Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.144398429G>A | CA429445133 | ZEB2 | c.*2607C>T (n.*2607C>T) c.1981C>T (p.Leu661=) c.2758C>T (p.Leu920=) n.2727C>T c.2422C>T (p.Leu808=) c.2833C>T (p.Leu945=) c.*2475C>T (n.*2475C>T) n.2858C>T c.289C>T (p.Leu97=) c.2755C>T (p.Leu919=) c.655+2770C>T (n.655+2770C>T) c.1168-501C>T (n.1168-501C>T) c.2686C>T (p.Leu896=) c.2749C>T (p.Leu917=) c.2737C>T (p.Leu913=) | dbSNP |
2 | g.144398429G>C | CA348707098 | ZEB2 | c.*2607C>G (n.*2607C>G) c.1981C>G (p.Leu661Val) c.2758C>G (p.Leu920Val) n.2727C>G c.2422C>G (p.Leu808Val) c.2833C>G (p.Leu945Val) c.*2475C>G (n.*2475C>G) n.2858C>G c.289C>G (p.Leu97Val) c.2755C>G (p.Leu919Val) c.655+2770C>G (n.655+2770C>G) c.1168-501C>G (n.1168-501C>G) c.2686C>G (p.Leu896Val) c.2749C>G (p.Leu917Val) c.2737C>G (p.Leu913Val) | |
2 | g.144398429G= | CA1294884890 | ZEB2 | c.*2607C= (n.*2607C=) c.1981C= (p.Leu661=) c.2758C= (p.Leu920=) n.2727C= c.2422C= (p.Leu808=) c.2833C= (p.Leu945=) c.*2475C= (n.*2475C=) n.2858C= c.289C= (p.Leu97=) c.2755C= (p.Leu919=) c.655+2770C= (n.655+2770C=) c.1168-501C= (n.1168-501C=) c.2686C= (p.Leu896=) c.2749C= (p.Leu917=) c.2737C= (p.Leu913=) | |
2 | g.144398429G>T | CA348707096 | ZEB2 | c.*2607C>A (n.*2607C>A) c.1981C>A (p.Leu661Ile) c.2758C>A (p.Leu920Ile) n.2727C>A c.2422C>A (p.Leu808Ile) c.2833C>A (p.Leu945Ile) c.*2475C>A (n.*2475C>A) n.2858C>A c.289C>A (p.Leu97Ile) c.2755C>A (p.Leu919Ile) c.655+2770C>A (n.655+2770C>A) c.1168-501C>A (n.1168-501C>A) c.2686C>A (p.Leu896Ile) c.2749C>A (p.Leu917Ile) c.2737C>A (p.Leu913Ile) | |
2 | g.144398429_144398430del | CA913089125 | ZEB2 | c.*2606_*2607del (n.*2606_*2607del) c.1980_1981del (p.Leu661ThrfsTer28) c.2757_2758del (p.Leu920ThrfsTer28) n.2726_2727del c.2421_2422del (p.Leu808ThrfsTer28) c.2832_2833del (p.Leu945ThrfsTer28) c.*2474_*2475del (n.*2474_*2475del) n.2857_2858del c.288_289del (p.Leu97ThrfsTer28) c.2754_2755del (p.Leu919ThrfsTer28) c.655+2769_655+2770del (n.655+2769_655+2770del) c.1168-502_1168-501del (n.1168-502_1168-501del) c.2685_2686del (p.Leu896ThrfsTer28) c.2748_2749del (p.Leu917ThrfsTer28) c.2736_2737del (p.Leu913ThrfsTer28) | |
2 | g.144398429_144398430delinsGC | CA1294884889 | ZEB2 | c.*2606_*2607delinsGC (n.*2606_*2607delinsGC) c.1980_1981delinsGC (p.Gly660=) c.2757_2758delinsGC (p.Gly919=) n.2726_2727delinsGC c.2421_2422delinsGC (p.Gly807=) c.2832_2833delinsGC (p.Gly944=) c.*2474_*2475delinsGC (n.*2474_*2475delinsGC) n.2857_2858delinsGC c.288_289delinsGC (p.Gly96=) c.2754_2755delinsGC (p.Gly918=) c.655+2769_655+2770delinsGC (n.655+2769_655+2770delinsGC) c.1168-502_1168-501delinsGC (n.1168-502_1168-501delinsGC) c.2685_2686delinsGC (p.Gly895=) c.2748_2749delinsGC (p.Gly916=) c.2736_2737delinsGC (p.Gly912=) | |
2 | g.144398430C>A | CA429445143 | ZEB2 | c.*2606G>T (n.*2606G>T) c.1980G>T (p.Gly660=) c.2757G>T (p.Gly919=) n.2726G>T c.2421G>T (p.Gly807=) c.2832G>T (p.Gly944=) c.*2474G>T (n.*2474G>T) n.2857G>T c.288G>T (p.Gly96=) c.2754G>T (p.Gly918=) c.655+2769G>T (n.655+2769G>T) c.1168-502G>T (n.1168-502G>T) c.2685G>T (p.Gly895=) c.2748G>T (p.Gly916=) c.2736G>T (p.Gly912=) | |
2 | g.144398430C>G | CA429445140 | ZEB2 | c.*2606G>C (n.*2606G>C) c.1980G>C (p.Gly660=) c.2757G>C (p.Gly919=) n.2726G>C c.2421G>C (p.Gly807=) c.2832G>C (p.Gly944=) c.*2474G>C (n.*2474G>C) n.2857G>C c.288G>C (p.Gly96=) c.2754G>C (p.Gly918=) c.655+2769G>C (n.655+2769G>C) c.1168-502G>C (n.1168-502G>C) c.2685G>C (p.Gly895=) c.2748G>C (p.Gly916=) c.2736G>C (p.Gly912=) | |
2 | g.144398430C>T | CA429445142 | ZEB2 | c.*2606G>A (n.*2606G>A) c.1980G>A (p.Gly660=) c.2757G>A (p.Gly919=) n.2726G>A c.2421G>A (p.Gly807=) c.2832G>A (p.Gly944=) c.*2474G>A (n.*2474G>A) n.2857G>A c.288G>A (p.Gly96=) c.2754G>A (p.Gly918=) c.655+2769G>A (n.655+2769G>A) c.1168-502G>A (n.1168-502G>A) c.2685G>A (p.Gly895=) c.2748G>A (p.Gly916=) c.2736G>A (p.Gly912=) | |
2 | g.144398432del | CA658822384 | ZEB2 | c.*2606del (n.*2606del) c.1980del (p.Leu661TyrfsTer10) c.2757del (p.Leu920TyrfsTer10) n.2726del c.2421del (p.Leu808TyrfsTer10) c.2832del (p.Leu945TyrfsTer10) c.*2474del (n.*2474del) n.2857del c.288del (p.Leu97TyrfsTer10) c.2754del (p.Leu919TyrfsTer10) c.655+2769del (n.655+2769del) c.1168-502del (n.1168-502del) c.2685del (p.Leu896TyrfsTer10) c.2748del (p.Leu917TyrfsTer10) c.2736del (p.Leu913TyrfsTer10) | ClinVar dbSNP |
2 | g.144398431C>A | CA348707101 | ZEB2 | c.*2605G>T (n.*2605G>T) c.1979G>T (p.Gly660Val) c.2756G>T (p.Gly919Val) n.2725G>T c.2420G>T (p.Gly807Val) c.2831G>T (p.Gly944Val) c.*2473G>T (n.*2473G>T) n.2856G>T c.287G>T (p.Gly96Val) c.2753G>T (p.Gly918Val) c.655+2768G>T (n.655+2768G>T) c.1168-503G>T (n.1168-503G>T) c.2684G>T (p.Gly895Val) c.2747G>T (p.Gly916Val) c.2735G>T (p.Gly912Val) | |
2 | g.144398431C>G | CA348707102 | ZEB2 | c.*2605G>C (n.*2605G>C) c.1979G>C (p.Gly660Ala) c.2756G>C (p.Gly919Ala) n.2725G>C c.2420G>C (p.Gly807Ala) c.2831G>C (p.Gly944Ala) c.*2473G>C (n.*2473G>C) n.2856G>C c.287G>C (p.Gly96Ala) c.2753G>C (p.Gly918Ala) c.655+2768G>C (n.655+2768G>C) c.1168-503G>C (n.1168-503G>C) c.2684G>C (p.Gly895Ala) c.2747G>C (p.Gly916Ala) c.2735G>C (p.Gly912Ala) | |
2 | g.144398431C>T | CA348707104 | ZEB2 | c.*2605G>A (n.*2605G>A) c.1979G>A (p.Gly660Glu) c.2756G>A (p.Gly919Glu) n.2725G>A c.2420G>A (p.Gly807Glu) c.2831G>A (p.Gly944Glu) c.*2473G>A (n.*2473G>A) n.2856G>A c.287G>A (p.Gly96Glu) c.2753G>A (p.Gly918Glu) c.655+2768G>A (n.655+2768G>A) c.1168-503G>A (n.1168-503G>A) c.2684G>A (p.Gly895Glu) c.2747G>A (p.Gly916Glu) c.2735G>A (p.Gly912Glu) | gnomAD v4 |
2 | g.144398432C>A | CA348707107 | ZEB2 | c.*2604G>T (n.*2604G>T) c.1978G>T (p.Gly660Trp) c.2755G>T (p.Gly919Trp) n.2724G>T c.2419G>T (p.Gly807Trp) c.2830G>T (p.Gly944Trp) c.*2472G>T (n.*2472G>T) n.2855G>T c.286G>T (p.Gly96Trp) c.2752G>T (p.Gly918Trp) c.655+2767G>T (n.655+2767G>T) c.1168-504G>T (n.1168-504G>T) c.2683G>T (p.Gly895Trp) c.2746G>T (p.Gly916Trp) c.2734G>T (p.Gly912Trp) | |
2 | g.144398432C>G | CA348707109 | ZEB2 | c.*2604G>C (n.*2604G>C) c.1978G>C (p.Gly660Arg) c.2755G>C (p.Gly919Arg) n.2724G>C c.2419G>C (p.Gly807Arg) c.2830G>C (p.Gly944Arg) c.*2472G>C (n.*2472G>C) n.2855G>C c.286G>C (p.Gly96Arg) c.2752G>C (p.Gly918Arg) c.655+2767G>C (n.655+2767G>C) c.1168-504G>C (n.1168-504G>C) c.2683G>C (p.Gly895Arg) c.2746G>C (p.Gly916Arg) c.2734G>C (p.Gly912Arg) | |
2 | g.144398432C>T | CA348707111 | ZEB2 | c.*2604G>A (n.*2604G>A) c.1978G>A (p.Gly660Arg) c.2755G>A (p.Gly919Arg) n.2724G>A c.2419G>A (p.Gly807Arg) c.2830G>A (p.Gly944Arg) c.*2472G>A (n.*2472G>A) n.2855G>A c.286G>A (p.Gly96Arg) c.2752G>A (p.Gly918Arg) c.655+2767G>A (n.655+2767G>A) c.1168-504G>A (n.1168-504G>A) c.2683G>A (p.Gly895Arg) c.2746G>A (p.Gly916Arg) c.2734G>A (p.Gly912Arg) | |
2 | g.144398433A>C | CA429445148 | ZEB2 | c.*2603T>G (n.*2603T>G) c.1977T>G (p.Pro659=) c.2754T>G (p.Pro918=) n.2723T>G c.2418T>G (p.Pro806=) c.2829T>G (p.Pro943=) c.*2471T>G (n.*2471T>G) n.2854T>G c.285T>G (p.Pro95=) c.2751T>G (p.Pro917=) c.655+2766T>G (n.655+2766T>G) c.1168-505T>G (n.1168-505T>G) c.2682T>G (p.Pro894=) c.2745T>G (p.Pro915=) c.2733T>G (p.Pro911=) | |
2 | g.144398433A>G | CA429445149 | ZEB2 | c.*2603T>C (n.*2603T>C) c.1977T>C (p.Pro659=) c.2754T>C (p.Pro918=) n.2723T>C c.2418T>C (p.Pro806=) c.2829T>C (p.Pro943=) c.*2471T>C (n.*2471T>C) n.2854T>C c.285T>C (p.Pro95=) c.2751T>C (p.Pro917=) c.655+2766T>C (n.655+2766T>C) c.1168-505T>C (n.1168-505T>C) c.2682T>C (p.Pro894=) c.2745T>C (p.Pro915=) c.2733T>C (p.Pro911=) | |
2 | g.144398433A>T | CA429445151 | ZEB2 | c.*2603T>A (n.*2603T>A) c.1977T>A (p.Pro659=) c.2754T>A (p.Pro918=) n.2723T>A c.2418T>A (p.Pro806=) c.2829T>A (p.Pro943=) c.*2471T>A (n.*2471T>A) n.2854T>A c.285T>A (p.Pro95=) c.2751T>A (p.Pro917=) c.655+2766T>A (n.655+2766T>A) c.1168-505T>A (n.1168-505T>A) c.2682T>A (p.Pro894=) c.2745T>A (p.Pro915=) c.2733T>A (p.Pro911=) | |
2 | g.144398434G>A | CA348707114 | ZEB2 | c.*2602C>T (n.*2602C>T) c.1976C>T (p.Pro659Leu) c.2753C>T (p.Pro918Leu) n.2722C>T c.2417C>T (p.Pro806Leu) c.2828C>T (p.Pro943Leu) c.*2470C>T (n.*2470C>T) n.2853C>T c.284C>T (p.Pro95Leu) c.2750C>T (p.Pro917Leu) c.655+2765C>T (n.655+2765C>T) c.1168-506C>T (n.1168-506C>T) c.2681C>T (p.Pro894Leu) c.2744C>T (p.Pro915Leu) c.2732C>T (p.Pro911Leu) | |
2 | g.144398434G>C | CA348707116 | ZEB2 | c.*2602C>G (n.*2602C>G) c.1976C>G (p.Pro659Arg) c.2753C>G (p.Pro918Arg) n.2722C>G c.2417C>G (p.Pro806Arg) c.2828C>G (p.Pro943Arg) c.*2470C>G (n.*2470C>G) n.2853C>G c.284C>G (p.Pro95Arg) c.2750C>G (p.Pro917Arg) c.655+2765C>G (n.655+2765C>G) c.1168-506C>G (n.1168-506C>G) c.2681C>G (p.Pro894Arg) c.2744C>G (p.Pro915Arg) c.2732C>G (p.Pro911Arg) | |
2 | g.144398434G>T | CA348707118 | ZEB2 | c.*2602C>A (n.*2602C>A) c.1976C>A (p.Pro659His) c.2753C>A (p.Pro918His) n.2722C>A c.2417C>A (p.Pro806His) c.2828C>A (p.Pro943His) c.*2470C>A (n.*2470C>A) n.2853C>A c.284C>A (p.Pro95His) c.2750C>A (p.Pro917His) c.655+2765C>A (n.655+2765C>A) c.1168-506C>A (n.1168-506C>A) c.2681C>A (p.Pro894His) c.2744C>A (p.Pro915His) c.2732C>A (p.Pro911His) | gnomAD v4 |
2 | g.144398435G>A | CA348707121 | ZEB2 | c.*2601C>T (n.*2601C>T) c.1975C>T (p.Pro659Ser) c.2752C>T (p.Pro918Ser) n.2721C>T c.2416C>T (p.Pro806Ser) c.2827C>T (p.Pro943Ser) c.*2469C>T (n.*2469C>T) n.2852C>T c.283C>T (p.Pro95Ser) c.2749C>T (p.Pro917Ser) c.655+2764C>T (n.655+2764C>T) c.1168-507C>T (n.1168-507C>T) c.2680C>T (p.Pro894Ser) c.2743C>T (p.Pro915Ser) c.2731C>T (p.Pro911Ser) | ClinVar dbSNP gnomAD v4 |
2 | g.144398435G>C | CA348707123 | ZEB2 | c.*2601C>G (n.*2601C>G) c.1975C>G (p.Pro659Ala) c.2752C>G (p.Pro918Ala) n.2721C>G c.2416C>G (p.Pro806Ala) c.2827C>G (p.Pro943Ala) c.*2469C>G (n.*2469C>G) n.2852C>G c.283C>G (p.Pro95Ala) c.2749C>G (p.Pro917Ala) c.655+2764C>G (n.655+2764C>G) c.1168-507C>G (n.1168-507C>G) c.2680C>G (p.Pro894Ala) c.2743C>G (p.Pro915Ala) c.2731C>G (p.Pro911Ala) | |
2 | g.144398435G= | CA1294884891 | ZEB2 | c.*2601C= (n.*2601C=) c.1975C= (p.Pro659=) c.2752C= (p.Pro918=) n.2721C= c.2416C= (p.Pro806=) c.2827C= (p.Pro943=) c.*2469C= (n.*2469C=) n.2852C= c.283C= (p.Pro95=) c.2749C= (p.Pro917=) c.655+2764C= (n.655+2764C=) c.1168-507C= (n.1168-507C=) c.2680C= (p.Pro894=) c.2743C= (p.Pro915=) c.2731C= (p.Pro911=) | |
2 | g.144398435G>T | CA348707125 | ZEB2 | c.*2601C>A (n.*2601C>A) c.1975C>A (p.Pro659Thr) c.2752C>A (p.Pro918Thr) n.2721C>A c.2416C>A (p.Pro806Thr) c.2827C>A (p.Pro943Thr) c.*2469C>A (n.*2469C>A) n.2852C>A c.283C>A (p.Pro95Thr) c.2749C>A (p.Pro917Thr) c.655+2764C>A (n.655+2764C>A) c.1168-507C>A (n.1168-507C>A) c.2680C>A (p.Pro894Thr) c.2743C>A (p.Pro915Thr) c.2731C>A (p.Pro911Thr) | gnomAD v4 |
2 | g.144398436A>C | CA348707128 | ZEB2 | c.*2600T>G (n.*2600T>G) c.1974T>G (p.Ile658Met) c.2751T>G (p.Ile917Met) n.2720T>G c.2415T>G (p.Ile805Met) c.2826T>G (p.Ile942Met) c.*2468T>G (n.*2468T>G) n.2851T>G c.282T>G (p.Ile94Met) c.2748T>G (p.Ile916Met) c.655+2763T>G (n.655+2763T>G) c.1168-508T>G (n.1168-508T>G) c.2679T>G (p.Ile893Met) c.2742T>G (p.Ile914Met) c.2730T>G (p.Ile910Met) | |
2 | g.144398436A>G | CA429445157 | ZEB2 | c.*2600T>C (n.*2600T>C) c.1974T>C (p.Ile658=) c.2751T>C (p.Ile917=) n.2720T>C c.2415T>C (p.Ile805=) c.2826T>C (p.Ile942=) c.*2468T>C (n.*2468T>C) n.2851T>C c.282T>C (p.Ile94=) c.2748T>C (p.Ile916=) c.655+2763T>C (n.655+2763T>C) c.1168-508T>C (n.1168-508T>C) c.2679T>C (p.Ile893=) c.2742T>C (p.Ile914=) c.2730T>C (p.Ile910=) | gnomAD v4 |
2 | g.144398436A>T | CA429445158 | ZEB2 | c.*2600T>A (n.*2600T>A) c.1974T>A (p.Ile658=) c.2751T>A (p.Ile917=) n.2720T>A c.2415T>A (p.Ile805=) c.2826T>A (p.Ile942=) c.*2468T>A (n.*2468T>A) n.2851T>A c.282T>A (p.Ile94=) c.2748T>A (p.Ile916=) c.655+2763T>A (n.655+2763T>A) c.1168-508T>A (n.1168-508T>A) c.2679T>A (p.Ile893=) c.2742T>A (p.Ile914=) c.2730T>A (p.Ile910=) | |
2 | g.144398437A= | CA1294884892 | ZEB2 | c.*2599T= (n.*2599T=) c.1973T= (p.Ile658=) c.2750T= (p.Ile917=) n.2719T= c.2414T= (p.Ile805=) c.2825T= (p.Ile942=) c.*2467T= (n.*2467T=) n.2850T= c.281T= (p.Ile94=) c.2747T= (p.Ile916=) c.655+2762T= (n.655+2762T=) c.1168-509T= (n.1168-509T=) c.2678T= (p.Ile893=) c.2741T= (p.Ile914=) c.2729T= (p.Ile910=) | |
2 | g.144398437A>C | CA348707134 | ZEB2 | c.*2599T>G (n.*2599T>G) c.1973T>G (p.Ile658Ser) c.2750T>G (p.Ile917Ser) n.2719T>G c.2414T>G (p.Ile805Ser) c.2825T>G (p.Ile942Ser) c.*2467T>G (n.*2467T>G) n.2850T>G c.281T>G (p.Ile94Ser) c.2747T>G (p.Ile916Ser) c.655+2762T>G (n.655+2762T>G) c.1168-509T>G (n.1168-509T>G) c.2678T>G (p.Ile893Ser) c.2741T>G (p.Ile914Ser) c.2729T>G (p.Ile910Ser) | |
2 | g.144398437A>G | CA348707132 | ZEB2 | c.*2599T>C (n.*2599T>C) c.1973T>C (p.Ile658Thr) c.2750T>C (p.Ile917Thr) n.2719T>C c.2414T>C (p.Ile805Thr) c.2825T>C (p.Ile942Thr) c.*2467T>C (n.*2467T>C) n.2850T>C c.281T>C (p.Ile94Thr) c.2747T>C (p.Ile916Thr) c.655+2762T>C (n.655+2762T>C) c.1168-509T>C (n.1168-509T>C) c.2678T>C (p.Ile893Thr) c.2741T>C (p.Ile914Thr) c.2729T>C (p.Ile910Thr) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.144398437A>T | CA348707130 | ZEB2 | c.*2599T>A (n.*2599T>A) c.1973T>A (p.Ile658Asn) c.2750T>A (p.Ile917Asn) n.2719T>A c.2414T>A (p.Ile805Asn) c.2825T>A (p.Ile942Asn) c.*2467T>A (n.*2467T>A) n.2850T>A c.281T>A (p.Ile94Asn) c.2747T>A (p.Ile916Asn) c.655+2762T>A (n.655+2762T>A) c.1168-509T>A (n.1168-509T>A) c.2678T>A (p.Ile893Asn) c.2741T>A (p.Ile914Asn) c.2729T>A (p.Ile910Asn) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.144398438T>A | CA348707137 | ZEB2 | c.*2598A>T (n.*2598A>T) c.1972A>T (p.Ile658Phe) c.2749A>T (p.Ile917Phe) n.2718A>T c.2413A>T (p.Ile805Phe) c.2824A>T (p.Ile942Phe) c.*2466A>T (n.*2466A>T) n.2849A>T c.280A>T (p.Ile94Phe) c.2746A>T (p.Ile916Phe) c.655+2761A>T (n.655+2761A>T) c.1168-510A>T (n.1168-510A>T) c.2677A>T (p.Ile893Phe) c.2740A>T (p.Ile914Phe) c.2728A>T (p.Ile910Phe) | |
2 | g.144398438T>C | CA348707139 | ZEB2 | c.*2598A>G (n.*2598A>G) c.1972A>G (p.Ile658Val) c.2749A>G (p.Ile917Val) n.2718A>G c.2413A>G (p.Ile805Val) c.2824A>G (p.Ile942Val) c.*2466A>G (n.*2466A>G) n.2849A>G c.280A>G (p.Ile94Val) c.2746A>G (p.Ile916Val) c.655+2761A>G (n.655+2761A>G) c.1168-510A>G (n.1168-510A>G) c.2677A>G (p.Ile893Val) c.2740A>G (p.Ile914Val) c.2728A>G (p.Ile910Val) | |
2 | g.144398438T>G | CA348707141 | ZEB2 | c.*2598A>C (n.*2598A>C) c.1972A>C (p.Ile658Leu) c.2749A>C (p.Ile917Leu) n.2718A>C c.2413A>C (p.Ile805Leu) c.2824A>C (p.Ile942Leu) c.*2466A>C (n.*2466A>C) n.2849A>C c.280A>C (p.Ile94Leu) c.2746A>C (p.Ile916Leu) c.655+2761A>C (n.655+2761A>C) c.1168-510A>C (n.1168-510A>C) c.2677A>C (p.Ile893Leu) c.2740A>C (p.Ile914Leu) c.2728A>C (p.Ile910Leu) | |
2 | g.144398439A>C | CA348707145 | ZEB2 | c.*2597T>G (n.*2597T>G) c.1971T>G (p.Ser657Arg) c.2748T>G (p.Ser916Arg) n.2717T>G c.2412T>G (p.Ser804Arg) c.2823T>G (p.Ser941Arg) c.*2465T>G (n.*2465T>G) n.2848T>G c.279T>G (p.Ser93Arg) c.2745T>G (p.Ser915Arg) c.655+2760T>G (n.655+2760T>G) c.1168-511T>G (n.1168-511T>G) c.2676T>G (p.Ser892Arg) c.2739T>G (p.Ser913Arg) c.2727T>G (p.Ser909Arg) | |
2 | g.144398439A>G | CA429445167 | ZEB2 | c.*2597T>C (n.*2597T>C) c.1971T>C (p.Ser657=) c.2748T>C (p.Ser916=) n.2717T>C c.2412T>C (p.Ser804=) c.2823T>C (p.Ser941=) c.*2465T>C (n.*2465T>C) n.2848T>C c.279T>C (p.Ser93=) c.2745T>C (p.Ser915=) c.655+2760T>C (n.655+2760T>C) c.1168-511T>C (n.1168-511T>C) c.2676T>C (p.Ser892=) c.2739T>C (p.Ser913=) c.2727T>C (p.Ser909=) | |
