Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.151405824A>CCA341944817POGZc.3259T>G (p.Trp1087Gly)
c.3052T>G (p.Trp1018Gly)
c.3211T>G (p.Trp1071Gly)
c.3232T>G (p.Trp1078Gly)
n.3359T>G
c.2926T>G (p.Trp976Gly)
c.3184T>G (p.Trp1062Gly)
c.3079T>G (p.Trp1027Gly)
c.3025T>G (p.Trp1009Gly)
c.3103T>G (p.Trp1035Gly)
c.2854T>G (p.Trp952Gly)
c.3085T>G (p.Trp1029Gly)
c.2011T>G (p.Trp671Gly)
n.3066T>G
1g.151405824A>GCA341944819POGZc.3259T>C (p.Trp1087Arg)
c.3052T>C (p.Trp1018Arg)
c.3211T>C (p.Trp1071Arg)
c.3232T>C (p.Trp1078Arg)
n.3359T>C
c.2926T>C (p.Trp976Arg)
c.3184T>C (p.Trp1062Arg)
c.3079T>C (p.Trp1027Arg)
c.3025T>C (p.Trp1009Arg)
c.3103T>C (p.Trp1035Arg)
c.2854T>C (p.Trp952Arg)
c.3085T>C (p.Trp1029Arg)
c.2011T>C (p.Trp671Arg)
n.3066T>C
1g.151405824A>TCA341944822POGZc.3259T>A (p.Trp1087Arg)
c.3052T>A (p.Trp1018Arg)
c.3211T>A (p.Trp1071Arg)
c.3232T>A (p.Trp1078Arg)
n.3359T>A
c.2926T>A (p.Trp976Arg)
c.3184T>A (p.Trp1062Arg)
c.3079T>A (p.Trp1027Arg)
c.3025T>A (p.Trp1009Arg)
c.3103T>A (p.Trp1035Arg)
c.2854T>A (p.Trp952Arg)
c.3085T>A (p.Trp1029Arg)
c.2011T>A (p.Trp671Arg)
n.3066T>A
1g.151405825C>ACA341944826POGZc.3258G>T (p.Glu1086Asp)
c.3051G>T (p.Glu1017Asp)
c.3210G>T (p.Glu1070Asp)
c.3231G>T (p.Glu1077Asp)
n.3358G>T
c.2925G>T (p.Glu975Asp)
c.3183G>T (p.Glu1061Asp)
c.3078G>T (p.Glu1026Asp)
c.3024G>T (p.Glu1008Asp)
c.3102G>T (p.Glu1034Asp)
c.2853G>T (p.Glu951Asp)
c.3084G>T (p.Glu1028Asp)
c.2010G>T (p.Glu670Asp)
n.3065G>T
1g.151405825C>GCA341944829POGZc.3258G>C (p.Glu1086Asp)
c.3051G>C (p.Glu1017Asp)
c.3210G>C (p.Glu1070Asp)
c.3231G>C (p.Glu1077Asp)
n.3358G>C
c.2925G>C (p.Glu975Asp)
c.3183G>C (p.Glu1061Asp)
c.3078G>C (p.Glu1026Asp)
c.3024G>C (p.Glu1008Asp)
c.3102G>C (p.Glu1034Asp)
c.2853G>C (p.Glu951Asp)
c.3084G>C (p.Glu1028Asp)
c.2010G>C (p.Glu670Asp)
n.3065G>C
1g.151405825C>TCA420909465POGZc.3258G>A (p.Glu1086=)
c.3051G>A (p.Glu1017=)
c.3210G>A (p.Glu1070=)
c.3231G>A (p.Glu1077=)
n.3358G>A
c.2925G>A (p.Glu975=)
c.3183G>A (p.Glu1061=)
c.3078G>A (p.Glu1026=)
c.3024G>A (p.Glu1008=)
c.3102G>A (p.Glu1034=)
c.2853G>A (p.Glu951=)
c.3084G>A (p.Glu1028=)
c.2010G>A (p.Glu670=)
n.3065G>A
1g.151405826T>ACA341944834POGZc.3257A>T (p.Glu1086Val)
c.3050A>T (p.Glu1017Val)
c.3209A>T (p.Glu1070Val)
c.3230A>T (p.Glu1077Val)
n.3357A>T
c.2924A>T (p.Glu975Val)
c.3182A>T (p.Glu1061Val)
c.3077A>T (p.Glu1026Val)
c.3023A>T (p.Glu1008Val)
c.3101A>T (p.Glu1034Val)
c.2852A>T (p.Glu951Val)
c.3083A>T (p.Glu1028Val)
c.2009A>T (p.Glu670Val)
n.3064A>T
1g.151405826T>CCA341944837POGZc.3257A>G (p.Glu1086Gly)
c.3050A>G (p.Glu1017Gly)
c.3209A>G (p.Glu1070Gly)
c.3230A>G (p.Glu1077Gly)
n.3357A>G
c.2924A>G (p.Glu975Gly)
c.3182A>G (p.Glu1061Gly)
c.3077A>G (p.Glu1026Gly)
c.3023A>G (p.Glu1008Gly)
c.3101A>G (p.Glu1034Gly)
c.2852A>G (p.Glu951Gly)
c.3083A>G (p.Glu1028Gly)
c.2009A>G (p.Glu670Gly)
n.3064A>G
1g.151405826T>GCA341944839POGZc.3257A>C (p.Glu1086Ala)
c.3050A>C (p.Glu1017Ala)
c.3209A>C (p.Glu1070Ala)
c.3230A>C (p.Glu1077Ala)
n.3357A>C
c.2924A>C (p.Glu975Ala)
c.3182A>C (p.Glu1061Ala)
c.3077A>C (p.Glu1026Ala)
c.3023A>C (p.Glu1008Ala)
c.3101A>C (p.Glu1034Ala)
c.2852A>C (p.Glu951Ala)
c.3083A>C (p.Glu1028Ala)
c.2009A>C (p.Glu670Ala)
n.3064A>C
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.151405826T=CA2479570442POGZc.3257A= (p.Glu1086=)
c.3050A= (p.Glu1017=)
c.3209A= (p.Glu1070=)
c.3230A= (p.Glu1077=)
n.3357A=
c.2924A= (p.Glu975=)
c.3182A= (p.Glu1061=)
c.3077A= (p.Glu1026=)
c.3023A= (p.Glu1008=)
c.3101A= (p.Glu1034=)
c.2852A= (p.Glu951=)
c.3083A= (p.Glu1028=)
c.2009A= (p.Glu670=)
n.3064A=
1g.151405827C>ACA341944843POGZc.3256G>T (p.Glu1086Ter)
c.3049G>T (p.Glu1017Ter)
c.3208G>T (p.Glu1070Ter)
c.3229G>T (p.Glu1077Ter)
n.3356G>T
c.2923G>T (p.Glu975Ter)
c.3181G>T (p.Glu1061Ter)
c.3076G>T (p.Glu1026Ter)
c.3022G>T (p.Glu1008Ter)
c.3100G>T (p.Glu1034Ter)
c.2851G>T (p.Glu951Ter)
c.3082G>T (p.Glu1028Ter)
c.2008G>T (p.Glu670Ter)
n.3063G>T
1g.151405827C>GCA341944846POGZc.3256G>C (p.Glu1086Gln)
c.3049G>C (p.Glu1017Gln)
c.3208G>C (p.Glu1070Gln)
c.3229G>C (p.Glu1077Gln)
n.3356G>C
c.2923G>C (p.Glu975Gln)
c.3181G>C (p.Glu1061Gln)
c.3076G>C (p.Glu1026Gln)
c.3022G>C (p.Glu1008Gln)
c.3100G>C (p.Glu1034Gln)
c.2851G>C (p.Glu951Gln)
c.3082G>C (p.Glu1028Gln)
c.2008G>C (p.Glu670Gln)
n.3063G>C
1g.151405827C>TCA341944848POGZc.3256G>A (p.Glu1086Lys)
c.3049G>A (p.Glu1017Lys)
c.3208G>A (p.Glu1070Lys)
c.3229G>A (p.Glu1077Lys)
n.3356G>A
c.2923G>A (p.Glu975Lys)
c.3181G>A (p.Glu1061Lys)
c.3076G>A (p.Glu1026Lys)
c.3022G>A (p.Glu1008Lys)
c.3100G>A (p.Glu1034Lys)
c.2851G>A (p.Glu951Lys)
c.3082G>A (p.Glu1028Lys)
c.2008G>A (p.Glu670Lys)
n.3063G>A
1g.151405827_151405829delinsCATCA2479570443POGZc.3254_3256delinsATG (p.Tyr1085=)
c.3047_3049delinsATG (p.Tyr1016=)
c.3206_3208delinsATG (p.Tyr1069=)
c.3227_3229delinsATG (p.Tyr1076=)
n.3354_3356delinsATG
c.2921_2923delinsATG (p.Tyr974=)
c.3179_3181delinsATG (p.Tyr1060=)
c.3074_3076delinsATG (p.Tyr1025=)
c.3020_3022delinsATG (p.Tyr1007=)
c.3098_3100delinsATG (p.Tyr1033=)
c.2849_2851delinsATG (p.Tyr950=)
c.3080_3082delinsATG (p.Tyr1027=)
c.2006_2008delinsATG (p.Tyr669=)
n.3061_3063delinsATG
1g.151405828A=CA2479570444POGZc.3255T= (p.Tyr1085=)
c.3048T= (p.Tyr1016=)
c.3207T= (p.Tyr1069=)
c.3228T= (p.Tyr1076=)
n.3355T=
c.2922T= (p.Tyr974=)
c.3180T= (p.Tyr1060=)
c.3075T= (p.Tyr1025=)
c.3021T= (p.Tyr1007=)
c.3099T= (p.Tyr1033=)
c.2850T= (p.Tyr950=)
c.3081T= (p.Tyr1027=)
c.2007T= (p.Tyr669=)
n.3062T=
1g.151405828A>CCA341944851POGZc.3255T>G (p.Tyr1085Ter)
c.3048T>G (p.Tyr1016Ter)
c.3207T>G (p.Tyr1069Ter)
c.3228T>G (p.Tyr1076Ter)
n.3355T>G
c.2922T>G (p.Tyr974Ter)
c.3180T>G (p.Tyr1060Ter)
c.3075T>G (p.Tyr1025Ter)
c.3021T>G (p.Tyr1007Ter)
c.3099T>G (p.Tyr1033Ter)
c.2850T>G (p.Tyr950Ter)
c.3081T>G (p.Tyr1027Ter)
c.2007T>G (p.Tyr669Ter)
n.3062T>G
1g.151405828A>GCA420909472POGZc.3255T>C (p.Tyr1085=)
c.3048T>C (p.Tyr1016=)
c.3207T>C (p.Tyr1069=)
c.3228T>C (p.Tyr1076=)
n.3355T>C
c.2922T>C (p.Tyr974=)
c.3180T>C (p.Tyr1060=)
c.3075T>C (p.Tyr1025=)
c.3021T>C (p.Tyr1007=)
c.3099T>C (p.Tyr1033=)
c.2850T>C (p.Tyr950=)
c.3081T>C (p.Tyr1027=)
c.2007T>C (p.Tyr669=)
n.3062T>C
dbSNP gnomAD v2 gnomAD v4
1g.151405828A>TCA341944854POGZc.3255T>A (p.Tyr1085Ter)
c.3048T>A (p.Tyr1016Ter)
c.3207T>A (p.Tyr1069Ter)
c.3228T>A (p.Tyr1076Ter)
n.3355T>A
c.2922T>A (p.Tyr974Ter)
c.3180T>A (p.Tyr1060Ter)
c.3075T>A (p.Tyr1025Ter)
c.3021T>A (p.Tyr1007Ter)
c.3099T>A (p.Tyr1033Ter)
c.2850T>A (p.Tyr950Ter)
c.3081T>A (p.Tyr1027Ter)
c.2007T>A (p.Tyr669Ter)
n.3062T>A
1g.151405829_151405830delCA658821140POGZc.3254_3255del (p.Tyr1085Ter)
c.3047_3048del (p.Tyr1016Ter)
c.3206_3207del (p.Tyr1069Ter)
c.3227_3228del (p.Tyr1076Ter)
n.3354_3355del
c.2921_2922del (p.Tyr974Ter)
c.3179_3180del (p.Tyr1060Ter)
c.3074_3075del (p.Tyr1025Ter)
c.3020_3021del (p.Tyr1007Ter)
c.3098_3099del (p.Tyr1033Ter)
c.2849_2850del (p.Tyr950Ter)
c.3080_3081del (p.Tyr1027Ter)
c.2006_2007del (p.Tyr669Ter)
n.3061_3062del
ClinVar dbSNP
1g.151405829T>ACA341944857POGZc.3254A>T (p.Tyr1085Phe)
c.3047A>T (p.Tyr1016Phe)
c.3206A>T (p.Tyr1069Phe)
c.3227A>T (p.Tyr1076Phe)
n.3354A>T
c.2921A>T (p.Tyr974Phe)
c.3179A>T (p.Tyr1060Phe)
c.3074A>T (p.Tyr1025Phe)
c.3020A>T (p.Tyr1007Phe)
c.3098A>T (p.Tyr1033Phe)
c.2849A>T (p.Tyr950Phe)
c.3080A>T (p.Tyr1027Phe)
c.2006A>T (p.Tyr669Phe)
n.3061A>T
1g.151405829T>CCA341944859POGZc.3254A>G (p.Tyr1085Cys)
c.3047A>G (p.Tyr1016Cys)
c.3206A>G (p.Tyr1069Cys)
c.3227A>G (p.Tyr1076Cys)
n.3354A>G
c.2921A>G (p.Tyr974Cys)
c.3179A>G (p.Tyr1060Cys)
c.3074A>G (p.Tyr1025Cys)
c.3020A>G (p.Tyr1007Cys)
c.3098A>G (p.Tyr1033Cys)
c.2849A>G (p.Tyr950Cys)
c.3080A>G (p.Tyr1027Cys)
c.2006A>G (p.Tyr669Cys)
n.3061A>G
gnomAD v4
1g.151405829T>GCA341944862POGZc.3254A>C (p.Tyr1085Ser)
c.3047A>C (p.Tyr1016Ser)
c.3206A>C (p.Tyr1069Ser)
c.3227A>C (p.Tyr1076Ser)
n.3354A>C
c.2921A>C (p.Tyr974Ser)
c.3179A>C (p.Tyr1060Ser)
c.3074A>C (p.Tyr1025Ser)
c.3020A>C (p.Tyr1007Ser)
c.3098A>C (p.Tyr1033Ser)
c.2849A>C (p.Tyr950Ser)
c.3080A>C (p.Tyr1027Ser)
c.2006A>C (p.Tyr669Ser)
n.3061A>C
1g.151405830A>CCA341944867POGZc.3253T>G (p.Tyr1085Asp)
c.3046T>G (p.Tyr1016Asp)
c.3205T>G (p.Tyr1069Asp)
c.3226T>G (p.Tyr1076Asp)
n.3353T>G
c.2920T>G (p.Tyr974Asp)
c.3178T>G (p.Tyr1060Asp)
c.3073T>G (p.Tyr1025Asp)
c.3019T>G (p.Tyr1007Asp)
c.3097T>G (p.Tyr1033Asp)
c.2848T>G (p.Tyr950Asp)
c.3079T>G (p.Tyr1027Asp)
c.2005T>G (p.Tyr669Asp)
n.3060T>G
1g.151405830A>GCA341944870POGZc.3253T>C (p.Tyr1085His)
c.3046T>C (p.Tyr1016His)
c.3205T>C (p.Tyr1069His)
c.3226T>C (p.Tyr1076His)
n.3353T>C
c.2920T>C (p.Tyr974His)
c.3178T>C (p.Tyr1060His)
c.3073T>C (p.Tyr1025His)
c.3019T>C (p.Tyr1007His)
c.3097T>C (p.Tyr1033His)
c.2848T>C (p.Tyr950His)
c.3079T>C (p.Tyr1027His)
c.2005T>C (p.Tyr669His)
n.3060T>C
1g.151405830A>TCA341944873POGZc.3253T>A (p.Tyr1085Asn)
c.3046T>A (p.Tyr1016Asn)
c.3205T>A (p.Tyr1069Asn)
c.3226T>A (p.Tyr1076Asn)
n.3353T>A
c.2920T>A (p.Tyr974Asn)
c.3178T>A (p.Tyr1060Asn)
c.3073T>A (p.Tyr1025Asn)
c.3019T>A (p.Tyr1007Asn)
c.3097T>A (p.Tyr1033Asn)
c.2848T>A (p.Tyr950Asn)
c.3079T>A (p.Tyr1027Asn)
c.2005T>A (p.Tyr669Asn)
n.3060T>A
1g.151405832_151405834delCA2647920373POGZc.3251_3253del (p.Ser1084del)
c.3044_3046del (p.Ser1015del)
c.3203_3205del (p.Ser1068del)
c.3224_3226del (p.Ser1075del)
n.3351_3353del
c.2918_2920del (p.Ser973del)
c.3176_3178del (p.Ser1059del)
c.3071_3073del (p.Ser1024del)
c.3017_3019del (p.Ser1006del)
c.3095_3097del (p.Ser1032del)
c.2846_2848del (p.Ser949del)
c.3077_3079del (p.Ser1026del)
c.2003_2005del (p.Ser668del)
n.3058_3060del
gnomAD v4
1g.151405831G>ACA1090999POGZc.3252C>T (p.Ser1084=)
c.3045C>T (p.Ser1015=)
c.3204C>T (p.Ser1068=)
c.3225C>T (p.Ser1075=)
n.3352C>T
c.2919C>T (p.Ser973=)
c.3177C>T (p.Ser1059=)
c.3072C>T (p.Ser1024=)
c.3018C>T (p.Ser1006=)
c.3096C>T (p.Ser1032=)
c.2847C>T (p.Ser949=)
c.3078C>T (p.Ser1026=)
c.2004C>T (p.Ser668=)
n.3059C>T
dbSNP ExAC gnomAD v2 gnomAD v4
1g.151405831G>CCA420909474POGZc.3252C>G (p.Ser1084=)
c.3045C>G (p.Ser1015=)
c.3204C>G (p.Ser1068=)
c.3225C>G (p.Ser1075=)
n.3352C>G
c.2919C>G (p.Ser973=)
c.3177C>G (p.Ser1059=)
c.3072C>G (p.Ser1024=)
c.3018C>G (p.Ser1006=)
c.3096C>G (p.Ser1032=)
c.2847C>G (p.Ser949=)
c.3078C>G (p.Ser1026=)
c.2004C>G (p.Ser668=)
n.3059C>G
gnomAD v4
1g.151405831G=CA2479570445POGZc.3252C= (p.Ser1084=)
c.3045C= (p.Ser1015=)
c.3204C= (p.Ser1068=)
c.3225C= (p.Ser1075=)
n.3352C=
c.2919C= (p.Ser973=)
c.3177C= (p.Ser1059=)
c.3072C= (p.Ser1024=)
c.3018C= (p.Ser1006=)
c.3096C= (p.Ser1032=)
c.2847C= (p.Ser949=)
c.3078C= (p.Ser1026=)
c.2004C= (p.Ser668=)
n.3059C=
1g.151405831G>TCA420909475POGZc.3252C>A (p.Ser1084=)
c.3045C>A (p.Ser1015=)
c.3204C>A (p.Ser1068=)
c.3225C>A (p.Ser1075=)
n.3352C>A
c.2919C>A (p.Ser973=)
c.3177C>A (p.Ser1059=)
c.3072C>A (p.Ser1024=)
c.3018C>A (p.Ser1006=)
c.3096C>A (p.Ser1032=)
c.2847C>A (p.Ser949=)
c.3078C>A (p.Ser1026=)
c.2004C>A (p.Ser668=)
n.3059C>A
1g.151405832G>ACA341944879POGZc.3251C>T (p.Ser1084Phe)
c.3044C>T (p.Ser1015Phe)
c.3203C>T (p.Ser1068Phe)
c.3224C>T (p.Ser1075Phe)
n.3351C>T
c.2918C>T (p.Ser973Phe)
c.3176C>T (p.Ser1059Phe)
c.3071C>T (p.Ser1024Phe)
c.3017C>T (p.Ser1006Phe)
c.3095C>T (p.Ser1032Phe)
c.2846C>T (p.Ser949Phe)
c.3077C>T (p.Ser1026Phe)
c.2003C>T (p.Ser668Phe)
n.3058C>T
1g.151405832G>CCA341944882POGZc.3251C>G (p.Ser1084Cys)
c.3044C>G (p.Ser1015Cys)
c.3203C>G (p.Ser1068Cys)
c.3224C>G (p.Ser1075Cys)
n.3351C>G
c.2918C>G (p.Ser973Cys)
c.3176C>G (p.Ser1059Cys)
c.3071C>G (p.Ser1024Cys)
c.3017C>G (p.Ser1006Cys)
c.3095C>G (p.Ser1032Cys)
c.2846C>G (p.Ser949Cys)
c.3077C>G (p.Ser1026Cys)
c.2003C>G (p.Ser668Cys)
n.3058C>G
1g.151405832G>TCA341944885POGZc.3251C>A (p.Ser1084Tyr)
c.3044C>A (p.Ser1015Tyr)
c.3203C>A (p.Ser1068Tyr)
c.3224C>A (p.Ser1075Tyr)
n.3351C>A
c.2918C>A (p.Ser973Tyr)
c.3176C>A (p.Ser1059Tyr)
c.3071C>A (p.Ser1024Tyr)
c.3017C>A (p.Ser1006Tyr)
c.3095C>A (p.Ser1032Tyr)
c.2846C>A (p.Ser949Tyr)
c.3077C>A (p.Ser1026Tyr)
c.2003C>A (p.Ser668Tyr)
n.3058C>A
1g.151405833A>CCA341944889POGZc.3250T>G (p.Ser1084Ala)
c.3043T>G (p.Ser1015Ala)
c.3202T>G (p.Ser1068Ala)
c.3223T>G (p.Ser1075Ala)
n.3350T>G
c.2917T>G (p.Ser973Ala)
c.3175T>G (p.Ser1059Ala)
c.3070T>G (p.Ser1024Ala)
c.3016T>G (p.Ser1006Ala)
c.3094T>G (p.Ser1032Ala)
c.2845T>G (p.Ser949Ala)
c.3076T>G (p.Ser1026Ala)
c.2002T>G (p.Ser668Ala)
n.3057T>G
1g.151405833A>GCA341944890POGZc.3250T>C (p.Ser1084Pro)
c.3043T>C (p.Ser1015Pro)
c.3202T>C (p.Ser1068Pro)
c.3223T>C (p.Ser1075Pro)
n.3350T>C
c.2917T>C (p.Ser973Pro)
c.3175T>C (p.Ser1059Pro)
c.3070T>C (p.Ser1024Pro)
c.3016T>C (p.Ser1006Pro)
c.3094T>C (p.Ser1032Pro)
c.2845T>C (p.Ser949Pro)
c.3076T>C (p.Ser1026Pro)
c.2002T>C (p.Ser668Pro)
n.3057T>C
1g.151405833A>TCA341944892POGZc.3250T>A (p.Ser1084Thr)
c.3043T>A (p.Ser1015Thr)
c.3202T>A (p.Ser1068Thr)
c.3223T>A (p.Ser1075Thr)
n.3350T>A
c.2917T>A (p.Ser973Thr)
c.3175T>A (p.Ser1059Thr)
c.3070T>A (p.Ser1024Thr)
c.3016T>A (p.Ser1006Thr)
c.3094T>A (p.Ser1032Thr)
c.2845T>A (p.Ser949Thr)
c.3076T>A (p.Ser1026Thr)
c.2002T>A (p.Ser668Thr)
n.3057T>A
1g.151405834G>ACA1091000POGZc.3249C>T (p.Ile1083=)
c.3042C>T (p.Ile1014=)
c.3201C>T (p.Ile1067=)
c.3222C>T (p.Ile1074=)
n.3349C>T
c.2916C>T (p.Ile972=)
c.3174C>T (p.Ile1058=)
c.3069C>T (p.Ile1023=)
c.3015C>T (p.Ile1005=)
c.3093C>T (p.Ile1031=)
c.2844C>T (p.Ile948=)
c.3075C>T (p.Ile1025=)
c.2001C>T (p.Ile667=)
n.3056C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.151405834G>CCA341944896POGZc.3249C>G (p.Ile1083Met)
c.3042C>G (p.Ile1014Met)
c.3201C>G (p.Ile1067Met)
c.3222C>G (p.Ile1074Met)
n.3349C>G
c.2916C>G (p.Ile972Met)
c.3174C>G (p.Ile1058Met)
c.3069C>G (p.Ile1023Met)
c.3015C>G (p.Ile1005Met)
c.3093C>G (p.Ile1031Met)
c.2844C>G (p.Ile948Met)
c.3075C>G (p.Ile1025Met)
c.2001C>G (p.Ile667Met)
n.3056C>G
1g.151405834G=CA1143629300POGZc.3249C= (p.Ile1083=)
c.3042C= (p.Ile1014=)
c.3201C= (p.Ile1067=)
c.3222C= (p.Ile1074=)
n.3349C=
c.2916C= (p.Ile972=)
c.3174C= (p.Ile1058=)
c.3069C= (p.Ile1023=)
c.3015C= (p.Ile1005=)
c.3093C= (p.Ile1031=)
c.2844C= (p.Ile948=)
c.3075C= (p.Ile1025=)
c.2001C= (p.Ile667=)
n.3056C=
1g.151405834G>TCA1091001POGZc.3249C>A (p.Ile1083=)
c.3042C>A (p.Ile1014=)
c.3201C>A (p.Ile1067=)
c.3222C>A (p.Ile1074=)
n.3349C>A
c.2916C>A (p.Ile972=)
c.3174C>A (p.Ile1058=)
c.3069C>A (p.Ile1023=)
