Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.151406034G>ACA353601POGZc.3049C>T (p.Arg1017Ter)
c.2842C>T (p.Arg948Ter)
c.3001C>T (p.Arg1001Ter)
c.3022C>T (p.Arg1008Ter)
n.3149C>T
c.2716C>T (p.Arg906Ter)
c.2974C>T (p.Arg992Ter)
c.2869C>T (p.Arg957Ter)
c.2815C>T (p.Arg939Ter)
c.2893C>T (p.Arg965Ter)
c.2644C>T (p.Arg882Ter)
c.2875C>T (p.Arg959Ter)
c.1801C>T (p.Arg601Ter)
n.2856C>T
 ClinVar dbSNP
1g.151406034G>CCA341946825POGZc.3049C>G (p.Arg1017Gly)
c.2842C>G (p.Arg948Gly)
c.3001C>G (p.Arg1001Gly)
c.3022C>G (p.Arg1008Gly)
n.3149C>G
c.2716C>G (p.Arg906Gly)
c.2974C>G (p.Arg992Gly)
c.2869C>G (p.Arg957Gly)
c.2815C>G (p.Arg939Gly)
c.2893C>G (p.Arg965Gly)
c.2644C>G (p.Arg882Gly)
c.2875C>G (p.Arg959Gly)
c.1801C>G (p.Arg601Gly)
n.2856C>G
1g.151406034G=CA2479570492POGZc.3049C= (p.Arg1017=)
c.2842C= (p.Arg948=)
c.3001C= (p.Arg1001=)
c.3022C= (p.Arg1008=)
n.3149C=
c.2716C= (p.Arg906=)
c.2974C= (p.Arg992=)
c.2869C= (p.Arg957=)
c.2815C= (p.Arg939=)
c.2893C= (p.Arg965=)
c.2644C= (p.Arg882=)
c.2875C= (p.Arg959=)
c.1801C= (p.Arg601=)
n.2856C=
1g.151406034G>TCA420909783POGZc.3049C>A (p.Arg1017=)
c.2842C>A (p.Arg948=)
c.3001C>A (p.Arg1001=)
c.3022C>A (p.Arg1008=)
n.3149C>A
c.2716C>A (p.Arg906=)
c.2974C>A (p.Arg992=)
c.2869C>A (p.Arg957=)
c.2815C>A (p.Arg939=)
c.2893C>A (p.Arg965=)
c.2644C>A (p.Arg882=)
c.2875C>A (p.Arg959=)
c.1801C>A (p.Arg601=)
n.2856C>A
1g.151406035C>ACA341946828POGZc.3048G>T (p.Gln1016His)
c.2841G>T (p.Gln947His)
c.3000G>T (p.Gln1000His)
c.3021G>T (p.Gln1007His)
n.3148G>T
c.2715G>T (p.Gln905His)
c.2973G>T (p.Gln991His)
c.2868G>T (p.Gln956His)
c.2814G>T (p.Gln938His)
c.2892G>T (p.Gln964His)
c.2643G>T (p.Gln881His)
c.2874G>T (p.Gln958His)
c.1800G>T (p.Gln600His)
n.2855G>T
1g.151406035C>GCA341946830POGZc.3048G>C (p.Gln1016His)
c.2841G>C (p.Gln947His)
c.3000G>C (p.Gln1000His)
c.3021G>C (p.Gln1007His)
n.3148G>C
c.2715G>C (p.Gln905His)
c.2973G>C (p.Gln991His)
c.2868G>C (p.Gln956His)
c.2814G>C (p.Gln938His)
c.2892G>C (p.Gln964His)
c.2643G>C (p.Gln881His)
c.2874G>C (p.Gln958His)
c.1800G>C (p.Gln600His)
n.2855G>C
1g.151406035C>TCA420909785POGZc.3048G>A (p.Gln1016=)
c.2841G>A (p.Gln947=)
c.3000G>A (p.Gln1000=)
c.3021G>A (p.Gln1007=)
n.3148G>A
c.2715G>A (p.Gln905=)
c.2973G>A (p.Gln991=)
c.2868G>A (p.Gln956=)
c.2814G>A (p.Gln938=)
c.2892G>A (p.Gln964=)
c.2643G>A (p.Gln881=)
c.2874G>A (p.Gln958=)
c.1800G>A (p.Gln600=)
n.2855G>A
1g.151406036T>ACA341946831POGZc.3047A>T (p.Gln1016Leu)
c.2840A>T (p.Gln947Leu)
c.2999A>T (p.Gln1000Leu)
c.3020A>T (p.Gln1007Leu)
n.3147A>T
c.2714A>T (p.Gln905Leu)
c.2972A>T (p.Gln991Leu)
c.2867A>T (p.Gln956Leu)
c.2813A>T (p.Gln938Leu)
c.2891A>T (p.Gln964Leu)
c.2642A>T (p.Gln881Leu)
c.2873A>T (p.Gln958Leu)
c.1799A>T (p.Gln600Leu)
n.2854A>T
1g.151406036T>CCA341946832POGZc.3047A>G (p.Gln1016Arg)
c.2840A>G (p.Gln947Arg)
c.2999A>G (p.Gln1000Arg)
c.3020A>G (p.Gln1007Arg)
n.3147A>G
c.2714A>G (p.Gln905Arg)
c.2972A>G (p.Gln991Arg)
c.2867A>G (p.Gln956Arg)
c.2813A>G (p.Gln938Arg)
c.2891A>G (p.Gln964Arg)
c.2642A>G (p.Gln881Arg)
c.2873A>G (p.Gln958Arg)
c.1799A>G (p.Gln600Arg)
n.2854A>G
1g.151406036T>GCA341946833POGZc.3047A>C (p.Gln1016Pro)
c.2840A>C (p.Gln947Pro)
c.2999A>C (p.Gln1000Pro)
c.3020A>C (p.Gln1007Pro)
n.3147A>C
c.2714A>C (p.Gln905Pro)
c.2972A>C (p.Gln991Pro)
c.2867A>C (p.Gln956Pro)
c.2813A>C (p.Gln938Pro)
c.2891A>C (p.Gln964Pro)
c.2642A>C (p.Gln881Pro)
c.2873A>C (p.Gln958Pro)
c.1799A>C (p.Gln600Pro)
n.2854A>C
1g.151406037G>ACA341946840POGZc.3046C>T (p.Gln1016Ter)
c.2839C>T (p.Gln947Ter)
c.2998C>T (p.Gln1000Ter)
c.3019C>T (p.Gln1007Ter)
n.3146C>T
c.2713C>T (p.Gln905Ter)
c.2971C>T (p.Gln991Ter)
c.2866C>T (p.Gln956Ter)
c.2812C>T (p.Gln938Ter)
c.2890C>T (p.Gln964Ter)
c.2641C>T (p.Gln881Ter)
c.2872C>T (p.Gln958Ter)
c.1798C>T (p.Gln600Ter)
n.2853C>T
1g.151406037G>CCA341946838POGZc.3046C>G (p.Gln1016Glu)
c.2839C>G (p.Gln947Glu)
c.2998C>G (p.Gln1000Glu)
c.3019C>G (p.Gln1007Glu)
n.3146C>G
c.2713C>G (p.Gln905Glu)
c.2971C>G (p.Gln991Glu)
c.2866C>G (p.Gln956Glu)
c.2812C>G (p.Gln938Glu)
c.2890C>G (p.Gln964Glu)
c.2641C>G (p.Gln881Glu)
c.2872C>G (p.Gln958Glu)
c.1798C>G (p.Gln600Glu)
n.2853C>G
1g.151406037G>TCA341946836POGZc.3046C>A (p.Gln1016Lys)
c.2839C>A (p.Gln947Lys)
c.2998C>A (p.Gln1000Lys)
c.3019C>A (p.Gln1007Lys)
n.3146C>A
c.2713C>A (p.Gln905Lys)
c.2971C>A (p.Gln991Lys)
c.2866C>A (p.Gln956Lys)
c.2812C>A (p.Gln938Lys)
c.2890C>A (p.Gln964Lys)
c.2641C>A (p.Gln881Lys)
c.2872C>A (p.Gln958Lys)
c.1798C>A (p.Gln600Lys)
n.2853C>A
1g.151406038G>ACA420909791POGZc.3045C>T (p.Pro1015=)
c.2838C>T (p.Pro946=)
c.2997C>T (p.Pro999=)
c.3018C>T (p.Pro1006=)
n.3145C>T
c.2712C>T (p.Pro904=)
c.2970C>T (p.Pro990=)
c.2865C>T (p.Pro955=)
c.2811C>T (p.Pro937=)
c.2889C>T (p.Pro963=)
c.2640C>T (p.Pro880=)
c.2871C>T (p.Pro957=)
c.1797C>T (p.Pro599=)
n.2852C>T
1g.151406038G>CCA1091026POGZc.3045C>G (p.Pro1015=)
c.2838C>G (p.Pro946=)
c.2997C>G (p.Pro999=)
c.3018C>G (p.Pro1006=)
n.3145C>G
c.2712C>G (p.Pro904=)
c.2970C>G (p.Pro990=)
c.2865C>G (p.Pro955=)
c.2811C>G (p.Pro937=)
c.2889C>G (p.Pro963=)
c.2640C>G (p.Pro880=)
c.2871C>G (p.Pro957=)
c.1797C>G (p.Pro599=)
n.2852C>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.151406038G=CA2479570493POGZc.3045C= (p.Pro1015=)
c.2838C= (p.Pro946=)
c.2997C= (p.Pro999=)
c.3018C= (p.Pro1006=)
n.3145C=
c.2712C= (p.Pro904=)
c.2970C= (p.Pro990=)
c.2865C= (p.Pro955=)
c.2811C= (p.Pro937=)
c.2889C= (p.Pro963=)
c.2640C= (p.Pro880=)
c.2871C= (p.Pro957=)
c.1797C= (p.Pro599=)
n.2852C=
1g.151406038G>TCA420909794POGZc.3045C>A (p.Pro1015=)
c.2838C>A (p.Pro946=)
c.2997C>A (p.Pro999=)
c.3018C>A (p.Pro1006=)
n.3145C>A
c.2712C>A (p.Pro904=)
c.2970C>A (p.Pro990=)
c.2865C>A (p.Pro955=)
c.2811C>A (p.Pro937=)
c.2889C>A (p.Pro963=)
c.2640C>A (p.Pro880=)
c.2871C>A (p.Pro957=)
c.1797C>A (p.Pro599=)
n.2852C>A
1g.151406039G>ACA341946849POGZc.3044C>T (p.Pro1015Leu)
c.2837C>T (p.Pro946Leu)
c.2996C>T (p.Pro999Leu)
c.3017C>T (p.Pro1006Leu)
n.3144C>T
c.2711C>T (p.Pro904Leu)
c.2969C>T (p.Pro990Leu)
c.2864C>T (p.Pro955Leu)
c.2810C>T (p.Pro937Leu)
c.2888C>T (p.Pro963Leu)
c.2639C>T (p.Pro880Leu)
c.2870C>T (p.Pro957Leu)
c.1796C>T (p.Pro599Leu)
n.2851C>T
 gnomAD v4
1g.151406039G>CCA341946854POGZc.3044C>G (p.Pro1015Arg)
c.2837C>G (p.Pro946Arg)
c.2996C>G (p.Pro999Arg)
c.3017C>G (p.Pro1006Arg)
n.3144C>G
c.2711C>G (p.Pro904Arg)
c.2969C>G (p.Pro990Arg)
c.2864C>G (p.Pro955Arg)
c.2810C>G (p.Pro937Arg)
c.2888C>G (p.Pro963Arg)
c.2639C>G (p.Pro880Arg)
c.2870C>G (p.Pro957Arg)
c.1796C>G (p.Pro599Arg)
n.2851C>G
 gnomAD v4
1g.151406039G>TCA341946855POGZc.3044C>A (p.Pro1015His)
c.2837C>A (p.Pro946His)
c.2996C>A (p.Pro999His)
c.3017C>A (p.Pro1006His)
n.3144C>A
c.2711C>A (p.Pro904His)
c.2969C>A (p.Pro990His)
c.2864C>A (p.Pro955His)
c.2810C>A (p.Pro937His)
c.2888C>A (p.Pro963His)
c.2639C>A (p.Pro880His)
c.2870C>A (p.Pro957His)
c.1796C>A (p.Pro599His)
n.2851C>A
1g.151406040G>ACA341946856POGZc.3043C>T (p.Pro1015Ser)
c.2836C>T (p.Pro946Ser)
c.2995C>T (p.Pro999Ser)
c.3016C>T (p.Pro1006Ser)
n.3143C>T
c.2710C>T (p.Pro904Ser)
c.2968C>T (p.Pro990Ser)
c.2863C>T (p.Pro955Ser)
c.2809C>T (p.Pro937Ser)
c.2887C>T (p.Pro963Ser)
c.2638C>T (p.Pro880Ser)
c.2869C>T (p.Pro957Ser)
c.1795C>T (p.Pro599Ser)
n.2850C>T
1g.151406040G>CCA341946858POGZc.3043C>G (p.Pro1015Ala)
c.2836C>G (p.Pro946Ala)
c.2995C>G (p.Pro999Ala)
c.3016C>G (p.Pro1006Ala)
n.3143C>G
c.2710C>G (p.Pro904Ala)
c.2968C>G (p.Pro990Ala)
c.2863C>G (p.Pro955Ala)
c.2809C>G (p.Pro937Ala)
c.2887C>G (p.Pro963Ala)
c.2638C>G (p.Pro880Ala)
c.2869C>G (p.Pro957Ala)
c.1795C>G (p.Pro599Ala)
n.2850C>G
 gnomAD v4
1g.151406040G>TCA341946861POGZc.3043C>A (p.Pro1015Thr)
c.2836C>A (p.Pro946Thr)
c.2995C>A (p.Pro999Thr)
c.3016C>A (p.Pro1006Thr)
n.3143C>A
c.2710C>A (p.Pro904Thr)
c.2968C>A (p.Pro990Thr)
c.2863C>A (p.Pro955Thr)
c.2809C>A (p.Pro937Thr)
c.2887C>A (p.Pro963Thr)
c.2638C>A (p.Pro880Thr)
c.2869C>A (p.Pro957Thr)
c.1795C>A (p.Pro599Thr)
n.2850C>A
1g.151406041A>CCA341946868POGZc.3042T>G (p.Asn1014Lys)
c.2835T>G (p.Asn945Lys)
c.2994T>G (p.Asn998Lys)
c.3015T>G (p.Asn1005Lys)
n.3142T>G
c.2709T>G (p.Asn903Lys)
c.2967T>G (p.Asn989Lys)
c.2862T>G (p.Asn954Lys)
c.2808T>G (p.Asn936Lys)
c.2886T>G (p.Asn962Lys)
c.2637T>G (p.Asn879Lys)
c.2868T>G (p.Asn956Lys)
c.1794T>G (p.Asn598Lys)
n.2849T>G
1g.151406041A>GCA420909801POGZc.3042T>C (p.Asn1014=)
c.2835T>C (p.Asn945=)
c.2994T>C (p.Asn998=)
c.3015T>C (p.Asn1005=)
n.3142T>C
c.2709T>C (p.Asn903=)
c.2967T>C (p.Asn989=)
c.2862T>C (p.Asn954=)
c.2808T>C (p.Asn936=)
c.2886T>C (p.Asn962=)
c.2637T>C (p.Asn879=)
c.2868T>C (p.Asn956=)
c.1794T>C (p.Asn598=)
n.2849T>C
1g.151406041A>TCA341946869POGZc.3042T>A (p.Asn1014Lys)
c.2835T>A (p.Asn945Lys)
c.2994T>A (p.Asn998Lys)
c.3015T>A (p.Asn1005Lys)
n.3142T>A
c.2709T>A (p.Asn903Lys)
c.2967T>A (p.Asn989Lys)
c.2862T>A (p.Asn954Lys)
c.2808T>A (p.Asn936Lys)
c.2886T>A (p.Asn962Lys)
c.2637T>A (p.Asn879Lys)
c.2868T>A (p.Asn956Lys)
c.1794T>A (p.Asn598Lys)
n.2849T>A
1g.151406042T>ACA341946870POGZc.3041A>T (p.Asn1014Ile)
c.2834A>T (p.Asn945Ile)
c.2993A>T (p.Asn998Ile)
c.3014A>T (p.Asn1005Ile)
n.3141A>T
c.2708A>T (p.Asn903Ile)
c.2966A>T (p.Asn989Ile)
c.2861A>T (p.Asn954Ile)
c.2807A>T (p.Asn936Ile)
c.2885A>T (p.Asn962Ile)
c.2636A>T (p.Asn879Ile)
c.2867A>T (p.Asn956Ile)
c.1793A>T (p.Asn598Ile)
n.2848A>T
1g.151406042T>CCA341946871POGZc.3041A>G (p.Asn1014Ser)
c.2834A>G (p.Asn945Ser)
c.2993A>G (p.Asn998Ser)
c.3014A>G (p.Asn1005Ser)
n.3141A>G
c.2708A>G (p.Asn903Ser)
c.2966A>G (p.Asn989Ser)
c.2861A>G (p.Asn954Ser)
c.2807A>G (p.Asn936Ser)
c.2885A>G (p.Asn962Ser)
c.2636A>G (p.Asn879Ser)
c.2867A>G (p.Asn956Ser)
c.1793A>G (p.Asn598Ser)
n.2848A>G
1g.151406042T>GCA341946873POGZc.3041A>C (p.Asn1014Thr)
c.2834A>C (p.Asn945Thr)
c.2993A>C (p.Asn998Thr)
c.3014A>C (p.Asn1005Thr)
n.3141A>C
c.2708A>C (p.Asn903Thr)
c.2966A>C (p.Asn989Thr)
c.2861A>C (p.Asn954Thr)
c.2807A>C (p.Asn936Thr)
c.2885A>C (p.Asn962Thr)
c.2636A>C (p.Asn879Thr)
c.2867A>C (p.Asn956Thr)
c.1793A>C (p.Asn598Thr)
n.2848A>C
1g.151406043T>ACA341946891POGZc.3040A>T (p.Asn1014Tyr)
c.2833A>T (p.Asn945Tyr)
c.2992A>T (p.Asn998Tyr)
c.3013A>T (p.Asn1005Tyr)
n.3140A>T
c.2707A>T (p.Asn903Tyr)
c.2965A>T (p.Asn989Tyr)
c.2860A>T (p.Asn954Tyr)
c.2806A>T (p.Asn936Tyr)
c.2884A>T (p.Asn962Tyr)
c.2635A>T (p.Asn879Tyr)
c.2866A>T (p.Asn956Tyr)
c.1792A>T (p.Asn598Tyr)
n.2847A>T
1g.151406043T>CCA341946879POGZc.3040A>G (p.Asn1014Asp)
c.2833A>G (p.Asn945Asp)
c.2992A>G (p.Asn998Asp)
c.3013A>G (p.Asn1005Asp)
n.3140A>G
c.2707A>G (p.Asn903Asp)
c.2965A>G (p.Asn989Asp)
c.2860A>G (p.Asn954Asp)
c.2806A>G (p.Asn936Asp)
c.2884A>G (p.Asn962Asp)
c.2635A>G (p.Asn879Asp)
c.2866A>G (p.Asn956Asp)
c.1792A>G (p.Asn598Asp)
n.2847A>G
1g.151406043T>GCA341946877POGZc.3040A>C (p.Asn1014His)
c.2833A>C (p.Asn945His)
c.2992A>C (p.Asn998His)
c.3013A>C (p.Asn1005His)
n.3140A>C
c.2707A>C (p.Asn903His)
c.2965A>C (p.Asn989His)
c.2860A>C (p.Asn954His)
c.2806A>C (p.Asn936His)
c.2884A>C (p.Asn962His)
c.2635A>C (p.Asn879His)
c.2866A>C (p.Asn956His)
c.1792A>C (p.Asn598His)
n.2847A>C
1g.151406044T>ACA420909807POGZc.3039A>T (p.Arg1013=)
c.2832A>T (p.Arg944=)
c.2991A>T (p.Arg997=)
c.3012A>T (p.Arg1004=)
n.3139A>T
c.2706A>T (p.Arg902=)
c.2964A>T (p.Arg988=)
c.2859A>T (p.Arg953=)
c.2805A>T (p.Arg935=)
c.2883A>T (p.Arg961=)
c.2634A>T (p.Arg878=)
c.2865A>T (p.Arg955=)
c.1791A>T (p.Arg597=)
n.2846A>T
 dbSNP gnomAD v2 gnomAD v4
1g.151406044T>CCA420909809POGZc.3039A>G (p.Arg1013=)
c.2832A>G (p.Arg944=)
c.2991A>G (p.Arg997=)
c.3012A>G (p.Arg1004=)
n.3139A>G
c.2706A>G (p.Arg902=)
c.2964A>G (p.Arg988=)
c.2859A>G (p.Arg953=)
c.2805A>G (p.Arg935=)
c.2883A>G (p.Arg961=)
c.2634A>G (p.Arg878=)
c.2865A>G (p.Arg955=)
c.1791A>G (p.Arg597=)
n.2846A>G
1g.151406044T>GCA420909814POGZc.3039A>C (p.Arg1013=)
c.2832A>C (p.Arg944=)
c.2991A>C (p.Arg997=)
c.3012A>C (p.Arg1004=)
n.3139A>C
c.2706A>C (p.Arg902=)
c.2964A>C (p.Arg988=)
c.2859A>C (p.Arg953=)
c.2805A>C (p.Arg935=)
c.2883A>C (p.Arg961=)
c.2634A>C (p.Arg878=)
c.2865A>C (p.Arg955=)
c.1791A>C (p.Arg597=)
n.2846A>C
1g.151406044T=CA2479570494POGZc.3039A= (p.Arg1013=)
c.2832A= (p.Arg944=)
c.2991A= (p.Arg997=)
c.3012A= (p.Arg1004=)
n.3139A=
c.2706A= (p.Arg902=)
c.2964A= (p.Arg988=)
c.2859A= (p.Arg953=)
c.2805A= (p.Arg935=)
c.2883A= (p.Arg961=)
c.2634A= (p.Arg878=)
c.2865A= (p.Arg955=)
c.1791A= (p.Arg597=)
n.2846A=
1g.151406045C>ACA341946901POGZc.3038G>T (p.Arg1013Leu)
c.2831G>T (p.Arg944Leu)
c.2990G>T (p.Arg997Leu)
c.3011G>T (p.Arg1004Leu)
n.3138G>T
c.2705G>T (p.Arg902Leu)
c.2963G>T (p.Arg988Leu)
c.2858G>T (p.Arg953Leu)
c.2804G>T (p.Arg935Leu)
c.2882G>T (p.Arg961Leu)
c.2633G>T (p.Arg878Leu)
c.2864G>T (p.Arg955Leu)
c.1790G>T (p.Arg597Leu)
n.2845G>T
 COSMIC COSMIC
1g.151406045C=CA2479570495POGZc.3038G= (p.Arg1013=)
c.2831G= (p.Arg944=)
c.2990G= (p.Arg997=)
c.3011G= (p.Arg1004=)
n.3138G=
c.2705G= (p.Arg902=)
c.2963G= (p.Arg988=)
c.2858G= (p.Arg953=)
c.2804G= (p.Arg935=)
c.2882G= (p.Arg961=)
c.2633G= (p.Arg878=)
c.2864G= (p.Arg955=)
c.1790G= (p.Arg597=)
n.2845G=
1g.151406045C>GCA341946904POGZc.3038G>C (p.Arg1013Pro)
c.2831G>C (p.Arg944Pro)
c.2990G>C (p.Arg997Pro)
c.3011G>C (p.Arg1004Pro)
n.3138G>C
c.2705G>C (p.Arg902Pro)
c.2963G>C (p.Arg988Pro)
c.2858G>C (p.Arg953Pro)
c.2804G>C (p.Arg935Pro)
c.2882G>C (p.Arg961Pro)
c.2633G>C (p.Arg878Pro)
c.2864G>C (p.Arg955Pro)
c.1790G>C (p.Arg597Pro)
n.2845G>C
1g.151406045C>TCA1091027POGZc.3038G>A (p.Arg1013Gln)
c.2831G>A (p.Arg944Gln)
c.2990G>A (p.Arg997Gln)
c.3011G>A (p.Arg1004Gln)
n.3138G>A
c.2705G>A (p.Arg902Gln)
c.2963G>A (p.Arg988Gln)
c.2858G>A (p.Arg953Gln)
c.2804G>A (p.Arg935Gln)
c.2882G>A (p.Arg961Gln)
c.2633G>A (p.Arg878Gln)
c.2864G>A (p.Arg955Gln)
c.1790G>A (p.Arg597Gln)
n.2845G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.151406046G>ACA341946913POGZc.3037C>T (p.Arg1013Ter)
c.2830C>T (p.Arg944Ter)
c.2989C>T (p.Arg997Ter)
c.3010C>T (p.Arg1004Ter)
n.3137C>T
c.2704C>T (p.Arg902Ter)
c.2962C>T (p.Arg988Ter)
c.2857C>T (p.Arg953Ter)
c.2803C>T (p.Arg935Ter)
c.2881C>T (p.Arg961Ter)
c.2632C>T (p.Arg878Ter)
c.2863C>T (p.Arg955Ter)
c.1789C>T (p.Arg597Ter)
n.2844C>T
 ClinVar dbSNP
1g.151406046G>CCA341946919POGZc.3037C>G (p.Arg1013Gly)
c.2830C>G (p.Arg944Gly)
c.2989C>G (p.Arg997Gly)
c.3010C>G (p.Arg1004Gly)
n.3137C>G
c.2704C>G (p.Arg902Gly)
c.2962C>G (p.Arg988Gly)
c.2857C>G (p.Arg953Gly)
c.2803C>G (p.Arg935Gly)
c.2881C>G (p.Arg961Gly)
c.2632C>G (p.Arg878Gly)
c.2863C>G (p.Arg955Gly)
c.1789C>G (p.Arg597Gly)
n.2844C>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.151406046G=CA2479570496POGZc.3037C= (p.Arg1013=)
c.2830C= (p.Arg944=)
c.2989C= (p.Arg997=)
c.3010C= (p.Arg1004=)
