Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.6467888A>CCA338113715PLEKHG5c.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)
1g.6467888A>GCA338113719PLEKHG5c.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)
1g.6467888A>TCA338113722PLEKHG5c.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)
1g.6467889G>ACA338113727PLEKHG5c.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=)
1g.6467889G>CCA338113726PLEKHG5c.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)
1g.6467889G>TCA338113724PLEKHG5c.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)
1g.6467890C>ACA338113730PLEKHG5c.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
1g.6467890C=CA1151516399PLEKHG5c.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=)
1g.6467890C>GCA338113733PLEKHG5c.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)
1g.6467890C>TCA338113736PLEKHG5c.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
1g.6467891T>ACA338113739PLEKHG5c.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)
1g.6467891T>CCA338113742PLEKHG5c.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
1g.6467891T>GCA338113747PLEKHG5c.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)
1g.6467891T=CA1151516406PLEKHG5c.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=)
1g.6467892delCA2740090570PLEKHG5c.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
1g.6467892T>ACA338113749PLEKHG5c.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)
1g.6467892T>CCA561060PLEKHG5c.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
1g.6467892T>GCA338113754PLEKHG5c.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)
1g.6467892T=CA1151516412PLEKHG5c.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=)
1g.6467893C>ACA338113756PLEKHG5c.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)
1g.6467893C>GCA338113761PLEKHG5c.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)
1g.6467893C>TCA338113763PLEKHG5c.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=)
1g.6467894C>ACA338113772PLEKHG5c.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
1g.6467894C=CA1151516417PLEKHG5c.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=)
1g.6467894C>GCA338113769PLEKHG5c.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)
1g.6467894C>TCA338113767PLEKHG5c.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
1g.6467894_6467896delinsCTGCA1151516419PLEKHG5c.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=)
1g.6467895T>ACA338113774PLEKHG5c.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)
1g.6467895T>CCA338113779PLEKHG5c.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)
1g.6467895T>GCA338113776PLEKHG5c.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=)
1g.6467897_6467898delCA1151516436PLEKHG5c.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)
1g.6467896G>ACA338113780PLEKHG5c.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=)
1g.6467896G>CCA338113782PLEKHG5c.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)
1g.6467896G>TCA338113781PLEKHG5c.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)
1g.6467897T>ACA338113787PLEKHG5c.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)
1g.6467897T>CCA338113790PLEKHG5c.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
1g.6467897T>GCA338113793PLEKHG5c.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)
1g.6467898G>ACA338113801PLEKHG5c.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)
1g.6467898G>CCA338113805PLEKHG5c.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)
1g.6467898G>TCA338113806PLEKHG5c.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)
1g.6467899C>ACA338113807PLEKHG5c.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)
1g.6467899C>GCA338113808PLEKHG5c.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)
1g.6467899C>TCA338113809PLEKHG5c.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
1g.6467900T>ACA338113811PLEKHG5c.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)
1g.6467900T>CCA338113814PLEKHG5c.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)
1g.6467900T>GCA338113820PLEKHG5c.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)
1g.6467901G>ACA338113840PLEKHG5c.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)
1g.6467901G>CCA338113846PLEKHG5c.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)
1g.6467901G>TCA338113841PLEKHG5c.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
1g.6467902G>ACA416021990PLEKHG5c.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
1g.6467902G>CCA416021991PLEKHG5c.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=)
1g.6467902G>TCA416021989PLEKHG5c.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=)
1g.6467903G>ACA17233211PLEKHG5c.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
1g.6467903G>CCA338113860PLEKHG5c.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)
1g.6467903G=CA1142344990PLEKHG5c.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=)
1g.6467903G>TCA338113862PLEKHG5c.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
1g.6467904C>ACA338113864PLEKHG5c.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
1g.6467904C=CA1143627610PLEKHG5c.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=)
1g.6467904C>GCA561061PLEKHG5c.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
1g.6467904C>TCA561062PLEKHG5c.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