c.3015C>A (p.Ile1005=)
c.3093C>A (p.Ile1031=)
c.2844C>A (p.Ile948=)
c.3075C>A (p.Ile1025=)
c.2001C>A (p.Ile667=)
n.3056C>A
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
1g.151405835A>CCA341944900POGZc.3248T>G (p.Ile1083Ser)
c.3041T>G (p.Ile1014Ser)
c.3200T>G (p.Ile1067Ser)
c.3221T>G (p.Ile1074Ser)
n.3348T>G
c.2915T>G (p.Ile972Ser)
c.3173T>G (p.Ile1058Ser)
c.3068T>G (p.Ile1023Ser)
c.3014T>G (p.Ile1005Ser)
c.3092T>G (p.Ile1031Ser)
c.2843T>G (p.Ile948Ser)
c.3074T>G (p.Ile1025Ser)
c.2000T>G (p.Ile667Ser)
n.3055T>G
1g.151405835A>GCA341944903POGZc.3248T>C (p.Ile1083Thr)
c.3041T>C (p.Ile1014Thr)
c.3200T>C (p.Ile1067Thr)
c.3221T>C (p.Ile1074Thr)
n.3348T>C
c.2915T>C (p.Ile972Thr)
c.3173T>C (p.Ile1058Thr)
c.3068T>C (p.Ile1023Thr)
c.3014T>C (p.Ile1005Thr)
c.3092T>C (p.Ile1031Thr)
c.2843T>C (p.Ile948Thr)
c.3074T>C (p.Ile1025Thr)
c.2000T>C (p.Ile667Thr)
n.3055T>C
1g.151405835A>TCA341944901POGZc.3248T>A (p.Ile1083Asn)
c.3041T>A (p.Ile1014Asn)
c.3200T>A (p.Ile1067Asn)
c.3221T>A (p.Ile1074Asn)
n.3348T>A
c.2915T>A (p.Ile972Asn)
c.3173T>A (p.Ile1058Asn)
c.3068T>A (p.Ile1023Asn)
c.3014T>A (p.Ile1005Asn)
c.3092T>A (p.Ile1031Asn)
c.2843T>A (p.Ile948Asn)
c.3074T>A (p.Ile1025Asn)
c.2000T>A (p.Ile667Asn)
n.3055T>A
1g.151405836T>ACA341944905POGZc.3247A>T (p.Ile1083Phe)
c.3040A>T (p.Ile1014Phe)
c.3199A>T (p.Ile1067Phe)
c.3220A>T (p.Ile1074Phe)
n.3347A>T
c.2914A>T (p.Ile972Phe)
c.3172A>T (p.Ile1058Phe)
c.3067A>T (p.Ile1023Phe)
c.3013A>T (p.Ile1005Phe)
c.3091A>T (p.Ile1031Phe)
c.2842A>T (p.Ile948Phe)
c.3073A>T (p.Ile1025Phe)
c.1999A>T (p.Ile667Phe)
n.3054A>T
1g.151405836T>CCA341944908POGZc.3247A>G (p.Ile1083Val)
c.3040A>G (p.Ile1014Val)
c.3199A>G (p.Ile1067Val)
c.3220A>G (p.Ile1074Val)
n.3347A>G
c.2914A>G (p.Ile972Val)
c.3172A>G (p.Ile1058Val)
c.3067A>G (p.Ile1023Val)
c.3013A>G (p.Ile1005Val)
c.3091A>G (p.Ile1031Val)
c.2842A>G (p.Ile948Val)
c.3073A>G (p.Ile1025Val)
c.1999A>G (p.Ile667Val)
n.3054A>G
1g.151405836T>GCA341944906POGZc.3247A>C (p.Ile1083Leu)
c.3040A>C (p.Ile1014Leu)
c.3199A>C (p.Ile1067Leu)
c.3220A>C (p.Ile1074Leu)
n.3347A>C
c.2914A>C (p.Ile972Leu)
c.3172A>C (p.Ile1058Leu)
c.3067A>C (p.Ile1023Leu)
c.3013A>C (p.Ile1005Leu)
c.3091A>C (p.Ile1031Leu)
c.2842A>C (p.Ile948Leu)
c.3073A>C (p.Ile1025Leu)
c.1999A>C (p.Ile667Leu)
n.3054A>C
1g.151405837C>ACA341944910POGZc.3246G>T (p.Lys1082Asn)
c.3039G>T (p.Lys1013Asn)
c.3198G>T (p.Lys1066Asn)
c.3219G>T (p.Lys1073Asn)
n.3346G>T
c.2913G>T (p.Lys971Asn)
c.3171G>T (p.Lys1057Asn)
c.3066G>T (p.Lys1022Asn)
c.3012G>T (p.Lys1004Asn)
c.3090G>T (p.Lys1030Asn)
c.2841G>T (p.Lys947Asn)
c.3072G>T (p.Lys1024Asn)
c.1998G>T (p.Lys666Asn)
n.3053G>T
1g.151405837C>GCA341944912POGZc.3246G>C (p.Lys1082Asn)
c.3039G>C (p.Lys1013Asn)
c.3198G>C (p.Lys1066Asn)
c.3219G>C (p.Lys1073Asn)
n.3346G>C
c.2913G>C (p.Lys971Asn)
c.3171G>C (p.Lys1057Asn)
c.3066G>C (p.Lys1022Asn)
c.3012G>C (p.Lys1004Asn)
c.3090G>C (p.Lys1030Asn)
c.2841G>C (p.Lys947Asn)
c.3072G>C (p.Lys1024Asn)
c.1998G>C (p.Lys666Asn)
n.3053G>C
1g.151405837C>TCA420909484POGZc.3246G>A (p.Lys1082=)
c.3039G>A (p.Lys1013=)
c.3198G>A (p.Lys1066=)
c.3219G>A (p.Lys1073=)
n.3346G>A
c.2913G>A (p.Lys971=)
c.3171G>A (p.Lys1057=)
c.3066G>A (p.Lys1022=)
c.3012G>A (p.Lys1004=)
c.3090G>A (p.Lys1030=)
c.2841G>A (p.Lys947=)
c.3072G>A (p.Lys1024=)
c.1998G>A (p.Lys666=)
n.3053G>A
gnomAD v4
1g.151405838T>ACA341944915POGZc.3245A>T (p.Lys1082Met)
c.3038A>T (p.Lys1013Met)
c.3197A>T (p.Lys1066Met)
c.3218A>T (p.Lys1073Met)
n.3345A>T
c.2912A>T (p.Lys971Met)
c.3170A>T (p.Lys1057Met)
c.3065A>T (p.Lys1022Met)
c.3011A>T (p.Lys1004Met)
c.3089A>T (p.Lys1030Met)
c.2840A>T (p.Lys947Met)
c.3071A>T (p.Lys1024Met)
c.1997A>T (p.Lys666Met)
n.3052A>T
1g.151405838T>CCA341944917POGZc.3245A>G (p.Lys1082Arg)
c.3038A>G (p.Lys1013Arg)
c.3197A>G (p.Lys1066Arg)
c.3218A>G (p.Lys1073Arg)
n.3345A>G
c.2912A>G (p.Lys971Arg)
c.3170A>G (p.Lys1057Arg)
c.3065A>G (p.Lys1022Arg)
c.3011A>G (p.Lys1004Arg)
c.3089A>G (p.Lys1030Arg)
c.2840A>G (p.Lys947Arg)
c.3071A>G (p.Lys1024Arg)
c.1997A>G (p.Lys666Arg)
n.3052A>G
1g.151405838T>GCA341944919POGZc.3245A>C (p.Lys1082Thr)
c.3038A>C (p.Lys1013Thr)
c.3197A>C (p.Lys1066Thr)
c.3218A>C (p.Lys1073Thr)
n.3345A>C
c.2912A>C (p.Lys971Thr)
c.3170A>C (p.Lys1057Thr)
c.3065A>C (p.Lys1022Thr)
c.3011A>C (p.Lys1004Thr)
c.3089A>C (p.Lys1030Thr)
c.2840A>C (p.Lys947Thr)
c.3071A>C (p.Lys1024Thr)
c.1997A>C (p.Lys666Thr)
n.3052A>C
1g.151405839T>ACA341944922POGZc.3244A>T (p.Lys1082Ter)
c.3037A>T (p.Lys1013Ter)
c.3196A>T (p.Lys1066Ter)
c.3217A>T (p.Lys1073Ter)
n.3344A>T
c.2911A>T (p.Lys971Ter)
c.3169A>T (p.Lys1057Ter)
c.3064A>T (p.Lys1022Ter)
c.3010A>T (p.Lys1004Ter)
c.3088A>T (p.Lys1030Ter)
c.2839A>T (p.Lys947Ter)
c.3070A>T (p.Lys1024Ter)
c.1996A>T (p.Lys666Ter)
n.3051A>T
ClinVar
1g.151405839T>CCA341944924POGZc.3244A>G (p.Lys1082Glu)
c.3037A>G (p.Lys1013Glu)
c.3196A>G (p.Lys1066Glu)
c.3217A>G (p.Lys1073Glu)
n.3344A>G
c.2911A>G (p.Lys971Glu)
c.3169A>G (p.Lys1057Glu)
c.3064A>G (p.Lys1022Glu)
c.3010A>G (p.Lys1004Glu)
c.3088A>G (p.Lys1030Glu)
c.2839A>G (p.Lys947Glu)
c.3070A>G (p.Lys1024Glu)
c.1996A>G (p.Lys666Glu)
n.3051A>G
1g.151405839T>GCA341944927POGZc.3244A>C (p.Lys1082Gln)
c.3037A>C (p.Lys1013Gln)
c.3196A>C (p.Lys1066Gln)
c.3217A>C (p.Lys1073Gln)
n.3344A>C
c.2911A>C (p.Lys971Gln)
c.3169A>C (p.Lys1057Gln)
c.3064A>C (p.Lys1022Gln)
c.3010A>C (p.Lys1004Gln)
c.3088A>C (p.Lys1030Gln)
c.2839A>C (p.Lys947Gln)
c.3070A>C (p.Lys1024Gln)
c.1996A>C (p.Lys666Gln)
n.3051A>C
1g.151405840A>CCA341944931POGZc.3243T>G (p.Phe1081Leu)
c.3036T>G (p.Phe1012Leu)
c.3195T>G (p.Phe1065Leu)
c.3216T>G (p.Phe1072Leu)
n.3343T>G
c.2910T>G (p.Phe970Leu)
c.3168T>G (p.Phe1056Leu)
c.3063T>G (p.Phe1021Leu)
c.3009T>G (p.Phe1003Leu)
c.3087T>G (p.Phe1029Leu)
c.2838T>G (p.Phe946Leu)
c.3069T>G (p.Phe1023Leu)
c.1995T>G (p.Phe665Leu)
n.3050T>G
1g.151405840A>GCA420909487POGZc.3243T>C (p.Phe1081=)
c.3036T>C (p.Phe1012=)
c.3195T>C (p.Phe1065=)
c.3216T>C (p.Phe1072=)
n.3343T>C
c.2910T>C (p.Phe970=)
c.3168T>C (p.Phe1056=)
c.3063T>C (p.Phe1021=)
c.3009T>C (p.Phe1003=)
c.3087T>C (p.Phe1029=)
c.2838T>C (p.Phe946=)
c.3069T>C (p.Phe1023=)
c.1995T>C (p.Phe665=)
n.3050T>C
1g.151405840A>TCA341944935POGZc.3243T>A (p.Phe1081Leu)
c.3036T>A (p.Phe1012Leu)
c.3195T>A (p.Phe1065Leu)
c.3216T>A (p.Phe1072Leu)
n.3343T>A
c.2910T>A (p.Phe970Leu)
c.3168T>A (p.Phe1056Leu)
c.3063T>A (p.Phe1021Leu)
c.3009T>A (p.Phe1003Leu)
c.3087T>A (p.Phe1029Leu)
c.2838T>A (p.Phe946Leu)
c.3069T>A (p.Phe1023Leu)
c.1995T>A (p.Phe665Leu)
n.3050T>A
1g.151405841A>CCA341944946POGZc.3242T>G (p.Phe1081Cys)
c.3035T>G (p.Phe1012Cys)
c.3194T>G (p.Phe1065Cys)
c.3215T>G (p.Phe1072Cys)
n.3342T>G
c.2909T>G (p.Phe970Cys)
c.3167T>G (p.Phe1056Cys)
c.3062T>G (p.Phe1021Cys)
c.3008T>G (p.Phe1003Cys)
c.3086T>G (p.Phe1029Cys)
c.2837T>G (p.Phe946Cys)
c.3068T>G (p.Phe1023Cys)
c.1994T>G (p.Phe665Cys)
n.3049T>G
1g.151405841A>GCA341944939POGZc.3242T>C (p.Phe1081Ser)
c.3035T>C (p.Phe1012Ser)
c.3194T>C (p.Phe1065Ser)
c.3215T>C (p.Phe1072Ser)
n.3342T>C
c.2909T>C (p.Phe970Ser)
c.3167T>C (p.Phe1056Ser)
c.3062T>C (p.Phe1021Ser)
c.3008T>C (p.Phe1003Ser)
c.3086T>C (p.Phe1029Ser)
c.2837T>C (p.Phe946Ser)
c.3068T>C (p.Phe1023Ser)
c.1994T>C (p.Phe665Ser)
n.3049T>C
1g.151405841A>TCA341944943POGZc.3242T>A (p.Phe1081Tyr)
c.3035T>A (p.Phe1012Tyr)
c.3194T>A (p.Phe1065Tyr)
c.3215T>A (p.Phe1072Tyr)
n.3342T>A
c.2909T>A (p.Phe970Tyr)
c.3167T>A (p.Phe1056Tyr)
c.3062T>A (p.Phe1021Tyr)
c.3008T>A (p.Phe1003Tyr)
c.3086T>A (p.Phe1029Tyr)
c.2837T>A (p.Phe946Tyr)
c.3068T>A (p.Phe1023Tyr)
c.1994T>A (p.Phe665Tyr)
n.3049T>A
1g.151405842A>CCA341944950POGZc.3241T>G (p.Phe1081Val)
c.3034T>G (p.Phe1012Val)
c.3193T>G (p.Phe1065Val)
c.3214T>G (p.Phe1072Val)
n.3341T>G
c.2908T>G (p.Phe970Val)
c.3166T>G (p.Phe1056Val)
c.3061T>G (p.Phe1021Val)
c.3007T>G (p.Phe1003Val)
c.3085T>G (p.Phe1029Val)
c.2836T>G (p.Phe946Val)
c.3067T>G (p.Phe1023Val)
c.1993T>G (p.Phe665Val)
n.3048T>G
1g.151405842A>GCA341944953POGZc.3241T>C (p.Phe1081Leu)
c.3034T>C (p.Phe1012Leu)
c.3193T>C (p.Phe1065Leu)
c.3214T>C (p.Phe1072Leu)
n.3341T>C
c.2908T>C (p.Phe970Leu)
c.3166T>C (p.Phe1056Leu)
c.3061T>C (p.Phe1021Leu)
c.3007T>C (p.Phe1003Leu)
c.3085T>C (p.Phe1029Leu)
c.2836T>C (p.Phe946Leu)
c.3067T>C (p.Phe1023Leu)
c.1993T>C (p.Phe665Leu)
n.3048T>C
1g.151405842A>TCA341944956POGZc.3241T>A (p.Phe1081Ile)
c.3034T>A (p.Phe1012Ile)
c.3193T>A (p.Phe1065Ile)
c.3214T>A (p.Phe1072Ile)
n.3341T>A
c.2908T>A (p.Phe970Ile)
c.3166T>A (p.Phe1056Ile)
c.3061T>A (p.Phe1021Ile)
c.3007T>A (p.Phe1003Ile)
c.3085T>A (p.Phe1029Ile)
c.2836T>A (p.Phe946Ile)
c.3067T>A (p.Phe1023Ile)
c.1993T>A (p.Phe665Ile)
n.3048T>A
1g.151405843C>ACA420909491POGZc.3240G>T (p.Gly1080=)
c.3033G>T (p.Gly1011=)
c.3192G>T (p.Gly1064=)
c.3213G>T (p.Gly1071=)
n.3340G>T
c.2907G>T (p.Gly969=)
c.3165G>T (p.Gly1055=)
c.3060G>T (p.Gly1020=)
c.3006G>T (p.Gly1002=)
c.3084G>T (p.Gly1028=)
c.2835G>T (p.Gly945=)
c.3066G>T (p.Gly1022=)
c.1992G>T (p.Gly664=)
n.3047G>T
dbSNP gnomAD v4
1g.151405843C=CA2479570446POGZc.3240G= (p.Gly1080=)
c.3033G= (p.Gly1011=)
c.3192G= (p.Gly1064=)
c.3213G= (p.Gly1071=)
n.3340G=
c.2907G= (p.Gly969=)
c.3165G= (p.Gly1055=)
c.3060G= (p.Gly1020=)
c.3006G= (p.Gly1002=)
c.3084G= (p.Gly1028=)
c.2835G= (p.Gly945=)
c.3066G= (p.Gly1022=)
c.1992G= (p.Gly664=)
n.3047G=
1g.151405843C>GCA420909492POGZc.3240G>C (p.Gly1080=)
c.3033G>C (p.Gly1011=)
c.3192G>C (p.Gly1064=)
c.3213G>C (p.Gly1071=)
n.3340G>C
c.2907G>C (p.Gly969=)
c.3165G>C (p.Gly1055=)
c.3060G>C (p.Gly1020=)
c.3006G>C (p.Gly1002=)
c.3084G>C (p.Gly1028=)
c.2835G>C (p.Gly945=)
c.3066G>C (p.Gly1022=)
c.1992G>C (p.Gly664=)
n.3047G>C
1g.151405843C>TCA1091002POGZc.3240G>A (p.Gly1080=)
c.3033G>A (p.Gly1011=)
c.3192G>A (p.Gly1064=)
c.3213G>A (p.Gly1071=)
n.3340G>A
c.2907G>A (p.Gly969=)
c.3165G>A (p.Gly1055=)
c.3060G>A (p.Gly1020=)
c.3006G>A (p.Gly1002=)
c.3084G>A (p.Gly1028=)
c.2835G>A (p.Gly945=)
c.3066G>A (p.Gly1022=)
c.1992G>A (p.Gly664=)
n.3047G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.151405848delCA420909495POGZc.3240del (p.Phe1081LeufsTer17)
c.3033del (p.Phe1012LeufsTer17)
c.3192del (p.Phe1065LeufsTer17)
c.3213del (p.Phe1072LeufsTer17)
n.3340del
c.2907del (p.Phe970LeufsTer17)
c.3165del (p.Phe1056LeufsTer17)
c.3060del (p.Phe1021LeufsTer17)
c.3006del (p.Phe1003LeufsTer17)
c.3084del (p.Phe1029LeufsTer17)
c.2835del (p.Phe946LeufsTer17)
c.3066del (p.Phe1023LeufsTer17)
c.1992del (p.Phe665LeufsTer17)
n.3047del
COSMIC COSMIC
1g.151405844C>ACA341944963POGZc.3239G>T (p.Gly1080Val)
c.3032G>T (p.Gly1011Val)
c.3191G>T (p.Gly1064Val)
c.3212G>T (p.Gly1071Val)
n.3339G>T
c.2906G>T (p.Gly969Val)
c.3164G>T (p.Gly1055Val)
c.3059G>T (p.Gly1020Val)
c.3005G>T (p.Gly1002Val)
c.3083G>T (p.Gly1028Val)
c.2834G>T (p.Gly945Val)
c.3065G>T (p.Gly1022Val)
c.1991G>T (p.Gly664Val)
n.3046G>T
1g.151405844C>GCA341944967POGZc.3239G>C (p.Gly1080Ala)
c.3032G>C (p.Gly1011Ala)
c.3191G>C (p.Gly1064Ala)
c.3212G>C (p.Gly1071Ala)
n.3339G>C
c.2906G>C (p.Gly969Ala)
c.3164G>C (p.Gly1055Ala)
c.3059G>C (p.Gly1020Ala)
c.3005G>C (p.Gly1002Ala)
c.3083G>C (p.Gly1028Ala)
c.2834G>C (p.Gly945Ala)
c.3065G>C (p.Gly1022Ala)
c.1991G>C (p.Gly664Ala)
n.3046G>C
1g.151405844C>TCA341944970POGZc.3239G>A (p.Gly1080Glu)
c.3032G>A (p.Gly1011Glu)
c.3191G>A (p.Gly1064Glu)
c.3212G>A (p.Gly1071Glu)
n.3339G>A
c.2906G>A (p.Gly969Glu)
c.3164G>A (p.Gly1055Glu)
c.3059G>A (p.Gly1020Glu)
c.3005G>A (p.Gly1002Glu)
c.3083G>A (p.Gly1028Glu)
c.2834G>A (p.Gly945Glu)
c.3065G>A (p.Gly1022Glu)
c.1991G>A (p.Gly664Glu)
n.3046G>A
COSMIC COSMIC
1g.151405845C>ACA341944974POGZc.3238G>T (p.Gly1080Trp)
c.3031G>T (p.Gly1011Trp)
c.3190G>T (p.Gly1064Trp)
c.3211G>T (p.Gly1071Trp)
n.3338G>T
c.2905G>T (p.Gly969Trp)
c.3163G>T (p.Gly1055Trp)
c.3058G>T (p.Gly1020Trp)
c.3004G>T (p.Gly1002Trp)
c.3082G>T (p.Gly1028Trp)
c.2833G>T (p.Gly945Trp)
c.3064G>T (p.Gly1022Trp)
c.1990G>T (p.Gly664Trp)
n.3045G>T
1g.151405845C>GCA341944978POGZc.3238G>C (p.Gly1080Arg)
c.3031G>C (p.Gly1011Arg)
c.3190G>C (p.Gly1064Arg)
c.3211G>C (p.Gly1071Arg)
n.3338G>C
c.2905G>C (p.Gly969Arg)
c.3163G>C (p.Gly1055Arg)
c.3058G>C (p.Gly1020Arg)
c.3004G>C (p.Gly1002Arg)
c.3082G>C (p.Gly1028Arg)
c.2833G>C (p.Gly945Arg)
c.3064G>C (p.Gly1022Arg)
c.1990G>C (p.Gly664Arg)
n.3045G>C
1g.151405845C>TCA341944981POGZc.3238G>A (p.Gly1080Arg)
c.3031G>A (p.Gly1011Arg)
c.3190G>A (p.Gly1064Arg)
c.3211G>A (p.Gly1071Arg)
n.3338G>A
c.2905G>A (p.Gly969Arg)
c.3163G>A (p.Gly1055Arg)
c.3058G>A (p.Gly1020Arg)
c.3004G>A (p.Gly1002Arg)
c.3082G>A (p.Gly1028Arg)
c.2833G>A (p.Gly945Arg)
c.3064G>A (p.Gly1022Arg)
c.1990G>A (p.Gly664Arg)
n.3045G>A
1g.151405846C>ACA420909497POGZc.3237G>T (p.Gly1079=)
c.3030G>T (p.Gly1010=)
c.3189G>T (p.Gly1063=)
c.3210G>T (p.Gly1070=)
n.3337G>T
c.2904G>T (p.Gly968=)
c.3162G>T (p.Gly1054=)
c.3057G>T (p.Gly1019=)
c.3003G>T (p.Gly1001=)
c.3081G>T (p.Gly1027=)
c.2832G>T (p.Gly944=)
c.3063G>T (p.Gly1021=)
c.1989G>T (p.Gly663=)
n.3044G>T
1g.151405846C>GCA420909498POGZc.3237G>C (p.Gly1079=)
c.3030G>C (p.Gly1010=)
c.3189G>C (p.Gly1063=)
c.3210G>C (p.Gly1070=)
n.3337G>C
c.2904G>C (p.Gly968=)
c.3162G>C (p.Gly1054=)
c.3057G>C (p.Gly1019=)
c.3003G>C (p.Gly1001=)
c.3081G>C (p.Gly1027=)
c.2832G>C (p.Gly944=)
c.3063G>C (p.Gly1021=)
c.1989G>C (p.Gly663=)
n.3044G>C
1g.151405846C>TCA420909499POGZc.3237G>A (p.Gly1079=)
c.3030G>A (p.Gly1010=)
c.3189G>A (p.Gly1063=)
c.3210G>A (p.Gly1070=)
n.3337G>A
c.2904G>A (p.Gly968=)
c.3162G>A (p.Gly1054=)
c.3057G>A (p.Gly1019=)
c.3003G>A (p.Gly1001=)
c.3081G>A (p.Gly1027=)
c.2832G>A (p.Gly944=)
c.3063G>A (p.Gly1021=)
c.1989G>A (p.Gly663=)
n.3044G>A
gnomAD v4
1g.151405847C>ACA341944985POGZc.3236G>T (p.Gly1079Val)
c.3029G>T (p.Gly1010Val)
c.3188G>T (p.Gly1063Val)
c.3209G>T (p.Gly1070Val)
n.3336G>T
c.2903G>T (p.Gly968Val)
c.3161G>T (p.Gly1054Val)
c.3056G>T (p.Gly1019Val)
c.3002G>T (p.Gly1001Val)
c.3080G>T (p.Gly1027Val)
c.2831G>T (p.Gly944Val)
c.3062G>T (p.Gly1021Val)
c.1988G>T (p.Gly663Val)
n.3043G>T
1g.151405847C>GCA341944987POGZc.3236G>C (p.Gly1079Ala)
c.3029G>C (p.Gly1010Ala)
c.3188G>C (p.Gly1063Ala)
c.3209G>C (p.Gly1070Ala)
n.3336G>C
c.2903G>C (p.Gly968Ala)
c.3161G>C (p.Gly1054Ala)
c.3056G>C (p.Gly1019Ala)
c.3002G>C (p.Gly1001Ala)
c.3080G>C (p.Gly1027Ala)
c.2831G>C (p.Gly944Ala)