n.3137C=
c.2704C= (p.Arg902=)
c.2962C= (p.Arg988=)
c.2857C= (p.Arg953=)
c.2803C= (p.Arg935=)
c.2881C= (p.Arg961=)
c.2632C= (p.Arg878=)
c.2863C= (p.Arg955=)
c.1789C= (p.Arg597=)
n.2844C=
1g.151406046G>TCA420909817POGZc.3037C>A (p.Arg1013=)
c.2830C>A (p.Arg944=)
c.2989C>A (p.Arg997=)
c.3010C>A (p.Arg1004=)
n.3137C>A
c.2704C>A (p.Arg902=)
c.2962C>A (p.Arg988=)
c.2857C>A (p.Arg953=)
c.2803C>A (p.Arg935=)
c.2881C>A (p.Arg961=)
c.2632C>A (p.Arg878=)
c.2863C>A (p.Arg955=)
c.1789C>A (p.Arg597=)
n.2844C>A
 dbSNP gnomAD v3 gnomAD v4
1g.151406047G>ACA420909820POGZc.3036C>T (p.Phe1012=)
c.2829C>T (p.Phe943=)
c.2988C>T (p.Phe996=)
c.3009C>T (p.Phe1003=)
n.3136C>T
c.2703C>T (p.Phe901=)
c.2961C>T (p.Phe987=)
c.2856C>T (p.Phe952=)
c.2802C>T (p.Phe934=)
c.2880C>T (p.Phe960=)
c.2631C>T (p.Phe877=)
c.2862C>T (p.Phe954=)
c.1788C>T (p.Phe596=)
n.2843C>T
 dbSNP gnomAD v2 gnomAD v4
1g.151406047G>CCA341946924POGZc.3036C>G (p.Phe1012Leu)
c.2829C>G (p.Phe943Leu)
c.2988C>G (p.Phe996Leu)
c.3009C>G (p.Phe1003Leu)
n.3136C>G
c.2703C>G (p.Phe901Leu)
c.2961C>G (p.Phe987Leu)
c.2856C>G (p.Phe952Leu)
c.2802C>G (p.Phe934Leu)
c.2880C>G (p.Phe960Leu)
c.2631C>G (p.Phe877Leu)
c.2862C>G (p.Phe954Leu)
c.1788C>G (p.Phe596Leu)
n.2843C>G
1g.151406047G=CA2479570497POGZc.3036C= (p.Phe1012=)
c.2829C= (p.Phe943=)
c.2988C= (p.Phe996=)
c.3009C= (p.Phe1003=)
n.3136C=
c.2703C= (p.Phe901=)
c.2961C= (p.Phe987=)
c.2856C= (p.Phe952=)
c.2802C= (p.Phe934=)
c.2880C= (p.Phe960=)
c.2631C= (p.Phe877=)
c.2862C= (p.Phe954=)
c.1788C= (p.Phe596=)
n.2843C=
1g.151406047G>TCA341946930POGZc.3036C>A (p.Phe1012Leu)
c.2829C>A (p.Phe943Leu)
c.2988C>A (p.Phe996Leu)
c.3009C>A (p.Phe1003Leu)
n.3136C>A
c.2703C>A (p.Phe901Leu)
c.2961C>A (p.Phe987Leu)
c.2856C>A (p.Phe952Leu)
c.2802C>A (p.Phe934Leu)
c.2880C>A (p.Phe960Leu)
c.2631C>A (p.Phe877Leu)
c.2862C>A (p.Phe954Leu)
c.1788C>A (p.Phe596Leu)
n.2843C>A
1g.151406048A=CA2479570498POGZc.3035T= (p.Phe1012=)
c.2828T= (p.Phe943=)
c.2987T= (p.Phe996=)
c.3008T= (p.Phe1003=)
n.3135T=
c.2702T= (p.Phe901=)
c.2960T= (p.Phe987=)
c.2855T= (p.Phe952=)
c.2801T= (p.Phe934=)
c.2879T= (p.Phe960=)
c.2630T= (p.Phe877=)
c.2861T= (p.Phe954=)
c.1787T= (p.Phe596=)
n.2842T=
1g.151406048A>CCA341946937POGZc.3035T>G (p.Phe1012Cys)
c.2828T>G (p.Phe943Cys)
c.2987T>G (p.Phe996Cys)
c.3008T>G (p.Phe1003Cys)
n.3135T>G
c.2702T>G (p.Phe901Cys)
c.2960T>G (p.Phe987Cys)
c.2855T>G (p.Phe952Cys)
c.2801T>G (p.Phe934Cys)
c.2879T>G (p.Phe960Cys)
c.2630T>G (p.Phe877Cys)
c.2861T>G (p.Phe954Cys)
c.1787T>G (p.Phe596Cys)
n.2842T>G
 dbSNP
1g.151406048A>GCA341946940POGZc.3035T>C (p.Phe1012Ser)
c.2828T>C (p.Phe943Ser)
c.2987T>C (p.Phe996Ser)
c.3008T>C (p.Phe1003Ser)
n.3135T>C
c.2702T>C (p.Phe901Ser)
c.2960T>C (p.Phe987Ser)
c.2855T>C (p.Phe952Ser)
c.2801T>C (p.Phe934Ser)
c.2879T>C (p.Phe960Ser)
c.2630T>C (p.Phe877Ser)
c.2861T>C (p.Phe954Ser)
c.1787T>C (p.Phe596Ser)
n.2842T>C
1g.151406048A>TCA341946943POGZc.3035T>A (p.Phe1012Tyr)
c.2828T>A (p.Phe943Tyr)
c.2987T>A (p.Phe996Tyr)
c.3008T>A (p.Phe1003Tyr)
n.3135T>A
c.2702T>A (p.Phe901Tyr)
c.2960T>A (p.Phe987Tyr)
c.2855T>A (p.Phe952Tyr)
c.2801T>A (p.Phe934Tyr)
c.2879T>A (p.Phe960Tyr)
c.2630T>A (p.Phe877Tyr)
c.2861T>A (p.Phe954Tyr)
c.1787T>A (p.Phe596Tyr)
n.2842T>A
1g.151406049A>CCA341946948POGZc.3034T>G (p.Phe1012Val)
c.2827T>G (p.Phe943Val)
c.2986T>G (p.Phe996Val)
c.3007T>G (p.Phe1003Val)
n.3134T>G
c.2701T>G (p.Phe901Val)
c.2959T>G (p.Phe987Val)
c.2854T>G (p.Phe952Val)
c.2800T>G (p.Phe934Val)
c.2878T>G (p.Phe960Val)
c.2629T>G (p.Phe877Val)
c.2860T>G (p.Phe954Val)
c.1786T>G (p.Phe596Val)
n.2841T>G
1g.151406049A>GCA341946952POGZc.3034T>C (p.Phe1012Leu)
c.2827T>C (p.Phe943Leu)
c.2986T>C (p.Phe996Leu)
c.3007T>C (p.Phe1003Leu)
n.3134T>C
c.2701T>C (p.Phe901Leu)
c.2959T>C (p.Phe987Leu)
c.2854T>C (p.Phe952Leu)
c.2800T>C (p.Phe934Leu)
c.2878T>C (p.Phe960Leu)
c.2629T>C (p.Phe877Leu)
c.2860T>C (p.Phe954Leu)
c.1786T>C (p.Phe596Leu)
n.2841T>C
1g.151406049A>TCA341946957POGZc.3034T>A (p.Phe1012Ile)
c.2827T>A (p.Phe943Ile)
c.2986T>A (p.Phe996Ile)
c.3007T>A (p.Phe1003Ile)
n.3134T>A
c.2701T>A (p.Phe901Ile)
c.2959T>A (p.Phe987Ile)
c.2854T>A (p.Phe952Ile)
c.2800T>A (p.Phe934Ile)
c.2878T>A (p.Phe960Ile)
c.2629T>A (p.Phe877Ile)
c.2860T>A (p.Phe954Ile)
c.1786T>A (p.Phe596Ile)
n.2841T>A
1g.151406050G>ACA420909832POGZc.3033C>T (p.His1011=)
c.2826C>T (p.His942=)
c.2985C>T (p.His995=)
c.3006C>T (p.His1002=)
n.3133C>T
c.2700C>T (p.His900=)
c.2958C>T (p.His986=)
c.2853C>T (p.His951=)
c.2799C>T (p.His933=)
c.2877C>T (p.His959=)
c.2628C>T (p.His876=)
c.2859C>T (p.His953=)
c.1785C>T (p.His595=)
n.2840C>T
1g.151406050G>CCA1091028POGZc.3033C>G (p.His1011Gln)
c.2826C>G (p.His942Gln)
c.2985C>G (p.His995Gln)
c.3006C>G (p.His1002Gln)
n.3133C>G
c.2700C>G (p.His900Gln)
c.2958C>G (p.His986Gln)
c.2853C>G (p.His951Gln)
c.2799C>G (p.His933Gln)
c.2877C>G (p.His959Gln)
c.2628C>G (p.His876Gln)
c.2859C>G (p.His953Gln)
c.1785C>G (p.His595Gln)
n.2840C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.151406050G=CA2479570499POGZc.3033C= (p.His1011=)
c.2826C= (p.His942=)
c.2985C= (p.His995=)
c.3006C= (p.His1002=)
n.3133C=
c.2700C= (p.His900=)
c.2958C= (p.His986=)
c.2853C= (p.His951=)
c.2799C= (p.His933=)
c.2877C= (p.His959=)
c.2628C= (p.His876=)
c.2859C= (p.His953=)
c.1785C= (p.His595=)
n.2840C=
1g.151406050G>TCA341946960POGZc.3033C>A (p.His1011Gln)
c.2826C>A (p.His942Gln)
c.2985C>A (p.His995Gln)
c.3006C>A (p.His1002Gln)
n.3133C>A
c.2700C>A (p.His900Gln)
c.2958C>A (p.His986Gln)
c.2853C>A (p.His951Gln)
c.2799C>A (p.His933Gln)
c.2877C>A (p.His959Gln)
c.2628C>A (p.His876Gln)
c.2859C>A (p.His953Gln)
c.1785C>A (p.His595Gln)
n.2840C>A
1g.151406051T>ACA341946965POGZc.3032A>T (p.His1011Leu)
c.2825A>T (p.His942Leu)
c.2984A>T (p.His995Leu)
c.3005A>T (p.His1002Leu)
n.3132A>T
c.2699A>T (p.His900Leu)
c.2957A>T (p.His986Leu)
c.2852A>T (p.His951Leu)
c.2798A>T (p.His933Leu)
c.2876A>T (p.His959Leu)
c.2627A>T (p.His876Leu)
c.2858A>T (p.His953Leu)
c.1784A>T (p.His595Leu)
n.2839A>T
1g.151406051T>CCA341946971POGZc.3032A>G (p.His1011Arg)
c.2825A>G (p.His942Arg)
c.2984A>G (p.His995Arg)
c.3005A>G (p.His1002Arg)
n.3132A>G
c.2699A>G (p.His900Arg)
c.2957A>G (p.His986Arg)
c.2852A>G (p.His951Arg)
c.2798A>G (p.His933Arg)
c.2876A>G (p.His959Arg)
c.2627A>G (p.His876Arg)
c.2858A>G (p.His953Arg)
c.1784A>G (p.His595Arg)
n.2839A>G
 gnomAD v4
1g.151406051T>GCA341946968POGZc.3032A>C (p.His1011Pro)
c.2825A>C (p.His942Pro)
c.2984A>C (p.His995Pro)
c.3005A>C (p.His1002Pro)
n.3132A>C
c.2699A>C (p.His900Pro)
c.2957A>C (p.His986Pro)
c.2852A>C (p.His951Pro)
c.2798A>C (p.His933Pro)
c.2876A>C (p.His959Pro)
c.2627A>C (p.His876Pro)
c.2858A>C (p.His953Pro)
c.1784A>C (p.His595Pro)
n.2839A>C
1g.151406052G>ACA341946976POGZc.3031C>T (p.His1011Tyr)
c.2824C>T (p.His942Tyr)
c.2983C>T (p.His995Tyr)
c.3004C>T (p.His1002Tyr)
n.3131C>T
c.2698C>T (p.His900Tyr)
c.2956C>T (p.His986Tyr)
c.2851C>T (p.His951Tyr)
c.2797C>T (p.His933Tyr)
c.2875C>T (p.His959Tyr)
c.2626C>T (p.His876Tyr)
c.2857C>T (p.His953Tyr)
c.1783C>T (p.His595Tyr)
n.2838C>T
1g.151406052G>CCA341946983POGZc.3031C>G (p.His1011Asp)
c.2824C>G (p.His942Asp)
c.2983C>G (p.His995Asp)
c.3004C>G (p.His1002Asp)
n.3131C>G
c.2698C>G (p.His900Asp)
c.2956C>G (p.His986Asp)
c.2851C>G (p.His951Asp)
c.2797C>G (p.His933Asp)
c.2875C>G (p.His959Asp)
c.2626C>G (p.His876Asp)
c.2857C>G (p.His953Asp)
c.1783C>G (p.His595Asp)
n.2838C>G
1g.151406052G>TCA341946979POGZc.3031C>A (p.His1011Asn)
c.2824C>A (p.His942Asn)
c.2983C>A (p.His995Asn)
c.3004C>A (p.His1002Asn)
n.3131C>A
c.2698C>A (p.His900Asn)
c.2956C>A (p.His986Asn)
c.2851C>A (p.His951Asn)
c.2797C>A (p.His933Asn)
c.2875C>A (p.His959Asn)
c.2626C>A (p.His876Asn)
c.2857C>A (p.His953Asn)
c.1783C>A (p.His595Asn)
n.2838C>A
1g.151406053T>ACA341946989POGZc.3030A>T (p.Glu1010Asp)
c.2823A>T (p.Glu941Asp)
c.2982A>T (p.Glu994Asp)
c.3003A>T (p.Glu1001Asp)
n.3130A>T
c.2697A>T (p.Glu899Asp)
c.2955A>T (p.Glu985Asp)
c.2850A>T (p.Glu950Asp)
c.2796A>T (p.Glu932Asp)
c.2874A>T (p.Glu958Asp)
c.2625A>T (p.Glu875Asp)
c.2856A>T (p.Glu952Asp)
c.1782A>T (p.Glu594Asp)
n.2837A>T
1g.151406053T>CCA420909845POGZc.3030A>G (p.Glu1010=)
c.2823A>G (p.Glu941=)
c.2982A>G (p.Glu994=)
c.3003A>G (p.Glu1001=)
n.3130A>G
c.2697A>G (p.Glu899=)
c.2955A>G (p.Glu985=)
c.2850A>G (p.Glu950=)
c.2796A>G (p.Glu932=)
c.2874A>G (p.Glu958=)
c.2625A>G (p.Glu875=)
c.2856A>G (p.Glu952=)
c.1782A>G (p.Glu594=)
n.2837A>G
1g.151406053T>GCA341946992POGZc.3030A>C (p.Glu1010Asp)
c.2823A>C (p.Glu941Asp)
c.2982A>C (p.Glu994Asp)
c.3003A>C (p.Glu1001Asp)
n.3130A>C
c.2697A>C (p.Glu899Asp)
c.2955A>C (p.Glu985Asp)
c.2850A>C (p.Glu950Asp)
c.2796A>C (p.Glu932Asp)
c.2874A>C (p.Glu958Asp)
c.2625A>C (p.Glu875Asp)
c.2856A>C (p.Glu952Asp)
c.1782A>C (p.Glu594Asp)
n.2837A>C
1g.151406054T>ACA341947000POGZc.3029A>T (p.Glu1010Val)
c.2822A>T (p.Glu941Val)
c.2981A>T (p.Glu994Val)
c.3002A>T (p.Glu1001Val)
n.3129A>T
c.2696A>T (p.Glu899Val)
c.2954A>T (p.Glu985Val)
c.2849A>T (p.Glu950Val)
c.2795A>T (p.Glu932Val)
c.2873A>T (p.Glu958Val)
c.2624A>T (p.Glu875Val)
c.2855A>T (p.Glu952Val)
c.1781A>T (p.Glu594Val)
n.2836A>T
1g.151406054T>CCA341947004POGZc.3029A>G (p.Glu1010Gly)
c.2822A>G (p.Glu941Gly)
c.2981A>G (p.Glu994Gly)
c.3002A>G (p.Glu1001Gly)
n.3129A>G
c.2696A>G (p.Glu899Gly)
c.2954A>G (p.Glu985Gly)
c.2849A>G (p.Glu950Gly)
c.2795A>G (p.Glu932Gly)
c.2873A>G (p.Glu958Gly)
c.2624A>G (p.Glu875Gly)
c.2855A>G (p.Glu952Gly)
c.1781A>G (p.Glu594Gly)
n.2836A>G
1g.151406054T>GCA341947007POGZc.3029A>C (p.Glu1010Ala)
c.2822A>C (p.Glu941Ala)
c.2981A>C (p.Glu994Ala)
c.3002A>C (p.Glu1001Ala)
n.3129A>C
c.2696A>C (p.Glu899Ala)
c.2954A>C (p.Glu985Ala)
c.2849A>C (p.Glu950Ala)
c.2795A>C (p.Glu932Ala)
c.2873A>C (p.Glu958Ala)
c.2624A>C (p.Glu875Ala)
c.2855A>C (p.Glu952Ala)
c.1781A>C (p.Glu594Ala)
n.2836A>C
1g.151406055C>ACA341947010POGZc.3028G>T (p.Glu1010Ter)
c.2821G>T (p.Glu941Ter)
c.2980G>T (p.Glu994Ter)
c.3001G>T (p.Glu1001Ter)
n.3128G>T
c.2695G>T (p.Glu899Ter)
c.2953G>T (p.Glu985Ter)
c.2848G>T (p.Glu950Ter)
c.2794G>T (p.Glu932Ter)
c.2872G>T (p.Glu958Ter)
c.2623G>T (p.Glu875Ter)
c.2854G>T (p.Glu952Ter)
c.1780G>T (p.Glu594Ter)
n.2835G>T
1g.151406055C=CA2479570500POGZc.3028G= (p.Glu1010=)
c.2821G= (p.Glu941=)
c.2980G= (p.Glu994=)
c.3001G= (p.Glu1001=)
n.3128G=
c.2695G= (p.Glu899=)
c.2953G= (p.Glu985=)
c.2848G= (p.Glu950=)
c.2794G= (p.Glu932=)
c.2872G= (p.Glu958=)
c.2623G= (p.Glu875=)
c.2854G= (p.Glu952=)
c.1780G= (p.Glu594=)
n.2835G=
1g.151406055C>GCA341947012POGZc.3028G>C (p.Glu1010Gln)
c.2821G>C (p.Glu941Gln)
c.2980G>C (p.Glu994Gln)
c.3001G>C (p.Glu1001Gln)
n.3128G>C
c.2695G>C (p.Glu899Gln)
c.2953G>C (p.Glu985Gln)
c.2848G>C (p.Glu950Gln)
c.2794G>C (p.Glu932Gln)
c.2872G>C (p.Glu958Gln)
c.2623G>C (p.Glu875Gln)
c.2854G>C (p.Glu952Gln)
c.1780G>C (p.Glu594Gln)
n.2835G>C
1g.151406055C>TCA341947017POGZc.3028G>A (p.Glu1010Lys)
c.2821G>A (p.Glu941Lys)
c.2980G>A (p.Glu994Lys)
c.3001G>A (p.Glu1001Lys)
n.3128G>A
c.2695G>A (p.Glu899Lys)
c.2953G>A (p.Glu985Lys)
c.2848G>A (p.Glu950Lys)
c.2794G>A (p.Glu932Lys)
c.2872G>A (p.Glu958Lys)
c.2623G>A (p.Glu875Lys)
c.2854G>A (p.Glu952Lys)
c.1780G>A (p.Glu594Lys)
n.2835G>A
 dbSNP gnomAD v2
1g.151406056A=CA2479570501POGZc.3027T= (p.Ala1009=)
c.2820T= (p.Ala940=)
c.2979T= (p.Ala993=)
c.3000T= (p.Ala1000=)
n.3127T=
c.2694T= (p.Ala898=)
c.2952T= (p.Ala984=)
c.2847T= (p.Ala949=)
c.2793T= (p.Ala931=)
c.2871T= (p.Ala957=)
c.2622T= (p.Ala874=)
c.2853T= (p.Ala951=)
c.1779T= (p.Ala593=)
n.2834T=
1g.151406056A>CCA420909851POGZc.3027T>G (p.Ala1009=)
c.2820T>G (p.Ala940=)
c.2979T>G (p.Ala993=)
c.3000T>G (p.Ala1000=)
n.3127T>G
c.2694T>G (p.Ala898=)
c.2952T>G (p.Ala984=)
c.2847T>G (p.Ala949=)
c.2793T>G (p.Ala931=)
c.2871T>G (p.Ala957=)
c.2622T>G (p.Ala874=)
c.2853T>G (p.Ala951=)
c.1779T>G (p.Ala593=)
n.2834T>G
1g.151406056A>GCA420909852POGZc.3027T>C (p.Ala1009=)
c.2820T>C (p.Ala940=)
c.2979T>C (p.Ala993=)
c.3000T>C (p.Ala1000=)
n.3127T>C
c.2694T>C (p.Ala898=)
c.2952T>C (p.Ala984=)
c.2847T>C (p.Ala949=)
c.2793T>C (p.Ala931=)
c.2871T>C (p.Ala957=)
c.2622T>C (p.Ala874=)
c.2853T>C (p.Ala951=)
c.1779T>C (p.Ala593=)
n.2834T>C
 dbSNP
1g.151406056A>TCA420909853POGZc.3027T>A (p.Ala1009=)
c.2820T>A (p.Ala940=)
c.2979T>A (p.Ala993=)
c.3000T>A (p.Ala1000=)
n.3127T>A
c.2694T>A (p.Ala898=)
c.2952T>A (p.Ala984=)
c.2847T>A (p.Ala949=)
c.2793T>A (p.Ala931=)
c.2871T>A (p.Ala957=)
c.2622T>A (p.Ala874=)
c.2853T>A (p.Ala951=)
c.1779T>A (p.Ala593=)
n.2834T>A
1g.151406057G>ACA341947029POGZc.3026C>T (p.Ala1009Val)
c.2819C>T (p.Ala940Val)
c.2978C>T (p.Ala993Val)
c.2999C>T (p.Ala1000Val)
n.3126C>T
c.2693C>T (p.Ala898Val)
c.2951C>T (p.Ala984Val)
c.2846C>T (p.Ala949Val)
c.2792C>T (p.Ala931Val)
c.2870C>T (p.Ala957Val)
c.2621C>T (p.Ala874Val)
c.2852C>T (p.Ala951Val)
c.1778C>T (p.Ala593Val)
n.2833C>T
1g.151406057G>CCA341947031POGZc.3026C>G (p.Ala1009Gly)
c.2819C>G (p.Ala940Gly)
c.2978C>G (p.Ala993Gly)
c.2999C>G (p.Ala1000Gly)
n.3126C>G
c.2693C>G (p.Ala898Gly)
c.2951C>G (p.Ala984Gly)
c.2846C>G (p.Ala949Gly)
c.2792C>G (p.Ala931Gly)
c.2870C>G (p.Ala957Gly)
c.2621C>G (p.Ala874Gly)
c.2852C>G (p.Ala951Gly)
c.1778C>G (p.Ala593Gly)
n.2833C>G
1g.151406057G>TCA341947035POGZc.3026C>A (p.Ala1009Asp)
c.2819C>A (p.Ala940Asp)
c.2978C>A (p.Ala993Asp)
c.2999C>A (p.Ala1000Asp)
n.3126C>A
c.2693C>A (p.Ala898Asp)
c.2951C>A (p.Ala984Asp)
c.2846C>A (p.Ala949Asp)
c.2792C>A (p.Ala931Asp)
c.2870C>A (p.Ala957Asp)
c.2621C>A (p.Ala874Asp)
c.2852C>A (p.Ala951Asp)
c.1778C>A (p.Ala593Asp)
n.2833C>A
1g.151406058C>ACA341947050POGZc.3025G>T (p.Ala1009Ser)
c.2818G>T (p.Ala940Ser)
c.2977G>T (p.Ala993Ser)
c.2998G>T (p.Ala1000Ser)
n.3125G>T
c.2692G>T (p.Ala898Ser)
c.2950G>T (p.Ala984Ser)
c.2845G>T (p.Ala949Ser)
c.2791G>T (p.Ala931Ser)
c.2869G>T (p.Ala957Ser)
c.2620G>T (p.Ala874Ser)
c.2851G>T (p.Ala951Ser)
c.1777G>T (p.Ala593Ser)
n.2832G>T
1g.151406058C>GCA341947044POGZc.3025G>C (p.Ala1009Pro)
c.2818G>C (p.Ala940Pro)
c.2977G>C (p.Ala993Pro)
c.2998G>C (p.Ala1000Pro)
n.3125G>C
c.2692G>C (p.Ala898Pro)
c.2950G>C (p.Ala984Pro)
c.2845G>C (p.Ala949Pro)
c.2791G>C (p.Ala931Pro)
c.2869G>C (p.Ala957Pro)
c.2620G>C (p.Ala874Pro)
c.2851G>C (p.Ala951Pro)
c.1777G>C (p.Ala593Pro)
n.2832G>C
1g.151406058C>TCA341947042POGZc.3025G>A (p.Ala1009Thr)
c.2818G>A (p.Ala940Thr)
c.2977G>A (p.Ala993Thr)
c.2998G>A (p.Ala1000Thr)
n.3125G>A
c.2692G>A (p.Ala898Thr)
c.2950G>A (p.Ala984Thr)
c.2845G>A (p.Ala949Thr)
c.2791G>A (p.Ala931Thr)
c.2869G>A (p.Ala957Thr)
c.2620G>A (p.Ala874Thr)
c.2851G>A (p.Ala951Thr)
c.1777G>A (p.Ala593Thr)
n.2832G>A
1g.151406059T>ACA420909860POGZc.3024A>T (p.Ala1008=)
c.2817A>T (p.Ala939=)