2 | g.144398439A>T | CA348707147 | ZEB2 | c.*2597T>A (n.*2597T>A) c.1971T>A (p.Ser657Arg) c.2748T>A (p.Ser916Arg) n.2717T>A c.2412T>A (p.Ser804Arg) c.2823T>A (p.Ser941Arg) c.*2465T>A (n.*2465T>A) n.2848T>A c.279T>A (p.Ser93Arg) c.2745T>A (p.Ser915Arg) c.655+2760T>A (n.655+2760T>A) c.1168-511T>A (n.1168-511T>A) c.2676T>A (p.Ser892Arg) c.2739T>A (p.Ser913Arg) c.2727T>A (p.Ser909Arg) | |
2 | g.144398440C>A | CA348707150 | ZEB2 | c.*2596G>T (n.*2596G>T) c.1970G>T (p.Ser657Ile) c.2747G>T (p.Ser916Ile) n.2716G>T c.2411G>T (p.Ser804Ile) c.2822G>T (p.Ser941Ile) c.*2464G>T (n.*2464G>T) n.2847G>T c.278G>T (p.Ser93Ile) c.2744G>T (p.Ser915Ile) c.655+2759G>T (n.655+2759G>T) c.1168-512G>T (n.1168-512G>T) c.2675G>T (p.Ser892Ile) c.2738G>T (p.Ser913Ile) c.2726G>T (p.Ser909Ile) | |
2 | g.144398440C= | CA1294884893 | ZEB2 | c.*2596G= (n.*2596G=) c.1970G= (p.Ser657=) c.2747G= (p.Ser916=) n.2716G= c.2411G= (p.Ser804=) c.2822G= (p.Ser941=) c.*2464G= (n.*2464G=) n.2847G= c.278G= (p.Ser93=) c.2744G= (p.Ser915=) c.655+2759G= (n.655+2759G=) c.1168-512G= (n.1168-512G=) c.2675G= (p.Ser892=) c.2738G= (p.Ser913=) c.2726G= (p.Ser909=) | |
2 | g.144398440C>G | CA1898214 | ZEB2 | c.*2596G>C (n.*2596G>C) c.1970G>C (p.Ser657Thr) c.2747G>C (p.Ser916Thr) n.2716G>C c.2411G>C (p.Ser804Thr) c.2822G>C (p.Ser941Thr) c.*2464G>C (n.*2464G>C) n.2847G>C c.278G>C (p.Ser93Thr) c.2744G>C (p.Ser915Thr) c.655+2759G>C (n.655+2759G>C) c.1168-512G>C (n.1168-512G>C) c.2675G>C (p.Ser892Thr) c.2738G>C (p.Ser913Thr) c.2726G>C (p.Ser909Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.144398440C>T | CA348707151 | ZEB2 | c.*2596G>A (n.*2596G>A) c.1970G>A (p.Ser657Asn) c.2747G>A (p.Ser916Asn) n.2716G>A c.2411G>A (p.Ser804Asn) c.2822G>A (p.Ser941Asn) c.*2464G>A (n.*2464G>A) n.2847G>A c.278G>A (p.Ser93Asn) c.2744G>A (p.Ser915Asn) c.655+2759G>A (n.655+2759G>A) c.1168-512G>A (n.1168-512G>A) c.2675G>A (p.Ser892Asn) c.2738G>A (p.Ser913Asn) c.2726G>A (p.Ser909Asn) | |
2 | g.144398441T>A | CA348707152 | ZEB2 | c.*2595A>T (n.*2595A>T) c.1969A>T (p.Ser657Cys) c.2746A>T (p.Ser916Cys) n.2715A>T c.2410A>T (p.Ser804Cys) c.2821A>T (p.Ser941Cys) c.*2463A>T (n.*2463A>T) n.2846A>T c.277A>T (p.Ser93Cys) c.2743A>T (p.Ser915Cys) c.655+2758A>T (n.655+2758A>T) c.1168-513A>T (n.1168-513A>T) c.2674A>T (p.Ser892Cys) c.2737A>T (p.Ser913Cys) c.2725A>T (p.Ser909Cys) | |
2 | g.144398441T>C | CA16603802 | ZEB2 | c.*2595A>G (n.*2595A>G) c.1969A>G (p.Ser657Gly) c.2746A>G (p.Ser916Gly) n.2715A>G c.2410A>G (p.Ser804Gly) c.2821A>G (p.Ser941Gly) c.*2463A>G (n.*2463A>G) n.2846A>G c.277A>G (p.Ser93Gly) c.2743A>G (p.Ser915Gly) c.655+2758A>G (n.655+2758A>G) c.1168-513A>G (n.1168-513A>G) c.2674A>G (p.Ser892Gly) c.2737A>G (p.Ser913Gly) c.2725A>G (p.Ser909Gly) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.144398441T>G | CA348707153 | ZEB2 | c.*2595A>C (n.*2595A>C) c.1969A>C (p.Ser657Arg) c.2746A>C (p.Ser916Arg) n.2715A>C c.2410A>C (p.Ser804Arg) c.2821A>C (p.Ser941Arg) c.*2463A>C (n.*2463A>C) n.2846A>C c.277A>C (p.Ser93Arg) c.2743A>C (p.Ser915Arg) c.655+2758A>C (n.655+2758A>C) c.1168-513A>C (n.1168-513A>C) c.2674A>C (p.Ser892Arg) c.2737A>C (p.Ser913Arg) c.2725A>C (p.Ser909Arg) | gnomAD v4 |
2 | g.144398441T= | CA1294884894 | ZEB2 | c.*2595A= (n.*2595A=) c.1969A= (p.Ser657=) c.2746A= (p.Ser916=) n.2715A= c.2410A= (p.Ser804=) c.2821A= (p.Ser941=) c.*2463A= (n.*2463A=) n.2846A= c.277A= (p.Ser93=) c.2743A= (p.Ser915=) c.655+2758A= (n.655+2758A=) c.1168-513A= (n.1168-513A=) c.2674A= (p.Ser892=) c.2737A= (p.Ser913=) c.2725A= (p.Ser909=) | |
2 | g.144398442G>A | CA429445169 | ZEB2 | c.*2594C>T (n.*2594C>T) c.1968C>T (p.Thr656=) c.2745C>T (p.Thr915=) n.2714C>T c.2409C>T (p.Thr803=) c.2820C>T (p.Thr940=) c.*2462C>T (n.*2462C>T) n.2845C>T c.276C>T (p.Thr92=) c.2742C>T (p.Thr914=) c.655+2757C>T (n.655+2757C>T) c.1168-514C>T (n.1168-514C>T) c.2673C>T (p.Thr891=) c.2736C>T (p.Thr912=) c.2724C>T (p.Thr908=) | |
2 | g.144398442G>C | CA429445170 | ZEB2 | c.*2594C>G (n.*2594C>G) c.1968C>G (p.Thr656=) c.2745C>G (p.Thr915=) n.2714C>G c.2409C>G (p.Thr803=) c.2820C>G (p.Thr940=) c.*2462C>G (n.*2462C>G) n.2845C>G c.276C>G (p.Thr92=) c.2742C>G (p.Thr914=) c.655+2757C>G (n.655+2757C>G) c.1168-514C>G (n.1168-514C>G) c.2673C>G (p.Thr891=) c.2736C>G (p.Thr912=) c.2724C>G (p.Thr908=) | gnomAD v4 |
2 | g.144398442G>T | CA429445171 | ZEB2 | c.*2594C>A (n.*2594C>A) c.1968C>A (p.Thr656=) c.2745C>A (p.Thr915=) n.2714C>A c.2409C>A (p.Thr803=) c.2820C>A (p.Thr940=) c.*2462C>A (n.*2462C>A) n.2845C>A c.276C>A (p.Thr92=) c.2742C>A (p.Thr914=) c.655+2757C>A (n.655+2757C>A) c.1168-514C>A (n.1168-514C>A) c.2673C>A (p.Thr891=) c.2736C>A (p.Thr912=) c.2724C>A (p.Thr908=) | |
2 | g.144398443del | CA2573133270 | ZEB2 | c.*2594del (n.*2594del) c.1968del (p.Ser657ValfsTer14) c.2745del (p.Ser916ValfsTer14) n.2714del c.2409del (p.Ser804ValfsTer14) c.2820del (p.Ser941ValfsTer14) c.*2462del (n.*2462del) n.2845del c.276del (p.Ser93ValfsTer14) c.2742del (p.Ser915ValfsTer14) c.655+2757del (n.655+2757del) c.1168-514del (n.1168-514del) c.2673del (p.Ser892ValfsTer14) c.2736del (p.Ser913ValfsTer14) c.2724del (p.Ser909ValfsTer14) | ClinVar dbSNP |
2 | g.144398443G>A | CA348707154 | ZEB2 | c.*2593C>T (n.*2593C>T) c.1967C>T (p.Thr656Ile) c.2744C>T (p.Thr915Ile) n.2713C>T c.2408C>T (p.Thr803Ile) c.2819C>T (p.Thr940Ile) c.*2461C>T (n.*2461C>T) n.2844C>T c.275C>T (p.Thr92Ile) c.2741C>T (p.Thr914Ile) c.655+2756C>T (n.655+2756C>T) c.1168-515C>T (n.1168-515C>T) c.2672C>T (p.Thr891Ile) c.2735C>T (p.Thr912Ile) c.2723C>T (p.Thr908Ile) | |
2 | g.144398443G>C | CA348707155 | ZEB2 | c.*2593C>G (n.*2593C>G) c.1967C>G (p.Thr656Ser) c.2744C>G (p.Thr915Ser) n.2713C>G c.2408C>G (p.Thr803Ser) c.2819C>G (p.Thr940Ser) c.*2461C>G (n.*2461C>G) n.2844C>G c.275C>G (p.Thr92Ser) c.2741C>G (p.Thr914Ser) c.655+2756C>G (n.655+2756C>G) c.1168-515C>G (n.1168-515C>G) c.2672C>G (p.Thr891Ser) c.2735C>G (p.Thr912Ser) c.2723C>G (p.Thr908Ser) | |
2 | g.144398443G>T | CA348707156 | ZEB2 | c.*2593C>A (n.*2593C>A) c.1967C>A (p.Thr656Asn) c.2744C>A (p.Thr915Asn) n.2713C>A c.2408C>A (p.Thr803Asn) c.2819C>A (p.Thr940Asn) c.*2461C>A (n.*2461C>A) n.2844C>A c.275C>A (p.Thr92Asn) c.2741C>A (p.Thr914Asn) c.655+2756C>A (n.655+2756C>A) c.1168-515C>A (n.1168-515C>A) c.2672C>A (p.Thr891Asn) c.2735C>A (p.Thr912Asn) c.2723C>A (p.Thr908Asn) | gnomAD v4 COSMIC |
2 | g.144398444_144398447dup | CA2586970072 | ZEB2 | c.*2590_*2593dup (n.*2590_*2593dup) c.1964_1967dup (p.Ser657AspfsTer?) c.2741_2744dup (p.Ser916AspfsTer?) n.2710_2713dup c.2405_2408dup (p.Ser804AspfsTer?) c.2816_2819dup (p.Ser941AspfsTer?) c.*2458_*2461dup (n.*2458_*2461dup) n.2841_2844dup c.272_275dup (p.Ser93AspfsTer?) c.2738_2741dup (p.Ser915AspfsTer?) c.655+2753_655+2756dup (n.655+2753_655+2756dup) c.1168-518_1168-515dup (n.1168-518_1168-515dup) c.2669_2672dup (p.Ser892AspfsTer?) c.2732_2735dup (p.Ser913AspfsTer?) c.2720_2723dup (p.Ser909AspfsTer?) | |
2 | g.144398444T>A | CA348707158 | ZEB2 | c.*2592A>T (n.*2592A>T) c.1966A>T (p.Thr656Ser) c.2743A>T (p.Thr915Ser) n.2712A>T c.2407A>T (p.Thr803Ser) c.2818A>T (p.Thr940Ser) c.*2460A>T (n.*2460A>T) n.2843A>T c.274A>T (p.Thr92Ser) c.2740A>T (p.Thr914Ser) c.655+2755A>T (n.655+2755A>T) c.1168-516A>T (n.1168-516A>T) c.2671A>T (p.Thr891Ser) c.2734A>T (p.Thr912Ser) c.2722A>T (p.Thr908Ser) | |
2 | g.144398444T>C | CA348707159 | ZEB2 | c.*2592A>G (n.*2592A>G) c.1966A>G (p.Thr656Ala) c.2743A>G (p.Thr915Ala) n.2712A>G c.2407A>G (p.Thr803Ala) c.2818A>G (p.Thr940Ala) c.*2460A>G (n.*2460A>G) n.2843A>G c.274A>G (p.Thr92Ala) c.2740A>G (p.Thr914Ala) c.655+2755A>G (n.655+2755A>G) c.1168-516A>G (n.1168-516A>G) c.2671A>G (p.Thr891Ala) c.2734A>G (p.Thr912Ala) c.2722A>G (p.Thr908Ala) | gnomAD v4 |
2 | g.144398444T>G | CA348707157 | ZEB2 | c.*2592A>C (n.*2592A>C) c.1966A>C (p.Thr656Pro) c.2743A>C (p.Thr915Pro) n.2712A>C c.2407A>C (p.Thr803Pro) c.2818A>C (p.Thr940Pro) c.*2460A>C (n.*2460A>C) n.2843A>C c.274A>C (p.Thr92Pro) c.2740A>C (p.Thr914Pro) c.655+2755A>C (n.655+2755A>C) c.1168-516A>C (n.1168-516A>C) c.2671A>C (p.Thr891Pro) c.2734A>C (p.Thr912Pro) c.2722A>C (p.Thr908Pro) | |
2 | g.144398445C>A | CA348707160 | ZEB2 | c.*2591G>T (n.*2591G>T) c.1965G>T (p.Gln655His) c.2742G>T (p.Gln914His) n.2711G>T c.2406G>T (p.Gln802His) c.2817G>T (p.Gln939His) c.*2459G>T (n.*2459G>T) n.2842G>T c.273G>T (p.Gln91His) c.2739G>T (p.Gln913His) c.655+2754G>T (n.655+2754G>T) c.1168-517G>T (n.1168-517G>T) c.2670G>T (p.Gln890His) c.2733G>T (p.Gln911His) c.2721G>T (p.Gln907His) | |
2 | g.144398445C= | CA1294884895 | ZEB2 | c.*2591G= (n.*2591G=) c.1965G= (p.Gln655=) c.2742G= (p.Gln914=) n.2711G= c.2406G= (p.Gln802=) c.2817G= (p.Gln939=) c.*2459G= (n.*2459G=) n.2842G= c.273G= (p.Gln91=) c.2739G= (p.Gln913=) c.655+2754G= (n.655+2754G=) c.1168-517G= (n.1168-517G=) c.2670G= (p.Gln890=) c.2733G= (p.Gln911=) c.2721G= (p.Gln907=) | |
2 | g.144398445C>G | CA348707161 | ZEB2 | c.*2591G>C (n.*2591G>C) c.1965G>C (p.Gln655His) c.2742G>C (p.Gln914His) n.2711G>C c.2406G>C (p.Gln802His) c.2817G>C (p.Gln939His) c.*2459G>C (n.*2459G>C) n.2842G>C c.273G>C (p.Gln91His) c.2739G>C (p.Gln913His) c.655+2754G>C (n.655+2754G>C) c.1168-517G>C (n.1168-517G>C) c.2670G>C (p.Gln890His) c.2733G>C (p.Gln911His) c.2721G>C (p.Gln907His) | |
2 | g.144398445C>T | CA57554744 | ZEB2 | c.*2591G>A (n.*2591G>A) c.1965G>A (p.Gln655=) c.2742G>A (p.Gln914=) n.2711G>A c.2406G>A (p.Gln802=) c.2817G>A (p.Gln939=) c.*2459G>A (n.*2459G>A) n.2842G>A c.273G>A (p.Gln91=) c.2739G>A (p.Gln913=) c.655+2754G>A (n.655+2754G>A) c.1168-517G>A (n.1168-517G>A) c.2670G>A (p.Gln890=) c.2733G>A (p.Gln911=) c.2721G>A (p.Gln907=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.144398446T>A | CA348707162 | ZEB2 | c.*2590A>T (n.*2590A>T) c.1964A>T (p.Gln655Leu) c.2741A>T (p.Gln914Leu) n.2710A>T c.2405A>T (p.Gln802Leu) c.2816A>T (p.Gln939Leu) c.*2458A>T (n.*2458A>T) n.2841A>T c.272A>T (p.Gln91Leu) c.2738A>T (p.Gln913Leu) c.655+2753A>T (n.655+2753A>T) c.1168-518A>T (n.1168-518A>T) c.2669A>T (p.Gln890Leu) c.2732A>T (p.Gln911Leu) c.2720A>T (p.Gln907Leu) | |
2 | g.144398446T>C | CA348707163 | ZEB2 | c.*2590A>G (n.*2590A>G) c.1964A>G (p.Gln655Arg) c.2741A>G (p.Gln914Arg) n.2710A>G c.2405A>G (p.Gln802Arg) c.2816A>G (p.Gln939Arg) c.*2458A>G (n.*2458A>G) n.2841A>G c.272A>G (p.Gln91Arg) c.2738A>G (p.Gln913Arg) c.655+2753A>G (n.655+2753A>G) c.1168-518A>G (n.1168-518A>G) c.2669A>G (p.Gln890Arg) c.2732A>G (p.Gln911Arg) c.2720A>G (p.Gln907Arg) | |
2 | g.144398446T>G | CA348707164 | ZEB2 | c.*2590A>C (n.*2590A>C) c.1964A>C (p.Gln655Pro) c.2741A>C (p.Gln914Pro) n.2710A>C c.2405A>C (p.Gln802Pro) c.2816A>C (p.Gln939Pro) c.*2458A>C (n.*2458A>C) n.2841A>C c.272A>C (p.Gln91Pro) c.2738A>C (p.Gln913Pro) c.655+2753A>C (n.655+2753A>C) c.1168-518A>C (n.1168-518A>C) c.2669A>C (p.Gln890Pro) c.2732A>C (p.Gln911Pro) c.2720A>C (p.Gln907Pro) | |
2 | g.144398447G>A | CA57554749 | ZEB2 | c.*2589C>T (n.*2589C>T) c.1963C>T (p.Gln655Ter) c.2740C>T (p.Gln914Ter) n.2709C>T c.2404C>T (p.Gln802Ter) c.2815C>T (p.Gln939Ter) c.*2457C>T (n.*2457C>T) n.2840C>T c.271C>T (p.Gln91Ter) c.2737C>T (p.Gln913Ter) c.655+2752C>T (n.655+2752C>T) c.1168-519C>T (n.1168-519C>T) c.2668C>T (p.Gln890Ter) c.2731C>T (p.Gln911Ter) c.2719C>T (p.Gln907Ter) | dbSNP |
2 | g.144398447G>C | CA348707165 | ZEB2 | c.*2589C>G (n.*2589C>G) c.1963C>G (p.Gln655Glu) c.2740C>G (p.Gln914Glu) n.2709C>G c.2404C>G (p.Gln802Glu) c.2815C>G (p.Gln939Glu) c.*2457C>G (n.*2457C>G) n.2840C>G c.271C>G (p.Gln91Glu) c.2737C>G (p.Gln913Glu) c.655+2752C>G (n.655+2752C>G) c.1168-519C>G (n.1168-519C>G) c.2668C>G (p.Gln890Glu) c.2731C>G (p.Gln911Glu) c.2719C>G (p.Gln907Glu) | |
2 | g.144398447G= | CA1294884896 | ZEB2 | c.*2589C= (n.*2589C=) c.1963C= (p.Gln655=) c.2740C= (p.Gln914=) n.2709C= c.2404C= (p.Gln802=) c.2815C= (p.Gln939=) c.*2457C= (n.*2457C=) n.2840C= c.271C= (p.Gln91=) c.2737C= (p.Gln913=) c.655+2752C= (n.655+2752C=) c.1168-519C= (n.1168-519C=) c.2668C= (p.Gln890=) c.2731C= (p.Gln911=) c.2719C= (p.Gln907=) | |
2 | g.144398447G>T | CA348707166 | ZEB2 | c.*2589C>A (n.*2589C>A) c.1963C>A (p.Gln655Lys) c.2740C>A (p.Gln914Lys) n.2709C>A c.2404C>A (p.Gln802Lys) c.2815C>A (p.Gln939Lys) c.*2457C>A (n.*2457C>A) n.2840C>A c.271C>A (p.Gln91Lys) c.2737C>A (p.Gln913Lys) c.655+2752C>A (n.655+2752C>A) c.1168-519C>A (n.1168-519C>A) c.2668C>A (p.Gln890Lys) c.2731C>A (p.Gln911Lys) c.2719C>A (p.Gln907Lys) | ClinVar |
2 | g.144398448del | CA2586970073 | ZEB2 | c.*2589del (n.*2589del) c.1963del (p.Gln655ArgfsTer16) c.2740del (p.Gln914ArgfsTer16) n.2709del c.2404del (p.Gln802ArgfsTer16) c.2815del (p.Gln939ArgfsTer16) c.*2457del (n.*2457del) n.2840del c.271del (p.Gln91ArgfsTer16) c.2737del (p.Gln913ArgfsTer16) c.655+2752del (n.655+2752del) c.1168-519del (n.1168-519del) c.2668del (p.Gln890ArgfsTer16) c.2731del (p.Gln911ArgfsTer16) c.2719del (p.Gln907ArgfsTer16) | |
2 | g.144398448G>A | CA57554751 | ZEB2 | c.*2588C>T (n.*2588C>T) c.1962C>T (p.Val654=) c.2739C>T (p.Val913=) n.2708C>T c.2403C>T (p.Val801=) c.2814C>T (p.Val938=) c.*2456C>T (n.*2456C>T) n.2839C>T c.270C>T (p.Val90=) c.2736C>T (p.Val912=) c.655+2751C>T (n.655+2751C>T) c.1168-520C>T (n.1168-520C>T) c.2667C>T (p.Val889=) c.2730C>T (p.Val910=) c.2718C>T (p.Val906=) | ClinVar dbSNP gnomAD v4 |
2 | g.144398448G>C | CA429445179 | ZEB2 | c.*2588C>G (n.*2588C>G) c.1962C>G (p.Val654=) c.2739C>G (p.Val913=) n.2708C>G c.2403C>G (p.Val801=) c.2814C>G (p.Val938=) c.*2456C>G (n.*2456C>G) n.2839C>G c.270C>G (p.Val90=) c.2736C>G (p.Val912=) c.655+2751C>G (n.655+2751C>G) c.1168-520C>G (n.1168-520C>G) c.2667C>G (p.Val889=) c.2730C>G (p.Val910=) c.2718C>G (p.Val906=) | |
2 | g.144398448G= | CA1294884897 | ZEB2 | c.*2588C= (n.*2588C=) c.1962C= (p.Val654=) c.2739C= (p.Val913=) n.2708C= c.2403C= (p.Val801=) c.2814C= (p.Val938=) c.*2456C= (n.*2456C=) n.2839C= c.270C= (p.Val90=) c.2736C= (p.Val912=) c.655+2751C= (n.655+2751C=) c.1168-520C= (n.1168-520C=) c.2667C= (p.Val889=) c.2730C= (p.Val910=) c.2718C= (p.Val906=) | |
2 | g.144398448G>T | CA429445181 | ZEB2 | c.*2588C>A (n.*2588C>A) c.1962C>A (p.Val654=) c.2739C>A (p.Val913=) n.2708C>A c.2403C>A (p.Val801=) c.2814C>A (p.Val938=) c.*2456C>A (n.*2456C>A) n.2839C>A c.270C>A (p.Val90=) c.2736C>A (p.Val912=) c.655+2751C>A (n.655+2751C>A) c.1168-520C>A (n.1168-520C>A) c.2667C>A (p.Val889=) c.2730C>A (p.Val910=) c.2718C>A (p.Val906=) | |
2 | g.144398449A>C | CA348707167 | ZEB2 | c.*2587T>G (n.*2587T>G) c.1961T>G (p.Val654Gly) c.2738T>G (p.Val913Gly) n.2707T>G c.2402T>G (p.Val801Gly) c.2813T>G (p.Val938Gly) c.*2455T>G (n.*2455T>G) n.2838T>G c.269T>G (p.Val90Gly) c.2735T>G (p.Val912Gly) c.655+2750T>G (n.655+2750T>G) c.1168-521T>G (n.1168-521T>G) c.2666T>G (p.Val889Gly) c.2729T>G (p.Val910Gly) c.2717T>G (p.Val906Gly) | |
2 | g.144398449A>G | CA348707168 | ZEB2 | c.*2587T>C (n.*2587T>C) c.1961T>C (p.Val654Ala) c.2738T>C (p.Val913Ala) n.2707T>C c.2402T>C (p.Val801Ala) c.2813T>C (p.Val938Ala) c.*2455T>C (n.*2455T>C) n.2838T>C c.269T>C (p.Val90Ala) c.2735T>C (p.Val912Ala) c.655+2750T>C (n.655+2750T>C) c.1168-521T>C (n.1168-521T>C) c.2666T>C (p.Val889Ala) c.2729T>C (p.Val910Ala) c.2717T>C (p.Val906Ala) | |
2 | g.144398449A>T | CA348707169 | ZEB2 | c.*2587T>A (n.*2587T>A) c.1961T>A (p.Val654Asp) c.2738T>A (p.Val913Asp) n.2707T>A c.2402T>A (p.Val801Asp) c.2813T>A (p.Val938Asp) c.*2455T>A (n.*2455T>A) n.2838T>A c.269T>A (p.Val90Asp) c.2735T>A (p.Val912Asp) c.655+2750T>A (n.655+2750T>A) c.1168-521T>A (n.1168-521T>A) c.2666T>A (p.Val889Asp) c.2729T>A (p.Val910Asp) c.2717T>A (p.Val906Asp) | |
