Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.151405924G>ACA420909569POGZc.3159C>T (p.Thr1053=)
c.2952C>T (p.Thr984=)
c.3111C>T (p.Thr1037=)
c.3132C>T (p.Thr1044=)
n.3259C>T
c.2826C>T (p.Thr942=)
c.3084C>T (p.Thr1028=)
c.2979C>T (p.Thr993=)
c.2925C>T (p.Thr975=)
c.3003C>T (p.Thr1001=)
c.2754C>T (p.Thr918=)
c.2985C>T (p.Thr995=)
c.1911C>T (p.Thr637=)
n.2966C>T
1g.151405924G>CCA420909570POGZc.3159C>G (p.Thr1053=)
c.2952C>G (p.Thr984=)
c.3111C>G (p.Thr1037=)
c.3132C>G (p.Thr1044=)
n.3259C>G
c.2826C>G (p.Thr942=)
c.3084C>G (p.Thr1028=)
c.2979C>G (p.Thr993=)
c.2925C>G (p.Thr975=)
c.3003C>G (p.Thr1001=)
c.2754C>G (p.Thr918=)
c.2985C>G (p.Thr995=)
c.1911C>G (p.Thr637=)
n.2966C>G
 gnomAD v4
1g.151405924G>TCA420909568POGZc.3159C>A (p.Thr1053=)
c.2952C>A (p.Thr984=)
c.3111C>A (p.Thr1037=)
c.3132C>A (p.Thr1044=)
n.3259C>A
c.2826C>A (p.Thr942=)
c.3084C>A (p.Thr1028=)
c.2979C>A (p.Thr993=)
c.2925C>A (p.Thr975=)
c.3003C>A (p.Thr1001=)
c.2754C>A (p.Thr918=)
c.2985C>A (p.Thr995=)
c.1911C>A (p.Thr637=)
n.2966C>A
1g.151405925G>ACA1091007POGZc.3158C>T (p.Thr1053Ile)
c.2951C>T (p.Thr984Ile)
c.3110C>T (p.Thr1037Ile)
c.3131C>T (p.Thr1044Ile)
n.3258C>T
c.2825C>T (p.Thr942Ile)
c.3083C>T (p.Thr1028Ile)
c.2978C>T (p.Thr993Ile)
c.2924C>T (p.Thr975Ile)
c.3002C>T (p.Thr1001Ile)
c.2753C>T (p.Thr918Ile)
c.2984C>T (p.Thr995Ile)
c.1910C>T (p.Thr637Ile)
n.2965C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.151405925G>CCA341945567POGZc.3158C>G (p.Thr1053Ser)
c.2951C>G (p.Thr984Ser)
c.3110C>G (p.Thr1037Ser)
c.3131C>G (p.Thr1044Ser)
n.3258C>G
c.2825C>G (p.Thr942Ser)
c.3083C>G (p.Thr1028Ser)
c.2978C>G (p.Thr993Ser)
c.2924C>G (p.Thr975Ser)
c.3002C>G (p.Thr1001Ser)
c.2753C>G (p.Thr918Ser)
c.2984C>G (p.Thr995Ser)
c.1910C>G (p.Thr637Ser)
n.2965C>G
1g.151405925G=CA2479570458POGZc.3158C= (p.Thr1053=)
c.2951C= (p.Thr984=)
c.3110C= (p.Thr1037=)
c.3131C= (p.Thr1044=)
n.3258C=
c.2825C= (p.Thr942=)
c.3083C= (p.Thr1028=)
c.2978C= (p.Thr993=)
c.2924C= (p.Thr975=)
c.3002C= (p.Thr1001=)
c.2753C= (p.Thr918=)
c.2984C= (p.Thr995=)
c.1910C= (p.Thr637=)
n.2965C=
1g.151405925G>TCA341945570POGZc.3158C>A (p.Thr1053Asn)
c.2951C>A (p.Thr984Asn)
c.3110C>A (p.Thr1037Asn)
c.3131C>A (p.Thr1044Asn)
n.3258C>A
c.2825C>A (p.Thr942Asn)
c.3083C>A (p.Thr1028Asn)
c.2978C>A (p.Thr993Asn)
c.2924C>A (p.Thr975Asn)
c.3002C>A (p.Thr1001Asn)
c.2753C>A (p.Thr918Asn)
c.2984C>A (p.Thr995Asn)
c.1910C>A (p.Thr637Asn)
n.2965C>A
1g.151405926T>ACA341945580POGZc.3157A>T (p.Thr1053Ser)
c.2950A>T (p.Thr984Ser)
c.3109A>T (p.Thr1037Ser)
c.3130A>T (p.Thr1044Ser)
n.3257A>T
c.2824A>T (p.Thr942Ser)
c.3082A>T (p.Thr1028Ser)
c.2977A>T (p.Thr993Ser)
c.2923A>T (p.Thr975Ser)
c.3001A>T (p.Thr1001Ser)
c.2752A>T (p.Thr918Ser)
c.2983A>T (p.Thr995Ser)
c.1909A>T (p.Thr637Ser)
n.2964A>T
1g.151405926T>CCA341945577POGZc.3157A>G (p.Thr1053Ala)
c.2950A>G (p.Thr984Ala)
c.3109A>G (p.Thr1037Ala)
c.3130A>G (p.Thr1044Ala)
n.3257A>G
c.2824A>G (p.Thr942Ala)
c.3082A>G (p.Thr1028Ala)
c.2977A>G (p.Thr993Ala)
c.2923A>G (p.Thr975Ala)
c.3001A>G (p.Thr1001Ala)
c.2752A>G (p.Thr918Ala)
c.2983A>G (p.Thr995Ala)
c.1909A>G (p.Thr637Ala)
n.2964A>G
 dbSNP
1g.151405926T>GCA341945574POGZc.3157A>C (p.Thr1053Pro)
c.2950A>C (p.Thr984Pro)
c.3109A>C (p.Thr1037Pro)
c.3130A>C (p.Thr1044Pro)
n.3257A>C
c.2824A>C (p.Thr942Pro)
c.3082A>C (p.Thr1028Pro)
c.2977A>C (p.Thr993Pro)
c.2923A>C (p.Thr975Pro)
c.3001A>C (p.Thr1001Pro)
c.2752A>C (p.Thr918Pro)
c.2983A>C (p.Thr995Pro)
c.1909A>C (p.Thr637Pro)
n.2964A>C
1g.151405926T=CA2479570459POGZc.3157A= (p.Thr1053=)
c.2950A= (p.Thr984=)
c.3109A= (p.Thr1037=)
c.3130A= (p.Thr1044=)
n.3257A=
c.2824A= (p.Thr942=)
c.3082A= (p.Thr1028=)
c.2977A= (p.Thr993=)
c.2923A= (p.Thr975=)
c.3001A= (p.Thr1001=)
c.2752A= (p.Thr918=)
c.2983A= (p.Thr995=)
c.1909A= (p.Thr637=)
n.2964A=
1g.151405927T>ACA420909572POGZc.3156A>T (p.Leu1052=)
c.2949A>T (p.Leu983=)
c.3108A>T (p.Leu1036=)
c.3129A>T (p.Leu1043=)
n.3256A>T
c.2823A>T (p.Leu941=)
c.3081A>T (p.Leu1027=)
c.2976A>T (p.Leu992=)
c.2922A>T (p.Leu974=)
c.3000A>T (p.Leu1000=)
c.2751A>T (p.Leu917=)
c.2982A>T (p.Leu994=)
c.1908A>T (p.Leu636=)
n.2963A>T
1g.151405927T>CCA420909573POGZc.3156A>G (p.Leu1052=)
c.2949A>G (p.Leu983=)
c.3108A>G (p.Leu1036=)
c.3129A>G (p.Leu1043=)
n.3256A>G
c.2823A>G (p.Leu941=)
c.3081A>G (p.Leu1027=)
c.2976A>G (p.Leu992=)
c.2922A>G (p.Leu974=)
c.3000A>G (p.Leu1000=)
c.2751A>G (p.Leu917=)
c.2982A>G (p.Leu994=)
c.1908A>G (p.Leu636=)
n.2963A>G
1g.151405927T>GCA420909574POGZc.3156A>C (p.Leu1052=)
c.2949A>C (p.Leu983=)
c.3108A>C (p.Leu1036=)
c.3129A>C (p.Leu1043=)
n.3256A>C
c.2823A>C (p.Leu941=)
c.3081A>C (p.Leu1027=)
c.2976A>C (p.Leu992=)
c.2922A>C (p.Leu974=)
c.3000A>C (p.Leu1000=)
c.2751A>C (p.Leu917=)
c.2982A>C (p.Leu994=)
c.1908A>C (p.Leu636=)
n.2963A>C
1g.151405928A>CCA341945584POGZc.3155T>G (p.Leu1052Arg)
c.2948T>G (p.Leu983Arg)
c.3107T>G (p.Leu1036Arg)
c.3128T>G (p.Leu1043Arg)
n.3255T>G
c.2822T>G (p.Leu941Arg)
c.3080T>G (p.Leu1027Arg)
c.2975T>G (p.Leu992Arg)
c.2921T>G (p.Leu974Arg)
c.2999T>G (p.Leu1000Arg)
c.2750T>G (p.Leu917Arg)
c.2981T>G (p.Leu994Arg)
c.1907T>G (p.Leu636Arg)
n.2962T>G
1g.151405928A>GCA341945586POGZc.3155T>C (p.Leu1052Pro)
c.2948T>C (p.Leu983Pro)
c.3107T>C (p.Leu1036Pro)
c.3128T>C (p.Leu1043Pro)
n.3255T>C
c.2822T>C (p.Leu941Pro)
c.3080T>C (p.Leu1027Pro)
c.2975T>C (p.Leu992Pro)
c.2921T>C (p.Leu974Pro)
c.2999T>C (p.Leu1000Pro)
c.2750T>C (p.Leu917Pro)
c.2981T>C (p.Leu994Pro)
c.1907T>C (p.Leu636Pro)
n.2962T>C
 ClinVar dbSNP
1g.151405928A>TCA341945588POGZc.3155T>A (p.Leu1052Gln)
c.2948T>A (p.Leu983Gln)
c.3107T>A (p.Leu1036Gln)
c.3128T>A (p.Leu1043Gln)
n.3255T>A
c.2822T>A (p.Leu941Gln)
c.3080T>A (p.Leu1027Gln)
c.2975T>A (p.Leu992Gln)
c.2921T>A (p.Leu974Gln)
c.2999T>A (p.Leu1000Gln)
c.2750T>A (p.Leu917Gln)
c.2981T>A (p.Leu994Gln)
c.1907T>A (p.Leu636Gln)
n.2962T>A
1g.151405929G>ACA420909578POGZc.3154C>T (p.Leu1052=)
c.2947C>T (p.Leu983=)
c.3106C>T (p.Leu1036=)
c.3127C>T (p.Leu1043=)
n.3254C>T
c.2821C>T (p.Leu941=)
c.3079C>T (p.Leu1027=)
c.2974C>T (p.Leu992=)
c.2920C>T (p.Leu974=)
c.2998C>T (p.Leu1000=)
c.2749C>T (p.Leu917=)
c.2980C>T (p.Leu994=)
c.1906C>T (p.Leu636=)
n.2961C>T
 dbSNP gnomAD v3 gnomAD v4
1g.151405929G>CCA341945592POGZc.3154C>G (p.Leu1052Val)
c.2947C>G (p.Leu983Val)
c.3106C>G (p.Leu1036Val)
c.3127C>G (p.Leu1043Val)
n.3254C>G
c.2821C>G (p.Leu941Val)
c.3079C>G (p.Leu1027Val)
c.2974C>G (p.Leu992Val)
c.2920C>G (p.Leu974Val)
c.2998C>G (p.Leu1000Val)
c.2749C>G (p.Leu917Val)
c.2980C>G (p.Leu994Val)
c.1906C>G (p.Leu636Val)
n.2961C>G
1g.151405929G>TCA341945595POGZc.3154C>A (p.Leu1052Ile)
c.2947C>A (p.Leu983Ile)
c.3106C>A (p.Leu1036Ile)
c.3127C>A (p.Leu1043Ile)
n.3254C>A
c.2821C>A (p.Leu941Ile)
c.3079C>A (p.Leu1027Ile)
c.2974C>A (p.Leu992Ile)
c.2920C>A (p.Leu974Ile)
c.2998C>A (p.Leu1000Ile)
c.2749C>A (p.Leu917Ile)
c.2980C>A (p.Leu994Ile)
c.1906C>A (p.Leu636Ile)
n.2961C>A
1g.151405930C>ACA420909579POGZc.3153G>T (p.Val1051=)
c.2946G>T (p.Val982=)
c.3105G>T (p.Val1035=)
c.3126G>T (p.Val1042=)
n.3253G>T
c.2820G>T (p.Val940=)
c.3078G>T (p.Val1026=)
c.2973G>T (p.Val991=)
c.2919G>T (p.Val973=)
c.2997G>T (p.Val999=)
c.2748G>T (p.Val916=)
c.2979G>T (p.Val993=)
c.1905G>T (p.Val635=)
n.2960G>T
1g.151405930C>GCA420909580POGZc.3153G>C (p.Val1051=)
c.2946G>C (p.Val982=)
c.3105G>C (p.Val1035=)
c.3126G>C (p.Val1042=)
n.3253G>C
c.2820G>C (p.Val940=)
c.3078G>C (p.Val1026=)
c.2973G>C (p.Val991=)
c.2919G>C (p.Val973=)
c.2997G>C (p.Val999=)
c.2748G>C (p.Val916=)
c.2979G>C (p.Val993=)
c.1905G>C (p.Val635=)
n.2960G>C
1g.151405930C>TCA420909581POGZc.3153G>A (p.Val1051=)
c.2946G>A (p.Val982=)
c.3105G>A (p.Val1035=)
c.3126G>A (p.Val1042=)
n.3253G>A
c.2820G>A (p.Val940=)
c.3078G>A (p.Val1026=)
c.2973G>A (p.Val991=)
c.2919G>A (p.Val973=)
c.2997G>A (p.Val999=)
c.2748G>A (p.Val916=)
c.2979G>A (p.Val993=)
c.1905G>A (p.Val635=)
n.2960G>A
1g.151405931A>CCA341945603POGZc.3152T>G (p.Val1051Gly)
c.2945T>G (p.Val982Gly)
c.3104T>G (p.Val1035Gly)
c.3125T>G (p.Val1042Gly)
n.3252T>G
c.2819T>G (p.Val940Gly)
c.3077T>G (p.Val1026Gly)
c.2972T>G (p.Val991Gly)
c.2918T>G (p.Val973Gly)
c.2996T>G (p.Val999Gly)
c.2747T>G (p.Val916Gly)
c.2978T>G (p.Val993Gly)
c.1904T>G (p.Val635Gly)
n.2959T>G
1g.151405931A>GCA341945600POGZc.3152T>C (p.Val1051Ala)
c.2945T>C (p.Val982Ala)
c.3104T>C (p.Val1035Ala)
c.3125T>C (p.Val1042Ala)
n.3252T>C
c.2819T>C (p.Val940Ala)
c.3077T>C (p.Val1026Ala)
c.2972T>C (p.Val991Ala)
c.2918T>C (p.Val973Ala)
c.2996T>C (p.Val999Ala)
c.2747T>C (p.Val916Ala)
c.2978T>C (p.Val993Ala)
c.1904T>C (p.Val635Ala)
n.2959T>C
1g.151405931A>TCA341945599POGZc.3152T>A (p.Val1051Glu)
c.2945T>A (p.Val982Glu)
c.3104T>A (p.Val1035Glu)
c.3125T>A (p.Val1042Glu)
n.3252T>A
c.2819T>A (p.Val940Glu)
c.3077T>A (p.Val1026Glu)
c.2972T>A (p.Val991Glu)
c.2918T>A (p.Val973Glu)
c.2996T>A (p.Val999Glu)
c.2747T>A (p.Val916Glu)
c.2978T>A (p.Val993Glu)
c.1904T>A (p.Val635Glu)
n.2959T>A
1g.151405932C>ACA341945608POGZc.3151G>T (p.Val1051Leu)
c.2944G>T (p.Val982Leu)
c.3103G>T (p.Val1035Leu)
c.3124G>T (p.Val1042Leu)
n.3251G>T
c.2818G>T (p.Val940Leu)
c.3076G>T (p.Val1026Leu)
c.2971G>T (p.Val991Leu)
c.2917G>T (p.Val973Leu)
c.2995G>T (p.Val999Leu)
c.2746G>T (p.Val916Leu)
c.2977G>T (p.Val993Leu)
c.1903G>T (p.Val635Leu)
n.2958G>T
1g.151405932C=CA2479570460POGZc.3151G= (p.Val1051=)
c.2944G= (p.Val982=)
c.3103G= (p.Val1035=)
c.3124G= (p.Val1042=)
n.3251G=
c.2818G= (p.Val940=)
c.3076G= (p.Val1026=)
c.2971G= (p.Val991=)
c.2917G= (p.Val973=)
c.2995G= (p.Val999=)
c.2746G= (p.Val916=)
c.2977G= (p.Val993=)
c.1903G= (p.Val635=)
n.2958G=
1g.151405932C>GCA341945612POGZc.3151G>C (p.Val1051Leu)
c.2944G>C (p.Val982Leu)
c.3103G>C (p.Val1035Leu)
c.3124G>C (p.Val1042Leu)
n.3251G>C
c.2818G>C (p.Val940Leu)
c.3076G>C (p.Val1026Leu)
c.2971G>C (p.Val991Leu)
c.2917G>C (p.Val973Leu)
c.2995G>C (p.Val999Leu)
c.2746G>C (p.Val916Leu)
c.2977G>C (p.Val993Leu)
c.1903G>C (p.Val635Leu)
n.2958G>C
1g.151405932C>TCA1091008POGZc.3151G>A (p.Val1051Met)
c.2944G>A (p.Val982Met)
c.3103G>A (p.Val1035Met)
c.3124G>A (p.Val1042Met)
n.3251G>A
c.2818G>A (p.Val940Met)
c.3076G>A (p.Val1026Met)
c.2971G>A (p.Val991Met)
c.2917G>A (p.Val973Met)
c.2995G>A (p.Val999Met)
c.2746G>A (p.Val916Met)
c.2977G>A (p.Val993Met)
c.1903G>A (p.Val635Met)
n.2958G>A
 dbSNP ExAC
1g.151405933C>ACA341945618POGZc.3150G>T (p.Trp1050Cys)
c.2943G>T (p.Trp981Cys)
c.3102G>T (p.Trp1034Cys)
c.3123G>T (p.Trp1041Cys)
n.3250G>T
c.2817G>T (p.Trp939Cys)
c.3075G>T (p.Trp1025Cys)
c.2970G>T (p.Trp990Cys)
c.2916G>T (p.Trp972Cys)
c.2994G>T (p.Trp998Cys)
c.2745G>T (p.Trp915Cys)
c.2976G>T (p.Trp992Cys)
c.1902G>T (p.Trp634Cys)
n.2957G>T
1g.151405933C>GCA341945620POGZc.3150G>C (p.Trp1050Cys)
c.2943G>C (p.Trp981Cys)
c.3102G>C (p.Trp1034Cys)
c.3123G>C (p.Trp1041Cys)
n.3250G>C
c.2817G>C (p.Trp939Cys)
c.3075G>C (p.Trp1025Cys)
c.2970G>C (p.Trp990Cys)
c.2916G>C (p.Trp972Cys)
c.2994G>C (p.Trp998Cys)
c.2745G>C (p.Trp915Cys)
c.2976G>C (p.Trp992Cys)
c.1902G>C (p.Trp634Cys)
n.2957G>C
1g.151405933C>TCA341945624POGZc.3150G>A (p.Trp1050Ter)
c.2943G>A (p.Trp981Ter)
c.3102G>A (p.Trp1034Ter)
c.3123G>A (p.Trp1041Ter)
n.3250G>A
c.2817G>A (p.Trp939Ter)
c.3075G>A (p.Trp1025Ter)
c.2970G>A (p.Trp990Ter)
c.2916G>A (p.Trp972Ter)
c.2994G>A (p.Trp998Ter)
c.2745G>A (p.Trp915Ter)
c.2976G>A (p.Trp992Ter)
c.1902G>A (p.Trp634Ter)
n.2957G>A
1g.151405934C>ACA341945629POGZc.3149G>T (p.Trp1050Leu)
c.2942G>T (p.Trp981Leu)
c.3101G>T (p.Trp1034Leu)
c.3122G>T (p.Trp1041Leu)
n.3249G>T
c.2816G>T (p.Trp939Leu)
c.3074G>T (p.Trp1025Leu)
c.2969G>T (p.Trp990Leu)
c.2915G>T (p.Trp972Leu)
c.2993G>T (p.Trp998Leu)
c.2744G>T (p.Trp915Leu)
c.2975G>T (p.Trp992Leu)
c.1901G>T (p.Trp634Leu)
n.2956G>T
1g.151405934C>GCA341945637POGZc.3149G>C (p.Trp1050Ser)
c.2942G>C (p.Trp981Ser)
c.3101G>C (p.Trp1034Ser)
c.3122G>C (p.Trp1041Ser)
n.3249G>C
c.2816G>C (p.Trp939Ser)
c.3074G>C (p.Trp1025Ser)
c.2969G>C (p.Trp990Ser)
c.2915G>C (p.Trp972Ser)
c.2993G>C (p.Trp998Ser)
c.2744G>C (p.Trp915Ser)
c.2975G>C (p.Trp992Ser)
c.1901G>C (p.Trp634Ser)
n.2956G>C
1g.151405934C>TCA341945632POGZc.3149G>A (p.Trp1050Ter)
c.2942G>A (p.Trp981Ter)
c.3101G>A (p.Trp1034Ter)
c.3122G>A (p.Trp1041Ter)
n.3249G>A
c.2816G>A (p.Trp939Ter)
c.3074G>A (p.Trp1025Ter)
c.2969G>A (p.Trp990Ter)
c.2915G>A (p.Trp972Ter)
c.2993G>A (p.Trp998Ter)
c.2744G>A (p.Trp915Ter)
c.2975G>A (p.Trp992Ter)
c.1901G>A (p.Trp634Ter)
n.2956G>A
1g.151405936_151405939delCA2740090362POGZc.3146_3149del (p.Glu1049GlyfsTer3)
c.2939_2942del (p.Glu980GlyfsTer3)
c.3098_3101del (p.Glu1033GlyfsTer3)
c.3119_3122del (p.Glu1040GlyfsTer3)
n.3246_3249del
c.2813_2816del (p.Glu938GlyfsTer3)
c.3071_3074del (p.Glu1024GlyfsTer3)
c.2966_2969del (p.Glu989GlyfsTer3)
c.2912_2915del (p.Glu971GlyfsTer3)
c.2990_2993del (p.Glu997GlyfsTer3)
c.2741_2744del (p.Glu914GlyfsTer3)
c.2972_2975del (p.Glu991GlyfsTer3)
c.1898_1901del (p.Glu633GlyfsTer3)
n.2953_2956del
 ClinVar
1g.151405935A>CCA341945642POGZc.3148T>G (p.Trp1050Gly)
c.2941T>G (p.Trp981Gly)
c.3100T>G (p.Trp1034Gly)
c.3121T>G (p.Trp1041Gly)
n.3248T>G
c.2815T>G (p.Trp939Gly)
c.3073T>G (p.Trp1025Gly)
c.2968T>G (p.Trp990Gly)
c.2914T>G (p.Trp972Gly)
c.2992T>G (p.Trp998Gly)
c.2743T>G (p.Trp915Gly)
c.2974T>G (p.Trp992Gly)
c.1900T>G (p.Trp634Gly)
n.2955T>G
 ClinVar dbSNP
1g.151405935A>GCA341945643POGZc.3148T>C (p.Trp1050Arg)
c.2941T>C (p.Trp981Arg)
c.3100T>C (p.Trp1034Arg)
c.3121T>C (p.Trp1041Arg)
n.3248T>C
c.2815T>C (p.Trp939Arg)
c.3073T>C (p.Trp1025Arg)
c.2968T>C (p.Trp990Arg)
c.2914T>C (p.Trp972Arg)
c.2992T>C (p.Trp998Arg)
c.2743T>C (p.Trp915Arg)
c.2974T>C (p.Trp992Arg)
c.1900T>C (p.Trp634Arg)
n.2955T>C
1g.151405935A>TCA341945648POGZc.3148T>A (p.Trp1050Arg)
c.2941T>A (p.Trp981Arg)
c.3100T>A (p.Trp1034Arg)
c.3121T>A (p.Trp1041Arg)
n.3248T>A
c.2815T>A (p.Trp939Arg)
c.3073T>A (p.Trp1025Arg)
c.2968T>A (p.Trp990Arg)
c.2914T>A (p.Trp972Arg)
c.2992T>A (p.Trp998Arg)
c.2743T>A (p.Trp915Arg)
c.2974T>A (p.Trp992Arg)
c.1900T>A (p.Trp634Arg)
n.2955T>A
1g.151405936C>ACA341945653POGZc.3147G>T (p.Glu1049Asp)
c.2940G>T (p.Glu980Asp)
c.3099G>T (p.Glu1033Asp)
c.3120G>T (p.Glu1040Asp)
n.3247G>T
c.2814G>T (p.Glu938Asp)
c.3072G>T (p.Glu1024Asp)
c.2967G>T (p.Glu989Asp)
c.2913G>T (p.Glu971Asp)
c.2991G>T (p.Glu997Asp)
c.2742G>T (p.Glu914Asp)
c.2973G>T (p.Glu991Asp)
c.1899G>T (p.Glu633Asp)
n.2954G>T
1g.151405936C=CA2479570461POGZc.3147G= (p.Glu1049=)
c.2940G= (p.Glu980=)
c.3099G= (p.Glu1033=)
c.3120G= (p.Glu1040=)
n.3247G=
c.2814G= (p.Glu938=)
c.3072G= (p.Glu1024=)
c.2967G= (p.Glu989=)
c.2913G= (p.Glu971=)
c.2991G= (p.Glu997=)
c.2742G= (p.Glu914=)
c.2973G= (p.Glu991=)
c.1899G= (p.Glu633=)
n.2954G=
1g.151405936C>GCA341945659POGZc.3147G>C (p.Glu1049Asp)
c.2940G>C (p.Glu980Asp)
c.3099G>C (p.Glu1033Asp)
c.3120G>C (p.Glu1040Asp)