c.2976A>T (p.Ala992=)
c.2997A>T (p.Ala999=)
n.3124A>T
c.2691A>T (p.Ala897=)
c.2949A>T (p.Ala983=)
c.2844A>T (p.Ala948=)
c.2790A>T (p.Ala930=)
c.2868A>T (p.Ala956=)
c.2619A>T (p.Ala873=)
c.2850A>T (p.Ala950=)
c.1776A>T (p.Ala592=)
n.2831A>T
 dbSNP
1g.151406059T>CCA420909861POGZc.3024A>G (p.Ala1008=)
c.2817A>G (p.Ala939=)
c.2976A>G (p.Ala992=)
c.2997A>G (p.Ala999=)
n.3124A>G
c.2691A>G (p.Ala897=)
c.2949A>G (p.Ala983=)
c.2844A>G (p.Ala948=)
c.2790A>G (p.Ala930=)
c.2868A>G (p.Ala956=)
c.2619A>G (p.Ala873=)
c.2850A>G (p.Ala950=)
c.1776A>G (p.Ala592=)
n.2831A>G
1g.151406059T>GCA420909863POGZc.3024A>C (p.Ala1008=)
c.2817A>C (p.Ala939=)
c.2976A>C (p.Ala992=)
c.2997A>C (p.Ala999=)
n.3124A>C
c.2691A>C (p.Ala897=)
c.2949A>C (p.Ala983=)
c.2844A>C (p.Ala948=)
c.2790A>C (p.Ala930=)
c.2868A>C (p.Ala956=)
c.2619A>C (p.Ala873=)
c.2850A>C (p.Ala950=)
c.1776A>C (p.Ala592=)
n.2831A>C
1g.151406059T=CA2479570502POGZc.3024A= (p.Ala1008=)
c.2817A= (p.Ala939=)
c.2976A= (p.Ala992=)
c.2997A= (p.Ala999=)
n.3124A=
c.2691A= (p.Ala897=)
c.2949A= (p.Ala983=)
c.2844A= (p.Ala948=)
c.2790A= (p.Ala930=)
c.2868A= (p.Ala956=)
c.2619A= (p.Ala873=)
c.2850A= (p.Ala950=)
c.1776A= (p.Ala592=)
n.2831A=
1g.151406060G>ACA341947056POGZc.3023C>T (p.Ala1008Val)
c.2816C>T (p.Ala939Val)
c.2975C>T (p.Ala992Val)
c.2996C>T (p.Ala999Val)
n.3123C>T
c.2690C>T (p.Ala897Val)
c.2948C>T (p.Ala983Val)
c.2843C>T (p.Ala948Val)
c.2789C>T (p.Ala930Val)
c.2867C>T (p.Ala956Val)
c.2618C>T (p.Ala873Val)
c.2849C>T (p.Ala950Val)
c.1775C>T (p.Ala592Val)
n.2830C>T
 gnomAD v4
1g.151406060G>CCA341947058POGZc.3023C>G (p.Ala1008Gly)
c.2816C>G (p.Ala939Gly)
c.2975C>G (p.Ala992Gly)
c.2996C>G (p.Ala999Gly)
n.3123C>G
c.2690C>G (p.Ala897Gly)
c.2948C>G (p.Ala983Gly)
c.2843C>G (p.Ala948Gly)
c.2789C>G (p.Ala930Gly)
c.2867C>G (p.Ala956Gly)
c.2618C>G (p.Ala873Gly)
c.2849C>G (p.Ala950Gly)
c.1775C>G (p.Ala592Gly)
n.2830C>G
1g.151406060G>TCA341947061POGZc.3023C>A (p.Ala1008Glu)
c.2816C>A (p.Ala939Glu)
c.2975C>A (p.Ala992Glu)
c.2996C>A (p.Ala999Glu)
n.3123C>A
c.2690C>A (p.Ala897Glu)
c.2948C>A (p.Ala983Glu)
c.2843C>A (p.Ala948Glu)
c.2789C>A (p.Ala930Glu)
c.2867C>A (p.Ala956Glu)
c.2618C>A (p.Ala873Glu)
c.2849C>A (p.Ala950Glu)
c.1775C>A (p.Ala592Glu)
n.2830C>A
1g.151406061C>ACA341947065POGZc.3022G>T (p.Ala1008Ser)
c.2815G>T (p.Ala939Ser)
c.2974G>T (p.Ala992Ser)
c.2995G>T (p.Ala999Ser)
n.3122G>T
c.2689G>T (p.Ala897Ser)
c.2947G>T (p.Ala983Ser)
c.2842G>T (p.Ala948Ser)
c.2788G>T (p.Ala930Ser)
c.2866G>T (p.Ala956Ser)
c.2617G>T (p.Ala873Ser)
c.2848G>T (p.Ala950Ser)
c.1774G>T (p.Ala592Ser)
n.2829G>T
1g.151406061C>GCA341947068POGZc.3022G>C (p.Ala1008Pro)
c.2815G>C (p.Ala939Pro)
c.2974G>C (p.Ala992Pro)
c.2995G>C (p.Ala999Pro)
n.3122G>C
c.2689G>C (p.Ala897Pro)
c.2947G>C (p.Ala983Pro)
c.2842G>C (p.Ala948Pro)
c.2788G>C (p.Ala930Pro)
c.2866G>C (p.Ala956Pro)
c.2617G>C (p.Ala873Pro)
c.2848G>C (p.Ala950Pro)
c.1774G>C (p.Ala592Pro)
n.2829G>C
1g.151406061C>TCA341947079POGZc.3022G>A (p.Ala1008Thr)
c.2815G>A (p.Ala939Thr)
c.2974G>A (p.Ala992Thr)
c.2995G>A (p.Ala999Thr)
n.3122G>A
c.2689G>A (p.Ala897Thr)
c.2947G>A (p.Ala983Thr)
c.2842G>A (p.Ala948Thr)
c.2788G>A (p.Ala930Thr)
c.2866G>A (p.Ala956Thr)
c.2617G>A (p.Ala873Thr)
c.2848G>A (p.Ala950Thr)
c.1774G>A (p.Ala592Thr)
n.2829G>A
1g.151406062C>ACA341947087POGZc.3021G>T (p.Gln1007His)
c.2814G>T (p.Gln938His)
c.2973G>T (p.Gln991His)
c.2994G>T (p.Gln998His)
n.3121G>T
c.2688G>T (p.Gln896His)
c.2946G>T (p.Gln982His)
c.2841G>T (p.Gln947His)
c.2787G>T (p.Gln929His)
c.2865G>T (p.Gln955His)
c.2616G>T (p.Gln872His)
c.2847G>T (p.Gln949His)
c.1773G>T (p.Gln591His)
n.2828G>T
1g.151406062C>GCA341947089POGZc.3021G>C (p.Gln1007His)
c.2814G>C (p.Gln938His)
c.2973G>C (p.Gln991His)
c.2994G>C (p.Gln998His)
n.3121G>C
c.2688G>C (p.Gln896His)
c.2946G>C (p.Gln982His)
c.2841G>C (p.Gln947His)
c.2787G>C (p.Gln929His)
c.2865G>C (p.Gln955His)
c.2616G>C (p.Gln872His)
c.2847G>C (p.Gln949His)
c.1773G>C (p.Gln591His)
n.2828G>C
1g.151406062C>TCA420909874POGZc.3021G>A (p.Gln1007=)
c.2814G>A (p.Gln938=)
c.2973G>A (p.Gln991=)
c.2994G>A (p.Gln998=)
n.3121G>A
c.2688G>A (p.Gln896=)
c.2946G>A (p.Gln982=)
c.2841G>A (p.Gln947=)
c.2787G>A (p.Gln929=)
c.2865G>A (p.Gln955=)
c.2616G>A (p.Gln872=)
c.2847G>A (p.Gln949=)
c.1773G>A (p.Gln591=)
n.2828G>A
 gnomAD v4
1g.151406063T>ACA341947092POGZc.3020A>T (p.Gln1007Leu)
c.2813A>T (p.Gln938Leu)
c.2972A>T (p.Gln991Leu)
c.2993A>T (p.Gln998Leu)
n.3120A>T
c.2687A>T (p.Gln896Leu)
c.2945A>T (p.Gln982Leu)
c.2840A>T (p.Gln947Leu)
c.2786A>T (p.Gln929Leu)
c.2864A>T (p.Gln955Leu)
c.2615A>T (p.Gln872Leu)
c.2846A>T (p.Gln949Leu)
c.1772A>T (p.Gln591Leu)
n.2827A>T
1g.151406063T>CCA341947094POGZc.3020A>G (p.Gln1007Arg)
c.2813A>G (p.Gln938Arg)
c.2972A>G (p.Gln991Arg)
c.2993A>G (p.Gln998Arg)
n.3120A>G
c.2687A>G (p.Gln896Arg)
c.2945A>G (p.Gln982Arg)
c.2840A>G (p.Gln947Arg)
c.2786A>G (p.Gln929Arg)
c.2864A>G (p.Gln955Arg)
c.2615A>G (p.Gln872Arg)
c.2846A>G (p.Gln949Arg)
c.1772A>G (p.Gln591Arg)
n.2827A>G
1g.151406063T>GCA341947096POGZc.3020A>C (p.Gln1007Pro)
c.2813A>C (p.Gln938Pro)
c.2972A>C (p.Gln991Pro)
c.2993A>C (p.Gln998Pro)
n.3120A>C
c.2687A>C (p.Gln896Pro)
c.2945A>C (p.Gln982Pro)
c.2840A>C (p.Gln947Pro)
c.2786A>C (p.Gln929Pro)
c.2864A>C (p.Gln955Pro)
c.2615A>C (p.Gln872Pro)
c.2846A>C (p.Gln949Pro)
c.1772A>C (p.Gln591Pro)
n.2827A>C
1g.151406064G>ACA341947106POGZc.3019C>T (p.Gln1007Ter)
c.2812C>T (p.Gln938Ter)
c.2971C>T (p.Gln991Ter)
c.2992C>T (p.Gln998Ter)
n.3119C>T
c.2686C>T (p.Gln896Ter)
c.2944C>T (p.Gln982Ter)
c.2839C>T (p.Gln947Ter)
c.2785C>T (p.Gln929Ter)
c.2863C>T (p.Gln955Ter)
c.2614C>T (p.Gln872Ter)
c.2845C>T (p.Gln949Ter)
c.1771C>T (p.Gln591Ter)
n.2826C>T
1g.151406064G>CCA341947104POGZc.3019C>G (p.Gln1007Glu)
c.2812C>G (p.Gln938Glu)
c.2971C>G (p.Gln991Glu)
c.2992C>G (p.Gln998Glu)
n.3119C>G
c.2686C>G (p.Gln896Glu)
c.2944C>G (p.Gln982Glu)
c.2839C>G (p.Gln947Glu)
c.2785C>G (p.Gln929Glu)
c.2863C>G (p.Gln955Glu)
c.2614C>G (p.Gln872Glu)
c.2845C>G (p.Gln949Glu)
c.1771C>G (p.Gln591Glu)
n.2826C>G
1g.151406064G>TCA341947101POGZc.3019C>A (p.Gln1007Lys)
c.2812C>A (p.Gln938Lys)
c.2971C>A (p.Gln991Lys)
c.2992C>A (p.Gln998Lys)
n.3119C>A
c.2686C>A (p.Gln896Lys)
c.2944C>A (p.Gln982Lys)
c.2839C>A (p.Gln947Lys)
c.2785C>A (p.Gln929Lys)
c.2863C>A (p.Gln955Lys)
c.2614C>A (p.Gln872Lys)
c.2845C>A (p.Gln949Lys)
c.1771C>A (p.Gln591Lys)
n.2826C>A
1g.151406065T>ACA341947110POGZc.3018A>T (p.Glu1006Asp)
c.2811A>T (p.Glu937Asp)
c.2970A>T (p.Glu990Asp)
c.2991A>T (p.Glu997Asp)
n.3118A>T
c.2685A>T (p.Glu895Asp)
c.2943A>T (p.Glu981Asp)
c.2838A>T (p.Glu946Asp)
c.2784A>T (p.Glu928Asp)
c.2862A>T (p.Glu954Asp)
c.2613A>T (p.Glu871Asp)
c.2844A>T (p.Glu948Asp)
c.1770A>T (p.Glu590Asp)
n.2825A>T
 dbSNP
1g.151406065T>CCA420909886POGZc.3018A>G (p.Glu1006=)
c.2811A>G (p.Glu937=)
c.2970A>G (p.Glu990=)
c.2991A>G (p.Glu997=)
n.3118A>G
c.2685A>G (p.Glu895=)
c.2943A>G (p.Glu981=)
c.2838A>G (p.Glu946=)
c.2784A>G (p.Glu928=)
c.2862A>G (p.Glu954=)
c.2613A>G (p.Glu871=)
c.2844A>G (p.Glu948=)
c.1770A>G (p.Glu590=)
n.2825A>G
1g.151406065T>GCA341947111POGZc.3018A>C (p.Glu1006Asp)
c.2811A>C (p.Glu937Asp)
c.2970A>C (p.Glu990Asp)
c.2991A>C (p.Glu997Asp)
n.3118A>C
c.2685A>C (p.Glu895Asp)
c.2943A>C (p.Glu981Asp)
c.2838A>C (p.Glu946Asp)
c.2784A>C (p.Glu928Asp)
c.2862A>C (p.Glu954Asp)
c.2613A>C (p.Glu871Asp)
c.2844A>C (p.Glu948Asp)
c.1770A>C (p.Glu590Asp)
n.2825A>C
1g.151406066T>ACA341947112POGZc.3017A>T (p.Glu1006Val)
c.2810A>T (p.Glu937Val)
c.2969A>T (p.Glu990Val)
c.2990A>T (p.Glu997Val)
n.3117A>T
c.2684A>T (p.Glu895Val)
c.2942A>T (p.Glu981Val)
c.2837A>T (p.Glu946Val)
c.2783A>T (p.Glu928Val)
c.2861A>T (p.Glu954Val)
c.2612A>T (p.Glu871Val)
c.2843A>T (p.Glu948Val)
c.1769A>T (p.Glu590Val)
n.2824A>T
1g.151406066T>CCA341947114POGZc.3017A>G (p.Glu1006Gly)
c.2810A>G (p.Glu937Gly)
c.2969A>G (p.Glu990Gly)
c.2990A>G (p.Glu997Gly)
n.3117A>G
c.2684A>G (p.Glu895Gly)
c.2942A>G (p.Glu981Gly)
c.2837A>G (p.Glu946Gly)
c.2783A>G (p.Glu928Gly)
c.2861A>G (p.Glu954Gly)
c.2612A>G (p.Glu871Gly)
c.2843A>G (p.Glu948Gly)
c.1769A>G (p.Glu590Gly)
n.2824A>G
1g.151406066T>GCA341947116POGZc.3017A>C (p.Glu1006Ala)
c.2810A>C (p.Glu937Ala)
c.2969A>C (p.Glu990Ala)
c.2990A>C (p.Glu997Ala)
n.3117A>C
c.2684A>C (p.Glu895Ala)
c.2942A>C (p.Glu981Ala)
c.2837A>C (p.Glu946Ala)
c.2783A>C (p.Glu928Ala)
c.2861A>C (p.Glu954Ala)
c.2612A>C (p.Glu871Ala)
c.2843A>C (p.Glu948Ala)
c.1769A>C (p.Glu590Ala)
n.2824A>C
1g.151406067C>ACA341947119POGZc.3016G>T (p.Glu1006Ter)
c.2809G>T (p.Glu937Ter)
c.2968G>T (p.Glu990Ter)
c.2989G>T (p.Glu997Ter)
n.3116G>T
c.2683G>T (p.Glu895Ter)
c.2941G>T (p.Glu981Ter)
c.2836G>T (p.Glu946Ter)
c.2782G>T (p.Glu928Ter)
c.2860G>T (p.Glu954Ter)
c.2611G>T (p.Glu871Ter)
c.2842G>T (p.Glu948Ter)
c.1768G>T (p.Glu590Ter)
n.2823G>T
1g.151406067C=CA2479570503POGZc.3016G= (p.Glu1006=)
c.2809G= (p.Glu937=)
c.2968G= (p.Glu990=)
c.2989G= (p.Glu997=)
n.3116G=
c.2683G= (p.Glu895=)
c.2941G= (p.Glu981=)
c.2836G= (p.Glu946=)
c.2782G= (p.Glu928=)
c.2860G= (p.Glu954=)
c.2611G= (p.Glu871=)
c.2842G= (p.Glu948=)
c.1768G= (p.Glu590=)
n.2823G=
1g.151406067C>GCA341947126POGZc.3016G>C (p.Glu1006Gln)
c.2809G>C (p.Glu937Gln)
c.2968G>C (p.Glu990Gln)
c.2989G>C (p.Glu997Gln)
n.3116G>C
c.2683G>C (p.Glu895Gln)
c.2941G>C (p.Glu981Gln)
c.2836G>C (p.Glu946Gln)
c.2782G>C (p.Glu928Gln)
c.2860G>C (p.Glu954Gln)
c.2611G>C (p.Glu871Gln)
c.2842G>C (p.Glu948Gln)
c.1768G>C (p.Glu590Gln)
n.2823G>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.151406067C>TCA341947132POGZc.3016G>A (p.Glu1006Lys)
c.2809G>A (p.Glu937Lys)
c.2968G>A (p.Glu990Lys)
c.2989G>A (p.Glu997Lys)
n.3116G>A
c.2683G>A (p.Glu895Lys)
c.2941G>A (p.Glu981Lys)
c.2836G>A (p.Glu946Lys)
c.2782G>A (p.Glu928Lys)
c.2860G>A (p.Glu954Lys)
c.2611G>A (p.Glu871Lys)
c.2842G>A (p.Glu948Lys)
c.1768G>A (p.Glu590Lys)
n.2823G>A
1g.151406068T>ACA420909889POGZc.3015A>T (p.Thr1005=)
c.2808A>T (p.Thr936=)
c.2967A>T (p.Thr989=)
c.2988A>T (p.Thr996=)
n.3115A>T
c.2682A>T (p.Thr894=)
c.2940A>T (p.Thr980=)
c.2835A>T (p.Thr945=)
c.2781A>T (p.Thr927=)
c.2859A>T (p.Thr953=)
c.2610A>T (p.Thr870=)
c.2841A>T (p.Thr947=)
c.1767A>T (p.Thr589=)
n.2822A>T
1g.151406068T>CCA420909891POGZc.3015A>G (p.Thr1005=)
c.2808A>G (p.Thr936=)
c.2967A>G (p.Thr989=)
c.2988A>G (p.Thr996=)
n.3115A>G
c.2682A>G (p.Thr894=)
c.2940A>G (p.Thr980=)
c.2835A>G (p.Thr945=)
c.2781A>G (p.Thr927=)
c.2859A>G (p.Thr953=)
c.2610A>G (p.Thr870=)
c.2841A>G (p.Thr947=)
c.1767A>G (p.Thr589=)
n.2822A>G
1g.151406068T>GCA420909893POGZc.3015A>C (p.Thr1005=)
c.2808A>C (p.Thr936=)
c.2967A>C (p.Thr989=)
c.2988A>C (p.Thr996=)
n.3115A>C
c.2682A>C (p.Thr894=)
c.2940A>C (p.Thr980=)
c.2835A>C (p.Thr945=)
c.2781A>C (p.Thr927=)
c.2859A>C (p.Thr953=)
c.2610A>C (p.Thr870=)
c.2841A>C (p.Thr947=)
c.1767A>C (p.Thr589=)
n.2822A>C
1g.151406069G>ACA341947138POGZc.3014C>T (p.Thr1005Ile)
c.2807C>T (p.Thr936Ile)
c.2966C>T (p.Thr989Ile)
c.2987C>T (p.Thr996Ile)
n.3114C>T
c.2681C>T (p.Thr894Ile)
c.2939C>T (p.Thr980Ile)
c.2834C>T (p.Thr945Ile)
c.2780C>T (p.Thr927Ile)
c.2858C>T (p.Thr953Ile)
c.2609C>T (p.Thr870Ile)
c.2840C>T (p.Thr947Ile)
c.1766C>T (p.Thr589Ile)
n.2821C>T
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
1g.151406069G>CCA341947141POGZc.3014C>G (p.Thr1005Arg)
c.2807C>G (p.Thr936Arg)
c.2966C>G (p.Thr989Arg)
c.2987C>G (p.Thr996Arg)
n.3114C>G
c.2681C>G (p.Thr894Arg)
c.2939C>G (p.Thr980Arg)
c.2834C>G (p.Thr945Arg)
c.2780C>G (p.Thr927Arg)
c.2858C>G (p.Thr953Arg)
c.2609C>G (p.Thr870Arg)
c.2840C>G (p.Thr947Arg)
c.1766C>G (p.Thr589Arg)
n.2821C>G
1g.151406069G=CA2479570504POGZc.3014C= (p.Thr1005=)
c.2807C= (p.Thr936=)
c.2966C= (p.Thr989=)
c.2987C= (p.Thr996=)
n.3114C=
c.2681C= (p.Thr894=)
c.2939C= (p.Thr980=)
c.2834C= (p.Thr945=)
c.2780C= (p.Thr927=)
c.2858C= (p.Thr953=)
c.2609C= (p.Thr870=)
c.2840C= (p.Thr947=)
c.1766C= (p.Thr589=)
n.2821C=
1g.151406069G>TCA341947146POGZc.3014C>A (p.Thr1005Lys)
c.2807C>A (p.Thr936Lys)
c.2966C>A (p.Thr989Lys)
c.2987C>A (p.Thr996Lys)
n.3114C>A
c.2681C>A (p.Thr894Lys)
c.2939C>A (p.Thr980Lys)
c.2834C>A (p.Thr945Lys)
c.2780C>A (p.Thr927Lys)
c.2858C>A (p.Thr953Lys)
c.2609C>A (p.Thr870Lys)
c.2840C>A (p.Thr947Lys)
c.1766C>A (p.Thr589Lys)
n.2821C>A
1g.151406070T>ACA341947160POGZc.3013A>T (p.Thr1005Ser)
c.2806A>T (p.Thr936Ser)
c.2965A>T (p.Thr989Ser)
c.2986A>T (p.Thr996Ser)
n.3113A>T
c.2680A>T (p.Thr894Ser)
c.2938A>T (p.Thr980Ser)
c.2833A>T (p.Thr945Ser)
c.2779A>T (p.Thr927Ser)
c.2857A>T (p.Thr953Ser)
c.2608A>T (p.Thr870Ser)
c.2839A>T (p.Thr947Ser)
c.1765A>T (p.Thr589Ser)
n.2820A>T
 COSMIC COSMIC
1g.151406070T>CCA341947157POGZc.3013A>G (p.Thr1005Ala)
c.2806A>G (p.Thr936Ala)
c.2965A>G (p.Thr989Ala)
c.2986A>G (p.Thr996Ala)
n.3113A>G
c.2680A>G (p.Thr894Ala)
c.2938A>G (p.Thr980Ala)
c.2833A>G (p.Thr945Ala)
c.2779A>G (p.Thr927Ala)
c.2857A>G (p.Thr953Ala)
c.2608A>G (p.Thr870Ala)
c.2839A>G (p.Thr947Ala)
c.1765A>G (p.Thr589Ala)
n.2820A>G
1g.151406070T>GCA341947154POGZc.3013A>C (p.Thr1005Pro)
c.2806A>C (p.Thr936Pro)
c.2965A>C (p.Thr989Pro)
c.2986A>C (p.Thr996Pro)
n.3113A>C
c.2680A>C (p.Thr894Pro)
c.2938A>C (p.Thr980Pro)
c.2833A>C (p.Thr945Pro)
c.2779A>C (p.Thr927Pro)
c.2857A>C (p.Thr953Pro)
c.2608A>C (p.Thr870Pro)
c.2839A>C (p.Thr947Pro)
c.1765A>C (p.Thr589Pro)
n.2820A>C
1g.151406071A>CCA341947161POGZc.3012T>G (p.Asn1004Lys)
c.2805T>G (p.Asn935Lys)
c.2964T>G (p.Asn988Lys)
c.2985T>G (p.Asn995Lys)
n.3112T>G
c.2679T>G (p.Asn893Lys)
c.2937T>G (p.Asn979Lys)
c.2832T>G (p.Asn944Lys)
c.2778T>G (p.Asn926Lys)
c.2856T>G (p.Asn952Lys)
c.2607T>G (p.Asn869Lys)
c.2838T>G (p.Asn946Lys)
c.1764T>G (p.Asn588Lys)
n.2819T>G
1g.151406071A>GCA420909898POGZc.3012T>C (p.Asn1004=)
c.2805T>C (p.Asn935=)
c.2964T>C (p.Asn988=)
c.2985T>C (p.Asn995=)
n.3112T>C
c.2679T>C (p.Asn893=)
c.2937T>C (p.Asn979=)
c.2832T>C (p.Asn944=)
c.2778T>C (p.Asn926=)
c.2856T>C (p.Asn952=)
c.2607T>C (p.Asn869=)
c.2838T>C (p.Asn946=)
c.1764T>C (p.Asn588=)
n.2819T>C
 gnomAD v4
1g.151406071A>TCA341947163POGZc.3012T>A (p.Asn1004Lys)
c.2805T>A (p.Asn935Lys)
c.2964T>A (p.Asn988Lys)
c.2985T>A (p.Asn995Lys)
n.3112T>A
c.2679T>A (p.Asn893Lys)
c.2937T>A (p.Asn979Lys)
c.2832T>A (p.Asn944Lys)
c.2778T>A (p.Asn926Lys)
c.2856T>A (p.Asn952Lys)
c.2607T>A (p.Asn869Lys)
c.2838T>A (p.Asn946Lys)
c.1764T>A (p.Asn588Lys)
n.2819T>A
1g.151406072T>ACA341947170POGZc.3011A>T (p.Asn1004Ile)
c.2804A>T (p.Asn935Ile)
c.2963A>T (p.Asn988Ile)
c.2984A>T (p.Asn995Ile)
n.3111A>T
c.2678A>T (p.Asn893Ile)
c.2936A>T (p.Asn979Ile)
c.2831A>T (p.Asn944Ile)
c.2777A>T (p.Asn926Ile)
c.2855A>T (p.Asn952Ile)
c.2606A>T (p.Asn869Ile)
c.2837A>T (p.Asn946Ile)
c.1763A>T (p.Asn588Ile)
n.2818A>T