2 | g.144398450C>A | CA348707170 | ZEB2 | c.*2586G>T (n.*2586G>T) c.1960G>T (p.Val654Phe) c.2737G>T (p.Val913Phe) n.2706G>T c.2401G>T (p.Val801Phe) c.2812G>T (p.Val938Phe) c.*2454G>T (n.*2454G>T) n.2837G>T c.268G>T (p.Val90Phe) c.2734G>T (p.Val912Phe) c.655+2749G>T (n.655+2749G>T) c.1168-522G>T (n.1168-522G>T) c.2665G>T (p.Val889Phe) c.2728G>T (p.Val910Phe) c.2716G>T (p.Val906Phe) | |
2 | g.144398450C>G | CA348707171 | ZEB2 | c.*2586G>C (n.*2586G>C) c.1960G>C (p.Val654Leu) c.2737G>C (p.Val913Leu) n.2706G>C c.2401G>C (p.Val801Leu) c.2812G>C (p.Val938Leu) c.*2454G>C (n.*2454G>C) n.2837G>C c.268G>C (p.Val90Leu) c.2734G>C (p.Val912Leu) c.655+2749G>C (n.655+2749G>C) c.1168-522G>C (n.1168-522G>C) c.2665G>C (p.Val889Leu) c.2728G>C (p.Val910Leu) c.2716G>C (p.Val906Leu) | |
2 | g.144398450C>T | CA348707172 | ZEB2 | c.*2586G>A (n.*2586G>A) c.1960G>A (p.Val654Ile) c.2737G>A (p.Val913Ile) n.2706G>A c.2401G>A (p.Val801Ile) c.2812G>A (p.Val938Ile) c.*2454G>A (n.*2454G>A) n.2837G>A c.268G>A (p.Val90Ile) c.2734G>A (p.Val912Ile) c.655+2749G>A (n.655+2749G>A) c.1168-522G>A (n.1168-522G>A) c.2665G>A (p.Val889Ile) c.2728G>A (p.Val910Ile) c.2716G>A (p.Val906Ile) | |
2 | g.144398451T>A | CA429445186 | ZEB2 | c.*2585A>T (n.*2585A>T) c.1959A>T (p.Pro653=) c.2736A>T (p.Pro912=) n.2705A>T c.2400A>T (p.Pro800=) c.2811A>T (p.Pro937=) c.*2453A>T (n.*2453A>T) n.2836A>T c.267A>T (p.Pro89=) c.2733A>T (p.Pro911=) c.655+2748A>T (n.655+2748A>T) c.1168-523A>T (n.1168-523A>T) c.2664A>T (p.Pro888=) c.2727A>T (p.Pro909=) c.2715A>T (p.Pro905=) | |
2 | g.144398451T>C | CA429445187 | ZEB2 | c.*2585A>G (n.*2585A>G) c.1959A>G (p.Pro653=) c.2736A>G (p.Pro912=) n.2705A>G c.2400A>G (p.Pro800=) c.2811A>G (p.Pro937=) c.*2453A>G (n.*2453A>G) n.2836A>G c.267A>G (p.Pro89=) c.2733A>G (p.Pro911=) c.655+2748A>G (n.655+2748A>G) c.1168-523A>G (n.1168-523A>G) c.2664A>G (p.Pro888=) c.2727A>G (p.Pro909=) c.2715A>G (p.Pro905=) | |
2 | g.144398451T>G | CA429445188 | ZEB2 | c.*2585A>C (n.*2585A>C) c.1959A>C (p.Pro653=) c.2736A>C (p.Pro912=) n.2705A>C c.2400A>C (p.Pro800=) c.2811A>C (p.Pro937=) c.*2453A>C (n.*2453A>C) n.2836A>C c.267A>C (p.Pro89=) c.2733A>C (p.Pro911=) c.655+2748A>C (n.655+2748A>C) c.1168-523A>C (n.1168-523A>C) c.2664A>C (p.Pro888=) c.2727A>C (p.Pro909=) c.2715A>C (p.Pro905=) | |
2 | g.144398452G>A | CA348707173 | ZEB2 | c.*2584C>T (n.*2584C>T) c.1958C>T (p.Pro653Leu) c.2735C>T (p.Pro912Leu) n.2704C>T c.2399C>T (p.Pro800Leu) c.2810C>T (p.Pro937Leu) c.*2452C>T (n.*2452C>T) n.2835C>T c.266C>T (p.Pro89Leu) c.2732C>T (p.Pro911Leu) c.655+2747C>T (n.655+2747C>T) c.1168-524C>T (n.1168-524C>T) c.2663C>T (p.Pro888Leu) c.2726C>T (p.Pro909Leu) c.2714C>T (p.Pro905Leu) | |
2 | g.144398452G>C | CA348707175 | ZEB2 | c.*2584C>G (n.*2584C>G) c.1958C>G (p.Pro653Arg) c.2735C>G (p.Pro912Arg) n.2704C>G c.2399C>G (p.Pro800Arg) c.2810C>G (p.Pro937Arg) c.*2452C>G (n.*2452C>G) n.2835C>G c.266C>G (p.Pro89Arg) c.2732C>G (p.Pro911Arg) c.655+2747C>G (n.655+2747C>G) c.1168-524C>G (n.1168-524C>G) c.2663C>G (p.Pro888Arg) c.2726C>G (p.Pro909Arg) c.2714C>G (p.Pro905Arg) | |
2 | g.144398452G= | CA1294884898 | ZEB2 | c.*2584C= (n.*2584C=) c.1958C= (p.Pro653=) c.2735C= (p.Pro912=) n.2704C= c.2399C= (p.Pro800=) c.2810C= (p.Pro937=) c.*2452C= (n.*2452C=) n.2835C= c.266C= (p.Pro89=) c.2732C= (p.Pro911=) c.655+2747C= (n.655+2747C=) c.1168-524C= (n.1168-524C=) c.2663C= (p.Pro888=) c.2726C= (p.Pro909=) c.2714C= (p.Pro905=) | |
2 | g.144398452G>T | CA348707174 | ZEB2 | c.*2584C>A (n.*2584C>A) c.1958C>A (p.Pro653Gln) c.2735C>A (p.Pro912Gln) n.2704C>A c.2399C>A (p.Pro800Gln) c.2810C>A (p.Pro937Gln) c.*2452C>A (n.*2452C>A) n.2835C>A c.266C>A (p.Pro89Gln) c.2732C>A (p.Pro911Gln) c.655+2747C>A (n.655+2747C>A) c.1168-524C>A (n.1168-524C>A) c.2663C>A (p.Pro888Gln) c.2726C>A (p.Pro909Gln) c.2714C>A (p.Pro905Gln) | ClinVar dbSNP |
2 | g.144398453G>A | CA348707176 | ZEB2 | c.*2583C>T (n.*2583C>T) c.1957C>T (p.Pro653Ser) c.2734C>T (p.Pro912Ser) n.2703C>T c.2398C>T (p.Pro800Ser) c.2809C>T (p.Pro937Ser) c.*2451C>T (n.*2451C>T) n.2834C>T c.265C>T (p.Pro89Ser) c.2731C>T (p.Pro911Ser) c.655+2746C>T (n.655+2746C>T) c.1168-525C>T (n.1168-525C>T) c.2662C>T (p.Pro888Ser) c.2725C>T (p.Pro909Ser) c.2713C>T (p.Pro905Ser) | |
2 | g.144398453G>C | CA348707177 | ZEB2 | c.*2583C>G (n.*2583C>G) c.1957C>G (p.Pro653Ala) c.2734C>G (p.Pro912Ala) n.2703C>G c.2398C>G (p.Pro800Ala) c.2809C>G (p.Pro937Ala) c.*2451C>G (n.*2451C>G) n.2834C>G c.265C>G (p.Pro89Ala) c.2731C>G (p.Pro911Ala) c.655+2746C>G (n.655+2746C>G) c.1168-525C>G (n.1168-525C>G) c.2662C>G (p.Pro888Ala) c.2725C>G (p.Pro909Ala) c.2713C>G (p.Pro905Ala) | |
2 | g.144398453G>T | CA348707178 | ZEB2 | c.*2583C>A (n.*2583C>A) c.1957C>A (p.Pro653Thr) c.2734C>A (p.Pro912Thr) n.2703C>A c.2398C>A (p.Pro800Thr) c.2809C>A (p.Pro937Thr) c.*2451C>A (n.*2451C>A) n.2834C>A c.265C>A (p.Pro89Thr) c.2731C>A (p.Pro911Thr) c.655+2746C>A (n.655+2746C>A) c.1168-525C>A (n.1168-525C>A) c.2662C>A (p.Pro888Thr) c.2725C>A (p.Pro909Thr) c.2713C>A (p.Pro905Thr) | |
2 | g.144398454T>A | CA429445200 | ZEB2 | c.*2582A>T (n.*2582A>T) c.1956A>T (p.Pro652=) c.2733A>T (p.Pro911=) n.2702A>T c.2397A>T (p.Pro799=) c.2808A>T (p.Pro936=) c.*2450A>T (n.*2450A>T) n.2833A>T c.264A>T (p.Pro88=) c.2730A>T (p.Pro910=) c.655+2745A>T (n.655+2745A>T) c.1168-526A>T (n.1168-526A>T) c.2661A>T (p.Pro887=) c.2724A>T (p.Pro908=) c.2712A>T (p.Pro904=) | |
2 | g.144398454T>C | CA1898215 | ZEB2 | c.*2582A>G (n.*2582A>G) c.1956A>G (p.Pro652=) c.2733A>G (p.Pro911=) n.2702A>G c.2397A>G (p.Pro799=) c.2808A>G (p.Pro936=) c.*2450A>G (n.*2450A>G) n.2833A>G c.264A>G (p.Pro88=) c.2730A>G (p.Pro910=) c.655+2745A>G (n.655+2745A>G) c.1168-526A>G (n.1168-526A>G) c.2661A>G (p.Pro887=) c.2724A>G (p.Pro908=) c.2712A>G (p.Pro904=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.144398454T>G | CA429445201 | ZEB2 | c.*2582A>C (n.*2582A>C) c.1956A>C (p.Pro652=) c.2733A>C (p.Pro911=) n.2702A>C c.2397A>C (p.Pro799=) c.2808A>C (p.Pro936=) c.*2450A>C (n.*2450A>C) n.2833A>C c.264A>C (p.Pro88=) c.2730A>C (p.Pro910=) c.655+2745A>C (n.655+2745A>C) c.1168-526A>C (n.1168-526A>C) c.2661A>C (p.Pro887=) c.2724A>C (p.Pro908=) c.2712A>C (p.Pro904=) | |
2 | g.144398454T= | CA1294884899 | ZEB2 | c.*2582A= (n.*2582A=) c.1956A= (p.Pro652=) c.2733A= (p.Pro911=) n.2702A= c.2397A= (p.Pro799=) c.2808A= (p.Pro936=) c.*2450A= (n.*2450A=) n.2833A= c.264A= (p.Pro88=) c.2730A= (p.Pro910=) c.655+2745A= (n.655+2745A=) c.1168-526A= (n.1168-526A=) c.2661A= (p.Pro887=) c.2724A= (p.Pro908=) c.2712A= (p.Pro904=) | |
2 | g.144398455G>A | CA348707179 | ZEB2 | c.*2581C>T (n.*2581C>T) c.1955C>T (p.Pro652Leu) c.2732C>T (p.Pro911Leu) n.2701C>T c.2396C>T (p.Pro799Leu) c.2807C>T (p.Pro936Leu) c.*2449C>T (n.*2449C>T) n.2832C>T c.263C>T (p.Pro88Leu) c.2729C>T (p.Pro910Leu) c.655+2744C>T (n.655+2744C>T) c.1168-527C>T (n.1168-527C>T) c.2660C>T (p.Pro887Leu) c.2723C>T (p.Pro908Leu) c.2711C>T (p.Pro904Leu) | |
2 | g.144398455G>C | CA348707180 | ZEB2 | c.*2581C>G (n.*2581C>G) c.1955C>G (p.Pro652Arg) c.2732C>G (p.Pro911Arg) n.2701C>G c.2396C>G (p.Pro799Arg) c.2807C>G (p.Pro936Arg) c.*2449C>G (n.*2449C>G) n.2832C>G c.263C>G (p.Pro88Arg) c.2729C>G (p.Pro910Arg) c.655+2744C>G (n.655+2744C>G) c.1168-527C>G (n.1168-527C>G) c.2660C>G (p.Pro887Arg) c.2723C>G (p.Pro908Arg) c.2711C>G (p.Pro904Arg) | dbSNP |
2 | g.144398455G= | CA1294884900 | ZEB2 | c.*2581C= (n.*2581C=) c.1955C= (p.Pro652=) c.2732C= (p.Pro911=) n.2701C= c.2396C= (p.Pro799=) c.2807C= (p.Pro936=) c.*2449C= (n.*2449C=) n.2832C= c.263C= (p.Pro88=) c.2729C= (p.Pro910=) c.655+2744C= (n.655+2744C=) c.1168-527C= (n.1168-527C=) c.2660C= (p.Pro887=) c.2723C= (p.Pro908=) c.2711C= (p.Pro904=) | |
2 | g.144398455G>T | CA348707181 | ZEB2 | c.*2581C>A (n.*2581C>A) c.1955C>A (p.Pro652Gln) c.2732C>A (p.Pro911Gln) n.2701C>A c.2396C>A (p.Pro799Gln) c.2807C>A (p.Pro936Gln) c.*2449C>A (n.*2449C>A) n.2832C>A c.263C>A (p.Pro88Gln) c.2729C>A (p.Pro910Gln) c.655+2744C>A (n.655+2744C>A) c.1168-527C>A (n.1168-527C>A) c.2660C>A (p.Pro887Gln) c.2723C>A (p.Pro908Gln) c.2711C>A (p.Pro904Gln) | |
2 | g.144398456G>A | CA348707182 | ZEB2 | c.*2580C>T (n.*2580C>T) c.1954C>T (p.Pro652Ser) c.2731C>T (p.Pro911Ser) n.2700C>T c.2395C>T (p.Pro799Ser) c.2806C>T (p.Pro936Ser) c.*2448C>T (n.*2448C>T) n.2831C>T c.262C>T (p.Pro88Ser) c.2728C>T (p.Pro910Ser) c.655+2743C>T (n.655+2743C>T) c.1168-528C>T (n.1168-528C>T) c.2659C>T (p.Pro887Ser) c.2722C>T (p.Pro908Ser) c.2710C>T (p.Pro904Ser) | |
2 | g.144398456G>C | CA348707183 | ZEB2 | c.*2580C>G (n.*2580C>G) c.1954C>G (p.Pro652Ala) c.2731C>G (p.Pro911Ala) n.2700C>G c.2395C>G (p.Pro799Ala) c.2806C>G (p.Pro936Ala) c.*2448C>G (n.*2448C>G) n.2831C>G c.262C>G (p.Pro88Ala) c.2728C>G (p.Pro910Ala) c.655+2743C>G (n.655+2743C>G) c.1168-528C>G (n.1168-528C>G) c.2659C>G (p.Pro887Ala) c.2722C>G (p.Pro908Ala) c.2710C>G (p.Pro904Ala) | |
2 | g.144398456G= | CA1294884901 | ZEB2 | c.*2580C= (n.*2580C=) c.1954C= (p.Pro652=) c.2731C= (p.Pro911=) n.2700C= c.2395C= (p.Pro799=) c.2806C= (p.Pro936=) c.*2448C= (n.*2448C=) n.2831C= c.262C= (p.Pro88=) c.2728C= (p.Pro910=) c.655+2743C= (n.655+2743C=) c.1168-528C= (n.1168-528C=) c.2659C= (p.Pro887=) c.2722C= (p.Pro908=) c.2710C= (p.Pro904=) | |
2 | g.144398456G>T | CA348707184 | ZEB2 | c.*2580C>A (n.*2580C>A) c.1954C>A (p.Pro652Thr) c.2731C>A (p.Pro911Thr) n.2700C>A c.2395C>A (p.Pro799Thr) c.2806C>A (p.Pro936Thr) c.*2448C>A (n.*2448C>A) n.2831C>A c.262C>A (p.Pro88Thr) c.2728C>A (p.Pro910Thr) c.655+2743C>A (n.655+2743C>A) c.1168-528C>A (n.1168-528C>A) c.2659C>A (p.Pro887Thr) c.2722C>A (p.Pro908Thr) c.2710C>A (p.Pro904Thr) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.144398457C>A | CA348707186 | ZEB2 | c.*2579G>T (n.*2579G>T) c.1953G>T (p.Met651Ile) c.2730G>T (p.Met910Ile) n.2699G>T c.2394G>T (p.Met798Ile) c.2805G>T (p.Met935Ile) c.*2447G>T (n.*2447G>T) n.2830G>T c.261G>T (p.Met87Ile) c.2727G>T (p.Met909Ile) c.655+2742G>T (n.655+2742G>T) c.1168-529G>T (n.1168-529G>T) c.2658G>T (p.Met886Ile) c.2721G>T (p.Met907Ile) c.2709G>T (p.Met903Ile) | |
2 | g.144398457C>G | CA348707187 | ZEB2 | c.*2579G>C (n.*2579G>C) c.1953G>C (p.Met651Ile) c.2730G>C (p.Met910Ile) n.2699G>C c.2394G>C (p.Met798Ile) c.2805G>C (p.Met935Ile) c.*2447G>C (n.*2447G>C) n.2830G>C c.261G>C (p.Met87Ile) c.2727G>C (p.Met909Ile) c.655+2742G>C (n.655+2742G>C) c.1168-529G>C (n.1168-529G>C) c.2658G>C (p.Met886Ile) c.2721G>C (p.Met907Ile) c.2709G>C (p.Met903Ile) | |
2 | g.144398457C>T | CA348707185 | ZEB2 | c.*2579G>A (n.*2579G>A) c.1953G>A (p.Met651Ile) c.2730G>A (p.Met910Ile) n.2699G>A c.2394G>A (p.Met798Ile) c.2805G>A (p.Met935Ile) c.*2447G>A (n.*2447G>A) n.2830G>A c.261G>A (p.Met87Ile) c.2727G>A (p.Met909Ile) c.655+2742G>A (n.655+2742G>A) c.1168-529G>A (n.1168-529G>A) c.2658G>A (p.Met886Ile) c.2721G>A (p.Met907Ile) c.2709G>A (p.Met903Ile) | ClinVar |
2 | g.144398458A= | CA1294884902 | ZEB2 | c.*2578T= (n.*2578T=) c.1952T= (p.Met651=) c.2729T= (p.Met910=) n.2698T= c.2393T= (p.Met798=) c.2804T= (p.Met935=) c.*2446T= (n.*2446T=) n.2829T= c.260T= (p.Met87=) c.2726T= (p.Met909=) c.655+2741T= (n.655+2741T=) c.1168-530T= (n.1168-530T=) c.2657T= (p.Met886=) c.2720T= (p.Met907=) c.2708T= (p.Met903=) | |
2 | g.144398458A>C | CA348707188 | ZEB2 | c.*2578T>G (n.*2578T>G) c.1952T>G (p.Met651Arg) c.2729T>G (p.Met910Arg) n.2698T>G c.2393T>G (p.Met798Arg) c.2804T>G (p.Met935Arg) c.*2446T>G (n.*2446T>G) n.2829T>G c.260T>G (p.Met87Arg) c.2726T>G (p.Met909Arg) c.655+2741T>G (n.655+2741T>G) c.1168-530T>G (n.1168-530T>G) c.2657T>G (p.Met886Arg) c.2720T>G (p.Met907Arg) c.2708T>G (p.Met903Arg) | |
2 | g.144398458A>G | CA297615 | ZEB2 | c.*2578T>C (n.*2578T>C) c.1952T>C (p.Met651Thr) c.2729T>C (p.Met910Thr) n.2698T>C c.2393T>C (p.Met798Thr) c.2804T>C (p.Met935Thr) c.*2446T>C (n.*2446T>C) n.2829T>C c.260T>C (p.Met87Thr) c.2726T>C (p.Met909Thr) c.655+2741T>C (n.655+2741T>C) c.1168-530T>C (n.1168-530T>C) c.2657T>C (p.Met886Thr) c.2720T>C (p.Met907Thr) c.2708T>C (p.Met903Thr) | ClinVar dbSNP |
2 | g.144398458A>T | CA348707189 | ZEB2 | c.*2578T>A (n.*2578T>A) c.1952T>A (p.Met651Lys) c.2729T>A (p.Met910Lys) n.2698T>A c.2393T>A (p.Met798Lys) c.2804T>A (p.Met935Lys) c.*2446T>A (n.*2446T>A) n.2829T>A c.260T>A (p.Met87Lys) c.2726T>A (p.Met909Lys) c.655+2741T>A (n.655+2741T>A) c.1168-530T>A (n.1168-530T>A) c.2657T>A (p.Met886Lys) c.2720T>A (p.Met907Lys) c.2708T>A (p.Met903Lys) | |
2 | g.144398459T>A | CA348707190 | ZEB2 | c.*2577A>T (n.*2577A>T) c.1951A>T (p.Met651Leu) c.2728A>T (p.Met910Leu) n.2697A>T c.2392A>T (p.Met798Leu) c.2803A>T (p.Met935Leu) c.*2445A>T (n.*2445A>T) n.2828A>T c.259A>T (p.Met87Leu) c.2725A>T (p.Met909Leu) c.655+2740A>T (n.655+2740A>T) c.1168-531A>T (n.1168-531A>T) c.2656A>T (p.Met886Leu) c.2719A>T (p.Met907Leu) c.2707A>T (p.Met903Leu) | gnomAD v4 |
2 | g.144398459T>C | CA1898216 | ZEB2 | c.*2577A>G (n.*2577A>G) c.1951A>G (p.Met651Val) c.2728A>G (p.Met910Val) n.2697A>G c.2392A>G (p.Met798Val) c.2803A>G (p.Met935Val) c.*2445A>G (n.*2445A>G) n.2828A>G c.259A>G (p.Met87Val) c.2725A>G (p.Met909Val) c.655+2740A>G (n.655+2740A>G) c.1168-531A>G (n.1168-531A>G) c.2656A>G (p.Met886Val) c.2719A>G (p.Met907Val) c.2707A>G (p.Met903Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.144398459T>G | CA348707191 | ZEB2 | c.*2577A>C (n.*2577A>C) c.1951A>C (p.Met651Leu) c.2728A>C (p.Met910Leu) n.2697A>C c.2392A>C (p.Met798Leu) c.2803A>C (p.Met935Leu) c.*2445A>C (n.*2445A>C) n.2828A>C c.259A>C (p.Met87Leu) c.2725A>C (p.Met909Leu) c.655+2740A>C (n.655+2740A>C) c.1168-531A>C (n.1168-531A>C) c.2656A>C (p.Met886Leu) c.2719A>C (p.Met907Leu) c.2707A>C (p.Met903Leu) | |
2 | g.144398459T= | CA1294884903 | ZEB2 | c.*2577A= (n.*2577A=) c.1951A= (p.Met651=) c.2728A= (p.Met910=) n.2697A= c.2392A= (p.Met798=) c.2803A= (p.Met935=) c.*2445A= (n.*2445A=) n.2828A= c.259A= (p.Met87=) c.2725A= (p.Met909=) c.655+2740A= (n.655+2740A=) c.1168-531A= (n.1168-531A=) c.2656A= (p.Met886=) c.2719A= (p.Met907=) c.2707A= (p.Met903=) | |
2 | g.144398460G>A | CA429445215 | ZEB2 | c.*2576C>T (n.*2576C>T) c.1950C>T (p.Phe650=) c.2727C>T (p.Phe909=) n.2696C>T c.2391C>T (p.Phe797=) c.2802C>T (p.Phe934=) c.*2444C>T (n.*2444C>T) n.2827C>T c.258C>T (p.Phe86=) c.2724C>T (p.Phe908=) c.655+2739C>T (n.655+2739C>T) c.1168-532C>T (n.1168-532C>T) c.2655C>T (p.Phe885=) c.2718C>T (p.Phe906=) c.2706C>T (p.Phe902=) | COSMIC |
2 | g.144398460G>C | CA348707193 | ZEB2 | c.*2576C>G (n.*2576C>G) c.1950C>G (p.Phe650Leu) c.2727C>G (p.Phe909Leu) n.2696C>G c.2391C>G (p.Phe797Leu) c.2802C>G (p.Phe934Leu) c.*2444C>G (n.*2444C>G) n.2827C>G c.258C>G (p.Phe86Leu) c.2724C>G (p.Phe908Leu) c.655+2739C>G (n.655+2739C>G) c.1168-532C>G (n.1168-532C>G) c.2655C>G (p.Phe885Leu) c.2718C>G (p.Phe906Leu) c.2706C>G (p.Phe902Leu) | |
2 | g.144398460G>T | CA348707192 | ZEB2 | c.*2576C>A (n.*2576C>A) c.1950C>A (p.Phe650Leu) c.2727C>A (p.Phe909Leu) n.2696C>A c.2391C>A (p.Phe797Leu) c.2802C>A (p.Phe934Leu) c.*2444C>A (n.*2444C>A) n.2827C>A c.258C>A (p.Phe86Leu) c.2724C>A (p.Phe908Leu) c.655+2739C>A (n.655+2739C>A) c.1168-532C>A (n.1168-532C>A) c.2655C>A (p.Phe885Leu) c.2718C>A (p.Phe906Leu) c.2706C>A (p.Phe902Leu) | |
