| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.112838502_112838504del | CA033883 | APC | c.2573_2575del (n.2573_2575del) c.2962_2964del (p.Ser988del) c.*2914_*2916del (n.*2914_*2916del) c.2854_2856del (p.Ser952del) c.2908_2910del (p.Ser970del) c.1261_1263del c.*2230_*2232del (n.*2230_*2232del) c.230+9530_230+9532del c.2938_2940del (p.Ser980del) c.2833_2835del (p.Ser945del) c.2824_2826del (p.Ser942del) c.2785_2787del (p.Ser929del) c.2731_2733del (p.Ser911del) c.2635_2637del (p.Ser879del) c.2605_2607del (p.Ser869del) c.2530_2532del (p.Ser844del) c.2428_2430del (p.Ser810del) c.2059_2061del (p.Ser687del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.112838501_112838505dup | CA2582341449 | APC | c.2572_2576dup (n.2572_2576dup) c.2961_2965dup (p.Asp989ValfsTer11) c.*2913_*2917dup (n.*2913_*2917dup) c.2853_2857dup (p.Asp953ValfsTer11) c.2907_2911dup (p.Asp971ValfsTer11) c.1260_1264dup c.*2229_*2233dup (n.*2229_*2233dup) c.230+9529_230+9533dup c.2937_2941dup (p.Asp981ValfsTer11) c.2832_2836dup (p.Asp946ValfsTer11) c.2823_2827dup (p.Asp943ValfsTer11) c.2784_2788dup (p.Asp930ValfsTer11) c.2730_2734dup (p.Asp912ValfsTer11) c.2634_2638dup (p.Asp880ValfsTer11) c.2604_2608dup (p.Asp870ValfsTer11) c.2529_2533dup (p.Asp845ValfsTer11) c.2427_2431dup (p.Asp811ValfsTer11) c.2058_2062dup (p.Asp688ValfsTer11) | ClinVar |
| 5 | g.112838502_112838504delinsAGT | CA1573484803 | APC | c.2573_2575delinsAGT (n.2573_2575delinsAGT) c.2962_2964delinsAGT (p.Ser988=) c.*2914_*2916delinsAGT (n.*2914_*2916delinsAGT) c.2854_2856delinsAGT (p.Ser952=) c.2908_2910delinsAGT (p.Ser970=) c.1261_1263delinsAGT c.*2230_*2232delinsAGT (n.*2230_*2232delinsAGT) c.230+9530_230+9532delinsAGT c.2938_2940delinsAGT (p.Ser980=) c.2833_2835delinsAGT (p.Ser945=) c.2824_2826delinsAGT (p.Ser942=) c.2785_2787delinsAGT (p.Ser929=) c.2731_2733delinsAGT (p.Ser911=) c.2635_2637delinsAGT (p.Ser879=) c.2605_2607delinsAGT (p.Ser869=) c.2530_2532delinsAGT (p.Ser844=) c.2428_2430delinsAGT (p.Ser810=) c.2059_2061delinsAGT (p.Ser687=) | |
| 5 | g.112838503_112838505del | CA2697546210 | APC | c.2574_2576del (n.2574_2576del) c.2963_2965del (p.Ser988_Asp989delinsAsn) c.*2915_*2917del (n.*2915_*2917del) c.2855_2857del (p.Ser952_Asp953delinsAsn) c.2909_2911del (p.Ser970_Asp971delinsAsn) c.1262_1264del c.*2231_*2233del (n.*2231_*2233del) c.230+9531_230+9533del c.2939_2941del (p.Ser980_Asp981delinsAsn) c.2834_2836del (p.Ser945_Asp946delinsAsn) c.2825_2827del (p.Ser942_Asp943delinsAsn) c.2786_2788del (p.Ser929_Asp930delinsAsn) c.2732_2734del (p.Ser911_Asp912delinsAsn) c.2636_2638del (p.Ser879_Asp880delinsAsn) c.2606_2608del (p.Ser869_Asp870delinsAsn) c.2531_2533del (p.Ser844_Asp845delinsAsn) c.2429_2431del (p.Ser810_Asp811delinsAsn) c.2060_2062del (p.Ser687_Asp688delinsAsn) | ClinVar |