n.3247G>C
c.2814G>C (p.Glu938Asp)
c.3072G>C (p.Glu1024Asp)
c.2967G>C (p.Glu989Asp)
c.2913G>C (p.Glu971Asp)
c.2991G>C (p.Glu997Asp)
c.2742G>C (p.Glu914Asp)
c.2973G>C (p.Glu991Asp)
c.1899G>C (p.Glu633Asp)
n.2954G>C
 gnomAD v4
1g.151405936C>TCA1091009POGZc.3147G>A (p.Glu1049=)
c.2940G>A (p.Glu980=)
c.3099G>A (p.Glu1033=)
c.3120G>A (p.Glu1040=)
n.3247G>A
c.2814G>A (p.Glu938=)
c.3072G>A (p.Glu1024=)
c.2967G>A (p.Glu989=)
c.2913G>A (p.Glu971=)
c.2991G>A (p.Glu997=)
c.2742G>A (p.Glu914=)
c.2973G>A (p.Glu991=)
c.1899G>A (p.Glu633=)
n.2954G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
1g.151405937T>ACA341945674POGZc.3146A>T (p.Glu1049Val)
c.2939A>T (p.Glu980Val)
c.3098A>T (p.Glu1033Val)
c.3119A>T (p.Glu1040Val)
n.3246A>T
c.2813A>T (p.Glu938Val)
c.3071A>T (p.Glu1024Val)
c.2966A>T (p.Glu989Val)
c.2912A>T (p.Glu971Val)
c.2990A>T (p.Glu997Val)
c.2741A>T (p.Glu914Val)
c.2972A>T (p.Glu991Val)
c.1898A>T (p.Glu633Val)
n.2953A>T
1g.151405937T>CCA341945677POGZc.3146A>G (p.Glu1049Gly)
c.2939A>G (p.Glu980Gly)
c.3098A>G (p.Glu1033Gly)
c.3119A>G (p.Glu1040Gly)
n.3246A>G
c.2813A>G (p.Glu938Gly)
c.3071A>G (p.Glu1024Gly)
c.2966A>G (p.Glu989Gly)
c.2912A>G (p.Glu971Gly)
c.2990A>G (p.Glu997Gly)
c.2741A>G (p.Glu914Gly)
c.2972A>G (p.Glu991Gly)
c.1898A>G (p.Glu633Gly)
n.2953A>G
1g.151405937T>GCA341945678POGZc.3146A>C (p.Glu1049Ala)
c.2939A>C (p.Glu980Ala)
c.3098A>C (p.Glu1033Ala)
c.3119A>C (p.Glu1040Ala)
n.3246A>C
c.2813A>C (p.Glu938Ala)
c.3071A>C (p.Glu1024Ala)
c.2966A>C (p.Glu989Ala)
c.2912A>C (p.Glu971Ala)
c.2990A>C (p.Glu997Ala)
c.2741A>C (p.Glu914Ala)
c.2972A>C (p.Glu991Ala)
c.1898A>C (p.Glu633Ala)
n.2953A>C
1g.151405938C>ACA341945679POGZc.3145G>T (p.Glu1049Ter)
c.2938G>T (p.Glu980Ter)
c.3097G>T (p.Glu1033Ter)
c.3118G>T (p.Glu1040Ter)
n.3245G>T
c.2812G>T (p.Glu938Ter)
c.3070G>T (p.Glu1024Ter)
c.2965G>T (p.Glu989Ter)
c.2911G>T (p.Glu971Ter)
c.2989G>T (p.Glu997Ter)
c.2740G>T (p.Glu914Ter)
c.2971G>T (p.Glu991Ter)
c.1897G>T (p.Glu633Ter)
n.2952G>T
1g.151405938C>GCA341945680POGZc.3145G>C (p.Glu1049Gln)
c.2938G>C (p.Glu980Gln)
c.3097G>C (p.Glu1033Gln)
c.3118G>C (p.Glu1040Gln)
n.3245G>C
c.2812G>C (p.Glu938Gln)
c.3070G>C (p.Glu1024Gln)
c.2965G>C (p.Glu989Gln)
c.2911G>C (p.Glu971Gln)
c.2989G>C (p.Glu997Gln)
c.2740G>C (p.Glu914Gln)
c.2971G>C (p.Glu991Gln)
c.1897G>C (p.Glu633Gln)
n.2952G>C
1g.151405938C>TCA341945681POGZc.3145G>A (p.Glu1049Lys)
c.2938G>A (p.Glu980Lys)
c.3097G>A (p.Glu1033Lys)
c.3118G>A (p.Glu1040Lys)
n.3245G>A
c.2812G>A (p.Glu938Lys)
c.3070G>A (p.Glu1024Lys)
c.2965G>A (p.Glu989Lys)
c.2911G>A (p.Glu971Lys)
c.2989G>A (p.Glu997Lys)
c.2740G>A (p.Glu914Lys)
c.2971G>A (p.Glu991Lys)
c.1897G>A (p.Glu633Lys)
n.2952G>A
1g.151405939A>CCA420909587POGZc.3144T>G (p.Ala1048=)
c.2937T>G (p.Ala979=)
c.3096T>G (p.Ala1032=)
c.3117T>G (p.Ala1039=)
n.3244T>G
c.2811T>G (p.Ala937=)
c.3069T>G (p.Ala1023=)
c.2964T>G (p.Ala988=)
c.2910T>G (p.Ala970=)
c.2988T>G (p.Ala996=)
c.2739T>G (p.Ala913=)
c.2970T>G (p.Ala990=)
c.1896T>G (p.Ala632=)
n.2951T>G
1g.151405939A>GCA420909586POGZc.3144T>C (p.Ala1048=)
c.2937T>C (p.Ala979=)
c.3096T>C (p.Ala1032=)
c.3117T>C (p.Ala1039=)
n.3244T>C
c.2811T>C (p.Ala937=)
c.3069T>C (p.Ala1023=)
c.2964T>C (p.Ala988=)
c.2910T>C (p.Ala970=)
c.2988T>C (p.Ala996=)
c.2739T>C (p.Ala913=)
c.2970T>C (p.Ala990=)
c.1896T>C (p.Ala632=)
n.2951T>C
1g.151405939A>TCA420909584POGZc.3144T>A (p.Ala1048=)
c.2937T>A (p.Ala979=)
c.3096T>A (p.Ala1032=)
c.3117T>A (p.Ala1039=)
n.3244T>A
c.2811T>A (p.Ala937=)
c.3069T>A (p.Ala1023=)
c.2964T>A (p.Ala988=)
c.2910T>A (p.Ala970=)
c.2988T>A (p.Ala996=)
c.2739T>A (p.Ala913=)
c.2970T>A (p.Ala990=)
c.1896T>A (p.Ala632=)
n.2951T>A
1g.151405940G>ACA341945690POGZc.3143C>T (p.Ala1048Val)
c.2936C>T (p.Ala979Val)
c.3095C>T (p.Ala1032Val)
c.3116C>T (p.Ala1039Val)
n.3243C>T
c.2810C>T (p.Ala937Val)
c.3068C>T (p.Ala1023Val)
c.2963C>T (p.Ala988Val)
c.2909C>T (p.Ala970Val)
c.2987C>T (p.Ala996Val)
c.2738C>T (p.Ala913Val)
c.2969C>T (p.Ala990Val)
c.1895C>T (p.Ala632Val)
n.2950C>T
1g.151405940G>CCA341945694POGZc.3143C>G (p.Ala1048Gly)
c.2936C>G (p.Ala979Gly)
c.3095C>G (p.Ala1032Gly)
c.3116C>G (p.Ala1039Gly)
n.3243C>G
c.2810C>G (p.Ala937Gly)
c.3068C>G (p.Ala1023Gly)
c.2963C>G (p.Ala988Gly)
c.2909C>G (p.Ala970Gly)
c.2987C>G (p.Ala996Gly)
c.2738C>G (p.Ala913Gly)
c.2969C>G (p.Ala990Gly)
c.1895C>G (p.Ala632Gly)
n.2950C>G
1g.151405940G>TCA341945686POGZc.3143C>A (p.Ala1048Asp)
c.2936C>A (p.Ala979Asp)
c.3095C>A (p.Ala1032Asp)
c.3116C>A (p.Ala1039Asp)
n.3243C>A
c.2810C>A (p.Ala937Asp)
c.3068C>A (p.Ala1023Asp)
c.2963C>A (p.Ala988Asp)
c.2909C>A (p.Ala970Asp)
c.2987C>A (p.Ala996Asp)
c.2738C>A (p.Ala913Asp)
c.2969C>A (p.Ala990Asp)
c.1895C>A (p.Ala632Asp)
n.2950C>A
1g.151405941C>ACA341945700POGZc.3142G>T (p.Ala1048Ser)
c.2935G>T (p.Ala979Ser)
c.3094G>T (p.Ala1032Ser)
c.3115G>T (p.Ala1039Ser)
n.3242G>T
c.2809G>T (p.Ala937Ser)
c.3067G>T (p.Ala1023Ser)
c.2962G>T (p.Ala988Ser)
c.2908G>T (p.Ala970Ser)
c.2986G>T (p.Ala996Ser)
c.2737G>T (p.Ala913Ser)
c.2968G>T (p.Ala990Ser)
c.1894G>T (p.Ala632Ser)
n.2949G>T
1g.151405941C>GCA341945698POGZc.3142G>C (p.Ala1048Pro)
c.2935G>C (p.Ala979Pro)
c.3094G>C (p.Ala1032Pro)
c.3115G>C (p.Ala1039Pro)
n.3242G>C
c.2809G>C (p.Ala937Pro)
c.3067G>C (p.Ala1023Pro)
c.2962G>C (p.Ala988Pro)
c.2908G>C (p.Ala970Pro)
c.2986G>C (p.Ala996Pro)
c.2737G>C (p.Ala913Pro)
c.2968G>C (p.Ala990Pro)
c.1894G>C (p.Ala632Pro)
n.2949G>C
1g.151405941C>TCA341945705POGZc.3142G>A (p.Ala1048Thr)
c.2935G>A (p.Ala979Thr)
c.3094G>A (p.Ala1032Thr)
c.3115G>A (p.Ala1039Thr)
n.3242G>A
c.2809G>A (p.Ala937Thr)
c.3067G>A (p.Ala1023Thr)
c.2962G>A (p.Ala988Thr)
c.2908G>A (p.Ala970Thr)
c.2986G>A (p.Ala996Thr)
c.2737G>A (p.Ala913Thr)
c.2968G>A (p.Ala990Thr)
c.1894G>A (p.Ala632Thr)
n.2949G>A
1g.151405942C>ACA420909588POGZc.3141G>T (p.Leu1047=)
c.2934G>T (p.Leu978=)
c.3093G>T (p.Leu1031=)
c.3114G>T (p.Leu1038=)
n.3241G>T
c.2808G>T (p.Leu936=)
c.3066G>T (p.Leu1022=)
c.2961G>T (p.Leu987=)
c.2907G>T (p.Leu969=)
c.2985G>T (p.Leu995=)
c.2736G>T (p.Leu912=)
c.2967G>T (p.Leu989=)
c.1893G>T (p.Leu631=)
n.2948G>T
1g.151405942C=CA2479570462POGZc.3141G= (p.Leu1047=)
c.2934G= (p.Leu978=)
c.3093G= (p.Leu1031=)
c.3114G= (p.Leu1038=)
n.3241G=
c.2808G= (p.Leu936=)
c.3066G= (p.Leu1022=)
c.2961G= (p.Leu987=)
c.2907G= (p.Leu969=)
c.2985G= (p.Leu995=)
c.2736G= (p.Leu912=)
c.2967G= (p.Leu989=)
c.1893G= (p.Leu631=)
n.2948G=
1g.151405942C>GCA420909590POGZc.3141G>C (p.Leu1047=)
c.2934G>C (p.Leu978=)
c.3093G>C (p.Leu1031=)
c.3114G>C (p.Leu1038=)
n.3241G>C
c.2808G>C (p.Leu936=)
c.3066G>C (p.Leu1022=)
c.2961G>C (p.Leu987=)
c.2907G>C (p.Leu969=)
c.2985G>C (p.Leu995=)
c.2736G>C (p.Leu912=)
c.2967G>C (p.Leu989=)
c.1893G>C (p.Leu631=)
n.2948G>C
1g.151405942C>TCA420909591POGZc.3141G>A (p.Leu1047=)
c.2934G>A (p.Leu978=)
c.3093G>A (p.Leu1031=)
c.3114G>A (p.Leu1038=)
n.3241G>A
c.2808G>A (p.Leu936=)
c.3066G>A (p.Leu1022=)
c.2961G>A (p.Leu987=)
c.2907G>A (p.Leu969=)
c.2985G>A (p.Leu995=)
c.2736G>A (p.Leu912=)
c.2967G>A (p.Leu989=)
c.1893G>A (p.Leu631=)
n.2948G>A
 dbSNP gnomAD v3 gnomAD v4
1g.151405943A>CCA341945723POGZc.3140T>G (p.Leu1047Arg)
c.2933T>G (p.Leu978Arg)
c.3092T>G (p.Leu1031Arg)
c.3113T>G (p.Leu1038Arg)
n.3240T>G
c.2807T>G (p.Leu936Arg)
c.3065T>G (p.Leu1022Arg)
c.2960T>G (p.Leu987Arg)
c.2906T>G (p.Leu969Arg)
c.2984T>G (p.Leu995Arg)
c.2735T>G (p.Leu912Arg)
c.2966T>G (p.Leu989Arg)
c.1892T>G (p.Leu631Arg)
n.2947T>G
1g.151405943A>GCA341945726POGZc.3140T>C (p.Leu1047Pro)
c.2933T>C (p.Leu978Pro)
c.3092T>C (p.Leu1031Pro)
c.3113T>C (p.Leu1038Pro)
n.3240T>C
c.2807T>C (p.Leu936Pro)
c.3065T>C (p.Leu1022Pro)
c.2960T>C (p.Leu987Pro)
c.2906T>C (p.Leu969Pro)
c.2984T>C (p.Leu995Pro)
c.2735T>C (p.Leu912Pro)
c.2966T>C (p.Leu989Pro)
c.1892T>C (p.Leu631Pro)
n.2947T>C
1g.151405943A>TCA341945727POGZc.3140T>A (p.Leu1047Gln)
c.2933T>A (p.Leu978Gln)
c.3092T>A (p.Leu1031Gln)
c.3113T>A (p.Leu1038Gln)
n.3240T>A
c.2807T>A (p.Leu936Gln)
c.3065T>A (p.Leu1022Gln)
c.2960T>A (p.Leu987Gln)
c.2906T>A (p.Leu969Gln)
c.2984T>A (p.Leu995Gln)
c.2735T>A (p.Leu912Gln)
c.2966T>A (p.Leu989Gln)
c.1892T>A (p.Leu631Gln)
n.2947T>A
1g.151405944G>ACA420909593POGZc.3139C>T (p.Leu1047=)
c.2932C>T (p.Leu978=)
c.3091C>T (p.Leu1031=)
c.3112C>T (p.Leu1038=)
n.3239C>T
c.2806C>T (p.Leu936=)
c.3064C>T (p.Leu1022=)
c.2959C>T (p.Leu987=)
c.2905C>T (p.Leu969=)
c.2983C>T (p.Leu995=)
c.2734C>T (p.Leu912=)
c.2965C>T (p.Leu989=)
c.1891C>T (p.Leu631=)
n.2946C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.151405944G>CCA341945728POGZc.3139C>G (p.Leu1047Val)
c.2932C>G (p.Leu978Val)
c.3091C>G (p.Leu1031Val)
c.3112C>G (p.Leu1038Val)
n.3239C>G
c.2806C>G (p.Leu936Val)
c.3064C>G (p.Leu1022Val)
c.2959C>G (p.Leu987Val)
c.2905C>G (p.Leu969Val)
c.2983C>G (p.Leu995Val)
c.2734C>G (p.Leu912Val)
c.2965C>G (p.Leu989Val)
c.1891C>G (p.Leu631Val)
n.2946C>G
1g.151405944G=CA2479570463POGZc.3139C= (p.Leu1047=)
c.2932C= (p.Leu978=)
c.3091C= (p.Leu1031=)
c.3112C= (p.Leu1038=)
n.3239C=
c.2806C= (p.Leu936=)
c.3064C= (p.Leu1022=)
c.2959C= (p.Leu987=)
c.2905C= (p.Leu969=)
c.2983C= (p.Leu995=)
c.2734C= (p.Leu912=)
c.2965C= (p.Leu989=)
c.1891C= (p.Leu631=)
n.2946C=
1g.151405944G>TCA341945729POGZc.3139C>A (p.Leu1047Met)
c.2932C>A (p.Leu978Met)
c.3091C>A (p.Leu1031Met)
c.3112C>A (p.Leu1038Met)
n.3239C>A
c.2806C>A (p.Leu936Met)
c.3064C>A (p.Leu1022Met)
c.2959C>A (p.Leu987Met)
c.2905C>A (p.Leu969Met)
c.2983C>A (p.Leu995Met)
c.2734C>A (p.Leu912Met)
c.2965C>A (p.Leu989Met)
c.1891C>A (p.Leu631Met)
n.2946C>A
1g.151405945T>ACA341945732POGZc.3138A>T (p.Lys1046Asn)
c.2931A>T (p.Lys977Asn)
c.3090A>T (p.Lys1030Asn)
c.3111A>T (p.Lys1037Asn)
n.3238A>T
c.2805A>T (p.Lys935Asn)
c.3063A>T (p.Lys1021Asn)
c.2958A>T (p.Lys986Asn)
c.2904A>T (p.Lys968Asn)
c.2982A>T (p.Lys994Asn)
c.2733A>T (p.Lys911Asn)
c.2964A>T (p.Lys988Asn)
c.1890A>T (p.Lys630Asn)
n.2945A>T
1g.151405945T>CCA1091010POGZc.3138A>G (p.Lys1046=)
c.2931A>G (p.Lys977=)
c.3090A>G (p.Lys1030=)
c.3111A>G (p.Lys1037=)
n.3238A>G
c.2805A>G (p.Lys935=)
c.3063A>G (p.Lys1021=)
c.2958A>G (p.Lys986=)
c.2904A>G (p.Lys968=)
c.2982A>G (p.Lys994=)
c.2733A>G (p.Lys911=)
c.2964A>G (p.Lys988=)
c.1890A>G (p.Lys630=)
n.2945A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.151405945T>GCA341945738POGZc.3138A>C (p.Lys1046Asn)
c.2931A>C (p.Lys977Asn)
c.3090A>C (p.Lys1030Asn)
c.3111A>C (p.Lys1037Asn)
n.3238A>C
c.2805A>C (p.Lys935Asn)
c.3063A>C (p.Lys1021Asn)
c.2958A>C (p.Lys986Asn)
c.2904A>C (p.Lys968Asn)
c.2982A>C (p.Lys994Asn)
c.2733A>C (p.Lys911Asn)
c.2964A>C (p.Lys988Asn)
c.1890A>C (p.Lys630Asn)
n.2945A>C
1g.151405945T=CA1142172947POGZc.3138A= (p.Lys1046=)
c.2931A= (p.Lys977=)
c.3090A= (p.Lys1030=)
c.3111A= (p.Lys1037=)
n.3238A=
c.2805A= (p.Lys935=)
c.3063A= (p.Lys1021=)
c.2958A= (p.Lys986=)
c.2904A= (p.Lys968=)
c.2982A= (p.Lys994=)
c.2733A= (p.Lys911=)
c.2964A= (p.Lys988=)
c.1890A= (p.Lys630=)
n.2945A=
1g.151405946T>ACA341945746POGZc.3137A>T (p.Lys1046Ile)
c.2930A>T (p.Lys977Ile)
c.3089A>T (p.Lys1030Ile)
c.3110A>T (p.Lys1037Ile)
n.3237A>T
c.2804A>T (p.Lys935Ile)
c.3062A>T (p.Lys1021Ile)
c.2957A>T (p.Lys986Ile)
c.2903A>T (p.Lys968Ile)
c.2981A>T (p.Lys994Ile)
c.2732A>T (p.Lys911Ile)
c.2963A>T (p.Lys988Ile)
c.1889A>T (p.Lys630Ile)
n.2944A>T
1g.151405946T>CCA341945750POGZc.3137A>G (p.Lys1046Arg)
c.2930A>G (p.Lys977Arg)
c.3089A>G (p.Lys1030Arg)
c.3110A>G (p.Lys1037Arg)
n.3237A>G
c.2804A>G (p.Lys935Arg)
c.3062A>G (p.Lys1021Arg)
c.2957A>G (p.Lys986Arg)
c.2903A>G (p.Lys968Arg)
c.2981A>G (p.Lys994Arg)
c.2732A>G (p.Lys911Arg)
c.2963A>G (p.Lys988Arg)
c.1889A>G (p.Lys630Arg)
n.2944A>G
1g.151405946T>GCA341945753POGZc.3137A>C (p.Lys1046Thr)
c.2930A>C (p.Lys977Thr)
c.3089A>C (p.Lys1030Thr)
c.3110A>C (p.Lys1037Thr)
n.3237A>C
c.2804A>C (p.Lys935Thr)
c.3062A>C (p.Lys1021Thr)
c.2957A>C (p.Lys986Thr)
c.2903A>C (p.Lys968Thr)
c.2981A>C (p.Lys994Thr)
c.2732A>C (p.Lys911Thr)
c.2963A>C (p.Lys988Thr)
c.1889A>C (p.Lys630Thr)
n.2944A>C
1g.151405947T>ACA341945760POGZc.3136A>T (p.Lys1046Ter)
c.2929A>T (p.Lys977Ter)
c.3088A>T (p.Lys1030Ter)
c.3109A>T (p.Lys1037Ter)
n.3236A>T
c.2803A>T (p.Lys935Ter)
c.3061A>T (p.Lys1021Ter)
c.2956A>T (p.Lys986Ter)
c.2902A>T (p.Lys968Ter)
c.2980A>T (p.Lys994Ter)
c.2731A>T (p.Lys911Ter)
c.2962A>T (p.Lys988Ter)
c.1888A>T (p.Lys630Ter)
n.2943A>T
1g.151405947T>CCA341945763POGZc.3136A>G (p.Lys1046Glu)
c.2929A>G (p.Lys977Glu)
c.3088A>G (p.Lys1030Glu)
c.3109A>G (p.Lys1037Glu)
n.3236A>G
c.2803A>G (p.Lys935Glu)
c.3061A>G (p.Lys1021Glu)
c.2956A>G (p.Lys986Glu)
c.2902A>G (p.Lys968Glu)
c.2980A>G (p.Lys994Glu)
c.2731A>G (p.Lys911Glu)
c.2962A>G (p.Lys988Glu)
c.1888A>G (p.Lys630Glu)
n.2943A>G
1g.151405947T>GCA341945768POGZc.3136A>C (p.Lys1046Gln)
c.2929A>C (p.Lys977Gln)
c.3088A>C (p.Lys1030Gln)
c.3109A>C (p.Lys1037Gln)
n.3236A>C
c.2803A>C (p.Lys935Gln)
c.3061A>C (p.Lys1021Gln)
c.2956A>C (p.Lys986Gln)
c.2902A>C (p.Lys968Gln)
c.2980A>C (p.Lys994Gln)
c.2731A>C (p.Lys911Gln)
c.2962A>C (p.Lys988Gln)
c.1888A>C (p.Lys630Gln)
n.2943A>C
1g.151405948C>ACA341945772POGZc.3135G>T (p.Glu1045Asp)
c.2928G>T (p.Glu976Asp)
c.3087G>T (p.Glu1029Asp)
c.3108G>T (p.Glu1036Asp)
n.3235G>T
c.2802G>T (p.Glu934Asp)
c.3060G>T (p.Glu1020Asp)
c.2955G>T (p.Glu985Asp)
c.2901G>T (p.Glu967Asp)
c.2979G>T (p.Glu993Asp)
c.2730G>T (p.Glu910Asp)
c.2961G>T (p.Glu987Asp)
c.1887G>T (p.Glu629Asp)
n.2942G>T
1g.151405948C>GCA341945776POGZc.3135G>C (p.Glu1045Asp)
c.2928G>C (p.Glu976Asp)
c.3087G>C (p.Glu1029Asp)
c.3108G>C (p.Glu1036Asp)
n.3235G>C
c.2802G>C (p.Glu934Asp)
c.3060G>C (p.Glu1020Asp)
c.2955G>C (p.Glu985Asp)
c.2901G>C (p.Glu967Asp)
c.2979G>C (p.Glu993Asp)
c.2730G>C (p.Glu910Asp)
c.2961G>C (p.Glu987Asp)
c.1887G>C (p.Glu629Asp)
n.2942G>C
1g.151405948C>TCA420909595POGZc.3135G>A (p.Glu1045=)
c.2928G>A (p.Glu976=)
c.3087G>A (p.Glu1029=)
c.3108G>A (p.Glu1036=)
n.3235G>A
c.2802G>A (p.Glu934=)
c.3060G>A (p.Glu1020=)
c.2955G>A (p.Glu985=)
c.2901G>A (p.Glu967=)
c.2979G>A (p.Glu993=)
c.2730G>A (p.Glu910=)
c.2961G>A (p.Glu987=)
c.1887G>A (p.Glu629=)
n.2942G>A
1g.151405949T>ACA341945777POGZc.3134A>T (p.Glu1045Val)
c.2927A>T (p.Glu976Val)
c.3086A>T (p.Glu1029Val)
c.3107A>T (p.Glu1036Val)
n.3234A>T
c.2801A>T (p.Glu934Val)
c.3059A>T (p.Glu1020Val)
c.2954A>T (p.Glu985Val)
c.2900A>T (p.Glu967Val)
c.2978A>T (p.Glu993Val)
c.2729A>T (p.Glu910Val)
c.2960A>T (p.Glu987Val)
c.1886A>T (p.Glu629Val)
n.2941A>T
1g.151405949T>CCA341945778POGZc.3134A>G (p.Glu1045Gly)
c.2927A>G (p.Glu976Gly)
c.3086A>G (p.Glu1029Gly)
c.3107A>G (p.Glu1036Gly)
n.3234A>G
c.2801A>G (p.Glu934Gly)
c.3059A>G (p.Glu1020Gly)
c.2954A>G (p.Glu985Gly)
c.2900A>G (p.Glu967Gly)
c.2978A>G (p.Glu993Gly)
c.2729A>G (p.Glu910Gly)
c.2960A>G (p.Glu987Gly)
c.1886A>G (p.Glu629Gly)
n.2941A>G
1g.151405949T>GCA341945779POGZc.3134A>C (p.Glu1045Ala)
