| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.144396571G>A | CA16042406 | ZEB2 | c.*2757C>T (n.*2757C>T) c.2131C>T (p.Gln711Ter) c.2908C>T (p.Gln970Ter) n.2877C>T c.2572C>T (p.Gln858Ter) c.2983C>T (p.Gln995Ter) c.*2625C>T (n.*2625C>T) n.3008C>T c.40C>T (p.Gln14Ter) c.439C>T (p.Gln147Ter) c.2905C>T (p.Gln969Ter) c.655+4628C>T (n.655+4628C>T) c.2836C>T (p.Gln946Ter) c.2899C>T (p.Gln967Ter) c.2887C>T (p.Gln963Ter) | ClinVar dbSNP |
| 2 | g.144396571G>C | CA348704828 | ZEB2 | c.*2757C>G (n.*2757C>G) c.2131C>G (p.Gln711Glu) c.2908C>G (p.Gln970Glu) n.2877C>G c.2572C>G (p.Gln858Glu) c.2983C>G (p.Gln995Glu) c.*2625C>G (n.*2625C>G) n.3008C>G c.40C>G (p.Gln14Glu) c.439C>G (p.Gln147Glu) c.2905C>G (p.Gln969Glu) c.655+4628C>G (n.655+4628C>G) c.2836C>G (p.Gln946Glu) c.2899C>G (p.Gln967Glu) c.2887C>G (p.Gln963Glu) | gnomAD v4 |
| 2 | g.144396571G= | CA1294884116 | ZEB2 | c.*2757C= (n.*2757C=) c.2131C= (p.Gln711=) c.2908C= (p.Gln970=) n.2877C= c.2572C= (p.Gln858=) c.2983C= (p.Gln995=) c.*2625C= (n.*2625C=) n.3008C= c.40C= (p.Gln14=) c.439C= (p.Gln147=) c.2905C= (p.Gln969=) c.655+4628C= (n.655+4628C=) c.2836C= (p.Gln946=) c.2899C= (p.Gln967=) c.2887C= (p.Gln963=) | |
| 2 | g.144396571G>T | CA348704827 | ZEB2 | c.*2757C>A (n.*2757C>A) c.2131C>A (p.Gln711Lys) c.2908C>A (p.Gln970Lys) n.2877C>A c.2572C>A (p.Gln858Lys) c.2983C>A (p.Gln995Lys) c.*2625C>A (n.*2625C>A) n.3008C>A c.40C>A (p.Gln14Lys) c.439C>A (p.Gln147Lys) c.2905C>A (p.Gln969Lys) c.655+4628C>A (n.655+4628C>A) c.2836C>A (p.Gln946Lys) c.2899C>A (p.Gln967Lys) c.2887C>A (p.Gln963Lys) | |
| 2 | g.144396572del | CA2586970068 | ZEB2 | c.*2756del (n.*2756del) c.2130del (p.Gln711LysfsTer7) c.2907del (p.Gln970LysfsTer7) n.2876del c.2571del (p.Gln858LysfsTer7) c.2982del (p.Gln995LysfsTer7) c.*2624del (n.*2624del) n.3007del c.39del (p.Gln14LysfsTer7) c.438del (p.Gln147LysfsTer7) c.2904del (p.Gln969LysfsTer7) c.655+4627del (n.655+4627del) c.2835del (p.Gln946LysfsTer7) c.2898del (p.Gln967LysfsTer7) c.2886del (p.Gln963LysfsTer7) | |
| 2 | g.144396572T>A | CA429217650 | ZEB2 | c.*2756A>T (n.*2756A>T) c.2130A>T (p.Ala710=) c.2907A>T (p.Ala969=) n.2876A>T c.2571A>T (p.Ala857=) c.2982A>T (p.Ala994=) c.*2624A>T (n.*2624A>T) n.3007A>T c.39A>T (p.Ala13=) c.438A>T (p.Ala146=) c.2904A>T (p.Ala968=) c.655+4627A>T (n.655+4627A>T) c.2835A>T (p.Ala945=) c.2898A>T (p.Ala966=) c.2886A>T (p.Ala962=) | |
