| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.112838548_112838617del | CA658760856 | APC | c.2619_2688del (n.2619_2688del) c.3008_3077del (p.Ser1003TyrfsTer14) c.*2960_*3029del (n.*2960_*3029del) c.2900_2969del (p.Ser967TyrfsTer14) c.2954_3023del (p.Ser985TyrfsTer14) c.1307_1376del c.*2276_*2345del (n.*2276_*2345del) c.230+9576_230+9645del c.2984_3053del (p.Ser995TyrfsTer14) c.2879_2948del (p.Ser960TyrfsTer14) c.2870_2939del (p.Ser957TyrfsTer14) c.2831_2900del (p.Ser944TyrfsTer14) c.2777_2846del (p.Ser926TyrfsTer14) c.2681_2750del (p.Ser894TyrfsTer14) c.2651_2720del (p.Ser884TyrfsTer14) c.2576_2645del (p.Ser859TyrfsTer14) c.2474_2543del (p.Ser825TyrfsTer14) c.2105_2174del (p.Ser702TyrfsTer14) | |
| 5 | g.112838604_112838611delinsCTAGCCCA | CA1573485377 | APC | c.2675_2682delinsCTAGCCCA (n.2675_2682delinsCTAGCCCA) c.3064_3071delinsCTAGCCCA (p.Leu1022=) c.*3016_*3023delinsCTAGCCCA (n.*3016_*3023delinsCTAGCCCA) c.2956_2963delinsCTAGCCCA (p.Leu986=) c.3010_3017delinsCTAGCCCA (p.Leu1004=) c.1363_1370delinsCTAGCCCA c.*2332_*2339delinsCTAGCCCA (n.*2332_*2339delinsCTAGCCCA) c.230+9632_230+9639delinsCTAGCCCA c.3040_3047delinsCTAGCCCA (p.Leu1014=) c.2935_2942delinsCTAGCCCA (p.Leu979=) c.2926_2933delinsCTAGCCCA (p.Leu976=) c.2887_2894delinsCTAGCCCA (p.Leu963=) c.2833_2840delinsCTAGCCCA (p.Leu945=) c.2737_2744delinsCTAGCCCA (p.Leu913=) c.2707_2714delinsCTAGCCCA (p.Leu903=) c.2632_2639delinsCTAGCCCA (p.Leu878=) c.2530_2537delinsCTAGCCCA (p.Leu844=) c.2161_2168delinsCTAGCCCA (p.Leu721=) | |
| 5 | g.112838605T>A | CA16027918 | APC | c.2676T>A (n.2676T>A) c.3065T>A (p.Leu1022Gln) c.*3017T>A (n.*3017T>A) c.2957T>A (p.Leu986Gln) c.3011T>A (p.Leu1004Gln) c.1364T>A c.*2333T>A (n.*2333T>A) c.230+9633T>A c.3041T>A (p.Leu1014Gln) c.2936T>A (p.Leu979Gln) c.2927T>A (p.Leu976Gln) c.2888T>A (p.Leu963Gln) c.2834T>A (p.Leu945Gln) c.2738T>A (p.Leu913Gln) c.2708T>A (p.Leu903Gln) c.2633T>A (p.Leu878Gln) c.2531T>A (p.Leu844Gln) c.2162T>A (p.Leu721Gln) | dbSNP |
| 5 | g.112838605T>C | CA16027919 | APC | c.2676T>C (n.2676T>C) c.3065T>C (p.Leu1022Pro) c.*3017T>C (n.*3017T>C) c.2957T>C (p.Leu986Pro) c.3011T>C (p.Leu1004Pro) c.1364T>C c.*2333T>C (n.*2333T>C) c.230+9633T>C c.3041T>C (p.Leu1014Pro) c.2936T>C (p.Leu979Pro) c.2927T>C (p.Leu976Pro) c.2888T>C (p.Leu963Pro) c.2834T>C (p.Leu945Pro) c.2738T>C (p.Leu913Pro) c.2708T>C (p.Leu903Pro) c.2633T>C (p.Leu878Pro) c.2531T>C (p.Leu844Pro) c.2162T>C (p.Leu721Pro) | ClinVar dbSNP |
| 5 | g.112838605T>G | CA16027920 | APC | c.2676T>G (n.2676T>G) c.3065T>G (p.Leu1022Arg) c.*3017T>G (n.*3017T>G) c.2957T>G (p.Leu986Arg) c.3011T>G (p.Leu1004Arg) c.1364T>G c.*2333T>G (n.*2333T>G) c.230+9633T>G c.3041T>G (p.Leu1014Arg) c.2936T>G (p.Leu979Arg) c.2927T>G (p.Leu976Arg) c.2888T>G (p.Leu963Arg) c.2834T>G (p.Leu945Arg) c.2738T>G (p.Leu913Arg) c.2708T>G (p.Leu903Arg) c.2633T>G (p.Leu878Arg) c.2531T>G (p.Leu844Arg) c.2162T>G (p.Leu721Arg) | |
