Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.151406109_151406111delinsTCA | CA2479570512 | POGZ | c.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 | |
1 | g.151406112_151406113del | CA16616969 | POGZ | c.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 |
1 | g.151406111A>C | CA341947470 | POGZ | c.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 |
1 | g.151406111A>G | CA341947473 | POGZ | c.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 | |
1 | g.151406111A>T | CA341947476 | POGZ | c.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 | |
1 | g.151406112C>A | CA341947479 | POGZ | c.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 | |
1 | g.151406112C>G | CA341947482 | POGZ | c.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 | |
1 | g.151406112C>T | CA341947484 | POGZ | c.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 | |
1 | g.151406113A>C | CA420909932 | POGZ | c.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 | |
1 | g.151406113A>G | CA420909934 | POGZ | c.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 | |
1 | g.151406113A>T | CA420909936 | POGZ | c.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 | |
1 | g.151406114G>A | CA341947488 | POGZ | c.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 | |
1 | g.151406114G>C | CA341947491 | POGZ | c.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 | |
1 | g.151406114G>T | CA341947493 | POGZ | c.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 | |
1 | g.151406115A>C | CA341947497 | POGZ | c.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 |
1 | g.151406115A>G | CA341947502 | POGZ | c.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 | |
1 | g.151406115A>T | CA341947500 | POGZ | c.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 | |
1 | g.151406116C>A | CA420909942 | POGZ | c.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 | |
1 | g.151406116C= | CA2479570514 | POGZ | c.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= | |
1 | g.151406116C>G | CA420909943 | POGZ | c.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 | |
1 | g.151406116C>T | CA1091034 | POGZ | c.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 |
1 | g.151406117A= | CA2479570515 | POGZ | c.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= | |
1 | g.151406117A>C | CA341947512 | POGZ | c.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 | |
1 | g.151406117A>G | CA341947514 | POGZ | c.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 | |
1 | g.151406117A>T | CA341947517 | POGZ | c.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 |
1 | g.151406118G>A | CA420909949 | POGZ | c.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 | |
1 | g.151406118G>C | CA341947521 | POGZ | c.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 | |
1 | g.151406118G>T | CA341947522 | POGZ | c.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 | |
1 | g.151406119C>A | CA341947526 | POGZ | c.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 | |
1 | g.151406119C= | CA2479570516 | POGZ | c.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= | |
1 | g.151406119C>G | CA341947529 | POGZ | c.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 | |
1 | g.151406119C>T | CA1091035 | POGZ | c.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 |
1 | g.151406120T>A | CA341947546 | POGZ | c.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 | |
1 | g.151406120T>C | CA341947543 | POGZ | c.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 | |
1 | g.151406120T>G | CA341947539 | POGZ | c.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 | |
1 | g.151406121G>A | CA341947549 | POGZ | c.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 |
1 | g.151406121G>C | CA341947550 | POGZ | c.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 | |
1 | g.151406121G= | CA2479570517 | POGZ | c.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= | |
1 | g.151406121G>T | CA341947551 | POGZ | c.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 | |
1 | g.151406122C>A | CA341947553 | POGZ | c.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 | |
1 | g.151406122C= | CA1141367361 | POGZ | c.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= | |
1 | g.151406122C>G | CA341947555 | POGZ | c.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 | |
1 | g.151406122C>T | CA1091036 | POGZ | c.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 |
1 | g.151406123T>A | CA341947593 | POGZ | c.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 | |
1 | g.151406123T>C | CA341947596 | POGZ | c.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 | |
1 | g.151406123T>G | CA341947598 | POGZ | c.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 | |
1 | g.151406124C>A | CA341947606 | POGZ | c.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 | |
1 | g.151406124C>G | CA341947609 | POGZ | c.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 | |
1 | g.151406124C>T | CA341947623 | POGZ | c.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 | |
1 | g.151406125C>A | CA341947632 | POGZ | c.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 | |
1 | g.151406125C= | CA1143365921 | POGZ | c.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= | |
1 | g.151406125C>G | CA341947629 | POGZ | c.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 | |
1 | g.151406125C>T | CA1091037 | POGZ | c.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 |
1 | g.151406126T>A | CA341947636 | POGZ | c.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 | |
1 | g.151406126T>C | CA341947641 | POGZ | c.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 | |
1 | g.151406126T>G | CA341947650 | POGZ | c.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 | |
1 | g.151406127T>A | CA341947655 | POGZ | c.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 | |
1 | g.151406127T>C | CA341947658 | POGZ | c.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 | |
1 | g.151406127T>G | CA341947661 | POGZ | c.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 | |
1 | g.151406128T>A | CA341947674 | POGZ | c.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 | |
1 | g.151406128T>C | CA420909959 | POGZ | c.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 | |
1 | g.151406128T>G | CA341947677 | POGZ | c.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 | |
1 | g.151406129T>A | CA341947684 | POGZ | c.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 | |
1 | g.151406129T>C | CA29569232 | POGZ | c.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 |
1 | g.151406129T>G | CA341947689 | POGZ | c.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 | |
1 | g.151406129T= | CA1141960376 | POGZ | c.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= | |
1 | g.151406130T>A | CA341947700 | POGZ | c.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 | |
1 | g.151406130T>C | CA341947695 | POGZ | c.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 | |
1 | g.151406130T>G | CA341947693 | POGZ | c.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 | |
1 | g.151406131G>A | CA420909963 | POGZ | c.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 |
1 | g.151406131G>C | CA420909965 | POGZ | c.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 | |
1 | g.151406131G= | CA2479570518 | POGZ | c.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= | |
1 | g.151406131G>T | CA420909966 | POGZ | c.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 |
1 | g.151406132C>A | CA341947703 | POGZ | c.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 | |
1 | g.151406132C= | CA2479570519 | POGZ | c.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= | |
1 | g.151406132C>G | CA341947706 | POGZ | c.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 | |
1 | g.151406132C>T | CA1091038 | POGZ | c.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 |
1 | g.151406133C>A | CA341947713 | POGZ | c.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 | |
1 | g.151406133C>G | CA341947716 | POGZ | c.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 | |
1 | g.151406133C>T | CA341947719 | POGZ | c.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 | |
1 | g.151406134A= | CA2479570520 | POGZ | c.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= | |
1 | g.151406134A>C | CA420909968 | POGZ | c.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 | |
1 | g.151406134A>G | CA420909969 | POGZ | c.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 |
1 | g.151406134A>T | CA420909970 | POGZ | c.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 | |
1 | g.151406135A= | CA2479570521 | POGZ | c.2948T= (p.Val983=) c.2741T= (p.Val914=) c.2900T= (p.Val967=) c.2921T= (p.Val974=) n.3048T= c.2615T= (p.Val872=) c.2873T= (p.Val958=) c.2768T= (p.Val923=) c.2714T= (p.Val905=) c.2792T= (p.Val931=) c.2543T= (p.Val848=) c.2774T= (p.Val925=) c.1700T= (p.Val567=) n.2755T= | |
1 | g.151406135A>C | CA341947731 | POGZ | c.2948T>G (p.Val983Gly) c.2741T>G (p.Val914Gly) c.2900T>G (p.Val967Gly) c.2921T>G (p.Val974Gly) n.3048T>G c.2615T>G (p.Val872Gly) c.2873T>G (p.Val958Gly) c.2768T>G (p.Val923Gly) c.2714T>G (p.Val905Gly) c.2792T>G (p.Val931Gly) c.2543T>G (p.Val848Gly) c.2774T>G (p.Val925Gly) c.1700T>G (p.Val567Gly) n.2755T>G | |
1 | g.151406135A>G | CA341947727 | POGZ | c.2948T>C (p.Val983Ala) c.2741T>C (p.Val914Ala) c.2900T>C (p.Val967Ala) c.2921T>C (p.Val974Ala) n.3048T>C c.2615T>C (p.Val872Ala) c.2873T>C (p.Val958Ala) c.2768T>C (p.Val923Ala) c.2714T>C (p.Val905Ala) c.2792T>C (p.Val931Ala) c.2543T>C (p.Val848Ala) c.2774T>C (p.Val925Ala) c.1700T>C (p.Val567Ala) n.2755T>C | dbSNP gnomAD v4 |
1 | g.151406135A>T | CA341947724 | POGZ | c.2948T>A (p.Val983Asp) c.2741T>A (p.Val914Asp) c.2900T>A (p.Val967Asp) c.2921T>A (p.Val974Asp) n.3048T>A c.2615T>A (p.Val872Asp) c.2873T>A (p.Val958Asp) c.2768T>A (p.Val923Asp) c.2714T>A (p.Val905Asp) c.2792T>A (p.Val931Asp) c.2543T>A (p.Val848Asp) c.2774T>A (p.Val925Asp) c.1700T>A (p.Val567Asp) n.2755T>A | |
1 | g.151406136C>A | CA341947734 | POGZ | c.2947G>T (p.Val983Phe) c.2740G>T (p.Val914Phe) c.2899G>T (p.Val967Phe) c.2920G>T (p.Val974Phe) n.3047G>T c.2614G>T (p.Val872Phe) c.2872G>T (p.Val958Phe) c.2767G>T (p.Val923Phe) c.2713G>T (p.Val905Phe) c.2791G>T (p.Val931Phe) c.2542G>T (p.Val848Phe) c.2773G>T (p.Val925Phe) c.1699G>T (p.Val567Phe) n.2754G>T | |
1 | g.151406136C>G | CA341947736 | POGZ | c.2947G>C (p.Val983Leu) c.2740G>C (p.Val914Leu) c.2899G>C (p.Val967Leu) c.2920G>C (p.Val974Leu) n.3047G>C c.2614G>C (p.Val872Leu) c.2872G>C (p.Val958Leu) c.2767G>C (p.Val923Leu) c.2713G>C (p.Val905Leu) c.2791G>C (p.Val931Leu) c.2542G>C (p.Val848Leu) c.2773G>C (p.Val925Leu) c.1699G>C (p.Val567Leu) n.2754G>C | |
1 | g.151406136C>T | CA341947738 | POGZ | c.2947G>A (p.Val983Ile) c.2740G>A (p.Val914Ile) c.2899G>A (p.Val967Ile) c.2920G>A (p.Val974Ile) n.3047G>A c.2614G>A (p.Val872Ile) c.2872G>A (p.Val958Ile) c.2767G>A (p.Val923Ile) c.2713G>A (p.Val905Ile) c.2791G>A (p.Val931Ile) c.2542G>A (p.Val848Ile) c.2773G>A (p.Val925Ile) c.1699G>A (p.Val567Ile) n.2754G>A | |
1 | g.151406137T>A | CA420909975 | POGZ | c.2946A>T (p.Gly982=) c.2739A>T (p.Gly913=) c.2898A>T (p.Gly966=) c.2919A>T (p.Gly973=) n.3046A>T c.2613A>T (p.Gly871=) c.2871A>T (p.Gly957=) c.2766A>T (p.Gly922=) c.2712A>T (p.Gly904=) c.2790A>T (p.Gly930=) c.2541A>T (p.Gly847=) c.2772A>T (p.Gly924=) c.1698A>T (p.Gly566=) n.2753A>T | |
1 | g.151406137T>C | CA420909973 | POGZ | c.2946A>G (p.Gly982=) c.2739A>G (p.Gly913=) c.2898A>G (p.Gly966=) c.2919A>G (p.Gly973=) n.3046A>G c.2613A>G (p.Gly871=) c.2871A>G (p.Gly957=) c.2766A>G (p.Gly922=) c.2712A>G (p.Gly904=) c.2790A>G (p.Gly930=) c.2541A>G (p.Gly847=) c.2772A>G (p.Gly924=) c.1698A>G (p.Gly566=) n.2753A>G | dbSNP |
1 | g.151406137T>G | CA420909972 | POGZ | c.2946A>C (p.Gly982=) c.2739A>C (p.Gly913=) c.2898A>C (p.Gly966=) c.2919A>C (p.Gly973=) n.3046A>C c.2613A>C (p.Gly871=) c.2871A>C (p.Gly957=) c.2766A>C (p.Gly922=) c.2712A>C (p.Gly904=) c.2790A>C (p.Gly930=) c.2541A>C (p.Gly847=) c.2772A>C (p.Gly924=) c.1698A>C (p.Gly566=) n.2753A>C | gnomAD v4 |
1 | g.151406137_151406146delinsTCCACCACTA | CA2479570522 | POGZ | c.2937_2946delinsTAGTGGTGGA (p.Gly979=) c.2730_2739delinsTAGTGGTGGA (p.Gly910=) c.2889_2898delinsTAGTGGTGGA (p.Gly963=) c.2910_2919delinsTAGTGGTGGA (p.Gly970=) n.3037_3046delinsTAGTGGTGGA c.2604_2613delinsTAGTGGTGGA (p.Gly868=) c.2862_2871delinsTAGTGGTGGA (p.Gly954=) c.2757_2766delinsTAGTGGTGGA (p.Gly919=) c.2703_2712delinsTAGTGGTGGA (p.Gly901=) c.2781_2790delinsTAGTGGTGGA (p.Gly927=) c.2532_2541delinsTAGTGGTGGA (p.Gly844=) c.2763_2772delinsTAGTGGTGGA (p.Gly921=) c.1689_1698delinsTAGTGGTGGA (p.Gly563=) n.2744_2753delinsTAGTGGTGGA | |
1 | g.151406138C>A | CA341947746 | POGZ | c.2945G>T (p.Gly982Val) c.2738G>T (p.Gly913Val) c.2897G>T (p.Gly966Val) c.2918G>T (p.Gly973Val) n.3045G>T c.2612G>T (p.Gly871Val) c.2870G>T (p.Gly957Val) c.2765G>T (p.Gly922Val) c.2711G>T (p.Gly904Val) c.2789G>T (p.Gly930Val) c.2540G>T (p.Gly847Val) c.2771G>T (p.Gly924Val) c.1697G>T (p.Gly566Val) n.2752G>T | |
1 | g.151406138C= | CA2479570523 | POGZ | c.2945G= (p.Gly982=) c.2738G= (p.Gly913=) c.2897G= (p.Gly966=) c.2918G= (p.Gly973=) n.3045G= c.2612G= (p.Gly871=) c.2870G= (p.Gly957=) c.2765G= (p.Gly922=) c.2711G= (p.Gly904=) c.2789G= (p.Gly930=) c.2540G= (p.Gly847=) c.2771G= (p.Gly924=) c.1697G= (p.Gly566=) n.2752G= | |
1 | g.151406138C>G | CA341947748 | POGZ | c.2945G>C (p.Gly982Ala) c.2738G>C (p.Gly913Ala) c.2897G>C (p.Gly966Ala) c.2918G>C (p.Gly973Ala) n.3045G>C c.2612G>C (p.Gly871Ala) c.2870G>C (p.Gly957Ala) c.2765G>C (p.Gly922Ala) c.2711G>C (p.Gly904Ala) c.2789G>C (p.Gly930Ala) c.2540G>C (p.Gly847Ala) c.2771G>C (p.Gly924Ala) c.1697G>C (p.Gly566Ala) n.2752G>C | |
1 | g.151406138C>T | CA341947750 | POGZ | c.2945G>A (p.Gly982Glu) c.2738G>A (p.Gly913Glu) c.2897G>A (p.Gly966Glu) c.2918G>A (p.Gly973Glu) n.3045G>A c.2612G>A (p.Gly871Glu) c.2870G>A (p.Gly957Glu) c.2765G>A (p.Gly922Glu) c.2711G>A (p.Gly904Glu) c.2789G>A (p.Gly930Glu) c.2540G>A (p.Gly847Glu) c.2771G>A (p.Gly924Glu) c.1697G>A (p.Gly566Glu) n.2752G>A | dbSNP |