c.2927A>C (p.Glu976Ala)
c.3086A>C (p.Glu1029Ala)
c.3107A>C (p.Glu1036Ala)
n.3234A>C
c.2801A>C (p.Glu934Ala)
c.3059A>C (p.Glu1020Ala)
c.2954A>C (p.Glu985Ala)
c.2900A>C (p.Glu967Ala)
c.2978A>C (p.Glu993Ala)
c.2729A>C (p.Glu910Ala)
c.2960A>C (p.Glu987Ala)
c.1886A>C (p.Glu629Ala)
n.2941A>C
1g.151405950C>ACA341945781POGZc.3133G>T (p.Glu1045Ter)
c.2926G>T (p.Glu976Ter)
c.3085G>T (p.Glu1029Ter)
c.3106G>T (p.Glu1036Ter)
n.3233G>T
c.2800G>T (p.Glu934Ter)
c.3058G>T (p.Glu1020Ter)
c.2953G>T (p.Glu985Ter)
c.2899G>T (p.Glu967Ter)
c.2977G>T (p.Glu993Ter)
c.2728G>T (p.Glu910Ter)
c.2959G>T (p.Glu987Ter)
c.1885G>T (p.Glu629Ter)
n.2940G>T
1g.151405950C>GCA341945786POGZc.3133G>C (p.Glu1045Gln)
c.2926G>C (p.Glu976Gln)
c.3085G>C (p.Glu1029Gln)
c.3106G>C (p.Glu1036Gln)
n.3233G>C
c.2800G>C (p.Glu934Gln)
c.3058G>C (p.Glu1020Gln)
c.2953G>C (p.Glu985Gln)
c.2899G>C (p.Glu967Gln)
c.2977G>C (p.Glu993Gln)
c.2728G>C (p.Glu910Gln)
c.2959G>C (p.Glu987Gln)
c.1885G>C (p.Glu629Gln)
n.2940G>C
1g.151405950C>TCA341945789POGZc.3133G>A (p.Glu1045Lys)
c.2926G>A (p.Glu976Lys)
c.3085G>A (p.Glu1029Lys)
c.3106G>A (p.Glu1036Lys)
n.3233G>A
c.2800G>A (p.Glu934Lys)
c.3058G>A (p.Glu1020Lys)
c.2953G>A (p.Glu985Lys)
c.2899G>A (p.Glu967Lys)
c.2977G>A (p.Glu993Lys)
c.2728G>A (p.Glu910Lys)
c.2959G>A (p.Glu987Lys)
c.1885G>A (p.Glu629Lys)
n.2940G>A
1g.151405951T>ACA341945798POGZc.3132A>T (p.Glu1044Asp)
c.2925A>T (p.Glu975Asp)
c.3084A>T (p.Glu1028Asp)
c.3105A>T (p.Glu1035Asp)
n.3232A>T
c.2799A>T (p.Glu933Asp)
c.3057A>T (p.Glu1019Asp)
c.2952A>T (p.Glu984Asp)
c.2898A>T (p.Glu966Asp)
c.2976A>T (p.Glu992Asp)
c.2727A>T (p.Glu909Asp)
c.2958A>T (p.Glu986Asp)
c.1884A>T (p.Glu628Asp)
n.2939A>T
1g.151405951T>CCA420909598POGZc.3132A>G (p.Glu1044=)
c.2925A>G (p.Glu975=)
c.3084A>G (p.Glu1028=)
c.3105A>G (p.Glu1035=)
n.3232A>G
c.2799A>G (p.Glu933=)
c.3057A>G (p.Glu1019=)
c.2952A>G (p.Glu984=)
c.2898A>G (p.Glu966=)
c.2976A>G (p.Glu992=)
c.2727A>G (p.Glu909=)
c.2958A>G (p.Glu986=)
c.1884A>G (p.Glu628=)
n.2939A>G
1g.151405951T>GCA341945806POGZc.3132A>C (p.Glu1044Asp)
c.2925A>C (p.Glu975Asp)
c.3084A>C (p.Glu1028Asp)
c.3105A>C (p.Glu1035Asp)
n.3232A>C
c.2799A>C (p.Glu933Asp)
c.3057A>C (p.Glu1019Asp)
c.2952A>C (p.Glu984Asp)
c.2898A>C (p.Glu966Asp)
c.2976A>C (p.Glu992Asp)
c.2727A>C (p.Glu909Asp)
c.2958A>C (p.Glu986Asp)
c.1884A>C (p.Glu628Asp)
n.2939A>C
1g.151405952T>ACA341945811POGZc.3131A>T (p.Glu1044Val)
c.2924A>T (p.Glu975Val)
c.3083A>T (p.Glu1028Val)
c.3104A>T (p.Glu1035Val)
n.3231A>T
c.2798A>T (p.Glu933Val)
c.3056A>T (p.Glu1019Val)
c.2951A>T (p.Glu984Val)
c.2897A>T (p.Glu966Val)
c.2975A>T (p.Glu992Val)
c.2726A>T (p.Glu909Val)
c.2957A>T (p.Glu986Val)
c.1883A>T (p.Glu628Val)
n.2938A>T
1g.151405952T>CCA341945812POGZc.3131A>G (p.Glu1044Gly)
c.2924A>G (p.Glu975Gly)
c.3083A>G (p.Glu1028Gly)
c.3104A>G (p.Glu1035Gly)
n.3231A>G
c.2798A>G (p.Glu933Gly)
c.3056A>G (p.Glu1019Gly)
c.2951A>G (p.Glu984Gly)
c.2897A>G (p.Glu966Gly)
c.2975A>G (p.Glu992Gly)
c.2726A>G (p.Glu909Gly)
c.2957A>G (p.Glu986Gly)
c.1883A>G (p.Glu628Gly)
n.2938A>G
1g.151405952T>GCA341945814POGZc.3131A>C (p.Glu1044Ala)
c.2924A>C (p.Glu975Ala)
c.3083A>C (p.Glu1028Ala)
c.3104A>C (p.Glu1035Ala)
n.3231A>C
c.2798A>C (p.Glu933Ala)
c.3056A>C (p.Glu1019Ala)
c.2951A>C (p.Glu984Ala)
c.2897A>C (p.Glu966Ala)
c.2975A>C (p.Glu992Ala)
c.2726A>C (p.Glu909Ala)
c.2957A>C (p.Glu986Ala)
c.1883A>C (p.Glu628Ala)
n.2938A>C
1g.151405953C>ACA341945836POGZc.3130G>T (p.Glu1044Ter)
c.2923G>T (p.Glu975Ter)
c.3082G>T (p.Glu1028Ter)
c.3103G>T (p.Glu1035Ter)
n.3230G>T
c.2797G>T (p.Glu933Ter)
c.3055G>T (p.Glu1019Ter)
c.2950G>T (p.Glu984Ter)
c.2896G>T (p.Glu966Ter)
c.2974G>T (p.Glu992Ter)
c.2725G>T (p.Glu909Ter)
c.2956G>T (p.Glu986Ter)
c.1882G>T (p.Glu628Ter)
n.2937G>T
1g.151405953C>GCA341945833POGZc.3130G>C (p.Glu1044Gln)
c.2923G>C (p.Glu975Gln)
c.3082G>C (p.Glu1028Gln)
c.3103G>C (p.Glu1035Gln)
n.3230G>C
c.2797G>C (p.Glu933Gln)
c.3055G>C (p.Glu1019Gln)
c.2950G>C (p.Glu984Gln)
c.2896G>C (p.Glu966Gln)
c.2974G>C (p.Glu992Gln)
c.2725G>C (p.Glu909Gln)
c.2956G>C (p.Glu986Gln)
c.1882G>C (p.Glu628Gln)
n.2937G>C
1g.151405953C>TCA341945819POGZc.3130G>A (p.Glu1044Lys)
c.2923G>A (p.Glu975Lys)
c.3082G>A (p.Glu1028Lys)
c.3103G>A (p.Glu1035Lys)
n.3230G>A
c.2797G>A (p.Glu933Lys)
c.3055G>A (p.Glu1019Lys)
c.2950G>A (p.Glu984Lys)
c.2896G>A (p.Glu966Lys)
c.2974G>A (p.Glu992Lys)
c.2725G>A (p.Glu909Lys)
c.2956G>A (p.Glu986Lys)
c.1882G>A (p.Glu628Lys)
n.2937G>A
1g.151405954T>ACA420909601POGZc.3129A>T (p.Ala1043=)
c.2922A>T (p.Ala974=)
c.3081A>T (p.Ala1027=)
c.3102A>T (p.Ala1034=)
n.3229A>T
c.2796A>T (p.Ala932=)
c.3054A>T (p.Ala1018=)
c.2949A>T (p.Ala983=)
c.2895A>T (p.Ala965=)
c.2973A>T (p.Ala991=)
c.2724A>T (p.Ala908=)
c.2955A>T (p.Ala985=)
c.1881A>T (p.Ala627=)
n.2936A>T
1g.151405954T>CCA420909602POGZc.3129A>G (p.Ala1043=)
c.2922A>G (p.Ala974=)
c.3081A>G (p.Ala1027=)
c.3102A>G (p.Ala1034=)
n.3229A>G
c.2796A>G (p.Ala932=)
c.3054A>G (p.Ala1018=)
c.2949A>G (p.Ala983=)
c.2895A>G (p.Ala965=)
c.2973A>G (p.Ala991=)
c.2724A>G (p.Ala908=)
c.2955A>G (p.Ala985=)
c.1881A>G (p.Ala627=)
n.2936A>G
1g.151405954T>GCA420909603POGZc.3129A>C (p.Ala1043=)
c.2922A>C (p.Ala974=)
c.3081A>C (p.Ala1027=)
c.3102A>C (p.Ala1034=)
n.3229A>C
c.2796A>C (p.Ala932=)
c.3054A>C (p.Ala1018=)
c.2949A>C (p.Ala983=)
c.2895A>C (p.Ala965=)
c.2973A>C (p.Ala991=)
c.2724A>C (p.Ala908=)
c.2955A>C (p.Ala985=)
c.1881A>C (p.Ala627=)
n.2936A>C
1g.151405955G>ACA341945841POGZc.3128C>T (p.Ala1043Val)
c.2921C>T (p.Ala974Val)
c.3080C>T (p.Ala1027Val)
c.3101C>T (p.Ala1034Val)
n.3228C>T
c.2795C>T (p.Ala932Val)
c.3053C>T (p.Ala1018Val)
c.2948C>T (p.Ala983Val)
c.2894C>T (p.Ala965Val)
c.2972C>T (p.Ala991Val)
c.2723C>T (p.Ala908Val)
c.2954C>T (p.Ala985Val)
c.1880C>T (p.Ala627Val)
n.2935C>T
1g.151405955G>CCA341945843POGZc.3128C>G (p.Ala1043Gly)
c.2921C>G (p.Ala974Gly)
c.3080C>G (p.Ala1027Gly)
c.3101C>G (p.Ala1034Gly)
n.3228C>G
c.2795C>G (p.Ala932Gly)
c.3053C>G (p.Ala1018Gly)
c.2948C>G (p.Ala983Gly)
c.2894C>G (p.Ala965Gly)
c.2972C>G (p.Ala991Gly)
c.2723C>G (p.Ala908Gly)
c.2954C>G (p.Ala985Gly)
c.1880C>G (p.Ala627Gly)
n.2935C>G
1g.151405955G>TCA341945845POGZc.3128C>A (p.Ala1043Glu)
c.2921C>A (p.Ala974Glu)
c.3080C>A (p.Ala1027Glu)
c.3101C>A (p.Ala1034Glu)
n.3228C>A
c.2795C>A (p.Ala932Glu)
c.3053C>A (p.Ala1018Glu)
c.2948C>A (p.Ala983Glu)
c.2894C>A (p.Ala965Glu)
c.2972C>A (p.Ala991Glu)
c.2723C>A (p.Ala908Glu)
c.2954C>A (p.Ala985Glu)
c.1880C>A (p.Ala627Glu)
n.2935C>A
1g.151405956C>ACA341945850POGZc.3127G>T (p.Ala1043Ser)
c.2920G>T (p.Ala974Ser)
c.3079G>T (p.Ala1027Ser)
c.3100G>T (p.Ala1034Ser)
n.3227G>T
c.2794G>T (p.Ala932Ser)
c.3052G>T (p.Ala1018Ser)
c.2947G>T (p.Ala983Ser)
c.2893G>T (p.Ala965Ser)
c.2971G>T (p.Ala991Ser)
c.2722G>T (p.Ala908Ser)
c.2953G>T (p.Ala985Ser)
c.1879G>T (p.Ala627Ser)
n.2934G>T
1g.151405956C>GCA341945853POGZc.3127G>C (p.Ala1043Pro)
c.2920G>C (p.Ala974Pro)
c.3079G>C (p.Ala1027Pro)
c.3100G>C (p.Ala1034Pro)
n.3227G>C
c.2794G>C (p.Ala932Pro)
c.3052G>C (p.Ala1018Pro)
c.2947G>C (p.Ala983Pro)
c.2893G>C (p.Ala965Pro)
c.2971G>C (p.Ala991Pro)
c.2722G>C (p.Ala908Pro)
c.2953G>C (p.Ala985Pro)
c.1879G>C (p.Ala627Pro)
n.2934G>C
1g.151405956C>TCA341945856POGZc.3127G>A (p.Ala1043Thr)
c.2920G>A (p.Ala974Thr)
c.3079G>A (p.Ala1027Thr)
c.3100G>A (p.Ala1034Thr)
n.3227G>A
c.2794G>A (p.Ala932Thr)
c.3052G>A (p.Ala1018Thr)
c.2947G>A (p.Ala983Thr)
c.2893G>A (p.Ala965Thr)
c.2971G>A (p.Ala991Thr)
c.2722G>A (p.Ala908Thr)
c.2953G>A (p.Ala985Thr)
c.1879G>A (p.Ala627Thr)
n.2934G>A
1g.151405957C>ACA341945864POGZc.3126G>T (p.Glu1042Asp)
c.2919G>T (p.Glu973Asp)
c.3078G>T (p.Glu1026Asp)
c.3099G>T (p.Glu1033Asp)
n.3226G>T
c.2793G>T (p.Glu931Asp)
c.3051G>T (p.Glu1017Asp)
c.2946G>T (p.Glu982Asp)
c.2892G>T (p.Glu964Asp)
c.2970G>T (p.Glu990Asp)
c.2721G>T (p.Glu907Asp)
c.2952G>T (p.Glu984Asp)
c.1878G>T (p.Glu626Asp)
n.2933G>T
1g.151405957C>GCA341945874POGZc.3126G>C (p.Glu1042Asp)
c.2919G>C (p.Glu973Asp)
c.3078G>C (p.Glu1026Asp)
c.3099G>C (p.Glu1033Asp)
n.3226G>C
c.2793G>C (p.Glu931Asp)
c.3051G>C (p.Glu1017Asp)
c.2946G>C (p.Glu982Asp)
c.2892G>C (p.Glu964Asp)
c.2970G>C (p.Glu990Asp)
c.2721G>C (p.Glu907Asp)
c.2952G>C (p.Glu984Asp)
c.1878G>C (p.Glu626Asp)
n.2933G>C
1g.151405957C>TCA420909605POGZc.3126G>A (p.Glu1042=)
c.2919G>A (p.Glu973=)
c.3078G>A (p.Glu1026=)
c.3099G>A (p.Glu1033=)
n.3226G>A
c.2793G>A (p.Glu931=)
c.3051G>A (p.Glu1017=)
c.2946G>A (p.Glu982=)
c.2892G>A (p.Glu964=)
c.2970G>A (p.Glu990=)
c.2721G>A (p.Glu907=)
c.2952G>A (p.Glu984=)
c.1878G>A (p.Glu626=)
n.2933G>A
1g.151405958T>ACA341945880POGZc.3125A>T (p.Glu1042Val)
c.2918A>T (p.Glu973Val)
c.3077A>T (p.Glu1026Val)
c.3098A>T (p.Glu1033Val)
n.3225A>T
c.2792A>T (p.Glu931Val)
c.3050A>T (p.Glu1017Val)
c.2945A>T (p.Glu982Val)
c.2891A>T (p.Glu964Val)
c.2969A>T (p.Glu990Val)
c.2720A>T (p.Glu907Val)
c.2951A>T (p.Glu984Val)
c.1877A>T (p.Glu626Val)
n.2932A>T
1g.151405958T>CCA341945887POGZc.3125A>G (p.Glu1042Gly)
c.2918A>G (p.Glu973Gly)
c.3077A>G (p.Glu1026Gly)
c.3098A>G (p.Glu1033Gly)
n.3225A>G
c.2792A>G (p.Glu931Gly)
c.3050A>G (p.Glu1017Gly)
c.2945A>G (p.Glu982Gly)
c.2891A>G (p.Glu964Gly)
c.2969A>G (p.Glu990Gly)
c.2720A>G (p.Glu907Gly)
c.2951A>G (p.Glu984Gly)
c.1877A>G (p.Glu626Gly)
n.2932A>G
 gnomAD v4
1g.151405958T>GCA341945891POGZc.3125A>C (p.Glu1042Ala)
c.2918A>C (p.Glu973Ala)
c.3077A>C (p.Glu1026Ala)
c.3098A>C (p.Glu1033Ala)
n.3225A>C
c.2792A>C (p.Glu931Ala)
c.3050A>C (p.Glu1017Ala)
c.2945A>C (p.Glu982Ala)
c.2891A>C (p.Glu964Ala)
c.2969A>C (p.Glu990Ala)
c.2720A>C (p.Glu907Ala)
c.2951A>C (p.Glu984Ala)
c.1877A>C (p.Glu626Ala)
n.2932A>C
1g.151405959C>ACA341945916POGZc.3124G>T (p.Glu1042Ter)
c.2917G>T (p.Glu973Ter)
c.3076G>T (p.Glu1026Ter)
c.3097G>T (p.Glu1033Ter)
n.3224G>T
c.2791G>T (p.Glu931Ter)
c.3049G>T (p.Glu1017Ter)
c.2944G>T (p.Glu982Ter)
c.2890G>T (p.Glu964Ter)
c.2968G>T (p.Glu990Ter)
c.2719G>T (p.Glu907Ter)
c.2950G>T (p.Glu984Ter)
c.1876G>T (p.Glu626Ter)
n.2931G>T
1g.151405959C>GCA341945918POGZc.3124G>C (p.Glu1042Gln)
c.2917G>C (p.Glu973Gln)
c.3076G>C (p.Glu1026Gln)
c.3097G>C (p.Glu1033Gln)
n.3224G>C
c.2791G>C (p.Glu931Gln)
c.3049G>C (p.Glu1017Gln)
c.2944G>C (p.Glu982Gln)
c.2890G>C (p.Glu964Gln)
c.2968G>C (p.Glu990Gln)
c.2719G>C (p.Glu907Gln)
c.2950G>C (p.Glu984Gln)
c.1876G>C (p.Glu626Gln)
n.2931G>C
1g.151405959C>TCA341945921POGZc.3124G>A (p.Glu1042Lys)
c.2917G>A (p.Glu973Lys)
c.3076G>A (p.Glu1026Lys)
c.3097G>A (p.Glu1033Lys)
n.3224G>A
c.2791G>A (p.Glu931Lys)
c.3049G>A (p.Glu1017Lys)
c.2944G>A (p.Glu982Lys)
c.2890G>A (p.Glu964Lys)
c.2968G>A (p.Glu990Lys)
c.2719G>A (p.Glu907Lys)
c.2950G>A (p.Glu984Lys)
c.1876G>A (p.Glu626Lys)
n.2931G>A
1g.151405960A=CA2479570464POGZc.3123T= (p.Phe1041=)
c.2916T= (p.Phe972=)
c.3075T= (p.Phe1025=)
c.3096T= (p.Phe1032=)
n.3223T=
c.2790T= (p.Phe930=)
c.3048T= (p.Phe1016=)
c.2943T= (p.Phe981=)
c.2889T= (p.Phe963=)
c.2967T= (p.Phe989=)
c.2718T= (p.Phe906=)
c.2949T= (p.Phe983=)
c.1875T= (p.Phe625=)
n.2930T=
1g.151405960A>CCA341945925POGZc.3123T>G (p.Phe1041Leu)
c.2916T>G (p.Phe972Leu)
c.3075T>G (p.Phe1025Leu)
c.3096T>G (p.Phe1032Leu)
n.3223T>G
c.2790T>G (p.Phe930Leu)
c.3048T>G (p.Phe1016Leu)
c.2943T>G (p.Phe981Leu)
c.2889T>G (p.Phe963Leu)
c.2967T>G (p.Phe989Leu)
c.2718T>G (p.Phe906Leu)
c.2949T>G (p.Phe983Leu)
c.1875T>G (p.Phe625Leu)
n.2930T>G
1g.151405960A>GCA420909611POGZc.3123T>C (p.Phe1041=)
c.2916T>C (p.Phe972=)
c.3075T>C (p.Phe1025=)
c.3096T>C (p.Phe1032=)
n.3223T>C
c.2790T>C (p.Phe930=)
c.3048T>C (p.Phe1016=)
c.2943T>C (p.Phe981=)
c.2889T>C (p.Phe963=)
c.2967T>C (p.Phe989=)
c.2718T>C (p.Phe906=)
c.2949T>C (p.Phe983=)
c.1875T>C (p.Phe625=)
n.2930T>C
 dbSNP
1g.151405960A>TCA341945930POGZc.3123T>A (p.Phe1041Leu)
c.2916T>A (p.Phe972Leu)
c.3075T>A (p.Phe1025Leu)
c.3096T>A (p.Phe1032Leu)
n.3223T>A
c.2790T>A (p.Phe930Leu)
c.3048T>A (p.Phe1016Leu)
c.2943T>A (p.Phe981Leu)
c.2889T>A (p.Phe963Leu)
c.2967T>A (p.Phe989Leu)
c.2718T>A (p.Phe906Leu)
c.2949T>A (p.Phe983Leu)
c.1875T>A (p.Phe625Leu)
n.2930T>A
1g.151405961A>CCA341945934POGZc.3122T>G (p.Phe1041Cys)
c.2915T>G (p.Phe972Cys)
c.3074T>G (p.Phe1025Cys)
c.3095T>G (p.Phe1032Cys)
n.3222T>G
c.2789T>G (p.Phe930Cys)
c.3047T>G (p.Phe1016Cys)
c.2942T>G (p.Phe981Cys)
c.2888T>G (p.Phe963Cys)
c.2966T>G (p.Phe989Cys)
c.2717T>G (p.Phe906Cys)
c.2948T>G (p.Phe983Cys)
c.1874T>G (p.Phe625Cys)
n.2929T>G
1g.151405961A>GCA341945935POGZc.3122T>C (p.Phe1041Ser)
c.2915T>C (p.Phe972Ser)
c.3074T>C (p.Phe1025Ser)
c.3095T>C (p.Phe1032Ser)
n.3222T>C
c.2789T>C (p.Phe930Ser)
c.3047T>C (p.Phe1016Ser)
c.2942T>C (p.Phe981Ser)
c.2888T>C (p.Phe963Ser)
c.2966T>C (p.Phe989Ser)
c.2717T>C (p.Phe906Ser)
c.2948T>C (p.Phe983Ser)
c.1874T>C (p.Phe625Ser)
n.2929T>C
 gnomAD v4
1g.151405961A>TCA341945936POGZc.3122T>A (p.Phe1041Tyr)
c.2915T>A (p.Phe972Tyr)
c.3074T>A (p.Phe1025Tyr)
c.3095T>A (p.Phe1032Tyr)
n.3222T>A
c.2789T>A (p.Phe930Tyr)
c.3047T>A (p.Phe1016Tyr)
c.2942T>A (p.Phe981Tyr)
c.2888T>A (p.Phe963Tyr)
c.2966T>A (p.Phe989Tyr)
c.2717T>A (p.Phe906Tyr)
c.2948T>A (p.Phe983Tyr)
c.1874T>A (p.Phe625Tyr)
n.2929T>A
1g.151405962A>CCA341945939POGZc.3121T>G (p.Phe1041Val)
c.2914T>G (p.Phe972Val)
c.3073T>G (p.Phe1025Val)
c.3094T>G (p.Phe1032Val)
n.3221T>G
c.2788T>G (p.Phe930Val)
c.3046T>G (p.Phe1016Val)
c.2941T>G (p.Phe981Val)
c.2887T>G (p.Phe963Val)
c.2965T>G (p.Phe989Val)
c.2716T>G (p.Phe906Val)
c.2947T>G (p.Phe983Val)
c.1873T>G (p.Phe625Val)
n.2928T>G
1g.151405962A>GCA341945942POGZc.3121T>C (p.Phe1041Leu)
c.2914T>C (p.Phe972Leu)
c.3073T>C (p.Phe1025Leu)
c.3094T>C (p.Phe1032Leu)
n.3221T>C
c.2788T>C (p.Phe930Leu)
c.3046T>C (p.Phe1016Leu)
c.2941T>C (p.Phe981Leu)
c.2887T>C (p.Phe963Leu)
c.2965T>C (p.Phe989Leu)
c.2716T>C (p.Phe906Leu)
c.2947T>C (p.Phe983Leu)
c.1873T>C (p.Phe625Leu)
n.2928T>C
1g.151405962A>TCA341945947POGZc.3121T>A (p.Phe1041Ile)
c.2914T>A (p.Phe972Ile)
c.3073T>A (p.Phe1025Ile)
c.3094T>A (p.Phe1032Ile)
n.3221T>A
c.2788T>A (p.Phe930Ile)
c.3046T>A (p.Phe1016Ile)
c.2941T>A (p.Phe981Ile)
c.2887T>A (p.Phe963Ile)
c.2965T>A (p.Phe989Ile)
c.2716T>A (p.Phe906Ile)
c.2947T>A (p.Phe983Ile)
c.1873T>A (p.Phe625Ile)
n.2928T>A
1g.151405963G>ACA1091011POGZc.3120C>T (p.Ser1040=)
c.2913C>T (p.Ser971=)
c.3072C>T (p.Ser1024=)
c.3093C>T (p.Ser1031=)
n.3220C>T
c.2787C>T (p.Ser929=)
c.3045C>T (p.Ser1015=)
c.2940C>T (p.Ser980=)
c.2886C>T (p.Ser962=)
c.2964C>T (p.Ser988=)
c.2715C>T (p.Ser905=)
c.2946C>T (p.Ser982=)
c.1872C>T (p.Ser624=)
n.2927C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.151405963G>CCA341945948POGZc.3120C>G (p.Ser1040Arg)
c.2913C>G (p.Ser971Arg)
c.3072C>G (p.Ser1024Arg)
c.3093C>G (p.Ser1031Arg)
n.3220C>G
c.2787C>G (p.Ser929Arg)
c.3045C>G (p.Ser1015Arg)
c.2940C>G (p.Ser980Arg)
c.2886C>G (p.Ser962Arg)
c.2964C>G (p.Ser988Arg)
