Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.150839879_150839881delinsCAGCA1672598738PLEKHG1c.3141_3143delinsCAG (p.Phe1047=)
c.1158-1156_1158-1154delinsCAG (n.1158-1156_1158-1154delinsCAG)
c.3318_3320delinsCAG (p.Phe1106=)
c.3357_3359delinsCAG (p.Phe1119=)
c.3261_3263delinsCAG (p.Phe1087=)
c.3102_3104delinsCAG (p.Phe1034=)
c.3024_3026delinsCAG (p.Phe1008=)
c.1617-1156_1617-1154delinsCAG (n.1617-1156_1617-1154delinsCAG)
6g.150839884_150839885delCA4048107PLEKHG1c.3146_3147del (p.Glu1049ValfsTer?)
c.1158-1151_1158-1150del (n.1158-1151_1158-1150del)
c.3323_3324del (p.Glu1108ValfsTer?)
c.3362_3363del (p.Glu1121ValfsTer?)
c.3266_3267del (p.Glu1089ValfsTer?)
c.3107_3108del (p.Glu1036ValfsTer?)
c.3029_3030del (p.Glu1010ValfsTer?)
c.1617-1151_1617-1150del (n.1617-1151_1617-1150del)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.150839881G>ACA366050574PLEKHG1c.3143G>A (p.Arg1048Lys)
c.1158-1154G>A (n.1158-1154G>A)
c.3320G>A (p.Arg1107Lys)
c.3359G>A (p.Arg1120Lys)
c.3263G>A (p.Arg1088Lys)
c.3104G>A (p.Arg1035Lys)
c.3026G>A (p.Arg1009Lys)
c.1617-1154G>A (n.1617-1154G>A)
 dbSNP gnomAD v3 gnomAD v4
6g.150839881G>CCA366050575PLEKHG1c.3143G>C (p.Arg1048Thr)
c.1158-1154G>C (n.1158-1154G>C)
c.3320G>C (p.Arg1107Thr)
c.3359G>C (p.Arg1120Thr)
c.3263G>C (p.Arg1088Thr)
c.3104G>C (p.Arg1035Thr)
c.3026G>C (p.Arg1009Thr)
c.1617-1154G>C (n.1617-1154G>C)
6g.150839881G=CA1672598739PLEKHG1c.3143G= (p.Arg1048=)
c.1158-1154G= (n.1158-1154G=)
c.3320G= (p.Arg1107=)
c.3359G= (p.Arg1120=)
c.3263G= (p.Arg1088=)
c.3104G= (p.Arg1035=)
c.3026G= (p.Arg1009=)
c.1617-1154G= (n.1617-1154G=)
6g.150839881G>TCA366050576PLEKHG1c.3143G>T (p.Arg1048Ile)
c.1158-1154G>T (n.1158-1154G>T)
c.3320G>T (p.Arg1107Ile)
c.3359G>T (p.Arg1120Ile)
c.3263G>T (p.Arg1088Ile)
c.3104G>T (p.Arg1035Ile)
c.3026G>T (p.Arg1009Ile)
c.1617-1154G>T (n.1617-1154G>T)
6g.150839882A=CA1672598740PLEKHG1c.3144A= (p.Arg1048=)
c.1158-1153A= (n.1158-1153A=)
c.3321A= (p.Arg1107=)
c.3360A= (p.Arg1120=)
c.3264A= (p.Arg1088=)
c.3105A= (p.Arg1035=)
c.3027A= (p.Arg1009=)
c.1617-1153A= (n.1617-1153A=)
6g.150839882A>CCA366050577PLEKHG1c.3144A>C (p.Arg1048Ser)
c.1158-1153A>C (n.1158-1153A>C)
c.3321A>C (p.Arg1107Ser)
c.3360A>C (p.Arg1120Ser)
c.3264A>C (p.Arg1088Ser)
c.3105A>C (p.Arg1035Ser)
c.3027A>C (p.Arg1009Ser)
c.1617-1153A>C (n.1617-1153A>C)
6g.150839882A>GCA4048108PLEKHG1c.3144A>G (p.Arg1048=)
c.1158-1153A>G (n.1158-1153A>G)
c.3321A>G (p.Arg1107=)
c.3360A>G (p.Arg1120=)
c.3264A>G (p.Arg1088=)
c.3105A>G (p.Arg1035=)
c.3027A>G (p.Arg1009=)
c.1617-1153A>G (n.1617-1153A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.150839882A>TCA366050578PLEKHG1c.3144A>T (p.Arg1048Ser)
c.1158-1153A>T (n.1158-1153A>T)
c.3321A>T (p.Arg1107Ser)
c.3360A>T (p.Arg1120Ser)
c.3264A>T (p.Arg1088Ser)
c.3105A>T (p.Arg1035Ser)
c.3027A>T (p.Arg1009Ser)
c.1617-1153A>T (n.1617-1153A>T)
6g.150839883G>ACA366050581PLEKHG1c.3145G>A (p.Glu1049Lys)
c.1158-1152G>A (n.1158-1152G>A)
c.3322G>A (p.Glu1108Lys)
c.3361G>A (p.Glu1121Lys)
c.3265G>A (p.Glu1089Lys)
c.3106G>A (p.Glu1036Lys)
c.3028G>A (p.Glu1010Lys)
c.1617-1152G>A (n.1617-1152G>A)
6g.150839883G>CCA366050580PLEKHG1c.3145G>C (p.Glu1049Gln)
c.1158-1152G>C (n.1158-1152G>C)
c.3322G>C (p.Glu1108Gln)
c.3361G>C (p.Glu1121Gln)
c.3265G>C (p.Glu1089Gln)
c.3106G>C (p.Glu1036Gln)
c.3028G>C (p.Glu1010Gln)
c.1617-1152G>C (n.1617-1152G>C)
 dbSNP gnomAD v2 gnomAD v4
6g.150839883G=CA1672598741PLEKHG1c.3145G= (p.Glu1049=)
c.1158-1152G= (n.1158-1152G=)
c.3322G= (p.Glu1108=)
c.3361G= (p.Glu1121=)
c.3265G= (p.Glu1089=)
c.3106G= (p.Glu1036=)
c.3028G= (p.Glu1010=)
c.1617-1152G= (n.1617-1152G=)
6g.150839883G>TCA366050579PLEKHG1c.3145G>T (p.Glu1049Ter)
c.1158-1152G>T (n.1158-1152G>T)
c.3322G>T (p.Glu1108Ter)
c.3361G>T (p.Glu1121Ter)
c.3265G>T (p.Glu1089Ter)
c.3106G>T (p.Glu1036Ter)
c.3028G>T (p.Glu1010Ter)
c.1617-1152G>T (n.1617-1152G>T)
6g.150839884A>CCA366050582PLEKHG1c.3146A>C (p.Glu1049Ala)
c.1158-1151A>C (n.1158-1151A>C)
c.3323A>C (p.Glu1108Ala)
c.3362A>C (p.Glu1121Ala)
c.3266A>C (p.Glu1089Ala)
c.3107A>C (p.Glu1036Ala)
c.3029A>C (p.Glu1010Ala)
c.1617-1151A>C (n.1617-1151A>C)
6g.150839884A>GCA366050584PLEKHG1c.3146A>G (p.Glu1049Gly)
c.1158-1151A>G (n.1158-1151A>G)
c.3323A>G (p.Glu1108Gly)
c.3362A>G (p.Glu1121Gly)
c.3266A>G (p.Glu1089Gly)
c.3107A>G (p.Glu1036Gly)
c.3029A>G (p.Glu1010Gly)
c.1617-1151A>G (n.1617-1151A>G)
6g.150839884A>TCA366050583PLEKHG1c.3146A>T (p.Glu1049Val)
c.1158-1151A>T (n.1158-1151A>T)
c.3323A>T (p.Glu1108Val)
c.3362A>T (p.Glu1121Val)
c.3266A>T (p.Glu1089Val)
c.3107A>T (p.Glu1036Val)
c.3029A>T (p.Glu1010Val)
c.1617-1151A>T (n.1617-1151A>T)
6g.150839885G>ACA452725542PLEKHG1c.3147G>A (p.Glu1049=)
c.1158-1150G>A (n.1158-1150G>A)
c.3324G>A (p.Glu1108=)
c.3363G>A (p.Glu1121=)
c.3267G>A (p.Glu1089=)
c.3108G>A (p.Glu1036=)
c.3030G>A (p.Glu1010=)
c.1617-1150G>A (n.1617-1150G>A)
6g.150839885G>CCA366050585PLEKHG1c.3147G>C (p.Glu1049Asp)
c.1158-1150G>C (n.1158-1150G>C)
c.3324G>C (p.Glu1108Asp)
c.3363G>C (p.Glu1121Asp)
c.3267G>C (p.Glu1089Asp)
c.3108G>C (p.Glu1036Asp)
c.3030G>C (p.Glu1010Asp)
c.1617-1150G>C (n.1617-1150G>C)
6g.150839885G>TCA366050586PLEKHG1c.3147G>T (p.Glu1049Asp)
c.1158-1150G>T (n.1158-1150G>T)
c.3324G>T (p.Glu1108Asp)
c.3363G>T (p.Glu1121Asp)
c.3267G>T (p.Glu1089Asp)
c.3108G>T (p.Glu1036Asp)
c.3030G>T (p.Glu1010Asp)
c.1617-1150G>T (n.1617-1150G>T)
6g.150839886T>ACA366050587PLEKHG1c.3148T>A (p.Ser1050Thr)
c.1158-1149T>A (n.1158-1149T>A)
c.3325T>A (p.Ser1109Thr)
c.3364T>A (p.Ser1122Thr)
c.3268T>A (p.Ser1090Thr)
c.3109T>A (p.Ser1037Thr)
c.3031T>A (p.Ser1011Thr)
c.1617-1149T>A (n.1617-1149T>A)
6g.150839886T>CCA366050588PLEKHG1c.3148T>C (p.Ser1050Pro)
c.1158-1149T>C (n.1158-1149T>C)
c.3325T>C (p.Ser1109Pro)
c.3364T>C (p.Ser1122Pro)
c.3268T>C (p.Ser1090Pro)
c.3109T>C (p.Ser1037Pro)
c.3031T>C (p.Ser1011Pro)
c.1617-1149T>C (n.1617-1149T>C)
6g.150839886T>GCA366050589PLEKHG1c.3148T>G (p.Ser1050Ala)
c.1158-1149T>G (n.1158-1149T>G)
c.3325T>G (p.Ser1109Ala)
c.3364T>G (p.Ser1122Ala)
c.3268T>G (p.Ser1090Ala)
c.3109T>G (p.Ser1037Ala)
c.3031T>G (p.Ser1011Ala)
c.1617-1149T>G (n.1617-1149T>G)
6g.150839887C>ACA366050590PLEKHG1c.3149C>A (p.Ser1050Tyr)
c.1158-1148C>A (n.1158-1148C>A)
c.3326C>A (p.Ser1109Tyr)
c.3365C>A (p.Ser1122Tyr)
c.3269C>A (p.Ser1090Tyr)
c.3110C>A (p.Ser1037Tyr)
c.3032C>A (p.Ser1011Tyr)
c.1617-1148C>A (n.1617-1148C>A)
6g.150839887C>GCA366050591PLEKHG1c.3149C>G (p.Ser1050Cys)
c.1158-1148C>G (n.1158-1148C>G)
c.3326C>G (p.Ser1109Cys)
c.3365C>G (p.Ser1122Cys)
c.3269C>G (p.Ser1090Cys)
c.3110C>G (p.Ser1037Cys)
c.3032C>G (p.Ser1011Cys)
c.1617-1148C>G (n.1617-1148C>G)
6g.150839887C>TCA366050592PLEKHG1c.3149C>T (p.Ser1050Phe)
c.1158-1148C>T (n.1158-1148C>T)
c.3326C>T (p.Ser1109Phe)
c.3365C>T (p.Ser1122Phe)
c.3269C>T (p.Ser1090Phe)
c.3110C>T (p.Ser1037Phe)
c.3032C>T (p.Ser1011Phe)
c.1617-1148C>T (n.1617-1148C>T)
 gnomAD v4
6g.150839888T>ACA452725544PLEKHG1c.3150T>A (p.Ser1050=)
c.1158-1147T>A (n.1158-1147T>A)
c.3327T>A (p.Ser1109=)
c.3366T>A (p.Ser1122=)
c.3270T>A (p.Ser1090=)
c.3111T>A (p.Ser1037=)
c.3033T>A (p.Ser1011=)
c.1617-1147T>A (n.1617-1147T>A)
6g.150839888T>CCA452725547PLEKHG1c.3150T>C (p.Ser1050=)
c.1158-1147T>C (n.1158-1147T>C)
c.3327T>C (p.Ser1109=)
c.3366T>C (p.Ser1122=)
c.3270T>C (p.Ser1090=)
c.3111T>C (p.Ser1037=)
c.3033T>C (p.Ser1011=)
c.1617-1147T>C (n.1617-1147T>C)
6g.150839888T>GCA452725545PLEKHG1c.3150T>G (p.Ser1050=)
c.1158-1147T>G (n.1158-1147T>G)
c.3327T>G (p.Ser1109=)
c.3366T>G (p.Ser1122=)
c.3270T>G (p.Ser1090=)
c.3111T>G (p.Ser1037=)
c.3033T>G (p.Ser1011=)
c.1617-1147T>G (n.1617-1147T>G)
6g.150839889C>ACA366050593PLEKHG1c.3151C>A (p.Pro1051Thr)
c.1158-1146C>A (n.1158-1146C>A)
c.3328C>A (p.Pro1110Thr)
c.3367C>A (p.Pro1123Thr)
c.3271C>A (p.Pro1091Thr)
c.3112C>A (p.Pro1038Thr)
c.3034C>A (p.Pro1012Thr)
c.1617-1146C>A (n.1617-1146C>A)
 gnomAD v4
6g.150839889C=CA1672598742PLEKHG1c.3151C= (p.Pro1051=)
c.1158-1146C= (n.1158-1146C=)
c.3328C= (p.Pro1110=)
c.3367C= (p.Pro1123=)
c.3271C= (p.Pro1091=)
c.3112C= (p.Pro1038=)
c.3034C= (p.Pro1012=)
c.1617-1146C= (n.1617-1146C=)
6g.150839889C>GCA366050594PLEKHG1c.3151C>G (p.Pro1051Ala)
c.1158-1146C>G (n.1158-1146C>G)
c.3328C>G (p.Pro1110Ala)
c.3367C>G (p.Pro1123Ala)
c.3271C>G (p.Pro1091Ala)
c.3112C>G (p.Pro1038Ala)
c.3034C>G (p.Pro1012Ala)
c.1617-1146C>G (n.1617-1146C>G)
6g.150839889C>TCA4048109PLEKHG1c.3151C>T (p.Pro1051Ser)
c.1158-1146C>T (n.1158-1146C>T)
c.3328C>T (p.Pro1110Ser)
c.3367C>T (p.Pro1123Ser)
c.3271C>T (p.Pro1091Ser)
c.3112C>T (p.Pro1038Ser)
c.3034C>T (p.Pro1012Ser)
c.1617-1146C>T (n.1617-1146C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.150839890C>ACA366050597PLEKHG1c.3152C>A (p.Pro1051His)
c.1158-1145C>A (n.1158-1145C>A)
c.3329C>A (p.Pro1110His)
c.3368C>A (p.Pro1123His)
c.3272C>A (p.Pro1091His)
c.3113C>A (p.Pro1038His)
c.3035C>A (p.Pro1012His)
c.1617-1145C>A (n.1617-1145C>A)
6g.150839890C>GCA366050596PLEKHG1c.3152C>G (p.Pro1051Arg)
c.1158-1145C>G (n.1158-1145C>G)
c.3329C>G (p.Pro1110Arg)
c.3368C>G (p.Pro1123Arg)
c.3272C>G (p.Pro1091Arg)
c.3113C>G (p.Pro1038Arg)
c.3035C>G (p.Pro1012Arg)
c.1617-1145C>G (n.1617-1145C>G)
6g.150839890C>TCA366050595PLEKHG1c.3152C>T (p.Pro1051Leu)
c.1158-1145C>T (n.1158-1145C>T)
c.3329C>T (p.Pro1110Leu)
c.3368C>T (p.Pro1123Leu)
c.3272C>T (p.Pro1091Leu)
c.3113C>T (p.Pro1038Leu)
c.3035C>T (p.Pro1012Leu)
c.1617-1145C>T (n.1617-1145C>T)
6g.150839891C>ACA452725557PLEKHG1c.3153C>A (p.Pro1051=)
c.1158-1144C>A (n.1158-1144C>A)
c.3330C>A (p.Pro1110=)
c.3369C>A (p.Pro1123=)
c.3273C>A (p.Pro1091=)
c.3114C>A (p.Pro1038=)
c.3036C>A (p.Pro1012=)
c.1617-1144C>A (n.1617-1144C>A)
6g.150839891C>GCA452725559PLEKHG1c.3153C>G (p.Pro1051=)
c.1158-1144C>G (n.1158-1144C>G)
c.3330C>G (p.Pro1110=)
c.3369C>G (p.Pro1123=)
c.3273C>G (p.Pro1091=)
c.3114C>G (p.Pro1038=)
c.3036C>G (p.Pro1012=)
c.1617-1144C>G (n.1617-1144C>G)
6g.150839891C>TCA452725560PLEKHG1c.3153C>T (p.Pro1051=)
c.1158-1144C>T (n.1158-1144C>T)
c.3330C>T (p.Pro1110=)
c.3369C>T (p.Pro1123=)
c.3273C>T (p.Pro1091=)
c.3114C>T (p.Pro1038=)
c.3036C>T (p.Pro1012=)
c.1617-1144C>T (n.1617-1144C>T)
6g.150839892T>ACA366050598PLEKHG1c.3154T>A (p.Leu1052Met)
c.1158-1143T>A (n.1158-1143T>A)
c.3331T>A (p.Leu1111Met)
c.3370T>A (p.Leu1124Met)
c.3274T>A (p.Leu1092Met)
c.3115T>A (p.Leu1039Met)
c.3037T>A (p.Leu1013Met)
c.1617-1143T>A (n.1617-1143T>A)
6g.150839892T>CCA452725562PLEKHG1c.3154T>C (p.Leu1052=)
c.1158-1143T>C (n.1158-1143T>C)
c.3331T>C (p.Leu1111=)
c.3370T>C (p.Leu1124=)
c.3274T>C (p.Leu1092=)
c.3115T>C (p.Leu1039=)
c.3037T>C (p.Leu1013=)
c.1617-1143T>C (n.1617-1143T>C)
 dbSNP gnomAD v3 gnomAD v4
6g.150839892T>GCA366050599PLEKHG1c.3154T>G (p.Leu1052Val)
c.1158-1143T>G (n.1158-1143T>G)
c.3331T>G (p.Leu1111Val)
c.3370T>G (p.Leu1124Val)
c.3274T>G (p.Leu1092Val)
c.3115T>G (p.Leu1039Val)
c.3037T>G (p.Leu1013Val)
c.1617-1143T>G (n.1617-1143T>G)
6g.150839892T=CA1672598743PLEKHG1c.3154T= (p.Leu1052=)
c.1158-1143T= (n.1158-1143T=)
c.3331T= (p.Leu1111=)
c.3370T= (p.Leu1124=)
c.3274T= (p.Leu1092=)
c.3115T= (p.Leu1039=)
c.3037T= (p.Leu1013=)
c.1617-1143T= (n.1617-1143T=)
6g.150839893T>ACA366050600PLEKHG1c.3155T>A (p.Leu1052Ter)
c.1158-1142T>A (n.1158-1142T>A)