1 | g.151406145_151406153del | CA420909979 | POGZ | c.2937_2945del (p.Ser980_Gly982del) c.2730_2738del (p.Ser911_Gly913del) c.2889_2897del (p.Ser964_Gly966del) c.2910_2918del (p.Ser971_Gly973del) n.3037_3045del c.2604_2612del (p.Ser869_Gly871del) c.2862_2870del (p.Ser955_Gly957del) c.2757_2765del (p.Ser920_Gly922del) c.2703_2711del (p.Ser902_Gly904del) c.2781_2789del (p.Ser928_Gly930del) c.2532_2540del (p.Ser845_Gly847del) c.2763_2771del (p.Ser922_Gly924del) c.1689_1697del (p.Ser564_Gly566del) n.2744_2752del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.151406139C>A | CA341947754 | POGZ | c.2944G>T (p.Gly982Ter) c.2737G>T (p.Gly913Ter) c.2896G>T (p.Gly966Ter) c.2917G>T (p.Gly973Ter) n.3044G>T c.2611G>T (p.Gly871Ter) c.2869G>T (p.Gly957Ter) c.2764G>T (p.Gly922Ter) c.2710G>T (p.Gly904Ter) c.2788G>T (p.Gly930Ter) c.2539G>T (p.Gly847Ter) c.2770G>T (p.Gly924Ter) c.1696G>T (p.Gly566Ter) n.2751G>T | |
1 | g.151406139C>G | CA341947759 | POGZ | c.2944G>C (p.Gly982Arg) c.2737G>C (p.Gly913Arg) c.2896G>C (p.Gly966Arg) c.2917G>C (p.Gly973Arg) n.3044G>C c.2611G>C (p.Gly871Arg) c.2869G>C (p.Gly957Arg) c.2764G>C (p.Gly922Arg) c.2710G>C (p.Gly904Arg) c.2788G>C (p.Gly930Arg) c.2539G>C (p.Gly847Arg) c.2770G>C (p.Gly924Arg) c.1696G>C (p.Gly566Arg) n.2751G>C | |
1 | g.151406139C>T | CA341947756 | POGZ | c.2944G>A (p.Gly982Arg) c.2737G>A (p.Gly913Arg) c.2896G>A (p.Gly966Arg) c.2917G>A (p.Gly973Arg) n.3044G>A c.2611G>A (p.Gly871Arg) c.2869G>A (p.Gly957Arg) c.2764G>A (p.Gly922Arg) c.2710G>A (p.Gly904Arg) c.2788G>A (p.Gly930Arg) c.2539G>A (p.Gly847Arg) c.2770G>A (p.Gly924Arg) c.1696G>A (p.Gly566Arg) n.2751G>A | |
1 | g.151406140A>C | CA420909980 | POGZ | c.2943T>G (p.Gly981=) c.2736T>G (p.Gly912=) c.2895T>G (p.Gly965=) c.2916T>G (p.Gly972=) n.3043T>G c.2610T>G (p.Gly870=) c.2868T>G (p.Gly956=) c.2763T>G (p.Gly921=) c.2709T>G (p.Gly903=) c.2787T>G (p.Gly929=) c.2538T>G (p.Gly846=) c.2769T>G (p.Gly923=) c.1695T>G (p.Gly565=) n.2750T>G | |
1 | g.151406140A>G | CA420909981 | POGZ | c.2943T>C (p.Gly981=) c.2736T>C (p.Gly912=) c.2895T>C (p.Gly965=) c.2916T>C (p.Gly972=) n.3043T>C c.2610T>C (p.Gly870=) c.2868T>C (p.Gly956=) c.2763T>C (p.Gly921=) c.2709T>C (p.Gly903=) c.2787T>C (p.Gly929=) c.2538T>C (p.Gly846=) c.2769T>C (p.Gly923=) c.1695T>C (p.Gly565=) n.2750T>C | |
1 | g.151406140A>T | CA420909982 | POGZ | c.2943T>A (p.Gly981=) c.2736T>A (p.Gly912=) c.2895T>A (p.Gly965=) c.2916T>A (p.Gly972=) n.3043T>A c.2610T>A (p.Gly870=) c.2868T>A (p.Gly956=) c.2763T>A (p.Gly921=) c.2709T>A (p.Gly903=) c.2787T>A (p.Gly929=) c.2538T>A (p.Gly846=) c.2769T>A (p.Gly923=) c.1695T>A (p.Gly565=) n.2750T>A | |
1 | g.151406141C>A | CA341947763 | POGZ | c.2942G>T (p.Gly981Val) c.2735G>T (p.Gly912Val) c.2894G>T (p.Gly965Val) c.2915G>T (p.Gly972Val) n.3042G>T c.2609G>T (p.Gly870Val) c.2867G>T (p.Gly956Val) c.2762G>T (p.Gly921Val) c.2708G>T (p.Gly903Val) c.2786G>T (p.Gly929Val) c.2537G>T (p.Gly846Val) c.2768G>T (p.Gly923Val) c.1694G>T (p.Gly565Val) n.2749G>T | dbSNP |
1 | g.151406141C= | CA2479570524 | POGZ | c.2942G= (p.Gly981=) c.2735G= (p.Gly912=) c.2894G= (p.Gly965=) c.2915G= (p.Gly972=) n.3042G= c.2609G= (p.Gly870=) c.2867G= (p.Gly956=) c.2762G= (p.Gly921=) c.2708G= (p.Gly903=) c.2786G= (p.Gly929=) c.2537G= (p.Gly846=) c.2768G= (p.Gly923=) c.1694G= (p.Gly565=) n.2749G= | |
1 | g.151406141C>G | CA341947768 | POGZ | c.2942G>C (p.Gly981Ala) c.2735G>C (p.Gly912Ala) c.2894G>C (p.Gly965Ala) c.2915G>C (p.Gly972Ala) n.3042G>C c.2609G>C (p.Gly870Ala) c.2867G>C (p.Gly956Ala) c.2762G>C (p.Gly921Ala) c.2708G>C (p.Gly903Ala) c.2786G>C (p.Gly929Ala) c.2537G>C (p.Gly846Ala) c.2768G>C (p.Gly923Ala) c.1694G>C (p.Gly565Ala) n.2749G>C | |
1 | g.151406141C>T | CA341947771 | POGZ | c.2942G>A (p.Gly981Asp) c.2735G>A (p.Gly912Asp) c.2894G>A (p.Gly965Asp) c.2915G>A (p.Gly972Asp) n.3042G>A c.2609G>A (p.Gly870Asp) c.2867G>A (p.Gly956Asp) c.2762G>A (p.Gly921Asp) c.2708G>A (p.Gly903Asp) c.2786G>A (p.Gly929Asp) c.2537G>A (p.Gly846Asp) c.2768G>A (p.Gly923Asp) c.1694G>A (p.Gly565Asp) n.2749G>A | |
1 | g.151406142C>A | CA341947775 | POGZ | c.2941G>T (p.Gly981Cys) c.2734G>T (p.Gly912Cys) c.2893G>T (p.Gly965Cys) c.2914G>T (p.Gly972Cys) n.3041G>T c.2608G>T (p.Gly870Cys) c.2866G>T (p.Gly956Cys) c.2761G>T (p.Gly921Cys) c.2707G>T (p.Gly903Cys) c.2785G>T (p.Gly929Cys) c.2536G>T (p.Gly846Cys) c.2767G>T (p.Gly923Cys) c.1693G>T (p.Gly565Cys) n.2748G>T | |
1 | g.151406142C= | CA2479570525 | POGZ | c.2941G= (p.Gly981=) c.2734G= (p.Gly912=) c.2893G= (p.Gly965=) c.2914G= (p.Gly972=) n.3041G= c.2608G= (p.Gly870=) c.2866G= (p.Gly956=) c.2761G= (p.Gly921=) c.2707G= (p.Gly903=) c.2785G= (p.Gly929=) c.2536G= (p.Gly846=) c.2767G= (p.Gly923=) c.1693G= (p.Gly565=) n.2748G= | |
1 | g.151406142C>G | CA341947776 | POGZ | c.2941G>C (p.Gly981Arg) c.2734G>C (p.Gly912Arg) c.2893G>C (p.Gly965Arg) c.2914G>C (p.Gly972Arg) n.3041G>C c.2608G>C (p.Gly870Arg) c.2866G>C (p.Gly956Arg) c.2761G>C (p.Gly921Arg) c.2707G>C (p.Gly903Arg) c.2785G>C (p.Gly929Arg) c.2536G>C (p.Gly846Arg) c.2767G>C (p.Gly923Arg) c.1693G>C (p.Gly565Arg) n.2748G>C | |
1 | g.151406142C>T | CA29569235 | POGZ | c.2941G>A (p.Gly981Ser) c.2734G>A (p.Gly912Ser) c.2893G>A (p.Gly965Ser) c.2914G>A (p.Gly972Ser) n.3041G>A c.2608G>A (p.Gly870Ser) c.2866G>A (p.Gly956Ser) c.2761G>A (p.Gly921Ser) c.2707G>A (p.Gly903Ser) c.2785G>A (p.Gly929Ser) c.2536G>A (p.Gly846Ser) c.2767G>A (p.Gly923Ser) c.1693G>A (p.Gly565Ser) n.2748G>A | dbSNP gnomAD v3 gnomAD v4 |
1 | g.151406143A>C | CA341947782 | POGZ | c.2940T>G (p.Ser980Arg) c.2733T>G (p.Ser911Arg) c.2892T>G (p.Ser964Arg) c.2913T>G (p.Ser971Arg) n.3040T>G c.2607T>G (p.Ser869Arg) c.2865T>G (p.Ser955Arg) c.2760T>G (p.Ser920Arg) c.2706T>G (p.Ser902Arg) c.2784T>G (p.Ser928Arg) c.2535T>G (p.Ser845Arg) c.2766T>G (p.Ser922Arg) c.1692T>G (p.Ser564Arg) n.2747T>G | |
1 | g.151406143A>G | CA420909985 | POGZ | c.2940T>C (p.Ser980=) c.2733T>C (p.Ser911=) c.2892T>C (p.Ser964=) c.2913T>C (p.Ser971=) n.3040T>C c.2607T>C (p.Ser869=) c.2865T>C (p.Ser955=) c.2760T>C (p.Ser920=) c.2706T>C (p.Ser902=) c.2784T>C (p.Ser928=) c.2535T>C (p.Ser845=) c.2766T>C (p.Ser922=) c.1692T>C (p.Ser564=) n.2747T>C | |
1 | g.151406143A>T | CA341947785 | POGZ | c.2940T>A (p.Ser980Arg) c.2733T>A (p.Ser911Arg) c.2892T>A (p.Ser964Arg) c.2913T>A (p.Ser971Arg) n.3040T>A c.2607T>A (p.Ser869Arg) c.2865T>A (p.Ser955Arg) c.2760T>A (p.Ser920Arg) c.2706T>A (p.Ser902Arg) c.2784T>A (p.Ser928Arg) c.2535T>A (p.Ser845Arg) c.2766T>A (p.Ser922Arg) c.1692T>A (p.Ser564Arg) n.2747T>A | |
1 | g.151406144C>A | CA341947788 | POGZ | c.2939G>T (p.Ser980Ile) c.2732G>T (p.Ser911Ile) c.2891G>T (p.Ser964Ile) c.2912G>T (p.Ser971Ile) n.3039G>T c.2606G>T (p.Ser869Ile) c.2864G>T (p.Ser955Ile) c.2759G>T (p.Ser920Ile) c.2705G>T (p.Ser902Ile) c.2783G>T (p.Ser928Ile) c.2534G>T (p.Ser845Ile) c.2765G>T (p.Ser922Ile) c.1691G>T (p.Ser564Ile) n.2746G>T | |
1 | g.151406144C>G | CA341947789 | POGZ | c.2939G>C (p.Ser980Thr) c.2732G>C (p.Ser911Thr) c.2891G>C (p.Ser964Thr) c.2912G>C (p.Ser971Thr) n.3039G>C c.2606G>C (p.Ser869Thr) c.2864G>C (p.Ser955Thr) c.2759G>C (p.Ser920Thr) c.2705G>C (p.Ser902Thr) c.2783G>C (p.Ser928Thr) c.2534G>C (p.Ser845Thr) c.2765G>C (p.Ser922Thr) c.1691G>C (p.Ser564Thr) n.2746G>C | |
1 | g.151406144C>T | CA341947792 | POGZ | c.2939G>A (p.Ser980Asn) c.2732G>A (p.Ser911Asn) c.2891G>A (p.Ser964Asn) c.2912G>A (p.Ser971Asn) n.3039G>A c.2606G>A (p.Ser869Asn) c.2864G>A (p.Ser955Asn) c.2759G>A (p.Ser920Asn) c.2705G>A (p.Ser902Asn) c.2783G>A (p.Ser928Asn) c.2534G>A (p.Ser845Asn) c.2765G>A (p.Ser922Asn) c.1691G>A (p.Ser564Asn) n.2746G>A | |
1 | g.151406145T>A | CA341947796 | POGZ | c.2938A>T (p.Ser980Cys) c.2731A>T (p.Ser911Cys) c.2890A>T (p.Ser964Cys) c.2911A>T (p.Ser971Cys) n.3038A>T c.2605A>T (p.Ser869Cys) c.2863A>T (p.Ser955Cys) c.2758A>T (p.Ser920Cys) c.2704A>T (p.Ser902Cys) c.2782A>T (p.Ser928Cys) c.2533A>T (p.Ser845Cys) c.2764A>T (p.Ser922Cys) c.1690A>T (p.Ser564Cys) n.2745A>T | |
1 | g.151406145T>C | CA29569239 | POGZ | c.2938A>G (p.Ser980Gly) c.2731A>G (p.Ser911Gly) c.2890A>G (p.Ser964Gly) c.2911A>G (p.Ser971Gly) n.3038A>G c.2605A>G (p.Ser869Gly) c.2863A>G (p.Ser955Gly) c.2758A>G (p.Ser920Gly) c.2704A>G (p.Ser902Gly) c.2782A>G (p.Ser928Gly) c.2533A>G (p.Ser845Gly) c.2764A>G (p.Ser922Gly) c.1690A>G (p.Ser564Gly) n.2745A>G | dbSNP gnomAD v2 gnomAD v4 |
1 | g.151406145T>G | CA341947799 | POGZ | c.2938A>C (p.Ser980Arg) c.2731A>C (p.Ser911Arg) c.2890A>C (p.Ser964Arg) c.2911A>C (p.Ser971Arg) n.3038A>C c.2605A>C (p.Ser869Arg) c.2863A>C (p.Ser955Arg) c.2758A>C (p.Ser920Arg) c.2704A>C (p.Ser902Arg) c.2782A>C (p.Ser928Arg) c.2533A>C (p.Ser845Arg) c.2764A>C (p.Ser922Arg) c.1690A>C (p.Ser564Arg) n.2745A>C | |
1 | g.151406145T= | CA2479570526 | POGZ | c.2938A= (p.Ser980=) c.2731A= (p.Ser911=) c.2890A= (p.Ser964=) c.2911A= (p.Ser971=) n.3038A= c.2605A= (p.Ser869=) c.2863A= (p.Ser955=) c.2758A= (p.Ser920=) c.2704A= (p.Ser902=) c.2782A= (p.Ser928=) c.2533A= (p.Ser845=) c.2764A= (p.Ser922=) c.1690A= (p.Ser564=) n.2745A= | |
1 | g.151406145_151406154delinsTACCACCACC | CA2479570527 | POGZ | c.2929_2938delinsGGTGGTGGTA (p.Gly977=) c.2722_2731delinsGGTGGTGGTA (p.Gly908=) c.2881_2890delinsGGTGGTGGTA (p.Gly961=) c.2902_2911delinsGGTGGTGGTA (p.Gly968=) n.3029_3038delinsGGTGGTGGTA c.2596_2605delinsGGTGGTGGTA (p.Gly866=) c.2854_2863delinsGGTGGTGGTA (p.Gly952=) c.2749_2758delinsGGTGGTGGTA (p.Gly917=) c.2695_2704delinsGGTGGTGGTA (p.Gly899=) c.2773_2782delinsGGTGGTGGTA (p.Gly925=) c.2524_2533delinsGGTGGTGGTA (p.Gly842=) c.2755_2764delinsGGTGGTGGTA (p.Gly919=) c.1681_1690delinsGGTGGTGGTA (p.Gly561=) n.2736_2745delinsGGTGGTGGTA | |
1 | g.151406146A= | CA2479570528 | POGZ | c.2937T= (p.Gly979=) c.2730T= (p.Gly910=) c.2889T= (p.Gly963=) c.2910T= (p.Gly970=) n.3037T= c.2604T= (p.Gly868=) c.2862T= (p.Gly954=) c.2757T= (p.Gly919=) c.2703T= (p.Gly901=) c.2781T= (p.Gly927=) c.2532T= (p.Gly844=) c.2763T= (p.Gly921=) c.1689T= (p.Gly563=) n.2744T= | |
1 | g.151406146A>C | CA420909987 | POGZ | c.2937T>G (p.Gly979=) c.2730T>G (p.Gly910=) c.2889T>G (p.Gly963=) c.2910T>G (p.Gly970=) n.3037T>G c.2604T>G (p.Gly868=) c.2862T>G (p.Gly954=) c.2757T>G (p.Gly919=) c.2703T>G (p.Gly901=) c.2781T>G (p.Gly927=) c.2532T>G (p.Gly844=) c.2763T>G (p.Gly921=) c.1689T>G (p.Gly563=) n.2744T>G | |
1 | g.151406146A>G | CA420909988 | POGZ | c.2937T>C (p.Gly979=) c.2730T>C (p.Gly910=) c.2889T>C (p.Gly963=) c.2910T>C (p.Gly970=) n.3037T>C c.2604T>C (p.Gly868=) c.2862T>C (p.Gly954=) c.2757T>C (p.Gly919=) c.2703T>C (p.Gly901=) c.2781T>C (p.Gly927=) c.2532T>C (p.Gly844=) c.2763T>C (p.Gly921=) c.1689T>C (p.Gly563=) n.2744T>C | dbSNP gnomAD v4 |
1 | g.151406146A>T | CA420909989 | POGZ | c.2937T>A (p.Gly979=) c.2730T>A (p.Gly910=) c.2889T>A (p.Gly963=) c.2910T>A (p.Gly970=) n.3037T>A c.2604T>A (p.Gly868=) c.2862T>A (p.Gly954=) c.2757T>A (p.Gly919=) c.2703T>A (p.Gly901=) c.2781T>A (p.Gly927=) c.2532T>A (p.Gly844=) c.2763T>A (p.Gly921=) c.1689T>A (p.Gly563=) n.2744T>A | |
1 | g.151406155_151406157dup | CA916309723 | POGZ | c.2935_2937dup (p.Gly979_Ser980insGly) c.2728_2730dup (p.Gly910_Ser911insGly) c.2887_2889dup (p.Gly963_Ser964insGly) c.2908_2910dup (p.Gly970_Ser971insGly) n.3035_3037dup c.2602_2604dup (p.Gly868_Ser869insGly) c.2860_2862dup (p.Gly954_Ser955insGly) c.2755_2757dup (p.Gly919_Ser920insGly) c.2701_2703dup (p.Gly901_Ser902insGly) c.2779_2781dup (p.Gly927_Ser928insGly) c.2530_2532dup (p.Gly844_Ser845insGly) c.2761_2763dup (p.Gly921_Ser922insGly) c.1687_1689dup (p.Gly563_Ser564insGly) n.2742_2744dup | dbSNP gnomAD v4 |
1 | g.151406152_151406157dup | CA2647920374 | POGZ | c.2932_2937dup (p.Gly979_Ser980insGlyGly) c.2725_2730dup (p.Gly910_Ser911insGlyGly) c.2884_2889dup (p.Gly963_Ser964insGlyGly) c.2905_2910dup (p.Gly970_Ser971insGlyGly) n.3032_3037dup c.2599_2604dup (p.Gly868_Ser869insGlyGly) c.2857_2862dup (p.Gly954_Ser955insGlyGly) c.2752_2757dup (p.Gly919_Ser920insGlyGly) c.2698_2703dup (p.Gly901_Ser902insGlyGly) c.2776_2781dup (p.Gly927_Ser928insGlyGly) c.2527_2532dup (p.Gly844_Ser845insGlyGly) c.2758_2763dup (p.Gly921_Ser922insGlyGly) c.1684_1689dup (p.Gly563_Ser564insGlyGly) n.2739_2744dup | gnomAD v4 |
1 | g.151406155_151406157del | CA2574056014 | POGZ | c.2935_2937del (p.Gly979del) c.2728_2730del (p.Gly910del) c.2887_2889del (p.Gly963del) c.2908_2910del (p.Gly970del) n.3035_3037del c.2602_2604del (p.Gly868del) c.2860_2862del (p.Gly954del) c.2755_2757del (p.Gly919del) c.2701_2703del (p.Gly901del) c.2779_2781del (p.Gly927del) c.2530_2532del (p.Gly844del) c.2761_2763del (p.Gly921del) c.1687_1689del (p.Gly563del) n.2742_2744del | gnomAD v4 |
1 | g.151406149_151406157del | CA526660631 | POGZ | c.2929_2937del (p.Gly977_Gly979del) c.2722_2730del (p.Gly908_Gly910del) c.2881_2889del (p.Gly961_Gly963del) c.2902_2910del (p.Gly968_Gly970del) n.3029_3037del c.2596_2604del (p.Gly866_Gly868del) c.2854_2862del (p.Gly952_Gly954del) c.2749_2757del (p.Gly917_Gly919del) c.2695_2703del (p.Gly899_Gly901del) c.2773_2781del (p.Gly925_Gly927del) c.2524_2532del (p.Gly842_Gly844del) c.2755_2763del (p.Gly919_Gly921del) c.1681_1689del (p.Gly561_Gly563del) n.2736_2744del | dbSNP gnomAD v2 gnomAD v4 |
1 | g.151406147C>A | CA1091039 | POGZ | c.2936G>T (p.Gly979Val) c.2729G>T (p.Gly910Val) c.2888G>T (p.Gly963Val) c.2909G>T (p.Gly970Val) n.3036G>T c.2603G>T (p.Gly868Val) c.2861G>T (p.Gly954Val) c.2756G>T (p.Gly919Val) c.2702G>T (p.Gly901Val) c.2780G>T (p.Gly927Val) c.2531G>T (p.Gly844Val) c.2762G>T (p.Gly921Val) c.1688G>T (p.Gly563Val) n.2743G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.151406147C= | CA2479570529 | POGZ | c.2936G= (p.Gly979=) c.2729G= (p.Gly910=) c.2888G= (p.Gly963=) c.2909G= (p.Gly970=) n.3036G= c.2603G= (p.Gly868=) c.2861G= (p.Gly954=) c.2756G= (p.Gly919=) c.2702G= (p.Gly901=) c.2780G= (p.Gly927=) c.2531G= (p.Gly844=) c.2762G= (p.Gly921=) c.1688G= (p.Gly563=) n.2743G= | |
1 | g.151406147C>G | CA341947803 | POGZ | c.2936G>C (p.Gly979Ala) c.2729G>C (p.Gly910Ala) c.2888G>C (p.Gly963Ala) c.2909G>C (p.Gly970Ala) n.3036G>C c.2603G>C (p.Gly868Ala) c.2861G>C (p.Gly954Ala) c.2756G>C (p.Gly919Ala) c.2702G>C (p.Gly901Ala) c.2780G>C (p.Gly927Ala) c.2531G>C (p.Gly844Ala) c.2762G>C (p.Gly921Ala) c.1688G>C (p.Gly563Ala) n.2743G>C | |
