| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.6467888A>C | CA338113715 | PLEKHG5 | c.2948T>G (p.Leu983Arg) c.3122T>G (p.Leu1041Arg) c.3059T>G (p.Leu1020Arg) n.3424T>G c.3155T>G (p.Leu1052Arg) c.3245T>G (p.Leu1082Arg) c.*3160T>G (n.*3160T>G) c.2255T>G (p.Leu752Arg) c.*2776T>G (n.*2776T>G) c.821T>G (p.Leu274Arg) c.2748T>G (p.Ala916=) c.2486T>G (p.Leu829Arg) c.3179T>G (p.Leu1060Arg) c.3116T>G (p.Leu1039Arg) n.2150T>G c.3185T>G (p.Leu1062Arg) | |
| 1 | g.6467888A>G | CA338113719 | PLEKHG5 | c.2948T>C (p.Leu983Pro) c.3122T>C (p.Leu1041Pro) c.3059T>C (p.Leu1020Pro) n.3424T>C c.3155T>C (p.Leu1052Pro) c.3245T>C (p.Leu1082Pro) c.*3160T>C (n.*3160T>C) c.2255T>C (p.Leu752Pro) c.*2776T>C (n.*2776T>C) c.821T>C (p.Leu274Pro) c.2748T>C (p.Ala916=) c.2486T>C (p.Leu829Pro) c.3179T>C (p.Leu1060Pro) c.3116T>C (p.Leu1039Pro) n.2150T>C c.3185T>C (p.Leu1062Pro) | |
| 1 | g.6467888A>T | CA338113722 | PLEKHG5 | c.2948T>A (p.Leu983Gln) c.3122T>A (p.Leu1041Gln) c.3059T>A (p.Leu1020Gln) n.3424T>A c.3155T>A (p.Leu1052Gln) c.3245T>A (p.Leu1082Gln) c.*3160T>A (n.*3160T>A) c.2255T>A (p.Leu752Gln) c.*2776T>A (n.*2776T>A) c.821T>A (p.Leu274Gln) c.2748T>A (p.Ala916=) c.2486T>A (p.Leu829Gln) c.3179T>A (p.Leu1060Gln) c.3116T>A (p.Leu1039Gln) n.2150T>A c.3185T>A (p.Leu1062Gln) | |
| 1 | g.6467889G>A | CA338113727 | PLEKHG5 | c.2947C>T (p.Leu983=) c.3121C>T (p.Leu1041=) c.3058C>T (p.Leu1020=) n.3423C>T c.3154C>T (p.Leu1052=) c.3244C>T (p.Leu1082=) c.*3159C>T (n.*3159C>T) c.2254C>T (p.Leu752=) c.*2775C>T (n.*2775C>T) c.820C>T (p.Leu274=) c.2747C>T (p.Ala916Val) c.2485C>T (p.Leu829=) c.3178C>T (p.Leu1060=) c.3115C>T (p.Leu1039=) n.2149C>T c.3184C>T (p.Leu1062=) | |
| 1 | g.6467889G>C | CA338113726 | PLEKHG5 | c.2947C>G (p.Leu983Val) c.3121C>G (p.Leu1041Val) c.3058C>G (p.Leu1020Val) n.3423C>G c.3154C>G (p.Leu1052Val) c.3244C>G (p.Leu1082Val) c.*3159C>G (n.*3159C>G) c.2254C>G (p.Leu752Val) c.*2775C>G (n.*2775C>G) c.820C>G (p.Leu274Val) c.2747C>G (p.Ala916Gly) c.2485C>G (p.Leu829Val) c.3178C>G (p.Leu1060Val) c.3115C>G (p.Leu1039Val) n.2149C>G c.3184C>G (p.Leu1062Val) | |
| 1 | g.6467889G>T | CA338113724 | PLEKHG5 | c.2947C>A (p.Leu983Met) c.3121C>A (p.Leu1041Met) c.3058C>A (p.Leu1020Met) n.3423C>A c.3154C>A (p.Leu1052Met) c.3244C>A (p.Leu1082Met) c.*3159C>A (n.*3159C>A) c.2254C>A (p.Leu752Met) c.*2775C>A (n.*2775C>A) c.820C>A (p.Leu274Met) c.2747C>A (p.Ala916Asp) c.2485C>A (p.Leu829Met) c.3178C>A (p.Leu1060Met) c.3115C>A (p.Leu1039Met) n.2149C>A c.3184C>A (p.Leu1062Met) | |