| 5 | g.112838504_112838505del | CA16611800 | APC | c.2575_2576del (n.2575_2576del) c.2964_2965del (p.Ser988ArgfsTer5) c.*2916_*2917del (n.*2916_*2917del) c.2856_2857del (p.Ser952ArgfsTer5) c.2910_2911del (p.Ser970ArgfsTer5) c.1263_1264del c.*2232_*2233del (n.*2232_*2233del) c.230+9532_230+9533del c.2940_2941del (p.Ser980ArgfsTer5) c.2835_2836del (p.Ser945ArgfsTer5) c.2826_2827del (p.Ser942ArgfsTer5) c.2787_2788del (p.Ser929ArgfsTer5) c.2733_2734del (p.Ser911ArgfsTer5) c.2637_2638del (p.Ser879ArgfsTer5) c.2607_2608del (p.Ser869ArgfsTer5) c.2532_2533del (p.Ser844ArgfsTer5) c.2430_2431del (p.Ser810ArgfsTer5) c.2061_2062del (p.Ser687ArgfsTer5) | ClinVar dbSNP |
| 5 | g.112838504T>A | CA16027688 | APC | c.2575T>A (n.2575T>A) c.2964T>A (p.Ser988Arg) c.*2916T>A (n.*2916T>A) c.2856T>A (p.Ser952Arg) c.2910T>A (p.Ser970Arg) c.1263T>A c.*2232T>A (n.*2232T>A) c.230+9532T>A c.2940T>A (p.Ser980Arg) c.2835T>A (p.Ser945Arg) c.2826T>A (p.Ser942Arg) c.2787T>A (p.Ser929Arg) c.2733T>A (p.Ser911Arg) c.2637T>A (p.Ser879Arg) c.2607T>A (p.Ser869Arg) c.2532T>A (p.Ser844Arg) c.2430T>A (p.Ser810Arg) c.2061T>A (p.Ser687Arg) | dbSNP |
| 5 | g.112838504T>C | CA445963064 | APC | c.2575T>C (n.2575T>C) c.2964T>C (p.Ser988=) c.*2916T>C (n.*2916T>C) c.2856T>C (p.Ser952=) c.2910T>C (p.Ser970=) c.1263T>C c.*2232T>C (n.*2232T>C) c.230+9532T>C c.2940T>C (p.Ser980=) c.2835T>C (p.Ser945=) c.2826T>C (p.Ser942=) c.2787T>C (p.Ser929=) c.2733T>C (p.Ser911=) c.2637T>C (p.Ser879=) c.2607T>C (p.Ser869=) c.2532T>C (p.Ser844=) c.2430T>C (p.Ser810=) c.2061T>C (p.Ser687=) | |
| 5 | g.112838504T>G | CA16027689 | APC | c.2575T>G (n.2575T>G) c.2964T>G (p.Ser988Arg) c.*2916T>G (n.*2916T>G) c.2856T>G (p.Ser952Arg) c.2910T>G (p.Ser970Arg) c.1263T>G c.*2232T>G (n.*2232T>G) c.230+9532T>G c.2940T>G (p.Ser980Arg) c.2835T>G (p.Ser945Arg) c.2826T>G (p.Ser942Arg) c.2787T>G (p.Ser929Arg) c.2733T>G (p.Ser911Arg) c.2637T>G (p.Ser879Arg) c.2607T>G (p.Ser869Arg) c.2532T>G (p.Ser844Arg) c.2430T>G (p.Ser810Arg) c.2061T>G (p.Ser687Arg) | |
| 5 | g.112838505G>A | CA16027690 | APC | c.2576G>A (n.2576G>A) c.2965G>A (p.Asp989Asn) c.*2917G>A (n.*2917G>A) c.2857G>A (p.Asp953Asn) c.2911G>A (p.Asp971Asn) c.1264G>A c.*2233G>A (n.*2233G>A) c.230+9533G>A c.2941G>A (p.Asp981Asn) c.2836G>A (p.Asp946Asn) c.2827G>A (p.Asp943Asn) c.2788G>A (p.Asp930Asn) c.2734G>A (p.Asp912Asn) c.2638G>A (p.Asp880Asn) c.2608G>A (p.Asp870Asn) c.2533G>A (p.Asp845Asn) c.2431G>A (p.Asp811Asn) c.2062G>A (p.Asp688Asn) | |
| 5 | g.112838505G>C | CA16027691 | APC | c.2576G>C (n.2576G>C) c.2965G>C (p.Asp989His) c.*2917G>C (n.*2917G>C) c.2857G>C (p.Asp953His) c.2911G>C (p.Asp971His) c.1264G>C c.*2233G>C (n.*2233G>C) c.230+9533G>C c.2941G>C (p.Asp981His) c.2836G>C (p.Asp946His) c.2827G>C (p.Asp943His) c.2788G>C (p.Asp930His) c.2734G>C (p.Asp912His) c.2638G>C (p.Asp880His) c.2608G>C (p.Asp870His) c.2533G>C (p.Asp845His) c.2431G>C (p.Asp811His) c.2062G>C (p.Asp688His) | |
| 5 | g.112838505G>T | CA16027692 | APC | c.2576G>T (n.2576G>T) c.2965G>T (p.Asp989Tyr) c.*2917G>T (n.*2917G>T) c.2857G>T (p.Asp953Tyr) c.2911G>T (p.Asp971Tyr) c.1264G>T c.*2233G>T (n.*2233G>T) c.230+9533G>T c.2941G>T (p.Asp981Tyr) c.2836G>T (p.Asp946Tyr) c.2827G>T (p.Asp943Tyr) c.2788G>T (p.Asp930Tyr) c.2734G>T (p.Asp912Tyr) c.2638G>T (p.Asp880Tyr) c.2608G>T (p.Asp870Tyr) c.2533G>T (p.Asp845Tyr) c.2431G>T (p.Asp811Tyr) c.2062G>T (p.Asp688Tyr) | |