| 2 | g.144396572T>C | CA16603882 | ZEB2 | c.*2756A>G (n.*2756A>G) c.2130A>G (p.Ala710=) c.2907A>G (p.Ala969=) n.2876A>G c.2571A>G (p.Ala857=) c.2982A>G (p.Ala994=) c.*2624A>G (n.*2624A>G) n.3007A>G c.39A>G (p.Ala13=) c.438A>G (p.Ala146=) c.2904A>G (p.Ala968=) c.655+4627A>G (n.655+4627A>G) c.2835A>G (p.Ala945=) c.2898A>G (p.Ala966=) c.2886A>G (p.Ala962=) | ClinVar dbSNP |
| 2 | g.144396572T>G | CA429217651 | ZEB2 | c.*2756A>C (n.*2756A>C) c.2130A>C (p.Ala710=) c.2907A>C (p.Ala969=) n.2876A>C c.2571A>C (p.Ala857=) c.2982A>C (p.Ala994=) c.*2624A>C (n.*2624A>C) n.3007A>C c.39A>C (p.Ala13=) c.438A>C (p.Ala146=) c.2904A>C (p.Ala968=) c.655+4627A>C (n.655+4627A>C) c.2835A>C (p.Ala945=) c.2898A>C (p.Ala966=) c.2886A>C (p.Ala962=) | |
| 2 | g.144396572T= | CA1294884117 | ZEB2 | c.*2756A= (n.*2756A=) c.2130A= (p.Ala710=) c.2907A= (p.Ala969=) n.2876A= c.2571A= (p.Ala857=) c.2982A= (p.Ala994=) c.*2624A= (n.*2624A=) n.3007A= c.39A= (p.Ala13=) c.438A= (p.Ala146=) c.2904A= (p.Ala968=) c.655+4627A= (n.655+4627A=) c.2835A= (p.Ala945=) c.2898A= (p.Ala966=) c.2886A= (p.Ala962=) | |
| 2 | g.144396573G>A | CA348704840 | ZEB2 | c.*2755C>T (n.*2755C>T) c.2129C>T (p.Ala710Val) c.2906C>T (p.Ala969Val) n.2875C>T c.2570C>T (p.Ala857Val) c.2981C>T (p.Ala994Val) c.*2623C>T (n.*2623C>T) n.3006C>T c.38C>T (p.Ala13Val) c.437C>T (p.Ala146Val) c.2903C>T (p.Ala968Val) c.655+4626C>T (n.655+4626C>T) c.2834C>T (p.Ala945Val) c.2897C>T (p.Ala966Val) c.2885C>T (p.Ala962Val) | |
| 2 | g.144396573G>C | CA348704849 | ZEB2 | c.*2755C>G (n.*2755C>G) c.2129C>G (p.Ala710Gly) c.2906C>G (p.Ala969Gly) n.2875C>G c.2570C>G (p.Ala857Gly) c.2981C>G (p.Ala994Gly) c.*2623C>G (n.*2623C>G) n.3006C>G c.38C>G (p.Ala13Gly) c.437C>G (p.Ala146Gly) c.2903C>G (p.Ala968Gly) c.655+4626C>G (n.655+4626C>G) c.2834C>G (p.Ala945Gly) c.2897C>G (p.Ala966Gly) c.2885C>G (p.Ala962Gly) | |
| 2 | g.144396573G>T | CA348704852 | ZEB2 | c.*2755C>A (n.*2755C>A) c.2129C>A (p.Ala710Glu) c.2906C>A (p.Ala969Glu) n.2875C>A c.2570C>A (p.Ala857Glu) c.2981C>A (p.Ala994Glu) c.*2623C>A (n.*2623C>A) n.3006C>A c.38C>A (p.Ala13Glu) c.437C>A (p.Ala146Glu) c.2903C>A (p.Ala968Glu) c.655+4626C>A (n.655+4626C>A) c.2834C>A (p.Ala945Glu) c.2897C>A (p.Ala966Glu) c.2885C>A (p.Ala962Glu) | COSMIC |