c.3332T>A (p.Leu1111Ter)
c.3371T>A (p.Leu1124Ter)
c.3275T>A (p.Leu1092Ter)
c.3116T>A (p.Leu1039Ter)
c.3038T>A (p.Leu1013Ter)
c.1617-1142T>A (n.1617-1142T>A)
6g.150839893T>CCA366050601PLEKHG1c.3155T>C (p.Leu1052Ser)
c.1158-1142T>C (n.1158-1142T>C)
c.3332T>C (p.Leu1111Ser)
c.3371T>C (p.Leu1124Ser)
c.3275T>C (p.Leu1092Ser)
c.3116T>C (p.Leu1039Ser)
c.3038T>C (p.Leu1013Ser)
c.1617-1142T>C (n.1617-1142T>C)
6g.150839893T>GCA366050602PLEKHG1c.3155T>G (p.Leu1052Trp)
c.1158-1142T>G (n.1158-1142T>G)
c.3332T>G (p.Leu1111Trp)
c.3371T>G (p.Leu1124Trp)
c.3275T>G (p.Leu1092Trp)
c.3116T>G (p.Leu1039Trp)
c.3038T>G (p.Leu1013Trp)
c.1617-1142T>G (n.1617-1142T>G)
6g.150839894G>ACA452725567PLEKHG1c.3156G>A (p.Leu1052=)
c.1158-1141G>A (n.1158-1141G>A)
c.3333G>A (p.Leu1111=)
c.3372G>A (p.Leu1124=)
c.3276G>A (p.Leu1092=)
c.3117G>A (p.Leu1039=)
c.3039G>A (p.Leu1013=)
c.1617-1141G>A (n.1617-1141G>A)
6g.150839894G>CCA366050603PLEKHG1c.3156G>C (p.Leu1052Phe)
c.1158-1141G>C (n.1158-1141G>C)
c.3333G>C (p.Leu1111Phe)
c.3372G>C (p.Leu1124Phe)
c.3276G>C (p.Leu1092Phe)
c.3117G>C (p.Leu1039Phe)
c.3039G>C (p.Leu1013Phe)
c.1617-1141G>C (n.1617-1141G>C)
6g.150839894G>TCA366050604PLEKHG1c.3156G>T (p.Leu1052Phe)
c.1158-1141G>T (n.1158-1141G>T)
c.3333G>T (p.Leu1111Phe)
c.3372G>T (p.Leu1124Phe)
c.3276G>T (p.Leu1092Phe)
c.3117G>T (p.Leu1039Phe)
c.3039G>T (p.Leu1013Phe)
c.1617-1141G>T (n.1617-1141G>T)
6g.150839895A>CCA366050605PLEKHG1c.3157A>C (p.Lys1053Gln)
c.1158-1140A>C (n.1158-1140A>C)
c.3334A>C (p.Lys1112Gln)
c.3373A>C (p.Lys1125Gln)
c.3277A>C (p.Lys1093Gln)
c.3118A>C (p.Lys1040Gln)
c.3040A>C (p.Lys1014Gln)
c.1617-1140A>C (n.1617-1140A>C)
6g.150839895A>GCA366050606PLEKHG1c.3157A>G (p.Lys1053Glu)
c.1158-1140A>G (n.1158-1140A>G)
c.3334A>G (p.Lys1112Glu)
c.3373A>G (p.Lys1125Glu)
c.3277A>G (p.Lys1093Glu)
c.3118A>G (p.Lys1040Glu)
c.3040A>G (p.Lys1014Glu)
c.1617-1140A>G (n.1617-1140A>G)
6g.150839895A>TCA366050607PLEKHG1c.3157A>T (p.Lys1053Ter)
c.1158-1140A>T (n.1158-1140A>T)
c.3334A>T (p.Lys1112Ter)
c.3373A>T (p.Lys1125Ter)
c.3277A>T (p.Lys1093Ter)
c.3118A>T (p.Lys1040Ter)
c.3040A>T (p.Lys1014Ter)
c.1617-1140A>T (n.1617-1140A>T)
6g.150839896A=CA1672598744PLEKHG1c.3158A= (p.Lys1053=)
c.1158-1139A= (n.1158-1139A=)
c.3335A= (p.Lys1112=)
c.3374A= (p.Lys1125=)
c.3278A= (p.Lys1093=)
c.3119A= (p.Lys1040=)
c.3041A= (p.Lys1014=)
c.1617-1139A= (n.1617-1139A=)
6g.150839896A>CCA366050608PLEKHG1c.3158A>C (p.Lys1053Thr)
c.1158-1139A>C (n.1158-1139A>C)
c.3335A>C (p.Lys1112Thr)
c.3374A>C (p.Lys1125Thr)
c.3278A>C (p.Lys1093Thr)
c.3119A>C (p.Lys1040Thr)
c.3041A>C (p.Lys1014Thr)
c.1617-1139A>C (n.1617-1139A>C)
6g.150839896A>GCA366050609PLEKHG1c.3158A>G (p.Lys1053Arg)
c.1158-1139A>G (n.1158-1139A>G)
c.3335A>G (p.Lys1112Arg)
c.3374A>G (p.Lys1125Arg)
c.3278A>G (p.Lys1093Arg)
c.3119A>G (p.Lys1040Arg)
c.3041A>G (p.Lys1014Arg)
c.1617-1139A>G (n.1617-1139A>G)
 dbSNP gnomAD v2 gnomAD v4
6g.150839896A>TCA366050610PLEKHG1c.3158A>T (p.Lys1053Ile)
c.1158-1139A>T (n.1158-1139A>T)
c.3335A>T (p.Lys1112Ile)
c.3374A>T (p.Lys1125Ile)
c.3278A>T (p.Lys1093Ile)
c.3119A>T (p.Lys1040Ile)
c.3041A>T (p.Lys1014Ile)
c.1617-1139A>T (n.1617-1139A>T)
6g.150839897A>CCA366050611PLEKHG1c.3159A>C (p.Lys1053Asn)
c.1158-1138A>C (n.1158-1138A>C)
c.3336A>C (p.Lys1112Asn)
c.3375A>C (p.Lys1125Asn)
c.3279A>C (p.Lys1093Asn)
c.3120A>C (p.Lys1040Asn)
c.3042A>C (p.Lys1014Asn)
c.1617-1138A>C (n.1617-1138A>C)
6g.150839897A>GCA452725568PLEKHG1c.3159A>G (p.Lys1053=)
c.1158-1138A>G (n.1158-1138A>G)
c.3336A>G (p.Lys1112=)
c.3375A>G (p.Lys1125=)
c.3279A>G (p.Lys1093=)
c.3120A>G (p.Lys1040=)
c.3042A>G (p.Lys1014=)
c.1617-1138A>G (n.1617-1138A>G)
6g.150839897A>TCA366050612PLEKHG1c.3159A>T (p.Lys1053Asn)
c.1158-1138A>T (n.1158-1138A>T)
c.3336A>T (p.Lys1112Asn)
c.3375A>T (p.Lys1125Asn)
c.3279A>T (p.Lys1093Asn)
c.3120A>T (p.Lys1040Asn)
c.3042A>T (p.Lys1014Asn)
c.1617-1138A>T (n.1617-1138A>T)
6g.150839898A=CA1672598745PLEKHG1c.3160A= (p.Ile1054=)
c.1158-1137A= (n.1158-1137A=)
c.3337A= (p.Ile1113=)
c.3376A= (p.Ile1126=)
c.3280A= (p.Ile1094=)
c.3121A= (p.Ile1041=)
c.3043A= (p.Ile1015=)
c.1617-1137A= (n.1617-1137A=)
6g.150839898A>CCA366050613PLEKHG1c.3160A>C (p.Ile1054Leu)
c.1158-1137A>C (n.1158-1137A>C)
c.3337A>C (p.Ile1113Leu)
c.3376A>C (p.Ile1126Leu)
c.3280A>C (p.Ile1094Leu)
c.3121A>C (p.Ile1041Leu)
c.3043A>C (p.Ile1015Leu)
c.1617-1137A>C (n.1617-1137A>C)
 dbSNP gnomAD v3 gnomAD v4
6g.150839898A>GCA366050614PLEKHG1c.3160A>G (p.Ile1054Val)
c.1158-1137A>G (n.1158-1137A>G)
c.3337A>G (p.Ile1113Val)
c.3376A>G (p.Ile1126Val)
c.3280A>G (p.Ile1094Val)
c.3121A>G (p.Ile1041Val)
c.3043A>G (p.Ile1015Val)
c.1617-1137A>G (n.1617-1137A>G)
 dbSNP gnomAD v2 gnomAD v4
6g.150839898A>TCA366050615PLEKHG1c.3160A>T (p.Ile1054Phe)
c.1158-1137A>T (n.1158-1137A>T)
c.3337A>T (p.Ile1113Phe)
c.3376A>T (p.Ile1126Phe)
c.3280A>T (p.Ile1094Phe)
c.3121A>T (p.Ile1041Phe)
c.3043A>T (p.Ile1015Phe)
c.1617-1137A>T (n.1617-1137A>T)
6g.150839899T>ACA366050616PLEKHG1c.3161T>A (p.Ile1054Asn)
c.1158-1136T>A (n.1158-1136T>A)
c.3338T>A (p.Ile1113Asn)
c.3377T>A (p.Ile1126Asn)
c.3281T>A (p.Ile1094Asn)
c.3122T>A (p.Ile1041Asn)
c.3044T>A (p.Ile1015Asn)
c.1617-1136T>A (n.1617-1136T>A)
6g.150839899T>CCA366050617PLEKHG1c.3161T>C (p.Ile1054Thr)
c.1158-1136T>C (n.1158-1136T>C)
c.3338T>C (p.Ile1113Thr)
c.3377T>C (p.Ile1126Thr)
c.3281T>C (p.Ile1094Thr)
c.3122T>C (p.Ile1041Thr)
c.3044T>C (p.Ile1015Thr)
c.1617-1136T>C (n.1617-1136T>C)
 dbSNP gnomAD v2 gnomAD v4
6g.150839899T>GCA366050618PLEKHG1c.3161T>G (p.Ile1054Ser)
c.1158-1136T>G (n.1158-1136T>G)
c.3338T>G (p.Ile1113Ser)
c.3377T>G (p.Ile1126Ser)
c.3281T>G (p.Ile1094Ser)
c.3122T>G (p.Ile1041Ser)
c.3044T>G (p.Ile1015Ser)
c.1617-1136T>G (n.1617-1136T>G)
6g.150839899T=CA1672598746PLEKHG1c.3161T= (p.Ile1054=)
c.1158-1136T= (n.1158-1136T=)
c.3338T= (p.Ile1113=)
c.3377T= (p.Ile1126=)
c.3281T= (p.Ile1094=)
c.3122T= (p.Ile1041=)
c.3044T= (p.Ile1015=)
c.1617-1136T= (n.1617-1136T=)
6g.150839900T>ACA452725574PLEKHG1c.3162T>A (p.Ile1054=)
c.1158-1135T>A (n.1158-1135T>A)
c.3339T>A (p.Ile1113=)
c.3378T>A (p.Ile1126=)
c.3282T>A (p.Ile1094=)
c.3123T>A (p.Ile1041=)
c.3045T>A (p.Ile1015=)
c.1617-1135T>A (n.1617-1135T>A)
6g.150839900T>CCA452725578PLEKHG1c.3162T>C (p.Ile1054=)
c.1158-1135T>C (n.1158-1135T>C)
c.3339T>C (p.Ile1113=)
c.3378T>C (p.Ile1126=)
c.3282T>C (p.Ile1094=)
c.3123T>C (p.Ile1041=)
c.3045T>C (p.Ile1015=)
c.1617-1135T>C (n.1617-1135T>C)
6g.150839900T>GCA366050619PLEKHG1c.3162T>G (p.Ile1054Met)
c.1158-1135T>G (n.1158-1135T>G)
c.3339T>G (p.Ile1113Met)
c.3378T>G (p.Ile1126Met)
c.3282T>G (p.Ile1094Met)
c.3123T>G (p.Ile1041Met)
c.3045T>G (p.Ile1015Met)
c.1617-1135T>G (n.1617-1135T>G)
6g.150839901C>ACA366050620PLEKHG1c.3163C>A (p.Gln1055Lys)
c.1158-1134C>A (n.1158-1134C>A)
c.3340C>A (p.Gln1114Lys)
c.3379C>A (p.Gln1127Lys)
c.3283C>A (p.Gln1095Lys)
c.3124C>A (p.Gln1042Lys)
c.3046C>A (p.Gln1016Lys)
c.1617-1134C>A (n.1617-1134C>A)
6g.150839901C>GCA366050621PLEKHG1c.3163C>G (p.Gln1055Glu)
c.1158-1134C>G (n.1158-1134C>G)
c.3340C>G (p.Gln1114Glu)
c.3379C>G (p.Gln1127Glu)
c.3283C>G (p.Gln1095Glu)
c.3124C>G (p.Gln1042Glu)
c.3046C>G (p.Gln1016Glu)
c.1617-1134C>G (n.1617-1134C>G)
6g.150839901C>TCA366050622PLEKHG1c.3163C>T (p.Gln1055Ter)
c.1158-1134C>T (n.1158-1134C>T)
c.3340C>T (p.Gln1114Ter)
c.3379C>T (p.Gln1127Ter)
c.3283C>T (p.Gln1095Ter)
c.3124C>T (p.Gln1042Ter)
c.3046C>T (p.Gln1016Ter)
c.1617-1134C>T (n.1617-1134C>T)
6g.150839901_150839904delinsCAGACA1672598747PLEKHG1c.3163_3166delinsCAGA (p.Gln1055=)
c.1158-1134_1158-1131delinsCAGA (n.1158-1134_1158-1131delinsCAGA)
c.3340_3343delinsCAGA (p.Gln1114=)
c.3379_3382delinsCAGA (p.Gln1127=)
c.3283_3286delinsCAGA (p.Gln1095=)
c.3124_3127delinsCAGA (p.Gln1042=)
c.3046_3049delinsCAGA (p.Gln1016=)
c.1617-1134_1617-1131delinsCAGA (n.1617-1134_1617-1131delinsCAGA)
6g.150839902A>CCA366050623PLEKHG1c.3164A>C (p.Gln1055Pro)
c.1158-1133A>C (n.1158-1133A>C)
c.3341A>C (p.Gln1114Pro)
c.3380A>C (p.Gln1127Pro)
c.3284A>C (p.Gln1095Pro)
c.3125A>C (p.Gln1042Pro)
c.3047A>C (p.Gln1016Pro)
c.1617-1133A>C (n.1617-1133A>C)
 gnomAD v4
6g.150839902A>GCA366050624PLEKHG1c.3164A>G (p.Gln1055Arg)
c.1158-1133A>G (n.1158-1133A>G)
c.3341A>G (p.Gln1114Arg)
c.3380A>G (p.Gln1127Arg)
c.3284A>G (p.Gln1095Arg)
c.3125A>G (p.Gln1042Arg)
c.3047A>G (p.Gln1016Arg)
c.1617-1133A>G (n.1617-1133A>G)
6g.150839902A>TCA366050625PLEKHG1c.3164A>T (p.Gln1055Leu)
c.1158-1133A>T (n.1158-1133A>T)
c.3341A>T (p.Gln1114Leu)
c.3380A>T (p.Gln1127Leu)
c.3284A>T (p.Gln1095Leu)
c.3125A>T (p.Gln1042Leu)
c.3047A>T (p.Gln1016Leu)
c.1617-1133A>T (n.1617-1133A>T)
6g.150839904_150839906delCA571436805PLEKHG1c.3166_3168del (p.Lys1056del)
c.1158-1131_1158-1129del (n.1158-1131_1158-1129del)
c.3343_3345del (p.Lys1115del)
c.3382_3384del (p.Lys1128del)
c.3286_3288del (p.Lys1096del)
c.3127_3129del (p.Lys1043del)
c.3049_3051del (p.Lys1017del)
c.1617-1131_1617-1129del (n.1617-1131_1617-1129del)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.150839903G>ACA452725588PLEKHG1c.3165G>A (p.Gln1055=)
c.1158-1132G>A (n.1158-1132G>A)
c.3342G>A (p.Gln1114=)
c.3381G>A (p.Gln1127=)
c.3285G>A (p.Gln1095=)
c.3126G>A (p.Gln1042=)
c.3048G>A (p.Gln1016=)
c.1617-1132G>A (n.1617-1132G>A)
 gnomAD v4
6g.150839903G>CCA366050627PLEKHG1c.3165G>C (p.Gln1055His)
c.1158-1132G>C (n.1158-1132G>C)
c.3342G>C (p.Gln1114His)
c.3381G>C (p.Gln1127His)
c.3285G>C (p.Gln1095His)
c.3126G>C (p.Gln1042His)
c.3048G>C (p.Gln1016His)
c.1617-1132G>C (n.1617-1132G>C)
6g.150839903G>TCA366050626PLEKHG1c.3165G>T (p.Gln1055His)
c.1158-1132G>T (n.1158-1132G>T)
c.3342G>T (p.Gln1114His)
c.3381G>T (p.Gln1127His)
c.3285G>T (p.Gln1095His)
c.3126G>T (p.Gln1042His)
c.3048G>T (p.Gln1016His)
c.1617-1132G>T (n.1617-1132G>T)
6g.150839904A=CA1672598748PLEKHG1c.3166A= (p.Lys1056=)
c.1158-1131A= (n.1158-1131A=)
c.3343A= (p.Lys1115=)
c.3382A= (p.Lys1128=)
c.3286A= (p.Lys1096=)
c.3127A= (p.Lys1043=)
c.3049A= (p.Lys1017=)
c.1617-1131A= (n.1617-1131A=)
6g.150839904A>CCA366050628PLEKHG1c.3166A>C (p.Lys1056Gln)
c.1158-1131A>C (n.1158-1131A>C)
c.3343A>C (p.Lys1115Gln)
c.3382A>C (p.Lys1128Gln)
c.3286A>C (p.Lys1096Gln)
c.3127A>C (p.Lys1043Gln)
c.3049A>C (p.Lys1017Gln)
c.1617-1131A>C (n.1617-1131A>C)
6g.150839904A>GCA366050629PLEKHG1c.3166A>G (p.Lys1056Glu)
c.1158-1131A>G (n.1158-1131A>G)
c.3343A>G (p.Lys1115Glu)
c.3382A>G (p.Lys1128Glu)
c.3286A>G (p.Lys1096Glu)
c.3127A>G (p.Lys1043Glu)
c.3049A>G (p.Lys1017Glu)
c.1617-1131A>G (n.1617-1131A>G)
6g.150839904A>TCA4048110PLEKHG1c.3166A>T (p.Lys1056Ter)
c.1158-1131A>T (n.1158-1131A>T)
c.3343A>T (p.Lys1115Ter)
c.3382A>T (p.Lys1128Ter)
c.3286A>T (p.Lys1096Ter)
c.3127A>T (p.Lys1043Ter)
c.3049A>T (p.Lys1017Ter)
c.1617-1131A>T (n.1617-1131A>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.150839905A>CCA366050630PLEKHG1c.3167A>C (p.Lys1056Thr)
c.1158-1130A>C (n.1158-1130A>C)
c.3344A>C (p.Lys1115Thr)
c.3383A>C (p.Lys1128Thr)
c.3287A>C (p.Lys1096Thr)
c.3128A>C (p.Lys1043Thr)
c.3050A>C (p.Lys1017Thr)
c.1617-1130A>C (n.1617-1130A>C)
6g.150839905A>GCA366050631PLEKHG1c.3167A>G (p.Lys1056Arg)
c.1158-1130A>G (n.1158-1130A>G)
c.3344A>G (p.Lys1115Arg)
c.3383A>G (p.Lys1128Arg)
c.3287A>G (p.Lys1096Arg)
c.3128A>G (p.Lys1043Arg)
