| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.151405913T>A | CA341945487 | POGZ | c.3170A>T (p.Gln1057Leu) c.2963A>T (p.Gln988Leu) c.3122A>T (p.Gln1041Leu) c.3143A>T (p.Gln1048Leu) n.3270A>T c.2837A>T (p.Gln946Leu) c.3095A>T (p.Gln1032Leu) c.2990A>T (p.Gln997Leu) c.2936A>T (p.Gln979Leu) c.3014A>T (p.Gln1005Leu) c.2765A>T (p.Gln922Leu) c.2996A>T (p.Gln999Leu) c.1922A>T (p.Gln641Leu) n.2977A>T | |
| 1 | g.151405913T>C | CA341945490 | POGZ | c.3170A>G (p.Gln1057Arg) c.2963A>G (p.Gln988Arg) c.3122A>G (p.Gln1041Arg) c.3143A>G (p.Gln1048Arg) n.3270A>G c.2837A>G (p.Gln946Arg) c.3095A>G (p.Gln1032Arg) c.2990A>G (p.Gln997Arg) c.2936A>G (p.Gln979Arg) c.3014A>G (p.Gln1005Arg) c.2765A>G (p.Gln922Arg) c.2996A>G (p.Gln999Arg) c.1922A>G (p.Gln641Arg) n.2977A>G | |
| 1 | g.151405913T>G | CA341945484 | POGZ | c.3170A>C (p.Gln1057Pro) c.2963A>C (p.Gln988Pro) c.3122A>C (p.Gln1041Pro) c.3143A>C (p.Gln1048Pro) n.3270A>C c.2837A>C (p.Gln946Pro) c.3095A>C (p.Gln1032Pro) c.2990A>C (p.Gln997Pro) c.2936A>C (p.Gln979Pro) c.3014A>C (p.Gln1005Pro) c.2765A>C (p.Gln922Pro) c.2996A>C (p.Gln999Pro) c.1922A>C (p.Gln641Pro) n.2977A>C | |
| 1 | g.151405914G>A | CA341945501 | POGZ | c.3169C>T (p.Gln1057Ter) c.2962C>T (p.Gln988Ter) c.3121C>T (p.Gln1041Ter) c.3142C>T (p.Gln1048Ter) n.3269C>T c.2836C>T (p.Gln946Ter) c.3094C>T (p.Gln1032Ter) c.2989C>T (p.Gln997Ter) c.2935C>T (p.Gln979Ter) c.3013C>T (p.Gln1005Ter) c.2764C>T (p.Gln922Ter) c.2995C>T (p.Gln999Ter) c.1921C>T (p.Gln641Ter) n.2976C>T | ClinVar dbSNP |
| 1 | g.151405914G>C | CA341945494 | POGZ | c.3169C>G (p.Gln1057Glu) c.2962C>G (p.Gln988Glu) c.3121C>G (p.Gln1041Glu) c.3142C>G (p.Gln1048Glu) n.3269C>G c.2836C>G (p.Gln946Glu) c.3094C>G (p.Gln1032Glu) c.2989C>G (p.Gln997Glu) c.2935C>G (p.Gln979Glu) c.3013C>G (p.Gln1005Glu) c.2764C>G (p.Gln922Glu) c.2995C>G (p.Gln999Glu) c.1921C>G (p.Gln641Glu) n.2976C>G | dbSNP gnomAD v4 |
| 1 | g.151405914G= | CA2479570455 | POGZ | c.3169C= (p.Gln1057=) c.2962C= (p.Gln988=) c.3121C= (p.Gln1041=) c.3142C= (p.Gln1048=) n.3269C= c.2836C= (p.Gln946=) c.3094C= (p.Gln1032=) c.2989C= (p.Gln997=) c.2935C= (p.Gln979=) c.3013C= (p.Gln1005=) c.2764C= (p.Gln922=) c.2995C= (p.Gln999=) c.1921C= (p.Gln641=) n.2976C= | |