2 | g.144398461A>C | CA348707197 | ZEB2 | c.*2575T>G (n.*2575T>G) c.1949T>G (p.Phe650Cys) c.2726T>G (p.Phe909Cys) n.2695T>G c.2390T>G (p.Phe797Cys) c.2801T>G (p.Phe934Cys) c.*2443T>G (n.*2443T>G) n.2826T>G c.257T>G (p.Phe86Cys) c.2723T>G (p.Phe908Cys) c.655+2738T>G (n.655+2738T>G) c.1168-533T>G (n.1168-533T>G) c.2654T>G (p.Phe885Cys) c.2717T>G (p.Phe906Cys) c.2705T>G (p.Phe902Cys) | |
2 | g.144398461A>G | CA348707198 | ZEB2 | c.*2575T>C (n.*2575T>C) c.1949T>C (p.Phe650Ser) c.2726T>C (p.Phe909Ser) n.2695T>C c.2390T>C (p.Phe797Ser) c.2801T>C (p.Phe934Ser) c.*2443T>C (n.*2443T>C) n.2826T>C c.257T>C (p.Phe86Ser) c.2723T>C (p.Phe908Ser) c.655+2738T>C (n.655+2738T>C) c.1168-533T>C (n.1168-533T>C) c.2654T>C (p.Phe885Ser) c.2717T>C (p.Phe906Ser) c.2705T>C (p.Phe902Ser) | |
2 | g.144398461A>T | CA348707200 | ZEB2 | c.*2575T>A (n.*2575T>A) c.1949T>A (p.Phe650Tyr) c.2726T>A (p.Phe909Tyr) n.2695T>A c.2390T>A (p.Phe797Tyr) c.2801T>A (p.Phe934Tyr) c.*2443T>A (n.*2443T>A) n.2826T>A c.257T>A (p.Phe86Tyr) c.2723T>A (p.Phe908Tyr) c.655+2738T>A (n.655+2738T>A) c.1168-533T>A (n.1168-533T>A) c.2654T>A (p.Phe885Tyr) c.2717T>A (p.Phe906Tyr) c.2705T>A (p.Phe902Tyr) | |
2 | g.144398462A>C | CA348707203 | ZEB2 | c.*2574T>G (n.*2574T>G) c.1948T>G (p.Phe650Val) c.2725T>G (p.Phe909Val) n.2694T>G c.2389T>G (p.Phe797Val) c.2800T>G (p.Phe934Val) c.*2442T>G (n.*2442T>G) n.2825T>G c.256T>G (p.Phe86Val) c.2722T>G (p.Phe908Val) c.655+2737T>G (n.655+2737T>G) c.1168-534T>G (n.1168-534T>G) c.2653T>G (p.Phe885Val) c.2716T>G (p.Phe906Val) c.2704T>G (p.Phe902Val) | |
2 | g.144398462A>G | CA348707204 | ZEB2 | c.*2574T>C (n.*2574T>C) c.1948T>C (p.Phe650Leu) c.2725T>C (p.Phe909Leu) n.2694T>C c.2389T>C (p.Phe797Leu) c.2800T>C (p.Phe934Leu) c.*2442T>C (n.*2442T>C) n.2825T>C c.256T>C (p.Phe86Leu) c.2722T>C (p.Phe908Leu) c.655+2737T>C (n.655+2737T>C) c.1168-534T>C (n.1168-534T>C) c.2653T>C (p.Phe885Leu) c.2716T>C (p.Phe906Leu) c.2704T>C (p.Phe902Leu) | |
2 | g.144398462A>T | CA348707206 | ZEB2 | c.*2574T>A (n.*2574T>A) c.1948T>A (p.Phe650Ile) c.2725T>A (p.Phe909Ile) n.2694T>A c.2389T>A (p.Phe797Ile) c.2800T>A (p.Phe934Ile) c.*2442T>A (n.*2442T>A) n.2825T>A c.256T>A (p.Phe86Ile) c.2722T>A (p.Phe908Ile) c.655+2737T>A (n.655+2737T>A) c.1168-534T>A (n.1168-534T>A) c.2653T>A (p.Phe885Ile) c.2716T>A (p.Phe906Ile) c.2704T>A (p.Phe902Ile) | |
2 | g.144398463A>C | CA429445223 | ZEB2 | c.*2573T>G (n.*2573T>G) c.1947T>G (p.Thr649=) c.2724T>G (p.Thr908=) n.2693T>G c.2388T>G (p.Thr796=) c.2799T>G (p.Thr933=) c.*2441T>G (n.*2441T>G) n.2824T>G c.255T>G (p.Thr85=) c.2721T>G (p.Thr907=) c.655+2736T>G (n.655+2736T>G) c.1168-535T>G (n.1168-535T>G) c.2652T>G (p.Thr884=) c.2715T>G (p.Thr905=) c.2703T>G (p.Thr901=) | |
2 | g.144398463A>G | CA429445225 | ZEB2 | c.*2573T>C (n.*2573T>C) c.1947T>C (p.Thr649=) c.2724T>C (p.Thr908=) n.2693T>C c.2388T>C (p.Thr796=) c.2799T>C (p.Thr933=) c.*2441T>C (n.*2441T>C) n.2824T>C c.255T>C (p.Thr85=) c.2721T>C (p.Thr907=) c.655+2736T>C (n.655+2736T>C) c.1168-535T>C (n.1168-535T>C) c.2652T>C (p.Thr884=) c.2715T>C (p.Thr905=) c.2703T>C (p.Thr901=) | |
2 | g.144398463A>T | CA429445224 | ZEB2 | c.*2573T>A (n.*2573T>A) c.1947T>A (p.Thr649=) c.2724T>A (p.Thr908=) n.2693T>A c.2388T>A (p.Thr796=) c.2799T>A (p.Thr933=) c.*2441T>A (n.*2441T>A) n.2824T>A c.255T>A (p.Thr85=) c.2721T>A (p.Thr907=) c.655+2736T>A (n.655+2736T>A) c.1168-535T>A (n.1168-535T>A) c.2652T>A (p.Thr884=) c.2715T>A (p.Thr905=) c.2703T>A (p.Thr901=) | |
2 | g.144398464G>A | CA348707210 | ZEB2 | c.*2572C>T (n.*2572C>T) c.1946C>T (p.Thr649Ile) c.2723C>T (p.Thr908Ile) n.2692C>T c.2387C>T (p.Thr796Ile) c.2798C>T (p.Thr933Ile) c.*2440C>T (n.*2440C>T) n.2823C>T c.254C>T (p.Thr85Ile) c.2720C>T (p.Thr907Ile) c.655+2735C>T (n.655+2735C>T) c.1168-536C>T (n.1168-536C>T) c.2651C>T (p.Thr884Ile) c.2714C>T (p.Thr905Ile) c.2702C>T (p.Thr901Ile) | gnomAD v4 |
2 | g.144398464G>C | CA348707214 | ZEB2 | c.*2572C>G (n.*2572C>G) c.1946C>G (p.Thr649Ser) c.2723C>G (p.Thr908Ser) n.2692C>G c.2387C>G (p.Thr796Ser) c.2798C>G (p.Thr933Ser) c.*2440C>G (n.*2440C>G) n.2823C>G c.254C>G (p.Thr85Ser) c.2720C>G (p.Thr907Ser) c.655+2735C>G (n.655+2735C>G) c.1168-536C>G (n.1168-536C>G) c.2651C>G (p.Thr884Ser) c.2714C>G (p.Thr905Ser) c.2702C>G (p.Thr901Ser) | |
2 | g.144398464G>T | CA348707212 | ZEB2 | c.*2572C>A (n.*2572C>A) c.1946C>A (p.Thr649Asn) c.2723C>A (p.Thr908Asn) n.2692C>A c.2387C>A (p.Thr796Asn) c.2798C>A (p.Thr933Asn) c.*2440C>A (n.*2440C>A) n.2823C>A c.254C>A (p.Thr85Asn) c.2720C>A (p.Thr907Asn) c.655+2735C>A (n.655+2735C>A) c.1168-536C>A (n.1168-536C>A) c.2651C>A (p.Thr884Asn) c.2714C>A (p.Thr905Asn) c.2702C>A (p.Thr901Asn) | |
2 | g.144398465T>A | CA348707218 | ZEB2 | c.*2571A>T (n.*2571A>T) c.1945A>T (p.Thr649Ser) c.2722A>T (p.Thr908Ser) n.2691A>T c.2386A>T (p.Thr796Ser) c.2797A>T (p.Thr933Ser) c.*2439A>T (n.*2439A>T) n.2822A>T c.253A>T (p.Thr85Ser) c.2719A>T (p.Thr907Ser) c.655+2734A>T (n.655+2734A>T) c.1168-537A>T (n.1168-537A>T) c.2650A>T (p.Thr884Ser) c.2713A>T (p.Thr905Ser) c.2701A>T (p.Thr901Ser) | |
2 | g.144398465T>C | CA348707219 | ZEB2 | c.*2571A>G (n.*2571A>G) c.1945A>G (p.Thr649Ala) c.2722A>G (p.Thr908Ala) n.2691A>G c.2386A>G (p.Thr796Ala) c.2797A>G (p.Thr933Ala) c.*2439A>G (n.*2439A>G) n.2822A>G c.253A>G (p.Thr85Ala) c.2719A>G (p.Thr907Ala) c.655+2734A>G (n.655+2734A>G) c.1168-537A>G (n.1168-537A>G) c.2650A>G (p.Thr884Ala) c.2713A>G (p.Thr905Ala) c.2701A>G (p.Thr901Ala) | |
2 | g.144398465T>G | CA348707221 | ZEB2 | c.*2571A>C (n.*2571A>C) c.1945A>C (p.Thr649Pro) c.2722A>C (p.Thr908Pro) n.2691A>C c.2386A>C (p.Thr796Pro) c.2797A>C (p.Thr933Pro) c.*2439A>C (n.*2439A>C) n.2822A>C c.253A>C (p.Thr85Pro) c.2719A>C (p.Thr907Pro) c.655+2734A>C (n.655+2734A>C) c.1168-537A>C (n.1168-537A>C) c.2650A>C (p.Thr884Pro) c.2713A>C (p.Thr905Pro) c.2701A>C (p.Thr901Pro) | |
2 | g.144398466A>C | CA429445231 | ZEB2 | c.*2570T>G (n.*2570T>G) c.1944T>G (p.Ala648=) c.2721T>G (p.Ala907=) n.2690T>G c.2385T>G (p.Ala795=) c.2796T>G (p.Ala932=) c.*2438T>G (n.*2438T>G) n.2821T>G c.252T>G (p.Ala84=) c.2718T>G (p.Ala906=) c.655+2733T>G (n.655+2733T>G) c.1168-538T>G (n.1168-538T>G) c.2649T>G (p.Ala883=) c.2712T>G (p.Ala904=) c.2700T>G (p.Ala900=) | |
2 | g.144398466A>G | CA429445232 | ZEB2 | c.*2570T>C (n.*2570T>C) c.1944T>C (p.Ala648=) c.2721T>C (p.Ala907=) n.2690T>C c.2385T>C (p.Ala795=) c.2796T>C (p.Ala932=) c.*2438T>C (n.*2438T>C) n.2821T>C c.252T>C (p.Ala84=) c.2718T>C (p.Ala906=) c.655+2733T>C (n.655+2733T>C) c.1168-538T>C (n.1168-538T>C) c.2649T>C (p.Ala883=) c.2712T>C (p.Ala904=) c.2700T>C (p.Ala900=) | |
2 | g.144398466A>T | CA429445233 | ZEB2 | c.*2570T>A (n.*2570T>A) c.1944T>A (p.Ala648=) c.2721T>A (p.Ala907=) n.2690T>A c.2385T>A (p.Ala795=) c.2796T>A (p.Ala932=) c.*2438T>A (n.*2438T>A) n.2821T>A c.252T>A (p.Ala84=) c.2718T>A (p.Ala906=) c.655+2733T>A (n.655+2733T>A) c.1168-538T>A (n.1168-538T>A) c.2649T>A (p.Ala883=) c.2712T>A (p.Ala904=) c.2700T>A (p.Ala900=) | |
2 | g.144398467G>A | CA348707224 | ZEB2 | c.*2569C>T (n.*2569C>T) c.1943C>T (p.Ala648Val) c.2720C>T (p.Ala907Val) n.2689C>T c.2384C>T (p.Ala795Val) c.2795C>T (p.Ala932Val) c.*2437C>T (n.*2437C>T) n.2820C>T c.251C>T (p.Ala84Val) c.2717C>T (p.Ala906Val) c.655+2732C>T (n.655+2732C>T) c.1168-539C>T (n.1168-539C>T) c.2648C>T (p.Ala883Val) c.2711C>T (p.Ala904Val) c.2699C>T (p.Ala900Val) | |
2 | g.144398467G>C | CA348707226 | ZEB2 | c.*2569C>G (n.*2569C>G) c.1943C>G (p.Ala648Gly) c.2720C>G (p.Ala907Gly) n.2689C>G c.2384C>G (p.Ala795Gly) c.2795C>G (p.Ala932Gly) c.*2437C>G (n.*2437C>G) n.2820C>G c.251C>G (p.Ala84Gly) c.2717C>G (p.Ala906Gly) c.655+2732C>G (n.655+2732C>G) c.1168-539C>G (n.1168-539C>G) c.2648C>G (p.Ala883Gly) c.2711C>G (p.Ala904Gly) c.2699C>G (p.Ala900Gly) | |
2 | g.144398467G>T | CA348707228 | ZEB2 | c.*2569C>A (n.*2569C>A) c.1943C>A (p.Ala648Asp) c.2720C>A (p.Ala907Asp) n.2689C>A c.2384C>A (p.Ala795Asp) c.2795C>A (p.Ala932Asp) c.*2437C>A (n.*2437C>A) n.2820C>A c.251C>A (p.Ala84Asp) c.2717C>A (p.Ala906Asp) c.655+2732C>A (n.655+2732C>A) c.1168-539C>A (n.1168-539C>A) c.2648C>A (p.Ala883Asp) c.2711C>A (p.Ala904Asp) c.2699C>A (p.Ala900Asp) | |
2 | g.144398468C>A | CA348707231 | ZEB2 | c.*2568G>T (n.*2568G>T) c.1942G>T (p.Ala648Ser) c.2719G>T (p.Ala907Ser) n.2688G>T c.2383G>T (p.Ala795Ser) c.2794G>T (p.Ala932Ser) c.*2436G>T (n.*2436G>T) n.2819G>T c.250G>T (p.Ala84Ser) c.2716G>T (p.Ala906Ser) c.655+2731G>T (n.655+2731G>T) c.1168-540G>T (n.1168-540G>T) c.2647G>T (p.Ala883Ser) c.2710G>T (p.Ala904Ser) c.2698G>T (p.Ala900Ser) | |
2 | g.144398468C= | CA1294884904 | ZEB2 | c.*2568G= (n.*2568G=) c.1942G= (p.Ala648=) c.2719G= (p.Ala907=) n.2688G= c.2383G= (p.Ala795=) c.2794G= (p.Ala932=) c.*2436G= (n.*2436G=) n.2819G= c.250G= (p.Ala84=) c.2716G= (p.Ala906=) c.655+2731G= (n.655+2731G=) c.1168-540G= (n.1168-540G=) c.2647G= (p.Ala883=) c.2710G= (p.Ala904=) c.2698G= (p.Ala900=) | |
2 | g.144398468C>G | CA348707233 | ZEB2 | c.*2568G>C (n.*2568G>C) c.1942G>C (p.Ala648Pro) c.2719G>C (p.Ala907Pro) n.2688G>C c.2383G>C (p.Ala795Pro) c.2794G>C (p.Ala932Pro) c.*2436G>C (n.*2436G>C) n.2819G>C c.250G>C (p.Ala84Pro) c.2716G>C (p.Ala906Pro) c.655+2731G>C (n.655+2731G>C) c.1168-540G>C (n.1168-540G>C) c.2647G>C (p.Ala883Pro) c.2710G>C (p.Ala904Pro) c.2698G>C (p.Ala900Pro) | |
2 | g.144398468C>T | CA348707235 | ZEB2 | c.*2568G>A (n.*2568G>A) c.1942G>A (p.Ala648Thr) c.2719G>A (p.Ala907Thr) n.2688G>A c.2383G>A (p.Ala795Thr) c.2794G>A (p.Ala932Thr) c.*2436G>A (n.*2436G>A) n.2819G>A c.250G>A (p.Ala84Thr) c.2716G>A (p.Ala906Thr) c.655+2731G>A (n.655+2731G>A) c.1168-540G>A (n.1168-540G>A) c.2647G>A (p.Ala883Thr) c.2710G>A (p.Ala904Thr) c.2698G>A (p.Ala900Thr) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.144398469del | CA2580063839 | ZEB2 | c.*2567del (n.*2567del) c.1941del (p.Ala648LeufsTer23) c.2718del (p.Ala907LeufsTer23) n.2687del c.2382del (p.Ala795LeufsTer23) c.2793del (p.Ala932LeufsTer23) c.*2435del (n.*2435del) n.2818del c.249del (p.Ala84LeufsTer23) c.2715del (p.Ala906LeufsTer23) c.655+2730del (n.655+2730del) c.1168-541del (n.1168-541del) c.2646del (p.Ala883LeufsTer23) c.2709del (p.Ala904LeufsTer23) c.2697del (p.Ala900LeufsTer23) | ClinVar |
2 | g.144398469A>C | CA429444966 | ZEB2 | c.*2567T>G (n.*2567T>G) c.1941T>G (p.Pro647=) c.2718T>G (p.Pro906=) n.2687T>G c.2382T>G (p.Pro794=) c.2793T>G (p.Pro931=) c.*2435T>G (n.*2435T>G) n.2818T>G c.249T>G (p.Pro83=) c.2715T>G (p.Pro905=) c.655+2730T>G (n.655+2730T>G) c.1168-541T>G (n.1168-541T>G) c.2646T>G (p.Pro882=) c.2709T>G (p.Pro903=) c.2697T>G (p.Pro899=) | |
2 | g.144398469A>G | CA429444967 | ZEB2 | c.*2567T>C (n.*2567T>C) c.1941T>C (p.Pro647=) c.2718T>C (p.Pro906=) n.2687T>C c.2382T>C (p.Pro794=) c.2793T>C (p.Pro931=) c.*2435T>C (n.*2435T>C) n.2818T>C c.249T>C (p.Pro83=) c.2715T>C (p.Pro905=) c.655+2730T>C (n.655+2730T>C) c.1168-541T>C (n.1168-541T>C) c.2646T>C (p.Pro882=) c.2709T>C (p.Pro903=) c.2697T>C (p.Pro899=) | |
2 | g.144398469A>T | CA429444968 | ZEB2 | c.*2567T>A (n.*2567T>A) c.1941T>A (p.Pro647=) c.2718T>A (p.Pro906=) n.2687T>A c.2382T>A (p.Pro794=) c.2793T>A (p.Pro931=) c.*2435T>A (n.*2435T>A) n.2818T>A c.249T>A (p.Pro83=) c.2715T>A (p.Pro905=) c.655+2730T>A (n.655+2730T>A) c.1168-541T>A (n.1168-541T>A) c.2646T>A (p.Pro882=) c.2709T>A (p.Pro903=) c.2697T>A (p.Pro899=) | |
2 | g.144398470G>A | CA348707238 | ZEB2 | c.*2566C>T (n.*2566C>T) c.1940C>T (p.Pro647Leu) c.2717C>T (p.Pro906Leu) n.2686C>T c.2381C>T (p.Pro794Leu) c.2792C>T (p.Pro931Leu) c.*2434C>T (n.*2434C>T) n.2817C>T c.248C>T (p.Pro83Leu) c.2714C>T (p.Pro905Leu) c.655+2729C>T (n.655+2729C>T) c.1168-542C>T (n.1168-542C>T) c.2645C>T (p.Pro882Leu) c.2708C>T (p.Pro903Leu) c.2696C>T (p.Pro899Leu) | |
2 | g.144398470G>C | CA348707240 | ZEB2 | c.*2566C>G (n.*2566C>G) c.1940C>G (p.Pro647Arg) c.2717C>G (p.Pro906Arg) n.2686C>G c.2381C>G (p.Pro794Arg) c.2792C>G (p.Pro931Arg) c.*2434C>G (n.*2434C>G) n.2817C>G c.248C>G (p.Pro83Arg) c.2714C>G (p.Pro905Arg) c.655+2729C>G (n.655+2729C>G) c.1168-542C>G (n.1168-542C>G) c.2645C>G (p.Pro882Arg) c.2708C>G (p.Pro903Arg) c.2696C>G (p.Pro899Arg) | |
2 | g.144398470G>T | CA348707242 | ZEB2 | c.*2566C>A (n.*2566C>A) c.1940C>A (p.Pro647His) c.2717C>A (p.Pro906His) n.2686C>A c.2381C>A (p.Pro794His) c.2792C>A (p.Pro931His) c.*2434C>A (n.*2434C>A) n.2817C>A c.248C>A (p.Pro83His) c.2714C>A (p.Pro905His) c.655+2729C>A (n.655+2729C>A) c.1168-542C>A (n.1168-542C>A) c.2645C>A (p.Pro882His) c.2708C>A (p.Pro903His) c.2696C>A (p.Pro899His) | |
2 | g.144398474del | CA2499214970 | ZEB2 | c.*2566del (n.*2566del) c.1940del (p.Pro647LeufsTer24) c.2717del (p.Pro906LeufsTer24) n.2686del c.2381del (p.Pro794LeufsTer24) c.2792del (p.Pro931LeufsTer24) c.*2434del (n.*2434del) n.2817del c.248del (p.Pro83LeufsTer24) c.2714del (p.Pro905LeufsTer24) c.655+2729del (n.655+2729del) c.1168-542del (n.1168-542del) c.2645del (p.Pro882LeufsTer24) c.2708del (p.Pro903LeufsTer24) c.2696del (p.Pro899LeufsTer24) | ClinVar dbSNP |
2 | g.144398471G>A | CA1898217 | ZEB2 | c.*2565C>T (n.*2565C>T) c.1939C>T (p.Pro647Ser) c.2716C>T (p.Pro906Ser) n.2685C>T c.2380C>T (p.Pro794Ser) c.2791C>T (p.Pro931Ser) c.*2433C>T (n.*2433C>T) n.2816C>T c.247C>T (p.Pro83Ser) c.2713C>T (p.Pro905Ser) c.655+2728C>T (n.655+2728C>T) c.1168-543C>T (n.1168-543C>T) c.2644C>T (p.Pro882Ser) c.2707C>T (p.Pro903Ser) c.2695C>T (p.Pro899Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.144398471G>C | CA348707248 | ZEB2 | c.*2565C>G (n.*2565C>G) c.1939C>G (p.Pro647Ala) c.2716C>G (p.Pro906Ala) n.2685C>G c.2380C>G (p.Pro794Ala) c.2791C>G (p.Pro931Ala) c.*2433C>G (n.*2433C>G) n.2816C>G c.247C>G (p.Pro83Ala) c.2713C>G (p.Pro905Ala) c.655+2728C>G (n.655+2728C>G) c.1168-543C>G (n.1168-543C>G) c.2644C>G (p.Pro882Ala) c.2707C>G (p.Pro903Ala) c.2695C>G (p.Pro899Ala) | |
2 | g.144398471G= | CA1294884905 | ZEB2 | c.*2565C= (n.*2565C=) c.1939C= (p.Pro647=) c.2716C= (p.Pro906=) n.2685C= c.2380C= (p.Pro794=) c.2791C= (p.Pro931=) c.*2433C= (n.*2433C=) n.2816C= c.247C= (p.Pro83=) c.2713C= (p.Pro905=) c.655+2728C= (n.655+2728C=) c.1168-543C= (n.1168-543C=) c.2644C= (p.Pro882=) c.2707C= (p.Pro903=) c.2695C= (p.Pro899=) | |
2 | g.144398471G>T | CA348707246 | ZEB2 | c.*2565C>A (n.*2565C>A) c.1939C>A (p.Pro647Thr) c.2716C>A (p.Pro906Thr) n.2685C>A c.2380C>A (p.Pro794Thr) c.2791C>A (p.Pro931Thr) c.*2433C>A (n.*2433C>A) n.2816C>A c.247C>A (p.Pro83Thr) c.2713C>A (p.Pro905Thr) c.655+2728C>A (n.655+2728C>A) c.1168-543C>A (n.1168-543C>A) c.2644C>A (p.Pro882Thr) c.2707C>A (p.Pro903Thr) c.2695C>A (p.Pro899Thr) | |
2 | g.144398472G>A | CA429444974 | ZEB2 | c.*2564C>T (n.*2564C>T) c.1938C>T (p.Pro646=) c.2715C>T (p.Pro905=) n.2684C>T c.2379C>T (p.Pro793=) c.2790C>T (p.Pro930=) c.*2432C>T (n.*2432C>T) n.2815C>T c.246C>T (p.Pro82=) c.2712C>T (p.Pro904=) c.655+2727C>T (n.655+2727C>T) c.1168-544C>T (n.1168-544C>T) c.2643C>T (p.Pro881=) c.2706C>T (p.Pro902=) c.2694C>T (p.Pro898=) | |
2 | g.144398472G>C | CA429444975 | ZEB2 | c.*2564C>G (n.*2564C>G) c.1938C>G (p.Pro646=) c.2715C>G (p.Pro905=) n.2684C>G c.2379C>G (p.Pro793=) c.2790C>G (p.Pro930=) c.*2432C>G (n.*2432C>G) n.2815C>G c.246C>G (p.Pro82=) c.2712C>G (p.Pro904=) c.655+2727C>G (n.655+2727C>G) c.1168-544C>G (n.1168-544C>G) c.2643C>G (p.Pro881=) c.2706C>G (p.Pro902=) c.2694C>G (p.Pro898=) | |