| 5 | g.112838607_112838613del | CA16042093 | APC | c.2678_2684del (n.2678_2684del) c.3067_3073del (p.Ala1023LysfsTer15) c.*3019_*3025del (n.*3019_*3025del) c.2959_2965del (p.Ala987LysfsTer15) c.3013_3019del (p.Ala1005LysfsTer15) c.1366_1372del c.*2335_*2341del (n.*2335_*2341del) c.230+9635_230+9641del c.3043_3049del (p.Ala1015LysfsTer15) c.2938_2944del (p.Ala980LysfsTer15) c.2929_2935del (p.Ala977LysfsTer15) c.2890_2896del (p.Ala964LysfsTer15) c.2836_2842del (p.Ala946LysfsTer15) c.2740_2746del (p.Ala914LysfsTer15) c.2710_2716del (p.Ala904LysfsTer15) c.2635_2641del (p.Ala879LysfsTer15) c.2533_2539del (p.Ala845LysfsTer15) c.2164_2170del (p.Ala722LysfsTer15) | ClinVar dbSNP |
| 5 | g.112838606A= | CA1573485385 | APC | c.2677A= (n.2677A=) c.3066A= (p.Leu1022=) c.*3018A= (n.*3018A=) c.2958A= (p.Leu986=) c.3012A= (p.Leu1004=) c.1365A= c.*2334A= (n.*2334A=) c.230+9634A= c.3042A= (p.Leu1014=) c.2937A= (p.Leu979=) c.2928A= (p.Leu976=) c.2889A= (p.Leu963=) c.2835A= (p.Leu945=) c.2739A= (p.Leu913=) c.2709A= (p.Leu903=) c.2634A= (p.Leu878=) c.2532A= (p.Leu844=) c.2163A= (p.Leu721=) | |
| 5 | g.112838606A>C | CA445963128 | APC | c.2677A>C (n.2677A>C) c.3066A>C (p.Leu1022=) c.*3018A>C (n.*3018A>C) c.2958A>C (p.Leu986=) c.3012A>C (p.Leu1004=) c.1365A>C c.*2334A>C (n.*2334A>C) c.230+9634A>C c.3042A>C (p.Leu1014=) c.2937A>C (p.Leu979=) c.2928A>C (p.Leu976=) c.2889A>C (p.Leu963=) c.2835A>C (p.Leu945=) c.2739A>C (p.Leu913=) c.2709A>C (p.Leu903=) c.2634A>C (p.Leu878=) c.2532A>C (p.Leu844=) c.2163A>C (p.Leu721=) | |
| 5 | g.112838606A>G | CA445963129 | APC | c.2677A>G (n.2677A>G) c.3066A>G (p.Leu1022=) c.*3018A>G (n.*3018A>G) c.2958A>G (p.Leu986=) c.3012A>G (p.Leu1004=) c.1365A>G c.*2334A>G (n.*2334A>G) c.230+9634A>G c.3042A>G (p.Leu1014=) c.2937A>G (p.Leu979=) c.2928A>G (p.Leu976=) c.2889A>G (p.Leu963=) c.2835A>G (p.Leu945=) c.2739A>G (p.Leu913=) c.2709A>G (p.Leu903=) c.2634A>G (p.Leu878=) c.2532A>G (p.Leu844=) c.2163A>G (p.Leu721=) | dbSNP |
| 5 | g.112838606A>T | CA034282 | APC | c.2677A>T (n.2677A>T) c.3066A>T (p.Leu1022=) c.*3018A>T (n.*3018A>T) c.2958A>T (p.Leu986=) c.3012A>T (p.Leu1004=) c.1365A>T c.*2334A>T (n.*2334A>T) c.230+9634A>T c.3042A>T (p.Leu1014=) c.2937A>T (p.Leu979=) c.2928A>T (p.Leu976=) c.2889A>T (p.Leu963=) c.2835A>T (p.Leu945=) c.2739A>T (p.Leu913=) c.2709A>T (p.Leu903=) c.2634A>T (p.Leu878=) c.2532A>T (p.Leu844=) c.2163A>T (p.Leu721=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.112838607G>A | CA16027921 | APC | c.2678G>A (n.2678G>A) c.3067G>A (p.Ala1023Thr) c.*3019G>A (n.*3019G>A) c.2959G>A (p.Ala987Thr) c.3013G>A (p.Ala1005Thr) c.1366G>A c.*2335G>A (n.*2335G>A) c.230+9635G>A c.3043G>A (p.Ala1015Thr) c.2938G>A (p.Ala980Thr) c.2929G>A (p.Ala977Thr) c.2890G>A (p.Ala964Thr) c.2836G>A (p.Ala946Thr) c.2740G>A (p.Ala914Thr) c.2710G>A (p.Ala904Thr) c.2635G>A (p.Ala879Thr) c.2533G>A (p.Ala845Thr) c.2164G>A (p.Ala722Thr) | |
