135C>G c.3170C>G (p.Ala1057Gly) | |
1 | g.6467903G= | CA1142344990 | PLEKHG5 | c.2933C= (p.Ala978=) c.3107C= (p.Ala1036=) c.3044C= (p.Ala1015=) n.3409C= c.3140C= (p.Ala1047=) c.3230C= (p.Ala1077=) c.*3145C= (n.*3145C=) c.2250-10C= (n.2250-10C=) c.*2761C= (n.*2761C=) c.806C= (p.Ala269=) c.2738-5C= (n.2738-5C=) c.2481-10C= (n.2481-10C=) c.3164C= (p.Ala1055=) c.3101C= (p.Ala1034=) n.2135C= c.3170C= (p.Ala1057=) | |
1 | g.6467903G>T | CA338113862 | PLEKHG5 | c.2933C>A (p.Ala978Asp) c.3107C>A (p.Ala1036Asp) c.3044C>A (p.Ala1015Asp) n.3409C>A c.3140C>A (p.Ala1047Asp) c.3230C>A (p.Ala1077Asp) c.*3145C>A (n.*3145C>A) c.2250-10C>A (n.2250-10C>A) c.*2761C>A (n.*2761C>A) c.806C>A (p.Ala269Asp) c.2738-5C>A (n.2738-5C>A) c.2481-10C>A (n.2481-10C>A) c.3164C>A (p.Ala1055Asp) c.3101C>A (p.Ala1034Asp) n.2135C>A c.3170C>A (p.Ala1057Asp) | gnomAD v4 |
1 | g.6467904C>A | CA338113864 | PLEKHG5 | c.2932G>T (p.Ala978Ser) c.3106G>T (p.Ala1036Ser) c.3043G>T (p.Ala1015Ser) n.3408G>T c.3139G>T (p.Ala1047Ser) c.3229G>T (p.Ala1077Ser) c.*3144G>T (n.*3144G>T) c.2250-11G>T (n.2250-11G>T) c.*2760G>T (n.*2760G>T) c.805G>T (p.Ala269Ser) c.2738-6G>T (n.2738-6G>T) c.2481-11G>T (n.2481-11G>T) c.3163G>T (p.Ala1055Ser) c.3100G>T (p.Ala1034Ser) n.2134G>T c.3169G>T (p.Ala1057Ser) | gnomAD v4 |
1 | g.6467904C= | CA1143627610 | PLEKHG5 | c.2932G= (p.Ala978=) c.3106G= (p.Ala1036=) c.3043G= (p.Ala1015=) n.3408G= c.3139G= (p.Ala1047=) c.3229G= (p.Ala1077=) c.*3144G= (n.*3144G=) c.2250-11G= (n.2250-11G=) c.*2760G= (n.*2760G=) c.805G= (p.Ala269=) c.2738-6G= (n.2738-6G=) c.2481-11G= (n.2481-11G=) c.3163G= (p.Ala1055=) c.3100G= (p.Ala1034=) n.2134G= c.3169G= (p.Ala1057=) | |
1 | g.6467904C>G | CA561061 | PLEKHG5 | c.2932G>C (p.Ala978Pro) c.3106G>C (p.Ala1036Pro) c.3043G>C (p.Ala1015Pro) n.3408G>C c.3139G>C (p.Ala1047Pro) c.3229G>C (p.Ala1077Pro) c.*3144G>C (n.*3144G>C) c.2250-11G>C (n.2250-11G>C) c.*2760G>C (n.*2760G>C) c.805G>C (p.Ala269Pro) c.2738-6G>C (n.2738-6G>C) c.2481-11G>C (n.2481-11G>C) c.3163G>C (p.Ala1055Pro) c.3100G>C (p.Ala1034Pro) n.2134G>C c.3169G>C (p.Ala1057Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.6467904C>T | CA561062 | PLEKHG5 | c.2932G>A (p.Ala978Thr) c.3106G>A (p.Ala1036Thr) c.3043G>A (p.Ala1015Thr) n.3408G>A c.3139G>A (p.Ala1047Thr) c.3229G>A (p.Ala1077Thr) c.*3144G>A (n.*3144G>A) c.2250-11G>A (n.2250-11G>A) c.*2760G>A (n.*2760G>A) c.805G>A (p.Ala269Thr) c.2738-6G>A (n.2738-6G>A) c.2481-11G>A (n.2481-11G>A) c.3163G>A (p.Ala1055Thr) c.3100G>A (p.Ala1034Thr) n.2134G>A c.3169G>A (p.Ala1057Thr) | dbSNP ExAC gnomAD v2 |
1 | g.6467905A>C | CA416021994 | PLEKHG5 | c.2931T>G (p.Ser977=) c.3105T>G (p.Ser1035=) c.3042T>G (p.Ser1014=) n.3407T>G c.3138T>G (p.Ser1046=) c.3228T>G (p.Ser1076=) c.*3143T>G (n.*3143T>G) c.2250-12T>G (n.2250-12T>G) c.*2759T>G (n.*2759T>G) c.804T>G (p.Ser268=) c.2738-7T>G (n.2738-7T>G) c.2481-12T>G (n.2481-12T>G) c.3162T>G (p.Ser1054=) c.3099T>G (p.Ser1033=) n.2133T>G c.3168T>G (p.Ser1056=) | |
1 | g.6467905A>G | CA416021992 | PLEKHG5 | c.2931T>C (p.Ser977=) c.3105T>C (p.Ser1035=) c.3042T>C (p.Ser1014=) n.3407T>C c.3138T>C (p.Ser1046=) c.3228T>C (p.Ser1076=) c.*3143T>C (n.*3143T>C) c.2250-12T>C (n.2250-12T>C) c.*2759T>C (n.*2759T>C) c.804T>C (p.Ser268=) c.2738-7T>C (n.2738-7T>C) c.2481-12T>C (n.2481-12T>C) c.3162T>C (p.Ser1054=) c.3099T>C (p.Ser1033=) n.2133T>C c.3168T>C (p.Ser1056=) | |
1 | g.6467905A>T | CA416021993 | PLEKHG5 | c.2931T>A (p.Ser977=) c.3105T>A (p.Ser1035=) c.3042T>A (p.Ser1014=) n.3407T>A c.3138T>A (p.Ser1046=) c.3228T>A (p.Ser1076=) c.*3143T>A (n.*3143T>A) c.2250-12T>A (n.2250-12T>A) c.*2759T>A (n.*2759T>A) c.804T>A (p.Ser268=) c.2738-7T>A (n.2738-7T>A) c.2481-12T>A (n.2481-12T>A) c.3162T>A (p.Ser1054=) c.3099T>A (p.Ser1033=) n.2133T>A c.3168T>A (p.Ser1056=) | |
1 | g.6467906G>A | CA338113866 | PLEKHG5 | c.2930C>T (p.Ser977Phe) c.3104C>T (p.Ser1035Phe) c.3041C>T (p.Ser1014Phe) n.3406C>T c.3137C>T (p.Ser1046Phe) c.3227C>T (p.Ser1076Phe) c.*3142C>T (n.*3142C>T) c.2250-13C>T (n.2250-13C>T) c.*2758C>T (n.*2758C>T) c.803C>T (p.Ser268Phe) c.2738-8C>T (n.2738-8C>T) c.2481-13C>T (n.2481-13C>T) c.3161C>T (p.Ser1054Phe) c.3098C>T (p.Ser1033Phe) n.2132C>T c.3167C>T (p.Ser1056Phe) | |
1 | g.6467906G>C | CA338113869 | PLEKHG5 | c.2930C>G (p.Ser977Cys) c.3104C>G (p.Ser1035Cys) c.3041C>G (p.Ser1014Cys) n.3406C>G c.3137C>G (p.Ser1046Cys) c.3227C>G (p.Ser1076Cys) c.*3142C>G (n.*3142C>G) c.2250-13C>G (n.2250-13C>G) c.*2758C>G (n.*2758C>G) c.803C>G (p.Ser268Cys) c.2738-8C>G (n.2738-8C>G) c.2481-13C>G (n.2481-13C>G) c.3161C>G (p.Ser1054Cys) c.3098C>G (p.Ser1033Cys) n.2132C>G c.3167C>G (p.Ser1056Cys) | |
1 | g.6467906G>T | CA338113873 | PLEKHG5 | c.2930C>A (p.Ser977Tyr) c.3104C>A (p.Ser1035Tyr) c.3041C>A (p.Ser1014Tyr) n.3406C>A c.3137C>A (p.Ser1046Tyr) c.3227C>A (p.Ser1076Tyr) c.*3142C>A (n.*3142C>A) c.2250-13C>A (n.2250-13C>A) c.*2758C>A (n.*2758C>A) c.803C>A (p.Ser268Tyr) c.2738-8C>A (n.2738-8C>A) c.2481-13C>A (n.2481-13C>A) c.3161C>A (p.Ser1054Tyr) c.3098C>A (p.Ser1033Tyr) n.2132C>A c.3167C>A (p.Ser1056Tyr) | |
1 | g.6467907A= | CA1151516460 | PLEKHG5 | c.2929T= (p.Ser977=) c.3103T= (p.Ser1035=) c.3040T= (p.Ser1014=) n.3405T= c.3136T= (p.Ser1046=) c.3226T= (p.Ser1076=) c.*3141T= (n.*3141T=) c.2250-14T= (n.2250-14T=) c.*2757T= (n.*2757T=) c.802T= (p.Ser268=) c.2738-9T= (n.2738-9T=) c.2481-14T= (n.2481-14T=) c.3160T= (p.Ser1054=) c.3097T= (p.Ser1033=) n.2131T= c.3166T= (p.Ser1056=) | |
1 | g.6467907A>C | CA338113889 | PLEKHG5 | c.2929T>G (p.Ser977Ala) c.3103T>G (p.Ser1035Ala) c.3040T>G (p.Ser1014Ala) n.3405T>G c.3136T>G (p.Ser1046Ala) c.3226T>G (p.Ser1076Ala) c.*3141T>G (n.*3141T>G) c.2250-14T>G (n.2250-14T>G) c.*2757T>G (n.*2757T>G) c.802T>G (p.Ser268Ala) c.2738-9T>G (n.2738-9T>G) c.2481-14T>G (n.2481-14T>G) c.3160T>G (p.Ser1054Ala) c.3097T>G (p.Ser1033Ala) n.2131T>G c.3166T>G (p.Ser1056Ala) | |
1 | g.6467907A>G | CA338113892 | PLEKHG5 | c.2929T>C (p.Ser977Pro) c.3103T>C (p.Ser1035Pro) c.3040T>C (p.Ser1014Pro) n.3405T>C c.3136T>C (p.Ser1046Pro) c.3226T>C (p.Ser1076Pro) c.*3141T>C (n.*3141T>C) c.2250-14T>C (n.2250-14T>C) c.*2757T>C (n.*2757T>C) c.802T>C (p.Ser268Pro) c.2738-9T>C (n.2738-9T>C) c.2481-14T>C (n.2481-14T>C) c.3160T>C (p.Ser1054Pro) c.3097T>C (p.Ser1033Pro) n.2131T>C c.3166T>C (p.Ser1056Pro) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.6467907A>T | CA338113880 | PLEKHG5 | c.2929T>A (p.Ser977Thr) c.3103T>A (p.Ser1035Thr) c.3040T>A (p.Ser1014Thr) n.3405T>A c.3136T>A (p.Ser1046Thr) c.3226T>A (p.Ser1076Thr) c.*3141T>A (n.*3141T>A) c.2250-14T>A (n.2250-14T>A) c.*2757T>A (n.*2757T>A) c.802T>A (p.Ser268Thr) c.2738-9T>A (n.2738-9T>A) c.2481-14T>A (n.2481-14T>A) c.3160T>A (p.Ser1054Thr) c.3097T>A (p.Ser1033Thr) n.2131T>A c.3166T>A (p.Ser1056Thr) | |
1 | g.6467908G>A | CA416021995 | PLEKHG5 | c.2928C>T (p.Val976=) c.3102C>T (p.Val1034=) c.3039C>T (p.Val1013=) n.3404C>T c.3135C>T (p.Val1045=) c.3225C>T (p.Val1075=) c.*3140C>T (n.*3140C>T) c.2250-15C>T (n.2250-15C>T) c.*2756C>T (n.*2756C>T) c.801C>T (p.Val267=) c.2738-10C>T (n.2738-10C>T) c.2481-15C>T (n.2481-15C>T) c.3159C>T (p.Val1053=) c.3096C>T (p.Val1032=) n.2130C>T c.3165C>T (p.Val1055=) | |
1 | g.6467908G>C | CA416021997 | PLEKHG5 | c.2928C>G (p.Val976=) c.3102C>G (p.Val1034=) c.3039C>G (p.Val1013=) n.3404C>G c.3135C>G (p.Val1045=) c.3225C>G (p.Val1075=) c.*3140C>G (n.*3140C>G) c.2250-15C>G (n.2250-15C>G) c.*2756C>G (n.*2756C>G) c.801C>G (p.Val267=) c.2738-10C>G (n.2738-10C>G) c.2481-15C>G (n.2481-15C>G) c.3159C>G (p.Val1053=) c.3096C>G (p.Val1032=) n.2130C>G c.3165C>G (p.Val1055=) | |
1 | g.6467908G>T | CA416021996 | PLEKHG5 | c.2928C>A (p.Val976=) c.3102C>A (p.Val1034=) c.3039C>A (p.Val1013=) n.3404C>A c.3135C>A (p.Val1045=) c.3225C>A (p.Val1075=) c.*3140C>A (n.*3140C>A) c.2250-15C>A (n.2250-15C>A) c.*2756C>A (n.*2756C>A) c.801C>A (p.Val267=) c.2738-10C>A (n.2738-10C>A) c.2481-15C>A (n.2481-15C>A) c.3159C>A (p.Val1053=) c.3096C>A (p.Val1032=) n.2130C>A c.3165C>A (p.Val1055=) | |
1 | g.6467909del | CA2642996096 | PLEKHG5 | c.2927del (p.Val976AlafsTer8) c.3101del (p.Val1034AlafsTer8) c.3038del (p.Val1013AlafsTer8) n.3403del c.3134del (p.Val1045AlafsTer8) c.3224del (p.Val1075AlafsTer8) c.*3139del (n.*3139del) c.2250-16del (n.2250-16del) c.*2755del (n.*2755del) c.800del (p.Val267AlafsTer8) c.2738-11del (n.2738-11del) c.2481-16del (n.2481-16del) c.3158del (p.Val1053AlafsTer8) c.3095del (p.Val1032AlafsTer8) n.2129del c.3164del (p.Val1055AlafsTer8) | gnomAD v4 |
1 | g.6467909A>C | CA338113895 | PLEKHG5 | c.2927T>G (p.Val976Gly) c.3101T>G (p.Val1034Gly) c.3038T>G (p.Val1013Gly) n.3403T>G c.3134T>G (p.Val1045Gly) c.3224T>G (p.Val1075Gly) c.*3139T>G (n.*3139T>G) c.2250-16T>G (n.2250-16T>G) c.*2755T>G (n.*2755T>G) c.800T>G (p.Val267Gly) c.2738-11T>G (n.2738-11T>G) c.2481-16T>G (n.2481-16T>G) c.3158T>G (p.Val1053Gly) c.3095T>G (p.Val1032Gly) n.2129T>G c.3164T>G (p.Val1055Gly) | |
1 | g.6467909A>G | CA338113899 | PLEKHG5 | c.2927T>C (p.Val976Ala) c.3101T>C (p.Val1034Ala) c.3038T>C (p.Val1013Ala) n.3403T>C c.3134T>C (p.Val1045Ala) c.3224T>C (p.Val1075Ala) c.*3139T>C (n.*3139T>C) c.2250-16T>C (n.2250-16T>C) c.*2755T>C (n.*2755T>C) c.800T>C (p.Val267Ala) c.2738-11T>C (n.2738-11T>C) c.2481-16T>C (n.2481-16T>C) c.3158T>C (p.Val1053Ala) c.3095T>C (p.Val1032Ala) n.2129T>C c.3164T>C (p.Val1055Ala) | |
1 | g.6467909A>T | CA338113901 | PLEKHG5 | c.2927T>A (p.Val976Asp) c.3101T>A (p.Val1034Asp) c.3038T>A (p.Val1013Asp) n.3403T>A c.3134T>A (p.Val1045Asp) c.3224T>A (p.Val1075Asp) c.*3139T>A (n.*3139T>A) c.2250-16T>A (n.2250-16T>A) c.*2755T>A (n.*2755T>A) c.800T>A (p.Val267Asp) c.2738-11T>A (n.2738-11T>A) c.2481-16T>A (n.2481-16T>A) c.3158T>A (p.Val1053Asp) c.3095T>A (p.Val1032Asp) n.2129T>A c.3164T>A (p.Val1055Asp) | |
1 | g.6467909_6467910delinsAC | CA1151516466 | PLEKHG5 | c.2926_2927delinsGT (p.Val976=) c.3100_3101delinsGT (p.Val1034=) c.3037_3038delinsGT (p.Val1013=) n.3402_3403delinsGT c.3133_3134delinsGT (p.Val1045=) c.3223_3224delinsGT (p.Val1075=) c.*3138_*3139delinsGT (n.*3138_*3139delinsGT) c.2250-17_2250-16delinsGT (n.2250-17_2250-16delinsGT) c.*2754_*2755delinsGT (n.*2754_*2755delinsGT) c.799_800delinsGT (p.Val267=) c.2738-12_2738-11delinsGT (n.2738-12_2738-11delinsGT) c.2481-17_2481-16delinsGT (n.2481-17_2481-16delinsGT) c.3157_3158delinsGT (p.Val1053=) c.3094_3095delinsGT (p.Val1032=) n.2128_2129delinsGT c.3163_3164delinsGT (p.Val1055=) | |
1 | g.6467910C>A | CA338113910 | PLEKHG5 | c.2926G>T (p.Val976Phe) c.3100G>T (p.Val1034Phe) c.3037G>T (p.Val1013Phe) n.3402G>T c.3133G>T (p.Val1045Phe) c.3223G>T (p.Val1075Phe) c.*3138G>T (n.*3138G>T) c.2250-17G>T (n.2250-17G>T) c.*2754G>T (n.*2754G>T) c.799G>T (p.Val267Phe) c.2738-12G>T (n.2738-12G>T) c.2481-17G>T (n.2481-17G>T) c.3157G>T (p.Val1053Phe) c.3094G>T (p.Val1032Phe) n.2128G>T c.3163G>T (p.Val1055Phe) | dbSNP gnomAD v4 |
1 | g.6467910C= | CA1151516470 | PLEKHG5 | c.2926G= (p.Val976=) c.3100G= (p.Val1034=) c.3037G= (p.Val1013=) n.3402G= c.3133G= (p.Val1045=) c.3223G= (p.Val1075=) c.*3138G= (n.*3138G=) c.2250-17G= (n.2250-17G=) c.*2754G= (n.*2754G=) c.799G= (p.Val267=) c.2738-12G= (n.2738-12G=) c.2481-17G= (n.2481-17G=) c.3157G= (p.Val1053=) c.3094G= (p.Val1032=) n.2128G= c.3163G= (p.Val1055=) | |
1 | g.6467910C>G | CA338113915 | PLEKHG5 | c.2926G>C (p.Val976Leu) c.3100G>C (p.Val1034Leu) c.3037G>C (p.Val1013Leu) n.3402G>C c.3133G>C (p.Val1045Leu) c.3223G>C (p.Val1075Leu) c.*3138G>C (n.*3138G>C) c.2250-17G>C (n.2250-17G>C) c.*2754G>C (n.*2754G>C) c.799G>C (p.Val267Leu) c.2738-12G>C (n.2738-12G>C) c.2481-17G>C (n.2481-17G>C) c.3157G>C (p.Val1053Leu) c.3094G>C (p.Val1032Leu) n.2128G>C c.3163G>C (p.Val1055Leu) | |
1 | g.6467910C>T | CA338113919 | PLEKHG5 | c.2926G>A (p.Val976Ile) c.3100G>A (p.Val1034Ile) c.3037G>A (p.Val1013Ile) n.3402G>A c.3133G>A (p.Val1045Ile) c.3223G>A (p.Val1075Ile) c.*3138G>A (n.*3138G>A) c.2250-17G>A (n.2250-17G>A) c.*2754G>A (n.*2754G>A) c.799G>A (p.Val267Ile) c.2738-12G>A (n.2738-12G>A) c.2481-17G>A (n.2481-17G>A) c.3157G>A (p.Val1053Ile) c.3094G>A (p.Val1032Ile) n.2128G>A c.3163G>A (p.Val1055Ile) | |
1 | g.6467913del | CA521018444 | PLEKHG5 | c.2926del (p.Val976SerfsTer8) c.3100del (p.Val1034SerfsTer8) c.3037del (p.Val1013SerfsTer8) n.3402del c.3133del (p.Val1045SerfsTer8) c.3223del (p.Val1075SerfsTer8) c.*3138del (n.*3138del) c.2250-17del (n.2250-17del) c.*2754del (n.*2754del) c.799del (p.Val267SerfsTer8) c.2738-12del (n.2738-12del) c.2481-17del (n.2481-17del) c.3157del (p.Val1053SerfsTer8) c.3094del (p.Val1032SerfsTer8) n.2128del c.3163del (p.Val1055SerfsTer8) | dbSNP gnomAD v2 |
1 | g.6467914_6467949del | CA2642996097 | PLEKHG5 | c.2891_2926del (p.Ala964_Gly975del) c.3065_3100del (p.Ala1022_Gly1033del) c.3002_3037del (p.Ala1001_Gly1012del) n.3367_3402del c.3098_3133del (p.Ala1033_Gly1044del) c.3188_3223del (p.Ala1063_Gly1074del) c.*3103_*3138del (n.*3103_*3138del) c.2250-52_2250-17del (n.2250-52_2250-17del) c.*2719_*2754del (n.*2719_*2754del) c.764_799del (p.Ala255_Gly266del) c.2738-47_2738-12del (n.2738-47_2738-12del) c.2481-52_2481-17del (n.2481-52_2481-17del) c.3122_3157del (p.Ala1041_Gly1052del) c.3059_3094del (p.Ala1020_Gly1031del) n.2093_2128del c.3128_3163del (p.Ala1043_Gly1054del) | gnomAD v4 |
1 | g.6467911C>A | CA561063 | PLEKHG5 | c.2925G>T (p.Gly975=) c.3099G>T (p.Gly1033=) c.3036G>T (p.Gly1012=) n.3401G>T c.3132G>T (p.Gly1044=) c.3222G>T (p.Gly1074=) c.*3137G>T (n.*3137G>T) c.2250-18G>T (n.2250-18G>T) c.*2753G>T (n.*2753G>T) c.798G>T (p.Gly266=) c.2738-13G>T (n.2738-13G>T) c.2481-18G>T (n.2481-18G>T) c.3156G>T (p.Gly1052=) c.3093G>T (p.Gly1031=) n.2127G>T c.3162G>T (p.Gly1054=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.6467911C= | CA1144722627 | PLEKHG5 | c.2925G= (p.Gly975=) c.3099G= (p.Gly1033=) c.3036G= (p.Gly1012=) n.3401G= c.3132G= (p.Gly1044=) c.3222G= (p.Gly1074=) c.*3137G= (n.*3137G=) c.2250-18G= (n.2250-18G=) c.*2753G= (n.*2753G=) c.798G= (p.Gly266=) c.2738-13G= (n.2738-13G=) c.2481-18G= (n.2481-18G=) c.3156G= (p.Gly1052=) c.3093G= (p.Gly1031=) n.2127G= c.3162G= (p.Gly1054=) | |
1 | g.6467911C>G | CA416021998 | PLEKHG5 | c.2925G>C (p.Gly975=) c.3099G>C (p.Gly1033=) c.3036G>C (p.Gly1012=) n.3401G>C c.3132G>C (p.Gly1044=) c.3222G>C (p.Gly1074=) c.*3137G>C (n.*3137G>C) c.2250-18G>C (n.2250-18G>C) c.*2753G>C (n.*2753G>C) c.798G>C (p.Gly266=) c.2738-13G>C (n.2738-13G>C) c.2481-18G>C (n.2481-18G>C) c.3156G>C (p.Gly1052=) c.3093G>C (p.Gly1031=) n.2127G>C c.3162G>C (p.Gly1054=) | |
1 | g.6467911C>T | CA416021999 | PLEKHG5 | c.2925G>A (p.Gly975=) c.3099G>A (p.Gly1033=) c.3036G>A (p.Gly1012=) n.3401G>A c.3132G>A (p.Gly1044=) c.3222G>A (p.Gly1074=) c.*3137G>A (n.*3137G>A) c.2250-18G>A (n.2250-18G>A) c.*2753G>A (n.*2753G>A) c.798G>A (p.Gly266=) c.2738-13G>A (n.2738-13G>A) c.2481-18G>A (n.2481-18G>A) c.3156G>A (p.Gly1052=) c.3093G>A (p.Gly1031=) n.2127G>A c.3162G>A (p.Gly1054=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
1 | g.6467912C>A | CA338113928 | PLEKHG5 | c.2924G>T (p.Gly975Val) c.3098G>T (p.Gly1033Val) c.3035G>T (p.Gly1012Val) n.3400G>T c.3131G>T (p.Gly1044Val) c.3221G>T (p.Gly1074Val) c.*3136G>T (n.*3136G>T) c.2250-19G>T (n.2250-19G>T) c.*2752G>T (n.*2752G>T) c.797G>T (p.Gly266Val) c.2738-14G>T (n.2738-14G>T) c.2481-19G>T (n.2481-19G>T) c.3155G>T (p.Gly1052Val) c.3092G>T (p.Gly1031Val) n.2126G>T c.3161G>T (p.Gly1054Val) | gnomAD v4 |
1 | g.6467912C= | CA1151516476 | PLEKHG5 | c.2924G= (p.Gly975=) c.3098G= (p.Gly1033=) c.3035G= (p.Gly1012=) n.3400G= c.3131G= (p.Gly1044=) c.3221G= (p.Gly1074=) c.*3136G= (n.*3136G=) c.2250-19G= (n.2250-19G=) c.*2752G= (n.*2752G=) c.797G= (p.Gly266=) c.2738-14G= (n.2738-14G=) c.2481-19G= (n.2481-19G=) c.3155G= (p.Gly1052=) c.3092G= (p.Gly1031=) n.2126G= c.3161G= (p.Gly1054=) | |
1 | g.6467912C>G | CA338113931 | PLEKHG5 | c.2924G>C (p.Gly975Ala) c.3098G>C (p.Gly1033Ala) c.3035G>C (p.Gly1012Ala) n.3400G>C c.3131G>C (p.Gly1044Ala) c.3221G>C (p.Gly1074Ala) c.*3136G>C (n.*3136G>C) c.2250-19G>C (n.2250-19G>C) c.*2752G>C (n.*2752G>C) c.797G>C (p.Gly266Ala) c.2738-14G>C (n.2738-14G>C) c.2481-19G>C (n.2481-19G>C) c.3155G>C (p.Gly1052Ala) c.3092G>C (p.Gly1031Ala) n.2126G>C c.3161G>C (p.Gly1054Ala) | |
1 | g.6467912C>T | CA17233257 | PLEKHG5 | c.2924G>A (p.Gly975Glu) c.3098G>A (p.Gly1033Glu) c.3035G>A (p.Gly1012Glu) n.3400G>A c.3131G>A (p.Gly1044Glu) c.3221G>A (p.Gly1074Glu) c.*3136G>A (n.*3136G>A) c.2250-19G>A (n.2250-19G>A) c.*2752G>A (n.*2752G>A) c.797G>A (p.Gly266Glu) c.2738-14G>A (n.2738-14G>A) c.2481-19G>A (n.2481-19G>A) c.3155G>A (p.Gly1052Glu) c.3092G>A (p.Gly1031Glu) n.2126G>A c.3161G>A (p.Gly1054Glu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.6467913C>A | CA338113936 | PLEKHG5 | c.2923G>T (p.Gly975Trp) c.3097G>T (p.Gly1033Trp) c.3034G>T (p.Gly1012Trp) n.3399G>T c.3130G>T (p.Gly1044Trp) c.3220G>T (p.Gly1074Trp) c.*3135G>T (n.*3135G>T) c.2250-20G>T (n.2250-20G>T) c.*2751G>T (n.*2751G>T) c.796G>T (p.Gly266Trp) c.2738-15G>T (n.2738-15G>T) c.2481-20G>T (n.2481-20G>T) c.3154G>T (p.Gly1052Trp) c.3091G>T (p.Gly1031Trp) n.2125G>T c.3160G>T (p.Gly1054Trp) | gnomAD v4 |
1 | g.6467913C= | CA1151516482 | PLEKHG5 | c.2923G= (p.Gly975=) c.3097G= (p.Gly1033=) c.3034G= (p.Gly1012=) n.3399G= c.3130G= (p.Gly1044=) c.3220G= (p.Gly1074=) c.*3135G= (n.*3135G=) c.2250-20G= (n.2250-20G=) c.*2751G= (n.*2751G=) c.796G= (p.Gly266=) c.2738-15G= (n.2738-15G=) c.2481-20G= (n.2481-20G=) c.3154G= (p.Gly1052=) c.3091G= (p.Gly1031=) n.2125G= c.3160G= (p.Gly1054=) | |
1 | g.6467913C>G | CA561064 | PLEKHG5 | c.2923G>C (p.Gly975Arg) c.3097G>C (p.Gly1033Arg) c.3034G>C (p.Gly1012Arg) n.3399G>C c.3130G>C (p.Gly1044Arg) c.3220G>C (p.Gly1074Arg) c.*3135G>C (n.*3135G>C) c.2250-20G>C (n.2250-20G>C) c.*2751G>C (n.*2751G>C) c.796G>C (p.Gly266Arg) c.2738-15G>C (n.2738-15G>C) c.2481-20G>C (n.2481-20G>C) c.3154G>C (p.Gly1052Arg) c.3091G>C (p.Gly1031Arg) n.2125G>C c.3160G>C (p.Gly1054Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.6467913C>T | CA338113941 | PLEKHG5 | c.2923G>A (p.Gly975Arg) c.3097G>A (p.Gly1033Arg) c.3034G>A (p.Gly1012Arg) n.3399G>A c.3130G>A (p.Gly1044Arg) c.3220G>A (p.Gly1074Arg) c.*3135G>A (n.*3135G>A) c.2250-20G>A (n.2250-20G>A) c.*2751G>A (n.*2751G>A) c.796G>A (p.Gly266Arg) c.2738-15G>A (n.2738-15G>A) c.2481-20G>A (n.2481-20G>A) c.3154G>A (p.Gly1052Arg) c.3091G>A (p.Gly1031Arg) n.2125G>A c.3160G>A (p.Gly1054Arg) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.6467914T>A | CA416022000 | PLEKHG5 | c.2922A>T (p.Pro974=) c.3096A>T (p.Pro1032=) c.3033A>T (p.Pro1011=) n.3398A>T c.3129A>T (p.Pro1043=) c.3219A>T (p.Pro1073=) c.*3134A>T (n.*3134A>T) c.2250-21A>T (n.2250-21A>T) c.*2750A>T (n.*2750A>T) c.795A>T (p.Pro265=) c.2738-16A>T (n.2738-16A>T) c.2481-21A>T (n.2481-21A>T) c.3153A>T (p.Pro1051=) c.3090A>T (p.Pro1030=) n.2124A>T c.3159A>T (p.Pro1053=) | |
1 | g.6467914T>C | CA416022001 | PLEKHG5 | c.2922A>G (p.Pro974=) c.3096A>G (p.Pro1032=) c.3033A>G (p.Pro1011=) n.3398A>G c.3129A>G (p.Pro1043=) c.3219A>G (p.Pro1073=) c.*3134A>G (n.*3134A>G) c.2250-21A>G (n.2250-21A>G) c.*2750A>G (n.*2750A>G) c.795A>G (p.Pro265=) c.2738-16A>G (n.2738-16A>G) c.2481-21A>G (n.2481-21A>G) c.3153A>G (p.Pro1051=) c.3090A>G (p.Pro1030=) n.2124A>G c.3159A>G (p.Pro1053=) | gnomAD v4 |
