| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.112838396_112838409del | CA2695204868 | APC | c.2467_2480del (n.2467_2480del) c.2856_2869del (p.Tyr953ValfsTer6) c.*2808_*2821del (n.*2808_*2821del) c.2748_2761del (p.Tyr917ValfsTer6) c.2802_2815del (p.Tyr935ValfsTer6) c.1155_1168del c.*2124_*2137del (n.*2124_*2137del) c.230+9424_230+9437del c.2832_2845del (p.Tyr945ValfsTer6) c.2727_2740del (p.Tyr910ValfsTer6) c.2718_2731del (p.Tyr907ValfsTer6) c.2679_2692del (p.Tyr894ValfsTer6) c.2625_2638del (p.Tyr876ValfsTer6) c.2529_2542del (p.Tyr844ValfsTer6) c.2499_2512del (p.Tyr834ValfsTer6) c.2424_2437del (p.Tyr809ValfsTer6) c.2322_2335del (p.Tyr775ValfsTer6) c.1953_1966del (p.Tyr652ValfsTer6) | |
| 5 | g.112838399_112838409del | CA2695204869 | APC | c.2470_2480del (n.2470_2480del) c.2859_2869del (p.Tyr953Ter) c.*2811_*2821del (n.*2811_*2821del) c.2751_2761del (p.Tyr917Ter) c.2805_2815del (p.Tyr935Ter) c.1158_1168del c.*2127_*2137del (n.*2127_*2137del) c.230+9427_230+9437del c.2835_2845del (p.Tyr945Ter) c.2730_2740del (p.Tyr910Ter) c.2721_2731del (p.Tyr907Ter) c.2682_2692del (p.Tyr894Ter) c.2628_2638del (p.Tyr876Ter) c.2532_2542del (p.Tyr844Ter) c.2502_2512del (p.Tyr834Ter) c.2427_2437del (p.Tyr809Ter) c.2325_2335del (p.Tyr775Ter) c.1956_1966del (p.Tyr652Ter) | |
| 5 | g.112838400_112838407dup | CA279797 | APC | c.2471_2478dup (n.2471_2478dup) c.2860_2867dup (p.Lys957IlefsTer19) c.*2812_*2819dup (n.*2812_*2819dup) c.2752_2759dup (p.Lys921IlefsTer19) c.2806_2813dup (p.Lys939IlefsTer19) c.1159_1166dup c.*2128_*2135dup (n.*2128_*2135dup) c.230+9428_230+9435dup c.2836_2843dup (p.Lys949IlefsTer19) c.2731_2738dup (p.Lys914IlefsTer19) c.2722_2729dup (p.Lys911IlefsTer19) c.2683_2690dup (p.Lys898IlefsTer19) c.2629_2636dup (p.Lys880IlefsTer19) c.2533_2540dup (p.Lys848IlefsTer19) c.2503_2510dup (p.Lys838IlefsTer19) c.2428_2435dup (p.Lys813IlefsTer19) c.2326_2333dup (p.Lys779IlefsTer19) c.1957_1964dup (p.Lys656IlefsTer19) | ClinVar dbSNP |
| 5 | g.112838402_112838409del | CA658760835 | APC | c.2473_2480del (n.2473_2480del) c.2862_2869del (p.Asn954LysfsTer7) c.*2814_*2821del (n.*2814_*2821del) c.2754_2761del (p.Asn918LysfsTer7) c.2808_2815del (p.Asn936LysfsTer7) c.1161_1168del c.*2130_*2137del (n.*2130_*2137del) c.230+9430_230+9437del c.2838_2845del (p.Asn946LysfsTer7) c.2733_2740del (p.Asn911LysfsTer7) c.2724_2731del (p.Asn908LysfsTer7) c.2685_2692del (p.Asn895LysfsTer7) c.2631_2638del (p.Asn877LysfsTer7) c.2535_2542del (p.Asn845LysfsTer7) c.2505_2512del (p.Asn835LysfsTer7) c.2430_2437del (p.Asn810LysfsTer7) c.2328_2335del (p.Asn776LysfsTer7) c.1959_1966del (p.Asn653LysfsTer7) | |
| 5 | g.112838404del | CA2695204870 | APC | c.2475del (n.2475del) c.2864del (p.Phe955SerfsTer18) c.*2816del (n.*2816del) c.2756del (p.Phe919SerfsTer18) c.2810del (p.Phe937SerfsTer18) c.1163del c.*2132del (n.*2132del) c.230+9432del c.2840del (p.Phe947SerfsTer18) c.2735del (p.Phe912SerfsTer18) c.2726del (p.Phe909SerfsTer18) c.2687del (p.Phe896SerfsTer18) c.2633del (p.Phe878SerfsTer18) c.2537del (p.Phe846SerfsTer18) c.2507del (p.Phe836SerfsTer18) c.2432del (p.Phe811SerfsTer18) c.2330del (p.Phe777SerfsTer18) c.1961del (p.Phe654SerfsTer18) | |