1g.151406072T>CCA29569191POGZc.3011A>G (p.Asn1004Ser)
c.2804A>G (p.Asn935Ser)
c.2963A>G (p.Asn988Ser)
c.2984A>G (p.Asn995Ser)
n.3111A>G
c.2678A>G (p.Asn893Ser)
c.2936A>G (p.Asn979Ser)
c.2831A>G (p.Asn944Ser)
c.2777A>G (p.Asn926Ser)
c.2855A>G (p.Asn952Ser)
c.2606A>G (p.Asn869Ser)
c.2837A>G (p.Asn946Ser)
c.1763A>G (p.Asn588Ser)
n.2818A>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.151406072T>GCA341947176POGZc.3011A>C (p.Asn1004Thr)
c.2804A>C (p.Asn935Thr)
c.2963A>C (p.Asn988Thr)
c.2984A>C (p.Asn995Thr)
n.3111A>C
c.2678A>C (p.Asn893Thr)
c.2936A>C (p.Asn979Thr)
c.2831A>C (p.Asn944Thr)
c.2777A>C (p.Asn926Thr)
c.2855A>C (p.Asn952Thr)
c.2606A>C (p.Asn869Thr)
c.2837A>C (p.Asn946Thr)
c.1763A>C (p.Asn588Thr)
n.2818A>C
1g.151406072T=CA2479570505POGZc.3011A= (p.Asn1004=)
c.2804A= (p.Asn935=)
c.2963A= (p.Asn988=)
c.2984A= (p.Asn995=)
n.3111A=
c.2678A= (p.Asn893=)
c.2936A= (p.Asn979=)
c.2831A= (p.Asn944=)
c.2777A= (p.Asn926=)
c.2855A= (p.Asn952=)
c.2606A= (p.Asn869=)
c.2837A= (p.Asn946=)
c.1763A= (p.Asn588=)
n.2818A=
1g.151406073T>ACA341947177POGZc.3010A>T (p.Asn1004Tyr)
c.2803A>T (p.Asn935Tyr)
c.2962A>T (p.Asn988Tyr)
c.2983A>T (p.Asn995Tyr)
n.3110A>T
c.2677A>T (p.Asn893Tyr)
c.2935A>T (p.Asn979Tyr)
c.2830A>T (p.Asn944Tyr)
c.2776A>T (p.Asn926Tyr)
c.2854A>T (p.Asn952Tyr)
c.2605A>T (p.Asn869Tyr)
c.2836A>T (p.Asn946Tyr)
c.1762A>T (p.Asn588Tyr)
n.2817A>T
1g.151406073T>CCA341947178POGZc.3010A>G (p.Asn1004Asp)
c.2803A>G (p.Asn935Asp)
c.2962A>G (p.Asn988Asp)
c.2983A>G (p.Asn995Asp)
n.3110A>G
c.2677A>G (p.Asn893Asp)
c.2935A>G (p.Asn979Asp)
c.2830A>G (p.Asn944Asp)
c.2776A>G (p.Asn926Asp)
c.2854A>G (p.Asn952Asp)
c.2605A>G (p.Asn869Asp)
c.2836A>G (p.Asn946Asp)
c.1762A>G (p.Asn588Asp)
n.2817A>G
 gnomAD v4
1g.151406073T>GCA341947179POGZc.3010A>C (p.Asn1004His)
c.2803A>C (p.Asn935His)
c.2962A>C (p.Asn988His)
c.2983A>C (p.Asn995His)
n.3110A>C
c.2677A>C (p.Asn893His)
c.2935A>C (p.Asn979His)
c.2830A>C (p.Asn944His)
c.2776A>C (p.Asn926His)
c.2854A>C (p.Asn952His)
c.2605A>C (p.Asn869His)
c.2836A>C (p.Asn946His)
c.1762A>C (p.Asn588His)
n.2817A>C
1g.151406074G>ACA420909901POGZc.3009C>T (p.Cys1003=)
c.2802C>T (p.Cys934=)
c.2961C>T (p.Cys987=)
c.2982C>T (p.Cys994=)
n.3109C>T
c.2676C>T (p.Cys892=)
c.2934C>T (p.Cys978=)
c.2829C>T (p.Cys943=)
c.2775C>T (p.Cys925=)
c.2853C>T (p.Cys951=)
c.2604C>T (p.Cys868=)
c.2835C>T (p.Cys945=)
c.1761C>T (p.Cys587=)
n.2816C>T
1g.151406074G>CCA341947182POGZc.3009C>G (p.Cys1003Trp)
c.2802C>G (p.Cys934Trp)
c.2961C>G (p.Cys987Trp)
c.2982C>G (p.Cys994Trp)
n.3109C>G
c.2676C>G (p.Cys892Trp)
c.2934C>G (p.Cys978Trp)
c.2829C>G (p.Cys943Trp)
c.2775C>G (p.Cys925Trp)
c.2853C>G (p.Cys951Trp)
c.2604C>G (p.Cys868Trp)
c.2835C>G (p.Cys945Trp)
c.1761C>G (p.Cys587Trp)
n.2816C>G
1g.151406074G>TCA341947184POGZc.3009C>A (p.Cys1003Ter)
c.2802C>A (p.Cys934Ter)
c.2961C>A (p.Cys987Ter)
c.2982C>A (p.Cys994Ter)
n.3109C>A
c.2676C>A (p.Cys892Ter)
c.2934C>A (p.Cys978Ter)
c.2829C>A (p.Cys943Ter)
c.2775C>A (p.Cys925Ter)
c.2853C>A (p.Cys951Ter)
c.2604C>A (p.Cys868Ter)
c.2835C>A (p.Cys945Ter)
c.1761C>A (p.Cys587Ter)
n.2816C>A
1g.151406075C>ACA341947192POGZc.3008G>T (p.Cys1003Phe)
c.2801G>T (p.Cys934Phe)
c.2960G>T (p.Cys987Phe)
c.2981G>T (p.Cys994Phe)
n.3108G>T
c.2675G>T (p.Cys892Phe)
c.2933G>T (p.Cys978Phe)
c.2828G>T (p.Cys943Phe)
c.2774G>T (p.Cys925Phe)
c.2852G>T (p.Cys951Phe)
c.2603G>T (p.Cys868Phe)
c.2834G>T (p.Cys945Phe)
c.1760G>T (p.Cys587Phe)
n.2815G>T
1g.151406075C=CA2479570506POGZc.3008G= (p.Cys1003=)
c.2801G= (p.Cys934=)
c.2960G= (p.Cys987=)
c.2981G= (p.Cys994=)
n.3108G=
c.2675G= (p.Cys892=)
c.2933G= (p.Cys978=)
c.2828G= (p.Cys943=)
c.2774G= (p.Cys925=)
c.2852G= (p.Cys951=)
c.2603G= (p.Cys868=)
c.2834G= (p.Cys945=)
c.1760G= (p.Cys587=)
n.2815G=
1g.151406075C>GCA341947193POGZc.3008G>C (p.Cys1003Ser)
c.2801G>C (p.Cys934Ser)
c.2960G>C (p.Cys987Ser)
c.2981G>C (p.Cys994Ser)
n.3108G>C
c.2675G>C (p.Cys892Ser)
c.2933G>C (p.Cys978Ser)
c.2828G>C (p.Cys943Ser)
c.2774G>C (p.Cys925Ser)
c.2852G>C (p.Cys951Ser)
c.2603G>C (p.Cys868Ser)
c.2834G>C (p.Cys945Ser)
c.1760G>C (p.Cys587Ser)
n.2815G>C
1g.151406075C>TCA341947197POGZc.3008G>A (p.Cys1003Tyr)
c.2801G>A (p.Cys934Tyr)
c.2960G>A (p.Cys987Tyr)
c.2981G>A (p.Cys994Tyr)
n.3108G>A
c.2675G>A (p.Cys892Tyr)
c.2933G>A (p.Cys978Tyr)
c.2828G>A (p.Cys943Tyr)
c.2774G>A (p.Cys925Tyr)
c.2852G>A (p.Cys951Tyr)
c.2603G>A (p.Cys868Tyr)
c.2834G>A (p.Cys945Tyr)
c.1760G>A (p.Cys587Tyr)
n.2815G>A
 dbSNP gnomAD v2 gnomAD v4
1g.151406076A>CCA341947211POGZc.3007T>G (p.Cys1003Gly)
c.2800T>G (p.Cys934Gly)
c.2959T>G (p.Cys987Gly)
c.2980T>G (p.Cys994Gly)
n.3107T>G
c.2674T>G (p.Cys892Gly)
c.2932T>G (p.Cys978Gly)
c.2827T>G (p.Cys943Gly)
c.2773T>G (p.Cys925Gly)
c.2851T>G (p.Cys951Gly)
c.2602T>G (p.Cys868Gly)
c.2833T>G (p.Cys945Gly)
c.1759T>G (p.Cys587Gly)
n.2814T>G
1g.151406076A>GCA341947208POGZc.3007T>C (p.Cys1003Arg)
c.2800T>C (p.Cys934Arg)
c.2959T>C (p.Cys987Arg)
c.2980T>C (p.Cys994Arg)
n.3107T>C
c.2674T>C (p.Cys892Arg)
c.2932T>C (p.Cys978Arg)
c.2827T>C (p.Cys943Arg)
c.2773T>C (p.Cys925Arg)
c.2851T>C (p.Cys951Arg)
c.2602T>C (p.Cys868Arg)
c.2833T>C (p.Cys945Arg)
c.1759T>C (p.Cys587Arg)
n.2814T>C
1g.151406076A>TCA341947205POGZc.3007T>A (p.Cys1003Ser)
c.2800T>A (p.Cys934Ser)
c.2959T>A (p.Cys987Ser)
c.2980T>A (p.Cys994Ser)
n.3107T>A
c.2674T>A (p.Cys892Ser)
c.2932T>A (p.Cys978Ser)
c.2827T>A (p.Cys943Ser)
c.2773T>A (p.Cys925Ser)
c.2851T>A (p.Cys951Ser)
c.2602T>A (p.Cys868Ser)
c.2833T>A (p.Cys945Ser)
c.1759T>A (p.Cys587Ser)
n.2814T>A
 gnomAD v4
1g.151406077G>ACA420909909POGZc.3006C>T (p.Cys1002=)
c.2799C>T (p.Cys933=)
c.2958C>T (p.Cys986=)
c.2979C>T (p.Cys993=)
n.3106C>T
c.2673C>T (p.Cys891=)
c.2931C>T (p.Cys977=)
c.2826C>T (p.Cys942=)
c.2772C>T (p.Cys924=)
c.2850C>T (p.Cys950=)
c.2601C>T (p.Cys867=)
c.2832C>T (p.Cys944=)
c.1758C>T (p.Cys586=)
n.2813C>T
 dbSNP gnomAD v2 gnomAD v4
1g.151406077G>CCA341947218POGZc.3006C>G (p.Cys1002Trp)
c.2799C>G (p.Cys933Trp)
c.2958C>G (p.Cys986Trp)
c.2979C>G (p.Cys993Trp)
n.3106C>G
c.2673C>G (p.Cys891Trp)
c.2931C>G (p.Cys977Trp)
c.2826C>G (p.Cys942Trp)
c.2772C>G (p.Cys924Trp)
c.2850C>G (p.Cys950Trp)
c.2601C>G (p.Cys867Trp)
c.2832C>G (p.Cys944Trp)
c.1758C>G (p.Cys586Trp)
n.2813C>G
1g.151406077G=CA2479570507POGZc.3006C= (p.Cys1002=)
c.2799C= (p.Cys933=)
c.2958C= (p.Cys986=)
c.2979C= (p.Cys993=)
n.3106C=
c.2673C= (p.Cys891=)
c.2931C= (p.Cys977=)
c.2826C= (p.Cys942=)
c.2772C= (p.Cys924=)
c.2850C= (p.Cys950=)
c.2601C= (p.Cys867=)
c.2832C= (p.Cys944=)
c.1758C= (p.Cys586=)
n.2813C=
1g.151406077G>TCA341947214POGZc.3006C>A (p.Cys1002Ter)
c.2799C>A (p.Cys933Ter)
c.2958C>A (p.Cys986Ter)
c.2979C>A (p.Cys993Ter)
n.3106C>A
c.2673C>A (p.Cys891Ter)
c.2931C>A (p.Cys977Ter)
c.2826C>A (p.Cys942Ter)
c.2772C>A (p.Cys924Ter)
c.2850C>A (p.Cys950Ter)
c.2601C>A (p.Cys867Ter)
c.2832C>A (p.Cys944Ter)
c.1758C>A (p.Cys586Ter)
n.2813C>A
1g.151406078C>ACA341947221POGZc.3005G>T (p.Cys1002Phe)
c.2798G>T (p.Cys933Phe)
c.2957G>T (p.Cys986Phe)
c.2978G>T (p.Cys993Phe)
n.3105G>T
c.2672G>T (p.Cys891Phe)
c.2930G>T (p.Cys977Phe)
c.2825G>T (p.Cys942Phe)
c.2771G>T (p.Cys924Phe)
c.2849G>T (p.Cys950Phe)
c.2600G>T (p.Cys867Phe)
c.2831G>T (p.Cys944Phe)
c.1757G>T (p.Cys586Phe)
n.2812G>T
1g.151406078C>GCA341947219POGZc.3005G>C (p.Cys1002Ser)
c.2798G>C (p.Cys933Ser)
c.2957G>C (p.Cys986Ser)
c.2978G>C (p.Cys993Ser)
n.3105G>C
c.2672G>C (p.Cys891Ser)
c.2930G>C (p.Cys977Ser)
c.2825G>C (p.Cys942Ser)
c.2771G>C (p.Cys924Ser)
c.2849G>C (p.Cys950Ser)
c.2600G>C (p.Cys867Ser)
c.2831G>C (p.Cys944Ser)
c.1757G>C (p.Cys586Ser)
n.2812G>C
1g.151406078C>TCA341947220POGZc.3005G>A (p.Cys1002Tyr)
c.2798G>A (p.Cys933Tyr)
c.2957G>A (p.Cys986Tyr)
c.2978G>A (p.Cys993Tyr)
n.3105G>A
c.2672G>A (p.Cys891Tyr)
c.2930G>A (p.Cys977Tyr)
c.2825G>A (p.Cys942Tyr)
c.2771G>A (p.Cys924Tyr)
c.2849G>A (p.Cys950Tyr)
c.2600G>A (p.Cys867Tyr)
c.2831G>A (p.Cys944Tyr)
c.1757G>A (p.Cys586Tyr)
n.2812G>A
1g.151406079A>CCA341947227POGZc.3004T>G (p.Cys1002Gly)
c.2797T>G (p.Cys933Gly)
c.2956T>G (p.Cys986Gly)
c.2977T>G (p.Cys993Gly)
n.3104T>G
c.2671T>G (p.Cys891Gly)
c.2929T>G (p.Cys977Gly)
c.2824T>G (p.Cys942Gly)
c.2770T>G (p.Cys924Gly)
c.2848T>G (p.Cys950Gly)
c.2599T>G (p.Cys867Gly)
c.2830T>G (p.Cys944Gly)
c.1756T>G (p.Cys586Gly)
n.2811T>G
1g.151406079A>GCA341947230POGZc.3004T>C (p.Cys1002Arg)
c.2797T>C (p.Cys933Arg)
c.2956T>C (p.Cys986Arg)
c.2977T>C (p.Cys993Arg)
n.3104T>C
c.2671T>C (p.Cys891Arg)
c.2929T>C (p.Cys977Arg)
c.2824T>C (p.Cys942Arg)
c.2770T>C (p.Cys924Arg)
c.2848T>C (p.Cys950Arg)
c.2599T>C (p.Cys867Arg)
c.2830T>C (p.Cys944Arg)
c.1756T>C (p.Cys586Arg)
n.2811T>C
1g.151406079A>TCA341947232POGZc.3004T>A (p.Cys1002Ser)
c.2797T>A (p.Cys933Ser)
c.2956T>A (p.Cys986Ser)
c.2977T>A (p.Cys993Ser)
n.3104T>A
c.2671T>A (p.Cys891Ser)
c.2929T>A (p.Cys977Ser)
c.2824T>A (p.Cys942Ser)
c.2770T>A (p.Cys924Ser)
c.2848T>A (p.Cys950Ser)
c.2599T>A (p.Cys867Ser)
c.2830T>A (p.Cys944Ser)
c.1756T>A (p.Cys586Ser)
n.2811T>A
1g.151406080T>ACA420909913POGZc.3003A>T (p.Leu1001=)
c.2796A>T (p.Leu932=)
c.2955A>T (p.Leu985=)
c.2976A>T (p.Leu992=)
n.3103A>T
c.2670A>T (p.Leu890=)
c.2928A>T (p.Leu976=)
c.2823A>T (p.Leu941=)
c.2769A>T (p.Leu923=)
c.2847A>T (p.Leu949=)
c.2598A>T (p.Leu866=)
c.2829A>T (p.Leu943=)
c.1755A>T (p.Leu585=)
n.2810A>T
1g.151406080T>CCA1091029POGZc.3003A>G (p.Leu1001=)
c.2796A>G (p.Leu932=)
c.2955A>G (p.Leu985=)
c.2976A>G (p.Leu992=)
n.3103A>G
c.2670A>G (p.Leu890=)
c.2928A>G (p.Leu976=)
c.2823A>G (p.Leu941=)
c.2769A>G (p.Leu923=)
c.2847A>G (p.Leu949=)
c.2598A>G (p.Leu866=)
c.2829A>G (p.Leu943=)
c.1755A>G (p.Leu585=)
n.2810A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.151406080T>GCA420909914POGZc.3003A>C (p.Leu1001=)
c.2796A>C (p.Leu932=)
c.2955A>C (p.Leu985=)
c.2976A>C (p.Leu992=)
n.3103A>C
c.2670A>C (p.Leu890=)
c.2928A>C (p.Leu976=)
c.2823A>C (p.Leu941=)
c.2769A>C (p.Leu923=)
c.2847A>C (p.Leu949=)
c.2598A>C (p.Leu866=)
c.2829A>C (p.Leu943=)
c.1755A>C (p.Leu585=)
n.2810A>C
1g.151406080T=CA1142033990POGZc.3003A= (p.Leu1001=)
c.2796A= (p.Leu932=)
c.2955A= (p.Leu985=)
c.2976A= (p.Leu992=)
n.3103A=
c.2670A= (p.Leu890=)
c.2928A= (p.Leu976=)
c.2823A= (p.Leu941=)
c.2769A= (p.Leu923=)
c.2847A= (p.Leu949=)
c.2598A= (p.Leu866=)
c.2829A= (p.Leu943=)
c.1755A= (p.Leu585=)
n.2810A=
1g.151406081A>CCA341947236POGZc.3002T>G (p.Leu1001Arg)
c.2795T>G (p.Leu932Arg)
c.2954T>G (p.Leu985Arg)
c.2975T>G (p.Leu992Arg)
n.3102T>G
c.2669T>G (p.Leu890Arg)
c.2927T>G (p.Leu976Arg)
c.2822T>G (p.Leu941Arg)
c.2768T>G (p.Leu923Arg)
c.2846T>G (p.Leu949Arg)
c.2597T>G (p.Leu866Arg)
c.2828T>G (p.Leu943Arg)
c.1754T>G (p.Leu585Arg)
n.2809T>G
1g.151406081A>GCA341947237POGZc.3002T>C (p.Leu1001Pro)
c.2795T>C (p.Leu932Pro)
c.2954T>C (p.Leu985Pro)
c.2975T>C (p.Leu992Pro)
n.3102T>C
c.2669T>C (p.Leu890Pro)
c.2927T>C (p.Leu976Pro)
c.2822T>C (p.Leu941Pro)
c.2768T>C (p.Leu923Pro)
c.2846T>C (p.Leu949Pro)
c.2597T>C (p.Leu866Pro)
c.2828T>C (p.Leu943Pro)
c.1754T>C (p.Leu585Pro)
n.2809T>C
1g.151406081A>TCA341947238POGZc.3002T>A (p.Leu1001Gln)
c.2795T>A (p.Leu932Gln)
c.2954T>A (p.Leu985Gln)
c.2975T>A (p.Leu992Gln)
n.3102T>A
c.2669T>A (p.Leu890Gln)
c.2927T>A (p.Leu976Gln)
c.2822T>A (p.Leu941Gln)
c.2768T>A (p.Leu923Gln)
c.2846T>A (p.Leu949Gln)
c.2597T>A (p.Leu866Gln)
c.2828T>A (p.Leu943Gln)
c.1754T>A (p.Leu585Gln)
n.2809T>A
1g.151406082G>ACA420909815POGZc.3001C>T (p.Leu1001=)
c.2794C>T (p.Leu932=)
c.2953C>T (p.Leu985=)
c.2974C>T (p.Leu992=)
n.3101C>T
c.2668C>T (p.Leu890=)
c.2926C>T (p.Leu976=)
c.2821C>T (p.Leu941=)
c.2767C>T (p.Leu923=)
c.2845C>T (p.Leu949=)
c.2596C>T (p.Leu866=)
c.2827C>T (p.Leu943=)
c.1753C>T (p.Leu585=)
n.2808C>T
 dbSNP gnomAD v3 gnomAD v4
1g.151406082G>CCA341947241POGZc.3001C>G (p.Leu1001Val)
c.2794C>G (p.Leu932Val)
c.2953C>G (p.Leu985Val)
c.2974C>G (p.Leu992Val)
n.3101C>G
c.2668C>G (p.Leu890Val)
c.2926C>G (p.Leu976Val)
c.2821C>G (p.Leu941Val)
c.2767C>G (p.Leu923Val)
c.2845C>G (p.Leu949Val)
c.2596C>G (p.Leu866Val)
c.2827C>G (p.Leu943Val)
c.1753C>G (p.Leu585Val)
n.2808C>G
 gnomAD v4 COSMIC COSMIC
1g.151406082G=CA2479570508POGZc.3001C= (p.Leu1001=)
c.2794C= (p.Leu932=)
c.2953C= (p.Leu985=)
c.2974C= (p.Leu992=)
n.3101C=
c.2668C= (p.Leu890=)
c.2926C= (p.Leu976=)
c.2821C= (p.Leu941=)
c.2767C= (p.Leu923=)
c.2845C= (p.Leu949=)
c.2596C= (p.Leu866=)
c.2827C= (p.Leu943=)
c.1753C= (p.Leu585=)
n.2808C=
1g.151406082G>TCA341947243POGZc.3001C>A (p.Leu1001Ile)
c.2794C>A (p.Leu932Ile)
c.2953C>A (p.Leu985Ile)
c.2974C>A (p.Leu992Ile)
n.3101C>A
c.2668C>A (p.Leu890Ile)
c.2926C>A (p.Leu976Ile)
c.2821C>A (p.Leu941Ile)
c.2767C>A (p.Leu923Ile)
c.2845C>A (p.Leu949Ile)
c.2596C>A (p.Leu866Ile)
c.2827C>A (p.Leu943Ile)
c.1753C>A (p.Leu585Ile)
n.2808C>A
1g.151406083A=CA1143682428POGZc.3000T= (p.Ala1000=)
c.2793T= (p.Ala931=)
c.2952T= (p.Ala984=)
c.2973T= (p.Ala991=)
n.3100T=
c.2667T= (p.Ala889=)
c.2925T= (p.Ala975=)
c.2820T= (p.Ala940=)
c.2766T= (p.Ala922=)
c.2844T= (p.Ala948=)
c.2595T= (p.Ala865=)
c.2826T= (p.Ala942=)
c.1752T= (p.Ala584=)
n.2807T=
1g.151406083A>CCA1091030POGZc.3000T>G (p.Ala1000=)
c.2793T>G (p.Ala931=)
c.2952T>G (p.Ala984=)
c.2973T>G (p.Ala991=)
n.3100T>G
c.2667T>G (p.Ala889=)
c.2925T>G (p.Ala975=)
c.2820T>G (p.Ala940=)
c.2766T>G (p.Ala922=)
c.2844T>G (p.Ala948=)
c.2595T>G (p.Ala865=)
c.2826T>G (p.Ala942=)
c.1752T>G (p.Ala584=)
n.2807T>G
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.151406083A>GCA420909830POGZc.3000T>C (p.Ala1000=)
c.2793T>C (p.Ala931=)
c.2952T>C (p.Ala984=)
c.2973T>C (p.Ala991=)
n.3100T>C
c.2667T>C (p.Ala889=)
c.2925T>C (p.Ala975=)
c.2820T>C (p.Ala940=)
c.2766T>C (p.Ala922=)
c.2844T>C (p.Ala948=)
c.2595T>C (p.Ala865=)
c.2826T>C (p.Ala942=)
c.1752T>C (p.Ala584=)
n.2807T>C
1g.151406083A>TCA420909827POGZc.3000T>A (p.Ala1000=)
c.2793T>A (p.Ala931=)
c.2952T>A (p.Ala984=)
c.2973T>A (p.Ala991=)
n.3100T>A
c.2667T>A (p.Ala889=)
c.2925T>A (p.Ala975=)
c.2820T>A (p.Ala940=)
c.2766T>A (p.Ala922=)
c.2844T>A (p.Ala948=)
c.2595T>A (p.Ala865=)
c.2826T>A (p.Ala942=)
c.1752T>A (p.Ala584=)
n.2807T>A
 gnomAD v4
1g.151406084G>ACA341947249POGZc.2999C>T (p.Ala1000Val)
c.2792C>T (p.Ala931Val)
c.2951C>T (p.Ala984Val)
c.2972C>T (p.Ala991Val)
n.3099C>T
c.2666C>T (p.Ala889Val)
c.2924C>T (p.Ala975Val)
c.2819C>T (p.Ala940Val)
c.2765C>T (p.Ala922Val)
c.2843C>T (p.Ala948Val)
c.2594C>T (p.Ala865Val)
c.2825C>T (p.Ala942Val)
c.1751C>T (p.Ala584Val)
n.2806C>T
1g.151406084G>CCA341947247POGZc.2999C>G (p.Ala1000Gly)
c.2792C>G (p.Ala931Gly)
c.2951C>G (p.Ala984Gly)
c.2972C>G (p.Ala991Gly)
n.3099C>G
c.2666C>G (p.Ala889Gly)
c.2924C>G (p.Ala975Gly)
c.2819C>G (p.Ala940Gly)
c.2765C>G (p.Ala922Gly)
c.2843C>G (p.Ala948Gly)