1 | g.6467914T>G | CA416022002 | PLEKHG5 | c.2922A>C (p.Pro974=) c.3096A>C (p.Pro1032=) c.3033A>C (p.Pro1011=) n.3398A>C c.3129A>C (p.Pro1043=) c.3219A>C (p.Pro1073=) c.*3134A>C (n.*3134A>C) c.2250-21A>C (n.2250-21A>C) c.*2750A>C (n.*2750A>C) c.795A>C (p.Pro265=) c.2738-16A>C (n.2738-16A>C) c.2481-21A>C (n.2481-21A>C) c.3153A>C (p.Pro1051=) c.3090A>C (p.Pro1030=) n.2124A>C c.3159A>C (p.Pro1053=) | |
1 | g.6467914_6467924del | CA2642996098 | PLEKHG5 | c.2912_2922del (p.Glu971GlyfsTer24) c.3086_3096del (p.Glu1029GlyfsTer24) c.3023_3033del (p.Glu1008GlyfsTer24) n.3388_3398del c.3119_3129del (p.Glu1040GlyfsTer24) c.3209_3219del (p.Glu1070GlyfsTer24) c.*3124_*3134del (n.*3124_*3134del) c.2250-31_2250-21del (n.2250-31_2250-21del) c.*2740_*2750del (n.*2740_*2750del) c.785_795del (p.Glu262GlyfsTer24) c.2738-26_2738-16del (n.2738-26_2738-16del) c.2481-31_2481-21del (n.2481-31_2481-21del) c.3143_3153del (p.Glu1048GlyfsTer24) c.3080_3090del (p.Glu1027GlyfsTer24) n.2114_2124del c.3149_3159del (p.Glu1050GlyfsTer24) | gnomAD v4 |
1 | g.6467915G>A | CA338113942 | PLEKHG5 | c.2921C>T (p.Pro974Leu) c.3095C>T (p.Pro1032Leu) c.3032C>T (p.Pro1011Leu) n.3397C>T c.3128C>T (p.Pro1043Leu) c.3218C>T (p.Pro1073Leu) c.*3133C>T (n.*3133C>T) c.2250-22C>T (n.2250-22C>T) c.*2749C>T (n.*2749C>T) c.794C>T (p.Pro265Leu) c.2738-17C>T (n.2738-17C>T) c.2481-22C>T (n.2481-22C>T) c.3152C>T (p.Pro1051Leu) c.3089C>T (p.Pro1030Leu) n.2123C>T c.3158C>T (p.Pro1053Leu) | |
1 | g.6467915G>C | CA338113947 | PLEKHG5 | c.2921C>G (p.Pro974Arg) c.3095C>G (p.Pro1032Arg) c.3032C>G (p.Pro1011Arg) n.3397C>G c.3128C>G (p.Pro1043Arg) c.3218C>G (p.Pro1073Arg) c.*3133C>G (n.*3133C>G) c.2250-22C>G (n.2250-22C>G) c.*2749C>G (n.*2749C>G) c.794C>G (p.Pro265Arg) c.2738-17C>G (n.2738-17C>G) c.2481-22C>G (n.2481-22C>G) c.3152C>G (p.Pro1051Arg) c.3089C>G (p.Pro1030Arg) n.2123C>G c.3158C>G (p.Pro1053Arg) | |
1 | g.6467915G>T | CA338113943 | PLEKHG5 | c.2921C>A (p.Pro974Gln) c.3095C>A (p.Pro1032Gln) c.3032C>A (p.Pro1011Gln) n.3397C>A c.3128C>A (p.Pro1043Gln) c.3218C>A (p.Pro1073Gln) c.*3133C>A (n.*3133C>A) c.2250-22C>A (n.2250-22C>A) c.*2749C>A (n.*2749C>A) c.794C>A (p.Pro265Gln) c.2738-17C>A (n.2738-17C>A) c.2481-22C>A (n.2481-22C>A) c.3152C>A (p.Pro1051Gln) c.3089C>A (p.Pro1030Gln) n.2123C>A c.3158C>A (p.Pro1053Gln) | |
1 | g.6467916G>A | CA561065 | PLEKHG5 | c.2920C>T (p.Pro974Ser) c.3094C>T (p.Pro1032Ser) c.3031C>T (p.Pro1011Ser) n.3396C>T c.3127C>T (p.Pro1043Ser) c.3217C>T (p.Pro1073Ser) c.*3132C>T (n.*3132C>T) c.2250-23C>T (n.2250-23C>T) c.*2748C>T (n.*2748C>T) c.793C>T (p.Pro265Ser) c.2738-18C>T (n.2738-18C>T) c.2481-23C>T (n.2481-23C>T) c.3151C>T (p.Pro1051Ser) c.3088C>T (p.Pro1030Ser) n.2122C>T c.3157C>T (p.Pro1053Ser) | dbSNP ExAC gnomAD v4 |
1 | g.6467916G>C | CA338113964 | PLEKHG5 | c.2920C>G (p.Pro974Ala) c.3094C>G (p.Pro1032Ala) c.3031C>G (p.Pro1011Ala) n.3396C>G c.3127C>G (p.Pro1043Ala) c.3217C>G (p.Pro1073Ala) c.*3132C>G (n.*3132C>G) c.2250-23C>G (n.2250-23C>G) c.*2748C>G (n.*2748C>G) c.793C>G (p.Pro265Ala) c.2738-18C>G (n.2738-18C>G) c.2481-23C>G (n.2481-23C>G) c.3151C>G (p.Pro1051Ala) c.3088C>G (p.Pro1030Ala) n.2122C>G c.3157C>G (p.Pro1053Ala) | |
1 | g.6467916G= | CA1151516487 | PLEKHG5 | c.2920C= (p.Pro974=) c.3094C= (p.Pro1032=) c.3031C= (p.Pro1011=) n.3396C= c.3127C= (p.Pro1043=) c.3217C= (p.Pro1073=) c.*3132C= (n.*3132C=) c.2250-23C= (n.2250-23C=) c.*2748C= (n.*2748C=) c.793C= (p.Pro265=) c.2738-18C= (n.2738-18C=) c.2481-23C= (n.2481-23C=) c.3151C= (p.Pro1051=) c.3088C= (p.Pro1030=) n.2122C= c.3157C= (p.Pro1053=) | |
1 | g.6467916G>T | CA338113969 | PLEKHG5 | c.2920C>A (p.Pro974Thr) c.3094C>A (p.Pro1032Thr) c.3031C>A (p.Pro1011Thr) n.3396C>A c.3127C>A (p.Pro1043Thr) c.3217C>A (p.Pro1073Thr) c.*3132C>A (n.*3132C>A) c.2250-23C>A (n.2250-23C>A) c.*2748C>A (n.*2748C>A) c.793C>A (p.Pro265Thr) c.2738-18C>A (n.2738-18C>A) c.2481-23C>A (n.2481-23C>A) c.3151C>A (p.Pro1051Thr) c.3088C>A (p.Pro1030Thr) n.2122C>A c.3157C>A (p.Pro1053Thr) | |
1 | g.6467917del | CA2642996099 | PLEKHG5 | c.2919del (p.Pro974GlnfsTer10) c.3093del (p.Pro1032GlnfsTer10) c.3030del (p.Pro1011GlnfsTer10) n.3395del c.3126del (p.Pro1043GlnfsTer10) c.3216del (p.Pro1073GlnfsTer10) c.*3131del (n.*3131del) c.2250-24del (n.2250-24del) c.*2747del (n.*2747del) c.792del (p.Pro265GlnfsTer10) c.2738-19del (n.2738-19del) c.2481-24del (n.2481-24del) c.3150del (p.Pro1051GlnfsTer10) c.3087del (p.Pro1030GlnfsTer10) n.2121del c.3156del (p.Pro1053GlnfsTer10) | gnomAD v4 |
1 | g.6467917T>A | CA416022003 | PLEKHG5 | c.2919A>T (p.Pro973=) c.3093A>T (p.Pro1031=) c.3030A>T (p.Pro1010=) n.3395A>T c.3126A>T (p.Pro1042=) c.3216A>T (p.Pro1072=) c.*3131A>T (n.*3131A>T) c.2250-24A>T (n.2250-24A>T) c.*2747A>T (n.*2747A>T) c.792A>T (p.Pro264=) c.2738-19A>T (n.2738-19A>T) c.2481-24A>T (n.2481-24A>T) c.3150A>T (p.Pro1050=) c.3087A>T (p.Pro1029=) n.2121A>T c.3156A>T (p.Pro1052=) | |
1 | g.6467917T>C | CA416022004 | PLEKHG5 | c.2919A>G (p.Pro973=) c.3093A>G (p.Pro1031=) c.3030A>G (p.Pro1010=) n.3395A>G c.3126A>G (p.Pro1042=) c.3216A>G (p.Pro1072=) c.*3131A>G (n.*3131A>G) c.2250-24A>G (n.2250-24A>G) c.*2747A>G (n.*2747A>G) c.792A>G (p.Pro264=) c.2738-19A>G (n.2738-19A>G) c.2481-24A>G (n.2481-24A>G) c.3150A>G (p.Pro1050=) c.3087A>G (p.Pro1029=) n.2121A>G c.3156A>G (p.Pro1052=) | |
1 | g.6467917T>G | CA416022005 | PLEKHG5 | c.2919A>C (p.Pro973=) c.3093A>C (p.Pro1031=) c.3030A>C (p.Pro1010=) n.3395A>C c.3126A>C (p.Pro1042=) c.3216A>C (p.Pro1072=) c.*3131A>C (n.*3131A>C) c.2250-24A>C (n.2250-24A>C) c.*2747A>C (n.*2747A>C) c.792A>C (p.Pro264=) c.2738-19A>C (n.2738-19A>C) c.2481-24A>C (n.2481-24A>C) c.3150A>C (p.Pro1050=) c.3087A>C (p.Pro1029=) n.2121A>C c.3156A>C (p.Pro1052=) | |
1 | g.6467918G>A | CA338113975 | PLEKHG5 | c.2918C>T (p.Pro973Leu) c.3092C>T (p.Pro1031Leu) c.3029C>T (p.Pro1010Leu) n.3394C>T c.3125C>T (p.Pro1042Leu) c.3215C>T (p.Pro1072Leu) c.*3130C>T (n.*3130C>T) c.2250-25C>T (n.2250-25C>T) c.*2746C>T (n.*2746C>T) c.791C>T (p.Pro264Leu) c.2738-20C>T (n.2738-20C>T) c.2481-25C>T (n.2481-25C>T) c.3149C>T (p.Pro1050Leu) c.3086C>T (p.Pro1029Leu) n.2120C>T c.3155C>T (p.Pro1052Leu) | |
1 | g.6467918G>C | CA338113979 | PLEKHG5 | c.2918C>G (p.Pro973Arg) c.3092C>G (p.Pro1031Arg) c.3029C>G (p.Pro1010Arg) n.3394C>G c.3125C>G (p.Pro1042Arg) c.3215C>G (p.Pro1072Arg) c.*3130C>G (n.*3130C>G) c.2250-25C>G (n.2250-25C>G) c.*2746C>G (n.*2746C>G) c.791C>G (p.Pro264Arg) c.2738-20C>G (n.2738-20C>G) c.2481-25C>G (n.2481-25C>G) c.3149C>G (p.Pro1050Arg) c.3086C>G (p.Pro1029Arg) n.2120C>G c.3155C>G (p.Pro1052Arg) | dbSNP gnomAD v4 |
1 | g.6467918G= | CA1151516493 | PLEKHG5 | c.2918C= (p.Pro973=) c.3092C= (p.Pro1031=) c.3029C= (p.Pro1010=) n.3394C= c.3125C= (p.Pro1042=) c.3215C= (p.Pro1072=) c.*3130C= (n.*3130C=) c.2250-25C= (n.2250-25C=) c.*2746C= (n.*2746C=) c.791C= (p.Pro264=) c.2738-20C= (n.2738-20C=) c.2481-25C= (n.2481-25C=) c.3149C= (p.Pro1050=) c.3086C= (p.Pro1029=) n.2120C= c.3155C= (p.Pro1052=) | |
1 | g.6467918G>T | CA338113985 | PLEKHG5 | c.2918C>A (p.Pro973Gln) c.3092C>A (p.Pro1031Gln) c.3029C>A (p.Pro1010Gln) n.3394C>A c.3125C>A (p.Pro1042Gln) c.3215C>A (p.Pro1072Gln) c.*3130C>A (n.*3130C>A) c.2250-25C>A (n.2250-25C>A) c.*2746C>A (n.*2746C>A) c.791C>A (p.Pro264Gln) c.2738-20C>A (n.2738-20C>A) c.2481-25C>A (n.2481-25C>A) c.3149C>A (p.Pro1050Gln) c.3086C>A (p.Pro1029Gln) n.2120C>A c.3155C>A (p.Pro1052Gln) | ClinVar gnomAD v4 |
1 | g.6467922dup | CA2642996100 | PLEKHG5 | c.2918dup (p.Pro974ThrfsTer25) c.3092dup (p.Pro1032ThrfsTer25) c.3029dup (p.Pro1011ThrfsTer25) n.3394dup c.3125dup (p.Pro1043ThrfsTer25) c.3215dup (p.Pro1073ThrfsTer25) c.*3130dup (n.*3130dup) c.2250-25dup (n.2250-25dup) c.*2746dup (n.*2746dup) c.791dup (p.Pro265ThrfsTer25) c.2738-20dup (n.2738-20dup) c.2481-25dup (n.2481-25dup) c.3149dup (p.Pro1051ThrfsTer25) c.3086dup (p.Pro1030ThrfsTer25) n.2120dup c.3155dup (p.Pro1053ThrfsTer25) | gnomAD v4 |
1 | g.6467919G>A | CA338113988 | PLEKHG5 | c.2917C>T (p.Pro973Ser) c.3091C>T (p.Pro1031Ser) c.3028C>T (p.Pro1010Ser) n.3393C>T c.3124C>T (p.Pro1042Ser) c.3214C>T (p.Pro1072Ser) c.*3129C>T (n.*3129C>T) c.2250-26C>T (n.2250-26C>T) c.*2745C>T (n.*2745C>T) c.790C>T (p.Pro264Ser) c.2738-21C>T (n.2738-21C>T) c.2481-26C>T (n.2481-26C>T) c.3148C>T (p.Pro1050Ser) c.3085C>T (p.Pro1029Ser) n.2119C>T c.3154C>T (p.Pro1052Ser) | |
1 | g.6467919G>C | CA338113989 | PLEKHG5 | c.2917C>G (p.Pro973Ala) c.3091C>G (p.Pro1031Ala) c.3028C>G (p.Pro1010Ala) n.3393C>G c.3124C>G (p.Pro1042Ala) c.3214C>G (p.Pro1072Ala) c.*3129C>G (n.*3129C>G) c.2250-26C>G (n.2250-26C>G) c.*2745C>G (n.*2745C>G) c.790C>G (p.Pro264Ala) c.2738-21C>G (n.2738-21C>G) c.2481-26C>G (n.2481-26C>G) c.3148C>G (p.Pro1050Ala) c.3085C>G (p.Pro1029Ala) n.2119C>G c.3154C>G (p.Pro1052Ala) | |
1 | g.6467919G>T | CA338113990 | PLEKHG5 | c.2917C>A (p.Pro973Thr) c.3091C>A (p.Pro1031Thr) c.3028C>A (p.Pro1010Thr) n.3393C>A c.3124C>A (p.Pro1042Thr) c.3214C>A (p.Pro1072Thr) c.*3129C>A (n.*3129C>A) c.2250-26C>A (n.2250-26C>A) c.*2745C>A (n.*2745C>A) c.790C>A (p.Pro264Thr) c.2738-21C>A (n.2738-21C>A) c.2481-26C>A (n.2481-26C>A) c.3148C>A (p.Pro1050Thr) c.3085C>A (p.Pro1029Thr) n.2119C>A c.3154C>A (p.Pro1052Thr) | gnomAD v4 |
1 | g.6467920G>A | CA416022006 | PLEKHG5 | c.2916C>T (p.Pro972=) c.3090C>T (p.Pro1030=) c.3027C>T (p.Pro1009=) n.3392C>T c.3123C>T (p.Pro1041=) c.3213C>T (p.Pro1071=) c.*3128C>T (n.*3128C>T) c.2250-27C>T (n.2250-27C>T) c.*2744C>T (n.*2744C>T) c.789C>T (p.Pro263=) c.2738-22C>T (n.2738-22C>T) c.2481-27C>T (n.2481-27C>T) c.3147C>T (p.Pro1049=) c.3084C>T (p.Pro1028=) n.2118C>T c.3153C>T (p.Pro1051=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.6467920G>C | CA17233287 | PLEKHG5 | c.2916C>G (p.Pro972=) c.3090C>G (p.Pro1030=) c.3027C>G (p.Pro1009=) n.3392C>G c.3123C>G (p.Pro1041=) c.3213C>G (p.Pro1071=) c.*3128C>G (n.*3128C>G) c.2250-27C>G (n.2250-27C>G) c.*2744C>G (n.*2744C>G) c.789C>G (p.Pro263=) c.2738-22C>G (n.2738-22C>G) c.2481-27C>G (n.2481-27C>G) c.3147C>G (p.Pro1049=) c.3084C>G (p.Pro1028=) n.2118C>G c.3153C>G (p.Pro1051=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.6467920G= | CA1151516500 | PLEKHG5 | c.2916C= (p.Pro972=) c.3090C= (p.Pro1030=) c.3027C= (p.Pro1009=) n.3392C= c.3123C= (p.Pro1041=) c.3213C= (p.Pro1071=) c.*3128C= (n.*3128C=) c.2250-27C= (n.2250-27C=) c.*2744C= (n.*2744C=) c.789C= (p.Pro263=) c.2738-22C= (n.2738-22C=) c.2481-27C= (n.2481-27C=) c.3147C= (p.Pro1049=) c.3084C= (p.Pro1028=) n.2118C= c.3153C= (p.Pro1051=) | |
1 | g.6467920G>T | CA416022007 | PLEKHG5 | c.2916C>A (p.Pro972=) c.3090C>A (p.Pro1030=) c.3027C>A (p.Pro1009=) n.3392C>A c.3123C>A (p.Pro1041=) c.3213C>A (p.Pro1071=) c.*3128C>A (n.*3128C>A) c.2250-27C>A (n.2250-27C>A) c.*2744C>A (n.*2744C>A) c.789C>A (p.Pro263=) c.2738-22C>A (n.2738-22C>A) c.2481-27C>A (n.2481-27C>A) c.3147C>A (p.Pro1049=) c.3084C>A (p.Pro1028=) n.2118C>A c.3153C>A (p.Pro1051=) | gnomAD v4 |
1 | g.6467920_6467943delinsGGGCTCAGGCTGGACCCTGGGAGA | CA1151516504 | PLEKHG5 | c.2893_2916delinsTCTCCCAGGGTCCAGCCTGAGCCC (p.Ser965=) c.3067_3090delinsTCTCCCAGGGTCCAGCCTGAGCCC (p.Ser1023=) c.3004_3027delinsTCTCCCAGGGTCCAGCCTGAGCCC (p.Ser1002=) n.3369_3392delinsTCTCCCAGGGTCCAGCCTGAGCCC c.3100_3123delinsTCTCCCAGGGTCCAGCCTGAGCCC (p.Ser1034=) c.3190_3213delinsTCTCCCAGGGTCCAGCCTGAGCCC (p.Ser1064=) c.*3105_*3128delinsTCTCCCAGGGTCCAGCCTGAGCCC (n.*3105_*3128delinsTCTCCCAGGGTCCAGCCTGAGCCC) c.2250-50_2250-27delinsTCTCCCAGGGTCCAGCCTGAGCCC (n.2250-50_2250-27delinsTCTCCCAGGGTCCAGCCTGAGCCC) c.*2721_*2744delinsTCTCCCAGGGTCCAGCCTGAGCCC (n.*2721_*2744delinsTCTCCCAGGGTCCAGCCTGAGCCC) c.766_789delinsTCTCCCAGGGTCCAGCCTGAGCCC (p.Ser256=) c.2738-45_2738-22delinsTCTCCCAGGGTCCAGCCTGAGCCC (n.2738-45_2738-22delinsTCTCCCAGGGTCCAGCCTGAGCCC) c.2481-50_2481-27delinsTCTCCCAGGGTCCAGCCTGAGCCC (n.2481-50_2481-27delinsTCTCCCAGGGTCCAGCCTGAGCCC) c.3124_3147delinsTCTCCCAGGGTCCAGCCTGAGCCC (p.Ser1042=) c.3061_3084delinsTCTCCCAGGGTCCAGCCTGAGCCC (p.Ser1021=) n.2095_2118delinsTCTCCCAGGGTCCAGCCTGAGCCC c.3130_3153delinsTCTCCCAGGGTCCAGCCTGAGCCC (p.Ser1044=) | |
1 | g.6467921G>A | CA338113991 | PLEKHG5 | c.2915C>T (p.Pro972Leu) c.3089C>T (p.Pro1030Leu) c.3026C>T (p.Pro1009Leu) n.3391C>T c.3122C>T (p.Pro1041Leu) c.3212C>T (p.Pro1071Leu) c.*3127C>T (n.*3127C>T) c.2250-28C>T (n.2250-28C>T) c.*2743C>T (n.*2743C>T) c.788C>T (p.Pro263Leu) c.2738-23C>T (n.2738-23C>T) c.2481-28C>T (n.2481-28C>T) c.3146C>T (p.Pro1049Leu) c.3083C>T (p.Pro1028Leu) n.2117C>T c.3152C>T (p.Pro1051Leu) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC |
1 | g.6467921G>C | CA17233288 | PLEKHG5 | c.2915C>G (p.Pro972Arg) c.3089C>G (p.Pro1030Arg) c.3026C>G (p.Pro1009Arg) n.3391C>G c.3122C>G (p.Pro1041Arg) c.3212C>G (p.Pro1071Arg) c.*3127C>G (n.*3127C>G) c.2250-28C>G (n.2250-28C>G) c.*2743C>G (n.*2743C>G) c.788C>G (p.Pro263Arg) c.2738-23C>G (n.2738-23C>G) c.2481-28C>G (n.2481-28C>G) c.3146C>G (p.Pro1049Arg) c.3083C>G (p.Pro1028Arg) n.2117C>G c.3152C>G (p.Pro1051Arg) | ClinVar dbSNP gnomAD v4 |
1 | g.6467921G= | CA1151516516 | PLEKHG5 | c.2915C= (p.Pro972=) c.3089C= (p.Pro1030=) c.3026C= (p.Pro1009=) n.3391C= c.3122C= (p.Pro1041=) c.3212C= (p.Pro1071=) c.*3127C= (n.*3127C=) c.2250-28C= (n.2250-28C=) c.*2743C= (n.*2743C=) c.788C= (p.Pro263=) c.2738-23C= (n.2738-23C=) c.2481-28C= (n.2481-28C=) c.3146C= (p.Pro1049=) c.3083C= (p.Pro1028=) n.2117C= c.3152C= (p.Pro1051=) | |
1 | g.6467921G>T | CA561066 | PLEKHG5 | c.2915C>A (p.Pro972His) c.3089C>A (p.Pro1030His) c.3026C>A (p.Pro1009His) n.3391C>A c.3122C>A (p.Pro1041His) c.3212C>A (p.Pro1071His) c.*3127C>A (n.*3127C>A) c.2250-28C>A (n.2250-28C>A) c.*2743C>A (n.*2743C>A) c.788C>A (p.Pro263His) c.2738-23C>A (n.2738-23C>A) c.2481-28C>A (n.2481-28C>A) c.3146C>A (p.Pro1049His) c.3083C>A (p.Pro1028His) n.2117C>A c.3152C>A (p.Pro1051His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.6467924_6467946del | CA1151516511 | PLEKHG5 | c.2893_2915del (p.Ser965ProfsTer26) c.3067_3089del (p.Ser1023ProfsTer26) c.3004_3026del (p.Ser1002ProfsTer26) n.3369_3391del c.3100_3122del (p.Ser1034ProfsTer26) c.3190_3212del (p.Ser1064ProfsTer26) c.*3105_*3127del (n.*3105_*3127del) c.2250-50_2250-28del (n.2250-50_2250-28del) c.*2721_*2743del (n.*2721_*2743del) c.766_788del (p.Ser256ProfsTer26) c.2738-45_2738-23del (n.2738-45_2738-23del) c.2481-50_2481-28del (n.2481-50_2481-28del) c.3124_3146del (p.Ser1042ProfsTer26) c.3061_3083del (p.Ser1021ProfsTer26) n.2095_2117del c.3130_3152del (p.Ser1044ProfsTer26) | ClinVar dbSNP gnomAD v4 |
1 | g.6467922G>A | CA338114009 | PLEKHG5 | c.2914C>T (p.Pro972Ser) c.3088C>T (p.Pro1030Ser) c.3025C>T (p.Pro1009Ser) n.3390C>T c.3121C>T (p.Pro1041Ser) c.3211C>T (p.Pro1071Ser) c.*3126C>T (n.*3126C>T) c.2250-29C>T (n.2250-29C>T) c.*2742C>T (n.*2742C>T) c.787C>T (p.Pro263Ser) c.2738-24C>T (n.2738-24C>T) c.2481-29C>T (n.2481-29C>T) c.3145C>T (p.Pro1049Ser) c.3082C>T (p.Pro1028Ser) n.2116C>T c.3151C>T (p.Pro1051Ser) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.6467922G>C | CA338114006 | PLEKHG5 | c.2914C>G (p.Pro972Ala) c.3088C>G (p.Pro1030Ala) c.3025C>G (p.Pro1009Ala) n.3390C>G c.3121C>G (p.Pro1041Ala) c.3211C>G (p.Pro1071Ala) c.*3126C>G (n.*3126C>G) c.2250-29C>G (n.2250-29C>G) c.*2742C>G (n.*2742C>G) c.787C>G (p.Pro263Ala) c.2738-24C>G (n.2738-24C>G) c.2481-29C>G (n.2481-29C>G) c.3145C>G (p.Pro1049Ala) c.3082C>G (p.Pro1028Ala) n.2116C>G c.3151C>G (p.Pro1051Ala) | |
1 | g.6467922G= | CA1151516526 | PLEKHG5 | c.2914C= (p.Pro972=) c.3088C= (p.Pro1030=) c.3025C= (p.Pro1009=) n.3390C= c.3121C= (p.Pro1041=) c.3211C= (p.Pro1071=) c.*3126C= (n.*3126C=) c.2250-29C= (n.2250-29C=) c.*2742C= (n.*2742C=) c.787C= (p.Pro263=) c.2738-24C= (n.2738-24C=) c.2481-29C= (n.2481-29C=) c.3145C= (p.Pro1049=) c.3082C= (p.Pro1028=) n.2116C= c.3151C= (p.Pro1051=) | |
1 | g.6467922G>T | CA338114004 | PLEKHG5 | c.2914C>A (p.Pro972Thr) c.3088C>A (p.Pro1030Thr) c.3025C>A (p.Pro1009Thr) n.3390C>A c.3121C>A (p.Pro1041Thr) c.3211C>A (p.Pro1071Thr) c.*3126C>A (n.*3126C>A) c.2250-29C>A (n.2250-29C>A) c.*2742C>A (n.*2742C>A) c.787C>A (p.Pro263Thr) c.2738-24C>A (n.2738-24C>A) c.2481-29C>A (n.2481-29C>A) c.3145C>A (p.Pro1049Thr) c.3082C>A (p.Pro1028Thr) n.2116C>A c.3151C>A (p.Pro1051Thr) | gnomAD v4 |
1 | g.6467923C>A | CA338114031 | PLEKHG5 | c.2913G>T (p.Glu971Asp) c.3087G>T (p.Glu1029Asp) c.3024G>T (p.Glu1008Asp) n.3389G>T c.3120G>T (p.Glu1040Asp) c.3210G>T (p.Glu1070Asp) c.*3125G>T (n.*3125G>T) c.2250-30G>T (n.2250-30G>T) c.*2741G>T (n.*2741G>T) c.786G>T (p.Glu262Asp) c.2738-25G>T (n.2738-25G>T) c.2481-30G>T (n.2481-30G>T) c.3144G>T (p.Glu1048Asp) c.3081G>T (p.Glu1027Asp) n.2115G>T c.3150G>T (p.Glu1050Asp) | gnomAD v4 |
1 | g.6467923C= | CA1151516532 | PLEKHG5 | c.2913G= (p.Glu971=) c.3087G= (p.Glu1029=) c.3024G= (p.Glu1008=) n.3389G= c.3120G= (p.Glu1040=) c.3210G= (p.Glu1070=) c.*3125G= (n.*3125G=) c.2250-30G= (n.2250-30G=) c.*2741G= (n.*2741G=) c.786G= (p.Glu262=) c.2738-25G= (n.2738-25G=) c.2481-30G= (n.2481-30G=) c.3144G= (p.Glu1048=) c.3081G= (p.Glu1027=) n.2115G= c.3150G= (p.Glu1050=) | |
1 | g.6467923C>G | CA338114012 | PLEKHG5 | c.2913G>C (p.Glu971Asp) c.3087G>C (p.Glu1029Asp) c.3024G>C (p.Glu1008Asp) n.3389G>C c.3120G>C (p.Glu1040Asp) c.3210G>C (p.Glu1070Asp) c.*3125G>C (n.*3125G>C) c.2250-30G>C (n.2250-30G>C) c.*2741G>C (n.*2741G>C) c.786G>C (p.Glu262Asp) c.2738-25G>C (n.2738-25G>C) c.2481-30G>C (n.2481-30G>C) c.3144G>C (p.Glu1048Asp) c.3081G>C (p.Glu1027Asp) n.2115G>C c.3150G>C (p.Glu1050Asp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.6467923C>T | CA416022009 | PLEKHG5 | c.2913G>A (p.Glu971=) c.3087G>A (p.Glu1029=) c.3024G>A (p.Glu1008=) n.3389G>A c.3120G>A (p.Glu1040=) c.3210G>A (p.Glu1070=) c.*3125G>A (n.*3125G>A) c.2250-30G>A (n.2250-30G>A) c.*2741G>A (n.*2741G>A) c.786G>A (p.Glu262=) c.2738-25G>A (n.2738-25G>A) c.2481-30G>A (n.2481-30G>A) c.3144G>A (p.Glu1048=) c.3081G>A (p.Glu1027=) n.2115G>A c.3150G>A (p.Glu1050=) | |
1 | g.6467924T>A | CA338114032 | PLEKHG5 | c.2912A>T (p.Glu971Val) c.3086A>T (p.Glu1029Val) c.3023A>T (p.Glu1008Val) n.3388A>T c.3119A>T (p.Glu1040Val) c.3209A>T (p.Glu1070Val) c.*3124A>T (n.*3124A>T) c.2250-31A>T (n.2250-31A>T) c.*2740A>T (n.*2740A>T) c.785A>T (p.Glu262Val) c.2738-26A>T (n.2738-26A>T) c.2481-31A>T (n.2481-31A>T) c.3143A>T (p.Glu1048Val) c.3080A>T (p.Glu1027Val) n.2114A>T c.3149A>T (p.Glu1050Val) | |
1 | g.6467924T>C | CA338114033 | PLEKHG5 | c.2912A>G (p.Glu971Gly) c.3086A>G (p.Glu1029Gly) c.3023A>G (p.Glu1008Gly) n.3388A>G c.3119A>G (p.Glu1040Gly) c.3209A>G (p.Glu1070Gly) c.*3124A>G (n.*3124A>G) c.2250-31A>G (n.2250-31A>G) c.*2740A>G (n.*2740A>G) c.785A>G (p.Glu262Gly) c.2738-26A>G (n.2738-26A>G) c.2481-31A>G (n.2481-31A>G) c.3143A>G (p.Glu1048Gly) c.3080A>G (p.Glu1027Gly) n.2114A>G c.3149A>G (p.Glu1050Gly) | |