| 5 | g.112838404T>A | CA16027458 | APC | c.2475T>A (n.2475T>A) c.2864T>A (p.Phe955Tyr) c.*2816T>A (n.*2816T>A) c.2756T>A (p.Phe919Tyr) c.2810T>A (p.Phe937Tyr) c.1163T>A c.*2132T>A (n.*2132T>A) c.230+9432T>A c.2840T>A (p.Phe947Tyr) c.2735T>A (p.Phe912Tyr) c.2726T>A (p.Phe909Tyr) c.2687T>A (p.Phe896Tyr) c.2633T>A (p.Phe878Tyr) c.2537T>A (p.Phe846Tyr) c.2507T>A (p.Phe836Tyr) c.2432T>A (p.Phe811Tyr) c.2330T>A (p.Phe777Tyr) c.1961T>A (p.Phe654Tyr) | dbSNP |
| 5 | g.112838404T>C | CA16027459 | APC | c.2475T>C (n.2475T>C) c.2864T>C (p.Phe955Ser) c.*2816T>C (n.*2816T>C) c.2756T>C (p.Phe919Ser) c.2810T>C (p.Phe937Ser) c.1163T>C c.*2132T>C (n.*2132T>C) c.230+9432T>C c.2840T>C (p.Phe947Ser) c.2735T>C (p.Phe912Ser) c.2726T>C (p.Phe909Ser) c.2687T>C (p.Phe896Ser) c.2633T>C (p.Phe878Ser) c.2537T>C (p.Phe846Ser) c.2507T>C (p.Phe836Ser) c.2432T>C (p.Phe811Ser) c.2330T>C (p.Phe777Ser) c.1961T>C (p.Phe654Ser) | dbSNP COSMIC |
| 5 | g.112838404T>G | CA16027460 | APC | c.2475T>G (n.2475T>G) c.2864T>G (p.Phe955Cys) c.*2816T>G (n.*2816T>G) c.2756T>G (p.Phe919Cys) c.2810T>G (p.Phe937Cys) c.1163T>G c.*2132T>G (n.*2132T>G) c.230+9432T>G c.2840T>G (p.Phe947Cys) c.2735T>G (p.Phe912Cys) c.2726T>G (p.Phe909Cys) c.2687T>G (p.Phe896Cys) c.2633T>G (p.Phe878Cys) c.2537T>G (p.Phe846Cys) c.2507T>G (p.Phe836Cys) c.2432T>G (p.Phe811Cys) c.2330T>G (p.Phe777Cys) c.1961T>G (p.Phe654Cys) | gnomAD v4 |
| 5 | g.112838405C>A | CA16027461 | APC | c.2476C>A (n.2476C>A) c.2865C>A (p.Phe955Leu) c.*2817C>A (n.*2817C>A) c.2757C>A (p.Phe919Leu) c.2811C>A (p.Phe937Leu) c.1164C>A c.*2133C>A (n.*2133C>A) c.230+9433C>A c.2841C>A (p.Phe947Leu) c.2736C>A (p.Phe912Leu) c.2727C>A (p.Phe909Leu) c.2688C>A (p.Phe896Leu) c.2634C>A (p.Phe878Leu) c.2538C>A (p.Phe846Leu) c.2508C>A (p.Phe836Leu) c.2433C>A (p.Phe811Leu) c.2331C>A (p.Phe777Leu) c.1962C>A (p.Phe654Leu) | dbSNP |
| 5 | g.112838405C= | CA1573484216 | APC | c.2476C= (n.2476C=) c.2865C= (p.Phe955=) c.*2817C= (n.*2817C=) c.2757C= (p.Phe919=) c.2811C= (p.Phe937=) c.1164C= c.*2133C= (n.*2133C=) c.230+9433C= c.2841C= (p.Phe947=) c.2736C= (p.Phe912=) c.2727C= (p.Phe909=) c.2688C= (p.Phe896=) c.2634C= (p.Phe878=) c.2538C= (p.Phe846=) c.2508C= (p.Phe836=) c.2433C= (p.Phe811=) c.2331C= (p.Phe777=) c.1962C= (p.Phe654=) | |
| 5 | g.112838405C>G | CA16027462 | APC | c.2476C>G (n.2476C>G) c.2865C>G (p.Phe955Leu) c.*2817C>G (n.*2817C>G) c.2757C>G (p.Phe919Leu) c.2811C>G (p.Phe937Leu) c.1164C>G c.*2133C>G (n.*2133C>G) c.230+9433C>G c.2841C>G (p.Phe947Leu) c.2736C>G (p.Phe912Leu) c.2727C>G (p.Phe909Leu) c.2688C>G (p.Phe896Leu) c.2634C>G (p.Phe878Leu) c.2538C>G (p.Phe846Leu) c.2508C>G (p.Phe836Leu) c.2433C>G (p.Phe811Leu) c.2331C>G (p.Phe777Leu) c.1962C>G (p.Phe654Leu) | dbSNP |