| 1 | g.151405914G>T | CA341945498 | POGZ | c.3169C>A (p.Gln1057Lys) c.2962C>A (p.Gln988Lys) c.3121C>A (p.Gln1041Lys) c.3142C>A (p.Gln1048Lys) n.3269C>A c.2836C>A (p.Gln946Lys) c.3094C>A (p.Gln1032Lys) c.2989C>A (p.Gln997Lys) c.2935C>A (p.Gln979Lys) c.3013C>A (p.Gln1005Lys) c.2764C>A (p.Gln922Lys) c.2995C>A (p.Gln999Lys) c.1921C>A (p.Gln641Lys) n.2976C>A | |
| 1 | g.151405915T>A | CA341945504 | POGZ | c.3168A>T (p.Glu1056Asp) c.2961A>T (p.Glu987Asp) c.3120A>T (p.Glu1040Asp) c.3141A>T (p.Glu1047Asp) n.3268A>T c.2835A>T (p.Glu945Asp) c.3093A>T (p.Glu1031Asp) c.2988A>T (p.Glu996Asp) c.2934A>T (p.Glu978Asp) c.3012A>T (p.Glu1004Asp) c.2763A>T (p.Glu921Asp) c.2994A>T (p.Glu998Asp) c.1920A>T (p.Glu640Asp) n.2975A>T | |
| 1 | g.151405915T>C | CA420909563 | POGZ | c.3168A>G (p.Glu1056=) c.2961A>G (p.Glu987=) c.3120A>G (p.Glu1040=) c.3141A>G (p.Glu1047=) n.3268A>G c.2835A>G (p.Glu945=) c.3093A>G (p.Glu1031=) c.2988A>G (p.Glu996=) c.2934A>G (p.Glu978=) c.3012A>G (p.Glu1004=) c.2763A>G (p.Glu921=) c.2994A>G (p.Glu998=) c.1920A>G (p.Glu640=) n.2975A>G | |
| 1 | g.151405915T>G | CA341945506 | POGZ | c.3168A>C (p.Glu1056Asp) c.2961A>C (p.Glu987Asp) c.3120A>C (p.Glu1040Asp) c.3141A>C (p.Glu1047Asp) n.3268A>C c.2835A>C (p.Glu945Asp) c.3093A>C (p.Glu1031Asp) c.2988A>C (p.Glu996Asp) c.2934A>C (p.Glu978Asp) c.3012A>C (p.Glu1004Asp) c.2763A>C (p.Glu921Asp) c.2994A>C (p.Glu998Asp) c.1920A>C (p.Glu640Asp) n.2975A>C | |
| 1 | g.151405916T>A | CA341945509 | POGZ | c.3167A>T (p.Glu1056Val) c.2960A>T (p.Glu987Val) c.3119A>T (p.Glu1040Val) c.3140A>T (p.Glu1047Val) n.3267A>T c.2834A>T (p.Glu945Val) c.3092A>T (p.Glu1031Val) c.2987A>T (p.Glu996Val) c.2933A>T (p.Glu978Val) c.3011A>T (p.Glu1004Val) c.2762A>T (p.Glu921Val) c.2993A>T (p.Glu998Val) c.1919A>T (p.Glu640Val) n.2974A>T | |
| 1 | g.151405916T>C | CA341945511 | POGZ | c.3167A>G (p.Glu1056Gly) c.2960A>G (p.Glu987Gly) c.3119A>G (p.Glu1040Gly) c.3140A>G (p.Glu1047Gly) n.3267A>G c.2834A>G (p.Glu945Gly) c.3092A>G (p.Glu1031Gly) c.2987A>G (p.Glu996Gly) c.2933A>G (p.Glu978Gly) c.3011A>G (p.Glu1004Gly) c.2762A>G (p.Glu921Gly) c.2993A>G (p.Glu998Gly) c.1919A>G (p.Glu640Gly) n.2974A>G | |