1 | g.6467924T>G | CA338114034 | PLEKHG5 | c.2912A>C (p.Glu971Ala) c.3086A>C (p.Glu1029Ala) c.3023A>C (p.Glu1008Ala) n.3388A>C c.3119A>C (p.Glu1040Ala) c.3209A>C (p.Glu1070Ala) c.*3124A>C (n.*3124A>C) c.2250-31A>C (n.2250-31A>C) c.*2740A>C (n.*2740A>C) c.785A>C (p.Glu262Ala) c.2738-26A>C (n.2738-26A>C) c.2481-31A>C (n.2481-31A>C) c.3143A>C (p.Glu1048Ala) c.3080A>C (p.Glu1027Ala) n.2114A>C c.3149A>C (p.Glu1050Ala) | |
1 | g.6467925C>A | CA338114039 | PLEKHG5 | c.2911G>T (p.Glu971Ter) c.3085G>T (p.Glu1029Ter) c.3022G>T (p.Glu1008Ter) n.3387G>T c.3118G>T (p.Glu1040Ter) c.3208G>T (p.Glu1070Ter) c.*3123G>T (n.*3123G>T) c.2250-32G>T (n.2250-32G>T) c.*2739G>T (n.*2739G>T) c.784G>T (p.Glu262Ter) c.2738-27G>T (n.2738-27G>T) c.2481-32G>T (n.2481-32G>T) c.3142G>T (p.Glu1048Ter) c.3079G>T (p.Glu1027Ter) n.2113G>T c.3148G>T (p.Glu1050Ter) | |
1 | g.6467925C>G | CA338114046 | PLEKHG5 | c.2911G>C (p.Glu971Gln) c.3085G>C (p.Glu1029Gln) c.3022G>C (p.Glu1008Gln) n.3387G>C c.3118G>C (p.Glu1040Gln) c.3208G>C (p.Glu1070Gln) c.*3123G>C (n.*3123G>C) c.2250-32G>C (n.2250-32G>C) c.*2739G>C (n.*2739G>C) c.784G>C (p.Glu262Gln) c.2738-27G>C (n.2738-27G>C) c.2481-32G>C (n.2481-32G>C) c.3142G>C (p.Glu1048Gln) c.3079G>C (p.Glu1027Gln) n.2113G>C c.3148G>C (p.Glu1050Gln) | |
1 | g.6467925C>T | CA338114048 | PLEKHG5 | c.2911G>A (p.Glu971Lys) c.3085G>A (p.Glu1029Lys) c.3022G>A (p.Glu1008Lys) n.3387G>A c.3118G>A (p.Glu1040Lys) c.3208G>A (p.Glu1070Lys) c.*3123G>A (n.*3123G>A) c.2250-32G>A (n.2250-32G>A) c.*2739G>A (n.*2739G>A) c.784G>A (p.Glu262Lys) c.2738-27G>A (n.2738-27G>A) c.2481-32G>A (n.2481-32G>A) c.3142G>A (p.Glu1048Lys) c.3079G>A (p.Glu1027Lys) n.2113G>A c.3148G>A (p.Glu1050Lys) | gnomAD v4 |
1 | g.6467926A>C | CA416022014 | PLEKHG5 | c.2910T>G (p.Pro970=) c.3084T>G (p.Pro1028=) c.3021T>G (p.Pro1007=) n.3386T>G c.3117T>G (p.Pro1039=) c.3207T>G (p.Pro1069=) c.*3122T>G (n.*3122T>G) c.2250-33T>G (n.2250-33T>G) c.*2738T>G (n.*2738T>G) c.783T>G (p.Pro261=) c.2738-28T>G (n.2738-28T>G) c.2481-33T>G (n.2481-33T>G) c.3141T>G (p.Pro1047=) c.3078T>G (p.Pro1026=) n.2112T>G c.3147T>G (p.Pro1049=) | |
1 | g.6467926A>G | CA416022016 | PLEKHG5 | c.2910T>C (p.Pro970=) c.3084T>C (p.Pro1028=) c.3021T>C (p.Pro1007=) n.3386T>C c.3117T>C (p.Pro1039=) c.3207T>C (p.Pro1069=) c.*3122T>C (n.*3122T>C) c.2250-33T>C (n.2250-33T>C) c.*2738T>C (n.*2738T>C) c.783T>C (p.Pro261=) c.2738-28T>C (n.2738-28T>C) c.2481-33T>C (n.2481-33T>C) c.3141T>C (p.Pro1047=) c.3078T>C (p.Pro1026=) n.2112T>C c.3147T>C (p.Pro1049=) | |
1 | g.6467926A>T | CA416022015 | PLEKHG5 | c.2910T>A (p.Pro970=) c.3084T>A (p.Pro1028=) c.3021T>A (p.Pro1007=) n.3386T>A c.3117T>A (p.Pro1039=) c.3207T>A (p.Pro1069=) c.*3122T>A (n.*3122T>A) c.2250-33T>A (n.2250-33T>A) c.*2738T>A (n.*2738T>A) c.783T>A (p.Pro261=) c.2738-28T>A (n.2738-28T>A) c.2481-33T>A (n.2481-33T>A) c.3141T>A (p.Pro1047=) c.3078T>A (p.Pro1026=) n.2112T>A c.3147T>A (p.Pro1049=) | |
1 | g.6467927G>A | CA338114058 | PLEKHG5 | c.2909C>T (p.Pro970Leu) c.3083C>T (p.Pro1028Leu) c.3020C>T (p.Pro1007Leu) n.3385C>T c.3116C>T (p.Pro1039Leu) c.3206C>T (p.Pro1069Leu) c.*3121C>T (n.*3121C>T) c.2250-34C>T (n.2250-34C>T) c.*2737C>T (n.*2737C>T) c.782C>T (p.Pro261Leu) c.2738-29C>T (n.2738-29C>T) c.2481-34C>T (n.2481-34C>T) c.3140C>T (p.Pro1047Leu) c.3077C>T (p.Pro1026Leu) n.2111C>T c.3146C>T (p.Pro1049Leu) | |
1 | g.6467927G>C | CA338114052 | PLEKHG5 | c.2909C>G (p.Pro970Arg) c.3083C>G (p.Pro1028Arg) c.3020C>G (p.Pro1007Arg) n.3385C>G c.3116C>G (p.Pro1039Arg) c.3206C>G (p.Pro1069Arg) c.*3121C>G (n.*3121C>G) c.2250-34C>G (n.2250-34C>G) c.*2737C>G (n.*2737C>G) c.782C>G (p.Pro261Arg) c.2738-29C>G (n.2738-29C>G) c.2481-34C>G (n.2481-34C>G) c.3140C>G (p.Pro1047Arg) c.3077C>G (p.Pro1026Arg) n.2111C>G c.3146C>G (p.Pro1049Arg) | |
1 | g.6467927G>T | CA338114055 | PLEKHG5 | c.2909C>A (p.Pro970His) c.3083C>A (p.Pro1028His) c.3020C>A (p.Pro1007His) n.3385C>A c.3116C>A (p.Pro1039His) c.3206C>A (p.Pro1069His) c.*3121C>A (n.*3121C>A) c.2250-34C>A (n.2250-34C>A) c.*2737C>A (n.*2737C>A) c.782C>A (p.Pro261His) c.2738-29C>A (n.2738-29C>A) c.2481-34C>A (n.2481-34C>A) c.3140C>A (p.Pro1047His) c.3077C>A (p.Pro1026His) n.2111C>A c.3146C>A (p.Pro1049His) | |
1 | g.6467928G>A | CA561067 | PLEKHG5 | c.2908C>T (p.Pro970Ser) c.3082C>T (p.Pro1028Ser) c.3019C>T (p.Pro1007Ser) n.3384C>T c.3115C>T (p.Pro1039Ser) c.3205C>T (p.Pro1069Ser) c.*3120C>T (n.*3120C>T) c.2250-35C>T (n.2250-35C>T) c.*2736C>T (n.*2736C>T) c.781C>T (p.Pro261Ser) c.2738-30C>T (n.2738-30C>T) c.2481-35C>T (n.2481-35C>T) c.3139C>T (p.Pro1047Ser) c.3076C>T (p.Pro1026Ser) n.2110C>T c.3145C>T (p.Pro1049Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.6467928G>C | CA338114062 | PLEKHG5 | c.2908C>G (p.Pro970Ala) c.3082C>G (p.Pro1028Ala) c.3019C>G (p.Pro1007Ala) n.3384C>G c.3115C>G (p.Pro1039Ala) c.3205C>G (p.Pro1069Ala) c.*3120C>G (n.*3120C>G) c.2250-35C>G (n.2250-35C>G) c.*2736C>G (n.*2736C>G) c.781C>G (p.Pro261Ala) c.2738-30C>G (n.2738-30C>G) c.2481-35C>G (n.2481-35C>G) c.3139C>G (p.Pro1047Ala) c.3076C>G (p.Pro1026Ala) n.2110C>G c.3145C>G (p.Pro1049Ala) | |
1 | g.6467928G= | CA1143900328 | PLEKHG5 | c.2908C= (p.Pro970=) c.3082C= (p.Pro1028=) c.3019C= (p.Pro1007=) n.3384C= c.3115C= (p.Pro1039=) c.3205C= (p.Pro1069=) c.*3120C= (n.*3120C=) c.2250-35C= (n.2250-35C=) c.*2736C= (n.*2736C=) c.781C= (p.Pro261=) c.2738-30C= (n.2738-30C=) c.2481-35C= (n.2481-35C=) c.3139C= (p.Pro1047=) c.3076C= (p.Pro1026=) n.2110C= c.3145C= (p.Pro1049=) | |
1 | g.6467928G>T | CA338114066 | PLEKHG5 | c.2908C>A (p.Pro970Thr) c.3082C>A (p.Pro1028Thr) c.3019C>A (p.Pro1007Thr) n.3384C>A c.3115C>A (p.Pro1039Thr) c.3205C>A (p.Pro1069Thr) c.*3120C>A (n.*3120C>A) c.2250-35C>A (n.2250-35C>A) c.*2736C>A (n.*2736C>A) c.781C>A (p.Pro261Thr) c.2738-30C>A (n.2738-30C>A) c.2481-35C>A (n.2481-35C>A) c.3139C>A (p.Pro1047Thr) c.3076C>A (p.Pro1026Thr) n.2110C>A c.3145C>A (p.Pro1049Thr) | |
1 | g.6467929C>A | CA338114067 | PLEKHG5 | c.2907G>T (p.Gln969His) c.3081G>T (p.Gln1027His) c.3018G>T (p.Gln1006His) n.3383G>T c.3114G>T (p.Gln1038His) c.3204G>T (p.Gln1068His) c.*3119G>T (n.*3119G>T) c.2250-36G>T (n.2250-36G>T) c.*2735G>T (n.*2735G>T) c.780G>T (p.Gln260His) c.2738-31G>T (n.2738-31G>T) c.2481-36G>T (n.2481-36G>T) c.3138G>T (p.Gln1046His) c.3075G>T (p.Gln1025His) n.2109G>T c.3144G>T (p.Gln1048His) | gnomAD v4 |
1 | g.6467929C>G | CA338114070 | PLEKHG5 | c.2907G>C (p.Gln969His) c.3081G>C (p.Gln1027His) c.3018G>C (p.Gln1006His) n.3383G>C c.3114G>C (p.Gln1038His) c.3204G>C (p.Gln1068His) c.*3119G>C (n.*3119G>C) c.2250-36G>C (n.2250-36G>C) c.*2735G>C (n.*2735G>C) c.780G>C (p.Gln260His) c.2738-31G>C (n.2738-31G>C) c.2481-36G>C (n.2481-36G>C) c.3138G>C (p.Gln1046His) c.3075G>C (p.Gln1025His) n.2109G>C c.3144G>C (p.Gln1048His) | |
1 | g.6467929C>T | CA416022020 | PLEKHG5 | c.2907G>A (p.Gln969=) c.3081G>A (p.Gln1027=) c.3018G>A (p.Gln1006=) n.3383G>A c.3114G>A (p.Gln1038=) c.3204G>A (p.Gln1068=) c.*3119G>A (n.*3119G>A) c.2250-36G>A (n.2250-36G>A) c.*2735G>A (n.*2735G>A) c.780G>A (p.Gln260=) c.2738-31G>A (n.2738-31G>A) c.2481-36G>A (n.2481-36G>A) c.3138G>A (p.Gln1046=) c.3075G>A (p.Gln1025=) n.2109G>A c.3144G>A (p.Gln1048=) | |
1 | g.6467930T>A | CA338114085 | PLEKHG5 | c.2906A>T (p.Gln969Leu) c.3080A>T (p.Gln1027Leu) c.3017A>T (p.Gln1006Leu) n.3382A>T c.3113A>T (p.Gln1038Leu) c.3203A>T (p.Gln1068Leu) c.*3118A>T (n.*3118A>T) c.2250-37A>T (n.2250-37A>T) c.*2734A>T (n.*2734A>T) c.779A>T (p.Gln260Leu) c.2738-32A>T (n.2738-32A>T) c.2481-37A>T (n.2481-37A>T) c.3137A>T (p.Gln1046Leu) c.3074A>T (p.Gln1025Leu) n.2108A>T c.3143A>T (p.Gln1048Leu) | |
1 | g.6467930T>C | CA338114104 | PLEKHG5 | c.2906A>G (p.Gln969Arg) c.3080A>G (p.Gln1027Arg) c.3017A>G (p.Gln1006Arg) n.3382A>G c.3113A>G (p.Gln1038Arg) c.3203A>G (p.Gln1068Arg) c.*3118A>G (n.*3118A>G) c.2250-37A>G (n.2250-37A>G) c.*2734A>G (n.*2734A>G) c.779A>G (p.Gln260Arg) c.2738-32A>G (n.2738-32A>G) c.2481-37A>G (n.2481-37A>G) c.3137A>G (p.Gln1046Arg) c.3074A>G (p.Gln1025Arg) n.2108A>G c.3143A>G (p.Gln1048Arg) | |
1 | g.6467930T>G | CA338114099 | PLEKHG5 | c.2906A>C (p.Gln969Pro) c.3080A>C (p.Gln1027Pro) c.3017A>C (p.Gln1006Pro) n.3382A>C c.3113A>C (p.Gln1038Pro) c.3203A>C (p.Gln1068Pro) c.*3118A>C (n.*3118A>C) c.2250-37A>C (n.2250-37A>C) c.*2734A>C (n.*2734A>C) c.779A>C (p.Gln260Pro) c.2738-32A>C (n.2738-32A>C) c.2481-37A>C (n.2481-37A>C) c.3137A>C (p.Gln1046Pro) c.3074A>C (p.Gln1025Pro) n.2108A>C c.3143A>C (p.Gln1048Pro) | |
1 | g.6467931G>A | CA338114108 | PLEKHG5 | c.2905C>T (p.Gln969Ter) c.3079C>T (p.Gln1027Ter) c.3016C>T (p.Gln1006Ter) n.3381C>T c.3112C>T (p.Gln1038Ter) c.3202C>T (p.Gln1068Ter) c.*3117C>T (n.*3117C>T) c.2250-38C>T (n.2250-38C>T) c.*2733C>T (n.*2733C>T) c.778C>T (p.Gln260Ter) c.2738-33C>T (n.2738-33C>T) c.2481-38C>T (n.2481-38C>T) c.3136C>T (p.Gln1046Ter) c.3073C>T (p.Gln1025Ter) n.2107C>T c.3142C>T (p.Gln1048Ter) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.6467931G>C | CA338114115 | PLEKHG5 | c.2905C>G (p.Gln969Glu) c.3079C>G (p.Gln1027Glu) c.3016C>G (p.Gln1006Glu) n.3381C>G c.3112C>G (p.Gln1038Glu) c.3202C>G (p.Gln1068Glu) c.*3117C>G (n.*3117C>G) c.2250-38C>G (n.2250-38C>G) c.*2733C>G (n.*2733C>G) c.778C>G (p.Gln260Glu) c.2738-33C>G (n.2738-33C>G) c.2481-38C>G (n.2481-38C>G) c.3136C>G (p.Gln1046Glu) c.3073C>G (p.Gln1025Glu) n.2107C>G c.3142C>G (p.Gln1048Glu) | |
1 | g.6467931G= | CA1151516539 | PLEKHG5 | c.2905C= (p.Gln969=) c.3079C= (p.Gln1027=) c.3016C= (p.Gln1006=) n.3381C= c.3112C= (p.Gln1038=) c.3202C= (p.Gln1068=) c.*3117C= (n.*3117C=) c.2250-38C= (n.2250-38C=) c.*2733C= (n.*2733C=) c.778C= (p.Gln260=) c.2738-33C= (n.2738-33C=) c.2481-38C= (n.2481-38C=) c.3136C= (p.Gln1046=) c.3073C= (p.Gln1025=) n.2107C= c.3142C= (p.Gln1048=) | |
1 | g.6467931G>T | CA338114120 | PLEKHG5 | c.2905C>A (p.Gln969Lys) c.3079C>A (p.Gln1027Lys) c.3016C>A (p.Gln1006Lys) n.3381C>A c.3112C>A (p.Gln1038Lys) c.3202C>A (p.Gln1068Lys) c.*3117C>A (n.*3117C>A) c.2250-38C>A (n.2250-38C>A) c.*2733C>A (n.*2733C>A) c.778C>A (p.Gln260Lys) c.2738-33C>A (n.2738-33C>A) c.2481-38C>A (n.2481-38C>A) c.3136C>A (p.Gln1046Lys) c.3073C>A (p.Gln1025Lys) n.2107C>A c.3142C>A (p.Gln1048Lys) | |
1 | g.6467932G>A | CA416022026 | PLEKHG5 | c.2904C>T (p.Val968=) c.3078C>T (p.Val1026=) c.3015C>T (p.Val1005=) n.3380C>T c.3111C>T (p.Val1037=) c.3201C>T (p.Val1067=) c.*3116C>T (n.*3116C>T) c.2250-39C>T (n.2250-39C>T) c.*2732C>T (n.*2732C>T) c.777C>T (p.Val259=) c.2738-34C>T (n.2738-34C>T) c.2481-39C>T (n.2481-39C>T) c.3135C>T (p.Val1045=) c.3072C>T (p.Val1024=) n.2106C>T c.3141C>T (p.Val1047=) | |
1 | g.6467932G>C | CA416022024 | PLEKHG5 | c.2904C>G (p.Val968=) c.3078C>G (p.Val1026=) c.3015C>G (p.Val1005=) n.3380C>G c.3111C>G (p.Val1037=) c.3201C>G (p.Val1067=) c.*3116C>G (n.*3116C>G) c.2250-39C>G (n.2250-39C>G) c.*2732C>G (n.*2732C>G) c.777C>G (p.Val259=) c.2738-34C>G (n.2738-34C>G) c.2481-39C>G (n.2481-39C>G) c.3135C>G (p.Val1045=) c.3072C>G (p.Val1024=) n.2106C>G c.3141C>G (p.Val1047=) | |
1 | g.6467932G>T | CA416022025 | PLEKHG5 | c.2904C>A (p.Val968=) c.3078C>A (p.Val1026=) c.3015C>A (p.Val1005=) n.3380C>A c.3111C>A (p.Val1037=) c.3201C>A (p.Val1067=) c.*3116C>A (n.*3116C>A) c.2250-39C>A (n.2250-39C>A) c.*2732C>A (n.*2732C>A) c.777C>A (p.Val259=) c.2738-34C>A (n.2738-34C>A) c.2481-39C>A (n.2481-39C>A) c.3135C>A (p.Val1045=) c.3072C>A (p.Val1024=) n.2106C>A c.3141C>A (p.Val1047=) | |
1 | g.6467933A>C | CA338114123 | PLEKHG5 | c.2903T>G (p.Val968Gly) c.3077T>G (p.Val1026Gly) c.3014T>G (p.Val1005Gly) n.3379T>G c.3110T>G (p.Val1037Gly) c.3200T>G (p.Val1067Gly) c.*3115T>G (n.*3115T>G) c.2250-40T>G (n.2250-40T>G) c.*2731T>G (n.*2731T>G) c.776T>G (p.Val259Gly) c.2738-35T>G (n.2738-35T>G) c.2481-40T>G (n.2481-40T>G) c.3134T>G (p.Val1045Gly) c.3071T>G (p.Val1024Gly) n.2105T>G c.3140T>G (p.Val1047Gly) | |
1 | g.6467933A>G | CA338114125 | PLEKHG5 | c.2903T>C (p.Val968Ala) c.3077T>C (p.Val1026Ala) c.3014T>C (p.Val1005Ala) n.3379T>C c.3110T>C (p.Val1037Ala) c.3200T>C (p.Val1067Ala) c.*3115T>C (n.*3115T>C) c.2250-40T>C (n.2250-40T>C) c.*2731T>C (n.*2731T>C) c.776T>C (p.Val259Ala) c.2738-35T>C (n.2738-35T>C) c.2481-40T>C (n.2481-40T>C) c.3134T>C (p.Val1045Ala) c.3071T>C (p.Val1024Ala) n.2105T>C c.3140T>C (p.Val1047Ala) | |
1 | g.6467933A>T | CA338114129 | PLEKHG5 | c.2903T>A (p.Val968Asp) c.3077T>A (p.Val1026Asp) c.3014T>A (p.Val1005Asp) n.3379T>A c.3110T>A (p.Val1037Asp) c.3200T>A (p.Val1067Asp) c.*3115T>A (n.*3115T>A) c.2250-40T>A (n.2250-40T>A) c.*2731T>A (n.*2731T>A) c.776T>A (p.Val259Asp) c.2738-35T>A (n.2738-35T>A) c.2481-40T>A (n.2481-40T>A) c.3134T>A (p.Val1045Asp) c.3071T>A (p.Val1024Asp) n.2105T>A c.3140T>A (p.Val1047Asp) | |
1 | g.6467933_6467934delinsAC | CA1151516541 | PLEKHG5 | c.2902_2903delinsGT (p.Val968=) c.3076_3077delinsGT (p.Val1026=) c.3013_3014delinsGT (p.Val1005=) n.3378_3379delinsGT c.3109_3110delinsGT (p.Val1037=) c.3199_3200delinsGT (p.Val1067=) c.*3114_*3115delinsGT (n.*3114_*3115delinsGT) c.2250-41_2250-40delinsGT (n.2250-41_2250-40delinsGT) c.*2730_*2731delinsGT (n.*2730_*2731delinsGT) c.775_776delinsGT (p.Val259=) c.2738-36_2738-35delinsGT (n.2738-36_2738-35delinsGT) c.2481-41_2481-40delinsGT (n.2481-41_2481-40delinsGT) c.3133_3134delinsGT (p.Val1045=) c.3070_3071delinsGT (p.Val1024=) n.2104_2105delinsGT c.3139_3140delinsGT (p.Val1047=) | |
1 | g.6467934C>A | CA338114136 | PLEKHG5 | c.2902G>T (p.Val968Phe) c.3076G>T (p.Val1026Phe) c.3013G>T (p.Val1005Phe) n.3378G>T c.3109G>T (p.Val1037Phe) c.3199G>T (p.Val1067Phe) c.*3114G>T (n.*3114G>T) c.2250-41G>T (n.2250-41G>T) c.*2730G>T (n.*2730G>T) c.775G>T (p.Val259Phe) c.2738-36G>T (n.2738-36G>T) c.2481-41G>T (n.2481-41G>T) c.3133G>T (p.Val1045Phe) c.3070G>T (p.Val1024Phe) n.2104G>T c.3139G>T (p.Val1047Phe) | |
1 | g.6467934C= | CA1151516546 | PLEKHG5 | c.2902G= (p.Val968=) c.3076G= (p.Val1026=) c.3013G= (p.Val1005=) n.3378G= c.3109G= (p.Val1037=) c.3199G= (p.Val1067=) c.*3114G= (n.*3114G=) c.2250-41G= (n.2250-41G=) c.*2730G= (n.*2730G=) c.775G= (p.Val259=) c.2738-36G= (n.2738-36G=) c.2481-41G= (n.2481-41G=) c.3133G= (p.Val1045=) c.3070G= (p.Val1024=) n.2104G= c.3139G= (p.Val1047=) | |
1 | g.6467934C>G | CA338114139 | PLEKHG5 | c.2902G>C (p.Val968Leu) c.3076G>C (p.Val1026Leu) c.3013G>C (p.Val1005Leu) n.3378G>C c.3109G>C (p.Val1037Leu) c.3199G>C (p.Val1067Leu) c.*3114G>C (n.*3114G>C) c.2250-41G>C (n.2250-41G>C) c.*2730G>C (n.*2730G>C) c.775G>C (p.Val259Leu) c.2738-36G>C (n.2738-36G>C) c.2481-41G>C (n.2481-41G>C) c.3133G>C (p.Val1045Leu) c.3070G>C (p.Val1024Leu) n.2104G>C c.3139G>C (p.Val1047Leu) | |
1 | g.6467934C>T | CA338114142 | PLEKHG5 | c.2902G>A (p.Val968Ile) c.3076G>A (p.Val1026Ile) c.3013G>A (p.Val1005Ile) n.3378G>A c.3109G>A (p.Val1037Ile) c.3199G>A (p.Val1067Ile) c.*3114G>A (n.*3114G>A) c.2250-41G>A (n.2250-41G>A) c.*2730G>A (n.*2730G>A) c.775G>A (p.Val259Ile) c.2738-36G>A (n.2738-36G>A) c.2481-41G>A (n.2481-41G>A) c.3133G>A (p.Val1045Ile) c.3070G>A (p.Val1024Ile) n.2104G>A c.3139G>A (p.Val1047Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.6467936del | CA561068 | PLEKHG5 | c.2902del (p.Val968SerfsTer16) c.3076del (p.Val1026SerfsTer16) c.3013del (p.Val1005SerfsTer16) n.3378del c.3109del (p.Val1037SerfsTer16) c.3199del (p.Val1067SerfsTer16) c.*3114del (n.*3114del) c.2250-41del (n.2250-41del) c.*2730del (n.*2730del) c.775del (p.Val259SerfsTer16) c.2738-36del (n.2738-36del) c.2481-41del (n.2481-41del) c.3133del (p.Val1045SerfsTer16) c.3070del (p.Val1024SerfsTer16) n.2104del c.3139del (p.Val1047SerfsTer16) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.6467935C>A | CA338114149 | PLEKHG5 | c.2901G>T (p.Arg967Ser) c.3075G>T (p.Arg1025Ser) c.3012G>T (p.Arg1004Ser) n.3377G>T c.3108G>T (p.Arg1036Ser) c.3198G>T (p.Arg1066Ser) c.*3113G>T (n.*3113G>T) c.2250-42G>T (n.2250-42G>T) c.*2729G>T (n.*2729G>T) c.774G>T (p.Arg258Ser) c.2738-37G>T (n.2738-37G>T) c.2481-42G>T (n.2481-42G>T) c.3132G>T (p.Arg1044Ser) c.3069G>T (p.Arg1023Ser) n.2103G>T c.3138G>T (p.Arg1046Ser) | gnomAD v4 |
1 | g.6467935C= | CA1151516551 | PLEKHG5 | c.2901G= (p.Arg967=) c.3075G= (p.Arg1025=) c.3012G= (p.Arg1004=) n.3377G= c.3108G= (p.Arg1036=) c.3198G= (p.Arg1066=) c.*3113G= (n.*3113G=) c.2250-42G= (n.2250-42G=) c.*2729G= (n.*2729G=) c.774G= (p.Arg258=) c.2738-37G= (n.2738-37G=) c.2481-42G= (n.2481-42G=) c.3132G= (p.Arg1044=) c.3069G= (p.Arg1023=) n.2103G= c.3138G= (p.Arg1046=) | |
1 | g.6467935C>G | CA338114152 | PLEKHG5 | c.2901G>C (p.Arg967Ser) c.3075G>C (p.Arg1025Ser) c.3012G>C (p.Arg1004Ser) n.3377G>C c.3108G>C (p.Arg1036Ser) c.3198G>C (p.Arg1066Ser) c.*3113G>C (n.*3113G>C) c.2250-42G>C (n.2250-42G>C) c.*2729G>C (n.*2729G>C) c.774G>C (p.Arg258Ser) c.2738-37G>C (n.2738-37G>C) c.2481-42G>C (n.2481-42G>C) c.3132G>C (p.Arg1044Ser) c.3069G>C (p.Arg1023Ser) n.2103G>C c.3138G>C (p.Arg1046Ser) | |
1 | g.6467935C>T | CA416022030 | PLEKHG5 | c.2901G>A (p.Arg967=) c.3075G>A (p.Arg1025=) c.3012G>A (p.Arg1004=) n.3377G>A c.3108G>A (p.Arg1036=) c.3198G>A (p.Arg1066=) c.*3113G>A (n.*3113G>A) c.2250-42G>A (n.2250-42G>A) c.*2729G>A (n.*2729G>A) c.774G>A (p.Arg258=) c.2738-37G>A (n.2738-37G>A) c.2481-42G>A (n.2481-42G>A) c.3132G>A (p.Arg1044=) c.3069G>A (p.Arg1023=) n.2103G>A c.3138G>A (p.Arg1046=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.6467936C>A | CA561070 | PLEKHG5 | c.2900G>T (p.Arg967Met) c.3074G>T (p.Arg1025Met) c.3011G>T (p.Arg1004Met) n.3376G>T c.3107G>T (p.Arg1036Met) c.3197G>T (p.Arg1066Met) c.*3112G>T (n.*3112G>T) c.2250-43G>T (n.2250-43G>T) c.*2728G>T (n.*2728G>T) c.773G>T (p.Arg258Met) c.2738-38G>T (n.2738-38G>T) c.2481-43G>T (n.2481-43G>T) c.3131G>T (p.Arg1044Met) c.3068G>T (p.Arg1023Met) n.2102G>T c.3137G>T (p.Arg1046Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.6467936C= | CA1144137447 | PLEKHG5 | c.2900G= (p.Arg967=) c.3074G= (p.Arg1025=) c.3011G= (p.Arg1004=) n.3376G= c.3107G= (p.Arg1036=) c.3197G= (p.Arg1066=) c.*3112G= (n.*3112G=) c.2250-43G= (n.2250-43G=) c.*2728G= (n.*2728G=) c.773G= (p.Arg258=) c.2738-38G= (n.2738-38G=) c.2481-43G= (n.2481-43G=) c.3131G= (p.Arg1044=) c.3068G= (p.Arg1023=) n.2102G= c.3137G= (p.Arg1046=) | |
1 | g.6467936C>G | CA561069 | PLEKHG5 | c.2900G>C (p.Arg967Thr) c.3074G>C (p.Arg1025Thr) c.3011G>C (p.Arg1004Thr) n.3376G>C c.3107G>C (p.Arg1036Thr) c.3197G>C (p.Arg1066Thr) c.*3112G>C (n.*3112G>C) c.2250-43G>C (n.2250-43G>C) c.*2728G>C (n.*2728G>C) c.773G>C (p.Arg258Thr) c.2738-38G>C (n.2738-38G>C) c.2481-43G>C (n.2481-43G>C) c.3131G>C (p.Arg1044Thr) c.3068G>C (p.Arg1023Thr) n.2102G>C c.3137G>C (p.Arg1046Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.6467936C>T | CA338114162 | PLEKHG5 | c.2900G>A (p.Arg967Lys) c.3074G>A (p.Arg1025Lys) c.3011G>A (p.Arg1004Lys) n.3376G>A c.3107G>A (p.Arg1036Lys) c.3197G>A (p.Arg1066Lys) c.*3112G>A (n.*3112G>A) c.2250-43G>A (n.2250-43G>A) c.*2728G>A (n.*2728G>A) c.773G>A (p.Arg258Lys) c.2738-38G>A (n.2738-38G>A) c.2481-43G>A (n.2481-43G>A) c.3131G>A (p.Arg1044Lys) c.3068G>A (p.Arg1023Lys) n.2102G>A c.3137G>A (p.Arg1046Lys) | |