c.3062G>C (p.Gly1021Ala)
c.1988G>C (p.Gly663Ala)
n.3043G>C
1g.151405847C>TCA341944983POGZc.3236G>A (p.Gly1079Glu)
c.3029G>A (p.Gly1010Glu)
c.3188G>A (p.Gly1063Glu)
c.3209G>A (p.Gly1070Glu)
n.3336G>A
c.2903G>A (p.Gly968Glu)
c.3161G>A (p.Gly1054Glu)
c.3056G>A (p.Gly1019Glu)
c.3002G>A (p.Gly1001Glu)
c.3080G>A (p.Gly1027Glu)
c.2831G>A (p.Gly944Glu)
c.3062G>A (p.Gly1021Glu)
c.1988G>A (p.Gly663Glu)
n.3043G>A
gnomAD v4
1g.151405848C>ACA341944992POGZc.3235G>T (p.Gly1079Trp)
c.3028G>T (p.Gly1010Trp)
c.3187G>T (p.Gly1063Trp)
c.3208G>T (p.Gly1070Trp)
n.3335G>T
c.2902G>T (p.Gly968Trp)
c.3160G>T (p.Gly1054Trp)
c.3055G>T (p.Gly1019Trp)
c.3001G>T (p.Gly1001Trp)
c.3079G>T (p.Gly1027Trp)
c.2830G>T (p.Gly944Trp)
c.3061G>T (p.Gly1021Trp)
c.1987G>T (p.Gly663Trp)
n.3042G>T
1g.151405848C>GCA341944995POGZc.3235G>C (p.Gly1079Arg)
c.3028G>C (p.Gly1010Arg)
c.3187G>C (p.Gly1063Arg)
c.3208G>C (p.Gly1070Arg)
n.3335G>C
c.2902G>C (p.Gly968Arg)
c.3160G>C (p.Gly1054Arg)
c.3055G>C (p.Gly1019Arg)
c.3001G>C (p.Gly1001Arg)
c.3079G>C (p.Gly1027Arg)
c.2830G>C (p.Gly944Arg)
c.3061G>C (p.Gly1021Arg)
c.1987G>C (p.Gly663Arg)
n.3042G>C
1g.151405848C>TCA341944997POGZc.3235G>A (p.Gly1079Arg)
c.3028G>A (p.Gly1010Arg)
c.3187G>A (p.Gly1063Arg)
c.3208G>A (p.Gly1070Arg)
n.3335G>A
c.2902G>A (p.Gly968Arg)
c.3160G>A (p.Gly1054Arg)
c.3055G>A (p.Gly1019Arg)
c.3001G>A (p.Gly1001Arg)
c.3079G>A (p.Gly1027Arg)
c.2830G>A (p.Gly944Arg)
c.3061G>A (p.Gly1021Arg)
c.1987G>A (p.Gly663Arg)
n.3042G>A
gnomAD v4
1g.151405849T>ACA341945002POGZc.3234A>T (p.Glu1078Asp)
c.3027A>T (p.Glu1009Asp)
c.3186A>T (p.Glu1062Asp)
c.3207A>T (p.Glu1069Asp)
n.3334A>T
c.2901A>T (p.Glu967Asp)
c.3159A>T (p.Glu1053Asp)
c.3054A>T (p.Glu1018Asp)
c.3000A>T (p.Glu1000Asp)
c.3078A>T (p.Glu1026Asp)
c.2829A>T (p.Glu943Asp)
c.3060A>T (p.Glu1020Asp)
c.1986A>T (p.Glu662Asp)
n.3041A>T
1g.151405849T>CCA420909501POGZc.3234A>G (p.Glu1078=)
c.3027A>G (p.Glu1009=)
c.3186A>G (p.Glu1062=)
c.3207A>G (p.Glu1069=)
n.3334A>G
c.2901A>G (p.Glu967=)
c.3159A>G (p.Glu1053=)
c.3054A>G (p.Glu1018=)
c.3000A>G (p.Glu1000=)
c.3078A>G (p.Glu1026=)
c.2829A>G (p.Glu943=)
c.3060A>G (p.Glu1020=)
c.1986A>G (p.Glu662=)
n.3041A>G
1g.151405849T>GCA341945005POGZc.3234A>C (p.Glu1078Asp)
c.3027A>C (p.Glu1009Asp)
c.3186A>C (p.Glu1062Asp)
c.3207A>C (p.Glu1069Asp)
n.3334A>C
c.2901A>C (p.Glu967Asp)
c.3159A>C (p.Glu1053Asp)
c.3054A>C (p.Glu1018Asp)
c.3000A>C (p.Glu1000Asp)
c.3078A>C (p.Glu1026Asp)
c.2829A>C (p.Glu943Asp)
c.3060A>C (p.Glu1020Asp)
c.1986A>C (p.Glu662Asp)
n.3041A>C
1g.151405850T>ACA341945015POGZc.3233A>T (p.Glu1078Val)
c.3026A>T (p.Glu1009Val)
c.3185A>T (p.Glu1062Val)
c.3206A>T (p.Glu1069Val)
n.3333A>T
c.2900A>T (p.Glu967Val)
c.3158A>T (p.Glu1053Val)
c.3053A>T (p.Glu1018Val)
c.2999A>T (p.Glu1000Val)
c.3077A>T (p.Glu1026Val)
c.2828A>T (p.Glu943Val)
c.3059A>T (p.Glu1020Val)
c.1985A>T (p.Glu662Val)
n.3040A>T
1g.151405850T>CCA341945009POGZc.3233A>G (p.Glu1078Gly)
c.3026A>G (p.Glu1009Gly)
c.3185A>G (p.Glu1062Gly)
c.3206A>G (p.Glu1069Gly)
n.3333A>G
c.2900A>G (p.Glu967Gly)
c.3158A>G (p.Glu1053Gly)
c.3053A>G (p.Glu1018Gly)
c.2999A>G (p.Glu1000Gly)
c.3077A>G (p.Glu1026Gly)
c.2828A>G (p.Glu943Gly)
c.3059A>G (p.Glu1020Gly)
c.1985A>G (p.Glu662Gly)
n.3040A>G
1g.151405850T>GCA341945012POGZc.3233A>C (p.Glu1078Ala)
c.3026A>C (p.Glu1009Ala)
c.3185A>C (p.Glu1062Ala)
c.3206A>C (p.Glu1069Ala)
n.3333A>C
c.2900A>C (p.Glu967Ala)
c.3158A>C (p.Glu1053Ala)
c.3053A>C (p.Glu1018Ala)
c.2999A>C (p.Glu1000Ala)
c.3077A>C (p.Glu1026Ala)
c.2828A>C (p.Glu943Ala)
c.3059A>C (p.Glu1020Ala)
c.1985A>C (p.Glu662Ala)
n.3040A>C
1g.151405851C>ACA341945019POGZc.3232G>T (p.Glu1078Ter)
c.3025G>T (p.Glu1009Ter)
c.3184G>T (p.Glu1062Ter)
c.3205G>T (p.Glu1069Ter)
n.3332G>T
c.2899G>T (p.Glu967Ter)
c.3157G>T (p.Glu1053Ter)
c.3052G>T (p.Glu1018Ter)
c.2998G>T (p.Glu1000Ter)
c.3076G>T (p.Glu1026Ter)
c.2827G>T (p.Glu943Ter)
c.3058G>T (p.Glu1020Ter)
c.1984G>T (p.Glu662Ter)
n.3039G>T
1g.151405851C>GCA341945022POGZc.3232G>C (p.Glu1078Gln)
c.3025G>C (p.Glu1009Gln)
c.3184G>C (p.Glu1062Gln)
c.3205G>C (p.Glu1069Gln)
n.3332G>C
c.2899G>C (p.Glu967Gln)
c.3157G>C (p.Glu1053Gln)
c.3052G>C (p.Glu1018Gln)
c.2998G>C (p.Glu1000Gln)
c.3076G>C (p.Glu1026Gln)
c.2827G>C (p.Glu943Gln)
c.3058G>C (p.Glu1020Gln)
c.1984G>C (p.Glu662Gln)
n.3039G>C
1g.151405851C>TCA341945025POGZc.3232G>A (p.Glu1078Lys)
c.3025G>A (p.Glu1009Lys)
c.3184G>A (p.Glu1062Lys)
c.3205G>A (p.Glu1069Lys)
n.3332G>A
c.2899G>A (p.Glu967Lys)
c.3157G>A (p.Glu1053Lys)
c.3052G>A (p.Glu1018Lys)
c.2998G>A (p.Glu1000Lys)
c.3076G>A (p.Glu1026Lys)
c.2827G>A (p.Glu943Lys)
c.3058G>A (p.Glu1020Lys)
c.1984G>A (p.Glu662Lys)
n.3039G>A
1g.151405852C>ACA341945027POGZc.3231G>T (p.Leu1077Phe)
c.3024G>T (p.Leu1008Phe)
c.3183G>T (p.Leu1061Phe)
c.3204G>T (p.Leu1068Phe)
n.3331G>T
c.2898G>T (p.Leu966Phe)
c.3156G>T (p.Leu1052Phe)
c.3051G>T (p.Leu1017Phe)
c.2997G>T (p.Leu999Phe)
c.3075G>T (p.Leu1025Phe)
c.2826G>T (p.Leu942Phe)
c.3057G>T (p.Leu1019Phe)
c.1983G>T (p.Leu661Phe)
n.3038G>T
1g.151405852C>GCA341945029POGZc.3231G>C (p.Leu1077Phe)
c.3024G>C (p.Leu1008Phe)
c.3183G>C (p.Leu1061Phe)
c.3204G>C (p.Leu1068Phe)
n.3331G>C
c.2898G>C (p.Leu966Phe)
c.3156G>C (p.Leu1052Phe)
c.3051G>C (p.Leu1017Phe)
c.2997G>C (p.Leu999Phe)
c.3075G>C (p.Leu1025Phe)
c.2826G>C (p.Leu942Phe)
c.3057G>C (p.Leu1019Phe)
c.1983G>C (p.Leu661Phe)
n.3038G>C
1g.151405852C>TCA420909502POGZc.3231G>A (p.Leu1077=)
c.3024G>A (p.Leu1008=)
c.3183G>A (p.Leu1061=)
c.3204G>A (p.Leu1068=)
n.3331G>A
c.2898G>A (p.Leu966=)
c.3156G>A (p.Leu1052=)
c.3051G>A (p.Leu1017=)
c.2997G>A (p.Leu999=)
c.3075G>A (p.Leu1025=)
c.2826G>A (p.Leu942=)
c.3057G>A (p.Leu1019=)
c.1983G>A (p.Leu661=)
n.3038G>A
1g.151405853A>CCA341945033POGZc.3230T>G (p.Leu1077Trp)
c.3023T>G (p.Leu1008Trp)
c.3182T>G (p.Leu1061Trp)
c.3203T>G (p.Leu1068Trp)
n.3330T>G
c.2897T>G (p.Leu966Trp)
c.3155T>G (p.Leu1052Trp)
c.3050T>G (p.Leu1017Trp)
c.2996T>G (p.Leu999Trp)
c.3074T>G (p.Leu1025Trp)
c.2825T>G (p.Leu942Trp)
c.3056T>G (p.Leu1019Trp)
c.1982T>G (p.Leu661Trp)
n.3037T>G
1g.151405853A>GCA341945036POGZc.3230T>C (p.Leu1077Ser)
c.3023T>C (p.Leu1008Ser)
c.3182T>C (p.Leu1061Ser)
c.3203T>C (p.Leu1068Ser)
n.3330T>C
c.2897T>C (p.Leu966Ser)
c.3155T>C (p.Leu1052Ser)
c.3050T>C (p.Leu1017Ser)
c.2996T>C (p.Leu999Ser)
c.3074T>C (p.Leu1025Ser)
c.2825T>C (p.Leu942Ser)
c.3056T>C (p.Leu1019Ser)
c.1982T>C (p.Leu661Ser)
n.3037T>C
1g.151405853A>TCA341945034POGZc.3230T>A (p.Leu1077Ter)
c.3023T>A (p.Leu1008Ter)
c.3182T>A (p.Leu1061Ter)
c.3203T>A (p.Leu1068Ter)
n.3330T>A
c.2897T>A (p.Leu966Ter)
c.3155T>A (p.Leu1052Ter)
c.3050T>A (p.Leu1017Ter)
c.2996T>A (p.Leu999Ter)
c.3074T>A (p.Leu1025Ter)
c.2825T>A (p.Leu942Ter)
c.3056T>A (p.Leu1019Ter)
c.1982T>A (p.Leu661Ter)
n.3037T>A
1g.151405854A>CCA341945039POGZc.3229T>G (p.Leu1077Val)
c.3022T>G (p.Leu1008Val)
c.3181T>G (p.Leu1061Val)
c.3202T>G (p.Leu1068Val)
n.3329T>G
c.2896T>G (p.Leu966Val)
c.3154T>G (p.Leu1052Val)
c.3049T>G (p.Leu1017Val)
c.2995T>G (p.Leu999Val)
c.3073T>G (p.Leu1025Val)
c.2824T>G (p.Leu942Val)
c.3055T>G (p.Leu1019Val)
c.1981T>G (p.Leu661Val)
n.3036T>G
1g.151405854A>GCA420909505POGZc.3229T>C (p.Leu1077=)
c.3022T>C (p.Leu1008=)
c.3181T>C (p.Leu1061=)
c.3202T>C (p.Leu1068=)
n.3329T>C
c.2896T>C (p.Leu966=)
c.3154T>C (p.Leu1052=)
c.3049T>C (p.Leu1017=)
c.2995T>C (p.Leu999=)
c.3073T>C (p.Leu1025=)
c.2824T>C (p.Leu942=)
c.3055T>C (p.Leu1019=)
c.1981T>C (p.Leu661=)
n.3036T>C
1g.151405854A>TCA341945043POGZc.3229T>A (p.Leu1077Met)
c.3022T>A (p.Leu1008Met)
c.3181T>A (p.Leu1061Met)
c.3202T>A (p.Leu1068Met)
n.3329T>A
c.2896T>A (p.Leu966Met)
c.3154T>A (p.Leu1052Met)
c.3049T>A (p.Leu1017Met)
c.2995T>A (p.Leu999Met)
c.3073T>A (p.Leu1025Met)
c.2824T>A (p.Leu942Met)
c.3055T>A (p.Leu1019Met)
c.1981T>A (p.Leu661Met)
n.3036T>A
1g.151405854_151405856delinsAAGCA2479570447POGZc.3227_3229delinsCTT (p.Ser1076=)
c.3020_3022delinsCTT (p.Ser1007=)
c.3179_3181delinsCTT (p.Ser1060=)
c.3200_3202delinsCTT (p.Ser1067=)
n.3327_3329delinsCTT
c.2894_2896delinsCTT (p.Ser965=)
c.3152_3154delinsCTT (p.Ser1051=)
c.3047_3049delinsCTT (p.Ser1016=)
c.2993_2995delinsCTT (p.Ser998=)
c.3071_3073delinsCTT (p.Ser1024=)
c.2822_2824delinsCTT (p.Ser941=)
c.3053_3055delinsCTT (p.Ser1018=)
c.1979_1981delinsCTT (p.Ser660=)
n.3034_3036delinsCTT
1g.151405855A>CCA420909506POGZc.3228T>G (p.Ser1076=)
c.3021T>G (p.Ser1007=)
c.3180T>G (p.Ser1060=)
c.3201T>G (p.Ser1067=)
n.3328T>G
c.2895T>G (p.Ser965=)
c.3153T>G (p.Ser1051=)
c.3048T>G (p.Ser1016=)
c.2994T>G (p.Ser998=)
c.3072T>G (p.Ser1024=)
c.2823T>G (p.Ser941=)
c.3054T>G (p.Ser1018=)
c.1980T>G (p.Ser660=)
n.3035T>G
1g.151405855A>GCA420909507POGZc.3228T>C (p.Ser1076=)
c.3021T>C (p.Ser1007=)
c.3180T>C (p.Ser1060=)
c.3201T>C (p.Ser1067=)
n.3328T>C
c.2895T>C (p.Ser965=)
c.3153T>C (p.Ser1051=)
c.3048T>C (p.Ser1016=)
c.2994T>C (p.Ser998=)
c.3072T>C (p.Ser1024=)
c.2823T>C (p.Ser941=)
c.3054T>C (p.Ser1018=)
c.1980T>C (p.Ser660=)
n.3035T>C
1g.151405855A>TCA420909508POGZc.3228T>A (p.Ser1076=)
c.3021T>A (p.Ser1007=)
c.3180T>A (p.Ser1060=)
c.3201T>A (p.Ser1067=)
n.3328T>A
c.2895T>A (p.Ser965=)
c.3153T>A (p.Ser1051=)
c.3048T>A (p.Ser1016=)
c.2994T>A (p.Ser998=)
c.3072T>A (p.Ser1024=)
c.2823T>A (p.Ser941=)
c.3054T>A (p.Ser1018=)
c.1980T>A (p.Ser660=)
n.3035T>A
1g.151405856_151405857delCA1139656322POGZc.3227_3228del (p.Ser1076PhefsTer6)
c.3020_3021del (p.Ser1007PhefsTer6)
c.3179_3180del (p.Ser1060PhefsTer6)
c.3200_3201del (p.Ser1067PhefsTer6)
n.3327_3328del
c.2894_2895del (p.Ser965PhefsTer6)
c.3152_3153del (p.Ser1051PhefsTer6)
c.3047_3048del (p.Ser1016PhefsTer6)
c.2993_2994del (p.Ser998PhefsTer6)
c.3071_3072del (p.Ser1024PhefsTer6)
c.2822_2823del (p.Ser941PhefsTer6)
c.3053_3054del (p.Ser1018PhefsTer6)
c.1979_1980del (p.Ser660PhefsTer6)
n.3034_3035del
ClinVar dbSNP
1g.151405856G>ACA341945049POGZc.3227C>T (p.Ser1076Phe)
c.3020C>T (p.Ser1007Phe)
c.3179C>T (p.Ser1060Phe)
c.3200C>T (p.Ser1067Phe)
n.3327C>T
c.2894C>T (p.Ser965Phe)
c.3152C>T (p.Ser1051Phe)
c.3047C>T (p.Ser1016Phe)
c.2993C>T (p.Ser998Phe)
c.3071C>T (p.Ser1024Phe)
c.2822C>T (p.Ser941Phe)
c.3053C>T (p.Ser1018Phe)
c.1979C>T (p.Ser660Phe)
n.3034C>T
1g.151405856G>CCA341945052POGZc.3227C>G (p.Ser1076Cys)
c.3020C>G (p.Ser1007Cys)
c.3179C>G (p.Ser1060Cys)
c.3200C>G (p.Ser1067Cys)
n.3327C>G
c.2894C>G (p.Ser965Cys)
c.3152C>G (p.Ser1051Cys)
c.3047C>G (p.Ser1016Cys)
c.2993C>G (p.Ser998Cys)
c.3071C>G (p.Ser1024Cys)
c.2822C>G (p.Ser941Cys)
c.3053C>G (p.Ser1018Cys)
c.1979C>G (p.Ser660Cys)
n.3034C>G
1g.151405856G>TCA341945056POGZc.3227C>A (p.Ser1076Tyr)
c.3020C>A (p.Ser1007Tyr)
c.3179C>A (p.Ser1060Tyr)
c.3200C>A (p.Ser1067Tyr)
n.3327C>A
c.2894C>A (p.Ser965Tyr)
c.3152C>A (p.Ser1051Tyr)
c.3047C>A (p.Ser1016Tyr)
c.2993C>A (p.Ser998Tyr)
c.3071C>A (p.Ser1024Tyr)
c.2822C>A (p.Ser941Tyr)
c.3053C>A (p.Ser1018Tyr)
c.1979C>A (p.Ser660Tyr)
n.3034C>A
1g.151405857A>CCA341945060POGZc.3226T>G (p.Ser1076Ala)
c.3019T>G (p.Ser1007Ala)
c.3178T>G (p.Ser1060Ala)
c.3199T>G (p.Ser1067Ala)
n.3326T>G
c.2893T>G (p.Ser965Ala)
c.3151T>G (p.Ser1051Ala)
c.3046T>G (p.Ser1016Ala)
c.2992T>G (p.Ser998Ala)
c.3070T>G (p.Ser1024Ala)
c.2821T>G (p.Ser941Ala)
c.3052T>G (p.Ser1018Ala)
c.1978T>G (p.Ser660Ala)
n.3033T>G
1g.151405857A>GCA341945061POGZc.3226T>C (p.Ser1076Pro)
c.3019T>C (p.Ser1007Pro)
c.3178T>C (p.Ser1060Pro)
c.3199T>C (p.Ser1067Pro)
n.3326T>C
c.2893T>C (p.Ser965Pro)
c.3151T>C (p.Ser1051Pro)
c.3046T>C (p.Ser1016Pro)
c.2992T>C (p.Ser998Pro)
c.3070T>C (p.Ser1024Pro)
c.2821T>C (p.Ser941Pro)
c.3052T>C (p.Ser1018Pro)
c.1978T>C (p.Ser660Pro)
n.3033T>C
1g.151405857A>TCA341945065POGZc.3226T>A (p.Ser1076Thr)
c.3019T>A (p.Ser1007Thr)
c.3178T>A (p.Ser1060Thr)
c.3199T>A (p.Ser1067Thr)
n.3326T>A
c.2893T>A (p.Ser965Thr)
c.3151T>A (p.Ser1051Thr)
c.3046T>A (p.Ser1016Thr)
c.2992T>A (p.Ser998Thr)
c.3070T>A (p.Ser1024Thr)
c.2821T>A (p.Ser941Thr)
c.3052T>A (p.Ser1018Thr)
c.1978T>A (p.Ser660Thr)
n.3033T>A
1g.151405858A>CCA420909509POGZc.3225T>G (p.Arg1075=)
c.3018T>G (p.Arg1006=)
c.3177T>G (p.Arg1059=)
c.3198T>G (p.Arg1066=)
n.3325T>G
c.2892T>G (p.Arg964=)
c.3150T>G (p.Arg1050=)
c.3045T>G (p.Arg1015=)
c.2991T>G (p.Arg997=)
c.3069T>G (p.Arg1023=)
c.2820T>G (p.Arg940=)
c.3051T>G (p.Arg1017=)
c.1977T>G (p.Arg659=)
n.3032T>G
1g.151405858A>GCA420909510POGZc.3225T>C (p.Arg1075=)
c.3018T>C (p.Arg1006=)
c.3177T>C (p.Arg1059=)
c.3198T>C (p.Arg1066=)
n.3325T>C
c.2892T>C (p.Arg964=)
c.3150T>C (p.Arg1050=)
c.3045T>C (p.Arg1015=)
c.2991T>C (p.Arg997=)
c.3069T>C (p.Arg1023=)
c.2820T>C (p.Arg940=)
c.3051T>C (p.Arg1017=)
c.1977T>C (p.Arg659=)
n.3032T>C
1g.151405858A>TCA420909511POGZc.3225T>A (p.Arg1075=)
c.3018T>A (p.Arg1006=)
c.3177T>A (p.Arg1059=)
c.3198T>A (p.Arg1066=)
n.3325T>A
c.2892T>A (p.Arg964=)
c.3150T>A (p.Arg1050=)
c.3045T>A (p.Arg1015=)
c.2991T>A (p.Arg997=)
c.3069T>A (p.Arg1023=)
c.2820T>A (p.Arg940=)
c.3051T>A (p.Arg1017=)
c.1977T>A (p.Arg659=)
n.3032T>A
1g.151405859C>ACA341945069POGZc.3224G>T (p.Arg1075Leu)
c.3017G>T (p.Arg1006Leu)
c.3176G>T (p.Arg1059Leu)
c.3197G>T (p.Arg1066Leu)
n.3324G>T
c.2891G>T (p.Arg964Leu)
c.3149G>T (p.Arg1050Leu)
c.3044G>T (p.Arg1015Leu)
c.2990G>T (p.Arg997Leu)
c.3068G>T (p.Arg1023Leu)
c.2819G>T (p.Arg940Leu)
c.3050G>T (p.Arg1017Leu)
c.1976G>T (p.Arg659Leu)
n.3031G>T
1g.151405859C=CA2479570448POGZc.3224G= (p.Arg1075=)
c.3017G= (p.Arg1006=)
c.3176G= (p.Arg1059=)
c.3197G= (p.Arg1066=)
n.3324G=
c.2891G= (p.Arg964=)
c.3149G= (p.Arg1050=)
c.3044G= (p.Arg1015=)
c.2990G= (p.Arg997=)
c.3068G= (p.Arg1023=)
c.2819G= (p.Arg940=)
c.3050G= (p.Arg1017=)
c.1976G= (p.Arg659=)
n.3031G=
1g.151405859C>GCA341945071POGZc.3224G>C (p.Arg1075Pro)
c.3017G>C (p.Arg1006Pro)
c.3176G>C (p.Arg1059Pro)
c.3197G>C (p.Arg1066Pro)
n.3324G>C
c.2891G>C (p.Arg964Pro)
c.3149G>C (p.Arg1050Pro)
c.3044G>C (p.Arg1015Pro)
c.2990G>C (p.Arg997Pro)
c.3068G>C (p.Arg1023Pro)
c.2819G>C (p.Arg940Pro)
c.3050G>C (p.Arg1017Pro)
c.1976G>C (p.Arg659Pro)
n.3031G>C
1g.151405859C>TCA29569059POGZc.3224G>A (p.Arg1075His)
c.3017G>A (p.Arg1006His)
c.3176G>A (p.Arg1059His)
c.3197G>A (p.Arg1066His)
n.3324G>A
c.2891G>A (p.Arg964His)
c.3149G>A (p.Arg1050His)
c.3044G>A (p.Arg1015His)
c.2990G>A (p.Arg997His)
c.3068G>A (p.Arg1023His)
c.2819G>A (p.Arg940His)
c.3050G>A (p.Arg1017His)
c.1976G>A (p.Arg659His)
n.3031G>A