| 1 | g.6467890C>A | CA338113730 | PLEKHG5 | c.2946G>T (p.Lys982Asn) c.3120G>T (p.Lys1040Asn) c.3057G>T (p.Lys1019Asn) n.3422G>T c.3153G>T (p.Lys1051Asn) c.3243G>T (p.Lys1081Asn) c.*3158G>T (n.*3158G>T) c.2253G>T (p.Lys751Asn) c.*2774G>T (n.*2774G>T) c.819G>T (p.Lys273Asn) c.2746G>T (p.Ala916Ser) c.2484G>T (p.Lys828Asn) c.3177G>T (p.Lys1059Asn) c.3114G>T (p.Lys1038Asn) n.2148G>T c.3183G>T (p.Lys1061Asn) | gnomAD v4 |
| 1 | g.6467890C= | CA1151516399 | PLEKHG5 | c.2946G= (p.Lys982=) c.3120G= (p.Lys1040=) c.3057G= (p.Lys1019=) n.3422G= c.3153G= (p.Lys1051=) c.3243G= (p.Lys1081=) c.*3158G= (n.*3158G=) c.2253G= (p.Lys751=) c.*2774G= (n.*2774G=) c.819G= (p.Lys273=) c.2746G= (p.Ala916=) c.2484G= (p.Lys828=) c.3177G= (p.Lys1059=) c.3114G= (p.Lys1038=) n.2148G= c.3183G= (p.Lys1061=) | |
| 1 | g.6467890C>G | CA338113733 | PLEKHG5 | c.2946G>C (p.Lys982Asn) c.3120G>C (p.Lys1040Asn) c.3057G>C (p.Lys1019Asn) n.3422G>C c.3153G>C (p.Lys1051Asn) c.3243G>C (p.Lys1081Asn) c.*3158G>C (n.*3158G>C) c.2253G>C (p.Lys751Asn) c.*2774G>C (n.*2774G>C) c.819G>C (p.Lys273Asn) c.2746G>C (p.Ala916Pro) c.2484G>C (p.Lys828Asn) c.3177G>C (p.Lys1059Asn) c.3114G>C (p.Lys1038Asn) n.2148G>C c.3183G>C (p.Lys1061Asn) | |
| 1 | g.6467890C>T | CA338113736 | PLEKHG5 | c.2946G>A (p.Lys982=) c.3120G>A (p.Lys1040=) c.3057G>A (p.Lys1019=) n.3422G>A c.3153G>A (p.Lys1051=) c.3243G>A (p.Lys1081=) c.*3158G>A (n.*3158G>A) c.2253G>A (p.Lys751=) c.*2774G>A (n.*2774G>A) c.819G>A (p.Lys273=) c.2746G>A (p.Ala916Thr) c.2484G>A (p.Lys828=) c.3177G>A (p.Lys1059=) c.3114G>A (p.Lys1038=) n.2148G>A c.3183G>A (p.Lys1061=) | dbSNP |
| 1 | g.6467891T>A | CA338113739 | PLEKHG5 | c.2945A>T (p.Lys982Met) c.3119A>T (p.Lys1040Met) c.3056A>T (p.Lys1019Met) n.3421A>T c.3152A>T (p.Lys1051Met) c.3242A>T (p.Lys1081Met) c.*3157A>T (n.*3157A>T) c.2252A>T (p.Lys751Met) c.*2773A>T (n.*2773A>T) c.818A>T (p.Lys273Met) c.2745A>T (p.Glu915Asp) c.2483A>T (p.Lys828Met) c.3176A>T (p.Lys1059Met) c.3113A>T (p.Lys1038Met) n.2147A>T c.3182A>T (p.Lys1061Met) | |