1 | g.6467937T>A | CA338114163 | PLEKHG5 | c.2899A>T (p.Arg967Trp) c.3073A>T (p.Arg1025Trp) c.3010A>T (p.Arg1004Trp) n.3375A>T c.3106A>T (p.Arg1036Trp) c.3196A>T (p.Arg1066Trp) c.*3111A>T (n.*3111A>T) c.2250-44A>T (n.2250-44A>T) c.*2727A>T (n.*2727A>T) c.772A>T (p.Arg258Trp) c.2738-39A>T (n.2738-39A>T) c.2481-44A>T (n.2481-44A>T) c.3130A>T (p.Arg1044Trp) c.3067A>T (p.Arg1023Trp) n.2101A>T c.3136A>T (p.Arg1046Trp) | |
1 | g.6467937T>C | CA338114164 | PLEKHG5 | c.2899A>G (p.Arg967Gly) c.3073A>G (p.Arg1025Gly) c.3010A>G (p.Arg1004Gly) n.3375A>G c.3106A>G (p.Arg1036Gly) c.3196A>G (p.Arg1066Gly) c.*3111A>G (n.*3111A>G) c.2250-44A>G (n.2250-44A>G) c.*2727A>G (n.*2727A>G) c.772A>G (p.Arg258Gly) c.2738-39A>G (n.2738-39A>G) c.2481-44A>G (n.2481-44A>G) c.3130A>G (p.Arg1044Gly) c.3067A>G (p.Arg1023Gly) n.2101A>G c.3136A>G (p.Arg1046Gly) | dbSNP gnomAD v4 |
1 | g.6467937T>G | CA416022034 | PLEKHG5 | c.2899A>C (p.Arg967=) c.3073A>C (p.Arg1025=) c.3010A>C (p.Arg1004=) n.3375A>C c.3106A>C (p.Arg1036=) c.3196A>C (p.Arg1066=) c.*3111A>C (n.*3111A>C) c.2250-44A>C (n.2250-44A>C) c.*2727A>C (n.*2727A>C) c.772A>C (p.Arg258=) c.2738-39A>C (n.2738-39A>C) c.2481-44A>C (n.2481-44A>C) c.3130A>C (p.Arg1044=) c.3067A>C (p.Arg1023=) n.2101A>C c.3136A>C (p.Arg1046=) | |
1 | g.6467937T= | CA1151516573 | PLEKHG5 | c.2899A= (p.Arg967=) c.3073A= (p.Arg1025=) c.3010A= (p.Arg1004=) n.3375A= c.3106A= (p.Arg1036=) c.3196A= (p.Arg1066=) c.*3111A= (n.*3111A=) c.2250-44A= (n.2250-44A=) c.*2727A= (n.*2727A=) c.772A= (p.Arg258=) c.2738-39A= (n.2738-39A=) c.2481-44A= (n.2481-44A=) c.3130A= (p.Arg1044=) c.3067A= (p.Arg1023=) n.2101A= c.3136A= (p.Arg1046=) | |
1 | g.6467938G>A | CA416022035 | PLEKHG5 | c.2898C>T (p.Pro966=) c.3072C>T (p.Pro1024=) c.3009C>T (p.Pro1003=) n.3374C>T c.3105C>T (p.Pro1035=) c.3195C>T (p.Pro1065=) c.*3110C>T (n.*3110C>T) c.2250-45C>T (n.2250-45C>T) c.*2726C>T (n.*2726C>T) c.771C>T (p.Pro257=) c.2738-40C>T (n.2738-40C>T) c.2481-45C>T (n.2481-45C>T) c.3129C>T (p.Pro1043=) c.3066C>T (p.Pro1022=) n.2100C>T c.3135C>T (p.Pro1045=) | gnomAD v4 |
1 | g.6467938G>C | CA416022036 | PLEKHG5 | c.2898C>G (p.Pro966=) c.3072C>G (p.Pro1024=) c.3009C>G (p.Pro1003=) n.3374C>G c.3105C>G (p.Pro1035=) c.3195C>G (p.Pro1065=) c.*3110C>G (n.*3110C>G) c.2250-45C>G (n.2250-45C>G) c.*2726C>G (n.*2726C>G) c.771C>G (p.Pro257=) c.2738-40C>G (n.2738-40C>G) c.2481-45C>G (n.2481-45C>G) c.3129C>G (p.Pro1043=) c.3066C>G (p.Pro1022=) n.2100C>G c.3135C>G (p.Pro1045=) | |
1 | g.6467938G>T | CA416022037 | PLEKHG5 | c.2898C>A (p.Pro966=) c.3072C>A (p.Pro1024=) c.3009C>A (p.Pro1003=) n.3374C>A c.3105C>A (p.Pro1035=) c.3195C>A (p.Pro1065=) c.*3110C>A (n.*3110C>A) c.2250-45C>A (n.2250-45C>A) c.*2726C>A (n.*2726C>A) c.771C>A (p.Pro257=) c.2738-40C>A (n.2738-40C>A) c.2481-45C>A (n.2481-45C>A) c.3129C>A (p.Pro1043=) c.3066C>A (p.Pro1022=) n.2100C>A c.3135C>A (p.Pro1045=) | gnomAD v4 |
1 | g.6467940dup | CA2642996101 | PLEKHG5 | c.2898dup (p.Arg967GlnfsTer5) c.3072dup (p.Arg1025GlnfsTer5) c.3009dup (p.Arg1004GlnfsTer5) n.3374dup c.3105dup (p.Arg1036GlnfsTer5) c.3195dup (p.Arg1066GlnfsTer5) c.*3110dup (n.*3110dup) c.2250-45dup (n.2250-45dup) c.*2726dup (n.*2726dup) c.771dup (p.Arg258GlnfsTer5) c.2738-40dup (n.2738-40dup) c.2481-45dup (n.2481-45dup) c.3129dup (p.Arg1044GlnfsTer5) c.3066dup (p.Arg1023GlnfsTer5) n.2100dup c.3135dup (p.Arg1046GlnfsTer5) | gnomAD v4 |
1 | g.6467940del | CA2840114390 | PLEKHG5 | c.2898del (p.Arg967GlyfsTer17) c.3072del (p.Arg1025GlyfsTer17) c.3009del (p.Arg1004GlyfsTer17) n.3374del c.3105del (p.Arg1036GlyfsTer17) c.3195del (p.Arg1066GlyfsTer17) c.*3110del (n.*3110del) c.2250-45del (n.2250-45del) c.*2726del (n.*2726del) c.771del (p.Arg258GlyfsTer17) c.2738-40del (n.2738-40del) c.2481-45del (n.2481-45del) c.3129del (p.Arg1044GlyfsTer17) c.3066del (p.Arg1023GlyfsTer17) n.2100del c.3135del (p.Arg1046GlyfsTer17) | |
1 | g.6467939G>A | CA561071 | PLEKHG5 | c.2897C>T (p.Pro966Leu) c.3071C>T (p.Pro1024Leu) c.3008C>T (p.Pro1003Leu) n.3373C>T c.3104C>T (p.Pro1035Leu) c.3194C>T (p.Pro1065Leu) c.*3109C>T (n.*3109C>T) c.2250-46C>T (n.2250-46C>T) c.*2725C>T (n.*2725C>T) c.770C>T (p.Pro257Leu) c.2738-41C>T (n.2738-41C>T) c.2481-46C>T (n.2481-46C>T) c.3128C>T (p.Pro1043Leu) c.3065C>T (p.Pro1022Leu) n.2099C>T c.3134C>T (p.Pro1045Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.6467939G>C | CA338114174 | PLEKHG5 | c.2897C>G (p.Pro966Arg) c.3071C>G (p.Pro1024Arg) c.3008C>G (p.Pro1003Arg) n.3373C>G c.3104C>G (p.Pro1035Arg) c.3194C>G (p.Pro1065Arg) c.*3109C>G (n.*3109C>G) c.2250-46C>G (n.2250-46C>G) c.*2725C>G (n.*2725C>G) c.770C>G (p.Pro257Arg) c.2738-41C>G (n.2738-41C>G) c.2481-46C>G (n.2481-46C>G) c.3128C>G (p.Pro1043Arg) c.3065C>G (p.Pro1022Arg) n.2099C>G c.3134C>G (p.Pro1045Arg) | |
1 | g.6467939G= | CA1148258913 | PLEKHG5 | c.2897C= (p.Pro966=) c.3071C= (p.Pro1024=) c.3008C= (p.Pro1003=) n.3373C= c.3104C= (p.Pro1035=) c.3194C= (p.Pro1065=) c.*3109C= (n.*3109C=) c.2250-46C= (n.2250-46C=) c.*2725C= (n.*2725C=) c.770C= (p.Pro257=) c.2738-41C= (n.2738-41C=) c.2481-46C= (n.2481-46C=) c.3128C= (p.Pro1043=) c.3065C= (p.Pro1022=) n.2099C= c.3134C= (p.Pro1045=) | |
1 | g.6467939G>T | CA338114177 | PLEKHG5 | c.2897C>A (p.Pro966His) c.3071C>A (p.Pro1024His) c.3008C>A (p.Pro1003His) n.3373C>A c.3104C>A (p.Pro1035His) c.3194C>A (p.Pro1065His) c.*3109C>A (n.*3109C>A) c.2250-46C>A (n.2250-46C>A) c.*2725C>A (n.*2725C>A) c.770C>A (p.Pro257His) c.2738-41C>A (n.2738-41C>A) c.2481-46C>A (n.2481-46C>A) c.3128C>A (p.Pro1043His) c.3065C>A (p.Pro1022His) n.2099C>A c.3134C>A (p.Pro1045His) | |
1 | g.6467940G>A | CA17233326 | PLEKHG5 | c.2896C>T (p.Pro966Ser) c.3070C>T (p.Pro1024Ser) c.3007C>T (p.Pro1003Ser) n.3372C>T c.3103C>T (p.Pro1035Ser) c.3193C>T (p.Pro1065Ser) c.*3108C>T (n.*3108C>T) c.2250-47C>T (n.2250-47C>T) c.*2724C>T (n.*2724C>T) c.769C>T (p.Pro257Ser) c.2738-42C>T (n.2738-42C>T) c.2481-47C>T (n.2481-47C>T) c.3127C>T (p.Pro1043Ser) c.3064C>T (p.Pro1022Ser) n.2098C>T c.3133C>T (p.Pro1045Ser) | dbSNP |
1 | g.6467940G>C | CA338114183 | PLEKHG5 | c.2896C>G (p.Pro966Ala) c.3070C>G (p.Pro1024Ala) c.3007C>G (p.Pro1003Ala) n.3372C>G c.3103C>G (p.Pro1035Ala) c.3193C>G (p.Pro1065Ala) c.*3108C>G (n.*3108C>G) c.2250-47C>G (n.2250-47C>G) c.*2724C>G (n.*2724C>G) c.769C>G (p.Pro257Ala) c.2738-42C>G (n.2738-42C>G) c.2481-47C>G (n.2481-47C>G) c.3127C>G (p.Pro1043Ala) c.3064C>G (p.Pro1022Ala) n.2098C>G c.3133C>G (p.Pro1045Ala) | |
1 | g.6467940G= | CA1145072000 | PLEKHG5 | c.2896C= (p.Pro966=) c.3070C= (p.Pro1024=) c.3007C= (p.Pro1003=) n.3372C= c.3103C= (p.Pro1035=) c.3193C= (p.Pro1065=) c.*3108C= (n.*3108C=) c.2250-47C= (n.2250-47C=) c.*2724C= (n.*2724C=) c.769C= (p.Pro257=) c.2738-42C= (n.2738-42C=) c.2481-47C= (n.2481-47C=) c.3127C= (p.Pro1043=) c.3064C= (p.Pro1022=) n.2098C= c.3133C= (p.Pro1045=) | |
1 | g.6467940G>T | CA338114187 | PLEKHG5 | c.2896C>A (p.Pro966Thr) c.3070C>A (p.Pro1024Thr) c.3007C>A (p.Pro1003Thr) n.3372C>A c.3103C>A (p.Pro1035Thr) c.3193C>A (p.Pro1065Thr) c.*3108C>A (n.*3108C>A) c.2250-47C>A (n.2250-47C>A) c.*2724C>A (n.*2724C>A) c.769C>A (p.Pro257Thr) c.2738-42C>A (n.2738-42C>A) c.2481-47C>A (n.2481-47C>A) c.3127C>A (p.Pro1043Thr) c.3064C>A (p.Pro1022Thr) n.2098C>A c.3133C>A (p.Pro1045Thr) | |
1 | g.6467941A>C | CA416022040 | PLEKHG5 | c.2895T>G (p.Ser965=) c.3069T>G (p.Ser1023=) c.3006T>G (p.Ser1002=) n.3371T>G c.3102T>G (p.Ser1034=) c.3192T>G (p.Ser1064=) c.*3107T>G (n.*3107T>G) c.2250-48T>G (n.2250-48T>G) c.*2723T>G (n.*2723T>G) c.768T>G (p.Ser256=) c.2738-43T>G (n.2738-43T>G) c.2481-48T>G (n.2481-48T>G) c.3126T>G (p.Ser1042=) c.3063T>G (p.Ser1021=) n.2097T>G c.3132T>G (p.Ser1044=) | |
1 | g.6467941A>G | CA416022041 | PLEKHG5 | c.2895T>C (p.Ser965=) c.3069T>C (p.Ser1023=) c.3006T>C (p.Ser1002=) n.3371T>C c.3102T>C (p.Ser1034=) c.3192T>C (p.Ser1064=) c.*3107T>C (n.*3107T>C) c.2250-48T>C (n.2250-48T>C) c.*2723T>C (n.*2723T>C) c.768T>C (p.Ser256=) c.2738-43T>C (n.2738-43T>C) c.2481-48T>C (n.2481-48T>C) c.3126T>C (p.Ser1042=) c.3063T>C (p.Ser1021=) n.2097T>C c.3132T>C (p.Ser1044=) | |
1 | g.6467941A>T | CA416022042 | PLEKHG5 | c.2895T>A (p.Ser965=) c.3069T>A (p.Ser1023=) c.3006T>A (p.Ser1002=) n.3371T>A c.3102T>A (p.Ser1034=) c.3192T>A (p.Ser1064=) c.*3107T>A (n.*3107T>A) c.2250-48T>A (n.2250-48T>A) c.*2723T>A (n.*2723T>A) c.768T>A (p.Ser256=) c.2738-43T>A (n.2738-43T>A) c.2481-48T>A (n.2481-48T>A) c.3126T>A (p.Ser1042=) c.3063T>A (p.Ser1021=) n.2097T>A c.3132T>A (p.Ser1044=) | |
1 | g.6467942G>A | CA338114196 | PLEKHG5 | c.2894C>T (p.Ser965Phe) c.3068C>T (p.Ser1023Phe) c.3005C>T (p.Ser1002Phe) n.3370C>T c.3101C>T (p.Ser1034Phe) c.3191C>T (p.Ser1064Phe) c.*3106C>T (n.*3106C>T) c.2250-49C>T (n.2250-49C>T) c.*2722C>T (n.*2722C>T) c.767C>T (p.Ser256Phe) c.2738-44C>T (n.2738-44C>T) c.2481-49C>T (n.2481-49C>T) c.3125C>T (p.Ser1042Phe) c.3062C>T (p.Ser1021Phe) n.2096C>T c.3131C>T (p.Ser1044Phe) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.6467942G>C | CA338114203 | PLEKHG5 | c.2894C>G (p.Ser965Cys) c.3068C>G (p.Ser1023Cys) c.3005C>G (p.Ser1002Cys) n.3370C>G c.3101C>G (p.Ser1034Cys) c.3191C>G (p.Ser1064Cys) c.*3106C>G (n.*3106C>G) c.2250-49C>G (n.2250-49C>G) c.*2722C>G (n.*2722C>G) c.767C>G (p.Ser256Cys) c.2738-44C>G (n.2738-44C>G) c.2481-49C>G (n.2481-49C>G) c.3125C>G (p.Ser1042Cys) c.3062C>G (p.Ser1021Cys) n.2096C>G c.3131C>G (p.Ser1044Cys) | |
1 | g.6467942G= | CA1151516582 | PLEKHG5 | c.2894C= (p.Ser965=) c.3068C= (p.Ser1023=) c.3005C= (p.Ser1002=) n.3370C= c.3101C= (p.Ser1034=) c.3191C= (p.Ser1064=) c.*3106C= (n.*3106C=) c.2250-49C= (n.2250-49C=) c.*2722C= (n.*2722C=) c.767C= (p.Ser256=) c.2738-44C= (n.2738-44C=) c.2481-49C= (n.2481-49C=) c.3125C= (p.Ser1042=) c.3062C= (p.Ser1021=) n.2096C= c.3131C= (p.Ser1044=) | |
1 | g.6467942G>T | CA338114206 | PLEKHG5 | c.2894C>A (p.Ser965Tyr) c.3068C>A (p.Ser1023Tyr) c.3005C>A (p.Ser1002Tyr) n.3370C>A c.3101C>A (p.Ser1034Tyr) c.3191C>A (p.Ser1064Tyr) c.*3106C>A (n.*3106C>A) c.2250-49C>A (n.2250-49C>A) c.*2722C>A (n.*2722C>A) c.767C>A (p.Ser256Tyr) c.2738-44C>A (n.2738-44C>A) c.2481-49C>A (n.2481-49C>A) c.3125C>A (p.Ser1042Tyr) c.3062C>A (p.Ser1021Tyr) n.2096C>A c.3131C>A (p.Ser1044Tyr) | |
1 | g.6467943A>C | CA338114219 | PLEKHG5 | c.2893T>G (p.Ser965Ala) c.3067T>G (p.Ser1023Ala) c.3004T>G (p.Ser1002Ala) n.3369T>G c.3100T>G (p.Ser1034Ala) c.3190T>G (p.Ser1064Ala) c.*3105T>G (n.*3105T>G) c.2250-50T>G (n.2250-50T>G) c.*2721T>G (n.*2721T>G) c.766T>G (p.Ser256Ala) c.2738-45T>G (n.2738-45T>G) c.2481-50T>G (n.2481-50T>G) c.3124T>G (p.Ser1042Ala) c.3061T>G (p.Ser1021Ala) n.2095T>G c.3130T>G (p.Ser1044Ala) | |
1 | g.6467943A>G | CA338114216 | PLEKHG5 | c.2893T>C (p.Ser965Pro) c.3067T>C (p.Ser1023Pro) c.3004T>C (p.Ser1002Pro) n.3369T>C c.3100T>C (p.Ser1034Pro) c.3190T>C (p.Ser1064Pro) c.*3105T>C (n.*3105T>C) c.2250-50T>C (n.2250-50T>C) c.*2721T>C (n.*2721T>C) c.766T>C (p.Ser256Pro) c.2738-45T>C (n.2738-45T>C) c.2481-50T>C (n.2481-50T>C) c.3124T>C (p.Ser1042Pro) c.3061T>C (p.Ser1021Pro) n.2095T>C c.3130T>C (p.Ser1044Pro) | |
1 | g.6467943A>T | CA338114211 | PLEKHG5 | c.2893T>A (p.Ser965Thr) c.3067T>A (p.Ser1023Thr) c.3004T>A (p.Ser1002Thr) n.3369T>A c.3100T>A (p.Ser1034Thr) c.3190T>A (p.Ser1064Thr) c.*3105T>A (n.*3105T>A) c.2250-50T>A (n.2250-50T>A) c.*2721T>A (n.*2721T>A) c.766T>A (p.Ser256Thr) c.2738-45T>A (n.2738-45T>A) c.2481-50T>A (n.2481-50T>A) c.3124T>A (p.Ser1042Thr) c.3061T>A (p.Ser1021Thr) n.2095T>A c.3130T>A (p.Ser1044Thr) | |
1 | g.6467943_6467944insCC | CA2838586765 | PLEKHG5 | c.2892_2893insGG (p.Ser965GlyfsTer20) c.3066_3067insGG (p.Ser1023GlyfsTer20) c.3003_3004insGG (p.Ser1002GlyfsTer20) n.3368_3369insGG c.3099_3100insGG (p.Ser1034GlyfsTer20) c.3189_3190insGG (p.Ser1064GlyfsTer20) c.*3104_*3105insGG (n.*3104_*3105insGG) c.2250-51_2250-50insGG (n.2250-51_2250-50insGG) c.*2720_*2721insGG (n.*2720_*2721insGG) c.765_766insGG (p.Ser256GlyfsTer20) c.2738-46_2738-45insGG (n.2738-46_2738-45insGG) c.2481-51_2481-50insGG (n.2481-51_2481-50insGG) c.3123_3124insGG (p.Ser1042GlyfsTer20) c.3060_3061insGG (p.Ser1021GlyfsTer20) n.2094_2095insGG c.3129_3130insGG (p.Ser1044GlyfsTer20) | |
1 | g.6467944G>A | CA416022046 | PLEKHG5 | c.2892C>T (p.Ala964=) c.3066C>T (p.Ala1022=) c.3003C>T (p.Ala1001=) n.3368C>T c.3099C>T (p.Ala1033=) c.3189C>T (p.Ala1063=) c.*3104C>T (n.*3104C>T) c.2250-51C>T (n.2250-51C>T) c.*2720C>T (n.*2720C>T) c.765C>T (p.Ala255=) c.2738-46C>T (n.2738-46C>T) c.2481-51C>T (n.2481-51C>T) c.3123C>T (p.Ala1041=) c.3060C>T (p.Ala1020=) n.2094C>T c.3129C>T (p.Ala1043=) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.6467944G>C | CA416022047 | PLEKHG5 | c.2892C>G (p.Ala964=) c.3066C>G (p.Ala1022=) c.3003C>G (p.Ala1001=) n.3368C>G c.3099C>G (p.Ala1033=) c.3189C>G (p.Ala1063=) c.*3104C>G (n.*3104C>G) c.2250-51C>G (n.2250-51C>G) c.*2720C>G (n.*2720C>G) c.765C>G (p.Ala255=) c.2738-46C>G (n.2738-46C>G) c.2481-51C>G (n.2481-51C>G) c.3123C>G (p.Ala1041=) c.3060C>G (p.Ala1020=) n.2094C>G c.3129C>G (p.Ala1043=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.6467944G= | CA1151516594 | PLEKHG5 | c.2892C= (p.Ala964=) c.3066C= (p.Ala1022=) c.3003C= (p.Ala1001=) n.3368C= c.3099C= (p.Ala1033=) c.3189C= (p.Ala1063=) c.*3104C= (n.*3104C=) c.2250-51C= (n.2250-51C=) c.*2720C= (n.*2720C=) c.765C= (p.Ala255=) c.2738-46C= (n.2738-46C=) c.2481-51C= (n.2481-51C=) c.3123C= (p.Ala1041=) c.3060C= (p.Ala1020=) n.2094C= c.3129C= (p.Ala1043=) | |
1 | g.6467944G>T | CA416022048 | PLEKHG5 | c.2892C>A (p.Ala964=) c.3066C>A (p.Ala1022=) c.3003C>A (p.Ala1001=) n.3368C>A c.3099C>A (p.Ala1033=) c.3189C>A (p.Ala1063=) c.*3104C>A (n.*3104C>A) c.2250-51C>A (n.2250-51C>A) c.*2720C>A (n.*2720C>A) c.765C>A (p.Ala255=) c.2738-46C>A (n.2738-46C>A) c.2481-51C>A (n.2481-51C>A) c.3123C>A (p.Ala1041=) c.3060C>A (p.Ala1020=) n.2094C>A c.3129C>A (p.Ala1043=) | |
1 | g.6467945G>A | CA338114222 | PLEKHG5 | c.2891C>T (p.Ala964Val) c.3065C>T (p.Ala1022Val) c.3002C>T (p.Ala1001Val) n.3367C>T c.3098C>T (p.Ala1033Val) c.3188C>T (p.Ala1063Val) c.*3103C>T (n.*3103C>T) c.2250-52C>T (n.2250-52C>T) c.*2719C>T (n.*2719C>T) c.764C>T (p.Ala255Val) c.2738-47C>T (n.2738-47C>T) c.2481-52C>T (n.2481-52C>T) c.3122C>T (p.Ala1041Val) c.3059C>T (p.Ala1020Val) n.2093C>T c.3128C>T (p.Ala1043Val) | gnomAD v4 |
1 | g.6467945G>C | CA338114223 | PLEKHG5 | c.2891C>G (p.Ala964Gly) c.3065C>G (p.Ala1022Gly) c.3002C>G (p.Ala1001Gly) n.3367C>G c.3098C>G (p.Ala1033Gly) c.3188C>G (p.Ala1063Gly) c.*3103C>G (n.*3103C>G) c.2250-52C>G (n.2250-52C>G) c.*2719C>G (n.*2719C>G) c.764C>G (p.Ala255Gly) c.2738-47C>G (n.2738-47C>G) c.2481-52C>G (n.2481-52C>G) c.3122C>G (p.Ala1041Gly) c.3059C>G (p.Ala1020Gly) n.2093C>G c.3128C>G (p.Ala1043Gly) | |
1 | g.6467945G>T | CA338114225 | PLEKHG5 | c.2891C>A (p.Ala964Asp) c.3065C>A (p.Ala1022Asp) c.3002C>A (p.Ala1001Asp) n.3367C>A c.3098C>A (p.Ala1033Asp) c.3188C>A (p.Ala1063Asp) c.*3103C>A (n.*3103C>A) c.2250-52C>A (n.2250-52C>A) c.*2719C>A (n.*2719C>A) c.764C>A (p.Ala255Asp) c.2738-47C>A (n.2738-47C>A) c.2481-52C>A (n.2481-52C>A) c.3122C>A (p.Ala1041Asp) c.3059C>A (p.Ala1020Asp) n.2093C>A c.3128C>A (p.Ala1043Asp) | |
1 | g.6467946C>A | CA561072 | PLEKHG5 | c.2890G>T (p.Ala964Ser) c.3064G>T (p.Ala1022Ser) c.3001G>T (p.Ala1001Ser) n.3366G>T c.3097G>T (p.Ala1033Ser) c.3187G>T (p.Ala1063Ser) c.*3102G>T (n.*3102G>T) c.2250-53G>T (n.2250-53G>T) c.*2718G>T (n.*2718G>T) c.763G>T (p.Ala255Ser) c.2738-48G>T (n.2738-48G>T) c.2481-53G>T (n.2481-53G>T) c.3121G>T (p.Ala1041Ser) c.3058G>T (p.Ala1020Ser) n.2092G>T c.3127G>T (p.Ala1043Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.6467946C= | CA1151516606 | PLEKHG5 | c.2890G= (p.Ala964=) c.3064G= (p.Ala1022=) c.3001G= (p.Ala1001=) n.3366G= c.3097G= (p.Ala1033=) c.3187G= (p.Ala1063=) c.*3102G= (n.*3102G=) c.2250-53G= (n.2250-53G=) c.*2718G= (n.*2718G=) c.763G= (p.Ala255=) c.2738-48G= (n.2738-48G=) c.2481-53G= (n.2481-53G=) c.3121G= (p.Ala1041=) c.3058G= (p.Ala1020=) n.2092G= c.3127G= (p.Ala1043=) | |
1 | g.6467946C>G | CA338114230 | PLEKHG5 | c.2890G>C (p.Ala964Pro) c.3064G>C (p.Ala1022Pro) c.3001G>C (p.Ala1001Pro) n.3366G>C c.3097G>C (p.Ala1033Pro) c.3187G>C (p.Ala1063Pro) c.*3102G>C (n.*3102G>C) c.2250-53G>C (n.2250-53G>C) c.*2718G>C (n.*2718G>C) c.763G>C (p.Ala255Pro) c.2738-48G>C (n.2738-48G>C) c.2481-53G>C (n.2481-53G>C) c.3121G>C (p.Ala1041Pro) c.3058G>C (p.Ala1020Pro) n.2092G>C c.3127G>C (p.Ala1043Pro) | gnomAD v4 |
1 | g.6467946C>T | CA338114233 | PLEKHG5 | c.2890G>A (p.Ala964Thr) c.3064G>A (p.Ala1022Thr) c.3001G>A (p.Ala1001Thr) n.3366G>A c.3097G>A (p.Ala1033Thr) c.3187G>A (p.Ala1063Thr) c.*3102G>A (n.*3102G>A) c.2250-53G>A (n.2250-53G>A) c.*2718G>A (n.*2718G>A) c.763G>A (p.Ala255Thr) c.2738-48G>A (n.2738-48G>A) c.2481-53G>A (n.2481-53G>A) c.3121G>A (p.Ala1041Thr) c.3058G>A (p.Ala1020Thr) n.2092G>A c.3127G>A (p.Ala1043Thr) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.6467950dup | CA2832533826 | PLEKHG5 | c.2890dup (p.Ala964GlyfsTer8) c.3064dup (p.Ala1022GlyfsTer8) c.3001dup (p.Ala1001GlyfsTer8) n.3366dup c.3097dup (p.Ala1033GlyfsTer8) c.3187dup (p.Ala1063GlyfsTer8) c.*3102dup (n.*3102dup) c.2250-53dup (n.2250-53dup) c.*2718dup (n.*2718dup) c.763dup (p.Ala255GlyfsTer8) c.2738-48dup (n.2738-48dup) c.2481-53dup (n.2481-53dup) c.3121dup (p.Ala1041GlyfsTer8) c.3058dup (p.Ala1020GlyfsTer8) n.2092dup c.3127dup (p.Ala1043GlyfsTer8) | |
1 | g.6467950del | CA2642996102 | PLEKHG5 | c.2890del (p.Ala964ProfsTer20) c.3064del (p.Ala1022ProfsTer20) c.3001del (p.Ala1001ProfsTer20) n.3366del c.3097del (p.Ala1033ProfsTer20) c.3187del (p.Ala1063ProfsTer20) c.*3102del (n.*3102del) c.2250-53del (n.2250-53del) c.*2718del (n.*2718del) c.763del (p.Ala255ProfsTer20) c.2738-48del (n.2738-48del) c.2481-53del (n.2481-53del) c.3121del (p.Ala1041ProfsTer20) c.3058del (p.Ala1020ProfsTer20) n.2092del c.3127del (p.Ala1043ProfsTer20) | gnomAD v4 |
1 | g.6467947C>A | CA416022049 | PLEKHG5 | c.2889G>T (p.Gly963=) c.3063G>T (p.Gly1021=) c.3000G>T (p.Gly1000=) n.3365G>T c.3096G>T (p.Gly1032=) c.3186G>T (p.Gly1062=) c.*3101G>T (n.*3101G>T) c.2250-54G>T (n.2250-54G>T) c.*2717G>T (n.*2717G>T) c.762G>T (p.Gly254=) c.2738-49G>T (n.2738-49G>T) c.2481-54G>T (n.2481-54G>T) c.3120G>T (p.Gly1040=) c.3057G>T (p.Gly1019=) n.2091G>T c.3126G>T (p.Gly1042=) | |
1 | g.6467947C= | CA1151516613 | PLEKHG5 | c.2889G= (p.Gly963=) c.3063G= (p.Gly1021=) c.3000G= (p.Gly1000=) n.3365G= c.3096G= (p.Gly1032=) c.3186G= (p.Gly1062=) c.*3101G= (n.*3101G=) c.2250-54G= (n.2250-54G=) c.*2717G= (n.*2717G=) c.762G= (p.Gly254=) c.2738-49G= (n.2738-49G=) c.2481-54G= (n.2481-54G=) c.3120G= (p.Gly1040=) c.3057G= (p.Gly1019=) n.2091G= c.3126G= (p.Gly1042=) | |
1 | g.6467947C>G | CA416022050 | PLEKHG5 | c.2889G>C (p.Gly963=) c.3063G>C (p.Gly1021=) c.3000G>C (p.Gly1000=) n.3365G>C c.3096G>C (p.Gly1032=) c.3186G>C (p.Gly1062=) c.*3101G>C (n.*3101G>C) c.2250-54G>C (n.2250-54G>C) c.*2717G>C (n.*2717G>C) c.762G>C (p.Gly254=) c.2738-49G>C (n.2738-49G>C) c.2481-54G>C (n.2481-54G>C) c.3120G>C (p.Gly1040=) c.3057G>C (p.Gly1019=) n.2091G>C c.3126G>C (p.Gly1042=) | |