c.3050A>G (p.Lys1017Arg)
c.1617-1130A>G (n.1617-1130A>G)
6g.150839905A>TCA366050632PLEKHG1c.3167A>T (p.Lys1056Met)
c.1158-1130A>T (n.1158-1130A>T)
c.3344A>T (p.Lys1115Met)
c.3383A>T (p.Lys1128Met)
c.3287A>T (p.Lys1096Met)
c.3128A>T (p.Lys1043Met)
c.3050A>T (p.Lys1017Met)
c.1617-1130A>T (n.1617-1130A>T)
6g.150839906G>ACA452725600PLEKHG1c.3168G>A (p.Lys1056=)
c.1158-1129G>A (n.1158-1129G>A)
c.3345G>A (p.Lys1115=)
c.3384G>A (p.Lys1128=)
c.3288G>A (p.Lys1096=)
c.3129G>A (p.Lys1043=)
c.3051G>A (p.Lys1017=)
c.1617-1129G>A (n.1617-1129G>A)
 gnomAD v4 COSMIC
6g.150839906G>CCA366050633PLEKHG1c.3168G>C (p.Lys1056Asn)
c.1158-1129G>C (n.1158-1129G>C)
c.3345G>C (p.Lys1115Asn)
c.3384G>C (p.Lys1128Asn)
c.3288G>C (p.Lys1096Asn)
c.3129G>C (p.Lys1043Asn)
c.3051G>C (p.Lys1017Asn)
c.1617-1129G>C (n.1617-1129G>C)
6g.150839906G>TCA366050634PLEKHG1c.3168G>T (p.Lys1056Asn)
c.1158-1129G>T (n.1158-1129G>T)
c.3345G>T (p.Lys1115Asn)
c.3384G>T (p.Lys1128Asn)
c.3288G>T (p.Lys1096Asn)
c.3129G>T (p.Lys1043Asn)
c.3051G>T (p.Lys1017Asn)
c.1617-1129G>T (n.1617-1129G>T)
6g.150839907G>ACA366050635PLEKHG1c.3169G>A (p.Asp1057Asn)
c.1158-1128G>A (n.1158-1128G>A)
c.3346G>A (p.Asp1116Asn)
c.3385G>A (p.Asp1129Asn)
c.3289G>A (p.Asp1097Asn)
c.3130G>A (p.Asp1044Asn)
c.3052G>A (p.Asp1018Asn)
c.1617-1128G>A (n.1617-1128G>A)
6g.150839907G>CCA366050636PLEKHG1c.3169G>C (p.Asp1057His)
c.1158-1128G>C (n.1158-1128G>C)
c.3346G>C (p.Asp1116His)
c.3385G>C (p.Asp1129His)
c.3289G>C (p.Asp1097His)
c.3130G>C (p.Asp1044His)
c.3052G>C (p.Asp1018His)
c.1617-1128G>C (n.1617-1128G>C)
6g.150839907G>TCA366050637PLEKHG1c.3169G>T (p.Asp1057Tyr)
c.1158-1128G>T (n.1158-1128G>T)
c.3346G>T (p.Asp1116Tyr)
c.3385G>T (p.Asp1129Tyr)
c.3289G>T (p.Asp1097Tyr)
c.3130G>T (p.Asp1044Tyr)
c.3052G>T (p.Asp1018Tyr)
c.1617-1128G>T (n.1617-1128G>T)
6g.150839908A=CA1672598749PLEKHG1c.3170A= (p.Asp1057=)
c.1158-1127A= (n.1158-1127A=)
c.3347A= (p.Asp1116=)
c.3386A= (p.Asp1129=)
c.3290A= (p.Asp1097=)
c.3131A= (p.Asp1044=)
c.3053A= (p.Asp1018=)
c.1617-1127A= (n.1617-1127A=)
6g.150839908A>CCA366050638PLEKHG1c.3170A>C (p.Asp1057Ala)
c.1158-1127A>C (n.1158-1127A>C)
c.3347A>C (p.Asp1116Ala)
c.3386A>C (p.Asp1129Ala)
c.3290A>C (p.Asp1097Ala)
c.3131A>C (p.Asp1044Ala)
c.3053A>C (p.Asp1018Ala)
c.1617-1127A>C (n.1617-1127A>C)
6g.150839908A>GCA366050639PLEKHG1c.3170A>G (p.Asp1057Gly)
c.1158-1127A>G (n.1158-1127A>G)
c.3347A>G (p.Asp1116Gly)
c.3386A>G (p.Asp1129Gly)
c.3290A>G (p.Asp1097Gly)
c.3131A>G (p.Asp1044Gly)
c.3053A>G (p.Asp1018Gly)
c.1617-1127A>G (n.1617-1127A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.150839908A>TCA366050640PLEKHG1c.3170A>T (p.Asp1057Val)
c.1158-1127A>T (n.1158-1127A>T)
c.3347A>T (p.Asp1116Val)
c.3386A>T (p.Asp1129Val)
c.3290A>T (p.Asp1097Val)
c.3131A>T (p.Asp1044Val)
c.3053A>T (p.Asp1018Val)
c.1617-1127A>T (n.1617-1127A>T)
6g.150839909T>ACA366050641PLEKHG1c.3171T>A (p.Asp1057Glu)
c.1158-1126T>A (n.1158-1126T>A)
c.3348T>A (p.Asp1116Glu)
c.3387T>A (p.Asp1129Glu)
c.3291T>A (p.Asp1097Glu)
c.3132T>A (p.Asp1044Glu)
c.3054T>A (p.Asp1018Glu)
c.1617-1126T>A (n.1617-1126T>A)
6g.150839909T>CCA452725607PLEKHG1c.3171T>C (p.Asp1057=)
c.1158-1126T>C (n.1158-1126T>C)
c.3348T>C (p.Asp1116=)
c.3387T>C (p.Asp1129=)
c.3291T>C (p.Asp1097=)
c.3132T>C (p.Asp1044=)
c.3054T>C (p.Asp1018=)
c.1617-1126T>C (n.1617-1126T>C)
6g.150839909T>GCA366050642PLEKHG1c.3171T>G (p.Asp1057Glu)
c.1158-1126T>G (n.1158-1126T>G)
c.3348T>G (p.Asp1116Glu)
c.3387T>G (p.Asp1129Glu)
c.3291T>G (p.Asp1097Glu)
c.3132T>G (p.Asp1044Glu)
c.3054T>G (p.Asp1018Glu)
c.1617-1126T>G (n.1617-1126T>G)
6g.150839910G>ACA366050643PLEKHG1c.3172G>A (p.Gly1058Ser)
c.1158-1125G>A (n.1158-1125G>A)
c.3349G>A (p.Gly1117Ser)
c.3388G>A (p.Gly1130Ser)
c.3292G>A (p.Gly1098Ser)
c.3133G>A (p.Gly1045Ser)
c.3055G>A (p.Gly1019Ser)
c.1617-1125G>A (n.1617-1125G>A)
 gnomAD v4
6g.150839910G>CCA366050645PLEKHG1c.3172G>C (p.Gly1058Arg)
c.1158-1125G>C (n.1158-1125G>C)
c.3349G>C (p.Gly1117Arg)
c.3388G>C (p.Gly1130Arg)
c.3292G>C (p.Gly1098Arg)
c.3133G>C (p.Gly1045Arg)
c.3055G>C (p.Gly1019Arg)
c.1617-1125G>C (n.1617-1125G>C)
6g.150839910G>TCA366050644PLEKHG1c.3172G>T (p.Gly1058Cys)
c.1158-1125G>T (n.1158-1125G>T)
c.3349G>T (p.Gly1117Cys)
c.3388G>T (p.Gly1130Cys)
c.3292G>T (p.Gly1098Cys)
c.3133G>T (p.Gly1045Cys)
c.3055G>T (p.Gly1019Cys)
c.1617-1125G>T (n.1617-1125G>T)
 gnomAD v4
6g.150839913_150839917dupCA2680776295PLEKHG1c.3175_3179dup (p.Ser1061GlyfsTer10)
c.1158-1122_1158-1118dup (n.1158-1122_1158-1118dup)
c.3352_3356dup (p.Ser1120GlyfsTer10)
c.3391_3395dup (p.Ser1133GlyfsTer10)
c.3295_3299dup (p.Ser1101GlyfsTer10)
c.3136_3140dup (p.Ser1048GlyfsTer10)
c.3058_3062dup (p.Ser1022GlyfsTer10)
c.1617-1122_1617-1118dup (n.1617-1122_1617-1118dup)
 gnomAD v4
6g.150839911G>ACA366050646PLEKHG1c.3173G>A (p.Gly1058Asp)
c.1158-1124G>A (n.1158-1124G>A)
c.3350G>A (p.Gly1117Asp)
c.3389G>A (p.Gly1130Asp)
c.3293G>A (p.Gly1098Asp)
c.3134G>A (p.Gly1045Asp)
c.3056G>A (p.Gly1019Asp)
c.1617-1124G>A (n.1617-1124G>A)
 dbSNP gnomAD v2 gnomAD v4
6g.150839911G>CCA366050647PLEKHG1c.3173G>C (p.Gly1058Ala)
c.1158-1124G>C (n.1158-1124G>C)
c.3350G>C (p.Gly1117Ala)
c.3389G>C (p.Gly1130Ala)
c.3293G>C (p.Gly1098Ala)
c.3134G>C (p.Gly1045Ala)
c.3056G>C (p.Gly1019Ala)
c.1617-1124G>C (n.1617-1124G>C)
 gnomAD v4
6g.150839911G=CA1672598750PLEKHG1c.3173G= (p.Gly1058=)
c.1158-1124G= (n.1158-1124G=)
c.3350G= (p.Gly1117=)
c.3389G= (p.Gly1130=)
c.3293G= (p.Gly1098=)
c.3134G= (p.Gly1045=)
c.3056G= (p.Gly1019=)
c.1617-1124G= (n.1617-1124G=)
6g.150839911G>TCA366050648PLEKHG1c.3173G>T (p.Gly1058Val)
c.1158-1124G>T (n.1158-1124G>T)
c.3350G>T (p.Gly1117Val)
c.3389G>T (p.Gly1130Val)
c.3293G>T (p.Gly1098Val)
c.3134G>T (p.Gly1045Val)
c.3056G>T (p.Gly1019Val)
c.1617-1124G>T (n.1617-1124G>T)
6g.150839912C>ACA452725610PLEKHG1c.3174C>A (p.Gly1058=)
c.1158-1123C>A (n.1158-1123C>A)
c.3351C>A (p.Gly1117=)
c.3390C>A (p.Gly1130=)
c.3294C>A (p.Gly1098=)
c.3135C>A (p.Gly1045=)
c.3057C>A (p.Gly1019=)
c.1617-1123C>A (n.1617-1123C>A)
6g.150839912C>GCA452725611PLEKHG1c.3174C>G (p.Gly1058=)
c.1158-1123C>G (n.1158-1123C>G)
c.3351C>G (p.Gly1117=)
c.3390C>G (p.Gly1130=)
c.3294C>G (p.Gly1098=)
c.3135C>G (p.Gly1045=)
c.3057C>G (p.Gly1019=)
c.1617-1123C>G (n.1617-1123C>G)
6g.150839912C>TCA452725613PLEKHG1c.3174C>T (p.Gly1058=)
c.1158-1123C>T (n.1158-1123C>T)
c.3351C>T (p.Gly1117=)
c.3390C>T (p.Gly1130=)
c.3294C>T (p.Gly1098=)
c.3135C>T (p.Gly1045=)
c.3057C>T (p.Gly1019=)
c.1617-1123C>T (n.1617-1123C>T)
6g.150839913T>ACA366050649PLEKHG1c.3175T>A (p.Trp1059Arg)
c.1158-1122T>A (n.1158-1122T>A)
c.3352T>A (p.Trp1118Arg)
c.3391T>A (p.Trp1131Arg)
c.3295T>A (p.Trp1099Arg)
c.3136T>A (p.Trp1046Arg)
c.3058T>A (p.Trp1020Arg)
c.1617-1122T>A (n.1617-1122T>A)
6g.150839913T>CCA366050650PLEKHG1c.3175T>C (p.Trp1059Arg)
c.1158-1122T>C (n.1158-1122T>C)
c.3352T>C (p.Trp1118Arg)
c.3391T>C (p.Trp1131Arg)
c.3295T>C (p.Trp1099Arg)
c.3136T>C (p.Trp1046Arg)
c.3058T>C (p.Trp1020Arg)
c.1617-1122T>C (n.1617-1122T>C)
6g.150839913T>GCA366050651PLEKHG1c.3175T>G (p.Trp1059Gly)
c.1158-1122T>G (n.1158-1122T>G)
c.3352T>G (p.Trp1118Gly)
c.3391T>G (p.Trp1131Gly)
c.3295T>G (p.Trp1099Gly)
c.3136T>G (p.Trp1046Gly)
c.3058T>G (p.Trp1020Gly)
c.1617-1122T>G (n.1617-1122T>G)
6g.150839914G>ACA366050654PLEKHG1c.3176G>A (p.Trp1059Ter)
c.1158-1121G>A (n.1158-1121G>A)
c.3353G>A (p.Trp1118Ter)
c.3392G>A (p.Trp1131Ter)
c.3296G>A (p.Trp1099Ter)
c.3137G>A (p.Trp1046Ter)
c.3059G>A (p.Trp1020Ter)
c.1617-1121G>A (n.1617-1121G>A)
6g.150839914G>CCA366050653PLEKHG1c.3176G>C (p.Trp1059Ser)
c.1158-1121G>C (n.1158-1121G>C)
c.3353G>C (p.Trp1118Ser)
c.3392G>C (p.Trp1131Ser)
c.3296G>C (p.Trp1099Ser)
c.3137G>C (p.Trp1046Ser)
c.3059G>C (p.Trp1020Ser)
c.1617-1121G>C (n.1617-1121G>C)
6g.150839914G>TCA366050652PLEKHG1c.3176G>T (p.Trp1059Leu)
c.1158-1121G>T (n.1158-1121G>T)
c.3353G>T (p.Trp1118Leu)
c.3392G>T (p.Trp1131Leu)
c.3296G>T (p.Trp1099Leu)
c.3137G>T (p.Trp1046Leu)
c.3059G>T (p.Trp1020Leu)
c.1617-1121G>T (n.1617-1121G>T)
6g.150839915G>ACA366050655PLEKHG1c.3177G>A (p.Trp1059Ter)
c.1158-1120G>A (n.1158-1120G>A)
c.3354G>A (p.Trp1118Ter)
c.3393G>A (p.Trp1131Ter)
c.3297G>A (p.Trp1099Ter)
c.3138G>A (p.Trp1046Ter)
c.3060G>A (p.Trp1020Ter)
c.1617-1120G>A (n.1617-1120G>A)
6g.150839915G>CCA366050656PLEKHG1c.3177G>C (p.Trp1059Cys)
c.1158-1120G>C (n.1158-1120G>C)
c.3354G>C (p.Trp1118Cys)
c.3393G>C (p.Trp1131Cys)
c.3297G>C (p.Trp1099Cys)
c.3138G>C (p.Trp1046Cys)
c.3060G>C (p.Trp1020Cys)
c.1617-1120G>C (n.1617-1120G>C)
6g.150839915G>TCA366050657PLEKHG1c.3177G>T (p.Trp1059Cys)
c.1158-1120G>T (n.1158-1120G>T)
c.3354G>T (p.Trp1118Cys)
c.3393G>T (p.Trp1131Cys)
c.3297G>T (p.Trp1099Cys)
c.3138G>T (p.Trp1046Cys)
c.3060G>T (p.Trp1020Cys)
c.1617-1120G>T (n.1617-1120G>T)
6g.150839916G>ACA366050658PLEKHG1c.3178G>A (p.Ala1060Thr)
c.1158-1119G>A (n.1158-1119G>A)
c.3355G>A (p.Ala1119Thr)
c.3394G>A (p.Ala1132Thr)
c.3298G>A (p.Ala1100Thr)
c.3139G>A (p.Ala1047Thr)
c.3061G>A (p.Ala1021Thr)
c.1617-1119G>A (n.1617-1119G>A)
 gnomAD v4
6g.150839916G>CCA366050659PLEKHG1c.3178G>C (p.Ala1060Pro)
c.1158-1119G>C (n.1158-1119G>C)
c.3355G>C (p.Ala1119Pro)
c.3394G>C (p.Ala1132Pro)
c.3298G>C (p.Ala1100Pro)
c.3139G>C (p.Ala1047Pro)
c.3061G>C (p.Ala1021Pro)
c.1617-1119G>C (n.1617-1119G>C)
6g.150839916G=CA1672598751PLEKHG1c.3178G= (p.Ala1060=)
c.1158-1119G= (n.1158-1119G=)
c.3355G= (p.Ala1119=)
c.3394G= (p.Ala1132=)
c.3298G= (p.Ala1100=)
c.3139G= (p.Ala1047=)
c.3061G= (p.Ala1021=)
c.1617-1119G= (n.1617-1119G=)
6g.150839916G>TCA4048111PLEKHG1c.3178G>T (p.Ala1060Ser)
c.1158-1119G>T (n.1158-1119G>T)
c.3355G>T (p.Ala1119Ser)
c.3394G>T (p.Ala1132Ser)
c.3298G>T (p.Ala1100Ser)
c.3139G>T (p.Ala1047Ser)
c.3061G>T (p.Ala1021Ser)
c.1617-1119G>T (n.1617-1119G>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.150839917C>ACA366050660PLEKHG1c.3179C>A (p.Ala1060Asp)
c.1158-1118C>A (n.1158-1118C>A)
c.3356C>A (p.Ala1119Asp)
c.3395C>A (p.Ala1132Asp)
c.3299C>A (p.Ala1100Asp)
c.3140C>A (p.Ala1047Asp)
c.3062C>A (p.Ala1021Asp)
c.1617-1118C>A (n.1617-1118C>A)
6g.150839917C=CA1672598752PLEKHG1c.3179C= (p.Ala1060=)
c.1158-1118C= (n.1158-1118C=)
c.3356C= (p.Ala1119=)
c.3395C= (p.Ala1132=)
c.3299C= (p.Ala1100=)
c.3140C= (p.Ala1047=)
c.3062C= (p.Ala1021=)
c.1617-1118C= (n.1617-1118C=)
6g.150839917C>GCA366050661PLEKHG1c.3179C>G (p.Ala1060Gly)
c.1158-1118C>G (n.1158-1118C>G)
c.3356C>G (p.Ala1119Gly)
c.3395C>G (p.Ala1132Gly)
c.3299C>G (p.Ala1100Gly)
c.3140C>G (p.Ala1047Gly)
c.3062C>G (p.Ala1021Gly)
c.1617-1118C>G (n.1617-1118C>G)
 gnomAD v4
6g.150839917C>TCA4048112PLEKHG1c.3179C>T (p.Ala1060Val)
c.1158-1118C>T (n.1158-1118C>T)
c.3356C>T (p.Ala1119Val)
c.3395C>T (p.Ala1132Val)
c.3299C>T (p.Ala1100Val)
c.3140C>T (p.Ala1047Val)
c.3062C>T (p.Ala1021Val)
c.1617-1118C>T (n.1617-1118C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.150839918C>ACA452725630PLEKHG1c.3180C>A (p.Ala1060=)
c.1158-1117C>A (n.1158-1117C>A)
c.3357C>A (p.Ala1119=)
c.3396C>A (p.Ala1132=)
c.3300C>A (p.Ala1100=)
c.3141C>A (p.Ala1047=)
c.3063C>A (p.Ala1021=)
c.1617-1117C>A (n.1617-1117C>A)
6g.150839918C>GCA452725631PLEKHG1c.3180C>G (p.Ala1060=)
c.1158-1117C>G (n.1158-1117C>G)
c.3357C>G (p.Ala1119=)
c.3396C>G (p.Ala1132=)