| 5 | g.112838405C>T | CA033533 | APC | c.2476C>T (n.2476C>T) c.2865C>T (p.Phe955=) c.*2817C>T (n.*2817C>T) c.2757C>T (p.Phe919=) c.2811C>T (p.Phe937=) c.1164C>T c.*2133C>T (n.*2133C>T) c.230+9433C>T c.2841C>T (p.Phe947=) c.2736C>T (p.Phe912=) c.2727C>T (p.Phe909=) c.2688C>T (p.Phe896=) c.2634C>T (p.Phe878=) c.2538C>T (p.Phe846=) c.2508C>T (p.Phe836=) c.2433C>T (p.Phe811=) c.2331C>T (p.Phe777=) c.1962C>T (p.Phe654=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.112838406A= | CA1573484220 | APC | c.2477A= (n.2477A=) c.2866A= (p.Thr956=) c.*2818A= (n.*2818A=) c.2758A= (p.Thr920=) c.2812A= (p.Thr938=) c.1165A= c.*2134A= (n.*2134A=) c.230+9434A= c.2842A= (p.Thr948=) c.2737A= (p.Thr913=) c.2728A= (p.Thr910=) c.2689A= (p.Thr897=) c.2635A= (p.Thr879=) c.2539A= (p.Thr847=) c.2509A= (p.Thr837=) c.2434A= (p.Thr812=) c.2332A= (p.Thr778=) c.1963A= (p.Thr655=) | |
| 5 | g.112838406A>C | CA16027463 | APC | c.2477A>C (n.2477A>C) c.2866A>C (p.Thr956Pro) c.*2818A>C (n.*2818A>C) c.2758A>C (p.Thr920Pro) c.2812A>C (p.Thr938Pro) c.1165A>C c.*2134A>C (n.*2134A>C) c.230+9434A>C c.2842A>C (p.Thr948Pro) c.2737A>C (p.Thr913Pro) c.2728A>C (p.Thr910Pro) c.2689A>C (p.Thr897Pro) c.2635A>C (p.Thr879Pro) c.2539A>C (p.Thr847Pro) c.2509A>C (p.Thr837Pro) c.2434A>C (p.Thr812Pro) c.2332A>C (p.Thr778Pro) c.1963A>C (p.Thr655Pro) | dbSNP |
| 5 | g.112838406A>G | CA16027464 | APC | c.2477A>G (n.2477A>G) c.2866A>G (p.Thr956Ala) c.*2818A>G (n.*2818A>G) c.2758A>G (p.Thr920Ala) c.2812A>G (p.Thr938Ala) c.1165A>G c.*2134A>G (n.*2134A>G) c.230+9434A>G c.2842A>G (p.Thr948Ala) c.2737A>G (p.Thr913Ala) c.2728A>G (p.Thr910Ala) c.2689A>G (p.Thr897Ala) c.2635A>G (p.Thr879Ala) c.2539A>G (p.Thr847Ala) c.2509A>G (p.Thr837Ala) c.2434A>G (p.Thr812Ala) c.2332A>G (p.Thr778Ala) c.1963A>G (p.Thr655Ala) | ClinVar dbSNP |
| 5 | g.112838406A>T | CA16027465 | APC | c.2477A>T (n.2477A>T) c.2866A>T (p.Thr956Ser) c.*2818A>T (n.*2818A>T) c.2758A>T (p.Thr920Ser) c.2812A>T (p.Thr938Ser) c.1165A>T c.*2134A>T (n.*2134A>T) c.230+9434A>T c.2842A>T (p.Thr948Ser) c.2737A>T (p.Thr913Ser) c.2728A>T (p.Thr910Ser) c.2689A>T (p.Thr897Ser) c.2635A>T (p.Thr879Ser) c.2539A>T (p.Thr847Ser) c.2509A>T (p.Thr837Ser) c.2434A>T (p.Thr812Ser) c.2332A>T (p.Thr778Ser) c.1963A>T (p.Thr655Ser) | dbSNP |
| 5 | g.112838407_112838410del | CA2695204871 | APC | c.2478_2481del (n.2478_2481del) c.2867_2870del (p.Thr956SerfsTer16) c.*2819_*2822del (n.*2819_*2822del) c.2759_2762del (p.Thr920SerfsTer16) c.2813_2816del (p.Thr938SerfsTer16) c.1166_1169del c.*2135_*2138del (n.*2135_*2138del) c.230+9435_230+9438del c.2843_2846del (p.Thr948SerfsTer16) c.2738_2741del (p.Thr913SerfsTer16) c.2729_2732del (p.Thr910SerfsTer16) c.2690_2693del (p.Thr897SerfsTer16) c.2636_2639del (p.Thr879SerfsTer16) c.2540_2543del (p.Thr847SerfsTer16) c.2510_2513del (p.Thr837SerfsTer16) c.2435_2438del (p.Thr812SerfsTer16) c.2333_2336del (p.Thr778SerfsTer16) c.1964_1967del (p.Thr655SerfsTer16) | |
| 5 | g.112838407C>A | CA16027466 | APC | c.2478C>A (n.2478C>A) c.2867C>A (p.Thr956Asn) c.*2819C>A (n.*2819C>A) c.2759C>A (p.Thr920Asn) c.2813C>A (p.Thr938Asn) c.1166C>A c.*2135C>A (n.*2135C>A) c.230+9435C>A c.2843C>A (p.Thr948Asn) c.2738C>A (p.Thr913Asn) c.2729C>A (p.Thr910Asn) c.2690C>A (p.Thr897Asn) c.2636C>A (p.Thr879Asn) c.2540C>A (p.Thr847Asn) c.2510C>A (p.Thr837Asn) c.2435C>A (p.Thr812Asn) c.2333C>A (p.Thr778Asn) c.1964C>A (p.Thr655Asn) | dbSNP |