1 | g.6467947C>T | CA416022051 | PLEKHG5 | c.2889G>A (p.Gly963=) c.3063G>A (p.Gly1021=) c.3000G>A (p.Gly1000=) n.3365G>A c.3096G>A (p.Gly1032=) c.3186G>A (p.Gly1062=) c.*3101G>A (n.*3101G>A) c.2250-54G>A (n.2250-54G>A) c.*2717G>A (n.*2717G>A) c.762G>A (p.Gly254=) c.2738-49G>A (n.2738-49G>A) c.2481-54G>A (n.2481-54G>A) c.3120G>A (p.Gly1040=) c.3057G>A (p.Gly1019=) n.2091G>A c.3126G>A (p.Gly1042=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.6467948C>A | CA338114235 | PLEKHG5 | c.2888G>T (p.Gly963Val) c.3062G>T (p.Gly1021Val) c.2999G>T (p.Gly1000Val) n.3364G>T c.3095G>T (p.Gly1032Val) c.3185G>T (p.Gly1062Val) c.*3100G>T (n.*3100G>T) c.2250-55G>T (n.2250-55G>T) c.*2716G>T (n.*2716G>T) c.761G>T (p.Gly254Val) c.2738-50G>T (n.2738-50G>T) c.2481-55G>T (n.2481-55G>T) c.3119G>T (p.Gly1040Val) c.3056G>T (p.Gly1019Val) n.2090G>T c.3125G>T (p.Gly1042Val) | |
1 | g.6467948C>G | CA338114237 | PLEKHG5 | c.2888G>C (p.Gly963Ala) c.3062G>C (p.Gly1021Ala) c.2999G>C (p.Gly1000Ala) n.3364G>C c.3095G>C (p.Gly1032Ala) c.3185G>C (p.Gly1062Ala) c.*3100G>C (n.*3100G>C) c.2250-55G>C (n.2250-55G>C) c.*2716G>C (n.*2716G>C) c.761G>C (p.Gly254Ala) c.2738-50G>C (n.2738-50G>C) c.2481-55G>C (n.2481-55G>C) c.3119G>C (p.Gly1040Ala) c.3056G>C (p.Gly1019Ala) n.2090G>C c.3125G>C (p.Gly1042Ala) | |
1 | g.6467948C>T | CA338114240 | PLEKHG5 | c.2888G>A (p.Gly963Glu) c.3062G>A (p.Gly1021Glu) c.2999G>A (p.Gly1000Glu) n.3364G>A c.3095G>A (p.Gly1032Glu) c.3185G>A (p.Gly1062Glu) c.*3100G>A (n.*3100G>A) c.2250-55G>A (n.2250-55G>A) c.*2716G>A (n.*2716G>A) c.761G>A (p.Gly254Glu) c.2738-50G>A (n.2738-50G>A) c.2481-55G>A (n.2481-55G>A) c.3119G>A (p.Gly1040Glu) c.3056G>A (p.Gly1019Glu) n.2090G>A c.3125G>A (p.Gly1042Glu) | ClinVar dbSNP |
1 | g.6467949C>A | CA561073 | PLEKHG5 | c.2887G>T (p.Gly963Trp) c.3061G>T (p.Gly1021Trp) c.2998G>T (p.Gly1000Trp) n.3363G>T c.3094G>T (p.Gly1032Trp) c.3184G>T (p.Gly1062Trp) c.*3099G>T (n.*3099G>T) c.2250-56G>T (n.2250-56G>T) c.*2715G>T (n.*2715G>T) c.760G>T (p.Gly254Trp) c.2738-51G>T (n.2738-51G>T) c.2481-56G>T (n.2481-56G>T) c.3118G>T (p.Gly1040Trp) c.3055G>T (p.Gly1019Trp) n.2089G>T c.3124G>T (p.Gly1042Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.6467949C= | CA1151516623 | PLEKHG5 | c.2887G= (p.Gly963=) c.3061G= (p.Gly1021=) c.2998G= (p.Gly1000=) n.3363G= c.3094G= (p.Gly1032=) c.3184G= (p.Gly1062=) c.*3099G= (n.*3099G=) c.2250-56G= (n.2250-56G=) c.*2715G= (n.*2715G=) c.760G= (p.Gly254=) c.2738-51G= (n.2738-51G=) c.2481-56G= (n.2481-56G=) c.3118G= (p.Gly1040=) c.3055G= (p.Gly1019=) n.2089G= c.3124G= (p.Gly1042=) | |
1 | g.6467949C>G | CA338114244 | PLEKHG5 | c.2887G>C (p.Gly963Arg) c.3061G>C (p.Gly1021Arg) c.2998G>C (p.Gly1000Arg) n.3363G>C c.3094G>C (p.Gly1032Arg) c.3184G>C (p.Gly1062Arg) c.*3099G>C (n.*3099G>C) c.2250-56G>C (n.2250-56G>C) c.*2715G>C (n.*2715G>C) c.760G>C (p.Gly254Arg) c.2738-51G>C (n.2738-51G>C) c.2481-56G>C (n.2481-56G>C) c.3118G>C (p.Gly1040Arg) c.3055G>C (p.Gly1019Arg) n.2089G>C c.3124G>C (p.Gly1042Arg) | |
1 | g.6467949C>T | CA338114247 | PLEKHG5 | c.2887G>A (p.Gly963Arg) c.3061G>A (p.Gly1021Arg) c.2998G>A (p.Gly1000Arg) n.3363G>A c.3094G>A (p.Gly1032Arg) c.3184G>A (p.Gly1062Arg) c.*3099G>A (n.*3099G>A) c.2250-56G>A (n.2250-56G>A) c.*2715G>A (n.*2715G>A) c.760G>A (p.Gly254Arg) c.2738-51G>A (n.2738-51G>A) c.2481-56G>A (n.2481-56G>A) c.3118G>A (p.Gly1040Arg) c.3055G>A (p.Gly1019Arg) n.2089G>A c.3124G>A (p.Gly1042Arg) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
1 | g.6467950C>A | CA416022054 | PLEKHG5 | c.2886G>T (p.Ser962=) c.3060G>T (p.Ser1020=) c.2997G>T (p.Ser999=) n.3362G>T c.3093G>T (p.Ser1031=) c.3183G>T (p.Ser1061=) c.*3098G>T (n.*3098G>T) c.2250-57G>T (n.2250-57G>T) c.*2714G>T (n.*2714G>T) c.759G>T (p.Ser253=) c.2738-52G>T (n.2738-52G>T) c.2481-57G>T (n.2481-57G>T) c.3117G>T (p.Ser1039=) c.3054G>T (p.Ser1018=) n.2088G>T c.3123G>T (p.Ser1041=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.6467950C= | CA1149058353 | PLEKHG5 | c.2886G= (p.Ser962=) c.3060G= (p.Ser1020=) c.2997G= (p.Ser999=) n.3362G= c.3093G= (p.Ser1031=) c.3183G= (p.Ser1061=) c.*3098G= (n.*3098G=) c.2250-57G= (n.2250-57G=) c.*2714G= (n.*2714G=) c.759G= (p.Ser253=) c.2738-52G= (n.2738-52G=) c.2481-57G= (n.2481-57G=) c.3117G= (p.Ser1039=) c.3054G= (p.Ser1018=) n.2088G= c.3123G= (p.Ser1041=) | |
1 | g.6467950C>G | CA416022055 | PLEKHG5 | c.2886G>C (p.Ser962=) c.3060G>C (p.Ser1020=) c.2997G>C (p.Ser999=) n.3362G>C c.3093G>C (p.Ser1031=) c.3183G>C (p.Ser1061=) c.*3098G>C (n.*3098G>C) c.2250-57G>C (n.2250-57G>C) c.*2714G>C (n.*2714G>C) c.759G>C (p.Ser253=) c.2738-52G>C (n.2738-52G>C) c.2481-57G>C (n.2481-57G>C) c.3117G>C (p.Ser1039=) c.3054G>C (p.Ser1018=) n.2088G>C c.3123G>C (p.Ser1041=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.6467950C>T | CA561074 | PLEKHG5 | c.2886G>A (p.Ser962=) c.3060G>A (p.Ser1020=) c.2997G>A (p.Ser999=) n.3362G>A c.3093G>A (p.Ser1031=) c.3183G>A (p.Ser1061=) c.*3098G>A (n.*3098G>A) c.2250-57G>A (n.2250-57G>A) c.*2714G>A (n.*2714G>A) c.759G>A (p.Ser253=) c.2738-52G>A (n.2738-52G>A) c.2481-57G>A (n.2481-57G>A) c.3117G>A (p.Ser1039=) c.3054G>A (p.Ser1018=) n.2088G>A c.3123G>A (p.Ser1041=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.6467951G>A | CA561075 | PLEKHG5 | c.2885C>T (p.Ser962Leu) c.3059C>T (p.Ser1020Leu) c.2996C>T (p.Ser999Leu) n.3361C>T c.3092C>T (p.Ser1031Leu) c.3182C>T (p.Ser1061Leu) c.*3097C>T (n.*3097C>T) c.2250-58C>T (n.2250-58C>T) c.*2713C>T (n.*2713C>T) c.758C>T (p.Ser253Leu) c.2738-53C>T (n.2738-53C>T) c.2481-58C>T (n.2481-58C>T) c.3116C>T (p.Ser1039Leu) c.3053C>T (p.Ser1018Leu) n.2087C>T c.3122C>T (p.Ser1041Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.6467951G>C | CA338114254 | PLEKHG5 | c.2885C>G (p.Ser962Trp) c.3059C>G (p.Ser1020Trp) c.2996C>G (p.Ser999Trp) n.3361C>G c.3092C>G (p.Ser1031Trp) c.3182C>G (p.Ser1061Trp) c.*3097C>G (n.*3097C>G) c.2250-58C>G (n.2250-58C>G) c.*2713C>G (n.*2713C>G) c.758C>G (p.Ser253Trp) c.2738-53C>G (n.2738-53C>G) c.2481-58C>G (n.2481-58C>G) c.3116C>G (p.Ser1039Trp) c.3053C>G (p.Ser1018Trp) n.2087C>G c.3122C>G (p.Ser1041Trp) | |
1 | g.6467951G= | CA1143663179 | PLEKHG5 | c.2885C= (p.Ser962=) c.3059C= (p.Ser1020=) c.2996C= (p.Ser999=) n.3361C= c.3092C= (p.Ser1031=) c.3182C= (p.Ser1061=) c.*3097C= (n.*3097C=) c.2250-58C= (n.2250-58C=) c.*2713C= (n.*2713C=) c.758C= (p.Ser253=) c.2738-53C= (n.2738-53C=) c.2481-58C= (n.2481-58C=) c.3116C= (p.Ser1039=) c.3053C= (p.Ser1018=) n.2087C= c.3122C= (p.Ser1041=) | |
1 | g.6467951G>T | CA338114248 | PLEKHG5 | c.2885C>A (p.Ser962Ter) c.3059C>A (p.Ser1020Ter) c.2996C>A (p.Ser999Ter) n.3361C>A c.3092C>A (p.Ser1031Ter) c.3182C>A (p.Ser1061Ter) c.*3097C>A (n.*3097C>A) c.2250-58C>A (n.2250-58C>A) c.*2713C>A (n.*2713C>A) c.758C>A (p.Ser253Ter) c.2738-53C>A (n.2738-53C>A) c.2481-58C>A (n.2481-58C>A) c.3116C>A (p.Ser1039Ter) c.3053C>A (p.Ser1018Ter) n.2087C>A c.3122C>A (p.Ser1041Ter) | dbSNP gnomAD v4 |
1 | g.6467952A>C | CA338114271 | PLEKHG5 | c.2884T>G (p.Ser962Ala) c.3058T>G (p.Ser1020Ala) c.2995T>G (p.Ser999Ala) n.3360T>G c.3091T>G (p.Ser1031Ala) c.3181T>G (p.Ser1061Ala) c.*3096T>G (n.*3096T>G) c.2250-59T>G (n.2250-59T>G) c.*2712T>G (n.*2712T>G) c.757T>G (p.Ser253Ala) c.2738-54T>G (n.2738-54T>G) c.2481-59T>G (n.2481-59T>G) c.3115T>G (p.Ser1039Ala) c.3052T>G (p.Ser1018Ala) n.2086T>G c.3121T>G (p.Ser1041Ala) | |
1 | g.6467952A>G | CA338114275 | PLEKHG5 | c.2884T>C (p.Ser962Pro) c.3058T>C (p.Ser1020Pro) c.2995T>C (p.Ser999Pro) n.3360T>C c.3091T>C (p.Ser1031Pro) c.3181T>C (p.Ser1061Pro) c.*3096T>C (n.*3096T>C) c.2250-59T>C (n.2250-59T>C) c.*2712T>C (n.*2712T>C) c.757T>C (p.Ser253Pro) c.2738-54T>C (n.2738-54T>C) c.2481-59T>C (n.2481-59T>C) c.3115T>C (p.Ser1039Pro) c.3052T>C (p.Ser1018Pro) n.2086T>C c.3121T>C (p.Ser1041Pro) | gnomAD v4 |
1 | g.6467952A>T | CA338114284 | PLEKHG5 | c.2884T>A (p.Ser962Thr) c.3058T>A (p.Ser1020Thr) c.2995T>A (p.Ser999Thr) n.3360T>A c.3091T>A (p.Ser1031Thr) c.3181T>A (p.Ser1061Thr) c.*3096T>A (n.*3096T>A) c.2250-59T>A (n.2250-59T>A) c.*2712T>A (n.*2712T>A) c.757T>A (p.Ser253Thr) c.2738-54T>A (n.2738-54T>A) c.2481-59T>A (n.2481-59T>A) c.3115T>A (p.Ser1039Thr) c.3052T>A (p.Ser1018Thr) n.2086T>A c.3121T>A (p.Ser1041Thr) | |
1 | g.6467953G>A | CA416022059 | PLEKHG5 | c.2883C>T (p.Pro961=) c.3057C>T (p.Pro1019=) c.2994C>T (p.Pro998=) n.3359C>T c.3090C>T (p.Pro1030=) c.3180C>T (p.Pro1060=) c.*3095C>T (n.*3095C>T) c.2250-60C>T (n.2250-60C>T) c.*2711C>T (n.*2711C>T) c.756C>T (p.Pro252=) c.2738-55C>T (n.2738-55C>T) c.2481-60C>T (n.2481-60C>T) c.3114C>T (p.Pro1038=) c.3051C>T (p.Pro1017=) n.2085C>T c.3120C>T (p.Pro1040=) | ClinVar gnomAD v4 |
1 | g.6467953G>C | CA416022060 | PLEKHG5 | c.2883C>G (p.Pro961=) c.3057C>G (p.Pro1019=) c.2994C>G (p.Pro998=) n.3359C>G c.3090C>G (p.Pro1030=) c.3180C>G (p.Pro1060=) c.*3095C>G (n.*3095C>G) c.2250-60C>G (n.2250-60C>G) c.*2711C>G (n.*2711C>G) c.756C>G (p.Pro252=) c.2738-55C>G (n.2738-55C>G) c.2481-60C>G (n.2481-60C>G) c.3114C>G (p.Pro1038=) c.3051C>G (p.Pro1017=) n.2085C>G c.3120C>G (p.Pro1040=) | |
1 | g.6467953G>T | CA416022061 | PLEKHG5 | c.2883C>A (p.Pro961=) c.3057C>A (p.Pro1019=) c.2994C>A (p.Pro998=) n.3359C>A c.3090C>A (p.Pro1030=) c.3180C>A (p.Pro1060=) c.*3095C>A (n.*3095C>A) c.2250-60C>A (n.2250-60C>A) c.*2711C>A (n.*2711C>A) c.756C>A (p.Pro252=) c.2738-55C>A (n.2738-55C>A) c.2481-60C>A (n.2481-60C>A) c.3114C>A (p.Pro1038=) c.3051C>A (p.Pro1017=) n.2085C>A c.3120C>A (p.Pro1040=) | dbSNP gnomAD v4 |
1 | g.6467954G>A | CA338114288 | PLEKHG5 | c.2882C>T (p.Pro961Leu) c.3056C>T (p.Pro1019Leu) c.2993C>T (p.Pro998Leu) n.3358C>T c.3089C>T (p.Pro1030Leu) c.3179C>T (p.Pro1060Leu) c.*3094C>T (n.*3094C>T) c.2250-61C>T (n.2250-61C>T) c.*2710C>T (n.*2710C>T) c.755C>T (p.Pro252Leu) c.2738-56C>T (n.2738-56C>T) c.2481-61C>T (n.2481-61C>T) c.3113C>T (p.Pro1038Leu) c.3050C>T (p.Pro1017Leu) n.2084C>T c.3119C>T (p.Pro1040Leu) | |
1 | g.6467954G>C | CA338114290 | PLEKHG5 | c.2882C>G (p.Pro961Arg) c.3056C>G (p.Pro1019Arg) c.2993C>G (p.Pro998Arg) n.3358C>G c.3089C>G (p.Pro1030Arg) c.3179C>G (p.Pro1060Arg) c.*3094C>G (n.*3094C>G) c.2250-61C>G (n.2250-61C>G) c.*2710C>G (n.*2710C>G) c.755C>G (p.Pro252Arg) c.2738-56C>G (n.2738-56C>G) c.2481-61C>G (n.2481-61C>G) c.3113C>G (p.Pro1038Arg) c.3050C>G (p.Pro1017Arg) n.2084C>G c.3119C>G (p.Pro1040Arg) | |
1 | g.6467954G>T | CA338114293 | PLEKHG5 | c.2882C>A (p.Pro961His) c.3056C>A (p.Pro1019His) c.2993C>A (p.Pro998His) n.3358C>A c.3089C>A (p.Pro1030His) c.3179C>A (p.Pro1060His) c.*3094C>A (n.*3094C>A) c.2250-61C>A (n.2250-61C>A) c.*2710C>A (n.*2710C>A) c.755C>A (p.Pro252His) c.2738-56C>A (n.2738-56C>A) c.2481-61C>A (n.2481-61C>A) c.3113C>A (p.Pro1038His) c.3050C>A (p.Pro1017His) n.2084C>A c.3119C>A (p.Pro1040His) | |
1 | g.6467955G>A | CA338114295 | PLEKHG5 | c.2881C>T (p.Pro961Ser) c.3055C>T (p.Pro1019Ser) c.2992C>T (p.Pro998Ser) n.3357C>T c.3088C>T (p.Pro1030Ser) c.3178C>T (p.Pro1060Ser) c.*3093C>T (n.*3093C>T) c.2250-62C>T (n.2250-62C>T) c.*2709C>T (n.*2709C>T) c.754C>T (p.Pro252Ser) c.2738-57C>T (n.2738-57C>T) c.2481-62C>T (n.2481-62C>T) c.3112C>T (p.Pro1038Ser) c.3049C>T (p.Pro1017Ser) n.2083C>T c.3118C>T (p.Pro1040Ser) | |
1 | g.6467955G>C | CA338114298 | PLEKHG5 | c.2881C>G (p.Pro961Ala) c.3055C>G (p.Pro1019Ala) c.2992C>G (p.Pro998Ala) n.3357C>G c.3088C>G (p.Pro1030Ala) c.3178C>G (p.Pro1060Ala) c.*3093C>G (n.*3093C>G) c.2250-62C>G (n.2250-62C>G) c.*2709C>G (n.*2709C>G) c.754C>G (p.Pro252Ala) c.2738-57C>G (n.2738-57C>G) c.2481-62C>G (n.2481-62C>G) c.3112C>G (p.Pro1038Ala) c.3049C>G (p.Pro1017Ala) n.2083C>G c.3118C>G (p.Pro1040Ala) | |
1 | g.6467955G>T | CA338114300 | PLEKHG5 | c.2881C>A (p.Pro961Thr) c.3055C>A (p.Pro1019Thr) c.2992C>A (p.Pro998Thr) n.3357C>A c.3088C>A (p.Pro1030Thr) c.3178C>A (p.Pro1060Thr) c.*3093C>A (n.*3093C>A) c.2250-62C>A (n.2250-62C>A) c.*2709C>A (n.*2709C>A) c.754C>A (p.Pro252Thr) c.2738-57C>A (n.2738-57C>A) c.2481-62C>A (n.2481-62C>A) c.3112C>A (p.Pro1038Thr) c.3049C>A (p.Pro1017Thr) n.2083C>A c.3118C>A (p.Pro1040Thr) | gnomAD v4 |
1 | g.6467955_6467956del | CA2740090571 | PLEKHG5 | c.2880_2881del (p.Pro961LeufsTer10) c.3054_3055del (p.Pro1019LeufsTer10) c.2991_2992del (p.Pro998LeufsTer10) n.3356_3357del c.3087_3088del (p.Pro1030LeufsTer10) c.3177_3178del (p.Pro1060LeufsTer10) c.*3092_*3093del (n.*3092_*3093del) c.2250-63_2250-62del (n.2250-63_2250-62del) c.*2708_*2709del (n.*2708_*2709del) c.753_754del (p.Pro252LeufsTer10) c.2738-58_2738-57del (n.2738-58_2738-57del) c.2481-63_2481-62del (n.2481-63_2481-62del) c.3111_3112del (p.Pro1038LeufsTer10) c.3048_3049del (p.Pro1017LeufsTer10) n.2082_2083del c.3117_3118del (p.Pro1040LeufsTer10) | ClinVar |
1 | g.6467956C>A | CA416022062 | PLEKHG5 | c.2880G>T (p.Leu960=) c.3054G>T (p.Leu1018=) c.2991G>T (p.Leu997=) n.3356G>T c.3087G>T (p.Leu1029=) c.3177G>T (p.Leu1059=) c.*3092G>T (n.*3092G>T) c.2250-63G>T (n.2250-63G>T) c.*2708G>T (n.*2708G>T) c.753G>T (p.Leu251=) c.2738-58G>T (n.2738-58G>T) c.2481-63G>T (n.2481-63G>T) c.3111G>T (p.Leu1037=) c.3048G>T (p.Leu1016=) n.2082G>T c.3117G>T (p.Leu1039=) | gnomAD v4 |
1 | g.6467956C= | CA1151516641 | PLEKHG5 | c.2880G= (p.Leu960=) c.3054G= (p.Leu1018=) c.2991G= (p.Leu997=) n.3356G= c.3087G= (p.Leu1029=) c.3177G= (p.Leu1059=) c.*3092G= (n.*3092G=) c.2250-63G= (n.2250-63G=) c.*2708G= (n.*2708G=) c.753G= (p.Leu251=) c.2738-58G= (n.2738-58G=) c.2481-63G= (n.2481-63G=) c.3111G= (p.Leu1037=) c.3048G= (p.Leu1016=) n.2082G= c.3117G= (p.Leu1039=) | |
1 | g.6467956C>G | CA416022063 | PLEKHG5 | c.2880G>C (p.Leu960=) c.3054G>C (p.Leu1018=) c.2991G>C (p.Leu997=) n.3356G>C c.3087G>C (p.Leu1029=) c.3177G>C (p.Leu1059=) c.*3092G>C (n.*3092G>C) c.2250-63G>C (n.2250-63G>C) c.*2708G>C (n.*2708G>C) c.753G>C (p.Leu251=) c.2738-58G>C (n.2738-58G>C) c.2481-63G>C (n.2481-63G>C) c.3111G>C (p.Leu1037=) c.3048G>C (p.Leu1016=) n.2082G>C c.3117G>C (p.Leu1039=) | |
1 | g.6467956C>T | CA416022064 | PLEKHG5 | c.2880G>A (p.Leu960=) c.3054G>A (p.Leu1018=) c.2991G>A (p.Leu997=) n.3356G>A c.3087G>A (p.Leu1029=) c.3177G>A (p.Leu1059=) c.*3092G>A (n.*3092G>A) c.2250-63G>A (n.2250-63G>A) c.*2708G>A (n.*2708G>A) c.753G>A (p.Leu251=) c.2738-58G>A (n.2738-58G>A) c.2481-63G>A (n.2481-63G>A) c.3111G>A (p.Leu1037=) c.3048G>A (p.Leu1016=) n.2082G>A c.3117G>A (p.Leu1039=) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.6467957A= | CA1151516644 | PLEKHG5 | c.2879T= (p.Leu960=) c.3053T= (p.Leu1018=) c.2990T= (p.Leu997=) n.3355T= c.3086T= (p.Leu1029=) c.3176T= (p.Leu1059=) c.*3091T= (n.*3091T=) c.2250-64T= (n.2250-64T=) c.*2707T= (n.*2707T=) c.752T= (p.Leu251=) c.2738-59T= (n.2738-59T=) c.2481-64T= (n.2481-64T=) c.3110T= (p.Leu1037=) c.3047T= (p.Leu1016=) n.2081T= c.3116T= (p.Leu1039=) | |
1 | g.6467957A>C | CA338114302 | PLEKHG5 | c.2879T>G (p.Leu960Arg) c.3053T>G (p.Leu1018Arg) c.2990T>G (p.Leu997Arg) n.3355T>G c.3086T>G (p.Leu1029Arg) c.3176T>G (p.Leu1059Arg) c.*3091T>G (n.*3091T>G) c.2250-64T>G (n.2250-64T>G) c.*2707T>G (n.*2707T>G) c.752T>G (p.Leu251Arg) c.2738-59T>G (n.2738-59T>G) c.2481-64T>G (n.2481-64T>G) c.3110T>G (p.Leu1037Arg) c.3047T>G (p.Leu1016Arg) n.2081T>G c.3116T>G (p.Leu1039Arg) | ClinVar dbSNP gnomAD v4 |
1 | g.6467957A>G | CA338114305 | PLEKHG5 | c.2879T>C (p.Leu960Pro) c.3053T>C (p.Leu1018Pro) c.2990T>C (p.Leu997Pro) n.3355T>C c.3086T>C (p.Leu1029Pro) c.3176T>C (p.Leu1059Pro) c.*3091T>C (n.*3091T>C) c.2250-64T>C (n.2250-64T>C) c.*2707T>C (n.*2707T>C) c.752T>C (p.Leu251Pro) c.2738-59T>C (n.2738-59T>C) c.2481-64T>C (n.2481-64T>C) c.3110T>C (p.Leu1037Pro) c.3047T>C (p.Leu1016Pro) n.2081T>C c.3116T>C (p.Leu1039Pro) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.6467957A>T | CA338114308 | PLEKHG5 | c.2879T>A (p.Leu960Gln) c.3053T>A (p.Leu1018Gln) c.2990T>A (p.Leu997Gln) n.3355T>A c.3086T>A (p.Leu1029Gln) c.3176T>A (p.Leu1059Gln) c.*3091T>A (n.*3091T>A) c.2250-64T>A (n.2250-64T>A) c.*2707T>A (n.*2707T>A) c.752T>A (p.Leu251Gln) c.2738-59T>A (n.2738-59T>A) c.2481-64T>A (n.2481-64T>A) c.3110T>A (p.Leu1037Gln) c.3047T>A (p.Leu1016Gln) n.2081T>A c.3116T>A (p.Leu1039Gln) | |
1 | g.6467958G>A | CA416022065 | PLEKHG5 | c.2878C>T (p.Leu960=) c.3052C>T (p.Leu1018=) c.2989C>T (p.Leu997=) n.3354C>T c.3085C>T (p.Leu1029=) c.3175C>T (p.Leu1059=) c.*3090C>T (n.*3090C>T) c.2250-65C>T (n.2250-65C>T) c.*2706C>T (n.*2706C>T) c.751C>T (p.Leu251=) c.2738-60C>T (n.2738-60C>T) c.2481-65C>T (n.2481-65C>T) c.3109C>T (p.Leu1037=) c.3046C>T (p.Leu1016=) n.2080C>T c.3115C>T (p.Leu1039=) | |
1 | g.6467958G>C | CA338114311 | PLEKHG5 | c.2878C>G (p.Leu960Val) c.3052C>G (p.Leu1018Val) c.2989C>G (p.Leu997Val) n.3354C>G c.3085C>G (p.Leu1029Val) c.3175C>G (p.Leu1059Val) c.*3090C>G (n.*3090C>G) c.2250-65C>G (n.2250-65C>G) c.*2706C>G (n.*2706C>G) c.751C>G (p.Leu251Val) c.2738-60C>G (n.2738-60C>G) c.2481-65C>G (n.2481-65C>G) c.3109C>G (p.Leu1037Val) c.3046C>G (p.Leu1016Val) n.2080C>G c.3115C>G (p.Leu1039Val) | gnomAD v4 |
1 | g.6467958G>T | CA338114317 | PLEKHG5 | c.2878C>A (p.Leu960Met) c.3052C>A (p.Leu1018Met) c.2989C>A (p.Leu997Met) n.3354C>A c.3085C>A (p.Leu1029Met) c.3175C>A (p.Leu1059Met) c.*3090C>A (n.*3090C>A) c.2250-65C>A (n.2250-65C>A) c.*2706C>A (n.*2706C>A) c.751C>A (p.Leu251Met) c.2738-60C>A (n.2738-60C>A) c.2481-65C>A (n.2481-65C>A) c.3109C>A (p.Leu1037Met) c.3046C>A (p.Leu1016Met) n.2080C>A c.3115C>A (p.Leu1039Met) | |
1 | g.6467959G>A | CA416022066 | PLEKHG5 | c.2877C>T (p.Asp959=) c.3051C>T (p.Asp1017=) c.2988C>T (p.Asp996=) n.3353C>T c.3084C>T (p.Asp1028=) c.3174C>T (p.Asp1058=) c.*3089C>T (n.*3089C>T) c.2250-66C>T (n.2250-66C>T) c.*2705C>T (n.*2705C>T) c.750C>T (p.Asp250=) c.2738-61C>T (n.2738-61C>T) c.2481-66C>T (n.2481-66C>T) c.3108C>T (p.Asp1036=) c.3045C>T (p.Asp1015=) n.2079C>T c.3114C>T (p.Asp1038=) | gnomAD v4 |
1 | g.6467959G>C | CA338114324 | PLEKHG5 | c.2877C>G (p.Asp959Glu) c.3051C>G (p.Asp1017Glu) c.2988C>G (p.Asp996Glu) n.3353C>G c.3084C>G (p.Asp1028Glu) c.3174C>G (p.Asp1058Glu) c.*3089C>G (n.*3089C>G) c.2250-66C>G (n.2250-66C>G) c.*2705C>G (n.*2705C>G) c.750C>G (p.Asp250Glu) c.2738-61C>G (n.2738-61C>G) c.2481-66C>G (n.2481-66C>G) c.3108C>G (p.Asp1036Glu) c.3045C>G (p.Asp1015Glu) n.2079C>G c.3114C>G (p.Asp1038Glu) | |
1 | g.6467959G>T | CA338114320 | PLEKHG5 | c.2877C>A (p.Asp959Glu) c.3051C>A (p.Asp1017Glu) c.2988C>A (p.Asp996Glu) n.3353C>A c.3084C>A (p.Asp1028Glu) c.3174C>A (p.Asp1058Glu) c.*3089C>A (n.*3089C>A) c.2250-66C>A (n.2250-66C>A) c.*2705C>A (n.*2705C>A) c.750C>A (p.Asp250Glu) c.2738-61C>A (n.2738-61C>A) c.2481-66C>A (n.2481-66C>A) c.3108C>A (p.Asp1036Glu) c.3045C>A (p.Asp1015Glu) n.2079C>A c.3114C>A (p.Asp1038Glu) | |
1 | g.6467960T>A | CA338114329 | PLEKHG5 | c.2876A>T (p.Asp959Val) c.3050A>T (p.Asp1017Val) c.2987A>T (p.Asp996Val) n.3352A>T c.3083A>T (p.Asp1028Val) c.3173A>T (p.Asp1058Val) c.*3088A>T (n.*3088A>T) c.2250-67A>T (n.2250-67A>T) c.*2704A>T (n.*2704A>T) c.749A>T (p.Asp250Val) c.2738-62A>T (n.2738-62A>T) c.2481-67A>T (n.2481-67A>T) c.3107A>T (p.Asp1036Val) c.3044A>T (p.Asp1015Val) n.2078A>T c.3113A>T (p.Asp1038Val) | |