| 1 | g.151405916T>G | CA341945514 | POGZ | c.3167A>C (p.Glu1056Ala) c.2960A>C (p.Glu987Ala) c.3119A>C (p.Glu1040Ala) c.3140A>C (p.Glu1047Ala) n.3267A>C c.2834A>C (p.Glu945Ala) c.3092A>C (p.Glu1031Ala) c.2987A>C (p.Glu996Ala) c.2933A>C (p.Glu978Ala) c.3011A>C (p.Glu1004Ala) c.2762A>C (p.Glu921Ala) c.2993A>C (p.Glu998Ala) c.1919A>C (p.Glu640Ala) n.2974A>C | |
| 1 | g.151405917C>A | CA341945517 | POGZ | c.3166G>T (p.Glu1056Ter) c.2959G>T (p.Glu987Ter) c.3118G>T (p.Glu1040Ter) c.3139G>T (p.Glu1047Ter) n.3266G>T c.2833G>T (p.Glu945Ter) c.3091G>T (p.Glu1031Ter) c.2986G>T (p.Glu996Ter) c.2932G>T (p.Glu978Ter) c.3010G>T (p.Glu1004Ter) c.2761G>T (p.Glu921Ter) c.2992G>T (p.Glu998Ter) c.1918G>T (p.Glu640Ter) n.2973G>T | |
| 1 | g.151405917C>G | CA341945521 | POGZ | c.3166G>C (p.Glu1056Gln) c.2959G>C (p.Glu987Gln) c.3118G>C (p.Glu1040Gln) c.3139G>C (p.Glu1047Gln) n.3266G>C c.2833G>C (p.Glu945Gln) c.3091G>C (p.Glu1031Gln) c.2986G>C (p.Glu996Gln) c.2932G>C (p.Glu978Gln) c.3010G>C (p.Glu1004Gln) c.2761G>C (p.Glu921Gln) c.2992G>C (p.Glu998Gln) c.1918G>C (p.Glu640Gln) n.2973G>C | |
| 1 | g.151405917C>T | CA341945520 | POGZ | c.3166G>A (p.Glu1056Lys) c.2959G>A (p.Glu987Lys) c.3118G>A (p.Glu1040Lys) c.3139G>A (p.Glu1047Lys) n.3266G>A c.2833G>A (p.Glu945Lys) c.3091G>A (p.Glu1031Lys) c.2986G>A (p.Glu996Lys) c.2932G>A (p.Glu978Lys) c.3010G>A (p.Glu1004Lys) c.2761G>A (p.Glu921Lys) c.2992G>A (p.Glu998Lys) c.1918G>A (p.Glu640Lys) n.2973G>A | ClinVar dbSNP |
| 1 | g.151405918G>A | CA1091005 | POGZ | c.3165C>T (p.Arg1055=) c.2958C>T (p.Arg986=) c.3117C>T (p.Arg1039=) c.3138C>T (p.Arg1046=) n.3265C>T c.2832C>T (p.Arg944=) c.3090C>T (p.Arg1030=) c.2985C>T (p.Arg995=) c.2931C>T (p.Arg977=) c.3009C>T (p.Arg1003=) c.2760C>T (p.Arg920=) c.2991C>T (p.Arg997=) c.1917C>T (p.Arg639=) n.2972C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 1 | g.151405918G>C | CA420909564 | POGZ | c.3165C>G (p.Arg1055=) c.2958C>G (p.Arg986=) c.3117C>G (p.Arg1039=) c.3138C>G (p.Arg1046=) n.3265C>G c.2832C>G (p.Arg944=) c.3090C>G (p.Arg1030=) c.2985C>G (p.Arg995=) c.2931C>G (p.Arg977=) c.3009C>G (p.Arg1003=) c.2760C>G (p.Arg920=) c.2991C>G (p.Arg997=) c.1917C>G (p.Arg639=) n.2972C>G | |
| 1 | g.151405918G= | CA1143791163 | POGZ | c.3165C= (p.Arg1055=) c.2958C= (p.Arg986=) c.3117C= (p.Arg1039=) c.3138C= (p.Arg1046=) n.3265C= c.2832C= (p.Arg944=) c.3090C= (p.Arg1030=) c.2985C= (p.Arg995=) c.2931C= (p.Arg977=) c.3009C= (p.Arg1003=) c.2760C= (p.Arg920=) c.2991C= (p.Arg997=) c.1917C= (p.Arg639=) n.2972C= | |