2 | g.144398472G>T | CA429444976 | ZEB2 | c.*2564C>A (n.*2564C>A) c.1938C>A (p.Pro646=) c.2715C>A (p.Pro905=) n.2684C>A c.2379C>A (p.Pro793=) c.2790C>A (p.Pro930=) c.*2432C>A (n.*2432C>A) n.2815C>A c.246C>A (p.Pro82=) c.2712C>A (p.Pro904=) c.655+2727C>A (n.655+2727C>A) c.1168-544C>A (n.1168-544C>A) c.2643C>A (p.Pro881=) c.2706C>A (p.Pro902=) c.2694C>A (p.Pro898=) | |
2 | g.144398473G>A | CA348707250 | ZEB2 | c.*2563C>T (n.*2563C>T) c.1937C>T (p.Pro646Leu) c.2714C>T (p.Pro905Leu) n.2683C>T c.2378C>T (p.Pro793Leu) c.2789C>T (p.Pro930Leu) c.*2431C>T (n.*2431C>T) n.2814C>T c.245C>T (p.Pro82Leu) c.2711C>T (p.Pro904Leu) c.655+2726C>T (n.655+2726C>T) c.1168-545C>T (n.1168-545C>T) c.2642C>T (p.Pro881Leu) c.2705C>T (p.Pro902Leu) c.2693C>T (p.Pro898Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.144398473G>C | CA348707254 | ZEB2 | c.*2563C>G (n.*2563C>G) c.1937C>G (p.Pro646Arg) c.2714C>G (p.Pro905Arg) n.2683C>G c.2378C>G (p.Pro793Arg) c.2789C>G (p.Pro930Arg) c.*2431C>G (n.*2431C>G) n.2814C>G c.245C>G (p.Pro82Arg) c.2711C>G (p.Pro904Arg) c.655+2726C>G (n.655+2726C>G) c.1168-545C>G (n.1168-545C>G) c.2642C>G (p.Pro881Arg) c.2705C>G (p.Pro902Arg) c.2693C>G (p.Pro898Arg) | |
2 | g.144398473G= | CA1294884906 | ZEB2 | c.*2563C= (n.*2563C=) c.1937C= (p.Pro646=) c.2714C= (p.Pro905=) n.2683C= c.2378C= (p.Pro793=) c.2789C= (p.Pro930=) c.*2431C= (n.*2431C=) n.2814C= c.245C= (p.Pro82=) c.2711C= (p.Pro904=) c.655+2726C= (n.655+2726C=) c.1168-545C= (n.1168-545C=) c.2642C= (p.Pro881=) c.2705C= (p.Pro902=) c.2693C= (p.Pro898=) | |
2 | g.144398473G>T | CA348707252 | ZEB2 | c.*2563C>A (n.*2563C>A) c.1937C>A (p.Pro646His) c.2714C>A (p.Pro905His) n.2683C>A c.2378C>A (p.Pro793His) c.2789C>A (p.Pro930His) c.*2431C>A (n.*2431C>A) n.2814C>A c.245C>A (p.Pro82His) c.2711C>A (p.Pro904His) c.655+2726C>A (n.655+2726C>A) c.1168-545C>A (n.1168-545C>A) c.2642C>A (p.Pro881His) c.2705C>A (p.Pro902His) c.2693C>A (p.Pro898His) | |
2 | g.144398474G>A | CA1898218 | ZEB2 | c.*2562C>T (n.*2562C>T) c.1936C>T (p.Pro646Ser) c.2713C>T (p.Pro905Ser) n.2682C>T c.2377C>T (p.Pro793Ser) c.2788C>T (p.Pro930Ser) c.*2430C>T (n.*2430C>T) n.2813C>T c.244C>T (p.Pro82Ser) c.2710C>T (p.Pro904Ser) c.655+2725C>T (n.655+2725C>T) c.1168-546C>T (n.1168-546C>T) c.2641C>T (p.Pro881Ser) c.2704C>T (p.Pro902Ser) c.2692C>T (p.Pro898Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.144398474G>C | CA348707258 | ZEB2 | c.*2562C>G (n.*2562C>G) c.1936C>G (p.Pro646Ala) c.2713C>G (p.Pro905Ala) n.2682C>G c.2377C>G (p.Pro793Ala) c.2788C>G (p.Pro930Ala) c.*2430C>G (n.*2430C>G) n.2813C>G c.244C>G (p.Pro82Ala) c.2710C>G (p.Pro904Ala) c.655+2725C>G (n.655+2725C>G) c.1168-546C>G (n.1168-546C>G) c.2641C>G (p.Pro881Ala) c.2704C>G (p.Pro902Ala) c.2692C>G (p.Pro898Ala) | dbSNP |
2 | g.144398474G= | CA1294884907 | ZEB2 | c.*2562C= (n.*2562C=) c.1936C= (p.Pro646=) c.2713C= (p.Pro905=) n.2682C= c.2377C= (p.Pro793=) c.2788C= (p.Pro930=) c.*2430C= (n.*2430C=) n.2813C= c.244C= (p.Pro82=) c.2710C= (p.Pro904=) c.655+2725C= (n.655+2725C=) c.1168-546C= (n.1168-546C=) c.2641C= (p.Pro881=) c.2704C= (p.Pro902=) c.2692C= (p.Pro898=) | |
2 | g.144398474G>T | CA348707260 | ZEB2 | c.*2562C>A (n.*2562C>A) c.1936C>A (p.Pro646Thr) c.2713C>A (p.Pro905Thr) n.2682C>A c.2377C>A (p.Pro793Thr) c.2788C>A (p.Pro930Thr) c.*2430C>A (n.*2430C>A) n.2813C>A c.244C>A (p.Pro82Thr) c.2710C>A (p.Pro904Thr) c.655+2725C>A (n.655+2725C>A) c.1168-546C>A (n.1168-546C>A) c.2641C>A (p.Pro881Thr) c.2704C>A (p.Pro902Thr) c.2692C>A (p.Pro898Thr) | |
2 | g.144398475A= | CA1294884908 | ZEB2 | c.*2561T= (n.*2561T=) c.1935T= (p.Phe645=) c.2712T= (p.Phe904=) n.2681T= c.2376T= (p.Phe792=) c.2787T= (p.Phe929=) c.*2429T= (n.*2429T=) n.2812T= c.243T= (p.Phe81=) c.2709T= (p.Phe903=) c.655+2724T= (n.655+2724T=) c.1168-547T= (n.1168-547T=) c.2640T= (p.Phe880=) c.2703T= (p.Phe901=) c.2691T= (p.Phe897=) | |
2 | g.144398475A>C | CA348707263 | ZEB2 | c.*2561T>G (n.*2561T>G) c.1935T>G (p.Phe645Leu) c.2712T>G (p.Phe904Leu) n.2681T>G c.2376T>G (p.Phe792Leu) c.2787T>G (p.Phe929Leu) c.*2429T>G (n.*2429T>G) n.2812T>G c.243T>G (p.Phe81Leu) c.2709T>G (p.Phe903Leu) c.655+2724T>G (n.655+2724T>G) c.1168-547T>G (n.1168-547T>G) c.2640T>G (p.Phe880Leu) c.2703T>G (p.Phe901Leu) c.2691T>G (p.Phe897Leu) | |
2 | g.144398475A>G | CA429444978 | ZEB2 | c.*2561T>C (n.*2561T>C) c.1935T>C (p.Phe645=) c.2712T>C (p.Phe904=) n.2681T>C c.2376T>C (p.Phe792=) c.2787T>C (p.Phe929=) c.*2429T>C (n.*2429T>C) n.2812T>C c.243T>C (p.Phe81=) c.2709T>C (p.Phe903=) c.655+2724T>C (n.655+2724T>C) c.1168-547T>C (n.1168-547T>C) c.2640T>C (p.Phe880=) c.2703T>C (p.Phe901=) c.2691T>C (p.Phe897=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.144398475A>T | CA348707264 | ZEB2 | c.*2561T>A (n.*2561T>A) c.1935T>A (p.Phe645Leu) c.2712T>A (p.Phe904Leu) n.2681T>A c.2376T>A (p.Phe792Leu) c.2787T>A (p.Phe929Leu) c.*2429T>A (n.*2429T>A) n.2812T>A c.243T>A (p.Phe81Leu) c.2709T>A (p.Phe903Leu) c.655+2724T>A (n.655+2724T>A) c.1168-547T>A (n.1168-547T>A) c.2640T>A (p.Phe880Leu) c.2703T>A (p.Phe901Leu) c.2691T>A (p.Phe897Leu) | |
2 | g.144398477del | CA2586970074 | ZEB2 | c.*2561del (n.*2561del) c.1935del (p.Pro647LeufsTer24) c.2712del (p.Pro906LeufsTer24) n.2681del c.2376del (p.Pro794LeufsTer24) c.2787del (p.Pro931LeufsTer24) c.*2429del (n.*2429del) n.2812del c.243del (p.Pro83LeufsTer24) c.2709del (p.Pro905LeufsTer24) c.655+2724del (n.655+2724del) c.1168-547del (n.1168-547del) c.2640del (p.Pro882LeufsTer24) c.2703del (p.Pro903LeufsTer24) c.2691del (p.Pro899LeufsTer24) | |
2 | g.144398476A>C | CA348707269 | ZEB2 | c.*2560T>G (n.*2560T>G) c.1934T>G (p.Phe645Cys) c.2711T>G (p.Phe904Cys) n.2680T>G c.2375T>G (p.Phe792Cys) c.2786T>G (p.Phe929Cys) c.*2428T>G (n.*2428T>G) n.2811T>G c.242T>G (p.Phe81Cys) c.2708T>G (p.Phe903Cys) c.655+2723T>G (n.655+2723T>G) c.1168-548T>G (n.1168-548T>G) c.2639T>G (p.Phe880Cys) c.2702T>G (p.Phe901Cys) c.2690T>G (p.Phe897Cys) | |
2 | g.144398476A>G | CA348707267 | ZEB2 | c.*2560T>C (n.*2560T>C) c.1934T>C (p.Phe645Ser) c.2711T>C (p.Phe904Ser) n.2680T>C c.2375T>C (p.Phe792Ser) c.2786T>C (p.Phe929Ser) c.*2428T>C (n.*2428T>C) n.2811T>C c.242T>C (p.Phe81Ser) c.2708T>C (p.Phe903Ser) c.655+2723T>C (n.655+2723T>C) c.1168-548T>C (n.1168-548T>C) c.2639T>C (p.Phe880Ser) c.2702T>C (p.Phe901Ser) c.2690T>C (p.Phe897Ser) | |
2 | g.144398476A>T | CA348707265 | ZEB2 | c.*2560T>A (n.*2560T>A) c.1934T>A (p.Phe645Tyr) c.2711T>A (p.Phe904Tyr) n.2680T>A c.2375T>A (p.Phe792Tyr) c.2786T>A (p.Phe929Tyr) c.*2428T>A (n.*2428T>A) n.2811T>A c.242T>A (p.Phe81Tyr) c.2708T>A (p.Phe903Tyr) c.655+2723T>A (n.655+2723T>A) c.1168-548T>A (n.1168-548T>A) c.2639T>A (p.Phe880Tyr) c.2702T>A (p.Phe901Tyr) c.2690T>A (p.Phe897Tyr) | |
2 | g.144398476_144398477insCA | CA2517145042 | ZEB2 | c.*2560_*2561insGT (n.*2560_*2561insGT) c.1934_1935insGT (p.Phe645LeufsTer27) c.2711_2712insGT (p.Phe904LeufsTer27) n.2680_2681insGT c.2375_2376insGT (p.Phe792LeufsTer27) c.2786_2787insGT (p.Phe929LeufsTer27) c.*2428_*2429insGT (n.*2428_*2429insGT) n.2811_2812insGT c.242_243insGT (p.Phe81LeufsTer27) c.2708_2709insGT (p.Phe903LeufsTer27) c.655+2723_655+2724insGT (n.655+2723_655+2724insGT) c.1168-548_1168-547insGT (n.1168-548_1168-547insGT) c.2639_2640insGT (p.Phe880LeufsTer27) c.2702_2703insGT (p.Phe901LeufsTer27) c.2690_2691insGT (p.Phe897LeufsTer27) | |
2 | g.144398477A= | CA1294884909 | ZEB2 | c.*2559T= (n.*2559T=) c.1933T= (p.Phe645=) c.2710T= (p.Phe904=) n.2679T= c.2374T= (p.Phe792=) c.2785T= (p.Phe929=) c.*2427T= (n.*2427T=) n.2810T= c.241T= (p.Phe81=) c.2707T= (p.Phe903=) c.655+2722T= (n.655+2722T=) c.1168-549T= (n.1168-549T=) c.2638T= (p.Phe880=) c.2701T= (p.Phe901=) c.2689T= (p.Phe897=) | |
2 | g.144398477A>C | CA348707272 | ZEB2 | c.*2559T>G (n.*2559T>G) c.1933T>G (p.Phe645Val) c.2710T>G (p.Phe904Val) n.2679T>G c.2374T>G (p.Phe792Val) c.2785T>G (p.Phe929Val) c.*2427T>G (n.*2427T>G) n.2810T>G c.241T>G (p.Phe81Val) c.2707T>G (p.Phe903Val) c.655+2722T>G (n.655+2722T>G) c.1168-549T>G (n.1168-549T>G) c.2638T>G (p.Phe880Val) c.2701T>G (p.Phe901Val) c.2689T>G (p.Phe897Val) | |
2 | g.144398477A>G | CA348707274 | ZEB2 | c.*2559T>C (n.*2559T>C) c.1933T>C (p.Phe645Leu) c.2710T>C (p.Phe904Leu) n.2679T>C c.2374T>C (p.Phe792Leu) c.2785T>C (p.Phe929Leu) c.*2427T>C (n.*2427T>C) n.2810T>C c.241T>C (p.Phe81Leu) c.2707T>C (p.Phe903Leu) c.655+2722T>C (n.655+2722T>C) c.1168-549T>C (n.1168-549T>C) c.2638T>C (p.Phe880Leu) c.2701T>C (p.Phe901Leu) c.2689T>C (p.Phe897Leu) | |
2 | g.144398477A>T | CA348707276 | ZEB2 | c.*2559T>A (n.*2559T>A) c.1933T>A (p.Phe645Ile) c.2710T>A (p.Phe904Ile) n.2679T>A c.2374T>A (p.Phe792Ile) c.2785T>A (p.Phe929Ile) c.*2427T>A (n.*2427T>A) n.2810T>A c.241T>A (p.Phe81Ile) c.2707T>A (p.Phe903Ile) c.655+2722T>A (n.655+2722T>A) c.1168-549T>A (n.1168-549T>A) c.2638T>A (p.Phe880Ile) c.2701T>A (p.Phe901Ile) c.2689T>A (p.Phe897Ile) | |
2 | g.144398477_144398478insCAAGGATT | CA1294884910 | ZEB2 | c.*2558_*2559insAATCCTTG (n.*2558_*2559insAATCCTTG) c.1932_1933insAATCCTTG (p.Phe645AsnfsTer29) c.2709_2710insAATCCTTG (p.Phe904AsnfsTer29) n.2678_2679insAATCCTTG c.2373_2374insAATCCTTG (p.Phe792AsnfsTer29) c.2784_2785insAATCCTTG (p.Phe929AsnfsTer29) c.*2426_*2427insAATCCTTG (n.*2426_*2427insAATCCTTG) n.2809_2810insAATCCTTG c.240_241insAATCCTTG (p.Phe81AsnfsTer29) c.2706_2707insAATCCTTG (p.Phe903AsnfsTer29) c.655+2721_655+2722insAATCCTTG (n.655+2721_655+2722insAATCCTTG) c.1168-550_1168-549insAATCCTTG (n.1168-550_1168-549insAATCCTTG) c.2637_2638insAATCCTTG (p.Phe880AsnfsTer29) c.2700_2701insAATCCTTG (p.Phe901AsnfsTer29) c.2688_2689insAATCCTTG (p.Phe897AsnfsTer29) | dbSNP |
2 | g.144398478T>A | CA429444981 | ZEB2 | c.*2558A>T (n.*2558A>T) c.1932A>T (p.Ala644=) c.2709A>T (p.Ala903=) n.2678A>T c.2373A>T (p.Ala791=) c.2784A>T (p.Ala928=) c.*2426A>T (n.*2426A>T) n.2809A>T c.240A>T (p.Ala80=) c.2706A>T (p.Ala902=) c.655+2721A>T (n.655+2721A>T) c.1168-550A>T (n.1168-550A>T) c.2637A>T (p.Ala879=) c.2700A>T (p.Ala900=) c.2688A>T (p.Ala896=) | |
2 | g.144398478T>C | CA429444983 | ZEB2 | c.*2558A>G (n.*2558A>G) c.1932A>G (p.Ala644=) c.2709A>G (p.Ala903=) n.2678A>G c.2373A>G (p.Ala791=) c.2784A>G (p.Ala928=) c.*2426A>G (n.*2426A>G) n.2809A>G c.240A>G (p.Ala80=) c.2706A>G (p.Ala902=) c.655+2721A>G (n.655+2721A>G) c.1168-550A>G (n.1168-550A>G) c.2637A>G (p.Ala879=) c.2700A>G (p.Ala900=) c.2688A>G (p.Ala896=) | gnomAD v4 |
2 | g.144398478T>G | CA429444982 | ZEB2 | c.*2558A>C (n.*2558A>C) c.1932A>C (p.Ala644=) c.2709A>C (p.Ala903=) n.2678A>C c.2373A>C (p.Ala791=) c.2784A>C (p.Ala928=) c.*2426A>C (n.*2426A>C) n.2809A>C c.240A>C (p.Ala80=) c.2706A>C (p.Ala902=) c.655+2721A>C (n.655+2721A>C) c.1168-550A>C (n.1168-550A>C) c.2637A>C (p.Ala879=) c.2700A>C (p.Ala900=) c.2688A>C (p.Ala896=) | |
2 | g.144398479G>A | CA57554776 | ZEB2 | c.*2557C>T (n.*2557C>T) c.1931C>T (p.Ala644Val) c.2708C>T (p.Ala903Val) n.2677C>T c.2372C>T (p.Ala791Val) c.2783C>T (p.Ala928Val) c.*2425C>T (n.*2425C>T) n.2808C>T c.239C>T (p.Ala80Val) c.2705C>T (p.Ala902Val) c.655+2720C>T (n.655+2720C>T) c.1168-551C>T (n.1168-551C>T) c.2636C>T (p.Ala879Val) c.2699C>T (p.Ala900Val) c.2687C>T (p.Ala896Val) | dbSNP |
2 | g.144398479G>C | CA348707281 | ZEB2 | c.*2557C>G (n.*2557C>G) c.1931C>G (p.Ala644Gly) c.2708C>G (p.Ala903Gly) n.2677C>G c.2372C>G (p.Ala791Gly) c.2783C>G (p.Ala928Gly) c.*2425C>G (n.*2425C>G) n.2808C>G c.239C>G (p.Ala80Gly) c.2705C>G (p.Ala902Gly) c.655+2720C>G (n.655+2720C>G) c.1168-551C>G (n.1168-551C>G) c.2636C>G (p.Ala879Gly) c.2699C>G (p.Ala900Gly) c.2687C>G (p.Ala896Gly) | |
2 | g.144398479G= | CA1294884911 | ZEB2 | c.*2557C= (n.*2557C=) c.1931C= (p.Ala644=) c.2708C= (p.Ala903=) n.2677C= c.2372C= (p.Ala791=) c.2783C= (p.Ala928=) c.*2425C= (n.*2425C=) n.2808C= c.239C= (p.Ala80=) c.2705C= (p.Ala902=) c.655+2720C= (n.655+2720C=) c.1168-551C= (n.1168-551C=) c.2636C= (p.Ala879=) c.2699C= (p.Ala900=) c.2687C= (p.Ala896=) | |
2 | g.144398479G>T | CA348707283 | ZEB2 | c.*2557C>A (n.*2557C>A) c.1931C>A (p.Ala644Glu) c.2708C>A (p.Ala903Glu) n.2677C>A c.2372C>A (p.Ala791Glu) c.2783C>A (p.Ala928Glu) c.*2425C>A (n.*2425C>A) n.2808C>A c.239C>A (p.Ala80Glu) c.2705C>A (p.Ala902Glu) c.655+2720C>A (n.655+2720C>A) c.1168-551C>A (n.1168-551C>A) c.2636C>A (p.Ala879Glu) c.2699C>A (p.Ala900Glu) c.2687C>A (p.Ala896Glu) | |
2 | g.144398480C>A | CA297613 | ZEB2 | c.*2556G>T (n.*2556G>T) c.1930G>T (p.Ala644Ser) c.2707G>T (p.Ala903Ser) n.2676G>T c.2371G>T (p.Ala791Ser) c.2782G>T (p.Ala928Ser) c.*2424G>T (n.*2424G>T) n.2807G>T c.238G>T (p.Ala80Ser) c.2704G>T (p.Ala902Ser) c.655+2719G>T (n.655+2719G>T) c.1168-552G>T (n.1168-552G>T) c.2635G>T (p.Ala879Ser) c.2698G>T (p.Ala900Ser) c.2686G>T (p.Ala896Ser) | ClinVar dbSNP gnomAD v4 |
2 | g.144398480C= | CA1294884912 | ZEB2 | c.*2556G= (n.*2556G=) c.1930G= (p.Ala644=) c.2707G= (p.Ala903=) n.2676G= c.2371G= (p.Ala791=) c.2782G= (p.Ala928=) c.*2424G= (n.*2424G=) n.2807G= c.238G= (p.Ala80=) c.2704G= (p.Ala902=) c.655+2719G= (n.655+2719G=) c.1168-552G= (n.1168-552G=) c.2635G= (p.Ala879=) c.2698G= (p.Ala900=) c.2686G= (p.Ala896=) | |
2 | g.144398480C>G | CA348707290 | ZEB2 | c.*2556G>C (n.*2556G>C) c.1930G>C (p.Ala644Pro) c.2707G>C (p.Ala903Pro) n.2676G>C c.2371G>C (p.Ala791Pro) c.2782G>C (p.Ala928Pro) c.*2424G>C (n.*2424G>C) n.2807G>C c.238G>C (p.Ala80Pro) c.2704G>C (p.Ala902Pro) c.655+2719G>C (n.655+2719G>C) c.1168-552G>C (n.1168-552G>C) c.2635G>C (p.Ala879Pro) c.2698G>C (p.Ala900Pro) c.2686G>C (p.Ala896Pro) | |
2 | g.144398480C>T | CA348707288 | ZEB2 | c.*2556G>A (n.*2556G>A) c.1930G>A (p.Ala644Thr) c.2707G>A (p.Ala903Thr) n.2676G>A c.2371G>A (p.Ala791Thr) c.2782G>A (p.Ala928Thr) c.*2424G>A (n.*2424G>A) n.2807G>A c.238G>A (p.Ala80Thr) c.2704G>A (p.Ala902Thr) c.655+2719G>A (n.655+2719G>A) c.1168-552G>A (n.1168-552G>A) c.2635G>A (p.Ala879Thr) c.2698G>A (p.Ala900Thr) c.2686G>A (p.Ala896Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
2 | g.144398481G>A | CA1898219 | ZEB2 | c.*2555C>T (n.*2555C>T) c.1929C>T (p.Ser643=) c.2706C>T (p.Ser902=) n.2675C>T c.2370C>T (p.Ser790=) c.2781C>T (p.Ser927=) c.*2423C>T (n.*2423C>T) n.2806C>T c.237C>T (p.Ser79=) c.2703C>T (p.Ser901=) c.655+2718C>T (n.655+2718C>T) c.1168-553C>T (n.1168-553C>T) c.2634C>T (p.Ser878=) c.2697C>T (p.Ser899=) c.2685C>T (p.Ser895=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.144398481G>C | CA348707295 | ZEB2 | c.*2555C>G (n.*2555C>G) c.1929C>G (p.Ser643Arg) c.2706C>G (p.Ser902Arg) n.2675C>G c.2370C>G (p.Ser790Arg) c.2781C>G (p.Ser927Arg) c.*2423C>G (n.*2423C>G) n.2806C>G c.237C>G (p.Ser79Arg) c.2703C>G (p.Ser901Arg) c.655+2718C>G (n.655+2718C>G) c.1168-553C>G (n.1168-553C>G) c.2634C>G (p.Ser878Arg) c.2697C>G (p.Ser899Arg) c.2685C>G (p.Ser895Arg) | |
2 | g.144398481G= | CA1294884913 | ZEB2 | c.*2555C= (n.*2555C=) c.1929C= (p.Ser643=) c.2706C= (p.Ser902=) n.2675C= c.2370C= (p.Ser790=) c.2781C= (p.Ser927=) c.*2423C= (n.*2423C=) n.2806C= c.237C= (p.Ser79=) c.2703C= (p.Ser901=) c.655+2718C= (n.655+2718C=) c.1168-553C= (n.1168-553C=) c.2634C= (p.Ser878=) c.2697C= (p.Ser899=) c.2685C= (p.Ser895=) | |
2 | g.144398481G>T | CA348707297 | ZEB2 | c.*2555C>A (n.*2555C>A) c.1929C>A (p.Ser643Arg) c.2706C>A (p.Ser902Arg) n.2675C>A c.2370C>A (p.Ser790Arg) c.2781C>A (p.Ser927Arg) c.*2423C>A (n.*2423C>A) n.2806C>A c.237C>A (p.Ser79Arg) c.2703C>A (p.Ser901Arg) c.655+2718C>A (n.655+2718C>A) c.1168-553C>A (n.1168-553C>A) c.2634C>A (p.Ser878Arg) c.2697C>A (p.Ser899Arg) c.2685C>A (p.Ser895Arg) | |