| 5 | g.112838607G>C | CA16027922 | APC | c.2678G>C (n.2678G>C) c.3067G>C (p.Ala1023Pro) c.*3019G>C (n.*3019G>C) c.2959G>C (p.Ala987Pro) c.3013G>C (p.Ala1005Pro) c.1366G>C c.*2335G>C (n.*2335G>C) c.230+9635G>C c.3043G>C (p.Ala1015Pro) c.2938G>C (p.Ala980Pro) c.2929G>C (p.Ala977Pro) c.2890G>C (p.Ala964Pro) c.2836G>C (p.Ala946Pro) c.2740G>C (p.Ala914Pro) c.2710G>C (p.Ala904Pro) c.2635G>C (p.Ala879Pro) c.2533G>C (p.Ala845Pro) c.2164G>C (p.Ala722Pro) | |
| 5 | g.112838607G>T | CA16027923 | APC | c.2678G>T (n.2678G>T) c.3067G>T (p.Ala1023Ser) c.*3019G>T (n.*3019G>T) c.2959G>T (p.Ala987Ser) c.3013G>T (p.Ala1005Ser) c.1366G>T c.*2335G>T (n.*2335G>T) c.230+9635G>T c.3043G>T (p.Ala1015Ser) c.2938G>T (p.Ala980Ser) c.2929G>T (p.Ala977Ser) c.2890G>T (p.Ala964Ser) c.2836G>T (p.Ala946Ser) c.2740G>T (p.Ala914Ser) c.2710G>T (p.Ala904Ser) c.2635G>T (p.Ala879Ser) c.2533G>T (p.Ala845Ser) c.2164G>T (p.Ala722Ser) | ClinVar |
| 5 | g.112838607_112838608delinsGC | CA1573485421 | APC | c.2678_2679delinsGC (n.2678_2679delinsGC) c.3067_3068delinsGC (p.Ala1023=) c.*3019_*3020delinsGC (n.*3019_*3020delinsGC) c.2959_2960delinsGC (p.Ala987=) c.3013_3014delinsGC (p.Ala1005=) c.1366_1367delinsGC c.*2335_*2336delinsGC (n.*2335_*2336delinsGC) c.230+9635_230+9636delinsGC c.3043_3044delinsGC (p.Ala1015=) c.2938_2939delinsGC (p.Ala980=) c.2929_2930delinsGC (p.Ala977=) c.2890_2891delinsGC (p.Ala964=) c.2836_2837delinsGC (p.Ala946=) c.2740_2741delinsGC (p.Ala914=) c.2710_2711delinsGC (p.Ala904=) c.2635_2636delinsGC (p.Ala879=) c.2533_2534delinsGC (p.Ala845=) c.2164_2165delinsGC (p.Ala722=) | |
| 5 | g.112838608C>A | CA16027924 | APC | c.2679C>A (n.2679C>A) c.3068C>A (p.Ala1023Asp) c.*3020C>A (n.*3020C>A) c.2960C>A (p.Ala987Asp) c.3014C>A (p.Ala1005Asp) c.1367C>A c.*2336C>A (n.*2336C>A) c.230+9636C>A c.3044C>A (p.Ala1015Asp) c.2939C>A (p.Ala980Asp) c.2930C>A (p.Ala977Asp) c.2891C>A (p.Ala964Asp) c.2837C>A (p.Ala946Asp) c.2741C>A (p.Ala914Asp) c.2711C>A (p.Ala904Asp) c.2636C>A (p.Ala879Asp) c.2534C>A (p.Ala845Asp) c.2165C>A (p.Ala722Asp) | dbSNP |
| 5 | g.112838608C= | CA1573485433 | APC | c.2679C= (n.2679C=) c.3068C= (p.Ala1023=) c.*3020C= (n.*3020C=) c.2960C= (p.Ala987=) c.3014C= (p.Ala1005=) c.1367C= c.*2336C= (n.*2336C=) c.230+9636C= c.3044C= (p.Ala1015=) c.2939C= (p.Ala980=) c.2930C= (p.Ala977=) c.2891C= (p.Ala964=) c.2837C= (p.Ala946=) c.2741C= (p.Ala914=) c.2711C= (p.Ala904=) c.2636C= (p.Ala879=) c.2534C= (p.Ala845=) c.2165C= (p.Ala722=) | |
| 5 | g.112838608C>G | CA16027925 | APC | c.2679C>G (n.2679C>G) c.3068C>G (p.Ala1023Gly) c.*3020C>G (n.*3020C>G) c.2960C>G (p.Ala987Gly) c.3014C>G (p.Ala1005Gly) c.1367C>G c.*2336C>G (n.*2336C>G) c.230+9636C>G c.3044C>G (p.Ala1015Gly) c.2939C>G (p.Ala980Gly) c.2930C>G (p.Ala977Gly) c.2891C>G (p.Ala964Gly) c.2837C>G (p.Ala946Gly) c.2741C>G (p.Ala914Gly) c.2711C>G (p.Ala904Gly) c.2636C>G (p.Ala879Gly) c.2534C>G (p.Ala845Gly) c.2165C>G (p.Ala722Gly) | dbSNP |
| 5 | g.112838608C>T | CA10578347 | APC | c.2679C>T (n.2679C>T) c.3068C>T (p.Ala1023Val) c.*3020C>T (n.*3020C>T) c.2960C>T (p.Ala987Val) c.3014C>T (p.Ala1005Val) c.1367C>T c.*2336C>T (n.*2336C>T) c.230+9636C>T c.3044C>T (p.Ala1015Val) c.2939C>T (p.Ala980Val) c.2930C>T (p.Ala977Val) c.2891C>T (p.Ala964Val) c.2837C>T (p.Ala946Val) c.2741C>T (p.Ala914Val) c.2711C>T (p.Ala904Val) c.2636C>T (p.Ala879Val) c.2534C>T (p.Ala845Val) c.2165C>T (p.Ala722Val) | ClinVar dbSNP gnomAD v4 |