1 | g.151406147C>T | CA341947806 | POGZ | c.2936G>A (p.Gly979Asp) c.2729G>A (p.Gly910Asp) c.2888G>A (p.Gly963Asp) c.2909G>A (p.Gly970Asp) n.3036G>A c.2603G>A (p.Gly868Asp) c.2861G>A (p.Gly954Asp) c.2756G>A (p.Gly919Asp) c.2702G>A (p.Gly901Asp) c.2780G>A (p.Gly927Asp) c.2531G>A (p.Gly844Asp) c.2762G>A (p.Gly921Asp) c.1688G>A (p.Gly563Asp) n.2743G>A | dbSNP gnomAD v4 |
1 | g.151406148C>A | CA341947829 | POGZ | c.2935G>T (p.Gly979Cys) c.2728G>T (p.Gly910Cys) c.2887G>T (p.Gly963Cys) c.2908G>T (p.Gly970Cys) n.3035G>T c.2602G>T (p.Gly868Cys) c.2860G>T (p.Gly954Cys) c.2755G>T (p.Gly919Cys) c.2701G>T (p.Gly901Cys) c.2779G>T (p.Gly927Cys) c.2530G>T (p.Gly844Cys) c.2761G>T (p.Gly921Cys) c.1687G>T (p.Gly563Cys) n.2742G>T | COSMIC COSMIC |
1 | g.151406148C>G | CA341947831 | POGZ | c.2935G>C (p.Gly979Arg) c.2728G>C (p.Gly910Arg) c.2887G>C (p.Gly963Arg) c.2908G>C (p.Gly970Arg) n.3035G>C c.2602G>C (p.Gly868Arg) c.2860G>C (p.Gly954Arg) c.2755G>C (p.Gly919Arg) c.2701G>C (p.Gly901Arg) c.2779G>C (p.Gly927Arg) c.2530G>C (p.Gly844Arg) c.2761G>C (p.Gly921Arg) c.1687G>C (p.Gly563Arg) n.2742G>C | gnomAD v4 |
1 | g.151406148C>T | CA341947835 | POGZ | c.2935G>A (p.Gly979Ser) c.2728G>A (p.Gly910Ser) c.2887G>A (p.Gly963Ser) c.2908G>A (p.Gly970Ser) n.3035G>A c.2602G>A (p.Gly868Ser) c.2860G>A (p.Gly954Ser) c.2755G>A (p.Gly919Ser) c.2701G>A (p.Gly901Ser) c.2779G>A (p.Gly927Ser) c.2530G>A (p.Gly844Ser) c.2761G>A (p.Gly921Ser) c.1687G>A (p.Gly563Ser) n.2742G>A | gnomAD v4 |
1 | g.151406149A>C | CA420909991 | POGZ | c.2934T>G (p.Gly978=) c.2727T>G (p.Gly909=) c.2886T>G (p.Gly962=) c.2907T>G (p.Gly969=) n.3034T>G c.2601T>G (p.Gly867=) c.2859T>G (p.Gly953=) c.2754T>G (p.Gly918=) c.2700T>G (p.Gly900=) c.2778T>G (p.Gly926=) c.2529T>G (p.Gly843=) c.2760T>G (p.Gly920=) c.1686T>G (p.Gly562=) n.2741T>G | gnomAD v4 |
1 | g.151406149A>G | CA420909992 | POGZ | c.2934T>C (p.Gly978=) c.2727T>C (p.Gly909=) c.2886T>C (p.Gly962=) c.2907T>C (p.Gly969=) n.3034T>C c.2601T>C (p.Gly867=) c.2859T>C (p.Gly953=) c.2754T>C (p.Gly918=) c.2700T>C (p.Gly900=) c.2778T>C (p.Gly926=) c.2529T>C (p.Gly843=) c.2760T>C (p.Gly920=) c.1686T>C (p.Gly562=) n.2741T>C | gnomAD v4 |
1 | g.151406149A>T | CA420909993 | POGZ | c.2934T>A (p.Gly978=) c.2727T>A (p.Gly909=) c.2886T>A (p.Gly962=) c.2907T>A (p.Gly969=) n.3034T>A c.2601T>A (p.Gly867=) c.2859T>A (p.Gly953=) c.2754T>A (p.Gly918=) c.2700T>A (p.Gly900=) c.2778T>A (p.Gly926=) c.2529T>A (p.Gly843=) c.2760T>A (p.Gly920=) c.1686T>A (p.Gly562=) n.2741T>A | |
1 | g.151406150C>A | CA341947841 | POGZ | c.2933G>T (p.Gly978Val) c.2726G>T (p.Gly909Val) c.2885G>T (p.Gly962Val) c.2906G>T (p.Gly969Val) n.3033G>T c.2600G>T (p.Gly867Val) c.2858G>T (p.Gly953Val) c.2753G>T (p.Gly918Val) c.2699G>T (p.Gly900Val) c.2777G>T (p.Gly926Val) c.2528G>T (p.Gly843Val) c.2759G>T (p.Gly920Val) c.1685G>T (p.Gly562Val) n.2740G>T | |
1 | g.151406150C>G | CA341947843 | POGZ | c.2933G>C (p.Gly978Ala) c.2726G>C (p.Gly909Ala) c.2885G>C (p.Gly962Ala) c.2906G>C (p.Gly969Ala) n.3033G>C c.2600G>C (p.Gly867Ala) c.2858G>C (p.Gly953Ala) c.2753G>C (p.Gly918Ala) c.2699G>C (p.Gly900Ala) c.2777G>C (p.Gly926Ala) c.2528G>C (p.Gly843Ala) c.2759G>C (p.Gly920Ala) c.1685G>C (p.Gly562Ala) n.2740G>C | |
1 | g.151406150C>T | CA341947844 | POGZ | c.2933G>A (p.Gly978Asp) c.2726G>A (p.Gly909Asp) c.2885G>A (p.Gly962Asp) c.2906G>A (p.Gly969Asp) n.3033G>A c.2600G>A (p.Gly867Asp) c.2858G>A (p.Gly953Asp) c.2753G>A (p.Gly918Asp) c.2699G>A (p.Gly900Asp) c.2777G>A (p.Gly926Asp) c.2528G>A (p.Gly843Asp) c.2759G>A (p.Gly920Asp) c.1685G>A (p.Gly562Asp) n.2740G>A | |
1 | g.151406151C>A | CA341947849 | POGZ | c.2932G>T (p.Gly978Cys) c.2725G>T (p.Gly909Cys) c.2884G>T (p.Gly962Cys) c.2905G>T (p.Gly969Cys) n.3032G>T c.2599G>T (p.Gly867Cys) c.2857G>T (p.Gly953Cys) c.2752G>T (p.Gly918Cys) c.2698G>T (p.Gly900Cys) c.2776G>T (p.Gly926Cys) c.2527G>T (p.Gly843Cys) c.2758G>T (p.Gly920Cys) c.1684G>T (p.Gly562Cys) n.2739G>T | |
1 | g.151406151C= | CA2479570530 | POGZ | c.2932G= (p.Gly978=) c.2725G= (p.Gly909=) c.2884G= (p.Gly962=) c.2905G= (p.Gly969=) n.3032G= c.2599G= (p.Gly867=) c.2857G= (p.Gly953=) c.2752G= (p.Gly918=) c.2698G= (p.Gly900=) c.2776G= (p.Gly926=) c.2527G= (p.Gly843=) c.2758G= (p.Gly920=) c.1684G= (p.Gly562=) n.2739G= | |
1 | g.151406151C>G | CA341947851 | POGZ | c.2932G>C (p.Gly978Arg) c.2725G>C (p.Gly909Arg) c.2884G>C (p.Gly962Arg) c.2905G>C (p.Gly969Arg) n.3032G>C c.2599G>C (p.Gly867Arg) c.2857G>C (p.Gly953Arg) c.2752G>C (p.Gly918Arg) c.2698G>C (p.Gly900Arg) c.2776G>C (p.Gly926Arg) c.2527G>C (p.Gly843Arg) c.2758G>C (p.Gly920Arg) c.1684G>C (p.Gly562Arg) n.2739G>C | |
1 | g.151406151C>T | CA341947855 | POGZ | c.2932G>A (p.Gly978Ser) c.2725G>A (p.Gly909Ser) c.2884G>A (p.Gly962Ser) c.2905G>A (p.Gly969Ser) n.3032G>A c.2599G>A (p.Gly867Ser) c.2857G>A (p.Gly953Ser) c.2752G>A (p.Gly918Ser) c.2698G>A (p.Gly900Ser) c.2776G>A (p.Gly926Ser) c.2527G>A (p.Gly843Ser) c.2758G>A (p.Gly920Ser) c.1684G>A (p.Gly562Ser) n.2739G>A | gnomAD v4 |
1 | g.151406152A>C | CA420909996 | POGZ | c.2931T>G (p.Gly977=) c.2724T>G (p.Gly908=) c.2883T>G (p.Gly961=) c.2904T>G (p.Gly968=) n.3031T>G c.2598T>G (p.Gly866=) c.2856T>G (p.Gly952=) c.2751T>G (p.Gly917=) c.2697T>G (p.Gly899=) c.2775T>G (p.Gly925=) c.2526T>G (p.Gly842=) c.2757T>G (p.Gly919=) c.1683T>G (p.Gly561=) n.2738T>G | |
1 | g.151406152A>G | CA420909998 | POGZ | c.2931T>C (p.Gly977=) c.2724T>C (p.Gly908=) c.2883T>C (p.Gly961=) c.2904T>C (p.Gly968=) n.3031T>C c.2598T>C (p.Gly866=) c.2856T>C (p.Gly952=) c.2751T>C (p.Gly917=) c.2697T>C (p.Gly899=) c.2775T>C (p.Gly925=) c.2526T>C (p.Gly842=) c.2757T>C (p.Gly919=) c.1683T>C (p.Gly561=) n.2738T>C | |
1 | g.151406152A>T | CA420909997 | POGZ | c.2931T>A (p.Gly977=) c.2724T>A (p.Gly908=) c.2883T>A (p.Gly961=) c.2904T>A (p.Gly968=) n.3031T>A c.2598T>A (p.Gly866=) c.2856T>A (p.Gly952=) c.2751T>A (p.Gly917=) c.2697T>A (p.Gly899=) c.2775T>A (p.Gly925=) c.2526T>A (p.Gly842=) c.2757T>A (p.Gly919=) c.1683T>A (p.Gly561=) n.2738T>A | |
1 | g.151406152dup | CA658795513 | POGZ | c.2931dup (p.Gly978TrpfsTer3) c.2724dup (p.Gly909TrpfsTer3) c.2883dup (p.Gly962TrpfsTer3) c.2904dup (p.Gly969TrpfsTer3) n.3031dup c.2598dup (p.Gly867TrpfsTer3) c.2856dup (p.Gly953TrpfsTer3) c.2751dup (p.Gly918TrpfsTer3) c.2697dup (p.Gly900TrpfsTer3) c.2775dup (p.Gly926TrpfsTer3) c.2526dup (p.Gly843TrpfsTer3) c.2757dup (p.Gly920TrpfsTer3) c.1683dup (p.Gly562TrpfsTer3) n.2738dup | ClinVar dbSNP |
1 | g.151406153C>A | CA1091040 | POGZ | c.2930G>T (p.Gly977Val) c.2723G>T (p.Gly908Val) c.2882G>T (p.Gly961Val) c.2903G>T (p.Gly968Val) n.3030G>T c.2597G>T (p.Gly866Val) c.2855G>T (p.Gly952Val) c.2750G>T (p.Gly917Val) c.2696G>T (p.Gly899Val) c.2774G>T (p.Gly925Val) c.2525G>T (p.Gly842Val) c.2756G>T (p.Gly919Val) c.1682G>T (p.Gly561Val) n.2737G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.151406153C= | CA1148295195 | POGZ | c.2930G= (p.Gly977=) c.2723G= (p.Gly908=) c.2882G= (p.Gly961=) c.2903G= (p.Gly968=) n.3030G= c.2597G= (p.Gly866=) c.2855G= (p.Gly952=) c.2750G= (p.Gly917=) c.2696G= (p.Gly899=) c.2774G= (p.Gly925=) c.2525G= (p.Gly842=) c.2756G= (p.Gly919=) c.1682G= (p.Gly561=) n.2737G= | |
1 | g.151406153C>G | CA341947864 | POGZ | c.2930G>C (p.Gly977Ala) c.2723G>C (p.Gly908Ala) c.2882G>C (p.Gly961Ala) c.2903G>C (p.Gly968Ala) n.3030G>C c.2597G>C (p.Gly866Ala) c.2855G>C (p.Gly952Ala) c.2750G>C (p.Gly917Ala) c.2696G>C (p.Gly899Ala) c.2774G>C (p.Gly925Ala) c.2525G>C (p.Gly842Ala) c.2756G>C (p.Gly919Ala) c.1682G>C (p.Gly561Ala) n.2737G>C | dbSNP gnomAD v4 |
1 | g.151406153C>T | CA1091041 | POGZ | c.2930G>A (p.Gly977Asp) c.2723G>A (p.Gly908Asp) c.2882G>A (p.Gly961Asp) c.2903G>A (p.Gly968Asp) n.3030G>A c.2597G>A (p.Gly866Asp) c.2855G>A (p.Gly952Asp) c.2750G>A (p.Gly917Asp) c.2696G>A (p.Gly899Asp) c.2774G>A (p.Gly925Asp) c.2525G>A (p.Gly842Asp) c.2756G>A (p.Gly919Asp) c.1682G>A (p.Gly561Asp) n.2737G>A | dbSNP ExAC gnomAD v2 |
1 | g.151406154C>A | CA341947879 | POGZ | c.2929G>T (p.Gly977Cys) c.2722G>T (p.Gly908Cys) c.2881G>T (p.Gly961Cys) c.2902G>T (p.Gly968Cys) n.3029G>T c.2596G>T (p.Gly866Cys) c.2854G>T (p.Gly952Cys) c.2749G>T (p.Gly917Cys) c.2695G>T (p.Gly899Cys) c.2773G>T (p.Gly925Cys) c.2524G>T (p.Gly842Cys) c.2755G>T (p.Gly919Cys) c.1681G>T (p.Gly561Cys) n.2736G>T | |
1 | g.151406154C= | CA2479570531 | POGZ | c.2929G= (p.Gly977=) c.2722G= (p.Gly908=) c.2881G= (p.Gly961=) c.2902G= (p.Gly968=) n.3029G= c.2596G= (p.Gly866=) c.2854G= (p.Gly952=) c.2749G= (p.Gly917=) c.2695G= (p.Gly899=) c.2773G= (p.Gly925=) c.2524G= (p.Gly842=) c.2755G= (p.Gly919=) c.1681G= (p.Gly561=) n.2736G= | |
1 | g.151406154C>G | CA341947886 | POGZ | c.2929G>C (p.Gly977Arg) c.2722G>C (p.Gly908Arg) c.2881G>C (p.Gly961Arg) c.2902G>C (p.Gly968Arg) n.3029G>C c.2596G>C (p.Gly866Arg) c.2854G>C (p.Gly952Arg) c.2749G>C (p.Gly917Arg) c.2695G>C (p.Gly899Arg) c.2773G>C (p.Gly925Arg) c.2524G>C (p.Gly842Arg) c.2755G>C (p.Gly919Arg) c.1681G>C (p.Gly561Arg) n.2736G>C | |
1 | g.151406154C>T | CA341947889 | POGZ | c.2929G>A (p.Gly977Ser) c.2722G>A (p.Gly908Ser) c.2881G>A (p.Gly961Ser) c.2902G>A (p.Gly968Ser) n.3029G>A c.2596G>A (p.Gly866Ser) c.2854G>A (p.Gly952Ser) c.2749G>A (p.Gly917Ser) c.2695G>A (p.Gly899Ser) c.2773G>A (p.Gly925Ser) c.2524G>A (p.Gly842Ser) c.2755G>A (p.Gly919Ser) c.1681G>A (p.Gly561Ser) n.2736G>A | dbSNP gnomAD v2 gnomAD v4 |
1 | g.151406155A>C | CA420910001 | POGZ | c.2928T>G (p.Gly976=) c.2721T>G (p.Gly907=) c.2880T>G (p.Gly960=) c.2901T>G (p.Gly967=) n.3028T>G c.2595T>G (p.Gly865=) c.2853T>G (p.Gly951=) c.2748T>G (p.Gly916=) c.2694T>G (p.Gly898=) c.2772T>G (p.Gly924=) c.2523T>G (p.Gly841=) c.2754T>G (p.Gly918=) c.1680T>G (p.Gly560=) n.2735T>G | |
1 | g.151406155A>G | CA420910002 | POGZ | c.2928T>C (p.Gly976=) c.2721T>C (p.Gly907=) c.2880T>C (p.Gly960=) c.2901T>C (p.Gly967=) n.3028T>C c.2595T>C (p.Gly865=) c.2853T>C (p.Gly951=) c.2748T>C (p.Gly916=) c.2694T>C (p.Gly898=) c.2772T>C (p.Gly924=) c.2523T>C (p.Gly841=) c.2754T>C (p.Gly918=) c.1680T>C (p.Gly560=) n.2735T>C | |
1 | g.151406155A>T | CA420910003 | POGZ | c.2928T>A (p.Gly976=) c.2721T>A (p.Gly907=) c.2880T>A (p.Gly960=) c.2901T>A (p.Gly967=) n.3028T>A c.2595T>A (p.Gly865=) c.2853T>A (p.Gly951=) c.2748T>A (p.Gly916=) c.2694T>A (p.Gly898=) c.2772T>A (p.Gly924=) c.2523T>A (p.Gly841=) c.2754T>A (p.Gly918=) c.1680T>A (p.Gly560=) n.2735T>A | |
1 | g.151406156C>A | CA341947890 | POGZ | c.2927G>T (p.Gly976Val) c.2720G>T (p.Gly907Val) c.2879G>T (p.Gly960Val) c.2900G>T (p.Gly967Val) n.3027G>T c.2594G>T (p.Gly865Val) c.2852G>T (p.Gly951Val) c.2747G>T (p.Gly916Val) c.2693G>T (p.Gly898Val) c.2771G>T (p.Gly924Val) c.2522G>T (p.Gly841Val) c.2753G>T (p.Gly918Val) c.1679G>T (p.Gly560Val) n.2734G>T | |
1 | g.151406156C= | CA2479570532 | POGZ | c.2927G= (p.Gly976=) c.2720G= (p.Gly907=) c.2879G= (p.Gly960=) c.2900G= (p.Gly967=) n.3027G= c.2594G= (p.Gly865=) c.2852G= (p.Gly951=) c.2747G= (p.Gly916=) c.2693G= (p.Gly898=) c.2771G= (p.Gly924=) c.2522G= (p.Gly841=) c.2753G= (p.Gly918=) c.1679G= (p.Gly560=) n.2734G= | |
1 | g.151406156C>G | CA341947891 | POGZ | c.2927G>C (p.Gly976Ala) c.2720G>C (p.Gly907Ala) c.2879G>C (p.Gly960Ala) c.2900G>C (p.Gly967Ala) n.3027G>C c.2594G>C (p.Gly865Ala) c.2852G>C (p.Gly951Ala) c.2747G>C (p.Gly916Ala) c.2693G>C (p.Gly898Ala) c.2771G>C (p.Gly924Ala) c.2522G>C (p.Gly841Ala) c.2753G>C (p.Gly918Ala) c.1679G>C (p.Gly560Ala) n.2734G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.151406156C>T | CA341947892 | POGZ | c.2927G>A (p.Gly976Asp) c.2720G>A (p.Gly907Asp) c.2879G>A (p.Gly960Asp) c.2900G>A (p.Gly967Asp) n.3027G>A c.2594G>A (p.Gly865Asp) c.2852G>A (p.Gly951Asp) c.2747G>A (p.Gly916Asp) c.2693G>A (p.Gly898Asp) c.2771G>A (p.Gly924Asp) c.2522G>A (p.Gly841Asp) c.2753G>A (p.Gly918Asp) c.1679G>A (p.Gly560Asp) n.2734G>A | gnomAD v4 |
1 | g.151406157C>A | CA341947895 | POGZ | c.2926G>T (p.Gly976Cys) c.2719G>T (p.Gly907Cys) c.2878G>T (p.Gly960Cys) c.2899G>T (p.Gly967Cys) n.3026G>T c.2593G>T (p.Gly865Cys) c.2851G>T (p.Gly951Cys) c.2746G>T (p.Gly916Cys) c.2692G>T (p.Gly898Cys) c.2770G>T (p.Gly924Cys) c.2521G>T (p.Gly841Cys) c.2752G>T (p.Gly918Cys) c.1678G>T (p.Gly560Cys) n.2733G>T | dbSNP gnomAD v2 gnomAD v4 |
1 | g.151406157C= | CA2479570533 | POGZ | c.2926G= (p.Gly976=) c.2719G= (p.Gly907=) c.2878G= (p.Gly960=) c.2899G= (p.Gly967=) n.3026G= c.2593G= (p.Gly865=) c.2851G= (p.Gly951=) c.2746G= (p.Gly916=) c.2692G= (p.Gly898=) c.2770G= (p.Gly924=) c.2521G= (p.Gly841=) c.2752G= (p.Gly918=) c.1678G= (p.Gly560=) n.2733G= | |
1 | g.151406157C>G | CA341947898 | POGZ | c.2926G>C (p.Gly976Arg) c.2719G>C (p.Gly907Arg) c.2878G>C (p.Gly960Arg) c.2899G>C (p.Gly967Arg) n.3026G>C c.2593G>C (p.Gly865Arg) c.2851G>C (p.Gly951Arg) c.2746G>C (p.Gly916Arg) c.2692G>C (p.Gly898Arg) c.2770G>C (p.Gly924Arg) c.2521G>C (p.Gly841Arg) c.2752G>C (p.Gly918Arg) c.1678G>C (p.Gly560Arg) n.2733G>C | |
1 | g.151406157C>T | CA341947905 | POGZ | c.2926G>A (p.Gly976Ser) c.2719G>A (p.Gly907Ser) c.2878G>A (p.Gly960Ser) c.2899G>A (p.Gly967Ser) n.3026G>A c.2593G>A (p.Gly865Ser) c.2851G>A (p.Gly951Ser) c.2746G>A (p.Gly916Ser) c.2692G>A (p.Gly898Ser) c.2770G>A (p.Gly924Ser) c.2521G>A (p.Gly841Ser) c.2752G>A (p.Gly918Ser) c.1678G>A (p.Gly560Ser) n.2733G>A | |
1 | g.151406158T>A | CA420910007 | POGZ | c.2925A>T (p.Ser975=) c.2718A>T (p.Ser906=) c.2877A>T (p.Ser959=) c.2898A>T (p.Ser966=) n.3025A>T c.2592A>T (p.Ser864=) c.2850A>T (p.Ser950=) c.2745A>T (p.Ser915=) c.2691A>T (p.Ser897=) c.2769A>T (p.Ser923=) c.2520A>T (p.Ser840=) c.2751A>T (p.Ser917=) c.1677A>T (p.Ser559=) n.2732A>T | |
1 | g.151406158T>C | CA420910008 | POGZ | c.2925A>G (p.Ser975=) c.2718A>G (p.Ser906=) c.2877A>G (p.Ser959=) c.2898A>G (p.Ser966=) n.3025A>G c.2592A>G (p.Ser864=) c.2850A>G (p.Ser950=) c.2745A>G (p.Ser915=) c.2691A>G (p.Ser897=) c.2769A>G (p.Ser923=) c.2520A>G (p.Ser840=) c.2751A>G (p.Ser917=) c.1677A>G (p.Ser559=) n.2732A>G | gnomAD v4 |