| 1 | g.6467891T>C | CA338113742 | PLEKHG5 | c.2945A>G (p.Lys982Arg) c.3119A>G (p.Lys1040Arg) c.3056A>G (p.Lys1019Arg) n.3421A>G c.3152A>G (p.Lys1051Arg) c.3242A>G (p.Lys1081Arg) c.*3157A>G (n.*3157A>G) c.2252A>G (p.Lys751Arg) c.*2773A>G (n.*2773A>G) c.818A>G (p.Lys273Arg) c.2745A>G (p.Glu915=) c.2483A>G (p.Lys828Arg) c.3176A>G (p.Lys1059Arg) c.3113A>G (p.Lys1038Arg) n.2147A>G c.3182A>G (p.Lys1061Arg) | dbSNP |
| 1 | g.6467891T>G | CA338113747 | PLEKHG5 | c.2945A>C (p.Lys982Thr) c.3119A>C (p.Lys1040Thr) c.3056A>C (p.Lys1019Thr) n.3421A>C c.3152A>C (p.Lys1051Thr) c.3242A>C (p.Lys1081Thr) c.*3157A>C (n.*3157A>C) c.2252A>C (p.Lys751Thr) c.*2773A>C (n.*2773A>C) c.818A>C (p.Lys273Thr) c.2745A>C (p.Glu915Asp) c.2483A>C (p.Lys828Thr) c.3176A>C (p.Lys1059Thr) c.3113A>C (p.Lys1038Thr) n.2147A>C c.3182A>C (p.Lys1061Thr) | |
| 1 | g.6467891T= | CA1151516406 | PLEKHG5 | c.2945A= (p.Lys982=) c.3119A= (p.Lys1040=) c.3056A= (p.Lys1019=) n.3421A= c.3152A= (p.Lys1051=) c.3242A= (p.Lys1081=) c.*3157A= (n.*3157A=) c.2252A= (p.Lys751=) c.*2773A= (n.*2773A=) c.818A= (p.Lys273=) c.2745A= (p.Glu915=) c.2483A= (p.Lys828=) c.3176A= (p.Lys1059=) c.3113A= (p.Lys1038=) n.2147A= c.3182A= (p.Lys1061=) | |
| 1 | g.6467892del | CA2740090570 | PLEKHG5 | c.2945del (p.Lys982SerfsTer2) c.3119del (p.Lys1040SerfsTer2) c.3056del (p.Lys1019SerfsTer2) n.3421del c.3152del (p.Lys1051SerfsTer2) c.3242del (p.Lys1081SerfsTer2) c.*3157del (n.*3157del) c.2252del (p.Lys751SerfsTer2) c.*2773del (n.*2773del) c.818del (p.Lys273SerfsTer2) c.2745del (p.Ala916LeufsTer25) c.2483del (p.Lys828SerfsTer2) c.3176del (p.Lys1059SerfsTer2) c.3113del (p.Lys1038SerfsTer2) n.2147del c.3182del (p.Lys1061SerfsTer2) | ClinVar |
| 1 | g.6467892T>A | CA338113749 | PLEKHG5 | c.2944A>T (p.Lys982Ter) c.3118A>T (p.Lys1040Ter) c.3055A>T (p.Lys1019Ter) n.3420A>T c.3151A>T (p.Lys1051Ter) c.3241A>T (p.Lys1081Ter) c.*3156A>T (n.*3156A>T) c.2251A>T (p.Lys751Ter) c.*2772A>T (n.*2772A>T) c.817A>T (p.Lys273Ter) c.2744A>T (p.Glu915Val) c.2482A>T (p.Lys828Ter) c.3175A>T (p.Lys1059Ter) c.3112A>T (p.Lys1038Ter) n.2146A>T c.3181A>T (p.Lys1061Ter) | |
| 1 | g.6467892T>C | CA561060 | PLEKHG5 | c.2944A>G (p.Lys982Glu) c.3118A>G (p.Lys1040Glu) c.3055A>G (p.Lys1019Glu) n.3420A>G c.3151A>G (p.Lys1051Glu) c.3241A>G (p.Lys1081Glu) c.*3156A>G (n.*3156A>G) c.2251A>G (p.Lys751Glu) c.*2772A>G (n.