| 5 | g.112838506A>C | CA16027693 | APC | c.2577A>C (n.2577A>C) c.2966A>C (p.Asp989Ala) c.*2918A>C (n.*2918A>C) c.2858A>C (p.Asp953Ala) c.2912A>C (p.Asp971Ala) c.1265A>C c.*2234A>C (n.*2234A>C) c.230+9534A>C c.2942A>C (p.Asp981Ala) c.2837A>C (p.Asp946Ala) c.2828A>C (p.Asp943Ala) c.2789A>C (p.Asp930Ala) c.2735A>C (p.Asp912Ala) c.2639A>C (p.Asp880Ala) c.2609A>C (p.Asp870Ala) c.2534A>C (p.Asp845Ala) c.2432A>C (p.Asp811Ala) c.2063A>C (p.Asp688Ala) | dbSNP |
| 5 | g.112838506A>G | CA16027694 | APC | c.2577A>G (n.2577A>G) c.2966A>G (p.Asp989Gly) c.*2918A>G (n.*2918A>G) c.2858A>G (p.Asp953Gly) c.2912A>G (p.Asp971Gly) c.1265A>G c.*2234A>G (n.*2234A>G) c.230+9534A>G c.2942A>G (p.Asp981Gly) c.2837A>G (p.Asp946Gly) c.2828A>G (p.Asp943Gly) c.2789A>G (p.Asp930Gly) c.2735A>G (p.Asp912Gly) c.2639A>G (p.Asp880Gly) c.2609A>G (p.Asp870Gly) c.2534A>G (p.Asp845Gly) c.2432A>G (p.Asp811Gly) c.2063A>G (p.Asp688Gly) | dbSNP |
| 5 | g.112838506A>T | CA16027695 | APC | c.2577A>T (n.2577A>T) c.2966A>T (p.Asp989Val) c.*2918A>T (n.*2918A>T) c.2858A>T (p.Asp953Val) c.2912A>T (p.Asp971Val) c.1265A>T c.*2234A>T (n.*2234A>T) c.230+9534A>T c.2942A>T (p.Asp981Val) c.2837A>T (p.Asp946Val) c.2828A>T (p.Asp943Val) c.2789A>T (p.Asp930Val) c.2735A>T (p.Asp912Val) c.2639A>T (p.Asp880Val) c.2609A>T (p.Asp870Val) c.2534A>T (p.Asp845Val) c.2432A>T (p.Asp811Val) c.2063A>T (p.Asp688Val) | dbSNP |
| 5 | g.112838506dup | CA2580072816 | APC | c.2577dup (n.2577dup) c.2966dup (p.Asp989GlufsTer5) c.*2918dup (n.*2918dup) c.2858dup (p.Asp953GlufsTer5) c.2912dup (p.Asp971GlufsTer5) c.1265dup c.*2234dup (n.*2234dup) c.230+9534dup c.2942dup (p.Asp981GlufsTer5) c.2837dup (p.Asp946GlufsTer5) c.2828dup (p.Asp943GlufsTer5) c.2789dup (p.Asp930GlufsTer5) c.2735dup (p.Asp912GlufsTer5) c.2639dup (p.Asp880GlufsTer5) c.2609dup (p.Asp870GlufsTer5) c.2534dup (p.Asp845GlufsTer5) c.2432dup (p.Asp811GlufsTer5) c.2063dup (p.Asp688GlufsTer5) | ClinVar |
| 5 | g.112838507T>A | CA16027696 | APC | c.2578T>A (n.2578T>A) c.2967T>A (p.Asp989Glu) c.*2919T>A (n.*2919T>A) c.2859T>A (p.Asp953Glu) c.2913T>A (p.Asp971Glu) c.1266T>A c.*2235T>A (n.*2235T>A) c.230+9535T>A c.2943T>A (p.Asp981Glu) c.2838T>A (p.Asp946Glu) c.2829T>A (p.Asp943Glu) c.2790T>A (p.Asp930Glu) c.2736T>A (p.Asp912Glu) c.2640T>A (p.Asp880Glu) c.2610T>A (p.Asp870Glu) c.2535T>A (p.Asp845Glu) c.2433T>A (p.Asp811Glu) c.2064T>A (p.Asp688Glu) | ClinVar dbSNP |
| 5 | g.112838507T>C | CA125167770 | APC | c.2578T>C (n.2578T>C) c.2967T>C (p.Asp989=) c.*2919T>C (n.*2919T>C) c.2859T>C (p.Asp953=) c.2913T>C (p.Asp971=) c.1266T>C c.*2235T>C (n.*2235T>C) c.230+9535T>C c.2943T>C (p.Asp981=) c.2838T>C (p.Asp946=) c.2829T>C (p.Asp943=) c.2790T>C (p.Asp930=) c.2736T>C (p.Asp912=) c.2640T>C (p.Asp880=) c.2610T>C (p.Asp870=) c.2535T>C (p.Asp845=) c.2433T>C (p.Asp811=) c.2064T>C (p.Asp688=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.112838507T>G | CA16027697 | APC | c.2578T>G (n.2578T>G) c.2967T>G (p.Asp989Glu) c.*2919T>G (n.*2919T>G) c.2859T>G (p.Asp953Glu) c.2913T>G (p.Asp971Glu) c.1266T>G c.*2235T>G (n.*2235T>G) c.230+9535T>G c.2943T>G (p.Asp981Glu) c.2838T>G (p.Asp946Glu) c.2829T>G (p.Asp943Glu) c.2790T>G (p.Asp930Glu) c.2736T>G (p.Asp912Glu) c.2640T>G (p.Asp880Glu) c.2610T>G (p.Asp870Glu) c.2535T>G (p.Asp845Glu) c.2433T>G (p.Asp811Glu) c.2064T>G (p.Asp688Glu) | dbSNP |