| 2 | g.144396574C>A | CA348704856 | ZEB2 | c.*2754G>T (n.*2754G>T) c.2128G>T (p.Ala710Ser) c.2905G>T (p.Ala969Ser) n.2874G>T c.2569G>T (p.Ala857Ser) c.2980G>T (p.Ala994Ser) c.*2622G>T (n.*2622G>T) n.3005G>T c.37G>T (p.Ala13Ser) c.436G>T (p.Ala146Ser) c.2902G>T (p.Ala968Ser) c.655+4625G>T (n.655+4625G>T) c.2833G>T (p.Ala945Ser) c.2896G>T (p.Ala966Ser) c.2884G>T (p.Ala962Ser) | |
| 2 | g.144396574C= | CA1294884118 | ZEB2 | c.*2754G= (n.*2754G=) c.2128G= (p.Ala710=) c.2905G= (p.Ala969=) n.2874G= c.2569G= (p.Ala857=) c.2980G= (p.Ala994=) c.*2622G= (n.*2622G=) n.3005G= c.37G= (p.Ala13=) c.436G= (p.Ala146=) c.2902G= (p.Ala968=) c.655+4625G= (n.655+4625G=) c.2833G= (p.Ala945=) c.2896G= (p.Ala966=) c.2884G= (p.Ala962=) | |
| 2 | g.144396574C>G | CA348704859 | ZEB2 | c.*2754G>C (n.*2754G>C) c.2128G>C (p.Ala710Pro) c.2905G>C (p.Ala969Pro) n.2874G>C c.2569G>C (p.Ala857Pro) c.2980G>C (p.Ala994Pro) c.*2622G>C (n.*2622G>C) n.3005G>C c.37G>C (p.Ala13Pro) c.436G>C (p.Ala146Pro) c.2902G>C (p.Ala968Pro) c.655+4625G>C (n.655+4625G>C) c.2833G>C (p.Ala945Pro) c.2896G>C (p.Ala966Pro) c.2884G>C (p.Ala962Pro) | |
| 2 | g.144396574C>T | CA348704862 | ZEB2 | c.*2754G>A (n.*2754G>A) c.2128G>A (p.Ala710Thr) c.2905G>A (p.Ala969Thr) n.2874G>A c.2569G>A (p.Ala857Thr) c.2980G>A (p.Ala994Thr) c.*2622G>A (n.*2622G>A) n.3005G>A c.37G>A (p.Ala13Thr) c.436G>A (p.Ala146Thr) c.2902G>A (p.Ala968Thr) c.655+4625G>A (n.655+4625G>A) c.2833G>A (p.Ala945Thr) c.2896G>A (p.Ala966Thr) c.2884G>A (p.Ala962Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.144396575T>A | CA429217652 | ZEB2 | c.*2753A>T (n.*2753A>T) c.2127A>T (p.Gly709=) c.2904A>T (p.Gly968=) n.2873A>T c.2568A>T (p.Gly856=) c.2979A>T (p.Gly993=) c.*2621A>T (n.*2621A>T) n.3004A>T c.36A>T (p.Gly12=) c.435A>T (p.Gly145=) c.2901A>T (p.Gly967=) c.655+4624A>T (n.655+4624A>T) c.2832A>T (p.Gly944=) c.2895A>T (p.Gly965=) c.2883A>T (p.Gly961=) | |
| 2 | g.144396575T>C | CA429217653 | ZEB2 | c.*2753A>G (n.*2753A>G) c.2127A>G (p.Gly709=) c.2904A>G (p.Gly968=) n.2873A>G c.2568A>G (p.Gly856=) c.2979A>G (p.Gly993=) c.*2621A>G (n.*2621A>G) n.3004A>G c.36A>G (p.Gly12=) c.435A>G (p.Gly145=) c.2901A>G (p.Gly967=) c.655+4624A>G (n.655+4624A>G) c.2832A>G (p.Gly944=) c.2895A>G (p.Gly965=) c.2883A>G (p.Gly961=) | |
| 2 | g.144396575T>G | CA429217654 | ZEB2 | c.*2753A>C (n.*2753A>C) c.2127A>C (p.Gly709=) c.2904A>C (p.Gly968=) n.2873A>C c.2568A>C (p.Gly856=) c.2979A>C (p.Gly993=) c.*2621A>C (n.*2621A>C) n.3004A>C c.36A>C (p.Gly12=) c.435A>C (p.Gly145=) c.2901A>C (p.Gly967=) c.655+4624A>C (n.655+4624A>C) c.2832A>C (p.Gly944=) c.2895A>C (p.Gly965=) c.2883A>C (p.Gly961=) | |