*2772A>G) c.817A>G (p.Lys273Glu) c.2744A>G (p.Glu915Gly) c.2482A>G (p.Lys828Glu) c.3175A>G (p.Lys1059Glu) c.3112A>G (p.Lys1038Glu) n.2146A>G c.3181A>G (p.Lys1061Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.6467892T>G | CA338113754 | PLEKHG5 | c.2944A>C (p.Lys982Gln) c.3118A>C (p.Lys1040Gln) c.3055A>C (p.Lys1019Gln) n.3420A>C c.3151A>C (p.Lys1051Gln) c.3241A>C (p.Lys1081Gln) c.*3156A>C (n.*3156A>C) c.2251A>C (p.Lys751Gln) c.*2772A>C (n.*2772A>C) c.817A>C (p.Lys273Gln) c.2744A>C (p.Glu915Ala) c.2482A>C (p.Lys828Gln) c.3175A>C (p.Lys1059Gln) c.3112A>C (p.Lys1038Gln) n.2146A>C c.3181A>C (p.Lys1061Gln) | |
| 1 | g.6467892T= | CA1151516412 | PLEKHG5 | c.2944A= (p.Lys982=) c.3118A= (p.Lys1040=) c.3055A= (p.Lys1019=) n.3420A= c.3151A= (p.Lys1051=) c.3241A= (p.Lys1081=) c.*3156A= (n.*3156A=) c.2251A= (p.Lys751=) c.*2772A= (n.*2772A=) c.817A= (p.Lys273=) c.2744A= (p.Glu915=) c.2482A= (p.Lys828=) c.3175A= (p.Lys1059=) c.3112A= (p.Lys1038=) n.2146A= c.3181A= (p.Lys1061=) | |
| 1 | g.6467893C>A | CA338113756 | PLEKHG5 | c.2943G>T (p.Arg981Ser) c.3117G>T (p.Arg1039Ser) c.3054G>T (p.Arg1018Ser) n.3419G>T c.3150G>T (p.Arg1050Ser) c.3240G>T (p.Arg1080Ser) c.*3155G>T (n.*3155G>T) c.2250G>T (p.Trp750Cys) c.*2771G>T (n.*2771G>T) c.816G>T (p.Arg272Ser) c.2743G>T (p.Glu915Ter) c.2481G>T (p.Trp827Cys) c.3174G>T (p.Arg1058Ser) c.3111G>T (p.Arg1037Ser) n.2145G>T c.3180G>T (p.Arg1060Ser) | |
| 1 | g.6467893C>G | CA338113761 | PLEKHG5 | c.2943G>C (p.Arg981Ser) c.3117G>C (p.Arg1039Ser) c.3054G>C (p.Arg1018Ser) n.3419G>C c.3150G>C (p.Arg1050Ser) c.3240G>C (p.Arg1080Ser) c.*3155G>C (n.*3155G>C) c.2250G>C (p.Trp750Cys) c.*2771G>C (n.*2771G>C) c.816G>C (p.Arg272Ser) c.2743G>C (p.Glu915Gln) c.2481G>C (p.Trp827Cys) c.3174G>C (p.Arg1058Ser) c.3111G>C (p.Arg1037Ser) n.2145G>C c.3180G>C (p.Arg1060Ser) | |
| 1 | g.6467893C>T | CA338113763 | PLEKHG5 | c.2943G>A (p.Arg981=) c.3117G>A (p.Arg1039=) c.3054G>A (p.Arg1018=) n.3419G>A c.3150G>A (p.Arg1050=) c.3240G>A (p.Arg1080=) c.*3155G>A (n.*3155G>A) c.2250G>A (p.Trp750Ter) c.*2771G>A (n.*2771G>A) c.816G>A (p.Arg272=) c.2743G>A (p.Glu915Lys) c.2481G>A (p.Trp827Ter) c.3174G>A (p.Arg1058=) c.3111G>A (p.Arg1037=) n.2145G>A c.3180G>A (p.Arg1060=) | |
| 1 | g.6467894C>A | CA338113772 | PLEKHG5 | c.2942G>T (p.Arg981Met) c.3116G>T (p.Arg1039Met) c.3053G>T (p.Arg1018Met) n.3418G>T c.3149G>T (p.Arg1050Met) c.3239G>T (p.Arg1080Met) c.*3154G>T (n.*3154G>T) c.2250-1G>T (n.2250-1G>T) c.*2770G>T (n.*2770G>T) c.815G>T (p.Arg272Met) c.2742G>T (p.Gln914His) c.2481-1G>T (n.2481-1G>T) c.3173G>T (p.Arg1058Met) c.3110G>T (p.Arg1037Met) n.2144G>T c.3179G>T (p.Arg1060Met) | dbSNP |