1g.6467905A>CCA416021994PLEKHG5c.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=)
1g.6467905A>GCA416021992PLEKHG5c.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=)
1g.6467905A>TCA416021993PLEKHG5c.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=)
1g.6467906G>ACA338113866PLEKHG5c.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)
1g.6467906G>CCA338113869PLEKHG5c.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)
1g.6467906G>TCA338113873PLEKHG5c.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)
1g.6467907A=CA1151516460PLEKHG5c.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=)
1g.6467907A>CCA338113889PLEKHG5c.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)
1g.6467907A>GCA338113892PLEKHG5c.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
1g.6467907A>TCA338113880PLEKHG5c.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)
1g.6467908G>ACA416021995PLEKHG5c.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=)
1g.6467908G>CCA416021997PLEKHG5c.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=)
1g.6467908G>TCA416021996PLEKHG5c.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=)
1g.6467909delCA2642996096PLEKHG5c.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
1g.6467909A>CCA338113895PLEKHG5c.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)
1g.6467909A>GCA338113899PLEKHG5c.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)
1g.6467909A>TCA338113901PLEKHG5c.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)
1g.6467909_6467910delinsACCA1151516466PLEKHG5c.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=)
1g.6467910C>ACA338113910PLEKHG5c.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
1g.6467910C=CA1151516470PLEKHG5c.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=)
1g.6467910C>GCA338113915PLEKHG5c.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)
1g.6467910C>TCA338113919PLEKHG5c.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)
1g.6467913delCA521018444PLEKHG5c.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
1g.6467914_6467949delCA2642996097PLEKHG5c.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
1g.6467911C>ACA561063PLEKHG5c.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
1g.6467911C=CA1144722627PLEKHG5c.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=)
1g.6467911C>GCA416021998PLEKHG5c.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=)
1g.6467911C>TCA416021999PLEKHG5c.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
1g.6467912C>ACA338113928PLEKHG5c.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
1g.6467912C=CA1151516476PLEKHG5c.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=)
1g.6467912C>GCA338113931PLEKHG5c.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)
1g.6467912C>TCA17233257PLEKHG5c.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
1g.6467913C>ACA338113936PLEKHG5c.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
1g.6467913C=CA1151516482PLEKHG5c.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=)
1g.6467913C>GCA561064PLEKHG5c.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
1g.6467913C>TCA338113941PLEKHG5c.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
1g.6467914T>ACA416022000PLEKHG5c.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=)
1g.6467914T>CCA416022001PLEKHG5c.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
1g.6467914T>GCA416022002PLEKHG5c.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=)
1g.6467914_6467924delCA2642996098PLEKHG5c.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
1g.6467915G>ACA338113942PLEKHG5c.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)
1g.6467915G>CCA338113947PLEKHG5c.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)
1g.6467915G>TCA338113943PLEKHG5c.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)
1g.6467916G>ACA561065PLEKHG5c.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
1g.6467916G>CCA338113964PLEKHG5c.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)
1g.6467916G=CA1151516487PLEKHG5c.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=)
1g.6467916G>TCA338113969PLEKHG5c.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)
1g.6467917delCA2642996099PLEKHG5c.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
1g.6467917T>ACA416022003PLEKHG5c.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=)
1g.6467917T>CCA416022004PLEKHG5c.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=)
1g.6467917T>GCA416022005PLEKHG5c.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=)
1g.6467918G>ACA338113975PLEKHG5c.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)
1g.6467918G>CCA338113979PLEKHG5c.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
1g.6467918G=CA1151516493PLEKHG5c.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=)
1g.6467918G>TCA338113985PLEKHG5c.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
1g.6467922dupCA2642996100PLEKHG5c.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
1g.6467919G>ACA338113988PLEKHG5c.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)
1g.6467919G>CCA338113989PLEKHG5c.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)
1g.6467919G>TCA338113990PLEKHG5c.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
1g.6467920G>ACA416022006PLEKHG5c.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
1g.6467920G>CCA17233287PLEKHG5c.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