| 2 | g.144396576C>A | CA348704884 | ZEB2 | c.*2752G>T (n.*2752G>T) c.2126G>T (p.Gly709Val) c.2903G>T (p.Gly968Val) n.2872G>T c.2567G>T (p.Gly856Val) c.2978G>T (p.Gly993Val) c.*2620G>T (n.*2620G>T) n.3003G>T c.35G>T (p.Gly12Val) c.434G>T (p.Gly145Val) c.2900G>T (p.Gly967Val) c.655+4623G>T (n.655+4623G>T) c.2831G>T (p.Gly944Val) c.2894G>T (p.Gly965Val) c.2882G>T (p.Gly961Val) | |
| 2 | g.144396576C>G | CA348704874 | ZEB2 | c.*2752G>C (n.*2752G>C) c.2126G>C (p.Gly709Ala) c.2903G>C (p.Gly968Ala) n.2872G>C c.2567G>C (p.Gly856Ala) c.2978G>C (p.Gly993Ala) c.*2620G>C (n.*2620G>C) n.3003G>C c.35G>C (p.Gly12Ala) c.434G>C (p.Gly145Ala) c.2900G>C (p.Gly967Ala) c.655+4623G>C (n.655+4623G>C) c.2831G>C (p.Gly944Ala) c.2894G>C (p.Gly965Ala) c.2882G>C (p.Gly961Ala) | |
| 2 | g.144396576C>T | CA348704877 | ZEB2 | c.*2752G>A (n.*2752G>A) c.2126G>A (p.Gly709Glu) c.2903G>A (p.Gly968Glu) n.2872G>A c.2567G>A (p.Gly856Glu) c.2978G>A (p.Gly993Glu) c.*2620G>A (n.*2620G>A) n.3003G>A c.35G>A (p.Gly12Glu) c.434G>A (p.Gly145Glu) c.2900G>A (p.Gly967Glu) c.655+4623G>A (n.655+4623G>A) c.2831G>A (p.Gly944Glu) c.2894G>A (p.Gly965Glu) c.2882G>A (p.Gly961Glu) | |
| 2 | g.144396577C>A | CA348704890 | ZEB2 | c.*2751G>T (n.*2751G>T) c.2125G>T (p.Gly709Ter) c.2902G>T (p.Gly968Ter) n.2871G>T c.2566G>T (p.Gly856Ter) c.2977G>T (p.Gly993Ter) c.*2619G>T (n.*2619G>T) n.3002G>T c.34G>T (p.Gly12Ter) c.433G>T (p.Gly145Ter) c.2899G>T (p.Gly967Ter) c.655+4622G>T (n.655+4622G>T) c.2830G>T (p.Gly944Ter) c.2893G>T (p.Gly965Ter) c.2881G>T (p.Gly961Ter) | |
| 2 | g.144396577C>G | CA348704892 | ZEB2 | c.*2751G>C (n.*2751G>C) c.2125G>C (p.Gly709Arg) c.2902G>C (p.Gly968Arg) n.2871G>C c.2566G>C (p.Gly856Arg) c.2977G>C (p.Gly993Arg) c.*2619G>C (n.*2619G>C) n.3002G>C c.34G>C (p.Gly12Arg) c.433G>C (p.Gly145Arg) c.2899G>C (p.Gly967Arg) c.655+4622G>C (n.655+4622G>C) c.2830G>C (p.Gly944Arg) c.2893G>C (p.Gly965Arg) c.2881G>C (p.Gly961Arg) | |
| 2 | g.144396577C>T | CA348704894 | ZEB2 | c.*2751G>A (n.*2751G>A) c.2125G>A (p.Gly709Arg) c.2902G>A (p.Gly968Arg) n.2871G>A c.2566G>A (p.Gly856Arg) c.2977G>A (p.Gly993Arg) c.*2619G>A (n.*2619G>A) n.3002G>A c.34G>A (p.Gly12Arg) c.433G>A (p.Gly145Arg) c.2899G>A (p.Gly967Arg) c.655+4622G>A (n.655+4622G>A) c.2830G>A (p.Gly944Arg) c.2893G>A (p.Gly965Arg) c.2881G>A (p.Gly961Arg) | |