| 1 | g.6467894C= | CA1151516417 | PLEKHG5 | c.2942G= (p.Arg981=) c.3116G= (p.Arg1039=) c.3053G= (p.Arg1018=) n.3418G= c.3149G= (p.Arg1050=) c.3239G= (p.Arg1080=) c.*3154G= (n.*3154G=) c.2250-1G= (n.2250-1G=) c.*2770G= (n.*2770G=) c.815G= (p.Arg272=) c.2742G= (p.Gln914=) c.2481-1G= (n.2481-1G=) c.3173G= (p.Arg1058=) c.3110G= (p.Arg1037=) n.2144G= c.3179G= (p.Arg1060=) | |
| 1 | g.6467894C>G | CA338113769 | PLEKHG5 | c.2942G>C (p.Arg981Thr) c.3116G>C (p.Arg1039Thr) c.3053G>C (p.Arg1018Thr) n.3418G>C c.3149G>C (p.Arg1050Thr) c.3239G>C (p.Arg1080Thr) c.*3154G>C (n.*3154G>C) c.2250-1G>C (n.2250-1G>C) c.*2770G>C (n.*2770G>C) c.815G>C (p.Arg272Thr) c.2742G>C (p.Gln914His) c.2481-1G>C (n.2481-1G>C) c.3173G>C (p.Arg1058Thr) c.3110G>C (p.Arg1037Thr) n.2144G>C c.3179G>C (p.Arg1060Thr) | |
| 1 | g.6467894C>T | CA338113767 | PLEKHG5 | c.2942G>A (p.Arg981Lys) c.3116G>A (p.Arg1039Lys) c.3053G>A (p.Arg1018Lys) n.3418G>A c.3149G>A (p.Arg1050Lys) c.3239G>A (p.Arg1080Lys) c.*3154G>A (n.*3154G>A) c.2250-1G>A (n.2250-1G>A) c.*2770G>A (n.*2770G>A) c.815G>A (p.Arg272Lys) c.2742G>A (p.Gln914=) c.2481-1G>A (n.2481-1G>A) c.3173G>A (p.Arg1058Lys) c.3110G>A (p.Arg1037Lys) n.2144G>A c.3179G>A (p.Arg1060Lys) | dbSNP gnomAD v2 |
| 1 | g.6467894_6467896delinsCTG | CA1151516419 | PLEKHG5 | c.2940_2942delinsCAG (p.His980=) c.3114_3116delinsCAG (p.His1038=) c.3051_3053delinsCAG (p.His1017=) n.3416_3418delinsCAG c.3147_3149delinsCAG (p.His1049=) c.3237_3239delinsCAG (p.His1079=) c.*3152_*3154delinsCAG (n.*3152_*3154delinsCAG) c.2250-3_2250-1delinsCAG (n.2250-3_2250-1delinsCAG) c.*2768_*2770delinsCAG (n.*2768_*2770delinsCAG) c.813_815delinsCAG (p.His271=) c.2740_2742delinsCAG (p.Gln914=) c.2481-3_2481-1delinsCAG (n.2481-3_2481-1delinsCAG) c.3171_3173delinsCAG (p.His1057=) c.3108_3110delinsCAG (p.His1036=) n.2142_2144delinsCAG c.3177_3179delinsCAG (p.His1059=) | |
| 1 | g.6467895T>A | CA338113774 | PLEKHG5 | c.2941A>T (p.Arg981Trp) c.3115A>T (p.Arg1039Trp) c.3052A>T (p.Arg1018Trp) n.3417A>T c.3148A>T (p.Arg1050Trp) c.3238A>T (p.Arg1080Trp) c.*3153A>T (n.*3153A>T) c.2250-2A>T (n.2250-2A>T) c.*2769A>T (n.*2769A>T) c.814A>T (p.Arg272Trp) c.2741A>T (p.Gln914Leu) c.2481-2A>T (n.2481-2A>T) c.3172A>T (p.Arg1058Trp) c.3109A>T (p.Arg1037Trp) n.2143A>T c.3178A>T (p.Arg1060Trp) | |