| 5 | g.112838507T= | CA1573484846 | APC | c.2578T= (n.2578T=) c.2967T= (p.Asp989=) c.*2919T= (n.*2919T=) c.2859T= (p.Asp953=) c.2913T= (p.Asp971=) c.1266T= c.*2235T= (n.*2235T=) c.230+9535T= c.2943T= (p.Asp981=) c.2838T= (p.Asp946=) c.2829T= (p.Asp943=) c.2790T= (p.Asp930=) c.2736T= (p.Asp912=) c.2640T= (p.Asp880=) c.2610T= (p.Asp870=) c.2535T= (p.Asp845=) c.2433T= (p.Asp811=) c.2064T= (p.Asp688=) | |
| 5 | g.112838508G>A | CA033918 | APC | c.2579G>A (n.2579G>A) c.2968G>A (p.Gly990Ser) c.*2920G>A (n.*2920G>A) c.2860G>A (p.Gly954Ser) c.2914G>A (p.Gly972Ser) c.1267G>A c.*2236G>A (n.*2236G>A) c.230+9536G>A c.2944G>A (p.Gly982Ser) c.2839G>A (p.Gly947Ser) c.2830G>A (p.Gly944Ser) c.2791G>A (p.Gly931Ser) c.2737G>A (p.Gly913Ser) c.2641G>A (p.Gly881Ser) c.2611G>A (p.Gly871Ser) c.2536G>A (p.Gly846Ser) c.2434G>A (p.Gly812Ser) c.2065G>A (p.Gly689Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.112838508G>C | CA16027698 | APC | c.2579G>C (n.2579G>C) c.2968G>C (p.Gly990Arg) c.*2920G>C (n.*2920G>C) c.2860G>C (p.Gly954Arg) c.2914G>C (p.Gly972Arg) c.1267G>C c.*2236G>C (n.*2236G>C) c.230+9536G>C c.2944G>C (p.Gly982Arg) c.2839G>C (p.Gly947Arg) c.2830G>C (p.Gly944Arg) c.2791G>C (p.Gly931Arg) c.2737G>C (p.Gly913Arg) c.2641G>C (p.Gly881Arg) c.2611G>C (p.Gly871Arg) c.2536G>C (p.Gly846Arg) c.2434G>C (p.Gly812Arg) c.2065G>C (p.Gly689Arg) | ClinVar dbSNP |
| 5 | g.112838508G= | CA1573484852 | APC | c.2579G= (n.2579G=) c.2968G= (p.Gly990=) c.*2920G= (n.*2920G=) c.2860G= (p.Gly954=) c.2914G= (p.Gly972=) c.1267G= c.*2236G= (n.*2236G=) c.230+9536G= c.2944G= (p.Gly982=) c.2839G= (p.Gly947=) c.2830G= (p.Gly944=) c.2791G= (p.Gly931=) c.2737G= (p.Gly913=) c.2641G= (p.Gly881=) c.2611G= (p.Gly871=) c.2536G= (p.Gly846=) c.2434G= (p.Gly812=) c.2065G= (p.Gly689=) | |
| 5 | g.112838508G>T | CA16027699 | APC | c.2579G>T (n.2579G>T) c.2968G>T (p.Gly990Cys) c.*2920G>T (n.*2920G>T) c.2860G>T (p.Gly954Cys) c.2914G>T (p.Gly972Cys) c.1267G>T c.*2236G>T (n.*2236G>T) c.230+9536G>T c.2944G>T (p.Gly982Cys) c.2839G>T (p.Gly947Cys) c.2830G>T (p.Gly944Cys) c.2791G>T (p.Gly931Cys) c.2737G>T (p.Gly913Cys) c.2641G>T (p.Gly881Cys) c.2611G>T (p.Gly871Cys) c.2536G>T (p.Gly846Cys) c.2434G>T (p.Gly812Cys) c.2065G>T (p.Gly689Cys) | dbSNP |
| 5 | g.112838509del | CA2695204879 | APC | c.2580del (n.2580del) c.2969del (p.Gly990ValfsTer8) c.*2921del (n.*2921del) c.2861del (p.Gly954ValfsTer8) c.2915del (p.Gly972ValfsTer8) c.1268del c.*2237del (n.*2237del) c.230+9537del c.2945del (p.Gly982ValfsTer8) c.2840del (p.Gly947ValfsTer8) c.2831del (p.Gly944ValfsTer8) c.2792del (p.Gly931ValfsTer8) c.2738del (p.Gly913ValfsTer8) c.2642del (p.Gly881ValfsTer8) c.2612del (p.Gly871ValfsTer8) c.2537del (p.Gly846ValfsTer8) c.2435del (p.Gly812ValfsTer8) c.2066del (p.Gly689ValfsTer8) | |