| 2 | g.144396578A>C | CA348704900 | ZEB2 | c.*2750T>G (n.*2750T>G) c.2124T>G (p.Asp708Glu) c.2901T>G (p.Asp967Glu) n.2870T>G c.2565T>G (p.Asp855Glu) c.2976T>G (p.Asp992Glu) c.*2618T>G (n.*2618T>G) n.3001T>G c.33T>G (p.Asp11Glu) c.432T>G (p.Asp144Glu) c.2898T>G (p.Asp966Glu) c.655+4621T>G (n.655+4621T>G) c.2829T>G (p.Asp943Glu) c.2892T>G (p.Asp964Glu) c.2880T>G (p.Asp960Glu) | |
| 2 | g.144396578A>G | CA429217655 | ZEB2 | c.*2750T>C (n.*2750T>C) c.2124T>C (p.Asp708=) c.2901T>C (p.Asp967=) n.2870T>C c.2565T>C (p.Asp855=) c.2976T>C (p.Asp992=) c.*2618T>C (n.*2618T>C) n.3001T>C c.33T>C (p.Asp11=) c.432T>C (p.Asp144=) c.2898T>C (p.Asp966=) c.655+4621T>C (n.655+4621T>C) c.2829T>C (p.Asp943=) c.2892T>C (p.Asp964=) c.2880T>C (p.Asp960=) | |
| 2 | g.144396578A>T | CA348704903 | ZEB2 | c.*2750T>A (n.*2750T>A) c.2124T>A (p.Asp708Glu) c.2901T>A (p.Asp967Glu) n.2870T>A c.2565T>A (p.Asp855Glu) c.2976T>A (p.Asp992Glu) c.*2618T>A (n.*2618T>A) n.3001T>A c.33T>A (p.Asp11Glu) c.432T>A (p.Asp144Glu) c.2898T>A (p.Asp966Glu) c.655+4621T>A (n.655+4621T>A) c.2829T>A (p.Asp943Glu) c.2892T>A (p.Asp964Glu) c.2880T>A (p.Asp960Glu) | |
| 2 | g.144396579T>A | CA348704908 | ZEB2 | c.*2749A>T (n.*2749A>T) c.2123A>T (p.Asp708Val) c.2900A>T (p.Asp967Val) n.2869A>T c.2564A>T (p.Asp855Val) c.2975A>T (p.Asp992Val) c.*2617A>T (n.*2617A>T) n.3000A>T c.32A>T (p.Asp11Val) c.431A>T (p.Asp144Val) c.2897A>T (p.Asp966Val) c.655+4620A>T (n.655+4620A>T) c.2828A>T (p.Asp943Val) c.2891A>T (p.Asp964Val) c.2879A>T (p.Asp960Val) | |
| 2 | g.144396579T>C | CA348704917 | ZEB2 | c.*2749A>G (n.*2749A>G) c.2123A>G (p.Asp708Gly) c.2900A>G (p.Asp967Gly) n.2869A>G c.2564A>G (p.Asp855Gly) c.2975A>G (p.Asp992Gly) c.*2617A>G (n.*2617A>G) n.3000A>G c.32A>G (p.Asp11Gly) c.431A>G (p.Asp144Gly) c.2897A>G (p.Asp966Gly) c.655+4620A>G (n.655+4620A>G) c.2828A>G (p.Asp943Gly) c.2891A>G (p.Asp964Gly) c.2879A>G (p.Asp960Gly) | |
| 2 | g.144396579T>G | CA348704913 | ZEB2 | c.*2749A>C (n.*2749A>C) c.2123A>C (p.Asp708Ala) c.2900A>C (p.Asp967Ala) n.2869A>C c.2564A>C (p.Asp855Ala) c.2975A>C (p.Asp992Ala) c.*2617A>C (n.*2617A>C) n.3000A>C c.32A>C (p.Asp11Ala) c.431A>C (p.Asp144Ala) c.2897A>C (p.Asp966Ala) c.655+4620A>C (n.655+4620A>C) c.2828A>C (p.Asp943Ala) c.2891A>C (p.Asp964Ala) c.2879A>C (p.Asp960Ala) | |