| 5 | g.112838610del | CA445963130 | APC | c.2681del (n.2681del) c.3070del (p.His1024IlefsTer16) c.*3022del (n.*3022del) c.2962del (p.His988IlefsTer16) c.3016del (p.His1006IlefsTer16) c.1369del c.*2338del (n.*2338del) c.230+9638del c.3046del (p.His1016IlefsTer16) c.2941del (p.His981IlefsTer16) c.2932del (p.His978IlefsTer16) c.2893del (p.His965IlefsTer16) c.2839del (p.His947IlefsTer16) c.2743del (p.His915IlefsTer16) c.2713del (p.His905IlefsTer16) c.2638del (p.His880IlefsTer16) c.2536del (p.His846IlefsTer16) c.2167del (p.His723IlefsTer16) | ClinVar dbSNP COSMIC |
| 5 | g.112838609C>A | CA445963131 | APC | c.2680C>A (n.2680C>A) c.3069C>A (p.Ala1023=) c.*3021C>A (n.*3021C>A) c.2961C>A (p.Ala987=) c.3015C>A (p.Ala1005=) c.1368C>A c.*2337C>A (n.*2337C>A) c.230+9637C>A c.3045C>A (p.Ala1015=) c.2940C>A (p.Ala980=) c.2931C>A (p.Ala977=) c.2892C>A (p.Ala964=) c.2838C>A (p.Ala946=) c.2742C>A (p.Ala914=) c.2712C>A (p.Ala904=) c.2637C>A (p.Ala879=) c.2535C>A (p.Ala845=) c.2166C>A (p.Ala722=) | |
| 5 | g.112838609C= | CA1573485443 | APC | c.2680C= (n.2680C=) c.3069C= (p.Ala1023=) c.*3021C= (n.*3021C=) c.2961C= (p.Ala987=) c.3015C= (p.Ala1005=) c.1368C= c.*2337C= (n.*2337C=) c.230+9637C= c.3045C= (p.Ala1015=) c.2940C= (p.Ala980=) c.2931C= (p.Ala977=) c.2892C= (p.Ala964=) c.2838C= (p.Ala946=) c.2742C= (p.Ala914=) c.2712C= (p.Ala904=) c.2637C= (p.Ala879=) c.2535C= (p.Ala845=) c.2166C= (p.Ala722=) | |
| 5 | g.112838609C>G | CA445963132 | APC | c.2680C>G (n.2680C>G) c.3069C>G (p.Ala1023=) c.*3021C>G (n.*3021C>G) c.2961C>G (p.Ala987=) c.3015C>G (p.Ala1005=) c.1368C>G c.*2337C>G (n.*2337C>G) c.230+9637C>G c.3045C>G (p.Ala1015=) c.2940C>G (p.Ala980=) c.2931C>G (p.Ala977=) c.2892C>G (p.Ala964=) c.2838C>G (p.Ala946=) c.2742C>G (p.Ala914=) c.2712C>G (p.Ala904=) c.2637C>G (p.Ala879=) c.2535C>G (p.Ala845=) c.2166C>G (p.Ala722=) | ClinVar dbSNP |
| 5 | g.112838609C>T | CA125167772 | APC | c.2680C>T (n.2680C>T) c.3069C>T (p.Ala1023=) c.*3021C>T (n.*3021C>T) c.2961C>T (p.Ala987=) c.3015C>T (p.Ala1005=) c.1368C>T c.*2337C>T (n.*2337C>T) c.230+9637C>T c.3045C>T (p.Ala1015=) c.2940C>T (p.Ala980=) c.2931C>T (p.Ala977=) c.2892C>T (p.Ala964=) c.2838C>T (p.Ala946=) c.2742C>T (p.Ala914=) c.2712C>T (p.Ala904=) c.2637C>T (p.Ala879=) c.2535C>T (p.Ala845=) c.2166C>T (p.Ala722=) | ClinVar dbSNP gnomAD v4 |
| 5 | g.112838610C>A | CA16027926 | APC | c.2681C>A (n.2681C>A) c.3070C>A (p.His1024Asn) c.*3022C>A (n.*3022C>A) c.2962C>A (p.His988Asn) c.3016C>A (p.His1006Asn) c.1369C>A c.*2338C>A (n.*2338C>A) c.230+9638C>A c.3046C>A (p.His1016Asn) c.2941C>A (p.His981Asn) c.2932C>A (p.His978Asn) c.2893C>A (p.His965Asn) c.2839C>A (p.His947Asn) c.2743C>A (p.His915Asn) c.2713C>A (p.His905Asn) c.2638C>A (p.His880Asn) c.2536C>A (p.His846Asn) c.2167C>A (p.His723Asn) | ClinVar dbSNP gnomAD v4 COSMIC |