2 | g.144398482C>A | CA348707301 | ZEB2 | c.*2554G>T (n.*2554G>T) c.1928G>T (p.Ser643Ile) c.2705G>T (p.Ser902Ile) n.2674G>T c.2369G>T (p.Ser790Ile) c.2780G>T (p.Ser927Ile) c.*2422G>T (n.*2422G>T) n.2805G>T c.236G>T (p.Ser79Ile) c.2702G>T (p.Ser901Ile) c.655+2717G>T (n.655+2717G>T) c.1168-554G>T (n.1168-554G>T) c.2633G>T (p.Ser878Ile) c.2696G>T (p.Ser899Ile) c.2684G>T (p.Ser895Ile) | |
2 | g.144398482C>G | CA348707303 | ZEB2 | c.*2554G>C (n.*2554G>C) c.1928G>C (p.Ser643Thr) c.2705G>C (p.Ser902Thr) n.2674G>C c.2369G>C (p.Ser790Thr) c.2780G>C (p.Ser927Thr) c.*2422G>C (n.*2422G>C) n.2805G>C c.236G>C (p.Ser79Thr) c.2702G>C (p.Ser901Thr) c.655+2717G>C (n.655+2717G>C) c.1168-554G>C (n.1168-554G>C) c.2633G>C (p.Ser878Thr) c.2696G>C (p.Ser899Thr) c.2684G>C (p.Ser895Thr) | |
2 | g.144398482C>T | CA348707305 | ZEB2 | c.*2554G>A (n.*2554G>A) c.1928G>A (p.Ser643Asn) c.2705G>A (p.Ser902Asn) n.2674G>A c.2369G>A (p.Ser790Asn) c.2780G>A (p.Ser927Asn) c.*2422G>A (n.*2422G>A) n.2805G>A c.236G>A (p.Ser79Asn) c.2702G>A (p.Ser901Asn) c.655+2717G>A (n.655+2717G>A) c.1168-554G>A (n.1168-554G>A) c.2633G>A (p.Ser878Asn) c.2696G>A (p.Ser899Asn) c.2684G>A (p.Ser895Asn) | COSMIC |
2 | g.144398483T>A | CA348707308 | ZEB2 | c.*2553A>T (n.*2553A>T) c.1927A>T (p.Ser643Cys) c.2704A>T (p.Ser902Cys) n.2673A>T c.2368A>T (p.Ser790Cys) c.2779A>T (p.Ser927Cys) c.*2421A>T (n.*2421A>T) n.2804A>T c.235A>T (p.Ser79Cys) c.2701A>T (p.Ser901Cys) c.655+2716A>T (n.655+2716A>T) c.1168-555A>T (n.1168-555A>T) c.2632A>T (p.Ser878Cys) c.2695A>T (p.Ser899Cys) c.2683A>T (p.Ser895Cys) | |
2 | g.144398483T>C | CA348707309 | ZEB2 | c.*2553A>G (n.*2553A>G) c.1927A>G (p.Ser643Gly) c.2704A>G (p.Ser902Gly) n.2673A>G c.2368A>G (p.Ser790Gly) c.2779A>G (p.Ser927Gly) c.*2421A>G (n.*2421A>G) n.2804A>G c.235A>G (p.Ser79Gly) c.2701A>G (p.Ser901Gly) c.655+2716A>G (n.655+2716A>G) c.1168-555A>G (n.1168-555A>G) c.2632A>G (p.Ser878Gly) c.2695A>G (p.Ser899Gly) c.2683A>G (p.Ser895Gly) | |
2 | g.144398483T>G | CA348707312 | ZEB2 | c.*2553A>C (n.*2553A>C) c.1927A>C (p.Ser643Arg) c.2704A>C (p.Ser902Arg) n.2673A>C c.2368A>C (p.Ser790Arg) c.2779A>C (p.Ser927Arg) c.*2421A>C (n.*2421A>C) n.2804A>C c.235A>C (p.Ser79Arg) c.2701A>C (p.Ser901Arg) c.655+2716A>C (n.655+2716A>C) c.1168-555A>C (n.1168-555A>C) c.2632A>C (p.Ser878Arg) c.2695A>C (p.Ser899Arg) c.2683A>C (p.Ser895Arg) | |
2 | g.144398484T>A | CA348707315 | ZEB2 | c.*2552A>T (n.*2552A>T) c.1926A>T (p.Gln642His) c.2703A>T (p.Gln901His) n.2672A>T c.2367A>T (p.Gln789His) c.2778A>T (p.Gln926His) c.*2420A>T (n.*2420A>T) n.2803A>T c.234A>T (p.Gln78His) c.2700A>T (p.Gln900His) c.655+2715A>T (n.655+2715A>T) c.1168-556A>T (n.1168-556A>T) c.2631A>T (p.Gln877His) c.2694A>T (p.Gln898His) c.2682A>T (p.Gln894His) | |
2 | g.144398484T>C | CA429444989 | ZEB2 | c.*2552A>G (n.*2552A>G) c.1926A>G (p.Gln642=) c.2703A>G (p.Gln901=) n.2672A>G c.2367A>G (p.Gln789=) c.2778A>G (p.Gln926=) c.*2420A>G (n.*2420A>G) n.2803A>G c.234A>G (p.Gln78=) c.2700A>G (p.Gln900=) c.655+2715A>G (n.655+2715A>G) c.1168-556A>G (n.1168-556A>G) c.2631A>G (p.Gln877=) c.2694A>G (p.Gln898=) c.2682A>G (p.Gln894=) | gnomAD v4 |
2 | g.144398484T>G | CA348707316 | ZEB2 | c.*2552A>C (n.*2552A>C) c.1926A>C (p.Gln642His) c.2703A>C (p.Gln901His) n.2672A>C c.2367A>C (p.Gln789His) c.2778A>C (p.Gln926His) c.*2420A>C (n.*2420A>C) n.2803A>C c.234A>C (p.Gln78His) c.2700A>C (p.Gln900His) c.655+2715A>C (n.655+2715A>C) c.1168-556A>C (n.1168-556A>C) c.2631A>C (p.Gln877His) c.2694A>C (p.Gln898His) c.2682A>C (p.Gln894His) | |
2 | g.144398485T>A | CA348707320 | ZEB2 | c.*2551A>T (n.*2551A>T) c.1925A>T (p.Gln642Leu) c.2702A>T (p.Gln901Leu) n.2671A>T c.2366A>T (p.Gln789Leu) c.2777A>T (p.Gln926Leu) c.*2419A>T (n.*2419A>T) n.2802A>T c.233A>T (p.Gln78Leu) c.2699A>T (p.Gln900Leu) c.655+2714A>T (n.655+2714A>T) c.1168-557A>T (n.1168-557A>T) c.2630A>T (p.Gln877Leu) c.2693A>T (p.Gln898Leu) c.2681A>T (p.Gln894Leu) | |
2 | g.144398485T>C | CA348707324 | ZEB2 | c.*2551A>G (n.*2551A>G) c.1925A>G (p.Gln642Arg) c.2702A>G (p.Gln901Arg) n.2671A>G c.2366A>G (p.Gln789Arg) c.2777A>G (p.Gln926Arg) c.*2419A>G (n.*2419A>G) n.2802A>G c.233A>G (p.Gln78Arg) c.2699A>G (p.Gln900Arg) c.655+2714A>G (n.655+2714A>G) c.1168-557A>G (n.1168-557A>G) c.2630A>G (p.Gln877Arg) c.2693A>G (p.Gln898Arg) c.2681A>G (p.Gln894Arg) | |
2 | g.144398485T>G | CA348707322 | ZEB2 | c.*2551A>C (n.*2551A>C) c.1925A>C (p.Gln642Pro) c.2702A>C (p.Gln901Pro) n.2671A>C c.2366A>C (p.Gln789Pro) c.2777A>C (p.Gln926Pro) c.*2419A>C (n.*2419A>C) n.2802A>C c.233A>C (p.Gln78Pro) c.2699A>C (p.Gln900Pro) c.655+2714A>C (n.655+2714A>C) c.1168-557A>C (n.1168-557A>C) c.2630A>C (p.Gln877Pro) c.2693A>C (p.Gln898Pro) c.2681A>C (p.Gln894Pro) | |
2 | g.144398486G>A | CA275438 | ZEB2 | c.*2550C>T (n.*2550C>T) c.1924C>T (p.Gln642Ter) c.2701C>T (p.Gln901Ter) n.2670C>T c.2365C>T (p.Gln789Ter) c.2776C>T (p.Gln926Ter) c.*2418C>T (n.*2418C>T) n.2801C>T c.232C>T (p.Gln78Ter) c.2698C>T (p.Gln900Ter) c.655+2713C>T (n.655+2713C>T) c.1168-558C>T (n.1168-558C>T) c.2629C>T (p.Gln877Ter) c.2692C>T (p.Gln898Ter) c.2680C>T (p.Gln894Ter) | ClinVar dbSNP |
2 | g.144398486G>C | CA348707328 | ZEB2 | c.*2550C>G (n.*2550C>G) c.1924C>G (p.Gln642Glu) c.2701C>G (p.Gln901Glu) n.2670C>G c.2365C>G (p.Gln789Glu) c.2776C>G (p.Gln926Glu) c.*2418C>G (n.*2418C>G) n.2801C>G c.232C>G (p.Gln78Glu) c.2698C>G (p.Gln900Glu) c.655+2713C>G (n.655+2713C>G) c.1168-558C>G (n.1168-558C>G) c.2629C>G (p.Gln877Glu) c.2692C>G (p.Gln898Glu) c.2680C>G (p.Gln894Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.144398486G= | CA1294884914 | ZEB2 | c.*2550C= (n.*2550C=) c.1924C= (p.Gln642=) c.2701C= (p.Gln901=) n.2670C= c.2365C= (p.Gln789=) c.2776C= (p.Gln926=) c.*2418C= (n.*2418C=) n.2801C= c.232C= (p.Gln78=) c.2698C= (p.Gln900=) c.655+2713C= (n.655+2713C=) c.1168-558C= (n.1168-558C=) c.2629C= (p.Gln877=) c.2692C= (p.Gln898=) c.2680C= (p.Gln894=) | |
2 | g.144398486G>T | CA348707330 | ZEB2 | c.*2550C>A (n.*2550C>A) c.1924C>A (p.Gln642Lys) c.2701C>A (p.Gln901Lys) n.2670C>A c.2365C>A (p.Gln789Lys) c.2776C>A (p.Gln926Lys) c.*2418C>A (n.*2418C>A) n.2801C>A c.232C>A (p.Gln78Lys) c.2698C>A (p.Gln900Lys) c.655+2713C>A (n.655+2713C>A) c.1168-558C>A (n.1168-558C>A) c.2629C>A (p.Gln877Lys) c.2692C>A (p.Gln898Lys) c.2680C>A (p.Gln894Lys) | |
2 | g.144398487A>C | CA429444991 | ZEB2 | c.*2549T>G (n.*2549T>G) c.1923T>G (p.Pro641=) c.2700T>G (p.Pro900=) n.2669T>G c.2364T>G (p.Pro788=) c.2775T>G (p.Pro925=) c.*2417T>G (n.*2417T>G) n.2800T>G c.231T>G (p.Pro77=) c.2697T>G (p.Pro899=) c.655+2712T>G (n.655+2712T>G) c.1168-559T>G (n.1168-559T>G) c.2628T>G (p.Pro876=) c.2691T>G (p.Pro897=) c.2679T>G (p.Pro893=) | |
2 | g.144398487A>G | CA429444992 | ZEB2 | c.*2549T>C (n.*2549T>C) c.1923T>C (p.Pro641=) c.2700T>C (p.Pro900=) n.2669T>C c.2364T>C (p.Pro788=) c.2775T>C (p.Pro925=) c.*2417T>C (n.*2417T>C) n.2800T>C c.231T>C (p.Pro77=) c.2697T>C (p.Pro899=) c.655+2712T>C (n.655+2712T>C) c.1168-559T>C (n.1168-559T>C) c.2628T>C (p.Pro876=) c.2691T>C (p.Pro897=) c.2679T>C (p.Pro893=) | |
2 | g.144398487A>T | CA429444993 | ZEB2 | c.*2549T>A (n.*2549T>A) c.1923T>A (p.Pro641=) c.2700T>A (p.Pro900=) n.2669T>A c.2364T>A (p.Pro788=) c.2775T>A (p.Pro925=) c.*2417T>A (n.*2417T>A) n.2800T>A c.231T>A (p.Pro77=) c.2697T>A (p.Pro899=) c.655+2712T>A (n.655+2712T>A) c.1168-559T>A (n.1168-559T>A) c.2628T>A (p.Pro876=) c.2691T>A (p.Pro897=) c.2679T>A (p.Pro893=) | |
2 | g.144398488G>A | CA348707333 | ZEB2 | c.*2548C>T (n.*2548C>T) c.1922C>T (p.Pro641Leu) c.2699C>T (p.Pro900Leu) n.2668C>T c.2363C>T (p.Pro788Leu) c.2774C>T (p.Pro925Leu) c.*2416C>T (n.*2416C>T) n.2799C>T c.230C>T (p.Pro77Leu) c.2696C>T (p.Pro899Leu) c.655+2711C>T (n.655+2711C>T) c.1168-560C>T (n.1168-560C>T) c.2627C>T (p.Pro876Leu) c.2690C>T (p.Pro897Leu) c.2678C>T (p.Pro893Leu) | |
2 | g.144398488G>C | CA348707335 | ZEB2 | c.*2548C>G (n.*2548C>G) c.1922C>G (p.Pro641Arg) c.2699C>G (p.Pro900Arg) n.2668C>G c.2363C>G (p.Pro788Arg) c.2774C>G (p.Pro925Arg) c.*2416C>G (n.*2416C>G) n.2799C>G c.230C>G (p.Pro77Arg) c.2696C>G (p.Pro899Arg) c.655+2711C>G (n.655+2711C>G) c.1168-560C>G (n.1168-560C>G) c.2627C>G (p.Pro876Arg) c.2690C>G (p.Pro897Arg) c.2678C>G (p.Pro893Arg) | |
2 | g.144398488G>T | CA348707337 | ZEB2 | c.*2548C>A (n.*2548C>A) c.1922C>A (p.Pro641His) c.2699C>A (p.Pro900His) n.2668C>A c.2363C>A (p.Pro788His) c.2774C>A (p.Pro925His) c.*2416C>A (n.*2416C>A) n.2799C>A c.230C>A (p.Pro77His) c.2696C>A (p.Pro899His) c.655+2711C>A (n.655+2711C>A) c.1168-560C>A (n.1168-560C>A) c.2627C>A (p.Pro876His) c.2690C>A (p.Pro897His) c.2678C>A (p.Pro893His) | |
2 | g.144398489del | CA2586970075 | ZEB2 | c.*2548del (n.*2548del) c.1922del (p.Pro641LeufsTer30) c.2699del (p.Pro900LeufsTer30) n.2668del c.2363del (p.Pro788LeufsTer30) c.2774del (p.Pro925LeufsTer30) c.*2416del (n.*2416del) n.2799del c.230del (p.Pro77LeufsTer30) c.2696del (p.Pro899LeufsTer30) c.655+2711del (n.655+2711del) c.1168-560del (n.1168-560del) c.2627del (p.Pro876LeufsTer30) c.2690del (p.Pro897LeufsTer30) c.2678del (p.Pro893LeufsTer30) | |
2 | g.144398489G>A | CA348707340 | ZEB2 | c.*2547C>T (n.*2547C>T) c.1921C>T (p.Pro641Ser) c.2698C>T (p.Pro900Ser) n.2667C>T c.2362C>T (p.Pro788Ser) c.2773C>T (p.Pro925Ser) c.*2415C>T (n.*2415C>T) n.2798C>T c.229C>T (p.Pro77Ser) c.2695C>T (p.Pro899Ser) c.655+2710C>T (n.655+2710C>T) c.1168-561C>T (n.1168-561C>T) c.2626C>T (p.Pro876Ser) c.2689C>T (p.Pro897Ser) c.2677C>T (p.Pro893Ser) | |
2 | g.144398489G>C | CA348707342 | ZEB2 | c.*2547C>G (n.*2547C>G) c.1921C>G (p.Pro641Ala) c.2698C>G (p.Pro900Ala) n.2667C>G c.2362C>G (p.Pro788Ala) c.2773C>G (p.Pro925Ala) c.*2415C>G (n.*2415C>G) n.2798C>G c.229C>G (p.Pro77Ala) c.2695C>G (p.Pro899Ala) c.655+2710C>G (n.655+2710C>G) c.1168-561C>G (n.1168-561C>G) c.2626C>G (p.Pro876Ala) c.2689C>G (p.Pro897Ala) c.2677C>G (p.Pro893Ala) | |
2 | g.144398489G>T | CA348707343 | ZEB2 | c.*2547C>A (n.*2547C>A) c.1921C>A (p.Pro641Thr) c.2698C>A (p.Pro900Thr) n.2667C>A c.2362C>A (p.Pro788Thr) c.2773C>A (p.Pro925Thr) c.*2415C>A (n.*2415C>A) n.2798C>A c.229C>A (p.Pro77Thr) c.2695C>A (p.Pro899Thr) c.655+2710C>A (n.655+2710C>A) c.1168-561C>A (n.1168-561C>A) c.2626C>A (p.Pro876Thr) c.2689C>A (p.Pro897Thr) c.2677C>A (p.Pro893Thr) | |
2 | g.144398490T>A | CA429444997 | ZEB2 | c.*2546A>T (n.*2546A>T) c.1920A>T (p.Pro640=) c.2697A>T (p.Pro899=) n.2666A>T c.2361A>T (p.Pro787=) c.2772A>T (p.Pro924=) c.*2414A>T (n.*2414A>T) n.2797A>T c.228A>T (p.Pro76=) c.2694A>T (p.Pro898=) c.655+2709A>T (n.655+2709A>T) c.1168-562A>T (n.1168-562A>T) c.2625A>T (p.Pro875=) c.2688A>T (p.Pro896=) c.2676A>T (p.Pro892=) | |
2 | g.144398490T>C | CA1898220 | ZEB2 | c.*2546A>G (n.*2546A>G) c.1920A>G (p.Pro640=) c.2697A>G (p.Pro899=) n.2666A>G c.2361A>G (p.Pro787=) c.2772A>G (p.Pro924=) c.*2414A>G (n.*2414A>G) n.2797A>G c.228A>G (p.Pro76=) c.2694A>G (p.Pro898=) c.655+2709A>G (n.655+2709A>G) c.1168-562A>G (n.1168-562A>G) c.2625A>G (p.Pro875=) c.2688A>G (p.Pro896=) c.2676A>G (p.Pro892=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.144398490T>G | CA429444999 | ZEB2 | c.*2546A>C (n.*2546A>C) c.1920A>C (p.Pro640=) c.2697A>C (p.Pro899=) n.2666A>C c.2361A>C (p.Pro787=) c.2772A>C (p.Pro924=) c.*2414A>C (n.*2414A>C) n.2797A>C c.228A>C (p.Pro76=) c.2694A>C (p.Pro898=) c.655+2709A>C (n.655+2709A>C) c.1168-562A>C (n.1168-562A>C) c.2625A>C (p.Pro875=) c.2688A>C (p.Pro896=) c.2676A>C (p.Pro892=) | |
2 | g.144398490T= | CA1294884915 | ZEB2 | c.*2546A= (n.*2546A=) c.1920A= (p.Pro640=) c.2697A= (p.Pro899=) n.2666A= c.2361A= (p.Pro787=) c.2772A= (p.Pro924=) c.*2414A= (n.*2414A=) n.2797A= c.228A= (p.Pro76=) c.2694A= (p.Pro898=) c.655+2709A= (n.655+2709A=) c.1168-562A= (n.1168-562A=) c.2625A= (p.Pro875=) c.2688A= (p.Pro896=) c.2676A= (p.Pro892=) | |
2 | g.144398491G>A | CA348707354 | ZEB2 | c.*2545C>T (n.*2545C>T) c.1919C>T (p.Pro640Leu) c.2696C>T (p.Pro899Leu) n.2665C>T c.2360C>T (p.Pro787Leu) c.2771C>T (p.Pro924Leu) c.*2413C>T (n.*2413C>T) n.2796C>T c.227C>T (p.Pro76Leu) c.2693C>T (p.Pro898Leu) c.655+2708C>T (n.655+2708C>T) c.1168-563C>T (n.1168-563C>T) c.2624C>T (p.Pro875Leu) c.2687C>T (p.Pro896Leu) c.2675C>T (p.Pro892Leu) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.144398491G>C | CA348707352 | ZEB2 | c.*2545C>G (n.*2545C>G) c.1919C>G (p.Pro640Arg) c.2696C>G (p.Pro899Arg) n.2665C>G c.2360C>G (p.Pro787Arg) c.2771C>G (p.Pro924Arg) c.*2413C>G (n.*2413C>G) n.2796C>G c.227C>G (p.Pro76Arg) c.2693C>G (p.Pro898Arg) c.655+2708C>G (n.655+2708C>G) c.1168-563C>G (n.1168-563C>G) c.2624C>G (p.Pro875Arg) c.2687C>G (p.Pro896Arg) c.2675C>G (p.Pro892Arg) | |
2 | g.144398491G= | CA1294884916 | ZEB2 | c.*2545C= (n.*2545C=) c.1919C= (p.Pro640=) c.2696C= (p.Pro899=) n.2665C= c.2360C= (p.Pro787=) c.2771C= (p.Pro924=) c.*2413C= (n.*2413C=) n.2796C= c.227C= (p.Pro76=) c.2693C= (p.Pro898=) c.655+2708C= (n.655+2708C=) c.1168-563C= (n.1168-563C=) c.2624C= (p.Pro875=) c.2687C= (p.Pro896=) c.2675C= (p.Pro892=) | |
2 | g.144398491G>T | CA348707350 | ZEB2 | c.*2545C>A (n.*2545C>A) c.1919C>A (p.Pro640Gln) c.2696C>A (p.Pro899Gln) n.2665C>A c.2360C>A (p.Pro787Gln) c.2771C>A (p.Pro924Gln) c.*2413C>A (n.*2413C>A) n.2796C>A c.227C>A (p.Pro76Gln) c.2693C>A (p.Pro898Gln) c.655+2708C>A (n.655+2708C>A) c.1168-563C>A (n.1168-563C>A) c.2624C>A (p.Pro875Gln) c.2687C>A (p.Pro896Gln) c.2675C>A (p.Pro892Gln) | |
2 | g.144398492G>A | CA348707356 | ZEB2 | c.*2544C>T (n.*2544C>T) c.1918C>T (p.Pro640Ser) c.2695C>T (p.Pro899Ser) n.2664C>T c.2359C>T (p.Pro787Ser) c.2770C>T (p.Pro924Ser) c.*2412C>T (n.*2412C>T) n.2795C>T c.226C>T (p.Pro76Ser) c.2692C>T (p.Pro898Ser) c.655+2707C>T (n.655+2707C>T) c.1168-564C>T (n.1168-564C>T) c.2623C>T (p.Pro875Ser) c.2686C>T (p.Pro896Ser) c.2674C>T (p.Pro892Ser) | |
2 | g.144398492G>C | CA348707358 | ZEB2 | c.*2544C>G (n.*2544C>G) c.1918C>G (p.Pro640Ala) c.2695C>G (p.Pro899Ala) n.2664C>G c.2359C>G (p.Pro787Ala) c.2770C>G (p.Pro924Ala) c.*2412C>G (n.*2412C>G) n.2795C>G c.226C>G (p.Pro76Ala) c.2692C>G (p.Pro898Ala) c.655+2707C>G (n.655+2707C>G) c.1168-564C>G (n.1168-564C>G) c.2623C>G (p.Pro875Ala) c.2686C>G (p.Pro896Ala) c.2674C>G (p.Pro892Ala) | |
2 | g.144398492G>T | CA348707360 | ZEB2 | c.*2544C>A (n.*2544C>A) c.1918C>A (p.Pro640Thr) c.2695C>A (p.Pro899Thr) n.2664C>A c.2359C>A (p.Pro787Thr) c.2770C>A (p.Pro924Thr) c.*2412C>A (n.*2412C>A) n.2795C>A c.226C>A (p.Pro76Thr) c.2692C>A (p.Pro898Thr) c.655+2707C>A (n.655+2707C>A) c.1168-564C>A (n.1168-564C>A) c.2623C>A (p.Pro875Thr) c.2686C>A (p.Pro896Thr) c.2674C>A (p.Pro892Thr) | |
2 | g.144398493A>C | CA429445003 | ZEB2 | c.*2543T>G (n.*2543T>G) c.1917T>G (p.Leu639=) c.2694T>G (p.Leu898=) n.2663T>G c.2358T>G (p.Leu786=) c.2769T>G (p.Leu923=) c.*2411T>G (n.*2411T>G) n.2794T>G c.225T>G (p.Leu75=) c.2691T>G (p.Leu897=) c.655+2706T>G (n.655+2706T>G) c.1168-565T>G (n.1168-565T>G) c.2622T>G (p.Leu874=) c.2685T>G (p.Leu895=) c.2673T>G (p.Leu891=) | |
2 | g.144398493A>G | CA429445004 | ZEB2 | c.*2543T>C (n.*2543T>C) c.1917T>C (p.Leu639=) c.2694T>C (p.Leu898=) n.2663T>C c.2358T>C (p.Leu786=) c.2769T>C (p.Leu923=) c.*2411T>C (n.*2411T>C) n.2794T>C c.225T>C (p.Leu75=) c.2691T>C (p.Leu897=) c.655+2706T>C (n.655+2706T>C) c.1168-565T>C (n.1168-565T>C) c.2622T>C (p.Leu874=) c.2685T>C (p.Leu895=) c.2673T>C (p.Leu891=) | |