| 5 | g.112838508_112838509insTAAC | CA658760851 | APC | c.2579_2580insTAAC (n.2579_2580insTAAC) c.2968_2969insTAAC (p.Gly990ValfsTer5) c.*2920_*2921insTAAC (n.*2920_*2921insTAAC) c.2860_2861insTAAC (p.Gly954ValfsTer5) c.2914_2915insTAAC (p.Gly972ValfsTer5) c.1267_1268insTAAC c.*2236_*2237insTAAC (n.*2236_*2237insTAAC) c.230+9536_230+9537insTAAC c.2944_2945insTAAC (p.Gly982ValfsTer5) c.2839_2840insTAAC (p.Gly947ValfsTer5) c.2830_2831insTAAC (p.Gly944ValfsTer5) c.2791_2792insTAAC (p.Gly931ValfsTer5) c.2737_2738insTAAC (p.Gly913ValfsTer5) c.2641_2642insTAAC (p.Gly881ValfsTer5) c.2611_2612insTAAC (p.Gly871ValfsTer5) c.2536_2537insTAAC (p.Gly846ValfsTer5) c.2434_2435insTAAC (p.Gly812ValfsTer5) c.2065_2066insTAAC (p.Gly689ValfsTer5) | |
| 5 | g.112838509G>A | CA16027700 | APC | c.2580G>A (n.2580G>A) c.2969G>A (p.Gly990Asp) c.*2921G>A (n.*2921G>A) c.2861G>A (p.Gly954Asp) c.2915G>A (p.Gly972Asp) c.1268G>A c.*2237G>A (n.*2237G>A) c.230+9537G>A c.2945G>A (p.Gly982Asp) c.2840G>A (p.Gly947Asp) c.2831G>A (p.Gly944Asp) c.2792G>A (p.Gly931Asp) c.2738G>A (p.Gly913Asp) c.2642G>A (p.Gly881Asp) c.2612G>A (p.Gly871Asp) c.2537G>A (p.Gly846Asp) c.2435G>A (p.Gly812Asp) c.2066G>A (p.Gly689Asp) | |
| 5 | g.112838509G>C | CA16027701 | APC | c.2580G>C (n.2580G>C) c.2969G>C (p.Gly990Ala) c.*2921G>C (n.*2921G>C) c.2861G>C (p.Gly954Ala) c.2915G>C (p.Gly972Ala) c.1268G>C c.*2237G>C (n.*2237G>C) c.230+9537G>C c.2945G>C (p.Gly982Ala) c.2840G>C (p.Gly947Ala) c.2831G>C (p.Gly944Ala) c.2792G>C (p.Gly931Ala) c.2738G>C (p.Gly913Ala) c.2642G>C (p.Gly881Ala) c.2612G>C (p.Gly871Ala) c.2537G>C (p.Gly846Ala) c.2435G>C (p.Gly812Ala) c.2066G>C (p.Gly689Ala) | |
| 5 | g.112838509G>T | CA16027702 | APC | c.2580G>T (n.2580G>T) c.2969G>T (p.Gly990Val) c.*2921G>T (n.*2921G>T) c.2861G>T (p.Gly954Val) c.2915G>T (p.Gly972Val) c.1268G>T c.*2237G>T (n.*2237G>T) c.230+9537G>T c.2945G>T (p.Gly982Val) c.2840G>T (p.Gly947Val) c.2831G>T (p.Gly944Val) c.2792G>T (p.Gly931Val) c.2738G>T (p.Gly913Val) c.2642G>T (p.Gly881Val) c.2612G>T (p.Gly871Val) c.2537G>T (p.Gly846Val) c.2435G>T (p.Gly812Val) c.2066G>T (p.Gly689Val) | |
| 5 | g.112838509_112838510del | CA2582341453 | APC | c.2580_2581del (n.2580_2581del) c.2969_2970del (p.Gly990ValfsTer3) c.*2921_*2922del (n.*2921_*2922del) c.2861_2862del (p.Gly954ValfsTer3) c.2915_2916del (p.Gly972ValfsTer3) c.1268_1269del c.*2237_*2238del (n.*2237_*2238del) c.230+9537_230+9538del c.2945_2946del (p.Gly982ValfsTer3) c.2840_2841del (p.Gly947ValfsTer3) c.2831_2832del (p.Gly944ValfsTer3) c.2792_2793del (p.Gly931ValfsTer3) c.2738_2739del (p.Gly913ValfsTer3) c.2642_2643del (p.Gly881ValfsTer3) c.2612_2613del (p.Gly871ValfsTer3) c.2537_2538del (p.Gly846ValfsTer3) c.2435_2436del (p.Gly812ValfsTer3) c.2066_2067del (p.Gly689ValfsTer3) | ClinVar |
| 5 | g.112838509_112838510delinsTAA | CA658760850 | APC | c.2580_2581delinsTAA (n.2580_2581delinsTAA) c.2969_2970delinsTAA (p.Gly990ValfsTer4) c.*2921_*2922delinsTAA (n.*2921_*2922delinsTAA) c.2861_2862delinsTAA (p.Gly954ValfsTer4) c.2915_2916delinsTAA (p.Gly972ValfsTer4) c.1268_1269delinsTAA c.*2237_*2238delinsTAA (n.*2237_*2238delinsTAA) c.230+9537_230+9538delinsTAA c.2945_2946delinsTAA (p.Gly982ValfsTer4) c.2840_2841delinsTAA (p.Gly947ValfsTer4) c.2831_2832delinsTAA (p.Gly944ValfsTer4) c.2792_2793delinsTAA (p.Gly931ValfsTer4) c.2738_2739delinsTAA (p.Gly913ValfsTer4) c.2642_2643delinsTAA (p.Gly881ValfsTer4) c.2612_2613delinsTAA (p.Gly871ValfsTer4) c.2537_2538delinsTAA (p.Gly846ValfsTer4) c.2435_2436delinsTAA (p.Gly812ValfsTer4) c.2066_2067delinsTAA (p.Gly689ValfsTer4) | |