1g.6467920G=CA1151516500PLEKHG5c.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=)
1g.6467920G>TCA416022007PLEKHG5c.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
1g.6467920_6467943delinsGGGCTCAGGCTGGACCCTGGGAGACA1151516504PLEKHG5c.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=)
1g.6467921G>ACA338113991PLEKHG5c.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
1g.6467921G>CCA17233288PLEKHG5c.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
1g.6467921G=CA1151516516PLEKHG5c.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=)
1g.6467921G>TCA561066PLEKHG5c.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
1g.6467924_6467946delCA1151516511PLEKHG5c.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
1g.6467922G>ACA338114009PLEKHG5c.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
1g.6467922G>CCA338114006PLEKHG5c.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)
1g.6467922G=CA1151516526PLEKHG5c.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=)
1g.6467922G>TCA338114004PLEKHG5c.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
1g.6467923C>ACA338114031PLEKHG5c.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
1g.6467923C=CA1151516532PLEKHG5c.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=)
1g.6467923C>GCA338114012PLEKHG5c.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
1g.6467923C>TCA416022009PLEKHG5c.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=)
1g.6467924T>ACA338114032PLEKHG5c.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)
1g.6467924T>CCA338114033PLEKHG5c.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)
1g.6467924T>GCA338114034PLEKHG5c.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)
1g.6467925C>ACA338114039PLEKHG5c.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)
1g.6467925C>GCA338114046PLEKHG5c.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)
1g.6467925C>TCA338114048PLEKHG5c.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
1g.6467926A>CCA416022014PLEKHG5c.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=)
1g.6467926A>GCA416022016PLEKHG5c.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=)
1g.6467926A>TCA416022015PLEKHG5c.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=)
1g.6467927G>ACA338114058PLEKHG5c.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)
1g.6467927G>CCA338114052PLEKHG5c.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)
1g.6467927G>TCA338114055PLEKHG5c.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)
1g.6467928G>ACA561067PLEKHG5c.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
1g.6467928G>CCA338114062PLEKHG5c.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)
1g.6467928G=CA1143900328PLEKHG5c.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=)
1g.6467928G>TCA338114066PLEKHG5c.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)
1g.6467929C>ACA338114067PLEKHG5c.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
1g.6467929C>GCA338114070PLEKHG5c.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)
1g.6467929C>TCA416022020PLEKHG5c.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=)
1g.6467930T>ACA338114085PLEKHG5c.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)
1g.6467930T>CCA338114104PLEKHG5c.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)
1g.6467930T>GCA338114099PLEKHG5c.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)
1g.6467931G>ACA338114108PLEKHG5c.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
1g.6467931G>CCA338114115PLEKHG5c.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)
1g.6467931G=CA1151516539PLEKHG5c.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=)
1g.6467931G>TCA338114120PLEKHG5c.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)
1g.6467932G>ACA416022026PLEKHG5c.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=)
1g.6467932G>CCA416022024PLEKHG5c.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=)
1g.6467932G>TCA416022025PLEKHG5c.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=)
1g.6467933A>CCA338114123PLEKHG5c.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)
1g.6467933A>GCA338114125PLEKHG5c.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)
1g.6467933A>TCA338114129PLEKHG5c.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)
1g.6467933_6467934delinsACCA1151516541PLEKHG5c.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=)
1g.6467934C>ACA338114136PLEKHG5c.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)
1g.6467934C=CA1151516546PLEKHG5c.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=)
1g.6467934C>GCA338114139PLEKHG5c.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)
1g.6467934C>TCA338114142PLEKHG5c.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
1g.6467936delCA561068PLEKHG5c.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
1g.6467935C>ACA338114149PLEKHG5c.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
1g.6467935C=CA1151516551PLEKHG5c.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=)
1g.6467935C>GCA338114152PLEKHG5c.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)
1g.6467935C>TCA416022030PLEKHG5c.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
1g.6467936C>ACA561070PLEKHG5c.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
1g.6467936C=CA1144137447PLEKHG5c.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=)
1g.6467936C>GCA561069PLEKHG5c.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