c.2715C>G (p.Ser905Arg)
c.2946C>G (p.Ser982Arg)
c.1872C>G (p.Ser624Arg)
n.2927C>G
1g.151405963G=CA2479570465POGZc.3120C= (p.Ser1040=)
c.2913C= (p.Ser971=)
c.3072C= (p.Ser1024=)
c.3093C= (p.Ser1031=)
n.3220C=
c.2787C= (p.Ser929=)
c.3045C= (p.Ser1015=)
c.2940C= (p.Ser980=)
c.2886C= (p.Ser962=)
c.2964C= (p.Ser988=)
c.2715C= (p.Ser905=)
c.2946C= (p.Ser982=)
c.1872C= (p.Ser624=)
n.2927C=
1g.151405963G>TCA341945949POGZc.3120C>A (p.Ser1040Arg)
c.2913C>A (p.Ser971Arg)
c.3072C>A (p.Ser1024Arg)
c.3093C>A (p.Ser1031Arg)
n.3220C>A
c.2787C>A (p.Ser929Arg)
c.3045C>A (p.Ser1015Arg)
c.2940C>A (p.Ser980Arg)
c.2886C>A (p.Ser962Arg)
c.2964C>A (p.Ser988Arg)
c.2715C>A (p.Ser905Arg)
c.2946C>A (p.Ser982Arg)
c.1872C>A (p.Ser624Arg)
n.2927C>A
1g.151405964C>ACA341945952POGZc.3119G>T (p.Ser1040Ile)
c.2912G>T (p.Ser971Ile)
c.3071G>T (p.Ser1024Ile)
c.3092G>T (p.Ser1031Ile)
n.3219G>T
c.2786G>T (p.Ser929Ile)
c.3044G>T (p.Ser1015Ile)
c.2939G>T (p.Ser980Ile)
c.2885G>T (p.Ser962Ile)
c.2963G>T (p.Ser988Ile)
c.2714G>T (p.Ser905Ile)
c.2945G>T (p.Ser982Ile)
c.1871G>T (p.Ser624Ile)
n.2926G>T
1g.151405964C>GCA341945954POGZc.3119G>C (p.Ser1040Thr)
c.2912G>C (p.Ser971Thr)
c.3071G>C (p.Ser1024Thr)
c.3092G>C (p.Ser1031Thr)
n.3219G>C
c.2786G>C (p.Ser929Thr)
c.3044G>C (p.Ser1015Thr)
c.2939G>C (p.Ser980Thr)
c.2885G>C (p.Ser962Thr)
c.2963G>C (p.Ser988Thr)
c.2714G>C (p.Ser905Thr)
c.2945G>C (p.Ser982Thr)
c.1871G>C (p.Ser624Thr)
n.2926G>C
1g.151405964C>TCA341945976POGZc.3119G>A (p.Ser1040Asn)
c.2912G>A (p.Ser971Asn)
c.3071G>A (p.Ser1024Asn)
c.3092G>A (p.Ser1031Asn)
n.3219G>A
c.2786G>A (p.Ser929Asn)
c.3044G>A (p.Ser1015Asn)
c.2939G>A (p.Ser980Asn)
c.2885G>A (p.Ser962Asn)
c.2963G>A (p.Ser988Asn)
c.2714G>A (p.Ser905Asn)
c.2945G>A (p.Ser982Asn)
c.1871G>A (p.Ser624Asn)
n.2926G>A
 COSMIC COSMIC
1g.151405965T>ACA341945993POGZc.3118A>T (p.Ser1040Cys)
c.2911A>T (p.Ser971Cys)
c.3070A>T (p.Ser1024Cys)
c.3091A>T (p.Ser1031Cys)
n.3218A>T
c.2785A>T (p.Ser929Cys)
c.3043A>T (p.Ser1015Cys)
c.2938A>T (p.Ser980Cys)
c.2884A>T (p.Ser962Cys)
c.2962A>T (p.Ser988Cys)
c.2713A>T (p.Ser905Cys)
c.2944A>T (p.Ser982Cys)
c.1870A>T (p.Ser624Cys)
n.2925A>T
1g.151405965T>CCA341945989POGZc.3118A>G (p.Ser1040Gly)
c.2911A>G (p.Ser971Gly)
c.3070A>G (p.Ser1024Gly)
c.3091A>G (p.Ser1031Gly)
n.3218A>G
c.2785A>G (p.Ser929Gly)
c.3043A>G (p.Ser1015Gly)
c.2938A>G (p.Ser980Gly)
c.2884A>G (p.Ser962Gly)
c.2962A>G (p.Ser988Gly)
c.2713A>G (p.Ser905Gly)
c.2944A>G (p.Ser982Gly)
c.1870A>G (p.Ser624Gly)
n.2925A>G
1g.151405965T>GCA341945984POGZc.3118A>C (p.Ser1040Arg)
c.2911A>C (p.Ser971Arg)
c.3070A>C (p.Ser1024Arg)
c.3091A>C (p.Ser1031Arg)
n.3218A>C
c.2785A>C (p.Ser929Arg)
c.3043A>C (p.Ser1015Arg)
c.2938A>C (p.Ser980Arg)
c.2884A>C (p.Ser962Arg)
c.2962A>C (p.Ser988Arg)
c.2713A>C (p.Ser905Arg)
c.2944A>C (p.Ser982Arg)
c.1870A>C (p.Ser624Arg)
n.2925A>C
1g.151405966C>ACA420909614POGZc.3117G>T (p.Leu1039=)
c.2910G>T (p.Leu970=)
c.3069G>T (p.Leu1023=)
c.3090G>T (p.Leu1030=)
n.3217G>T
c.2784G>T (p.Leu928=)
c.3042G>T (p.Leu1014=)
c.2937G>T (p.Leu979=)
c.2883G>T (p.Leu961=)
c.2961G>T (p.Leu987=)
c.2712G>T (p.Leu904=)
c.2943G>T (p.Leu981=)
c.1869G>T (p.Leu623=)
n.2924G>T
1g.151405966C>GCA420909615POGZc.3117G>C (p.Leu1039=)
c.2910G>C (p.Leu970=)
c.3069G>C (p.Leu1023=)
c.3090G>C (p.Leu1030=)
n.3217G>C
c.2784G>C (p.Leu928=)
c.3042G>C (p.Leu1014=)
c.2937G>C (p.Leu979=)
c.2883G>C (p.Leu961=)
c.2961G>C (p.Leu987=)
c.2712G>C (p.Leu904=)
c.2943G>C (p.Leu981=)
c.1869G>C (p.Leu623=)
n.2924G>C
1g.151405966C>TCA420909616POGZc.3117G>A (p.Leu1039=)
c.2910G>A (p.Leu970=)
c.3069G>A (p.Leu1023=)
c.3090G>A (p.Leu1030=)
n.3217G>A
c.2784G>A (p.Leu928=)
c.3042G>A (p.Leu1014=)
c.2937G>A (p.Leu979=)
c.2883G>A (p.Leu961=)
c.2961G>A (p.Leu987=)
c.2712G>A (p.Leu904=)
c.2943G>A (p.Leu981=)
c.1869G>A (p.Leu623=)
n.2924G>A
1g.151405967A>CCA341946000POGZc.3116T>G (p.Leu1039Arg)
c.2909T>G (p.Leu970Arg)
c.3068T>G (p.Leu1023Arg)
c.3089T>G (p.Leu1030Arg)
n.3216T>G
c.2783T>G (p.Leu928Arg)
c.3041T>G (p.Leu1014Arg)
c.2936T>G (p.Leu979Arg)
c.2882T>G (p.Leu961Arg)
c.2960T>G (p.Leu987Arg)
c.2711T>G (p.Leu904Arg)
c.2942T>G (p.Leu981Arg)
c.1868T>G (p.Leu623Arg)
n.2923T>G
1g.151405967A>GCA341946024POGZc.3116T>C (p.Leu1039Pro)
c.2909T>C (p.Leu970Pro)
c.3068T>C (p.Leu1023Pro)
c.3089T>C (p.Leu1030Pro)
n.3216T>C
c.2783T>C (p.Leu928Pro)
c.3041T>C (p.Leu1014Pro)
c.2936T>C (p.Leu979Pro)
c.2882T>C (p.Leu961Pro)
c.2960T>C (p.Leu987Pro)
c.2711T>C (p.Leu904Pro)
c.2942T>C (p.Leu981Pro)
c.1868T>C (p.Leu623Pro)
n.2923T>C
1g.151405967A>TCA341946027POGZc.3116T>A (p.Leu1039Gln)
c.2909T>A (p.Leu970Gln)
c.3068T>A (p.Leu1023Gln)
c.3089T>A (p.Leu1030Gln)
n.3216T>A
c.2783T>A (p.Leu928Gln)
c.3041T>A (p.Leu1014Gln)
c.2936T>A (p.Leu979Gln)
c.2882T>A (p.Leu961Gln)
c.2960T>A (p.Leu987Gln)
c.2711T>A (p.Leu904Gln)
c.2942T>A (p.Leu981Gln)
c.1868T>A (p.Leu623Gln)
n.2923T>A
1g.151405968G>ACA420909621POGZc.3115C>T (p.Leu1039=)
c.2908C>T (p.Leu970=)
c.3067C>T (p.Leu1023=)
c.3088C>T (p.Leu1030=)
n.3215C>T
c.2782C>T (p.Leu928=)
c.3040C>T (p.Leu1014=)
c.2935C>T (p.Leu979=)
c.2881C>T (p.Leu961=)
c.2959C>T (p.Leu987=)
c.2710C>T (p.Leu904=)
c.2941C>T (p.Leu981=)
c.1867C>T (p.Leu623=)
n.2922C>T
 dbSNP gnomAD v2 gnomAD v4
1g.151405968G>CCA341946031POGZc.3115C>G (p.Leu1039Val)
c.2908C>G (p.Leu970Val)
c.3067C>G (p.Leu1023Val)
c.3088C>G (p.Leu1030Val)
n.3215C>G
c.2782C>G (p.Leu928Val)
c.3040C>G (p.Leu1014Val)
c.2935C>G (p.Leu979Val)
c.2881C>G (p.Leu961Val)
c.2959C>G (p.Leu987Val)
c.2710C>G (p.Leu904Val)
c.2941C>G (p.Leu981Val)
c.1867C>G (p.Leu623Val)
n.2922C>G
1g.151405968G=CA2479570466POGZc.3115C= (p.Leu1039=)
c.2908C= (p.Leu970=)
c.3067C= (p.Leu1023=)
c.3088C= (p.Leu1030=)
n.3215C=
c.2782C= (p.Leu928=)
c.3040C= (p.Leu1014=)
c.2935C= (p.Leu979=)
c.2881C= (p.Leu961=)
c.2959C= (p.Leu987=)
c.2710C= (p.Leu904=)
c.2941C= (p.Leu981=)
c.1867C= (p.Leu623=)
n.2922C=
1g.151405968G>TCA341946034POGZc.3115C>A (p.Leu1039Met)
c.2908C>A (p.Leu970Met)
c.3067C>A (p.Leu1023Met)
c.3088C>A (p.Leu1030Met)
n.3215C>A
c.2782C>A (p.Leu928Met)
c.3040C>A (p.Leu1014Met)
c.2935C>A (p.Leu979Met)
c.2881C>A (p.Leu961Met)
c.2959C>A (p.Leu987Met)
c.2710C>A (p.Leu904Met)
c.2941C>A (p.Leu981Met)
c.1867C>A (p.Leu623Met)
n.2922C>A
1g.151405969A=CA2479570467POGZc.3114T= (p.Tyr1038=)
c.2907T= (p.Tyr969=)
c.3066T= (p.Tyr1022=)
c.3087T= (p.Tyr1029=)
n.3214T=
c.2781T= (p.Tyr927=)
c.3039T= (p.Tyr1013=)
c.2934T= (p.Tyr978=)
c.2880T= (p.Tyr960=)
c.2958T= (p.Tyr986=)
c.2709T= (p.Tyr903=)
c.2940T= (p.Tyr980=)
c.1866T= (p.Tyr622=)
n.2921T=
1g.151405969A>CCA341946039POGZc.3114T>G (p.Tyr1038Ter)
c.2907T>G (p.Tyr969Ter)
c.3066T>G (p.Tyr1022Ter)
c.3087T>G (p.Tyr1029Ter)
n.3214T>G
c.2781T>G (p.Tyr927Ter)
c.3039T>G (p.Tyr1013Ter)
c.2934T>G (p.Tyr978Ter)
c.2880T>G (p.Tyr960Ter)
c.2958T>G (p.Tyr986Ter)
c.2709T>G (p.Tyr903Ter)
c.2940T>G (p.Tyr980Ter)
c.1866T>G (p.Tyr622Ter)
n.2921T>G
1g.151405969A>GCA1091012POGZc.3114T>C (p.Tyr1038=)
c.2907T>C (p.Tyr969=)
c.3066T>C (p.Tyr1022=)
c.3087T>C (p.Tyr1029=)
n.3214T>C
c.2781T>C (p.Tyr927=)
c.3039T>C (p.Tyr1013=)
c.2934T>C (p.Tyr978=)
c.2880T>C (p.Tyr960=)
c.2958T>C (p.Tyr986=)
c.2709T>C (p.Tyr903=)
c.2940T>C (p.Tyr980=)
c.1866T>C (p.Tyr622=)
n.2921T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.151405969A>TCA341946051POGZc.3114T>A (p.Tyr1038Ter)
c.2907T>A (p.Tyr969Ter)
c.3066T>A (p.Tyr1022Ter)
c.3087T>A (p.Tyr1029Ter)
n.3214T>A
c.2781T>A (p.Tyr927Ter)
c.3039T>A (p.Tyr1013Ter)
c.2934T>A (p.Tyr978Ter)
c.2880T>A (p.Tyr960Ter)
c.2958T>A (p.Tyr986Ter)
c.2709T>A (p.Tyr903Ter)
c.2940T>A (p.Tyr980Ter)
c.1866T>A (p.Tyr622Ter)
n.2921T>A
1g.151405970T>ACA341946058POGZc.3113A>T (p.Tyr1038Phe)
c.2906A>T (p.Tyr969Phe)
c.3065A>T (p.Tyr1022Phe)
c.3086A>T (p.Tyr1029Phe)
n.3213A>T
c.2780A>T (p.Tyr927Phe)
c.3038A>T (p.Tyr1013Phe)
c.2933A>T (p.Tyr978Phe)
c.2879A>T (p.Tyr960Phe)
c.2957A>T (p.Tyr986Phe)
c.2708A>T (p.Tyr903Phe)
c.2939A>T (p.Tyr980Phe)
c.1865A>T (p.Tyr622Phe)
n.2920A>T
1g.151405970T>CCA341946069POGZc.3113A>G (p.Tyr1038Cys)
c.2906A>G (p.Tyr969Cys)
c.3065A>G (p.Tyr1022Cys)
c.3086A>G (p.Tyr1029Cys)
n.3213A>G
c.2780A>G (p.Tyr927Cys)
c.3038A>G (p.Tyr1013Cys)
c.2933A>G (p.Tyr978Cys)
c.2879A>G (p.Tyr960Cys)
c.2957A>G (p.Tyr986Cys)
c.2708A>G (p.Tyr903Cys)
c.2939A>G (p.Tyr980Cys)
c.1865A>G (p.Tyr622Cys)
n.2920A>G
1g.151405970T>GCA341946068POGZc.3113A>C (p.Tyr1038Ser)
c.2906A>C (p.Tyr969Ser)
c.3065A>C (p.Tyr1022Ser)
c.3086A>C (p.Tyr1029Ser)
n.3213A>C
c.2780A>C (p.Tyr927Ser)
c.3038A>C (p.Tyr1013Ser)
c.2933A>C (p.Tyr978Ser)
c.2879A>C (p.Tyr960Ser)
c.2957A>C (p.Tyr986Ser)
c.2708A>C (p.Tyr903Ser)
c.2939A>C (p.Tyr980Ser)
c.1865A>C (p.Tyr622Ser)
n.2920A>C
1g.151405971A>CCA341946072POGZc.3112T>G (p.Tyr1038Asp)
c.2905T>G (p.Tyr969Asp)
c.3064T>G (p.Tyr1022Asp)
c.3085T>G (p.Tyr1029Asp)
n.3212T>G
c.2779T>G (p.Tyr927Asp)
c.3037T>G (p.Tyr1013Asp)
c.2932T>G (p.Tyr978Asp)
c.2878T>G (p.Tyr960Asp)
c.2956T>G (p.Tyr986Asp)
c.2707T>G (p.Tyr903Asp)
c.2938T>G (p.Tyr980Asp)
c.1864T>G (p.Tyr622Asp)
n.2919T>G
1g.151405971A>GCA341946083POGZc.3112T>C (p.Tyr1038His)
c.2905T>C (p.Tyr969His)
c.3064T>C (p.Tyr1022His)
c.3085T>C (p.Tyr1029His)
n.3212T>C
c.2779T>C (p.Tyr927His)
c.3037T>C (p.Tyr1013His)
c.2932T>C (p.Tyr978His)
c.2878T>C (p.Tyr960His)
c.2956T>C (p.Tyr986His)
c.2707T>C (p.Tyr903His)
c.2938T>C (p.Tyr980His)
c.1864T>C (p.Tyr622His)
n.2919T>C
1g.151405971A>TCA341946084POGZc.3112T>A (p.Tyr1038Asn)
c.2905T>A (p.Tyr969Asn)
c.3064T>A (p.Tyr1022Asn)
c.3085T>A (p.Tyr1029Asn)
n.3212T>A
c.2779T>A (p.Tyr927Asn)
c.3037T>A (p.Tyr1013Asn)
c.2932T>A (p.Tyr978Asn)
c.2878T>A (p.Tyr960Asn)
c.2956T>A (p.Tyr986Asn)
c.2707T>A (p.Tyr903Asn)
c.2938T>A (p.Tyr980Asn)
c.1864T>A (p.Tyr622Asn)
n.2919T>A
1g.151405972T>ACA341946085POGZc.3111A>T (p.Lys1037Asn)
c.2904A>T (p.Lys968Asn)
c.3063A>T (p.Lys1021Asn)
c.3084A>T (p.Lys1028Asn)
n.3211A>T
c.2778A>T (p.Lys926Asn)
c.3036A>T (p.Lys1012Asn)
c.2931A>T (p.Lys977Asn)
c.2877A>T (p.Lys959Asn)
c.2955A>T (p.Lys985Asn)
c.2706A>T (p.Lys902Asn)
c.2937A>T (p.Lys979Asn)
c.1863A>T (p.Lys621Asn)
n.2918A>T
1g.151405972T>CCA420909625POGZc.3111A>G (p.Lys1037=)
c.2904A>G (p.Lys968=)
c.3063A>G (p.Lys1021=)
c.3084A>G (p.Lys1028=)
n.3211A>G
c.2778A>G (p.Lys926=)
c.3036A>G (p.Lys1012=)
c.2931A>G (p.Lys977=)
c.2877A>G (p.Lys959=)
c.2955A>G (p.Lys985=)
c.2706A>G (p.Lys902=)
c.2937A>G (p.Lys979=)
c.1863A>G (p.Lys621=)
n.2918A>G
1g.151405972T>GCA341946086POGZc.3111A>C (p.Lys1037Asn)
c.2904A>C (p.Lys968Asn)
c.3063A>C (p.Lys1021Asn)
c.3084A>C (p.Lys1028Asn)
n.3211A>C
c.2778A>C (p.Lys926Asn)
c.3036A>C (p.Lys1012Asn)
c.2931A>C (p.Lys977Asn)
c.2877A>C (p.Lys959Asn)
c.2955A>C (p.Lys985Asn)
c.2706A>C (p.Lys902Asn)
c.2937A>C (p.Lys979Asn)
c.1863A>C (p.Lys621Asn)
n.2918A>C
1g.151405973T>ACA341946094POGZc.3110A>T (p.Lys1037Ile)
c.2903A>T (p.Lys968Ile)
c.3062A>T (p.Lys1021Ile)
c.3083A>T (p.Lys1028Ile)
n.3210A>T
c.2777A>T (p.Lys926Ile)
c.3035A>T (p.Lys1012Ile)
c.2930A>T (p.Lys977Ile)
c.2876A>T (p.Lys959Ile)
c.2954A>T (p.Lys985Ile)
c.2705A>T (p.Lys902Ile)
c.2936A>T (p.Lys979Ile)
c.1862A>T (p.Lys621Ile)
n.2917A>T
1g.151405973T>CCA29569083POGZc.3110A>G (p.Lys1037Arg)
c.2903A>G (p.Lys968Arg)
c.3062A>G (p.Lys1021Arg)
c.3083A>G (p.Lys1028Arg)
n.3210A>G
c.2777A>G (p.Lys926Arg)
c.3035A>G (p.Lys1012Arg)
c.2930A>G (p.Lys977Arg)
c.2876A>G (p.Lys959Arg)
c.2954A>G (p.Lys985Arg)
c.2705A>G (p.Lys902Arg)
c.2936A>G (p.Lys979Arg)
c.1862A>G (p.Lys621Arg)
n.2917A>G
 dbSNP gnomAD v4
1g.151405973T>GCA341946097POGZc.3110A>C (p.Lys1037Thr)
c.2903A>C (p.Lys968Thr)
c.3062A>C (p.Lys1021Thr)
c.3083A>C (p.Lys1028Thr)
n.3210A>C
c.2777A>C (p.Lys926Thr)
c.3035A>C (p.Lys1012Thr)
c.2930A>C (p.Lys977Thr)
c.2876A>C (p.Lys959Thr)
c.2954A>C (p.Lys985Thr)
c.2705A>C (p.Lys902Thr)
c.2936A>C (p.Lys979Thr)
c.1862A>C (p.Lys621Thr)
n.2917A>C
1g.151405973T=CA2479570468POGZc.3110A= (p.Lys1037=)
c.2903A= (p.Lys968=)
c.3062A= (p.Lys1021=)
c.3083A= (p.Lys1028=)
n.3210A=
c.2777A= (p.Lys926=)
c.3035A= (p.Lys1012=)
c.2930A= (p.Lys977=)
c.2876A= (p.Lys959=)
c.2954A= (p.Lys985=)
c.2705A= (p.Lys902=)
c.2936A= (p.Lys979=)
c.1862A= (p.Lys621=)
n.2917A=
1g.151405974T>ACA341946105POGZc.3109A>T (p.Lys1037Ter)
c.2902A>T (p.Lys968Ter)
c.3061A>T (p.Lys1021Ter)
c.3082A>T (p.Lys1028Ter)
n.3209A>T
c.2776A>T (p.Lys926Ter)
c.3034A>T (p.Lys1012Ter)
c.2929A>T (p.Lys977Ter)
c.2875A>T (p.Lys959Ter)
c.2953A>T (p.Lys985Ter)
c.2704A>T (p.Lys902Ter)
c.2935A>T (p.Lys979Ter)
c.1861A>T (p.Lys621Ter)
n.2916A>T
1g.151405974T>CCA341946111POGZc.3109A>G (p.Lys1037Glu)
c.2902A>G (p.Lys968Glu)
c.3061A>G (p.Lys1021Glu)
c.3082A>G (p.Lys1028Glu)
n.3209A>G
c.2776A>G (p.Lys926Glu)
c.3034A>G (p.Lys1012Glu)
c.2929A>G (p.Lys977Glu)
c.2875A>G (p.Lys959Glu)
c.2953A>G (p.Lys985Glu)
c.2704A>G (p.Lys902Glu)
c.2935A>G (p.Lys979Glu)
c.1861A>G (p.Lys621Glu)
n.2916A>G
1g.151405974T>GCA341946114POGZc.3109A>C (p.Lys1037Gln)
c.2902A>C (p.Lys968Gln)
c.3061A>C (p.Lys1021Gln)
c.3082A>C (p.Lys1028Gln)
n.3209A>C
c.2776A>C (p.Lys926Gln)
c.3034A>C (p.Lys1012Gln)
c.2929A>C (p.Lys977Gln)
c.2875A>C (p.Lys959Gln)
c.2953A>C (p.Lys985Gln)
c.2704A>C (p.Lys902Gln)
c.2935A>C (p.Lys979Gln)
c.1861A>C (p.Lys621Gln)
n.2916A>C
1g.151405975G>ACA420909630POGZc.3108C>T (p.Gly1036=)
c.2901C>T (p.Gly967=)
c.3060C>T (p.Gly1020=)
c.3081C>T (p.Gly1027=)
n.3208C>T
c.2775C>T (p.Gly925=)
c.3033C>T (p.Gly1011=)
c.2928C>T (p.Gly976=)
c.2874C>T (p.Gly958=)
c.2952C>T (p.Gly984=)
c.2703C>T (p.Gly901=)
c.2934C>T (p.Gly978=)
c.1860C>T (p.Gly620=)
n.2915C>T
1g.151405975G>CCA420909631POGZc.3108C>G (p.Gly1036=)
c.2901C>G (p.Gly967=)
c.3060C>G (p.Gly1020=)
c.3081C>G (p.Gly1027=)
n.3208C>G
c.2775C>G (p.Gly925=)
c.3033C>G (p.Gly1011=)
c.2928C>G (p.Gly976=)
c.2874C>G (p.Gly958=)
c.2952C>G (p.Gly984=)
c.2703C>G (p.Gly901=)
c.2934C>G (p.Gly978=)
c.1860C>G (p.Gly620=)
n.2915C>G
1g.151405975G>TCA420909633POGZc.3108C>A (p.Gly1036=)
c.2901C>A (p.Gly967=)
c.3060C>A (p.Gly1020=)
c.3081C>A (p.Gly1027=)
n.3208C>A
c.2775C>A (p.Gly925=)
c.3033C>A (p.Gly1011=)
c.2928C>A (p.Gly976=)
c.2874C>A (p.Gly958=)
c.2952C>A (p.Gly984=)
c.2703C>A (p.Gly901=)
c.2934C>A (p.Gly978=)
c.1860C>A (p.Gly620=)
n.2915C>A
1g.151405976C>ACA341946118POGZc.3107G>T (p.Gly1036Val)
c.2900G>T (p.Gly967Val)
c.3059G>T (p.Gly1020Val)
c.3080G>T (p.Gly1027Val)
n.3207G>T
c.2774G>T (p.Gly925Val)
c.3032G>T (p.Gly1011Val)
c.2927G>T (p.Gly976Val)
c.2873G>T (p.Gly958Val)
c.2951G>T (p.Gly984Val)
c.2702G>T (p.Gly901Val)
c.2933G>T (p.Gly978Val)
c.1859G>T (p.Gly620Val)
n.2914G>T
1g.151405976C=CA2479570469POGZc.3107G= (p.Gly1036=)
c.2900G= (p.Gly967=)
c.3059G= (p.Gly1020=)
c.3080G= (p.Gly1027=)
n.3207G=
c.2774G= (p.Gly925=)
c.3032G= (p.Gly1011=)
c.2927G= (p.Gly976=)
c.2873G= (p.Gly958=)
c.2951G= (p.Gly984=)
c.2702G= (p.Gly901=)
c.2933G= (p.Gly978=)