1 | g.151406158T>G | CA420910009 | POGZ | c.2925A>C (p.Ser975=) c.2718A>C (p.Ser906=) c.2877A>C (p.Ser959=) c.2898A>C (p.Ser966=) n.3025A>C c.2592A>C (p.Ser864=) c.2850A>C (p.Ser950=) c.2745A>C (p.Ser915=) c.2691A>C (p.Ser897=) c.2769A>C (p.Ser923=) c.2520A>C (p.Ser840=) c.2751A>C (p.Ser917=) c.1677A>C (p.Ser559=) n.2732A>C | |
1 | g.151406159G>A | CA341947909 | POGZ | c.2924C>T (p.Ser975Leu) c.2717C>T (p.Ser906Leu) c.2876C>T (p.Ser959Leu) c.2897C>T (p.Ser966Leu) n.3024C>T c.2591C>T (p.Ser864Leu) c.2849C>T (p.Ser950Leu) c.2744C>T (p.Ser915Leu) c.2690C>T (p.Ser897Leu) c.2768C>T (p.Ser923Leu) c.2519C>T (p.Ser840Leu) c.2750C>T (p.Ser917Leu) c.1676C>T (p.Ser559Leu) n.2731C>T | dbSNP gnomAD v4 |
1 | g.151406159G>C | CA341947914 | POGZ | c.2924C>G (p.Ser975Ter) c.2717C>G (p.Ser906Ter) c.2876C>G (p.Ser959Ter) c.2897C>G (p.Ser966Ter) n.3024C>G c.2591C>G (p.Ser864Ter) c.2849C>G (p.Ser950Ter) c.2744C>G (p.Ser915Ter) c.2690C>G (p.Ser897Ter) c.2768C>G (p.Ser923Ter) c.2519C>G (p.Ser840Ter) c.2750C>G (p.Ser917Ter) c.1676C>G (p.Ser559Ter) n.2731C>G | |
1 | g.151406159G= | CA2479570534 | POGZ | c.2924C= (p.Ser975=) c.2717C= (p.Ser906=) c.2876C= (p.Ser959=) c.2897C= (p.Ser966=) n.3024C= c.2591C= (p.Ser864=) c.2849C= (p.Ser950=) c.2744C= (p.Ser915=) c.2690C= (p.Ser897=) c.2768C= (p.Ser923=) c.2519C= (p.Ser840=) c.2750C= (p.Ser917=) c.1676C= (p.Ser559=) n.2731C= | |
1 | g.151406159G>T | CA341947917 | POGZ | c.2924C>A (p.Ser975Ter) c.2717C>A (p.Ser906Ter) c.2876C>A (p.Ser959Ter) c.2897C>A (p.Ser966Ter) n.3024C>A c.2591C>A (p.Ser864Ter) c.2849C>A (p.Ser950Ter) c.2744C>A (p.Ser915Ter) c.2690C>A (p.Ser897Ter) c.2768C>A (p.Ser923Ter) c.2519C>A (p.Ser840Ter) c.2750C>A (p.Ser917Ter) c.1676C>A (p.Ser559Ter) n.2731C>A | |
1 | g.151406160A>C | CA341947932 | POGZ | c.2923T>G (p.Ser975Ala) c.2716T>G (p.Ser906Ala) c.2875T>G (p.Ser959Ala) c.2896T>G (p.Ser966Ala) n.3023T>G c.2590T>G (p.Ser864Ala) c.2848T>G (p.Ser950Ala) c.2743T>G (p.Ser915Ala) c.2689T>G (p.Ser897Ala) c.2767T>G (p.Ser923Ala) c.2518T>G (p.Ser840Ala) c.2749T>G (p.Ser917Ala) c.1675T>G (p.Ser559Ala) n.2730T>G | |
1 | g.151406160A>G | CA341947928 | POGZ | c.2923T>C (p.Ser975Pro) c.2716T>C (p.Ser906Pro) c.2875T>C (p.Ser959Pro) c.2896T>C (p.Ser966Pro) n.3023T>C c.2590T>C (p.Ser864Pro) c.2848T>C (p.Ser950Pro) c.2743T>C (p.Ser915Pro) c.2689T>C (p.Ser897Pro) c.2767T>C (p.Ser923Pro) c.2518T>C (p.Ser840Pro) c.2749T>C (p.Ser917Pro) c.1675T>C (p.Ser559Pro) n.2730T>C | |
1 | g.151406160A>T | CA341947924 | POGZ | c.2923T>A (p.Ser975Thr) c.2716T>A (p.Ser906Thr) c.2875T>A (p.Ser959Thr) c.2896T>A (p.Ser966Thr) n.3023T>A c.2590T>A (p.Ser864Thr) c.2848T>A (p.Ser950Thr) c.2743T>A (p.Ser915Thr) c.2689T>A (p.Ser897Thr) c.2767T>A (p.Ser923Thr) c.2518T>A (p.Ser840Thr) c.2749T>A (p.Ser917Thr) c.1675T>A (p.Ser559Thr) n.2730T>A | |
1 | g.151406161del | CA2574056015 | POGZ | c.2922del (p.Ser975GlnfsTer17) c.2715del (p.Ser906GlnfsTer17) c.2874del (p.Ser959GlnfsTer17) c.2895del (p.Ser966GlnfsTer17) n.3022del c.2589del (p.Ser864GlnfsTer17) c.2847del (p.Ser950GlnfsTer17) c.2742del (p.Ser915GlnfsTer17) c.2688del (p.Ser897GlnfsTer17) c.2766del (p.Ser923GlnfsTer17) c.2517del (p.Ser840GlnfsTer17) c.2748del (p.Ser917GlnfsTer17) c.1674del (p.Ser559GlnfsTer17) n.2729del | |
1 | g.151406161T>A | CA420910014 | POGZ | c.2922A>T (p.Ala974=) c.2715A>T (p.Ala905=) c.2874A>T (p.Ala958=) c.2895A>T (p.Ala965=) n.3022A>T c.2589A>T (p.Ala863=) c.2847A>T (p.Ala949=) c.2742A>T (p.Ala914=) c.2688A>T (p.Ala896=) c.2766A>T (p.Ala922=) c.2517A>T (p.Ala839=) c.2748A>T (p.Ala916=) c.1674A>T (p.Ala558=) n.2729A>T | |
1 | g.151406161T>C | CA420910013 | POGZ | c.2922A>G (p.Ala974=) c.2715A>G (p.Ala905=) c.2874A>G (p.Ala958=) c.2895A>G (p.Ala965=) n.3022A>G c.2589A>G (p.Ala863=) c.2847A>G (p.Ala949=) c.2742A>G (p.Ala914=) c.2688A>G (p.Ala896=) c.2766A>G (p.Ala922=) c.2517A>G (p.Ala839=) c.2748A>G (p.Ala916=) c.1674A>G (p.Ala558=) n.2729A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.151406161T>G | CA420910012 | POGZ | c.2922A>C (p.Ala974=) c.2715A>C (p.Ala905=) c.2874A>C (p.Ala958=) c.2895A>C (p.Ala965=) n.3022A>C c.2589A>C (p.Ala863=) c.2847A>C (p.Ala949=) c.2742A>C (p.Ala914=) c.2688A>C (p.Ala896=) c.2766A>C (p.Ala922=) c.2517A>C (p.Ala839=) c.2748A>C (p.Ala916=) c.1674A>C (p.Ala558=) n.2729A>C | |
1 | g.151406161T= | CA2479570535 | POGZ | c.2922A= (p.Ala974=) c.2715A= (p.Ala905=) c.2874A= (p.Ala958=) c.2895A= (p.Ala965=) n.3022A= c.2589A= (p.Ala863=) c.2847A= (p.Ala949=) c.2742A= (p.Ala914=) c.2688A= (p.Ala896=) c.2766A= (p.Ala922=) c.2517A= (p.Ala839=) c.2748A= (p.Ala916=) c.1674A= (p.Ala558=) n.2729A= | |
1 | g.151406161_151406162del | CA2586964170 | POGZ | c.2921_2922del (p.Ala974ValfsTer6) c.2714_2715del (p.Ala905ValfsTer6) c.2873_2874del (p.Ala958ValfsTer6) c.2894_2895del (p.Ala965ValfsTer6) n.3021_3022del c.2588_2589del (p.Ala863ValfsTer6) c.2846_2847del (p.Ala949ValfsTer6) c.2741_2742del (p.Ala914ValfsTer6) c.2687_2688del (p.Ala896ValfsTer6) c.2765_2766del (p.Ala922ValfsTer6) c.2516_2517del (p.Ala839ValfsTer6) c.2747_2748del (p.Ala916ValfsTer6) c.1673_1674del (p.Ala558ValfsTer6) n.2728_2729del | |
1 | g.151406162G>A | CA1091042 | POGZ | c.2921C>T (p.Ala974Val) c.2714C>T (p.Ala905Val) c.2873C>T (p.Ala958Val) c.2894C>T (p.Ala965Val) n.3021C>T c.2588C>T (p.Ala863Val) c.2846C>T (p.Ala949Val) c.2741C>T (p.Ala914Val) c.2687C>T (p.Ala896Val) c.2765C>T (p.Ala922Val) c.2516C>T (p.Ala839Val) c.2747C>T (p.Ala916Val) c.1673C>T (p.Ala558Val) n.2728C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.151406162G>C | CA341947940 | POGZ | c.2921C>G (p.Ala974Gly) c.2714C>G (p.Ala905Gly) c.2873C>G (p.Ala958Gly) c.2894C>G (p.Ala965Gly) n.3021C>G c.2588C>G (p.Ala863Gly) c.2846C>G (p.Ala949Gly) c.2741C>G (p.Ala914Gly) c.2687C>G (p.Ala896Gly) c.2765C>G (p.Ala922Gly) c.2516C>G (p.Ala839Gly) c.2747C>G (p.Ala916Gly) c.1673C>G (p.Ala558Gly) n.2728C>G | |
1 | g.151406162G= | CA2479570536 | POGZ | c.2921C= (p.Ala974=) c.2714C= (p.Ala905=) c.2873C= (p.Ala958=) c.2894C= (p.Ala965=) n.3021C= c.2588C= (p.Ala863=) c.2846C= (p.Ala949=) c.2741C= (p.Ala914=) c.2687C= (p.Ala896=) c.2765C= (p.Ala922=) c.2516C= (p.Ala839=) c.2747C= (p.Ala916=) c.1673C= (p.Ala558=) n.2728C= | |
1 | g.151406162G>T | CA341947961 | POGZ | c.2921C>A (p.Ala974Glu) c.2714C>A (p.Ala905Glu) c.2873C>A (p.Ala958Glu) c.2894C>A (p.Ala965Glu) n.3021C>A c.2588C>A (p.Ala863Glu) c.2846C>A (p.Ala949Glu) c.2741C>A (p.Ala914Glu) c.2687C>A (p.Ala896Glu) c.2765C>A (p.Ala922Glu) c.2516C>A (p.Ala839Glu) c.2747C>A (p.Ala916Glu) c.1673C>A (p.Ala558Glu) n.2728C>A | |
1 | g.151406163C>A | CA341947969 | POGZ | c.2920G>T (p.Ala974Ser) c.2713G>T (p.Ala905Ser) c.2872G>T (p.Ala958Ser) c.2893G>T (p.Ala965Ser) n.3020G>T c.2587G>T (p.Ala863Ser) c.2845G>T (p.Ala949Ser) c.2740G>T (p.Ala914Ser) c.2686G>T (p.Ala896Ser) c.2764G>T (p.Ala922Ser) c.2515G>T (p.Ala839Ser) c.2746G>T (p.Ala916Ser) c.1672G>T (p.Ala558Ser) n.2727G>T | |
1 | g.151406163C= | CA1148465950 | POGZ | c.2920G= (p.Ala974=) c.2713G= (p.Ala905=) c.2872G= (p.Ala958=) c.2893G= (p.Ala965=) n.3020G= c.2587G= (p.Ala863=) c.2845G= (p.Ala949=) c.2740G= (p.Ala914=) c.2686G= (p.Ala896=) c.2764G= (p.Ala922=) c.2515G= (p.Ala839=) c.2746G= (p.Ala916=) c.1672G= (p.Ala558=) n.2727G= | |
1 | g.151406163C>G | CA341947985 | POGZ | c.2920G>C (p.Ala974Pro) c.2713G>C (p.Ala905Pro) c.2872G>C (p.Ala958Pro) c.2893G>C (p.Ala965Pro) n.3020G>C c.2587G>C (p.Ala863Pro) c.2845G>C (p.Ala949Pro) c.2740G>C (p.Ala914Pro) c.2686G>C (p.Ala896Pro) c.2764G>C (p.Ala922Pro) c.2515G>C (p.Ala839Pro) c.2746G>C (p.Ala916Pro) c.1672G>C (p.Ala558Pro) n.2727G>C | |
1 | g.151406163C>T | CA1091043 | POGZ | c.2920G>A (p.Ala974Thr) c.2713G>A (p.Ala905Thr) c.2872G>A (p.Ala958Thr) c.2893G>A (p.Ala965Thr) n.3020G>A c.2587G>A (p.Ala863Thr) c.2845G>A (p.Ala949Thr) c.2740G>A (p.Ala914Thr) c.2686G>A (p.Ala896Thr) c.2764G>A (p.Ala922Thr) c.2515G>A (p.Ala839Thr) c.2746G>A (p.Ala916Thr) c.1672G>A (p.Ala558Thr) n.2727G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.151406164T>A | CA420910015 | POGZ | c.2919A>T (p.Leu973=) c.2712A>T (p.Leu904=) c.2871A>T (p.Leu957=) c.2892A>T (p.Leu964=) n.3019A>T c.2586A>T (p.Leu862=) c.2844A>T (p.Leu948=) c.2739A>T (p.Leu913=) c.2685A>T (p.Leu895=) c.2763A>T (p.Leu921=) c.2514A>T (p.Leu838=) c.2745A>T (p.Leu915=) c.1671A>T (p.Leu557=) n.2726A>T | |
1 | g.151406164T>C | CA420910016 | POGZ | c.2919A>G (p.Leu973=) c.2712A>G (p.Leu904=) c.2871A>G (p.Leu957=) c.2892A>G (p.Leu964=) n.3019A>G c.2586A>G (p.Leu862=) c.2844A>G (p.Leu948=) c.2739A>G (p.Leu913=) c.2685A>G (p.Leu895=) c.2763A>G (p.Leu921=) c.2514A>G (p.Leu838=) c.2745A>G (p.Leu915=) c.1671A>G (p.Leu557=) n.2726A>G | |
1 | g.151406164T>G | CA420910017 | POGZ | c.2919A>C (p.Leu973=) c.2712A>C (p.Leu904=) c.2871A>C (p.Leu957=) c.2892A>C (p.Leu964=) n.3019A>C c.2586A>C (p.Leu862=) c.2844A>C (p.Leu948=) c.2739A>C (p.Leu913=) c.2685A>C (p.Leu895=) c.2763A>C (p.Leu921=) c.2514A>C (p.Leu838=) c.2745A>C (p.Leu915=) c.1671A>C (p.Leu557=) n.2726A>C | |
1 | g.151406165A>C | CA341947991 | POGZ | c.2918T>G (p.Leu973Arg) c.2711T>G (p.Leu904Arg) c.2870T>G (p.Leu957Arg) c.2891T>G (p.Leu964Arg) n.3018T>G c.2585T>G (p.Leu862Arg) c.2843T>G (p.Leu948Arg) c.2738T>G (p.Leu913Arg) c.2684T>G (p.Leu895Arg) c.2762T>G (p.Leu921Arg) c.2513T>G (p.Leu838Arg) c.2744T>G (p.Leu915Arg) c.1670T>G (p.Leu557Arg) n.2725T>G | |
1 | g.151406165A>G | CA341947994 | POGZ | c.2918T>C (p.Leu973Pro) c.2711T>C (p.Leu904Pro) c.2870T>C (p.Leu957Pro) c.2891T>C (p.Leu964Pro) n.3018T>C c.2585T>C (p.Leu862Pro) c.2843T>C (p.Leu948Pro) c.2738T>C (p.Leu913Pro) c.2684T>C (p.Leu895Pro) c.2762T>C (p.Leu921Pro) c.2513T>C (p.Leu838Pro) c.2744T>C (p.Leu915Pro) c.1670T>C (p.Leu557Pro) n.2725T>C | gnomAD v4 |
1 | g.151406165A>T | CA341947999 | POGZ | c.2918T>A (p.Leu973Gln) c.2711T>A (p.Leu904Gln) c.2870T>A (p.Leu957Gln) c.2891T>A (p.Leu964Gln) n.3018T>A c.2585T>A (p.Leu862Gln) c.2843T>A (p.Leu948Gln) c.2738T>A (p.Leu913Gln) c.2684T>A (p.Leu895Gln) c.2762T>A (p.Leu921Gln) c.2513T>A (p.Leu838Gln) c.2744T>A (p.Leu915Gln) c.1670T>A (p.Leu557Gln) n.2725T>A | |
1 | g.151406166G>A | CA420910018 | POGZ | c.2917C>T (p.Leu973=) c.2710C>T (p.Leu904=) c.2869C>T (p.Leu957=) c.2890C>T (p.Leu964=) n.3017C>T c.2584C>T (p.Leu862=) c.2842C>T (p.Leu948=) c.2737C>T (p.Leu913=) c.2683C>T (p.Leu895=) c.2761C>T (p.Leu921=) c.2512C>T (p.Leu838=) c.2743C>T (p.Leu915=) c.1669C>T (p.Leu557=) n.2724C>T | |
1 | g.151406166G>C | CA341948009 | POGZ | c.2917C>G (p.Leu973Val) c.2710C>G (p.Leu904Val) c.2869C>G (p.Leu957Val) c.2890C>G (p.Leu964Val) n.3017C>G c.2584C>G (p.Leu862Val) c.2842C>G (p.Leu948Val) c.2737C>G (p.Leu913Val) c.2683C>G (p.Leu895Val) c.2761C>G (p.Leu921Val) c.2512C>G (p.Leu838Val) c.2743C>G (p.Leu915Val) c.1669C>G (p.Leu557Val) n.2724C>G | gnomAD v4 |
1 | g.151406166G>T | CA341948014 | POGZ | c.2917C>A (p.Leu973Ile) c.2710C>A (p.Leu904Ile) c.2869C>A (p.Leu957Ile) c.2890C>A (p.Leu964Ile) n.3017C>A c.2584C>A (p.Leu862Ile) c.2842C>A (p.Leu948Ile) c.2737C>A (p.Leu913Ile) c.2683C>A (p.Leu895Ile) c.2761C>A (p.Leu921Ile) c.2512C>A (p.Leu838Ile) c.2743C>A (p.Leu915Ile) c.1669C>A (p.Leu557Ile) n.2724C>A | |
1 | g.151406167C>A | CA341948018 | POGZ | c.2916G>T (p.Glu972Asp) c.2709G>T (p.Glu903Asp) c.2868G>T (p.Glu956Asp) c.2889G>T (p.Glu963Asp) n.3016G>T c.2583G>T (p.Glu861Asp) c.2841G>T (p.Glu947Asp) c.2736G>T (p.Glu912Asp) c.2682G>T (p.Glu894Asp) c.2760G>T (p.Glu920Asp) c.2511G>T (p.Glu837Asp) c.2742G>T (p.Glu914Asp) c.1668G>T (p.Glu556Asp) n.2723G>T | |
1 | g.151406167C= | CA2479570537 | POGZ | c.2916G= (p.Glu972=) c.2709G= (p.Glu903=) c.2868G= (p.Glu956=) c.2889G= (p.Glu963=) n.3016G= c.2583G= (p.Glu861=) c.2841G= (p.Glu947=) c.2736G= (p.Glu912=) c.2682G= (p.Glu894=) c.2760G= (p.Glu920=) c.2511G= (p.Glu837=) c.2742G= (p.Glu914=) c.1668G= (p.Glu556=) n.2723G= | |
1 | g.151406167C>G | CA341948019 | POGZ | c.2916G>C (p.Glu972Asp) c.2709G>C (p.Glu903Asp) c.2868G>C (p.Glu956Asp) c.2889G>C (p.Glu963Asp) n.3016G>C c.2583G>C (p.Glu861Asp) c.2841G>C (p.Glu947Asp) c.2736G>C (p.Glu912Asp) c.2682G>C (p.Glu894Asp) c.2760G>C (p.Glu920Asp) c.2511G>C (p.Glu837Asp) c.2742G>C (p.Glu914Asp) c.1668G>C (p.Glu556Asp) n.2723G>C | gnomAD v4 |
1 | g.151406167C>T | CA1091044 | POGZ | c.2916G>A (p.Glu972=) c.2709G>A (p.Glu903=) c.2868G>A (p.Glu956=) c.2889G>A (p.Glu963=) n.3016G>A c.2583G>A (p.Glu861=) c.2841G>A (p.Glu947=) c.2736G>A (p.Glu912=) c.2682G>A (p.Glu894=) c.2760G>A (p.Glu920=) c.2511G>A (p.Glu837=) c.2742G>A (p.Glu914=) c.1668G>A (p.Glu556=) n.2723G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.151406167_151406168insA | CA2574056016 | POGZ | c.2915_2916insT (p.Glu972AspfsTer9) c.2708_2709insT (p.Glu903AspfsTer9) c.2867_2868insT (p.Glu956AspfsTer9) c.2888_2889insT (p.Glu963AspfsTer9) n.3015_3016insT c.2582_2583insT (p.Glu861AspfsTer9) c.2840_2841insT (p.Glu947AspfsTer9) c.2735_2736insT (p.Glu912AspfsTer9) c.2681_2682insT (p.Glu894AspfsTer9) c.2759_2760insT (p.Glu920AspfsTer9) c.2510_2511insT (p.Glu837AspfsTer9) c.2741_2742insT (p.Glu914AspfsTer9) c.1667_1668insT (p.Glu556AspfsTer9) n.2722_2723insT | |
1 | g.151406168T>A | CA341948028 | POGZ | c.2915A>T (p.Glu972Val) c.2708A>T (p.Glu903Val) c.2867A>T (p.Glu956Val) c.2888A>T (p.Glu963Val) n.3015A>T c.2582A>T (p.Glu861Val) c.2840A>T (p.Glu947Val) c.2735A>T (p.Glu912Val) c.2681A>T (p.Glu894Val) c.2759A>T (p.Glu920Val) c.2510A>T (p.Glu837Val) c.2741A>T (p.Glu914Val) c.1667A>T (p.Glu556Val) n.2722A>T | |
1 | g.151406168T>C | CA341948032 | POGZ | c.2915A>G (p.Glu972Gly) c.2708A>G (p.Glu903Gly) c.2867A>G (p.Glu956Gly) c.2888A>G (p.Glu963Gly) n.3015A>G c.2582A>G (p.Glu861Gly) c.2840A>G (p.Glu947Gly) c.2735A>G (p.Glu912Gly) c.2681A>G (p.Glu894Gly) c.2759A>G (p.Glu920Gly) c.2510A>G (p.Glu837Gly) c.2741A>G (p.Glu914Gly) c.1667A>G (p.Glu556Gly) n.2722A>G | |
1 | g.151406168T>G | CA29569261 | POGZ | c.2915A>C (p.Glu972Ala) c.2708A>C (p.Glu903Ala) c.2867A>C (p.Glu956Ala) c.2888A>C (p.Glu963Ala) n.3015A>C c.2582A>C (p.Glu861Ala) c.2840A>C (p.Glu947Ala) c.2735A>C (p.Glu912Ala) c.2681A>C (p.Glu894Ala) c.2759A>C (p.Glu920Ala) c.2510A>C (p.Glu837Ala) c.2741A>C (p.Glu914Ala) c.1667A>C (p.Glu556Ala) n.2722A>C | dbSNP |