| 1 | g.151405918G>T | CA420909565 | POGZ | c.3165C>A (p.Arg1055=) c.2958C>A (p.Arg986=) c.3117C>A (p.Arg1039=) c.3138C>A (p.Arg1046=) n.3265C>A c.2832C>A (p.Arg944=) c.3090C>A (p.Arg1030=) c.2985C>A (p.Arg995=) c.2931C>A (p.Arg977=) c.3009C>A (p.Arg1003=) c.2760C>A (p.Arg920=) c.2991C>A (p.Arg997=) c.1917C>A (p.Arg639=) n.2972C>A | |
| 1 | g.151405919C>A | CA341945528 | POGZ | c.3164G>T (p.Arg1055Leu) c.2957G>T (p.Arg986Leu) c.3116G>T (p.Arg1039Leu) c.3137G>T (p.Arg1046Leu) n.3264G>T c.2831G>T (p.Arg944Leu) c.3089G>T (p.Arg1030Leu) c.2984G>T (p.Arg995Leu) c.2930G>T (p.Arg977Leu) c.3008G>T (p.Arg1003Leu) c.2759G>T (p.Arg920Leu) c.2990G>T (p.Arg997Leu) c.1916G>T (p.Arg639Leu) n.2971G>T | |
| 1 | g.151405919C= | CA2479570456 | POGZ | c.3164G= (p.Arg1055=) c.2957G= (p.Arg986=) c.3116G= (p.Arg1039=) c.3137G= (p.Arg1046=) n.3264G= c.2831G= (p.Arg944=) c.3089G= (p.Arg1030=) c.2984G= (p.Arg995=) c.2930G= (p.Arg977=) c.3008G= (p.Arg1003=) c.2759G= (p.Arg920=) c.2990G= (p.Arg997=) c.1916G= (p.Arg639=) n.2971G= | |
| 1 | g.151405919C>G | CA341945531 | POGZ | c.3164G>C (p.Arg1055Pro) c.2957G>C (p.Arg986Pro) c.3116G>C (p.Arg1039Pro) c.3137G>C (p.Arg1046Pro) n.3264G>C c.2831G>C (p.Arg944Pro) c.3089G>C (p.Arg1030Pro) c.2984G>C (p.Arg995Pro) c.2930G>C (p.Arg977Pro) c.3008G>C (p.Arg1003Pro) c.2759G>C (p.Arg920Pro) c.2990G>C (p.Arg997Pro) c.1916G>C (p.Arg639Pro) n.2971G>C | |
| 1 | g.151405919C>T | CA1091006 | POGZ | c.3164G>A (p.Arg1055His) c.2957G>A (p.Arg986His) c.3116G>A (p.Arg1039His) c.3137G>A (p.Arg1046His) n.3264G>A c.2831G>A (p.Arg944His) c.3089G>A (p.Arg1030His) c.2984G>A (p.Arg995His) c.2930G>A (p.Arg977His) c.3008G>A (p.Arg1003His) c.2759G>A (p.Arg920His) c.2990G>A (p.Arg997His) c.1916G>A (p.Arg639His) n.2971G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 1 | g.151405920G>A | CA29569062 | POGZ | c.3163C>T (p.Arg1055Cys) c.2956C>T (p.Arg986Cys) c.3115C>T (p.Arg1039Cys) c.3136C>T (p.Arg1046Cys) n.3263C>T c.2830C>T (p.Arg944Cys) c.3088C>T (p.Arg1030Cys) c.2983C>T (p.Arg995Cys) c.2929C>T (p.Arg977Cys) c.3007C>T (p.Arg1003Cys) c.2758C>T (p.Arg920Cys) c.2989C>T (p.Arg997Cys) c.1915C>T (p.Arg639Cys) n.2970C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 1 | g.151405920G>C | CA341945541 | POGZ | c.3163C>G (p.Arg1055Gly) c.2956C>G (p.Arg986Gly) c.3115C>G (p.Arg1039Gly) c.3136C>G (p.Arg1046Gly) n.3263C>G c.2830C>G (p.Arg944Gly) c.3088C>G (p.Arg1030Gly) c.2983C>G (p.Arg995Gly) c.2929C>G (p.Arg977Gly) c.3007C>G (p.Arg1003Gly) c.2758C>G (p.Arg920Gly) c.2989C>G (p.Arg997Gly) c.1915C>G (p.Arg639Gly) n.2970C>G | dbSNP gnomAD v4 |
| 1 | g.151405920G= | CA2479570457 | POGZ | c.3163C= (p.Arg1055=) c.2956C= (p.Arg986=) c.3115C= (p.Arg1039=) c.3136C= (p.Arg1046=) n.3263C= c.2830C= (p.Arg944=) c.3088C= (p.Arg1030=) c.2983C= (p.Arg995=) c.2929C= (p.Arg977=) c.3007C= (p.Arg1003=) c.2758C= (p.Arg920=) c.2989C= (p.Arg997=) c.1915C= (p.Arg639=) n.2970C= | |
| 1 | g.151405920G>T | CA341945539 | POGZ | c.3163C>A (p.Arg1055Ser) c.2956C>A (p.Arg986Ser) c.3115C>A (p.Arg1039Ser) c.3136C>A (p.Arg1046Ser) n.3263C>A c.2830C>A (p.Arg944Ser) c.3088C>A (p.Arg1030Ser) c.2983C>A (p.Arg995Ser) c.2929C>A (p.Arg977Ser) c.3007C>A (p.Arg1003Ser) c.2758C>A (p.Arg920Ser) c.2989C>A (p.Arg997Ser) c.1915C>A (p.Arg639Ser) n.2970C>A | |
| 1 | g.151405921C>A | CA341945545 | POGZ | c.3162G>T (p.Gln1054His) c.2955G>T (p.Gln985His) c.3114G>T (p.Gln1038His) c.3135G>T (p.Gln1045His) n.3262G>T c.2829G>T (p.Gln943His) c.3087G>T (p.Gln1029His) c.2982G>T (p.Gln994His) c.2928G>T (p.Gln976His) c.3006G>T (p.Gln1002His) c.2757G>T (p.Gln919His) c.2988G>T (p.Gln996His) c.1914G>T (p.Gln638His) n.2969G>T | |
| 1 | g.151405921C>G | CA341945546 | POGZ | c.3162G>C (p.Gln1054His) c.2955G>C (p.Gln985His) c.3114G>C (p.Gln1038His) c.3135G>C (p.Gln1045His) n.3262G>C c.2829G>C (p.Gln943His) c.3087G>C (p.Gln1029His) c.2982G>C (p.Gln994His) c.2928G>C (p.Gln976His) c.3006G>C (p.Gln1002His) c.2757G>C (p.Gln919His) c.2988G>C (p.Gln996His) c.1914G>C (p.Gln638His) n.2969G>C | |
| 1 | g.151405921C>T | CA420909567 | POGZ | c.3162G>A (p.Gln1054=) c.2955G>A (p.Gln985=) c.3114G>A (p.Gln1038=) c.3135G>A (p.Gln1045=) n.3262G>A c.2829G>A (p.Gln943=) c.3087G>A (p.Gln1029=) c.2982G>A (p.Gln994=) c.2928G>A (p.Gln976=) c.3006G>A (p.Gln1002=) c.2757G>A (p.Gln919=) c.2988G>A (p.Gln996=) c.1914G>A (p.Gln638=) n.2969G>A | gnomAD v4 |