c.2594C>G (p.Ala865Gly)
c.2825C>G (p.Ala942Gly)
c.1751C>G (p.Ala584Gly)
n.2806C>G
 gnomAD v4
1g.151406084G>TCA341947245POGZc.2999C>A (p.Ala1000Asp)
c.2792C>A (p.Ala931Asp)
c.2951C>A (p.Ala984Asp)
c.2972C>A (p.Ala991Asp)
n.3099C>A
c.2666C>A (p.Ala889Asp)
c.2924C>A (p.Ala975Asp)
c.2819C>A (p.Ala940Asp)
c.2765C>A (p.Ala922Asp)
c.2843C>A (p.Ala948Asp)
c.2594C>A (p.Ala865Asp)
c.2825C>A (p.Ala942Asp)
c.1751C>A (p.Ala584Asp)
n.2806C>A
1g.151406085C>ACA341947253POGZc.2998G>T (p.Ala1000Ser)
c.2791G>T (p.Ala931Ser)
c.2950G>T (p.Ala984Ser)
c.2971G>T (p.Ala991Ser)
n.3098G>T
c.2665G>T (p.Ala889Ser)
c.2923G>T (p.Ala975Ser)
c.2818G>T (p.Ala940Ser)
c.2764G>T (p.Ala922Ser)
c.2842G>T (p.Ala948Ser)
c.2593G>T (p.Ala865Ser)
c.2824G>T (p.Ala942Ser)
c.1750G>T (p.Ala584Ser)
n.2805G>T
1g.151406085C>GCA341947256POGZc.2998G>C (p.Ala1000Pro)
c.2791G>C (p.Ala931Pro)
c.2950G>C (p.Ala984Pro)
c.2971G>C (p.Ala991Pro)
n.3098G>C
c.2665G>C (p.Ala889Pro)
c.2923G>C (p.Ala975Pro)
c.2818G>C (p.Ala940Pro)
c.2764G>C (p.Ala922Pro)
c.2842G>C (p.Ala948Pro)
c.2593G>C (p.Ala865Pro)
c.2824G>C (p.Ala942Pro)
c.1750G>C (p.Ala584Pro)
n.2805G>C
1g.151406085C>TCA341947260POGZc.2998G>A (p.Ala1000Thr)
c.2791G>A (p.Ala931Thr)
c.2950G>A (p.Ala984Thr)
c.2971G>A (p.Ala991Thr)
n.3098G>A
c.2665G>A (p.Ala889Thr)
c.2923G>A (p.Ala975Thr)
c.2818G>A (p.Ala940Thr)
c.2764G>A (p.Ala922Thr)
c.2842G>A (p.Ala948Thr)
c.2593G>A (p.Ala865Thr)
c.2824G>A (p.Ala942Thr)
c.1750G>A (p.Ala584Thr)
n.2805G>A
1g.151406086A=CA2479570509POGZc.2997T= (p.Phe999=)
c.2790T= (p.Phe930=)
c.2949T= (p.Phe983=)
c.2970T= (p.Phe990=)
n.3097T=
c.2664T= (p.Phe888=)
c.2922T= (p.Phe974=)
c.2817T= (p.Phe939=)
c.2763T= (p.Phe921=)
c.2841T= (p.Phe947=)
c.2592T= (p.Phe864=)
c.2823T= (p.Phe941=)
c.1749T= (p.Phe583=)
n.2804T=
1g.151406086A>CCA341947265POGZc.2997T>G (p.Phe999Leu)
c.2790T>G (p.Phe930Leu)
c.2949T>G (p.Phe983Leu)
c.2970T>G (p.Phe990Leu)
n.3097T>G
c.2664T>G (p.Phe888Leu)
c.2922T>G (p.Phe974Leu)
c.2817T>G (p.Phe939Leu)
c.2763T>G (p.Phe921Leu)
c.2841T>G (p.Phe947Leu)
c.2592T>G (p.Phe864Leu)
c.2823T>G (p.Phe941Leu)
c.1749T>G (p.Phe583Leu)
n.2804T>G
1g.151406086A>GCA1091031POGZc.2997T>C (p.Phe999=)
c.2790T>C (p.Phe930=)
c.2949T>C (p.Phe983=)
c.2970T>C (p.Phe990=)
n.3097T>C
c.2664T>C (p.Phe888=)
c.2922T>C (p.Phe974=)
c.2817T>C (p.Phe939=)
c.2763T>C (p.Phe921=)
c.2841T>C (p.Phe947=)
c.2592T>C (p.Phe864=)
c.2823T>C (p.Phe941=)
c.1749T>C (p.Phe583=)
n.2804T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.151406086A>TCA341947279POGZc.2997T>A (p.Phe999Leu)
c.2790T>A (p.Phe930Leu)
c.2949T>A (p.Phe983Leu)
c.2970T>A (p.Phe990Leu)
n.3097T>A
c.2664T>A (p.Phe888Leu)
c.2922T>A (p.Phe974Leu)
c.2817T>A (p.Phe939Leu)
c.2763T>A (p.Phe921Leu)
c.2841T>A (p.Phe947Leu)
c.2592T>A (p.Phe864Leu)
c.2823T>A (p.Phe941Leu)
c.1749T>A (p.Phe583Leu)
n.2804T>A
1g.151406087A>CCA341947284POGZc.2996T>G (p.Phe999Cys)
c.2789T>G (p.Phe930Cys)
c.2948T>G (p.Phe983Cys)
c.2969T>G (p.Phe990Cys)
n.3096T>G
c.2663T>G (p.Phe888Cys)
c.2921T>G (p.Phe974Cys)
c.2816T>G (p.Phe939Cys)
c.2762T>G (p.Phe921Cys)
c.2840T>G (p.Phe947Cys)
c.2591T>G (p.Phe864Cys)
c.2822T>G (p.Phe941Cys)
c.1748T>G (p.Phe583Cys)
n.2803T>G
1g.151406087A>GCA341947287POGZc.2996T>C (p.Phe999Ser)
c.2789T>C (p.Phe930Ser)
c.2948T>C (p.Phe983Ser)
c.2969T>C (p.Phe990Ser)
n.3096T>C
c.2663T>C (p.Phe888Ser)
c.2921T>C (p.Phe974Ser)
c.2816T>C (p.Phe939Ser)
c.2762T>C (p.Phe921Ser)
c.2840T>C (p.Phe947Ser)
c.2591T>C (p.Phe864Ser)
c.2822T>C (p.Phe941Ser)
c.1748T>C (p.Phe583Ser)
n.2803T>C
1g.151406087A>TCA341947291POGZc.2996T>A (p.Phe999Tyr)
c.2789T>A (p.Phe930Tyr)
c.2948T>A (p.Phe983Tyr)
c.2969T>A (p.Phe990Tyr)
n.3096T>A
c.2663T>A (p.Phe888Tyr)
c.2921T>A (p.Phe974Tyr)
c.2816T>A (p.Phe939Tyr)
c.2762T>A (p.Phe921Tyr)
c.2840T>A (p.Phe947Tyr)
c.2591T>A (p.Phe864Tyr)
c.2822T>A (p.Phe941Tyr)
c.1748T>A (p.Phe583Tyr)
n.2803T>A
1g.151406088A>CCA341947298POGZc.2995T>G (p.Phe999Val)
c.2788T>G (p.Phe930Val)
c.2947T>G (p.Phe983Val)
c.2968T>G (p.Phe990Val)
n.3095T>G
c.2662T>G (p.Phe888Val)
c.2920T>G (p.Phe974Val)
c.2815T>G (p.Phe939Val)
c.2761T>G (p.Phe921Val)
c.2839T>G (p.Phe947Val)
c.2590T>G (p.Phe864Val)
c.2821T>G (p.Phe941Val)
c.1747T>G (p.Phe583Val)
n.2802T>G
1g.151406088A>GCA341947300POGZc.2995T>C (p.Phe999Leu)
c.2788T>C (p.Phe930Leu)
c.2947T>C (p.Phe983Leu)
c.2968T>C (p.Phe990Leu)
n.3095T>C
c.2662T>C (p.Phe888Leu)
c.2920T>C (p.Phe974Leu)
c.2815T>C (p.Phe939Leu)
c.2761T>C (p.Phe921Leu)
c.2839T>C (p.Phe947Leu)
c.2590T>C (p.Phe864Leu)
c.2821T>C (p.Phe941Leu)
c.1747T>C (p.Phe583Leu)
n.2802T>C
1g.151406088A>TCA341947303POGZc.2995T>A (p.Phe999Ile)
c.2788T>A (p.Phe930Ile)
c.2947T>A (p.Phe983Ile)
c.2968T>A (p.Phe990Ile)
n.3095T>A
c.2662T>A (p.Phe888Ile)
c.2920T>A (p.Phe974Ile)
c.2815T>A (p.Phe939Ile)
c.2761T>A (p.Phe921Ile)
c.2839T>A (p.Phe947Ile)
c.2590T>A (p.Phe864Ile)
c.2821T>A (p.Phe941Ile)
c.1747T>A (p.Phe583Ile)
n.2802T>A
1g.151406089C>ACA420909854POGZc.2994G>T (p.Leu998=)
c.2787G>T (p.Leu929=)
c.2946G>T (p.Leu982=)
c.2967G>T (p.Leu989=)
n.3094G>T
c.2661G>T (p.Leu887=)
c.2919G>T (p.Leu973=)
c.2814G>T (p.Leu938=)
c.2760G>T (p.Leu920=)
c.2838G>T (p.Leu946=)
c.2589G>T (p.Leu863=)
c.2820G>T (p.Leu940=)
c.1746G>T (p.Leu582=)
n.2801G>T
1g.151406089C>GCA420909855POGZc.2994G>C (p.Leu998=)
c.2787G>C (p.Leu929=)
c.2946G>C (p.Leu982=)
c.2967G>C (p.Leu989=)
n.3094G>C
c.2661G>C (p.Leu887=)
c.2919G>C (p.Leu973=)
c.2814G>C (p.Leu938=)
c.2760G>C (p.Leu920=)
c.2838G>C (p.Leu946=)
c.2589G>C (p.Leu863=)
c.2820G>C (p.Leu940=)
c.1746G>C (p.Leu582=)
n.2801G>C
 gnomAD v4
1g.151406089C>TCA420909857POGZc.2994G>A (p.Leu998=)
c.2787G>A (p.Leu929=)
c.2946G>A (p.Leu982=)
c.2967G>A (p.Leu989=)
n.3094G>A
c.2661G>A (p.Leu887=)
c.2919G>A (p.Leu973=)
c.2814G>A (p.Leu938=)
c.2760G>A (p.Leu920=)
c.2838G>A (p.Leu946=)
c.2589G>A (p.Leu863=)
c.2820G>A (p.Leu940=)
c.1746G>A (p.Leu582=)
n.2801G>A
1g.151406090A>CCA341947315POGZc.2993T>G (p.Leu998Arg)
c.2786T>G (p.Leu929Arg)
c.2945T>G (p.Leu982Arg)
c.2966T>G (p.Leu989Arg)
n.3093T>G
c.2660T>G (p.Leu887Arg)
c.2918T>G (p.Leu973Arg)
c.2813T>G (p.Leu938Arg)
c.2759T>G (p.Leu920Arg)
c.2837T>G (p.Leu946Arg)
c.2588T>G (p.Leu863Arg)
c.2819T>G (p.Leu940Arg)
c.1745T>G (p.Leu582Arg)
n.2800T>G
1g.151406090A>GCA341947312POGZc.2993T>C (p.Leu998Pro)
c.2786T>C (p.Leu929Pro)
c.2945T>C (p.Leu982Pro)
c.2966T>C (p.Leu989Pro)
n.3093T>C
c.2660T>C (p.Leu887Pro)
c.2918T>C (p.Leu973Pro)
c.2813T>C (p.Leu938Pro)
c.2759T>C (p.Leu920Pro)
c.2837T>C (p.Leu946Pro)
c.2588T>C (p.Leu863Pro)
c.2819T>C (p.Leu940Pro)
c.1745T>C (p.Leu582Pro)
n.2800T>C
1g.151406090A>TCA341947308POGZc.2993T>A (p.Leu998Gln)
c.2786T>A (p.Leu929Gln)
c.2945T>A (p.Leu982Gln)
c.2966T>A (p.Leu989Gln)
n.3093T>A
c.2660T>A (p.Leu887Gln)
c.2918T>A (p.Leu973Gln)
c.2813T>A (p.Leu938Gln)
c.2759T>A (p.Leu920Gln)
c.2837T>A (p.Leu946Gln)
c.2588T>A (p.Leu863Gln)
c.2819T>A (p.Leu940Gln)
c.1745T>A (p.Leu582Gln)
n.2800T>A
1g.151406090_151406093dupCA2740097920POGZc.2990_2993dup (p.Phe999ThrfsTer13)
c.2783_2786dup (p.Phe930ThrfsTer13)
c.2942_2945dup (p.Phe983ThrfsTer13)
c.2963_2966dup (p.Phe990ThrfsTer13)
n.3090_3093dup
c.2657_2660dup (p.Phe888ThrfsTer13)
c.2915_2918dup (p.Phe974ThrfsTer13)
c.2810_2813dup (p.Phe939ThrfsTer13)
c.2756_2759dup (p.Phe921ThrfsTer13)
c.2834_2837dup (p.Phe947ThrfsTer13)
c.2585_2588dup (p.Phe864ThrfsTer13)
c.2816_2819dup (p.Phe941ThrfsTer13)
c.1742_1745dup (p.Phe583ThrfsTer13)
n.2797_2800dup
 ClinVar
1g.151406091G>ACA1091032POGZc.2992C>T (p.Leu998=)
c.2785C>T (p.Leu929=)
c.2944C>T (p.Leu982=)
c.2965C>T (p.Leu989=)
n.3092C>T
c.2659C>T (p.Leu887=)
c.2917C>T (p.Leu973=)
c.2812C>T (p.Leu938=)
c.2758C>T (p.Leu920=)
c.2836C>T (p.Leu946=)
c.2587C>T (p.Leu863=)
c.2818C>T (p.Leu940=)
c.1744C>T (p.Leu582=)
n.2799C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.151406091G>CCA341947322POGZc.2992C>G (p.Leu998Val)
c.2785C>G (p.Leu929Val)
c.2944C>G (p.Leu982Val)
c.2965C>G (p.Leu989Val)
n.3092C>G
c.2659C>G (p.Leu887Val)
c.2917C>G (p.Leu973Val)
c.2812C>G (p.Leu938Val)
c.2758C>G (p.Leu920Val)
c.2836C>G (p.Leu946Val)
c.2587C>G (p.Leu863Val)
c.2818C>G (p.Leu940Val)
c.1744C>G (p.Leu582Val)
n.2799C>G
1g.151406091G=CA1143438857POGZc.2992C= (p.Leu998=)
c.2785C= (p.Leu929=)
c.2944C= (p.Leu982=)
c.2965C= (p.Leu989=)
n.3092C=
c.2659C= (p.Leu887=)
c.2917C= (p.Leu973=)
c.2812C= (p.Leu938=)
c.2758C= (p.Leu920=)
c.2836C= (p.Leu946=)
c.2587C= (p.Leu863=)
c.2818C= (p.Leu940=)
c.1744C= (p.Leu582=)
n.2799C=
1g.151406091G>TCA341947324POGZc.2992C>A (p.Leu998Met)
c.2785C>A (p.Leu929Met)
c.2944C>A (p.Leu982Met)
c.2965C>A (p.Leu989Met)
n.3092C>A
c.2659C>A (p.Leu887Met)
c.2917C>A (p.Leu973Met)
c.2812C>A (p.Leu938Met)
c.2758C>A (p.Leu920Met)
c.2836C>A (p.Leu946Met)
c.2587C>A (p.Leu863Met)
c.2818C>A (p.Leu940Met)
c.1744C>A (p.Leu582Met)
n.2799C>A
1g.151406092T>ACA420909868POGZc.2991A>T (p.Val997=)
c.2784A>T (p.Val928=)
c.2943A>T (p.Val981=)
c.2964A>T (p.Val988=)
n.3091A>T
c.2658A>T (p.Val886=)
c.2916A>T (p.Val972=)
c.2811A>T (p.Val937=)
c.2757A>T (p.Val919=)
c.2835A>T (p.Val945=)
c.2586A>T (p.Val862=)
c.2817A>T (p.Val939=)
c.1743A>T (p.Val581=)
n.2798A>T
1g.151406092T>CCA420909870POGZc.2991A>G (p.Val997=)
c.2784A>G (p.Val928=)
c.2943A>G (p.Val981=)
c.2964A>G (p.Val988=)
n.3091A>G
c.2658A>G (p.Val886=)
c.2916A>G (p.Val972=)
c.2811A>G (p.Val937=)
c.2757A>G (p.Val919=)
c.2835A>G (p.Val945=)
c.2586A>G (p.Val862=)
c.2817A>G (p.Val939=)
c.1743A>G (p.Val581=)
n.2798A>G
1g.151406092T>GCA420909872POGZc.2991A>C (p.Val997=)
c.2784A>C (p.Val928=)
c.2943A>C (p.Val981=)
c.2964A>C (p.Val988=)
n.3091A>C
c.2658A>C (p.Val886=)
c.2916A>C (p.Val972=)
c.2811A>C (p.Val937=)
c.2757A>C (p.Val919=)
c.2835A>C (p.Val945=)
c.2586A>C (p.Val862=)
c.2817A>C (p.Val939=)
c.1743A>C (p.Val581=)
n.2798A>C
1g.151406093A>CCA341947325POGZc.2990T>G (p.Val997Gly)
c.2783T>G (p.Val928Gly)
c.2942T>G (p.Val981Gly)
c.2963T>G (p.Val988Gly)
n.3090T>G
c.2657T>G (p.Val886Gly)
c.2915T>G (p.Val972Gly)
c.2810T>G (p.Val937Gly)
c.2756T>G (p.Val919Gly)
c.2834T>G (p.Val945Gly)
c.2585T>G (p.Val862Gly)
c.2816T>G (p.Val939Gly)
c.1742T>G (p.Val581Gly)
n.2797T>G
1g.151406093A>GCA341947326POGZc.2990T>C (p.Val997Ala)
c.2783T>C (p.Val928Ala)
c.2942T>C (p.Val981Ala)
c.2963T>C (p.Val988Ala)
n.3090T>C
c.2657T>C (p.Val886Ala)
c.2915T>C (p.Val972Ala)
c.2810T>C (p.Val937Ala)
c.2756T>C (p.Val919Ala)
c.2834T>C (p.Val945Ala)
c.2585T>C (p.Val862Ala)
c.2816T>C (p.Val939Ala)
c.1742T>C (p.Val581Ala)
n.2797T>C
1g.151406093A>TCA341947327POGZc.2990T>A (p.Val997Glu)
c.2783T>A (p.Val928Glu)
c.2942T>A (p.Val981Glu)
c.2963T>A (p.Val988Glu)
n.3090T>A
c.2657T>A (p.Val886Glu)
c.2915T>A (p.Val972Glu)
c.2810T>A (p.Val937Glu)
c.2756T>A (p.Val919Glu)
c.2834T>A (p.Val945Glu)
c.2585T>A (p.Val862Glu)
c.2816T>A (p.Val939Glu)
c.1742T>A (p.Val581Glu)
n.2797T>A
1g.151406094C>ACA341947331POGZc.2989G>T (p.Val997Leu)
c.2782G>T (p.Val928Leu)
c.2941G>T (p.Val981Leu)
c.2962G>T (p.Val988Leu)
n.3089G>T
c.2656G>T (p.Val886Leu)
c.2914G>T (p.Val972Leu)
c.2809G>T (p.Val937Leu)
c.2755G>T (p.Val919Leu)
c.2833G>T (p.Val945Leu)
c.2584G>T (p.Val862Leu)
c.2815G>T (p.Val939Leu)
c.1741G>T (p.Val581Leu)
n.2796G>T
1g.151406094C>GCA341947333POGZc.2989G>C (p.Val997Leu)
c.2782G>C (p.Val928Leu)
c.2941G>C (p.Val981Leu)
c.2962G>C (p.Val988Leu)
n.3089G>C
c.2656G>C (p.Val886Leu)
c.2914G>C (p.Val972Leu)
c.2809G>C (p.Val937Leu)
c.2755G>C (p.Val919Leu)
c.2833G>C (p.Val945Leu)
c.2584G>C (p.Val862Leu)
c.2815G>C (p.Val939Leu)
c.1741G>C (p.Val581Leu)
n.2796G>C
1g.151406094C>TCA341947335POGZc.2989G>A (p.Val997Ile)
c.2782G>A (p.Val928Ile)
c.2941G>A (p.Val981Ile)
c.2962G>A (p.Val988Ile)
n.3089G>A
c.2656G>A (p.Val886Ile)
c.2914G>A (p.Val972Ile)
c.2809G>A (p.Val937Ile)
c.2755G>A (p.Val919Ile)
c.2833G>A (p.Val945Ile)
c.2584G>A (p.Val862Ile)
c.2815G>A (p.Val939Ile)
c.1741G>A (p.Val581Ile)
n.2796G>A
1g.151406095T>ACA420909879POGZc.2988A>T (p.Val996=)
c.2781A>T (p.Val927=)
c.2940A>T (p.Val980=)
c.2961A>T (p.Val987=)
n.3088A>T
c.2655A>T (p.Val885=)
c.2913A>T (p.Val971=)
c.2808A>T (p.Val936=)
c.2754A>T (p.Val918=)
c.2832A>T (p.Val944=)
c.2583A>T (p.Val861=)
c.2814A>T (p.Val938=)
c.1740A>T (p.Val580=)
n.2795A>T
1g.151406095T>CCA420909882POGZc.2988A>G (p.Val996=)
c.2781A>G (p.Val927=)
c.2940A>G (p.Val980=)
c.2961A>G (p.Val987=)
n.3088A>G
c.2655A>G (p.Val885=)
c.2913A>G (p.Val971=)
c.2808A>G (p.Val936=)
c.2754A>G (p.Val918=)
c.2832A>G (p.Val944=)
c.2583A>G (p.Val861=)
c.2814A>G (p.Val938=)
c.1740A>G (p.Val580=)
n.2795A>G
1g.151406095T>GCA420909884POGZc.2988A>C (p.Val996=)
c.2781A>C (p.Val927=)
c.2940A>C (p.Val980=)
c.2961A>C (p.Val987=)
n.3088A>C
c.2655A>C (p.Val885=)
c.2913A>C (p.Val971=)
c.2808A>C (p.Val936=)
c.2754A>C (p.Val918=)
c.2832A>C (p.Val944=)
c.2583A>C (p.Val861=)
c.2814A>C (p.Val938=)
c.1740A>C (p.Val580=)
n.2795A>C
1g.151406096A>CCA341947340POGZc.2987T>G (p.Val996Gly)
c.2780T>G (p.Val927Gly)
c.2939T>G (p.Val980Gly)
c.2960T>G (p.Val987Gly)
n.3087T>G
c.2654T>G (p.Val885Gly)
c.2912T>G (p.Val971Gly)
c.2807T>G (p.Val936Gly)
c.2753T>G (p.Val918Gly)
c.2831T>G (p.Val944Gly)
c.2582T>G (p.Val861Gly)
c.2813T>G (p.Val938Gly)
c.1739T>G (p.Val580Gly)
n.2794T>G
 gnomAD v4
1g.151406096A>GCA341947343POGZc.2987T>C (p.Val996Ala)
c.2780T>C (p.Val927Ala)
c.2939T>C (p.Val980Ala)
c.2960T>C (p.Val987Ala)
n.3087T>C
c.2654T>C (p.Val885Ala)
c.2912T>C (p.Val971Ala)
c.2807T>C (p.Val936Ala)
c.2753T>C (p.Val918Ala)
c.2831T>C (p.Val944Ala)
c.2582T>C (p.Val861Ala)
c.2813T>C (p.Val938Ala)
c.1739T>C (p.Val580Ala)
n.2794T>C
1g.151406096A>TCA341947345POGZc.2987T>A (p.Val996Glu)
c.2780T>A (p.Val927Glu)
c.2939T>A (p.Val980Glu)
c.2960T>A (p.Val987Glu)
n.3087T>A
c.2654T>A (p.Val885Glu)
c.2912T>A (p.Val971Glu)
c.2807T>A (p.Val936Glu)
c.2753T>A (p.Val918Glu)
c.2831T>A (p.Val944Glu)
c.2582T>A (p.Val861Glu)
c.2813T>A (p.Val938Glu)
c.1739T>A (p.Val580Glu)
n.2794T>A
1g.151406097C>ACA341947355POGZc.2986G>T (p.Val996Leu)
c.2779G>T (p.Val927Leu)
c.2938G>T (p.Val980Leu)
c.2959G>T (p.Val987Leu)
n.3086G>T
c.2653G>T (p.Val885Leu)
c.2911G>T (p.Val971Leu)
c.2806G>T (p.Val936Leu)
c.2752G>T (p.Val918Leu)
c.2830G>T (p.Val944Leu)
c.2581G>T (p.Val861Leu)
c.2812G>T (p.Val938Leu)
c.1738G>T (p.Val580Leu)
n.2793G>T
1g.151406097C>GCA341947354POGZc.2986G>C (p.Val996Leu)
c.2779G>C (p.Val927Leu)
c.2938G>C (p.Val980Leu)
c.2959G>C (p.Val987Leu)
n.3086G>C
c.2653G>C (p.Val885Leu)
c.2911G>C (p.Val971Leu)
c.2806G>C (p.Val936Leu)
c.2752G>C (p.Val918Leu)
c.2830G>C (p.Val944Leu)
c.2581G>C (p.Val861Leu)
c.2812G>C (p.Val938Leu)
c.1738G>C (p.Val580Leu)
n.2793G>C
1g.151406097C>TCA341947352POGZc.2986G>A (p.Val996Ile)
c.2779G>A (p.Val927Ile)
c.2938G>A (p.Val980Ile)