dbSNP gnomAD v3 gnomAD v4
1g.151405860G>ACA341945075POGZc.3223C>T (p.Arg1075Cys)
c.3016C>T (p.Arg1006Cys)
c.3175C>T (p.Arg1059Cys)
c.3196C>T (p.Arg1066Cys)
n.3323C>T
c.2890C>T (p.Arg964Cys)
c.3148C>T (p.Arg1050Cys)
c.3043C>T (p.Arg1015Cys)
c.2989C>T (p.Arg997Cys)
c.3067C>T (p.Arg1023Cys)
c.2818C>T (p.Arg940Cys)
c.3049C>T (p.Arg1017Cys)
c.1975C>T (p.Arg659Cys)
n.3030C>T
1g.151405860G>CCA341945076POGZc.3223C>G (p.Arg1075Gly)
c.3016C>G (p.Arg1006Gly)
c.3175C>G (p.Arg1059Gly)
c.3196C>G (p.Arg1066Gly)
n.3323C>G
c.2890C>G (p.Arg964Gly)
c.3148C>G (p.Arg1050Gly)
c.3043C>G (p.Arg1015Gly)
c.2989C>G (p.Arg997Gly)
c.3067C>G (p.Arg1023Gly)
c.2818C>G (p.Arg940Gly)
c.3049C>G (p.Arg1017Gly)
c.1975C>G (p.Arg659Gly)
n.3030C>G
1g.151405860G>TCA341945074POGZc.3223C>A (p.Arg1075Ser)
c.3016C>A (p.Arg1006Ser)
c.3175C>A (p.Arg1059Ser)
c.3196C>A (p.Arg1066Ser)
n.3323C>A
c.2890C>A (p.Arg964Ser)
c.3148C>A (p.Arg1050Ser)
c.3043C>A (p.Arg1015Ser)
c.2989C>A (p.Arg997Ser)
c.3067C>A (p.Arg1023Ser)
c.2818C>A (p.Arg940Ser)
c.3049C>A (p.Arg1017Ser)
c.1975C>A (p.Arg659Ser)
n.3030C>A
1g.151405861T>ACA420909512POGZc.3222A>T (p.Gly1074=)
c.3015A>T (p.Gly1005=)
c.3174A>T (p.Gly1058=)
c.3195A>T (p.Gly1065=)
n.3322A>T
c.2889A>T (p.Gly963=)
c.3147A>T (p.Gly1049=)
c.3042A>T (p.Gly1014=)
c.2988A>T (p.Gly996=)
c.3066A>T (p.Gly1022=)
c.2817A>T (p.Gly939=)
c.3048A>T (p.Gly1016=)
c.1974A>T (p.Gly658=)
n.3029A>T
1g.151405861T>CCA420909513POGZc.3222A>G (p.Gly1074=)
c.3015A>G (p.Gly1005=)
c.3174A>G (p.Gly1058=)
c.3195A>G (p.Gly1065=)
n.3322A>G
c.2889A>G (p.Gly963=)
c.3147A>G (p.Gly1049=)
c.3042A>G (p.Gly1014=)
c.2988A>G (p.Gly996=)
c.3066A>G (p.Gly1022=)
c.2817A>G (p.Gly939=)
c.3048A>G (p.Gly1016=)
c.1974A>G (p.Gly658=)
n.3029A>G
1g.151405861T>GCA420909514POGZc.3222A>C (p.Gly1074=)
c.3015A>C (p.Gly1005=)
c.3174A>C (p.Gly1058=)
c.3195A>C (p.Gly1065=)
n.3322A>C
c.2889A>C (p.Gly963=)
c.3147A>C (p.Gly1049=)
c.3042A>C (p.Gly1014=)
c.2988A>C (p.Gly996=)
c.3066A>C (p.Gly1022=)
c.2817A>C (p.Gly939=)
c.3048A>C (p.Gly1016=)
c.1974A>C (p.Gly658=)
n.3029A>C
1g.151405862C>ACA341945083POGZc.3221G>T (p.Gly1074Val)
c.3014G>T (p.Gly1005Val)
c.3173G>T (p.Gly1058Val)
c.3194G>T (p.Gly1065Val)
n.3321G>T
c.2888G>T (p.Gly963Val)
c.3146G>T (p.Gly1049Val)
c.3041G>T (p.Gly1014Val)
c.2987G>T (p.Gly996Val)
c.3065G>T (p.Gly1022Val)
c.2816G>T (p.Gly939Val)
c.3047G>T (p.Gly1016Val)
c.1973G>T (p.Gly658Val)
n.3028G>T
1g.151405862C>GCA341945079POGZc.3221G>C (p.Gly1074Ala)
c.3014G>C (p.Gly1005Ala)
c.3173G>C (p.Gly1058Ala)
c.3194G>C (p.Gly1065Ala)
n.3321G>C
c.2888G>C (p.Gly963Ala)
c.3146G>C (p.Gly1049Ala)
c.3041G>C (p.Gly1014Ala)
c.2987G>C (p.Gly996Ala)
c.3065G>C (p.Gly1022Ala)
c.2816G>C (p.Gly939Ala)
c.3047G>C (p.Gly1016Ala)
c.1973G>C (p.Gly658Ala)
n.3028G>C
1g.151405862C>TCA341945080POGZc.3221G>A (p.Gly1074Glu)
c.3014G>A (p.Gly1005Glu)
c.3173G>A (p.Gly1058Glu)
c.3194G>A (p.Gly1065Glu)
n.3321G>A
c.2888G>A (p.Gly963Glu)
c.3146G>A (p.Gly1049Glu)
c.3041G>A (p.Gly1014Glu)
c.2987G>A (p.Gly996Glu)
c.3065G>A (p.Gly1022Glu)
c.2816G>A (p.Gly939Glu)
c.3047G>A (p.Gly1016Glu)
c.1973G>A (p.Gly658Glu)
n.3028G>A
1g.151405863C>ACA29569061POGZc.3220G>T (p.Gly1074Ter)
c.3013G>T (p.Gly1005Ter)
c.3172G>T (p.Gly1058Ter)
c.3193G>T (p.Gly1065Ter)
n.3320G>T
c.2887G>T (p.Gly963Ter)
c.3145G>T (p.Gly1049Ter)
c.3040G>T (p.Gly1014Ter)
c.2986G>T (p.Gly996Ter)
c.3064G>T (p.Gly1022Ter)
c.2815G>T (p.Gly939Ter)
c.3046G>T (p.Gly1016Ter)
c.1972G>T (p.Gly658Ter)
n.3027G>T
dbSNP
1g.151405863C=CA1140295232POGZc.3220G= (p.Gly1074=)
c.3013G= (p.Gly1005=)
c.3172G= (p.Gly1058=)
c.3193G= (p.Gly1065=)
n.3320G=
c.2887G= (p.Gly963=)
c.3145G= (p.Gly1049=)
c.3040G= (p.Gly1014=)
c.2986G= (p.Gly996=)
c.3064G= (p.Gly1022=)
c.2815G= (p.Gly939=)
c.3046G= (p.Gly1016=)
c.1972G= (p.Gly658=)
n.3027G=
1g.151405863C>GCA341945088POGZc.3220G>C (p.Gly1074Arg)
c.3013G>C (p.Gly1005Arg)
c.3172G>C (p.Gly1058Arg)
c.3193G>C (p.Gly1065Arg)
n.3320G>C
c.2887G>C (p.Gly963Arg)
c.3145G>C (p.Gly1049Arg)
c.3040G>C (p.Gly1014Arg)
c.2986G>C (p.Gly996Arg)
c.3064G>C (p.Gly1022Arg)
c.2815G>C (p.Gly939Arg)
c.3046G>C (p.Gly1016Arg)
c.1972G>C (p.Gly658Arg)
n.3027G>C
1g.151405863C>TCA341945092POGZc.3220G>A (p.Gly1074Arg)
c.3013G>A (p.Gly1005Arg)
c.3172G>A (p.Gly1058Arg)
c.3193G>A (p.Gly1065Arg)
n.3320G>A
c.2887G>A (p.Gly963Arg)
c.3145G>A (p.Gly1049Arg)
c.3040G>A (p.Gly1014Arg)
c.2986G>A (p.Gly996Arg)
c.3064G>A (p.Gly1022Arg)
c.2815G>A (p.Gly939Arg)
c.3046G>A (p.Gly1016Arg)
c.1972G>A (p.Gly658Arg)
n.3027G>A
gnomAD v4
1g.151405864T>ACA420909516POGZc.3219A>T (p.Ile1073=)
c.3012A>T (p.Ile1004=)
c.3171A>T (p.Ile1057=)
c.3192A>T (p.Ile1064=)
n.3319A>T
c.2886A>T (p.Ile962=)
c.3144A>T (p.Ile1048=)
c.3039A>T (p.Ile1013=)
c.2985A>T (p.Ile995=)
c.3063A>T (p.Ile1021=)
c.2814A>T (p.Ile938=)
c.3045A>T (p.Ile1015=)
c.1971A>T (p.Ile657=)
n.3026A>T
1g.151405864T>CCA341945096POGZc.3219A>G (p.Ile1073Met)
c.3012A>G (p.Ile1004Met)
c.3171A>G (p.Ile1057Met)
c.3192A>G (p.Ile1064Met)
n.3319A>G
c.2886A>G (p.Ile962Met)
c.3144A>G (p.Ile1048Met)
c.3039A>G (p.Ile1013Met)
c.2985A>G (p.Ile995Met)
c.3063A>G (p.Ile1021Met)
c.2814A>G (p.Ile938Met)
c.3045A>G (p.Ile1015Met)
c.1971A>G (p.Ile657Met)
n.3026A>G
1g.151405864T>GCA420909517POGZc.3219A>C (p.Ile1073=)
c.3012A>C (p.Ile1004=)
c.3171A>C (p.Ile1057=)
c.3192A>C (p.Ile1064=)
n.3319A>C
c.2886A>C (p.Ile962=)
c.3144A>C (p.Ile1048=)
c.3039A>C (p.Ile1013=)
c.2985A>C (p.Ile995=)
c.3063A>C (p.Ile1021=)
c.2814A>C (p.Ile938=)
c.3045A>C (p.Ile1015=)
c.1971A>C (p.Ile657=)
n.3026A>C
1g.151405865A>CCA341945106POGZc.3218T>G (p.Ile1073Arg)
c.3011T>G (p.Ile1004Arg)
c.3170T>G (p.Ile1057Arg)
c.3191T>G (p.Ile1064Arg)
n.3318T>G
c.2885T>G (p.Ile962Arg)
c.3143T>G (p.Ile1048Arg)
c.3038T>G (p.Ile1013Arg)
c.2984T>G (p.Ile995Arg)
c.3062T>G (p.Ile1021Arg)
c.2813T>G (p.Ile938Arg)
c.3044T>G (p.Ile1015Arg)
c.1970T>G (p.Ile657Arg)
n.3025T>G
1g.151405865A>GCA341945101POGZc.3218T>C (p.Ile1073Thr)
c.3011T>C (p.Ile1004Thr)
c.3170T>C (p.Ile1057Thr)
c.3191T>C (p.Ile1064Thr)
n.3318T>C
c.2885T>C (p.Ile962Thr)
c.3143T>C (p.Ile1048Thr)
c.3038T>C (p.Ile1013Thr)
c.2984T>C (p.Ile995Thr)
c.3062T>C (p.Ile1021Thr)
c.2813T>C (p.Ile938Thr)
c.3044T>C (p.Ile1015Thr)
c.1970T>C (p.Ile657Thr)
n.3025T>C
gnomAD v4
1g.151405865A>TCA341945104POGZc.3218T>A (p.Ile1073Lys)
c.3011T>A (p.Ile1004Lys)
c.3170T>A (p.Ile1057Lys)
c.3191T>A (p.Ile1064Lys)
n.3318T>A
c.2885T>A (p.Ile962Lys)
c.3143T>A (p.Ile1048Lys)
c.3038T>A (p.Ile1013Lys)
c.2984T>A (p.Ile995Lys)
c.3062T>A (p.Ile1021Lys)
c.2813T>A (p.Ile938Lys)
c.3044T>A (p.Ile1015Lys)
c.1970T>A (p.Ile657Lys)
n.3025T>A
1g.151405866T>ACA341945110POGZc.3217A>T (p.Ile1073Leu)
c.3010A>T (p.Ile1004Leu)
c.3169A>T (p.Ile1057Leu)
c.3190A>T (p.Ile1064Leu)
n.3317A>T
c.2884A>T (p.Ile962Leu)
c.3142A>T (p.Ile1048Leu)
c.3037A>T (p.Ile1013Leu)
c.2983A>T (p.Ile995Leu)
c.3061A>T (p.Ile1021Leu)
c.2812A>T (p.Ile938Leu)
c.3043A>T (p.Ile1015Leu)
c.1969A>T (p.Ile657Leu)
n.3024A>T
1g.151405866T>CCA341945113POGZc.3217A>G (p.Ile1073Val)
c.3010A>G (p.Ile1004Val)
c.3169A>G (p.Ile1057Val)
c.3190A>G (p.Ile1064Val)
n.3317A>G
c.2884A>G (p.Ile962Val)
c.3142A>G (p.Ile1048Val)
c.3037A>G (p.Ile1013Val)
c.2983A>G (p.Ile995Val)
c.3061A>G (p.Ile1021Val)
c.2812A>G (p.Ile938Val)
c.3043A>G (p.Ile1015Val)
c.1969A>G (p.Ile657Val)
n.3024A>G
COSMIC COSMIC
1g.151405866T>GCA341945117POGZc.3217A>C (p.Ile1073Leu)
c.3010A>C (p.Ile1004Leu)
c.3169A>C (p.Ile1057Leu)
c.3190A>C (p.Ile1064Leu)
n.3317A>C
c.2884A>C (p.Ile962Leu)
c.3142A>C (p.Ile1048Leu)
c.3037A>C (p.Ile1013Leu)
c.2983A>C (p.Ile995Leu)
c.3061A>C (p.Ile1021Leu)
c.2812A>C (p.Ile938Leu)
c.3043A>C (p.Ile1015Leu)
c.1969A>C (p.Ile657Leu)
n.3024A>C
1g.151405867T>ACA341945121POGZc.3216A>T (p.Lys1072Asn)
c.3009A>T (p.Lys1003Asn)
c.3168A>T (p.Lys1056Asn)
c.3189A>T (p.Lys1063Asn)
n.3316A>T
c.2883A>T (p.Lys961Asn)
c.3141A>T (p.Lys1047Asn)
c.3036A>T (p.Lys1012Asn)
c.2982A>T (p.Lys994Asn)
c.3060A>T (p.Lys1020Asn)
c.2811A>T (p.Lys937Asn)
c.3042A>T (p.Lys1014Asn)
c.1968A>T (p.Lys656Asn)
n.3023A>T
1g.151405867T>CCA420909520POGZc.3216A>G (p.Lys1072=)
c.3009A>G (p.Lys1003=)
c.3168A>G (p.Lys1056=)
c.3189A>G (p.Lys1063=)
n.3316A>G
c.2883A>G (p.Lys961=)
c.3141A>G (p.Lys1047=)
c.3036A>G (p.Lys1012=)
c.2982A>G (p.Lys994=)
c.3060A>G (p.Lys1020=)
c.2811A>G (p.Lys937=)
c.3042A>G (p.Lys1014=)
c.1968A>G (p.Lys656=)
n.3023A>G
1g.151405867T>GCA341945122POGZc.3216A>C (p.Lys1072Asn)
c.3009A>C (p.Lys1003Asn)
c.3168A>C (p.Lys1056Asn)
c.3189A>C (p.Lys1063Asn)
n.3316A>C
c.2883A>C (p.Lys961Asn)
c.3141A>C (p.Lys1047Asn)
c.3036A>C (p.Lys1012Asn)
c.2982A>C (p.Lys994Asn)
c.3060A>C (p.Lys1020Asn)
c.2811A>C (p.Lys937Asn)
c.3042A>C (p.Lys1014Asn)
c.1968A>C (p.Lys656Asn)
n.3023A>C
1g.151405868T>ACA341945128POGZc.3215A>T (p.Lys1072Ile)
c.3008A>T (p.Lys1003Ile)
c.3167A>T (p.Lys1056Ile)
c.3188A>T (p.Lys1063Ile)
n.3315A>T
c.2882A>T (p.Lys961Ile)
c.3140A>T (p.Lys1047Ile)
c.3035A>T (p.Lys1012Ile)
c.2981A>T (p.Lys994Ile)
c.3059A>T (p.Lys1020Ile)
c.2810A>T (p.Lys937Ile)
c.3041A>T (p.Lys1014Ile)
c.1967A>T (p.Lys656Ile)
n.3022A>T
1g.151405868T>CCA341945133POGZc.3215A>G (p.Lys1072Arg)
c.3008A>G (p.Lys1003Arg)
c.3167A>G (p.Lys1056Arg)
c.3188A>G (p.Lys1063Arg)
n.3315A>G
c.2882A>G (p.Lys961Arg)
c.3140A>G (p.Lys1047Arg)
c.3035A>G (p.Lys1012Arg)
c.2981A>G (p.Lys994Arg)
c.3059A>G (p.Lys1020Arg)
c.2810A>G (p.Lys937Arg)
c.3041A>G (p.Lys1014Arg)
c.1967A>G (p.Lys656Arg)
n.3022A>G
1g.151405868T>GCA341945130POGZc.3215A>C (p.Lys1072Thr)
c.3008A>C (p.Lys1003Thr)
c.3167A>C (p.Lys1056Thr)
c.3188A>C (p.Lys1063Thr)
n.3315A>C
c.2882A>C (p.Lys961Thr)
c.3140A>C (p.Lys1047Thr)
c.3035A>C (p.Lys1012Thr)
c.2981A>C (p.Lys994Thr)
c.3059A>C (p.Lys1020Thr)
c.2810A>C (p.Lys937Thr)
c.3041A>C (p.Lys1014Thr)
c.1967A>C (p.Lys656Thr)
n.3022A>C
1g.151405869T>ACA341945138POGZc.3214A>T (p.Lys1072Ter)
c.3007A>T (p.Lys1003Ter)
c.3166A>T (p.Lys1056Ter)
c.3187A>T (p.Lys1063Ter)
n.3314A>T
c.2881A>T (p.Lys961Ter)
c.3139A>T (p.Lys1047Ter)
c.3034A>T (p.Lys1012Ter)
c.2980A>T (p.Lys994Ter)
c.3058A>T (p.Lys1020Ter)
c.2809A>T (p.Lys937Ter)
c.3040A>T (p.Lys1014Ter)
c.1966A>T (p.Lys656Ter)
n.3021A>T
1g.151405869T>CCA341945141POGZc.3214A>G (p.Lys1072Glu)
c.3007A>G (p.Lys1003Glu)
c.3166A>G (p.Lys1056Glu)
c.3187A>G (p.Lys1063Glu)
n.3314A>G
c.2881A>G (p.Lys961Glu)
c.3139A>G (p.Lys1047Glu)
c.3034A>G (p.Lys1012Glu)
c.2980A>G (p.Lys994Glu)
c.3058A>G (p.Lys1020Glu)
c.2809A>G (p.Lys937Glu)
c.3040A>G (p.Lys1014Glu)
c.1966A>G (p.Lys656Glu)
n.3021A>G
1g.151405869T>GCA341945143POGZc.3214A>C (p.Lys1072Gln)
c.3007A>C (p.Lys1003Gln)
c.3166A>C (p.Lys1056Gln)
c.3187A>C (p.Lys1063Gln)
n.3314A>C
c.2881A>C (p.Lys961Gln)
c.3139A>C (p.Lys1047Gln)
c.3034A>C (p.Lys1012Gln)
c.2980A>C (p.Lys994Gln)
c.3058A>C (p.Lys1020Gln)
c.2809A>C (p.Lys937Gln)
c.3040A>C (p.Lys1014Gln)
c.1966A>C (p.Lys656Gln)
n.3021A>C
1g.151405870G>ACA420909521POGZc.3213C>T (p.Thr1071=)
c.3006C>T (p.Thr1002=)
c.3165C>T (p.Thr1055=)
c.3186C>T (p.Thr1062=)
n.3313C>T
c.2880C>T (p.Thr960=)
c.3138C>T (p.Thr1046=)
c.3033C>T (p.Thr1011=)
c.2979C>T (p.Thr993=)
c.3057C>T (p.Thr1019=)
c.2808C>T (p.Thr936=)
c.3039C>T (p.Thr1013=)
c.1965C>T (p.Thr655=)
n.3020C>T
gnomAD v4
1g.151405870G>CCA420909522POGZc.3213C>G (p.Thr1071=)
c.3006C>G (p.Thr1002=)
c.3165C>G (p.Thr1055=)
c.3186C>G (p.Thr1062=)
n.3313C>G
c.2880C>G (p.Thr960=)
c.3138C>G (p.Thr1046=)
c.3033C>G (p.Thr1011=)
c.2979C>G (p.Thr993=)
c.3057C>G (p.Thr1019=)
c.2808C>G (p.Thr936=)
c.3039C>G (p.Thr1013=)
c.1965C>G (p.Thr655=)
n.3020C>G
1g.151405870G>TCA420909523POGZc.3213C>A (p.Thr1071=)
c.3006C>A (p.Thr1002=)
c.3165C>A (p.Thr1055=)
c.3186C>A (p.Thr1062=)
n.3313C>A
c.2880C>A (p.Thr960=)
c.3138C>A (p.Thr1046=)
c.3033C>A (p.Thr1011=)
c.2979C>A (p.Thr993=)
c.3057C>A (p.Thr1019=)
c.2808C>A (p.Thr936=)
c.3039C>A (p.Thr1013=)
c.1965C>A (p.Thr655=)
n.3020C>A
1g.151405871G>ACA341945147POGZc.3212C>T (p.Thr1071Ile)
c.3005C>T (p.Thr1002Ile)
c.3164C>T (p.Thr1055Ile)
c.3185C>T (p.Thr1062Ile)
n.3312C>T
c.2879C>T (p.Thr960Ile)
c.3137C>T (p.Thr1046Ile)
c.3032C>T (p.Thr1011Ile)
c.2978C>T (p.Thr993Ile)
c.3056C>T (p.Thr1019Ile)
c.2807C>T (p.Thr936Ile)
c.3038C>T (p.Thr1013Ile)
c.1964C>T (p.Thr655Ile)
n.3019C>T
1g.151405871G>CCA341945150POGZc.3212C>G (p.Thr1071Ser)
c.3005C>G (p.Thr1002Ser)
c.3164C>G (p.Thr1055Ser)
c.3185C>G (p.Thr1062Ser)
n.3312C>G
c.2879C>G (p.Thr960Ser)
c.3137C>G (p.Thr1046Ser)
c.3032C>G (p.Thr1011Ser)
c.2978C>G (p.Thr993Ser)
c.3056C>G (p.Thr1019Ser)
c.2807C>G (p.Thr936Ser)
c.3038C>G (p.Thr1013Ser)
c.1964C>G (p.Thr655Ser)
n.3019C>G
1g.151405871G>TCA341945152POGZc.3212C>A (p.Thr1071Asn)
c.3005C>A (p.Thr1002Asn)
c.3164C>A (p.Thr1055Asn)
c.3185C>A (p.Thr1062Asn)
n.3312C>A
c.2879C>A (p.Thr960Asn)
c.3137C>A (p.Thr1046Asn)
c.3032C>A (p.Thr1011Asn)
c.2978C>A (p.Thr993Asn)
c.3056C>A (p.Thr1019Asn)
c.2807C>A (p.Thr936Asn)
c.3038C>A (p.Thr1013Asn)
c.1964C>A (p.Thr655Asn)
n.3019C>A
1g.151405872T>ACA341945155POGZc.3211A>T (p.Thr1071Ser)
c.3004A>T (p.Thr1002Ser)
c.3163A>T (p.Thr1055Ser)
c.3184A>T (p.Thr1062Ser)
n.3311A>T
c.2878A>T (p.Thr960Ser)
c.3136A>T (p.Thr1046Ser)
c.3031A>T (p.Thr1011Ser)
c.2977A>T (p.Thr993Ser)
c.3055A>T (p.Thr1019Ser)
c.2806A>T (p.Thr936Ser)
c.3037A>T (p.Thr1013Ser)
c.1963A>T (p.Thr655Ser)
n.3018A>T
1g.151405872T>CCA341945157POGZc.3211A>G (p.Thr1071Ala)
c.3004A>G (p.Thr1002Ala)
c.3163A>G (p.Thr1055Ala)
c.3184A>G (p.Thr1062Ala)
n.3311A>G
c.2878A>G (p.Thr960Ala)
c.3136A>G (p.Thr1046Ala)
c.3031A>G (p.Thr1011Ala)
c.2977A>G (p.Thr993Ala)
c.3055A>G (p.Thr1019Ala)
c.2806A>G (p.Thr936Ala)
c.3037A>G (p.Thr1013Ala)
c.1963A>G (p.Thr655Ala)
n.3018A>G
1g.151405872T>GCA341945161POGZc.3211A>C (p.Thr1071Pro)
c.3004A>C (p.Thr1002Pro)
c.3163A>C (p.Thr1055Pro)
c.3184A>C (p.Thr1062Pro)
n.3311A>C
c.2878A>C (p.Thr960Pro)
c.3136A>C (p.Thr1046Pro)
c.3031A>C (p.Thr1011Pro)
c.2977A>C (p.Thr993Pro)
c.3055A>C (p.Thr1019Pro)
c.2806A>C (p.Thr936Pro)
c.3037A>C (p.Thr1013Pro)
c.1963A>C (p.Thr655Pro)
n.3018A>C
1g.151405873G>ACA1091003POGZc.3210C>T (p.Ala1070=)
c.3003C>T (p.Ala1001=)
c.3162C>T (p.Ala1054=)
c.3183C>T (p.Ala1061=)
n.3310C>T
c.2877C>T (p.Ala959=)
c.3135C>T (p.Ala1045=)
c.3030C>T (p.Ala1010=)
c.2976C>T (p.Ala992=)
c.3054C>T (p.Ala1018=)
c.2805C>T (p.Ala935=)
c.3036C>T (p.Ala1012=)
c.1962C>T (p.Ala654=)
n.3017C>T