c.1859G= (p.Gly620=)
n.2914G=
1g.151405976C>GCA341946119POGZc.3107G>C (p.Gly1036Ala)
c.2900G>C (p.Gly967Ala)
c.3059G>C (p.Gly1020Ala)
c.3080G>C (p.Gly1027Ala)
n.3207G>C
c.2774G>C (p.Gly925Ala)
c.3032G>C (p.Gly1011Ala)
c.2927G>C (p.Gly976Ala)
c.2873G>C (p.Gly958Ala)
c.2951G>C (p.Gly984Ala)
c.2702G>C (p.Gly901Ala)
c.2933G>C (p.Gly978Ala)
c.1859G>C (p.Gly620Ala)
n.2914G>C
1g.151405976C>TCA1091013POGZc.3107G>A (p.Gly1036Asp)
c.2900G>A (p.Gly967Asp)
c.3059G>A (p.Gly1020Asp)
c.3080G>A (p.Gly1027Asp)
n.3207G>A
c.2774G>A (p.Gly925Asp)
c.3032G>A (p.Gly1011Asp)
c.2927G>A (p.Gly976Asp)
c.2873G>A (p.Gly958Asp)
c.2951G>A (p.Gly984Asp)
c.2702G>A (p.Gly901Asp)
c.2933G>A (p.Gly978Asp)
c.1859G>A (p.Gly620Asp)
n.2914G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.151405977C>ACA341946120POGZc.3106G>T (p.Gly1036Cys)
c.2899G>T (p.Gly967Cys)
c.3058G>T (p.Gly1020Cys)
c.3079G>T (p.Gly1027Cys)
n.3206G>T
c.2773G>T (p.Gly925Cys)
c.3031G>T (p.Gly1011Cys)
c.2926G>T (p.Gly976Cys)
c.2872G>T (p.Gly958Cys)
c.2950G>T (p.Gly984Cys)
c.2701G>T (p.Gly901Cys)
c.2932G>T (p.Gly978Cys)
c.1858G>T (p.Gly620Cys)
n.2913G>T
1g.151405977C>GCA341946125POGZc.3106G>C (p.Gly1036Arg)
c.2899G>C (p.Gly967Arg)
c.3058G>C (p.Gly1020Arg)
c.3079G>C (p.Gly1027Arg)
n.3206G>C
c.2773G>C (p.Gly925Arg)
c.3031G>C (p.Gly1011Arg)
c.2926G>C (p.Gly976Arg)
c.2872G>C (p.Gly958Arg)
c.2950G>C (p.Gly984Arg)
c.2701G>C (p.Gly901Arg)
c.2932G>C (p.Gly978Arg)
c.1858G>C (p.Gly620Arg)
n.2913G>C
1g.151405977C>TCA341946128POGZc.3106G>A (p.Gly1036Ser)
c.2899G>A (p.Gly967Ser)
c.3058G>A (p.Gly1020Ser)
c.3079G>A (p.Gly1027Ser)
n.3206G>A
c.2773G>A (p.Gly925Ser)
c.3031G>A (p.Gly1011Ser)
c.2926G>A (p.Gly976Ser)
c.2872G>A (p.Gly958Ser)
c.2950G>A (p.Gly984Ser)
c.2701G>A (p.Gly901Ser)
c.2932G>A (p.Gly978Ser)
c.1858G>A (p.Gly620Ser)
n.2913G>A
1g.151405978C>ACA341946135POGZc.3105G>T (p.Glu1035Asp)
c.2898G>T (p.Glu966Asp)
c.3057G>T (p.Glu1019Asp)
c.3078G>T (p.Glu1026Asp)
n.3205G>T
c.2772G>T (p.Glu924Asp)
c.3030G>T (p.Glu1010Asp)
c.2925G>T (p.Glu975Asp)
c.2871G>T (p.Glu957Asp)
c.2949G>T (p.Glu983Asp)
c.2700G>T (p.Glu900Asp)
c.2931G>T (p.Glu977Asp)
c.1857G>T (p.Glu619Asp)
n.2912G>T
1g.151405978C=CA2479570470POGZc.3105G= (p.Glu1035=)
c.2898G= (p.Glu966=)
c.3057G= (p.Glu1019=)
c.3078G= (p.Glu1026=)
n.3205G=
c.2772G= (p.Glu924=)
c.3030G= (p.Glu1010=)
c.2925G= (p.Glu975=)
c.2871G= (p.Glu957=)
c.2949G= (p.Glu983=)
c.2700G= (p.Glu900=)
c.2931G= (p.Glu977=)
c.1857G= (p.Glu619=)
n.2912G=
1g.151405978C>GCA341946136POGZc.3105G>C (p.Glu1035Asp)
c.2898G>C (p.Glu966Asp)
c.3057G>C (p.Glu1019Asp)
c.3078G>C (p.Glu1026Asp)
n.3205G>C
c.2772G>C (p.Glu924Asp)
c.3030G>C (p.Glu1010Asp)
c.2925G>C (p.Glu975Asp)
c.2871G>C (p.Glu957Asp)
c.2949G>C (p.Glu983Asp)
c.2700G>C (p.Glu900Asp)
c.2931G>C (p.Glu977Asp)
c.1857G>C (p.Glu619Asp)
n.2912G>C
1g.151405978C>TCA1091014POGZc.3105G>A (p.Glu1035=)
c.2898G>A (p.Glu966=)
c.3057G>A (p.Glu1019=)
c.3078G>A (p.Glu1026=)
n.3205G>A
c.2772G>A (p.Glu924=)
c.3030G>A (p.Glu1010=)
c.2925G>A (p.Glu975=)
c.2871G>A (p.Glu957=)
c.2949G>A (p.Glu983=)
c.2700G>A (p.Glu900=)
c.2931G>A (p.Glu977=)
c.1857G>A (p.Glu619=)
n.2912G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.151405979T>ACA341946146POGZc.3104A>T (p.Glu1035Val)
c.2897A>T (p.Glu966Val)
c.3056A>T (p.Glu1019Val)
c.3077A>T (p.Glu1026Val)
n.3204A>T
c.2771A>T (p.Glu924Val)
c.3029A>T (p.Glu1010Val)
c.2924A>T (p.Glu975Val)
c.2870A>T (p.Glu957Val)
c.2948A>T (p.Glu983Val)
c.2699A>T (p.Glu900Val)
c.2930A>T (p.Glu977Val)
c.1856A>T (p.Glu619Val)
n.2911A>T
1g.151405979T>CCA341946155POGZc.3104A>G (p.Glu1035Gly)
c.2897A>G (p.Glu966Gly)
c.3056A>G (p.Glu1019Gly)
c.3077A>G (p.Glu1026Gly)
n.3204A>G
c.2771A>G (p.Glu924Gly)
c.3029A>G (p.Glu1010Gly)
c.2924A>G (p.Glu975Gly)
c.2870A>G (p.Glu957Gly)
c.2948A>G (p.Glu983Gly)
c.2699A>G (p.Glu900Gly)
c.2930A>G (p.Glu977Gly)
c.1856A>G (p.Glu619Gly)
n.2911A>G
1g.151405979T>GCA341946149POGZc.3104A>C (p.Glu1035Ala)
c.2897A>C (p.Glu966Ala)
c.3056A>C (p.Glu1019Ala)
c.3077A>C (p.Glu1026Ala)
n.3204A>C
c.2771A>C (p.Glu924Ala)
c.3029A>C (p.Glu1010Ala)
c.2924A>C (p.Glu975Ala)
c.2870A>C (p.Glu957Ala)
c.2948A>C (p.Glu983Ala)
c.2699A>C (p.Glu900Ala)
c.2930A>C (p.Glu977Ala)
c.1856A>C (p.Glu619Ala)
n.2911A>C
1g.151405980C>ACA341946159POGZc.3103G>T (p.Glu1035Ter)
c.2896G>T (p.Glu966Ter)
c.3055G>T (p.Glu1019Ter)
c.3076G>T (p.Glu1026Ter)
n.3203G>T
c.2770G>T (p.Glu924Ter)
c.3028G>T (p.Glu1010Ter)
c.2923G>T (p.Glu975Ter)
c.2869G>T (p.Glu957Ter)
c.2947G>T (p.Glu983Ter)
c.2698G>T (p.Glu900Ter)
c.2929G>T (p.Glu977Ter)
c.1855G>T (p.Glu619Ter)
n.2910G>T
1g.151405980C>GCA341946163POGZc.3103G>C (p.Glu1035Gln)
c.2896G>C (p.Glu966Gln)
c.3055G>C (p.Glu1019Gln)
c.3076G>C (p.Glu1026Gln)
n.3203G>C
c.2770G>C (p.Glu924Gln)
c.3028G>C (p.Glu1010Gln)
c.2923G>C (p.Glu975Gln)
c.2869G>C (p.Glu957Gln)
c.2947G>C (p.Glu983Gln)
c.2698G>C (p.Glu900Gln)
c.2929G>C (p.Glu977Gln)
c.1855G>C (p.Glu619Gln)
n.2910G>C
1g.151405980C>TCA341946166POGZc.3103G>A (p.Glu1035Lys)
c.2896G>A (p.Glu966Lys)
c.3055G>A (p.Glu1019Lys)
c.3076G>A (p.Glu1026Lys)
n.3203G>A
c.2770G>A (p.Glu924Lys)
c.3028G>A (p.Glu1010Lys)
c.2923G>A (p.Glu975Lys)
c.2869G>A (p.Glu957Lys)
c.2947G>A (p.Glu983Lys)
c.2698G>A (p.Glu900Lys)
c.2929G>A (p.Glu977Lys)
c.1855G>A (p.Glu619Lys)
n.2910G>A
 gnomAD v4
1g.151405981T>ACA420909643POGZc.3102A>T (p.Leu1034=)
c.2895A>T (p.Leu965=)
c.3054A>T (p.Leu1018=)
c.3075A>T (p.Leu1025=)
n.3202A>T
c.2769A>T (p.Leu923=)
c.3027A>T (p.Leu1009=)
c.2922A>T (p.Leu974=)
c.2868A>T (p.Leu956=)
c.2946A>T (p.Leu982=)
c.2697A>T (p.Leu899=)
c.2928A>T (p.Leu976=)
c.1854A>T (p.Leu618=)
n.2909A>T
1g.151405981T>CCA420909644POGZc.3102A>G (p.Leu1034=)
c.2895A>G (p.Leu965=)
c.3054A>G (p.Leu1018=)
c.3075A>G (p.Leu1025=)
n.3202A>G
c.2769A>G (p.Leu923=)
c.3027A>G (p.Leu1009=)
c.2922A>G (p.Leu974=)
c.2868A>G (p.Leu956=)
c.2946A>G (p.Leu982=)
c.2697A>G (p.Leu899=)
c.2928A>G (p.Leu976=)
c.1854A>G (p.Leu618=)
n.2909A>G
1g.151405981T>GCA420909645POGZc.3102A>C (p.Leu1034=)
c.2895A>C (p.Leu965=)
c.3054A>C (p.Leu1018=)
c.3075A>C (p.Leu1025=)
n.3202A>C
c.2769A>C (p.Leu923=)
c.3027A>C (p.Leu1009=)
c.2922A>C (p.Leu974=)
c.2868A>C (p.Leu956=)
c.2946A>C (p.Leu982=)
c.2697A>C (p.Leu899=)
c.2928A>C (p.Leu976=)
c.1854A>C (p.Leu618=)
n.2909A>C
1g.151405982A>CCA341946180POGZc.3101T>G (p.Leu1034Arg)
c.2894T>G (p.Leu965Arg)
c.3053T>G (p.Leu1018Arg)
c.3074T>G (p.Leu1025Arg)
n.3201T>G
c.2768T>G (p.Leu923Arg)
c.3026T>G (p.Leu1009Arg)
c.2921T>G (p.Leu974Arg)
c.2867T>G (p.Leu956Arg)
c.2945T>G (p.Leu982Arg)
c.2696T>G (p.Leu899Arg)
c.2927T>G (p.Leu976Arg)
c.1853T>G (p.Leu618Arg)
n.2908T>G
1g.151405982A>GCA341946183POGZc.3101T>C (p.Leu1034Pro)
c.2894T>C (p.Leu965Pro)
c.3053T>C (p.Leu1018Pro)
c.3074T>C (p.Leu1025Pro)
n.3201T>C
c.2768T>C (p.Leu923Pro)
c.3026T>C (p.Leu1009Pro)
c.2921T>C (p.Leu974Pro)
c.2867T>C (p.Leu956Pro)
c.2945T>C (p.Leu982Pro)
c.2696T>C (p.Leu899Pro)
c.2927T>C (p.Leu976Pro)
c.1853T>C (p.Leu618Pro)
n.2908T>C
 gnomAD v4
1g.151405982A>TCA341946187POGZc.3101T>A (p.Leu1034Gln)
c.2894T>A (p.Leu965Gln)
c.3053T>A (p.Leu1018Gln)
c.3074T>A (p.Leu1025Gln)
n.3201T>A
c.2768T>A (p.Leu923Gln)
c.3026T>A (p.Leu1009Gln)
c.2921T>A (p.Leu974Gln)
c.2867T>A (p.Leu956Gln)
c.2945T>A (p.Leu982Gln)
c.2696T>A (p.Leu899Gln)
c.2927T>A (p.Leu976Gln)
c.1853T>A (p.Leu618Gln)
n.2908T>A
1g.151405983G>ACA420909648POGZc.3100C>T (p.Leu1034=)
c.2893C>T (p.Leu965=)
c.3052C>T (p.Leu1018=)
c.3073C>T (p.Leu1025=)
n.3200C>T
c.2767C>T (p.Leu923=)
c.3025C>T (p.Leu1009=)
c.2920C>T (p.Leu974=)
c.2866C>T (p.Leu956=)
c.2944C>T (p.Leu982=)
c.2695C>T (p.Leu899=)
c.2926C>T (p.Leu976=)
c.1852C>T (p.Leu618=)
n.2907C>T
1g.151405983G>CCA341946198POGZc.3100C>G (p.Leu1034Val)
c.2893C>G (p.Leu965Val)
c.3052C>G (p.Leu1018Val)
c.3073C>G (p.Leu1025Val)
n.3200C>G
c.2767C>G (p.Leu923Val)
c.3025C>G (p.Leu1009Val)
c.2920C>G (p.Leu974Val)
c.2866C>G (p.Leu956Val)
c.2944C>G (p.Leu982Val)
c.2695C>G (p.Leu899Val)
c.2926C>G (p.Leu976Val)
c.1852C>G (p.Leu618Val)
n.2907C>G
1g.151405983G>TCA341946202POGZc.3100C>A (p.Leu1034Ile)
c.2893C>A (p.Leu965Ile)
c.3052C>A (p.Leu1018Ile)
c.3073C>A (p.Leu1025Ile)
n.3200C>A
c.2767C>A (p.Leu923Ile)
c.3025C>A (p.Leu1009Ile)
c.2920C>A (p.Leu974Ile)
c.2866C>A (p.Leu956Ile)
c.2944C>A (p.Leu982Ile)
c.2695C>A (p.Leu899Ile)
c.2926C>A (p.Leu976Ile)
c.1852C>A (p.Leu618Ile)
n.2907C>A
1g.151405984A>CCA341946217POGZc.3099T>G (p.Asn1033Lys)
c.2892T>G (p.Asn964Lys)
c.3051T>G (p.Asn1017Lys)
c.3072T>G (p.Asn1024Lys)
n.3199T>G
c.2766T>G (p.Asn922Lys)
c.3024T>G (p.Asn1008Lys)
c.2919T>G (p.Asn973Lys)
c.2865T>G (p.Asn955Lys)
c.2943T>G (p.Asn981Lys)
c.2694T>G (p.Asn898Lys)
c.2925T>G (p.Asn975Lys)
c.1851T>G (p.Asn617Lys)
n.2906T>G
1g.151405984A>GCA420909650POGZc.3099T>C (p.Asn1033=)
c.2892T>C (p.Asn964=)
c.3051T>C (p.Asn1017=)
c.3072T>C (p.Asn1024=)
n.3199T>C
c.2766T>C (p.Asn922=)
c.3024T>C (p.Asn1008=)
c.2919T>C (p.Asn973=)
c.2865T>C (p.Asn955=)
c.2943T>C (p.Asn981=)
c.2694T>C (p.Asn898=)
c.2925T>C (p.Asn975=)
c.1851T>C (p.Asn617=)
n.2906T>C
1g.151405984A>TCA341946223POGZc.3099T>A (p.Asn1033Lys)
c.2892T>A (p.Asn964Lys)
c.3051T>A (p.Asn1017Lys)
c.3072T>A (p.Asn1024Lys)
n.3199T>A
c.2766T>A (p.Asn922Lys)
c.3024T>A (p.Asn1008Lys)
c.2919T>A (p.Asn973Lys)
c.2865T>A (p.Asn955Lys)
c.2943T>A (p.Asn981Lys)
c.2694T>A (p.Asn898Lys)
c.2925T>A (p.Asn975Lys)
c.1851T>A (p.Asn617Lys)
n.2906T>A
1g.151405985T>ACA341946232POGZc.3098A>T (p.Asn1033Ile)
c.2891A>T (p.Asn964Ile)
c.3050A>T (p.Asn1017Ile)
c.3071A>T (p.Asn1024Ile)
n.3198A>T
c.2765A>T (p.Asn922Ile)
c.3023A>T (p.Asn1008Ile)
c.2918A>T (p.Asn973Ile)
c.2864A>T (p.Asn955Ile)
c.2942A>T (p.Asn981Ile)
c.2693A>T (p.Asn898Ile)
c.2924A>T (p.Asn975Ile)
c.1850A>T (p.Asn617Ile)
n.2905A>T
1g.151405985T>CCA341946238POGZc.3098A>G (p.Asn1033Ser)
c.2891A>G (p.Asn964Ser)
c.3050A>G (p.Asn1017Ser)
c.3071A>G (p.Asn1024Ser)
n.3198A>G
c.2765A>G (p.Asn922Ser)
c.3023A>G (p.Asn1008Ser)
c.2918A>G (p.Asn973Ser)
c.2864A>G (p.Asn955Ser)
c.2942A>G (p.Asn981Ser)
c.2693A>G (p.Asn898Ser)
c.2924A>G (p.Asn975Ser)
c.1850A>G (p.Asn617Ser)
n.2905A>G
1g.151405985T>GCA341946241POGZc.3098A>C (p.Asn1033Thr)
c.2891A>C (p.Asn964Thr)
c.3050A>C (p.Asn1017Thr)
c.3071A>C (p.Asn1024Thr)
n.3198A>C
c.2765A>C (p.Asn922Thr)
c.3023A>C (p.Asn1008Thr)
c.2918A>C (p.Asn973Thr)
c.2864A>C (p.Asn955Thr)
c.2942A>C (p.Asn981Thr)
c.2693A>C (p.Asn898Thr)
c.2924A>C (p.Asn975Thr)
c.1850A>C (p.Asn617Thr)
n.2905A>C
1g.151405986T>ACA341946255POGZc.3097A>T (p.Asn1033Tyr)
c.2890A>T (p.Asn964Tyr)
c.3049A>T (p.Asn1017Tyr)
c.3070A>T (p.Asn1024Tyr)
n.3197A>T
c.2764A>T (p.Asn922Tyr)
c.3022A>T (p.Asn1008Tyr)
c.2917A>T (p.Asn973Tyr)
c.2863A>T (p.Asn955Tyr)
c.2941A>T (p.Asn981Tyr)
c.2692A>T (p.Asn898Tyr)
c.2923A>T (p.Asn975Tyr)
c.1849A>T (p.Asn617Tyr)
n.2904A>T
1g.151405986T>CCA341946246POGZc.3097A>G (p.Asn1033Asp)
c.2890A>G (p.Asn964Asp)
c.3049A>G (p.Asn1017Asp)
c.3070A>G (p.Asn1024Asp)
n.3197A>G
c.2764A>G (p.Asn922Asp)
c.3022A>G (p.Asn1008Asp)
c.2917A>G (p.Asn973Asp)
c.2863A>G (p.Asn955Asp)
c.2941A>G (p.Asn981Asp)
c.2692A>G (p.Asn898Asp)
c.2923A>G (p.Asn975Asp)
c.1849A>G (p.Asn617Asp)
n.2904A>G
1g.151405986T>GCA341946250POGZc.3097A>C (p.Asn1033His)
c.2890A>C (p.Asn964His)
c.3049A>C (p.Asn1017His)
c.3070A>C (p.Asn1024His)
n.3197A>C
c.2764A>C (p.Asn922His)
c.3022A>C (p.Asn1008His)
c.2917A>C (p.Asn973His)
c.2863A>C (p.Asn955His)
c.2941A>C (p.Asn981His)
c.2692A>C (p.Asn898His)
c.2923A>C (p.Asn975His)
c.1849A>C (p.Asn617His)
n.2904A>C
1g.151405987C>ACA341946267POGZc.3096G>T (p.Glu1032Asp)
c.2889G>T (p.Glu963Asp)
c.3048G>T (p.Glu1016Asp)
c.3069G>T (p.Glu1023Asp)
n.3196G>T
c.2763G>T (p.Glu921Asp)
c.3021G>T (p.Glu1007Asp)
c.2916G>T (p.Glu972Asp)
c.2862G>T (p.Glu954Asp)
c.2940G>T (p.Glu980Asp)
c.2691G>T (p.Glu897Asp)
c.2922G>T (p.Glu974Asp)
c.1848G>T (p.Glu616Asp)
n.2903G>T
 ClinVar dbSNP
1g.151405987C=CA2479570471POGZc.3096G= (p.Glu1032=)
c.2889G= (p.Glu963=)
c.3048G= (p.Glu1016=)
c.3069G= (p.Glu1023=)
n.3196G=
c.2763G= (p.Glu921=)
c.3021G= (p.Glu1007=)
c.2916G= (p.Glu972=)
c.2862G= (p.Glu954=)
c.2940G= (p.Glu980=)
c.2691G= (p.Glu897=)
c.2922G= (p.Glu974=)
c.1848G= (p.Glu616=)
n.2903G=
1g.151405987C>GCA341946270POGZc.3096G>C (p.Glu1032Asp)
c.2889G>C (p.Glu963Asp)
c.3048G>C (p.Glu1016Asp)
c.3069G>C (p.Glu1023Asp)
n.3196G>C
c.2763G>C (p.Glu921Asp)
c.3021G>C (p.Glu1007Asp)
c.2916G>C (p.Glu972Asp)
c.2862G>C (p.Glu954Asp)
c.2940G>C (p.Glu980Asp)
c.2691G>C (p.Glu897Asp)
c.2922G>C (p.Glu974Asp)
c.1848G>C (p.Glu616Asp)
n.2903G>C
1g.151405987C>TCA420909656POGZc.3096G>A (p.Glu1032=)
c.2889G>A (p.Glu963=)
c.3048G>A (p.Glu1016=)
c.3069G>A (p.Glu1023=)
n.3196G>A
c.2763G>A (p.Glu921=)
c.3021G>A (p.Glu1007=)
c.2916G>A (p.Glu972=)
c.2862G>A (p.Glu954=)
c.2940G>A (p.Glu980=)
c.2691G>A (p.Glu897=)
c.2922G>A (p.Glu974=)
c.1848G>A (p.Glu616=)
n.2903G>A
 dbSNP
1g.151405988T>ACA341946287POGZc.3095A>T (p.Glu1032Val)
c.2888A>T (p.Glu963Val)
c.3047A>T (p.Glu1016Val)
c.3068A>T (p.Glu1023Val)
n.3195A>T
c.2762A>T (p.Glu921Val)
c.3020A>T (p.Glu1007Val)
c.2915A>T (p.Glu972Val)
c.2861A>T (p.Glu954Val)
c.2939A>T (p.Glu980Val)
c.2690A>T (p.Glu897Val)
c.2921A>T (p.Glu974Val)
c.1847A>T (p.Glu616Val)
n.2902A>T
1g.151405988T>CCA341946292POGZc.3095A>G (p.Glu1032Gly)
c.2888A>G (p.Glu963Gly)
c.3047A>G (p.Glu1016Gly)
c.3068A>G (p.Glu1023Gly)
n.3195A>G
c.2762A>G (p.Glu921Gly)
c.3020A>G (p.Glu1007Gly)
c.2915A>G (p.Glu972Gly)
c.2861A>G (p.Glu954Gly)
c.2939A>G (p.Glu980Gly)
c.2690A>G (p.Glu897Gly)
c.2921A>G (p.Glu974Gly)
c.1847A>G (p.Glu616Gly)
n.2902A>G
1g.151405988T>GCA341946296POGZc.3095A>C (p.Glu1032Ala)
c.2888A>C (p.Glu963Ala)
c.3047A>C (p.Glu1016Ala)
c.3068A>C (p.Glu1023Ala)
n.3195A>C
c.2762A>C (p.Glu921Ala)
c.3020A>C (p.Glu1007Ala)
c.2915A>C (p.Glu972Ala)
c.2861A>C (p.Glu954Ala)
c.2939A>C (p.Glu980Ala)
c.2690A>C (p.Glu897Ala)
c.2921A>C (p.Glu974Ala)
c.1847A>C (p.Glu616Ala)
n.2902A>C
1g.151405989C>ACA341946302POGZc.3094G>T (p.Glu1032Ter)
c.2887G>T (p.Glu963Ter)
c.3046G>T (p.Glu1016Ter)
c.3067G>T (p.Glu1023Ter)
n.3194G>T
c.2761G>T (p.Glu921Ter)
c.3019G>T (p.Glu1007Ter)
c.2914G>T (p.Glu972Ter)
c.2860G>T (p.Glu954Ter)
c.2938G>T (p.Glu980Ter)
c.2689G>T (p.Glu897Ter)
c.2920G>T (p.Glu974Ter)
c.1846G>T (p.Glu616Ter)
n.2901G>T
1g.151405989C>GCA341946303POGZc.3094G>C (p.Glu1032Gln)
c.2887G>C (p.Glu963Gln)
c.3046G>C (p.Glu1016Gln)
c.3067G>C (p.Glu1023Gln)
n.3194G>C
c.2761G>C (p.Glu921Gln)
c.3019G>C (p.Glu1007Gln)
c.2914G>C (p.Glu972Gln)
c.2860G>C (p.Glu954Gln)
c.2938G>C (p.Glu980Gln)
c.2689G>C (p.Glu897Gln)
c.2920G>C (p.Glu974Gln)
c.1846G>C (p.Glu616Gln)
n.2901G>C
1g.151405989C>TCA341946304POGZc.3094G>A (p.Glu1032Lys)
c.2887G>A (p.Glu963Lys)
c.3046G>A (p.Glu1016Lys)
c.3067G>A (p.Glu1023Lys)
n.3194G>A
c.2761G>A (p.Glu921Lys)