| 5 | g.112838610C= | CA1573485451 | APC | c.2681C= (n.2681C=) c.3070C= (p.His1024=) c.*3022C= (n.*3022C=) c.2962C= (p.His988=) c.3016C= (p.His1006=) c.1369C= c.*2338C= (n.*2338C=) c.230+9638C= c.3046C= (p.His1016=) c.2941C= (p.His981=) c.2932C= (p.His978=) c.2893C= (p.His965=) c.2839C= (p.His947=) c.2743C= (p.His915=) c.2713C= (p.His905=) c.2638C= (p.His880=) c.2536C= (p.His846=) c.2167C= (p.His723=) | |
| 5 | g.112838610C>G | CA16027927 | APC | c.2681C>G (n.2681C>G) c.3070C>G (p.His1024Asp) c.*3022C>G (n.*3022C>G) c.2962C>G (p.His988Asp) c.3016C>G (p.His1006Asp) c.1369C>G c.*2338C>G (n.*2338C>G) c.230+9638C>G c.3046C>G (p.His1016Asp) c.2941C>G (p.His981Asp) c.2932C>G (p.His978Asp) c.2893C>G (p.His965Asp) c.2839C>G (p.His947Asp) c.2743C>G (p.His915Asp) c.2713C>G (p.His905Asp) c.2638C>G (p.His880Asp) c.2536C>G (p.His846Asp) c.2167C>G (p.His723Asp) | dbSNP |
| 5 | g.112838610C>T | CA10584246 | APC | c.2681C>T (n.2681C>T) c.3070C>T (p.His1024Tyr) c.*3022C>T (n.*3022C>T) c.2962C>T (p.His988Tyr) c.3016C>T (p.His1006Tyr) c.1369C>T c.*2338C>T (n.*2338C>T) c.230+9638C>T c.3046C>T (p.His1016Tyr) c.2941C>T (p.His981Tyr) c.2932C>T (p.His978Tyr) c.2893C>T (p.His965Tyr) c.2839C>T (p.His947Tyr) c.2743C>T (p.His915Tyr) c.2713C>T (p.His905Tyr) c.2638C>T (p.His880Tyr) c.2536C>T (p.His846Tyr) c.2167C>T (p.His723Tyr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.112838611A>C | CA16027928 | APC | c.2682A>C (n.2682A>C) c.3071A>C (p.His1024Pro) c.*3023A>C (n.*3023A>C) c.2963A>C (p.His988Pro) c.3017A>C (p.His1006Pro) c.1370A>C c.*2339A>C (n.*2339A>C) c.230+9639A>C c.3047A>C (p.His1016Pro) c.2942A>C (p.His981Pro) c.2933A>C (p.His978Pro) c.2894A>C (p.His965Pro) c.2840A>C (p.His947Pro) c.2744A>C (p.His915Pro) c.2714A>C (p.His905Pro) c.2639A>C (p.His880Pro) c.2537A>C (p.His846Pro) c.2168A>C (p.His723Pro) | |
| 5 | g.112838611A>G | CA16027929 | APC | c.2682A>G (n.2682A>G) c.3071A>G (p.His1024Arg) c.*3023A>G (n.*3023A>G) c.2963A>G (p.His988Arg) c.3017A>G (p.His1006Arg) c.1370A>G c.*2339A>G (n.*2339A>G) c.230+9639A>G c.3047A>G (p.His1016Arg) c.2942A>G (p.His981Arg) c.2933A>G (p.His978Arg) c.2894A>G (p.His965Arg) c.2840A>G (p.His947Arg) c.2744A>G (p.His915Arg) c.2714A>G (p.His905Arg) c.2639A>G (p.His880Arg) c.2537A>G (p.His846Arg) c.2168A>G (p.His723Arg) | gnomAD v4 |
| 5 | g.112838611A>T | CA16027930 | APC | c.2682A>T (n.2682A>T) c.3071A>T (p.His1024Leu) c.*3023A>T (n.*3023A>T) c.2963A>T (p.His988Leu) c.3017A>T (p.His1006Leu) c.1370A>T c.*2339A>T (n.*2339A>T) c.230+9639A>T c.3047A>T (p.His1016Leu) c.2942A>T (p.His981Leu) c.2933A>T (p.His978Leu) c.2894A>T (p.His965Leu) c.2840A>T (p.His947Leu) c.2744A>T (p.His915Leu) c.2714A>T (p.His905Leu) c.2639A>T (p.His880Leu) c.2537A>T (p.His846Leu) c.2168A>T (p.His723Leu) | dbSNP gnomAD v4 |
| 5 | g.112838612T>A | CA16027931 | APC | c.2683T>A (n.2683T>A) c.3072T>A (p.His1024Gln) c.*3024T>A (n.*3024T>A) c.2964T>A (p.His988Gln) c.3018T>A (p.His1006Gln) c.1371T>A c.*2340T>A (n.*2340T>A) c.230+9640T>A c.3048T>A (p.His1016Gln) c.2943T>A (p.His981Gln) c.2934T>A (p.His978Gln) c.2895T>A (p.His965Gln) c.2841T>A (p.His947Gln) c.2745T>A (p.His915Gln) c.2715T>A (p.His905Gln) c.2640T>A (p.His880Gln) c.2538T>A (p.His846Gln) c.2169T>A (p.His723Gln) | |