1 | g.6467960T>C | CA338114333 | PLEKHG5 | c.2876A>G (p.Asp959Gly) c.3050A>G (p.Asp1017Gly) c.2987A>G (p.Asp996Gly) n.3352A>G c.3083A>G (p.Asp1028Gly) c.3173A>G (p.Asp1058Gly) c.*3088A>G (n.*3088A>G) c.2250-67A>G (n.2250-67A>G) c.*2704A>G (n.*2704A>G) c.749A>G (p.Asp250Gly) c.2738-62A>G (n.2738-62A>G) c.2481-67A>G (n.2481-67A>G) c.3107A>G (p.Asp1036Gly) c.3044A>G (p.Asp1015Gly) n.2078A>G c.3113A>G (p.Asp1038Gly) | |
1 | g.6467960T>G | CA338114335 | PLEKHG5 | c.2876A>C (p.Asp959Ala) c.3050A>C (p.Asp1017Ala) c.2987A>C (p.Asp996Ala) n.3352A>C c.3083A>C (p.Asp1028Ala) c.3173A>C (p.Asp1058Ala) c.*3088A>C (n.*3088A>C) c.2250-67A>C (n.2250-67A>C) c.*2704A>C (n.*2704A>C) c.749A>C (p.Asp250Ala) c.2738-62A>C (n.2738-62A>C) c.2481-67A>C (n.2481-67A>C) c.3107A>C (p.Asp1036Ala) c.3044A>C (p.Asp1015Ala) n.2078A>C c.3113A>C (p.Asp1038Ala) | |
1 | g.6467961C>A | CA338114340 | PLEKHG5 | c.2875G>T (p.Asp959Tyr) c.3049G>T (p.Asp1017Tyr) c.2986G>T (p.Asp996Tyr) n.3351G>T c.3082G>T (p.Asp1028Tyr) c.3172G>T (p.Asp1058Tyr) c.*3087G>T (n.*3087G>T) c.2250-68G>T (n.2250-68G>T) c.*2703G>T (n.*2703G>T) c.748G>T (p.Asp250Tyr) c.2738-63G>T (n.2738-63G>T) c.2481-68G>T (n.2481-68G>T) c.3106G>T (p.Asp1036Tyr) c.3043G>T (p.Asp1015Tyr) n.2077G>T c.3112G>T (p.Asp1038Tyr) | |
1 | g.6467961C= | CA1151516649 | PLEKHG5 | c.2875G= (p.Asp959=) c.3049G= (p.Asp1017=) c.2986G= (p.Asp996=) n.3351G= c.3082G= (p.Asp1028=) c.3172G= (p.Asp1058=) c.*3087G= (n.*3087G=) c.2250-68G= (n.2250-68G=) c.*2703G= (n.*2703G=) c.748G= (p.Asp250=) c.2738-63G= (n.2738-63G=) c.2481-68G= (n.2481-68G=) c.3106G= (p.Asp1036=) c.3043G= (p.Asp1015=) n.2077G= c.3112G= (p.Asp1038=) | |
1 | g.6467961C>G | CA17233333 | PLEKHG5 | c.2875G>C (p.Asp959His) c.3049G>C (p.Asp1017His) c.2986G>C (p.Asp996His) n.3351G>C c.3082G>C (p.Asp1028His) c.3172G>C (p.Asp1058His) c.*3087G>C (n.*3087G>C) c.2250-68G>C (n.2250-68G>C) c.*2703G>C (n.*2703G>C) c.748G>C (p.Asp250His) c.2738-63G>C (n.2738-63G>C) c.2481-68G>C (n.2481-68G>C) c.3106G>C (p.Asp1036His) c.3043G>C (p.Asp1015His) n.2077G>C c.3112G>C (p.Asp1038His) | dbSNP gnomAD v4 |
1 | g.6467961C>T | CA338114344 | PLEKHG5 | c.2875G>A (p.Asp959Asn) c.3049G>A (p.Asp1017Asn) c.2986G>A (p.Asp996Asn) n.3351G>A c.3082G>A (p.Asp1028Asn) c.3172G>A (p.Asp1058Asn) c.*3087G>A (n.*3087G>A) c.2250-68G>A (n.2250-68G>A) c.*2703G>A (n.*2703G>A) c.748G>A (p.Asp250Asn) c.2738-63G>A (n.2738-63G>A) c.2481-68G>A (n.2481-68G>A) c.3106G>A (p.Asp1036Asn) c.3043G>A (p.Asp1015Asn) n.2077G>A c.3112G>A (p.Asp1038Asn) | dbSNP gnomAD v2 |
1 | g.6467962T>A | CA416022070 | PLEKHG5 | c.2874A>T (p.Gly958=) c.3048A>T (p.Gly1016=) c.2985A>T (p.Gly995=) n.3350A>T c.3081A>T (p.Gly1027=) c.3171A>T (p.Gly1057=) c.*3086A>T (n.*3086A>T) c.2250-69A>T (n.2250-69A>T) c.*2702A>T (n.*2702A>T) c.747A>T (p.Gly249=) c.2738-64A>T (n.2738-64A>T) c.2481-69A>T (n.2481-69A>T) c.3105A>T (p.Gly1035=) c.3042A>T (p.Gly1014=) n.2076A>T c.3111A>T (p.Gly1037=) | |
1 | g.6467962T>C | CA416022071 | PLEKHG5 | c.2874A>G (p.Gly958=) c.3048A>G (p.Gly1016=) c.2985A>G (p.Gly995=) n.3350A>G c.3081A>G (p.Gly1027=) c.3171A>G (p.Gly1057=) c.*3086A>G (n.*3086A>G) c.2250-69A>G (n.2250-69A>G) c.*2702A>G (n.*2702A>G) c.747A>G (p.Gly249=) c.2738-64A>G (n.2738-64A>G) c.2481-69A>G (n.2481-69A>G) c.3105A>G (p.Gly1035=) c.3042A>G (p.Gly1014=) n.2076A>G c.3111A>G (p.Gly1037=) | |
1 | g.6467962T>G | CA416022072 | PLEKHG5 | c.2874A>C (p.Gly958=) c.3048A>C (p.Gly1016=) c.2985A>C (p.Gly995=) n.3350A>C c.3081A>C (p.Gly1027=) c.3171A>C (p.Gly1057=) c.*3086A>C (n.*3086A>C) c.2250-69A>C (n.2250-69A>C) c.*2702A>C (n.*2702A>C) c.747A>C (p.Gly249=) c.2738-64A>C (n.2738-64A>C) c.2481-69A>C (n.2481-69A>C) c.3105A>C (p.Gly1035=) c.3042A>C (p.Gly1014=) n.2076A>C c.3111A>C (p.Gly1037=) | |
1 | g.6467963C>A | CA338114354 | PLEKHG5 | c.2873G>T (p.Gly958Val) c.3047G>T (p.Gly1016Val) c.2984G>T (p.Gly995Val) n.3349G>T c.3080G>T (p.Gly1027Val) c.3170G>T (p.Gly1057Val) c.*3085G>T (n.*3085G>T) c.2250-70G>T (n.2250-70G>T) c.*2701G>T (n.*2701G>T) c.746G>T (p.Gly249Val) c.2738-65G>T (n.2738-65G>T) c.2481-70G>T (n.2481-70G>T) c.3104G>T (p.Gly1035Val) c.3041G>T (p.Gly1014Val) n.2075G>T c.3110G>T (p.Gly1037Val) | |
1 | g.6467963C>G | CA338114349 | PLEKHG5 | c.2873G>C (p.Gly958Ala) c.3047G>C (p.Gly1016Ala) c.2984G>C (p.Gly995Ala) n.3349G>C c.3080G>C (p.Gly1027Ala) c.3170G>C (p.Gly1057Ala) c.*3085G>C (n.*3085G>C) c.2250-70G>C (n.2250-70G>C) c.*2701G>C (n.*2701G>C) c.746G>C (p.Gly249Ala) c.2738-65G>C (n.2738-65G>C) c.2481-70G>C (n.2481-70G>C) c.3104G>C (p.Gly1035Ala) c.3041G>C (p.Gly1014Ala) n.2075G>C c.3110G>C (p.Gly1037Ala) | |
1 | g.6467963C>T | CA338114351 | PLEKHG5 | c.2873G>A (p.Gly958Glu) c.3047G>A (p.Gly1016Glu) c.2984G>A (p.Gly995Glu) n.3349G>A c.3080G>A (p.Gly1027Glu) c.3170G>A (p.Gly1057Glu) c.*3085G>A (n.*3085G>A) c.2250-70G>A (n.2250-70G>A) c.*2701G>A (n.*2701G>A) c.746G>A (p.Gly249Glu) c.2738-65G>A (n.2738-65G>A) c.2481-70G>A (n.2481-70G>A) c.3104G>A (p.Gly1035Glu) c.3041G>A (p.Gly1014Glu) n.2075G>A c.3110G>A (p.Gly1037Glu) | gnomAD v4 |
1 | g.6467964C>A | CA338114358 | PLEKHG5 | c.2872G>T (p.Gly958Ter) c.3046G>T (p.Gly1016Ter) c.2983G>T (p.Gly995Ter) n.3348G>T c.3079G>T (p.Gly1027Ter) c.3169G>T (p.Gly1057Ter) c.*3084G>T (n.*3084G>T) c.2250-71G>T (n.2250-71G>T) c.*2700G>T (n.*2700G>T) c.745G>T (p.Gly249Ter) c.2738-66G>T (n.2738-66G>T) c.2481-71G>T (n.2481-71G>T) c.3103G>T (p.Gly1035Ter) c.3040G>T (p.Gly1014Ter) n.2074G>T c.3109G>T (p.Gly1037Ter) | |
1 | g.6467964C>G | CA338114362 | PLEKHG5 | c.2872G>C (p.Gly958Arg) c.3046G>C (p.Gly1016Arg) c.2983G>C (p.Gly995Arg) n.3348G>C c.3079G>C (p.Gly1027Arg) c.3169G>C (p.Gly1057Arg) c.*3084G>C (n.*3084G>C) c.2250-71G>C (n.2250-71G>C) c.*2700G>C (n.*2700G>C) c.745G>C (p.Gly249Arg) c.2738-66G>C (n.2738-66G>C) c.2481-71G>C (n.2481-71G>C) c.3103G>C (p.Gly1035Arg) c.3040G>C (p.Gly1014Arg) n.2074G>C c.3109G>C (p.Gly1037Arg) | |
1 | g.6467964C>T | CA338114364 | PLEKHG5 | c.2872G>A (p.Gly958Arg) c.3046G>A (p.Gly1016Arg) c.2983G>A (p.Gly995Arg) n.3348G>A c.3079G>A (p.Gly1027Arg) c.3169G>A (p.Gly1057Arg) c.*3084G>A (n.*3084G>A) c.2250-71G>A (n.2250-71G>A) c.*2700G>A (n.*2700G>A) c.745G>A (p.Gly249Arg) c.2738-66G>A (n.2738-66G>A) c.2481-71G>A (n.2481-71G>A) c.3103G>A (p.Gly1035Arg) c.3040G>A (p.Gly1014Arg) n.2074G>A c.3109G>A (p.Gly1037Arg) | gnomAD v4 |
1 | g.6467965A>C | CA338114366 | PLEKHG5 | c.2871T>G (p.Cys957Trp) c.3045T>G (p.Cys1015Trp) c.2982T>G (p.Cys994Trp) n.3347T>G c.3078T>G (p.Cys1026Trp) c.3168T>G (p.Cys1056Trp) c.*3083T>G (n.*3083T>G) c.2250-72T>G (n.2250-72T>G) c.*2699T>G (n.*2699T>G) c.744T>G (p.Cys248Trp) c.2738-67T>G (n.2738-67T>G) c.2481-72T>G (n.2481-72T>G) c.3102T>G (p.Cys1034Trp) c.3039T>G (p.Cys1013Trp) n.2073T>G c.3108T>G (p.Cys1036Trp) | |
1 | g.6467965A>G | CA416022074 | PLEKHG5 | c.2871T>C (p.Cys957=) c.3045T>C (p.Cys1015=) c.2982T>C (p.Cys994=) n.3347T>C c.3078T>C (p.Cys1026=) c.3168T>C (p.Cys1056=) c.*3083T>C (n.*3083T>C) c.2250-72T>C (n.2250-72T>C) c.*2699T>C (n.*2699T>C) c.744T>C (p.Cys248=) c.2738-67T>C (n.2738-67T>C) c.2481-72T>C (n.2481-72T>C) c.3102T>C (p.Cys1034=) c.3039T>C (p.Cys1013=) n.2073T>C c.3108T>C (p.Cys1036=) | |
1 | g.6467965A>T | CA338114369 | PLEKHG5 | c.2871T>A (p.Cys957Ter) c.3045T>A (p.Cys1015Ter) c.2982T>A (p.Cys994Ter) n.3347T>A c.3078T>A (p.Cys1026Ter) c.3168T>A (p.Cys1056Ter) c.*3083T>A (n.*3083T>A) c.2250-72T>A (n.2250-72T>A) c.*2699T>A (n.*2699T>A) c.744T>A (p.Cys248Ter) c.2738-67T>A (n.2738-67T>A) c.2481-72T>A (n.2481-72T>A) c.3102T>A (p.Cys1034Ter) c.3039T>A (p.Cys1013Ter) n.2073T>A c.3108T>A (p.Cys1036Ter) | |
1 | g.6467966C>A | CA338114377 | PLEKHG5 | c.2870G>T (p.Cys957Phe) c.3044G>T (p.Cys1015Phe) c.2981G>T (p.Cys994Phe) n.3346G>T c.3077G>T (p.Cys1026Phe) c.3167G>T (p.Cys1056Phe) c.*3082G>T (n.*3082G>T) c.2250-73G>T (n.2250-73G>T) c.*2698G>T (n.*2698G>T) c.743G>T (p.Cys248Phe) c.2738-68G>T (n.2738-68G>T) c.2481-73G>T (n.2481-73G>T) c.3101G>T (p.Cys1034Phe) c.3038G>T (p.Cys1013Phe) n.2072G>T c.3107G>T (p.Cys1036Phe) | |
1 | g.6467966C>G | CA338114372 | PLEKHG5 | c.2870G>C (p.Cys957Ser) c.3044G>C (p.Cys1015Ser) c.2981G>C (p.Cys994Ser) n.3346G>C c.3077G>C (p.Cys1026Ser) c.3167G>C (p.Cys1056Ser) c.*3082G>C (n.*3082G>C) c.2250-73G>C (n.2250-73G>C) c.*2698G>C (n.*2698G>C) c.743G>C (p.Cys248Ser) c.2738-68G>C (n.2738-68G>C) c.2481-73G>C (n.2481-73G>C) c.3101G>C (p.Cys1034Ser) c.3038G>C (p.Cys1013Ser) n.2072G>C c.3107G>C (p.Cys1036Ser) | |
1 | g.6467966C>T | CA338114375 | PLEKHG5 | c.2870G>A (p.Cys957Tyr) c.3044G>A (p.Cys1015Tyr) c.2981G>A (p.Cys994Tyr) n.3346G>A c.3077G>A (p.Cys1026Tyr) c.3167G>A (p.Cys1056Tyr) c.*3082G>A (n.*3082G>A) c.2250-73G>A (n.2250-73G>A) c.*2698G>A (n.*2698G>A) c.743G>A (p.Cys248Tyr) c.2738-68G>A (n.2738-68G>A) c.2481-73G>A (n.2481-73G>A) c.3101G>A (p.Cys1034Tyr) c.3038G>A (p.Cys1013Tyr) n.2072G>A c.3107G>A (p.Cys1036Tyr) | gnomAD v4 |
1 | g.6467967A= | CA1151516650 | PLEKHG5 | c.2869T= (p.Cys957=) c.3043T= (p.Cys1015=) c.2980T= (p.Cys994=) n.3345T= c.3076T= (p.Cys1026=) c.3166T= (p.Cys1056=) c.*3081T= (n.*3081T=) c.2250-74T= (n.2250-74T=) c.*2697T= (n.*2697T=) c.742T= (p.Cys248=) c.2738-69T= (n.2738-69T=) c.2481-74T= (n.2481-74T=) c.3100T= (p.Cys1034=) c.3037T= (p.Cys1013=) n.2071T= c.3106T= (p.Cys1036=) | |
1 | g.6467967A>C | CA338114382 | PLEKHG5 | c.2869T>G (p.Cys957Gly) c.3043T>G (p.Cys1015Gly) c.2980T>G (p.Cys994Gly) n.3345T>G c.3076T>G (p.Cys1026Gly) c.3166T>G (p.Cys1056Gly) c.*3081T>G (n.*3081T>G) c.2250-74T>G (n.2250-74T>G) c.*2697T>G (n.*2697T>G) c.742T>G (p.Cys248Gly) c.2738-69T>G (n.2738-69T>G) c.2481-74T>G (n.2481-74T>G) c.3100T>G (p.Cys1034Gly) c.3037T>G (p.Cys1013Gly) n.2071T>G c.3106T>G (p.Cys1036Gly) | dbSNP |
1 | g.6467967A>G | CA338114384 | PLEKHG5 | c.2869T>C (p.Cys957Arg) c.3043T>C (p.Cys1015Arg) c.2980T>C (p.Cys994Arg) n.3345T>C c.3076T>C (p.Cys1026Arg) c.3166T>C (p.Cys1056Arg) c.*3081T>C (n.*3081T>C) c.2250-74T>C (n.2250-74T>C) c.*2697T>C (n.*2697T>C) c.742T>C (p.Cys248Arg) c.2738-69T>C (n.2738-69T>C) c.2481-74T>C (n.2481-74T>C) c.3100T>C (p.Cys1034Arg) c.3037T>C (p.Cys1013Arg) n.2071T>C c.3106T>C (p.Cys1036Arg) | gnomAD v4 |
1 | g.6467967A>T | CA338114385 | PLEKHG5 | c.2869T>A (p.Cys957Ser) c.3043T>A (p.Cys1015Ser) c.2980T>A (p.Cys994Ser) n.3345T>A c.3076T>A (p.Cys1026Ser) c.3166T>A (p.Cys1056Ser) c.*3081T>A (n.*3081T>A) c.2250-74T>A (n.2250-74T>A) c.*2697T>A (n.*2697T>A) c.742T>A (p.Cys248Ser) c.2738-69T>A (n.2738-69T>A) c.2481-74T>A (n.2481-74T>A) c.3100T>A (p.Cys1034Ser) c.3037T>A (p.Cys1013Ser) n.2071T>A c.3106T>A (p.Cys1036Ser) | |
1 | g.6467968C>A | CA338114388 | PLEKHG5 | c.2868G>T (p.Arg956Ser) c.3042G>T (p.Arg1014Ser) c.2979G>T (p.Arg993Ser) n.3344G>T c.3075G>T (p.Arg1025Ser) c.3165G>T (p.Arg1055Ser) c.*3080G>T (n.*3080G>T) c.2250-75G>T (n.2250-75G>T) c.*2696G>T (n.*2696G>T) c.741G>T (p.Arg247Ser) c.2738-70G>T (n.2738-70G>T) c.2481-75G>T (n.2481-75G>T) c.3099G>T (p.Arg1033Ser) c.3036G>T (p.Arg1012Ser) n.2070G>T c.3105G>T (p.Arg1035Ser) | |
1 | g.6467968C= | CA1151516655 | PLEKHG5 | c.2868G= (p.Arg956=) c.3042G= (p.Arg1014=) c.2979G= (p.Arg993=) n.3344G= c.3075G= (p.Arg1025=) c.3165G= (p.Arg1055=) c.*3080G= (n.*3080G=) c.2250-75G= (n.2250-75G=) c.*2696G= (n.*2696G=) c.741G= (p.Arg247=) c.2738-70G= (n.2738-70G=) c.2481-75G= (n.2481-75G=) c.3099G= (p.Arg1033=) c.3036G= (p.Arg1012=) n.2070G= c.3105G= (p.Arg1035=) | |
1 | g.6467968C>G | CA338114390 | PLEKHG5 | c.2868G>C (p.Arg956Ser) c.3042G>C (p.Arg1014Ser) c.2979G>C (p.Arg993Ser) n.3344G>C c.3075G>C (p.Arg1025Ser) c.3165G>C (p.Arg1055Ser) c.*3080G>C (n.*3080G>C) c.2250-75G>C (n.2250-75G>C) c.*2696G>C (n.*2696G>C) c.741G>C (p.Arg247Ser) c.2738-70G>C (n.2738-70G>C) c.2481-75G>C (n.2481-75G>C) c.3099G>C (p.Arg1033Ser) c.3036G>C (p.Arg1012Ser) n.2070G>C c.3105G>C (p.Arg1035Ser) | gnomAD v4 |
1 | g.6467968C>T | CA416022078 | PLEKHG5 | c.2868G>A (p.Arg956=) c.3042G>A (p.Arg1014=) c.2979G>A (p.Arg993=) n.3344G>A c.3075G>A (p.Arg1025=) c.3165G>A (p.Arg1055=) c.*3080G>A (n.*3080G>A) c.2250-75G>A (n.2250-75G>A) c.*2696G>A (n.*2696G>A) c.741G>A (p.Arg247=) c.2738-70G>A (n.2738-70G>A) c.2481-75G>A (n.2481-75G>A) c.3099G>A (p.Arg1033=) c.3036G>A (p.Arg1012=) n.2070G>A c.3105G>A (p.Arg1035=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.6467969C>A | CA338114394 | PLEKHG5 | c.2867G>T (p.Arg956Met) c.3041G>T (p.Arg1014Met) c.2978G>T (p.Arg993Met) n.3343G>T c.3074G>T (p.Arg1025Met) c.3164G>T (p.Arg1055Met) c.*3079G>T (n.*3079G>T) c.2250-76G>T (n.2250-76G>T) c.*2695G>T (n.*2695G>T) c.740G>T (p.Arg247Met) c.2738-71G>T (n.2738-71G>T) c.2481-76G>T (n.2481-76G>T) c.3098G>T (p.Arg1033Met) c.3035G>T (p.Arg1012Met) n.2069G>T c.3104G>T (p.Arg1035Met) | gnomAD v4 |
1 | g.6467969C= | CA1151516660 | PLEKHG5 | c.2867G= (p.Arg956=) c.3041G= (p.Arg1014=) c.2978G= (p.Arg993=) n.3343G= c.3074G= (p.Arg1025=) c.3164G= (p.Arg1055=) c.*3079G= (n.*3079G=) c.2250-76G= (n.2250-76G=) c.*2695G= (n.*2695G=) c.740G= (p.Arg247=) c.2738-71G= (n.2738-71G=) c.2481-76G= (n.2481-76G=) c.3098G= (p.Arg1033=) c.3035G= (p.Arg1012=) n.2069G= c.3104G= (p.Arg1035=) | |
1 | g.6467969C>G | CA338114397 | PLEKHG5 | c.2867G>C (p.Arg956Thr) c.3041G>C (p.Arg1014Thr) c.2978G>C (p.Arg993Thr) n.3343G>C c.3074G>C (p.Arg1025Thr) c.3164G>C (p.Arg1055Thr) c.*3079G>C (n.*3079G>C) c.2250-76G>C (n.2250-76G>C) c.*2695G>C (n.*2695G>C) c.740G>C (p.Arg247Thr) c.2738-71G>C (n.2738-71G>C) c.2481-76G>C (n.2481-76G>C) c.3098G>C (p.Arg1033Thr) c.3035G>C (p.Arg1012Thr) n.2069G>C c.3104G>C (p.Arg1035Thr) | |
1 | g.6467969C>T | CA241974 | PLEKHG5 | c.2867G>A (p.Arg956Lys) c.3041G>A (p.Arg1014Lys) c.2978G>A (p.Arg993Lys) n.3343G>A c.3074G>A (p.Arg1025Lys) c.3164G>A (p.Arg1055Lys) c.*3079G>A (n.*3079G>A) c.2250-76G>A (n.2250-76G>A) c.*2695G>A (n.*2695G>A) c.740G>A (p.Arg247Lys) c.2738-71G>A (n.2738-71G>A) c.2481-76G>A (n.2481-76G>A) c.3098G>A (p.Arg1033Lys) c.3035G>A (p.Arg1012Lys) n.2069G>A c.3104G>A (p.Arg1035Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.6467970T>A | CA338114402 | PLEKHG5 | c.2866A>T (p.Arg956Trp) c.3040A>T (p.Arg1014Trp) c.2977A>T (p.Arg993Trp) n.3342A>T c.3073A>T (p.Arg1025Trp) c.3163A>T (p.Arg1055Trp) c.*3078A>T (n.*3078A>T) c.2250-77A>T (n.2250-77A>T) c.*2694A>T (n.*2694A>T) c.739A>T (p.Arg247Trp) c.2738-72A>T (n.2738-72A>T) c.2481-77A>T (n.2481-77A>T) c.3097A>T (p.Arg1033Trp) c.3034A>T (p.Arg1012Trp) n.2068A>T c.3103A>T (p.Arg1035Trp) | |
1 | g.6467970T>C | CA338114404 | PLEKHG5 | c.2866A>G (p.Arg956Gly) c.3040A>G (p.Arg1014Gly) c.2977A>G (p.Arg993Gly) n.3342A>G c.3073A>G (p.Arg1025Gly) c.3163A>G (p.Arg1055Gly) c.*3078A>G (n.*3078A>G) c.2250-77A>G (n.2250-77A>G) c.*2694A>G (n.*2694A>G) c.739A>G (p.Arg247Gly) c.2738-72A>G (n.2738-72A>G) c.2481-77A>G (n.2481-77A>G) c.3097A>G (p.Arg1033Gly) c.3034A>G (p.Arg1012Gly) n.2068A>G c.3103A>G (p.Arg1035Gly) | dbSNP gnomAD v4 |
1 | g.6467970T>G | CA416022160 | PLEKHG5 | c.2866A>C (p.Arg956=) c.3040A>C (p.Arg1014=) c.2977A>C (p.Arg993=) n.3342A>C c.3073A>C (p.Arg1025=) c.3163A>C (p.Arg1055=) c.*3078A>C (n.*3078A>C) c.2250-77A>C (n.2250-77A>C) c.*2694A>C (n.*2694A>C) c.739A>C (p.Arg247=) c.2738-72A>C (n.2738-72A>C) c.2481-77A>C (n.2481-77A>C) c.3097A>C (p.Arg1033=) c.3034A>C (p.Arg1012=) n.2068A>C c.3103A>C (p.Arg1035=) | |
1 | g.6467970T= | CA1151516668 | PLEKHG5 | c.2866A= (p.Arg956=) c.3040A= (p.Arg1014=) c.2977A= (p.Arg993=) n.3342A= c.3073A= (p.Arg1025=) c.3163A= (p.Arg1055=) c.*3078A= (n.*3078A=) c.2250-77A= (n.2250-77A=) c.*2694A= (n.*2694A=) c.739A= (p.Arg247=) c.2738-72A= (n.2738-72A=) c.2481-77A= (n.2481-77A=) c.3097A= (p.Arg1033=) c.3034A= (p.Arg1012=) n.2068A= c.3103A= (p.Arg1035=) | |
1 | g.6467971C>A | CA338114406 | PLEKHG5 | c.2865G>T (p.Lys955Asn) c.3039G>T (p.Lys1013Asn) c.2976G>T (p.Lys992Asn) n.3341G>T c.3072G>T (p.Lys1024Asn) c.3162G>T (p.Lys1054Asn) c.*3077G>T (n.*3077G>T) c.2250-78G>T (n.2250-78G>T) c.*2693G>T (n.*2693G>T) c.738G>T (p.Lys246Asn) c.2738-73G>T (n.2738-73G>T) c.2481-78G>T (n.2481-78G>T) c.3096G>T (p.Lys1032Asn) c.3033G>T (p.Lys1011Asn) n.2067G>T c.3102G>T (p.Lys1034Asn) | |
1 | g.6467971C= | CA1151516677 | PLEKHG5 | c.2865G= (p.Lys955=) c.3039G= (p.Lys1013=) c.2976G= (p.Lys992=) n.3341G= c.3072G= (p.Lys1024=) c.3162G= (p.Lys1054=) c.*3077G= (n.*3077G=) c.2250-78G= (n.2250-78G=) c.*2693G= (n.*2693G=) c.738G= (p.Lys246=) c.2738-73G= (n.2738-73G=) c.2481-78G= (n.2481-78G=) c.3096G= (p.Lys1032=) c.3033G= (p.Lys1011=) n.2067G= c.3102G= (p.Lys1034=) | |
1 | g.6467971C>G | CA561076 | PLEKHG5 | c.2865G>C (p.Lys955Asn) c.3039G>C (p.Lys1013Asn) c.2976G>C (p.Lys992Asn) n.3341G>C c.3072G>C (p.Lys1024Asn) c.3162G>C (p.Lys1054Asn) c.*3077G>C (n.*3077G>C) c.2250-78G>C (n.2250-78G>C) c.*2693G>C (n.*2693G>C) c.738G>C (p.Lys246Asn) c.2738-73G>C (n.2738-73G>C) c.2481-78G>C (n.2481-78G>C) c.3096G>C (p.Lys1032Asn) c.3033G>C (p.Lys1011Asn) n.2067G>C c.3102G>C (p.Lys1034Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.6467971C>T | CA416022161 | PLEKHG5 | c.2865G>A (p.Lys955=) c.3039G>A (p.Lys1013=) c.2976G>A (p.Lys992=) n.3341G>A c.3072G>A (p.Lys1024=) c.3162G>A (p.Lys1054=) c.*3077G>A (n.*3077G>A) c.2250-78G>A (n.2250-78G>A) c.*2693G>A (n.*2693G>A) c.738G>A (p.Lys246=) c.2738-73G>A (n.2738-73G>A) c.2481-78G>A (n.2481-78G>A) c.3096G>A (p.Lys1032=) c.3033G>A (p.Lys1011=) n.2067G>A c.3102G>A (p.Lys1034=) | |
1 | g.6467972T>A | CA338114412 | PLEKHG5 | c.2864A>T (p.Lys955Met) c.3038A>T (p.Lys1013Met) c.2975A>T (p.Lys992Met) n.3340A>T c.3071A>T (p.Lys1024Met) c.3161A>T (p.Lys1054Met) c.*3076A>T (n.*3076A>T) c.2250-79A>T (n.2250-79A>T) c.*2692A>T (n.*2692A>T) c.737A>T (p.Lys246Met) c.2738-74A>T (n.2738-74A>T) c.2481-79A>T (n.2481-79A>T) c.3095A>T (p.Lys1032Met) c.3032A>T (p.Lys1011Met) n.2066A>T c.3101A>T (p.Lys1034Met) | gnomAD v4 |
1 | g.6467972T>C | CA561077 | PLEKHG5 | c.2864A>G (p.Lys955Arg) c.3038A>G (p.Lys1013Arg) c.2975A>G (p.Lys992Arg) n.3340A>G c.3071A>G (p.Lys1024Arg) c.3161A>G (p.Lys1054Arg) c.*3076A>G (n.*3076A>G) c.2250-79A>G (n.2250-79A>G) c.*2692A>G (n.*2692A>G) c.737A>G (p.Lys246Arg) c.2738-74A>G (n.2738-74A>G) c.2481-79A>G (n.2481-79A>G) c.3095A>G (p.Lys1032Arg) c.3032A>G (p.Lys1011Arg) n.2066A>G c.3101A>G (p.Lys1034Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.6467972T>G | CA338114409 | PLEKHG5 | c.2864A>C (p.Lys955Thr) c.3038A>C (p.Lys1013Thr) c.2975A>C (p.Lys992Thr) n.3340A>C c.3071A>C (p.Lys1024Thr) c.3161A>C (p.Lys1054Thr) c.*3076A>C (n.*3076A>C) c.2250-79A>C (n.2250-79A>C) c.*2692A>C (n.*2692A>C) c.737A>C (p.Lys246Thr) c.2738-74A>C (n.2738-74A>C) c.2481-79A>C (n.2481-79A>C) c.3095A>C (p.Lys1032Thr) c.3032A>C (p.Lys1011Thr) n.2066A>C c.3101A>C (p.Lys1034Thr) | |
1 | g.6467972T= | CA1151516690 | PLEKHG5 | c.2864A= (p.Lys955=) c.3038A= (p.Lys1013=) c.2975A= (p.Lys992=) n.3340A= c.3071A= (p.Lys1024=) c.3161A= (p.Lys1054=) c.*3076A= (n.*3076A=) c.2250-79A= (n.2250-79A=) c.*2692A= (n.*2692A=) c.737A= (p.Lys246=) c.2738-74A= (n.2738-74A=) c.2481-79A= (n.2481-79A=) c.3095A= (p.Lys1032=) c.3032A= (p.Lys1011=) n.2066A= c.3101A= (p.Lys1034=) | |