c.3019G>A (p.Glu1007Lys)
c.2914G>A (p.Glu972Lys)
c.2860G>A (p.Glu954Lys)
c.2938G>A (p.Glu980Lys)
c.2689G>A (p.Glu897Lys)
c.2920G>A (p.Glu974Lys)
c.1846G>A (p.Glu616Lys)
n.2901G>A
1g.151405993dupCA2580612559POGZc.3094dup (p.Glu1032GlyfsTer11)
c.2887dup (p.Glu963GlyfsTer11)
c.3046dup (p.Glu1016GlyfsTer11)
c.3067dup (p.Glu1023GlyfsTer11)
n.3194dup
c.2761dup (p.Glu921GlyfsTer11)
c.3019dup (p.Glu1007GlyfsTer11)
c.2914dup (p.Glu972GlyfsTer11)
c.2860dup (p.Glu954GlyfsTer11)
c.2938dup (p.Glu980GlyfsTer11)
c.2689dup (p.Glu897GlyfsTer11)
c.2920dup (p.Glu974GlyfsTer11)
c.1846dup (p.Glu616GlyfsTer11)
n.2901dup
 ClinVar
1g.151405993delCA420909662POGZc.3094del (p.Glu1032ArgfsTer3)
c.2887del (p.Glu963ArgfsTer3)
c.3046del (p.Glu1016ArgfsTer3)
c.3067del (p.Glu1023ArgfsTer3)
n.3194del
c.2761del (p.Glu921ArgfsTer3)
c.3019del (p.Glu1007ArgfsTer3)
c.2914del (p.Glu972ArgfsTer3)
c.2860del (p.Glu954ArgfsTer3)
c.2938del (p.Glu980ArgfsTer3)
c.2689del (p.Glu897ArgfsTer3)
c.2920del (p.Glu974ArgfsTer3)
c.1846del (p.Glu616ArgfsTer3)
n.2901del
 ClinVar COSMIC COSMIC
1g.151405990C>ACA420909664POGZc.3093G>T (p.Gly1031=)
c.2886G>T (p.Gly962=)
c.3045G>T (p.Gly1015=)
c.3066G>T (p.Gly1022=)
n.3193G>T
c.2760G>T (p.Gly920=)
c.3018G>T (p.Gly1006=)
c.2913G>T (p.Gly971=)
c.2859G>T (p.Gly953=)
c.2937G>T (p.Gly979=)
c.2688G>T (p.Gly896=)
c.2919G>T (p.Gly973=)
c.1845G>T (p.Gly615=)
n.2900G>T
 gnomAD v4
1g.151405990C=CA2479570472POGZc.3093G= (p.Gly1031=)
c.2886G= (p.Gly962=)
c.3045G= (p.Gly1015=)
c.3066G= (p.Gly1022=)
n.3193G=
c.2760G= (p.Gly920=)
c.3018G= (p.Gly1006=)
c.2913G= (p.Gly971=)
c.2859G= (p.Gly953=)
c.2937G= (p.Gly979=)
c.2688G= (p.Gly896=)
c.2919G= (p.Gly973=)
c.1845G= (p.Gly615=)
n.2900G=
1g.151405990C>GCA420909666POGZc.3093G>C (p.Gly1031=)
c.2886G>C (p.Gly962=)
c.3045G>C (p.Gly1015=)
c.3066G>C (p.Gly1022=)
n.3193G>C
c.2760G>C (p.Gly920=)
c.3018G>C (p.Gly1006=)
c.2913G>C (p.Gly971=)
c.2859G>C (p.Gly953=)
c.2937G>C (p.Gly979=)
c.2688G>C (p.Gly896=)
c.2919G>C (p.Gly973=)
c.1845G>C (p.Gly615=)
n.2900G>C
1g.151405990C>TCA420909668POGZc.3093G>A (p.Gly1031=)
c.2886G>A (p.Gly962=)
c.3045G>A (p.Gly1015=)
c.3066G>A (p.Gly1022=)
n.3193G>A
c.2760G>A (p.Gly920=)
c.3018G>A (p.Gly1006=)
c.2913G>A (p.Gly971=)
c.2859G>A (p.Gly953=)
c.2937G>A (p.Gly979=)
c.2688G>A (p.Gly896=)
c.2919G>A (p.Gly973=)
c.1845G>A (p.Gly615=)
n.2900G>A
 dbSNP
1g.151405991C>ACA341946305POGZc.3092G>T (p.Gly1031Val)
c.2885G>T (p.Gly962Val)
c.3044G>T (p.Gly1015Val)
c.3065G>T (p.Gly1022Val)
n.3192G>T
c.2759G>T (p.Gly920Val)
c.3017G>T (p.Gly1006Val)
c.2912G>T (p.Gly971Val)
c.2858G>T (p.Gly953Val)
c.2936G>T (p.Gly979Val)
c.2687G>T (p.Gly896Val)
c.2918G>T (p.Gly973Val)
c.1844G>T (p.Gly615Val)
n.2899G>T
1g.151405991C>GCA341946310POGZc.3092G>C (p.Gly1031Ala)
c.2885G>C (p.Gly962Ala)
c.3044G>C (p.Gly1015Ala)
c.3065G>C (p.Gly1022Ala)
n.3192G>C
c.2759G>C (p.Gly920Ala)
c.3017G>C (p.Gly1006Ala)
c.2912G>C (p.Gly971Ala)
c.2858G>C (p.Gly953Ala)
c.2936G>C (p.Gly979Ala)
c.2687G>C (p.Gly896Ala)
c.2918G>C (p.Gly973Ala)
c.1844G>C (p.Gly615Ala)
n.2899G>C
1g.151405991C>TCA341946322POGZc.3092G>A (p.Gly1031Glu)
c.2885G>A (p.Gly962Glu)
c.3044G>A (p.Gly1015Glu)
c.3065G>A (p.Gly1022Glu)
n.3192G>A
c.2759G>A (p.Gly920Glu)
c.3017G>A (p.Gly1006Glu)
c.2912G>A (p.Gly971Glu)
c.2858G>A (p.Gly953Glu)
c.2936G>A (p.Gly979Glu)
c.2687G>A (p.Gly896Glu)
c.2918G>A (p.Gly973Glu)
c.1844G>A (p.Gly615Glu)
n.2899G>A
1g.151405992C>ACA341946328POGZc.3091G>T (p.Gly1031Trp)
c.2884G>T (p.Gly962Trp)
c.3043G>T (p.Gly1015Trp)
c.3064G>T (p.Gly1022Trp)
n.3191G>T
c.2758G>T (p.Gly920Trp)
c.3016G>T (p.Gly1006Trp)
c.2911G>T (p.Gly971Trp)
c.2857G>T (p.Gly953Trp)
c.2935G>T (p.Gly979Trp)
c.2686G>T (p.Gly896Trp)
c.2917G>T (p.Gly973Trp)
c.1843G>T (p.Gly615Trp)
n.2898G>T
 gnomAD v4
1g.151405992C=CA2479570473POGZc.3091G= (p.Gly1031=)
c.2884G= (p.Gly962=)
c.3043G= (p.Gly1015=)
c.3064G= (p.Gly1022=)
n.3191G=
c.2758G= (p.Gly920=)
c.3016G= (p.Gly1006=)
c.2911G= (p.Gly971=)
c.2857G= (p.Gly953=)
c.2935G= (p.Gly979=)
c.2686G= (p.Gly896=)
c.2917G= (p.Gly973=)
c.1843G= (p.Gly615=)
n.2898G=
1g.151405992C>GCA341946340POGZc.3091G>C (p.Gly1031Arg)
c.2884G>C (p.Gly962Arg)
c.3043G>C (p.Gly1015Arg)
c.3064G>C (p.Gly1022Arg)
n.3191G>C
c.2758G>C (p.Gly920Arg)
c.3016G>C (p.Gly1006Arg)
c.2911G>C (p.Gly971Arg)
c.2857G>C (p.Gly953Arg)
c.2935G>C (p.Gly979Arg)
c.2686G>C (p.Gly896Arg)
c.2917G>C (p.Gly973Arg)
c.1843G>C (p.Gly615Arg)
n.2898G>C
1g.151405992C>TCA341946337POGZc.3091G>A (p.Gly1031Arg)
c.2884G>A (p.Gly962Arg)
c.3043G>A (p.Gly1015Arg)
c.3064G>A (p.Gly1022Arg)
n.3191G>A
c.2758G>A (p.Gly920Arg)
c.3016G>A (p.Gly1006Arg)
c.2911G>A (p.Gly971Arg)
c.2857G>A (p.Gly953Arg)
c.2935G>A (p.Gly979Arg)
c.2686G>A (p.Gly896Arg)
c.2917G>A (p.Gly973Arg)
c.1843G>A (p.Gly615Arg)
n.2898G>A
 dbSNP gnomAD v4
1g.151405993C>ACA341946341POGZc.3090G>T (p.Gln1030His)
c.2883G>T (p.Gln961His)
c.3042G>T (p.Gln1014His)
c.3063G>T (p.Gln1021His)
n.3190G>T
c.2757G>T (p.Gln919His)
c.3015G>T (p.Gln1005His)
c.2910G>T (p.Gln970His)
c.2856G>T (p.Gln952His)
c.2934G>T (p.Gln978His)
c.2685G>T (p.Gln895His)
c.2916G>T (p.Gln972His)
c.1842G>T (p.Gln614His)
n.2897G>T
 COSMIC COSMIC
1g.151405993C>GCA341946342POGZc.3090G>C (p.Gln1030His)
c.2883G>C (p.Gln961His)
c.3042G>C (p.Gln1014His)
c.3063G>C (p.Gln1021His)
n.3190G>C
c.2757G>C (p.Gln919His)
c.3015G>C (p.Gln1005His)
c.2910G>C (p.Gln970His)
c.2856G>C (p.Gln952His)
c.2934G>C (p.Gln978His)
c.2685G>C (p.Gln895His)
c.2916G>C (p.Gln972His)
c.1842G>C (p.Gln614His)
n.2897G>C
1g.151405993C>TCA420909672POGZc.3090G>A (p.Gln1030=)
c.2883G>A (p.Gln961=)
c.3042G>A (p.Gln1014=)
c.3063G>A (p.Gln1021=)
n.3190G>A
c.2757G>A (p.Gln919=)
c.3015G>A (p.Gln1005=)
c.2910G>A (p.Gln970=)
c.2856G>A (p.Gln952=)
c.2934G>A (p.Gln978=)
c.2685G>A (p.Gln895=)
c.2916G>A (p.Gln972=)
c.1842G>A (p.Gln614=)
n.2897G>A
 gnomAD v4
1g.151405993_151405994delinsCTCA2479570474POGZc.3089_3090delinsAG (p.Gln1030=)
c.2882_2883delinsAG (p.Gln961=)
c.3041_3042delinsAG (p.Gln1014=)
c.3062_3063delinsAG (p.Gln1021=)
n.3189_3190delinsAG
c.2756_2757delinsAG (p.Gln919=)
c.3014_3015delinsAG (p.Gln1005=)
c.2909_2910delinsAG (p.Gln970=)
c.2855_2856delinsAG (p.Gln952=)
c.2933_2934delinsAG (p.Gln978=)
c.2684_2685delinsAG (p.Gln895=)
c.2915_2916delinsAG (p.Gln972=)
c.1841_1842delinsAG (p.Gln614=)
n.2896_2897delinsAG
1g.151405994delCA319617POGZc.3089del (p.Gln1030ArgfsTer5)
c.2882del (p.Gln961ArgfsTer5)
c.3041del (p.Gln1014ArgfsTer5)
c.3062del (p.Gln1021ArgfsTer5)
n.3189del
c.2756del (p.Gln919ArgfsTer5)
c.3014del (p.Gln1005ArgfsTer5)
c.2909del (p.Gln970ArgfsTer5)
c.2855del (p.Gln952ArgfsTer5)
c.2933del (p.Gln978ArgfsTer5)
c.2684del (p.Gln895ArgfsTer5)
c.2915del (p.Gln972ArgfsTer5)
c.1841del (p.Gln614ArgfsTer5)
n.2896del
 ClinVar dbSNP
1g.151405994T>ACA341946345POGZc.3089A>T (p.Gln1030Leu)
c.2882A>T (p.Gln961Leu)
c.3041A>T (p.Gln1014Leu)
c.3062A>T (p.Gln1021Leu)
n.3189A>T
c.2756A>T (p.Gln919Leu)
c.3014A>T (p.Gln1005Leu)
c.2909A>T (p.Gln970Leu)
c.2855A>T (p.Gln952Leu)
c.2933A>T (p.Gln978Leu)
c.2684A>T (p.Gln895Leu)
c.2915A>T (p.Gln972Leu)
c.1841A>T (p.Gln614Leu)
n.2896A>T
1g.151405994T>CCA341946355POGZc.3089A>G (p.Gln1030Arg)
c.2882A>G (p.Gln961Arg)
c.3041A>G (p.Gln1014Arg)
c.3062A>G (p.Gln1021Arg)
n.3189A>G
c.2756A>G (p.Gln919Arg)
c.3014A>G (p.Gln1005Arg)
c.2909A>G (p.Gln970Arg)
c.2855A>G (p.Gln952Arg)
c.2933A>G (p.Gln978Arg)
c.2684A>G (p.Gln895Arg)
c.2915A>G (p.Gln972Arg)
c.1841A>G (p.Gln614Arg)
n.2896A>G
 dbSNP
1g.151405994T>GCA341946360POGZc.3089A>C (p.Gln1030Pro)
c.2882A>C (p.Gln961Pro)
c.3041A>C (p.Gln1014Pro)
c.3062A>C (p.Gln1021Pro)
n.3189A>C
c.2756A>C (p.Gln919Pro)
c.3014A>C (p.Gln1005Pro)
c.2909A>C (p.Gln970Pro)
c.2855A>C (p.Gln952Pro)
c.2933A>C (p.Gln978Pro)
c.2684A>C (p.Gln895Pro)
c.2915A>C (p.Gln972Pro)
c.1841A>C (p.Gln614Pro)
n.2896A>C
1g.151405994T=CA2479570475POGZc.3089A= (p.Gln1030=)
c.2882A= (p.Gln961=)
c.3041A= (p.Gln1014=)
c.3062A= (p.Gln1021=)
n.3189A=
c.2756A= (p.Gln919=)
c.3014A= (p.Gln1005=)
c.2909A= (p.Gln970=)
c.2855A= (p.Gln952=)
c.2933A= (p.Gln978=)
c.2684A= (p.Gln895=)
c.2915A= (p.Gln972=)
c.1841A= (p.Gln614=)
n.2896A=
1g.151405995G>ACA341946393POGZc.3088C>T (p.Gln1030Ter)
c.2881C>T (p.Gln961Ter)
c.3040C>T (p.Gln1014Ter)
c.3061C>T (p.Gln1021Ter)
n.3188C>T
c.2755C>T (p.Gln919Ter)
c.3013C>T (p.Gln1005Ter)
c.2908C>T (p.Gln970Ter)
c.2854C>T (p.Gln952Ter)
c.2932C>T (p.Gln978Ter)
c.2683C>T (p.Gln895Ter)
c.2914C>T (p.Gln972Ter)
c.1840C>T (p.Gln614Ter)
n.2895C>T
 ClinVar dbSNP
1g.151405995G>CCA341946366POGZc.3088C>G (p.Gln1030Glu)
c.2881C>G (p.Gln961Glu)
c.3040C>G (p.Gln1014Glu)
c.3061C>G (p.Gln1021Glu)
n.3188C>G
c.2755C>G (p.Gln919Glu)
c.3013C>G (p.Gln1005Glu)
c.2908C>G (p.Gln970Glu)
c.2854C>G (p.Gln952Glu)
c.2932C>G (p.Gln978Glu)
c.2683C>G (p.Gln895Glu)
c.2914C>G (p.Gln972Glu)
c.1840C>G (p.Gln614Glu)
n.2895C>G
1g.151405995G>TCA341946404POGZc.3088C>A (p.Gln1030Lys)
c.2881C>A (p.Gln961Lys)
c.3040C>A (p.Gln1014Lys)
c.3061C>A (p.Gln1021Lys)
n.3188C>A
c.2755C>A (p.Gln919Lys)
c.3013C>A (p.Gln1005Lys)
c.2908C>A (p.Gln970Lys)
c.2854C>A (p.Gln952Lys)
c.2932C>A (p.Gln978Lys)
c.2683C>A (p.Gln895Lys)
c.2914C>A (p.Gln972Lys)
c.1840C>A (p.Gln614Lys)
n.2895C>A
1g.151405996G>ACA420909688POGZc.3087C>T (p.Ser1029=)
c.2880C>T (p.Ser960=)
c.3039C>T (p.Ser1013=)
c.3060C>T (p.Ser1020=)
n.3187C>T
c.2754C>T (p.Ser918=)
c.3012C>T (p.Ser1004=)
c.2907C>T (p.Ser969=)
c.2853C>T (p.Ser951=)
c.2931C>T (p.Ser977=)
c.2682C>T (p.Ser894=)
c.2913C>T (p.Ser971=)
c.1839C>T (p.Ser613=)
n.2894C>T
1g.151405996G>CCA420909686POGZc.3087C>G (p.Ser1029=)
c.2880C>G (p.Ser960=)
c.3039C>G (p.Ser1013=)
c.3060C>G (p.Ser1020=)
n.3187C>G
c.2754C>G (p.Ser918=)
c.3012C>G (p.Ser1004=)
c.2907C>G (p.Ser969=)
c.2853C>G (p.Ser951=)
c.2931C>G (p.Ser977=)
c.2682C>G (p.Ser894=)
c.2913C>G (p.Ser971=)
c.1839C>G (p.Ser613=)
n.2894C>G
1g.151405996G>TCA420909685POGZc.3087C>A (p.Ser1029=)
c.2880C>A (p.Ser960=)
c.3039C>A (p.Ser1013=)
c.3060C>A (p.Ser1020=)
n.3187C>A
c.2754C>A (p.Ser918=)
c.3012C>A (p.Ser1004=)
c.2907C>A (p.Ser969=)
c.2853C>A (p.Ser951=)
c.2931C>A (p.Ser977=)
c.2682C>A (p.Ser894=)
c.2913C>A (p.Ser971=)
c.1839C>A (p.Ser613=)
n.2894C>A
1g.151405997G>ACA341946424POGZc.3086C>T (p.Ser1029Phe)
c.2879C>T (p.Ser960Phe)
c.3038C>T (p.Ser1013Phe)
c.3059C>T (p.Ser1020Phe)
n.3186C>T
c.2753C>T (p.Ser918Phe)
c.3011C>T (p.Ser1004Phe)
c.2906C>T (p.Ser969Phe)
c.2852C>T (p.Ser951Phe)
c.2930C>T (p.Ser977Phe)
c.2681C>T (p.Ser894Phe)
c.2912C>T (p.Ser971Phe)
c.1838C>T (p.Ser613Phe)
n.2893C>T
1g.151405997G>CCA341946428POGZc.3086C>G (p.Ser1029Cys)
c.2879C>G (p.Ser960Cys)
c.3038C>G (p.Ser1013Cys)
c.3059C>G (p.Ser1020Cys)
n.3186C>G
c.2753C>G (p.Ser918Cys)
c.3011C>G (p.Ser1004Cys)
c.2906C>G (p.Ser969Cys)
c.2852C>G (p.Ser951Cys)
c.2930C>G (p.Ser977Cys)
c.2681C>G (p.Ser894Cys)
c.2912C>G (p.Ser971Cys)
c.1838C>G (p.Ser613Cys)
n.2893C>G
 dbSNP gnomAD v2 gnomAD v4
1g.151405997G=CA2479570476POGZc.3086C= (p.Ser1029=)
c.2879C= (p.Ser960=)
c.3038C= (p.Ser1013=)
c.3059C= (p.Ser1020=)
n.3186C=
c.2753C= (p.Ser918=)
c.3011C= (p.Ser1004=)
c.2906C= (p.Ser969=)
c.2852C= (p.Ser951=)
c.2930C= (p.Ser977=)
c.2681C= (p.Ser894=)
c.2912C= (p.Ser971=)
c.1838C= (p.Ser613=)
n.2893C=
1g.151405997G>TCA341946427POGZc.3086C>A (p.Ser1029Tyr)
c.2879C>A (p.Ser960Tyr)
c.3038C>A (p.Ser1013Tyr)
c.3059C>A (p.Ser1020Tyr)
n.3186C>A
c.2753C>A (p.Ser918Tyr)
c.3011C>A (p.Ser1004Tyr)
c.2906C>A (p.Ser969Tyr)
c.2852C>A (p.Ser951Tyr)
c.2930C>A (p.Ser977Tyr)
c.2681C>A (p.Ser894Tyr)
c.2912C>A (p.Ser971Tyr)
c.1838C>A (p.Ser613Tyr)
n.2893C>A
1g.151405998A>CCA341946429POGZc.3085T>G (p.Ser1029Ala)
c.2878T>G (p.Ser960Ala)
c.3037T>G (p.Ser1013Ala)
c.3058T>G (p.Ser1020Ala)
n.3185T>G
c.2752T>G (p.Ser918Ala)
c.3010T>G (p.Ser1004Ala)
c.2905T>G (p.Ser969Ala)
c.2851T>G (p.Ser951Ala)
c.2929T>G (p.Ser977Ala)
c.2680T>G (p.Ser894Ala)
c.2911T>G (p.Ser971Ala)
c.1837T>G (p.Ser613Ala)
n.2892T>G
1g.151405998A>GCA341946430POGZc.3085T>C (p.Ser1029Pro)
c.2878T>C (p.Ser960Pro)
c.3037T>C (p.Ser1013Pro)
c.3058T>C (p.Ser1020Pro)
n.3185T>C
c.2752T>C (p.Ser918Pro)
c.3010T>C (p.Ser1004Pro)
c.2905T>C (p.Ser969Pro)
c.2851T>C (p.Ser951Pro)
c.2929T>C (p.Ser977Pro)
c.2680T>C (p.Ser894Pro)
c.2911T>C (p.Ser971Pro)
c.1837T>C (p.Ser613Pro)
n.2892T>C
1g.151405998A>TCA341946434POGZc.3085T>A (p.Ser1029Thr)
c.2878T>A (p.Ser960Thr)
c.3037T>A (p.Ser1013Thr)
c.3058T>A (p.Ser1020Thr)
n.3185T>A
c.2752T>A (p.Ser918Thr)
c.3010T>A (p.Ser1004Thr)
c.2905T>A (p.Ser969Thr)
c.2851T>A (p.Ser951Thr)
c.2929T>A (p.Ser977Thr)
c.2680T>A (p.Ser894Thr)
c.2911T>A (p.Ser971Thr)
c.1837T>A (p.Ser613Thr)
n.2892T>A
1g.151405999G>ACA1091015POGZc.3084C>T (p.Ala1028=)
c.2877C>T (p.Ala959=)
c.3036C>T (p.Ala1012=)
c.3057C>T (p.Ala1019=)
n.3184C>T
c.2751C>T (p.Ala917=)
c.3009C>T (p.Ala1003=)
c.2904C>T (p.Ala968=)
c.2850C>T (p.Ala950=)
c.2928C>T (p.Ala976=)
c.2679C>T (p.Ala893=)
c.2910C>T (p.Ala970=)
c.1836C>T (p.Ala612=)
n.2891C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.151405999G>CCA420909692POGZc.3084C>G (p.Ala1028=)
c.2877C>G (p.Ala959=)
c.3036C>G (p.Ala1012=)
c.3057C>G (p.Ala1019=)
n.3184C>G
c.2751C>G (p.Ala917=)
c.3009C>G (p.Ala1003=)
c.2904C>G (p.Ala968=)
c.2850C>G (p.Ala950=)
c.2928C>G (p.Ala976=)
c.2679C>G (p.Ala893=)
c.2910C>G (p.Ala970=)
c.1836C>G (p.Ala612=)
n.2891C>G
1g.151405999G=CA2479570477POGZc.3084C= (p.Ala1028=)
c.2877C= (p.Ala959=)
c.3036C= (p.Ala1012=)
c.3057C= (p.Ala1019=)
n.3184C=
c.2751C= (p.Ala917=)
c.3009C= (p.Ala1003=)
c.2904C= (p.Ala968=)
c.2850C= (p.Ala950=)
c.2928C= (p.Ala976=)
c.2679C= (p.Ala893=)
c.2910C= (p.Ala970=)
c.1836C= (p.Ala612=)
n.2891C=
1g.151405999G>TCA420909694POGZc.3084C>A (p.Ala1028=)
c.2877C>A (p.Ala959=)
c.3036C>A (p.Ala1012=)
c.3057C>A (p.Ala1019=)
n.3184C>A
c.2751C>A (p.Ala917=)
c.3009C>A (p.Ala1003=)
c.2904C>A (p.Ala968=)
c.2850C>A (p.Ala950=)
c.2928C>A (p.Ala976=)
c.2679C>A (p.Ala893=)
c.2910C>A (p.Ala970=)
c.1836C>A (p.Ala612=)
n.2891C>A
1g.151406000G>ACA341946442POGZc.3083C>T (p.Ala1028Val)
c.2876C>T (p.Ala959Val)
c.3035C>T (p.Ala1012Val)
c.3056C>T (p.Ala1019Val)
n.3183C>T
c.2750C>T (p.Ala917Val)
c.3008C>T (p.Ala1003Val)
c.2903C>T (p.Ala968Val)
c.2849C>T (p.Ala950Val)
c.2927C>T (p.Ala976Val)
c.2678C>T (p.Ala893Val)
c.2909C>T (p.Ala970Val)
c.1835C>T (p.Ala612Val)
n.2890C>T
1g.151406000G>CCA341946447POGZc.3083C>G (p.Ala1028Gly)
c.2876C>G (p.Ala959Gly)
c.3035C>G (p.Ala1012Gly)
c.3056C>G (p.Ala1019Gly)
n.3183C>G
c.2750C>G (p.Ala917Gly)
c.3008C>G (p.Ala1003Gly)
c.2903C>G (p.Ala968Gly)
c.2849C>G (p.Ala950Gly)
c.2927C>G (p.Ala976Gly)
c.2678C>G (p.Ala893Gly)
c.2909C>G (p.Ala970Gly)
c.1835C>G (p.Ala612Gly)
n.2890C>G
1g.151406000G>TCA341946451POGZc.3083C>A (p.Ala1028Asp)
c.2876C>A (p.Ala959Asp)
c.3035C>A (p.Ala1012Asp)
c.3056C>A (p.Ala1019Asp)