| 5 | g.112838612T>C | CA445963133 | APC | c.2683T>C (n.2683T>C) c.3072T>C (p.His1024=) c.*3024T>C (n.*3024T>C) c.2964T>C (p.His988=) c.3018T>C (p.His1006=) c.1371T>C c.*2340T>C (n.*2340T>C) c.230+9640T>C c.3048T>C (p.His1016=) c.2943T>C (p.His981=) c.2934T>C (p.His978=) c.2895T>C (p.His965=) c.2841T>C (p.His947=) c.2745T>C (p.His915=) c.2715T>C (p.His905=) c.2640T>C (p.His880=) c.2538T>C (p.His846=) c.2169T>C (p.His723=) | |
| 5 | g.112838612T>G | CA16027932 | APC | c.2683T>G (n.2683T>G) c.3072T>G (p.His1024Gln) c.*3024T>G (n.*3024T>G) c.2964T>G (p.His988Gln) c.3018T>G (p.His1006Gln) c.1371T>G c.*2340T>G (n.*2340T>G) c.230+9640T>G c.3048T>G (p.His1016Gln) c.2943T>G (p.His981Gln) c.2934T>G (p.His978Gln) c.2895T>G (p.His965Gln) c.2841T>G (p.His947Gln) c.2745T>G (p.His915Gln) c.2715T>G (p.His905Gln) c.2640T>G (p.His880Gln) c.2538T>G (p.His846Gln) c.2169T>G (p.His723Gln) | |
| 5 | g.112838613A>C | CA16027933 | APC | c.2684A>C (n.2684A>C) c.3073A>C (p.Lys1025Gln) c.*3025A>C (n.*3025A>C) c.2965A>C (p.Lys989Gln) c.3019A>C (p.Lys1007Gln) c.1372A>C c.*2341A>C (n.*2341A>C) c.230+9641A>C c.3049A>C (p.Lys1017Gln) c.2944A>C (p.Lys982Gln) c.2935A>C (p.Lys979Gln) c.2896A>C (p.Lys966Gln) c.2842A>C (p.Lys948Gln) c.2746A>C (p.Lys916Gln) c.2716A>C (p.Lys906Gln) c.2641A>C (p.Lys881Gln) c.2539A>C (p.Lys847Gln) c.2170A>C (p.Lys724Gln) | |
| 5 | g.112838613A>G | CA16027934 | APC | c.2684A>G (n.2684A>G) c.3073A>G (p.Lys1025Glu) c.*3025A>G (n.*3025A>G) c.2965A>G (p.Lys989Glu) c.3019A>G (p.Lys1007Glu) c.1372A>G c.*2341A>G (n.*2341A>G) c.230+9641A>G c.3049A>G (p.Lys1017Glu) c.2944A>G (p.Lys982Glu) c.2935A>G (p.Lys979Glu) c.2896A>G (p.Lys966Glu) c.2842A>G (p.Lys948Glu) c.2746A>G (p.Lys916Glu) c.2716A>G (p.Lys906Glu) c.2641A>G (p.Lys881Glu) c.2539A>G (p.Lys847Glu) c.2170A>G (p.Lys724Glu) | ClinVar dbSNP COSMIC |
| 5 | g.112838613A>T | CA16027935 | APC | c.2684A>T (n.2684A>T) c.3073A>T (p.Lys1025Ter) c.*3025A>T (n.*3025A>T) c.2965A>T (p.Lys989Ter) c.3019A>T (p.Lys1007Ter) c.1372A>T c.*2341A>T (n.*2341A>T) c.230+9641A>T c.3049A>T (p.Lys1017Ter) c.2944A>T (p.Lys982Ter) c.2935A>T (p.Lys979Ter) c.2896A>T (p.Lys966Ter) c.2842A>T (p.Lys948Ter) c.2746A>T (p.Lys916Ter) c.2716A>T (p.Lys906Ter) c.2641A>T (p.Lys881Ter) c.2539A>T (p.Lys847Ter) c.2170A>T (p.Lys724Ter) | ClinVar dbSNP COSMIC |
| 5 | g.112838616del | CA445963134 | APC | c.2687del (n.2687del) c.3076del (p.Ile1026TyrfsTer14) c.*3028del (n.*3028del) c.2968del (p.Ile990TyrfsTer14) c.3022del (p.Ile1008TyrfsTer14) c.1375del c.*2344del (n.*2344del) c.230+9644del c.3052del (p.Ile1018TyrfsTer14) c.2947del (p.Ile983TyrfsTer14) c.2938del (p.Ile980TyrfsTer14) c.2899del (p.Ile967TyrfsTer14) c.2845del (p.Ile949TyrfsTer14) c.2749del (p.Ile917TyrfsTer14) c.2719del (p.Ile907TyrfsTer14) c.2644del (p.Ile882TyrfsTer14) c.2542del (p.Ile848TyrfsTer14) c.2173del (p.Ile725TyrfsTer14) | dbSNP COSMIC COSMIC |