1 | g.151406168T= | CA1146712103 | POGZ | c.2915A= (p.Glu972=) c.2708A= (p.Glu903=) c.2867A= (p.Glu956=) c.2888A= (p.Glu963=) n.3015A= c.2582A= (p.Glu861=) c.2840A= (p.Glu947=) c.2735A= (p.Glu912=) c.2681A= (p.Glu894=) c.2759A= (p.Glu920=) c.2510A= (p.Glu837=) c.2741A= (p.Glu914=) c.1667A= (p.Glu556=) n.2722A= | |
1 | g.151406169C>A | CA341948048 | POGZ | c.2914G>T (p.Glu972Ter) c.2707G>T (p.Glu903Ter) c.2866G>T (p.Glu956Ter) c.2887G>T (p.Glu963Ter) n.3014G>T c.2581G>T (p.Glu861Ter) c.2839G>T (p.Glu947Ter) c.2734G>T (p.Glu912Ter) c.2680G>T (p.Glu894Ter) c.2758G>T (p.Glu920Ter) c.2509G>T (p.Glu837Ter) c.2740G>T (p.Glu914Ter) c.1666G>T (p.Glu556Ter) n.2721G>T | |
1 | g.151406169C>G | CA341948045 | POGZ | c.2914G>C (p.Glu972Gln) c.2707G>C (p.Glu903Gln) c.2866G>C (p.Glu956Gln) c.2887G>C (p.Glu963Gln) n.3014G>C c.2581G>C (p.Glu861Gln) c.2839G>C (p.Glu947Gln) c.2734G>C (p.Glu912Gln) c.2680G>C (p.Glu894Gln) c.2758G>C (p.Glu920Gln) c.2509G>C (p.Glu837Gln) c.2740G>C (p.Glu914Gln) c.1666G>C (p.Glu556Gln) n.2721G>C | |
1 | g.151406169C>T | CA341948041 | POGZ | c.2914G>A (p.Glu972Lys) c.2707G>A (p.Glu903Lys) c.2866G>A (p.Glu956Lys) c.2887G>A (p.Glu963Lys) n.3014G>A c.2581G>A (p.Glu861Lys) c.2839G>A (p.Glu947Lys) c.2734G>A (p.Glu912Lys) c.2680G>A (p.Glu894Lys) c.2758G>A (p.Glu920Lys) c.2509G>A (p.Glu837Lys) c.2740G>A (p.Glu914Lys) c.1666G>A (p.Glu556Lys) n.2721G>A | |
1 | g.151406170A>C | CA420910022 | POGZ | c.2913T>G (p.Pro971=) c.2706T>G (p.Pro902=) c.2865T>G (p.Pro955=) c.2886T>G (p.Pro962=) n.3013T>G c.2580T>G (p.Pro860=) c.2838T>G (p.Pro946=) c.2733T>G (p.Pro911=) c.2679T>G (p.Pro893=) c.2757T>G (p.Pro919=) c.2508T>G (p.Pro836=) c.2739T>G (p.Pro913=) c.1665T>G (p.Pro555=) n.2720T>G | ClinVar gnomAD v4 |
1 | g.151406170A>G | CA420910023 | POGZ | c.2913T>C (p.Pro971=) c.2706T>C (p.Pro902=) c.2865T>C (p.Pro955=) c.2886T>C (p.Pro962=) n.3013T>C c.2580T>C (p.Pro860=) c.2838T>C (p.Pro946=) c.2733T>C (p.Pro911=) c.2679T>C (p.Pro893=) c.2757T>C (p.Pro919=) c.2508T>C (p.Pro836=) c.2739T>C (p.Pro913=) c.1665T>C (p.Pro555=) n.2720T>C | |
1 | g.151406170A>T | CA420910024 | POGZ | c.2913T>A (p.Pro971=) c.2706T>A (p.Pro902=) c.2865T>A (p.Pro955=) c.2886T>A (p.Pro962=) n.3013T>A c.2580T>A (p.Pro860=) c.2838T>A (p.Pro946=) c.2733T>A (p.Pro911=) c.2679T>A (p.Pro893=) c.2757T>A (p.Pro919=) c.2508T>A (p.Pro836=) c.2739T>A (p.Pro913=) c.1665T>A (p.Pro555=) n.2720T>A | |
1 | g.151406171G>A | CA341948053 | POGZ | c.2912C>T (p.Pro971Leu) c.2705C>T (p.Pro902Leu) c.2864C>T (p.Pro955Leu) c.2885C>T (p.Pro962Leu) n.3012C>T c.2579C>T (p.Pro860Leu) c.2837C>T (p.Pro946Leu) c.2732C>T (p.Pro911Leu) c.2678C>T (p.Pro893Leu) c.2756C>T (p.Pro919Leu) c.2507C>T (p.Pro836Leu) c.2738C>T (p.Pro913Leu) c.1664C>T (p.Pro555Leu) n.2719C>T | gnomAD v4 |
1 | g.151406171G>C | CA1091045 | POGZ | c.2912C>G (p.Pro971Arg) c.2705C>G (p.Pro902Arg) c.2864C>G (p.Pro955Arg) c.2885C>G (p.Pro962Arg) n.3012C>G c.2579C>G (p.Pro860Arg) c.2837C>G (p.Pro946Arg) c.2732C>G (p.Pro911Arg) c.2678C>G (p.Pro893Arg) c.2756C>G (p.Pro919Arg) c.2507C>G (p.Pro836Arg) c.2738C>G (p.Pro913Arg) c.1664C>G (p.Pro555Arg) n.2719C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.151406171G= | CA2479570538 | POGZ | c.2912C= (p.Pro971=) c.2705C= (p.Pro902=) c.2864C= (p.Pro955=) c.2885C= (p.Pro962=) n.3012C= c.2579C= (p.Pro860=) c.2837C= (p.Pro946=) c.2732C= (p.Pro911=) c.2678C= (p.Pro893=) c.2756C= (p.Pro919=) c.2507C= (p.Pro836=) c.2738C= (p.Pro913=) c.1664C= (p.Pro555=) n.2719C= | |
1 | g.151406171G>T | CA341948058 | POGZ | c.2912C>A (p.Pro971His) c.2705C>A (p.Pro902His) c.2864C>A (p.Pro955His) c.2885C>A (p.Pro962His) n.3012C>A c.2579C>A (p.Pro860His) c.2837C>A (p.Pro946His) c.2732C>A (p.Pro911His) c.2678C>A (p.Pro893His) c.2756C>A (p.Pro919His) c.2507C>A (p.Pro836His) c.2738C>A (p.Pro913His) c.1664C>A (p.Pro555His) n.2719C>A | |
1 | g.151406172G>A | CA341948066 | POGZ | c.2911C>T (p.Pro971Ser) c.2704C>T (p.Pro902Ser) c.2863C>T (p.Pro955Ser) c.2884C>T (p.Pro962Ser) n.3011C>T c.2578C>T (p.Pro860Ser) c.2836C>T (p.Pro946Ser) c.2731C>T (p.Pro911Ser) c.2677C>T (p.Pro893Ser) c.2755C>T (p.Pro919Ser) c.2506C>T (p.Pro836Ser) c.2737C>T (p.Pro913Ser) c.1663C>T (p.Pro555Ser) n.2718C>T | |
1 | g.151406172G>C | CA341948067 | POGZ | c.2911C>G (p.Pro971Ala) c.2704C>G (p.Pro902Ala) c.2863C>G (p.Pro955Ala) c.2884C>G (p.Pro962Ala) n.3011C>G c.2578C>G (p.Pro860Ala) c.2836C>G (p.Pro946Ala) c.2731C>G (p.Pro911Ala) c.2677C>G (p.Pro893Ala) c.2755C>G (p.Pro919Ala) c.2506C>G (p.Pro836Ala) c.2737C>G (p.Pro913Ala) c.1663C>G (p.Pro555Ala) n.2718C>G | |
1 | g.151406172G>T | CA341948077 | POGZ | c.2911C>A (p.Pro971Thr) c.2704C>A (p.Pro902Thr) c.2863C>A (p.Pro955Thr) c.2884C>A (p.Pro962Thr) n.3011C>A c.2578C>A (p.Pro860Thr) c.2836C>A (p.Pro946Thr) c.2731C>A (p.Pro911Thr) c.2677C>A (p.Pro893Thr) c.2755C>A (p.Pro919Thr) c.2506C>A (p.Pro836Thr) c.2737C>A (p.Pro913Thr) c.1663C>A (p.Pro555Thr) n.2718C>A | |
1 | g.151406173T>A | CA341948087 | POGZ | c.2910A>T (p.Glu970Asp) c.2703A>T (p.Glu901Asp) c.2862A>T (p.Glu954Asp) c.2883A>T (p.Glu961Asp) n.3010A>T c.2577A>T (p.Glu859Asp) c.2835A>T (p.Glu945Asp) c.2730A>T (p.Glu910Asp) c.2676A>T (p.Glu892Asp) c.2754A>T (p.Glu918Asp) c.2505A>T (p.Glu835Asp) c.2736A>T (p.Glu912Asp) c.1662A>T (p.Glu554Asp) n.2717A>T | |
1 | g.151406173T>C | CA420910026 | POGZ | c.2910A>G (p.Glu970=) c.2703A>G (p.Glu901=) c.2862A>G (p.Glu954=) c.2883A>G (p.Glu961=) n.3010A>G c.2577A>G (p.Glu859=) c.2835A>G (p.Glu945=) c.2730A>G (p.Glu910=) c.2676A>G (p.Glu892=) c.2754A>G (p.Glu918=) c.2505A>G (p.Glu835=) c.2736A>G (p.Glu912=) c.1662A>G (p.Glu554=) n.2717A>G | |
1 | g.151406173T>G | CA1091046 | POGZ | c.2910A>C (p.Glu970Asp) c.2703A>C (p.Glu901Asp) c.2862A>C (p.Glu954Asp) c.2883A>C (p.Glu961Asp) n.3010A>C c.2577A>C (p.Glu859Asp) c.2835A>C (p.Glu945Asp) c.2730A>C (p.Glu910Asp) c.2676A>C (p.Glu892Asp) c.2754A>C (p.Glu918Asp) c.2505A>C (p.Glu835Asp) c.2736A>C (p.Glu912Asp) c.1662A>C (p.Glu554Asp) n.2717A>C | dbSNP ExAC gnomAD v2 |
1 | g.151406173T= | CA2479570539 | POGZ | c.2910A= (p.Glu970=) c.2703A= (p.Glu901=) c.2862A= (p.Glu954=) c.2883A= (p.Glu961=) n.3010A= c.2577A= (p.Glu859=) c.2835A= (p.Glu945=) c.2730A= (p.Glu910=) c.2676A= (p.Glu892=) c.2754A= (p.Glu918=) c.2505A= (p.Glu835=) c.2736A= (p.Glu912=) c.1662A= (p.Glu554=) n.2717A= | |
1 | g.151406174T>A | CA341948095 | POGZ | c.2909A>T (p.Glu970Val) c.2702A>T (p.Glu901Val) c.2861A>T (p.Glu954Val) c.2882A>T (p.Glu961Val) n.3009A>T c.2576A>T (p.Glu859Val) c.2834A>T (p.Glu945Val) c.2729A>T (p.Glu910Val) c.2675A>T (p.Glu892Val) c.2753A>T (p.Glu918Val) c.2504A>T (p.Glu835Val) c.2735A>T (p.Glu912Val) c.1661A>T (p.Glu554Val) n.2716A>T | |
1 | g.151406174T>C | CA1091047 | POGZ | c.2909A>G (p.Glu970Gly) c.2702A>G (p.Glu901Gly) c.2861A>G (p.Glu954Gly) c.2882A>G (p.Glu961Gly) n.3009A>G c.2576A>G (p.Glu859Gly) c.2834A>G (p.Glu945Gly) c.2729A>G (p.Glu910Gly) c.2675A>G (p.Glu892Gly) c.2753A>G (p.Glu918Gly) c.2504A>G (p.Glu835Gly) c.2735A>G (p.Glu912Gly) c.1661A>G (p.Glu554Gly) n.2716A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.151406174T>G | CA341948107 | POGZ | c.2909A>C (p.Glu970Ala) c.2702A>C (p.Glu901Ala) c.2861A>C (p.Glu954Ala) c.2882A>C (p.Glu961Ala) n.3009A>C c.2576A>C (p.Glu859Ala) c.2834A>C (p.Glu945Ala) c.2729A>C (p.Glu910Ala) c.2675A>C (p.Glu892Ala) c.2753A>C (p.Glu918Ala) c.2504A>C (p.Glu835Ala) c.2735A>C (p.Glu912Ala) c.1661A>C (p.Glu554Ala) n.2716A>C | |
1 | g.151406174T= | CA2479570540 | POGZ | c.2909A= (p.Glu970=) c.2702A= (p.Glu901=) c.2861A= (p.Glu954=) c.2882A= (p.Glu961=) n.3009A= c.2576A= (p.Glu859=) c.2834A= (p.Glu945=) c.2729A= (p.Glu910=) c.2675A= (p.Glu892=) c.2753A= (p.Glu918=) c.2504A= (p.Glu835=) c.2735A= (p.Glu912=) c.1661A= (p.Glu554=) n.2716A= | |
1 | g.151406175C>A | CA341948130 | POGZ | c.2908G>T (p.Glu970Ter) c.2701G>T (p.Glu901Ter) c.2860G>T (p.Glu954Ter) c.2881G>T (p.Glu961Ter) n.3008G>T c.2575G>T (p.Glu859Ter) c.2833G>T (p.Glu945Ter) c.2728G>T (p.Glu910Ter) c.2674G>T (p.Glu892Ter) c.2752G>T (p.Glu918Ter) c.2503G>T (p.Glu835Ter) c.2734G>T (p.Glu912Ter) c.1660G>T (p.Glu554Ter) n.2715G>T | |
1 | g.151406175C>G | CA341948127 | POGZ | c.2908G>C (p.Glu970Gln) c.2701G>C (p.Glu901Gln) c.2860G>C (p.Glu954Gln) c.2881G>C (p.Glu961Gln) n.3008G>C c.2575G>C (p.Glu859Gln) c.2833G>C (p.Glu945Gln) c.2728G>C (p.Glu910Gln) c.2674G>C (p.Glu892Gln) c.2752G>C (p.Glu918Gln) c.2503G>C (p.Glu835Gln) c.2734G>C (p.Glu912Gln) c.1660G>C (p.Glu554Gln) n.2715G>C | |
1 | g.151406175C>T | CA341948113 | POGZ | c.2908G>A (p.Glu970Lys) c.2701G>A (p.Glu901Lys) c.2860G>A (p.Glu954Lys) c.2881G>A (p.Glu961Lys) n.3008G>A c.2575G>A (p.Glu859Lys) c.2833G>A (p.Glu945Lys) c.2728G>A (p.Glu910Lys) c.2674G>A (p.Glu892Lys) c.2752G>A (p.Glu918Lys) c.2503G>A (p.Glu835Lys) c.2734G>A (p.Glu912Lys) c.1660G>A (p.Glu554Lys) n.2715G>A | |
1 | g.151406176T>A | CA341948134 | POGZ | c.2907A>T (p.Gln969His) c.2700A>T (p.Gln900His) c.2859A>T (p.Gln953His) c.2880A>T (p.Gln960His) n.3007A>T c.2574A>T (p.Gln858His) c.2832A>T (p.Gln944His) c.2727A>T (p.Gln909His) c.2673A>T (p.Gln891His) c.2751A>T (p.Gln917His) c.2502A>T (p.Gln834His) c.2733A>T (p.Gln911His) c.1659A>T (p.Gln553His) n.2714A>T | |
1 | g.151406176T>C | CA1091048 | POGZ | c.2907A>G (p.Gln969=) c.2700A>G (p.Gln900=) c.2859A>G (p.Gln953=) c.2880A>G (p.Gln960=) n.3007A>G c.2574A>G (p.Gln858=) c.2832A>G (p.Gln944=) c.2727A>G (p.Gln909=) c.2673A>G (p.Gln891=) c.2751A>G (p.Gln917=) c.2502A>G (p.Gln834=) c.2733A>G (p.Gln911=) c.1659A>G (p.Gln553=) n.2714A>G | dbSNP ExAC |
1 | g.151406176T>G | CA341948141 | POGZ | c.2907A>C (p.Gln969His) c.2700A>C (p.Gln900His) c.2859A>C (p.Gln953His) c.2880A>C (p.Gln960His) n.3007A>C c.2574A>C (p.Gln858His) c.2832A>C (p.Gln944His) c.2727A>C (p.Gln909His) c.2673A>C (p.Gln891His) c.2751A>C (p.Gln917His) c.2502A>C (p.Gln834His) c.2733A>C (p.Gln911His) c.1659A>C (p.Gln553His) n.2714A>C | |
1 | g.151406176T= | CA2479570541 | POGZ | c.2907A= (p.Gln969=) c.2700A= (p.Gln900=) c.2859A= (p.Gln953=) c.2880A= (p.Gln960=) n.3007A= c.2574A= (p.Gln858=) c.2832A= (p.Gln944=) c.2727A= (p.Gln909=) c.2673A= (p.Gln891=) c.2751A= (p.Gln917=) c.2502A= (p.Gln834=) c.2733A= (p.Gln911=) c.1659A= (p.Gln553=) n.2714A= | |
1 | g.151406177T>A | CA341948147 | POGZ | c.2906A>T (p.Gln969Leu) c.2699A>T (p.Gln900Leu) c.2858A>T (p.Gln953Leu) c.2879A>T (p.Gln960Leu) n.3006A>T c.2573A>T (p.Gln858Leu) c.2831A>T (p.Gln944Leu) c.2726A>T (p.Gln909Leu) c.2672A>T (p.Gln891Leu) c.2750A>T (p.Gln917Leu) c.2501A>T (p.Gln834Leu) c.2732A>T (p.Gln911Leu) c.1658A>T (p.Gln553Leu) n.2713A>T | |
1 | g.151406177T>C | CA341948152 | POGZ | c.2906A>G (p.Gln969Arg) c.2699A>G (p.Gln900Arg) c.2858A>G (p.Gln953Arg) c.2879A>G (p.Gln960Arg) n.3006A>G c.2573A>G (p.Gln858Arg) c.2831A>G (p.Gln944Arg) c.2726A>G (p.Gln909Arg) c.2672A>G (p.Gln891Arg) c.2750A>G (p.Gln917Arg) c.2501A>G (p.Gln834Arg) c.2732A>G (p.Gln911Arg) c.1658A>G (p.Gln553Arg) n.2713A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.151406177T>G | CA341948155 | POGZ | c.2906A>C (p.Gln969Pro) c.2699A>C (p.Gln900Pro) c.2858A>C (p.Gln953Pro) c.2879A>C (p.Gln960Pro) n.3006A>C c.2573A>C (p.Gln858Pro) c.2831A>C (p.Gln944Pro) c.2726A>C (p.Gln909Pro) c.2672A>C (p.Gln891Pro) c.2750A>C (p.Gln917Pro) c.2501A>C (p.Gln834Pro) c.2732A>C (p.Gln911Pro) c.1658A>C (p.Gln553Pro) n.2713A>C | |
1 | g.151406177T= | CA2479570542 | POGZ | c.2906A= (p.Gln969=) c.2699A= (p.Gln900=) c.2858A= (p.Gln953=) c.2879A= (p.Gln960=) n.3006A= c.2573A= (p.Gln858=) c.2831A= (p.Gln944=) c.2726A= (p.Gln909=) c.2672A= (p.Gln891=) c.2750A= (p.Gln917=) c.2501A= (p.Gln834=) c.2732A= (p.Gln911=) c.1658A= (p.Gln553=) n.2713A= | |
1 | g.151406178G>A | CA341948162 | POGZ | c.2905C>T (p.Gln969Ter) c.2698C>T (p.Gln900Ter) c.2857C>T (p.Gln953Ter) c.2878C>T (p.Gln960Ter) n.3005C>T c.2572C>T (p.Gln858Ter) c.2830C>T (p.Gln944Ter) c.2725C>T (p.Gln909Ter) c.2671C>T (p.Gln891Ter) c.2749C>T (p.Gln917Ter) c.2500C>T (p.Gln834Ter) c.2731C>T (p.Gln911Ter) c.1657C>T (p.Gln553Ter) n.2712C>T | |
1 | g.151406178G>C | CA341948167 | POGZ | c.2905C>G (p.Gln969Glu) c.2698C>G (p.Gln900Glu) c.2857C>G (p.Gln953Glu) c.2878C>G (p.Gln960Glu) n.3005C>G c.2572C>G (p.Gln858Glu) c.2830C>G (p.Gln944Glu) c.2725C>G (p.Gln909Glu) c.2671C>G (p.Gln891Glu) c.2749C>G (p.Gln917Glu) c.2500C>G (p.Gln834Glu) c.2731C>G (p.Gln911Glu) c.1657C>G (p.Gln553Glu) n.2712C>G | |
1 | g.151406178G= | CA2479570543 | POGZ | c.2905C= (p.Gln969=) c.2698C= (p.Gln900=) c.2857C= (p.Gln953=) c.2878C= (p.Gln960=) n.3005C= c.2572C= (p.Gln858=) c.2830C= (p.Gln944=) c.2725C= (p.Gln909=) c.2671C= (p.Gln891=) c.2749C= (p.Gln917=) c.2500C= (p.Gln834=) c.2731C= (p.Gln911=) c.1657C= (p.Gln553=) n.2712C= | |
1 | g.151406178G>T | CA341948174 | POGZ | c.2905C>A (p.Gln969Lys) c.2698C>A (p.Gln900Lys) c.2857C>A (p.Gln953Lys) c.2878C>A (p.Gln960Lys) n.3005C>A c.2572C>A (p.Gln858Lys) c.2830C>A (p.Gln944Lys) c.2725C>A (p.Gln909Lys) c.2671C>A (p.Gln891Lys) c.2749C>A (p.Gln917Lys) c.2500C>A (p.Gln834Lys) c.2731C>A (p.Gln911Lys) c.1657C>A (p.Gln553Lys) n.2712C>A | |
1 | g.151406179G>A | CA420910034 | POGZ | c.2904C>T (p.Thr968=) c.2697C>T (p.Thr899=) c.2856C>T (p.Thr952=) c.2877C>T (p.Thr959=) n.3004C>T c.2571C>T (p.Thr857=) c.2829C>T (p.Thr943=) c.2724C>T (p.Thr908=) c.2670C>T (p.Thr890=) c.2748C>T (p.Thr916=) c.2499C>T (p.Thr833=) c.2730C>T (p.Thr910=) c.1656C>T (p.Thr552=) n.2711C>T | dbSNP gnomAD v4 |
1 | g.151406179G>C | CA420910036 | POGZ | c.2904C>G (p.Thr968=) c.2697C>G (p.Thr899=) c.2856C>G (p.Thr952=) c.2877C>G (p.Thr959=) n.3004C>G c.2571C>G (p.Thr857=) c.2829C>G (p.Thr943=) c.2724C>G (p.Thr908=) c.2670C>G (p.Thr890=) c.2748C>G (p.Thr916=) c.2499C>G (p.Thr833=) c.2730C>G (p.Thr910=) c.1656C>G (p.Thr552=) n.2711C>G | gnomAD v4 |
1 | g.151406179G= | CA2479570544 | POGZ | c.2904C= (p.Thr968=) c.2697C= (p.Thr899=) c.2856C= (p.Thr952=) c.2877C= (p.Thr959=) n.3004C= c.2571C= (p.Thr857=) c.2829C= (p.Thr943=) c.2724C= (p.Thr908=) c.2670C= (p.Thr890=) c.2748C= (p.Thr916=) c.2499C= (p.Thr833=) c.2730C= (p.Thr910=) c.1656C= (p.Thr552=) n.2711C= | |
1 | g.151406179G>T | CA420910038 | POGZ | c.2904C>A (p.Thr968=) c.2697C>A (p.Thr899=) c.2856C>A (p.Thr952=) c.2877C>A (p.Thr959=) n.3004C>A c.2571C>A (p.Thr857=) c.2829C>A (p.Thr943=) c.2724C>A (p.Thr908=) c.2670C>A (p.Thr890=) c.2748C>A (p.Thr916=) c.2499C>A (p.Thr833=) c.2730C>A (p.Thr910=) c.1656C>A (p.Thr552=) n.2711C>A | |