| 1 | g.151405922T>A | CA341945551 | POGZ | c.3161A>T (p.Gln1054Leu) c.2954A>T (p.Gln985Leu) c.3113A>T (p.Gln1038Leu) c.3134A>T (p.Gln1045Leu) n.3261A>T c.2828A>T (p.Gln943Leu) c.3086A>T (p.Gln1029Leu) c.2981A>T (p.Gln994Leu) c.2927A>T (p.Gln976Leu) c.3005A>T (p.Gln1002Leu) c.2756A>T (p.Gln919Leu) c.2987A>T (p.Gln996Leu) c.1913A>T (p.Gln638Leu) n.2968A>T | |
| 1 | g.151405922T>C | CA341945552 | POGZ | c.3161A>G (p.Gln1054Arg) c.2954A>G (p.Gln985Arg) c.3113A>G (p.Gln1038Arg) c.3134A>G (p.Gln1045Arg) n.3261A>G c.2828A>G (p.Gln943Arg) c.3086A>G (p.Gln1029Arg) c.2981A>G (p.Gln994Arg) c.2927A>G (p.Gln976Arg) c.3005A>G (p.Gln1002Arg) c.2756A>G (p.Gln919Arg) c.2987A>G (p.Gln996Arg) c.1913A>G (p.Gln638Arg) n.2968A>G | |
| 1 | g.151405922T>G | CA341945554 | POGZ | c.3161A>C (p.Gln1054Pro) c.2954A>C (p.Gln985Pro) c.3113A>C (p.Gln1038Pro) c.3134A>C (p.Gln1045Pro) n.3261A>C c.2828A>C (p.Gln943Pro) c.3086A>C (p.Gln1029Pro) c.2981A>C (p.Gln994Pro) c.2927A>C (p.Gln976Pro) c.3005A>C (p.Gln1002Pro) c.2756A>C (p.Gln919Pro) c.2987A>C (p.Gln996Pro) c.1913A>C (p.Gln638Pro) n.2968A>C | |
| 1 | g.151405923G>A | CA341945559 | POGZ | c.3160C>T (p.Gln1054Ter) c.2953C>T (p.Gln985Ter) c.3112C>T (p.Gln1038Ter) c.3133C>T (p.Gln1045Ter) n.3260C>T c.2827C>T (p.Gln943Ter) c.3085C>T (p.Gln1029Ter) c.2980C>T (p.Gln994Ter) c.2926C>T (p.Gln976Ter) c.3004C>T (p.Gln1002Ter) c.2755C>T (p.Gln919Ter) c.2986C>T (p.Gln996Ter) c.1912C>T (p.Gln638Ter) n.2967C>T | COSMIC COSMIC |
| 1 | g.151405923G>C | CA341945561 | POGZ | c.3160C>G (p.Gln1054Glu) c.2953C>G (p.Gln985Glu) c.3112C>G (p.Gln1038Glu) c.3133C>G (p.Gln1045Glu) n.3260C>G c.2827C>G (p.Gln943Glu) c.3085C>G (p.Gln1029Glu) c.2980C>G (p.Gln994Glu) c.2926C>G (p.Gln976Glu) c.3004C>G (p.Gln1002Glu) c.2755C>G (p.Gln919Glu) c.2986C>G (p.Gln996Glu) c.1912C>G (p.Gln638Glu) n.2967C>G | |
| 1 | g.151405923G>T | CA341945563 | POGZ | c.3160C>A (p.Gln1054Lys) c.2953C>A (p.Gln985Lys) c.3112C>A (p.Gln1038Lys) c.3133C>A (p.Gln1045Lys) n.3260C>A c.2827C>A (p.Gln943Lys) c.3085C>A (p.Gln1029Lys) c.2980C>A (p.Gln994Lys) c.2926C>A (p.Gln976Lys) c.3004C>A (p.Gln1002Lys) c.2755C>A (p.Gln919Lys) c.2986C>A (p.Gln996Lys) c.1912C>A (p.Gln638Lys) n.2967C>A | |