c.2959G>A (p.Val987Ile)
n.3086G>A
c.2653G>A (p.Val885Ile)
c.2911G>A (p.Val971Ile)
c.2806G>A (p.Val936Ile)
c.2752G>A (p.Val918Ile)
c.2830G>A (p.Val944Ile)
c.2581G>A (p.Val861Ile)
c.2812G>A (p.Val938Ile)
c.1738G>A (p.Val580Ile)
n.2793G>A
1g.151406098T>ACA420909897POGZc.2985A>T (p.Arg995=)
c.2778A>T (p.Arg926=)
c.2937A>T (p.Arg979=)
c.2958A>T (p.Arg986=)
n.3085A>T
c.2652A>T (p.Arg884=)
c.2910A>T (p.Arg970=)
c.2805A>T (p.Arg935=)
c.2751A>T (p.Arg917=)
c.2829A>T (p.Arg943=)
c.2580A>T (p.Arg860=)
c.2811A>T (p.Arg937=)
c.1737A>T (p.Arg579=)
n.2792A>T
1g.151406098T>CCA420909890POGZc.2985A>G (p.Arg995=)
c.2778A>G (p.Arg926=)
c.2937A>G (p.Arg979=)
c.2958A>G (p.Arg986=)
n.3085A>G
c.2652A>G (p.Arg884=)
c.2910A>G (p.Arg970=)
c.2805A>G (p.Arg935=)
c.2751A>G (p.Arg917=)
c.2829A>G (p.Arg943=)
c.2580A>G (p.Arg860=)
c.2811A>G (p.Arg937=)
c.1737A>G (p.Arg579=)
n.2792A>G
1g.151406098T>GCA420909892POGZc.2985A>C (p.Arg995=)
c.2778A>C (p.Arg926=)
c.2937A>C (p.Arg979=)
c.2958A>C (p.Arg986=)
n.3085A>C
c.2652A>C (p.Arg884=)
c.2910A>C (p.Arg970=)
c.2805A>C (p.Arg935=)
c.2751A>C (p.Arg917=)
c.2829A>C (p.Arg943=)
c.2580A>C (p.Arg860=)
c.2811A>C (p.Arg937=)
c.1737A>C (p.Arg579=)
n.2792A>C
1g.151406099C>ACA341947361POGZc.2984G>T (p.Arg995Leu)
c.2777G>T (p.Arg926Leu)
c.2936G>T (p.Arg979Leu)
c.2957G>T (p.Arg986Leu)
n.3084G>T
c.2651G>T (p.Arg884Leu)
c.2909G>T (p.Arg970Leu)
c.2804G>T (p.Arg935Leu)
c.2750G>T (p.Arg917Leu)
c.2828G>T (p.Arg943Leu)
c.2579G>T (p.Arg860Leu)
c.2810G>T (p.Arg937Leu)
c.1736G>T (p.Arg579Leu)
n.2791G>T
1g.151406099C>GCA341947362POGZc.2984G>C (p.Arg995Pro)
c.2777G>C (p.Arg926Pro)
c.2936G>C (p.Arg979Pro)
c.2957G>C (p.Arg986Pro)
n.3084G>C
c.2651G>C (p.Arg884Pro)
c.2909G>C (p.Arg970Pro)
c.2804G>C (p.Arg935Pro)
c.2750G>C (p.Arg917Pro)
c.2828G>C (p.Arg943Pro)
c.2579G>C (p.Arg860Pro)
c.2810G>C (p.Arg937Pro)
c.1736G>C (p.Arg579Pro)
n.2791G>C
1g.151406099C>TCA341947366POGZc.2984G>A (p.Arg995Gln)
c.2777G>A (p.Arg926Gln)
c.2936G>A (p.Arg979Gln)
c.2957G>A (p.Arg986Gln)
n.3084G>A
c.2651G>A (p.Arg884Gln)
c.2909G>A (p.Arg970Gln)
c.2804G>A (p.Arg935Gln)
c.2750G>A (p.Arg917Gln)
c.2828G>A (p.Arg943Gln)
c.2579G>A (p.Arg860Gln)
c.2810G>A (p.Arg937Gln)
c.1736G>A (p.Arg579Gln)
n.2791G>A
 ClinVar dbSNP
1g.151406100G>ACA347938POGZc.2983C>T (p.Arg995Ter)
c.2776C>T (p.Arg926Ter)
c.2935C>T (p.Arg979Ter)
c.2956C>T (p.Arg986Ter)
n.3083C>T
c.2650C>T (p.Arg884Ter)
c.2908C>T (p.Arg970Ter)
c.2803C>T (p.Arg935Ter)
c.2749C>T (p.Arg917Ter)
c.2827C>T (p.Arg943Ter)
c.2578C>T (p.Arg860Ter)
c.2809C>T (p.Arg937Ter)
c.1735C>T (p.Arg579Ter)
n.2790C>T
 ClinVar dbSNP COSMIC COSMIC
1g.151406100G>CCA341947372POGZc.2983C>G (p.Arg995Gly)
c.2776C>G (p.Arg926Gly)
c.2935C>G (p.Arg979Gly)
c.2956C>G (p.Arg986Gly)
n.3083C>G
c.2650C>G (p.Arg884Gly)
c.2908C>G (p.Arg970Gly)
c.2803C>G (p.Arg935Gly)
c.2749C>G (p.Arg917Gly)
c.2827C>G (p.Arg943Gly)
c.2578C>G (p.Arg860Gly)
c.2809C>G (p.Arg937Gly)
c.1735C>G (p.Arg579Gly)
n.2790C>G
1g.151406100G=CA2479570510POGZc.2983C= (p.Arg995=)
c.2776C= (p.Arg926=)
c.2935C= (p.Arg979=)
c.2956C= (p.Arg986=)
n.3083C=
c.2650C= (p.Arg884=)
c.2908C= (p.Arg970=)
c.2803C= (p.Arg935=)
c.2749C= (p.Arg917=)
c.2827C= (p.Arg943=)
c.2578C= (p.Arg860=)
c.2809C= (p.Arg937=)
c.1735C= (p.Arg579=)
n.2790C=
1g.151406100G>TCA420909902POGZc.2983C>A (p.Arg995=)
c.2776C>A (p.Arg926=)
c.2935C>A (p.Arg979=)
c.2956C>A (p.Arg986=)
n.3083C>A
c.2650C>A (p.Arg884=)
c.2908C>A (p.Arg970=)
c.2803C>A (p.Arg935=)
c.2749C>A (p.Arg917=)
c.2827C>A (p.Arg943=)
c.2578C>A (p.Arg860=)
c.2809C>A (p.Arg937=)
c.1735C>A (p.Arg579=)
n.2790C>A
1g.151406101A>CCA420909904POGZc.2982T>G (p.Leu994=)
c.2775T>G (p.Leu925=)
c.2934T>G (p.Leu978=)
c.2955T>G (p.Leu985=)
n.3082T>G
c.2649T>G (p.Leu883=)
c.2907T>G (p.Leu969=)
c.2802T>G (p.Leu934=)
c.2748T>G (p.Leu916=)
c.2826T>G (p.Leu942=)
c.2577T>G (p.Leu859=)
c.2808T>G (p.Leu936=)
c.1734T>G (p.Leu578=)
n.2789T>G
1g.151406101A>GCA420909906POGZc.2982T>C (p.Leu994=)
c.2775T>C (p.Leu925=)
c.2934T>C (p.Leu978=)
c.2955T>C (p.Leu985=)
n.3082T>C
c.2649T>C (p.Leu883=)
c.2907T>C (p.Leu969=)
c.2802T>C (p.Leu934=)
c.2748T>C (p.Leu916=)
c.2826T>C (p.Leu942=)
c.2577T>C (p.Leu859=)
c.2808T>C (p.Leu936=)
c.1734T>C (p.Leu578=)
n.2789T>C
1g.151406101A>TCA420909908POGZc.2982T>A (p.Leu994=)
c.2775T>A (p.Leu925=)
c.2934T>A (p.Leu978=)
c.2955T>A (p.Leu985=)
n.3082T>A
c.2649T>A (p.Leu883=)
c.2907T>A (p.Leu969=)
c.2802T>A (p.Leu934=)
c.2748T>A (p.Leu916=)
c.2826T>A (p.Leu942=)
c.2577T>A (p.Leu859=)
c.2808T>A (p.Leu936=)
c.1734T>A (p.Leu578=)
n.2789T>A
1g.151406101_151406102dupCA2586964169POGZc.2981_2982dup (p.Arg995PhefsTer3)
c.2774_2775dup (p.Arg926PhefsTer3)
c.2933_2934dup (p.Arg979PhefsTer3)
c.2954_2955dup (p.Arg986PhefsTer3)
n.3081_3082dup
c.2648_2649dup (p.Arg884PhefsTer3)
c.2906_2907dup (p.Arg970PhefsTer3)
c.2801_2802dup (p.Arg935PhefsTer3)
c.2747_2748dup (p.Arg917PhefsTer3)
c.2825_2826dup (p.Arg943PhefsTer3)
c.2576_2577dup (p.Arg860PhefsTer3)
c.2807_2808dup (p.Arg937PhefsTer3)
c.1733_1734dup (p.Arg579PhefsTer3)
n.2788_2789dup
1g.151406102A>CCA341947379POGZc.2981T>G (p.Leu994Arg)
c.2774T>G (p.Leu925Arg)
c.2933T>G (p.Leu978Arg)
c.2954T>G (p.Leu985Arg)
n.3081T>G
c.2648T>G (p.Leu883Arg)
c.2906T>G (p.Leu969Arg)
c.2801T>G (p.Leu934Arg)
c.2747T>G (p.Leu916Arg)
c.2825T>G (p.Leu942Arg)
c.2576T>G (p.Leu859Arg)
c.2807T>G (p.Leu936Arg)
c.1733T>G (p.Leu578Arg)
n.2788T>G
1g.151406102A>GCA341947381POGZc.2981T>C (p.Leu994Pro)
c.2774T>C (p.Leu925Pro)
c.2933T>C (p.Leu978Pro)
c.2954T>C (p.Leu985Pro)
n.3081T>C
c.2648T>C (p.Leu883Pro)
c.2906T>C (p.Leu969Pro)
c.2801T>C (p.Leu934Pro)
c.2747T>C (p.Leu916Pro)
c.2825T>C (p.Leu942Pro)
c.2576T>C (p.Leu859Pro)
c.2807T>C (p.Leu936Pro)
c.1733T>C (p.Leu578Pro)
n.2788T>C
1g.151406102A>TCA341947385POGZc.2981T>A (p.Leu994His)
c.2774T>A (p.Leu925His)
c.2933T>A (p.Leu978His)
c.2954T>A (p.Leu985His)
n.3081T>A
c.2648T>A (p.Leu883His)
c.2906T>A (p.Leu969His)
c.2801T>A (p.Leu934His)
c.2747T>A (p.Leu916His)
c.2825T>A (p.Leu942His)
c.2576T>A (p.Leu859His)
c.2807T>A (p.Leu936His)
c.1733T>A (p.Leu578His)
n.2788T>A
1g.151406103G>ACA341947390POGZc.2980C>T (p.Leu994Phe)
c.2773C>T (p.Leu925Phe)
c.2932C>T (p.Leu978Phe)
c.2953C>T (p.Leu985Phe)
n.3080C>T
c.2647C>T (p.Leu883Phe)
c.2905C>T (p.Leu969Phe)
c.2800C>T (p.Leu934Phe)
c.2746C>T (p.Leu916Phe)
c.2824C>T (p.Leu942Phe)
c.2575C>T (p.Leu859Phe)
c.2806C>T (p.Leu936Phe)
c.1732C>T (p.Leu578Phe)
n.2787C>T
1g.151406103G>CCA341947394POGZc.2980C>G (p.Leu994Val)
c.2773C>G (p.Leu925Val)
c.2932C>G (p.Leu978Val)
c.2953C>G (p.Leu985Val)
n.3080C>G
c.2647C>G (p.Leu883Val)
c.2905C>G (p.Leu969Val)
c.2800C>G (p.Leu934Val)
c.2746C>G (p.Leu916Val)
c.2824C>G (p.Leu942Val)
c.2575C>G (p.Leu859Val)
c.2806C>G (p.Leu936Val)
c.1732C>G (p.Leu578Val)
n.2787C>G
1g.151406103G>TCA341947401POGZc.2980C>A (p.Leu994Ile)
c.2773C>A (p.Leu925Ile)
c.2932C>A (p.Leu978Ile)
c.2953C>A (p.Leu985Ile)
n.3080C>A
c.2647C>A (p.Leu883Ile)
c.2905C>A (p.Leu969Ile)
c.2800C>A (p.Leu934Ile)
c.2746C>A (p.Leu916Ile)
c.2824C>A (p.Leu942Ile)
c.2575C>A (p.Leu859Ile)
c.2806C>A (p.Leu936Ile)
c.1732C>A (p.Leu578Ile)
n.2787C>A
1g.151406104C>ACA341947404POGZc.2979G>T (p.Lys993Asn)
c.2772G>T (p.Lys924Asn)
c.2931G>T (p.Lys977Asn)
c.2952G>T (p.Lys984Asn)
n.3079G>T
c.2646G>T (p.Lys882Asn)
c.2904G>T (p.Lys968Asn)
c.2799G>T (p.Lys933Asn)
c.2745G>T (p.Lys915Asn)
c.2823G>T (p.Lys941Asn)
c.2574G>T (p.Lys858Asn)
c.2805G>T (p.Lys935Asn)
c.1731G>T (p.Lys577Asn)
n.2786G>T
1g.151406104C>GCA341947408POGZc.2979G>C (p.Lys993Asn)
c.2772G>C (p.Lys924Asn)
c.2931G>C (p.Lys977Asn)
c.2952G>C (p.Lys984Asn)
n.3079G>C
c.2646G>C (p.Lys882Asn)
c.2904G>C (p.Lys968Asn)
c.2799G>C (p.Lys933Asn)
c.2745G>C (p.Lys915Asn)
c.2823G>C (p.Lys941Asn)
c.2574G>C (p.Lys858Asn)
c.2805G>C (p.Lys935Asn)
c.1731G>C (p.Lys577Asn)
n.2786G>C
1g.151406104C>TCA420909915POGZc.2979G>A (p.Lys993=)
c.2772G>A (p.Lys924=)
c.2931G>A (p.Lys977=)
c.2952G>A (p.Lys984=)
n.3079G>A
c.2646G>A (p.Lys882=)
c.2904G>A (p.Lys968=)
c.2799G>A (p.Lys933=)
c.2745G>A (p.Lys915=)
c.2823G>A (p.Lys941=)
c.2574G>A (p.Lys858=)
c.2805G>A (p.Lys935=)
c.1731G>A (p.Lys577=)
n.2786G>A
 ClinVar
1g.151406105T>ACA341947420POGZc.2978A>T (p.Lys993Met)
c.2771A>T (p.Lys924Met)
c.2930A>T (p.Lys977Met)
c.2951A>T (p.Lys984Met)
n.3078A>T
c.2645A>T (p.Lys882Met)
c.2903A>T (p.Lys968Met)
c.2798A>T (p.Lys933Met)
c.2744A>T (p.Lys915Met)
c.2822A>T (p.Lys941Met)
c.2573A>T (p.Lys858Met)
c.2804A>T (p.Lys935Met)
c.1730A>T (p.Lys577Met)
n.2785A>T
1g.151406105T>CCA341947418POGZc.2978A>G (p.Lys993Arg)
c.2771A>G (p.Lys924Arg)
c.2930A>G (p.Lys977Arg)
c.2951A>G (p.Lys984Arg)
n.3078A>G
c.2645A>G (p.Lys882Arg)
c.2903A>G (p.Lys968Arg)
c.2798A>G (p.Lys933Arg)
c.2744A>G (p.Lys915Arg)
c.2822A>G (p.Lys941Arg)
c.2573A>G (p.Lys858Arg)
c.2804A>G (p.Lys935Arg)
c.1730A>G (p.Lys577Arg)
n.2785A>G
1g.151406105T>GCA341947416POGZc.2978A>C (p.Lys993Thr)
c.2771A>C (p.Lys924Thr)
c.2930A>C (p.Lys977Thr)
c.2951A>C (p.Lys984Thr)
n.3078A>C
c.2645A>C (p.Lys882Thr)
c.2903A>C (p.Lys968Thr)
c.2798A>C (p.Lys933Thr)
c.2744A>C (p.Lys915Thr)
c.2822A>C (p.Lys941Thr)
c.2573A>C (p.Lys858Thr)
c.2804A>C (p.Lys935Thr)
c.1730A>C (p.Lys577Thr)
n.2785A>C
1g.151406106T>ACA341947425POGZc.2977A>T (p.Lys993Ter)
c.2770A>T (p.Lys924Ter)
c.2929A>T (p.Lys977Ter)
c.2950A>T (p.Lys984Ter)
n.3077A>T
c.2644A>T (p.Lys882Ter)
c.2902A>T (p.Lys968Ter)
c.2797A>T (p.Lys933Ter)
c.2743A>T (p.Lys915Ter)
c.2821A>T (p.Lys941Ter)
c.2572A>T (p.Lys858Ter)
c.2803A>T (p.Lys935Ter)
c.1729A>T (p.Lys577Ter)
n.2784A>T
1g.151406106T>CCA341947432POGZc.2977A>G (p.Lys993Glu)
c.2770A>G (p.Lys924Glu)
c.2929A>G (p.Lys977Glu)
c.2950A>G (p.Lys984Glu)
n.3077A>G
c.2644A>G (p.Lys882Glu)
c.2902A>G (p.Lys968Glu)
c.2797A>G (p.Lys933Glu)
c.2743A>G (p.Lys915Glu)
c.2821A>G (p.Lys941Glu)
c.2572A>G (p.Lys858Glu)
c.2803A>G (p.Lys935Glu)
c.1729A>G (p.Lys577Glu)
n.2784A>G
1g.151406106T>GCA341947429POGZc.2977A>C (p.Lys993Gln)
c.2770A>C (p.Lys924Gln)
c.2929A>C (p.Lys977Gln)
c.2950A>C (p.Lys984Gln)
n.3077A>C
c.2644A>C (p.Lys882Gln)
c.2902A>C (p.Lys968Gln)
c.2797A>C (p.Lys933Gln)
c.2743A>C (p.Lys915Gln)
c.2821A>C (p.Lys941Gln)
c.2572A>C (p.Lys858Gln)
c.2803A>C (p.Lys935Gln)
c.1729A>C (p.Lys577Gln)
n.2784A>C
1g.151406107C>ACA341947437POGZc.2976G>T (p.Lys992Asn)
c.2769G>T (p.Lys923Asn)
c.2928G>T (p.Lys976Asn)
c.2949G>T (p.Lys983Asn)
n.3076G>T
c.2643G>T (p.Lys881Asn)
c.2901G>T (p.Lys967Asn)
c.2796G>T (p.Lys932Asn)
c.2742G>T (p.Lys914Asn)
c.2820G>T (p.Lys940Asn)
c.2571G>T (p.Lys857Asn)
c.2802G>T (p.Lys934Asn)
c.1728G>T (p.Lys576Asn)
n.2783G>T
1g.151406107C=CA2479570511POGZc.2976G= (p.Lys992=)
c.2769G= (p.Lys923=)
c.2928G= (p.Lys976=)
c.2949G= (p.Lys983=)
n.3076G=
c.2643G= (p.Lys881=)
c.2901G= (p.Lys967=)
c.2796G= (p.Lys932=)
c.2742G= (p.Lys914=)
c.2820G= (p.Lys940=)
c.2571G= (p.Lys857=)
c.2802G= (p.Lys934=)
c.1728G= (p.Lys576=)
n.2783G=
1g.151406107C>GCA341947441POGZc.2976G>C (p.Lys992Asn)
c.2769G>C (p.Lys923Asn)
c.2928G>C (p.Lys976Asn)
c.2949G>C (p.Lys983Asn)
n.3076G>C
c.2643G>C (p.Lys881Asn)
c.2901G>C (p.Lys967Asn)
c.2796G>C (p.Lys932Asn)
c.2742G>C (p.Lys914Asn)
c.2820G>C (p.Lys940Asn)
c.2571G>C (p.Lys857Asn)
c.2802G>C (p.Lys934Asn)
c.1728G>C (p.Lys576Asn)
n.2783G>C
1g.151406107C>TCA420909921POGZc.2976G>A (p.Lys992=)
c.2769G>A (p.Lys923=)
c.2928G>A (p.Lys976=)
c.2949G>A (p.Lys983=)
n.3076G>A
c.2643G>A (p.Lys881=)
c.2901G>A (p.Lys967=)
c.2796G>A (p.Lys932=)
c.2742G>A (p.Lys914=)
c.2820G>A (p.Lys940=)
c.2571G>A (p.Lys857=)
c.2802G>A (p.Lys934=)
c.1728G>A (p.Lys576=)
n.2783G>A
 dbSNP gnomAD v2
1g.151406108T>ACA341947446POGZc.2975A>T (p.Lys992Met)
c.2768A>T (p.Lys923Met)
c.2927A>T (p.Lys976Met)
c.2948A>T (p.Lys983Met)
n.3075A>T
c.2642A>T (p.Lys881Met)
c.2900A>T (p.Lys967Met)
c.2795A>T (p.Lys932Met)
c.2741A>T (p.Lys914Met)
c.2819A>T (p.Lys940Met)
c.2570A>T (p.Lys857Met)
c.2801A>T (p.Lys934Met)
c.1727A>T (p.Lys576Met)
n.2782A>T
1g.151406108T>CCA341947453POGZc.2975A>G (p.Lys992Arg)
c.2768A>G (p.Lys923Arg)
c.2927A>G (p.Lys976Arg)
c.2948A>G (p.Lys983Arg)
n.3075A>G
c.2642A>G (p.Lys881Arg)
c.2900A>G (p.Lys967Arg)
c.2795A>G (p.Lys932Arg)
c.2741A>G (p.Lys914Arg)
c.2819A>G (p.Lys940Arg)
c.2570A>G (p.Lys857Arg)
c.2801A>G (p.Lys934Arg)
c.1727A>G (p.Lys576Arg)
n.2782A>G
 gnomAD v4
1g.151406108T>GCA341947450POGZc.2975A>C (p.Lys992Thr)
c.2768A>C (p.Lys923Thr)
c.2927A>C (p.Lys976Thr)
c.2948A>C (p.Lys983Thr)
n.3075A>C
c.2642A>C (p.Lys881Thr)
c.2900A>C (p.Lys967Thr)
c.2795A>C (p.Lys932Thr)
c.2741A>C (p.Lys914Thr)
c.2819A>C (p.Lys940Thr)
c.2570A>C (p.Lys857Thr)
c.2801A>C (p.Lys934Thr)
c.1727A>C (p.Lys576Thr)
n.2782A>C
1g.151406109T>ACA341947457POGZc.2974A>T (p.Lys992Ter)
c.2767A>T (p.Lys923Ter)
c.2926A>T (p.Lys976Ter)
c.2947A>T (p.Lys983Ter)
n.3074A>T
c.2641A>T (p.Lys881Ter)
c.2899A>T (p.Lys967Ter)
c.2794A>T (p.Lys932Ter)
c.2740A>T (p.Lys914Ter)
c.2818A>T (p.Lys940Ter)
c.2569A>T (p.Lys857Ter)
c.2800A>T (p.Lys934Ter)
c.1726A>T (p.Lys576Ter)
n.2781A>T
1g.151406109T>CCA341947460POGZc.2974A>G (p.Lys992Glu)
c.2767A>G (p.Lys923Glu)
c.2926A>G (p.Lys976Glu)
c.2947A>G (p.Lys983Glu)
n.3074A>G
c.2641A>G (p.Lys881Glu)
c.2899A>G (p.Lys967Glu)
c.2794A>G (p.Lys932Glu)
c.2740A>G (p.Lys914Glu)
c.2818A>G (p.Lys940Glu)
c.2569A>G (p.Lys857Glu)
c.2800A>G (p.Lys934Glu)
c.1726A>G (p.Lys576Glu)
n.2781A>G
1g.151406109T>GCA341947462POGZc.2974A>C (p.Lys992Gln)
c.2767A>C (p.Lys923Gln)
c.2926A>C (p.Lys976Gln)
c.2947A>C (p.Lys983Gln)
n.3074A>C
c.2641A>C (p.Lys881Gln)
c.2899A>C (p.Lys967Gln)
c.2794A>C (p.Lys932Gln)
c.2740A>C (p.Lys914Gln)
c.2818A>C (p.Lys940Gln)
c.2569A>C (p.Lys857Gln)
c.2800A>C (p.Lys934Gln)
c.1726A>C (p.Lys576Gln)
n.2781A>C
1g.151406109_151406111delinsTCACA2479570512POGZc.2972_2974delinsTGA (p.Val991=)
c.2765_2767delinsTGA (p.Val922=)
c.2924_2926delinsTGA (p.Val975=)
c.2945_2947delinsTGA (p.Val982=)
n.3072_3074delinsTGA
c.2639_2641delinsTGA (p.Val880=)
c.2897_2899delinsTGA (p.Val966=)
c.2792_2794delinsTGA (p.Val931=)
c.2738_2740delinsTGA (p.Val913=)
c.2816_2818delinsTGA (p.Val939=)
c.2567_2569delinsTGA (p.Val856=)
c.2798_2800delinsTGA (p.Val933=)
c.1724_1726delinsTGA (p.Val575=)
n.2779_2781delinsTGA
1g.151406110C>ACA420909926POGZc.2973G>T (p.Val991=)
c.2766G>T (p.Val922=)
c.2925G>T (p.Val975=)
c.2946G>T (p.Val982=)
n.3073G>T
c.2640G>T (p.Val880=)
c.2898G>T (p.Val966=)
c.2793G>T (p.Val931=)
c.2739G>T (p.Val913=)
c.2817G>T (p.Val939=)
c.2568G>T (p.Val856=)
c.2799G>T (p.Val933=)
c.1725G>T (p.Val575=)
n.2780G>T
1g.151406110C=CA2479570513POGZc.2973G= (p.Val991=)
c.2766G= (p.Val922=)
c.2925G= (p.Val975=)
c.2946G= (p.Val982=)
n.3073G=
c.2640G= (p.Val880=)
c.2898G= (p.Val966=)