| 5 | g.112838510T>A | CA445963065 | APC | c.2581T>A (n.2581T>A) c.2970T>A (p.Gly990=) c.*2922T>A (n.*2922T>A) c.2862T>A (p.Gly954=) c.2916T>A (p.Gly972=) c.1269T>A c.*2238T>A (n.*2238T>A) c.230+9538T>A c.2946T>A (p.Gly982=) c.2841T>A (p.Gly947=) c.2832T>A (p.Gly944=) c.2793T>A (p.Gly931=) c.2739T>A (p.Gly913=) c.2643T>A (p.Gly881=) c.2613T>A (p.Gly871=) c.2538T>A (p.Gly846=) c.2436T>A (p.Gly812=) c.2067T>A (p.Gly689=) | dbSNP |
| 5 | g.112838510T>C | CA445963066 | APC | c.2581T>C (n.2581T>C) c.2970T>C (p.Gly990=) c.*2922T>C (n.*2922T>C) c.2862T>C (p.Gly954=) c.2916T>C (p.Gly972=) c.1269T>C c.*2238T>C (n.*2238T>C) c.230+9538T>C c.2946T>C (p.Gly982=) c.2841T>C (p.Gly947=) c.2832T>C (p.Gly944=) c.2793T>C (p.Gly931=) c.2739T>C (p.Gly913=) c.2643T>C (p.Gly881=) c.2613T>C (p.Gly871=) c.2538T>C (p.Gly846=) c.2436T>C (p.Gly812=) c.2067T>C (p.Gly689=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.112838510T>G | CA445963067 | APC | c.2581T>G (n.2581T>G) c.2970T>G (p.Gly990=) c.*2922T>G (n.*2922T>G) c.2862T>G (p.Gly954=) c.2916T>G (p.Gly972=) c.1269T>G c.*2238T>G (n.*2238T>G) c.230+9538T>G c.2946T>G (p.Gly982=) c.2841T>G (p.Gly947=) c.2832T>G (p.Gly944=) c.2793T>G (p.Gly931=) c.2739T>G (p.Gly913=) c.2643T>G (p.Gly881=) c.2613T>G (p.Gly871=) c.2538T>G (p.Gly846=) c.2436T>G (p.Gly812=) c.2067T>G (p.Gly689=) | dbSNP |
| 5 | g.112838510T= | CA1573484863 | APC | c.2581T= (n.2581T=) c.2970T= (p.Gly990=) c.*2922T= (n.*2922T=) c.2862T= (p.Gly954=) c.2916T= (p.Gly972=) c.1269T= c.*2238T= (n.*2238T=) c.230+9538T= c.2946T= (p.Gly982=) c.2841T= (p.Gly947=) c.2832T= (p.Gly944=) c.2793T= (p.Gly931=) c.2739T= (p.Gly913=) c.2643T= (p.Gly881=) c.2613T= (p.Gly871=) c.2538T= (p.Gly846=) c.2436T= (p.Gly812=) c.2067T= (p.Gly689=) | |
| 5 | g.112838511dup | CA2582341454 | APC | c.2582dup (n.2582dup) c.2971dup (p.Tyr991LeufsTer3) c.*2923dup (n.*2923dup) c.2863dup (p.Tyr955LeufsTer3) c.2917dup (p.Tyr973LeufsTer3) c.1270dup c.*2239dup (n.*2239dup) c.230+9539dup c.2947dup (p.Tyr983LeufsTer3) c.2842dup (p.Tyr948LeufsTer3) c.2833dup (p.Tyr945LeufsTer3) c.2794dup (p.Tyr932LeufsTer3) c.2740dup (p.Tyr914LeufsTer3) c.2644dup (p.Tyr882LeufsTer3) c.2614dup (p.Tyr872LeufsTer3) c.2539dup (p.Tyr847LeufsTer3) c.2437dup (p.Tyr813LeufsTer3) c.2068dup (p.Tyr690LeufsTer3) | ClinVar |
| 5 | g.112838511T>A | CA16027703 | APC | c.2582T>A (n.2582T>A) c.2971T>A (p.Tyr991Asn) c.*2923T>A (n.*2923T>A) c.2863T>A (p.Tyr955Asn) c.2917T>A (p.Tyr973Asn) c.1270T>A c.*2239T>A (n.*2239T>A) c.230+9539T>A c.2947T>A (p.Tyr983Asn) c.2842T>A (p.Tyr948Asn) c.2833T>A (p.Tyr945Asn) c.2794T>A (p.Tyr932Asn) c.2740T>A (p.Tyr914Asn) c.2644T>A (p.Tyr882Asn) c.2614T>A (p.Tyr872Asn) c.2539T>A (p.Tyr847Asn) c.2437T>A (p.Tyr813Asn) c.2068T>A (p.Tyr690Asn) | dbSNP |