| 1 | g.151405924G>A | CA420909569 | POGZ | c.3159C>T (p.Thr1053=) c.2952C>T (p.Thr984=) c.3111C>T (p.Thr1037=) c.3132C>T (p.Thr1044=) n.3259C>T c.2826C>T (p.Thr942=) c.3084C>T (p.Thr1028=) c.2979C>T (p.Thr993=) c.2925C>T (p.Thr975=) c.3003C>T (p.Thr1001=) c.2754C>T (p.Thr918=) c.2985C>T (p.Thr995=) c.1911C>T (p.Thr637=) n.2966C>T | |
| 1 | g.151405924G>C | CA420909570 | POGZ | c.3159C>G (p.Thr1053=) c.2952C>G (p.Thr984=) c.3111C>G (p.Thr1037=) c.3132C>G (p.Thr1044=) n.3259C>G c.2826C>G (p.Thr942=) c.3084C>G (p.Thr1028=) c.2979C>G (p.Thr993=) c.2925C>G (p.Thr975=) c.3003C>G (p.Thr1001=) c.2754C>G (p.Thr918=) c.2985C>G (p.Thr995=) c.1911C>G (p.Thr637=) n.2966C>G | gnomAD v4 |
| 1 | g.151405924G>T | CA420909568 | POGZ | c.3159C>A (p.Thr1053=) c.2952C>A (p.Thr984=) c.3111C>A (p.Thr1037=) c.3132C>A (p.Thr1044=) n.3259C>A c.2826C>A (p.Thr942=) c.3084C>A (p.Thr1028=) c.2979C>A (p.Thr993=) c.2925C>A (p.Thr975=) c.3003C>A (p.Thr1001=) c.2754C>A (p.Thr918=) c.2985C>A (p.Thr995=) c.1911C>A (p.Thr637=) n.2966C>A | |
| 1 | g.151405925G>A | CA1091007 | POGZ | c.3158C>T (p.Thr1053Ile) c.2951C>T (p.Thr984Ile) c.3110C>T (p.Thr1037Ile) c.3131C>T (p.Thr1044Ile) n.3258C>T c.2825C>T (p.Thr942Ile) c.3083C>T (p.Thr1028Ile) c.2978C>T (p.Thr993Ile) c.2924C>T (p.Thr975Ile) c.3002C>T (p.Thr1001Ile) c.2753C>T (p.Thr918Ile) c.2984C>T (p.Thr995Ile) c.1910C>T (p.Thr637Ile) n.2965C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.151405925G>C | CA341945567 | POGZ | c.3158C>G (p.Thr1053Ser) c.2951C>G (p.Thr984Ser) c.3110C>G (p.Thr1037Ser) c.3131C>G (p.Thr1044Ser) n.3258C>G c.2825C>G (p.Thr942Ser) c.3083C>G (p.Thr1028Ser) c.2978C>G (p.Thr993Ser) c.2924C>G (p.Thr975Ser) c.3002C>G (p.Thr1001Ser) c.2753C>G (p.Thr918Ser) c.2984C>G (p.Thr995Ser) c.1910C>G (p.Thr637Ser) n.2965C>G | |
| 1 | g.151405925G= | CA2479570458 | POGZ | c.3158C= (p.Thr1053=) c.2951C= (p.Thr984=) c.3110C= (p.Thr1037=) c.3131C= (p.Thr1044=) n.3258C= c.2825C= (p.Thr942=) c.3083C= (p.Thr1028=) c.2978C= (p.Thr993=) c.2924C= (p.Thr975=) c.3002C= (p.Thr1001=) c.2753C= (p.Thr918=) c.2984C= (p.Thr995=) c.1910C= (p.Thr637=) n.2965C= | |
| 1 | g.151405925G>T | CA341945570 | POGZ | c.3158C>A (p.Thr1053Asn) c.2951C>A (p.Thr984Asn) c.3110C>A (p.Thr1037Asn) c.3131C>A (p.Thr1044Asn) n.3258C>A c.2825C>A (p.Thr942Asn) c.3083C>A (p.Thr1028Asn) c.2978C>A (p.Thr993Asn) c.2924C>A (p.Thr975Asn) c.3002C>A (p.Thr1001Asn) c.2753C>A (p.Thr918Asn) c.2984C>A (p.Thr995Asn) c.1910C>A (p.Thr637Asn) n.2965C>A | |