c.2793G= (p.Val931=)
c.2739G= (p.Val913=)
c.2817G= (p.Val939=)
c.2568G= (p.Val856=)
c.2799G= (p.Val933=)
c.1725G= (p.Val575=)
n.2780G=
1g.151406110C>GCA1091033POGZc.2973G>C (p.Val991=)
c.2766G>C (p.Val922=)
c.2925G>C (p.Val975=)
c.2946G>C (p.Val982=)
n.3073G>C
c.2640G>C (p.Val880=)
c.2898G>C (p.Val966=)
c.2793G>C (p.Val931=)
c.2739G>C (p.Val913=)
c.2817G>C (p.Val939=)
c.2568G>C (p.Val856=)
c.2799G>C (p.Val933=)
c.1725G>C (p.Val575=)
n.2780G>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.151406110C>TCA420909927POGZc.2973G>A (p.Val991=)
c.2766G>A (p.Val922=)
c.2925G>A (p.Val975=)
c.2946G>A (p.Val982=)
n.3073G>A
c.2640G>A (p.Val880=)
c.2898G>A (p.Val966=)
c.2793G>A (p.Val931=)
c.2739G>A (p.Val913=)
c.2817G>A (p.Val939=)
c.2568G>A (p.Val856=)
c.2799G>A (p.Val933=)
c.1725G>A (p.Val575=)
n.2780G>A
 COSMIC COSMIC
1g.151406112_151406113delCA16616969POGZc.2972_2973del (p.Val991GlufsTer19)
c.2765_2766del (p.Val922GlufsTer19)
c.2924_2925del (p.Val975GlufsTer19)
c.2945_2946del (p.Val982GlufsTer19)
n.3072_3073del
c.2639_2640del (p.Val880GlufsTer19)
c.2897_2898del (p.Val966GlufsTer19)
c.2792_2793del (p.Val931GlufsTer19)
c.2738_2739del (p.Val913GlufsTer19)
c.2816_2817del (p.Val939GlufsTer19)
c.2567_2568del (p.Val856GlufsTer19)
c.2798_2799del (p.Val933GlufsTer19)
c.1724_1725del (p.Val575GlufsTer19)
n.2779_2780del
 ClinVar dbSNP
1g.151406111A>CCA341947470POGZc.2972T>G (p.Val991Gly)
c.2765T>G (p.Val922Gly)
c.2924T>G (p.Val975Gly)
c.2945T>G (p.Val982Gly)
n.3072T>G
c.2639T>G (p.Val880Gly)
c.2897T>G (p.Val966Gly)
c.2792T>G (p.Val931Gly)
c.2738T>G (p.Val913Gly)
c.2816T>G (p.Val939Gly)
c.2567T>G (p.Val856Gly)
c.2798T>G (p.Val933Gly)
c.1724T>G (p.Val575Gly)
n.2779T>G
 COSMIC COSMIC
1g.151406111A>GCA341947473POGZc.2972T>C (p.Val991Ala)
c.2765T>C (p.Val922Ala)
c.2924T>C (p.Val975Ala)
c.2945T>C (p.Val982Ala)
n.3072T>C
c.2639T>C (p.Val880Ala)
c.2897T>C (p.Val966Ala)
c.2792T>C (p.Val931Ala)
c.2738T>C (p.Val913Ala)
c.2816T>C (p.Val939Ala)
c.2567T>C (p.Val856Ala)
c.2798T>C (p.Val933Ala)
c.1724T>C (p.Val575Ala)
n.2779T>C
1g.151406111A>TCA341947476POGZc.2972T>A (p.Val991Glu)
c.2765T>A (p.Val922Glu)
c.2924T>A (p.Val975Glu)
c.2945T>A (p.Val982Glu)
n.3072T>A
c.2639T>A (p.Val880Glu)
c.2897T>A (p.Val966Glu)
c.2792T>A (p.Val931Glu)
c.2738T>A (p.Val913Glu)
c.2816T>A (p.Val939Glu)
c.2567T>A (p.Val856Glu)
c.2798T>A (p.Val933Glu)
c.1724T>A (p.Val575Glu)
n.2779T>A
1g.151406112C>ACA341947479POGZc.2971G>T (p.Val991Leu)
c.2764G>T (p.Val922Leu)
c.2923G>T (p.Val975Leu)
c.2944G>T (p.Val982Leu)
n.3071G>T
c.2638G>T (p.Val880Leu)
c.2896G>T (p.Val966Leu)
c.2791G>T (p.Val931Leu)
c.2737G>T (p.Val913Leu)
c.2815G>T (p.Val939Leu)
c.2566G>T (p.Val856Leu)
c.2797G>T (p.Val933Leu)
c.1723G>T (p.Val575Leu)
n.2778G>T
1g.151406112C>GCA341947482POGZc.2971G>C (p.Val991Leu)
c.2764G>C (p.Val922Leu)
c.2923G>C (p.Val975Leu)
c.2944G>C (p.Val982Leu)
n.3071G>C
c.2638G>C (p.Val880Leu)
c.2896G>C (p.Val966Leu)
c.2791G>C (p.Val931Leu)
c.2737G>C (p.Val913Leu)
c.2815G>C (p.Val939Leu)
c.2566G>C (p.Val856Leu)
c.2797G>C (p.Val933Leu)
c.1723G>C (p.Val575Leu)
n.2778G>C
1g.151406112C>TCA341947484POGZc.2971G>A (p.Val991Met)
c.2764G>A (p.Val922Met)
c.2923G>A (p.Val975Met)
c.2944G>A (p.Val982Met)
n.3071G>A
c.2638G>A (p.Val880Met)
c.2896G>A (p.Val966Met)
c.2791G>A (p.Val931Met)
c.2737G>A (p.Val913Met)
c.2815G>A (p.Val939Met)
c.2566G>A (p.Val856Met)
c.2797G>A (p.Val933Met)
c.1723G>A (p.Val575Met)
n.2778G>A
1g.151406113A>CCA420909932POGZc.2970T>G (p.Ser990=)
c.2763T>G (p.Ser921=)
c.2922T>G (p.Ser974=)
c.2943T>G (p.Ser981=)
n.3070T>G
c.2637T>G (p.Ser879=)
c.2895T>G (p.Ser965=)
c.2790T>G (p.Ser930=)
c.2736T>G (p.Ser912=)
c.2814T>G (p.Ser938=)
c.2565T>G (p.Ser855=)
c.2796T>G (p.Ser932=)
c.1722T>G (p.Ser574=)
n.2777T>G
1g.151406113A>GCA420909934POGZc.2970T>C (p.Ser990=)
c.2763T>C (p.Ser921=)
c.2922T>C (p.Ser974=)
c.2943T>C (p.Ser981=)
n.3070T>C
c.2637T>C (p.Ser879=)
c.2895T>C (p.Ser965=)
c.2790T>C (p.Ser930=)
c.2736T>C (p.Ser912=)
c.2814T>C (p.Ser938=)
c.2565T>C (p.Ser855=)
c.2796T>C (p.Ser932=)
c.1722T>C (p.Ser574=)
n.2777T>C
1g.151406113A>TCA420909936POGZc.2970T>A (p.Ser990=)
c.2763T>A (p.Ser921=)
c.2922T>A (p.Ser974=)
c.2943T>A (p.Ser981=)
n.3070T>A
c.2637T>A (p.Ser879=)
c.2895T>A (p.Ser965=)
c.2790T>A (p.Ser930=)
c.2736T>A (p.Ser912=)
c.2814T>A (p.Ser938=)
c.2565T>A (p.Ser855=)
c.2796T>A (p.Ser932=)
c.1722T>A (p.Ser574=)
n.2777T>A
1g.151406114G>ACA341947488POGZc.2969C>T (p.Ser990Phe)
c.2762C>T (p.Ser921Phe)
c.2921C>T (p.Ser974Phe)
c.2942C>T (p.Ser981Phe)
n.3069C>T
c.2636C>T (p.Ser879Phe)
c.2894C>T (p.Ser965Phe)
c.2789C>T (p.Ser930Phe)
c.2735C>T (p.Ser912Phe)
c.2813C>T (p.Ser938Phe)
c.2564C>T (p.Ser855Phe)
c.2795C>T (p.Ser932Phe)
c.1721C>T (p.Ser574Phe)
n.2776C>T
1g.151406114G>CCA341947491POGZc.2969C>G (p.Ser990Cys)
c.2762C>G (p.Ser921Cys)
c.2921C>G (p.Ser974Cys)
c.2942C>G (p.Ser981Cys)
n.3069C>G
c.2636C>G (p.Ser879Cys)
c.2894C>G (p.Ser965Cys)
c.2789C>G (p.Ser930Cys)
c.2735C>G (p.Ser912Cys)
c.2813C>G (p.Ser938Cys)
c.2564C>G (p.Ser855Cys)
c.2795C>G (p.Ser932Cys)
c.1721C>G (p.Ser574Cys)
n.2776C>G
1g.151406114G>TCA341947493POGZc.2969C>A (p.Ser990Tyr)
c.2762C>A (p.Ser921Tyr)
c.2921C>A (p.Ser974Tyr)
c.2942C>A (p.Ser981Tyr)
n.3069C>A
c.2636C>A (p.Ser879Tyr)
c.2894C>A (p.Ser965Tyr)
c.2789C>A (p.Ser930Tyr)
c.2735C>A (p.Ser912Tyr)
c.2813C>A (p.Ser938Tyr)
c.2564C>A (p.Ser855Tyr)
c.2795C>A (p.Ser932Tyr)
c.1721C>A (p.Ser574Tyr)
n.2776C>A
1g.151406115A>CCA341947497POGZc.2968T>G (p.Ser990Ala)
c.2761T>G (p.Ser921Ala)
c.2920T>G (p.Ser974Ala)
c.2941T>G (p.Ser981Ala)
n.3068T>G
c.2635T>G (p.Ser879Ala)
c.2893T>G (p.Ser965Ala)
c.2788T>G (p.Ser930Ala)
c.2734T>G (p.Ser912Ala)
c.2812T>G (p.Ser938Ala)
c.2563T>G (p.Ser855Ala)
c.2794T>G (p.Ser932Ala)
c.1720T>G (p.Ser574Ala)
n.2775T>G
 gnomAD v4
1g.151406115A>GCA341947502POGZc.2968T>C (p.Ser990Pro)
c.2761T>C (p.Ser921Pro)
c.2920T>C (p.Ser974Pro)
c.2941T>C (p.Ser981Pro)
n.3068T>C
c.2635T>C (p.Ser879Pro)
c.2893T>C (p.Ser965Pro)
c.2788T>C (p.Ser930Pro)
c.2734T>C (p.Ser912Pro)
c.2812T>C (p.Ser938Pro)
c.2563T>C (p.Ser855Pro)
c.2794T>C (p.Ser932Pro)
c.1720T>C (p.Ser574Pro)
n.2775T>C
1g.151406115A>TCA341947500POGZc.2968T>A (p.Ser990Thr)
c.2761T>A (p.Ser921Thr)
c.2920T>A (p.Ser974Thr)
c.2941T>A (p.Ser981Thr)
n.3068T>A
c.2635T>A (p.Ser879Thr)
c.2893T>A (p.Ser965Thr)
c.2788T>A (p.Ser930Thr)
c.2734T>A (p.Ser912Thr)
c.2812T>A (p.Ser938Thr)
c.2563T>A (p.Ser855Thr)
c.2794T>A (p.Ser932Thr)
c.1720T>A (p.Ser574Thr)
n.2775T>A
1g.151406116C>ACA420909942POGZc.2967G>T (p.Leu989=)
c.2760G>T (p.Leu920=)
c.2919G>T (p.Leu973=)
c.2940G>T (p.Leu980=)
n.3067G>T
c.2634G>T (p.Leu878=)
c.2892G>T (p.Leu964=)
c.2787G>T (p.Leu929=)
c.2733G>T (p.Leu911=)
c.2811G>T (p.Leu937=)
c.2562G>T (p.Leu854=)
c.2793G>T (p.Leu931=)
c.1719G>T (p.Leu573=)
n.2774G>T
1g.151406116C=CA2479570514POGZc.2967G= (p.Leu989=)
c.2760G= (p.Leu920=)
c.2919G= (p.Leu973=)
c.2940G= (p.Leu980=)
n.3067G=
c.2634G= (p.Leu878=)
c.2892G= (p.Leu964=)
c.2787G= (p.Leu929=)
c.2733G= (p.Leu911=)
c.2811G= (p.Leu937=)
c.2562G= (p.Leu854=)
c.2793G= (p.Leu931=)
c.1719G= (p.Leu573=)
n.2774G=
1g.151406116C>GCA420909943POGZc.2967G>C (p.Leu989=)
c.2760G>C (p.Leu920=)
c.2919G>C (p.Leu973=)
c.2940G>C (p.Leu980=)
n.3067G>C
c.2634G>C (p.Leu878=)
c.2892G>C (p.Leu964=)
c.2787G>C (p.Leu929=)
c.2733G>C (p.Leu911=)
c.2811G>C (p.Leu937=)
c.2562G>C (p.Leu854=)
c.2793G>C (p.Leu931=)
c.1719G>C (p.Leu573=)
n.2774G>C
1g.151406116C>TCA1091034POGZc.2967G>A (p.Leu989=)
c.2760G>A (p.Leu920=)
c.2919G>A (p.Leu973=)
c.2940G>A (p.Leu980=)
n.3067G>A
c.2634G>A (p.Leu878=)
c.2892G>A (p.Leu964=)
c.2787G>A (p.Leu929=)
c.2733G>A (p.Leu911=)
c.2811G>A (p.Leu937=)
c.2562G>A (p.Leu854=)
c.2793G>A (p.Leu931=)
c.1719G>A (p.Leu573=)
n.2774G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.151406117A=CA2479570515POGZc.2966T= (p.Leu989=)
c.2759T= (p.Leu920=)
c.2918T= (p.Leu973=)
c.2939T= (p.Leu980=)
n.3066T=
c.2633T= (p.Leu878=)
c.2891T= (p.Leu964=)
c.2786T= (p.Leu929=)
c.2732T= (p.Leu911=)
c.2810T= (p.Leu937=)
c.2561T= (p.Leu854=)
c.2792T= (p.Leu931=)
c.1718T= (p.Leu573=)
n.2773T=
1g.151406117A>CCA341947512POGZc.2966T>G (p.Leu989Arg)
c.2759T>G (p.Leu920Arg)
c.2918T>G (p.Leu973Arg)
c.2939T>G (p.Leu980Arg)
n.3066T>G
c.2633T>G (p.Leu878Arg)
c.2891T>G (p.Leu964Arg)
c.2786T>G (p.Leu929Arg)
c.2732T>G (p.Leu911Arg)
c.2810T>G (p.Leu937Arg)
c.2561T>G (p.Leu854Arg)
c.2792T>G (p.Leu931Arg)
c.1718T>G (p.Leu573Arg)
n.2773T>G
1g.151406117A>GCA341947514POGZc.2966T>C (p.Leu989Pro)
c.2759T>C (p.Leu920Pro)
c.2918T>C (p.Leu973Pro)
c.2939T>C (p.Leu980Pro)
n.3066T>C
c.2633T>C (p.Leu878Pro)
c.2891T>C (p.Leu964Pro)
c.2786T>C (p.Leu929Pro)
c.2732T>C (p.Leu911Pro)
c.2810T>C (p.Leu937Pro)
c.2561T>C (p.Leu854Pro)
c.2792T>C (p.Leu931Pro)
c.1718T>C (p.Leu573Pro)
n.2773T>C
1g.151406117A>TCA341947517POGZc.2966T>A (p.Leu989Gln)
c.2759T>A (p.Leu920Gln)
c.2918T>A (p.Leu973Gln)
c.2939T>A (p.Leu980Gln)
n.3066T>A
c.2633T>A (p.Leu878Gln)
c.2891T>A (p.Leu964Gln)
c.2786T>A (p.Leu929Gln)
c.2732T>A (p.Leu911Gln)
c.2810T>A (p.Leu937Gln)
c.2561T>A (p.Leu854Gln)
c.2792T>A (p.Leu931Gln)
c.1718T>A (p.Leu573Gln)
n.2773T>A
 dbSNP gnomAD v2 gnomAD v4
1g.151406118G>ACA420909949POGZc.2965C>T (p.Leu989=)
c.2758C>T (p.Leu920=)
c.2917C>T (p.Leu973=)
c.2938C>T (p.Leu980=)
n.3065C>T
c.2632C>T (p.Leu878=)
c.2890C>T (p.Leu964=)
c.2785C>T (p.Leu929=)
c.2731C>T (p.Leu911=)
c.2809C>T (p.Leu937=)
c.2560C>T (p.Leu854=)
c.2791C>T (p.Leu931=)
c.1717C>T (p.Leu573=)
n.2772C>T
1g.151406118G>CCA341947521POGZc.2965C>G (p.Leu989Val)
c.2758C>G (p.Leu920Val)
c.2917C>G (p.Leu973Val)
c.2938C>G (p.Leu980Val)
n.3065C>G
c.2632C>G (p.Leu878Val)
c.2890C>G (p.Leu964Val)
c.2785C>G (p.Leu929Val)
c.2731C>G (p.Leu911Val)
c.2809C>G (p.Leu937Val)
c.2560C>G (p.Leu854Val)
c.2791C>G (p.Leu931Val)
c.1717C>G (p.Leu573Val)
n.2772C>G
1g.151406118G>TCA341947522POGZc.2965C>A (p.Leu989Met)
c.2758C>A (p.Leu920Met)
c.2917C>A (p.Leu973Met)
c.2938C>A (p.Leu980Met)
n.3065C>A
c.2632C>A (p.Leu878Met)
c.2890C>A (p.Leu964Met)
c.2785C>A (p.Leu929Met)
c.2731C>A (p.Leu911Met)
c.2809C>A (p.Leu937Met)
c.2560C>A (p.Leu854Met)
c.2791C>A (p.Leu931Met)
c.1717C>A (p.Leu573Met)
n.2772C>A
1g.151406119C>ACA341947526POGZc.2964G>T (p.Gln988His)
c.2757G>T (p.Gln919His)
c.2916G>T (p.Gln972His)
c.2937G>T (p.Gln979His)
n.3064G>T
c.2631G>T (p.Gln877His)
c.2889G>T (p.Gln963His)
c.2784G>T (p.Gln928His)
c.2730G>T (p.Gln910His)
c.2808G>T (p.Gln936His)
c.2559G>T (p.Gln853His)
c.2790G>T (p.Gln930His)
c.1716G>T (p.Gln572His)
n.2771G>T
1g.151406119C=CA2479570516POGZc.2964G= (p.Gln988=)
c.2757G= (p.Gln919=)
c.2916G= (p.Gln972=)
c.2937G= (p.Gln979=)
n.3064G=
c.2631G= (p.Gln877=)
c.2889G= (p.Gln963=)
c.2784G= (p.Gln928=)
c.2730G= (p.Gln910=)
c.2808G= (p.Gln936=)
c.2559G= (p.Gln853=)
c.2790G= (p.Gln930=)
c.1716G= (p.Gln572=)
n.2771G=
1g.151406119C>GCA341947529POGZc.2964G>C (p.Gln988His)
c.2757G>C (p.Gln919His)
c.2916G>C (p.Gln972His)
c.2937G>C (p.Gln979His)
n.3064G>C
c.2631G>C (p.Gln877His)
c.2889G>C (p.Gln963His)
c.2784G>C (p.Gln928His)
c.2730G>C (p.Gln910His)
c.2808G>C (p.Gln936His)
c.2559G>C (p.Gln853His)
c.2790G>C (p.Gln930His)
c.1716G>C (p.Gln572His)
n.2771G>C
1g.151406119C>TCA1091035POGZc.2964G>A (p.Gln988=)
c.2757G>A (p.Gln919=)
c.2916G>A (p.Gln972=)
c.2937G>A (p.Gln979=)
n.3064G>A
c.2631G>A (p.Gln877=)
c.2889G>A (p.Gln963=)
c.2784G>A (p.Gln928=)
c.2730G>A (p.Gln910=)
c.2808G>A (p.Gln936=)
c.2559G>A (p.Gln853=)
c.2790G>A (p.Gln930=)
c.1716G>A (p.Gln572=)
n.2771G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.151406120T>ACA341947546POGZc.2963A>T (p.Gln988Leu)
c.2756A>T (p.Gln919Leu)
c.2915A>T (p.Gln972Leu)
c.2936A>T (p.Gln979Leu)
n.3063A>T
c.2630A>T (p.Gln877Leu)
c.2888A>T (p.Gln963Leu)
c.2783A>T (p.Gln928Leu)
c.2729A>T (p.Gln910Leu)
c.2807A>T (p.Gln936Leu)
c.2558A>T (p.Gln853Leu)
c.2789A>T (p.Gln930Leu)
c.1715A>T (p.Gln572Leu)
n.2770A>T
1g.151406120T>CCA341947543POGZc.2963A>G (p.Gln988Arg)
c.2756A>G (p.Gln919Arg)
c.2915A>G (p.Gln972Arg)
c.2936A>G (p.Gln979Arg)
n.3063A>G
c.2630A>G (p.Gln877Arg)
c.2888A>G (p.Gln963Arg)
c.2783A>G (p.Gln928Arg)
c.2729A>G (p.Gln910Arg)
c.2807A>G (p.Gln936Arg)
c.2558A>G (p.Gln853Arg)
c.2789A>G (p.Gln930Arg)
c.1715A>G (p.Gln572Arg)
n.2770A>G
1g.151406120T>GCA341947539POGZc.2963A>C (p.Gln988Pro)
c.2756A>C (p.Gln919Pro)
c.2915A>C (p.Gln972Pro)
c.2936A>C (p.Gln979Pro)
n.3063A>C
c.2630A>C (p.Gln877Pro)
c.2888A>C (p.Gln963Pro)
c.2783A>C (p.Gln928Pro)
c.2729A>C (p.Gln910Pro)
c.2807A>C (p.Gln936Pro)
c.2558A>C (p.Gln853Pro)
c.2789A>C (p.Gln930Pro)
c.1715A>C (p.Gln572Pro)
n.2770A>C
1g.151406121G>ACA341947549POGZc.2962C>T (p.Gln988Ter)
c.2755C>T (p.Gln919Ter)
c.2914C>T (p.Gln972Ter)
c.2935C>T (p.Gln979Ter)
n.3062C>T
c.2629C>T (p.Gln877Ter)
c.2887C>T (p.Gln963Ter)
c.2782C>T (p.Gln928Ter)
c.2728C>T (p.Gln910Ter)
c.2806C>T (p.Gln936Ter)
c.2557C>T (p.Gln853Ter)
c.2788C>T (p.Gln930Ter)
c.1714C>T (p.Gln572Ter)
n.2769C>T
 ClinVar dbSNP
1g.151406121G>CCA341947550POGZc.2962C>G (p.Gln988Glu)
c.2755C>G (p.Gln919Glu)
c.2914C>G (p.Gln972Glu)
c.2935C>G (p.Gln979Glu)
n.3062C>G
c.2629C>G (p.Gln877Glu)
c.2887C>G (p.Gln963Glu)
c.2782C>G (p.Gln928Glu)
c.2728C>G (p.Gln910Glu)
c.2806C>G (p.Gln936Glu)
c.2557C>G (p.Gln853Glu)
c.2788C>G (p.Gln930Glu)
c.1714C>G (p.Gln572Glu)
n.2769C>G
1g.151406121G=CA2479570517POGZc.2962C= (p.Gln988=)
c.2755C= (p.Gln919=)
c.2914C= (p.Gln972=)
c.2935C= (p.Gln979=)
n.3062C=
c.2629C= (p.Gln877=)
c.2887C= (p.Gln963=)
c.2782C= (p.Gln928=)
c.2728C= (p.Gln910=)
c.2806C= (p.Gln936=)
c.2557C= (p.Gln853=)
c.2788C= (p.Gln930=)
c.1714C= (p.Gln572=)
n.2769C=
1g.151406121G>TCA341947551POGZc.2962C>A (p.Gln988Lys)
c.2755C>A (p.Gln919Lys)
c.2914C>A (p.Gln972Lys)
c.2935C>A (p.Gln979Lys)
n.3062C>A
c.2629C>A (p.Gln877Lys)
c.2887C>A (p.Gln963Lys)
c.2782C>A (p.Gln928Lys)
c.2728C>A (p.Gln910Lys)
c.2806C>A (p.Gln936Lys)
c.2557C>A (p.Gln853Lys)
c.2788C>A (p.Gln930Lys)
c.1714C>A (p.Gln572Lys)
n.2769C>A
1g.151406122C>ACA341947553POGZc.2961G>T (p.Glu987Asp)
c.2754G>T (p.Glu918Asp)
c.2913G>T (p.Glu971Asp)
c.2934G>T (p.Glu978Asp)
n.3061G>T
c.2628G>T (p.Glu876Asp)
c.2886G>T (p.Glu962Asp)
c.2781G>T (p.Glu927Asp)
c.2727G>T (p.Glu909Asp)
c.2805G>T (p.Glu935Asp)
c.2556G>T (p.Glu852Asp)
c.2787G>T (p.Glu929Asp)
c.1713G>T (p.Glu571Asp)
n.2768G>T
1g.151406122C=CA1141367361POGZc.2961G= (p.Glu987=)
c.2754G= (p.Glu918=)
c.2913G= (p.Glu971=)
c.2934G= (p.Glu978=)
n.3061G=
c.2628G= (p.Glu876=)
c.2886G= (p.Glu962=)
c.2781G= (p.Glu927=)
c.2727G= (p.Glu909=)
c.2805G= (p.Glu935=)
c.2556G= (p.Glu852=)
c.2787G= (p.Glu929=)
c.1713G= (p.Glu571=)
n.2768G=
1g.151406122C>GCA341947555POGZc.2961G>C (p.Glu987Asp)