| 2 | g.144396580C>A | CA348704920 | ZEB2 | c.*2748G>T (n.*2748G>T) c.2122G>T (p.Asp708Tyr) c.2899G>T (p.Asp967Tyr) n.2868G>T c.2563G>T (p.Asp855Tyr) c.2974G>T (p.Asp992Tyr) c.*2616G>T (n.*2616G>T) n.2999G>T c.31G>T (p.Asp11Tyr) c.430G>T (p.Asp144Tyr) c.2896G>T (p.Asp966Tyr) c.655+4619G>T (n.655+4619G>T) c.2827G>T (p.Asp943Tyr) c.2890G>T (p.Asp964Tyr) c.2878G>T (p.Asp960Tyr) | |
| 2 | g.144396580C= | CA1294884119 | ZEB2 | c.*2748G= (n.*2748G=) c.2122G= (p.Asp708=) c.2899G= (p.Asp967=) n.2868G= c.2563G= (p.Asp855=) c.2974G= (p.Asp992=) c.*2616G= (n.*2616G=) n.2999G= c.31G= (p.Asp11=) c.430G= (p.Asp144=) c.2896G= (p.Asp966=) c.655+4619G= (n.655+4619G=) c.2827G= (p.Asp943=) c.2890G= (p.Asp964=) c.2878G= (p.Asp960=) | |
| 2 | g.144396580C>G | CA348704923 | ZEB2 | c.*2748G>C (n.*2748G>C) c.2122G>C (p.Asp708His) c.2899G>C (p.Asp967His) n.2868G>C c.2563G>C (p.Asp855His) c.2974G>C (p.Asp992His) c.*2616G>C (n.*2616G>C) n.2999G>C c.31G>C (p.Asp11His) c.430G>C (p.Asp144His) c.2896G>C (p.Asp966His) c.655+4619G>C (n.655+4619G>C) c.2827G>C (p.Asp943His) c.2890G>C (p.Asp964His) c.2878G>C (p.Asp960His) | |
| 2 | g.144396580C>T | CA348704928 | ZEB2 | c.*2748G>A (n.*2748G>A) c.2122G>A (p.Asp708Asn) c.2899G>A (p.Asp967Asn) n.2868G>A c.2563G>A (p.Asp855Asn) c.2974G>A (p.Asp992Asn) c.*2616G>A (n.*2616G>A) n.2999G>A c.31G>A (p.Asp11Asn) c.430G>A (p.Asp144Asn) c.2896G>A (p.Asp966Asn) c.655+4619G>A (n.655+4619G>A) c.2827G>A (p.Asp943Asn) c.2890G>A (p.Asp964Asn) c.2878G>A (p.Asp960Asn) | ClinVar dbSNP |
| 2 | g.144396581A>C | CA429217656 | ZEB2 | c.*2747T>G (n.*2747T>G) c.2121T>G (p.Leu707=) c.2898T>G (p.Leu966=) n.2867T>G c.2562T>G (p.Leu854=) c.2973T>G (p.Leu991=) c.*2615T>G (n.*2615T>G) n.2998T>G c.30T>G (p.Leu10=) c.429T>G (p.Leu143=) c.2895T>G (p.Leu965=) c.655+4618T>G (n.655+4618T>G) c.2826T>G (p.Leu942=) c.2889T>G (p.Leu963=) c.2877T>G (p.Leu959=) | |
| 2 | g.144396581A>G | CA429217657 | ZEB2 | c.*2747T>C (n.*2747T>C) c.2121T>C (p.Leu707=) c.2898T>C (p.Leu966=) n.2867T>C c.2562T>C (p.Leu854=) c.2973T>C (p.Leu991=) c.*2615T>C (n.*2615T>C) n.2998T>C c.30T>C (p.Leu10=) c.429T>C (p.Leu143=) c.2895T>C (p.Leu965=) c.655+4618T>C (n.655+4618T>C) c.2826T>C (p.Leu942=) c.2889T>C (p.Leu963=) c.2877T>C (p.Leu959=) | |
| 2 | g.144396581A>T | CA429217658 | ZEB2 | c.*2747T>A (n.*2747T>A) c.2121T>A (p.Leu707=) c.2898T>A (p.Leu966=) n.2867T>A c.2562T>A (p.Leu854=) c.2973T>A (p.Leu991=) c.*2615T>A (n.*2615T>A) n.2998T>A c.30T>A (p.Leu10=) c.429T>A (p.Leu143=) c.2895T>A (p.Leu965=) c.655+4618T>A (n.655+4618T>A) c.2826T>A (p.Leu942=) c.2889T>A (p.Leu963=) c.2877T>A (p.Leu959=) | |