1 | g.151406179_151406184dup | CA526660632 | POGZ | c.2899_2904dup (p.Thr968_Gln969insValThr) c.2692_2697dup (p.Thr899_Gln900insValThr) c.2851_2856dup (p.Thr952_Gln953insValThr) c.2872_2877dup (p.Thr959_Gln960insValThr) n.2999_3004dup c.2566_2571dup (p.Thr857_Gln858insValThr) c.2824_2829dup (p.Thr943_Gln944insValThr) c.2719_2724dup (p.Thr908_Gln909insValThr) c.2665_2670dup (p.Thr890_Gln891insValThr) c.2743_2748dup (p.Thr916_Gln917insValThr) c.2494_2499dup (p.Thr833_Gln834insValThr) c.2725_2730dup (p.Thr910_Gln911insValThr) c.1651_1656dup (p.Thr552_Gln553insValThr) n.2706_2711dup | dbSNP gnomAD v2 gnomAD v4 |
1 | g.151406180G>A | CA341948179 | POGZ | c.2903C>T (p.Thr968Ile) c.2696C>T (p.Thr899Ile) c.2855C>T (p.Thr952Ile) c.2876C>T (p.Thr959Ile) n.3003C>T c.2570C>T (p.Thr857Ile) c.2828C>T (p.Thr943Ile) c.2723C>T (p.Thr908Ile) c.2669C>T (p.Thr890Ile) c.2747C>T (p.Thr916Ile) c.2498C>T (p.Thr833Ile) c.2729C>T (p.Thr910Ile) c.1655C>T (p.Thr552Ile) n.2710C>T | dbSNP gnomAD v4 |
1 | g.151406180G>C | CA341948182 | POGZ | c.2903C>G (p.Thr968Ser) c.2696C>G (p.Thr899Ser) c.2855C>G (p.Thr952Ser) c.2876C>G (p.Thr959Ser) n.3003C>G c.2570C>G (p.Thr857Ser) c.2828C>G (p.Thr943Ser) c.2723C>G (p.Thr908Ser) c.2669C>G (p.Thr890Ser) c.2747C>G (p.Thr916Ser) c.2498C>G (p.Thr833Ser) c.2729C>G (p.Thr910Ser) c.1655C>G (p.Thr552Ser) n.2710C>G | |
1 | g.151406180G>T | CA341948184 | POGZ | c.2903C>A (p.Thr968Asn) c.2696C>A (p.Thr899Asn) c.2855C>A (p.Thr952Asn) c.2876C>A (p.Thr959Asn) n.3003C>A c.2570C>A (p.Thr857Asn) c.2828C>A (p.Thr943Asn) c.2723C>A (p.Thr908Asn) c.2669C>A (p.Thr890Asn) c.2747C>A (p.Thr916Asn) c.2498C>A (p.Thr833Asn) c.2729C>A (p.Thr910Asn) c.1655C>A (p.Thr552Asn) n.2710C>A | |
1 | g.151406181T>A | CA341948200 | POGZ | c.2902A>T (p.Thr968Ser) c.2695A>T (p.Thr899Ser) c.2854A>T (p.Thr952Ser) c.2875A>T (p.Thr959Ser) n.3002A>T c.2569A>T (p.Thr857Ser) c.2827A>T (p.Thr943Ser) c.2722A>T (p.Thr908Ser) c.2668A>T (p.Thr890Ser) c.2746A>T (p.Thr916Ser) c.2497A>T (p.Thr833Ser) c.2728A>T (p.Thr910Ser) c.1654A>T (p.Thr552Ser) n.2709A>T | |
1 | g.151406181T>C | CA1091049 | POGZ | c.2902A>G (p.Thr968Ala) c.2695A>G (p.Thr899Ala) c.2854A>G (p.Thr952Ala) c.2875A>G (p.Thr959Ala) n.3002A>G c.2569A>G (p.Thr857Ala) c.2827A>G (p.Thr943Ala) c.2722A>G (p.Thr908Ala) c.2668A>G (p.Thr890Ala) c.2746A>G (p.Thr916Ala) c.2497A>G (p.Thr833Ala) c.2728A>G (p.Thr910Ala) c.1654A>G (p.Thr552Ala) n.2709A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.151406181T>G | CA341948193 | POGZ | c.2902A>C (p.Thr968Pro) c.2695A>C (p.Thr899Pro) c.2854A>C (p.Thr952Pro) c.2875A>C (p.Thr959Pro) n.3002A>C c.2569A>C (p.Thr857Pro) c.2827A>C (p.Thr943Pro) c.2722A>C (p.Thr908Pro) c.2668A>C (p.Thr890Pro) c.2746A>C (p.Thr916Pro) c.2497A>C (p.Thr833Pro) c.2728A>C (p.Thr910Pro) c.1654A>C (p.Thr552Pro) n.2709A>C | |
1 | g.151406181T= | CA2479570545 | POGZ | c.2902A= (p.Thr968=) c.2695A= (p.Thr899=) c.2854A= (p.Thr952=) c.2875A= (p.Thr959=) n.3002A= c.2569A= (p.Thr857=) c.2827A= (p.Thr943=) c.2722A= (p.Thr908=) c.2668A= (p.Thr890=) c.2746A= (p.Thr916=) c.2497A= (p.Thr833=) c.2728A= (p.Thr910=) c.1654A= (p.Thr552=) n.2709A= | |
1 | g.151406182G>A | CA1091050 | POGZ | c.2901C>T (p.Val967=) c.2694C>T (p.Val898=) c.2853C>T (p.Val951=) c.2874C>T (p.Val958=) n.3001C>T c.2568C>T (p.Val856=) c.2826C>T (p.Val942=) c.2721C>T (p.Val907=) c.2667C>T (p.Val889=) c.2745C>T (p.Val915=) c.2496C>T (p.Val832=) c.2727C>T (p.Val909=) c.1653C>T (p.Val551=) n.2708C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.151406182G>C | CA420910044 | POGZ | c.2901C>G (p.Val967=) c.2694C>G (p.Val898=) c.2853C>G (p.Val951=) c.2874C>G (p.Val958=) n.3001C>G c.2568C>G (p.Val856=) c.2826C>G (p.Val942=) c.2721C>G (p.Val907=) c.2667C>G (p.Val889=) c.2745C>G (p.Val915=) c.2496C>G (p.Val832=) c.2727C>G (p.Val909=) c.1653C>G (p.Val551=) n.2708C>G | |
1 | g.151406182G= | CA2479570546 | POGZ | c.2901C= (p.Val967=) c.2694C= (p.Val898=) c.2853C= (p.Val951=) c.2874C= (p.Val958=) n.3001C= c.2568C= (p.Val856=) c.2826C= (p.Val942=) c.2721C= (p.Val907=) c.2667C= (p.Val889=) c.2745C= (p.Val915=) c.2496C= (p.Val832=) c.2727C= (p.Val909=) c.1653C= (p.Val551=) n.2708C= | |
1 | g.151406182G>T | CA420910043 | POGZ | c.2901C>A (p.Val967=) c.2694C>A (p.Val898=) c.2853C>A (p.Val951=) c.2874C>A (p.Val958=) n.3001C>A c.2568C>A (p.Val856=) c.2826C>A (p.Val942=) c.2721C>A (p.Val907=) c.2667C>A (p.Val889=) c.2745C>A (p.Val915=) c.2496C>A (p.Val832=) c.2727C>A (p.Val909=) c.1653C>A (p.Val551=) n.2708C>A | |
1 | g.151406183A>C | CA341948209 | POGZ | c.2900T>G (p.Val967Gly) c.2693T>G (p.Val898Gly) c.2852T>G (p.Val951Gly) c.2873T>G (p.Val958Gly) n.3000T>G c.2567T>G (p.Val856Gly) c.2825T>G (p.Val942Gly) c.2720T>G (p.Val907Gly) c.2666T>G (p.Val889Gly) c.2744T>G (p.Val915Gly) c.2495T>G (p.Val832Gly) c.2726T>G (p.Val909Gly) c.1652T>G (p.Val551Gly) n.2707T>G | |
1 | g.151406183A>G | CA341948212 | POGZ | c.2900T>C (p.Val967Ala) c.2693T>C (p.Val898Ala) c.2852T>C (p.Val951Ala) c.2873T>C (p.Val958Ala) n.3000T>C c.2567T>C (p.Val856Ala) c.2825T>C (p.Val942Ala) c.2720T>C (p.Val907Ala) c.2666T>C (p.Val889Ala) c.2744T>C (p.Val915Ala) c.2495T>C (p.Val832Ala) c.2726T>C (p.Val909Ala) c.1652T>C (p.Val551Ala) n.2707T>C | |
1 | g.151406183A>T | CA341948216 | POGZ | c.2900T>A (p.Val967Asp) c.2693T>A (p.Val898Asp) c.2852T>A (p.Val951Asp) c.2873T>A (p.Val958Asp) n.3000T>A c.2567T>A (p.Val856Asp) c.2825T>A (p.Val942Asp) c.2720T>A (p.Val907Asp) c.2666T>A (p.Val889Asp) c.2744T>A (p.Val915Asp) c.2495T>A (p.Val832Asp) c.2726T>A (p.Val909Asp) c.1652T>A (p.Val551Asp) n.2707T>A | |
1 | g.151406184C>A | CA341948225 | POGZ | c.2899G>T (p.Val967Phe) c.2692G>T (p.Val898Phe) c.2851G>T (p.Val951Phe) c.2872G>T (p.Val958Phe) n.2999G>T c.2566G>T (p.Val856Phe) c.2824G>T (p.Val942Phe) c.2719G>T (p.Val907Phe) c.2665G>T (p.Val889Phe) c.2743G>T (p.Val915Phe) c.2494G>T (p.Val832Phe) c.2725G>T (p.Val909Phe) c.1651G>T (p.Val551Phe) n.2706G>T | |
1 | g.151406184C>G | CA341948227 | POGZ | c.2899G>C (p.Val967Leu) c.2692G>C (p.Val898Leu) c.2851G>C (p.Val951Leu) c.2872G>C (p.Val958Leu) n.2999G>C c.2566G>C (p.Val856Leu) c.2824G>C (p.Val942Leu) c.2719G>C (p.Val907Leu) c.2665G>C (p.Val889Leu) c.2743G>C (p.Val915Leu) c.2494G>C (p.Val832Leu) c.2725G>C (p.Val909Leu) c.1651G>C (p.Val551Leu) n.2706G>C | |
1 | g.151406184C>T | CA341948230 | POGZ | c.2899G>A (p.Val967Ile) c.2692G>A (p.Val898Ile) c.2851G>A (p.Val951Ile) c.2872G>A (p.Val958Ile) n.2999G>A c.2566G>A (p.Val856Ile) c.2824G>A (p.Val942Ile) c.2719G>A (p.Val907Ile) c.2665G>A (p.Val889Ile) c.2743G>A (p.Val915Ile) c.2494G>A (p.Val832Ile) c.2725G>A (p.Val909Ile) c.1651G>A (p.Val551Ile) n.2706G>A | |
1 | g.151406185T>A | CA420910047 | POGZ | c.2898A>T (p.Pro966=) c.2691A>T (p.Pro897=) c.2850A>T (p.Pro950=) c.2871A>T (p.Pro957=) n.2998A>T c.2565A>T (p.Pro855=) c.2823A>T (p.Pro941=) c.2718A>T (p.Pro906=) c.2664A>T (p.Pro888=) c.2742A>T (p.Pro914=) c.2493A>T (p.Pro831=) c.2724A>T (p.Pro908=) c.1650A>T (p.Pro550=) n.2705A>T | dbSNP gnomAD v2 gnomAD v4 |
1 | g.151406185T>C | CA420910048 | POGZ | c.2898A>G (p.Pro966=) c.2691A>G (p.Pro897=) c.2850A>G (p.Pro950=) c.2871A>G (p.Pro957=) n.2998A>G c.2565A>G (p.Pro855=) c.2823A>G (p.Pro941=) c.2718A>G (p.Pro906=) c.2664A>G (p.Pro888=) c.2742A>G (p.Pro914=) c.2493A>G (p.Pro831=) c.2724A>G (p.Pro908=) c.1650A>G (p.Pro550=) n.2705A>G | gnomAD v4 |
1 | g.151406185T>G | CA420910049 | POGZ | c.2898A>C (p.Pro966=) c.2691A>C (p.Pro897=) c.2850A>C (p.Pro950=) c.2871A>C (p.Pro957=) n.2998A>C c.2565A>C (p.Pro855=) c.2823A>C (p.Pro941=) c.2718A>C (p.Pro906=) c.2664A>C (p.Pro888=) c.2742A>C (p.Pro914=) c.2493A>C (p.Pro831=) c.2724A>C (p.Pro908=) c.1650A>C (p.Pro550=) n.2705A>C | |
1 | g.151406185T= | CA2479570547 | POGZ | c.2898A= (p.Pro966=) c.2691A= (p.Pro897=) c.2850A= (p.Pro950=) c.2871A= (p.Pro957=) n.2998A= c.2565A= (p.Pro855=) c.2823A= (p.Pro941=) c.2718A= (p.Pro906=) c.2664A= (p.Pro888=) c.2742A= (p.Pro914=) c.2493A= (p.Pro831=) c.2724A= (p.Pro908=) c.1650A= (p.Pro550=) n.2705A= | |
1 | g.151406186G>A | CA341948234 | POGZ | c.2897C>T (p.Pro966Leu) c.2690C>T (p.Pro897Leu) c.2849C>T (p.Pro950Leu) c.2870C>T (p.Pro957Leu) n.2997C>T c.2564C>T (p.Pro855Leu) c.2822C>T (p.Pro941Leu) c.2717C>T (p.Pro906Leu) c.2663C>T (p.Pro888Leu) c.2741C>T (p.Pro914Leu) c.2492C>T (p.Pro831Leu) c.2723C>T (p.Pro908Leu) c.1649C>T (p.Pro550Leu) n.2704C>T | |
1 | g.151406186G>C | CA341948238 | POGZ | c.2897C>G (p.Pro966Arg) c.2690C>G (p.Pro897Arg) c.2849C>G (p.Pro950Arg) c.2870C>G (p.Pro957Arg) n.2997C>G c.2564C>G (p.Pro855Arg) c.2822C>G (p.Pro941Arg) c.2717C>G (p.Pro906Arg) c.2663C>G (p.Pro888Arg) c.2741C>G (p.Pro914Arg) c.2492C>G (p.Pro831Arg) c.2723C>G (p.Pro908Arg) c.1649C>G (p.Pro550Arg) n.2704C>G | |
1 | g.151406186G>T | CA341948240 | POGZ | c.2897C>A (p.Pro966Gln) c.2690C>A (p.Pro897Gln) c.2849C>A (p.Pro950Gln) c.2870C>A (p.Pro957Gln) n.2997C>A c.2564C>A (p.Pro855Gln) c.2822C>A (p.Pro941Gln) c.2717C>A (p.Pro906Gln) c.2663C>A (p.Pro888Gln) c.2741C>A (p.Pro914Gln) c.2492C>A (p.Pro831Gln) c.2723C>A (p.Pro908Gln) c.1649C>A (p.Pro550Gln) n.2704C>A | |
1 | g.151406188dup | CA1139656323 | POGZ | c.2897dup (p.Val967SerfsTer6) c.2690dup (p.Val898SerfsTer6) c.2849dup (p.Val951SerfsTer6) c.2870dup (p.Val958SerfsTer6) n.2997dup c.2564dup (p.Val856SerfsTer6) c.2822dup (p.Val942SerfsTer6) c.2717dup (p.Val907SerfsTer6) c.2663dup (p.Val889SerfsTer6) c.2741dup (p.Val915SerfsTer6) c.2492dup (p.Val832SerfsTer6) c.2723dup (p.Val909SerfsTer6) c.1649dup (p.Val551SerfsTer6) n.2704dup | ClinVar dbSNP |
1 | g.151406187G>A | CA341948254 | POGZ | c.2896C>T (p.Pro966Ser) c.2689C>T (p.Pro897Ser) c.2848C>T (p.Pro950Ser) c.2869C>T (p.Pro957Ser) n.2996C>T c.2563C>T (p.Pro855Ser) c.2821C>T (p.Pro941Ser) c.2716C>T (p.Pro906Ser) c.2662C>T (p.Pro888Ser) c.2740C>T (p.Pro914Ser) c.2491C>T (p.Pro831Ser) c.2722C>T (p.Pro908Ser) c.1648C>T (p.Pro550Ser) n.2703C>T | gnomAD v4 |
1 | g.151406187G>C | CA341948262 | POGZ | c.2896C>G (p.Pro966Ala) c.2689C>G (p.Pro897Ala) c.2848C>G (p.Pro950Ala) c.2869C>G (p.Pro957Ala) n.2996C>G c.2563C>G (p.Pro855Ala) c.2821C>G (p.Pro941Ala) c.2716C>G (p.Pro906Ala) c.2662C>G (p.Pro888Ala) c.2740C>G (p.Pro914Ala) c.2491C>G (p.Pro831Ala) c.2722C>G (p.Pro908Ala) c.1648C>G (p.Pro550Ala) n.2703C>G | |
1 | g.151406187G= | CA2479570548 | POGZ | c.2896C= (p.Pro966=) c.2689C= (p.Pro897=) c.2848C= (p.Pro950=) c.2869C= (p.Pro957=) n.2996C= c.2563C= (p.Pro855=) c.2821C= (p.Pro941=) c.2716C= (p.Pro906=) c.2662C= (p.Pro888=) c.2740C= (p.Pro914=) c.2491C= (p.Pro831=) c.2722C= (p.Pro908=) c.1648C= (p.Pro550=) n.2703C= | |
1 | g.151406187G>T | CA1091051 | POGZ | c.2896C>A (p.Pro966Thr) c.2689C>A (p.Pro897Thr) c.2848C>A (p.Pro950Thr) c.2869C>A (p.Pro957Thr) n.2996C>A c.2563C>A (p.Pro855Thr) c.2821C>A (p.Pro941Thr) c.2716C>A (p.Pro906Thr) c.2662C>A (p.Pro888Thr) c.2740C>A (p.Pro914Thr) c.2491C>A (p.Pro831Thr) c.2722C>A (p.Pro908Thr) c.1648C>A (p.Pro550Thr) n.2703C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.151406188G>A | CA420910053 | POGZ | c.2895C>T (p.Ser965=) c.2688C>T (p.Ser896=) c.2847C>T (p.Ser949=) c.2868C>T (p.Ser956=) n.2995C>T c.2562C>T (p.Ser854=) c.2820C>T (p.Ser940=) c.2715C>T (p.Ser905=) c.2661C>T (p.Ser887=) c.2739C>T (p.Ser913=) c.2490C>T (p.Ser830=) c.2721C>T (p.Ser907=) c.1647C>T (p.Ser549=) n.2702C>T | dbSNP gnomAD v2 gnomAD v4 |
1 | g.151406188G>C | CA341948269 | POGZ | c.2895C>G (p.Ser965Arg) c.2688C>G (p.Ser896Arg) c.2847C>G (p.Ser949Arg) c.2868C>G (p.Ser956Arg) n.2995C>G c.2562C>G (p.Ser854Arg) c.2820C>G (p.Ser940Arg) c.2715C>G (p.Ser905Arg) c.2661C>G (p.Ser887Arg) c.2739C>G (p.Ser913Arg) c.2490C>G (p.Ser830Arg) c.2721C>G (p.Ser907Arg) c.1647C>G (p.Ser549Arg) n.2702C>G | dbSNP gnomAD v3 gnomAD v4 |
1 | g.151406188G= | CA2479570549 | POGZ | c.2895C= (p.Ser965=) c.2688C= (p.Ser896=) c.2847C= (p.Ser949=) c.2868C= (p.Ser956=) n.2995C= c.2562C= (p.Ser854=) c.2820C= (p.Ser940=) c.2715C= (p.Ser905=) c.2661C= (p.Ser887=) c.2739C= (p.Ser913=) c.2490C= (p.Ser830=) c.2721C= (p.Ser907=) c.1647C= (p.Ser549=) n.2702C= | |
1 | g.151406188G>T | CA341948275 | POGZ | c.2895C>A (p.Ser965Arg) c.2688C>A (p.Ser896Arg) c.2847C>A (p.Ser949Arg) c.2868C>A (p.Ser956Arg) n.2995C>A c.2562C>A (p.Ser854Arg) c.2820C>A (p.Ser940Arg) c.2715C>A (p.Ser905Arg) c.2661C>A (p.Ser887Arg) c.2739C>A (p.Ser913Arg) c.2490C>A (p.Ser830Arg) c.2721C>A (p.Ser907Arg) c.1647C>A (p.Ser549Arg) n.2702C>A | |
1 | g.151406189C>A | CA341948279 | POGZ | c.2894G>T (p.Ser965Ile) c.2687G>T (p.Ser896Ile) c.2846G>T (p.Ser949Ile) c.2867G>T (p.Ser956Ile) n.2994G>T c.2561G>T (p.Ser854Ile) c.2819G>T (p.Ser940Ile) c.2714G>T (p.Ser905Ile) c.2660G>T (p.Ser887Ile) c.2738G>T (p.Ser913Ile) c.2489G>T (p.Ser830Ile) c.2720G>T (p.Ser907Ile) c.1646G>T (p.Ser549Ile) n.2701G>T | |
1 | g.151406189C>G | CA341948283 | POGZ | c.2894G>C (p.Ser965Thr) c.2687G>C (p.Ser896Thr) c.2846G>C (p.Ser949Thr) c.2867G>C (p.Ser956Thr) n.2994G>C c.2561G>C (p.Ser854Thr) c.2819G>C (p.Ser940Thr) c.2714G>C (p.Ser905Thr) c.2660G>C (p.Ser887Thr) c.2738G>C (p.Ser913Thr) c.2489G>C (p.Ser830Thr) c.2720G>C (p.Ser907Thr) c.1646G>C (p.Ser549Thr) n.2701G>C | |
1 | g.151406189C>T | CA341948286 | POGZ | c.2894G>A (p.Ser965Asn) c.2687G>A (p.Ser896Asn) c.2846G>A (p.Ser949Asn) c.2867G>A (p.Ser956Asn) n.2994G>A c.2561G>A (p.Ser854Asn) c.2819G>A (p.Ser940Asn) c.2714G>A (p.Ser905Asn) c.2660G>A (p.Ser887Asn) c.2738G>A (p.Ser913Asn) c.2489G>A (p.Ser830Asn) c.2720G>A (p.Ser907Asn) c.1646G>A (p.Ser549Asn) n.2701G>A | |
1 | g.151406190T>A | CA341948294 | POGZ | c.2893A>T (p.Ser965Cys) c.2686A>T (p.Ser896Cys) c.2845A>T (p.Ser949Cys) c.2866A>T (p.Ser956Cys) n.2993A>T c.2560A>T (p.Ser854Cys) c.2818A>T (p.Ser940Cys) c.2713A>T (p.Ser905Cys) c.2659A>T (p.Ser887Cys) c.2737A>T (p.Ser913Cys) c.2488A>T (p.Ser830Cys) c.2719A>T (p.Ser907Cys) c.1645A>T (p.Ser549Cys) n.2700A>T | |
1 | g.151406190T>C | CA341948297 | POGZ | c.2893A>G (p.Ser965Gly) c.2686A>G (p.Ser896Gly) c.2845A>G (p.Ser949Gly) c.2866A>G (p.Ser956Gly) n.2993A>G c.2560A>G (p.Ser854Gly) c.2818A>G (p.Ser940Gly) c.2713A>G (p.Ser905Gly) c.2659A>G (p.Ser887Gly) c.2737A>G (p.Ser913Gly) c.2488A>G (p.Ser830Gly) c.2719A>G (p.Ser907Gly) c.1645A>G (p.Ser549Gly) n.2700A>G | |