| 5 | g.112838407C= | CA1573484228 | APC | c.2478C= (n.2478C=) c.2867C= (p.Thr956=) c.*2819C= (n.*2819C=) c.2759C= (p.Thr920=) c.2813C= (p.Thr938=) c.1166C= c.*2135C= (n.*2135C=) c.230+9435C= c.2843C= (p.Thr948=) c.2738C= (p.Thr913=) c.2729C= (p.Thr910=) c.2690C= (p.Thr897=) c.2636C= (p.Thr879=) c.2540C= (p.Thr847=) c.2510C= (p.Thr837=) c.2435C= (p.Thr812=) c.2333C= (p.Thr778=) c.1964C= (p.Thr655=) | |
| 5 | g.112838407C>G | CA16027467 | APC | c.2478C>G (n.2478C>G) c.2867C>G (p.Thr956Ser) c.*2819C>G (n.*2819C>G) c.2759C>G (p.Thr920Ser) c.2813C>G (p.Thr938Ser) c.1166C>G c.*2135C>G (n.*2135C>G) c.230+9435C>G c.2843C>G (p.Thr948Ser) c.2738C>G (p.Thr913Ser) c.2729C>G (p.Thr910Ser) c.2690C>G (p.Thr897Ser) c.2636C>G (p.Thr879Ser) c.2540C>G (p.Thr847Ser) c.2510C>G (p.Thr837Ser) c.2435C>G (p.Thr812Ser) c.2333C>G (p.Thr778Ser) c.1964C>G (p.Thr655Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.112838407C>T | CA16027468 | APC | c.2478C>T (n.2478C>T) c.2867C>T (p.Thr956Ile) c.*2819C>T (n.*2819C>T) c.2759C>T (p.Thr920Ile) c.2813C>T (p.Thr938Ile) c.1166C>T c.*2135C>T (n.*2135C>T) c.230+9435C>T c.2843C>T (p.Thr948Ile) c.2738C>T (p.Thr913Ile) c.2729C>T (p.Thr910Ile) c.2690C>T (p.Thr897Ile) c.2636C>T (p.Thr879Ile) c.2540C>T (p.Thr847Ile) c.2510C>T (p.Thr837Ile) c.2435C>T (p.Thr812Ile) c.2333C>T (p.Thr778Ile) c.1964C>T (p.Thr655Ile) | dbSNP |
| 5 | g.112838408T>A | CA445962912 | APC | c.2479T>A (n.2479T>A) c.2868T>A (p.Thr956=) c.*2820T>A (n.*2820T>A) c.2760T>A (p.Thr920=) c.2814T>A (p.Thr938=) c.1167T>A c.*2136T>A (n.*2136T>A) c.230+9436T>A c.2844T>A (p.Thr948=) c.2739T>A (p.Thr913=) c.2730T>A (p.Thr910=) c.2691T>A (p.Thr897=) c.2637T>A (p.Thr879=) c.2541T>A (p.Thr847=) c.2511T>A (p.Thr837=) c.2436T>A (p.Thr812=) c.2334T>A (p.Thr778=) c.1965T>A (p.Thr655=) | |
| 5 | g.112838408T>C | CA445962913 | APC | c.2479T>C (n.2479T>C) c.2868T>C (p.Thr956=) c.*2820T>C (n.*2820T>C) c.2760T>C (p.Thr920=) c.2814T>C (p.Thr938=) c.1167T>C c.*2136T>C (n.*2136T>C) c.230+9436T>C c.2844T>C (p.Thr948=) c.2739T>C (p.Thr913=) c.2730T>C (p.Thr910=) c.2691T>C (p.Thr897=) c.2637T>C (p.Thr879=) c.2541T>C (p.Thr847=) c.2511T>C (p.Thr837=) c.2436T>C (p.Thr812=) c.2334T>C (p.Thr778=) c.1965T>C (p.Thr655=) | ClinVar dbSNP gnomAD v4 |
| 5 | g.112838408T>G | CA445962914 | APC | c.2479T>G (n.2479T>G) c.2868T>G (p.Thr956=) c.*2820T>G (n.*2820T>G) c.2760T>G (p.Thr920=) c.2814T>G (p.Thr938=) c.1167T>G c.*2136T>G (n.*2136T>G) c.230+9436T>G c.2844T>G (p.Thr948=) c.2739T>G (p.Thr913=) c.2730T>G (p.Thr910=) c.2691T>G (p.Thr897=) c.2637T>G (p.Thr879=) c.2541T>G (p.Thr847=) c.2511T>G (p.Thr837=) c.2436T>G (p.Thr812=) c.2334T>G (p.Thr778=) c.1965T>G (p.Thr655=) | ClinVar dbSNP |
| 5 | g.112838408T= | CA1573484238 | APC | c.2479T= (n.2479T=) c.2868T= (p.Thr956=) c.*2820T= (n.*2820T=) c.2760T= (p.Thr920=) c.2814T= (p.Thr938=) c.1167T= c.*2136T= (n.*2136T=) c.230+9436T= c.2844T= (p.Thr948=) c.2739T= (p.Thr913=) c.2730T= (p.Thr910=) c.2691T= (p.Thr897=) c.2637T= (p.Thr879=) c.2541T= (p.Thr847=) c.2511T= (p.Thr837=) c.2436T= (p.Thr812=) c.2334T= (p.Thr778=) c.1965T= (p.Thr655=) | |