1g.6467936C>TCA338114162PLEKHG5c.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)
1g.6467937T>ACA338114163PLEKHG5c.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)
1g.6467937T>CCA338114164PLEKHG5c.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
1g.6467937T>GCA416022034PLEKHG5c.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=)
1g.6467937T=CA1151516573PLEKHG5c.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=)
1g.6467938G>ACA416022035PLEKHG5c.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
1g.6467938G>CCA416022036PLEKHG5c.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=)
1g.6467938G>TCA416022037PLEKHG5c.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
1g.6467940dupCA2642996101PLEKHG5c.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
1g.6467939G>ACA561071PLEKHG5c.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
1g.6467939G>CCA338114174PLEKHG5c.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)
1g.6467939G=CA1148258913PLEKHG5c.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=)
1g.6467939G>TCA338114177PLEKHG5c.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)
1g.6467940G>ACA17233326PLEKHG5c.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
1g.6467940G>CCA338114183PLEKHG5c.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)
1g.6467940G=CA1145072000PLEKHG5c.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=)
1g.6467940G>TCA338114187PLEKHG5c.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)
1g.6467941A>CCA416022040PLEKHG5c.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=)
1g.6467941A>GCA416022041PLEKHG5c.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=)
1g.6467941A>TCA416022042PLEKHG5c.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=)
1g.6467942G>ACA338114196PLEKHG5c.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
1g.6467942G>CCA338114203PLEKHG5c.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)
1g.6467942G=CA1151516582PLEKHG5c.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=)
1g.6467942G>TCA338114206PLEKHG5c.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)
1g.6467943A>CCA338114219PLEKHG5c.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)
1g.6467943A>GCA338114216PLEKHG5c.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)
1g.6467943A>TCA338114211PLEKHG5c.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)
1g.6467944G>ACA416022046PLEKHG5c.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
1g.6467944G>CCA416022047PLEKHG5c.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
1g.6467944G=CA1151516594PLEKHG5c.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=)
1g.6467944G>TCA416022048PLEKHG5c.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=)
1g.6467945G>ACA338114222PLEKHG5c.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
1g.6467945G>CCA338114223PLEKHG5c.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)
1g.6467945G>TCA338114225PLEKHG5c.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)
1g.6467946C>ACA561072PLEKHG5c.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
1g.6467946C=CA1151516606PLEKHG5c.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=)
1g.6467946C>GCA338114230PLEKHG5c.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
1g.6467946C>TCA338114233PLEKHG5c.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
1g.6467950delCA2642996102PLEKHG5c.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
1g.6467947C>ACA416022049PLEKHG5c.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=)
1g.6467947C=CA1151516613PLEKHG5c.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=)
1g.6467947C>GCA416022050PLEKHG5c.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=)
1g.6467947C>TCA416022051PLEKHG5c.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
1g.6467948C>ACA338114235PLEKHG5c.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)
1g.6467948C>GCA338114237PLEKHG5c.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)
1g.6467948C>TCA338114240PLEKHG5c.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
1g.6467949C>ACA561073PLEKHG5c.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
1g.6467949C=CA1151516623PLEKHG5c.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=)
1g.6467949C>GCA338114244PLEKHG5c.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)
1g.6467949C>TCA338114247PLEKHG5c.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
1g.6467950C>ACA416022054PLEKHG5c.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
1g.6467950C=CA1149058353PLEKHG5c.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=)
1g.6467950C>GCA416022055PLEKHG5c.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
1g.6467950C>TCA561074PLEKHG5c.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
1g.6467951G>ACA561075PLEKHG5c.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
1g.6467951G>CCA338114254PLEKHG5c.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)
1g.6467951G=CA1143663179PLEKHG5c.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=)
1g.6467951G>TCA338114248PLEKHG5c.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
1g.6467952A>CCA338114271PLEKHG5c.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)
1g.6467952A>GCA338114275PLEKHG5c.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
1g.6467952A>TCA338114284PLEKHG5c.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)
1g.6467953G>ACA416022059PLEKHG5c.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