2 | g.144398493A>T | CA429445005 | ZEB2 | c.*2543T>A (n.*2543T>A) c.1917T>A (p.Leu639=) c.2694T>A (p.Leu898=) n.2663T>A c.2358T>A (p.Leu786=) c.2769T>A (p.Leu923=) c.*2411T>A (n.*2411T>A) n.2794T>A c.225T>A (p.Leu75=) c.2691T>A (p.Leu897=) c.655+2706T>A (n.655+2706T>A) c.1168-565T>A (n.1168-565T>A) c.2622T>A (p.Leu874=) c.2685T>A (p.Leu895=) c.2673T>A (p.Leu891=) | |
2 | g.144398494A>C | CA348707362 | ZEB2 | c.*2542T>G (n.*2542T>G) c.1916T>G (p.Leu639Arg) c.2693T>G (p.Leu898Arg) n.2662T>G c.2357T>G (p.Leu786Arg) c.2768T>G (p.Leu923Arg) c.*2410T>G (n.*2410T>G) n.2793T>G c.224T>G (p.Leu75Arg) c.2690T>G (p.Leu897Arg) c.655+2705T>G (n.655+2705T>G) c.1168-566T>G (n.1168-566T>G) c.2621T>G (p.Leu874Arg) c.2684T>G (p.Leu895Arg) c.2672T>G (p.Leu891Arg) | gnomAD v4 COSMIC |
2 | g.144398494A>G | CA348707364 | ZEB2 | c.*2542T>C (n.*2542T>C) c.1916T>C (p.Leu639Pro) c.2693T>C (p.Leu898Pro) n.2662T>C c.2357T>C (p.Leu786Pro) c.2768T>C (p.Leu923Pro) c.*2410T>C (n.*2410T>C) n.2793T>C c.224T>C (p.Leu75Pro) c.2690T>C (p.Leu897Pro) c.655+2705T>C (n.655+2705T>C) c.1168-566T>C (n.1168-566T>C) c.2621T>C (p.Leu874Pro) c.2684T>C (p.Leu895Pro) c.2672T>C (p.Leu891Pro) | |
2 | g.144398494A>T | CA348707366 | ZEB2 | c.*2542T>A (n.*2542T>A) c.1916T>A (p.Leu639His) c.2693T>A (p.Leu898His) n.2662T>A c.2357T>A (p.Leu786His) c.2768T>A (p.Leu923His) c.*2410T>A (n.*2410T>A) n.2793T>A c.224T>A (p.Leu75His) c.2690T>A (p.Leu897His) c.655+2705T>A (n.655+2705T>A) c.1168-566T>A (n.1168-566T>A) c.2621T>A (p.Leu874His) c.2684T>A (p.Leu895His) c.2672T>A (p.Leu891His) | |
2 | g.144398495G>A | CA348707367 | ZEB2 | c.*2541C>T (n.*2541C>T) c.1915C>T (p.Leu639Phe) c.2692C>T (p.Leu898Phe) n.2661C>T c.2356C>T (p.Leu786Phe) c.2767C>T (p.Leu923Phe) c.*2409C>T (n.*2409C>T) n.2792C>T c.223C>T (p.Leu75Phe) c.2689C>T (p.Leu897Phe) c.655+2704C>T (n.655+2704C>T) c.1168-567C>T (n.1168-567C>T) c.2620C>T (p.Leu874Phe) c.2683C>T (p.Leu895Phe) c.2671C>T (p.Leu891Phe) | ClinVar dbSNP |
2 | g.144398495G>C | CA348707369 | ZEB2 | c.*2541C>G (n.*2541C>G) c.1915C>G (p.Leu639Val) c.2692C>G (p.Leu898Val) n.2661C>G c.2356C>G (p.Leu786Val) c.2767C>G (p.Leu923Val) c.*2409C>G (n.*2409C>G) n.2792C>G c.223C>G (p.Leu75Val) c.2689C>G (p.Leu897Val) c.655+2704C>G (n.655+2704C>G) c.1168-567C>G (n.1168-567C>G) c.2620C>G (p.Leu874Val) c.2683C>G (p.Leu895Val) c.2671C>G (p.Leu891Val) | |
2 | g.144398495G= | CA1294884917 | ZEB2 | c.*2541C= (n.*2541C=) c.1915C= (p.Leu639=) c.2692C= (p.Leu898=) n.2661C= c.2356C= (p.Leu786=) c.2767C= (p.Leu923=) c.*2409C= (n.*2409C=) n.2792C= c.223C= (p.Leu75=) c.2689C= (p.Leu897=) c.655+2704C= (n.655+2704C=) c.1168-567C= (n.1168-567C=) c.2620C= (p.Leu874=) c.2683C= (p.Leu895=) c.2671C= (p.Leu891=) | |
2 | g.144398495G>T | CA348707371 | ZEB2 | c.*2541C>A (n.*2541C>A) c.1915C>A (p.Leu639Ile) c.2692C>A (p.Leu898Ile) n.2661C>A c.2356C>A (p.Leu786Ile) c.2767C>A (p.Leu923Ile) c.*2409C>A (n.*2409C>A) n.2792C>A c.223C>A (p.Leu75Ile) c.2689C>A (p.Leu897Ile) c.655+2704C>A (n.655+2704C>A) c.1168-567C>A (n.1168-567C>A) c.2620C>A (p.Leu874Ile) c.2683C>A (p.Leu895Ile) c.2671C>A (p.Leu891Ile) | |
2 | g.144398496A= | CA1294884918 | ZEB2 | c.*2540T= (n.*2540T=) c.1914T= (p.Ala638=) c.2691T= (p.Ala897=) n.2660T= c.2355T= (p.Ala785=) c.2766T= (p.Ala922=) c.*2408T= (n.*2408T=) n.2791T= c.222T= (p.Ala74=) c.2688T= (p.Ala896=) c.655+2703T= (n.655+2703T=) c.1168-568T= (n.1168-568T=) c.2619T= (p.Ala873=) c.2682T= (p.Ala894=) c.2670T= (p.Ala890=) | |
2 | g.144398496A>C | CA429445009 | ZEB2 | c.*2540T>G (n.*2540T>G) c.1914T>G (p.Ala638=) c.2691T>G (p.Ala897=) n.2660T>G c.2355T>G (p.Ala785=) c.2766T>G (p.Ala922=) c.*2408T>G (n.*2408T>G) n.2791T>G c.222T>G (p.Ala74=) c.2688T>G (p.Ala896=) c.655+2703T>G (n.655+2703T>G) c.1168-568T>G (n.1168-568T>G) c.2619T>G (p.Ala873=) c.2682T>G (p.Ala894=) c.2670T>G (p.Ala890=) | |
2 | g.144398496A>G | CA429445010 | ZEB2 | c.*2540T>C (n.*2540T>C) c.1914T>C (p.Ala638=) c.2691T>C (p.Ala897=) n.2660T>C c.2355T>C (p.Ala785=) c.2766T>C (p.Ala922=) c.*2408T>C (n.*2408T>C) n.2791T>C c.222T>C (p.Ala74=) c.2688T>C (p.Ala896=) c.655+2703T>C (n.655+2703T>C) c.1168-568T>C (n.1168-568T>C) c.2619T>C (p.Ala873=) c.2682T>C (p.Ala894=) c.2670T>C (p.Ala890=) | |
2 | g.144398496A>T | CA429445013 | ZEB2 | c.*2540T>A (n.*2540T>A) c.1914T>A (p.Ala638=) c.2691T>A (p.Ala897=) n.2660T>A c.2355T>A (p.Ala785=) c.2766T>A (p.Ala922=) c.*2408T>A (n.*2408T>A) n.2791T>A c.222T>A (p.Ala74=) c.2688T>A (p.Ala896=) c.655+2703T>A (n.655+2703T>A) c.1168-568T>A (n.1168-568T>A) c.2619T>A (p.Ala873=) c.2682T>A (p.Ala894=) c.2670T>A (p.Ala890=) | ClinVar dbSNP |
2 | g.144398497G>A | CA348707373 | ZEB2 | c.*2539C>T (n.*2539C>T) c.1913C>T (p.Ala638Val) c.2690C>T (p.Ala897Val) n.2659C>T c.2354C>T (p.Ala785Val) c.2765C>T (p.Ala922Val) c.*2407C>T (n.*2407C>T) n.2790C>T c.221C>T (p.Ala74Val) c.2687C>T (p.Ala896Val) c.655+2702C>T (n.655+2702C>T) c.1168-569C>T (n.1168-569C>T) c.2618C>T (p.Ala873Val) c.2681C>T (p.Ala894Val) c.2669C>T (p.Ala890Val) | |
2 | g.144398497G>C | CA348707375 | ZEB2 | c.*2539C>G (n.*2539C>G) c.1913C>G (p.Ala638Gly) c.2690C>G (p.Ala897Gly) n.2659C>G c.2354C>G (p.Ala785Gly) c.2765C>G (p.Ala922Gly) c.*2407C>G (n.*2407C>G) n.2790C>G c.221C>G (p.Ala74Gly) c.2687C>G (p.Ala896Gly) c.655+2702C>G (n.655+2702C>G) c.1168-569C>G (n.1168-569C>G) c.2618C>G (p.Ala873Gly) c.2681C>G (p.Ala894Gly) c.2669C>G (p.Ala890Gly) | |
2 | g.144398497G>T | CA348707377 | ZEB2 | c.*2539C>A (n.*2539C>A) c.1913C>A (p.Ala638Asp) c.2690C>A (p.Ala897Asp) n.2659C>A c.2354C>A (p.Ala785Asp) c.2765C>A (p.Ala922Asp) c.*2407C>A (n.*2407C>A) n.2790C>A c.221C>A (p.Ala74Asp) c.2687C>A (p.Ala896Asp) c.655+2702C>A (n.655+2702C>A) c.1168-569C>A (n.1168-569C>A) c.2618C>A (p.Ala873Asp) c.2681C>A (p.Ala894Asp) c.2669C>A (p.Ala890Asp) | |
2 | g.144398497_144398503delinsGCTGTGT | CA1294884919 | ZEB2 | c.*2533_*2539delinsACACAGC (n.*2533_*2539delinsACACAGC) c.1907_1913delinsACACAGC (p.Tyr636=) c.2684_2690delinsACACAGC (p.Tyr895=) n.2653_2659delinsACACAGC c.2348_2354delinsACACAGC (p.Tyr783=) c.2759_2765delinsACACAGC (p.Tyr920=) c.*2401_*2407delinsACACAGC (n.*2401_*2407delinsACACAGC) n.2784_2790delinsACACAGC c.215_221delinsACACAGC (p.Tyr72=) c.2681_2687delinsACACAGC (p.Tyr894=) c.655+2696_655+2702delinsACACAGC (n.655+2696_655+2702delinsACACAGC) c.1168-575_1168-569delinsACACAGC (n.1168-575_1168-569delinsACACAGC) c.2612_2618delinsACACAGC (p.Tyr871=) c.2675_2681delinsACACAGC (p.Tyr892=) c.2663_2669delinsACACAGC (p.Tyr888=) | |
2 | g.144398498C>A | CA348707382 | ZEB2 | c.*2538G>T (n.*2538G>T) c.1912G>T (p.Ala638Ser) c.2689G>T (p.Ala897Ser) n.2658G>T c.2353G>T (p.Ala785Ser) c.2764G>T (p.Ala922Ser) c.*2406G>T (n.*2406G>T) n.2789G>T c.220G>T (p.Ala74Ser) c.2686G>T (p.Ala896Ser) c.655+2701G>T (n.655+2701G>T) c.1168-570G>T (n.1168-570G>T) c.2617G>T (p.Ala873Ser) c.2680G>T (p.Ala894Ser) c.2668G>T (p.Ala890Ser) | |
2 | g.144398498C= | CA1294884920 | ZEB2 | c.*2538G= (n.*2538G=) c.1912G= (p.Ala638=) c.2689G= (p.Ala897=) n.2658G= c.2353G= (p.Ala785=) c.2764G= (p.Ala922=) c.*2406G= (n.*2406G=) n.2789G= c.220G= (p.Ala74=) c.2686G= (p.Ala896=) c.655+2701G= (n.655+2701G=) c.1168-570G= (n.1168-570G=) c.2617G= (p.Ala873=) c.2680G= (p.Ala894=) c.2668G= (p.Ala890=) | |
2 | g.144398498C>G | CA348707384 | ZEB2 | c.*2538G>C (n.*2538G>C) c.1912G>C (p.Ala638Pro) c.2689G>C (p.Ala897Pro) n.2658G>C c.2353G>C (p.Ala785Pro) c.2764G>C (p.Ala922Pro) c.*2406G>C (n.*2406G>C) n.2789G>C c.220G>C (p.Ala74Pro) c.2686G>C (p.Ala896Pro) c.655+2701G>C (n.655+2701G>C) c.1168-570G>C (n.1168-570G>C) c.2617G>C (p.Ala873Pro) c.2680G>C (p.Ala894Pro) c.2668G>C (p.Ala890Pro) | |
2 | g.144398498C>T | CA348707380 | ZEB2 | c.*2538G>A (n.*2538G>A) c.1912G>A (p.Ala638Thr) c.2689G>A (p.Ala897Thr) n.2658G>A c.2353G>A (p.Ala785Thr) c.2764G>A (p.Ala922Thr) c.*2406G>A (n.*2406G>A) n.2789G>A c.220G>A (p.Ala74Thr) c.2686G>A (p.Ala896Thr) c.655+2701G>A (n.655+2701G>A) c.1168-570G>A (n.1168-570G>A) c.2617G>A (p.Ala873Thr) c.2680G>A (p.Ala894Thr) c.2668G>A (p.Ala890Thr) | ClinVar dbSNP gnomAD v4 |
2 | g.144398498_144398503del | CA916670950 | ZEB2 | c.*2533_*2538del (n.*2533_*2538del) c.1907_1912del (p.Tyr636_Ala638delinsSer) c.2684_2689del (p.Tyr895_Ala897delinsSer) n.2653_2658del c.2348_2353del (p.Tyr783_Ala785delinsSer) c.2759_2764del (p.Tyr920_Ala922delinsSer) c.*2401_*2406del (n.*2401_*2406del) n.2784_2789del c.215_220del (p.Tyr72_Ala74delinsSer) c.2681_2686del (p.Tyr894_Ala896delinsSer) c.655+2696_655+2701del (n.655+2696_655+2701del) c.1168-575_1168-570del (n.1168-575_1168-570del) c.2612_2617del (p.Tyr871_Ala873delinsSer) c.2675_2680del (p.Tyr892_Ala894delinsSer) c.2663_2668del (p.Tyr888_Ala890delinsSer) | dbSNP |
2 | g.144398499T>A | CA429445022 | ZEB2 | c.*2537A>T (n.*2537A>T) c.1911A>T (p.Thr637=) c.2688A>T (p.Thr896=) n.2657A>T c.2352A>T (p.Thr784=) c.2763A>T (p.Thr921=) c.*2405A>T (n.*2405A>T) n.2788A>T c.219A>T (p.Thr73=) c.2685A>T (p.Thr895=) c.655+2700A>T (n.655+2700A>T) c.1168-571A>T (n.1168-571A>T) c.2616A>T (p.Thr872=) c.2679A>T (p.Thr893=) c.2667A>T (p.Thr889=) | |
2 | g.144398499T>C | CA429445020 | ZEB2 | c.*2537A>G (n.*2537A>G) c.1911A>G (p.Thr637=) c.2688A>G (p.Thr896=) n.2657A>G c.2352A>G (p.Thr784=) c.2763A>G (p.Thr921=) c.*2405A>G (n.*2405A>G) n.2788A>G c.219A>G (p.Thr73=) c.2685A>G (p.Thr895=) c.655+2700A>G (n.655+2700A>G) c.1168-571A>G (n.1168-571A>G) c.2616A>G (p.Thr872=) c.2679A>G (p.Thr893=) c.2667A>G (p.Thr889=) | |
2 | g.144398499T>G | CA429445017 | ZEB2 | c.*2537A>C (n.*2537A>C) c.1911A>C (p.Thr637=) c.2688A>C (p.Thr896=) n.2657A>C c.2352A>C (p.Thr784=) c.2763A>C (p.Thr921=) c.*2405A>C (n.*2405A>C) n.2788A>C c.219A>C (p.Thr73=) c.2685A>C (p.Thr895=) c.655+2700A>C (n.655+2700A>C) c.1168-571A>C (n.1168-571A>C) c.2616A>C (p.Thr872=) c.2679A>C (p.Thr893=) c.2667A>C (p.Thr889=) | |
2 | g.144398499dup | CA658657061 | ZEB2 | c.*2537dup (n.*2537dup) c.1911dup (p.Ala638SerfsTer?) c.2688dup (p.Ala897SerfsTer?) n.2657dup c.2352dup (p.Ala785SerfsTer?) c.2763dup (p.Ala922SerfsTer?) c.*2405dup (n.*2405dup) n.2788dup c.219dup (p.Ala74SerfsTer?) c.2685dup (p.Ala896SerfsTer?) c.655+2700dup (n.655+2700dup) c.1168-571dup (n.1168-571dup) c.2616dup (p.Ala873SerfsTer?) c.2679dup (p.Ala894SerfsTer?) c.2667dup (p.Ala890SerfsTer?) | ClinVar dbSNP |
2 | g.144398502_144398503dup | CA274507 | ZEB2 | c.*2536_*2537dup (n.*2536_*2537dup) c.1910_1911dup (p.Ala638GlnfsTer?) c.2687_2688dup (p.Ala897GlnfsTer?) n.2656_2657dup c.2351_2352dup (p.Ala785GlnfsTer?) c.2762_2763dup (p.Ala922GlnfsTer?) c.*2404_*2405dup (n.*2404_*2405dup) n.2787_2788dup c.218_219dup (p.Ala74GlnfsTer?) c.2684_2685dup (p.Ala896GlnfsTer?) c.655+2699_655+2700dup (n.655+2699_655+2700dup) c.1168-572_1168-571dup (n.1168-572_1168-571dup) c.2615_2616dup (p.Ala873GlnfsTer?) c.2678_2679dup (p.Ala894GlnfsTer?) c.2666_2667dup (p.Ala890GlnfsTer?) | ClinVar dbSNP |
2 | g.144398500G>A | CA348707392 | ZEB2 | c.*2536C>T (n.*2536C>T) c.1910C>T (p.Thr637Ile) c.2687C>T (p.Thr896Ile) n.2656C>T c.2351C>T (p.Thr784Ile) c.2762C>T (p.Thr921Ile) c.*2404C>T (n.*2404C>T) n.2787C>T c.218C>T (p.Thr73Ile) c.2684C>T (p.Thr895Ile) c.655+2699C>T (n.655+2699C>T) c.1168-572C>T (n.1168-572C>T) c.2615C>T (p.Thr872Ile) c.2678C>T (p.Thr893Ile) c.2666C>T (p.Thr889Ile) | |
2 | g.144398500G>C | CA348707393 | ZEB2 | c.*2536C>G (n.*2536C>G) c.1910C>G (p.Thr637Arg) c.2687C>G (p.Thr896Arg) n.2656C>G c.2351C>G (p.Thr784Arg) c.2762C>G (p.Thr921Arg) c.*2404C>G (n.*2404C>G) n.2787C>G c.218C>G (p.Thr73Arg) c.2684C>G (p.Thr895Arg) c.655+2699C>G (n.655+2699C>G) c.1168-572C>G (n.1168-572C>G) c.2615C>G (p.Thr872Arg) c.2678C>G (p.Thr893Arg) c.2666C>G (p.Thr889Arg) | |
2 | g.144398500G>T | CA348707395 | ZEB2 | c.*2536C>A (n.*2536C>A) c.1910C>A (p.Thr637Lys) c.2687C>A (p.Thr896Lys) n.2656C>A c.2351C>A (p.Thr784Lys) c.2762C>A (p.Thr921Lys) c.*2404C>A (n.*2404C>A) n.2787C>A c.218C>A (p.Thr73Lys) c.2684C>A (p.Thr895Lys) c.655+2699C>A (n.655+2699C>A) c.1168-572C>A (n.1168-572C>A) c.2615C>A (p.Thr872Lys) c.2678C>A (p.Thr893Lys) c.2666C>A (p.Thr889Lys) | |
2 | g.144398501T>A | CA348707398 | ZEB2 | c.*2535A>T (n.*2535A>T) c.1909A>T (p.Thr637Ser) c.2686A>T (p.Thr896Ser) n.2655A>T c.2350A>T (p.Thr784Ser) c.2761A>T (p.Thr921Ser) c.*2403A>T (n.*2403A>T) n.2786A>T c.217A>T (p.Thr73Ser) c.2683A>T (p.Thr895Ser) c.655+2698A>T (n.655+2698A>T) c.1168-573A>T (n.1168-573A>T) c.2614A>T (p.Thr872Ser) c.2677A>T (p.Thr893Ser) c.2665A>T (p.Thr889Ser) | |
2 | g.144398501T>C | CA348707399 | ZEB2 | c.*2535A>G (n.*2535A>G) c.1909A>G (p.Thr637Ala) c.2686A>G (p.Thr896Ala) n.2655A>G c.2350A>G (p.Thr784Ala) c.2761A>G (p.Thr921Ala) c.*2403A>G (n.*2403A>G) n.2786A>G c.217A>G (p.Thr73Ala) c.2683A>G (p.Thr895Ala) c.655+2698A>G (n.655+2698A>G) c.1168-573A>G (n.1168-573A>G) c.2614A>G (p.Thr872Ala) c.2677A>G (p.Thr893Ala) c.2665A>G (p.Thr889Ala) | |
2 | g.144398501T>G | CA348707401 | ZEB2 | c.*2535A>C (n.*2535A>C) c.1909A>C (p.Thr637Pro) c.2686A>C (p.Thr896Pro) n.2655A>C c.2350A>C (p.Thr784Pro) c.2761A>C (p.Thr921Pro) c.*2403A>C (n.*2403A>C) n.2786A>C c.217A>C (p.Thr73Pro) c.2683A>C (p.Thr895Pro) c.655+2698A>C (n.655+2698A>C) c.1168-573A>C (n.1168-573A>C) c.2614A>C (p.Thr872Pro) c.2677A>C (p.Thr893Pro) c.2665A>C (p.Thr889Pro) | |
2 | g.144398501_144398505delinsAGTA | CA2586970076 | ZEB2 | c.*2531_*2535delinsTACT (n.*2531_*2535delinsTACT) c.1905_1909delinsTACT (p.Leu635PhefsTer?) c.2682_2686delinsTACT (p.Leu894PhefsTer?) n.2651_2655delinsTACT c.2346_2350delinsTACT (p.Leu782PhefsTer?) c.2757_2761delinsTACT (p.Leu919PhefsTer?) c.*2399_*2403delinsTACT (n.*2399_*2403delinsTACT) n.2782_2786delinsTACT c.213_217delinsTACT (p.Leu71PhefsTer?) c.2679_2683delinsTACT (p.Leu893PhefsTer?) c.655+2694_655+2698delinsTACT (n.655+2694_655+2698delinsTACT) c.1168-577_1168-573delinsTACT (n.1168-577_1168-573delinsTACT) c.2610_2614delinsTACT (p.Leu870PhefsTer?) c.2673_2677delinsTACT (p.Leu891PhefsTer?) c.2661_2665delinsTACT (p.Leu887PhefsTer?) | |
2 | g.144398502G>A | CA429445026 | ZEB2 | c.*2534C>T (n.*2534C>T) c.1908C>T (p.Tyr636=) c.2685C>T (p.Tyr895=) n.2654C>T c.2349C>T (p.Tyr783=) c.2760C>T (p.Tyr920=) c.*2402C>T (n.*2402C>T) n.2785C>T c.216C>T (p.Tyr72=) c.2682C>T (p.Tyr894=) c.655+2697C>T (n.655+2697C>T) c.1168-574C>T (n.1168-574C>T) c.2613C>T (p.Tyr871=) c.2676C>T (p.Tyr892=) c.2664C>T (p.Tyr888=) | gnomAD v4 |
2 | g.144398502G>C | CA348707404 | ZEB2 | c.*2534C>G (n.*2534C>G) c.1908C>G (p.Tyr636Ter) c.2685C>G (p.Tyr895Ter) n.2654C>G c.2349C>G (p.Tyr783Ter) c.2760C>G (p.Tyr920Ter) c.*2402C>G (n.*2402C>G) n.2785C>G c.216C>G (p.Tyr72Ter) c.2682C>G (p.Tyr894Ter) c.655+2697C>G (n.655+2697C>G) c.1168-574C>G (n.1168-574C>G) c.2613C>G (p.Tyr871Ter) c.2676C>G (p.Tyr892Ter) c.2664C>G (p.Tyr888Ter) | |
2 | g.144398502G>T | CA348707405 | ZEB2 | c.*2534C>A (n.*2534C>A) c.1908C>A (p.Tyr636Ter) c.2685C>A (p.Tyr895Ter) n.2654C>A c.2349C>A (p.Tyr783Ter) c.2760C>A (p.Tyr920Ter) c.*2402C>A (n.*2402C>A) n.2785C>A c.216C>A (p.Tyr72Ter) c.2682C>A (p.Tyr894Ter) c.655+2697C>A (n.655+2697C>A) c.1168-574C>A (n.1168-574C>A) c.2613C>A (p.Tyr871Ter) c.2676C>A (p.Tyr892Ter) c.2664C>A (p.Tyr888Ter) | |
2 | g.144398503T>A | CA348707408 | ZEB2 | c.*2533A>T (n.*2533A>T) c.1907A>T (p.Tyr636Phe) c.2684A>T (p.Tyr895Phe) n.2653A>T c.2348A>T (p.Tyr783Phe) c.2759A>T (p.Tyr920Phe) c.*2401A>T (n.*2401A>T) n.2784A>T c.215A>T (p.Tyr72Phe) c.2681A>T (p.Tyr894Phe) c.655+2696A>T (n.655+2696A>T) c.1168-575A>T (n.1168-575A>T) c.2612A>T (p.Tyr871Phe) c.2675A>T (p.Tyr892Phe) c.2663A>T (p.Tyr888Phe) | |