| 5 | g.112838408_112838410delinsTAA | CA1573484241 | APC | c.2479_2481delinsTAA (n.2479_2481delinsTAA) c.2868_2870delinsTAA (p.Thr956=) c.*2820_*2822delinsTAA (n.*2820_*2822delinsTAA) c.2760_2762delinsTAA (p.Thr920=) c.2814_2816delinsTAA (p.Thr938=) c.1167_1169delinsTAA c.*2136_*2138delinsTAA (n.*2136_*2138delinsTAA) c.230+9436_230+9438delinsTAA c.2844_2846delinsTAA (p.Thr948=) c.2739_2741delinsTAA (p.Thr913=) c.2730_2732delinsTAA (p.Thr910=) c.2691_2693delinsTAA (p.Thr897=) c.2637_2639delinsTAA (p.Thr879=) c.2541_2543delinsTAA (p.Thr847=) c.2511_2513delinsTAA (p.Thr837=) c.2436_2438delinsTAA (p.Thr812=) c.2334_2336delinsTAA (p.Thr778=) c.1965_1967delinsTAA (p.Thr655=) | |
| 5 | g.112838409A= | CA1573484248 | APC | c.2480A= (n.2480A=) c.2869A= (p.Lys957=) c.*2821A= (n.*2821A=) c.2761A= (p.Lys921=) c.2815A= (p.Lys939=) c.1168A= c.*2137A= (n.*2137A=) c.230+9437A= c.2845A= (p.Lys949=) c.2740A= (p.Lys914=) c.2731A= (p.Lys911=) c.2692A= (p.Lys898=) c.2638A= (p.Lys880=) c.2542A= (p.Lys848=) c.2512A= (p.Lys838=) c.2437A= (p.Lys813=) c.2335A= (p.Lys779=) c.1966A= (p.Lys656=) | |
| 5 | g.112838409A>C | CA16027469 | APC | c.2480A>C (n.2480A>C) c.2869A>C (p.Lys957Gln) c.*2821A>C (n.*2821A>C) c.2761A>C (p.Lys921Gln) c.2815A>C (p.Lys939Gln) c.1168A>C c.*2137A>C (n.*2137A>C) c.230+9437A>C c.2845A>C (p.Lys949Gln) c.2740A>C (p.Lys914Gln) c.2731A>C (p.Lys911Gln) c.2692A>C (p.Lys898Gln) c.2638A>C (p.Lys880Gln) c.2542A>C (p.Lys848Gln) c.2512A>C (p.Lys838Gln) c.2437A>C (p.Lys813Gln) c.2335A>C (p.Lys779Gln) c.1966A>C (p.Lys656Gln) | |
| 5 | g.112838409A>G | CA16027470 | APC | c.2480A>G (n.2480A>G) c.2869A>G (p.Lys957Glu) c.*2821A>G (n.*2821A>G) c.2761A>G (p.Lys921Glu) c.2815A>G (p.Lys939Glu) c.1168A>G c.*2137A>G (n.*2137A>G) c.230+9437A>G c.2845A>G (p.Lys949Glu) c.2740A>G (p.Lys914Glu) c.2731A>G (p.Lys911Glu) c.2692A>G (p.Lys898Glu) c.2638A>G (p.Lys880Glu) c.2542A>G (p.Lys848Glu) c.2512A>G (p.Lys838Glu) c.2437A>G (p.Lys813Glu) c.2335A>G (p.Lys779Glu) c.1966A>G (p.Lys656Glu) | ClinVar dbSNP |
| 5 | g.112838409A>T | CA16027471 | APC | c.2480A>T (n.2480A>T) c.2869A>T (p.Lys957Ter) c.*2821A>T (n.*2821A>T) c.2761A>T (p.Lys921Ter) c.2815A>T (p.Lys939Ter) c.1168A>T c.*2137A>T (n.*2137A>T) c.230+9437A>T c.2845A>T (p.Lys949Ter) c.2740A>T (p.Lys914Ter) c.2731A>T (p.Lys911Ter) c.2692A>T (p.Lys898Ter) c.2638A>T (p.Lys880Ter) c.2542A>T (p.Lys848Ter) c.2512A>T (p.Lys838Ter) c.2437A>T (p.Lys813Ter) c.2335A>T (p.Lys779Ter) c.1966A>T (p.Lys656Ter) | ClinVar dbSNP COSMIC |
| 5 | g.112838409_112838410del | CA658760837 | APC | c.2480_2481del (n.2480_2481del) c.2869_2870del (p.Lys957ValfsTer6) c.*2821_*2822del (n.*2821_*2822del) c.2761_2762del (p.Lys921ValfsTer6) c.2815_2816del (p.Lys939ValfsTer6) c.1168_1169del c.*2137_*2138del (n.*2137_*2138del) c.230+9437_230+9438del c.2845_2846del (p.Lys949ValfsTer6) c.2740_2741del (p.Lys914ValfsTer6) c.2731_2732del (p.Lys911ValfsTer6) c.2692_2693del (p.Lys898ValfsTer6) c.2638_2639del (p.Lys880ValfsTer6) c.2542_2543del (p.Lys848ValfsTer6) c.2512_2513del (p.Lys838ValfsTer6) c.2437_2438del (p.Lys813ValfsTer6) c.2335_2336del (p.Lys779ValfsTer6) c.1966_1967del (p.Lys656ValfsTer6) | ClinVar dbSNP |
| 5 | g.112838410del | CA658760836 | APC | c.2481del (n.2481del) c.2870del (p.Lys957SerfsTer16) c.*2822del (n.*2822del) c.2762del (p.Lys921SerfsTer16) c.2816del (p.Lys939SerfsTer16) c.1169del c.*2138del (n.*2138del) c.230+9438del c.2846del (p.Lys949SerfsTer16) c.2741del (p.Lys914SerfsTer16) c.2732del (p.Lys911SerfsTer16) c.2693del (p.Lys898SerfsTer16) c.2639del (p.Lys880SerfsTer16) c.2543del (p.Lys848SerfsTer16) c.2513del (p.Lys838SerfsTer16) c.2438del (p.Lys813SerfsTer16) c.2336del (p.Lys779SerfsTer16) c.1967del (p.Lys656SerfsTer16) | |
| 5 | g.112838410A= | CA1573484255 | APC | c.2481A= (n.2481A=) c.2870A= (p.Lys957=) c.*2822A= (n.*2822A=) c.2762A= (p.Lys921=) c.2816A= (p.Lys939=) c.1169A= c.*2138A= (n.*2138A=) c.230+9438A= c.2846A= (p.Lys949=) c.2741A= (p.Lys914=) c.2732A= (p.Lys911=) c.2693A= (p.Lys898=) c.2639A= (p.Lys880=) c.2543A= (p.Lys848=) c.2513A= (p.Lys838=) c.2438A= (p.Lys813=) c.2336A= (p.Lys779=) c.1967A= (p.Lys656=) | |
| 5 | g.112838410A>C | CA033556 | APC | c.2481A>C (n.2481A>C) c.2870A>C (p.Lys957Thr) c.*2822A>C (n.*2822A>C) c.2762A>C (p.Lys921Thr) c.2816A>C (p.Lys939Thr) c.1169A>C c.*2138A>C (n.*2138A>C) c.230+9438A>C c.2846A>C (p.Lys949Thr) c.2741A>C (p.Lys914Thr) c.2732A>C (p.Lys911Thr) c.2693A>C (p.Lys898Thr) c.2639A>C (p.Lys880Thr) c.2543A>C (p.Lys848Thr) c.2513A>C (p.Lys838Thr) c.2438A>C (p.Lys813Thr) c.2336A>C (p.Lys779Thr) c.1967A>C (p.Lys656Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.112838410A>G | CA16027472 | APC | c.2481A>G (n.2481A>G) c.2870A>G (p.Lys957Arg) c.*2822A>G (n.*2822A>G) c.2762A>G (p.Lys921Arg) c.2816A>G (p.Lys939Arg) c.1169A>G c.*2138A>G (n.*2138A>G) c.230+9438A>G c.2846A>G (p.Lys949Arg) c.2741A>G (p.Lys914Arg) c.2732A>G (p.Lys911Arg) c.2693A>G (p.Lys898Arg) c.2639A>G (p.Lys880Arg) c.2543A>G (p.Lys848Arg) c.2513A>G (p.Lys838Arg) c.2438A>G (p.Lys813Arg) c.2336A>G (p.Lys779Arg) c.1967A>G (p.Lys656Arg) | ClinVar dbSNP |
| 5 | g.112838410A>T | CA16027473 | APC | c.2481A>T (n.2481A>T) c.2870A>T (p.Lys957Met) c.*2822A>T (n.*2822A>T) c.2762A>T (p.Lys921Met) c.2816A>T (p.Lys939Met) c.1169A>T c.*2138A>T (n.*2138A>T) c.230+9438A>T c.2846A>T (p.Lys949Met) c.2741A>T (p.Lys914Met) c.2732A>T (p.Lys911Met) c.2693A>T (p.Lys898Met) c.2639A>T (p.Lys880Met) c.2543A>T (p.Lys848Met) c.2513A>T (p.Lys838Met) c.2438A>T (p.Lys813Met) c.2336A>T (p.Lys779Met) c.1967A>T (p.Lys656Met) | dbSNP |
| 5 | g.112838411G>A | CA445962916 | APC | c.2482G>A (n.2482G>A) c.2871G>A (p.Lys957=) c.*2823G>A (n.*2823G>A) c.2763G>A (p.Lys921=) c.2817G>A (p.Lys939=) c.1170G>A c.*2139G>A (n.*2139G>A) c.230+9439G>A c.2847G>A (p.Lys949=) c.2742G>A (p.Lys914=) c.2733G>A (p.Lys911=) c.2694G>A (p.Lys898=) c.2640G>A (p.Lys880=) c.2544G>A (p.Lys848=) c.2514G>A (p.Lys838=) c.2439G>A (p.Lys813=) c.2337G>A (p.Lys779=) c.1968G>A (p.Lys656=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.112838411G>C | CA033574 | APC | c.2482G>C (n.2482G>C) c.2871G>C (p.Lys957Asn) c.*2823G>C (n.*2823G>C) c.2763G>C (p.Lys921Asn) c.2817G>C (p.Lys939Asn) c.1170G>C c.*2139G>C (n.*2139G>C) c.230+9439G>C c.2847G>C (p.Lys949Asn) c.2742G>C (p.Lys914Asn) c.2733G>C (p.Lys911Asn) c.2694G>C (p.Lys898Asn) c.2640G>C (p.Lys880Asn) c.2544G>C (p.Lys848Asn) c.2514G>C (p.Lys838Asn) c.2439G>C (p.Lys813Asn) c.2337G>C (p.Lys779Asn) c.1968G>C (p.Lys656Asn) | dbSNP ExAC gnomAD v2 |