c.3300C>G (p.Ala1100=)
c.3141C>G (p.Ala1047=)
c.3063C>G (p.Ala1021=)
c.1617-1117C>G (n.1617-1117C>G)
6g.150839918C>TCA452725632PLEKHG1c.3180C>T (p.Ala1060=)
c.1158-1117C>T (n.1158-1117C>T)
c.3357C>T (p.Ala1119=)
c.3396C>T (p.Ala1132=)
c.3300C>T (p.Ala1100=)
c.3141C>T (p.Ala1047=)
c.3063C>T (p.Ala1021=)
c.1617-1117C>T (n.1617-1117C>T)
 gnomAD v4
6g.150839919A>CCA366050662PLEKHG1c.3181A>C (p.Ser1061Arg)
c.1158-1116A>C (n.1158-1116A>C)
c.3358A>C (p.Ser1120Arg)
c.3397A>C (p.Ser1133Arg)
c.3301A>C (p.Ser1101Arg)
c.3142A>C (p.Ser1048Arg)
c.3064A>C (p.Ser1022Arg)
c.1617-1116A>C (n.1617-1116A>C)
6g.150839919A>GCA366050663PLEKHG1c.3181A>G (p.Ser1061Gly)
c.1158-1116A>G (n.1158-1116A>G)
c.3358A>G (p.Ser1120Gly)
c.3397A>G (p.Ser1133Gly)
c.3301A>G (p.Ser1101Gly)
c.3142A>G (p.Ser1048Gly)
c.3064A>G (p.Ser1022Gly)
c.1617-1116A>G (n.1617-1116A>G)
6g.150839919A>TCA366050664PLEKHG1c.3181A>T (p.Ser1061Cys)
c.1158-1116A>T (n.1158-1116A>T)
c.3358A>T (p.Ser1120Cys)
c.3397A>T (p.Ser1133Cys)
c.3301A>T (p.Ser1101Cys)
c.3142A>T (p.Ser1048Cys)
c.3064A>T (p.Ser1022Cys)
c.1617-1116A>T (n.1617-1116A>T)
6g.150839920G>ACA366050665PLEKHG1c.3182G>A (p.Ser1061Asn)
c.1158-1115G>A (n.1158-1115G>A)
c.3359G>A (p.Ser1120Asn)
c.3398G>A (p.Ser1133Asn)
c.3302G>A (p.Ser1101Asn)
c.3143G>A (p.Ser1048Asn)
c.3065G>A (p.Ser1022Asn)
c.1617-1115G>A (n.1617-1115G>A)
 dbSNP gnomAD v2 gnomAD v4
6g.150839920G>CCA366050666PLEKHG1c.3182G>C (p.Ser1061Thr)
c.1158-1115G>C (n.1158-1115G>C)
c.3359G>C (p.Ser1120Thr)
c.3398G>C (p.Ser1133Thr)
c.3302G>C (p.Ser1101Thr)
c.3143G>C (p.Ser1048Thr)
c.3065G>C (p.Ser1022Thr)
c.1617-1115G>C (n.1617-1115G>C)
6g.150839920G=CA1672598753PLEKHG1c.3182G= (p.Ser1061=)
c.1158-1115G= (n.1158-1115G=)
c.3359G= (p.Ser1120=)
c.3398G= (p.Ser1133=)
c.3302G= (p.Ser1101=)
c.3143G= (p.Ser1048=)
c.3065G= (p.Ser1022=)
c.1617-1115G= (n.1617-1115G=)
6g.150839920G>TCA366050667PLEKHG1c.3182G>T (p.Ser1061Ile)
c.1158-1115G>T (n.1158-1115G>T)
c.3359G>T (p.Ser1120Ile)
c.3398G>T (p.Ser1133Ile)
c.3302G>T (p.Ser1101Ile)
c.3143G>T (p.Ser1048Ile)
c.3065G>T (p.Ser1022Ile)
c.1617-1115G>T (n.1617-1115G>T)
6g.150839921C>ACA366050668PLEKHG1c.3183C>A (p.Ser1061Arg)
c.1158-1114C>A (n.1158-1114C>A)
c.3360C>A (p.Ser1120Arg)
c.3399C>A (p.Ser1133Arg)
c.3303C>A (p.Ser1101Arg)
c.3144C>A (p.Ser1048Arg)
c.3066C>A (p.Ser1022Arg)
c.1617-1114C>A (n.1617-1114C>A)
6g.150839921C>GCA366050669PLEKHG1c.3183C>G (p.Ser1061Arg)
c.1158-1114C>G (n.1158-1114C>G)
c.3360C>G (p.Ser1120Arg)
c.3399C>G (p.Ser1133Arg)
c.3303C>G (p.Ser1101Arg)
c.3144C>G (p.Ser1048Arg)
c.3066C>G (p.Ser1022Arg)
c.1617-1114C>G (n.1617-1114C>G)
6g.150839921C>TCA452725639PLEKHG1c.3183C>T (p.Ser1061=)
c.1158-1114C>T (n.1158-1114C>T)
c.3360C>T (p.Ser1120=)
c.3399C>T (p.Ser1133=)
c.3303C>T (p.Ser1101=)
c.3144C>T (p.Ser1048=)
c.3066C>T (p.Ser1022=)
c.1617-1114C>T (n.1617-1114C>T)
6g.150839922C>ACA366050670PLEKHG1c.3184C>A (p.Pro1062Thr)
c.1158-1113C>A (n.1158-1113C>A)
c.3361C>A (p.Pro1121Thr)
c.3400C>A (p.Pro1134Thr)
c.3304C>A (p.Pro1102Thr)
c.3145C>A (p.Pro1049Thr)
c.3067C>A (p.Pro1023Thr)
c.1617-1113C>A (n.1617-1113C>A)
6g.150839922C>GCA366050671PLEKHG1c.3184C>G (p.Pro1062Ala)
c.1158-1113C>G (n.1158-1113C>G)
c.3361C>G (p.Pro1121Ala)
c.3400C>G (p.Pro1134Ala)
c.3304C>G (p.Pro1102Ala)
c.3145C>G (p.Pro1049Ala)
c.3067C>G (p.Pro1023Ala)
c.1617-1113C>G (n.1617-1113C>G)
6g.150839922C>TCA366050672PLEKHG1c.3184C>T (p.Pro1062Ser)
c.1158-1113C>T (n.1158-1113C>T)
c.3361C>T (p.Pro1121Ser)
c.3400C>T (p.Pro1134Ser)
c.3304C>T (p.Pro1102Ser)
c.3145C>T (p.Pro1049Ser)
c.3067C>T (p.Pro1023Ser)
c.1617-1113C>T (n.1617-1113C>T)
6g.150839923C>ACA366050673PLEKHG1c.3185C>A (p.Pro1062His)
c.1158-1112C>A (n.1158-1112C>A)
c.3362C>A (p.Pro1121His)
c.3401C>A (p.Pro1134His)
c.3305C>A (p.Pro1102His)
c.3146C>A (p.Pro1049His)
c.3068C>A (p.Pro1023His)
c.1617-1112C>A (n.1617-1112C>A)
6g.150839923C=CA1672598754PLEKHG1c.3185C= (p.Pro1062=)
c.1158-1112C= (n.1158-1112C=)
c.3362C= (p.Pro1121=)
c.3401C= (p.Pro1134=)
c.3305C= (p.Pro1102=)
c.3146C= (p.Pro1049=)
c.3068C= (p.Pro1023=)
c.1617-1112C= (n.1617-1112C=)
6g.150839923C>GCA366050675PLEKHG1c.3185C>G (p.Pro1062Arg)
c.1158-1112C>G (n.1158-1112C>G)
c.3362C>G (p.Pro1121Arg)
c.3401C>G (p.Pro1134Arg)
c.3305C>G (p.Pro1102Arg)
c.3146C>G (p.Pro1049Arg)
c.3068C>G (p.Pro1023Arg)
c.1617-1112C>G (n.1617-1112C>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.150839923C>TCA366050674PLEKHG1c.3185C>T (p.Pro1062Leu)
c.1158-1112C>T (n.1158-1112C>T)
c.3362C>T (p.Pro1121Leu)
c.3401C>T (p.Pro1134Leu)
c.3305C>T (p.Pro1102Leu)
c.3146C>T (p.Pro1049Leu)
c.3068C>T (p.Pro1023Leu)
c.1617-1112C>T (n.1617-1112C>T)
6g.150839924T>ACA452725654PLEKHG1c.3186T>A (p.Pro1062=)
c.1158-1111T>A (n.1158-1111T>A)
c.3363T>A (p.Pro1121=)
c.3402T>A (p.Pro1134=)
c.3306T>A (p.Pro1102=)
c.3147T>A (p.Pro1049=)
c.3069T>A (p.Pro1023=)
c.1617-1111T>A (n.1617-1111T>A)
6g.150839924T>CCA452725655PLEKHG1c.3186T>C (p.Pro1062=)
c.1158-1111T>C (n.1158-1111T>C)
c.3363T>C (p.Pro1121=)
c.3402T>C (p.Pro1134=)
c.3306T>C (p.Pro1102=)
c.3147T>C (p.Pro1049=)
c.3069T>C (p.Pro1023=)
c.1617-1111T>C (n.1617-1111T>C)
6g.150839924T>GCA452725652PLEKHG1c.3186T>G (p.Pro1062=)
c.1158-1111T>G (n.1158-1111T>G)
c.3363T>G (p.Pro1121=)
c.3402T>G (p.Pro1134=)
c.3306T>G (p.Pro1102=)
c.3147T>G (p.Pro1049=)
c.3069T>G (p.Pro1023=)
c.1617-1111T>G (n.1617-1111T>G)
6g.150839925C>ACA366050676PLEKHG1c.3187C>A (p.Gln1063Lys)
c.1158-1110C>A (n.1158-1110C>A)
c.3364C>A (p.Gln1122Lys)
c.3403C>A (p.Gln1135Lys)
c.3307C>A (p.Gln1103Lys)
c.3148C>A (p.Gln1050Lys)
c.3070C>A (p.Gln1024Lys)
c.1617-1110C>A (n.1617-1110C>A)
6g.150839925C>GCA366050677PLEKHG1c.3187C>G (p.Gln1063Glu)
c.1158-1110C>G (n.1158-1110C>G)
c.3364C>G (p.Gln1122Glu)
c.3403C>G (p.Gln1135Glu)
c.3307C>G (p.Gln1103Glu)
c.3148C>G (p.Gln1050Glu)
c.3070C>G (p.Gln1024Glu)
c.1617-1110C>G (n.1617-1110C>G)
6g.150839925C>TCA366050678PLEKHG1c.3187C>T (p.Gln1063Ter)
c.1158-1110C>T (n.1158-1110C>T)
c.3364C>T (p.Gln1122Ter)
c.3403C>T (p.Gln1135Ter)
c.3307C>T (p.Gln1103Ter)
c.3148C>T (p.Gln1050Ter)
c.3070C>T (p.Gln1024Ter)
c.1617-1110C>T (n.1617-1110C>T)
6g.150839926A=CA1672598755PLEKHG1c.3188A= (p.Gln1063=)
c.1158-1109A= (n.1158-1109A=)
c.3365A= (p.Gln1122=)
c.3404A= (p.Gln1135=)
c.3308A= (p.Gln1103=)
c.3149A= (p.Gln1050=)
c.3071A= (p.Gln1024=)
c.1617-1109A= (n.1617-1109A=)
6g.150839926A>CCA366050679PLEKHG1c.3188A>C (p.Gln1063Pro)
c.1158-1109A>C (n.1158-1109A>C)
c.3365A>C (p.Gln1122Pro)
c.3404A>C (p.Gln1135Pro)
c.3308A>C (p.Gln1103Pro)
c.3149A>C (p.Gln1050Pro)
c.3071A>C (p.Gln1024Pro)
c.1617-1109A>C (n.1617-1109A>C)
6g.150839926A>GCA366050680PLEKHG1c.3188A>G (p.Gln1063Arg)
c.1158-1109A>G (n.1158-1109A>G)
c.3365A>G (p.Gln1122Arg)
c.3404A>G (p.Gln1135Arg)
c.3308A>G (p.Gln1103Arg)
c.3149A>G (p.Gln1050Arg)
c.3071A>G (p.Gln1024Arg)
c.1617-1109A>G (n.1617-1109A>G)
6g.150839926A>TCA366050681PLEKHG1c.3188A>T (p.Gln1063Leu)
c.1158-1109A>T (n.1158-1109A>T)
c.3365A>T (p.Gln1122Leu)
c.3404A>T (p.Gln1135Leu)
c.3308A>T (p.Gln1103Leu)
c.3149A>T (p.Gln1050Leu)
c.3071A>T (p.Gln1024Leu)
c.1617-1109A>T (n.1617-1109A>T)
 dbSNP
6g.150839927A>CCA366050682PLEKHG1c.3189A>C (p.Gln1063His)
c.1158-1108A>C (n.1158-1108A>C)
c.3366A>C (p.Gln1122His)
c.3405A>C (p.Gln1135His)
c.3309A>C (p.Gln1103His)
c.3150A>C (p.Gln1050His)
c.3072A>C (p.Gln1024His)
c.1617-1108A>C (n.1617-1108A>C)
6g.150839927A>GCA452725660PLEKHG1c.3189A>G (p.Gln1063=)
c.1158-1108A>G (n.1158-1108A>G)
c.3366A>G (p.Gln1122=)
c.3405A>G (p.Gln1135=)
c.3309A>G (p.Gln1103=)
c.3150A>G (p.Gln1050=)
c.3072A>G (p.Gln1024=)
c.1617-1108A>G (n.1617-1108A>G)
 gnomAD v4
6g.150839927A>TCA366050683PLEKHG1c.3189A>T (p.Gln1063His)
c.1158-1108A>T (n.1158-1108A>T)
c.3366A>T (p.Gln1122His)
c.3405A>T (p.Gln1135His)
c.3309A>T (p.Gln1103His)
c.3150A>T (p.Gln1050His)
c.3072A>T (p.Gln1024His)
c.1617-1108A>T (n.1617-1108A>T)
6g.150839928G>ACA366050684PLEKHG1c.3190G>A (p.Glu1064Lys)
c.1158-1107G>A (n.1158-1107G>A)
c.3367G>A (p.Glu1123Lys)
c.3406G>A (p.Glu1136Lys)
c.3310G>A (p.Glu1104Lys)
c.3151G>A (p.Glu1051Lys)
c.3073G>A (p.Glu1025Lys)
c.1617-1107G>A (n.1617-1107G>A)
6g.150839928G>CCA366050685PLEKHG1c.3190G>C (p.Glu1064Gln)
c.1158-1107G>C (n.1158-1107G>C)
c.3367G>C (p.Glu1123Gln)
c.3406G>C (p.Glu1136Gln)
c.3310G>C (p.Glu1104Gln)
c.3151G>C (p.Glu1051Gln)
c.3073G>C (p.Glu1025Gln)
c.1617-1107G>C (n.1617-1107G>C)
6g.150839928G>TCA366050686PLEKHG1c.3190G>T (p.Glu1064Ter)
c.1158-1107G>T (n.1158-1107G>T)
c.3367G>T (p.Glu1123Ter)
c.3406G>T (p.Glu1136Ter)
c.3310G>T (p.Glu1104Ter)
c.3151G>T (p.Glu1051Ter)
c.3073G>T (p.Glu1025Ter)
c.1617-1107G>T (n.1617-1107G>T)
6g.150839929A>CCA366050689PLEKHG1c.3191A>C (p.Glu1064Ala)
c.1158-1106A>C (n.1158-1106A>C)
c.3368A>C (p.Glu1123Ala)
c.3407A>C (p.Glu1136Ala)
c.3311A>C (p.Glu1104Ala)
c.3152A>C (p.Glu1051Ala)
c.3074A>C (p.Glu1025Ala)
c.1617-1106A>C (n.1617-1106A>C)
6g.150839929A>GCA366050688PLEKHG1c.3191A>G (p.Glu1064Gly)
c.1158-1106A>G (n.1158-1106A>G)
c.3368A>G (p.Glu1123Gly)
c.3407A>G (p.Glu1136Gly)
c.3311A>G (p.Glu1104Gly)
c.3152A>G (p.Glu1051Gly)
c.3074A>G (p.Glu1025Gly)
c.1617-1106A>G (n.1617-1106A>G)
6g.150839929A>TCA366050687PLEKHG1c.3191A>T (p.Glu1064Val)
c.1158-1106A>T (n.1158-1106A>T)
c.3368A>T (p.Glu1123Val)
c.3407A>T (p.Glu1136Val)
c.3311A>T (p.Glu1104Val)
c.3152A>T (p.Glu1051Val)
c.3074A>T (p.Glu1025Val)
c.1617-1106A>T (n.1617-1106A>T)
6g.150839930A>CCA366050690PLEKHG1c.3192A>C (p.Glu1064Asp)
c.1158-1105A>C (n.1158-1105A>C)
c.3369A>C (p.Glu1123Asp)
c.3408A>C (p.Glu1136Asp)
c.3312A>C (p.Glu1104Asp)
c.3153A>C (p.Glu1051Asp)
c.3075A>C (p.Glu1025Asp)
c.1617-1105A>C (n.1617-1105A>C)
6g.150839930A>GCA452725666PLEKHG1c.3192A>G (p.Glu1064=)
c.1158-1105A>G (n.1158-1105A>G)
c.3369A>G (p.Glu1123=)
c.3408A>G (p.Glu1136=)
c.3312A>G (p.Glu1104=)
c.3153A>G (p.Glu1051=)
c.3075A>G (p.Glu1025=)
c.1617-1105A>G (n.1617-1105A>G)
6g.150839930A>TCA366050691PLEKHG1c.3192A>T (p.Glu1064Asp)
c.1158-1105A>T (n.1158-1105A>T)
c.3369A>T (p.Glu1123Asp)
c.3408A>T (p.Glu1136Asp)
c.3312A>T (p.Glu1104Asp)
c.3153A>T (p.Glu1051Asp)
c.3075A>T (p.Glu1025Asp)
c.1617-1105A>T (n.1617-1105A>T)
6g.150839931T>ACA366050692PLEKHG1c.3193T>A (p.Ser1065Thr)
c.1158-1104T>A (n.1158-1104T>A)
c.3370T>A (p.Ser1124Thr)
c.3409T>A (p.Ser1137Thr)
c.3313T>A (p.Ser1105Thr)
c.3154T>A (p.Ser1052Thr)
c.3076T>A (p.Ser1026Thr)
c.1617-1104T>A (n.1617-1104T>A)
6g.150839931T>CCA366050693PLEKHG1c.3193T>C (p.Ser1065Pro)
c.1158-1104T>C (n.1158-1104T>C)
c.3370T>C (p.Ser1124Pro)
c.3409T>C (p.Ser1137Pro)
c.3313T>C (p.Ser1105Pro)
c.3154T>C (p.Ser1052Pro)
c.3076T>C (p.Ser1026Pro)
c.1617-1104T>C (n.1617-1104T>C)
 dbSNP gnomAD v2 gnomAD v4
6g.150839931T>GCA366050694PLEKHG1c.3193T>G (p.Ser1065Ala)
c.1158-1104T>G (n.1158-1104T>G)
c.3370T>G (p.Ser1124Ala)
c.3409T>G (p.Ser1137Ala)
c.3313T>G (p.Ser1105Ala)
c.3154T>G (p.Ser1052Ala)
c.3076T>G (p.Ser1026Ala)
c.1617-1104T>G (n.1617-1104T>G)
6g.150839931T=CA1672598756PLEKHG1c.3193T= (p.Ser1065=)
c.1158-1104T= (n.1158-1104T=)
c.3370T= (p.Ser1124=)
c.3409T= (p.Ser1137=)
c.3313T= (p.Ser1105=)
c.3154T= (p.Ser1052=)
c.3076T= (p.Ser1026=)
c.1617-1104T= (n.1617-1104T=)
6g.150839932C>ACA366050695PLEKHG1c.3194C>A (p.Ser1065Tyr)
c.1158-1103C>A (n.1158-1103C>A)