n.3183C>A
c.2750C>A (p.Ala917Asp)
c.3008C>A (p.Ala1003Asp)
c.2903C>A (p.Ala968Asp)
c.2849C>A (p.Ala950Asp)
c.2927C>A (p.Ala976Asp)
c.2678C>A (p.Ala893Asp)
c.2909C>A (p.Ala970Asp)
c.1835C>A (p.Ala612Asp)
n.2890C>A
 gnomAD v4
1g.151406001C>ACA341946458POGZc.3082G>T (p.Ala1028Ser)
c.2875G>T (p.Ala959Ser)
c.3034G>T (p.Ala1012Ser)
c.3055G>T (p.Ala1019Ser)
n.3182G>T
c.2749G>T (p.Ala917Ser)
c.3007G>T (p.Ala1003Ser)
c.2902G>T (p.Ala968Ser)
c.2848G>T (p.Ala950Ser)
c.2926G>T (p.Ala976Ser)
c.2677G>T (p.Ala893Ser)
c.2908G>T (p.Ala970Ser)
c.1834G>T (p.Ala612Ser)
n.2889G>T
1g.151406001C=CA2479570478POGZc.3082G= (p.Ala1028=)
c.2875G= (p.Ala959=)
c.3034G= (p.Ala1012=)
c.3055G= (p.Ala1019=)
n.3182G=
c.2749G= (p.Ala917=)
c.3007G= (p.Ala1003=)
c.2902G= (p.Ala968=)
c.2848G= (p.Ala950=)
c.2926G= (p.Ala976=)
c.2677G= (p.Ala893=)
c.2908G= (p.Ala970=)
c.1834G= (p.Ala612=)
n.2889G=
1g.151406001C>GCA341946466POGZc.3082G>C (p.Ala1028Pro)
c.2875G>C (p.Ala959Pro)
c.3034G>C (p.Ala1012Pro)
c.3055G>C (p.Ala1019Pro)
n.3182G>C
c.2749G>C (p.Ala917Pro)
c.3007G>C (p.Ala1003Pro)
c.2902G>C (p.Ala968Pro)
c.2848G>C (p.Ala950Pro)
c.2926G>C (p.Ala976Pro)
c.2677G>C (p.Ala893Pro)
c.2908G>C (p.Ala970Pro)
c.1834G>C (p.Ala612Pro)
n.2889G>C
1g.151406001C>TCA1091016POGZc.3082G>A (p.Ala1028Thr)
c.2875G>A (p.Ala959Thr)
c.3034G>A (p.Ala1012Thr)
c.3055G>A (p.Ala1019Thr)
n.3182G>A
c.2749G>A (p.Ala917Thr)
c.3007G>A (p.Ala1003Thr)
c.2902G>A (p.Ala968Thr)
c.2848G>A (p.Ala950Thr)
c.2926G>A (p.Ala976Thr)
c.2677G>A (p.Ala893Thr)
c.2908G>A (p.Ala970Thr)
c.1834G>A (p.Ala612Thr)
n.2889G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.151406002C>ACA341946493POGZc.3081G>T (p.Gln1027His)
c.2874G>T (p.Gln958His)
c.3033G>T (p.Gln1011His)
c.3054G>T (p.Gln1018His)
n.3181G>T
c.2748G>T (p.Gln916His)
c.3006G>T (p.Gln1002His)
c.2901G>T (p.Gln967His)
c.2847G>T (p.Gln949His)
c.2925G>T (p.Gln975His)
c.2676G>T (p.Gln892His)
c.2907G>T (p.Gln969His)
c.1833G>T (p.Gln611His)
n.2888G>T
1g.151406002C>GCA341946495POGZc.3081G>C (p.Gln1027His)
c.2874G>C (p.Gln958His)
c.3033G>C (p.Gln1011His)
c.3054G>C (p.Gln1018His)
n.3181G>C
c.2748G>C (p.Gln916His)
c.3006G>C (p.Gln1002His)
c.2901G>C (p.Gln967His)
c.2847G>C (p.Gln949His)
c.2925G>C (p.Gln975His)
c.2676G>C (p.Gln892His)
c.2907G>C (p.Gln969His)
c.1833G>C (p.Gln611His)
n.2888G>C
1g.151406002C>TCA420909702POGZc.3081G>A (p.Gln1027=)
c.2874G>A (p.Gln958=)
c.3033G>A (p.Gln1011=)
c.3054G>A (p.Gln1018=)
n.3181G>A
c.2748G>A (p.Gln916=)
c.3006G>A (p.Gln1002=)
c.2901G>A (p.Gln967=)
c.2847G>A (p.Gln949=)
c.2925G>A (p.Gln975=)
c.2676G>A (p.Gln892=)
c.2907G>A (p.Gln969=)
c.1833G>A (p.Gln611=)
n.2888G>A
1g.151406003T>ACA341946502POGZc.3080A>T (p.Gln1027Leu)
c.2873A>T (p.Gln958Leu)
c.3032A>T (p.Gln1011Leu)
c.3053A>T (p.Gln1018Leu)
n.3180A>T
c.2747A>T (p.Gln916Leu)
c.3005A>T (p.Gln1002Leu)
c.2900A>T (p.Gln967Leu)
c.2846A>T (p.Gln949Leu)
c.2924A>T (p.Gln975Leu)
c.2675A>T (p.Gln892Leu)
c.2906A>T (p.Gln969Leu)
c.1832A>T (p.Gln611Leu)
n.2887A>T
1g.151406003T>CCA341946497POGZc.3080A>G (p.Gln1027Arg)
c.2873A>G (p.Gln958Arg)
c.3032A>G (p.Gln1011Arg)
c.3053A>G (p.Gln1018Arg)
n.3180A>G
c.2747A>G (p.Gln916Arg)
c.3005A>G (p.Gln1002Arg)
c.2900A>G (p.Gln967Arg)
c.2846A>G (p.Gln949Arg)
c.2924A>G (p.Gln975Arg)
c.2675A>G (p.Gln892Arg)
c.2906A>G (p.Gln969Arg)
c.1832A>G (p.Gln611Arg)
n.2887A>G
 ClinVar dbSNP gnomAD v4
1g.151406003T>GCA341946501POGZc.3080A>C (p.Gln1027Pro)
c.2873A>C (p.Gln958Pro)
c.3032A>C (p.Gln1011Pro)
c.3053A>C (p.Gln1018Pro)
n.3180A>C
c.2747A>C (p.Gln916Pro)
c.3005A>C (p.Gln1002Pro)
c.2900A>C (p.Gln967Pro)
c.2846A>C (p.Gln949Pro)
c.2924A>C (p.Gln975Pro)
c.2675A>C (p.Gln892Pro)
c.2906A>C (p.Gln969Pro)
c.1832A>C (p.Gln611Pro)
n.2887A>C
1g.151406003T=CA2479570479POGZc.3080A= (p.Gln1027=)
c.2873A= (p.Gln958=)
c.3032A= (p.Gln1011=)
c.3053A= (p.Gln1018=)
n.3180A=
c.2747A= (p.Gln916=)
c.3005A= (p.Gln1002=)
c.2900A= (p.Gln967=)
c.2846A= (p.Gln949=)
c.2924A= (p.Gln975=)
c.2675A= (p.Gln892=)
c.2906A= (p.Gln969=)
c.1832A= (p.Gln611=)
n.2887A=
1g.151406004G>ACA319613POGZc.3079C>T (p.Gln1027Ter)
c.2872C>T (p.Gln958Ter)
c.3031C>T (p.Gln1011Ter)
c.3052C>T (p.Gln1018Ter)
n.3179C>T
c.2746C>T (p.Gln916Ter)
c.3004C>T (p.Gln1002Ter)
c.2899C>T (p.Gln967Ter)
c.2845C>T (p.Gln949Ter)
c.2923C>T (p.Gln975Ter)
c.2674C>T (p.Gln892Ter)
c.2905C>T (p.Gln969Ter)
c.1831C>T (p.Gln611Ter)
n.2886C>T
 dbSNP
1g.151406004G>CCA341946505POGZc.3079C>G (p.Gln1027Glu)
c.2872C>G (p.Gln958Glu)
c.3031C>G (p.Gln1011Glu)
c.3052C>G (p.Gln1018Glu)
n.3179C>G
c.2746C>G (p.Gln916Glu)
c.3004C>G (p.Gln1002Glu)
c.2899C>G (p.Gln967Glu)
c.2845C>G (p.Gln949Glu)
c.2923C>G (p.Gln975Glu)
c.2674C>G (p.Gln892Glu)
c.2905C>G (p.Gln969Glu)
c.1831C>G (p.Gln611Glu)
n.2886C>G
1g.151406004G=CA2479570480POGZc.3079C= (p.Gln1027=)
c.2872C= (p.Gln958=)
c.3031C= (p.Gln1011=)
c.3052C= (p.Gln1018=)
n.3179C=
c.2746C= (p.Gln916=)
c.3004C= (p.Gln1002=)
c.2899C= (p.Gln967=)
c.2845C= (p.Gln949=)
c.2923C= (p.Gln975=)
c.2674C= (p.Gln892=)
c.2905C= (p.Gln969=)
c.1831C= (p.Gln611=)
n.2886C=
1g.151406004G>TCA341946508POGZc.3079C>A (p.Gln1027Lys)
c.2872C>A (p.Gln958Lys)
c.3031C>A (p.Gln1011Lys)
c.3052C>A (p.Gln1018Lys)
n.3179C>A
c.2746C>A (p.Gln916Lys)
c.3004C>A (p.Gln1002Lys)
c.2899C>A (p.Gln967Lys)
c.2845C>A (p.Gln949Lys)
c.2923C>A (p.Gln975Lys)
c.2674C>A (p.Gln892Lys)
c.2905C>A (p.Gln969Lys)
c.1831C>A (p.Gln611Lys)
n.2886C>A
1g.151406005G>ACA420909709POGZc.3078C>T (p.Phe1026=)
c.2871C>T (p.Phe957=)
c.3030C>T (p.Phe1010=)
c.3051C>T (p.Phe1017=)
n.3178C>T
c.2745C>T (p.Phe915=)
c.3003C>T (p.Phe1001=)
c.2898C>T (p.Phe966=)
c.2844C>T (p.Phe948=)
c.2922C>T (p.Phe974=)
c.2673C>T (p.Phe891=)
c.2904C>T (p.Phe968=)
c.1830C>T (p.Phe610=)
n.2885C>T
1g.151406005G>CCA341946519POGZc.3078C>G (p.Phe1026Leu)
c.2871C>G (p.Phe957Leu)
c.3030C>G (p.Phe1010Leu)
c.3051C>G (p.Phe1017Leu)
n.3178C>G
c.2745C>G (p.Phe915Leu)
c.3003C>G (p.Phe1001Leu)
c.2898C>G (p.Phe966Leu)
c.2844C>G (p.Phe948Leu)
c.2922C>G (p.Phe974Leu)
c.2673C>G (p.Phe891Leu)
c.2904C>G (p.Phe968Leu)
c.1830C>G (p.Phe610Leu)
n.2885C>G
1g.151406005G>TCA341946523POGZc.3078C>A (p.Phe1026Leu)
c.2871C>A (p.Phe957Leu)
c.3030C>A (p.Phe1010Leu)
c.3051C>A (p.Phe1017Leu)
n.3178C>A
c.2745C>A (p.Phe915Leu)
c.3003C>A (p.Phe1001Leu)
c.2898C>A (p.Phe966Leu)
c.2844C>A (p.Phe948Leu)
c.2922C>A (p.Phe974Leu)
c.2673C>A (p.Phe891Leu)
c.2904C>A (p.Phe968Leu)
c.1830C>A (p.Phe610Leu)
n.2885C>A
1g.151406006A=CA2479570481POGZc.3077T= (p.Phe1026=)
c.2870T= (p.Phe957=)
c.3029T= (p.Phe1010=)
c.3050T= (p.Phe1017=)
n.3177T=
c.2744T= (p.Phe915=)
c.3002T= (p.Phe1001=)
c.2897T= (p.Phe966=)
c.2843T= (p.Phe948=)
c.2921T= (p.Phe974=)
c.2672T= (p.Phe891=)
c.2903T= (p.Phe968=)
c.1829T= (p.Phe610=)
n.2884T=
1g.151406006A>CCA341946541POGZc.3077T>G (p.Phe1026Cys)
c.2870T>G (p.Phe957Cys)
c.3029T>G (p.Phe1010Cys)
c.3050T>G (p.Phe1017Cys)
n.3177T>G
c.2744T>G (p.Phe915Cys)
c.3002T>G (p.Phe1001Cys)
c.2897T>G (p.Phe966Cys)
c.2843T>G (p.Phe948Cys)
c.2921T>G (p.Phe974Cys)
c.2672T>G (p.Phe891Cys)
c.2903T>G (p.Phe968Cys)
c.1829T>G (p.Phe610Cys)
n.2884T>G
1g.151406006A>GCA341946542POGZc.3077T>C (p.Phe1026Ser)
c.2870T>C (p.Phe957Ser)
c.3029T>C (p.Phe1010Ser)
c.3050T>C (p.Phe1017Ser)
n.3177T>C
c.2744T>C (p.Phe915Ser)
c.3002T>C (p.Phe1001Ser)
c.2897T>C (p.Phe966Ser)
c.2843T>C (p.Phe948Ser)
c.2921T>C (p.Phe974Ser)
c.2672T>C (p.Phe891Ser)
c.2903T>C (p.Phe968Ser)
c.1829T>C (p.Phe610Ser)
n.2884T>C
1g.151406006A>TCA341946543POGZc.3077T>A (p.Phe1026Tyr)
c.2870T>A (p.Phe957Tyr)
c.3029T>A (p.Phe1010Tyr)
c.3050T>A (p.Phe1017Tyr)
n.3177T>A
c.2744T>A (p.Phe915Tyr)
c.3002T>A (p.Phe1001Tyr)
c.2897T>A (p.Phe966Tyr)
c.2843T>A (p.Phe948Tyr)
c.2921T>A (p.Phe974Tyr)
c.2672T>A (p.Phe891Tyr)
c.2903T>A (p.Phe968Tyr)
c.1829T>A (p.Phe610Tyr)
n.2884T>A
 dbSNP gnomAD v2 gnomAD v4
1g.151406007A>CCA341946544POGZc.3076T>G (p.Phe1026Val)
c.2869T>G (p.Phe957Val)
c.3028T>G (p.Phe1010Val)
c.3049T>G (p.Phe1017Val)
n.3176T>G
c.2743T>G (p.Phe915Val)
c.3001T>G (p.Phe1001Val)
c.2896T>G (p.Phe966Val)
c.2842T>G (p.Phe948Val)
c.2920T>G (p.Phe974Val)
c.2671T>G (p.Phe891Val)
c.2902T>G (p.Phe968Val)
c.1828T>G (p.Phe610Val)
n.2883T>G
1g.151406007A>GCA341946547POGZc.3076T>C (p.Phe1026Leu)
c.2869T>C (p.Phe957Leu)
c.3028T>C (p.Phe1010Leu)
c.3049T>C (p.Phe1017Leu)
n.3176T>C
c.2743T>C (p.Phe915Leu)
c.3001T>C (p.Phe1001Leu)
c.2896T>C (p.Phe966Leu)
c.2842T>C (p.Phe948Leu)
c.2920T>C (p.Phe974Leu)
c.2671T>C (p.Phe891Leu)
c.2902T>C (p.Phe968Leu)
c.1828T>C (p.Phe610Leu)
n.2883T>C
1g.151406007A>TCA341946551POGZc.3076T>A (p.Phe1026Ile)
c.2869T>A (p.Phe957Ile)
c.3028T>A (p.Phe1010Ile)
c.3049T>A (p.Phe1017Ile)
n.3176T>A
c.2743T>A (p.Phe915Ile)
c.3001T>A (p.Phe1001Ile)
c.2896T>A (p.Phe966Ile)
c.2842T>A (p.Phe948Ile)
c.2920T>A (p.Phe974Ile)
c.2671T>A (p.Phe891Ile)
c.2902T>A (p.Phe968Ile)
c.1828T>A (p.Phe610Ile)
n.2883T>A
1g.151406008A>CCA420909715POGZc.3075T>G (p.Arg1025=)
c.2868T>G (p.Arg956=)
c.3027T>G (p.Arg1009=)
c.3048T>G (p.Arg1016=)
n.3175T>G
c.2742T>G (p.Arg914=)
c.3000T>G (p.Arg1000=)
c.2895T>G (p.Arg965=)
c.2841T>G (p.Arg947=)
c.2919T>G (p.Arg973=)
c.2670T>G (p.Arg890=)
c.2901T>G (p.Arg967=)
c.1827T>G (p.Arg609=)
n.2882T>G
1g.151406008A>GCA420909716POGZc.3075T>C (p.Arg1025=)
c.2868T>C (p.Arg956=)
c.3027T>C (p.Arg1009=)
c.3048T>C (p.Arg1016=)
n.3175T>C
c.2742T>C (p.Arg914=)
c.3000T>C (p.Arg1000=)
c.2895T>C (p.Arg965=)
c.2841T>C (p.Arg947=)
c.2919T>C (p.Arg973=)
c.2670T>C (p.Arg890=)
c.2901T>C (p.Arg967=)
c.1827T>C (p.Arg609=)
n.2882T>C
1g.151406008A>TCA420909717POGZc.3075T>A (p.Arg1025=)
c.2868T>A (p.Arg956=)
c.3027T>A (p.Arg1009=)
c.3048T>A (p.Arg1016=)
n.3175T>A
c.2742T>A (p.Arg914=)
c.3000T>A (p.Arg1000=)
c.2895T>A (p.Arg965=)
c.2841T>A (p.Arg947=)
c.2919T>A (p.Arg973=)
c.2670T>A (p.Arg890=)
c.2901T>A (p.Arg967=)
c.1827T>A (p.Arg609=)
n.2882T>A
1g.151406009C>ACA341946568POGZc.3074G>T (p.Arg1025Leu)
c.2867G>T (p.Arg956Leu)
c.3026G>T (p.Arg1009Leu)
c.3047G>T (p.Arg1016Leu)
n.3174G>T
c.2741G>T (p.Arg914Leu)
c.2999G>T (p.Arg1000Leu)
c.2894G>T (p.Arg965Leu)
c.2840G>T (p.Arg947Leu)
c.2918G>T (p.Arg973Leu)
c.2669G>T (p.Arg890Leu)
c.2900G>T (p.Arg967Leu)
c.1826G>T (p.Arg609Leu)
n.2881G>T
1g.151406009C=CA2479570482POGZc.3074G= (p.Arg1025=)
c.2867G= (p.Arg956=)
c.3026G= (p.Arg1009=)
c.3047G= (p.Arg1016=)
n.3174G=
c.2741G= (p.Arg914=)
c.2999G= (p.Arg1000=)
c.2894G= (p.Arg965=)
c.2840G= (p.Arg947=)
c.2918G= (p.Arg973=)
c.2669G= (p.Arg890=)
c.2900G= (p.Arg967=)
c.1826G= (p.Arg609=)
n.2881G=
1g.151406009C>GCA341946563POGZc.3074G>C (p.Arg1025Pro)
c.2867G>C (p.Arg956Pro)
c.3026G>C (p.Arg1009Pro)
c.3047G>C (p.Arg1016Pro)
n.3174G>C
c.2741G>C (p.Arg914Pro)
c.2999G>C (p.Arg1000Pro)
c.2894G>C (p.Arg965Pro)
c.2840G>C (p.Arg947Pro)
c.2918G>C (p.Arg973Pro)
c.2669G>C (p.Arg890Pro)
c.2900G>C (p.Arg967Pro)
c.1826G>C (p.Arg609Pro)
n.2881G>C
1g.151406009C>TCA341946560POGZc.3074G>A (p.Arg1025His)
c.2867G>A (p.Arg956His)
c.3026G>A (p.Arg1009His)
c.3047G>A (p.Arg1016His)
n.3174G>A
c.2741G>A (p.Arg914His)
c.2999G>A (p.Arg1000His)
c.2894G>A (p.Arg965His)
c.2840G>A (p.Arg947His)
c.2918G>A (p.Arg973His)
c.2669G>A (p.Arg890His)
c.2900G>A (p.Arg967His)
c.1826G>A (p.Arg609His)
n.2881G>A
 dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
1g.151406010G>ACA1091017POGZc.3073C>T (p.Arg1025Cys)
c.2866C>T (p.Arg956Cys)
c.3025C>T (p.Arg1009Cys)
c.3046C>T (p.Arg1016Cys)
n.3173C>T
c.2740C>T (p.Arg914Cys)
c.2998C>T (p.Arg1000Cys)
c.2893C>T (p.Arg965Cys)
c.2839C>T (p.Arg947Cys)
c.2917C>T (p.Arg973Cys)
c.2668C>T (p.Arg890Cys)
c.2899C>T (p.Arg967Cys)
c.1825C>T (p.Arg609Cys)
n.2880C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.151406010G>CCA341946578POGZc.3073C>G (p.Arg1025Gly)
c.2866C>G (p.Arg956Gly)
c.3025C>G (p.Arg1009Gly)
c.3046C>G (p.Arg1016Gly)
n.3173C>G
c.2740C>G (p.Arg914Gly)
c.2998C>G (p.Arg1000Gly)
c.2893C>G (p.Arg965Gly)
c.2839C>G (p.Arg947Gly)
c.2917C>G (p.Arg973Gly)
c.2668C>G (p.Arg890Gly)
c.2899C>G (p.Arg967Gly)
c.1825C>G (p.Arg609Gly)
n.2880C>G
1g.151406010G=CA1144139349POGZc.3073C= (p.Arg1025=)
c.2866C= (p.Arg956=)
c.3025C= (p.Arg1009=)
c.3046C= (p.Arg1016=)
n.3173C=
c.2740C= (p.Arg914=)
c.2998C= (p.Arg1000=)
c.2893C= (p.Arg965=)
c.2839C= (p.Arg947=)
c.2917C= (p.Arg973=)
c.2668C= (p.Arg890=)
c.2899C= (p.Arg967=)
c.1825C= (p.Arg609=)
n.2880C=
1g.151406010G>TCA341946584POGZc.3073C>A (p.Arg1025Ser)
c.2866C>A (p.Arg956Ser)
c.3025C>A (p.Arg1009Ser)
c.3046C>A (p.Arg1016Ser)
n.3173C>A
c.2740C>A (p.Arg914Ser)
c.2998C>A (p.Arg1000Ser)
c.2893C>A (p.Arg965Ser)
c.2839C>A (p.Arg947Ser)
c.2917C>A (p.Arg973Ser)
c.2668C>A (p.Arg890Ser)
c.2899C>A (p.Arg967Ser)
c.1825C>A (p.Arg609Ser)
n.2880C>A
 gnomAD v4
1g.151406011T>ACA420909723POGZc.3072A>T (p.Arg1024=)
c.2865A>T (p.Arg955=)
c.3024A>T (p.Arg1008=)
c.3045A>T (p.Arg1015=)
n.3172A>T
c.2739A>T (p.Arg913=)
c.2997A>T (p.Arg999=)
c.2892A>T (p.Arg964=)
c.2838A>T (p.Arg946=)
c.2916A>T (p.Arg972=)
c.2667A>T (p.Arg889=)
c.2898A>T (p.Arg966=)
c.1824A>T (p.Arg608=)
n.2879A>T
1g.151406011T>CCA1091018POGZc.3072A>G (p.Arg1024=)
c.2865A>G (p.Arg955=)
c.3024A>G (p.Arg1008=)
c.3045A>G (p.Arg1015=)
n.3172A>G
c.2739A>G (p.Arg913=)
c.2997A>G (p.Arg999=)
c.2892A>G (p.Arg964=)
c.2838A>G (p.Arg946=)
c.2916A>G (p.Arg972=)
c.2667A>G (p.Arg889=)
c.2898A>G (p.Arg966=)
c.1824A>G (p.Arg608=)
n.2879A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.151406011T>GCA420909728POGZc.3072A>C (p.Arg1024=)
c.2865A>C (p.Arg955=)
c.3024A>C (p.Arg1008=)
c.3045A>C (p.Arg1015=)
n.3172A>C
c.2739A>C (p.Arg913=)
c.2997A>C (p.Arg999=)
c.2892A>C (p.Arg964=)
c.2838A>C (p.Arg946=)
c.2916A>C (p.Arg972=)
c.2667A>C (p.Arg889=)
c.2898A>C (p.Arg966=)
c.1824A>C (p.Arg608=)
n.2879A>C
1g.151406011T=CA1142156945POGZc.3072A= (p.Arg1024=)
c.2865A= (p.Arg955=)
c.3024A= (p.Arg1008=)
c.3045A= (p.Arg1015=)
n.3172A=
c.2739A= (p.Arg913=)
c.2997A= (p.Arg999=)
c.2892A= (p.Arg964=)
c.2838A= (p.Arg946=)
c.2916A= (p.Arg972=)
c.2667A= (p.Arg889=)
c.2898A= (p.Arg966=)
c.1824A= (p.Arg608=)
n.2879A=
1g.151406012C>ACA341946593POGZc.3071G>T (p.Arg1024Leu)
c.2864G>T (p.Arg955Leu)
c.3023G>T (p.Arg1008Leu)
c.3044G>T (p.Arg1015Leu)
n.3171G>T
c.2738G>T (p.Arg913Leu)
c.2996G>T (p.Arg999Leu)
c.2891G>T (p.Arg964Leu)
c.2837G>T (p.Arg946Leu)
c.2915G>T (p.Arg972Leu)
c.2666G>T (p.Arg889Leu)
c.2897G>T (p.Arg966Leu)
c.1823G>T (p.Arg608Leu)
n.2878G>T
1g.151406012C=CA2479570483POGZc.3071G= (p.Arg1024=)
c.2864G= (p.Arg955=)
c.3023G= (p.Arg1008=)
c.3044G= (p.Arg1015=)
n.3171G=
c.2738G= (p.Arg913=)
c.2996G= (p.Arg999=)
c.2891G= (p.Arg964=)
c.2837G= (p.Arg946=)
c.2915G= (p.Arg972=)
c.2666G= (p.Arg889=)
c.2897G= (p.Arg966=)
c.1823G= (p.Arg608=)
n.2878G=
1g.151406012C>GCA341946596POGZc.3071G>C (p.Arg1024Pro)
c.2864G>C (p.Arg955Pro)
c.3023G>C (p.Arg1008Pro)