1g.6467953G>CCA416022060PLEKHG5c.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=)
1g.6467953G>TCA416022061PLEKHG5c.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
1g.6467954G>ACA338114288PLEKHG5c.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)
1g.6467954G>CCA338114290PLEKHG5c.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)
1g.6467954G>TCA338114293PLEKHG5c.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)
1g.6467955G>ACA338114295PLEKHG5c.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)
1g.6467955G>CCA338114298PLEKHG5c.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)
1g.6467955G>TCA338114300PLEKHG5c.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
1g.6467955_6467956delCA2740090571PLEKHG5c.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
1g.6467956C>ACA416022062PLEKHG5c.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
1g.6467956C=CA1151516641PLEKHG5c.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=)
1g.6467956C>GCA416022063PLEKHG5c.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=)
1g.6467956C>TCA416022064PLEKHG5c.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
1g.6467957A=CA1151516644PLEKHG5c.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=)
1g.6467957A>CCA338114302PLEKHG5c.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
1g.6467957A>GCA338114305PLEKHG5c.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
1g.6467957A>TCA338114308PLEKHG5c.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)
1g.6467958G>ACA416022065PLEKHG5c.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=)
1g.6467958G>CCA338114311PLEKHG5c.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
1g.6467958G>TCA338114317PLEKHG5c.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)
1g.6467959G>ACA416022066PLEKHG5c.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
1g.6467959G>CCA338114324PLEKHG5c.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)
1g.6467959G>TCA338114320PLEKHG5c.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)
1g.6467960T>ACA338114329PLEKHG5c.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)
1g.6467960T>CCA338114333PLEKHG5c.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)
1g.6467960T>GCA338114335PLEKHG5c.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)
1g.6467961C>ACA338114340PLEKHG5c.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)
1g.6467961C=CA1151516649PLEKHG5c.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=)
1g.6467961C>GCA17233333PLEKHG5c.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
1g.6467961C>TCA338114344PLEKHG5c.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
1g.6467962T>ACA416022070PLEKHG5c.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=)
1g.6467962T>CCA416022071PLEKHG5c.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=)
1g.6467962T>GCA416022072PLEKHG5c.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=)
1g.6467963C>ACA338114354PLEKHG5c.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)
1g.6467963C>GCA338114349PLEKHG5c.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)
1g.6467963C>TCA338114351PLEKHG5c.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
1g.6467964C>ACA338114358PLEKHG5c.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)
1g.6467964C>GCA338114362PLEKHG5c.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)
1g.6467964C>TCA338114364PLEKHG5c.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
1g.6467965A>CCA338114366PLEKHG5c.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)
1g.6467965A>GCA416022074PLEKHG5c.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=)
1g.6467965A>TCA338114369PLEKHG5c.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)
1g.6467966C>ACA338114377PLEKHG5c.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)
1g.6467966C>GCA338114372PLEKHG5c.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)
1g.6467966C>TCA338114375PLEKHG5c.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
1g.6467967A=CA1151516650PLEKHG5c.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=)
1g.6467967A>CCA338114382PLEKHG5c.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
1g.6467967A>GCA338114384PLEKHG5c.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
1g.6467967A>TCA338114385PLEKHG5c.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)
1g.6467968C>ACA338114388PLEKHG5c.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)
1g.6467968C=CA1151516655PLEKHG5c.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=)
1g.6467968C>GCA338114390PLEKHG5c.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
1g.6467968C>TCA416022078PLEKHG5c.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
1g.6467969C>ACA338114394PLEKHG5c.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
1g.6467969C=CA1151516660PLEKHG5c.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=)
1g.6467969C>GCA338114397PLEKHG5c.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)
1g.6467969C>TCA241974PLEKHG5c.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
1g.6467970T>ACA338114402PLEKHG5c.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)
1g.6467970T>CCA338114404PLEKHG5c.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
1g.6467970T>GCA416022160PLEKHG5c.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=)
1g.6467970T=CA1151516668PLEKHG5c.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=)