1 | g.6467973T>A | CA338114416 | PLEKHG5 | c.2863A>T (p.Lys955Ter) c.3037A>T (p.Lys1013Ter) c.2974A>T (p.Lys992Ter) n.3339A>T c.3070A>T (p.Lys1024Ter) c.3160A>T (p.Lys1054Ter) c.*3075A>T (n.*3075A>T) c.2250-80A>T (n.2250-80A>T) c.*2691A>T (n.*2691A>T) c.736A>T (p.Lys246Ter) c.2738-75A>T (n.2738-75A>T) c.2481-80A>T (n.2481-80A>T) c.3094A>T (p.Lys1032Ter) c.3031A>T (p.Lys1011Ter) n.2065A>T c.3100A>T (p.Lys1034Ter) | |
1 | g.6467973T>C | CA338114418 | PLEKHG5 | c.2863A>G (p.Lys955Glu) c.3037A>G (p.Lys1013Glu) c.2974A>G (p.Lys992Glu) n.3339A>G c.3070A>G (p.Lys1024Glu) c.3160A>G (p.Lys1054Glu) c.*3075A>G (n.*3075A>G) c.2250-80A>G (n.2250-80A>G) c.*2691A>G (n.*2691A>G) c.736A>G (p.Lys246Glu) c.2738-75A>G (n.2738-75A>G) c.2481-80A>G (n.2481-80A>G) c.3094A>G (p.Lys1032Glu) c.3031A>G (p.Lys1011Glu) n.2065A>G c.3100A>G (p.Lys1034Glu) | |
1 | g.6467973T>G | CA338114421 | PLEKHG5 | c.2863A>C (p.Lys955Gln) c.3037A>C (p.Lys1013Gln) c.2974A>C (p.Lys992Gln) n.3339A>C c.3070A>C (p.Lys1024Gln) c.3160A>C (p.Lys1054Gln) c.*3075A>C (n.*3075A>C) c.2250-80A>C (n.2250-80A>C) c.*2691A>C (n.*2691A>C) c.736A>C (p.Lys246Gln) c.2738-75A>C (n.2738-75A>C) c.2481-80A>C (n.2481-80A>C) c.3094A>C (p.Lys1032Gln) c.3031A>C (p.Lys1011Gln) n.2065A>C c.3100A>C (p.Lys1034Gln) | |
1 | g.6467974C>A | CA338114425 | PLEKHG5 | c.2862G>T (p.Arg954Ser) c.3036G>T (p.Arg1012Ser) c.2973G>T (p.Arg991Ser) n.3338G>T c.3069G>T (p.Arg1023Ser) c.3159G>T (p.Arg1053Ser) c.*3074G>T (n.*3074G>T) c.2250-81G>T (n.2250-81G>T) c.*2690G>T (n.*2690G>T) c.735G>T (p.Arg245Ser) c.2738-76G>T (n.2738-76G>T) c.2481-81G>T (n.2481-81G>T) c.3093G>T (p.Arg1031Ser) c.3030G>T (p.Arg1010Ser) n.2064G>T c.3099G>T (p.Arg1033Ser) | gnomAD v4 |
1 | g.6467974C>G | CA338114436 | PLEKHG5 | c.2862G>C (p.Arg954Ser) c.3036G>C (p.Arg1012Ser) c.2973G>C (p.Arg991Ser) n.3338G>C c.3069G>C (p.Arg1023Ser) c.3159G>C (p.Arg1053Ser) c.*3074G>C (n.*3074G>C) c.2250-81G>C (n.2250-81G>C) c.*2690G>C (n.*2690G>C) c.735G>C (p.Arg245Ser) c.2738-76G>C (n.2738-76G>C) c.2481-81G>C (n.2481-81G>C) c.3093G>C (p.Arg1031Ser) c.3030G>C (p.Arg1010Ser) n.2064G>C c.3099G>C (p.Arg1033Ser) | |
1 | g.6467974C>T | CA416022167 | PLEKHG5 | c.2862G>A (p.Arg954=) c.3036G>A (p.Arg1012=) c.2973G>A (p.Arg991=) n.3338G>A c.3069G>A (p.Arg1023=) c.3159G>A (p.Arg1053=) c.*3074G>A (n.*3074G>A) c.2250-81G>A (n.2250-81G>A) c.*2690G>A (n.*2690G>A) c.735G>A (p.Arg245=) c.2738-76G>A (n.2738-76G>A) c.2481-81G>A (n.2481-81G>A) c.3093G>A (p.Arg1031=) c.3030G>A (p.Arg1010=) n.2064G>A c.3099G>A (p.Arg1033=) | |
1 | g.6467975C>A | CA338114441 | PLEKHG5 | c.2861G>T (p.Arg954Met) c.3035G>T (p.Arg1012Met) c.2972G>T (p.Arg991Met) n.3337G>T c.3068G>T (p.Arg1023Met) c.3158G>T (p.Arg1053Met) c.*3073G>T (n.*3073G>T) c.2250-82G>T (n.2250-82G>T) c.*2689G>T (n.*2689G>T) c.734G>T (p.Arg245Met) c.2738-77G>T (n.2738-77G>T) c.2481-82G>T (n.2481-82G>T) c.3092G>T (p.Arg1031Met) c.3029G>T (p.Arg1010Met) n.2063G>T c.3098G>T (p.Arg1033Met) | gnomAD v4 |
1 | g.6467975C>G | CA338114444 | PLEKHG5 | c.2861G>C (p.Arg954Thr) c.3035G>C (p.Arg1012Thr) c.2972G>C (p.Arg991Thr) n.3337G>C c.3068G>C (p.Arg1023Thr) c.3158G>C (p.Arg1053Thr) c.*3073G>C (n.*3073G>C) c.2250-82G>C (n.2250-82G>C) c.*2689G>C (n.*2689G>C) c.734G>C (p.Arg245Thr) c.2738-77G>C (n.2738-77G>C) c.2481-82G>C (n.2481-82G>C) c.3092G>C (p.Arg1031Thr) c.3029G>C (p.Arg1010Thr) n.2063G>C c.3098G>C (p.Arg1033Thr) | |
1 | g.6467975C>T | CA338114447 | PLEKHG5 | c.2861G>A (p.Arg954Lys) c.3035G>A (p.Arg1012Lys) c.2972G>A (p.Arg991Lys) n.3337G>A c.3068G>A (p.Arg1023Lys) c.3158G>A (p.Arg1053Lys) c.*3073G>A (n.*3073G>A) c.2250-82G>A (n.2250-82G>A) c.*2689G>A (n.*2689G>A) c.734G>A (p.Arg245Lys) c.2738-77G>A (n.2738-77G>A) c.2481-82G>A (n.2481-82G>A) c.3092G>A (p.Arg1031Lys) c.3029G>A (p.Arg1010Lys) n.2063G>A c.3098G>A (p.Arg1033Lys) | gnomAD v4 |
1 | g.6467976T>A | CA338114452 | PLEKHG5 | c.2860A>T (p.Arg954Trp) c.3034A>T (p.Arg1012Trp) c.2971A>T (p.Arg991Trp) n.3336A>T c.3067A>T (p.Arg1023Trp) c.3157A>T (p.Arg1053Trp) c.*3072A>T (n.*3072A>T) c.2250-83A>T (n.2250-83A>T) c.*2688A>T (n.*2688A>T) c.733A>T (p.Arg245Trp) c.2738-78A>T (n.2738-78A>T) c.2481-83A>T (n.2481-83A>T) c.3091A>T (p.Arg1031Trp) c.3028A>T (p.Arg1010Trp) n.2062A>T c.3097A>T (p.Arg1033Trp) | |
1 | g.6467976T>C | CA338114454 | PLEKHG5 | c.2860A>G (p.Arg954Gly) c.3034A>G (p.Arg1012Gly) c.2971A>G (p.Arg991Gly) n.3336A>G c.3067A>G (p.Arg1023Gly) c.3157A>G (p.Arg1053Gly) c.*3072A>G (n.*3072A>G) c.2250-83A>G (n.2250-83A>G) c.*2688A>G (n.*2688A>G) c.733A>G (p.Arg245Gly) c.2738-78A>G (n.2738-78A>G) c.2481-83A>G (n.2481-83A>G) c.3091A>G (p.Arg1031Gly) c.3028A>G (p.Arg1010Gly) n.2062A>G c.3097A>G (p.Arg1033Gly) | gnomAD v4 |
1 | g.6467976T>G | CA416022172 | PLEKHG5 | c.2860A>C (p.Arg954=) c.3034A>C (p.Arg1012=) c.2971A>C (p.Arg991=) n.3336A>C c.3067A>C (p.Arg1023=) c.3157A>C (p.Arg1053=) c.*3072A>C (n.*3072A>C) c.2250-83A>C (n.2250-83A>C) c.*2688A>C (n.*2688A>C) c.733A>C (p.Arg245=) c.2738-78A>C (n.2738-78A>C) c.2481-83A>C (n.2481-83A>C) c.3091A>C (p.Arg1031=) c.3028A>C (p.Arg1010=) n.2062A>C c.3097A>C (p.Arg1033=) | |
1 | g.6467977G>A | CA561078 | PLEKHG5 | c.2859C>T (p.His953=) c.3033C>T (p.His1011=) c.2970C>T (p.His990=) n.3335C>T c.3066C>T (p.His1022=) c.3156C>T (p.His1052=) c.*3071C>T (n.*3071C>T) c.2250-84C>T (n.2250-84C>T) c.*2687C>T (n.*2687C>T) c.732C>T (p.His244=) c.2738-79C>T (n.2738-79C>T) c.2481-84C>T (n.2481-84C>T) c.3090C>T (p.His1030=) c.3027C>T (p.His1009=) n.2061C>T c.3096C>T (p.His1032=) | dbSNP ExAC gnomAD v2 |
1 | g.6467977G>C | CA338114458 | PLEKHG5 | c.2859C>G (p.His953Gln) c.3033C>G (p.His1011Gln) c.2970C>G (p.His990Gln) n.3335C>G c.3066C>G (p.His1022Gln) c.3156C>G (p.His1052Gln) c.*3071C>G (n.*3071C>G) c.2250-84C>G (n.2250-84C>G) c.*2687C>G (n.*2687C>G) c.732C>G (p.His244Gln) c.2738-79C>G (n.2738-79C>G) c.2481-84C>G (n.2481-84C>G) c.3090C>G (p.His1030Gln) c.3027C>G (p.His1009Gln) n.2061C>G c.3096C>G (p.His1032Gln) | |
1 | g.6467977G= | CA1151516695 | PLEKHG5 | c.2859C= (p.His953=) c.3033C= (p.His1011=) c.2970C= (p.His990=) n.3335C= c.3066C= (p.His1022=) c.3156C= (p.His1052=) c.*3071C= (n.*3071C=) c.2250-84C= (n.2250-84C=) c.*2687C= (n.*2687C=) c.732C= (p.His244=) c.2738-79C= (n.2738-79C=) c.2481-84C= (n.2481-84C=) c.3090C= (p.His1030=) c.3027C= (p.His1009=) n.2061C= c.3096C= (p.His1032=) | |
1 | g.6467977G>T | CA338114461 | PLEKHG5 | c.2859C>A (p.His953Gln) c.3033C>A (p.His1011Gln) c.2970C>A (p.His990Gln) n.3335C>A c.3066C>A (p.His1022Gln) c.3156C>A (p.His1052Gln) c.*3071C>A (n.*3071C>A) c.2250-84C>A (n.2250-84C>A) c.*2687C>A (n.*2687C>A) c.732C>A (p.His244Gln) c.2738-79C>A (n.2738-79C>A) c.2481-84C>A (n.2481-84C>A) c.3090C>A (p.His1030Gln) c.3027C>A (p.His1009Gln) n.2061C>A c.3096C>A (p.His1032Gln) | gnomAD v4 |
1 | g.6467978T>A | CA338114468 | PLEKHG5 | c.2858A>T (p.His953Leu) c.3032A>T (p.His1011Leu) c.2969A>T (p.His990Leu) n.3334A>T c.3065A>T (p.His1022Leu) c.3155A>T (p.His1052Leu) c.*3070A>T (n.*3070A>T) c.2250-85A>T (n.2250-85A>T) c.*2686A>T (n.*2686A>T) c.731A>T (p.His244Leu) c.2738-80A>T (n.2738-80A>T) c.2481-85A>T (n.2481-85A>T) c.3089A>T (p.His1030Leu) c.3026A>T (p.His1009Leu) n.2060A>T c.3095A>T (p.His1032Leu) | |
1 | g.6467978T>C | CA338114470 | PLEKHG5 | c.2858A>G (p.His953Arg) c.3032A>G (p.His1011Arg) c.2969A>G (p.His990Arg) n.3334A>G c.3065A>G (p.His1022Arg) c.3155A>G (p.His1052Arg) c.*3070A>G (n.*3070A>G) c.2250-85A>G (n.2250-85A>G) c.*2686A>G (n.*2686A>G) c.731A>G (p.His244Arg) c.2738-80A>G (n.2738-80A>G) c.2481-85A>G (n.2481-85A>G) c.3089A>G (p.His1030Arg) c.3026A>G (p.His1009Arg) n.2060A>G c.3095A>G (p.His1032Arg) | |
1 | g.6467978T>G | CA338114465 | PLEKHG5 | c.2858A>C (p.His953Pro) c.3032A>C (p.His1011Pro) c.2969A>C (p.His990Pro) n.3334A>C c.3065A>C (p.His1022Pro) c.3155A>C (p.His1052Pro) c.*3070A>C (n.*3070A>C) c.2250-85A>C (n.2250-85A>C) c.*2686A>C (n.*2686A>C) c.731A>C (p.His244Pro) c.2738-80A>C (n.2738-80A>C) c.2481-85A>C (n.2481-85A>C) c.3089A>C (p.His1030Pro) c.3026A>C (p.His1009Pro) n.2060A>C c.3095A>C (p.His1032Pro) | |
1 | g.6467979G>A | CA338114474 | PLEKHG5 | c.2857C>T (p.His953Tyr) c.3031C>T (p.His1011Tyr) c.2968C>T (p.His990Tyr) n.3333C>T c.3064C>T (p.His1022Tyr) c.3154C>T (p.His1052Tyr) c.*3069C>T (n.*3069C>T) c.2250-86C>T (n.2250-86C>T) c.*2685C>T (n.*2685C>T) c.730C>T (p.His244Tyr) c.2738-81C>T (n.2738-81C>T) c.2481-86C>T (n.2481-86C>T) c.3088C>T (p.His1030Tyr) c.3025C>T (p.His1009Tyr) n.2059C>T c.3094C>T (p.His1032Tyr) | gnomAD v4 |
1 | g.6467979G>C | CA338114480 | PLEKHG5 | c.2857C>G (p.His953Asp) c.3031C>G (p.His1011Asp) c.2968C>G (p.His990Asp) n.3333C>G c.3064C>G (p.His1022Asp) c.3154C>G (p.His1052Asp) c.*3069C>G (n.*3069C>G) c.2250-86C>G (n.2250-86C>G) c.*2685C>G (n.*2685C>G) c.730C>G (p.His244Asp) c.2738-81C>G (n.2738-81C>G) c.2481-86C>G (n.2481-86C>G) c.3088C>G (p.His1030Asp) c.3025C>G (p.His1009Asp) n.2059C>G c.3094C>G (p.His1032Asp) | |
1 | g.6467979G>T | CA338114477 | PLEKHG5 | c.2857C>A (p.His953Asn) c.3031C>A (p.His1011Asn) c.2968C>A (p.His990Asn) n.3333C>A c.3064C>A (p.His1022Asn) c.3154C>A (p.His1052Asn) c.*3069C>A (n.*3069C>A) c.2250-86C>A (n.2250-86C>A) c.*2685C>A (n.*2685C>A) c.730C>A (p.His244Asn) c.2738-81C>A (n.2738-81C>A) c.2481-86C>A (n.2481-86C>A) c.3088C>A (p.His1030Asn) c.3025C>A (p.His1009Asn) n.2059C>A c.3094C>A (p.His1032Asn) | gnomAD v4 |
1 | g.6467980G>A | CA561079 | PLEKHG5 | c.2856C>T (p.Ser952=) c.3030C>T (p.Ser1010=) c.2967C>T (p.Ser989=) n.3332C>T c.3063C>T (p.Ser1021=) c.3153C>T (p.Ser1051=) c.*3068C>T (n.*3068C>T) c.2250-87C>T (n.2250-87C>T) c.*2684C>T (n.*2684C>T) c.729C>T (p.Ser243=) c.2738-82C>T (n.2738-82C>T) c.2481-87C>T (n.2481-87C>T) c.3087C>T (p.Ser1029=) c.3024C>T (p.Ser1008=) n.2058C>T c.3093C>T (p.Ser1031=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.6467980G>C | CA416022177 | PLEKHG5 | c.2856C>G (p.Ser952=) c.3030C>G (p.Ser1010=) c.2967C>G (p.Ser989=) n.3332C>G c.3063C>G (p.Ser1021=) c.3153C>G (p.Ser1051=) c.*3068C>G (n.*3068C>G) c.2250-87C>G (n.2250-87C>G) c.*2684C>G (n.*2684C>G) c.729C>G (p.Ser243=) c.2738-82C>G (n.2738-82C>G) c.2481-87C>G (n.2481-87C>G) c.3087C>G (p.Ser1029=) c.3024C>G (p.Ser1008=) n.2058C>G c.3093C>G (p.Ser1031=) | dbSNP |
1 | g.6467980G= | CA1151516706 | PLEKHG5 | c.2856C= (p.Ser952=) c.3030C= (p.Ser1010=) c.2967C= (p.Ser989=) n.3332C= c.3063C= (p.Ser1021=) c.3153C= (p.Ser1051=) c.*3068C= (n.*3068C=) c.2250-87C= (n.2250-87C=) c.*2684C= (n.*2684C=) c.729C= (p.Ser243=) c.2738-82C= (n.2738-82C=) c.2481-87C= (n.2481-87C=) c.3087C= (p.Ser1029=) c.3024C= (p.Ser1008=) n.2058C= c.3093C= (p.Ser1031=) | |
1 | g.6467980G>T | CA416022176 | PLEKHG5 | c.2856C>A (p.Ser952=) c.3030C>A (p.Ser1010=) c.2967C>A (p.Ser989=) n.3332C>A c.3063C>A (p.Ser1021=) c.3153C>A (p.Ser1051=) c.*3068C>A (n.*3068C>A) c.2250-87C>A (n.2250-87C>A) c.*2684C>A (n.*2684C>A) c.729C>A (p.Ser243=) c.2738-82C>A (n.2738-82C>A) c.2481-87C>A (n.2481-87C>A) c.3087C>A (p.Ser1029=) c.3024C>A (p.Ser1008=) n.2058C>A c.3093C>A (p.Ser1031=) | gnomAD v4 |
1 | g.6467981G>A | CA338114484 | PLEKHG5 | c.2855C>T (p.Ser952Phe) c.3029C>T (p.Ser1010Phe) c.2966C>T (p.Ser989Phe) n.3331C>T c.3062C>T (p.Ser1021Phe) c.3152C>T (p.Ser1051Phe) c.*3067C>T (n.*3067C>T) c.2250-88C>T (n.2250-88C>T) c.*2683C>T (n.*2683C>T) c.728C>T (p.Ser243Phe) c.2738-83C>T (n.2738-83C>T) c.2481-88C>T (n.2481-88C>T) c.3086C>T (p.Ser1029Phe) c.3023C>T (p.Ser1008Phe) n.2057C>T c.3092C>T (p.Ser1031Phe) | |
1 | g.6467981G>C | CA338114485 | PLEKHG5 | c.2855C>G (p.Ser952Cys) c.3029C>G (p.Ser1010Cys) c.2966C>G (p.Ser989Cys) n.3331C>G c.3062C>G (p.Ser1021Cys) c.3152C>G (p.Ser1051Cys) c.*3067C>G (n.*3067C>G) c.2250-88C>G (n.2250-88C>G) c.*2683C>G (n.*2683C>G) c.728C>G (p.Ser243Cys) c.2738-83C>G (n.2738-83C>G) c.2481-88C>G (n.2481-88C>G) c.3086C>G (p.Ser1029Cys) c.3023C>G (p.Ser1008Cys) n.2057C>G c.3092C>G (p.Ser1031Cys) | |
1 | g.6467981G>T | CA338114486 | PLEKHG5 | c.2855C>A (p.Ser952Tyr) c.3029C>A (p.Ser1010Tyr) c.2966C>A (p.Ser989Tyr) n.3331C>A c.3062C>A (p.Ser1021Tyr) c.3152C>A (p.Ser1051Tyr) c.*3067C>A (n.*3067C>A) c.2250-88C>A (n.2250-88C>A) c.*2683C>A (n.*2683C>A) c.728C>A (p.Ser243Tyr) c.2738-83C>A (n.2738-83C>A) c.2481-88C>A (n.2481-88C>A) c.3086C>A (p.Ser1029Tyr) c.3023C>A (p.Ser1008Tyr) n.2057C>A c.3092C>A (p.Ser1031Tyr) | gnomAD v4 |
1 | g.6467982A>C | CA338114487 | PLEKHG5 | c.2854T>G (p.Ser952Ala) c.3028T>G (p.Ser1010Ala) c.2965T>G (p.Ser989Ala) n.3330T>G c.3061T>G (p.Ser1021Ala) c.3151T>G (p.Ser1051Ala) c.*3066T>G (n.*3066T>G) c.2250-89T>G (n.2250-89T>G) c.*2682T>G (n.*2682T>G) c.727T>G (p.Ser243Ala) c.2738-84T>G (n.2738-84T>G) c.2481-89T>G (n.2481-89T>G) c.3085T>G (p.Ser1029Ala) c.3022T>G (p.Ser1008Ala) n.2056T>G c.3091T>G (p.Ser1031Ala) | |
1 | g.6467982A>G | CA338114488 | PLEKHG5 | c.2854T>C (p.Ser952Pro) c.3028T>C (p.Ser1010Pro) c.2965T>C (p.Ser989Pro) n.3330T>C c.3061T>C (p.Ser1021Pro) c.3151T>C (p.Ser1051Pro) c.*3066T>C (n.*3066T>C) c.2250-89T>C (n.2250-89T>C) c.*2682T>C (n.*2682T>C) c.727T>C (p.Ser243Pro) c.2738-84T>C (n.2738-84T>C) c.2481-89T>C (n.2481-89T>C) c.3085T>C (p.Ser1029Pro) c.3022T>C (p.Ser1008Pro) n.2056T>C c.3091T>C (p.Ser1031Pro) | |
1 | g.6467982A>T | CA338114490 | PLEKHG5 | c.2854T>A (p.Ser952Thr) c.3028T>A (p.Ser1010Thr) c.2965T>A (p.Ser989Thr) n.3330T>A c.3061T>A (p.Ser1021Thr) c.3151T>A (p.Ser1051Thr) c.*3066T>A (n.*3066T>A) c.2250-89T>A (n.2250-89T>A) c.*2682T>A (n.*2682T>A) c.727T>A (p.Ser243Thr) c.2738-84T>A (n.2738-84T>A) c.2481-89T>A (n.2481-89T>A) c.3085T>A (p.Ser1029Thr) c.3022T>A (p.Ser1008Thr) n.2056T>A c.3091T>A (p.Ser1031Thr) | |
1 | g.6467983G>A | CA416022180 | PLEKHG5 | c.2853C>T (p.Gly951=) c.3027C>T (p.Gly1009=) c.2964C>T (p.Gly988=) n.3329C>T c.3060C>T (p.Gly1020=) c.3150C>T (p.Gly1050=) c.*3065C>T (n.*3065C>T) c.2250-90C>T (n.2250-90C>T) c.*2681C>T (n.*2681C>T) c.726C>T (p.Gly242=) c.2738-85C>T (n.2738-85C>T) c.2481-90C>T (n.2481-90C>T) c.3084C>T (p.Gly1028=) c.3021C>T (p.Gly1007=) n.2055C>T c.3090C>T (p.Gly1030=) | |
1 | g.6467983G>C | CA416022181 | PLEKHG5 | c.2853C>G (p.Gly951=) c.3027C>G (p.Gly1009=) c.2964C>G (p.Gly988=) n.3329C>G c.3060C>G (p.Gly1020=) c.3150C>G (p.Gly1050=) c.*3065C>G (n.*3065C>G) c.2250-90C>G (n.2250-90C>G) c.*2681C>G (n.*2681C>G) c.726C>G (p.Gly242=) c.2738-85C>G (n.2738-85C>G) c.2481-90C>G (n.2481-90C>G) c.3084C>G (p.Gly1028=) c.3021C>G (p.Gly1007=) n.2055C>G c.3090C>G (p.Gly1030=) | |
1 | g.6467983G>T | CA416022182 | PLEKHG5 | c.2853C>A (p.Gly951=) c.3027C>A (p.Gly1009=) c.2964C>A (p.Gly988=) n.3329C>A c.3060C>A (p.Gly1020=) c.3150C>A (p.Gly1050=) c.*3065C>A (n.*3065C>A) c.2250-90C>A (n.2250-90C>A) c.*2681C>A (n.*2681C>A) c.726C>A (p.Gly242=) c.2738-85C>A (n.2738-85C>A) c.2481-90C>A (n.2481-90C>A) c.3084C>A (p.Gly1028=) c.3021C>A (p.Gly1007=) n.2055C>A c.3090C>A (p.Gly1030=) | gnomAD v4 |
1 | g.6467984C>A | CA338114494 | PLEKHG5 | c.2852G>T (p.Gly951Val) c.3026G>T (p.Gly1009Val) c.2963G>T (p.Gly988Val) n.3328G>T c.3059G>T (p.Gly1020Val) c.3149G>T (p.Gly1050Val) c.*3064G>T (n.*3064G>T) c.2250-91G>T (n.2250-91G>T) c.*2680G>T (n.*2680G>T) c.725G>T (p.Gly242Val) c.2738-86G>T (n.2738-86G>T) c.2481-91G>T (n.2481-91G>T) c.3083G>T (p.Gly1028Val) c.3020G>T (p.Gly1007Val) n.2054G>T c.3089G>T (p.Gly1030Val) | gnomAD v4 COSMIC COSMIC COSMIC |
1 | g.6467984C>G | CA338114496 | PLEKHG5 | c.2852G>C (p.Gly951Ala) c.3026G>C (p.Gly1009Ala) c.2963G>C (p.Gly988Ala) n.3328G>C c.3059G>C (p.Gly1020Ala) c.3149G>C (p.Gly1050Ala) c.*3064G>C (n.*3064G>C) c.2250-91G>C (n.2250-91G>C) c.*2680G>C (n.*2680G>C) c.725G>C (p.Gly242Ala) c.2738-86G>C (n.2738-86G>C) c.2481-91G>C (n.2481-91G>C) c.3083G>C (p.Gly1028Ala) c.3020G>C (p.Gly1007Ala) n.2054G>C c.3089G>C (p.Gly1030Ala) | |
1 | g.6467984C>T | CA338114498 | PLEKHG5 | c.2852G>A (p.Gly951Asp) c.3026G>A (p.Gly1009Asp) c.2963G>A (p.Gly988Asp) n.3328G>A c.3059G>A (p.Gly1020Asp) c.3149G>A (p.Gly1050Asp) c.*3064G>A (n.*3064G>A) c.2250-91G>A (n.2250-91G>A) c.*2680G>A (n.*2680G>A) c.725G>A (p.Gly242Asp) c.2738-86G>A (n.2738-86G>A) c.2481-91G>A (n.2481-91G>A) c.3083G>A (p.Gly1028Asp) c.3020G>A (p.Gly1007Asp) n.2054G>A c.3089G>A (p.Gly1030Asp) | gnomAD v4 |
1 | g.6467985C>A | CA338114505 | PLEKHG5 | c.2851G>T (p.Gly951Cys) c.3025G>T (p.Gly1009Cys) c.2962G>T (p.Gly988Cys) n.3327G>T c.3058G>T (p.Gly1020Cys) c.3148G>T (p.Gly1050Cys) c.*3063G>T (n.*3063G>T) c.2250-92G>T (n.2250-92G>T) c.*2679G>T (n.*2679G>T) c.724G>T (p.Gly242Cys) c.2738-87G>T (n.2738-87G>T) c.2481-92G>T (n.2481-92G>T) c.3082G>T (p.Gly1028Cys) c.3019G>T (p.Gly1007Cys) n.2053G>T c.3088G>T (p.Gly1030Cys) | |
1 | g.6467985C>G | CA338114504 | PLEKHG5 | c.2851G>C (p.Gly951Arg) c.3025G>C (p.Gly1009Arg) c.2962G>C (p.Gly988Arg) n.3327G>C c.3058G>C (p.Gly1020Arg) c.3148G>C (p.Gly1050Arg) c.*3063G>C (n.*3063G>C) c.2250-92G>C (n.2250-92G>C) c.*2679G>C (n.*2679G>C) c.724G>C (p.Gly242Arg) c.2738-87G>C (n.2738-87G>C) c.2481-92G>C (n.2481-92G>C) c.3082G>C (p.Gly1028Arg) c.3019G>C (p.Gly1007Arg) n.2053G>C c.3088G>C (p.Gly1030Arg) | |
1 | g.6467985C>T | CA338114502 | PLEKHG5 | c.2851G>A (p.Gly951Ser) c.3025G>A (p.Gly1009Ser) c.2962G>A (p.Gly988Ser) n.3327G>A c.3058G>A (p.Gly1020Ser) c.3148G>A (p.Gly1050Ser) c.*3063G>A (n.*3063G>A) c.2250-92G>A (n.2250-92G>A) c.*2679G>A (n.*2679G>A) c.724G>A (p.Gly242Ser) c.2738-87G>A (n.2738-87G>A) c.2481-92G>A (n.2481-92G>A) c.3082G>A (p.Gly1028Ser) c.3019G>A (p.Gly1007Ser) n.2053G>A c.3088G>A (p.Gly1030Ser) | |
1 | g.6467986T>A | CA416022187 | PLEKHG5 | c.2850A>T (p.Ala950=) c.3024A>T (p.Ala1008=) c.2961A>T (p.Ala987=) n.3326A>T c.3057A>T (p.Ala1019=) c.3147A>T (p.Ala1049=) c.*3062A>T (n.*3062A>T) c.2250-93A>T (n.2250-93A>T) c.*2678A>T (n.*2678A>T) c.723A>T (p.Ala241=) c.2738-88A>T (n.2738-88A>T) c.2481-93A>T (n.2481-93A>T) c.3081A>T (p.Ala1027=) c.3018A>T (p.Ala1006=) n.2052A>T c.3087A>T (p.Ala1029=) | |
1 | g.6467986T>C | CA416022188 | PLEKHG5 | c.2850A>G (p.Ala950=) c.3024A>G (p.Ala1008=) c.2961A>G (p.Ala987=) n.3326A>G c.3057A>G (p.Ala1019=) c.3147A>G (p.Ala1049=) c.*3062A>G (n.*3062A>G) c.2250-93A>G (n.2250-93A>G) c.*2678A>G (n.*2678A>G) c.723A>G (p.Ala241=) c.2738-88A>G (n.2738-88A>G) c.2481-93A>G (n.2481-93A>G) c.3081A>G (p.Ala1027=) c.3018A>G (p.Ala1006=) n.2052A>G c.3087A>G (p.Ala1029=) | dbSNP |
1 | g.6467986T>G | CA416022189 | PLEKHG5 | c.2850A>C (p.Ala950=) c.3024A>C (p.Ala1008=) c.2961A>C (p.Ala987=) n.3326A>C c.3057A>C (p.Ala1019=) c.3147A>C (p.Ala1049=) c.*3062A>C (n.*3062A>C) c.2250-93A>C (n.2250-93A>C) c.*2678A>C (n.*2678A>C) c.723A>C (p.Ala241=) c.2738-88A>C (n.2738-88A>C) c.2481-93A>C (n.2481-93A>C) c.3081A>C (p.Ala1027=) c.3018A>C (p.Ala1006=) n.2052A>C c.3087A>C (p.Ala1029=) | gnomAD v4 |
1 | g.6467986T= | CA1151516712 | PLEKHG5 | c.2850A= (p.Ala950=) c.3024A= (p.Ala1008=) c.2961A= (p.Ala987=) n.3326A= c.3057A= (p.Ala1019=) c.3147A= (p.Ala1049=) c.*3062A= (n.*3062A=) c.2250-93A= (n.2250-93A=) c.*2678A= (n.*2678A=) c.723A= (p.Ala241=) c.2738-88A= (n.2738-88A=) c.2481-93A= (n.2481-93A=) c.3081A= (p.Ala1027=) c.3018A= (p.Ala1006=) n.2052A= c.3087A= (p.Ala1029=) | |