dbSNP ExAC
1g.151405873G>CCA420909529POGZc.3210C>G (p.Ala1070=)
c.3003C>G (p.Ala1001=)
c.3162C>G (p.Ala1054=)
c.3183C>G (p.Ala1061=)
n.3310C>G
c.2877C>G (p.Ala959=)
c.3135C>G (p.Ala1045=)
c.3030C>G (p.Ala1010=)
c.2976C>G (p.Ala992=)
c.3054C>G (p.Ala1018=)
c.2805C>G (p.Ala935=)
c.3036C>G (p.Ala1012=)
c.1962C>G (p.Ala654=)
n.3017C>G
1g.151405873G=CA1149132777POGZc.3210C= (p.Ala1070=)
c.3003C= (p.Ala1001=)
c.3162C= (p.Ala1054=)
c.3183C= (p.Ala1061=)
n.3310C=
c.2877C= (p.Ala959=)
c.3135C= (p.Ala1045=)
c.3030C= (p.Ala1010=)
c.2976C= (p.Ala992=)
c.3054C= (p.Ala1018=)
c.2805C= (p.Ala935=)
c.3036C= (p.Ala1012=)
c.1962C= (p.Ala654=)
n.3017C=
1g.151405873G>TCA420909528POGZc.3210C>A (p.Ala1070=)
c.3003C>A (p.Ala1001=)
c.3162C>A (p.Ala1054=)
c.3183C>A (p.Ala1061=)
n.3310C>A
c.2877C>A (p.Ala959=)
c.3135C>A (p.Ala1045=)
c.3030C>A (p.Ala1010=)
c.2976C>A (p.Ala992=)
c.3054C>A (p.Ala1018=)
c.2805C>A (p.Ala935=)
c.3036C>A (p.Ala1012=)
c.1962C>A (p.Ala654=)
n.3017C>A
1g.151405874G>ACA341945176POGZc.3209C>T (p.Ala1070Val)
c.3002C>T (p.Ala1001Val)
c.3161C>T (p.Ala1054Val)
c.3182C>T (p.Ala1061Val)
n.3309C>T
c.2876C>T (p.Ala959Val)
c.3134C>T (p.Ala1045Val)
c.3029C>T (p.Ala1010Val)
c.2975C>T (p.Ala992Val)
c.3053C>T (p.Ala1018Val)
c.2804C>T (p.Ala935Val)
c.3035C>T (p.Ala1012Val)
c.1961C>T (p.Ala654Val)
n.3016C>T
1g.151405874G>CCA341945173POGZc.3209C>G (p.Ala1070Gly)
c.3002C>G (p.Ala1001Gly)
c.3161C>G (p.Ala1054Gly)
c.3182C>G (p.Ala1061Gly)
n.3309C>G
c.2876C>G (p.Ala959Gly)
c.3134C>G (p.Ala1045Gly)
c.3029C>G (p.Ala1010Gly)
c.2975C>G (p.Ala992Gly)
c.3053C>G (p.Ala1018Gly)
c.2804C>G (p.Ala935Gly)
c.3035C>G (p.Ala1012Gly)
c.1961C>G (p.Ala654Gly)
n.3016C>G
1g.151405874G>TCA341945170POGZc.3209C>A (p.Ala1070Asp)
c.3002C>A (p.Ala1001Asp)
c.3161C>A (p.Ala1054Asp)
c.3182C>A (p.Ala1061Asp)
n.3309C>A
c.2876C>A (p.Ala959Asp)
c.3134C>A (p.Ala1045Asp)
c.3029C>A (p.Ala1010Asp)
c.2975C>A (p.Ala992Asp)
c.3053C>A (p.Ala1018Asp)
c.2804C>A (p.Ala935Asp)
c.3035C>A (p.Ala1012Asp)
c.1961C>A (p.Ala654Asp)
n.3016C>A
1g.151405875C>ACA341945183POGZc.3208G>T (p.Ala1070Ser)
c.3001G>T (p.Ala1001Ser)
c.3160G>T (p.Ala1054Ser)
c.3181G>T (p.Ala1061Ser)
n.3308G>T
c.2875G>T (p.Ala959Ser)
c.3133G>T (p.Ala1045Ser)
c.3028G>T (p.Ala1010Ser)
c.2974G>T (p.Ala992Ser)
c.3052G>T (p.Ala1018Ser)
c.2803G>T (p.Ala935Ser)
c.3034G>T (p.Ala1012Ser)
c.1960G>T (p.Ala654Ser)
n.3015G>T
1g.151405875C>GCA341945185POGZc.3208G>C (p.Ala1070Pro)
c.3001G>C (p.Ala1001Pro)
c.3160G>C (p.Ala1054Pro)
c.3181G>C (p.Ala1061Pro)
n.3308G>C
c.2875G>C (p.Ala959Pro)
c.3133G>C (p.Ala1045Pro)
c.3028G>C (p.Ala1010Pro)
c.2974G>C (p.Ala992Pro)
c.3052G>C (p.Ala1018Pro)
c.2803G>C (p.Ala935Pro)
c.3034G>C (p.Ala1012Pro)
c.1960G>C (p.Ala654Pro)
n.3015G>C
1g.151405875C>TCA341945187POGZc.3208G>A (p.Ala1070Thr)
c.3001G>A (p.Ala1001Thr)
c.3160G>A (p.Ala1054Thr)
c.3181G>A (p.Ala1061Thr)
n.3308G>A
c.2875G>A (p.Ala959Thr)
c.3133G>A (p.Ala1045Thr)
c.3028G>A (p.Ala1010Thr)
c.2974G>A (p.Ala992Thr)
c.3052G>A (p.Ala1018Thr)
c.2803G>A (p.Ala935Thr)
c.3034G>A (p.Ala1012Thr)
c.1960G>A (p.Ala654Thr)
n.3015G>A
1g.151405876C>ACA341945190POGZc.3207G>T (p.Lys1069Asn)
c.3000G>T (p.Lys1000Asn)
c.3159G>T (p.Lys1053Asn)
c.3180G>T (p.Lys1060Asn)
n.3307G>T
c.2874G>T (p.Lys958Asn)
c.3132G>T (p.Lys1044Asn)
c.3027G>T (p.Lys1009Asn)
c.2973G>T (p.Lys991Asn)
c.3051G>T (p.Lys1017Asn)
c.2802G>T (p.Lys934Asn)
c.3033G>T (p.Lys1011Asn)
c.1959G>T (p.Lys653Asn)
n.3014G>T
1g.151405876C=CA2479570449POGZc.3207G= (p.Lys1069=)
c.3000G= (p.Lys1000=)
c.3159G= (p.Lys1053=)
c.3180G= (p.Lys1060=)
n.3307G=
c.2874G= (p.Lys958=)
c.3132G= (p.Lys1044=)
c.3027G= (p.Lys1009=)
c.2973G= (p.Lys991=)
c.3051G= (p.Lys1017=)
c.2802G= (p.Lys934=)
c.3033G= (p.Lys1011=)
c.1959G= (p.Lys653=)
n.3014G=
1g.151405876C>GCA341945193POGZc.3207G>C (p.Lys1069Asn)
c.3000G>C (p.Lys1000Asn)
c.3159G>C (p.Lys1053Asn)
c.3180G>C (p.Lys1060Asn)
n.3307G>C
c.2874G>C (p.Lys958Asn)
c.3132G>C (p.Lys1044Asn)
c.3027G>C (p.Lys1009Asn)
c.2973G>C (p.Lys991Asn)
c.3051G>C (p.Lys1017Asn)
c.2802G>C (p.Lys934Asn)
c.3033G>C (p.Lys1011Asn)
c.1959G>C (p.Lys653Asn)
n.3014G>C
dbSNP gnomAD v2 gnomAD v4
1g.151405876C>TCA420909531POGZc.3207G>A (p.Lys1069=)
c.3000G>A (p.Lys1000=)
c.3159G>A (p.Lys1053=)
c.3180G>A (p.Lys1060=)
n.3307G>A
c.2874G>A (p.Lys958=)
c.3132G>A (p.Lys1044=)
c.3027G>A (p.Lys1009=)
c.2973G>A (p.Lys991=)
c.3051G>A (p.Lys1017=)
c.2802G>A (p.Lys934=)
c.3033G>A (p.Lys1011=)
c.1959G>A (p.Lys653=)
n.3014G>A
1g.151405877T>ACA341945198POGZc.3206A>T (p.Lys1069Met)
c.2999A>T (p.Lys1000Met)
c.3158A>T (p.Lys1053Met)
c.3179A>T (p.Lys1060Met)
n.3306A>T
c.2873A>T (p.Lys958Met)
c.3131A>T (p.Lys1044Met)
c.3026A>T (p.Lys1009Met)
c.2972A>T (p.Lys991Met)
c.3050A>T (p.Lys1017Met)
c.2801A>T (p.Lys934Met)
c.3032A>T (p.Lys1011Met)
c.1958A>T (p.Lys653Met)
n.3013A>T
1g.151405877T>CCA341945199POGZc.3206A>G (p.Lys1069Arg)
c.2999A>G (p.Lys1000Arg)
c.3158A>G (p.Lys1053Arg)
c.3179A>G (p.Lys1060Arg)
n.3306A>G
c.2873A>G (p.Lys958Arg)
c.3131A>G (p.Lys1044Arg)
c.3026A>G (p.Lys1009Arg)
c.2972A>G (p.Lys991Arg)
c.3050A>G (p.Lys1017Arg)
c.2801A>G (p.Lys934Arg)
c.3032A>G (p.Lys1011Arg)
c.1958A>G (p.Lys653Arg)
n.3013A>G
1g.151405877T>GCA341945202POGZc.3206A>C (p.Lys1069Thr)
c.2999A>C (p.Lys1000Thr)
c.3158A>C (p.Lys1053Thr)
c.3179A>C (p.Lys1060Thr)
n.3306A>C
c.2873A>C (p.Lys958Thr)
c.3131A>C (p.Lys1044Thr)
c.3026A>C (p.Lys1009Thr)
c.2972A>C (p.Lys991Thr)
c.3050A>C (p.Lys1017Thr)
c.2801A>C (p.Lys934Thr)
c.3032A>C (p.Lys1011Thr)
c.1958A>C (p.Lys653Thr)
n.3013A>C
1g.151405878T>ACA341945206POGZc.3205A>T (p.Lys1069Ter)
c.2998A>T (p.Lys1000Ter)
c.3157A>T (p.Lys1053Ter)
c.3178A>T (p.Lys1060Ter)
n.3305A>T
c.2872A>T (p.Lys958Ter)
c.3130A>T (p.Lys1044Ter)
c.3025A>T (p.Lys1009Ter)
c.2971A>T (p.Lys991Ter)
c.3049A>T (p.Lys1017Ter)
c.2800A>T (p.Lys934Ter)
c.3031A>T (p.Lys1011Ter)
c.1957A>T (p.Lys653Ter)
n.3012A>T
1g.151405878T>CCA341945208POGZc.3205A>G (p.Lys1069Glu)
c.2998A>G (p.Lys1000Glu)
c.3157A>G (p.Lys1053Glu)
c.3178A>G (p.Lys1060Glu)
n.3305A>G
c.2872A>G (p.Lys958Glu)
c.3130A>G (p.Lys1044Glu)
c.3025A>G (p.Lys1009Glu)
c.2971A>G (p.Lys991Glu)
c.3049A>G (p.Lys1017Glu)
c.2800A>G (p.Lys934Glu)
c.3031A>G (p.Lys1011Glu)
c.1957A>G (p.Lys653Glu)
n.3012A>G
1g.151405878T>GCA341945211POGZc.3205A>C (p.Lys1069Gln)
c.2998A>C (p.Lys1000Gln)
c.3157A>C (p.Lys1053Gln)
c.3178A>C (p.Lys1060Gln)
n.3305A>C
c.2872A>C (p.Lys958Gln)
c.3130A>C (p.Lys1044Gln)
c.3025A>C (p.Lys1009Gln)
c.2971A>C (p.Lys991Gln)
c.3049A>C (p.Lys1017Gln)
c.2800A>C (p.Lys934Gln)
c.3031A>C (p.Lys1011Gln)
c.1957A>C (p.Lys653Gln)
n.3012A>C
1g.151405879C>ACA341945215POGZc.3204G>T (p.Gln1068His)
c.2997G>T (p.Gln999His)
c.3156G>T (p.Gln1052His)
c.3177G>T (p.Gln1059His)
n.3304G>T
c.2871G>T (p.Gln957His)
c.3129G>T (p.Gln1043His)
c.3024G>T (p.Gln1008His)
c.2970G>T (p.Gln990His)
c.3048G>T (p.Gln1016His)
c.2799G>T (p.Gln933His)
c.3030G>T (p.Gln1010His)
c.1956G>T (p.Gln652His)
n.3011G>T
1g.151405879C=CA2479570450POGZc.3204G= (p.Gln1068=)
c.2997G= (p.Gln999=)
c.3156G= (p.Gln1052=)
c.3177G= (p.Gln1059=)
n.3304G=
c.2871G= (p.Gln957=)
c.3129G= (p.Gln1043=)
c.3024G= (p.Gln1008=)
c.2970G= (p.Gln990=)
c.3048G= (p.Gln1016=)
c.2799G= (p.Gln933=)
c.3030G= (p.Gln1010=)
c.1956G= (p.Gln652=)
n.3011G=
1g.151405879C>GCA341945219POGZc.3204G>C (p.Gln1068His)
c.2997G>C (p.Gln999His)
c.3156G>C (p.Gln1052His)
c.3177G>C (p.Gln1059His)
n.3304G>C
c.2871G>C (p.Gln957His)
c.3129G>C (p.Gln1043His)
c.3024G>C (p.Gln1008His)
c.2970G>C (p.Gln990His)
c.3048G>C (p.Gln1016His)
c.2799G>C (p.Gln933His)
c.3030G>C (p.Gln1010His)
c.1956G>C (p.Gln652His)
n.3011G>C
1g.151405879C>TCA420909532POGZc.3204G>A (p.Gln1068=)
c.2997G>A (p.Gln999=)
c.3156G>A (p.Gln1052=)
c.3177G>A (p.Gln1059=)
n.3304G>A
c.2871G>A (p.Gln957=)
c.3129G>A (p.Gln1043=)
c.3024G>A (p.Gln1008=)
c.2970G>A (p.Gln990=)
c.3048G>A (p.Gln1016=)
c.2799G>A (p.Gln933=)
c.3030G>A (p.Gln1010=)
c.1956G>A (p.Gln652=)
n.3011G>A
dbSNP
1g.151405880T>ACA341945236POGZc.3203A>T (p.Gln1068Leu)
c.2996A>T (p.Gln999Leu)
c.3155A>T (p.Gln1052Leu)
c.3176A>T (p.Gln1059Leu)
n.3303A>T
c.2870A>T (p.Gln957Leu)
c.3128A>T (p.Gln1043Leu)
c.3023A>T (p.Gln1008Leu)
c.2969A>T (p.Gln990Leu)
c.3047A>T (p.Gln1016Leu)
c.2798A>T (p.Gln933Leu)
c.3029A>T (p.Gln1010Leu)
c.1955A>T (p.Gln652Leu)
n.3010A>T
1g.151405880T>CCA341945225POGZc.3203A>G (p.Gln1068Arg)
c.2996A>G (p.Gln999Arg)
c.3155A>G (p.Gln1052Arg)
c.3176A>G (p.Gln1059Arg)
n.3303A>G
c.2870A>G (p.Gln957Arg)
c.3128A>G (p.Gln1043Arg)
c.3023A>G (p.Gln1008Arg)
c.2969A>G (p.Gln990Arg)
c.3047A>G (p.Gln1016Arg)
c.2798A>G (p.Gln933Arg)
c.3029A>G (p.Gln1010Arg)
c.1955A>G (p.Gln652Arg)
n.3010A>G
1g.151405880T>GCA341945230POGZc.3203A>C (p.Gln1068Pro)
c.2996A>C (p.Gln999Pro)
c.3155A>C (p.Gln1052Pro)
c.3176A>C (p.Gln1059Pro)
n.3303A>C
c.2870A>C (p.Gln957Pro)
c.3128A>C (p.Gln1043Pro)
c.3023A>C (p.Gln1008Pro)
c.2969A>C (p.Gln990Pro)
c.3047A>C (p.Gln1016Pro)
c.2798A>C (p.Gln933Pro)
c.3029A>C (p.Gln1010Pro)
c.1955A>C (p.Gln652Pro)
n.3010A>C
1g.151405881G>ACA341945239POGZc.3202C>T (p.Gln1068Ter)
c.2995C>T (p.Gln999Ter)
c.3154C>T (p.Gln1052Ter)
c.3175C>T (p.Gln1059Ter)
n.3302C>T
c.2869C>T (p.Gln957Ter)
c.3127C>T (p.Gln1043Ter)
c.3022C>T (p.Gln1008Ter)
c.2968C>T (p.Gln990Ter)
c.3046C>T (p.Gln1016Ter)
c.2797C>T (p.Gln933Ter)
c.3028C>T (p.Gln1010Ter)
c.1954C>T (p.Gln652Ter)
n.3009C>T
1g.151405881G>CCA341945240POGZc.3202C>G (p.Gln1068Glu)
c.2995C>G (p.Gln999Glu)
c.3154C>G (p.Gln1052Glu)
c.3175C>G (p.Gln1059Glu)
n.3302C>G
c.2869C>G (p.Gln957Glu)
c.3127C>G (p.Gln1043Glu)
c.3022C>G (p.Gln1008Glu)
c.2968C>G (p.Gln990Glu)
c.3046C>G (p.Gln1016Glu)
c.2797C>G (p.Gln933Glu)
c.3028C>G (p.Gln1010Glu)
c.1954C>G (p.Gln652Glu)
n.3009C>G
1g.151405881G>TCA341945241POGZc.3202C>A (p.Gln1068Lys)
c.2995C>A (p.Gln999Lys)
c.3154C>A (p.Gln1052Lys)
c.3175C>A (p.Gln1059Lys)
n.3302C>A
c.2869C>A (p.Gln957Lys)
c.3127C>A (p.Gln1043Lys)
c.3022C>A (p.Gln1008Lys)
c.2968C>A (p.Gln990Lys)
c.3046C>A (p.Gln1016Lys)
c.2797C>A (p.Gln933Lys)
c.3028C>A (p.Gln1010Lys)
c.1954C>A (p.Gln652Lys)
n.3009C>A
1g.151405882G>ACA420909534POGZc.3201C>T (p.Phe1067=)
c.2994C>T (p.Phe998=)
c.3153C>T (p.Phe1051=)
c.3174C>T (p.Phe1058=)
n.3301C>T
c.2868C>T (p.Phe956=)
c.3126C>T (p.Phe1042=)
c.3021C>T (p.Phe1007=)
c.2967C>T (p.Phe989=)
c.3045C>T (p.Phe1015=)
c.2796C>T (p.Phe932=)
c.3027C>T (p.Phe1009=)
c.1953C>T (p.Phe651=)
n.3008C>T
COSMIC COSMIC
1g.151405882G>CCA341945242POGZc.3201C>G (p.Phe1067Leu)
c.2994C>G (p.Phe998Leu)
c.3153C>G (p.Phe1051Leu)
c.3174C>G (p.Phe1058Leu)
n.3301C>G
c.2868C>G (p.Phe956Leu)
c.3126C>G (p.Phe1042Leu)
c.3021C>G (p.Phe1007Leu)
c.2967C>G (p.Phe989Leu)
c.3045C>G (p.Phe1015Leu)
c.2796C>G (p.Phe932Leu)
c.3027C>G (p.Phe1009Leu)
c.1953C>G (p.Phe651Leu)
n.3008C>G
dbSNP gnomAD v2 gnomAD v4
1g.151405882G=CA2479570451POGZc.3201C= (p.Phe1067=)
c.2994C= (p.Phe998=)
c.3153C= (p.Phe1051=)
c.3174C= (p.Phe1058=)
n.3301C=
c.2868C= (p.Phe956=)
c.3126C= (p.Phe1042=)
c.3021C= (p.Phe1007=)
c.2967C= (p.Phe989=)
c.3045C= (p.Phe1015=)
c.2796C= (p.Phe932=)
c.3027C= (p.Phe1009=)
c.1953C= (p.Phe651=)
n.3008C=
1g.151405882G>TCA341945244POGZc.3201C>A (p.Phe1067Leu)
c.2994C>A (p.Phe998Leu)
c.3153C>A (p.Phe1051Leu)
c.3174C>A (p.Phe1058Leu)
n.3301C>A
c.2868C>A (p.Phe956Leu)
c.3126C>A (p.Phe1042Leu)
c.3021C>A (p.Phe1007Leu)
c.2967C>A (p.Phe989Leu)
c.3045C>A (p.Phe1015Leu)
c.2796C>A (p.Phe932Leu)
c.3027C>A (p.Phe1009Leu)
c.1953C>A (p.Phe651Leu)
n.3008C>A
1g.151405883A>CCA341945247POGZc.3200T>G (p.Phe1067Cys)
c.2993T>G (p.Phe998Cys)
c.3152T>G (p.Phe1051Cys)
c.3173T>G (p.Phe1058Cys)
n.3300T>G
c.2867T>G (p.Phe956Cys)
c.3125T>G (p.Phe1042Cys)
c.3020T>G (p.Phe1007Cys)
c.2966T>G (p.Phe989Cys)
c.3044T>G (p.Phe1015Cys)
c.2795T>G (p.Phe932Cys)
c.3026T>G (p.Phe1009Cys)
c.1952T>G (p.Phe651Cys)
n.3007T>G
1g.151405883A>GCA341945250POGZc.3200T>C (p.Phe1067Ser)
c.2993T>C (p.Phe998Ser)
c.3152T>C (p.Phe1051Ser)
c.3173T>C (p.Phe1058Ser)
n.3300T>C
c.2867T>C (p.Phe956Ser)
c.3125T>C (p.Phe1042Ser)
c.3020T>C (p.Phe1007Ser)
c.2966T>C (p.Phe989Ser)
c.3044T>C (p.Phe1015Ser)
c.2795T>C (p.Phe932Ser)
c.3026T>C (p.Phe1009Ser)
c.1952T>C (p.Phe651Ser)
n.3007T>C
1g.151405883A>TCA341945252POGZc.3200T>A (p.Phe1067Tyr)
c.2993T>A (p.Phe998Tyr)
c.3152T>A (p.Phe1051Tyr)
c.3173T>A (p.Phe1058Tyr)
n.3300T>A
c.2867T>A (p.Phe956Tyr)
c.3125T>A (p.Phe1042Tyr)
c.3020T>A (p.Phe1007Tyr)
c.2966T>A (p.Phe989Tyr)
c.3044T>A (p.Phe1015Tyr)
c.2795T>A (p.Phe932Tyr)
c.3026T>A (p.Phe1009Tyr)
c.1952T>A (p.Phe651Tyr)
n.3007T>A
1g.151405884A>CCA341945258POGZc.3199T>G (p.Phe1067Val)
c.2992T>G (p.Phe998Val)
c.3151T>G (p.Phe1051Val)
c.3172T>G (p.Phe1058Val)
n.3299T>G
c.2866T>G (p.Phe956Val)
c.3124T>G (p.Phe1042Val)
c.3019T>G (p.Phe1007Val)
c.2965T>G (p.Phe989Val)
c.3043T>G (p.Phe1015Val)
c.2794T>G (p.Phe932Val)
c.3025T>G (p.Phe1009Val)
c.1951T>G (p.Phe651Val)
n.3006T>G
1g.151405884A>GCA341945260POGZc.3199T>C (p.Phe1067Leu)
c.2992T>C (p.Phe998Leu)
c.3151T>C (p.Phe1051Leu)
c.3172T>C (p.Phe1058Leu)
n.3299T>C
c.2866T>C (p.Phe956Leu)
c.3124T>C (p.Phe1042Leu)
c.3019T>C (p.Phe1007Leu)
c.2965T>C (p.Phe989Leu)
c.3043T>C (p.Phe1015Leu)
c.2794T>C (p.Phe932Leu)
c.3025T>C (p.Phe1009Leu)
c.1951T>C (p.Phe651Leu)
n.3006T>C
1g.151405884A>TCA341945264POGZc.3199T>A (p.Phe1067Ile)
c.2992T>A (p.Phe998Ile)
c.3151T>A (p.Phe1051Ile)
c.3172T>A (p.Phe1058Ile)
n.3299T>A
c.2866T>A (p.Phe956Ile)
c.3124T>A (p.Phe1042Ile)
c.3019T>A (p.Phe1007Ile)
c.2965T>A (p.Phe989Ile)
c.3043T>A (p.Phe1015Ile)
c.2794T>A (p.Phe932Ile)
c.3025T>A (p.Phe1009Ile)
c.1951T>A (p.Phe651Ile)
n.3006T>A
1g.151405885C>ACA341945265POGZc.3198G>T (p.Leu1066Phe)
c.2991G>T (p.Leu997Phe)
c.3150G>T (p.Leu1050Phe)
c.3171G>T (p.Leu1057Phe)
n.3298G>T
c.2865G>T (p.Leu955Phe)
c.3123G>T (p.Leu1041Phe)
c.3018G>T (p.Leu1006Phe)
c.2964G>T (p.Leu988Phe)
c.3042G>T (p.Leu1014Phe)
c.2793G>T (p.Leu931Phe)
c.3024G>T (p.Leu1008Phe)
c.1950G>T (p.Leu650Phe)
n.3005G>T
1g.151405885C>GCA341945266POGZc.3198G>C (p.Leu1066Phe)
c.2991G>C (p.Leu997Phe)
c.3150G>C (p.Leu1050Phe)
c.3171G>C (p.Leu1057Phe)
n.3298G>C
c.2865G>C (p.Leu955Phe)
c.3123G>C (p.Leu1041Phe)
c.3018G>C (p.Leu1006Phe)
c.2964G>C (p.Leu988Phe)
c.3042G>C (p.Leu1014Phe)
c.2793G>C (p.Leu931Phe)
c.3024G>C (p.Leu1008Phe)
c.1950G>C (p.Leu650Phe)
n.3005G>C
gnomAD v4