| 5 | g.112838614A>C | CA16027936 | APC | c.2685A>C (n.2685A>C) c.3074A>C (p.Lys1025Thr) c.*3026A>C (n.*3026A>C) c.2966A>C (p.Lys989Thr) c.3020A>C (p.Lys1007Thr) c.1373A>C c.*2342A>C (n.*2342A>C) c.230+9642A>C c.3050A>C (p.Lys1017Thr) c.2945A>C (p.Lys982Thr) c.2936A>C (p.Lys979Thr) c.2897A>C (p.Lys966Thr) c.2843A>C (p.Lys948Thr) c.2747A>C (p.Lys916Thr) c.2717A>C (p.Lys906Thr) c.2642A>C (p.Lys881Thr) c.2540A>C (p.Lys847Thr) c.2171A>C (p.Lys724Thr) | |
| 5 | g.112838614A>G | CA16027937 | APC | c.2685A>G (n.2685A>G) c.3074A>G (p.Lys1025Arg) c.*3026A>G (n.*3026A>G) c.2966A>G (p.Lys989Arg) c.3020A>G (p.Lys1007Arg) c.1373A>G c.*2342A>G (n.*2342A>G) c.230+9642A>G c.3050A>G (p.Lys1017Arg) c.2945A>G (p.Lys982Arg) c.2936A>G (p.Lys979Arg) c.2897A>G (p.Lys966Arg) c.2843A>G (p.Lys948Arg) c.2747A>G (p.Lys916Arg) c.2717A>G (p.Lys906Arg) c.2642A>G (p.Lys881Arg) c.2540A>G (p.Lys847Arg) c.2171A>G (p.Lys724Arg) | dbSNP |
| 5 | g.112838614A>T | CA16027938 | APC | c.2685A>T (n.2685A>T) c.3074A>T (p.Lys1025Ile) c.*3026A>T (n.*3026A>T) c.2966A>T (p.Lys989Ile) c.3020A>T (p.Lys1007Ile) c.1373A>T c.*2342A>T (n.*2342A>T) c.230+9642A>T c.3050A>T (p.Lys1017Ile) c.2945A>T (p.Lys982Ile) c.2936A>T (p.Lys979Ile) c.2897A>T (p.Lys966Ile) c.2843A>T (p.Lys948Ile) c.2747A>T (p.Lys916Ile) c.2717A>T (p.Lys906Ile) c.2642A>T (p.Lys881Ile) c.2540A>T (p.Lys847Ile) c.2171A>T (p.Lys724Ile) | |
| 5 | g.112838615A= | CA1573485460 | APC | c.2686A= (n.2686A=) c.3075A= (p.Lys1025=) c.*3027A= (n.*3027A=) c.2967A= (p.Lys989=) c.3021A= (p.Lys1007=) c.1374A= c.*2343A= (n.*2343A=) c.230+9643A= c.3051A= (p.Lys1017=) c.2946A= (p.Lys982=) c.2937A= (p.Lys979=) c.2898A= (p.Lys966=) c.2844A= (p.Lys948=) c.2748A= (p.Lys916=) c.2718A= (p.Lys906=) c.2643A= (p.Lys881=) c.2541A= (p.Lys847=) c.2172A= (p.Lys724=) | |
| 5 | g.112838615A>C | CA16027939 | APC | c.2686A>C (n.2686A>C) c.3075A>C (p.Lys1025Asn) c.*3027A>C (n.*3027A>C) c.2967A>C (p.Lys989Asn) c.3021A>C (p.Lys1007Asn) c.1374A>C c.*2343A>C (n.*2343A>C) c.230+9643A>C c.3051A>C (p.Lys1017Asn) c.2946A>C (p.Lys982Asn) c.2937A>C (p.Lys979Asn) c.2898A>C (p.Lys966Asn) c.2844A>C (p.Lys948Asn) c.2748A>C (p.Lys916Asn) c.2718A>C (p.Lys906Asn) c.2643A>C (p.Lys881Asn) c.2541A>C (p.Lys847Asn) c.2172A>C (p.Lys724Asn) | dbSNP gnomAD v2 |
| 5 | g.112838615A>G | CA10578348 | APC | c.2686A>G (n.2686A>G) c.3075A>G (p.Lys1025=) c.*3027A>G (n.*3027A>G) c.2967A>G (p.Lys989=) c.3021A>G (p.Lys1007=) c.1374A>G c.*2343A>G (n.*2343A>G) c.230+9643A>G c.3051A>G (p.Lys1017=) c.2946A>G (p.Lys982=) c.2937A>G (p.Lys979=) c.2898A>G (p.Lys966=) c.2844A>G (p.Lys948=) c.2748A>G (p.Lys916=) c.2718A>G (p.Lys906=) c.2643A>G (p.Lys881=) c.2541A>G (p.Lys847=) c.2172A>G (p.Lys724=) | ClinVar dbSNP |