1g.6467971C>ACA338114406PLEKHG5c.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)
1g.6467971C=CA1151516677PLEKHG5c.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=)
1g.6467971C>GCA561076PLEKHG5c.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
1g.6467971C>TCA416022161PLEKHG5c.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=)
1g.6467972T>ACA338114412PLEKHG5c.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
1g.6467972T>CCA561077PLEKHG5c.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
1g.6467972T>GCA338114409PLEKHG5c.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)
1g.6467972T=CA1151516690PLEKHG5c.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=)
1g.6467973T>ACA338114416PLEKHG5c.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)
1g.6467973T>CCA338114418PLEKHG5c.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)
1g.6467973T>GCA338114421PLEKHG5c.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)
1g.6467974C>ACA338114425PLEKHG5c.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
1g.6467974C>GCA338114436PLEKHG5c.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)
1g.6467974C>TCA416022167PLEKHG5c.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=)
1g.6467975C>ACA338114441PLEKHG5c.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
1g.6467975C>GCA338114444PLEKHG5c.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)
1g.6467975C>TCA338114447PLEKHG5c.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
1g.6467976T>ACA338114452PLEKHG5c.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)
1g.6467976T>CCA338114454PLEKHG5c.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
1g.6467976T>GCA416022172PLEKHG5c.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=)
1g.6467977G>ACA561078PLEKHG5c.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
1g.6467977G>CCA338114458PLEKHG5c.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)
1g.6467977G=CA1151516695PLEKHG5c.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=)
1g.6467977G>TCA338114461PLEKHG5c.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
1g.6467978T>ACA338114468PLEKHG5c.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)
1g.6467978T>CCA338114470PLEKHG5c.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)
1g.6467978T>GCA338114465PLEKHG5c.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)
1g.6467979G>ACA338114474PLEKHG5c.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
1g.6467979G>CCA338114480PLEKHG5c.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)
1g.6467979G>TCA338114477PLEKHG5c.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
1g.6467980G>ACA561079PLEKHG5c.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
1g.6467980G>CCA416022177PLEKHG5c.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
1g.6467980G=CA1151516706PLEKHG5c.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=)
1g.6467980G>TCA416022176PLEKHG5c.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
1g.6467981G>ACA338114484PLEKHG5c.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)
1g.6467981G>CCA338114485PLEKHG5c.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)
1g.6467981G>TCA338114486PLEKHG5c.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
1g.6467982A>CCA338114487PLEKHG5c.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)
1g.6467982A>GCA338114488PLEKHG5c.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)
1g.6467982A>TCA338114490PLEKHG5c.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)
1g.6467983G>ACA416022180PLEKHG5c.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=)
1g.6467983G>CCA416022181PLEKHG5c.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=)
1g.6467983G>TCA416022182PLEKHG5c.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
1g.6467984C>ACA338114494PLEKHG5c.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
1g.6467984C>GCA338114496PLEKHG5c.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)
1g.6467984C>TCA338114498PLEKHG5c.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
1g.6467985C>ACA338114505PLEKHG5c.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)
1g.6467985C>GCA338114504PLEKHG5c.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)
1g.6467985C>TCA338114502PLEKHG5c.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)
1g.6467986T>ACA416022187PLEKHG5c.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=)
1g.6467986T>CCA416022188PLEKHG5c.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
1g.6467986T>GCA416022189PLEKHG5c.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
1g.6467986T=CA1151516712PLEKHG5c.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=)
1g.6467987G>ACA338114506PLEKHG5c.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
1g.6467987G>CCA338114507PLEKHG5c.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)
1g.6467987G=CA1151516716PLEKHG5c.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=)
1g.6467987G>TCA338114509PLEKHG5c.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
1g.6467988C>ACA10584152PLEKHG5c.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
1g.6467988C=CA1151516729PLEKHG5c.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=)
1g.6467988C>GCA338114511PLEKHG5c.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)
1g.6467988C>TCA338114516PLEKHG5c.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

Number of alleles fetched