1g.151405885C>TCA420909535POGZc.3198G>A (p.Leu1066=)
c.2991G>A (p.Leu997=)
c.3150G>A (p.Leu1050=)
c.3171G>A (p.Leu1057=)
n.3298G>A
c.2865G>A (p.Leu955=)
c.3123G>A (p.Leu1041=)
c.3018G>A (p.Leu1006=)
c.2964G>A (p.Leu988=)
c.3042G>A (p.Leu1014=)
c.2793G>A (p.Leu931=)
c.3024G>A (p.Leu1008=)
c.1950G>A (p.Leu650=)
n.3005G>A
1g.151405886A>CCA341945273POGZc.3197T>G (p.Leu1066Trp)
c.2990T>G (p.Leu997Trp)
c.3149T>G (p.Leu1050Trp)
c.3170T>G (p.Leu1057Trp)
n.3297T>G
c.2864T>G (p.Leu955Trp)
c.3122T>G (p.Leu1041Trp)
c.3017T>G (p.Leu1006Trp)
c.2963T>G (p.Leu988Trp)
c.3041T>G (p.Leu1014Trp)
c.2792T>G (p.Leu931Trp)
c.3023T>G (p.Leu1008Trp)
c.1949T>G (p.Leu650Trp)
n.3004T>G
1g.151405886A>GCA341945277POGZc.3197T>C (p.Leu1066Ser)
c.2990T>C (p.Leu997Ser)
c.3149T>C (p.Leu1050Ser)
c.3170T>C (p.Leu1057Ser)
n.3297T>C
c.2864T>C (p.Leu955Ser)
c.3122T>C (p.Leu1041Ser)
c.3017T>C (p.Leu1006Ser)
c.2963T>C (p.Leu988Ser)
c.3041T>C (p.Leu1014Ser)
c.2792T>C (p.Leu931Ser)
c.3023T>C (p.Leu1008Ser)
c.1949T>C (p.Leu650Ser)
n.3004T>C
1g.151405886A>TCA341945268POGZc.3197T>A (p.Leu1066Ter)
c.2990T>A (p.Leu997Ter)
c.3149T>A (p.Leu1050Ter)
c.3170T>A (p.Leu1057Ter)
n.3297T>A
c.2864T>A (p.Leu955Ter)
c.3122T>A (p.Leu1041Ter)
c.3017T>A (p.Leu1006Ter)
c.2963T>A (p.Leu988Ter)
c.3041T>A (p.Leu1014Ter)
c.2792T>A (p.Leu931Ter)
c.3023T>A (p.Leu1008Ter)
c.1949T>A (p.Leu650Ter)
n.3004T>A
1g.151405887A>CCA341945286POGZc.3196T>G (p.Leu1066Val)
c.2989T>G (p.Leu997Val)
c.3148T>G (p.Leu1050Val)
c.3169T>G (p.Leu1057Val)
n.3296T>G
c.2863T>G (p.Leu955Val)
c.3121T>G (p.Leu1041Val)
c.3016T>G (p.Leu1006Val)
c.2962T>G (p.Leu988Val)
c.3040T>G (p.Leu1014Val)
c.2791T>G (p.Leu931Val)
c.3022T>G (p.Leu1008Val)
c.1948T>G (p.Leu650Val)
n.3003T>G
1g.151405887A>GCA420909537POGZc.3196T>C (p.Leu1066=)
c.2989T>C (p.Leu997=)
c.3148T>C (p.Leu1050=)
c.3169T>C (p.Leu1057=)
n.3296T>C
c.2863T>C (p.Leu955=)
c.3121T>C (p.Leu1041=)
c.3016T>C (p.Leu1006=)
c.2962T>C (p.Leu988=)
c.3040T>C (p.Leu1014=)
c.2791T>C (p.Leu931=)
c.3022T>C (p.Leu1008=)
c.1948T>C (p.Leu650=)
n.3003T>C
1g.151405887A>TCA341945280POGZc.3196T>A (p.Leu1066Met)
c.2989T>A (p.Leu997Met)
c.3148T>A (p.Leu1050Met)
c.3169T>A (p.Leu1057Met)
n.3296T>A
c.2863T>A (p.Leu955Met)
c.3121T>A (p.Leu1041Met)
c.3016T>A (p.Leu1006Met)
c.2962T>A (p.Leu988Met)
c.3040T>A (p.Leu1014Met)
c.2791T>A (p.Leu931Met)
c.3022T>A (p.Leu1008Met)
c.1948T>A (p.Leu650Met)
n.3003T>A
1g.151405888G>ACA420909538POGZc.3195C>T (p.Thr1065=)
c.2988C>T (p.Thr996=)
c.3147C>T (p.Thr1049=)
c.3168C>T (p.Thr1056=)
n.3295C>T
c.2862C>T (p.Thr954=)
c.3120C>T (p.Thr1040=)
c.3015C>T (p.Thr1005=)
c.2961C>T (p.Thr987=)
c.3039C>T (p.Thr1013=)
c.2790C>T (p.Thr930=)
c.3021C>T (p.Thr1007=)
c.1947C>T (p.Thr649=)
n.3002C>T
dbSNP gnomAD v2 gnomAD v4
1g.151405888G>CCA420909539POGZc.3195C>G (p.Thr1065=)
c.2988C>G (p.Thr996=)
c.3147C>G (p.Thr1049=)
c.3168C>G (p.Thr1056=)
n.3295C>G
c.2862C>G (p.Thr954=)
c.3120C>G (p.Thr1040=)
c.3015C>G (p.Thr1005=)
c.2961C>G (p.Thr987=)
c.3039C>G (p.Thr1013=)
c.2790C>G (p.Thr930=)
c.3021C>G (p.Thr1007=)
c.1947C>G (p.Thr649=)
n.3002C>G
1g.151405888G=CA2479570452POGZc.3195C= (p.Thr1065=)
c.2988C= (p.Thr996=)
c.3147C= (p.Thr1049=)
c.3168C= (p.Thr1056=)
n.3295C=
c.2862C= (p.Thr954=)
c.3120C= (p.Thr1040=)
c.3015C= (p.Thr1005=)
c.2961C= (p.Thr987=)
c.3039C= (p.Thr1013=)
c.2790C= (p.Thr930=)
c.3021C= (p.Thr1007=)
c.1947C= (p.Thr649=)
n.3002C=
1g.151405888G>TCA420909540POGZc.3195C>A (p.Thr1065=)
c.2988C>A (p.Thr996=)
c.3147C>A (p.Thr1049=)
c.3168C>A (p.Thr1056=)
n.3295C>A
c.2862C>A (p.Thr954=)
c.3120C>A (p.Thr1040=)
c.3015C>A (p.Thr1005=)
c.2961C>A (p.Thr987=)
c.3039C>A (p.Thr1013=)
c.2790C>A (p.Thr930=)
c.3021C>A (p.Thr1007=)
c.1947C>A (p.Thr649=)
n.3002C>A
1g.151405889G>ACA341945291POGZc.3194C>T (p.Thr1065Ile)
c.2987C>T (p.Thr996Ile)
c.3146C>T (p.Thr1049Ile)
c.3167C>T (p.Thr1056Ile)
n.3294C>T
c.2861C>T (p.Thr954Ile)
c.3119C>T (p.Thr1040Ile)
c.3014C>T (p.Thr1005Ile)
c.2960C>T (p.Thr987Ile)
c.3038C>T (p.Thr1013Ile)
c.2789C>T (p.Thr930Ile)
c.3020C>T (p.Thr1007Ile)
c.1946C>T (p.Thr649Ile)
n.3001C>T
1g.151405889G>CCA341945290POGZc.3194C>G (p.Thr1065Ser)
c.2987C>G (p.Thr996Ser)
c.3146C>G (p.Thr1049Ser)
c.3167C>G (p.Thr1056Ser)
n.3294C>G
c.2861C>G (p.Thr954Ser)
c.3119C>G (p.Thr1040Ser)
c.3014C>G (p.Thr1005Ser)
c.2960C>G (p.Thr987Ser)
c.3038C>G (p.Thr1013Ser)
c.2789C>G (p.Thr930Ser)
c.3020C>G (p.Thr1007Ser)
c.1946C>G (p.Thr649Ser)
n.3001C>G
1g.151405889G>TCA341945292POGZc.3194C>A (p.Thr1065Asn)
c.2987C>A (p.Thr996Asn)
c.3146C>A (p.Thr1049Asn)
c.3167C>A (p.Thr1056Asn)
n.3294C>A
c.2861C>A (p.Thr954Asn)
c.3119C>A (p.Thr1040Asn)
c.3014C>A (p.Thr1005Asn)
c.2960C>A (p.Thr987Asn)
c.3038C>A (p.Thr1013Asn)
c.2789C>A (p.Thr930Asn)
c.3020C>A (p.Thr1007Asn)
c.1946C>A (p.Thr649Asn)
n.3001C>A
1g.151405890T>ACA341945295POGZc.3193A>T (p.Thr1065Ser)
c.2986A>T (p.Thr996Ser)
c.3145A>T (p.Thr1049Ser)
c.3166A>T (p.Thr1056Ser)
n.3293A>T
c.2860A>T (p.Thr954Ser)
c.3118A>T (p.Thr1040Ser)
c.3013A>T (p.Thr1005Ser)
c.2959A>T (p.Thr987Ser)
c.3037A>T (p.Thr1013Ser)
c.2788A>T (p.Thr930Ser)
c.3019A>T (p.Thr1007Ser)
c.1945A>T (p.Thr649Ser)
n.3000A>T
1g.151405890T>CCA341945299POGZc.3193A>G (p.Thr1065Ala)
c.2986A>G (p.Thr996Ala)
c.3145A>G (p.Thr1049Ala)
c.3166A>G (p.Thr1056Ala)
n.3293A>G
c.2860A>G (p.Thr954Ala)
c.3118A>G (p.Thr1040Ala)
c.3013A>G (p.Thr1005Ala)
c.2959A>G (p.Thr987Ala)
c.3037A>G (p.Thr1013Ala)
c.2788A>G (p.Thr930Ala)
c.3019A>G (p.Thr1007Ala)
c.1945A>G (p.Thr649Ala)
n.3000A>G
1g.151405890T>GCA341945300POGZc.3193A>C (p.Thr1065Pro)
c.2986A>C (p.Thr996Pro)
c.3145A>C (p.Thr1049Pro)
c.3166A>C (p.Thr1056Pro)
n.3293A>C
c.2860A>C (p.Thr954Pro)
c.3118A>C (p.Thr1040Pro)
c.3013A>C (p.Thr1005Pro)
c.2959A>C (p.Thr987Pro)
c.3037A>C (p.Thr1013Pro)
c.2788A>C (p.Thr930Pro)
c.3019A>C (p.Thr1007Pro)
c.1945A>C (p.Thr649Pro)
n.3000A>C
1g.151405891C>ACA341945306POGZc.3192G>T (p.Glu1064Asp)
c.2985G>T (p.Glu995Asp)
c.3144G>T (p.Glu1048Asp)
c.3165G>T (p.Glu1055Asp)
n.3292G>T
c.2859G>T (p.Glu953Asp)
c.3117G>T (p.Glu1039Asp)
c.3012G>T (p.Glu1004Asp)
c.2958G>T (p.Glu986Asp)
c.3036G>T (p.Glu1012Asp)
c.2787G>T (p.Glu929Asp)
c.3018G>T (p.Glu1006Asp)
c.1944G>T (p.Glu648Asp)
n.2999G>T
1g.151405891C>GCA341945309POGZc.3192G>C (p.Glu1064Asp)
c.2985G>C (p.Glu995Asp)
c.3144G>C (p.Glu1048Asp)
c.3165G>C (p.Glu1055Asp)
n.3292G>C
c.2859G>C (p.Glu953Asp)
c.3117G>C (p.Glu1039Asp)
c.3012G>C (p.Glu1004Asp)
c.2958G>C (p.Glu986Asp)
c.3036G>C (p.Glu1012Asp)
c.2787G>C (p.Glu929Asp)
c.3018G>C (p.Glu1006Asp)
c.1944G>C (p.Glu648Asp)
n.2999G>C
1g.151405891C>TCA420909541POGZc.3192G>A (p.Glu1064=)
c.2985G>A (p.Glu995=)
c.3144G>A (p.Glu1048=)
c.3165G>A (p.Glu1055=)
n.3292G>A
c.2859G>A (p.Glu953=)
c.3117G>A (p.Glu1039=)
c.3012G>A (p.Glu1004=)
c.2958G>A (p.Glu986=)
c.3036G>A (p.Glu1012=)
c.2787G>A (p.Glu929=)
c.3018G>A (p.Glu1006=)
c.1944G>A (p.Glu648=)
n.2999G>A
1g.151405892T>ACA341945313POGZc.3191A>T (p.Glu1064Val)
c.2984A>T (p.Glu995Val)
c.3143A>T (p.Glu1048Val)
c.3164A>T (p.Glu1055Val)
n.3291A>T
c.2858A>T (p.Glu953Val)
c.3116A>T (p.Glu1039Val)
c.3011A>T (p.Glu1004Val)
c.2957A>T (p.Glu986Val)
c.3035A>T (p.Glu1012Val)
c.2786A>T (p.Glu929Val)
c.3017A>T (p.Glu1006Val)
c.1943A>T (p.Glu648Val)
n.2998A>T
1g.151405892T>CCA341945317POGZc.3191A>G (p.Glu1064Gly)
c.2984A>G (p.Glu995Gly)
c.3143A>G (p.Glu1048Gly)
c.3164A>G (p.Glu1055Gly)
n.3291A>G
c.2858A>G (p.Glu953Gly)
c.3116A>G (p.Glu1039Gly)
c.3011A>G (p.Glu1004Gly)
c.2957A>G (p.Glu986Gly)
c.3035A>G (p.Glu1012Gly)
c.2786A>G (p.Glu929Gly)
c.3017A>G (p.Glu1006Gly)
c.1943A>G (p.Glu648Gly)
n.2998A>G
1g.151405892T>GCA341945325POGZc.3191A>C (p.Glu1064Ala)
c.2984A>C (p.Glu995Ala)
c.3143A>C (p.Glu1048Ala)
c.3164A>C (p.Glu1055Ala)
n.3291A>C
c.2858A>C (p.Glu953Ala)
c.3116A>C (p.Glu1039Ala)
c.3011A>C (p.Glu1004Ala)
c.2957A>C (p.Glu986Ala)
c.3035A>C (p.Glu1012Ala)
c.2786A>C (p.Glu929Ala)
c.3017A>C (p.Glu1006Ala)
c.1943A>C (p.Glu648Ala)
n.2998A>C
1g.151405893C>ACA341945330POGZc.3190G>T (p.Glu1064Ter)
c.2983G>T (p.Glu995Ter)
c.3142G>T (p.Glu1048Ter)
c.3163G>T (p.Glu1055Ter)
n.3290G>T
c.2857G>T (p.Glu953Ter)
c.3115G>T (p.Glu1039Ter)
c.3010G>T (p.Glu1004Ter)
c.2956G>T (p.Glu986Ter)
c.3034G>T (p.Glu1012Ter)
c.2785G>T (p.Glu929Ter)
c.3016G>T (p.Glu1006Ter)
c.1942G>T (p.Glu648Ter)
n.2997G>T
1g.151405893C>GCA341945332POGZc.3190G>C (p.Glu1064Gln)
c.2983G>C (p.Glu995Gln)
c.3142G>C (p.Glu1048Gln)
c.3163G>C (p.Glu1055Gln)
n.3290G>C
c.2857G>C (p.Glu953Gln)
c.3115G>C (p.Glu1039Gln)
c.3010G>C (p.Glu1004Gln)
c.2956G>C (p.Glu986Gln)
c.3034G>C (p.Glu1012Gln)
c.2785G>C (p.Glu929Gln)
c.3016G>C (p.Glu1006Gln)
c.1942G>C (p.Glu648Gln)
n.2997G>C
1g.151405893C>TCA341945334POGZc.3190G>A (p.Glu1064Lys)
c.2983G>A (p.Glu995Lys)
c.3142G>A (p.Glu1048Lys)
c.3163G>A (p.Glu1055Lys)
n.3290G>A
c.2857G>A (p.Glu953Lys)
c.3115G>A (p.Glu1039Lys)
c.3010G>A (p.Glu1004Lys)
c.2956G>A (p.Glu986Lys)
c.3034G>A (p.Glu1012Lys)
c.2785G>A (p.Glu929Lys)
c.3016G>A (p.Glu1006Lys)
c.1942G>A (p.Glu648Lys)
n.2997G>A
1g.151405894C>ACA341945339POGZc.3189G>T (p.Glu1063Asp)
c.2982G>T (p.Glu994Asp)
c.3141G>T (p.Glu1047Asp)
c.3162G>T (p.Glu1054Asp)
n.3289G>T
c.2856G>T (p.Glu952Asp)
c.3114G>T (p.Glu1038Asp)
c.3009G>T (p.Glu1003Asp)
c.2955G>T (p.Glu985Asp)
c.3033G>T (p.Glu1011Asp)
c.2784G>T (p.Glu928Asp)
c.3015G>T (p.Glu1005Asp)
c.1941G>T (p.Glu647Asp)
n.2996G>T
1g.151405894C>GCA341945336POGZc.3189G>C (p.Glu1063Asp)
c.2982G>C (p.Glu994Asp)
c.3141G>C (p.Glu1047Asp)
c.3162G>C (p.Glu1054Asp)
n.3289G>C
c.2856G>C (p.Glu952Asp)
c.3114G>C (p.Glu1038Asp)
c.3009G>C (p.Glu1003Asp)
c.2955G>C (p.Glu985Asp)
c.3033G>C (p.Glu1011Asp)
c.2784G>C (p.Glu928Asp)
c.3015G>C (p.Glu1005Asp)
c.1941G>C (p.Glu647Asp)
n.2996G>C
1g.151405894C>TCA420909542POGZc.3189G>A (p.Glu1063=)
c.2982G>A (p.Glu994=)
c.3141G>A (p.Glu1047=)
c.3162G>A (p.Glu1054=)
n.3289G>A
c.2856G>A (p.Glu952=)
c.3114G>A (p.Glu1038=)
c.3009G>A (p.Glu1003=)
c.2955G>A (p.Glu985=)
c.3033G>A (p.Glu1011=)
c.2784G>A (p.Glu928=)
c.3015G>A (p.Glu1005=)
c.1941G>A (p.Glu647=)
n.2996G>A
dbSNP
1g.151405895T>ACA341945346POGZc.3188A>T (p.Glu1063Val)
c.2981A>T (p.Glu994Val)
c.3140A>T (p.Glu1047Val)
c.3161A>T (p.Glu1054Val)
n.3288A>T
c.2855A>T (p.Glu952Val)
c.3113A>T (p.Glu1038Val)
c.3008A>T (p.Glu1003Val)
c.2954A>T (p.Glu985Val)
c.3032A>T (p.Glu1011Val)
c.2783A>T (p.Glu928Val)
c.3014A>T (p.Glu1005Val)
c.1940A>T (p.Glu647Val)
n.2995A>T
1g.151405895T>CCA341945348POGZc.3188A>G (p.Glu1063Gly)
c.2981A>G (p.Glu994Gly)
c.3140A>G (p.Glu1047Gly)
c.3161A>G (p.Glu1054Gly)
n.3288A>G
c.2855A>G (p.Glu952Gly)
c.3113A>G (p.Glu1038Gly)
c.3008A>G (p.Glu1003Gly)
c.2954A>G (p.Glu985Gly)
c.3032A>G (p.Glu1011Gly)
c.2783A>G (p.Glu928Gly)
c.3014A>G (p.Glu1005Gly)
c.1940A>G (p.Glu647Gly)
n.2995A>G
1g.151405895T>GCA341945351POGZc.3188A>C (p.Glu1063Ala)
c.2981A>C (p.Glu994Ala)
c.3140A>C (p.Glu1047Ala)
c.3161A>C (p.Glu1054Ala)
n.3288A>C
c.2855A>C (p.Glu952Ala)
c.3113A>C (p.Glu1038Ala)
c.3008A>C (p.Glu1003Ala)
c.2954A>C (p.Glu985Ala)
c.3032A>C (p.Glu1011Ala)
c.2783A>C (p.Glu928Ala)
c.3014A>C (p.Glu1005Ala)
c.1940A>C (p.Glu647Ala)
n.2995A>C
1g.151405896C>ACA341945352POGZc.3187G>T (p.Glu1063Ter)
c.2980G>T (p.Glu994Ter)
c.3139G>T (p.Glu1047Ter)
c.3160G>T (p.Glu1054Ter)
n.3287G>T
c.2854G>T (p.Glu952Ter)
c.3112G>T (p.Glu1038Ter)
c.3007G>T (p.Glu1003Ter)
c.2953G>T (p.Glu985Ter)
c.3031G>T (p.Glu1011Ter)
c.2782G>T (p.Glu928Ter)
c.3013G>T (p.Glu1005Ter)
c.1939G>T (p.Glu647Ter)
n.2994G>T
1g.151405896C>GCA341945353POGZc.3187G>C (p.Glu1063Gln)
c.2980G>C (p.Glu994Gln)
c.3139G>C (p.Glu1047Gln)
c.3160G>C (p.Glu1054Gln)
n.3287G>C
c.2854G>C (p.Glu952Gln)
c.3112G>C (p.Glu1038Gln)
c.3007G>C (p.Glu1003Gln)
c.2953G>C (p.Glu985Gln)
c.3031G>C (p.Glu1011Gln)
c.2782G>C (p.Glu928Gln)
c.3013G>C (p.Glu1005Gln)
c.1939G>C (p.Glu647Gln)
n.2994G>C
1g.151405896C>TCA341945354POGZc.3187G>A (p.Glu1063Lys)
c.2980G>A (p.Glu994Lys)
c.3139G>A (p.Glu1047Lys)
c.3160G>A (p.Glu1054Lys)
n.3287G>A
c.2854G>A (p.Glu952Lys)
c.3112G>A (p.Glu1038Lys)
c.3007G>A (p.Glu1003Lys)
c.2953G>A (p.Glu985Lys)
c.3031G>A (p.Glu1011Lys)
c.2782G>A (p.Glu928Lys)
c.3013G>A (p.Glu1005Lys)
c.1939G>A (p.Glu647Lys)
n.2994G>A
1g.151405897A>CCA341945358POGZc.3186T>G (p.Asn1062Lys)
c.2979T>G (p.Asn993Lys)
c.3138T>G (p.Asn1046Lys)
c.3159T>G (p.Asn1053Lys)
n.3286T>G
c.2853T>G (p.Asn951Lys)
c.3111T>G (p.Asn1037Lys)
c.3006T>G (p.Asn1002Lys)
c.2952T>G (p.Asn984Lys)
c.3030T>G (p.Asn1010Lys)
c.2781T>G (p.Asn927Lys)
c.3012T>G (p.Asn1004Lys)
c.1938T>G (p.Asn646Lys)
n.2993T>G
1g.151405897A>GCA420909544POGZc.3186T>C (p.Asn1062=)
c.2979T>C (p.Asn993=)
c.3138T>C (p.Asn1046=)
c.3159T>C (p.Asn1053=)
n.3286T>C
c.2853T>C (p.Asn951=)
c.3111T>C (p.Asn1037=)
c.3006T>C (p.Asn1002=)
c.2952T>C (p.Asn984=)
c.3030T>C (p.Asn1010=)
c.2781T>C (p.Asn927=)
c.3012T>C (p.Asn1004=)
c.1938T>C (p.Asn646=)
n.2993T>C
1g.151405897A>TCA341945359POGZc.3186T>A (p.Asn1062Lys)
c.2979T>A (p.Asn993Lys)
c.3138T>A (p.Asn1046Lys)
c.3159T>A (p.Asn1053Lys)
n.3286T>A
c.2853T>A (p.Asn951Lys)
c.3111T>A (p.Asn1037Lys)
c.3006T>A (p.Asn1002Lys)
c.2952T>A (p.Asn984Lys)
c.3030T>A (p.Asn1010Lys)
c.2781T>A (p.Asn927Lys)
c.3012T>A (p.Asn1004Lys)
c.1938T>A (p.Asn646Lys)
n.2993T>A
1g.151405898T>ACA341945362POGZc.3185A>T (p.Asn1062Ile)
c.2978A>T (p.Asn993Ile)
c.3137A>T (p.Asn1046Ile)
c.3158A>T (p.Asn1053Ile)
n.3285A>T
c.2852A>T (p.Asn951Ile)
c.3110A>T (p.Asn1037Ile)
c.3005A>T (p.Asn1002Ile)
c.2951A>T (p.Asn984Ile)
c.3029A>T (p.Asn1010Ile)
c.2780A>T (p.Asn927Ile)
c.3011A>T (p.Asn1004Ile)
c.1937A>T (p.Asn646Ile)
n.2992A>T
1g.151405898T>CCA341945365POGZc.3185A>G (p.Asn1062Ser)
c.2978A>G (p.Asn993Ser)
c.3137A>G (p.Asn1046Ser)
c.3158A>G (p.Asn1053Ser)
n.3285A>G
c.2852A>G (p.Asn951Ser)
c.3110A>G (p.Asn1037Ser)
c.3005A>G (p.Asn1002Ser)
c.2951A>G (p.Asn984Ser)
c.3029A>G (p.Asn1010Ser)
c.2780A>G (p.Asn927Ser)
c.3011A>G (p.Asn1004Ser)
c.1937A>G (p.Asn646Ser)
n.2992A>G
1g.151405898T>GCA341945367POGZc.3185A>C (p.Asn1062Thr)
c.2978A>C (p.Asn993Thr)
c.3137A>C (p.Asn1046Thr)
c.3158A>C (p.Asn1053Thr)
n.3285A>C
c.2852A>C (p.Asn951Thr)
c.3110A>C (p.Asn1037Thr)
c.3005A>C (p.Asn1002Thr)
c.2951A>C (p.Asn984Thr)
c.3029A>C (p.Asn1010Thr)
c.2780A>C (p.Asn927Thr)
c.3011A>C (p.Asn1004Thr)
c.1937A>C (p.Asn646Thr)
n.2992A>C
1g.151405899T>ACA341945374POGZc.3184A>T (p.Asn1062Tyr)