| 1 | g.6467895T>C | CA338113779 | PLEKHG5 | c.2941A>G (p.Arg981Gly) c.3115A>G (p.Arg1039Gly) c.3052A>G (p.Arg1018Gly) n.3417A>G c.3148A>G (p.Arg1050Gly) c.3238A>G (p.Arg1080Gly) c.*3153A>G (n.*3153A>G) c.2250-2A>G (n.2250-2A>G) c.*2769A>G (n.*2769A>G) c.814A>G (p.Arg272Gly) c.2741A>G (p.Gln914Arg) c.2481-2A>G (n.2481-2A>G) c.3172A>G (p.Arg1058Gly) c.3109A>G (p.Arg1037Gly) n.2143A>G c.3178A>G (p.Arg1060Gly) | |
| 1 | g.6467895T>G | CA338113776 | PLEKHG5 | c.2941A>C (p.Arg981=) c.3115A>C (p.Arg1039=) c.3052A>C (p.Arg1018=) n.3417A>C c.3148A>C (p.Arg1050=) c.3238A>C (p.Arg1080=) c.*3153A>C (n.*3153A>C) c.2250-2A>C (n.2250-2A>C) c.*2769A>C (n.*2769A>C) c.814A>C (p.Arg272=) c.2741A>C (p.Gln914Pro) c.2481-2A>C (n.2481-2A>C) c.3172A>C (p.Arg1058=) c.3109A>C (p.Arg1037=) n.2143A>C c.3178A>C (p.Arg1060=) | |
| 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.6467896G>A | CA338113780 | PLEKHG5 | c.2940C>T (p.His980=) c.3114C>T (p.His1038=) c.3051C>T (p.His1017=) n.3416C>T c.3147C>T (p.His1049=) c.3237C>T (p.His1079=) c.*3152C>T (n.*3152C>T) c.2250-3C>T (n.2250-3C>T) c.*2768C>T (n.*2768C>T) c.813C>T (p.His271=) c.2740C>T (p.Gln914Ter) c.2481-3C>T (n.2481-3C>T) c.3171C>T (p.His1057=) c.3108C>T (p.His1036=) n.2142C>T c.3177C>T (p.His1059=) | |
| 1 | g.6467896G>C | CA338113782 | PLEKHG5 | c.2940C>G (p.His980Gln) c.3114C>G (p.His1038Gln) c.3051C>G (p.His1017Gln) n.3416C>G c.3147C>G (p.His1049Gln) c.3237C>G (p.His1079Gln) c.*3152C>G (n.*3152C>G) c.2250-3C>G (n.2250-3C>G) c.*2768C>G (n.*2768C>G) c.813C>G (p.His271Gln) c.2740C>G (p.Gln914Glu) c.2481-3C>G (n.2481-3C>G) c.3171C>G (p.His1057Gln) c.3108C>G (p.His1036Gln) n.2142C>G c.3177C>G (p.His1059Gln) | |
| 1 | g.6467896G>T | CA338113781 | PLEKHG5 | c.2940C>A (p.His980Gln) c.3114C>A (p.His1038Gln) c.3051C>A (p.His1017Gln) n.3416C>A c.3147C>A (p.His1049Gln) c.3237C>A (p.His1079Gln) c.*3152C>A (n.*3152C>A) c.2250-3C>A (n.2250-3C>A) c.*2768C>A (n.*2768C>A) c.813C>A (p.His271Gln) c.2740C>A (p.Gln914Lys) c.2481-3C>A (n.2481-3C>A) c.3171C>A (p.His1057Gln) c.3108C>A (p.His1036Gln) n.2142C>A c.3177C>A (p.His1059Gln) | |
| 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.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 |