| 2 | g.144396582A>C | CA348704944 | ZEB2 | c.*2746T>G (n.*2746T>G) c.2120T>G (p.Leu707Arg) c.2897T>G (p.Leu966Arg) n.2866T>G c.2561T>G (p.Leu854Arg) c.2972T>G (p.Leu991Arg) c.*2614T>G (n.*2614T>G) n.2997T>G c.29T>G (p.Leu10Arg) c.428T>G (p.Leu143Arg) c.2894T>G (p.Leu965Arg) c.655+4617T>G (n.655+4617T>G) c.2825T>G (p.Leu942Arg) c.2888T>G (p.Leu963Arg) c.2876T>G (p.Leu959Arg) | |
| 2 | g.144396582A>G | CA348704947 | ZEB2 | c.*2746T>C (n.*2746T>C) c.2120T>C (p.Leu707Pro) c.2897T>C (p.Leu966Pro) n.2866T>C c.2561T>C (p.Leu854Pro) c.2972T>C (p.Leu991Pro) c.*2614T>C (n.*2614T>C) n.2997T>C c.29T>C (p.Leu10Pro) c.428T>C (p.Leu143Pro) c.2894T>C (p.Leu965Pro) c.655+4617T>C (n.655+4617T>C) c.2825T>C (p.Leu942Pro) c.2888T>C (p.Leu963Pro) c.2876T>C (p.Leu959Pro) | |
| 2 | g.144396582A>T | CA348704953 | ZEB2 | c.*2746T>A (n.*2746T>A) c.2120T>A (p.Leu707His) c.2897T>A (p.Leu966His) n.2866T>A c.2561T>A (p.Leu854His) c.2972T>A (p.Leu991His) c.*2614T>A (n.*2614T>A) n.2997T>A c.29T>A (p.Leu10His) c.428T>A (p.Leu143His) c.2894T>A (p.Leu965His) c.655+4617T>A (n.655+4617T>A) c.2825T>A (p.Leu942His) c.2888T>A (p.Leu963His) c.2876T>A (p.Leu959His) | |
| 2 | g.144396583G>A | CA348704958 | ZEB2 | c.*2745C>T (n.*2745C>T) c.2119C>T (p.Leu707Phe) c.2896C>T (p.Leu966Phe) n.2865C>T c.2560C>T (p.Leu854Phe) c.2971C>T (p.Leu991Phe) c.*2613C>T (n.*2613C>T) n.2996C>T c.28C>T (p.Leu10Phe) c.427C>T (p.Leu143Phe) c.2893C>T (p.Leu965Phe) c.655+4616C>T (n.655+4616C>T) c.2824C>T (p.Leu942Phe) c.2887C>T (p.Leu963Phe) c.2875C>T (p.Leu959Phe) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.144396583G>C | CA348704975 | ZEB2 | c.*2745C>G (n.*2745C>G) c.2119C>G (p.Leu707Val) c.2896C>G (p.Leu966Val) n.2865C>G c.2560C>G (p.Leu854Val) c.2971C>G (p.Leu991Val) c.*2613C>G (n.*2613C>G) n.2996C>G c.28C>G (p.Leu10Val) c.427C>G (p.Leu143Val) c.2893C>G (p.Leu965Val) c.655+4616C>G (n.655+4616C>G) c.2824C>G (p.Leu942Val) c.2887C>G (p.Leu963Val) c.2875C>G (p.Leu959Val) | |
| 2 | g.144396583G= | CA1294884120 | ZEB2 | c.*2745C= (n.*2745C=) c.2119C= (p.Leu707=) c.2896C= (p.Leu966=) n.2865C= c.2560C= (p.Leu854=) c.2971C= (p.Leu991=) c.*2613C= (n.*2613C=) n.2996C= c.28C= (p.Leu10=) c.427C= (p.Leu143=) c.2893C= (p.Leu965=) c.655+4616C= (n.655+4616C=) c.2824C= (p.Leu942=) c.2887C= (p.Leu963=) c.2875C= (p.Leu959=) | |