c.3371C>A (p.Ser1124Tyr)
c.3410C>A (p.Ser1137Tyr)
c.3314C>A (p.Ser1105Tyr)
c.3155C>A (p.Ser1052Tyr)
c.3077C>A (p.Ser1026Tyr)
c.1617-1103C>A (n.1617-1103C>A)
6g.150839932C>GCA366050696PLEKHG1c.3194C>G (p.Ser1065Cys)
c.1158-1103C>G (n.1158-1103C>G)
c.3371C>G (p.Ser1124Cys)
c.3410C>G (p.Ser1137Cys)
c.3314C>G (p.Ser1105Cys)
c.3155C>G (p.Ser1052Cys)
c.3077C>G (p.Ser1026Cys)
c.1617-1103C>G (n.1617-1103C>G)
6g.150839932C>TCA366050697PLEKHG1c.3194C>T (p.Ser1065Phe)
c.1158-1103C>T (n.1158-1103C>T)
c.3371C>T (p.Ser1124Phe)
c.3410C>T (p.Ser1137Phe)
c.3314C>T (p.Ser1105Phe)
c.3155C>T (p.Ser1052Phe)
c.3077C>T (p.Ser1026Phe)
c.1617-1103C>T (n.1617-1103C>T)
6g.150839933C>ACA452725673PLEKHG1c.3195C>A (p.Ser1065=)
c.1158-1102C>A (n.1158-1102C>A)
c.3372C>A (p.Ser1124=)
c.3411C>A (p.Ser1137=)
c.3315C>A (p.Ser1105=)
c.3156C>A (p.Ser1052=)
c.3078C>A (p.Ser1026=)
c.1617-1102C>A (n.1617-1102C>A)
6g.150839933C=CA1672598757PLEKHG1c.3195C= (p.Ser1065=)
c.1158-1102C= (n.1158-1102C=)
c.3372C= (p.Ser1124=)
c.3411C= (p.Ser1137=)
c.3315C= (p.Ser1105=)
c.3156C= (p.Ser1052=)
c.3078C= (p.Ser1026=)
c.1617-1102C= (n.1617-1102C=)
6g.150839933C>GCA452725675PLEKHG1c.3195C>G (p.Ser1065=)
c.1158-1102C>G (n.1158-1102C>G)
c.3372C>G (p.Ser1124=)
c.3411C>G (p.Ser1137=)
c.3315C>G (p.Ser1105=)
c.3156C>G (p.Ser1052=)
c.3078C>G (p.Ser1026=)
c.1617-1102C>G (n.1617-1102C>G)
6g.150839933C>TCA4048113PLEKHG1c.3195C>T (p.Ser1065=)
c.1158-1102C>T (n.1158-1102C>T)
c.3372C>T (p.Ser1124=)
c.3411C>T (p.Ser1137=)
c.3315C>T (p.Ser1105=)
c.3156C>T (p.Ser1052=)
c.3078C>T (p.Ser1026=)
c.1617-1102C>T (n.1617-1102C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.150839934T>ACA366050698PLEKHG1c.3196T>A (p.Ser1066Thr)
c.1158-1101T>A (n.1158-1101T>A)
c.3373T>A (p.Ser1125Thr)
c.3412T>A (p.Ser1138Thr)
c.3316T>A (p.Ser1106Thr)
c.3157T>A (p.Ser1053Thr)
c.3079T>A (p.Ser1027Thr)
c.1617-1101T>A (n.1617-1101T>A)
6g.150839934T>CCA366050699PLEKHG1c.3196T>C (p.Ser1066Pro)
c.1158-1101T>C (n.1158-1101T>C)
c.3373T>C (p.Ser1125Pro)
c.3412T>C (p.Ser1138Pro)
c.3316T>C (p.Ser1106Pro)
c.3157T>C (p.Ser1053Pro)
c.3079T>C (p.Ser1027Pro)
c.1617-1101T>C (n.1617-1101T>C)
6g.150839934T>GCA366050700PLEKHG1c.3196T>G (p.Ser1066Ala)
c.1158-1101T>G (n.1158-1101T>G)
c.3373T>G (p.Ser1125Ala)
c.3412T>G (p.Ser1138Ala)
c.3316T>G (p.Ser1106Ala)
c.3157T>G (p.Ser1053Ala)
c.3079T>G (p.Ser1027Ala)
c.1617-1101T>G (n.1617-1101T>G)
6g.150839935C>ACA366050703PLEKHG1c.3197C>A (p.Ser1066Tyr)
c.1158-1100C>A (n.1158-1100C>A)
c.3374C>A (p.Ser1125Tyr)
c.3413C>A (p.Ser1138Tyr)
c.3317C>A (p.Ser1106Tyr)
c.3158C>A (p.Ser1053Tyr)
c.3080C>A (p.Ser1027Tyr)
c.1617-1100C>A (n.1617-1100C>A)
6g.150839935C>GCA366050702PLEKHG1c.3197C>G (p.Ser1066Cys)
c.1158-1100C>G (n.1158-1100C>G)
c.3374C>G (p.Ser1125Cys)
c.3413C>G (p.Ser1138Cys)
c.3317C>G (p.Ser1106Cys)
c.3158C>G (p.Ser1053Cys)
c.3080C>G (p.Ser1027Cys)
c.1617-1100C>G (n.1617-1100C>G)
 gnomAD v4
6g.150839935C>TCA366050701PLEKHG1c.3197C>T (p.Ser1066Phe)
c.1158-1100C>T (n.1158-1100C>T)
c.3374C>T (p.Ser1125Phe)
c.3413C>T (p.Ser1138Phe)
c.3317C>T (p.Ser1106Phe)
c.3158C>T (p.Ser1053Phe)
c.3080C>T (p.Ser1027Phe)
c.1617-1100C>T (n.1617-1100C>T)
 gnomAD v4
6g.150839936C>ACA452725683PLEKHG1c.3198C>A (p.Ser1066=)
c.1158-1099C>A (n.1158-1099C>A)
c.3375C>A (p.Ser1125=)
c.3414C>A (p.Ser1138=)
c.3318C>A (p.Ser1106=)
c.3159C>A (p.Ser1053=)
c.3081C>A (p.Ser1027=)
c.1617-1099C>A (n.1617-1099C>A)
6g.150839936C=CA1672598758PLEKHG1c.3198C= (p.Ser1066=)
c.1158-1099C= (n.1158-1099C=)
c.3375C= (p.Ser1125=)
c.3414C= (p.Ser1138=)
c.3318C= (p.Ser1106=)
c.3159C= (p.Ser1053=)
c.3081C= (p.Ser1027=)
c.1617-1099C= (n.1617-1099C=)
6g.150839936C>GCA452725684PLEKHG1c.3198C>G (p.Ser1066=)
c.1158-1099C>G (n.1158-1099C>G)
c.3375C>G (p.Ser1125=)
c.3414C>G (p.Ser1138=)
c.3318C>G (p.Ser1106=)
c.3159C>G (p.Ser1053=)
c.3081C>G (p.Ser1027=)
c.1617-1099C>G (n.1617-1099C>G)
6g.150839936C>TCA452725685PLEKHG1c.3198C>T (p.Ser1066=)
c.1158-1099C>T (n.1158-1099C>T)
c.3375C>T (p.Ser1125=)
c.3414C>T (p.Ser1138=)
c.3318C>T (p.Ser1106=)
c.3159C>T (p.Ser1053=)
c.3081C>T (p.Ser1027=)
c.1617-1099C>T (n.1617-1099C>T)
 dbSNP gnomAD v4
6g.150839937C>ACA366050705PLEKHG1c.3199C>A (p.Leu1067Ile)
c.1158-1098C>A (n.1158-1098C>A)
c.3376C>A (p.Leu1126Ile)
c.3415C>A (p.Leu1139Ile)
c.3319C>A (p.Leu1107Ile)
c.3160C>A (p.Leu1054Ile)
c.3082C>A (p.Leu1028Ile)
c.1617-1098C>A (n.1617-1098C>A)
6g.150839937C=CA1672598759PLEKHG1c.3199C= (p.Leu1067=)
c.1158-1098C= (n.1158-1098C=)
c.3376C= (p.Leu1126=)
c.3415C= (p.Leu1139=)
c.3319C= (p.Leu1107=)
c.3160C= (p.Leu1054=)
c.3082C= (p.Leu1028=)
c.1617-1098C= (n.1617-1098C=)
6g.150839937C>GCA366050704PLEKHG1c.3199C>G (p.Leu1067Val)
c.1158-1098C>G (n.1158-1098C>G)
c.3376C>G (p.Leu1126Val)
c.3415C>G (p.Leu1139Val)
c.3319C>G (p.Leu1107Val)
c.3160C>G (p.Leu1054Val)
c.3082C>G (p.Leu1028Val)
c.1617-1098C>G (n.1617-1098C>G)
 dbSNP gnomAD v2 gnomAD v4
6g.150839937C>TCA366050706PLEKHG1c.3199C>T (p.Leu1067Phe)
c.1158-1098C>T (n.1158-1098C>T)
c.3376C>T (p.Leu1126Phe)
c.3415C>T (p.Leu1139Phe)
c.3319C>T (p.Leu1107Phe)
c.3160C>T (p.Leu1054Phe)
c.3082C>T (p.Leu1028Phe)
c.1617-1098C>T (n.1617-1098C>T)
 dbSNP gnomAD v4 COSMIC
6g.150839938T>ACA366050707PLEKHG1c.3200T>A (p.Leu1067His)
c.1158-1097T>A (n.1158-1097T>A)
c.3377T>A (p.Leu1126His)
c.3416T>A (p.Leu1139His)
c.3320T>A (p.Leu1107His)
c.3161T>A (p.Leu1054His)
c.3083T>A (p.Leu1028His)
c.1617-1097T>A (n.1617-1097T>A)
 gnomAD v4
6g.150839938T>CCA366050708PLEKHG1c.3200T>C (p.Leu1067Pro)
c.1158-1097T>C (n.1158-1097T>C)
c.3377T>C (p.Leu1126Pro)
c.3416T>C (p.Leu1139Pro)
c.3320T>C (p.Leu1107Pro)
c.3161T>C (p.Leu1054Pro)
c.3083T>C (p.Leu1028Pro)
c.1617-1097T>C (n.1617-1097T>C)
6g.150839938T>GCA366050709PLEKHG1c.3200T>G (p.Leu1067Arg)
c.1158-1097T>G (n.1158-1097T>G)
c.3377T>G (p.Leu1126Arg)
c.3416T>G (p.Leu1139Arg)
c.3320T>G (p.Leu1107Arg)
c.3161T>G (p.Leu1054Arg)
c.3083T>G (p.Leu1028Arg)
c.1617-1097T>G (n.1617-1097T>G)
6g.150839939C>ACA150073180PLEKHG1c.3201C>A (p.Leu1067=)
c.1158-1096C>A (n.1158-1096C>A)
c.3378C>A (p.Leu1126=)
c.3417C>A (p.Leu1139=)
c.3321C>A (p.Leu1107=)
c.3162C>A (p.Leu1054=)
c.3084C>A (p.Leu1028=)
c.1617-1096C>A (n.1617-1096C>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.150839939C=CA1672598760PLEKHG1c.3201C= (p.Leu1067=)
c.1158-1096C= (n.1158-1096C=)
c.3378C= (p.Leu1126=)
c.3417C= (p.Leu1139=)
c.3321C= (p.Leu1107=)
c.3162C= (p.Leu1054=)
c.3084C= (p.Leu1028=)
c.1617-1096C= (n.1617-1096C=)
6g.150839939C>GCA452725691PLEKHG1c.3201C>G (p.Leu1067=)
c.1158-1096C>G (n.1158-1096C>G)
c.3378C>G (p.Leu1126=)
c.3417C>G (p.Leu1139=)
c.3321C>G (p.Leu1107=)
c.3162C>G (p.Leu1054=)
c.3084C>G (p.Leu1028=)
c.1617-1096C>G (n.1617-1096C>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.150839939C>TCA452725692PLEKHG1c.3201C>T (p.Leu1067=)
c.1158-1096C>T (n.1158-1096C>T)
c.3378C>T (p.Leu1126=)
c.3417C>T (p.Leu1139=)
c.3321C>T (p.Leu1107=)
c.3162C>T (p.Leu1054=)
c.3084C>T (p.Leu1028=)
c.1617-1096C>T (n.1617-1096C>T)
 gnomAD v4
6g.150839940C>ACA366050710PLEKHG1c.3202C>A (p.Leu1068Met)
c.1158-1095C>A (n.1158-1095C>A)
c.3379C>A (p.Leu1127Met)
c.3418C>A (p.Leu1140Met)
c.3322C>A (p.Leu1108Met)
c.3163C>A (p.Leu1055Met)
c.3085C>A (p.Leu1029Met)
c.1617-1095C>A (n.1617-1095C>A)
6g.150839940C=CA1672598761PLEKHG1c.3202C= (p.Leu1068=)
c.1158-1095C= (n.1158-1095C=)
c.3379C= (p.Leu1127=)
c.3418C= (p.Leu1140=)
c.3322C= (p.Leu1108=)
c.3163C= (p.Leu1055=)
c.3085C= (p.Leu1029=)
c.1617-1095C= (n.1617-1095C=)
6g.150839940C>GCA366050711PLEKHG1c.3202C>G (p.Leu1068Val)
c.1158-1095C>G (n.1158-1095C>G)
c.3379C>G (p.Leu1127Val)
c.3418C>G (p.Leu1140Val)
c.3322C>G (p.Leu1108Val)
c.3163C>G (p.Leu1055Val)
c.3085C>G (p.Leu1029Val)
c.1617-1095C>G (n.1617-1095C>G)
6g.150839940C>TCA150073182PLEKHG1c.3202C>T (p.Leu1068=)
c.1158-1095C>T (n.1158-1095C>T)
c.3379C>T (p.Leu1127=)
c.3418C>T (p.Leu1140=)
c.3322C>T (p.Leu1108=)
c.3163C>T (p.Leu1055=)
c.3085C>T (p.Leu1029=)
c.1617-1095C>T (n.1617-1095C>T)
 dbSNP gnomAD v4
6g.150839941T>ACA366050712PLEKHG1c.3203T>A (p.Leu1068Gln)
c.1158-1094T>A (n.1158-1094T>A)
c.3380T>A (p.Leu1127Gln)
c.3419T>A (p.Leu1140Gln)
c.3323T>A (p.Leu1108Gln)
c.3164T>A (p.Leu1055Gln)
c.3086T>A (p.Leu1029Gln)
c.1617-1094T>A (n.1617-1094T>A)
 dbSNP
6g.150839941T>CCA366050713PLEKHG1c.3203T>C (p.Leu1068Pro)
c.1158-1094T>C (n.1158-1094T>C)
c.3380T>C (p.Leu1127Pro)
c.3419T>C (p.Leu1140Pro)
c.3323T>C (p.Leu1108Pro)
c.3164T>C (p.Leu1055Pro)
c.3086T>C (p.Leu1029Pro)
c.1617-1094T>C (n.1617-1094T>C)
6g.150839941T>GCA366050714PLEKHG1c.3203T>G (p.Leu1068Arg)
c.1158-1094T>G (n.1158-1094T>G)
c.3380T>G (p.Leu1127Arg)
c.3419T>G (p.Leu1140Arg)
c.3323T>G (p.Leu1108Arg)
c.3164T>G (p.Leu1055Arg)
c.3086T>G (p.Leu1029Arg)
c.1617-1094T>G (n.1617-1094T>G)
 gnomAD v4
6g.150839941T=CA1672598762PLEKHG1c.3203T= (p.Leu1068=)
c.1158-1094T= (n.1158-1094T=)
c.3380T= (p.Leu1127=)
c.3419T= (p.Leu1140=)
c.3323T= (p.Leu1108=)
c.3164T= (p.Leu1055=)
c.3086T= (p.Leu1029=)
c.1617-1094T= (n.1617-1094T=)
6g.150839942G>ACA452725710PLEKHG1c.3204G>A (p.Leu1068=)
c.1158-1093G>A (n.1158-1093G>A)
c.3381G>A (p.Leu1127=)
c.3420G>A (p.Leu1140=)
c.3324G>A (p.Leu1108=)
c.3165G>A (p.Leu1055=)
c.3087G>A (p.Leu1029=)
c.1617-1093G>A (n.1617-1093G>A)
6g.150839942G>CCA452725712PLEKHG1c.3204G>C (p.Leu1068=)
c.1158-1093G>C (n.1158-1093G>C)
c.3381G>C (p.Leu1127=)
c.3420G>C (p.Leu1140=)
c.3324G>C (p.Leu1108=)
c.3165G>C (p.Leu1055=)
c.3087G>C (p.Leu1029=)
c.1617-1093G>C (n.1617-1093G>C)
6g.150839942G>TCA452725713PLEKHG1c.3204G>T (p.Leu1068=)
c.1158-1093G>T (n.1158-1093G>T)
c.3381G>T (p.Leu1127=)
c.3420G>T (p.Leu1140=)
c.3324G>T (p.Leu1108=)
c.3165G>T (p.Leu1055=)
c.3087G>T (p.Leu1029=)
c.1617-1093G>T (n.1617-1093G>T)
6g.150839943A>CCA452725715PLEKHG1c.3205A>C (p.Arg1069=)
c.1158-1092A>C (n.1158-1092A>C)
c.3382A>C (p.Arg1128=)
c.3421A>C (p.Arg1141=)
c.3325A>C (p.Arg1109=)
c.3166A>C (p.Arg1056=)
c.3088A>C (p.Arg1030=)
c.1617-1092A>C (n.1617-1092A>C)
6g.150839943A>GCA366050715PLEKHG1c.3205A>G (p.Arg1069Gly)
c.1158-1092A>G (n.1158-1092A>G)
c.3382A>G (p.Arg1128Gly)
c.3421A>G (p.Arg1141Gly)
c.3325A>G (p.Arg1109Gly)
c.3166A>G (p.Arg1056Gly)
c.3088A>G (p.Arg1030Gly)
c.1617-1092A>G (n.1617-1092A>G)
6g.150839943A>TCA366050716PLEKHG1c.3205A>T (p.Arg1069Trp)
c.1158-1092A>T (n.1158-1092A>T)
c.3382A>T (p.Arg1128Trp)
c.3421A>T (p.Arg1141Trp)
c.3325A>T (p.Arg1109Trp)
c.3166A>T (p.Arg1056Trp)
c.3088A>T (p.Arg1030Trp)
c.1617-1092A>T (n.1617-1092A>T)
6g.150839943_150839948delinsAGGTCTCA1672598763PLEKHG1c.3205_3210delinsAGGTCT (p.Arg1069=)
c.1158-1092_1158-1087delinsAGGTCT (n.1158-1092_1158-1087delinsAGGTCT)
c.3382_3387delinsAGGTCT (p.Arg1128=)
c.3421_3426delinsAGGTCT (p.Arg1141=)
c.3325_3330delinsAGGTCT (p.Arg1109=)
c.3166_3171delinsAGGTCT (p.Arg1056=)
c.3088_3093delinsAGGTCT (p.Arg1030=)
c.1617-1092_1617-1087delinsAGGTCT (n.1617-1092_1617-1087delinsAGGTCT)
6g.150839944G>ACA366050717PLEKHG1c.3206G>A (p.Arg1069Lys)
c.1158-1091G>A (n.1158-1091G>A)
c.3383G>A (p.Arg1128Lys)
c.3422G>A (p.Arg1141Lys)
c.3326G>A (p.Arg1109Lys)
c.3167G>A (p.Arg1056Lys)
c.3089G>A (p.Arg1030Lys)
c.1617-1091G>A (n.1617-1091G>A)
 gnomAD v4
6g.150839944G>CCA366050718PLEKHG1c.3206G>C (p.Arg1069Thr)
c.1158-1091G>C (n.1158-1091G>C)