1 | g.151406190T>G | CA341948301 | POGZ | c.2893A>C (p.Ser965Arg) c.2686A>C (p.Ser896Arg) c.2845A>C (p.Ser949Arg) c.2866A>C (p.Ser956Arg) n.2993A>C c.2560A>C (p.Ser854Arg) c.2818A>C (p.Ser940Arg) c.2713A>C (p.Ser905Arg) c.2659A>C (p.Ser887Arg) c.2737A>C (p.Ser913Arg) c.2488A>C (p.Ser830Arg) c.2719A>C (p.Ser907Arg) c.1645A>C (p.Ser549Arg) n.2700A>C | |
1 | g.151406191C>A | CA420910058 | POGZ | c.2892G>T (p.Gly964=) c.2685G>T (p.Gly895=) c.2844G>T (p.Gly948=) c.2865G>T (p.Gly955=) n.2992G>T c.2559G>T (p.Gly853=) c.2817G>T (p.Gly939=) c.2712G>T (p.Gly904=) c.2658G>T (p.Gly886=) c.2736G>T (p.Gly912=) c.2487G>T (p.Gly829=) c.2718G>T (p.Gly906=) c.1644G>T (p.Gly548=) n.2699G>T | |
1 | g.151406191C= | CA2479570550 | POGZ | c.2892G= (p.Gly964=) c.2685G= (p.Gly895=) c.2844G= (p.Gly948=) c.2865G= (p.Gly955=) n.2992G= c.2559G= (p.Gly853=) c.2817G= (p.Gly939=) c.2712G= (p.Gly904=) c.2658G= (p.Gly886=) c.2736G= (p.Gly912=) c.2487G= (p.Gly829=) c.2718G= (p.Gly906=) c.1644G= (p.Gly548=) n.2699G= | |
1 | g.151406191C>G | CA420910057 | POGZ | c.2892G>C (p.Gly964=) c.2685G>C (p.Gly895=) c.2844G>C (p.Gly948=) c.2865G>C (p.Gly955=) n.2992G>C c.2559G>C (p.Gly853=) c.2817G>C (p.Gly939=) c.2712G>C (p.Gly904=) c.2658G>C (p.Gly886=) c.2736G>C (p.Gly912=) c.2487G>C (p.Gly829=) c.2718G>C (p.Gly906=) c.1644G>C (p.Gly548=) n.2699G>C | dbSNP |
1 | g.151406191C>T | CA420910056 | POGZ | c.2892G>A (p.Gly964=) c.2685G>A (p.Gly895=) c.2844G>A (p.Gly948=) c.2865G>A (p.Gly955=) n.2992G>A c.2559G>A (p.Gly853=) c.2817G>A (p.Gly939=) c.2712G>A (p.Gly904=) c.2658G>A (p.Gly886=) c.2736G>A (p.Gly912=) c.2487G>A (p.Gly829=) c.2718G>A (p.Gly906=) c.1644G>A (p.Gly548=) n.2699G>A | |
1 | g.151406192C>A | CA341948314 | POGZ | c.2891G>T (p.Gly964Val) c.2684G>T (p.Gly895Val) c.2843G>T (p.Gly948Val) c.2864G>T (p.Gly955Val) n.2991G>T c.2558G>T (p.Gly853Val) c.2816G>T (p.Gly939Val) c.2711G>T (p.Gly904Val) c.2657G>T (p.Gly886Val) c.2735G>T (p.Gly912Val) c.2486G>T (p.Gly829Val) c.2717G>T (p.Gly906Val) c.1643G>T (p.Gly548Val) n.2698G>T | |
1 | g.151406192C>G | CA341948308 | POGZ | c.2891G>C (p.Gly964Ala) c.2684G>C (p.Gly895Ala) c.2843G>C (p.Gly948Ala) c.2864G>C (p.Gly955Ala) n.2991G>C c.2558G>C (p.Gly853Ala) c.2816G>C (p.Gly939Ala) c.2711G>C (p.Gly904Ala) c.2657G>C (p.Gly886Ala) c.2735G>C (p.Gly912Ala) c.2486G>C (p.Gly829Ala) c.2717G>C (p.Gly906Ala) c.1643G>C (p.Gly548Ala) n.2698G>C | |
1 | g.151406192C>T | CA341948311 | POGZ | c.2891G>A (p.Gly964Glu) c.2684G>A (p.Gly895Glu) c.2843G>A (p.Gly948Glu) c.2864G>A (p.Gly955Glu) n.2991G>A c.2558G>A (p.Gly853Glu) c.2816G>A (p.Gly939Glu) c.2711G>A (p.Gly904Glu) c.2657G>A (p.Gly886Glu) c.2735G>A (p.Gly912Glu) c.2486G>A (p.Gly829Glu) c.2717G>A (p.Gly906Glu) c.1643G>A (p.Gly548Glu) n.2698G>A | |
1 | g.151406193C>A | CA341948319 | POGZ | c.2890G>T (p.Gly964Trp) c.2683G>T (p.Gly895Trp) c.2842G>T (p.Gly948Trp) c.2863G>T (p.Gly955Trp) n.2990G>T c.2557G>T (p.Gly853Trp) c.2815G>T (p.Gly939Trp) c.2710G>T (p.Gly904Trp) c.2656G>T (p.Gly886Trp) c.2734G>T (p.Gly912Trp) c.2485G>T (p.Gly829Trp) c.2716G>T (p.Gly906Trp) c.1642G>T (p.Gly548Trp) n.2697G>T | |
1 | g.151406193C>G | CA341948321 | POGZ | c.2890G>C (p.Gly964Arg) c.2683G>C (p.Gly895Arg) c.2842G>C (p.Gly948Arg) c.2863G>C (p.Gly955Arg) n.2990G>C c.2557G>C (p.Gly853Arg) c.2815G>C (p.Gly939Arg) c.2710G>C (p.Gly904Arg) c.2656G>C (p.Gly886Arg) c.2734G>C (p.Gly912Arg) c.2485G>C (p.Gly829Arg) c.2716G>C (p.Gly906Arg) c.1642G>C (p.Gly548Arg) n.2697G>C | |
1 | g.151406193C>T | CA341948324 | POGZ | c.2890G>A (p.Gly964Arg) c.2683G>A (p.Gly895Arg) c.2842G>A (p.Gly948Arg) c.2863G>A (p.Gly955Arg) n.2990G>A c.2557G>A (p.Gly853Arg) c.2815G>A (p.Gly939Arg) c.2710G>A (p.Gly904Arg) c.2656G>A (p.Gly886Arg) c.2734G>A (p.Gly912Arg) c.2485G>A (p.Gly829Arg) c.2716G>A (p.Gly906Arg) c.1642G>A (p.Gly548Arg) n.2697G>A | |
1 | g.151406194T>A | CA341948329 | POGZ | c.2889A>T (p.Glu963Asp) c.2682A>T (p.Glu894Asp) c.2841A>T (p.Glu947Asp) c.2862A>T (p.Glu954Asp) n.2989A>T c.2556A>T (p.Glu852Asp) c.2814A>T (p.Glu938Asp) c.2709A>T (p.Glu903Asp) c.2655A>T (p.Glu885Asp) c.2733A>T (p.Glu911Asp) c.2484A>T (p.Glu828Asp) c.2715A>T (p.Glu905Asp) c.1641A>T (p.Glu547Asp) n.2696A>T | |
1 | g.151406194T>C | CA420910061 | POGZ | c.2889A>G (p.Glu963=) c.2682A>G (p.Glu894=) c.2841A>G (p.Glu947=) c.2862A>G (p.Glu954=) n.2989A>G c.2556A>G (p.Glu852=) c.2814A>G (p.Glu938=) c.2709A>G (p.Glu903=) c.2655A>G (p.Glu885=) c.2733A>G (p.Glu911=) c.2484A>G (p.Glu828=) c.2715A>G (p.Glu905=) c.1641A>G (p.Glu547=) n.2696A>G | gnomAD v4 |
1 | g.151406194T>G | CA341948334 | POGZ | c.2889A>C (p.Glu963Asp) c.2682A>C (p.Glu894Asp) c.2841A>C (p.Glu947Asp) c.2862A>C (p.Glu954Asp) n.2989A>C c.2556A>C (p.Glu852Asp) c.2814A>C (p.Glu938Asp) c.2709A>C (p.Glu903Asp) c.2655A>C (p.Glu885Asp) c.2733A>C (p.Glu911Asp) c.2484A>C (p.Glu828Asp) c.2715A>C (p.Glu905Asp) c.1641A>C (p.Glu547Asp) n.2696A>C | |
1 | g.151406195T>A | CA341948346 | POGZ | c.2888A>T (p.Glu963Val) c.2681A>T (p.Glu894Val) c.2840A>T (p.Glu947Val) c.2861A>T (p.Glu954Val) n.2988A>T c.2555A>T (p.Glu852Val) c.2813A>T (p.Glu938Val) c.2708A>T (p.Glu903Val) c.2654A>T (p.Glu885Val) c.2732A>T (p.Glu911Val) c.2483A>T (p.Glu828Val) c.2714A>T (p.Glu905Val) c.1640A>T (p.Glu547Val) n.2695A>T | |
1 | g.151406195T>C | CA341948339 | POGZ | c.2888A>G (p.Glu963Gly) c.2681A>G (p.Glu894Gly) c.2840A>G (p.Glu947Gly) c.2861A>G (p.Glu954Gly) n.2988A>G c.2555A>G (p.Glu852Gly) c.2813A>G (p.Glu938Gly) c.2708A>G (p.Glu903Gly) c.2654A>G (p.Glu885Gly) c.2732A>G (p.Glu911Gly) c.2483A>G (p.Glu828Gly) c.2714A>G (p.Glu905Gly) c.1640A>G (p.Glu547Gly) n.2695A>G | |
1 | g.151406195T>G | CA341948343 | POGZ | c.2888A>C (p.Glu963Ala) c.2681A>C (p.Glu894Ala) c.2840A>C (p.Glu947Ala) c.2861A>C (p.Glu954Ala) n.2988A>C c.2555A>C (p.Glu852Ala) c.2813A>C (p.Glu938Ala) c.2708A>C (p.Glu903Ala) c.2654A>C (p.Glu885Ala) c.2732A>C (p.Glu911Ala) c.2483A>C (p.Glu828Ala) c.2714A>C (p.Glu905Ala) c.1640A>C (p.Glu547Ala) n.2695A>C | |
1 | g.151406196C>A | CA341948353 | POGZ | c.2887G>T (p.Glu963Ter) c.2680G>T (p.Glu894Ter) c.2839G>T (p.Glu947Ter) c.2860G>T (p.Glu954Ter) n.2987G>T c.2554G>T (p.Glu852Ter) c.2812G>T (p.Glu938Ter) c.2707G>T (p.Glu903Ter) c.2653G>T (p.Glu885Ter) c.2731G>T (p.Glu911Ter) c.2482G>T (p.Glu828Ter) c.2713G>T (p.Glu905Ter) c.1639G>T (p.Glu547Ter) n.2694G>T | |
1 | g.151406196C>G | CA341948355 | POGZ | c.2887G>C (p.Glu963Gln) c.2680G>C (p.Glu894Gln) c.2839G>C (p.Glu947Gln) c.2860G>C (p.Glu954Gln) n.2987G>C c.2554G>C (p.Glu852Gln) c.2812G>C (p.Glu938Gln) c.2707G>C (p.Glu903Gln) c.2653G>C (p.Glu885Gln) c.2731G>C (p.Glu911Gln) c.2482G>C (p.Glu828Gln) c.2713G>C (p.Glu905Gln) c.1639G>C (p.Glu547Gln) n.2694G>C | |
1 | g.151406196C>T | CA341948357 | POGZ | c.2887G>A (p.Glu963Lys) c.2680G>A (p.Glu894Lys) c.2839G>A (p.Glu947Lys) c.2860G>A (p.Glu954Lys) n.2987G>A c.2554G>A (p.Glu852Lys) c.2812G>A (p.Glu938Lys) c.2707G>A (p.Glu903Lys) c.2653G>A (p.Glu885Lys) c.2731G>A (p.Glu911Lys) c.2482G>A (p.Glu828Lys) c.2713G>A (p.Glu905Lys) c.1639G>A (p.Glu547Lys) n.2694G>A | |
1 | g.151406197A>C | CA341948370 | POGZ | c.2886T>G (p.Asp962Glu) c.2679T>G (p.Asp893Glu) c.2838T>G (p.Asp946Glu) c.2859T>G (p.Asp953Glu) n.2986T>G c.2553T>G (p.Asp851Glu) c.2811T>G (p.Asp937Glu) c.2706T>G (p.Asp902Glu) c.2652T>G (p.Asp884Glu) c.2730T>G (p.Asp910Glu) c.2481T>G (p.Asp827Glu) c.2712T>G (p.Asp904Glu) c.1638T>G (p.Asp546Glu) n.2693T>G | |
1 | g.151406197A>G | CA420910065 | POGZ | c.2886T>C (p.Asp962=) c.2679T>C (p.Asp893=) c.2838T>C (p.Asp946=) c.2859T>C (p.Asp953=) n.2986T>C c.2553T>C (p.Asp851=) c.2811T>C (p.Asp937=) c.2706T>C (p.Asp902=) c.2652T>C (p.Asp884=) c.2730T>C (p.Asp910=) c.2481T>C (p.Asp827=) c.2712T>C (p.Asp904=) c.1638T>C (p.Asp546=) n.2693T>C | gnomAD v4 |
1 | g.151406197A>T | CA341948374 | POGZ | c.2886T>A (p.Asp962Glu) c.2679T>A (p.Asp893Glu) c.2838T>A (p.Asp946Glu) c.2859T>A (p.Asp953Glu) n.2986T>A c.2553T>A (p.Asp851Glu) c.2811T>A (p.Asp937Glu) c.2706T>A (p.Asp902Glu) c.2652T>A (p.Asp884Glu) c.2730T>A (p.Asp910Glu) c.2481T>A (p.Asp827Glu) c.2712T>A (p.Asp904Glu) c.1638T>A (p.Asp546Glu) n.2693T>A | |
1 | g.151406198T>A | CA341948375 | POGZ | c.2885A>T (p.Asp962Val) c.2678A>T (p.Asp893Val) c.2837A>T (p.Asp946Val) c.2858A>T (p.Asp953Val) n.2985A>T c.2552A>T (p.Asp851Val) c.2810A>T (p.Asp937Val) c.2705A>T (p.Asp902Val) c.2651A>T (p.Asp884Val) c.2729A>T (p.Asp910Val) c.2480A>T (p.Asp827Val) c.2711A>T (p.Asp904Val) c.1637A>T (p.Asp546Val) n.2692A>T | gnomAD v4 |
1 | g.151406198T>C | CA341948376 | POGZ | c.2885A>G (p.Asp962Gly) c.2678A>G (p.Asp893Gly) c.2837A>G (p.Asp946Gly) c.2858A>G (p.Asp953Gly) n.2985A>G c.2552A>G (p.Asp851Gly) c.2810A>G (p.Asp937Gly) c.2705A>G (p.Asp902Gly) c.2651A>G (p.Asp884Gly) c.2729A>G (p.Asp910Gly) c.2480A>G (p.Asp827Gly) c.2711A>G (p.Asp904Gly) c.1637A>G (p.Asp546Gly) n.2692A>G | |
1 | g.151406198T>G | CA341948379 | POGZ | c.2885A>C (p.Asp962Ala) c.2678A>C (p.Asp893Ala) c.2837A>C (p.Asp946Ala) c.2858A>C (p.Asp953Ala) n.2985A>C c.2552A>C (p.Asp851Ala) c.2810A>C (p.Asp937Ala) c.2705A>C (p.Asp902Ala) c.2651A>C (p.Asp884Ala) c.2729A>C (p.Asp910Ala) c.2480A>C (p.Asp827Ala) c.2711A>C (p.Asp904Ala) c.1637A>C (p.Asp546Ala) n.2692A>C | |
1 | g.151406198_151406199delinsTC | CA2479570551 | POGZ | c.2884_2885delinsGA (p.Asp962=) c.2677_2678delinsGA (p.Asp893=) c.2836_2837delinsGA (p.Asp946=) c.2857_2858delinsGA (p.Asp953=) n.2984_2985delinsGA c.2551_2552delinsGA (p.Asp851=) c.2809_2810delinsGA (p.Asp937=) c.2704_2705delinsGA (p.Asp902=) c.2650_2651delinsGA (p.Asp884=) c.2728_2729delinsGA (p.Asp910=) c.2479_2480delinsGA (p.Asp827=) c.2710_2711delinsGA (p.Asp904=) c.1636_1637delinsGA (p.Asp546=) n.2691_2692delinsGA | |
1 | g.151406199C>A | CA341948383 | POGZ | c.2884G>T (p.Asp962Tyr) c.2677G>T (p.Asp893Tyr) c.2836G>T (p.Asp946Tyr) c.2857G>T (p.Asp953Tyr) n.2984G>T c.2551G>T (p.Asp851Tyr) c.2809G>T (p.Asp937Tyr) c.2704G>T (p.Asp902Tyr) c.2650G>T (p.Asp884Tyr) c.2728G>T (p.Asp910Tyr) c.2479G>T (p.Asp827Tyr) c.2710G>T (p.Asp904Tyr) c.1636G>T (p.Asp546Tyr) n.2691G>T | |
1 | g.151406199C= | CA1145446737 | POGZ | c.2884G= (p.Asp962=) c.2677G= (p.Asp893=) c.2836G= (p.Asp946=) c.2857G= (p.Asp953=) n.2984G= c.2551G= (p.Asp851=) c.2809G= (p.Asp937=) c.2704G= (p.Asp902=) c.2650G= (p.Asp884=) c.2728G= (p.Asp910=) c.2479G= (p.Asp827=) c.2710G= (p.Asp904=) c.1636G= (p.Asp546=) n.2691G= | |
1 | g.151406199C>G | CA341948384 | POGZ | c.2884G>C (p.Asp962His) c.2677G>C (p.Asp893His) c.2836G>C (p.Asp946His) c.2857G>C (p.Asp953His) n.2984G>C c.2551G>C (p.Asp851His) c.2809G>C (p.Asp937His) c.2704G>C (p.Asp902His) c.2650G>C (p.Asp884His) c.2728G>C (p.Asp910His) c.2479G>C (p.Asp827His) c.2710G>C (p.Asp904His) c.1636G>C (p.Asp546His) n.2691G>C | |
1 | g.151406199C>T | CA1091052 | POGZ | c.2884G>A (p.Asp962Asn) c.2677G>A (p.Asp893Asn) c.2836G>A (p.Asp946Asn) c.2857G>A (p.Asp953Asn) n.2984G>A c.2551G>A (p.Asp851Asn) c.2809G>A (p.Asp937Asn) c.2704G>A (p.Asp902Asn) c.2650G>A (p.Asp884Asn) c.2728G>A (p.Asp910Asn) c.2479G>A (p.Asp827Asn) c.2710G>A (p.Asp904Asn) c.1636G>A (p.Asp546Asn) n.2691G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.151406200del | CA915941412 | POGZ | c.2884del (p.Asp962MetfsTer12) c.2677del (p.Asp893MetfsTer12) c.2836del (p.Asp946MetfsTer12) c.2857del (p.Asp953MetfsTer12) n.2984del c.2551del (p.Asp851MetfsTer12) c.2809del (p.Asp937MetfsTer12) c.2704del (p.Asp902MetfsTer12) c.2650del (p.Asp884MetfsTer12) c.2728del (p.Asp910MetfsTer12) c.2479del (p.Asp827MetfsTer12) c.2710del (p.Asp904MetfsTer12) c.1636del (p.Asp546MetfsTer12) n.2691del | ClinVar dbSNP |
1 | g.151406200C>A | CA341948387 | POGZ | c.2883G>T (p.Gln961His) c.2676G>T (p.Gln892His) c.2835G>T (p.Gln945His) c.2856G>T (p.Gln952His) n.2983G>T c.2550G>T (p.Gln850His) c.2808G>T (p.Gln936His) c.2703G>T (p.Gln901His) c.2649G>T (p.Gln883His) c.2727G>T (p.Gln909His) c.2478G>T (p.Gln826His) c.2709G>T (p.Gln903His) c.1635G>T (p.Gln545His) n.2690G>T | |
1 | g.151406200C= | CA2479570552 | POGZ | c.2883G= (p.Gln961=) c.2676G= (p.Gln892=) c.2835G= (p.Gln945=) c.2856G= (p.Gln952=) n.2983G= c.2550G= (p.Gln850=) c.2808G= (p.Gln936=) c.2703G= (p.Gln901=) c.2649G= (p.Gln883=) c.2727G= (p.Gln909=) c.2478G= (p.Gln826=) c.2709G= (p.Gln903=) c.1635G= (p.Gln545=) n.2690G= | |
1 | g.151406200C>G | CA1091053 | POGZ | c.2883G>C (p.Gln961His) c.2676G>C (p.Gln892His) c.2835G>C (p.Gln945His) c.2856G>C (p.Gln952His) n.2983G>C c.2550G>C (p.Gln850His) c.2808G>C (p.Gln936His) c.2703G>C (p.Gln901His) c.2649G>C (p.Gln883His) c.2727G>C (p.Gln909His) c.2478G>C (p.Gln826His) c.2709G>C (p.Gln903His) c.1635G>C (p.Gln545His) n.2690G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.151406200C>T | CA420910070 | POGZ | c.2883G>A (p.Gln961=) c.2676G>A (p.Gln892=) c.2835G>A (p.Gln945=) c.2856G>A (p.Gln952=) n.2983G>A c.2550G>A (p.Gln850=) c.2808G>A (p.Gln936=) c.2703G>A (p.Gln901=) c.2649G>A (p.Gln883=) c.2727G>A (p.Gln909=) c.2478G>A (p.Gln826=) c.2709G>A (p.Gln903=) c.1635G>A (p.Gln545=) n.2690G>A | gnomAD v4 |
1 | g.151406201T>A | CA341948393 | POGZ | c.2882A>T (p.Gln961Leu) c.2675A>T (p.Gln892Leu) c.2834A>T (p.Gln945Leu) c.2855A>T (p.Gln952Leu) n.2982A>T c.2549A>T (p.Gln850Leu) c.2807A>T (p.Gln936Leu) c.2702A>T (p.Gln901Leu) c.2648A>T (p.Gln883Leu) c.2726A>T (p.Gln909Leu) c.2477A>T (p.Gln826Leu) c.2708A>T (p.Gln903Leu) c.1634A>T (p.Gln545Leu) n.2689A>T | |
1 | g.151406201T>C | CA341948403 | POGZ | c.2882A>G (p.Gln961Arg) c.2675A>G (p.Gln892Arg) c.2834A>G (p.Gln945Arg) c.2855A>G (p.Gln952Arg) n.2982A>G c.2549A>G (p.Gln850Arg) c.2807A>G (p.Gln936Arg) c.2702A>G (p.Gln901Arg) c.2648A>G (p.Gln883Arg) c.2726A>G (p.Gln909Arg) c.2477A>G (p.Gln826Arg) c.2708A>G (p.Gln903Arg) c.1634A>G (p.Gln545Arg) n.2689A>G | |
1 | g.151406201T>G | CA341948399 | POGZ | c.2882A>C (p.Gln961Pro) c.2675A>C (p.Gln892Pro) c.2834A>C (p.Gln945Pro) c.2855A>C (p.Gln952Pro) n.2982A>C c.2549A>C (p.Gln850Pro) c.2807A>C (p.Gln936Pro) c.2702A>C (p.Gln901Pro) c.2648A>C (p.Gln883Pro) c.2726A>C (p.Gln909Pro) c.2477A>C (p.Gln826Pro) c.2708A>C (p.Gln903Pro) c.1634A>C (p.Gln545Pro) n.2689A>C | |
1 | g.151406202G>A | CA341948404 | POGZ | c.2881C>T (p.Gln961Ter) c.2674C>T (p.Gln892Ter) c.2833C>T (p.Gln945Ter) c.2854C>T (p.Gln952Ter) n.2981C>T c.2548C>T (p.Gln850Ter) c.2806C>T (p.Gln936Ter) c.2701C>T (p.Gln901Ter) c.2647C>T (p.Gln883Ter) c.2725C>T (p.Gln909Ter) c.2476C>T (p.Gln826Ter) c.2707C>T (p.Gln903Ter) c.1633C>T (p.Gln545Ter) n.2688C>T | |
1 | g.151406202G>C | CA1091055 | POGZ | c.2881C>G (p.Gln961Glu) c.2674C>G (p.Gln892Glu) c.2833C>G (p.Gln945Glu) c.2854C>G (p.Gln952Glu) n.2981C>G c.2548C>G (p.Gln850Glu) c.2806C>G (p.Gln936Glu) c.2701C>G (p.Gln901Glu) c.2647C>G (p.Gln883Glu) c.2725C>G (p.Gln909Glu) c.2476C>G (p.Gln826Glu) c.2707C>G (p.Gln903Glu) c.1633C>G (p.Gln545Glu) n.2688C>G | dbSNP ExAC gnomAD v2 |
1 | g.151406202G= | CA2479570553 | POGZ | c.2881C= (p.Gln961=) c.2674C= (p.Gln892=) c.2833C= (p.Gln945=) c.2854C= (p.Gln952=) n.2981C= c.2548C= (p.Gln850=) c.2806C= (p.Gln936=) c.2701C= (p.Gln901=) c.2647C= (p.Gln883=) c.2725C= (p.Gln909=) c.2476C= (p.Gln826=) c.2707C= (p.Gln903=) c.1633C= (p.Gln545=) n.2688C= | |
1 | g.151406202G>T | CA1091054 | POGZ | c.2881C>A (p.Gln961Lys) c.2674C>A (p.Gln892Lys) c.2833C>A (p.Gln945Lys) c.2854C>A (p.Gln952Lys) n.2981C>A c.2548C>A (p.Gln850Lys) c.2806C>A (p.Gln936Lys) c.2701C>A (p.Gln901Lys) c.2647C>A (p.Gln883Lys) c.2725C>A (p.Gln909Lys) c.2476C>A (p.Gln826Lys) c.2707C>A (p.Gln903Lys) c.1633C>A (p.Gln545Lys) n.2688C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.151406203A= | CA2479570554 | POGZ | c.2880T= (p.Asp960=) c.2673T= (p.Asp891=) c.2832T= (p.Asp944=) c.2853T= (p.Asp951=) n.2980T= c.2547T= (p.Asp849=) c.2805T= (p.Asp935=) c.2700T= (p.Asp900=) c.2646T= (p.Asp882=) c.2724T= (p.Asp908=) c.2475T= (p.Asp825=) c.2706T= (p.Asp902=) c.1632T= (p.Asp544=) n.2687T= | |
1 | g.151406203A>C | CA341948409 | POGZ | c.2880T>G (p.Asp960Glu) c.2673T>G (p.Asp891Glu) c.2832T>G (p.Asp944Glu) c.2853T>G (p.Asp951Glu) n.2980T>G c.2547T>G (p.Asp849Glu) c.2805T>G (p.Asp935Glu) c.2700T>G (p.Asp900Glu) c.2646T>G (p.Asp882Glu) c.2724T>G (p.Asp908Glu) c.2475T>G (p.Asp825Glu) c.2706T>G (p.Asp902Glu) c.1632T>G (p.Asp544Glu) n.2687T>G | |
1 | g.151406203A>G | CA420910077 | POGZ | c.2880T>C (p.Asp960=) c.2673T>C (p.Asp891=) c.2832T>C (p.Asp944=) c.2853T>C (p.Asp951=) n.2980T>C c.2547T>C (p.Asp849=) c.2805T>C (p.Asp935=) c.2700T>C (p.Asp900=) c.2646T>C (p.Asp882=) c.2724T>C (p.Asp908=) c.2475T>C (p.Asp825=) c.2706T>C (p.Asp902=) c.1632T>C (p.Asp544=) n.2687T>C | dbSNP gnomAD v3 gnomAD v4 |
1 | g.151406203A>T | CA341948413 | POGZ | c.2880T>A (p.Asp960Glu) c.2673T>A (p.Asp891Glu) c.2832T>A (p.Asp944Glu) c.2853T>A (p.Asp951Glu) n.2980T>A c.2547T>A (p.Asp849Glu) c.2805T>A (p.Asp935Glu) c.2700T>A (p.Asp900Glu) c.2646T>A (p.Asp882Glu) c.2724T>A (p.Asp908Glu) c.2475T>A (p.Asp825Glu) c.2706T>A (p.Asp902Glu) c.1632T>A (p.Asp544Glu) n.2687T>A | gnomAD v4 COSMIC COSMIC |
1 | g.151406207_151406209del | CA2647920375 | POGZ | c.2878_2880del (p.Asp960del) c.2671_2673del (p.Asp891del) c.2830_2832del (p.Asp944del) c.2851_2853del (p.Asp951del) n.2978_2980del c.2545_2547del (p.Asp849del) c.2803_2805del (p.Asp935del) c.2698_2700del (p.Asp900del) c.2644_2646del (p.Asp882del) c.2722_2724del (p.Asp908del) c.2473_2475del (p.Asp825del) c.2704_2706del (p.Asp902del) c.1630_1632del (p.Asp544del) n.2685_2687del | gnomAD v4 |
1 | g.151406204T>A | CA341948420 | POGZ | c.2879A>T (p.Asp960Val) c.2672A>T (p.Asp891Val) c.2831A>T (p.Asp944Val) c.2852A>T (p.Asp951Val) n.2979A>T c.2546A>T (p.Asp849Val) c.2804A>T (p.Asp935Val) c.2699A>T (p.Asp900Val) c.2645A>T (p.Asp882Val) c.2723A>T (p.Asp908Val) c.2474A>T (p.Asp825Val) c.2705A>T (p.Asp902Val) c.1631A>T (p.Asp544Val) n.2686A>T | |
1 | g.151406204T>C | CA341948422 | POGZ | c.2879A>G (p.Asp960Gly) c.2672A>G (p.Asp891Gly) c.2831A>G (p.Asp944Gly) c.2852A>G (p.Asp951Gly) n.2979A>G c.2546A>G (p.Asp849Gly) c.2804A>G (p.Asp935Gly) c.2699A>G (p.Asp900Gly) c.2645A>G (p.Asp882Gly) c.2723A>G (p.Asp908Gly) c.2474A>G (p.Asp825Gly) c.2705A>G (p.Asp902Gly) c.1631A>G (p.Asp544Gly) n.2686A>G | |
1 | g.151406204T>G | CA341948425 | POGZ | c.2879A>C (p.Asp960Ala) c.2672A>C (p.Asp891Ala) c.2831A>C (p.Asp944Ala) c.2852A>C (p.Asp951Ala) n.2979A>C c.2546A>C (p.Asp849Ala) c.2804A>C (p.Asp935Ala) c.2699A>C (p.Asp900Ala) c.2645A>C (p.Asp882Ala) c.2723A>C (p.Asp908Ala) c.2474A>C (p.Asp825Ala) c.2705A>C (p.Asp902Ala) c.1631A>C (p.Asp544Ala) n.2686A>C | |
1 | g.151406204_151406218delinsTCATCAACATTCAGA | CA2479570555 | POGZ | c.2865_2879delinsTCTGAATGTTGATGA (p.Cys955=) c.2658_2672delinsTCTGAATGTTGATGA (p.Cys886=) c.2817_2831delinsTCTGAATGTTGATGA (p.Cys939=) c.2838_2852delinsTCTGAATGTTGATGA (p.Cys946=) n.2965_2979delinsTCTGAATGTTGATGA c.2532_2546delinsTCTGAATGTTGATGA (p.Cys844=) c.2790_2804delinsTCTGAATGTTGATGA (p.Cys930=) c.2685_2699delinsTCTGAATGTTGATGA (p.Cys895=) c.2631_2645delinsTCTGAATGTTGATGA (p.Cys877=) c.2709_2723delinsTCTGAATGTTGATGA (p.Cys903=) c.2460_2474delinsTCTGAATGTTGATGA (p.Cys820=) c.2691_2705delinsTCTGAATGTTGATGA (p.Cys897=) c.1617_1631delinsTCTGAATGTTGATGA (p.Cys539=) n.2672_2686delinsTCTGAATGTTGATGA | |
1 | g.151406205C>A | CA341948432 | POGZ | c.2878G>T (p.Asp960Tyr) c.2671G>T (p.Asp891Tyr) c.2830G>T (p.Asp944Tyr) c.2851G>T (p.Asp951Tyr) n.2978G>T c.2545G>T (p.Asp849Tyr) c.2803G>T (p.Asp935Tyr) c.2698G>T (p.Asp900Tyr) c.2644G>T (p.Asp882Tyr) c.2722G>T (p.Asp908Tyr) c.2473G>T (p.Asp825Tyr) c.2704G>T (p.Asp902Tyr) c.1630G>T (p.Asp544Tyr) n.2685G>T | |
1 | g.151406205C= | CA2479570556 | POGZ | c.2878G= (p.Asp960=) c.2671G= (p.Asp891=) c.2830G= (p.Asp944=) c.2851G= (p.Asp951=) n.2978G= c.2545G= (p.Asp849=) c.2803G= (p.Asp935=) c.2698G= (p.Asp900=) c.2644G= (p.Asp882=) c.2722G= (p.Asp908=) c.2473G= (p.Asp825=) c.2704G= (p.Asp902=) c.1630G= (p.Asp544=) n.2685G= | |
1 | g.151406205C>G | CA341948436 | POGZ | c.2878G>C (p.Asp960His) c.2671G>C (p.Asp891His) c.2830G>C (p.Asp944His) c.2851G>C (p.Asp951His) n.2978G>C c.2545G>C (p.Asp849His) c.2803G>C (p.Asp935His) c.2698G>C (p.Asp900His) c.2644G>C (p.Asp882His) c.2722G>C (p.Asp908His) c.2473G>C (p.Asp825His) c.2704G>C (p.Asp902His) c.1630G>C (p.Asp544His) n.2685G>C | |
1 | g.151406205C>T | CA341948441 | POGZ | c.2878G>A (p.Asp960Asn) c.2671G>A (p.Asp891Asn) c.2830G>A (p.Asp944Asn) c.2851G>A (p.Asp951Asn) n.2978G>A c.2545G>A (p.Asp849Asn) c.2803G>A (p.Asp935Asn) c.2698G>A (p.Asp900Asn) c.2644G>A (p.Asp882Asn) c.2722G>A (p.Asp908Asn) c.2473G>A (p.Asp825Asn) c.2704G>A (p.Asp902Asn) c.1630G>A (p.Asp544Asn) n.2685G>A | dbSNP |
1 | g.151406208_151406221del | CA658795514 | POGZ | c.2865_2878del (p.Cys955Ter) c.2658_2671del (p.Cys886Ter) c.2817_2830del (p.Cys939Ter) c.2838_2851del (p.Cys946Ter) n.2965_2978del c.2532_2545del (p.Cys844Ter) c.2790_2803del (p.Cys930Ter) c.2685_2698del (p.Cys895Ter) c.2631_2644del (p.Cys877Ter) c.2709_2722del (p.Cys903Ter) c.2460_2473del (p.Cys820Ter) c.2691_2704del (p.Cys897Ter) c.1617_1630del (p.Cys539Ter) n.2672_2685del | ClinVar dbSNP |
1 | g.151406206A>C | CA341948444 | POGZ | c.2877T>G (p.Asp959Glu) c.2670T>G (p.Asp890Glu) c.2829T>G (p.Asp943Glu) c.2850T>G (p.Asp950Glu) n.2977T>G c.2544T>G (p.Asp848Glu) c.2802T>G (p.Asp934Glu) c.2697T>G (p.Asp899Glu) c.2643T>G (p.Asp881Glu) c.2721T>G (p.Asp907Glu) c.2472T>G (p.Asp824Glu) c.2703T>G (p.Asp901Glu) c.1629T>G (p.Asp543Glu) n.2684T>G | |
1 | g.151406206A>G | CA420910081 | POGZ | c.2877T>C (p.Asp959=) c.2670T>C (p.Asp890=) c.2829T>C (p.Asp943=) c.2850T>C (p.Asp950=) n.2977T>C c.2544T>C (p.Asp848=) c.2802T>C (p.Asp934=) c.2697T>C (p.Asp899=) c.2643T>C (p.Asp881=) c.2721T>C (p.Asp907=) c.2472T>C (p.Asp824=) c.2703T>C (p.Asp901=) c.1629T>C (p.Asp543=) n.2684T>C | |
1 | g.151406206A>T | CA341948448 | POGZ | c.2877T>A (p.Asp959Glu) c.2670T>A (p.Asp890Glu) c.2829T>A (p.Asp943Glu) c.2850T>A (p.Asp950Glu) n.2977T>A c.2544T>A (p.Asp848Glu) c.2802T>A (p.Asp934Glu) c.2697T>A (p.Asp899Glu) c.2643T>A (p.Asp881Glu) c.2721T>A (p.Asp907Glu) c.2472T>A (p.Asp824Glu) c.2703T>A (p.Asp901Glu) c.1629T>A (p.Asp543Glu) n.2684T>A | |
1 | g.151406207T>A | CA341948452 | POGZ | c.2876A>T (p.Asp959Val) c.2669A>T (p.Asp890Val) c.2828A>T (p.Asp943Val) c.2849A>T (p.Asp950Val) n.2976A>T c.2543A>T (p.Asp848Val) c.2801A>T (p.Asp934Val) c.2696A>T (p.Asp899Val) c.2642A>T (p.Asp881Val) c.2720A>T (p.Asp907Val) c.2471A>T (p.Asp824Val) c.2702A>T (p.Asp901Val) c.1628A>T (p.Asp543Val) n.2683A>T | |
1 | g.151406207T>C | CA341948459 | POGZ | c.2876A>G (p.Asp959Gly) c.2669A>G (p.Asp890Gly) c.2828A>G (p.Asp943Gly) c.2849A>G (p.Asp950Gly) n.2976A>G c.2543A>G (p.Asp848Gly) c.2801A>G (p.Asp934Gly) c.2696A>G (p.Asp899Gly) c.2642A>G (p.Asp881Gly) c.2720A>G (p.Asp907Gly) c.2471A>G (p.Asp824Gly) c.2702A>G (p.Asp901Gly) c.1628A>G (p.Asp543Gly) n.2683A>G | dbSNP |
1 | g.151406207T>G | CA341948455 | POGZ | c.2876A>C (p.Asp959Ala) c.2669A>C (p.Asp890Ala) c.2828A>C (p.Asp943Ala) c.2849A>C (p.Asp950Ala) n.2976A>C c.2543A>C (p.Asp848Ala) c.2801A>C (p.Asp934Ala) c.2696A>C (p.Asp899Ala) c.2642A>C (p.Asp881Ala) c.2720A>C (p.Asp907Ala) c.2471A>C (p.Asp824Ala) c.2702A>C (p.Asp901Ala) c.1628A>C (p.Asp543Ala) n.2683A>C | |
1 | g.151406207T= | CA2479570557 | POGZ | c.2876A= (p.Asp959=) c.2669A= (p.Asp890=) c.2828A= (p.Asp943=) c.2849A= (p.Asp950=) n.2976A= c.2543A= (p.Asp848=) c.2801A= (p.Asp934=) c.2696A= (p.Asp899=) c.2642A= (p.Asp881=) c.2720A= (p.Asp907=) c.2471A= (p.Asp824=) c.2702A= (p.Asp901=) c.1628A= (p.Asp543=) n.2683A= | |
1 | g.151406208C>A | CA341948464 | POGZ | c.2875G>T (p.Asp959Tyr) c.2668G>T (p.Asp890Tyr) c.2827G>T (p.Asp943Tyr) c.2848G>T (p.Asp950Tyr) n.2975G>T c.2542G>T (p.Asp848Tyr) c.2800G>T (p.Asp934Tyr) c.2695G>T (p.Asp899Tyr) c.2641G>T (p.Asp881Tyr) c.2719G>T (p.Asp907Tyr) c.2470G>T (p.Asp824Tyr) c.2701G>T (p.Asp901Tyr) c.1627G>T (p.Asp543Tyr) n.2682G>T | |
1 | g.151406208C>G | CA341948467 | POGZ | c.2875G>C (p.Asp959His) c.2668G>C (p.Asp890His) c.2827G>C (p.Asp943His) c.2848G>C (p.Asp950His) n.2975G>C c.2542G>C (p.Asp848His) c.2800G>C (p.Asp934His) c.2695G>C (p.Asp899His) c.2641G>C (p.Asp881His) c.2719G>C (p.Asp907His) c.2470G>C (p.Asp824His) c.2701G>C (p.Asp901His) c.1627G>C (p.Asp543His) n.2682G>C | |
1 | g.151406208C>T | CA341948470 | POGZ | c.2875G>A (p.Asp959Asn) c.2668G>A (p.Asp890Asn) c.2827G>A (p.Asp943Asn) c.2848G>A (p.Asp950Asn) n.2975G>A c.2542G>A (p.Asp848Asn) c.2800G>A (p.Asp934Asn) c.2695G>A (p.Asp899Asn) c.2641G>A (p.Asp881Asn) c.2719G>A (p.Asp907Asn) c.2470G>A (p.Asp824Asn) c.2701G>A (p.Asp901Asn) c.1627G>A (p.Asp543Asn) n.2682G>A | |
1 | g.151406209A>C | CA420910087 | POGZ | c.2874T>G (p.Val958=) c.2667T>G (p.Val889=) c.2826T>G (p.Val942=) c.2847T>G (p.Val949=) n.2974T>G c.2541T>G (p.Val847=) c.2799T>G (p.Val933=) c.2694T>G (p.Val898=) c.2640T>G (p.Val880=) c.2718T>G (p.Val906=) c.2469T>G (p.Val823=) c.2700T>G (p.Val900=) c.1626T>G (p.Val542=) n.2681T>G | |
1 | g.151406209A>G | CA420910088 | POGZ | c.2874T>C (p.Val958=) c.2667T>C (p.Val889=) c.2826T>C (p.Val942=) c.2847T>C (p.Val949=) n.2974T>C c.2541T>C (p.Val847=) c.2799T>C (p.Val933=) c.2694T>C (p.Val898=) c.2640T>C (p.Val880=) c.2718T>C (p.Val906=) c.2469T>C (p.Val823=) c.2700T>C (p.Val900=) c.1626T>C (p.Val542=) n.2681T>C | |
1 | g.151406209A>T | CA420910089 | POGZ | c.2874T>A (p.Val958=) c.2667T>A (p.Val889=) c.2826T>A (p.Val942=) c.2847T>A (p.Val949=) n.2974T>A c.2541T>A (p.Val847=) c.2799T>A (p.Val933=) c.2694T>A (p.Val898=) c.2640T>A (p.Val880=) c.2718T>A (p.Val906=) c.2469T>A (p.Val823=) c.2700T>A (p.Val900=) c.1626T>A (p.Val542=) n.2681T>A | |
1 | g.151406209_151406216del | CA2580061025 | POGZ | c.2867_2874del (p.Leu956ArgfsTer2) c.2660_2667del (p.Leu887ArgfsTer2) c.2819_2826del (p.Leu940ArgfsTer2) c.2840_2847del (p.Leu947ArgfsTer2) n.2967_2974del c.2534_2541del (p.Leu845ArgfsTer2) c.2792_2799del (p.Leu931ArgfsTer2) c.2687_2694del (p.Leu896ArgfsTer2) c.2633_2640del (p.Leu878ArgfsTer2) c.2711_2718del (p.Leu904ArgfsTer2) c.2462_2469del (p.Leu821ArgfsTer2) c.2693_2700del (p.Leu898ArgfsTer2) c.1619_1626del (p.Leu540ArgfsTer2) n.2674_2681del | ClinVar |
1 | g.151406210A>C | CA341948474 | POGZ | c.2873T>G (p.Val958Gly) c.2666T>G (p.Val889Gly) c.2825T>G (p.Val942Gly) c.2846T>G (p.Val949Gly) n.2973T>G c.2540T>G (p.Val847Gly) c.2798T>G (p.Val933Gly) c.2693T>G (p.Val898Gly) c.2639T>G (p.Val880Gly) c.2717T>G (p.Val906Gly) c.2468T>G (p.Val823Gly) c.2699T>G (p.Val900Gly) c.1625T>G (p.Val542Gly) n.2680T>G | gnomAD v4 |
1 | g.151406210A>G | CA341948477 | POGZ | c.2873T>C (p.Val958Ala) c.2666T>C (p.Val889Ala) c.2825T>C (p.Val942Ala) c.2846T>C (p.Val949Ala) n.2973T>C c.2540T>C (p.Val847Ala) c.2798T>C (p.Val933Ala) c.2693T>C (p.Val898Ala) c.2639T>C (p.Val880Ala) c.2717T>C (p.Val906Ala) c.2468T>C (p.Val823Ala) c.2699T>C (p.Val900Ala) c.1625T>C (p.Val542Ala) n.2680T>C | |
1 | g.151406210A>T | CA341948481 | POGZ | c.2873T>A (p.Val958Asp) c.2666T>A (p.Val889Asp) c.2825T>A (p.Val942Asp) c.2846T>A (p.Val949Asp) n.2973T>A c.2540T>A (p.Val847Asp) c.2798T>A (p.Val933Asp) c.2693T>A (p.Val898Asp) c.2639T>A (p.Val880Asp) c.2717T>A (p.Val906Asp) c.2468T>A (p.Val823Asp) c.2699T>A (p.Val900Asp) c.1625T>A (p.Val542Asp) n.2680T>A | |
1 | g.151406211C>A | CA341948482 | POGZ | c.2872G>T (p.Val958Phe) c.2665G>T (p.Val889Phe) c.2824G>T (p.Val942Phe) c.2845G>T (p.Val949Phe) n.2972G>T c.2539G>T (p.Val847Phe) c.2797G>T (p.Val933Phe) c.2692G>T (p.Val898Phe) c.2638G>T (p.Val880Phe) c.2716G>T (p.Val906Phe) c.2467G>T (p.Val823Phe) c.2698G>T (p.Val900Phe) c.1624G>T (p.Val542Phe) n.2679G>T | |
1 | g.151406211C>G | CA341948483 | POGZ | c.2872G>C (p.Val958Leu) c.2665G>C (p.Val889Leu) c.2824G>C (p.Val942Leu) c.2845G>C (p.Val949Leu) n.2972G>C c.2539G>C (p.Val847Leu) c.2797G>C (p.Val933Leu) c.2692G>C (p.Val898Leu) c.2638G>C (p.Val880Leu) c.2716G>C (p.Val906Leu) c.2467G>C (p.Val823Leu) c.2698G>C (p.Val900Leu) c.1624G>C (p.Val542Leu) n.2679G>C | |
1 | g.151406211C>T | CA341948486 | POGZ | c.2872G>A (p.Val958Ile) c.2665G>A (p.Val889Ile) c.2824G>A (p.Val942Ile) c.2845G>A (p.Val949Ile) n.2972G>A c.2539G>A (p.Val847Ile) c.2797G>A (p.Val933Ile) c.2692G>A (p.Val898Ile) c.2638G>A (p.Val880Ile) c.2716G>A (p.Val906Ile) c.2467G>A (p.Val823Ile) c.2698G>A (p.Val900Ile) c.1624G>A (p.Val542Ile) n.2679G>A |