| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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.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 |