| 1 | g.151405926T>A | CA341945580 | POGZ | c.3157A>T (p.Thr1053Ser) c.2950A>T (p.Thr984Ser) c.3109A>T (p.Thr1037Ser) c.3130A>T (p.Thr1044Ser) n.3257A>T c.2824A>T (p.Thr942Ser) c.3082A>T (p.Thr1028Ser) c.2977A>T (p.Thr993Ser) c.2923A>T (p.Thr975Ser) c.3001A>T (p.Thr1001Ser) c.2752A>T (p.Thr918Ser) c.2983A>T (p.Thr995Ser) c.1909A>T (p.Thr637Ser) n.2964A>T | |
| 1 | g.151405926T>C | CA341945577 | POGZ | c.3157A>G (p.Thr1053Ala) c.2950A>G (p.Thr984Ala) c.3109A>G (p.Thr1037Ala) c.3130A>G (p.Thr1044Ala) n.3257A>G c.2824A>G (p.Thr942Ala) c.3082A>G (p.Thr1028Ala) c.2977A>G (p.Thr993Ala) c.2923A>G (p.Thr975Ala) c.3001A>G (p.Thr1001Ala) c.2752A>G (p.Thr918Ala) c.2983A>G (p.Thr995Ala) c.1909A>G (p.Thr637Ala) n.2964A>G | dbSNP |
| 1 | g.151405926T>G | CA341945574 | POGZ | c.3157A>C (p.Thr1053Pro) c.2950A>C (p.Thr984Pro) c.3109A>C (p.Thr1037Pro) c.3130A>C (p.Thr1044Pro) n.3257A>C c.2824A>C (p.Thr942Pro) c.3082A>C (p.Thr1028Pro) c.2977A>C (p.Thr993Pro) c.2923A>C (p.Thr975Pro) c.3001A>C (p.Thr1001Pro) c.2752A>C (p.Thr918Pro) c.2983A>C (p.Thr995Pro) c.1909A>C (p.Thr637Pro) n.2964A>C | |
| 1 | g.151405926T= | CA2479570459 | POGZ | c.3157A= (p.Thr1053=) c.2950A= (p.Thr984=) c.3109A= (p.Thr1037=) c.3130A= (p.Thr1044=) n.3257A= c.2824A= (p.Thr942=) c.3082A= (p.Thr1028=) c.2977A= (p.Thr993=) c.2923A= (p.Thr975=) c.3001A= (p.Thr1001=) c.2752A= (p.Thr918=) c.2983A= (p.Thr995=) c.1909A= (p.Thr637=) n.2964A= | |
| 1 | g.151405927T>A | CA420909572 | POGZ | c.3156A>T (p.Leu1052=) c.2949A>T (p.Leu983=) c.3108A>T (p.Leu1036=) c.3129A>T (p.Leu1043=) n.3256A>T c.2823A>T (p.Leu941=) c.3081A>T (p.Leu1027=) c.2976A>T (p.Leu992=) c.2922A>T (p.Leu974=) c.3000A>T (p.Leu1000=) c.2751A>T (p.Leu917=) c.2982A>T (p.Leu994=) c.1908A>T (p.Leu636=) n.2963A>T | |
| 1 | g.151405927T>C | CA420909573 | POGZ | c.3156A>G (p.Leu1052=) c.2949A>G (p.Leu983=) c.3108A>G (p.Leu1036=) c.3129A>G (p.Leu1043=) n.3256A>G c.2823A>G (p.Leu941=) c.3081A>G (p.Leu1027=) c.2976A>G (p.Leu992=) c.2922A>G (p.Leu974=) c.3000A>G (p.Leu1000=) c.2751A>G (p.Leu917=) c.2982A>G (p.Leu994=) c.1908A>G (p.Leu636=) n.2963A>G |