1 | g.6467987G>A | CA338114506 | PLEKHG5 | c.2849C>T (p.Ala950Val) c.3023C>T (p.Ala1008Val) c.2960C>T (p.Ala987Val) n.3325C>T c.3056C>T (p.Ala1019Val) c.3146C>T (p.Ala1049Val) c.*3061C>T (n.*3061C>T) c.2250-94C>T (n.2250-94C>T) c.*2677C>T (n.*2677C>T) c.722C>T (p.Ala241Val) c.2738-89C>T (n.2738-89C>T) c.2481-94C>T (n.2481-94C>T) c.3080C>T (p.Ala1027Val) c.3017C>T (p.Ala1006Val) n.2051C>T c.3086C>T (p.Ala1029Val) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.6467987G>C | CA338114507 | PLEKHG5 | c.2849C>G (p.Ala950Gly) c.3023C>G (p.Ala1008Gly) c.2960C>G (p.Ala987Gly) n.3325C>G c.3056C>G (p.Ala1019Gly) c.3146C>G (p.Ala1049Gly) c.*3061C>G (n.*3061C>G) c.2250-94C>G (n.2250-94C>G) c.*2677C>G (n.*2677C>G) c.722C>G (p.Ala241Gly) c.2738-89C>G (n.2738-89C>G) c.2481-94C>G (n.2481-94C>G) c.3080C>G (p.Ala1027Gly) c.3017C>G (p.Ala1006Gly) n.2051C>G c.3086C>G (p.Ala1029Gly) | |
1 | g.6467987G= | CA1151516716 | PLEKHG5 | c.2849C= (p.Ala950=) c.3023C= (p.Ala1008=) c.2960C= (p.Ala987=) n.3325C= c.3056C= (p.Ala1019=) c.3146C= (p.Ala1049=) c.*3061C= (n.*3061C=) c.2250-94C= (n.2250-94C=) c.*2677C= (n.*2677C=) c.722C= (p.Ala241=) c.2738-89C= (n.2738-89C=) c.2481-94C= (n.2481-94C=) c.3080C= (p.Ala1027=) c.3017C= (p.Ala1006=) n.2051C= c.3086C= (p.Ala1029=) | |
1 | g.6467987G>T | CA338114509 | PLEKHG5 | c.2849C>A (p.Ala950Glu) c.3023C>A (p.Ala1008Glu) c.2960C>A (p.Ala987Glu) n.3325C>A c.3056C>A (p.Ala1019Glu) c.3146C>A (p.Ala1049Glu) c.*3061C>A (n.*3061C>A) c.2250-94C>A (n.2250-94C>A) c.*2677C>A (n.*2677C>A) c.722C>A (p.Ala241Glu) c.2738-89C>A (n.2738-89C>A) c.2481-94C>A (n.2481-94C>A) c.3080C>A (p.Ala1027Glu) c.3017C>A (p.Ala1006Glu) n.2051C>A c.3086C>A (p.Ala1029Glu) | gnomAD v4 |
1 | g.6467988C>A | CA10584152 | PLEKHG5 | c.2848G>T (p.Ala950Ser) c.3022G>T (p.Ala1008Ser) c.2959G>T (p.Ala987Ser) n.3324G>T c.3055G>T (p.Ala1019Ser) c.3145G>T (p.Ala1049Ser) c.*3060G>T (n.*3060G>T) c.2250-95G>T (n.2250-95G>T) c.*2676G>T (n.*2676G>T) c.721G>T (p.Ala241Ser) c.2738-90G>T (n.2738-90G>T) c.2481-95G>T (n.2481-95G>T) c.3079G>T (p.Ala1027Ser) c.3016G>T (p.Ala1006Ser) n.2050G>T c.3085G>T (p.Ala1029Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.6467988C= | CA1151516729 | PLEKHG5 | c.2848G= (p.Ala950=) c.3022G= (p.Ala1008=) c.2959G= (p.Ala987=) n.3324G= c.3055G= (p.Ala1019=) c.3145G= (p.Ala1049=) c.*3060G= (n.*3060G=) c.2250-95G= (n.2250-95G=) c.*2676G= (n.*2676G=) c.721G= (p.Ala241=) c.2738-90G= (n.2738-90G=) c.2481-95G= (n.2481-95G=) c.3079G= (p.Ala1027=) c.3016G= (p.Ala1006=) n.2050G= c.3085G= (p.Ala1029=) | |
1 | g.6467988C>G | CA338114511 | PLEKHG5 | c.2848G>C (p.Ala950Pro) c.3022G>C (p.Ala1008Pro) c.2959G>C (p.Ala987Pro) n.3324G>C c.3055G>C (p.Ala1019Pro) c.3145G>C (p.Ala1049Pro) c.*3060G>C (n.*3060G>C) c.2250-95G>C (n.2250-95G>C) c.*2676G>C (n.*2676G>C) c.721G>C (p.Ala241Pro) c.2738-90G>C (n.2738-90G>C) c.2481-95G>C (n.2481-95G>C) c.3079G>C (p.Ala1027Pro) c.3016G>C (p.Ala1006Pro) n.2050G>C c.3085G>C (p.Ala1029Pro) | |
1 | g.6467988C>T | CA338114516 | PLEKHG5 | c.2848G>A (p.Ala950Thr) c.3022G>A (p.Ala1008Thr) c.2959G>A (p.Ala987Thr) n.3324G>A c.3055G>A (p.Ala1019Thr) c.3145G>A (p.Ala1049Thr) c.*3060G>A (n.*3060G>A) c.2250-95G>A (n.2250-95G>A) c.*2676G>A (n.*2676G>A) c.721G>A (p.Ala241Thr) c.2738-90G>A (n.2738-90G>A) c.2481-95G>A (n.2481-95G>A) c.3079G>A (p.Ala1027Thr) c.3016G>A (p.Ala1006Thr) n.2050G>A c.3085G>A (p.Ala1029Thr) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.6467989A>C | CA416022193 | PLEKHG5 | c.2847T>G (p.Pro949=) c.3021T>G (p.Pro1007=) c.2958T>G (p.Pro986=) n.3323T>G c.3054T>G (p.Pro1018=) c.3144T>G (p.Pro1048=) c.*3059T>G (n.*3059T>G) c.2250-96T>G (n.2250-96T>G) c.*2675T>G (n.*2675T>G) c.720T>G (p.Pro240=) c.2738-91T>G (n.2738-91T>G) c.2481-96T>G (n.2481-96T>G) c.3078T>G (p.Pro1026=) c.3015T>G (p.Pro1005=) n.2049T>G c.3084T>G (p.Pro1028=) | |
1 | g.6467989A>G | CA416022195 | PLEKHG5 | c.2847T>C (p.Pro949=) c.3021T>C (p.Pro1007=) c.2958T>C (p.Pro986=) n.3323T>C c.3054T>C (p.Pro1018=) c.3144T>C (p.Pro1048=) c.*3059T>C (n.*3059T>C) c.2250-96T>C (n.2250-96T>C) c.*2675T>C (n.*2675T>C) c.720T>C (p.Pro240=) c.2738-91T>C (n.2738-91T>C) c.2481-96T>C (n.2481-96T>C) c.3078T>C (p.Pro1026=) c.3015T>C (p.Pro1005=) n.2049T>C c.3084T>C (p.Pro1028=) | gnomAD v4 |
1 | g.6467989A>T | CA416022196 | PLEKHG5 | c.2847T>A (p.Pro949=) c.3021T>A (p.Pro1007=) c.2958T>A (p.Pro986=) n.3323T>A c.3054T>A (p.Pro1018=) c.3144T>A (p.Pro1048=) c.*3059T>A (n.*3059T>A) c.2250-96T>A (n.2250-96T>A) c.*2675T>A (n.*2675T>A) c.720T>A (p.Pro240=) c.2738-91T>A (n.2738-91T>A) c.2481-96T>A (n.2481-96T>A) c.3078T>A (p.Pro1026=) c.3015T>A (p.Pro1005=) n.2049T>A c.3084T>A (p.Pro1028=) | |
1 | g.6467990G>A | CA561080 | PLEKHG5 | c.2846C>T (p.Pro949Leu) c.3020C>T (p.Pro1007Leu) c.2957C>T (p.Pro986Leu) n.3322C>T c.3053C>T (p.Pro1018Leu) c.3143C>T (p.Pro1048Leu) c.*3058C>T (n.*3058C>T) c.2250-97C>T (n.2250-97C>T) c.*2674C>T (n.*2674C>T) c.719C>T (p.Pro240Leu) c.2738-92C>T (n.2738-92C>T) c.2481-97C>T (n.2481-97C>T) c.3077C>T (p.Pro1026Leu) c.3014C>T (p.Pro1005Leu) n.2048C>T c.3083C>T (p.Pro1028Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
1 | g.6467990G>C | CA338114521 | PLEKHG5 | c.2846C>G (p.Pro949Arg) c.3020C>G (p.Pro1007Arg) c.2957C>G (p.Pro986Arg) n.3322C>G c.3053C>G (p.Pro1018Arg) c.3143C>G (p.Pro1048Arg) c.*3058C>G (n.*3058C>G) c.2250-97C>G (n.2250-97C>G) c.*2674C>G (n.*2674C>G) c.719C>G (p.Pro240Arg) c.2738-92C>G (n.2738-92C>G) c.2481-97C>G (n.2481-97C>G) c.3077C>G (p.Pro1026Arg) c.3014C>G (p.Pro1005Arg) n.2048C>G c.3083C>G (p.Pro1028Arg) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.6467990G= | CA1151516737 | PLEKHG5 | c.2846C= (p.Pro949=) c.3020C= (p.Pro1007=) c.2957C= (p.Pro986=) n.3322C= c.3053C= (p.Pro1018=) c.3143C= (p.Pro1048=) c.*3058C= (n.*3058C=) c.2250-97C= (n.2250-97C=) c.*2674C= (n.*2674C=) c.719C= (p.Pro240=) c.2738-92C= (n.2738-92C=) c.2481-97C= (n.2481-97C=) c.3077C= (p.Pro1026=) c.3014C= (p.Pro1005=) n.2048C= c.3083C= (p.Pro1028=) | |
1 | g.6467990G>T | CA338114524 | PLEKHG5 | c.2846C>A (p.Pro949His) c.3020C>A (p.Pro1007His) c.2957C>A (p.Pro986His) n.3322C>A c.3053C>A (p.Pro1018His) c.3143C>A (p.Pro1048His) c.*3058C>A (n.*3058C>A) c.2250-97C>A (n.2250-97C>A) c.*2674C>A (n.*2674C>A) c.719C>A (p.Pro240His) c.2738-92C>A (n.2738-92C>A) c.2481-97C>A (n.2481-97C>A) c.3077C>A (p.Pro1026His) c.3014C>A (p.Pro1005His) n.2048C>A c.3083C>A (p.Pro1028His) | |
1 | g.6467991G>A | CA338114527 | PLEKHG5 | c.2845C>T (p.Pro949Ser) c.3019C>T (p.Pro1007Ser) c.2956C>T (p.Pro986Ser) n.3321C>T c.3052C>T (p.Pro1018Ser) c.3142C>T (p.Pro1048Ser) c.*3057C>T (n.*3057C>T) c.2250-98C>T (n.2250-98C>T) c.*2673C>T (n.*2673C>T) c.718C>T (p.Pro240Ser) c.2738-93C>T (n.2738-93C>T) c.2481-98C>T (n.2481-98C>T) c.3076C>T (p.Pro1026Ser) c.3013C>T (p.Pro1005Ser) n.2047C>T c.3082C>T (p.Pro1028Ser) | gnomAD v4 |
1 | g.6467991G>C | CA338114528 | PLEKHG5 | c.2845C>G (p.Pro949Ala) c.3019C>G (p.Pro1007Ala) c.2956C>G (p.Pro986Ala) n.3321C>G c.3052C>G (p.Pro1018Ala) c.3142C>G (p.Pro1048Ala) c.*3057C>G (n.*3057C>G) c.2250-98C>G (n.2250-98C>G) c.*2673C>G (n.*2673C>G) c.718C>G (p.Pro240Ala) c.2738-93C>G (n.2738-93C>G) c.2481-98C>G (n.2481-98C>G) c.3076C>G (p.Pro1026Ala) c.3013C>G (p.Pro1005Ala) n.2047C>G c.3082C>G (p.Pro1028Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.6467991G= | CA1151516753 | PLEKHG5 | c.2845C= (p.Pro949=) c.3019C= (p.Pro1007=) c.2956C= (p.Pro986=) n.3321C= c.3052C= (p.Pro1018=) c.3142C= (p.Pro1048=) c.*3057C= (n.*3057C=) c.2250-98C= (n.2250-98C=) c.*2673C= (n.*2673C=) c.718C= (p.Pro240=) c.2738-93C= (n.2738-93C=) c.2481-98C= (n.2481-98C=) c.3076C= (p.Pro1026=) c.3013C= (p.Pro1005=) n.2047C= c.3082C= (p.Pro1028=) | |
1 | g.6467991G>T | CA338114532 | PLEKHG5 | c.2845C>A (p.Pro949Thr) c.3019C>A (p.Pro1007Thr) c.2956C>A (p.Pro986Thr) n.3321C>A c.3052C>A (p.Pro1018Thr) c.3142C>A (p.Pro1048Thr) c.*3057C>A (n.*3057C>A) c.2250-98C>A (n.2250-98C>A) c.*2673C>A (n.*2673C>A) c.718C>A (p.Pro240Thr) c.2738-93C>A (n.2738-93C>A) c.2481-98C>A (n.2481-98C>A) c.3076C>A (p.Pro1026Thr) c.3013C>A (p.Pro1005Thr) n.2047C>A c.3082C>A (p.Pro1028Thr) | |
1 | g.6467992T>A | CA338114538 | PLEKHG5 | c.2844A>T (p.Glu948Asp) c.3018A>T (p.Glu1006Asp) c.2955A>T (p.Glu985Asp) n.3320A>T c.3051A>T (p.Glu1017Asp) c.3141A>T (p.Glu1047Asp) c.*3056A>T (n.*3056A>T) c.2250-99A>T (n.2250-99A>T) c.*2672A>T (n.*2672A>T) c.717A>T (p.Glu239Asp) c.2738-94A>T (n.2738-94A>T) c.2481-99A>T (n.2481-99A>T) c.3075A>T (p.Glu1025Asp) c.3012A>T (p.Glu1004Asp) n.2046A>T c.3081A>T (p.Glu1027Asp) | |
1 | g.6467992T>C | CA416022197 | PLEKHG5 | c.2844A>G (p.Glu948=) c.3018A>G (p.Glu1006=) c.2955A>G (p.Glu985=) n.3320A>G c.3051A>G (p.Glu1017=) c.3141A>G (p.Glu1047=) c.*3056A>G (n.*3056A>G) c.2250-99A>G (n.2250-99A>G) c.*2672A>G (n.*2672A>G) c.717A>G (p.Glu239=) c.2738-94A>G (n.2738-94A>G) c.2481-99A>G (n.2481-99A>G) c.3075A>G (p.Glu1025=) c.3012A>G (p.Glu1004=) n.2046A>G c.3081A>G (p.Glu1027=) | |
1 | g.6467992T>G | CA338114536 | PLEKHG5 | c.2844A>C (p.Glu948Asp) c.3018A>C (p.Glu1006Asp) c.2955A>C (p.Glu985Asp) n.3320A>C c.3051A>C (p.Glu1017Asp) c.3141A>C (p.Glu1047Asp) c.*3056A>C (n.*3056A>C) c.2250-99A>C (n.2250-99A>C) c.*2672A>C (n.*2672A>C) c.717A>C (p.Glu239Asp) c.2738-94A>C (n.2738-94A>C) c.2481-99A>C (n.2481-99A>C) c.3075A>C (p.Glu1025Asp) c.3012A>C (p.Glu1004Asp) n.2046A>C c.3081A>C (p.Glu1027Asp) | |
1 | g.6467993T>A | CA338114540 | PLEKHG5 | c.2843A>T (p.Glu948Val) c.3017A>T (p.Glu1006Val) c.2954A>T (p.Glu985Val) n.3319A>T c.3050A>T (p.Glu1017Val) c.3140A>T (p.Glu1047Val) c.*3055A>T (n.*3055A>T) c.2250-100A>T (n.2250-100A>T) c.*2671A>T (n.*2671A>T) c.716A>T (p.Glu239Val) c.2738-95A>T (n.2738-95A>T) c.2481-100A>T (n.2481-100A>T) c.3074A>T (p.Glu1025Val) c.3011A>T (p.Glu1004Val) n.2045A>T c.3080A>T (p.Glu1027Val) | |
1 | g.6467993T>C | CA338114543 | PLEKHG5 | c.2843A>G (p.Glu948Gly) c.3017A>G (p.Glu1006Gly) c.2954A>G (p.Glu985Gly) n.3319A>G c.3050A>G (p.Glu1017Gly) c.3140A>G (p.Glu1047Gly) c.*3055A>G (n.*3055A>G) c.2250-100A>G (n.2250-100A>G) c.*2671A>G (n.*2671A>G) c.716A>G (p.Glu239Gly) c.2738-95A>G (n.2738-95A>G) c.2481-100A>G (n.2481-100A>G) c.3074A>G (p.Glu1025Gly) c.3011A>G (p.Glu1004Gly) n.2045A>G c.3080A>G (p.Glu1027Gly) | |
1 | g.6467993T>G | CA17233406 | PLEKHG5 | c.2843A>C (p.Glu948Ala) c.3017A>C (p.Glu1006Ala) c.2954A>C (p.Glu985Ala) n.3319A>C c.3050A>C (p.Glu1017Ala) c.3140A>C (p.Glu1047Ala) c.*3055A>C (n.*3055A>C) c.2250-100A>C (n.2250-100A>C) c.*2671A>C (n.*2671A>C) c.716A>C (p.Glu239Ala) c.2738-95A>C (n.2738-95A>C) c.2481-100A>C (n.2481-100A>C) c.3074A>C (p.Glu1025Ala) c.3011A>C (p.Glu1004Ala) n.2045A>C c.3080A>C (p.Glu1027Ala) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.6467993T= | CA1151516759 | PLEKHG5 | c.2843A= (p.Glu948=) c.3017A= (p.Glu1006=) c.2954A= (p.Glu985=) n.3319A= c.3050A= (p.Glu1017=) c.3140A= (p.Glu1047=) c.*3055A= (n.*3055A=) c.2250-100A= (n.2250-100A=) c.*2671A= (n.*2671A=) c.716A= (p.Glu239=) c.2738-95A= (n.2738-95A=) c.2481-100A= (n.2481-100A=) c.3074A= (p.Glu1025=) c.3011A= (p.Glu1004=) n.2045A= c.3080A= (p.Glu1027=) | |
1 | g.6467993_6467994delinsTC | CA1151516760 | PLEKHG5 | c.2842_2843delinsGA (p.Glu948=) c.3016_3017delinsGA (p.Glu1006=) c.2953_2954delinsGA (p.Glu985=) n.3318_3319delinsGA c.3049_3050delinsGA (p.Glu1017=) c.3139_3140delinsGA (p.Glu1047=) c.*3054_*3055delinsGA (n.*3054_*3055delinsGA) c.2250-101_2250-100delinsGA (n.2250-101_2250-100delinsGA) c.*2670_*2671delinsGA (n.*2670_*2671delinsGA) c.715_716delinsGA (p.Glu239=) c.2738-96_2738-95delinsGA (n.2738-96_2738-95delinsGA) c.2481-101_2481-100delinsGA (n.2481-101_2481-100delinsGA) c.3073_3074delinsGA (p.Glu1025=) c.3010_3011delinsGA (p.Glu1004=) n.2044_2045delinsGA c.3079_3080delinsGA (p.Glu1027=) | |
1 | g.6467994C>A | CA338114551 | PLEKHG5 | c.2842G>T (p.Glu948Ter) c.3016G>T (p.Glu1006Ter) c.2953G>T (p.Glu985Ter) n.3318G>T c.3049G>T (p.Glu1017Ter) c.3139G>T (p.Glu1047Ter) c.*3054G>T (n.*3054G>T) c.2250-101G>T (n.2250-101G>T) c.*2670G>T (n.*2670G>T) c.715G>T (p.Glu239Ter) c.2738-96G>T (n.2738-96G>T) c.2481-101G>T (n.2481-101G>T) c.3073G>T (p.Glu1025Ter) c.3010G>T (p.Glu1004Ter) n.2044G>T c.3079G>T (p.Glu1027Ter) | |
1 | g.6467994C= | CA1151516767 | PLEKHG5 | c.2842G= (p.Glu948=) c.3016G= (p.Glu1006=) c.2953G= (p.Glu985=) n.3318G= c.3049G= (p.Glu1017=) c.3139G= (p.Glu1047=) c.*3054G= (n.*3054G=) c.2250-101G= (n.2250-101G=) c.*2670G= (n.*2670G=) c.715G= (p.Glu239=) c.2738-96G= (n.2738-96G=) c.2481-101G= (n.2481-101G=) c.3073G= (p.Glu1025=) c.3010G= (p.Glu1004=) n.2044G= c.3079G= (p.Glu1027=) | |
1 | g.6467994C>G | CA338114554 | PLEKHG5 | c.2842G>C (p.Glu948Gln) c.3016G>C (p.Glu1006Gln) c.2953G>C (p.Glu985Gln) n.3318G>C c.3049G>C (p.Glu1017Gln) c.3139G>C (p.Glu1047Gln) c.*3054G>C (n.*3054G>C) c.2250-101G>C (n.2250-101G>C) c.*2670G>C (n.*2670G>C) c.715G>C (p.Glu239Gln) c.2738-96G>C (n.2738-96G>C) c.2481-101G>C (n.2481-101G>C) c.3073G>C (p.Glu1025Gln) c.3010G>C (p.Glu1004Gln) n.2044G>C c.3079G>C (p.Glu1027Gln) | |
1 | g.6467994C>T | CA17233410 | PLEKHG5 | c.2842G>A (p.Glu948Lys) c.3016G>A (p.Glu1006Lys) c.2953G>A (p.Glu985Lys) n.3318G>A c.3049G>A (p.Glu1017Lys) c.3139G>A (p.Glu1047Lys) c.*3054G>A (n.*3054G>A) c.2250-101G>A (n.2250-101G>A) c.*2670G>A (n.*2670G>A) c.715G>A (p.Glu239Lys) c.2738-96G>A (n.2738-96G>A) c.2481-101G>A (n.2481-101G>A) c.3073G>A (p.Glu1025Lys) c.3010G>A (p.Glu1004Lys) n.2044G>A c.3079G>A (p.Glu1027Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.6467997del | CA561081 | PLEKHG5 | c.2842del (p.Glu948AsnfsTer?) c.3016del (p.Glu1006AsnfsTer?) c.2953del (p.Glu985AsnfsTer?) n.3318del c.3049del (p.Glu1017AsnfsTer?) c.3139del (p.Glu1047AsnfsTer?) c.*3054del (n.*3054del) c.2250-101del (n.2250-101del) c.*2670del (n.*2670del) c.715del (p.Glu239AsnfsTer?) c.2738-96del (n.2738-96del) c.2481-101del (n.2481-101del) c.3073del (p.Glu1025AsnfsTer?) c.3010del (p.Glu1004AsnfsTer?) n.2044del c.3079del (p.Glu1027AsnfsTer?) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.6467995C>A | CA416022202 | PLEKHG5 | c.2841G>T (p.Gly947=) c.3015G>T (p.Gly1005=) c.2952G>T (p.Gly984=) n.3317G>T c.3048G>T (p.Gly1016=) c.3138G>T (p.Gly1046=) c.*3053G>T (n.*3053G>T) c.2250-102G>T (n.2250-102G>T) c.*2669G>T (n.*2669G>T) c.714G>T (p.Gly238=) c.2738-97G>T (n.2738-97G>T) c.2481-102G>T (n.2481-102G>T) c.3072G>T (p.Gly1024=) c.3009G>T (p.Gly1003=) n.2043G>T c.3078G>T (p.Gly1026=) | |
1 | g.6467995C= | CA1151516773 | PLEKHG5 | c.2841G= (p.Gly947=) c.3015G= (p.Gly1005=) c.2952G= (p.Gly984=) n.3317G= c.3048G= (p.Gly1016=) c.3138G= (p.Gly1046=) c.*3053G= (n.*3053G=) c.2250-102G= (n.2250-102G=) c.*2669G= (n.*2669G=) c.714G= (p.Gly238=) c.2738-97G= (n.2738-97G=) c.2481-102G= (n.2481-102G=) c.3072G= (p.Gly1024=) c.3009G= (p.Gly1003=) n.2043G= c.3078G= (p.Gly1026=) | |
1 | g.6467995C>G | CA416022201 | PLEKHG5 | c.2841G>C (p.Gly947=) c.3015G>C (p.Gly1005=) c.2952G>C (p.Gly984=) n.3317G>C c.3048G>C (p.Gly1016=) c.3138G>C (p.Gly1046=) c.*3053G>C (n.*3053G>C) c.2250-102G>C (n.2250-102G>C) c.*2669G>C (n.*2669G>C) c.714G>C (p.Gly238=) c.2738-97G>C (n.2738-97G>C) c.2481-102G>C (n.2481-102G>C) c.3072G>C (p.Gly1024=) c.3009G>C (p.Gly1003=) n.2043G>C c.3078G>C (p.Gly1026=) | |
1 | g.6467995C>T | CA561082 | PLEKHG5 | c.2841G>A (p.Gly947=) c.3015G>A (p.Gly1005=) c.2952G>A (p.Gly984=) n.3317G>A c.3048G>A (p.Gly1016=) c.3138G>A (p.Gly1046=) c.*3053G>A (n.*3053G>A) c.2250-102G>A (n.2250-102G>A) c.*2669G>A (n.*2669G>A) c.714G>A (p.Gly238=) c.2738-97G>A (n.2738-97G>A) c.2481-102G>A (n.2481-102G>A) c.3072G>A (p.Gly1024=) c.3009G>A (p.Gly1003=) n.2043G>A c.3078G>A (p.Gly1026=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.6467996C>A | CA338114559 | PLEKHG5 | c.2840G>T (p.Gly947Val) c.3014G>T (p.Gly1005Val) c.2951G>T (p.Gly984Val) n.3316G>T c.3047G>T (p.Gly1016Val) c.3137G>T (p.Gly1046Val) c.*3052G>T (n.*3052G>T) c.2250-103G>T (n.2250-103G>T) c.*2668G>T (n.*2668G>T) c.713G>T (p.Gly238Val) c.2738-98G>T (n.2738-98G>T) c.2481-103G>T (n.2481-103G>T) c.3071G>T (p.Gly1024Val) c.3008G>T (p.Gly1003Val) n.2042G>T c.3077G>T (p.Gly1026Val) | dbSNP gnomAD v2 |
1 | g.6467996C= | CA1151516780 | PLEKHG5 | c.2840G= (p.Gly947=) c.3014G= (p.Gly1005=) c.2951G= (p.Gly984=) n.3316G= c.3047G= (p.Gly1016=) c.3137G= (p.Gly1046=) c.*3052G= (n.*3052G=) c.2250-103G= (n.2250-103G=) c.*2668G= (n.*2668G=) c.713G= (p.Gly238=) c.2738-98G= (n.2738-98G=) c.2481-103G= (n.2481-103G=) c.3071G= (p.Gly1024=) c.3008G= (p.Gly1003=) n.2042G= c.3077G= (p.Gly1026=) | |
1 | g.6467996C>G | CA338114562 | PLEKHG5 | c.2840G>C (p.Gly947Ala) c.3014G>C (p.Gly1005Ala) c.2951G>C (p.Gly984Ala) n.3316G>C c.3047G>C (p.Gly1016Ala) c.3137G>C (p.Gly1046Ala) c.*3052G>C (n.*3052G>C) c.2250-103G>C (n.2250-103G>C) c.*2668G>C (n.*2668G>C) c.713G>C (p.Gly238Ala) c.2738-98G>C (n.2738-98G>C) c.2481-103G>C (n.2481-103G>C) c.3071G>C (p.Gly1024Ala) c.3008G>C (p.Gly1003Ala) n.2042G>C c.3077G>C (p.Gly1026Ala) | |
1 | g.6467996C>T | CA338114565 | PLEKHG5 | c.2840G>A (p.Gly947Glu) c.3014G>A (p.Gly1005Glu) c.2951G>A (p.Gly984Glu) n.3316G>A c.3047G>A (p.Gly1016Glu) c.3137G>A (p.Gly1046Glu) c.*3052G>A (n.*3052G>A) c.2250-103G>A (n.2250-103G>A) c.*2668G>A (n.*2668G>A) c.713G>A (p.Gly238Glu) c.2738-98G>A (n.2738-98G>A) c.2481-103G>A (n.2481-103G>A) c.3071G>A (p.Gly1024Glu) c.3008G>A (p.Gly1003Glu) n.2042G>A c.3077G>A (p.Gly1026Glu) | |
1 | g.6467997C>A | CA338114569 | PLEKHG5 | c.2839G>T (p.Gly947Trp) c.3013G>T (p.Gly1005Trp) c.2950G>T (p.Gly984Trp) n.3315G>T c.3046G>T (p.Gly1016Trp) c.3136G>T (p.Gly1046Trp) c.*3051G>T (n.*3051G>T) c.2250-104G>T (n.2250-104G>T) c.*2667G>T (n.*2667G>T) c.712G>T (p.Gly238Trp) c.2738-99G>T (n.2738-99G>T) c.2481-104G>T (n.2481-104G>T) c.3070G>T (p.Gly1024Trp) c.3007G>T (p.Gly1003Trp) n.2041G>T c.3076G>T (p.Gly1026Trp) | gnomAD v4 |
1 | g.6467997C= | CA1146372347 | PLEKHG5 | c.2839G= (p.Gly947=) c.3013G= (p.Gly1005=) c.2950G= (p.Gly984=) n.3315G= c.3046G= (p.Gly1016=) c.3136G= (p.Gly1046=) c.*3051G= (n.*3051G=) c.2250-104G= (n.2250-104G=) c.*2667G= (n.*2667G=) c.712G= (p.Gly238=) c.2738-99G= (n.2738-99G=) c.2481-104G= (n.2481-104G=) c.3070G= (p.Gly1024=) c.3007G= (p.Gly1003=) n.2041G= c.3076G= (p.Gly1026=) | |
1 | g.6467997C>G | CA338114571 | PLEKHG5 | c.2839G>C (p.Gly947Arg) c.3013G>C (p.Gly1005Arg) c.2950G>C (p.Gly984Arg) n.3315G>C c.3046G>C (p.Gly1016Arg) c.3136G>C (p.Gly1046Arg) c.*3051G>C (n.*3051G>C) c.2250-104G>C (n.2250-104G>C) c.*2667G>C (n.*2667G>C) c.712G>C (p.Gly238Arg) c.2738-99G>C (n.2738-99G>C) c.2481-104G>C (n.2481-104G>C) c.3070G>C (p.Gly1024Arg) c.3007G>C (p.Gly1003Arg) n.2041G>C c.3076G>C (p.Gly1026Arg) | gnomAD v4 |
1 | g.6467997C>T | CA17233415 | PLEKHG5 | c.2839G>A (p.Gly947Arg) c.3013G>A (p.Gly1005Arg) c.2950G>A (p.Gly984Arg) n.3315G>A c.3046G>A (p.Gly1016Arg) c.3136G>A (p.Gly1046Arg) c.*3051G>A (n.*3051G>A) c.2250-104G>A (n.2250-104G>A) c.*2667G>A (n.*2667G>A) c.712G>A (p.Gly238Arg) c.2738-99G>A (n.2738-99G>A) c.2481-104G>A (n.2481-104G>A) c.3070G>A (p.Gly1024Arg) c.3007G>A (p.Gly1003Arg) n.2041G>A c.3076G>A (p.Gly1026Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |