| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.112838396_112838399del | CA645369362 | APC | c.2467_2470del (n.2467_2470del) c.2856_2859del (p.Tyr953IlefsTer19) c.*2808_*2811del (n.*2808_*2811del) c.2748_2751del (p.Tyr917IlefsTer19) c.2802_2805del (p.Tyr935IlefsTer19) c.1155_1158del c.*2124_*2127del (n.*2124_*2127del) c.230+9424_230+9427del c.2832_2835del (p.Tyr945IlefsTer19) c.2727_2730del (p.Tyr910IlefsTer19) c.2718_2721del (p.Tyr907IlefsTer19) c.2679_2682del (p.Tyr894IlefsTer19) c.2625_2628del (p.Tyr876IlefsTer19) c.2529_2532del (p.Tyr844IlefsTer19) c.2499_2502del (p.Tyr834IlefsTer19) c.2424_2427del (p.Tyr809IlefsTer19) c.2322_2325del (p.Tyr775IlefsTer19) c.1953_1956del (p.Tyr652IlefsTer19) | ClinVar dbSNP gnomAD v4 COSMIC |
| 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.112838398_112838399delinsAC | CA1573484138 | APC | c.2469_2470delinsAC (n.2469_2470delinsAC) c.2858_2859delinsAC (p.Tyr953=) c.*2810_*2811delinsAC (n.*2810_*2811delinsAC) c.2750_2751delinsAC (p.Tyr917=) c.2804_2805delinsAC (p.Tyr935=) c.1157_1158delinsAC c.*2126_*2127delinsAC (n.*2126_*2127delinsAC) c.230+9426_230+9427delinsAC c.2834_2835delinsAC (p.Tyr945=) c.2729_2730delinsAC (p.Tyr910=) c.2720_2721delinsAC (p.Tyr907=) c.2681_2682delinsAC (p.Tyr894=) c.2627_2628delinsAC (p.Tyr876=) c.2531_2532delinsAC (p.Tyr844=) c.2501_2502delinsAC (p.Tyr834=) c.2426_2427delinsAC (p.Tyr809=) c.2324_2325delinsAC (p.Tyr775=) c.1955_1956delinsAC (p.Tyr652=) | |
| 5 | g.112838399_112838400dup | CA658760832 | APC | c.2470_2471dup (n.2470_2471dup) c.2859_2860dup (p.Asn954ThrfsTer20) c.*2811_*2812dup (n.*2811_*2812dup) c.2751_2752dup (p.Asn918ThrfsTer20) c.2805_2806dup (p.Asn936ThrfsTer20) c.1158_1159dup c.*2127_*2128dup (n.*2127_*2128dup) c.230+9427_230+9428dup c.2835_2836dup (p.Asn946ThrfsTer20) c.2730_2731dup (p.Asn911ThrfsTer20) c.2721_2722dup (p.Asn908ThrfsTer20) c.2682_2683dup (p.Asn895ThrfsTer20) c.2628_2629dup (p.Asn877ThrfsTer20) c.2532_2533dup (p.Asn845ThrfsTer20) c.2502_2503dup (p.Asn835ThrfsTer20) c.2427_2428dup (p.Asn810ThrfsTer20) c.2325_2326dup (p.Asn776ThrfsTer20) c.1956_1957dup (p.Asn653ThrfsTer20) | |
| 5 | g.112838398_112838401del | CA658760833 | APC | c.2469_2472del (n.2469_2472del) c.2858_2861del (p.Tyr953PhefsTer19) c.*2810_*2813del (n.*2810_*2813del) c.2750_2753del (p.Tyr917PhefsTer19) c.2804_2807del (p.Tyr935PhefsTer19) c.1157_1160del c.*2126_*2129del (n.*2126_*2129del) c.230+9426_230+9429del c.2834_2837del (p.Tyr945PhefsTer19) c.2729_2732del (p.Tyr910PhefsTer19) c.2720_2723del (p.Tyr907PhefsTer19) c.2681_2684del (p.Tyr894PhefsTer19) c.2627_2630del (p.Tyr876PhefsTer19) c.2531_2534del (p.Tyr844PhefsTer19) c.2501_2504del (p.Tyr834PhefsTer19) c.2426_2429del (p.Tyr809PhefsTer19) c.2324_2327del (p.Tyr775PhefsTer19) c.1955_1958del (p.Tyr652PhefsTer19) | |
| 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.112838399del | CA007827 | APC | c.2470del (n.2470del) c.2859del (p.Tyr953Ter) c.*2811del (n.*2811del) c.2751del (p.Tyr917Ter) c.2805del (p.Tyr935Ter) c.1158del c.*2127del (n.*2127del) c.230+9427del c.2835del (p.Tyr945Ter) c.2730del (p.Tyr910Ter) c.2721del (p.Tyr907Ter) c.2682del (p.Tyr894Ter) c.2628del (p.Tyr876Ter) c.2532del (p.Tyr844Ter) c.2502del (p.Tyr834Ter) c.2427del (p.Tyr809Ter) c.2325del (p.Tyr775Ter) c.1956del (p.Tyr652Ter) | ClinVar dbSNP |
| 5 | g.112838399C>A | CA007805 | APC | c.2470C>A (n.2470C>A) c.2859C>A (p.Tyr953Ter) c.*2811C>A (n.*2811C>A) c.2751C>A (p.Tyr917Ter) c.2805C>A (p.Tyr935Ter) c.1158C>A c.*2127C>A (n.*2127C>A) c.230+9427C>A c.2835C>A (p.Tyr945Ter) c.2730C>A (p.Tyr910Ter) c.2721C>A (p.Tyr907Ter) c.2682C>A (p.Tyr894Ter) c.2628C>A (p.Tyr876Ter) c.2532C>A (p.Tyr844Ter) c.2502C>A (p.Tyr834Ter) c.2427C>A (p.Tyr809Ter) c.2325C>A (p.Tyr775Ter) c.1956C>A (p.Tyr652Ter) | ClinVar dbSNP COSMIC |
| 5 | g.112838399C= | CA1573484186 | APC | c.2470C= (n.2470C=) c.2859C= (p.Tyr953=) c.*2811C= (n.*2811C=) c.2751C= (p.Tyr917=) c.2805C= (p.Tyr935=) c.1158C= c.*2127C= (n.*2127C=) c.230+9427C= c.2835C= (p.Tyr945=) c.2730C= (p.Tyr910=) c.2721C= (p.Tyr907=) c.2682C= (p.Tyr894=) c.2628C= (p.Tyr876=) c.2532C= (p.Tyr844=) c.2502C= (p.Tyr834=) c.2427C= (p.Tyr809=) c.2325C= (p.Tyr775=) c.1956C= (p.Tyr652=) | |
| 5 | g.112838399C>G | CA007811 | APC | c.2470C>G (n.2470C>G) c.2859C>G (p.Tyr953Ter) c.*2811C>G (n.*2811C>G) c.2751C>G (p.Tyr917Ter) c.2805C>G (p.Tyr935Ter) c.1158C>G c.*2127C>G (n.*2127C>G) c.230+9427C>G c.2835C>G (p.Tyr945Ter) c.2730C>G (p.Tyr910Ter) c.2721C>G (p.Tyr907Ter) c.2682C>G (p.Tyr894Ter) c.2628C>G (p.Tyr876Ter) c.2532C>G (p.Tyr844Ter) c.2502C>G (p.Tyr834Ter) c.2427C>G (p.Tyr809Ter) c.2325C>G (p.Tyr775Ter) c.1956C>G (p.Tyr652Ter) | ClinVar dbSNP COSMIC |
| 5 | g.112838399C>T | CA007819 | APC | c.2470C>T (n.2470C>T) c.2859C>T (p.Tyr953=) c.*2811C>T (n.*2811C>T) c.2751C>T (p.Tyr917=) c.2805C>T (p.Tyr935=) c.1158C>T c.*2127C>T (n.*2127C>T) c.230+9427C>T c.2835C>T (p.Tyr945=) c.2730C>T (p.Tyr910=) c.2721C>T (p.Tyr907=) c.2682C>T (p.Tyr894=) c.2628C>T (p.Tyr876=) c.2532C>T (p.Tyr844=) c.2502C>T (p.Tyr834=) c.2427C>T (p.Tyr809=) c.2325C>T (p.Tyr775=) c.1956C>T (p.Tyr652=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.112838399dup | CA658760834 | APC | c.2470dup (n.2470dup) c.2859dup (p.Asn954GlnfsTer4) c.*2811dup (n.*2811dup) c.2751dup (p.Asn918GlnfsTer4) c.2805dup (p.Asn936GlnfsTer4) c.1158dup c.*2127dup (n.*2127dup) c.230+9427dup c.2835dup (p.Asn946GlnfsTer4) c.2730dup (p.Asn911GlnfsTer4) c.2721dup (p.Asn908GlnfsTer4) c.2682dup (p.Asn895GlnfsTer4) c.2628dup (p.Asn877GlnfsTer4) c.2532dup (p.Asn845GlnfsTer4) c.2502dup (p.Asn835GlnfsTer4) c.2427dup (p.Asn810GlnfsTer4) c.2325dup (p.Asn776GlnfsTer4) c.1956dup (p.Asn653GlnfsTer4) | |
| 5 | g.112838399_112838400insT | CA645562864 | APC | c.2470_2471insT (n.2470_2471insT) c.2859_2860insT (p.Asn954Ter) c.*2811_*2812insT (n.*2811_*2812insT) c.2751_2752insT (p.Asn918Ter) c.2805_2806insT (p.Asn936Ter) c.1158_1159insT c.*2127_*2128insT (n.*2127_*2128insT) c.230+9427_230+9428insT c.2835_2836insT (p.Asn946Ter) c.2730_2731insT (p.Asn911Ter) c.2721_2722insT (p.Asn908Ter) c.2682_2683insT (p.Asn895Ter) c.2628_2629insT (p.Asn877Ter) c.2532_2533insT (p.Asn845Ter) c.2502_2503insT (p.Asn835Ter) c.2427_2428insT (p.Asn810Ter) c.2325_2326insT (p.Asn776Ter) c.1956_1957insT (p.Asn653Ter) | COSMIC |
| 5 | g.112838400A>C | CA16027448 | APC | c.2471A>C (n.2471A>C) c.2860A>C (p.Asn954His) c.*2812A>C (n.*2812A>C) c.2752A>C (p.Asn918His) c.2806A>C (p.Asn936His) c.1159A>C c.*2128A>C (n.*2128A>C) c.230+9428A>C c.2836A>C (p.Asn946His) c.2731A>C (p.Asn911His) c.2722A>C (p.Asn908His) c.2683A>C (p.Asn895His) c.2629A>C (p.Asn877His) c.2533A>C (p.Asn845His) c.2503A>C (p.Asn835His) c.2428A>C (p.Asn810His) c.2326A>C (p.Asn776His) c.1957A>C (p.Asn653His) | ClinVar |
| 5 | g.112838400A>G | CA16027449 | APC | c.2471A>G (n.2471A>G) c.2860A>G (p.Asn954Asp) c.*2812A>G (n.*2812A>G) c.2752A>G (p.Asn918Asp) c.2806A>G (p.Asn936Asp) c.1159A>G c.*2128A>G (n.*2128A>G) c.230+9428A>G c.2836A>G (p.Asn946Asp) c.2731A>G (p.Asn911Asp) c.2722A>G (p.Asn908Asp) c.2683A>G (p.Asn895Asp) c.2629A>G (p.Asn877Asp) c.2533A>G (p.Asn845Asp) c.2503A>G (p.Asn835Asp) c.2428A>G (p.Asn810Asp) c.2326A>G (p.Asn776Asp) c.1957A>G (p.Asn653Asp) | dbSNP |
| 5 | g.112838400A>T | CA16027450 | APC | c.2471A>T (n.2471A>T) c.2860A>T (p.Asn954Tyr) c.*2812A>T (n.*2812A>T) c.2752A>T (p.Asn918Tyr) c.2806A>T (p.Asn936Tyr) c.1159A>T c.*2128A>T (n.*2128A>T) c.230+9428A>T c.2836A>T (p.Asn946Tyr) c.2731A>T (p.Asn911Tyr) c.2722A>T (p.Asn908Tyr) c.2683A>T (p.Asn895Tyr) c.2629A>T (p.Asn877Tyr) c.2533A>T (p.Asn845Tyr) c.2503A>T (p.Asn835Tyr) c.2428A>T (p.Asn810Tyr) c.2326A>T (p.Asn776Tyr) c.1957A>T (p.Asn653Tyr) | ClinVar dbSNP |
| 5 | g.112838401dup | CA445962906 | APC | c.2472dup (n.2472dup) c.2861dup (p.Asn954LysfsTer4) c.*2813dup (n.*2813dup) c.2753dup (p.Asn918LysfsTer4) c.2807dup (p.Asn936LysfsTer4) c.1160dup c.*2129dup (n.*2129dup) c.230+9429dup c.2837dup (p.Asn946LysfsTer4) c.2732dup (p.Asn911LysfsTer4) c.2723dup (p.Asn908LysfsTer4) c.2684dup (p.Asn895LysfsTer4) c.2630dup (p.Asn877LysfsTer4) c.2534dup (p.Asn845LysfsTer4) c.2504dup (p.Asn835LysfsTer4) c.2429dup (p.Asn810LysfsTer4) c.2327dup (p.Asn776LysfsTer4) c.1958dup (p.Asn653LysfsTer4) | |
| 5 | g.112838401del | CA2580072800 | APC | c.2472del (n.2472del) c.2861del (p.Asn954IlefsTer19) c.*2813del (n.*2813del) c.2753del (p.Asn918IlefsTer19) c.2807del (p.Asn936IlefsTer19) c.1160del c.*2129del (n.*2129del) c.230+9429del c.2837del (p.Asn946IlefsTer19) c.2732del (p.Asn911IlefsTer19) c.2723del (p.Asn908IlefsTer19) c.2684del (p.Asn895IlefsTer19) c.2630del (p.Asn877IlefsTer19) c.2534del (p.Asn845IlefsTer19) c.2504del (p.Asn835IlefsTer19) c.2429del (p.Asn810IlefsTer19) c.2327del (p.Asn776IlefsTer19) c.1958del (p.Asn653IlefsTer19) | ClinVar |
| 5 | g.112838400_112838401insT | CA445962908 | APC | c.2471_2472insT (n.2471_2472insT) c.2860_2861insT (p.Asn954IlefsTer4) c.*2812_*2813insT (n.*2812_*2813insT) c.2752_2753insT (p.Asn918IlefsTer4) c.2806_2807insT (p.Asn936IlefsTer4) c.1159_1160insT c.*2128_*2129insT (n.*2128_*2129insT) c.230+9428_230+9429insT c.2836_2837insT (p.Asn946IlefsTer4) c.2731_2732insT (p.Asn911IlefsTer4) c.2722_2723insT (p.Asn908IlefsTer4) c.2683_2684insT (p.Asn895IlefsTer4) c.2629_2630insT (p.Asn877IlefsTer4) c.2533_2534insT (p.Asn845IlefsTer4) c.2503_2504insT (p.Asn835IlefsTer4) c.2428_2429insT (p.Asn810IlefsTer4) c.2326_2327insT (p.Asn776IlefsTer4) c.1957_1958insT (p.Asn653IlefsTer4) | |
| 5 | g.112838401A= | CA1573484200 | APC | c.2472A= (n.2472A=) c.2861A= (p.Asn954=) c.*2813A= (n.*2813A=) c.2753A= (p.Asn918=) c.2807A= (p.Asn936=) c.1160A= c.*2129A= (n.*2129A=) c.230+9429A= c.2837A= (p.Asn946=) c.2732A= (p.Asn911=) c.2723A= (p.Asn908=) c.2684A= (p.Asn895=) c.2630A= (p.Asn877=) c.2534A= (p.Asn845=) c.2504A= (p.Asn835=) c.2429A= (p.Asn810=) c.2327A= (p.Asn776=) c.1958A= (p.Asn653=) | |
| 5 | g.112838401A>C | CA16027451 | APC | c.2472A>C (n.2472A>C) c.2861A>C (p.Asn954Thr) c.*2813A>C (n.*2813A>C) c.2753A>C (p.Asn918Thr) c.2807A>C (p.Asn936Thr) c.1160A>C c.*2129A>C (n.*2129A>C) c.230+9429A>C c.2837A>C (p.Asn946Thr) c.2732A>C (p.Asn911Thr) c.2723A>C (p.Asn908Thr) c.2684A>C (p.Asn895Thr) c.2630A>C (p.Asn877Thr) c.2534A>C (p.Asn845Thr) c.2504A>C (p.Asn835Thr) c.2429A>C (p.Asn810Thr) c.2327A>C (p.Asn776Thr) c.1958A>C (p.Asn653Thr) | |
| 5 | g.112838401A>G | CA10582302 | APC | c.2472A>G (n.2472A>G) c.2861A>G (p.Asn954Ser) c.*2813A>G (n.*2813A>G) c.2753A>G (p.Asn918Ser) c.2807A>G (p.Asn936Ser) c.1160A>G c.*2129A>G (n.*2129A>G) c.230+9429A>G c.2837A>G (p.Asn946Ser) c.2732A>G (p.Asn911Ser) c.2723A>G (p.Asn908Ser) c.2684A>G (p.Asn895Ser) c.2630A>G (p.Asn877Ser) c.2534A>G (p.Asn845Ser) c.2504A>G (p.Asn835Ser) c.2429A>G (p.Asn810Ser) c.2327A>G (p.Asn776Ser) c.1958A>G (p.Asn653Ser) | ClinVar dbSNP gnomAD v4 |
| 5 | g.112838401A>T | CA16027452 | APC | c.2472A>T (n.2472A>T) c.2861A>T (p.Asn954Ile) c.*2813A>T (n.*2813A>T) c.2753A>T (p.Asn918Ile) c.2807A>T (p.Asn936Ile) c.1160A>T c.*2129A>T (n.*2129A>T) c.230+9429A>T c.2837A>T (p.Asn946Ile) c.2732A>T (p.Asn911Ile) c.2723A>T (p.Asn908Ile) c.2684A>T (p.Asn895Ile) c.2630A>T (p.Asn877Ile) c.2534A>T (p.Asn845Ile) c.2504A>T (p.Asn835Ile) c.2429A>T (p.Asn810Ile) c.2327A>T (p.Asn776Ile) c.1958A>T (p.Asn653Ile) | |
| 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.112838402T>A | CA16027453 | APC | c.2473T>A (n.2473T>A) c.2862T>A (p.Asn954Lys) c.*2814T>A (n.*2814T>A) c.2754T>A (p.Asn918Lys) c.2808T>A (p.Asn936Lys) c.1161T>A c.*2130T>A (n.*2130T>A) c.230+9430T>A c.2838T>A (p.Asn946Lys) c.2733T>A (p.Asn911Lys) c.2724T>A (p.Asn908Lys) c.2685T>A (p.Asn895Lys) c.2631T>A (p.Asn877Lys) c.2535T>A (p.Asn845Lys) c.2505T>A (p.Asn835Lys) c.2430T>A (p.Asn810Lys) c.2328T>A (p.Asn776Lys) c.1959T>A (p.Asn653Lys) | dbSNP |
| 5 | g.112838402T>C | CA033511 | APC | c.2473T>C (n.2473T>C) c.2862T>C (p.Asn954=) c.*2814T>C (n.*2814T>C) c.2754T>C (p.Asn918=) c.2808T>C (p.Asn936=) c.1161T>C c.*2130T>C (n.*2130T>C) c.230+9430T>C c.2838T>C (p.Asn946=) c.2733T>C (p.Asn911=) c.2724T>C (p.Asn908=) c.2685T>C (p.Asn895=) c.2631T>C (p.Asn877=) c.2535T>C (p.Asn845=) c.2505T>C (p.Asn835=) c.2430T>C (p.Asn810=) c.2328T>C (p.Asn776=) c.1959T>C (p.Asn653=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.112838402T>G | CA16027454 | APC | c.2473T>G (n.2473T>G) c.2862T>G (p.Asn954Lys) c.*2814T>G (n.*2814T>G) c.2754T>G (p.Asn918Lys) c.2808T>G (p.Asn936Lys) c.1161T>G c.*2130T>G (n.*2130T>G) c.230+9430T>G c.2838T>G (p.Asn946Lys) c.2733T>G (p.Asn911Lys) c.2724T>G (p.Asn908Lys) c.2685T>G (p.Asn895Lys) c.2631T>G (p.Asn877Lys) c.2535T>G (p.Asn845Lys) c.2505T>G (p.Asn835Lys) c.2430T>G (p.Asn810Lys) c.2328T>G (p.Asn776Lys) c.1959T>G (p.Asn653Lys) | |
| 5 | g.112838402T= | CA1573484213 | APC | c.2473T= (n.2473T=) c.2862T= (p.Asn954=) c.*2814T= (n.*2814T=) c.2754T= (p.Asn918=) c.2808T= (p.Asn936=) c.1161T= c.*2130T= (n.*2130T=) c.230+9430T= c.2838T= (p.Asn946=) c.2733T= (p.Asn911=) c.2724T= (p.Asn908=) c.2685T= (p.Asn895=) c.2631T= (p.Asn877=) c.2535T= (p.Asn845=) c.2505T= (p.Asn835=) c.2430T= (p.Asn810=) c.2328T= (p.Asn776=) c.1959T= (p.Asn653=) | |
| 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.112838403T>A | CA16027455 | APC | c.2474T>A (n.2474T>A) c.2863T>A (p.Phe955Ile) c.*2815T>A (n.*2815T>A) c.2755T>A (p.Phe919Ile) c.2809T>A (p.Phe937Ile) c.1162T>A c.*2131T>A (n.*2131T>A) c.230+9431T>A c.2839T>A (p.Phe947Ile) c.2734T>A (p.Phe912Ile) c.2725T>A (p.Phe909Ile) c.2686T>A (p.Phe896Ile) c.2632T>A (p.Phe878Ile) c.2536T>A (p.Phe846Ile) c.2506T>A (p.Phe836Ile) c.2431T>A (p.Phe811Ile) c.2329T>A (p.Phe777Ile) c.1960T>A (p.Phe654Ile) | dbSNP |
| 5 | g.112838403T>C | CA16027456 | APC | c.2474T>C (n.2474T>C) c.2863T>C (p.Phe955Leu) c.*2815T>C (n.*2815T>C) c.2755T>C (p.Phe919Leu) c.2809T>C (p.Phe937Leu) c.1162T>C c.*2131T>C (n.*2131T>C) c.230+9431T>C c.2839T>C (p.Phe947Leu) c.2734T>C (p.Phe912Leu) c.2725T>C (p.Phe909Leu) c.2686T>C (p.Phe896Leu) c.2632T>C (p.Phe878Leu) c.2536T>C (p.Phe846Leu) c.2506T>C (p.Phe836Leu) c.2431T>C (p.Phe811Leu) c.2329T>C (p.Phe777Leu) c.1960T>C (p.Phe654Leu) | |
| 5 | g.112838403T>G | CA16027457 | APC | c.2474T>G (n.2474T>G) c.2863T>G (p.Phe955Val) c.*2815T>G (n.*2815T>G) c.2755T>G (p.Phe919Val) c.2809T>G (p.Phe937Val) c.1162T>G c.*2131T>G (n.*2131T>G) c.230+9431T>G c.2839T>G (p.Phe947Val) c.2734T>G (p.Phe912Val) c.2725T>G (p.Phe909Val) c.2686T>G (p.Phe896Val) c.2632T>G (p.Phe878Val) c.2536T>G (p.Phe846Val) c.2506T>G (p.Phe836Val) c.2431T>G (p.Phe811Val) c.2329T>G (p.Phe777Val) c.1960T>G (p.Phe654Val) | |
| 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=) |