| 5 | g.112838615A>T | CA16027940 | APC | c.2686A>T (n.2686A>T) c.3075A>T (p.Lys1025Asn) c.*3027A>T (n.*3027A>T) c.2967A>T (p.Lys989Asn) c.3021A>T (p.Lys1007Asn) c.1374A>T c.*2343A>T (n.*2343A>T) c.230+9643A>T c.3051A>T (p.Lys1017Asn) c.2946A>T (p.Lys982Asn) c.2937A>T (p.Lys979Asn) c.2898A>T (p.Lys966Asn) c.2844A>T (p.Lys948Asn) c.2748A>T (p.Lys916Asn) c.2718A>T (p.Lys906Asn) c.2643A>T (p.Lys881Asn) c.2541A>T (p.Lys847Asn) c.2172A>T (p.Lys724Asn) | dbSNP |
| 5 | g.112838616A= | CA1573485467 | APC | c.2687A= (n.2687A=) c.3076A= (p.Ile1026=) c.*3028A= (n.*3028A=) c.2968A= (p.Ile990=) c.3022A= (p.Ile1008=) c.1375A= c.*2344A= (n.*2344A=) c.230+9644A= c.3052A= (p.Ile1018=) c.2947A= (p.Ile983=) c.2938A= (p.Ile980=) c.2899A= (p.Ile967=) c.2845A= (p.Ile949=) c.2749A= (p.Ile917=) c.2719A= (p.Ile907=) c.2644A= (p.Ile882=) c.2542A= (p.Ile848=) c.2173A= (p.Ile725=) | |
| 5 | g.112838616A>C | CA16027941 | APC | c.2687A>C (n.2687A>C) c.3076A>C (p.Ile1026Leu) c.*3028A>C (n.*3028A>C) c.2968A>C (p.Ile990Leu) c.3022A>C (p.Ile1008Leu) c.1375A>C c.*2344A>C (n.*2344A>C) c.230+9644A>C c.3052A>C (p.Ile1018Leu) c.2947A>C (p.Ile983Leu) c.2938A>C (p.Ile980Leu) c.2899A>C (p.Ile967Leu) c.2845A>C (p.Ile949Leu) c.2749A>C (p.Ile917Leu) c.2719A>C (p.Ile907Leu) c.2644A>C (p.Ile882Leu) c.2542A>C (p.Ile848Leu) c.2173A>C (p.Ile725Leu) | |
| 5 | g.112838616A>G | CA16027942 | APC | c.2687A>G (n.2687A>G) c.3076A>G (p.Ile1026Val) c.*3028A>G (n.*3028A>G) c.2968A>G (p.Ile990Val) c.3022A>G (p.Ile1008Val) c.1375A>G c.*2344A>G (n.*2344A>G) c.230+9644A>G c.3052A>G (p.Ile1018Val) c.2947A>G (p.Ile983Val) c.2938A>G (p.Ile980Val) c.2899A>G (p.Ile967Val) c.2845A>G (p.Ile949Val) c.2749A>G (p.Ile917Val) c.2719A>G (p.Ile907Val) c.2644A>G (p.Ile882Val) c.2542A>G (p.Ile848Val) c.2173A>G (p.Ile725Val) | ClinVar dbSNP gnomAD v4 |
| 5 | g.112838616A>T | CA16027943 | APC | c.2687A>T (n.2687A>T) c.3076A>T (p.Ile1026Leu) c.*3028A>T (n.*3028A>T) c.2968A>T (p.Ile990Leu) c.3022A>T (p.Ile1008Leu) c.1375A>T c.*2344A>T (n.*2344A>T) c.230+9644A>T c.3052A>T (p.Ile1018Leu) c.2947A>T (p.Ile983Leu) c.2938A>T (p.Ile980Leu) c.2899A>T (p.Ile967Leu) c.2845A>T (p.Ile949Leu) c.2749A>T (p.Ile917Leu) c.2719A>T (p.Ile907Leu) c.2644A>T (p.Ile882Leu) c.2542A>T (p.Ile848Leu) c.2173A>T (p.Ile725Leu) | dbSNP |
| 5 | g.112838617T>A | CA16027944 | APC | c.2688T>A (n.2688T>A) c.3077T>A (p.Ile1026Lys) c.*3029T>A (n.*3029T>A) c.2969T>A (p.Ile990Lys) c.3023T>A (p.Ile1008Lys) c.1376T>A c.*2345T>A (n.*2345T>A) c.230+9645T>A c.3053T>A (p.Ile1018Lys) c.2948T>A (p.Ile983Lys) c.2939T>A (p.Ile980Lys) c.2900T>A (p.Ile967Lys) c.2846T>A (p.Ile949Lys) c.2750T>A (p.Ile917Lys) c.2720T>A (p.Ile907Lys) c.2645T>A (p.Ile882Lys) c.2543T>A (p.Ile848Lys) c.2174T>A (p.Ile725Lys) | dbSNP |
| 5 | g.112838617T>C | CA16027945 | APC | c.2688T>C (n.2688T>C) c.3077T>C (p.Ile1026Thr) c.*3029T>C (n.*3029T>C) c.2969T>C (p.Ile990Thr) c.3023T>C (p.Ile1008Thr) c.1376T>C c.*2345T>C (n.*2345T>C) c.230+9645T>C c.3053T>C (p.Ile1018Thr) c.2948T>C (p.Ile983Thr) c.2939T>C (p.Ile980Thr) c.2900T>C (p.Ile967Thr) c.2846T>C (p.Ile949Thr) c.2750T>C (p.Ile917Thr) c.2720T>C (p.Ile907Thr) c.2645T>C (p.Ile882Thr) c.2543T>C (p.Ile848Thr) c.2174T>C (p.Ile725Thr) | dbSNP |