c.2977A>T (p.Asn993Tyr)
c.3136A>T (p.Asn1046Tyr)
c.3157A>T (p.Asn1053Tyr)
n.3284A>T
c.2851A>T (p.Asn951Tyr)
c.3109A>T (p.Asn1037Tyr)
c.3004A>T (p.Asn1002Tyr)
c.2950A>T (p.Asn984Tyr)
c.3028A>T (p.Asn1010Tyr)
c.2779A>T (p.Asn927Tyr)
c.3010A>T (p.Asn1004Tyr)
c.1936A>T (p.Asn646Tyr)
n.2991A>T
1g.151405899T>CCA341945378POGZc.3184A>G (p.Asn1062Asp)
c.2977A>G (p.Asn993Asp)
c.3136A>G (p.Asn1046Asp)
c.3157A>G (p.Asn1053Asp)
n.3284A>G
c.2851A>G (p.Asn951Asp)
c.3109A>G (p.Asn1037Asp)
c.3004A>G (p.Asn1002Asp)
c.2950A>G (p.Asn984Asp)
c.3028A>G (p.Asn1010Asp)
c.2779A>G (p.Asn927Asp)
c.3010A>G (p.Asn1004Asp)
c.1936A>G (p.Asn646Asp)
n.2991A>G
1g.151405899T>GCA341945372POGZc.3184A>C (p.Asn1062His)
c.2977A>C (p.Asn993His)
c.3136A>C (p.Asn1046His)
c.3157A>C (p.Asn1053His)
n.3284A>C
c.2851A>C (p.Asn951His)
c.3109A>C (p.Asn1037His)
c.3004A>C (p.Asn1002His)
c.2950A>C (p.Asn984His)
c.3028A>C (p.Asn1010His)
c.2779A>C (p.Asn927His)
c.3010A>C (p.Asn1004His)
c.1936A>C (p.Asn646His)
n.2991A>C
1g.151405900T>ACA420909545POGZc.3183A>T (p.Val1061=)
c.2976A>T (p.Val992=)
c.3135A>T (p.Val1045=)
c.3156A>T (p.Val1052=)
n.3283A>T
c.2850A>T (p.Val950=)
c.3108A>T (p.Val1036=)
c.3003A>T (p.Val1001=)
c.2949A>T (p.Val983=)
c.3027A>T (p.Val1009=)
c.2778A>T (p.Val926=)
c.3009A>T (p.Val1003=)
c.1935A>T (p.Val645=)
n.2990A>T
1g.151405900T>CCA420909547POGZc.3183A>G (p.Val1061=)
c.2976A>G (p.Val992=)
c.3135A>G (p.Val1045=)
c.3156A>G (p.Val1052=)
n.3283A>G
c.2850A>G (p.Val950=)
c.3108A>G (p.Val1036=)
c.3003A>G (p.Val1001=)
c.2949A>G (p.Val983=)
c.3027A>G (p.Val1009=)
c.2778A>G (p.Val926=)
c.3009A>G (p.Val1003=)
c.1935A>G (p.Val645=)
n.2990A>G
COSMIC COSMIC
1g.151405900T>GCA420909546POGZc.3183A>C (p.Val1061=)
c.2976A>C (p.Val992=)
c.3135A>C (p.Val1045=)
c.3156A>C (p.Val1052=)
n.3283A>C
c.2850A>C (p.Val950=)
c.3108A>C (p.Val1036=)
c.3003A>C (p.Val1001=)
c.2949A>C (p.Val983=)
c.3027A>C (p.Val1009=)
c.2778A>C (p.Val926=)
c.3009A>C (p.Val1003=)
c.1935A>C (p.Val645=)
n.2990A>C
1g.151405901A>CCA341945385POGZc.3182T>G (p.Val1061Gly)
c.2975T>G (p.Val992Gly)
c.3134T>G (p.Val1045Gly)
c.3155T>G (p.Val1052Gly)
n.3282T>G
c.2849T>G (p.Val950Gly)
c.3107T>G (p.Val1036Gly)
c.3002T>G (p.Val1001Gly)
c.2948T>G (p.Val983Gly)
c.3026T>G (p.Val1009Gly)
c.2777T>G (p.Val926Gly)
c.3008T>G (p.Val1003Gly)
c.1934T>G (p.Val645Gly)
n.2989T>G
1g.151405901A>GCA341945387POGZc.3182T>C (p.Val1061Ala)
c.2975T>C (p.Val992Ala)
c.3134T>C (p.Val1045Ala)
c.3155T>C (p.Val1052Ala)
n.3282T>C
c.2849T>C (p.Val950Ala)
c.3107T>C (p.Val1036Ala)
c.3002T>C (p.Val1001Ala)
c.2948T>C (p.Val983Ala)
c.3026T>C (p.Val1009Ala)
c.2777T>C (p.Val926Ala)
c.3008T>C (p.Val1003Ala)
c.1934T>C (p.Val645Ala)
n.2989T>C
1g.151405901A>TCA341945391POGZc.3182T>A (p.Val1061Glu)
c.2975T>A (p.Val992Glu)
c.3134T>A (p.Val1045Glu)
c.3155T>A (p.Val1052Glu)
n.3282T>A
c.2849T>A (p.Val950Glu)
c.3107T>A (p.Val1036Glu)
c.3002T>A (p.Val1001Glu)
c.2948T>A (p.Val983Glu)
c.3026T>A (p.Val1009Glu)
c.2777T>A (p.Val926Glu)
c.3008T>A (p.Val1003Glu)
c.1934T>A (p.Val645Glu)
n.2989T>A
1g.151405902C>ACA341945396POGZc.3181G>T (p.Val1061Leu)
c.2974G>T (p.Val992Leu)
c.3133G>T (p.Val1045Leu)
c.3154G>T (p.Val1052Leu)
n.3281G>T
c.2848G>T (p.Val950Leu)
c.3106G>T (p.Val1036Leu)
c.3001G>T (p.Val1001Leu)
c.2947G>T (p.Val983Leu)
c.3025G>T (p.Val1009Leu)
c.2776G>T (p.Val926Leu)
c.3007G>T (p.Val1003Leu)
c.1933G>T (p.Val645Leu)
n.2988G>T
1g.151405902C>GCA341945399POGZc.3181G>C (p.Val1061Leu)
c.2974G>C (p.Val992Leu)
c.3133G>C (p.Val1045Leu)
c.3154G>C (p.Val1052Leu)
n.3281G>C
c.2848G>C (p.Val950Leu)
c.3106G>C (p.Val1036Leu)
c.3001G>C (p.Val1001Leu)
c.2947G>C (p.Val983Leu)
c.3025G>C (p.Val1009Leu)
c.2776G>C (p.Val926Leu)
c.3007G>C (p.Val1003Leu)
c.1933G>C (p.Val645Leu)
n.2988G>C
1g.151405902C>TCA341945412POGZc.3181G>A (p.Val1061Ile)
c.2974G>A (p.Val992Ile)
c.3133G>A (p.Val1045Ile)
c.3154G>A (p.Val1052Ile)
n.3281G>A
c.2848G>A (p.Val950Ile)
c.3106G>A (p.Val1036Ile)
c.3001G>A (p.Val1001Ile)
c.2947G>A (p.Val983Ile)
c.3025G>A (p.Val1009Ile)
c.2776G>A (p.Val926Ile)
c.3007G>A (p.Val1003Ile)
c.1933G>A (p.Val645Ile)
n.2988G>A
gnomAD v4
1g.151405903A>CCA420909549POGZc.3180T>G (p.Pro1060=)
c.2973T>G (p.Pro991=)
c.3132T>G (p.Pro1044=)
c.3153T>G (p.Pro1051=)
n.3280T>G
c.2847T>G (p.Pro949=)
c.3105T>G (p.Pro1035=)
c.3000T>G (p.Pro1000=)
c.2946T>G (p.Pro982=)
c.3024T>G (p.Pro1008=)
c.2775T>G (p.Pro925=)
c.3006T>G (p.Pro1002=)
c.1932T>G (p.Pro644=)
n.2987T>G
1g.151405903A>GCA420909550POGZc.3180T>C (p.Pro1060=)
c.2973T>C (p.Pro991=)
c.3132T>C (p.Pro1044=)
c.3153T>C (p.Pro1051=)
n.3280T>C
c.2847T>C (p.Pro949=)
c.3105T>C (p.Pro1035=)
c.3000T>C (p.Pro1000=)
c.2946T>C (p.Pro982=)
c.3024T>C (p.Pro1008=)
c.2775T>C (p.Pro925=)
c.3006T>C (p.Pro1002=)
c.1932T>C (p.Pro644=)
n.2987T>C
1g.151405903A>TCA420909551POGZc.3180T>A (p.Pro1060=)
c.2973T>A (p.Pro991=)
c.3132T>A (p.Pro1044=)
c.3153T>A (p.Pro1051=)
n.3280T>A
c.2847T>A (p.Pro949=)
c.3105T>A (p.Pro1035=)
c.3000T>A (p.Pro1000=)
c.2946T>A (p.Pro982=)
c.3024T>A (p.Pro1008=)
c.2775T>A (p.Pro925=)
c.3006T>A (p.Pro1002=)
c.1932T>A (p.Pro644=)
n.2987T>A
1g.151405904G>ACA341945416POGZc.3179C>T (p.Pro1060Leu)
c.2972C>T (p.Pro991Leu)
c.3131C>T (p.Pro1044Leu)
c.3152C>T (p.Pro1051Leu)
n.3279C>T
c.2846C>T (p.Pro949Leu)
c.3104C>T (p.Pro1035Leu)
c.2999C>T (p.Pro1000Leu)
c.2945C>T (p.Pro982Leu)
c.3023C>T (p.Pro1008Leu)
c.2774C>T (p.Pro925Leu)
c.3005C>T (p.Pro1002Leu)
c.1931C>T (p.Pro644Leu)
n.2986C>T
gnomAD v4
1g.151405904G>CCA341945422POGZc.3179C>G (p.Pro1060Arg)
c.2972C>G (p.Pro991Arg)
c.3131C>G (p.Pro1044Arg)
c.3152C>G (p.Pro1051Arg)
n.3279C>G
c.2846C>G (p.Pro949Arg)
c.3104C>G (p.Pro1035Arg)
c.2999C>G (p.Pro1000Arg)
c.2945C>G (p.Pro982Arg)
c.3023C>G (p.Pro1008Arg)
c.2774C>G (p.Pro925Arg)
c.3005C>G (p.Pro1002Arg)
c.1931C>G (p.Pro644Arg)
n.2986C>G
1g.151405904G>TCA341945418POGZc.3179C>A (p.Pro1060His)
c.2972C>A (p.Pro991His)
c.3131C>A (p.Pro1044His)
c.3152C>A (p.Pro1051His)
n.3279C>A
c.2846C>A (p.Pro949His)
c.3104C>A (p.Pro1035His)
c.2999C>A (p.Pro1000His)
c.2945C>A (p.Pro982His)
c.3023C>A (p.Pro1008His)
c.2774C>A (p.Pro925His)
c.3005C>A (p.Pro1002His)
c.1931C>A (p.Pro644His)
n.2986C>A
1g.151405905G>ACA341945425POGZc.3178C>T (p.Pro1060Ser)
c.2971C>T (p.Pro991Ser)
c.3130C>T (p.Pro1044Ser)
c.3151C>T (p.Pro1051Ser)
n.3278C>T
c.2845C>T (p.Pro949Ser)
c.3103C>T (p.Pro1035Ser)
c.2998C>T (p.Pro1000Ser)
c.2944C>T (p.Pro982Ser)
c.3022C>T (p.Pro1008Ser)
c.2773C>T (p.Pro925Ser)
c.3004C>T (p.Pro1002Ser)
c.1930C>T (p.Pro644Ser)
n.2985C>T
gnomAD v4
1g.151405905G>CCA341945429POGZc.3178C>G (p.Pro1060Ala)
c.2971C>G (p.Pro991Ala)
c.3130C>G (p.Pro1044Ala)
c.3151C>G (p.Pro1051Ala)
n.3278C>G
c.2845C>G (p.Pro949Ala)
c.3103C>G (p.Pro1035Ala)
c.2998C>G (p.Pro1000Ala)
c.2944C>G (p.Pro982Ala)
c.3022C>G (p.Pro1008Ala)
c.2773C>G (p.Pro925Ala)
c.3004C>G (p.Pro1002Ala)
c.1930C>G (p.Pro644Ala)
n.2985C>G
1g.151405905G>TCA341945432POGZc.3178C>A (p.Pro1060Thr)
c.2971C>A (p.Pro991Thr)
c.3130C>A (p.Pro1044Thr)
c.3151C>A (p.Pro1051Thr)
n.3278C>A
c.2845C>A (p.Pro949Thr)
c.3103C>A (p.Pro1035Thr)
c.2998C>A (p.Pro1000Thr)
c.2944C>A (p.Pro982Thr)
c.3022C>A (p.Pro1008Thr)
c.2773C>A (p.Pro925Thr)
c.3004C>A (p.Pro1002Thr)
c.1930C>A (p.Pro644Thr)
n.2985C>A
1g.151405906T>ACA420909552POGZc.3177A>T (p.Leu1059=)
c.2970A>T (p.Leu990=)
c.3129A>T (p.Leu1043=)
c.3150A>T (p.Leu1050=)
n.3277A>T
c.2844A>T (p.Leu948=)
c.3102A>T (p.Leu1034=)
c.2997A>T (p.Leu999=)
c.2943A>T (p.Leu981=)
c.3021A>T (p.Leu1007=)
c.2772A>T (p.Leu924=)
c.3003A>T (p.Leu1001=)
c.1929A>T (p.Leu643=)
n.2984A>T
dbSNP gnomAD v4
1g.151405906T>CCA1091004POGZc.3177A>G (p.Leu1059=)
c.2970A>G (p.Leu990=)
c.3129A>G (p.Leu1043=)
c.3150A>G (p.Leu1050=)
n.3277A>G
c.2844A>G (p.Leu948=)
c.3102A>G (p.Leu1034=)
c.2997A>G (p.Leu999=)
c.2943A>G (p.Leu981=)
c.3021A>G (p.Leu1007=)
c.2772A>G (p.Leu924=)
c.3003A>G (p.Leu1001=)
c.1929A>G (p.Leu643=)
n.2984A>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.151405906T>GCA420909554POGZc.3177A>C (p.Leu1059=)
c.2970A>C (p.Leu990=)
c.3129A>C (p.Leu1043=)
c.3150A>C (p.Leu1050=)
n.3277A>C
c.2844A>C (p.Leu948=)
c.3102A>C (p.Leu1034=)
c.2997A>C (p.Leu999=)
c.2943A>C (p.Leu981=)
c.3021A>C (p.Leu1007=)
c.2772A>C (p.Leu924=)
c.3003A>C (p.Leu1001=)
c.1929A>C (p.Leu643=)
n.2984A>C
1g.151405906T=CA1146671174POGZc.3177A= (p.Leu1059=)
c.2970A= (p.Leu990=)
c.3129A= (p.Leu1043=)
c.3150A= (p.Leu1050=)
n.3277A=
c.2844A= (p.Leu948=)
c.3102A= (p.Leu1034=)
c.2997A= (p.Leu999=)
c.2943A= (p.Leu981=)
c.3021A= (p.Leu1007=)
c.2772A= (p.Leu924=)
c.3003A= (p.Leu1001=)
c.1929A= (p.Leu643=)
n.2984A=
1g.151405907A>CCA341945437POGZc.3176T>G (p.Leu1059Arg)
c.2969T>G (p.Leu990Arg)
c.3128T>G (p.Leu1043Arg)
c.3149T>G (p.Leu1050Arg)
n.3276T>G
c.2843T>G (p.Leu948Arg)
c.3101T>G (p.Leu1034Arg)
c.2996T>G (p.Leu999Arg)
c.2942T>G (p.Leu981Arg)
c.3020T>G (p.Leu1007Arg)
c.2771T>G (p.Leu924Arg)
c.3002T>G (p.Leu1001Arg)
c.1928T>G (p.Leu643Arg)
n.2983T>G
1g.151405907A>GCA341945446POGZc.3176T>C (p.Leu1059Pro)
c.2969T>C (p.Leu990Pro)
c.3128T>C (p.Leu1043Pro)
c.3149T>C (p.Leu1050Pro)
n.3276T>C
c.2843T>C (p.Leu948Pro)
c.3101T>C (p.Leu1034Pro)
c.2996T>C (p.Leu999Pro)
c.2942T>C (p.Leu981Pro)
c.3020T>C (p.Leu1007Pro)
c.2771T>C (p.Leu924Pro)
c.3002T>C (p.Leu1001Pro)
c.1928T>C (p.Leu643Pro)
n.2983T>C
1g.151405907A>TCA341945441POGZc.3176T>A (p.Leu1059Gln)
c.2969T>A (p.Leu990Gln)
c.3128T>A (p.Leu1043Gln)
c.3149T>A (p.Leu1050Gln)
n.3276T>A
c.2843T>A (p.Leu948Gln)
c.3101T>A (p.Leu1034Gln)
c.2996T>A (p.Leu999Gln)
c.2942T>A (p.Leu981Gln)
c.3020T>A (p.Leu1007Gln)
c.2771T>A (p.Leu924Gln)
c.3002T>A (p.Leu1001Gln)
c.1928T>A (p.Leu643Gln)
n.2983T>A
1g.151405908G>ACA420909555POGZc.3175C>T (p.Leu1059=)
c.2968C>T (p.Leu990=)
c.3127C>T (p.Leu1043=)
c.3148C>T (p.Leu1050=)
n.3275C>T
c.2842C>T (p.Leu948=)
c.3100C>T (p.Leu1034=)
c.2995C>T (p.Leu999=)
c.2941C>T (p.Leu981=)
c.3019C>T (p.Leu1007=)
c.2770C>T (p.Leu924=)
c.3001C>T (p.Leu1001=)
c.1927C>T (p.Leu643=)
n.2982C>T
1g.151405908G>CCA341945448POGZc.3175C>G (p.Leu1059Val)
c.2968C>G (p.Leu990Val)
c.3127C>G (p.Leu1043Val)
c.3148C>G (p.Leu1050Val)
n.3275C>G
c.2842C>G (p.Leu948Val)
c.3100C>G (p.Leu1034Val)
c.2995C>G (p.Leu999Val)
c.2941C>G (p.Leu981Val)
c.3019C>G (p.Leu1007Val)
c.2770C>G (p.Leu924Val)
c.3001C>G (p.Leu1001Val)
c.1927C>G (p.Leu643Val)
n.2982C>G
1g.151405908G>TCA341945451POGZc.3175C>A (p.Leu1059Ile)
c.2968C>A (p.Leu990Ile)
c.3127C>A (p.Leu1043Ile)
c.3148C>A (p.Leu1050Ile)
n.3275C>A
c.2842C>A (p.Leu948Ile)
c.3100C>A (p.Leu1034Ile)
c.2995C>A (p.Leu999Ile)
c.2941C>A (p.Leu981Ile)
c.3019C>A (p.Leu1007Ile)
c.2770C>A (p.Leu924Ile)
c.3001C>A (p.Leu1001Ile)
c.1927C>A (p.Leu643Ile)
n.2982C>A
1g.151405909C>ACA341945454POGZc.3174G>T (p.Gln1058His)
c.2967G>T (p.Gln989His)
c.3126G>T (p.Gln1042His)
c.3147G>T (p.Gln1049His)
n.3274G>T
c.2841G>T (p.Gln947His)
c.3099G>T (p.Gln1033His)
c.2994G>T (p.Gln998His)
c.2940G>T (p.Gln980His)
c.3018G>T (p.Gln1006His)
c.2769G>T (p.Gln923His)
c.3000G>T (p.Gln1000His)
c.1926G>T (p.Gln642His)
n.2981G>T
1g.151405909C>GCA341945456POGZc.3174G>C (p.Gln1058His)
c.2967G>C (p.Gln989His)
c.3126G>C (p.Gln1042His)
c.3147G>C (p.Gln1049His)
n.3274G>C
c.2841G>C (p.Gln947His)
c.3099G>C (p.Gln1033His)
c.2994G>C (p.Gln998His)
c.2940G>C (p.Gln980His)
c.3018G>C (p.Gln1006His)
c.2769G>C (p.Gln923His)
c.3000G>C (p.Gln1000His)
c.1926G>C (p.Gln642His)
n.2981G>C
1g.151405909C>TCA420909556POGZc.3174G>A (p.Gln1058=)
c.2967G>A (p.Gln989=)
c.3126G>A (p.Gln1042=)
c.3147G>A (p.Gln1049=)
n.3274G>A
c.2841G>A (p.Gln947=)
c.3099G>A (p.Gln1033=)
c.2994G>A (p.Gln998=)
c.2940G>A (p.Gln980=)
c.3018G>A (p.Gln1006=)
c.2769G>A (p.Gln923=)
c.3000G>A (p.Gln1000=)
c.1926G>A (p.Gln642=)
n.2981G>A
gnomAD v4
1g.151405910T>ACA341945462POGZc.3173A>T (p.Gln1058Leu)
c.2966A>T (p.Gln989Leu)
c.3125A>T (p.Gln1042Leu)
c.3146A>T (p.Gln1049Leu)
n.3273A>T
c.2840A>T (p.Gln947Leu)
c.3098A>T (p.Gln1033Leu)
c.2993A>T (p.Gln998Leu)
c.2939A>T (p.Gln980Leu)
c.3017A>T (p.Gln1006Leu)
c.2768A>T (p.Gln923Leu)
c.2999A>T (p.Gln1000Leu)
c.1925A>T (p.Gln642Leu)
n.2980A>T
1g.151405910T>CCA341945465POGZc.3173A>G (p.Gln1058Arg)
c.2966A>G (p.Gln989Arg)
c.3125A>G (p.Gln1042Arg)
c.3146A>G (p.Gln1049Arg)
n.3273A>G
c.2840A>G (p.Gln947Arg)
c.3098A>G (p.Gln1033Arg)
c.2993A>G (p.Gln998Arg)
c.2939A>G (p.Gln980Arg)
c.3017A>G (p.Gln1006Arg)
c.2768A>G (p.Gln923Arg)
c.2999A>G (p.Gln1000Arg)
c.1925A>G (p.Gln642Arg)
n.2980A>G
1g.151405910T>GCA341945467POGZc.3173A>C (p.Gln1058Pro)
c.2966A>C (p.Gln989Pro)
c.3125A>C (p.Gln1042Pro)
c.3146A>C (p.Gln1049Pro)
n.3273A>C
c.2840A>C (p.Gln947Pro)
c.3098A>C (p.Gln1033Pro)
c.2993A>C (p.Gln998Pro)
c.2939A>C (p.Gln980Pro)
c.3017A>C (p.Gln1006Pro)
c.2768A>C (p.Gln923Pro)
c.2999A>C (p.Gln1000Pro)
c.1925A>C (p.Gln642Pro)
n.2980A>C
1g.151405911G>ACA341945469POGZc.3172C>T (p.Gln1058Ter)
c.2965C>T (p.Gln989Ter)
c.3124C>T (p.Gln1042Ter)
c.3145C>T (p.Gln1049Ter)
n.3272C>T
c.2839C>T (p.Gln947Ter)
c.3097C>T (p.Gln1033Ter)
c.2992C>T (p.Gln998Ter)
c.2938C>T (p.Gln980Ter)
c.3016C>T (p.Gln1006Ter)
c.2767C>T (p.Gln923Ter)
c.2998C>T (p.Gln1000Ter)
c.1924C>T (p.Gln642Ter)
n.2979C>T
ClinVar
1g.151405911G>CCA341945472POGZc.3172C>G (p.Gln1058Glu)
c.2965C>G (p.Gln989Glu)
c.3124C>G (p.Gln1042Glu)
c.3145C>G (p.Gln1049Glu)
n.3272C>G
c.2839C>G (p.Gln947Glu)
c.3097C>G (p.Gln1033Glu)
c.2992C>G (p.Gln998Glu)
c.2938C>G (p.Gln980Glu)
c.3016C>G (p.Gln1006Glu)
c.2767C>G (p.Gln923Glu)
c.2998C>G (p.Gln1000Glu)
c.1924C>G (p.Gln642Glu)
n.2979C>G
dbSNP gnomAD v2 gnomAD v4
1g.151405911G=CA2479570453POGZc.3172C= (p.Gln1058=)
c.2965C= (p.Gln989=)
c.3124C= (p.Gln1042=)
c.3145C= (p.Gln1049=)
n.3272C=
c.2839C= (p.Gln947=)
c.3097C= (p.Gln1033=)
c.2992C= (p.Gln998=)
c.2938C= (p.Gln980=)
c.3016C= (p.Gln1006=)
c.2767C= (p.Gln923=)
c.2998C= (p.Gln1000=)
c.1924C= (p.Gln642=)
n.2979C=
1g.151405911G>TCA341945475POGZc.3172C>A (p.Gln1058Lys)
c.2965C>A (p.Gln989Lys)
c.3124C>A (p.Gln1042Lys)
c.3145C>A (p.Gln1049Lys)
n.3272C>A
c.2839C>A (p.Gln947Lys)
c.3097C>A (p.Gln1033Lys)
c.2992C>A (p.Gln998Lys)
c.2938C>A (p.Gln980Lys)
c.3016C>A (p.Gln1006Lys)
c.2767C>A (p.Gln923Lys)
c.2998C>A (p.Gln1000Lys)
c.1924C>A (p.Gln642Lys)
n.2979C>A
1g.151405912T>ACA341945477POGZc.3171A>T (p.Gln1057His)
c.2964A>T (p.Gln988His)