c.3044G>C (p.Arg1015Pro)
n.3171G>C
c.2738G>C (p.Arg913Pro)
c.2996G>C (p.Arg999Pro)
c.2891G>C (p.Arg964Pro)
c.2837G>C (p.Arg946Pro)
c.2915G>C (p.Arg972Pro)
c.2666G>C (p.Arg889Pro)
c.2897G>C (p.Arg966Pro)
c.1823G>C (p.Arg608Pro)
n.2878G>C
1g.151406012C>TCA1091019POGZc.3071G>A (p.Arg1024Gln)
c.2864G>A (p.Arg955Gln)
c.3023G>A (p.Arg1008Gln)
c.3044G>A (p.Arg1015Gln)
n.3171G>A
c.2738G>A (p.Arg913Gln)
c.2996G>A (p.Arg999Gln)
c.2891G>A (p.Arg964Gln)
c.2837G>A (p.Arg946Gln)
c.2915G>A (p.Arg972Gln)
c.2666G>A (p.Arg889Gln)
c.2897G>A (p.Arg966Gln)
c.1823G>A (p.Arg608Gln)
n.2878G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
1g.151406013G>ACA341946615POGZc.3070C>T (p.Arg1024Ter)
c.2863C>T (p.Arg955Ter)
c.3022C>T (p.Arg1008Ter)
c.3043C>T (p.Arg1015Ter)
n.3170C>T
c.2737C>T (p.Arg913Ter)
c.2995C>T (p.Arg999Ter)
c.2890C>T (p.Arg964Ter)
c.2836C>T (p.Arg946Ter)
c.2914C>T (p.Arg972Ter)
c.2665C>T (p.Arg889Ter)
c.2896C>T (p.Arg966Ter)
c.1822C>T (p.Arg608Ter)
n.2877C>T
 ClinVar dbSNP COSMIC COSMIC
1g.151406013G>CCA341946620POGZc.3070C>G (p.Arg1024Gly)
c.2863C>G (p.Arg955Gly)
c.3022C>G (p.Arg1008Gly)
c.3043C>G (p.Arg1015Gly)
n.3170C>G
c.2737C>G (p.Arg913Gly)
c.2995C>G (p.Arg999Gly)
c.2890C>G (p.Arg964Gly)
c.2836C>G (p.Arg946Gly)
c.2914C>G (p.Arg972Gly)
c.2665C>G (p.Arg889Gly)
c.2896C>G (p.Arg966Gly)
c.1822C>G (p.Arg608Gly)
n.2877C>G
1g.151406013G=CA2479570484POGZc.3070C= (p.Arg1024=)
c.2863C= (p.Arg955=)
c.3022C= (p.Arg1008=)
c.3043C= (p.Arg1015=)
n.3170C=
c.2737C= (p.Arg913=)
c.2995C= (p.Arg999=)
c.2890C= (p.Arg964=)
c.2836C= (p.Arg946=)
c.2914C= (p.Arg972=)
c.2665C= (p.Arg889=)
c.2896C= (p.Arg966=)
c.1822C= (p.Arg608=)
n.2877C=
1g.151406013G>TCA420909730POGZc.3070C>A (p.Arg1024=)
c.2863C>A (p.Arg955=)
c.3022C>A (p.Arg1008=)
c.3043C>A (p.Arg1015=)
n.3170C>A
c.2737C>A (p.Arg913=)
c.2995C>A (p.Arg999=)
c.2890C>A (p.Arg964=)
c.2836C>A (p.Arg946=)
c.2914C>A (p.Arg972=)
c.2665C>A (p.Arg889=)
c.2896C>A (p.Arg966=)
c.1822C>A (p.Arg608=)
n.2877C>A
1g.151406014A>CCA420909734POGZc.3069T>G (p.Leu1023=)
c.2862T>G (p.Leu954=)
c.3021T>G (p.Leu1007=)
c.3042T>G (p.Leu1014=)
n.3169T>G
c.2736T>G (p.Leu912=)
c.2994T>G (p.Leu998=)
c.2889T>G (p.Leu963=)
c.2835T>G (p.Leu945=)
c.2913T>G (p.Leu971=)
c.2664T>G (p.Leu888=)
c.2895T>G (p.Leu965=)
c.1821T>G (p.Leu607=)
n.2876T>G
1g.151406014A>GCA420909735POGZc.3069T>C (p.Leu1023=)
c.2862T>C (p.Leu954=)
c.3021T>C (p.Leu1007=)
c.3042T>C (p.Leu1014=)
n.3169T>C
c.2736T>C (p.Leu912=)
c.2994T>C (p.Leu998=)
c.2889T>C (p.Leu963=)
c.2835T>C (p.Leu945=)
c.2913T>C (p.Leu971=)
c.2664T>C (p.Leu888=)
c.2895T>C (p.Leu965=)
c.1821T>C (p.Leu607=)
n.2876T>C
1g.151406014A>TCA420909737POGZc.3069T>A (p.Leu1023=)
c.2862T>A (p.Leu954=)
c.3021T>A (p.Leu1007=)
c.3042T>A (p.Leu1014=)
n.3169T>A
c.2736T>A (p.Leu912=)
c.2994T>A (p.Leu998=)
c.2889T>A (p.Leu963=)
c.2835T>A (p.Leu945=)
c.2913T>A (p.Leu971=)
c.2664T>A (p.Leu888=)
c.2895T>A (p.Leu965=)
c.1821T>A (p.Leu607=)
n.2876T>A
 gnomAD v4
1g.151406015A>CCA341946646POGZc.3068T>G (p.Leu1023Arg)
c.2861T>G (p.Leu954Arg)
c.3020T>G (p.Leu1007Arg)
c.3041T>G (p.Leu1014Arg)
n.3168T>G
c.2735T>G (p.Leu912Arg)
c.2993T>G (p.Leu998Arg)
c.2888T>G (p.Leu963Arg)
c.2834T>G (p.Leu945Arg)
c.2912T>G (p.Leu971Arg)
c.2663T>G (p.Leu888Arg)
c.2894T>G (p.Leu965Arg)
c.1820T>G (p.Leu607Arg)
n.2875T>G
1g.151406015A>GCA341946649POGZc.3068T>C (p.Leu1023Pro)
c.2861T>C (p.Leu954Pro)
c.3020T>C (p.Leu1007Pro)
c.3041T>C (p.Leu1014Pro)
n.3168T>C
c.2735T>C (p.Leu912Pro)
c.2993T>C (p.Leu998Pro)
c.2888T>C (p.Leu963Pro)
c.2834T>C (p.Leu945Pro)
c.2912T>C (p.Leu971Pro)
c.2663T>C (p.Leu888Pro)
c.2894T>C (p.Leu965Pro)
c.1820T>C (p.Leu607Pro)
n.2875T>C
1g.151406015A>TCA341946654POGZc.3068T>A (p.Leu1023His)
c.2861T>A (p.Leu954His)
c.3020T>A (p.Leu1007His)
c.3041T>A (p.Leu1014His)
n.3168T>A
c.2735T>A (p.Leu912His)
c.2993T>A (p.Leu998His)
c.2888T>A (p.Leu963His)
c.2834T>A (p.Leu945His)
c.2912T>A (p.Leu971His)
c.2663T>A (p.Leu888His)
c.2894T>A (p.Leu965His)
c.1820T>A (p.Leu607His)
n.2875T>A
1g.151406016G>ACA341946663POGZc.3067C>T (p.Leu1023Phe)
c.2860C>T (p.Leu954Phe)
c.3019C>T (p.Leu1007Phe)
c.3040C>T (p.Leu1014Phe)
n.3167C>T
c.2734C>T (p.Leu912Phe)
c.2992C>T (p.Leu998Phe)
c.2887C>T (p.Leu963Phe)
c.2833C>T (p.Leu945Phe)
c.2911C>T (p.Leu971Phe)
c.2662C>T (p.Leu888Phe)
c.2893C>T (p.Leu965Phe)
c.1819C>T (p.Leu607Phe)
n.2874C>T
1g.151406016G>CCA341946662POGZc.3067C>G (p.Leu1023Val)
c.2860C>G (p.Leu954Val)
c.3019C>G (p.Leu1007Val)
c.3040C>G (p.Leu1014Val)
n.3167C>G
c.2734C>G (p.Leu912Val)
c.2992C>G (p.Leu998Val)
c.2887C>G (p.Leu963Val)
c.2833C>G (p.Leu945Val)
c.2911C>G (p.Leu971Val)
c.2662C>G (p.Leu888Val)
c.2893C>G (p.Leu965Val)
c.1819C>G (p.Leu607Val)
n.2874C>G
1g.151406016G>TCA341946657POGZc.3067C>A (p.Leu1023Ile)
c.2860C>A (p.Leu954Ile)
c.3019C>A (p.Leu1007Ile)
c.3040C>A (p.Leu1014Ile)
n.3167C>A
c.2734C>A (p.Leu912Ile)
c.2992C>A (p.Leu998Ile)
c.2887C>A (p.Leu963Ile)
c.2833C>A (p.Leu945Ile)
c.2911C>A (p.Leu971Ile)
c.2662C>A (p.Leu888Ile)
c.2893C>A (p.Leu965Ile)
c.1819C>A (p.Leu607Ile)
n.2874C>A
1g.151406017C>ACA341946667POGZc.3066G>T (p.Trp1022Cys)
c.2859G>T (p.Trp953Cys)
c.3018G>T (p.Trp1006Cys)
c.3039G>T (p.Trp1013Cys)
n.3166G>T
c.2733G>T (p.Trp911Cys)
c.2991G>T (p.Trp997Cys)
c.2886G>T (p.Trp962Cys)
c.2832G>T (p.Trp944Cys)
c.2910G>T (p.Trp970Cys)
c.2661G>T (p.Trp887Cys)
c.2892G>T (p.Trp964Cys)
c.1818G>T (p.Trp606Cys)
n.2873G>T
1g.151406017C>GCA341946669POGZc.3066G>C (p.Trp1022Cys)
c.2859G>C (p.Trp953Cys)
c.3018G>C (p.Trp1006Cys)
c.3039G>C (p.Trp1013Cys)
n.3166G>C
c.2733G>C (p.Trp911Cys)
c.2991G>C (p.Trp997Cys)
c.2886G>C (p.Trp962Cys)
c.2832G>C (p.Trp944Cys)
c.2910G>C (p.Trp970Cys)
c.2661G>C (p.Trp887Cys)
c.2892G>C (p.Trp964Cys)
c.1818G>C (p.Trp606Cys)
n.2873G>C
 gnomAD v4
1g.151406017C>TCA341946671POGZc.3066G>A (p.Trp1022Ter)
c.2859G>A (p.Trp953Ter)
c.3018G>A (p.Trp1006Ter)
c.3039G>A (p.Trp1013Ter)
n.3166G>A
c.2733G>A (p.Trp911Ter)
c.2991G>A (p.Trp997Ter)
c.2886G>A (p.Trp962Ter)
c.2832G>A (p.Trp944Ter)
c.2910G>A (p.Trp970Ter)
c.2661G>A (p.Trp887Ter)
c.2892G>A (p.Trp964Ter)
c.1818G>A (p.Trp606Ter)
n.2873G>A
1g.151406018C>ACA341946675POGZc.3065G>T (p.Trp1022Leu)
c.2858G>T (p.Trp953Leu)
c.3017G>T (p.Trp1006Leu)
c.3038G>T (p.Trp1013Leu)
n.3165G>T
c.2732G>T (p.Trp911Leu)
c.2990G>T (p.Trp997Leu)
c.2885G>T (p.Trp962Leu)
c.2831G>T (p.Trp944Leu)
c.2909G>T (p.Trp970Leu)
c.2660G>T (p.Trp887Leu)
c.2891G>T (p.Trp964Leu)
c.1817G>T (p.Trp606Leu)
n.2872G>T
1g.151406018C>GCA341946682POGZc.3065G>C (p.Trp1022Ser)
c.2858G>C (p.Trp953Ser)
c.3017G>C (p.Trp1006Ser)
c.3038G>C (p.Trp1013Ser)
n.3165G>C
c.2732G>C (p.Trp911Ser)
c.2990G>C (p.Trp997Ser)
c.2885G>C (p.Trp962Ser)
c.2831G>C (p.Trp944Ser)
c.2909G>C (p.Trp970Ser)
c.2660G>C (p.Trp887Ser)
c.2891G>C (p.Trp964Ser)
c.1817G>C (p.Trp606Ser)
n.2872G>C
1g.151406018C>TCA341946686POGZc.3065G>A (p.Trp1022Ter)
c.2858G>A (p.Trp953Ter)
c.3017G>A (p.Trp1006Ter)
c.3038G>A (p.Trp1013Ter)
n.3165G>A
c.2732G>A (p.Trp911Ter)
c.2990G>A (p.Trp997Ter)
c.2885G>A (p.Trp962Ter)
c.2831G>A (p.Trp944Ter)
c.2909G>A (p.Trp970Ter)
c.2660G>A (p.Trp887Ter)
c.2891G>A (p.Trp964Ter)
c.1817G>A (p.Trp606Ter)
n.2872G>A
1g.151406019A>CCA341946694POGZc.3064T>G (p.Trp1022Gly)
c.2857T>G (p.Trp953Gly)
c.3016T>G (p.Trp1006Gly)
c.3037T>G (p.Trp1013Gly)
n.3164T>G
c.2731T>G (p.Trp911Gly)
c.2989T>G (p.Trp997Gly)
c.2884T>G (p.Trp962Gly)
c.2830T>G (p.Trp944Gly)
c.2908T>G (p.Trp970Gly)
c.2659T>G (p.Trp887Gly)
c.2890T>G (p.Trp964Gly)
c.1816T>G (p.Trp606Gly)
n.2871T>G
1g.151406019A>GCA341946698POGZc.3064T>C (p.Trp1022Arg)
c.2857T>C (p.Trp953Arg)
c.3016T>C (p.Trp1006Arg)
c.3037T>C (p.Trp1013Arg)
n.3164T>C
c.2731T>C (p.Trp911Arg)
c.2989T>C (p.Trp997Arg)
c.2884T>C (p.Trp962Arg)
c.2830T>C (p.Trp944Arg)
c.2908T>C (p.Trp970Arg)
c.2659T>C (p.Trp887Arg)
c.2890T>C (p.Trp964Arg)
c.1816T>C (p.Trp606Arg)
n.2871T>C
1g.151406019A>TCA341946701POGZc.3064T>A (p.Trp1022Arg)
c.2857T>A (p.Trp953Arg)
c.3016T>A (p.Trp1006Arg)
c.3037T>A (p.Trp1013Arg)
n.3164T>A
c.2731T>A (p.Trp911Arg)
c.2989T>A (p.Trp997Arg)
c.2884T>A (p.Trp962Arg)
c.2830T>A (p.Trp944Arg)
c.2908T>A (p.Trp970Arg)
c.2659T>A (p.Trp887Arg)
c.2890T>A (p.Trp964Arg)
c.1816T>A (p.Trp606Arg)
n.2871T>A
1g.151406020A>CCA420909751POGZc.3063T>G (p.Arg1021=)
c.2856T>G (p.Arg952=)
c.3015T>G (p.Arg1005=)
c.3036T>G (p.Arg1012=)
n.3163T>G
c.2730T>G (p.Arg910=)
c.2988T>G (p.Arg996=)
c.2883T>G (p.Arg961=)
c.2829T>G (p.Arg943=)
c.2907T>G (p.Arg969=)
c.2658T>G (p.Arg886=)
c.2889T>G (p.Arg963=)
c.1815T>G (p.Arg605=)
n.2870T>G
1g.151406020A>GCA420909752POGZc.3063T>C (p.Arg1021=)
c.2856T>C (p.Arg952=)
c.3015T>C (p.Arg1005=)
c.3036T>C (p.Arg1012=)
n.3163T>C
c.2730T>C (p.Arg910=)
c.2988T>C (p.Arg996=)
c.2883T>C (p.Arg961=)
c.2829T>C (p.Arg943=)
c.2907T>C (p.Arg969=)
c.2658T>C (p.Arg886=)
c.2889T>C (p.Arg963=)
c.1815T>C (p.Arg605=)
n.2870T>C
1g.151406020A>TCA420909753POGZc.3063T>A (p.Arg1021=)
c.2856T>A (p.Arg952=)
c.3015T>A (p.Arg1005=)
c.3036T>A (p.Arg1012=)
n.3163T>A
c.2730T>A (p.Arg910=)
c.2988T>A (p.Arg996=)
c.2883T>A (p.Arg961=)
c.2829T>A (p.Arg943=)
c.2907T>A (p.Arg969=)
c.2658T>A (p.Arg886=)
c.2889T>A (p.Arg963=)
c.1815T>A (p.Arg605=)
n.2870T>A
1g.151406021C>ACA341946711POGZc.3062G>T (p.Arg1021Leu)
c.2855G>T (p.Arg952Leu)
c.3014G>T (p.Arg1005Leu)
c.3035G>T (p.Arg1012Leu)
n.3162G>T
c.2729G>T (p.Arg910Leu)
c.2987G>T (p.Arg996Leu)
c.2882G>T (p.Arg961Leu)
c.2828G>T (p.Arg943Leu)
c.2906G>T (p.Arg969Leu)
c.2657G>T (p.Arg886Leu)
c.2888G>T (p.Arg963Leu)
c.1814G>T (p.Arg605Leu)
n.2869G>T
 dbSNP
1g.151406021C=CA1149054913POGZc.3062G= (p.Arg1021=)
c.2855G= (p.Arg952=)
c.3014G= (p.Arg1005=)
c.3035G= (p.Arg1012=)
n.3162G=
c.2729G= (p.Arg910=)
c.2987G= (p.Arg996=)
c.2882G= (p.Arg961=)
c.2828G= (p.Arg943=)
c.2906G= (p.Arg969=)
c.2657G= (p.Arg886=)
c.2888G= (p.Arg963=)
c.1814G= (p.Arg605=)
n.2869G=
1g.151406021C>GCA341946714POGZc.3062G>C (p.Arg1021Pro)
c.2855G>C (p.Arg952Pro)
c.3014G>C (p.Arg1005Pro)
c.3035G>C (p.Arg1012Pro)
n.3162G>C
c.2729G>C (p.Arg910Pro)
c.2987G>C (p.Arg996Pro)
c.2882G>C (p.Arg961Pro)
c.2828G>C (p.Arg943Pro)
c.2906G>C (p.Arg969Pro)
c.2657G>C (p.Arg886Pro)
c.2888G>C (p.Arg963Pro)
c.1814G>C (p.Arg605Pro)
n.2869G>C
1g.151406021C>TCA1091020POGZc.3062G>A (p.Arg1021His)
c.2855G>A (p.Arg952His)
c.3014G>A (p.Arg1005His)
c.3035G>A (p.Arg1012His)
n.3162G>A
c.2729G>A (p.Arg910His)
c.2987G>A (p.Arg996His)
c.2882G>A (p.Arg961His)
c.2828G>A (p.Arg943His)
c.2906G>A (p.Arg969His)
c.2657G>A (p.Arg886His)
c.2888G>A (p.Arg963His)
c.1814G>A (p.Arg605His)
n.2869G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.151406022G>ACA341946733POGZc.3061C>T (p.Arg1021Cys)
c.2854C>T (p.Arg952Cys)
c.3013C>T (p.Arg1005Cys)
c.3034C>T (p.Arg1012Cys)
n.3161C>T
c.2728C>T (p.Arg910Cys)
c.2986C>T (p.Arg996Cys)
c.2881C>T (p.Arg961Cys)
c.2827C>T (p.Arg943Cys)
c.2905C>T (p.Arg969Cys)
c.2656C>T (p.Arg886Cys)
c.2887C>T (p.Arg963Cys)
c.1813C>T (p.Arg605Cys)
n.2868C>T
 dbSNP gnomAD v2 gnomAD v4
1g.151406022G>CCA341946726POGZc.3061C>G (p.Arg1021Gly)
c.2854C>G (p.Arg952Gly)
c.3013C>G (p.Arg1005Gly)
c.3034C>G (p.Arg1012Gly)
n.3161C>G
c.2728C>G (p.Arg910Gly)
c.2986C>G (p.Arg996Gly)
c.2881C>G (p.Arg961Gly)
c.2827C>G (p.Arg943Gly)
c.2905C>G (p.Arg969Gly)
c.2656C>G (p.Arg886Gly)
c.2887C>G (p.Arg963Gly)
c.1813C>G (p.Arg605Gly)
n.2868C>G
1g.151406022G=CA2479570485POGZc.3061C= (p.Arg1021=)
c.2854C= (p.Arg952=)
c.3013C= (p.Arg1005=)
c.3034C= (p.Arg1012=)
n.3161C=
c.2728C= (p.Arg910=)
c.2986C= (p.Arg996=)
c.2881C= (p.Arg961=)
c.2827C= (p.Arg943=)
c.2905C= (p.Arg969=)
c.2656C= (p.Arg886=)
c.2887C= (p.Arg963=)
c.1813C= (p.Arg605=)
n.2868C=
1g.151406022G>TCA1091021POGZc.3061C>A (p.Arg1021Ser)
c.2854C>A (p.Arg952Ser)
c.3013C>A (p.Arg1005Ser)
c.3034C>A (p.Arg1012Ser)
n.3161C>A
c.2728C>A (p.Arg910Ser)
c.2986C>A (p.Arg996Ser)
c.2881C>A (p.Arg961Ser)
c.2827C>A (p.Arg943Ser)
c.2905C>A (p.Arg969Ser)
c.2656C>A (p.Arg886Ser)
c.2887C>A (p.Arg963Ser)
c.1813C>A (p.Arg605Ser)
n.2868C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.151406023G>ACA420909760POGZc.3060C>T (p.Arg1020=)
c.2853C>T (p.Arg951=)
c.3012C>T (p.Arg1004=)
c.3033C>T (p.Arg1011=)
n.3160C>T
c.2727C>T (p.Arg909=)
c.2985C>T (p.Arg995=)
c.2880C>T (p.Arg960=)
c.2826C>T (p.Arg942=)
c.2904C>T (p.Arg968=)
c.2655C>T (p.Arg885=)
c.2886C>T (p.Arg962=)
c.1812C>T (p.Arg604=)
n.2867C>T
 dbSNP gnomAD v4
1g.151406023G>CCA420909761POGZc.3060C>G (p.Arg1020=)
c.2853C>G (p.Arg951=)
c.3012C>G (p.Arg1004=)
c.3033C>G (p.Arg1011=)
n.3160C>G
c.2727C>G (p.Arg909=)
c.2985C>G (p.Arg995=)
c.2880C>G (p.Arg960=)
c.2826C>G (p.Arg942=)
c.2904C>G (p.Arg968=)
c.2655C>G (p.Arg885=)
c.2886C>G (p.Arg962=)
c.1812C>G (p.Arg604=)
n.2867C>G
1g.151406023G=CA2479570486POGZc.3060C= (p.Arg1020=)
c.2853C= (p.Arg951=)
c.3012C= (p.Arg1004=)
c.3033C= (p.Arg1011=)
n.3160C=
c.2727C= (p.Arg909=)
c.2985C= (p.Arg995=)
c.2880C= (p.Arg960=)
c.2826C= (p.Arg942=)
c.2904C= (p.Arg968=)
c.2655C= (p.Arg885=)
c.2886C= (p.Arg962=)
c.1812C= (p.Arg604=)
n.2867C=
1g.151406023G>TCA420909762POGZc.3060C>A (p.Arg1020=)
c.2853C>A (p.Arg951=)
c.3012C>A (p.Arg1004=)
c.3033C>A (p.Arg1011=)
n.3160C>A
c.2727C>A (p.Arg909=)
c.2985C>A (p.Arg995=)
c.2880C>A (p.Arg960=)
c.2826C>A (p.Arg942=)
c.2904C>A (p.Arg968=)
c.2655C>A (p.Arg885=)
c.2886C>A (p.Arg962=)
c.1812C>A (p.Arg604=)
n.2867C>A
1g.151406024C>ACA341946744POGZc.3059G>T (p.Arg1020Leu)
c.2852G>T (p.Arg951Leu)
c.3011G>T (p.Arg1004Leu)
c.3032G>T (p.Arg1011Leu)
n.3159G>T
c.2726G>T (p.Arg909Leu)
c.2984G>T (p.Arg995Leu)
c.2879G>T (p.Arg960Leu)
c.2825G>T (p.Arg942Leu)
c.2903G>T (p.Arg968Leu)
c.2654G>T (p.Arg885Leu)
c.2885G>T (p.Arg962Leu)
c.1811G>T (p.Arg604Leu)
n.2866G>T
1g.151406024C=CA2479570487POGZc.3059G= (p.Arg1020=)
c.2852G= (p.Arg951=)
c.3011G= (p.Arg1004=)
c.3032G= (p.Arg1011=)
n.3159G=
c.2726G= (p.Arg909=)
c.2984G= (p.Arg995=)
c.2879G= (p.Arg960=)
c.2825G= (p.Arg942=)
c.2903G= (p.Arg968=)
c.2654G= (p.Arg885=)
c.2885G= (p.Arg962=)
c.1811G= (p.Arg604=)
n.2866G=
1g.151406024C>GCA341946748POGZc.3059G>C (p.Arg1020Pro)
c.2852G>C (p.Arg951Pro)
c.3011G>C (p.Arg1004Pro)
c.3032G>C (p.Arg1011Pro)
n.3159G>C
c.2726G>C (p.Arg909Pro)
c.2984G>C (p.Arg995Pro)
c.2879G>C (p.Arg960Pro)
c.2825G>C (p.Arg942Pro)
c.2903G>C (p.Arg968Pro)
c.2654G>C (p.Arg885Pro)
c.2885G>C (p.Arg962Pro)
c.1811G>C (p.Arg604Pro)
n.2866G>C
1g.151406024C>TCA1091022POGZc.3059G>A (p.Arg1020His)
c.2852G>A (p.Arg951His)
c.3011G>A (p.Arg1004His)
c.3032G>A (p.Arg1011His)
n.3159G>A
c.2726G>A (p.Arg909His)
c.2984G>A (p.Arg995His)
c.2879G>A (p.Arg960His)
c.2825G>A (p.Arg942His)
c.2903G>A (p.Arg968His)
c.2654G>A (p.Arg885His)
c.2885G>A (p.Arg962His)
c.1811G>A (p.Arg604His)
n.2866G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4

Number of alleles fetched