| 5 | g.112838411G= | CA1573484257 | APC | c.2482G= (n.2482G=) c.2871G= (p.Lys957=) c.*2823G= (n.*2823G=) c.2763G= (p.Lys921=) c.2817G= (p.Lys939=) c.1170G= c.*2139G= (n.*2139G=) c.230+9439G= c.2847G= (p.Lys949=) c.2742G= (p.Lys914=) c.2733G= (p.Lys911=) c.2694G= (p.Lys898=) c.2640G= (p.Lys880=) c.2544G= (p.Lys848=) c.2514G= (p.Lys838=) c.2439G= (p.Lys813=) c.2337G= (p.Lys779=) c.1968G= (p.Lys656=) | |
| 5 | g.112838411G>T | CA16027474 | APC | c.2482G>T (n.2482G>T) c.2871G>T (p.Lys957Asn) c.*2823G>T (n.*2823G>T) c.2763G>T (p.Lys921Asn) c.2817G>T (p.Lys939Asn) c.1170G>T c.*2139G>T (n.*2139G>T) c.230+9439G>T c.2847G>T (p.Lys949Asn) c.2742G>T (p.Lys914Asn) c.2733G>T (p.Lys911Asn) c.2694G>T (p.Lys898Asn) c.2640G>T (p.Lys880Asn) c.2544G>T (p.Lys848Asn) c.2514G>T (p.Lys838Asn) c.2439G>T (p.Lys813Asn) c.2337G>T (p.Lys779Asn) c.1968G>T (p.Lys656Asn) | dbSNP |
| 5 | g.112838412_112838415del | CA658760838 | APC | c.2483_2486del (n.2483_2486del) c.2872_2875del (p.Ser958LysfsTer14) c.*2824_*2827del (n.*2824_*2827del) c.2764_2767del (p.Ser922LysfsTer14) c.2818_2821del (p.Ser940LysfsTer14) c.1171_1174del c.*2140_*2143del (n.*2140_*2143del) c.230+9440_230+9443del c.2848_2851del (p.Ser950LysfsTer14) c.2743_2746del (p.Ser915LysfsTer14) c.2734_2737del (p.Ser912LysfsTer14) c.2695_2698del (p.Ser899LysfsTer14) c.2641_2644del (p.Ser881LysfsTer14) c.2545_2548del (p.Ser849LysfsTer14) c.2515_2518del (p.Ser839LysfsTer14) c.2440_2443del (p.Ser814LysfsTer14) c.2338_2341del (p.Ser780LysfsTer14) c.1969_1972del (p.Ser657LysfsTer14) | |
| 5 | g.112838412T>A | CA16027475 | APC | c.2483T>A (n.2483T>A) c.2872T>A (p.Ser958Thr) c.*2824T>A (n.*2824T>A) c.2764T>A (p.Ser922Thr) c.2818T>A (p.Ser940Thr) c.1171T>A c.*2140T>A (n.*2140T>A) c.230+9440T>A c.2848T>A (p.Ser950Thr) c.2743T>A (p.Ser915Thr) c.2734T>A (p.Ser912Thr) c.2695T>A (p.Ser899Thr) c.2641T>A (p.Ser881Thr) c.2545T>A (p.Ser849Thr) c.2515T>A (p.Ser839Thr) c.2440T>A (p.Ser814Thr) c.2338T>A (p.Ser780Thr) c.1969T>A (p.Ser657Thr) | dbSNP |
| 5 | g.112838412T>C | CA16027476 | APC | c.2483T>C (n.2483T>C) c.2872T>C (p.Ser958Pro) c.*2824T>C (n.*2824T>C) c.2764T>C (p.Ser922Pro) c.2818T>C (p.Ser940Pro) c.1171T>C c.*2140T>C (n.*2140T>C) c.230+9440T>C c.2848T>C (p.Ser950Pro) c.2743T>C (p.Ser915Pro) c.2734T>C (p.Ser912Pro) c.2695T>C (p.Ser899Pro) c.2641T>C (p.Ser881Pro) c.2545T>C (p.Ser849Pro) c.2515T>C (p.Ser839Pro) c.2440T>C (p.Ser814Pro) c.2338T>C (p.Ser780Pro) c.1969T>C (p.Ser657Pro) | |
| 5 | g.112838412T>G | CA16027477 | APC | c.2483T>G (n.2483T>G) c.2872T>G (p.Ser958Ala) c.*2824T>G (n.*2824T>G) c.2764T>G (p.Ser922Ala) c.2818T>G (p.Ser940Ala) c.1171T>G c.*2140T>G (n.*2140T>G) c.230+9440T>G c.2848T>G (p.Ser950Ala) c.2743T>G (p.Ser915Ala) c.2734T>G (p.Ser912Ala) c.2695T>G (p.Ser899Ala) c.2641T>G (p.Ser881Ala) c.2545T>G (p.Ser849Ala) c.2515T>G (p.Ser839Ala) c.2440T>G (p.Ser814Ala) c.2338T>G (p.Ser780Ala) c.1969T>G (p.Ser657Ala) | dbSNP |