c.3383G>C (p.Arg1128Thr)
c.3422G>C (p.Arg1141Thr)
c.3326G>C (p.Arg1109Thr)
c.3167G>C (p.Arg1056Thr)
c.3089G>C (p.Arg1030Thr)
c.1617-1091G>C (n.1617-1091G>C)
6g.150839944G>TCA366050719PLEKHG1c.3206G>T (p.Arg1069Met)
c.1158-1091G>T (n.1158-1091G>T)
c.3383G>T (p.Arg1128Met)
c.3422G>T (p.Arg1141Met)
c.3326G>T (p.Arg1109Met)
c.3167G>T (p.Arg1056Met)
c.3089G>T (p.Arg1030Met)
c.1617-1091G>T (n.1617-1091G>T)
6g.150839945_150839949delCA820771217PLEKHG1c.3207_3211del (p.Arg1069SerfsTer10)
c.1158-1090_1158-1086del (n.1158-1090_1158-1086del)
c.3384_3388del (p.Arg1128SerfsTer10)
c.3423_3427del (p.Arg1141SerfsTer10)
c.3327_3331del (p.Arg1109SerfsTer10)
c.3168_3172del (p.Arg1056SerfsTer10)
c.3090_3094del (p.Arg1030SerfsTer10)
c.1617-1090_1617-1086del (n.1617-1090_1617-1086del)
 dbSNP gnomAD v3 gnomAD v4
6g.150839945G>ACA4048114PLEKHG1c.3207G>A (p.Arg1069=)
c.1158-1090G>A (n.1158-1090G>A)
c.3384G>A (p.Arg1128=)
c.3423G>A (p.Arg1141=)
c.3327G>A (p.Arg1109=)
c.3168G>A (p.Arg1056=)
c.3090G>A (p.Arg1030=)
c.1617-1090G>A (n.1617-1090G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.150839945G>CCA366050721PLEKHG1c.3207G>C (p.Arg1069Ser)
c.1158-1090G>C (n.1158-1090G>C)
c.3384G>C (p.Arg1128Ser)
c.3423G>C (p.Arg1141Ser)
c.3327G>C (p.Arg1109Ser)
c.3168G>C (p.Arg1056Ser)
c.3090G>C (p.Arg1030Ser)
c.1617-1090G>C (n.1617-1090G>C)
6g.150839945G=CA1672598764PLEKHG1c.3207G= (p.Arg1069=)
c.1158-1090G= (n.1158-1090G=)
c.3384G= (p.Arg1128=)
c.3423G= (p.Arg1141=)
c.3327G= (p.Arg1109=)
c.3168G= (p.Arg1056=)
c.3090G= (p.Arg1030=)
c.1617-1090G= (n.1617-1090G=)
6g.150839945G>TCA366050720PLEKHG1c.3207G>T (p.Arg1069Ser)
c.1158-1090G>T (n.1158-1090G>T)
c.3384G>T (p.Arg1128Ser)
c.3423G>T (p.Arg1141Ser)
c.3327G>T (p.Arg1109Ser)
c.3168G>T (p.Arg1056Ser)
c.3090G>T (p.Arg1030Ser)
c.1617-1090G>T (n.1617-1090G>T)
6g.150839946T>ACA366050722PLEKHG1c.3208T>A (p.Ser1070Thr)
c.1158-1089T>A (n.1158-1089T>A)
c.3385T>A (p.Ser1129Thr)
c.3424T>A (p.Ser1142Thr)
c.3328T>A (p.Ser1110Thr)
c.3169T>A (p.Ser1057Thr)
c.3091T>A (p.Ser1031Thr)
c.1617-1089T>A (n.1617-1089T>A)
6g.150839946T>CCA366050723PLEKHG1c.3208T>C (p.Ser1070Pro)
c.1158-1089T>C (n.1158-1089T>C)
c.3385T>C (p.Ser1129Pro)
c.3424T>C (p.Ser1142Pro)
c.3328T>C (p.Ser1110Pro)
c.3169T>C (p.Ser1057Pro)
c.3091T>C (p.Ser1031Pro)
c.1617-1089T>C (n.1617-1089T>C)
6g.150839946T>GCA366050724PLEKHG1c.3208T>G (p.Ser1070Ala)
c.1158-1089T>G (n.1158-1089T>G)
c.3385T>G (p.Ser1129Ala)
c.3424T>G (p.Ser1142Ala)
c.3328T>G (p.Ser1110Ala)
c.3169T>G (p.Ser1057Ala)
c.3091T>G (p.Ser1031Ala)
c.1617-1089T>G (n.1617-1089T>G)
6g.150839947C>ACA366050725PLEKHG1c.3209C>A (p.Ser1070Tyr)
c.1158-1088C>A (n.1158-1088C>A)
c.3386C>A (p.Ser1129Tyr)
c.3425C>A (p.Ser1142Tyr)
c.3329C>A (p.Ser1110Tyr)
c.3170C>A (p.Ser1057Tyr)
c.3092C>A (p.Ser1031Tyr)
c.1617-1088C>A (n.1617-1088C>A)
6g.150839947C>GCA366050726PLEKHG1c.3209C>G (p.Ser1070Cys)
c.1158-1088C>G (n.1158-1088C>G)
c.3386C>G (p.Ser1129Cys)
c.3425C>G (p.Ser1142Cys)
c.3329C>G (p.Ser1110Cys)
c.3170C>G (p.Ser1057Cys)
c.3092C>G (p.Ser1031Cys)
c.1617-1088C>G (n.1617-1088C>G)
6g.150839947C>TCA366050727PLEKHG1c.3209C>T (p.Ser1070Phe)
c.1158-1088C>T (n.1158-1088C>T)
c.3386C>T (p.Ser1129Phe)
c.3425C>T (p.Ser1142Phe)
c.3329C>T (p.Ser1110Phe)
c.3170C>T (p.Ser1057Phe)
c.3092C>T (p.Ser1031Phe)
c.1617-1088C>T (n.1617-1088C>T)
6g.150839948T>ACA452725731PLEKHG1c.3210T>A (p.Ser1070=)
c.1158-1087T>A (n.1158-1087T>A)
c.3387T>A (p.Ser1129=)
c.3426T>A (p.Ser1142=)
c.3330T>A (p.Ser1110=)
c.3171T>A (p.Ser1057=)
c.3093T>A (p.Ser1031=)
c.1617-1087T>A (n.1617-1087T>A)
6g.150839948T>CCA452725733PLEKHG1c.3210T>C (p.Ser1070=)
c.1158-1087T>C (n.1158-1087T>C)
c.3387T>C (p.Ser1129=)
c.3426T>C (p.Ser1142=)
c.3330T>C (p.Ser1110=)
c.3171T>C (p.Ser1057=)
c.3093T>C (p.Ser1031=)
c.1617-1087T>C (n.1617-1087T>C)
6g.150839948T>GCA4048115PLEKHG1c.3210T>G (p.Ser1070=)
c.1158-1087T>G (n.1158-1087T>G)
c.3387T>G (p.Ser1129=)
c.3426T>G (p.Ser1142=)
c.3330T>G (p.Ser1110=)
c.3171T>G (p.Ser1057=)
c.3093T>G (p.Ser1031=)
c.1617-1087T>G (n.1617-1087T>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.150839948T=CA1672598765PLEKHG1c.3210T= (p.Ser1070=)
c.1158-1087T= (n.1158-1087T=)
c.3387T= (p.Ser1129=)
c.3426T= (p.Ser1142=)
c.3330T= (p.Ser1110=)
c.3171T= (p.Ser1057=)
c.3093T= (p.Ser1031=)
c.1617-1087T= (n.1617-1087T=)
6g.150839949G>ACA366050728PLEKHG1c.3211G>A (p.Val1071Met)
c.1158-1086G>A (n.1158-1086G>A)
c.3388G>A (p.Val1130Met)
c.3427G>A (p.Val1143Met)
c.3331G>A (p.Val1111Met)
c.3172G>A (p.Val1058Met)
c.3094G>A (p.Val1032Met)
c.1617-1086G>A (n.1617-1086G>A)
6g.150839949G>CCA366050729PLEKHG1c.3211G>C (p.Val1071Leu)
c.1158-1086G>C (n.1158-1086G>C)
c.3388G>C (p.Val1130Leu)
c.3427G>C (p.Val1143Leu)
c.3331G>C (p.Val1111Leu)
c.3172G>C (p.Val1058Leu)
c.3094G>C (p.Val1032Leu)
c.1617-1086G>C (n.1617-1086G>C)
6g.150839949G>TCA366050730PLEKHG1c.3211G>T (p.Val1071Leu)
c.1158-1086G>T (n.1158-1086G>T)
c.3388G>T (p.Val1130Leu)
c.3427G>T (p.Val1143Leu)
c.3331G>T (p.Val1111Leu)
c.3172G>T (p.Val1058Leu)
c.3094G>T (p.Val1032Leu)
c.1617-1086G>T (n.1617-1086G>T)
6g.150839950T>ACA366050732PLEKHG1c.3212T>A (p.Val1071Glu)
c.1158-1085T>A (n.1158-1085T>A)
c.3389T>A (p.Val1130Glu)
c.3428T>A (p.Val1143Glu)
c.3332T>A (p.Val1111Glu)
c.3173T>A (p.Val1058Glu)
c.3095T>A (p.Val1032Glu)
c.1617-1085T>A (n.1617-1085T>A)
6g.150839950T>CCA4048116PLEKHG1c.3212T>C (p.Val1071Ala)
c.1158-1085T>C (n.1158-1085T>C)
c.3389T>C (p.Val1130Ala)
c.3428T>C (p.Val1143Ala)
c.3332T>C (p.Val1111Ala)
c.3173T>C (p.Val1058Ala)
c.3095T>C (p.Val1032Ala)
c.1617-1085T>C (n.1617-1085T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.150839950T>GCA366050731PLEKHG1c.3212T>G (p.Val1071Gly)
c.1158-1085T>G (n.1158-1085T>G)
c.3389T>G (p.Val1130Gly)
c.3428T>G (p.Val1143Gly)
c.3332T>G (p.Val1111Gly)
c.3173T>G (p.Val1058Gly)
c.3095T>G (p.Val1032Gly)
c.1617-1085T>G (n.1617-1085T>G)
6g.150839950T=CA1672598766PLEKHG1c.3212T= (p.Val1071=)
c.1158-1085T= (n.1158-1085T=)
c.3389T= (p.Val1130=)
c.3428T= (p.Val1143=)
c.3332T= (p.Val1111=)
c.3173T= (p.Val1058=)
c.3095T= (p.Val1032=)
c.1617-1085T= (n.1617-1085T=)
6g.150839951G>ACA452725739PLEKHG1c.3213G>A (p.Val1071=)
c.1158-1084G>A (n.1158-1084G>A)
c.3390G>A (p.Val1130=)
c.3429G>A (p.Val1143=)
c.3333G>A (p.Val1111=)
c.3174G>A (p.Val1058=)
c.3096G>A (p.Val1032=)
c.1617-1084G>A (n.1617-1084G>A)
6g.150839951G>CCA452725740PLEKHG1c.3213G>C (p.Val1071=)
c.1158-1084G>C (n.1158-1084G>C)
c.3390G>C (p.Val1130=)
c.3429G>C (p.Val1143=)
c.3333G>C (p.Val1111=)
c.3174G>C (p.Val1058=)
c.3096G>C (p.Val1032=)
c.1617-1084G>C (n.1617-1084G>C)
6g.150839951G>TCA452725741PLEKHG1c.3213G>T (p.Val1071=)
c.1158-1084G>T (n.1158-1084G>T)
c.3390G>T (p.Val1130=)
c.3429G>T (p.Val1143=)
c.3333G>T (p.Val1111=)
c.3174G>T (p.Val1058=)
c.3096G>T (p.Val1032=)
c.1617-1084G>T (n.1617-1084G>T)
6g.150839952T>ACA366050733PLEKHG1c.3214T>A (p.Ser1072Thr)
c.1158-1083T>A (n.1158-1083T>A)
c.3391T>A (p.Ser1131Thr)
c.3430T>A (p.Ser1144Thr)
c.3334T>A (p.Ser1112Thr)
c.3175T>A (p.Ser1059Thr)
c.3097T>A (p.Ser1033Thr)
c.1617-1083T>A (n.1617-1083T>A)
6g.150839952T>CCA366050734PLEKHG1c.3214T>C (p.Ser1072Pro)
c.1158-1083T>C (n.1158-1083T>C)
c.3391T>C (p.Ser1131Pro)
c.3430T>C (p.Ser1144Pro)
c.3334T>C (p.Ser1112Pro)
c.3175T>C (p.Ser1059Pro)
c.3097T>C (p.Ser1033Pro)
c.1617-1083T>C (n.1617-1083T>C)
 dbSNP gnomAD v2
6g.150839952T>GCA366050735PLEKHG1c.3214T>G (p.Ser1072Ala)
c.1158-1083T>G (n.1158-1083T>G)
c.3391T>G (p.Ser1131Ala)
c.3430T>G (p.Ser1144Ala)
c.3334T>G (p.Ser1112Ala)
c.3175T>G (p.Ser1059Ala)
c.3097T>G (p.Ser1033Ala)
c.1617-1083T>G (n.1617-1083T>G)
6g.150839952T=CA1672598767PLEKHG1c.3214T= (p.Ser1072=)
c.1158-1083T= (n.1158-1083T=)
c.3391T= (p.Ser1131=)
c.3430T= (p.Ser1144=)
c.3334T= (p.Ser1112=)
c.3175T= (p.Ser1059=)
c.3097T= (p.Ser1033=)
c.1617-1083T= (n.1617-1083T=)
6g.150839953C>ACA366050736PLEKHG1c.3215C>A (p.Ser1072Ter)
c.1158-1082C>A (n.1158-1082C>A)
c.3392C>A (p.Ser1131Ter)
c.3431C>A (p.Ser1144Ter)
c.3335C>A (p.Ser1112Ter)
c.3176C>A (p.Ser1059Ter)
c.3098C>A (p.Ser1033Ter)
c.1617-1082C>A (n.1617-1082C>A)
6g.150839953C=CA1672598768PLEKHG1c.3215C= (p.Ser1072=)
c.1158-1082C= (n.1158-1082C=)
c.3392C= (p.Ser1131=)
c.3431C= (p.Ser1144=)
c.3335C= (p.Ser1112=)
c.3176C= (p.Ser1059=)
c.3098C= (p.Ser1033=)
c.1617-1082C= (n.1617-1082C=)
6g.150839953C>GCA366050737PLEKHG1c.3215C>G (p.Ser1072Ter)
c.1158-1082C>G (n.1158-1082C>G)
c.3392C>G (p.Ser1131Ter)
c.3431C>G (p.Ser1144Ter)
c.3335C>G (p.Ser1112Ter)
c.3176C>G (p.Ser1059Ter)
c.3098C>G (p.Ser1033Ter)
c.1617-1082C>G (n.1617-1082C>G)
6g.150839953C>TCA4048117PLEKHG1c.3215C>T (p.Ser1072Leu)
c.1158-1082C>T (n.1158-1082C>T)
c.3392C>T (p.Ser1131Leu)
c.3431C>T (p.Ser1144Leu)
c.3335C>T (p.Ser1112Leu)
c.3176C>T (p.Ser1059Leu)
c.3098C>T (p.Ser1033Leu)
c.1617-1082C>T (n.1617-1082C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.150839954A>CCA452725745PLEKHG1c.3216A>C (p.Ser1072=)
c.1158-1081A>C (n.1158-1081A>C)
c.3393A>C (p.Ser1131=)
c.3432A>C (p.Ser1144=)
c.3336A>C (p.Ser1112=)
c.3177A>C (p.Ser1059=)
c.3099A>C (p.Ser1033=)
c.1617-1081A>C (n.1617-1081A>C)
6g.150839954A>GCA452725746PLEKHG1c.3216A>G (p.Ser1072=)
c.1158-1081A>G (n.1158-1081A>G)
c.3393A>G (p.Ser1131=)
c.3432A>G (p.Ser1144=)
c.3336A>G (p.Ser1112=)
c.3177A>G (p.Ser1059=)
c.3099A>G (p.Ser1033=)
c.1617-1081A>G (n.1617-1081A>G)
6g.150839954A>TCA452725747PLEKHG1c.3216A>T (p.Ser1072=)
c.1158-1081A>T (n.1158-1081A>T)
c.3393A>T (p.Ser1131=)
c.3432A>T (p.Ser1144=)
c.3336A>T (p.Ser1112=)
c.3177A>T (p.Ser1059=)
c.3099A>T (p.Ser1033=)
c.1617-1081A>T (n.1617-1081A>T)
6g.150839955C>ACA366050738PLEKHG1c.3217C>A (p.Pro1073Thr)
c.1158-1080C>A (n.1158-1080C>A)
c.3394C>A (p.Pro1132Thr)
c.3433C>A (p.Pro1145Thr)
c.3337C>A (p.Pro1113Thr)
c.3178C>A (p.Pro1060Thr)
c.3100C>A (p.Pro1034Thr)
c.1617-1080C>A (n.1617-1080C>A)
6g.150839955C>GCA366050739PLEKHG1c.3217C>G (p.Pro1073Ala)
c.1158-1080C>G (n.1158-1080C>G)
c.3394C>G (p.Pro1132Ala)
c.3433C>G (p.Pro1145Ala)
c.3337C>G (p.Pro1113Ala)
c.3178C>G (p.Pro1060Ala)
c.3100C>G (p.Pro1034Ala)
c.1617-1080C>G (n.1617-1080C>G)
6g.150839955C>TCA366050740PLEKHG1c.3217C>T (p.Pro1073Ser)
c.1158-1080C>T (n.1158-1080C>T)
c.3394C>T (p.Pro1132Ser)
c.3433C>T (p.Pro1145Ser)
c.3337C>T (p.Pro1113Ser)
c.3178C>T (p.Pro1060Ser)
c.3100C>T (p.Pro1034Ser)
c.1617-1080C>T (n.1617-1080C>T)
6g.150839956C>ACA366050741PLEKHG1c.3218C>A (p.Pro1073His)
c.1158-1079C>A (n.1158-1079C>A)
c.3395C>A (p.Pro1132His)
c.3434C>A (p.Pro1145His)
c.3338C>A (p.Pro1113His)
c.3179C>A (p.Pro1060His)
c.3101C>A (p.Pro1034His)
c.1617-1079C>A (n.1617-1079C>A)
6g.150839956C>GCA366050742PLEKHG1c.3218C>G (p.Pro1073Arg)
c.1158-1079C>G (n.1158-1079C>G)
c.3395C>G (p.Pro1132Arg)
c.3434C>G (p.Pro1145Arg)
c.3338C>G (p.Pro1113Arg)
c.3179C>G (p.Pro1060Arg)
c.3101C>G (p.Pro1034Arg)
c.1617-1079C>G (n.1617-1079C>G)
6g.150839956C>TCA366050743PLEKHG1c.3218C>T (p.Pro1073Leu)
c.1158-1079C>T (n.1158-1079C>T)
c.3395C>T (p.Pro1132Leu)
c.3434C>T (p.Pro1145Leu)
c.3338C>T (p.Pro1113Leu)
c.3179C>T (p.Pro1060Leu)
c.3101C>T (p.Pro1034Leu)
c.1617-1079C>T (n.1617-1079C>T)
 gnomAD v4 COSMIC
6g.150839957T>ACA452725761PLEKHG1c.3219T>A (p.Pro1073=)
c.1158-1078T>A (n.1158-1078T>A)
c.3396T>A (p.Pro1132=)