| 5 | g.112838511T>C | CA16027704 | APC | c.2582T>C (n.2582T>C) c.2971T>C (p.Tyr991His) c.*2923T>C (n.*2923T>C) c.2863T>C (p.Tyr955His) c.2917T>C (p.Tyr973His) c.1270T>C c.*2239T>C (n.*2239T>C) c.230+9539T>C c.2947T>C (p.Tyr983His) c.2842T>C (p.Tyr948His) c.2833T>C (p.Tyr945His) c.2794T>C (p.Tyr932His) c.2740T>C (p.Tyr914His) c.2644T>C (p.Tyr882His) c.2614T>C (p.Tyr872His) c.2539T>C (p.Tyr847His) c.2437T>C (p.Tyr813His) c.2068T>C (p.Tyr690His) | dbSNP |
| 5 | g.112838511T>G | CA16027705 | APC | c.2582T>G (n.2582T>G) c.2971T>G (p.Tyr991Asp) c.*2923T>G (n.*2923T>G) c.2863T>G (p.Tyr955Asp) c.2917T>G (p.Tyr973Asp) c.1270T>G c.*2239T>G (n.*2239T>G) c.230+9539T>G c.2947T>G (p.Tyr983Asp) c.2842T>G (p.Tyr948Asp) c.2833T>G (p.Tyr945Asp) c.2794T>G (p.Tyr932Asp) c.2740T>G (p.Tyr914Asp) c.2644T>G (p.Tyr882Asp) c.2614T>G (p.Tyr872Asp) c.2539T>G (p.Tyr847Asp) c.2437T>G (p.Tyr813Asp) c.2068T>G (p.Tyr690Asp) | |
| 5 | g.112838512del | CA2709983153 | APC | c.2583del (n.2583del) c.2972del (p.Tyr991LeufsTer7) c.*2924del (n.*2924del) c.2864del (p.Tyr955LeufsTer7) c.2918del (p.Tyr973LeufsTer7) c.1271del c.*2240del (n.*2240del) c.230+9540del c.2948del (p.Tyr983LeufsTer7) c.2843del (p.Tyr948LeufsTer7) c.2834del (p.Tyr945LeufsTer7) c.2795del (p.Tyr932LeufsTer7) c.2741del (p.Tyr914LeufsTer7) c.2645del (p.Tyr882LeufsTer7) c.2615del (p.Tyr872LeufsTer7) c.2540del (p.Tyr847LeufsTer7) c.2438del (p.Tyr813LeufsTer7) c.2069del (p.Tyr690LeufsTer7) | dbSNP |
| 5 | g.112838512A= | CA1573484871 | APC | c.2583A= (n.2583A=) c.2972A= (p.Tyr991=) c.*2924A= (n.*2924A=) c.2864A= (p.Tyr955=) c.2918A= (p.Tyr973=) c.1271A= c.*2240A= (n.*2240A=) c.230+9540A= c.2948A= (p.Tyr983=) c.2843A= (p.Tyr948=) c.2834A= (p.Tyr945=) c.2795A= (p.Tyr932=) c.2741A= (p.Tyr914=) c.2645A= (p.Tyr882=) c.2615A= (p.Tyr872=) c.2540A= (p.Tyr847=) c.2438A= (p.Tyr813=) c.2069A= (p.Tyr690=) | |
| 5 | g.112838512A>C | CA16027706 | APC | c.2583A>C (n.2583A>C) c.2972A>C (p.Tyr991Ser) c.*2924A>C (n.*2924A>C) c.2864A>C (p.Tyr955Ser) c.2918A>C (p.Tyr973Ser) c.1271A>C c.*2240A>C (n.*2240A>C) c.230+9540A>C c.2948A>C (p.Tyr983Ser) c.2843A>C (p.Tyr948Ser) c.2834A>C (p.Tyr945Ser) c.2795A>C (p.Tyr932Ser) c.2741A>C (p.Tyr914Ser) c.2645A>C (p.Tyr882Ser) c.2615A>C (p.Tyr872Ser) c.2540A>C (p.Tyr847Ser) c.2438A>C (p.Tyr813Ser) c.2069A>C (p.Tyr690Ser) | |
| 5 | g.112838512A>G | CA16027707 | APC | c.2583A>G (n.2583A>G) c.2972A>G (p.Tyr991Cys) c.*2924A>G (n.*2924A>G) c.2864A>G (p.Tyr955Cys) c.2918A>G (p.Tyr973Cys) c.1271A>G c.*2240A>G (n.*2240A>G) c.230+9540A>G c.2948A>G (p.Tyr983Cys) c.2843A>G (p.Tyr948Cys) c.2834A>G (p.Tyr945Cys) c.2795A>G (p.Tyr932Cys) c.2741A>G (p.Tyr914Cys) c.2645A>G (p.Tyr882Cys) c.2615A>G (p.Tyr872Cys) c.2540A>G (p.Tyr847Cys) c.2438A>G (p.Tyr813Cys) c.2069A>G (p.Tyr690Cys) | dbSNP gnomAD v4 COSMIC |
| 5 | g.112838512A>T | CA16027708 | APC | c.2583A>T (n.2583A>T) c.2972A>T (p.Tyr991Phe) c.*2924A>T (n.*2924A>T) c.2864A>T (p.Tyr955Phe) c.2918A>T (p.Tyr973Phe) c.1271A>T c.*2240A>T (n.*2240A>T) c.230+9540A>T c.2948A>T (p.Tyr983Phe) c.2843A>T (p.Tyr948Phe) c.2834A>T (p.Tyr945Phe) c.2795A>T (p.Tyr932Phe) c.2741A>T (p.Tyr914Phe) c.2645A>T (p.Tyr882Phe) c.2615A>T (p.Tyr872Phe) c.2540A>T (p.Tyr847Phe) c.2438A>T (p.Tyr813Phe) c.2069A>T (p.Tyr690Phe) | dbSNP |