| 2 | g.144396583G>T | CA1898175 | ZEB2 | c.*2745C>A (n.*2745C>A) c.2119C>A (p.Leu707Ile) c.2896C>A (p.Leu966Ile) n.2865C>A c.2560C>A (p.Leu854Ile) c.2971C>A (p.Leu991Ile) c.*2613C>A (n.*2613C>A) n.2996C>A c.28C>A (p.Leu10Ile) c.427C>A (p.Leu143Ile) c.2893C>A (p.Leu965Ile) c.655+4616C>A (n.655+4616C>A) c.2824C>A (p.Leu942Ile) c.2887C>A (p.Leu963Ile) c.2875C>A (p.Leu959Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.144396584C>A | CA348704985 | ZEB2 | c.*2744G>T (n.*2744G>T) c.2118G>T (p.Leu706Phe) c.2895G>T (p.Leu965Phe) n.2864G>T c.2559G>T (p.Leu853Phe) c.2970G>T (p.Leu990Phe) c.*2612G>T (n.*2612G>T) n.2995G>T c.27G>T (p.Leu9Phe) c.426G>T (p.Leu142Phe) c.2892G>T (p.Leu964Phe) c.655+4615G>T (n.655+4615G>T) c.2823G>T (p.Leu941Phe) c.2886G>T (p.Leu962Phe) c.2874G>T (p.Leu958Phe) | |
| 2 | g.144396584C= | CA1294884121 | ZEB2 | c.*2744G= (n.*2744G=) c.2118G= (p.Leu706=) c.2895G= (p.Leu965=) n.2864G= c.2559G= (p.Leu853=) c.2970G= (p.Leu990=) c.*2612G= (n.*2612G=) n.2995G= c.27G= (p.Leu9=) c.426G= (p.Leu142=) c.2892G= (p.Leu964=) c.655+4615G= (n.655+4615G=) c.2823G= (p.Leu941=) c.2886G= (p.Leu962=) c.2874G= (p.Leu958=) | |
| 2 | g.144396584C>G | CA348704990 | ZEB2 | c.*2744G>C (n.*2744G>C) c.2118G>C (p.Leu706Phe) c.2895G>C (p.Leu965Phe) n.2864G>C c.2559G>C (p.Leu853Phe) c.2970G>C (p.Leu990Phe) c.*2612G>C (n.*2612G>C) n.2995G>C c.27G>C (p.Leu9Phe) c.426G>C (p.Leu142Phe) c.2892G>C (p.Leu964Phe) c.655+4615G>C (n.655+4615G>C) c.2823G>C (p.Leu941Phe) c.2886G>C (p.Leu962Phe) c.2874G>C (p.Leu958Phe) | gnomAD v4 |
| 2 | g.144396584C>T | CA1898176 | ZEB2 | c.*2744G>A (n.*2744G>A) c.2118G>A (p.Leu706=) c.2895G>A (p.Leu965=) n.2864G>A c.2559G>A (p.Leu853=) c.2970G>A (p.Leu990=) c.*2612G>A (n.*2612G>A) n.2995G>A c.27G>A (p.Leu9=) c.426G>A (p.Leu142=) c.2892G>A (p.Leu964=) c.655+4615G>A (n.655+4615G>A) c.2823G>A (p.Leu941=) c.2886G>A (p.Leu962=) c.2874G>A (p.Leu958=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.144396585A= | CA1294884122 | ZEB2 | c.*2743T= (n.*2743T=) c.2117T= (p.Leu706=) c.2894T= (p.Leu965=) n.2863T= c.2558T= (p.Leu853=) c.2969T= (p.Leu990=) c.*2611T= (n.*2611T=) n.2994T= c.26T= (p.Leu9=) c.425T= (p.Leu142=) c.2891T= (p.Leu964=) c.655+4614T= (n.655+4614T=) c.2822T= (p.Leu941=) c.2885T= (p.Leu962=) c.2873T= (p.Leu958=) |