c.3435T>A (p.Pro1145=)
c.3339T>A (p.Pro1113=)
c.3180T>A (p.Pro1060=)
c.3102T>A (p.Pro1034=)
c.1617-1078T>A (n.1617-1078T>A)
6g.150839957T>CCA452725760PLEKHG1c.3219T>C (p.Pro1073=)
c.1158-1078T>C (n.1158-1078T>C)
c.3396T>C (p.Pro1132=)
c.3435T>C (p.Pro1145=)
c.3339T>C (p.Pro1113=)
c.3180T>C (p.Pro1060=)
c.3102T>C (p.Pro1034=)
c.1617-1078T>C (n.1617-1078T>C)
6g.150839957T>GCA4048118PLEKHG1c.3219T>G (p.Pro1073=)
c.1158-1078T>G (n.1158-1078T>G)
c.3396T>G (p.Pro1132=)
c.3435T>G (p.Pro1145=)
c.3339T>G (p.Pro1113=)
c.3180T>G (p.Pro1060=)
c.3102T>G (p.Pro1034=)
c.1617-1078T>G (n.1617-1078T>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.150839957T=CA1672598769PLEKHG1c.3219T= (p.Pro1073=)
c.1158-1078T= (n.1158-1078T=)
c.3396T= (p.Pro1132=)
c.3435T= (p.Pro1145=)
c.3339T= (p.Pro1113=)
c.3180T= (p.Pro1060=)
c.3102T= (p.Pro1034=)
c.1617-1078T= (n.1617-1078T=)
6g.150839958T>ACA366050745PLEKHG1c.3220T>A (p.Ser1074Thr)
c.1158-1077T>A (n.1158-1077T>A)
c.3397T>A (p.Ser1133Thr)
c.3436T>A (p.Ser1146Thr)
c.3340T>A (p.Ser1114Thr)
c.3181T>A (p.Ser1061Thr)
c.3103T>A (p.Ser1035Thr)
c.1617-1077T>A (n.1617-1077T>A)
6g.150839958T>CCA4048119PLEKHG1c.3220T>C (p.Ser1074Pro)
c.1158-1077T>C (n.1158-1077T>C)
c.3397T>C (p.Ser1133Pro)
c.3436T>C (p.Ser1146Pro)
c.3340T>C (p.Ser1114Pro)
c.3181T>C (p.Ser1061Pro)
c.3103T>C (p.Ser1035Pro)
c.1617-1077T>C (n.1617-1077T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.150839958T>GCA366050744PLEKHG1c.3220T>G (p.Ser1074Ala)
c.1158-1077T>G (n.1158-1077T>G)
c.3397T>G (p.Ser1133Ala)
c.3436T>G (p.Ser1146Ala)
c.3340T>G (p.Ser1114Ala)
c.3181T>G (p.Ser1061Ala)
c.3103T>G (p.Ser1035Ala)
c.1617-1077T>G (n.1617-1077T>G)
6g.150839958T=CA1672598770PLEKHG1c.3220T= (p.Ser1074=)
c.1158-1077T= (n.1158-1077T=)
c.3397T= (p.Ser1133=)
c.3436T= (p.Ser1146=)
c.3340T= (p.Ser1114=)
c.3181T= (p.Ser1061=)
c.3103T= (p.Ser1035=)
c.1617-1077T= (n.1617-1077T=)
6g.150839959C>ACA366050746PLEKHG1c.3221C>A (p.Ser1074Tyr)
c.1158-1076C>A (n.1158-1076C>A)
c.3398C>A (p.Ser1133Tyr)
c.3437C>A (p.Ser1146Tyr)
c.3341C>A (p.Ser1114Tyr)
c.3182C>A (p.Ser1061Tyr)
c.3104C>A (p.Ser1035Tyr)
c.1617-1076C>A (n.1617-1076C>A)
6g.150839959C>GCA366050747PLEKHG1c.3221C>G (p.Ser1074Cys)
c.1158-1076C>G (n.1158-1076C>G)
c.3398C>G (p.Ser1133Cys)
c.3437C>G (p.Ser1146Cys)
c.3341C>G (p.Ser1114Cys)
c.3182C>G (p.Ser1061Cys)
c.3104C>G (p.Ser1035Cys)
c.1617-1076C>G (n.1617-1076C>G)
6g.150839959C>TCA366050748PLEKHG1c.3221C>T (p.Ser1074Phe)
c.1158-1076C>T (n.1158-1076C>T)
c.3398C>T (p.Ser1133Phe)
c.3437C>T (p.Ser1146Phe)
c.3341C>T (p.Ser1114Phe)
c.3182C>T (p.Ser1061Phe)
c.3104C>T (p.Ser1035Phe)
c.1617-1076C>T (n.1617-1076C>T)
6g.150839960C>ACA452725774PLEKHG1c.3222C>A (p.Ser1074=)
c.1158-1075C>A (n.1158-1075C>A)
c.3399C>A (p.Ser1133=)
c.3438C>A (p.Ser1146=)
c.3342C>A (p.Ser1114=)
c.3183C>A (p.Ser1061=)
c.3105C>A (p.Ser1035=)
c.1617-1075C>A (n.1617-1075C>A)
6g.150839960C=CA1672598771PLEKHG1c.3222C= (p.Ser1074=)
c.1158-1075C= (n.1158-1075C=)
c.3399C= (p.Ser1133=)
c.3438C= (p.Ser1146=)
c.3342C= (p.Ser1114=)
c.3183C= (p.Ser1061=)
c.3105C= (p.Ser1035=)
c.1617-1075C= (n.1617-1075C=)
6g.150839960C>GCA452725772PLEKHG1c.3222C>G (p.Ser1074=)
c.1158-1075C>G (n.1158-1075C>G)
c.3399C>G (p.Ser1133=)
c.3438C>G (p.Ser1146=)
c.3342C>G (p.Ser1114=)
c.3183C>G (p.Ser1061=)
c.3105C>G (p.Ser1035=)
c.1617-1075C>G (n.1617-1075C>G)
6g.150839960C>TCA452725771PLEKHG1c.3222C>T (p.Ser1074=)
c.1158-1075C>T (n.1158-1075C>T)
c.3399C>T (p.Ser1133=)
c.3438C>T (p.Ser1146=)
c.3342C>T (p.Ser1114=)
c.3183C>T (p.Ser1061=)
c.3105C>T (p.Ser1035=)
c.1617-1075C>T (n.1617-1075C>T)
 dbSNP gnomAD v2 gnomAD v4
6g.150839961C>ACA366050749PLEKHG1c.3223C>A (p.Gln1075Lys)
c.1158-1074C>A (n.1158-1074C>A)
c.3400C>A (p.Gln1134Lys)
c.3439C>A (p.Gln1147Lys)
c.3343C>A (p.Gln1115Lys)
c.3184C>A (p.Gln1062Lys)
c.3106C>A (p.Gln1036Lys)
c.1617-1074C>A (n.1617-1074C>A)
6g.150839961C>GCA366050750PLEKHG1c.3223C>G (p.Gln1075Glu)
c.1158-1074C>G (n.1158-1074C>G)
c.3400C>G (p.Gln1134Glu)
c.3439C>G (p.Gln1147Glu)
c.3343C>G (p.Gln1115Glu)
c.3184C>G (p.Gln1062Glu)
c.3106C>G (p.Gln1036Glu)
c.1617-1074C>G (n.1617-1074C>G)
6g.150839961C>TCA366050751PLEKHG1c.3223C>T (p.Gln1075Ter)
c.1158-1074C>T (n.1158-1074C>T)
c.3400C>T (p.Gln1134Ter)
c.3439C>T (p.Gln1147Ter)
c.3343C>T (p.Gln1115Ter)
c.3184C>T (p.Gln1062Ter)
c.3106C>T (p.Gln1036Ter)
c.1617-1074C>T (n.1617-1074C>T)
6g.150839962A>CCA366050752PLEKHG1c.3224A>C (p.Gln1075Pro)
c.1158-1073A>C (n.1158-1073A>C)
c.3401A>C (p.Gln1134Pro)
c.3440A>C (p.Gln1147Pro)
c.3344A>C (p.Gln1115Pro)
c.3185A>C (p.Gln1062Pro)
c.3107A>C (p.Gln1036Pro)
c.1617-1073A>C (n.1617-1073A>C)
 gnomAD v4
6g.150839962A>GCA366050753PLEKHG1c.3224A>G (p.Gln1075Arg)
c.1158-1073A>G (n.1158-1073A>G)
c.3401A>G (p.Gln1134Arg)
c.3440A>G (p.Gln1147Arg)
c.3344A>G (p.Gln1115Arg)
c.3185A>G (p.Gln1062Arg)
c.3107A>G (p.Gln1036Arg)
c.1617-1073A>G (n.1617-1073A>G)
6g.150839962A>TCA366050754PLEKHG1c.3224A>T (p.Gln1075Leu)
c.1158-1073A>T (n.1158-1073A>T)
c.3401A>T (p.Gln1134Leu)
c.3440A>T (p.Gln1147Leu)
c.3344A>T (p.Gln1115Leu)
c.3185A>T (p.Gln1062Leu)
c.3107A>T (p.Gln1036Leu)
c.1617-1073A>T (n.1617-1073A>T)
6g.150839963G>ACA452725781PLEKHG1c.3225G>A (p.Gln1075=)
c.1158-1072G>A (n.1158-1072G>A)
c.3402G>A (p.Gln1134=)
c.3441G>A (p.Gln1147=)
c.3345G>A (p.Gln1115=)
c.3186G>A (p.Gln1062=)
c.3108G>A (p.Gln1036=)
c.1617-1072G>A (n.1617-1072G>A)
6g.150839963G>CCA366050755PLEKHG1c.3225G>C (p.Gln1075His)
c.1158-1072G>C (n.1158-1072G>C)
c.3402G>C (p.Gln1134His)
c.3441G>C (p.Gln1147His)
c.3345G>C (p.Gln1115His)
c.3186G>C (p.Gln1062His)
c.3108G>C (p.Gln1036His)
c.1617-1072G>C (n.1617-1072G>C)
 gnomAD v4
6g.150839963G>TCA366050756PLEKHG1c.3225G>T (p.Gln1075His)
c.1158-1072G>T (n.1158-1072G>T)
c.3402G>T (p.Gln1134His)
c.3441G>T (p.Gln1147His)
c.3345G>T (p.Gln1115His)
c.3186G>T (p.Gln1062His)
c.3108G>T (p.Gln1036His)
c.1617-1072G>T (n.1617-1072G>T)
6g.150839964G>ACA366050757PLEKHG1c.3226G>A (p.Val1076Ile)
c.1158-1071G>A (n.1158-1071G>A)
c.3403G>A (p.Val1135Ile)
c.3442G>A (p.Val1148Ile)
c.3346G>A (p.Val1116Ile)
c.3187G>A (p.Val1063Ile)
c.3109G>A (p.Val1037Ile)
c.1617-1071G>A (n.1617-1071G>A)
 dbSNP gnomAD v4
6g.150839964G>CCA366050758PLEKHG1c.3226G>C (p.Val1076Leu)
c.1158-1071G>C (n.1158-1071G>C)
c.3403G>C (p.Val1135Leu)
c.3442G>C (p.Val1148Leu)
c.3346G>C (p.Val1116Leu)
c.3187G>C (p.Val1063Leu)
c.3109G>C (p.Val1037Leu)
c.1617-1071G>C (n.1617-1071G>C)
6g.150839964G=CA1672598772PLEKHG1c.3226G= (p.Val1076=)
c.1158-1071G= (n.1158-1071G=)
c.3403G= (p.Val1135=)
c.3442G= (p.Val1148=)
c.3346G= (p.Val1116=)
c.3187G= (p.Val1063=)
c.3109G= (p.Val1037=)
c.1617-1071G= (n.1617-1071G=)
6g.150839964G>TCA366050759PLEKHG1c.3226G>T (p.Val1076Phe)
c.1158-1071G>T (n.1158-1071G>T)
c.3403G>T (p.Val1135Phe)
c.3442G>T (p.Val1148Phe)
c.3346G>T (p.Val1116Phe)
c.3187G>T (p.Val1063Phe)
c.3109G>T (p.Val1037Phe)
c.1617-1071G>T (n.1617-1071G>T)
6g.150839965T>ACA366050761PLEKHG1c.3227T>A (p.Val1076Asp)
c.1158-1070T>A (n.1158-1070T>A)
c.3404T>A (p.Val1135Asp)
c.3443T>A (p.Val1148Asp)
c.3347T>A (p.Val1116Asp)
c.3188T>A (p.Val1063Asp)
c.3110T>A (p.Val1037Asp)
c.1617-1070T>A (n.1617-1070T>A)
6g.150839965T>CCA366050762PLEKHG1c.3227T>C (p.Val1076Ala)
c.1158-1070T>C (n.1158-1070T>C)
c.3404T>C (p.Val1135Ala)
c.3443T>C (p.Val1148Ala)
c.3347T>C (p.Val1116Ala)
c.3188T>C (p.Val1063Ala)
c.3110T>C (p.Val1037Ala)
c.1617-1070T>C (n.1617-1070T>C)
6g.150839965T>GCA366050760PLEKHG1c.3227T>G (p.Val1076Gly)
c.1158-1070T>G (n.1158-1070T>G)
c.3404T>G (p.Val1135Gly)
c.3443T>G (p.Val1148Gly)
c.3347T>G (p.Val1116Gly)
c.3188T>G (p.Val1063Gly)
c.3110T>G (p.Val1037Gly)
c.1617-1070T>G (n.1617-1070T>G)
 gnomAD v4
6g.150839966C>ACA452725784PLEKHG1c.3228C>A (p.Val1076=)
c.1158-1069C>A (n.1158-1069C>A)
c.3405C>A (p.Val1135=)
c.3444C>A (p.Val1148=)
c.3348C>A (p.Val1116=)
c.3189C>A (p.Val1063=)
c.3111C>A (p.Val1037=)
c.1617-1069C>A (n.1617-1069C>A)
6g.150839966C=CA1672598773PLEKHG1c.3228C= (p.Val1076=)
c.1158-1069C= (n.1158-1069C=)
c.3405C= (p.Val1135=)
c.3444C= (p.Val1148=)
c.3348C= (p.Val1116=)
c.3189C= (p.Val1063=)
c.3111C= (p.Val1037=)
c.1617-1069C= (n.1617-1069C=)
6g.150839966C>GCA452725785PLEKHG1c.3228C>G (p.Val1076=)
c.1158-1069C>G (n.1158-1069C>G)
c.3405C>G (p.Val1135=)
c.3444C>G (p.Val1148=)
c.3348C>G (p.Val1116=)
c.3189C>G (p.Val1063=)
c.3111C>G (p.Val1037=)
c.1617-1069C>G (n.1617-1069C>G)
6g.150839966C>TCA452725786PLEKHG1c.3228C>T (p.Val1076=)
c.1158-1069C>T (n.1158-1069C>T)
c.3405C>T (p.Val1135=)
c.3444C>T (p.Val1148=)
c.3348C>T (p.Val1116=)
c.3189C>T (p.Val1063=)
c.3111C>T (p.Val1037=)
c.1617-1069C>T (n.1617-1069C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.150839967C>ACA366050763PLEKHG1c.3229C>A (p.His1077Asn)
c.1158-1068C>A (n.1158-1068C>A)
c.3406C>A (p.His1136Asn)
c.3445C>A (p.His1149Asn)
c.3349C>A (p.His1117Asn)
c.3190C>A (p.His1064Asn)
c.3112C>A (p.His1038Asn)
c.1617-1068C>A (n.1617-1068C>A)
6g.150839967C>GCA366050765PLEKHG1c.3229C>G (p.His1077Asp)
c.1158-1068C>G (n.1158-1068C>G)
c.3406C>G (p.His1136Asp)
c.3445C>G (p.His1149Asp)
c.3349C>G (p.His1117Asp)
c.3190C>G (p.His1064Asp)
c.3112C>G (p.His1038Asp)
c.1617-1068C>G (n.1617-1068C>G)
6g.150839967C>TCA366050764PLEKHG1c.3229C>T (p.His1077Tyr)
c.1158-1068C>T (n.1158-1068C>T)
c.3406C>T (p.His1136Tyr)
c.3445C>T (p.His1149Tyr)
c.3349C>T (p.His1117Tyr)
c.3190C>T (p.His1064Tyr)
c.3112C>T (p.His1038Tyr)
c.1617-1068C>T (n.1617-1068C>T)
6g.150839968A>CCA366050766PLEKHG1c.3230A>C (p.His1077Pro)
c.1158-1067A>C (n.1158-1067A>C)
c.3407A>C (p.His1136Pro)
c.3446A>C (p.His1149Pro)
c.3350A>C (p.His1117Pro)
c.3191A>C (p.His1064Pro)
c.3113A>C (p.His1038Pro)
c.1617-1067A>C (n.1617-1067A>C)
6g.150839968A>GCA366050768PLEKHG1c.3230A>G (p.His1077Arg)
c.1158-1067A>G (n.1158-1067A>G)
c.3407A>G (p.His1136Arg)
c.3446A>G (p.His1149Arg)
c.3350A>G (p.His1117Arg)
c.3191A>G (p.His1064Arg)
c.3113A>G (p.His1038Arg)
c.1617-1067A>G (n.1617-1067A>G)
6g.150839968A>TCA366050767PLEKHG1c.3230A>T (p.His1077Leu)
c.1158-1067A>T (n.1158-1067A>T)
c.3407A>T (p.His1136Leu)
c.3446A>T (p.His1149Leu)
c.3350A>T (p.His1117Leu)
c.3191A>T (p.His1064Leu)
c.3113A>T (p.His1038Leu)
c.1617-1067A>T (n.1617-1067A>T)
6g.150839969C>ACA366050769PLEKHG1c.3231C>A (p.His1077Gln)
c.1158-1066C>A (n.1158-1066C>A)
c.3408C>A (p.His1136Gln)
c.3447C>A (p.His1149Gln)
c.3351C>A (p.His1117Gln)
c.3192C>A (p.His1064Gln)
c.3114C>A (p.His1038Gln)
c.1617-1066C>A (n.1617-1066C>A)
6g.150839969C>GCA366050770PLEKHG1c.3231C>G (p.His1077Gln)
c.1158-1066C>G (n.1158-1066C>G)
c.3408C>G (p.His1136Gln)
c.3447C>G (p.His1149Gln)
c.3351C>G (p.His1117Gln)
c.3192C>G (p.His1064Gln)
c.3114C>G (p.His1038Gln)
c.1617-1066C>G (n.1617-1066C>G)
6g.150839969C>TCA452725793PLEKHG1c.3231C>T (p.His1077=)
c.1158-1066C>T (n.1158-1066C>T)
c.3408C>T (p.His1136=)
c.3447C>T (p.His1149=)
c.3351C>T (p.His1117=)
c.3192C>T (p.His1064=)
c.3114C>T (p.His1038=)
c.1617-1066C>T (n.1617-1066C>T)
6g.150839970C>ACA366050771PLEKHG1c.3232C>A (p.His1078Asn)
c.1158-1065C>A (n.1158-1065C>A)
c.3409C>A (p.His1137Asn)
c.3448C>A (p.His1150Asn)
c.3352C>A (p.His1118Asn)
c.3193C>A (p.His1065Asn)
c.3115C>A (p.His1039Asn)
c.1617-1065C>A (n.1617-1065C>A)
6g.150839970C=CA1672598774PLEKHG1c.3232C= (p.His1078=)