| 5 | g.112838412_112838413delinsTC | CA1573484264 | APC | c.2483_2484delinsTC (n.2483_2484delinsTC) c.2872_2873delinsTC (p.Ser958=) c.*2824_*2825delinsTC (n.*2824_*2825delinsTC) c.2764_2765delinsTC (p.Ser922=) c.2818_2819delinsTC (p.Ser940=) c.1171_1172delinsTC c.*2140_*2141delinsTC (n.*2140_*2141delinsTC) c.230+9440_230+9441delinsTC c.2848_2849delinsTC (p.Ser950=) c.2743_2744delinsTC (p.Ser915=) c.2734_2735delinsTC (p.Ser912=) c.2695_2696delinsTC (p.Ser899=) c.2641_2642delinsTC (p.Ser881=) c.2545_2546delinsTC (p.Ser849=) c.2515_2516delinsTC (p.Ser839=) c.2440_2441delinsTC (p.Ser814=) c.2338_2339delinsTC (p.Ser780=) c.1969_1970delinsTC (p.Ser657=) | |
| 5 | g.112838413del | CA645372780 | APC | c.2484del (n.2484del) c.2873del (p.Ser958TrpfsTer15) c.*2825del (n.*2825del) c.2765del (p.Ser922TrpfsTer15) c.2819del (p.Ser940TrpfsTer15) c.1172del c.*2141del (n.*2141del) c.230+9441del c.2849del (p.Ser950TrpfsTer15) c.2744del (p.Ser915TrpfsTer15) c.2735del (p.Ser912TrpfsTer15) c.2696del (p.Ser899TrpfsTer15) c.2642del (p.Ser881TrpfsTer15) c.2546del (p.Ser849TrpfsTer15) c.2516del (p.Ser839TrpfsTer15) c.2441del (p.Ser814TrpfsTer15) c.2339del (p.Ser780TrpfsTer15) c.1970del (p.Ser657TrpfsTer15) | ClinVar dbSNP |
| 5 | g.112838413C>A | CA16027478 | APC | c.2484C>A (n.2484C>A) c.2873C>A (p.Ser958Ter) c.*2825C>A (n.*2825C>A) c.2765C>A (p.Ser922Ter) c.2819C>A (p.Ser940Ter) c.1172C>A c.*2141C>A (n.*2141C>A) c.230+9441C>A c.2849C>A (p.Ser950Ter) c.2744C>A (p.Ser915Ter) c.2735C>A (p.Ser912Ter) c.2696C>A (p.Ser899Ter) c.2642C>A (p.Ser881Ter) c.2546C>A (p.Ser849Ter) c.2516C>A (p.Ser839Ter) c.2441C>A (p.Ser814Ter) c.2339C>A (p.Ser780Ter) c.1970C>A (p.Ser657Ter) | dbSNP gnomAD v4 COSMIC |
| 5 | g.112838413C= | CA1573484270 | APC | c.2484C= (n.2484C=) c.2873C= (p.Ser958=) c.*2825C= (n.*2825C=) c.2765C= (p.Ser922=) c.2819C= (p.Ser940=) c.1172C= c.*2141C= (n.*2141C=) c.230+9441C= c.2849C= (p.Ser950=) c.2744C= (p.Ser915=) c.2735C= (p.Ser912=) c.2696C= (p.Ser899=) c.2642C= (p.Ser881=) c.2546C= (p.Ser849=) c.2516C= (p.Ser839=) c.2441C= (p.Ser814=) c.2339C= (p.Ser780=) c.1970C= (p.Ser657=) | |
| 5 | g.112838413C>G | CA16027479 | APC | c.2484C>G (n.2484C>G) c.2873C>G (p.Ser958Trp) c.*2825C>G (n.*2825C>G) c.2765C>G (p.Ser922Trp) c.2819C>G (p.Ser940Trp) c.1172C>G c.*2141C>G (n.*2141C>G) c.230+9441C>G c.2849C>G (p.Ser950Trp) c.2744C>G (p.Ser915Trp) c.2735C>G (p.Ser912Trp) c.2696C>G (p.Ser899Trp) c.2642C>G (p.Ser881Trp) c.2546C>G (p.Ser849Trp) c.2516C>G (p.Ser839Trp) c.2441C>G (p.Ser814Trp) c.2339C>G (p.Ser780Trp) c.1970C>G (p.Ser657Trp) | ClinVar dbSNP gnomAD v4 |
| 5 | g.112838413C>T | CA16027480 | APC | c.2484C>T (n.2484C>T) c.2873C>T (p.Ser958Leu) c.*2825C>T (n.*2825C>T) c.2765C>T (p.Ser922Leu) c.2819C>T (p.Ser940Leu) c.1172C>T c.*2141C>T (n.*2141C>T) c.230+9441C>T c.2849C>T (p.Ser950Leu) c.2744C>T (p.Ser915Leu) c.2735C>T (p.Ser912Leu) c.2696C>T (p.Ser899Leu) c.2642C>T (p.Ser881Leu) c.2546C>T (p.Ser849Leu) c.2516C>T (p.Ser839Leu) c.2441C>T (p.Ser814Leu) c.2339C>T (p.Ser780Leu) c.1970C>T (p.Ser657Leu) | ClinVar dbSNP gnomAD v4 |