| 5 | g.112838513T>A | CA16027709 | APC | c.2584T>A (n.2584T>A) c.2973T>A (p.Tyr991Ter) c.*2925T>A (n.*2925T>A) c.2865T>A (p.Tyr955Ter) c.2919T>A (p.Tyr973Ter) c.1272T>A c.*2241T>A (n.*2241T>A) c.230+9541T>A c.2949T>A (p.Tyr983Ter) c.2844T>A (p.Tyr948Ter) c.2835T>A (p.Tyr945Ter) c.2796T>A (p.Tyr932Ter) c.2742T>A (p.Tyr914Ter) c.2646T>A (p.Tyr882Ter) c.2616T>A (p.Tyr872Ter) c.2541T>A (p.Tyr847Ter) c.2439T>A (p.Tyr813Ter) c.2070T>A (p.Tyr690Ter) | |
| 5 | g.112838513T>C | CA033944 | APC | c.2584T>C (n.2584T>C) c.2973T>C (p.Tyr991=) c.*2925T>C (n.*2925T>C) c.2865T>C (p.Tyr955=) c.2919T>C (p.Tyr973=) c.1272T>C c.*2241T>C (n.*2241T>C) c.230+9541T>C c.2949T>C (p.Tyr983=) c.2844T>C (p.Tyr948=) c.2835T>C (p.Tyr945=) c.2796T>C (p.Tyr932=) c.2742T>C (p.Tyr914=) c.2646T>C (p.Tyr882=) c.2616T>C (p.Tyr872=) c.2541T>C (p.Tyr847=) c.2439T>C (p.Tyr813=) c.2070T>C (p.Tyr690=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.112838513T>G | CA16027710 | APC | c.2584T>G (n.2584T>G) c.2973T>G (p.Tyr991Ter) c.*2925T>G (n.*2925T>G) c.2865T>G (p.Tyr955Ter) c.2919T>G (p.Tyr973Ter) c.1272T>G c.*2241T>G (n.*2241T>G) c.230+9541T>G c.2949T>G (p.Tyr983Ter) c.2844T>G (p.Tyr948Ter) c.2835T>G (p.Tyr945Ter) c.2796T>G (p.Tyr932Ter) c.2742T>G (p.Tyr914Ter) c.2646T>G (p.Tyr882Ter) c.2616T>G (p.Tyr872Ter) c.2541T>G (p.Tyr847Ter) c.2439T>G (p.Tyr813Ter) c.2070T>G (p.Tyr690Ter) | |
| 5 | g.112838513T= | CA1573484875 | APC | c.2584T= (n.2584T=) c.2973T= (p.Tyr991=) c.*2925T= (n.*2925T=) c.2865T= (p.Tyr955=) c.2919T= (p.Tyr973=) c.1272T= c.*2241T= (n.*2241T=) c.230+9541T= c.2949T= (p.Tyr983=) c.2844T= (p.Tyr948=) c.2835T= (p.Tyr945=) c.2796T= (p.Tyr932=) c.2742T= (p.Tyr914=) c.2646T= (p.Tyr882=) c.2616T= (p.Tyr872=) c.2541T= (p.Tyr847=) c.2439T= (p.Tyr813=) c.2070T= (p.Tyr690=) | |
| 5 | g.112838514G>A | CA16027711 | APC | c.2585G>A (n.2585G>A) c.2974G>A (p.Gly992Ser) c.*2926G>A (n.*2926G>A) c.2866G>A (p.Gly956Ser) c.2920G>A (p.Gly974Ser) c.1273G>A c.*2242G>A (n.*2242G>A) c.230+9542G>A c.2950G>A (p.Gly984Ser) c.2845G>A (p.Gly949Ser) c.2836G>A (p.Gly946Ser) c.2797G>A (p.Gly933Ser) c.2743G>A (p.Gly915Ser) c.2647G>A (p.Gly883Ser) c.2617G>A (p.Gly873Ser) c.2542G>A (p.Gly848Ser) c.2440G>A (p.Gly814Ser) c.2071G>A (p.Gly691Ser) | |
| 5 | g.112838514G>C | CA16027712 | APC | c.2585G>C (n.2585G>C) c.2974G>C (p.Gly992Arg) c.*2926G>C (n.*2926G>C) c.2866G>C (p.Gly956Arg) c.2920G>C (p.Gly974Arg) c.1273G>C c.*2242G>C (n.*2242G>C) c.230+9542G>C c.2950G>C (p.Gly984Arg) c.2845G>C (p.Gly949Arg) c.2836G>C (p.Gly946Arg) c.2797G>C (p.Gly933Arg) c.2743G>C (p.Gly915Arg) c.2647G>C (p.Gly883Arg) c.2617G>C (p.Gly873Arg) c.2542G>C (p.Gly848Arg) c.2440G>C (p.Gly814Arg) c.2071G>C (p.Gly691Arg) | dbSNP |
| 5 | g.112838514G= | CA1573484879 | APC | c.2585G= (n.2585G=) c.2974G= (p.Gly992=) c.*2926G= (n.*2926G=) c.2866G= (p.Gly956=) c.2920G= (p.Gly974=) c.1273G= c.*2242G= (n.*2242G=) c.230+9542G= c.2950G= (p.Gly984=) c.2845G= (p.Gly949=) c.2836G= (p.Gly946=) c.2797G= (p.Gly933=) c.2743G= (p.Gly915=) c.2647G= (p.Gly883=) c.2617G= (p.Gly873=) c.2542G= (p.Gly848=) c.2440G= (p.Gly814=) c.2071G= (p.Gly691=) |