c.1158-1065C= (n.1158-1065C=)
c.3409C= (p.His1137=)
c.3448C= (p.His1150=)
c.3352C= (p.His1118=)
c.3193C= (p.His1065=)
c.3115C= (p.His1039=)
c.1617-1065C= (n.1617-1065C=)
6g.150839970C>GCA366050772PLEKHG1c.3232C>G (p.His1078Asp)
c.1158-1065C>G (n.1158-1065C>G)
c.3409C>G (p.His1137Asp)
c.3448C>G (p.His1150Asp)
c.3352C>G (p.His1118Asp)
c.3193C>G (p.His1065Asp)
c.3115C>G (p.His1039Asp)
c.1617-1065C>G (n.1617-1065C>G)
 dbSNP gnomAD v2 gnomAD v4
6g.150839970C>TCA366050773PLEKHG1c.3232C>T (p.His1078Tyr)
c.1158-1065C>T (n.1158-1065C>T)
c.3409C>T (p.His1137Tyr)
c.3448C>T (p.His1150Tyr)
c.3352C>T (p.His1118Tyr)
c.3193C>T (p.His1065Tyr)
c.3115C>T (p.His1039Tyr)
c.1617-1065C>T (n.1617-1065C>T)
 gnomAD v4 COSMIC
6g.150839971A=CA1672598775PLEKHG1c.3233A= (p.His1078=)
c.1158-1064A= (n.1158-1064A=)
c.3410A= (p.His1137=)
c.3449A= (p.His1150=)
c.3353A= (p.His1118=)
c.3194A= (p.His1065=)
c.3116A= (p.His1039=)
c.1617-1064A= (n.1617-1064A=)
6g.150839971A>CCA366050774PLEKHG1c.3233A>C (p.His1078Pro)
c.1158-1064A>C (n.1158-1064A>C)
c.3410A>C (p.His1137Pro)
c.3449A>C (p.His1150Pro)
c.3353A>C (p.His1118Pro)
c.3194A>C (p.His1065Pro)
c.3116A>C (p.His1039Pro)
c.1617-1064A>C (n.1617-1064A>C)
6g.150839971A>GCA4048120PLEKHG1c.3233A>G (p.His1078Arg)
c.1158-1064A>G (n.1158-1064A>G)
c.3410A>G (p.His1137Arg)
c.3449A>G (p.His1150Arg)
c.3353A>G (p.His1118Arg)
c.3194A>G (p.His1065Arg)
c.3116A>G (p.His1039Arg)
c.1617-1064A>G (n.1617-1064A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.150839971A>TCA366050775PLEKHG1c.3233A>T (p.His1078Leu)
c.1158-1064A>T (n.1158-1064A>T)
c.3410A>T (p.His1137Leu)
c.3449A>T (p.His1150Leu)
c.3353A>T (p.His1118Leu)
c.3194A>T (p.His1065Leu)
c.3116A>T (p.His1039Leu)
c.1617-1064A>T (n.1617-1064A>T)
6g.150839972T>ACA366050776PLEKHG1c.3234T>A (p.His1078Gln)
c.1158-1063T>A (n.1158-1063T>A)
c.3411T>A (p.His1137Gln)
c.3450T>A (p.His1150Gln)
c.3354T>A (p.His1118Gln)
c.3195T>A (p.His1065Gln)
c.3117T>A (p.His1039Gln)
c.1617-1063T>A (n.1617-1063T>A)
6g.150839972T>CCA4048121PLEKHG1c.3234T>C (p.His1078=)
c.1158-1063T>C (n.1158-1063T>C)
c.3411T>C (p.His1137=)
c.3450T>C (p.His1150=)
c.3354T>C (p.His1118=)
c.3195T>C (p.His1065=)
c.3117T>C (p.His1039=)
c.1617-1063T>C (n.1617-1063T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.150839972T>GCA366050777PLEKHG1c.3234T>G (p.His1078Gln)
c.1158-1063T>G (n.1158-1063T>G)
c.3411T>G (p.His1137Gln)
c.3450T>G (p.His1150Gln)
c.3354T>G (p.His1118Gln)
c.3195T>G (p.His1065Gln)
c.3117T>G (p.His1039Gln)
c.1617-1063T>G (n.1617-1063T>G)
6g.150839972T=CA1672598776PLEKHG1c.3234T= (p.His1078=)
c.1158-1063T= (n.1158-1063T=)
c.3411T= (p.His1137=)
c.3450T= (p.His1150=)
c.3354T= (p.His1118=)
c.3195T= (p.His1065=)
c.3117T= (p.His1039=)
c.1617-1063T= (n.1617-1063T=)
6g.150839973G>ACA150073193PLEKHG1c.3235G>A (p.Gly1079Ser)
c.1158-1062G>A (n.1158-1062G>A)
c.3412G>A (p.Gly1138Ser)
c.3451G>A (p.Gly1151Ser)
c.3355G>A (p.Gly1119Ser)
c.3196G>A (p.Gly1066Ser)
c.3118G>A (p.Gly1040Ser)
c.1617-1062G>A (n.1617-1062G>A)
 dbSNP
6g.150839973G>CCA366050779PLEKHG1c.3235G>C (p.Gly1079Arg)
c.1158-1062G>C (n.1158-1062G>C)
c.3412G>C (p.Gly1138Arg)
c.3451G>C (p.Gly1151Arg)
c.3355G>C (p.Gly1119Arg)
c.3196G>C (p.Gly1066Arg)
c.3118G>C (p.Gly1040Arg)
c.1617-1062G>C (n.1617-1062G>C)
6g.150839973G=CA1672598777PLEKHG1c.3235G= (p.Gly1079=)
c.1158-1062G= (n.1158-1062G=)
c.3412G= (p.Gly1138=)
c.3451G= (p.Gly1151=)
c.3355G= (p.Gly1119=)
c.3196G= (p.Gly1066=)
c.3118G= (p.Gly1040=)
c.1617-1062G= (n.1617-1062G=)
6g.150839973G>TCA366050778PLEKHG1c.3235G>T (p.Gly1079Cys)
c.1158-1062G>T (n.1158-1062G>T)
c.3412G>T (p.Gly1138Cys)
c.3451G>T (p.Gly1151Cys)
c.3355G>T (p.Gly1119Cys)
c.3196G>T (p.Gly1066Cys)
c.3118G>T (p.Gly1040Cys)
c.1617-1062G>T (n.1617-1062G>T)
6g.150839974G>ACA366050780PLEKHG1c.3236G>A (p.Gly1079Asp)
c.1158-1061G>A (n.1158-1061G>A)
c.3413G>A (p.Gly1138Asp)
c.3452G>A (p.Gly1151Asp)
c.3356G>A (p.Gly1119Asp)
c.3197G>A (p.Gly1066Asp)
c.3119G>A (p.Gly1040Asp)
c.1617-1061G>A (n.1617-1061G>A)
 gnomAD v4
6g.150839974G>CCA366050781PLEKHG1c.3236G>C (p.Gly1079Ala)
c.1158-1061G>C (n.1158-1061G>C)
c.3413G>C (p.Gly1138Ala)
c.3452G>C (p.Gly1151Ala)
c.3356G>C (p.Gly1119Ala)
c.3197G>C (p.Gly1066Ala)
c.3119G>C (p.Gly1040Ala)
c.1617-1061G>C (n.1617-1061G>C)
6g.150839974G=CA1672598778PLEKHG1c.3236G= (p.Gly1079=)
c.1158-1061G= (n.1158-1061G=)
c.3413G= (p.Gly1138=)
c.3452G= (p.Gly1151=)
c.3356G= (p.Gly1119=)
c.3197G= (p.Gly1066=)
c.3119G= (p.Gly1040=)
c.1617-1061G= (n.1617-1061G=)
6g.150839974G>TCA366050782PLEKHG1c.3236G>T (p.Gly1079Val)
c.1158-1061G>T (n.1158-1061G>T)
c.3413G>T (p.Gly1138Val)
c.3452G>T (p.Gly1151Val)
c.3356G>T (p.Gly1119Val)
c.3197G>T (p.Gly1066Val)
c.3119G>T (p.Gly1040Val)
c.1617-1061G>T (n.1617-1061G>T)
 dbSNP gnomAD v2 gnomAD v4
6g.150839975T>ACA452725802PLEKHG1c.3237T>A (p.Gly1079=)
c.1158-1060T>A (n.1158-1060T>A)
c.3414T>A (p.Gly1138=)
c.3453T>A (p.Gly1151=)
c.3357T>A (p.Gly1119=)
c.3198T>A (p.Gly1066=)
c.3120T>A (p.Gly1040=)
c.1617-1060T>A (n.1617-1060T>A)
6g.150839975T>CCA452725803PLEKHG1c.3237T>C (p.Gly1079=)
c.1158-1060T>C (n.1158-1060T>C)
c.3414T>C (p.Gly1138=)
c.3453T>C (p.Gly1151=)
c.3357T>C (p.Gly1119=)
c.3198T>C (p.Gly1066=)
c.3120T>C (p.Gly1040=)
c.1617-1060T>C (n.1617-1060T>C)
 dbSNP gnomAD v2 gnomAD v4
6g.150839975T>GCA452725805PLEKHG1c.3237T>G (p.Gly1079=)
c.1158-1060T>G (n.1158-1060T>G)
c.3414T>G (p.Gly1138=)
c.3453T>G (p.Gly1151=)
c.3357T>G (p.Gly1119=)
c.3198T>G (p.Gly1066=)
c.3120T>G (p.Gly1040=)
c.1617-1060T>G (n.1617-1060T>G)
6g.150839975T=CA1672598779PLEKHG1c.3237T= (p.Gly1079=)
c.1158-1060T= (n.1158-1060T=)
c.3414T= (p.Gly1138=)
c.3453T= (p.Gly1151=)
c.3357T= (p.Gly1119=)
c.3198T= (p.Gly1066=)
c.3120T= (p.Gly1040=)
c.1617-1060T= (n.1617-1060T=)
6g.150839976A=CA1672598780PLEKHG1c.3238A= (p.Ser1080=)
c.1158-1059A= (n.1158-1059A=)
c.3415A= (p.Ser1139=)
c.3454A= (p.Ser1152=)
c.3358A= (p.Ser1120=)
c.3199A= (p.Ser1067=)
c.3121A= (p.Ser1041=)
c.1617-1059A= (n.1617-1059A=)
6g.150839976A>CCA366050783PLEKHG1c.3238A>C (p.Ser1080Arg)
c.1158-1059A>C (n.1158-1059A>C)
c.3415A>C (p.Ser1139Arg)
c.3454A>C (p.Ser1152Arg)
c.3358A>C (p.Ser1120Arg)
c.3199A>C (p.Ser1067Arg)
c.3121A>C (p.Ser1041Arg)
c.1617-1059A>C (n.1617-1059A>C)
6g.150839976A>GCA366050784PLEKHG1c.3238A>G (p.Ser1080Gly)
c.1158-1059A>G (n.1158-1059A>G)
c.3415A>G (p.Ser1139Gly)
c.3454A>G (p.Ser1152Gly)
c.3358A>G (p.Ser1120Gly)
c.3199A>G (p.Ser1067Gly)
c.3121A>G (p.Ser1041Gly)
c.1617-1059A>G (n.1617-1059A>G)
 dbSNP gnomAD v2 gnomAD v4
6g.150839976A>TCA366050785PLEKHG1c.3238A>T (p.Ser1080Cys)
c.1158-1059A>T (n.1158-1059A>T)
c.3415A>T (p.Ser1139Cys)
c.3454A>T (p.Ser1152Cys)
c.3358A>T (p.Ser1120Cys)
c.3199A>T (p.Ser1067Cys)
c.3121A>T (p.Ser1041Cys)
c.1617-1059A>T (n.1617-1059A>T)
 gnomAD v4
6g.150839977G>ACA366050786PLEKHG1c.3239G>A (p.Ser1080Asn)
c.1158-1058G>A (n.1158-1058G>A)
c.3416G>A (p.Ser1139Asn)
c.3455G>A (p.Ser1152Asn)
c.3359G>A (p.Ser1120Asn)
c.3200G>A (p.Ser1067Asn)
c.3122G>A (p.Ser1041Asn)
c.1617-1058G>A (n.1617-1058G>A)
 gnomAD v4
6g.150839977G>CCA366050787PLEKHG1c.3239G>C (p.Ser1080Thr)
c.1158-1058G>C (n.1158-1058G>C)
c.3416G>C (p.Ser1139Thr)
c.3455G>C (p.Ser1152Thr)
c.3359G>C (p.Ser1120Thr)
c.3200G>C (p.Ser1067Thr)
c.3122G>C (p.Ser1041Thr)
c.1617-1058G>C (n.1617-1058G>C)
6g.150839977G>TCA366050788PLEKHG1c.3239G>T (p.Ser1080Ile)
c.1158-1058G>T (n.1158-1058G>T)
c.3416G>T (p.Ser1139Ile)
c.3455G>T (p.Ser1152Ile)
c.3359G>T (p.Ser1120Ile)
c.3200G>T (p.Ser1067Ile)
c.3122G>T (p.Ser1041Ile)
c.1617-1058G>T (n.1617-1058G>T)
6g.150839978T>ACA366050789PLEKHG1c.3240T>A (p.Ser1080Arg)
c.1158-1057T>A (n.1158-1057T>A)
c.3417T>A (p.Ser1139Arg)
c.3456T>A (p.Ser1152Arg)
c.3360T>A (p.Ser1120Arg)
c.3201T>A (p.Ser1067Arg)
c.3123T>A (p.Ser1041Arg)
c.1617-1057T>A (n.1617-1057T>A)
6g.150839978T>CCA452725809PLEKHG1c.3240T>C (p.Ser1080=)
c.1158-1057T>C (n.1158-1057T>C)
c.3417T>C (p.Ser1139=)
c.3456T>C (p.Ser1152=)
c.3360T>C (p.Ser1120=)
c.3201T>C (p.Ser1067=)
c.3123T>C (p.Ser1041=)
c.1617-1057T>C (n.1617-1057T>C)
 gnomAD v4
6g.150839978T>GCA366050790PLEKHG1c.3240T>G (p.Ser1080Arg)
c.1158-1057T>G (n.1158-1057T>G)
c.3417T>G (p.Ser1139Arg)
c.3456T>G (p.Ser1152Arg)
c.3360T>G (p.Ser1120Arg)
c.3201T>G (p.Ser1067Arg)
c.3123T>G (p.Ser1041Arg)
c.1617-1057T>G (n.1617-1057T>G)
6g.150839979G>ACA366050793PLEKHG1c.3241G>A (p.Gly1081Arg)
c.1158-1056G>A (n.1158-1056G>A)
c.3418G>A (p.Gly1140Arg)
c.3457G>A (p.Gly1153Arg)
c.3361G>A (p.Gly1121Arg)
c.3202G>A (p.Gly1068Arg)
c.3124G>A (p.Gly1042Arg)
c.1617-1056G>A (n.1617-1056G>A)
 COSMIC
6g.150839979G>CCA366050792PLEKHG1c.3241G>C (p.Gly1081Arg)
c.1158-1056G>C (n.1158-1056G>C)
c.3418G>C (p.Gly1140Arg)
c.3457G>C (p.Gly1153Arg)
c.3361G>C (p.Gly1121Arg)
c.3202G>C (p.Gly1068Arg)
c.3124G>C (p.Gly1042Arg)
c.1617-1056G>C (n.1617-1056G>C)
6g.150839979G>TCA366050791PLEKHG1c.3241G>T (p.Gly1081Ter)
c.1158-1056G>T (n.1158-1056G>T)
c.3418G>T (p.Gly1140Ter)
c.3457G>T (p.Gly1153Ter)
c.3361G>T (p.Gly1121Ter)
c.3202G>T (p.Gly1068Ter)
c.3124G>T (p.Gly1042Ter)
c.1617-1056G>T (n.1617-1056G>T)
6g.150839980G>ACA4048122PLEKHG1c.3242G>A (p.Gly1081Glu)
c.1158-1055G>A (n.1158-1055G>A)
c.3419G>A (p.Gly1140Glu)
c.3458G>A (p.Gly1153Glu)
c.3362G>A (p.Gly1121Glu)
c.3203G>A (p.Gly1068Glu)
c.3125G>A (p.Gly1042Glu)
c.1617-1055G>A (n.1617-1055G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.150839980G>CCA366050794PLEKHG1c.3242G>C (p.Gly1081Ala)
c.1158-1055G>C (n.1158-1055G>C)
c.3419G>C (p.Gly1140Ala)
c.3458G>C (p.Gly1153Ala)
c.3362G>C (p.Gly1121Ala)
c.3203G>C (p.Gly1068Ala)
c.3125G>C (p.Gly1042Ala)
c.1617-1055G>C (n.1617-1055G>C)
6g.150839980G=CA1672598781PLEKHG1c.3242G= (p.Gly1081=)
c.1158-1055G= (n.1158-1055G=)
c.3419G= (p.Gly1140=)
c.3458G= (p.Gly1153=)
c.3362G= (p.Gly1121=)
c.3203G= (p.Gly1068=)
c.3125G= (p.Gly1042=)
c.1617-1055G= (n.1617-1055G=)
6g.150839980G>TCA366050795PLEKHG1c.3242G>T (p.Gly1081Val)
c.1158-1055G>T (n.1158-1055G>T)
c.3419G>T (p.Gly1140Val)
c.3458G>T (p.Gly1153Val)
c.3362G>T (p.Gly1121Val)
c.3203G>T (p.Gly1068Val)
c.3125G>T (p.Gly1042Val)
c.1617-1055G>T (n.1617-1055G>T)
6g.150839981A>CCA452725816PLEKHG1c.3243A>C (p.Gly1081=)
c.1158-1054A>C (n.1158-1054A>C)
c.3420A>C (p.Gly1140=)
c.3459A>C (p.Gly1153=)
c.3363A>C (p.Gly1121=)
c.3204A>C (p.Gly1068=)
c.3126A>C (p.Gly1042=)
c.1617-1054A>C (n.1617-1054A>C)
6g.150839981A>GCA452725822PLEKHG1c.3243A>G (p.Gly1081=)
c.1158-1054A>G (n.1158-1054A>G)
c.3420A>G (p.Gly1140=)
c.3459A>G (p.Gly1153=)
c.3363A>G (p.Gly1121=)
c.3204A>G (p.Gly1068=)
c.3126A>G (p.Gly1042=)
c.1617-1054A>G (n.1617-1054A>G)
6g.150839981A>TCA452725824PLEKHG1c.3243A>T (p.Gly1081=)
c.1158-1054A>T (n.1158-1054A>T)
c.3420A>T (p.Gly1140=)
c.3459A>T (p.Gly1153=)
c.3363A>T (p.Gly1121=)
c.3204A>T (p.Gly1068=)
c.3126A>T (p.Gly1042=)
c.1617-1054A>T (n.1617-1054A>T)
6g.150839981_150839984delCA2680776296PLEKHG1c.3243_3246del (p.Asp1082GlyfsTer12)
c.1158-1054_1158-1051del (n.1158-1054_1158-1051del)
c.3420_3423del (p.Asp1141GlyfsTer12)
c.3459_3462del (p.Asp1154GlyfsTer12)
c.3363_3366del (p.Asp1122GlyfsTer12)
c.3204_3207del (p.Asp1069GlyfsTer12)
c.3126_3129del (p.Asp1043GlyfsTer12)
c.1617-1054_1617-1051del (n.1617-1054_1617-1051del)
 gnomAD v4

Number of alleles fetched