c.2754G>C (p.Glu918Asp)
c.2913G>C (p.Glu971Asp)
c.2934G>C (p.Glu978Asp)
n.3061G>C
c.2628G>C (p.Glu876Asp)
c.2886G>C (p.Glu962Asp)
c.2781G>C (p.Glu927Asp)
c.2727G>C (p.Glu909Asp)
c.2805G>C (p.Glu935Asp)
c.2556G>C (p.Glu852Asp)
c.2787G>C (p.Glu929Asp)
c.1713G>C (p.Glu571Asp)
n.2768G>C
1g.151406122C>TCA1091036POGZc.2961G>A (p.Glu987=)
c.2754G>A (p.Glu918=)
c.2913G>A (p.Glu971=)
c.2934G>A (p.Glu978=)
n.3061G>A
c.2628G>A (p.Glu876=)
c.2886G>A (p.Glu962=)
c.2781G>A (p.Glu927=)
c.2727G>A (p.Glu909=)
c.2805G>A (p.Glu935=)
c.2556G>A (p.Glu852=)
c.2787G>A (p.Glu929=)
c.1713G>A (p.Glu571=)
n.2768G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.151406123T>ACA341947593POGZc.2960A>T (p.Glu987Val)
c.2753A>T (p.Glu918Val)
c.2912A>T (p.Glu971Val)
c.2933A>T (p.Glu978Val)
n.3060A>T
c.2627A>T (p.Glu876Val)
c.2885A>T (p.Glu962Val)
c.2780A>T (p.Glu927Val)
c.2726A>T (p.Glu909Val)
c.2804A>T (p.Glu935Val)
c.2555A>T (p.Glu852Val)
c.2786A>T (p.Glu929Val)
c.1712A>T (p.Glu571Val)
n.2767A>T
1g.151406123T>CCA341947596POGZc.2960A>G (p.Glu987Gly)
c.2753A>G (p.Glu918Gly)
c.2912A>G (p.Glu971Gly)
c.2933A>G (p.Glu978Gly)
n.3060A>G
c.2627A>G (p.Glu876Gly)
c.2885A>G (p.Glu962Gly)
c.2780A>G (p.Glu927Gly)
c.2726A>G (p.Glu909Gly)
c.2804A>G (p.Glu935Gly)
c.2555A>G (p.Glu852Gly)
c.2786A>G (p.Glu929Gly)
c.1712A>G (p.Glu571Gly)
n.2767A>G
1g.151406123T>GCA341947598POGZc.2960A>C (p.Glu987Ala)
c.2753A>C (p.Glu918Ala)
c.2912A>C (p.Glu971Ala)
c.2933A>C (p.Glu978Ala)
n.3060A>C
c.2627A>C (p.Glu876Ala)
c.2885A>C (p.Glu962Ala)
c.2780A>C (p.Glu927Ala)
c.2726A>C (p.Glu909Ala)
c.2804A>C (p.Glu935Ala)
c.2555A>C (p.Glu852Ala)
c.2786A>C (p.Glu929Ala)
c.1712A>C (p.Glu571Ala)
n.2767A>C
1g.151406124C>ACA341947606POGZc.2959G>T (p.Glu987Ter)
c.2752G>T (p.Glu918Ter)
c.2911G>T (p.Glu971Ter)
c.2932G>T (p.Glu978Ter)
n.3059G>T
c.2626G>T (p.Glu876Ter)
c.2884G>T (p.Glu962Ter)
c.2779G>T (p.Glu927Ter)
c.2725G>T (p.Glu909Ter)
c.2803G>T (p.Glu935Ter)
c.2554G>T (p.Glu852Ter)
c.2785G>T (p.Glu929Ter)
c.1711G>T (p.Glu571Ter)
n.2766G>T
1g.151406124C>GCA341947609POGZc.2959G>C (p.Glu987Gln)
c.2752G>C (p.Glu918Gln)
c.2911G>C (p.Glu971Gln)
c.2932G>C (p.Glu978Gln)
n.3059G>C
c.2626G>C (p.Glu876Gln)
c.2884G>C (p.Glu962Gln)
c.2779G>C (p.Glu927Gln)
c.2725G>C (p.Glu909Gln)
c.2803G>C (p.Glu935Gln)
c.2554G>C (p.Glu852Gln)
c.2785G>C (p.Glu929Gln)
c.1711G>C (p.Glu571Gln)
n.2766G>C
1g.151406124C>TCA341947623POGZc.2959G>A (p.Glu987Lys)
c.2752G>A (p.Glu918Lys)
c.2911G>A (p.Glu971Lys)
c.2932G>A (p.Glu978Lys)
n.3059G>A
c.2626G>A (p.Glu876Lys)
c.2884G>A (p.Glu962Lys)
c.2779G>A (p.Glu927Lys)
c.2725G>A (p.Glu909Lys)
c.2803G>A (p.Glu935Lys)
c.2554G>A (p.Glu852Lys)
c.2785G>A (p.Glu929Lys)
c.1711G>A (p.Glu571Lys)
n.2766G>A
1g.151406125C>ACA341947632POGZc.2958G>T (p.Lys986Asn)
c.2751G>T (p.Lys917Asn)
c.2910G>T (p.Lys970Asn)
c.2931G>T (p.Lys977Asn)
n.3058G>T
c.2625G>T (p.Lys875Asn)
c.2883G>T (p.Lys961Asn)
c.2778G>T (p.Lys926Asn)
c.2724G>T (p.Lys908Asn)
c.2802G>T (p.Lys934Asn)
c.2553G>T (p.Lys851Asn)
c.2784G>T (p.Lys928Asn)
c.1710G>T (p.Lys570Asn)
n.2765G>T
1g.151406125C=CA1143365921POGZc.2958G= (p.Lys986=)
c.2751G= (p.Lys917=)
c.2910G= (p.Lys970=)
c.2931G= (p.Lys977=)
n.3058G=
c.2625G= (p.Lys875=)
c.2883G= (p.Lys961=)
c.2778G= (p.Lys926=)
c.2724G= (p.Lys908=)
c.2802G= (p.Lys934=)
c.2553G= (p.Lys851=)
c.2784G= (p.Lys928=)
c.1710G= (p.Lys570=)
n.2765G=
1g.151406125C>GCA341947629POGZc.2958G>C (p.Lys986Asn)
c.2751G>C (p.Lys917Asn)
c.2910G>C (p.Lys970Asn)
c.2931G>C (p.Lys977Asn)
n.3058G>C
c.2625G>C (p.Lys875Asn)
c.2883G>C (p.Lys961Asn)
c.2778G>C (p.Lys926Asn)
c.2724G>C (p.Lys908Asn)
c.2802G>C (p.Lys934Asn)
c.2553G>C (p.Lys851Asn)
c.2784G>C (p.Lys928Asn)
c.1710G>C (p.Lys570Asn)
n.2765G>C
1g.151406125C>TCA1091037POGZc.2958G>A (p.Lys986=)
c.2751G>A (p.Lys917=)
c.2910G>A (p.Lys970=)
c.2931G>A (p.Lys977=)
n.3058G>A
c.2625G>A (p.Lys875=)
c.2883G>A (p.Lys961=)
c.2778G>A (p.Lys926=)
c.2724G>A (p.Lys908=)
c.2802G>A (p.Lys934=)
c.2553G>A (p.Lys851=)
c.2784G>A (p.Lys928=)
c.1710G>A (p.Lys570=)
n.2765G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.151406126T>ACA341947636POGZc.2957A>T (p.Lys986Met)
c.2750A>T (p.Lys917Met)
c.2909A>T (p.Lys970Met)
c.2930A>T (p.Lys977Met)
n.3057A>T
c.2624A>T (p.Lys875Met)
c.2882A>T (p.Lys961Met)
c.2777A>T (p.Lys926Met)
c.2723A>T (p.Lys908Met)
c.2801A>T (p.Lys934Met)
c.2552A>T (p.Lys851Met)
c.2783A>T (p.Lys928Met)
c.1709A>T (p.Lys570Met)
n.2764A>T
1g.151406126T>CCA341947641POGZc.2957A>G (p.Lys986Arg)
c.2750A>G (p.Lys917Arg)
c.2909A>G (p.Lys970Arg)
c.2930A>G (p.Lys977Arg)
n.3057A>G
c.2624A>G (p.Lys875Arg)
c.2882A>G (p.Lys961Arg)
c.2777A>G (p.Lys926Arg)
c.2723A>G (p.Lys908Arg)
c.2801A>G (p.Lys934Arg)
c.2552A>G (p.Lys851Arg)
c.2783A>G (p.Lys928Arg)
c.1709A>G (p.Lys570Arg)
n.2764A>G
1g.151406126T>GCA341947650POGZc.2957A>C (p.Lys986Thr)
c.2750A>C (p.Lys917Thr)
c.2909A>C (p.Lys970Thr)
c.2930A>C (p.Lys977Thr)
n.3057A>C
c.2624A>C (p.Lys875Thr)
c.2882A>C (p.Lys961Thr)
c.2777A>C (p.Lys926Thr)
c.2723A>C (p.Lys908Thr)
c.2801A>C (p.Lys934Thr)
c.2552A>C (p.Lys851Thr)
c.2783A>C (p.Lys928Thr)
c.1709A>C (p.Lys570Thr)
n.2764A>C
1g.151406127T>ACA341947655POGZc.2956A>T (p.Lys986Ter)
c.2749A>T (p.Lys917Ter)
c.2908A>T (p.Lys970Ter)
c.2929A>T (p.Lys977Ter)
n.3056A>T
c.2623A>T (p.Lys875Ter)
c.2881A>T (p.Lys961Ter)
c.2776A>T (p.Lys926Ter)
c.2722A>T (p.Lys908Ter)
c.2800A>T (p.Lys934Ter)
c.2551A>T (p.Lys851Ter)
c.2782A>T (p.Lys928Ter)
c.1708A>T (p.Lys570Ter)
n.2763A>T
1g.151406127T>CCA341947658POGZc.2956A>G (p.Lys986Glu)
c.2749A>G (p.Lys917Glu)
c.2908A>G (p.Lys970Glu)
c.2929A>G (p.Lys977Glu)
n.3056A>G
c.2623A>G (p.Lys875Glu)
c.2881A>G (p.Lys961Glu)
c.2776A>G (p.Lys926Glu)
c.2722A>G (p.Lys908Glu)
c.2800A>G (p.Lys934Glu)
c.2551A>G (p.Lys851Glu)
c.2782A>G (p.Lys928Glu)
c.1708A>G (p.Lys570Glu)
n.2763A>G
1g.151406127T>GCA341947661POGZc.2956A>C (p.Lys986Gln)
c.2749A>C (p.Lys917Gln)
c.2908A>C (p.Lys970Gln)
c.2929A>C (p.Lys977Gln)
n.3056A>C
c.2623A>C (p.Lys875Gln)
c.2881A>C (p.Lys961Gln)
c.2776A>C (p.Lys926Gln)
c.2722A>C (p.Lys908Gln)
c.2800A>C (p.Lys934Gln)
c.2551A>C (p.Lys851Gln)
c.2782A>C (p.Lys928Gln)
c.1708A>C (p.Lys570Gln)
n.2763A>C
1g.151406128T>ACA341947674POGZc.2955A>T (p.Lys985Asn)
c.2748A>T (p.Lys916Asn)
c.2907A>T (p.Lys969Asn)
c.2928A>T (p.Lys976Asn)
n.3055A>T
c.2622A>T (p.Lys874Asn)
c.2880A>T (p.Lys960Asn)
c.2775A>T (p.Lys925Asn)
c.2721A>T (p.Lys907Asn)
c.2799A>T (p.Lys933Asn)
c.2550A>T (p.Lys850Asn)
c.2781A>T (p.Lys927Asn)
c.1707A>T (p.Lys569Asn)
n.2762A>T
1g.151406128T>CCA420909959POGZc.2955A>G (p.Lys985=)
c.2748A>G (p.Lys916=)
c.2907A>G (p.Lys969=)
c.2928A>G (p.Lys976=)
n.3055A>G
c.2622A>G (p.Lys874=)
c.2880A>G (p.Lys960=)
c.2775A>G (p.Lys925=)
c.2721A>G (p.Lys907=)
c.2799A>G (p.Lys933=)
c.2550A>G (p.Lys850=)
c.2781A>G (p.Lys927=)
c.1707A>G (p.Lys569=)
n.2762A>G
1g.151406128T>GCA341947677POGZc.2955A>C (p.Lys985Asn)
c.2748A>C (p.Lys916Asn)
c.2907A>C (p.Lys969Asn)
c.2928A>C (p.Lys976Asn)
n.3055A>C
c.2622A>C (p.Lys874Asn)
c.2880A>C (p.Lys960Asn)
c.2775A>C (p.Lys925Asn)
c.2721A>C (p.Lys907Asn)
c.2799A>C (p.Lys933Asn)
c.2550A>C (p.Lys850Asn)
c.2781A>C (p.Lys927Asn)
c.1707A>C (p.Lys569Asn)
n.2762A>C
1g.151406129T>ACA341947684POGZc.2954A>T (p.Lys985Ile)
c.2747A>T (p.Lys916Ile)
c.2906A>T (p.Lys969Ile)
c.2927A>T (p.Lys976Ile)
n.3054A>T
c.2621A>T (p.Lys874Ile)
c.2879A>T (p.Lys960Ile)
c.2774A>T (p.Lys925Ile)
c.2720A>T (p.Lys907Ile)
c.2798A>T (p.Lys933Ile)
c.2549A>T (p.Lys850Ile)
c.2780A>T (p.Lys927Ile)
c.1706A>T (p.Lys569Ile)
n.2761A>T
1g.151406129T>CCA29569232POGZc.2954A>G (p.Lys985Arg)
c.2747A>G (p.Lys916Arg)
c.2906A>G (p.Lys969Arg)
c.2927A>G (p.Lys976Arg)
n.3054A>G
c.2621A>G (p.Lys874Arg)
c.2879A>G (p.Lys960Arg)
c.2774A>G (p.Lys925Arg)
c.2720A>G (p.Lys907Arg)
c.2798A>G (p.Lys933Arg)
c.2549A>G (p.Lys850Arg)
c.2780A>G (p.Lys927Arg)
c.1706A>G (p.Lys569Arg)
n.2761A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.151406129T>GCA341947689POGZc.2954A>C (p.Lys985Thr)
c.2747A>C (p.Lys916Thr)
c.2906A>C (p.Lys969Thr)
c.2927A>C (p.Lys976Thr)
n.3054A>C
c.2621A>C (p.Lys874Thr)
c.2879A>C (p.Lys960Thr)
c.2774A>C (p.Lys925Thr)
c.2720A>C (p.Lys907Thr)
c.2798A>C (p.Lys933Thr)
c.2549A>C (p.Lys850Thr)
c.2780A>C (p.Lys927Thr)
c.1706A>C (p.Lys569Thr)
n.2761A>C
1g.151406129T=CA1141960376POGZc.2954A= (p.Lys985=)
c.2747A= (p.Lys916=)
c.2906A= (p.Lys969=)
c.2927A= (p.Lys976=)
n.3054A=
c.2621A= (p.Lys874=)
c.2879A= (p.Lys960=)
c.2774A= (p.Lys925=)
c.2720A= (p.Lys907=)
c.2798A= (p.Lys933=)
c.2549A= (p.Lys850=)
c.2780A= (p.Lys927=)
c.1706A= (p.Lys569=)
n.2761A=
1g.151406130T>ACA341947700POGZc.2953A>T (p.Lys985Ter)
c.2746A>T (p.Lys916Ter)
c.2905A>T (p.Lys969Ter)
c.2926A>T (p.Lys976Ter)
n.3053A>T
c.2620A>T (p.Lys874Ter)
c.2878A>T (p.Lys960Ter)
c.2773A>T (p.Lys925Ter)
c.2719A>T (p.Lys907Ter)
c.2797A>T (p.Lys933Ter)
c.2548A>T (p.Lys850Ter)
c.2779A>T (p.Lys927Ter)
c.1705A>T (p.Lys569Ter)
n.2760A>T
1g.151406130T>CCA341947695POGZc.2953A>G (p.Lys985Glu)
c.2746A>G (p.Lys916Glu)
c.2905A>G (p.Lys969Glu)
c.2926A>G (p.Lys976Glu)
n.3053A>G
c.2620A>G (p.Lys874Glu)
c.2878A>G (p.Lys960Glu)
c.2773A>G (p.Lys925Glu)
c.2719A>G (p.Lys907Glu)
c.2797A>G (p.Lys933Glu)
c.2548A>G (p.Lys850Glu)
c.2779A>G (p.Lys927Glu)
c.1705A>G (p.Lys569Glu)
n.2760A>G
1g.151406130T>GCA341947693POGZc.2953A>C (p.Lys985Gln)
c.2746A>C (p.Lys916Gln)
c.2905A>C (p.Lys969Gln)
c.2926A>C (p.Lys976Gln)
n.3053A>C
c.2620A>C (p.Lys874Gln)
c.2878A>C (p.Lys960Gln)
c.2773A>C (p.Lys925Gln)
c.2719A>C (p.Lys907Gln)
c.2797A>C (p.Lys933Gln)
c.2548A>C (p.Lys850Gln)
c.2779A>C (p.Lys927Gln)
c.1705A>C (p.Lys569Gln)
n.2760A>C
1g.151406131G>ACA420909963POGZc.2952C>T (p.Gly984=)
c.2745C>T (p.Gly915=)
c.2904C>T (p.Gly968=)
c.2925C>T (p.Gly975=)
n.3052C>T
c.2619C>T (p.Gly873=)
c.2877C>T (p.Gly959=)
c.2772C>T (p.Gly924=)
c.2718C>T (p.Gly906=)
c.2796C>T (p.Gly932=)
c.2547C>T (p.Gly849=)
c.2778C>T (p.Gly926=)
c.1704C>T (p.Gly568=)
n.2759C>T
 gnomAD v4
1g.151406131G>CCA420909965POGZc.2952C>G (p.Gly984=)
c.2745C>G (p.Gly915=)
c.2904C>G (p.Gly968=)
c.2925C>G (p.Gly975=)
n.3052C>G
c.2619C>G (p.Gly873=)
c.2877C>G (p.Gly959=)
c.2772C>G (p.Gly924=)
c.2718C>G (p.Gly906=)
c.2796C>G (p.Gly932=)
c.2547C>G (p.Gly849=)
c.2778C>G (p.Gly926=)
c.1704C>G (p.Gly568=)
n.2759C>G
1g.151406131G=CA2479570518POGZc.2952C= (p.Gly984=)
c.2745C= (p.Gly915=)
c.2904C= (p.Gly968=)
c.2925C= (p.Gly975=)
n.3052C=
c.2619C= (p.Gly873=)
c.2877C= (p.Gly959=)
c.2772C= (p.Gly924=)
c.2718C= (p.Gly906=)
c.2796C= (p.Gly932=)
c.2547C= (p.Gly849=)
c.2778C= (p.Gly926=)
c.1704C= (p.Gly568=)
n.2759C=
1g.151406131G>TCA420909966POGZc.2952C>A (p.Gly984=)
c.2745C>A (p.Gly915=)
c.2904C>A (p.Gly968=)
c.2925C>A (p.Gly975=)
n.3052C>A
c.2619C>A (p.Gly873=)
c.2877C>A (p.Gly959=)
c.2772C>A (p.Gly924=)
c.2718C>A (p.Gly906=)
c.2796C>A (p.Gly932=)
c.2547C>A (p.Gly849=)
c.2778C>A (p.Gly926=)
c.1704C>A (p.Gly568=)
n.2759C>A
 dbSNP
1g.151406132C>ACA341947703POGZc.2951G>T (p.Gly984Val)
c.2744G>T (p.Gly915Val)
c.2903G>T (p.Gly968Val)
c.2924G>T (p.Gly975Val)
n.3051G>T
c.2618G>T (p.Gly873Val)
c.2876G>T (p.Gly959Val)
c.2771G>T (p.Gly924Val)
c.2717G>T (p.Gly906Val)
c.2795G>T (p.Gly932Val)
c.2546G>T (p.Gly849Val)
c.2777G>T (p.Gly926Val)
c.1703G>T (p.Gly568Val)
n.2758G>T
1g.151406132C=CA2479570519POGZc.2951G= (p.Gly984=)
c.2744G= (p.Gly915=)
c.2903G= (p.Gly968=)
c.2924G= (p.Gly975=)
n.3051G=
c.2618G= (p.Gly873=)
c.2876G= (p.Gly959=)
c.2771G= (p.Gly924=)
c.2717G= (p.Gly906=)
c.2795G= (p.Gly932=)
c.2546G= (p.Gly849=)
c.2777G= (p.Gly926=)
c.1703G= (p.Gly568=)
n.2758G=
1g.151406132C>GCA341947706POGZc.2951G>C (p.Gly984Ala)
c.2744G>C (p.Gly915Ala)
c.2903G>C (p.Gly968Ala)
c.2924G>C (p.Gly975Ala)
n.3051G>C
c.2618G>C (p.Gly873Ala)
c.2876G>C (p.Gly959Ala)
c.2771G>C (p.Gly924Ala)
c.2717G>C (p.Gly906Ala)
c.2795G>C (p.Gly932Ala)
c.2546G>C (p.Gly849Ala)
c.2777G>C (p.Gly926Ala)
c.1703G>C (p.Gly568Ala)
n.2758G>C
1g.151406132C>TCA1091038POGZc.2951G>A (p.Gly984Asp)
c.2744G>A (p.Gly915Asp)
c.2903G>A (p.Gly968Asp)
c.2924G>A (p.Gly975Asp)
n.3051G>A
c.2618G>A (p.Gly873Asp)
c.2876G>A (p.Gly959Asp)
c.2771G>A (p.Gly924Asp)
c.2717G>A (p.Gly906Asp)
c.2795G>A (p.Gly932Asp)
c.2546G>A (p.Gly849Asp)
c.2777G>A (p.Gly926Asp)
c.1703G>A (p.Gly568Asp)
n.2758G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.151406133C>ACA341947713POGZc.2950G>T (p.Gly984Cys)
c.2743G>T (p.Gly915Cys)
c.2902G>T (p.Gly968Cys)
c.2923G>T (p.Gly975Cys)
n.3050G>T
c.2617G>T (p.Gly873Cys)
c.2875G>T (p.Gly959Cys)
c.2770G>T (p.Gly924Cys)
c.2716G>T (p.Gly906Cys)
c.2794G>T (p.Gly932Cys)
c.2545G>T (p.Gly849Cys)
c.2776G>T (p.Gly926Cys)
c.1702G>T (p.Gly568Cys)
n.2757G>T
1g.151406133C>GCA341947716POGZc.2950G>C (p.Gly984Arg)
c.2743G>C (p.Gly915Arg)
c.2902G>C (p.Gly968Arg)
c.2923G>C (p.Gly975Arg)
n.3050G>C
c.2617G>C (p.Gly873Arg)
c.2875G>C (p.Gly959Arg)
c.2770G>C (p.Gly924Arg)
c.2716G>C (p.Gly906Arg)
c.2794G>C (p.Gly932Arg)
c.2545G>C (p.Gly849Arg)
c.2776G>C (p.Gly926Arg)
c.1702G>C (p.Gly568Arg)
n.2757G>C
1g.151406133C>TCA341947719POGZc.2950G>A (p.Gly984Ser)
c.2743G>A (p.Gly915Ser)
c.2902G>A (p.Gly968Ser)
c.2923G>A (p.Gly975Ser)
n.3050G>A
c.2617G>A (p.Gly873Ser)
c.2875G>A (p.Gly959Ser)
c.2770G>A (p.Gly924Ser)
c.2716G>A (p.Gly906Ser)
c.2794G>A (p.Gly932Ser)
c.2545G>A (p.Gly849Ser)
c.2776G>A (p.Gly926Ser)
c.1702G>A (p.Gly568Ser)
n.2757G>A
1g.151406134A=CA2479570520POGZc.2949T= (p.Val983=)
c.2742T= (p.Val914=)
c.2901T= (p.Val967=)
c.2922T= (p.Val974=)
n.3049T=
c.2616T= (p.Val872=)
c.2874T= (p.Val958=)
c.2769T= (p.Val923=)
c.2715T= (p.Val905=)
c.2793T= (p.Val931=)
c.2544T= (p.Val848=)
c.2775T= (p.Val925=)
c.1701T= (p.Val567=)
n.2756T=
1g.151406134A>CCA420909968POGZc.2949T>G (p.Val983=)
c.2742T>G (p.Val914=)
c.2901T>G (p.Val967=)
c.2922T>G (p.Val974=)
n.3049T>G
c.2616T>G (p.Val872=)
c.2874T>G (p.Val958=)
c.2769T>G (p.Val923=)
c.2715T>G (p.Val905=)
c.2793T>G (p.Val931=)
c.2544T>G (p.Val848=)
c.2775T>G (p.Val925=)
c.1701T>G (p.Val567=)
n.2756T>G
1g.151406134A>GCA420909969POGZc.2949T>C (p.Val983=)
c.2742T>C (p.Val914=)
c.2901T>C (p.Val967=)
c.2922T>C (p.Val974=)
n.3049T>C
c.2616T>C (p.Val872=)
c.2874T>C (p.Val958=)
c.2769T>C (p.Val923=)
c.2715T>C (p.Val905=)
c.2793T>C (p.Val931=)
c.2544T>C (p.Val848=)
c.2775T>C (p.Val925=)
c.1701T>C (p.Val567=)
n.2756T>C
 dbSNP
1g.151406134A>TCA420909970POGZc.2949T>A (p.Val983=)
c.2742T>A (p.Val914=)
c.2901T>A (p.Val967=)
c.2922T>A (p.Val974=)
n.3049T>A
c.2616T>A (p.Val872=)
c.2874T>A (p.Val958=)
c.2769T>A (p.Val923=)
c.2715T>A (p.Val905=)
c.2793T>A (p.Val931=)
c.2544T>A (p.Val848=)
c.2775T>A (p.Val925=)
c.1701T>A (p.Val567=)
n.2756T>A

Number of alleles fetched