c.3123A>T (p.Gln1041His)
c.3144A>T (p.Gln1048His)
n.3271A>T
c.2838A>T (p.Gln946His)
c.3096A>T (p.Gln1032His)
c.2991A>T (p.Gln997His)
c.2937A>T (p.Gln979His)
c.3015A>T (p.Gln1005His)
c.2766A>T (p.Gln922His)
c.2997A>T (p.Gln999His)
c.1923A>T (p.Gln641His)
n.2978A>T
1g.151405912T>CCA420909560POGZc.3171A>G (p.Gln1057=)
c.2964A>G (p.Gln988=)
c.3123A>G (p.Gln1041=)
c.3144A>G (p.Gln1048=)
n.3271A>G
c.2838A>G (p.Gln946=)
c.3096A>G (p.Gln1032=)
c.2991A>G (p.Gln997=)
c.2937A>G (p.Gln979=)
c.3015A>G (p.Gln1005=)
c.2766A>G (p.Gln922=)
c.2997A>G (p.Gln999=)
c.1923A>G (p.Gln641=)
n.2978A>G
dbSNP gnomAD v3 gnomAD v4
1g.151405912T>GCA341945481POGZc.3171A>C (p.Gln1057His)
c.2964A>C (p.Gln988His)
c.3123A>C (p.Gln1041His)
c.3144A>C (p.Gln1048His)
n.3271A>C
c.2838A>C (p.Gln946His)
c.3096A>C (p.Gln1032His)
c.2991A>C (p.Gln997His)
c.2937A>C (p.Gln979His)
c.3015A>C (p.Gln1005His)
c.2766A>C (p.Gln922His)
c.2997A>C (p.Gln999His)
c.1923A>C (p.Gln641His)
n.2978A>C
1g.151405912T=CA2479570454POGZc.3171A= (p.Gln1057=)
c.2964A= (p.Gln988=)
c.3123A= (p.Gln1041=)
c.3144A= (p.Gln1048=)
n.3271A=
c.2838A= (p.Gln946=)
c.3096A= (p.Gln1032=)
c.2991A= (p.Gln997=)
c.2937A= (p.Gln979=)
c.3015A= (p.Gln1005=)
c.2766A= (p.Gln922=)
c.2997A= (p.Gln999=)
c.1923A= (p.Gln641=)
n.2978A=
1g.151405913T>ACA341945487POGZc.3170A>T (p.Gln1057Leu)
c.2963A>T (p.Gln988Leu)
c.3122A>T (p.Gln1041Leu)
c.3143A>T (p.Gln1048Leu)
n.3270A>T
c.2837A>T (p.Gln946Leu)
c.3095A>T (p.Gln1032Leu)
c.2990A>T (p.Gln997Leu)
c.2936A>T (p.Gln979Leu)
c.3014A>T (p.Gln1005Leu)
c.2765A>T (p.Gln922Leu)
c.2996A>T (p.Gln999Leu)
c.1922A>T (p.Gln641Leu)
n.2977A>T
1g.151405913T>CCA341945490POGZc.3170A>G (p.Gln1057Arg)
c.2963A>G (p.Gln988Arg)
c.3122A>G (p.Gln1041Arg)
c.3143A>G (p.Gln1048Arg)
n.3270A>G
c.2837A>G (p.Gln946Arg)
c.3095A>G (p.Gln1032Arg)
c.2990A>G (p.Gln997Arg)
c.2936A>G (p.Gln979Arg)
c.3014A>G (p.Gln1005Arg)
c.2765A>G (p.Gln922Arg)
c.2996A>G (p.Gln999Arg)
c.1922A>G (p.Gln641Arg)
n.2977A>G
1g.151405913T>GCA341945484POGZc.3170A>C (p.Gln1057Pro)
c.2963A>C (p.Gln988Pro)
c.3122A>C (p.Gln1041Pro)
c.3143A>C (p.Gln1048Pro)
n.3270A>C
c.2837A>C (p.Gln946Pro)
c.3095A>C (p.Gln1032Pro)
c.2990A>C (p.Gln997Pro)
c.2936A>C (p.Gln979Pro)
c.3014A>C (p.Gln1005Pro)
c.2765A>C (p.Gln922Pro)
c.2996A>C (p.Gln999Pro)
c.1922A>C (p.Gln641Pro)
n.2977A>C
1g.151405914G>ACA341945501POGZc.3169C>T (p.Gln1057Ter)
c.2962C>T (p.Gln988Ter)
c.3121C>T (p.Gln1041Ter)
c.3142C>T (p.Gln1048Ter)
n.3269C>T
c.2836C>T (p.Gln946Ter)
c.3094C>T (p.Gln1032Ter)
c.2989C>T (p.Gln997Ter)
c.2935C>T (p.Gln979Ter)
c.3013C>T (p.Gln1005Ter)
c.2764C>T (p.Gln922Ter)
c.2995C>T (p.Gln999Ter)
c.1921C>T (p.Gln641Ter)
n.2976C>T
ClinVar dbSNP
1g.151405914G>CCA341945494POGZc.3169C>G (p.Gln1057Glu)
c.2962C>G (p.Gln988Glu)
c.3121C>G (p.Gln1041Glu)
c.3142C>G (p.Gln1048Glu)
n.3269C>G
c.2836C>G (p.Gln946Glu)
c.3094C>G (p.Gln1032Glu)
c.2989C>G (p.Gln997Glu)
c.2935C>G (p.Gln979Glu)
c.3013C>G (p.Gln1005Glu)
c.2764C>G (p.Gln922Glu)
c.2995C>G (p.Gln999Glu)
c.1921C>G (p.Gln641Glu)
n.2976C>G
dbSNP gnomAD v4
1g.151405914G=CA2479570455POGZc.3169C= (p.Gln1057=)
c.2962C= (p.Gln988=)
c.3121C= (p.Gln1041=)
c.3142C= (p.Gln1048=)
n.3269C=
c.2836C= (p.Gln946=)
c.3094C= (p.Gln1032=)
c.2989C= (p.Gln997=)
c.2935C= (p.Gln979=)
c.3013C= (p.Gln1005=)
c.2764C= (p.Gln922=)
c.2995C= (p.Gln999=)
c.1921C= (p.Gln641=)
n.2976C=
1g.151405914G>TCA341945498POGZc.3169C>A (p.Gln1057Lys)
c.2962C>A (p.Gln988Lys)
c.3121C>A (p.Gln1041Lys)
c.3142C>A (p.Gln1048Lys)
n.3269C>A
c.2836C>A (p.Gln946Lys)
c.3094C>A (p.Gln1032Lys)
c.2989C>A (p.Gln997Lys)
c.2935C>A (p.Gln979Lys)
c.3013C>A (p.Gln1005Lys)
c.2764C>A (p.Gln922Lys)
c.2995C>A (p.Gln999Lys)
c.1921C>A (p.Gln641Lys)
n.2976C>A
1g.151405915T>ACA341945504POGZc.3168A>T (p.Glu1056Asp)
c.2961A>T (p.Glu987Asp)
c.3120A>T (p.Glu1040Asp)
c.3141A>T (p.Glu1047Asp)
n.3268A>T
c.2835A>T (p.Glu945Asp)
c.3093A>T (p.Glu1031Asp)
c.2988A>T (p.Glu996Asp)
c.2934A>T (p.Glu978Asp)
c.3012A>T (p.Glu1004Asp)
c.2763A>T (p.Glu921Asp)
c.2994A>T (p.Glu998Asp)
c.1920A>T (p.Glu640Asp)
n.2975A>T
1g.151405915T>CCA420909563POGZc.3168A>G (p.Glu1056=)
c.2961A>G (p.Glu987=)
c.3120A>G (p.Glu1040=)
c.3141A>G (p.Glu1047=)
n.3268A>G
c.2835A>G (p.Glu945=)
c.3093A>G (p.Glu1031=)
c.2988A>G (p.Glu996=)
c.2934A>G (p.Glu978=)
c.3012A>G (p.Glu1004=)
c.2763A>G (p.Glu921=)
c.2994A>G (p.Glu998=)
c.1920A>G (p.Glu640=)
n.2975A>G
1g.151405915T>GCA341945506POGZc.3168A>C (p.Glu1056Asp)
c.2961A>C (p.Glu987Asp)
c.3120A>C (p.Glu1040Asp)
c.3141A>C (p.Glu1047Asp)
n.3268A>C
c.2835A>C (p.Glu945Asp)
c.3093A>C (p.Glu1031Asp)
c.2988A>C (p.Glu996Asp)
c.2934A>C (p.Glu978Asp)
c.3012A>C (p.Glu1004Asp)
c.2763A>C (p.Glu921Asp)
c.2994A>C (p.Glu998Asp)
c.1920A>C (p.Glu640Asp)
n.2975A>C
1g.151405916T>ACA341945509POGZc.3167A>T (p.Glu1056Val)
c.2960A>T (p.Glu987Val)
c.3119A>T (p.Glu1040Val)
c.3140A>T (p.Glu1047Val)
n.3267A>T
c.2834A>T (p.Glu945Val)
c.3092A>T (p.Glu1031Val)
c.2987A>T (p.Glu996Val)
c.2933A>T (p.Glu978Val)
c.3011A>T (p.Glu1004Val)
c.2762A>T (p.Glu921Val)
c.2993A>T (p.Glu998Val)
c.1919A>T (p.Glu640Val)
n.2974A>T
1g.151405916T>CCA341945511POGZc.3167A>G (p.Glu1056Gly)
c.2960A>G (p.Glu987Gly)
c.3119A>G (p.Glu1040Gly)
c.3140A>G (p.Glu1047Gly)
n.3267A>G
c.2834A>G (p.Glu945Gly)
c.3092A>G (p.Glu1031Gly)
c.2987A>G (p.Glu996Gly)
c.2933A>G (p.Glu978Gly)
c.3011A>G (p.Glu1004Gly)
c.2762A>G (p.Glu921Gly)
c.2993A>G (p.Glu998Gly)
c.1919A>G (p.Glu640Gly)
n.2974A>G
1g.151405916T>GCA341945514POGZc.3167A>C (p.Glu1056Ala)
c.2960A>C (p.Glu987Ala)
c.3119A>C (p.Glu1040Ala)
c.3140A>C (p.Glu1047Ala)
n.3267A>C
c.2834A>C (p.Glu945Ala)
c.3092A>C (p.Glu1031Ala)
c.2987A>C (p.Glu996Ala)
c.2933A>C (p.Glu978Ala)
c.3011A>C (p.Glu1004Ala)
c.2762A>C (p.Glu921Ala)
c.2993A>C (p.Glu998Ala)
c.1919A>C (p.Glu640Ala)
n.2974A>C
1g.151405917C>ACA341945517POGZc.3166G>T (p.Glu1056Ter)
c.2959G>T (p.Glu987Ter)
c.3118G>T (p.Glu1040Ter)
c.3139G>T (p.Glu1047Ter)
n.3266G>T
c.2833G>T (p.Glu945Ter)
c.3091G>T (p.Glu1031Ter)
c.2986G>T (p.Glu996Ter)
c.2932G>T (p.Glu978Ter)
c.3010G>T (p.Glu1004Ter)
c.2761G>T (p.Glu921Ter)
c.2992G>T (p.Glu998Ter)
c.1918G>T (p.Glu640Ter)
n.2973G>T
1g.151405917C>GCA341945521POGZc.3166G>C (p.Glu1056Gln)
c.2959G>C (p.Glu987Gln)
c.3118G>C (p.Glu1040Gln)
c.3139G>C (p.Glu1047Gln)
n.3266G>C
c.2833G>C (p.Glu945Gln)
c.3091G>C (p.Glu1031Gln)
c.2986G>C (p.Glu996Gln)
c.2932G>C (p.Glu978Gln)
c.3010G>C (p.Glu1004Gln)
c.2761G>C (p.Glu921Gln)
c.2992G>C (p.Glu998Gln)
c.1918G>C (p.Glu640Gln)
n.2973G>C
1g.151405917C>TCA341945520POGZc.3166G>A (p.Glu1056Lys)
c.2959G>A (p.Glu987Lys)
c.3118G>A (p.Glu1040Lys)
c.3139G>A (p.Glu1047Lys)
n.3266G>A
c.2833G>A (p.Glu945Lys)
c.3091G>A (p.Glu1031Lys)
c.2986G>A (p.Glu996Lys)
c.2932G>A (p.Glu978Lys)
c.3010G>A (p.Glu1004Lys)
c.2761G>A (p.Glu921Lys)
c.2992G>A (p.Glu998Lys)
c.1918G>A (p.Glu640Lys)
n.2973G>A
ClinVar dbSNP
1g.151405918G>ACA1091005POGZc.3165C>T (p.Arg1055=)
c.2958C>T (p.Arg986=)
c.3117C>T (p.Arg1039=)
c.3138C>T (p.Arg1046=)
n.3265C>T
c.2832C>T (p.Arg944=)
c.3090C>T (p.Arg1030=)
c.2985C>T (p.Arg995=)
c.2931C>T (p.Arg977=)
c.3009C>T (p.Arg1003=)
c.2760C>T (p.Arg920=)
c.2991C>T (p.Arg997=)
c.1917C>T (p.Arg639=)
n.2972C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
1g.151405918G>CCA420909564POGZc.3165C>G (p.Arg1055=)
c.2958C>G (p.Arg986=)
c.3117C>G (p.Arg1039=)
c.3138C>G (p.Arg1046=)
n.3265C>G
c.2832C>G (p.Arg944=)
c.3090C>G (p.Arg1030=)
c.2985C>G (p.Arg995=)
c.2931C>G (p.Arg977=)
c.3009C>G (p.Arg1003=)
c.2760C>G (p.Arg920=)
c.2991C>G (p.Arg997=)
c.1917C>G (p.Arg639=)
n.2972C>G
1g.151405918G=CA1143791163POGZc.3165C= (p.Arg1055=)
c.2958C= (p.Arg986=)
c.3117C= (p.Arg1039=)
c.3138C= (p.Arg1046=)
n.3265C=
c.2832C= (p.Arg944=)
c.3090C= (p.Arg1030=)
c.2985C= (p.Arg995=)
c.2931C= (p.Arg977=)
c.3009C= (p.Arg1003=)
c.2760C= (p.Arg920=)
c.2991C= (p.Arg997=)
c.1917C= (p.Arg639=)
n.2972C=
1g.151405918G>TCA420909565POGZc.3165C>A (p.Arg1055=)
c.2958C>A (p.Arg986=)
c.3117C>A (p.Arg1039=)
c.3138C>A (p.Arg1046=)
n.3265C>A
c.2832C>A (p.Arg944=)
c.3090C>A (p.Arg1030=)
c.2985C>A (p.Arg995=)
c.2931C>A (p.Arg977=)
c.3009C>A (p.Arg1003=)
c.2760C>A (p.Arg920=)
c.2991C>A (p.Arg997=)
c.1917C>A (p.Arg639=)
n.2972C>A
1g.151405919C>ACA341945528POGZc.3164G>T (p.Arg1055Leu)
c.2957G>T (p.Arg986Leu)
c.3116G>T (p.Arg1039Leu)
c.3137G>T (p.Arg1046Leu)
n.3264G>T
c.2831G>T (p.Arg944Leu)
c.3089G>T (p.Arg1030Leu)
c.2984G>T (p.Arg995Leu)
c.2930G>T (p.Arg977Leu)
c.3008G>T (p.Arg1003Leu)
c.2759G>T (p.Arg920Leu)
c.2990G>T (p.Arg997Leu)
c.1916G>T (p.Arg639Leu)
n.2971G>T
1g.151405919C=CA2479570456POGZc.3164G= (p.Arg1055=)
c.2957G= (p.Arg986=)
c.3116G= (p.Arg1039=)
c.3137G= (p.Arg1046=)
n.3264G=
c.2831G= (p.Arg944=)
c.3089G= (p.Arg1030=)
c.2984G= (p.Arg995=)
c.2930G= (p.Arg977=)
c.3008G= (p.Arg1003=)
c.2759G= (p.Arg920=)
c.2990G= (p.Arg997=)
c.1916G= (p.Arg639=)
n.2971G=
1g.151405919C>GCA341945531POGZc.3164G>C (p.Arg1055Pro)
c.2957G>C (p.Arg986Pro)
c.3116G>C (p.Arg1039Pro)
c.3137G>C (p.Arg1046Pro)
n.3264G>C
c.2831G>C (p.Arg944Pro)
c.3089G>C (p.Arg1030Pro)
c.2984G>C (p.Arg995Pro)
c.2930G>C (p.Arg977Pro)
c.3008G>C (p.Arg1003Pro)
c.2759G>C (p.Arg920Pro)
c.2990G>C (p.Arg997Pro)
c.1916G>C (p.Arg639Pro)
n.2971G>C
1g.151405919C>TCA1091006POGZc.3164G>A (p.Arg1055His)
c.2957G>A (p.Arg986His)
c.3116G>A (p.Arg1039His)
c.3137G>A (p.Arg1046His)
n.3264G>A
c.2831G>A (p.Arg944His)
c.3089G>A (p.Arg1030His)
c.2984G>A (p.Arg995His)
c.2930G>A (p.Arg977His)
c.3008G>A (p.Arg1003His)
c.2759G>A (p.Arg920His)
c.2990G>A (p.Arg997His)
c.1916G>A (p.Arg639His)
n.2971G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
1g.151405920G>ACA29569062POGZc.3163C>T (p.Arg1055Cys)
c.2956C>T (p.Arg986Cys)
c.3115C>T (p.Arg1039Cys)
c.3136C>T (p.Arg1046Cys)
n.3263C>T
c.2830C>T (p.Arg944Cys)
c.3088C>T (p.Arg1030Cys)
c.2983C>T (p.Arg995Cys)
c.2929C>T (p.Arg977Cys)
c.3007C>T (p.Arg1003Cys)
c.2758C>T (p.Arg920Cys)
c.2989C>T (p.Arg997Cys)
c.1915C>T (p.Arg639Cys)
n.2970C>T
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
1g.151405920G>CCA341945541POGZc.3163C>G (p.Arg1055Gly)
c.2956C>G (p.Arg986Gly)
c.3115C>G (p.Arg1039Gly)
c.3136C>G (p.Arg1046Gly)
n.3263C>G
c.2830C>G (p.Arg944Gly)
c.3088C>G (p.Arg1030Gly)
c.2983C>G (p.Arg995Gly)
c.2929C>G (p.Arg977Gly)
c.3007C>G (p.Arg1003Gly)
c.2758C>G (p.Arg920Gly)
c.2989C>G (p.Arg997Gly)
c.1915C>G (p.Arg639Gly)
n.2970C>G
dbSNP gnomAD v4
1g.151405920G=CA2479570457POGZc.3163C= (p.Arg1055=)
c.2956C= (p.Arg986=)
c.3115C= (p.Arg1039=)
c.3136C= (p.Arg1046=)
n.3263C=
c.2830C= (p.Arg944=)
c.3088C= (p.Arg1030=)
c.2983C= (p.Arg995=)
c.2929C= (p.Arg977=)
c.3007C= (p.Arg1003=)
c.2758C= (p.Arg920=)
c.2989C= (p.Arg997=)
c.1915C= (p.Arg639=)
n.2970C=
1g.151405920G>TCA341945539POGZc.3163C>A (p.Arg1055Ser)
c.2956C>A (p.Arg986Ser)
c.3115C>A (p.Arg1039Ser)
c.3136C>A (p.Arg1046Ser)
n.3263C>A
c.2830C>A (p.Arg944Ser)
c.3088C>A (p.Arg1030Ser)
c.2983C>A (p.Arg995Ser)
c.2929C>A (p.Arg977Ser)
c.3007C>A (p.Arg1003Ser)
c.2758C>A (p.Arg920Ser)
c.2989C>A (p.Arg997Ser)
c.1915C>A (p.Arg639Ser)
n.2970C>A
1g.151405921C>ACA341945545POGZc.3162G>T (p.Gln1054His)
c.2955G>T (p.Gln985His)
c.3114G>T (p.Gln1038His)
c.3135G>T (p.Gln1045His)
n.3262G>T
c.2829G>T (p.Gln943His)
c.3087G>T (p.Gln1029His)
c.2982G>T (p.Gln994His)
c.2928G>T (p.Gln976His)
c.3006G>T (p.Gln1002His)
c.2757G>T (p.Gln919His)
c.2988G>T (p.Gln996His)
c.1914G>T (p.Gln638His)
n.2969G>T
1g.151405921C>GCA341945546POGZc.3162G>C (p.Gln1054His)
c.2955G>C (p.Gln985His)
c.3114G>C (p.Gln1038His)
c.3135G>C (p.Gln1045His)
n.3262G>C
c.2829G>C (p.Gln943His)
c.3087G>C (p.Gln1029His)
c.2982G>C (p.Gln994His)
c.2928G>C (p.Gln976His)
c.3006G>C (p.Gln1002His)
c.2757G>C (p.Gln919His)
c.2988G>C (p.Gln996His)
c.1914G>C (p.Gln638His)
n.2969G>C
1g.151405921C>TCA420909567POGZc.3162G>A (p.Gln1054=)
c.2955G>A (p.Gln985=)
c.3114G>A (p.Gln1038=)
c.3135G>A (p.Gln1045=)
n.3262G>A
c.2829G>A (p.Gln943=)
c.3087G>A (p.Gln1029=)
c.2982G>A (p.Gln994=)
c.2928G>A (p.Gln976=)
c.3006G>A (p.Gln1002=)
c.2757G>A (p.Gln919=)
c.2988G>A (p.Gln996=)
c.1914G>A (p.Gln638=)
n.2969G>A
gnomAD v4
1g.151405922T>ACA341945551POGZc.3161A>T (p.Gln1054Leu)
c.2954A>T (p.Gln985Leu)
c.3113A>T (p.Gln1038Leu)
c.3134A>T (p.Gln1045Leu)
n.3261A>T
c.2828A>T (p.Gln943Leu)
c.3086A>T (p.Gln1029Leu)
c.2981A>T (p.Gln994Leu)
c.2927A>T (p.Gln976Leu)
c.3005A>T (p.Gln1002Leu)
c.2756A>T (p.Gln919Leu)
c.2987A>T (p.Gln996Leu)
c.1913A>T (p.Gln638Leu)
n.2968A>T
1g.151405922T>CCA341945552POGZc.3161A>G (p.Gln1054Arg)
c.2954A>G (p.Gln985Arg)
c.3113A>G (p.Gln1038Arg)
c.3134A>G (p.Gln1045Arg)
n.3261A>G
c.2828A>G (p.Gln943Arg)
c.3086A>G (p.Gln1029Arg)
c.2981A>G (p.Gln994Arg)
c.2927A>G (p.Gln976Arg)
c.3005A>G (p.Gln1002Arg)
c.2756A>G (p.Gln919Arg)
c.2987A>G (p.Gln996Arg)
c.1913A>G (p.Gln638Arg)
n.2968A>G
1g.151405922T>GCA341945554POGZc.3161A>C (p.Gln1054Pro)
c.2954A>C (p.Gln985Pro)
c.3113A>C (p.Gln1038Pro)
c.3134A>C (p.Gln1045Pro)
n.3261A>C
c.2828A>C (p.Gln943Pro)
c.3086A>C (p.Gln1029Pro)
c.2981A>C (p.Gln994Pro)
c.2927A>C (p.Gln976Pro)
c.3005A>C (p.Gln1002Pro)
c.2756A>C (p.Gln919Pro)
c.2987A>C (p.Gln996Pro)
c.1913A>C (p.Gln638Pro)
n.2968A>C
1g.151405923G>ACA341945559POGZc.3160C>T (p.Gln1054Ter)
c.2953C>T (p.Gln985Ter)
c.3112C>T (p.Gln1038Ter)
c.3133C>T (p.Gln1045Ter)
n.3260C>T
c.2827C>T (p.Gln943Ter)
c.3085C>T (p.Gln1029Ter)
c.2980C>T (p.Gln994Ter)
c.2926C>T (p.Gln976Ter)
c.3004C>T (p.Gln1002Ter)
c.2755C>T (p.Gln919Ter)
c.2986C>T (p.Gln996Ter)
c.1912C>T (p.Gln638Ter)
n.2967C>T
COSMIC COSMIC
1g.151405923G>CCA341945561POGZc.3160C>G (p.Gln1054Glu)
c.2953C>G (p.Gln985Glu)
c.3112C>G (p.Gln1038Glu)
c.3133C>G (p.Gln1045Glu)
n.3260C>G
c.2827C>G (p.Gln943Glu)
c.3085C>G (p.Gln1029Glu)
c.2980C>G (p.Gln994Glu)
c.2926C>G (p.Gln976Glu)
c.3004C>G (p.Gln1002Glu)
c.2755C>G (p.Gln919Glu)
c.2986C>G (p.Gln996Glu)
c.1912C>G (p.Gln638Glu)
n.2967C>G
1g.151405923G>TCA341945563POGZc.3160C>A (p.Gln1054Lys)
c.2953C>A (p.Gln985Lys)
c.3112C>A (p.Gln1038Lys)
c.3133C>A (p.Gln1045Lys)
n.3260C>A
c.2827C>A (p.Gln943Lys)
c.3085C>A (p.Gln1029Lys)
c.2980C>A (p.Gln994Lys)
c.2926C>A (p.Gln976Lys)
c.3004C>A (p.Gln1002Lys)
c.2755C>A (p.Gln919Lys)
c.2986C>A (p.Gln996Lys)
c.1912C>A (p.Gln638Lys)
n.2967C>A
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

Number of alleles fetched