2 | g.144398503T>C | CA348707409 | ZEB2 | c.*2533A>G (n.*2533A>G) c.1907A>G (p.Tyr636Cys) c.2684A>G (p.Tyr895Cys) n.2653A>G c.2348A>G (p.Tyr783Cys) c.2759A>G (p.Tyr920Cys) c.*2401A>G (n.*2401A>G) n.2784A>G c.215A>G (p.Tyr72Cys) c.2681A>G (p.Tyr894Cys) c.655+2696A>G (n.655+2696A>G) c.1168-575A>G (n.1168-575A>G) c.2612A>G (p.Tyr871Cys) c.2675A>G (p.Tyr892Cys) c.2663A>G (p.Tyr888Cys) | gnomAD v4 |
2 | g.144398503T>G | CA348707411 | ZEB2 | c.*2533A>C (n.*2533A>C) c.1907A>C (p.Tyr636Ser) c.2684A>C (p.Tyr895Ser) n.2653A>C c.2348A>C (p.Tyr783Ser) c.2759A>C (p.Tyr920Ser) c.*2401A>C (n.*2401A>C) n.2784A>C c.215A>C (p.Tyr72Ser) c.2681A>C (p.Tyr894Ser) c.655+2696A>C (n.655+2696A>C) c.1168-575A>C (n.1168-575A>C) c.2612A>C (p.Tyr871Ser) c.2675A>C (p.Tyr892Ser) c.2663A>C (p.Tyr888Ser) | |
2 | g.144398504A>C | CA348707415 | ZEB2 | c.*2532T>G (n.*2532T>G) c.1906T>G (p.Tyr636Asp) c.2683T>G (p.Tyr895Asp) n.2652T>G c.2347T>G (p.Tyr783Asp) c.2758T>G (p.Tyr920Asp) c.*2400T>G (n.*2400T>G) n.2783T>G c.214T>G (p.Tyr72Asp) c.2680T>G (p.Tyr894Asp) c.655+2695T>G (n.655+2695T>G) c.1168-576T>G (n.1168-576T>G) c.2611T>G (p.Tyr871Asp) c.2674T>G (p.Tyr892Asp) c.2662T>G (p.Tyr888Asp) | |
2 | g.144398504A>G | CA348707413 | ZEB2 | c.*2532T>C (n.*2532T>C) c.1906T>C (p.Tyr636His) c.2683T>C (p.Tyr895His) n.2652T>C c.2347T>C (p.Tyr783His) c.2758T>C (p.Tyr920His) c.*2400T>C (n.*2400T>C) n.2783T>C c.214T>C (p.Tyr72His) c.2680T>C (p.Tyr894His) c.655+2695T>C (n.655+2695T>C) c.1168-576T>C (n.1168-576T>C) c.2611T>C (p.Tyr871His) c.2674T>C (p.Tyr892His) c.2662T>C (p.Tyr888His) | |
2 | g.144398504A>T | CA348707414 | ZEB2 | c.*2532T>A (n.*2532T>A) c.1906T>A (p.Tyr636Asn) c.2683T>A (p.Tyr895Asn) n.2652T>A c.2347T>A (p.Tyr783Asn) c.2758T>A (p.Tyr920Asn) c.*2400T>A (n.*2400T>A) n.2783T>A c.214T>A (p.Tyr72Asn) c.2680T>A (p.Tyr894Asn) c.655+2695T>A (n.655+2695T>A) c.1168-576T>A (n.1168-576T>A) c.2611T>A (p.Tyr871Asn) c.2674T>A (p.Tyr892Asn) c.2662T>A (p.Tyr888Asn) | |
2 | g.144398505del | CA2697551037 | ZEB2 | c.*2531del (n.*2531del) c.1905del (p.Leu635PhefsTer?) c.2682del (p.Leu894PhefsTer?) n.2651del c.2346del (p.Leu782PhefsTer?) c.2757del (p.Leu919PhefsTer?) c.*2399del (n.*2399del) n.2782del c.213del (p.Leu71PhefsTer?) c.2679del (p.Leu893PhefsTer?) c.655+2694del (n.655+2694del) c.1168-577del (n.1168-577del) c.2610del (p.Leu870PhefsTer?) c.2673del (p.Leu891PhefsTer?) c.2661del (p.Leu887PhefsTer?) | ClinVar |
2 | g.144398505T>A | CA348707417 | ZEB2 | c.*2531A>T (n.*2531A>T) c.1905A>T (p.Leu635Phe) c.2682A>T (p.Leu894Phe) n.2651A>T c.2346A>T (p.Leu782Phe) c.2757A>T (p.Leu919Phe) c.*2399A>T (n.*2399A>T) n.2782A>T c.213A>T (p.Leu71Phe) c.2679A>T (p.Leu893Phe) c.655+2694A>T (n.655+2694A>T) c.1168-577A>T (n.1168-577A>T) c.2610A>T (p.Leu870Phe) c.2673A>T (p.Leu891Phe) c.2661A>T (p.Leu887Phe) | |
2 | g.144398505T>C | CA429445031 | ZEB2 | c.*2531A>G (n.*2531A>G) c.1905A>G (p.Leu635=) c.2682A>G (p.Leu894=) n.2651A>G c.2346A>G (p.Leu782=) c.2757A>G (p.Leu919=) c.*2399A>G (n.*2399A>G) n.2782A>G c.213A>G (p.Leu71=) c.2679A>G (p.Leu893=) c.655+2694A>G (n.655+2694A>G) c.1168-577A>G (n.1168-577A>G) c.2610A>G (p.Leu870=) c.2673A>G (p.Leu891=) c.2661A>G (p.Leu887=) | dbSNP |
2 | g.144398505T>G | CA348707419 | ZEB2 | c.*2531A>C (n.*2531A>C) c.1905A>C (p.Leu635Phe) c.2682A>C (p.Leu894Phe) n.2651A>C c.2346A>C (p.Leu782Phe) c.2757A>C (p.Leu919Phe) c.*2399A>C (n.*2399A>C) n.2782A>C c.213A>C (p.Leu71Phe) c.2679A>C (p.Leu893Phe) c.655+2694A>C (n.655+2694A>C) c.1168-577A>C (n.1168-577A>C) c.2610A>C (p.Leu870Phe) c.2673A>C (p.Leu891Phe) c.2661A>C (p.Leu887Phe) | |
2 | g.144398505T= | CA1294884921 | ZEB2 | c.*2531A= (n.*2531A=) c.1905A= (p.Leu635=) c.2682A= (p.Leu894=) n.2651A= c.2346A= (p.Leu782=) c.2757A= (p.Leu919=) c.*2399A= (n.*2399A=) n.2782A= c.213A= (p.Leu71=) c.2679A= (p.Leu893=) c.655+2694A= (n.655+2694A=) c.1168-577A= (n.1168-577A=) c.2610A= (p.Leu870=) c.2673A= (p.Leu891=) c.2661A= (p.Leu887=) | |
2 | g.144398506A>C | CA348707422 | ZEB2 | c.*2530T>G (n.*2530T>G) c.1904T>G (p.Leu635Ter) c.2681T>G (p.Leu894Ter) n.2650T>G c.2345T>G (p.Leu782Ter) c.2756T>G (p.Leu919Ter) c.*2398T>G (n.*2398T>G) n.2781T>G c.212T>G (p.Leu71Ter) c.2678T>G (p.Leu893Ter) c.655+2693T>G (n.655+2693T>G) c.1168-578T>G (n.1168-578T>G) c.2609T>G (p.Leu870Ter) c.2672T>G (p.Leu891Ter) c.2660T>G (p.Leu887Ter) | |
2 | g.144398506A>G | CA348707424 | ZEB2 | c.*2530T>C (n.*2530T>C) c.1904T>C (p.Leu635Ser) c.2681T>C (p.Leu894Ser) n.2650T>C c.2345T>C (p.Leu782Ser) c.2756T>C (p.Leu919Ser) c.*2398T>C (n.*2398T>C) n.2781T>C c.212T>C (p.Leu71Ser) c.2678T>C (p.Leu893Ser) c.655+2693T>C (n.655+2693T>C) c.1168-578T>C (n.1168-578T>C) c.2609T>C (p.Leu870Ser) c.2672T>C (p.Leu891Ser) c.2660T>C (p.Leu887Ser) | |
2 | g.144398506A>T | CA348707426 | ZEB2 | c.*2530T>A (n.*2530T>A) c.1904T>A (p.Leu635Ter) c.2681T>A (p.Leu894Ter) n.2650T>A c.2345T>A (p.Leu782Ter) c.2756T>A (p.Leu919Ter) c.*2398T>A (n.*2398T>A) n.2781T>A c.212T>A (p.Leu71Ter) c.2678T>A (p.Leu893Ter) c.655+2693T>A (n.655+2693T>A) c.1168-578T>A (n.1168-578T>A) c.2609T>A (p.Leu870Ter) c.2672T>A (p.Leu891Ter) c.2660T>A (p.Leu887Ter) | |
2 | g.144398507A= | CA1294884922 | ZEB2 | c.*2529T= (n.*2529T=) c.1903T= (p.Leu635=) c.2680T= (p.Leu894=) n.2649T= c.2344T= (p.Leu782=) c.2755T= (p.Leu919=) c.*2397T= (n.*2397T=) n.2780T= c.211T= (p.Leu71=) c.2677T= (p.Leu893=) c.655+2692T= (n.655+2692T=) c.1168-579T= (n.1168-579T=) c.2608T= (p.Leu870=) c.2671T= (p.Leu891=) c.2659T= (p.Leu887=) | |
2 | g.144398507A>C | CA348707429 | ZEB2 | c.*2529T>G (n.*2529T>G) c.1903T>G (p.Leu635Val) c.2680T>G (p.Leu894Val) n.2649T>G c.2344T>G (p.Leu782Val) c.2755T>G (p.Leu919Val) c.*2397T>G (n.*2397T>G) n.2780T>G c.211T>G (p.Leu71Val) c.2677T>G (p.Leu893Val) c.655+2692T>G (n.655+2692T>G) c.1168-579T>G (n.1168-579T>G) c.2608T>G (p.Leu870Val) c.2671T>G (p.Leu891Val) c.2659T>G (p.Leu887Val) | |
2 | g.144398507A>G | CA429445033 | ZEB2 | c.*2529T>C (n.*2529T>C) c.1903T>C (p.Leu635=) c.2680T>C (p.Leu894=) n.2649T>C c.2344T>C (p.Leu782=) c.2755T>C (p.Leu919=) c.*2397T>C (n.*2397T>C) n.2780T>C c.211T>C (p.Leu71=) c.2677T>C (p.Leu893=) c.655+2692T>C (n.655+2692T>C) c.1168-579T>C (n.1168-579T>C) c.2608T>C (p.Leu870=) c.2671T>C (p.Leu891=) c.2659T>C (p.Leu887=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.144398507A>T | CA348707431 | ZEB2 | c.*2529T>A (n.*2529T>A) c.1903T>A (p.Leu635Ile) c.2680T>A (p.Leu894Ile) n.2649T>A c.2344T>A (p.Leu782Ile) c.2755T>A (p.Leu919Ile) c.*2397T>A (n.*2397T>A) n.2780T>A c.211T>A (p.Leu71Ile) c.2677T>A (p.Leu893Ile) c.655+2692T>A (n.655+2692T>A) c.1168-579T>A (n.1168-579T>A) c.2608T>A (p.Leu870Ile) c.2671T>A (p.Leu891Ile) c.2659T>A (p.Leu887Ile) | |
2 | g.144398508A= | CA1294884923 | ZEB2 | c.*2528T= (n.*2528T=) c.1902T= (p.Pro634=) c.2679T= (p.Pro893=) n.2648T= c.2343T= (p.Pro781=) c.2754T= (p.Pro918=) c.*2396T= (n.*2396T=) n.2779T= c.210T= (p.Pro70=) c.2676T= (p.Pro892=) c.655+2691T= (n.655+2691T=) c.1168-580T= (n.1168-580T=) c.2607T= (p.Pro869=) c.2670T= (p.Pro890=) c.2658T= (p.Pro886=) | |
2 | g.144398508A>C | CA429445034 | ZEB2 | c.*2528T>G (n.*2528T>G) c.1902T>G (p.Pro634=) c.2679T>G (p.Pro893=) n.2648T>G c.2343T>G (p.Pro781=) c.2754T>G (p.Pro918=) c.*2396T>G (n.*2396T>G) n.2779T>G c.210T>G (p.Pro70=) c.2676T>G (p.Pro892=) c.655+2691T>G (n.655+2691T>G) c.1168-580T>G (n.1168-580T>G) c.2607T>G (p.Pro869=) c.2670T>G (p.Pro890=) c.2658T>G (p.Pro886=) | |
2 | g.144398508A>G | CA429445035 | ZEB2 | c.*2528T>C (n.*2528T>C) c.1902T>C (p.Pro634=) c.2679T>C (p.Pro893=) n.2648T>C c.2343T>C (p.Pro781=) c.2754T>C (p.Pro918=) c.*2396T>C (n.*2396T>C) n.2779T>C c.210T>C (p.Pro70=) c.2676T>C (p.Pro892=) c.655+2691T>C (n.655+2691T>C) c.1168-580T>C (n.1168-580T>C) c.2607T>C (p.Pro869=) c.2670T>C (p.Pro890=) c.2658T>C (p.Pro886=) | |
2 | g.144398508A>T | CA1898221 | ZEB2 | c.*2528T>A (n.*2528T>A) c.1902T>A (p.Pro634=) c.2679T>A (p.Pro893=) n.2648T>A c.2343T>A (p.Pro781=) c.2754T>A (p.Pro918=) c.*2396T>A (n.*2396T>A) n.2779T>A c.210T>A (p.Pro70=) c.2676T>A (p.Pro892=) c.655+2691T>A (n.655+2691T>A) c.1168-580T>A (n.1168-580T>A) c.2607T>A (p.Pro869=) c.2670T>A (p.Pro890=) c.2658T>A (p.Pro886=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.144398508_144398515delinsAGGTTTGG | CA1294884924 | ZEB2 | c.*2521_*2528delinsCCAAACCT (n.*2521_*2528delinsCCAAACCT) c.1895_1902delinsCCAAACCT (p.Ala632=) c.2672_2679delinsCCAAACCT (p.Ala891=) n.2641_2648delinsCCAAACCT c.2336_2343delinsCCAAACCT (p.Ala779=) c.2747_2754delinsCCAAACCT (p.Ala916=) c.*2389_*2396delinsCCAAACCT (n.*2389_*2396delinsCCAAACCT) n.2772_2779delinsCCAAACCT c.203_210delinsCCAAACCT (p.Ala68=) c.2669_2676delinsCCAAACCT (p.Ala890=) c.655+2684_655+2691delinsCCAAACCT (n.655+2684_655+2691delinsCCAAACCT) c.1168-587_1168-580delinsCCAAACCT (n.1168-587_1168-580delinsCCAAACCT) c.2600_2607delinsCCAAACCT (p.Ala867=) c.2663_2670delinsCCAAACCT (p.Ala888=) c.2651_2658delinsCCAAACCT (p.Ala884=) | |
2 | g.144398509G>A | CA348707437 | ZEB2 | c.*2527C>T (n.*2527C>T) c.1901C>T (p.Pro634Leu) c.2678C>T (p.Pro893Leu) n.2647C>T c.2342C>T (p.Pro781Leu) c.2753C>T (p.Pro918Leu) c.*2395C>T (n.*2395C>T) n.2778C>T c.209C>T (p.Pro70Leu) c.2675C>T (p.Pro892Leu) c.655+2690C>T (n.655+2690C>T) c.1168-581C>T (n.1168-581C>T) c.2606C>T (p.Pro869Leu) c.2669C>T (p.Pro890Leu) c.2657C>T (p.Pro886Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.144398509G>C | CA348707439 | ZEB2 | c.*2527C>G (n.*2527C>G) c.1901C>G (p.Pro634Arg) c.2678C>G (p.Pro893Arg) n.2647C>G c.2342C>G (p.Pro781Arg) c.2753C>G (p.Pro918Arg) c.*2395C>G (n.*2395C>G) n.2778C>G c.209C>G (p.Pro70Arg) c.2675C>G (p.Pro892Arg) c.655+2690C>G (n.655+2690C>G) c.1168-581C>G (n.1168-581C>G) c.2606C>G (p.Pro869Arg) c.2669C>G (p.Pro890Arg) c.2657C>G (p.Pro886Arg) | dbSNP gnomAD v4 |
2 | g.144398509G= | CA1294884925 | ZEB2 | c.*2527C= (n.*2527C=) c.1901C= (p.Pro634=) c.2678C= (p.Pro893=) n.2647C= c.2342C= (p.Pro781=) c.2753C= (p.Pro918=) c.*2395C= (n.*2395C=) n.2778C= c.209C= (p.Pro70=) c.2675C= (p.Pro892=) c.655+2690C= (n.655+2690C=) c.1168-581C= (n.1168-581C=) c.2606C= (p.Pro869=) c.2669C= (p.Pro890=) c.2657C= (p.Pro886=) | |
2 | g.144398509G>T | CA348707441 | ZEB2 | c.*2527C>A (n.*2527C>A) c.1901C>A (p.Pro634His) c.2678C>A (p.Pro893His) n.2647C>A c.2342C>A (p.Pro781His) c.2753C>A (p.Pro918His) c.*2395C>A (n.*2395C>A) n.2778C>A c.209C>A (p.Pro70His) c.2675C>A (p.Pro892His) c.655+2690C>A (n.655+2690C>A) c.1168-581C>A (n.1168-581C>A) c.2606C>A (p.Pro869His) c.2669C>A (p.Pro890His) c.2657C>A (p.Pro886His) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.144398510del | CA2586970078 | ZEB2 | c.*2527del (n.*2527del) c.1901del (p.Pro634LeufsTer?) c.2678del (p.Pro893LeufsTer?) n.2647del c.2342del (p.Pro781LeufsTer?) c.2753del (p.Pro918LeufsTer?) c.*2395del (n.*2395del) n.2778del c.209del (p.Pro70LeufsTer?) c.2675del (p.Pro892LeufsTer?) c.655+2690del (n.655+2690del) c.1168-581del (n.1168-581del) c.2606del (p.Pro869LeufsTer?) c.2669del (p.Pro890LeufsTer?) c.2657del (p.Pro886LeufsTer?) | |
2 | g.144398509_144398515del | CA10583992 | ZEB2 | c.*2521_*2527del (n.*2521_*2527del) c.1895_1901del (p.Ala632ValfsTer?) c.2672_2678del (p.Ala891ValfsTer?) n.2641_2647del c.2336_2342del (p.Ala779ValfsTer?) c.2747_2753del (p.Ala916ValfsTer?) c.*2389_*2395del (n.*2389_*2395del) n.2772_2778del c.203_209del (p.Ala68ValfsTer?) c.2669_2675del (p.Ala890ValfsTer?) c.655+2684_655+2690del (n.655+2684_655+2690del) c.1168-587_1168-581del (n.1168-587_1168-581del) c.2600_2606del (p.Ala867ValfsTer?) c.2663_2669del (p.Ala888ValfsTer?) c.2651_2657del (p.Ala884ValfsTer?) | ClinVar dbSNP |
2 | g.144398511_144398515del | CA429445038 | ZEB2 | c.*2523_*2527del (n.*2523_*2527del) c.1897_1901del (p.Lys633PhefsTer?) c.2674_2678del (p.Lys892PhefsTer?) n.2643_2647del c.2338_2342del (p.Lys780PhefsTer?) c.2749_2753del (p.Lys917PhefsTer?) c.*2391_*2395del (n.*2391_*2395del) n.2774_2778del c.205_209del (p.Lys69PhefsTer?) c.2671_2675del (p.Lys891PhefsTer?) c.655+2686_655+2690del (n.655+2686_655+2690del) c.1168-585_1168-581del (n.1168-585_1168-581del) c.2602_2606del (p.Lys868PhefsTer?) c.2665_2669del (p.Lys889PhefsTer?) c.2653_2657del (p.Lys885PhefsTer?) | |
2 | g.144398510_144398515del | CA2586970077 | ZEB2 | c.*2522_*2527del (n.*2522_*2527del) c.1896_1901del (p.Lys633_Pro634del) c.2673_2678del (p.Lys892_Pro893del) n.2642_2647del c.2337_2342del (p.Lys780_Pro781del) c.2748_2753del (p.Lys917_Pro918del) c.*2390_*2395del (n.*2390_*2395del) n.2773_2778del c.204_209del (p.Lys69_Pro70del) c.2670_2675del (p.Lys891_Pro892del) c.655+2685_655+2690del (n.655+2685_655+2690del) c.1168-586_1168-581del (n.1168-586_1168-581del) c.2601_2606del (p.Lys868_Pro869del) c.2664_2669del (p.Lys889_Pro890del) c.2652_2657del (p.Lys885_Pro886del) | |
2 | g.144398510G>A | CA348707447 | ZEB2 | c.*2526C>T (n.*2526C>T) c.1900C>T (p.Pro634Ser) c.2677C>T (p.Pro893Ser) n.2646C>T c.2341C>T (p.Pro781Ser) c.2752C>T (p.Pro918Ser) c.*2394C>T (n.*2394C>T) n.2777C>T c.208C>T (p.Pro70Ser) c.2674C>T (p.Pro892Ser) c.655+2689C>T (n.655+2689C>T) c.1168-582C>T (n.1168-582C>T) c.2605C>T (p.Pro869Ser) c.2668C>T (p.Pro890Ser) c.2656C>T (p.Pro886Ser) | ClinVar COSMIC |
2 | g.144398510G>C | CA348707449 | ZEB2 | c.*2526C>G (n.*2526C>G) c.1900C>G (p.Pro634Ala) c.2677C>G (p.Pro893Ala) n.2646C>G c.2341C>G (p.Pro781Ala) c.2752C>G (p.Pro918Ala) c.*2394C>G (n.*2394C>G) n.2777C>G c.208C>G (p.Pro70Ala) c.2674C>G (p.Pro892Ala) c.655+2689C>G (n.655+2689C>G) c.1168-582C>G (n.1168-582C>G) c.2605C>G (p.Pro869Ala) c.2668C>G (p.Pro890Ala) c.2656C>G (p.Pro886Ala) | COSMIC |
2 | g.144398510G>T | CA348707445 | ZEB2 | c.*2526C>A (n.*2526C>A) c.1900C>A (p.Pro634Thr) c.2677C>A (p.Pro893Thr) n.2646C>A c.2341C>A (p.Pro781Thr) c.2752C>A (p.Pro918Thr) c.*2394C>A (n.*2394C>A) n.2777C>A c.208C>A (p.Pro70Thr) c.2674C>A (p.Pro892Thr) c.655+2689C>A (n.655+2689C>A) c.1168-582C>A (n.1168-582C>A) c.2605C>A (p.Pro869Thr) c.2668C>A (p.Pro890Thr) c.2656C>A (p.Pro886Thr) | ClinVar |
2 | g.144398510_144398517del | CA2586970079 | ZEB2 | c.*2519_*2526del (n.*2519_*2526del) c.1893_1900del (p.Ala632PhefsTer?) c.2670_2677del (p.Ala891PhefsTer?) n.2639_2646del c.2334_2341del (p.Ala779PhefsTer?) c.2745_2752del (p.Ala916PhefsTer?) c.*2387_*2394del (n.*2387_*2394del) n.2770_2777del c.201_208del (p.Ala68PhefsTer?) c.2667_2674del (p.Ala890PhefsTer?) c.655+2682_655+2689del (n.655+2682_655+2689del) c.1168-589_1168-582del (n.1168-589_1168-582del) c.2598_2605del (p.Ala867PhefsTer?) c.2661_2668del (p.Ala888PhefsTer?) c.2649_2656del (p.Ala884PhefsTer?) | |
2 | g.144398511T>A | CA348707452 | ZEB2 | c.*2525A>T (n.*2525A>T) c.1899A>T (p.Lys633Asn) c.2676A>T (p.Lys892Asn) n.2645A>T c.2340A>T (p.Lys780Asn) c.2751A>T (p.Lys917Asn) c.*2393A>T (n.*2393A>T) n.2776A>T c.207A>T (p.Lys69Asn) c.2673A>T (p.Lys891Asn) c.655+2688A>T (n.655+2688A>T) c.1168-583A>T (n.1168-583A>T) c.2604A>T (p.Lys868Asn) c.2667A>T (p.Lys889Asn) c.2655A>T (p.Lys885Asn) | |
2 | g.144398511T>C | CA429445039 | ZEB2 | c.*2525A>G (n.*2525A>G) c.1899A>G (p.Lys633=) c.2676A>G (p.Lys892=) n.2645A>G c.2340A>G (p.Lys780=) c.2751A>G (p.Lys917=) c.*2393A>G (n.*2393A>G) n.2776A>G c.207A>G (p.Lys69=) c.2673A>G (p.Lys891=) c.655+2688A>G (n.655+2688A>G) c.1168-583A>G (n.1168-583A>G) c.2604A>G (p.Lys868=) c.2667A>G (p.Lys889=) c.2655A>G (p.Lys885=) | |
2 | g.144398511T>G | CA348707454 | ZEB2 | c.*2525A>C (n.*2525A>C) c.1899A>C (p.Lys633Asn) c.2676A>C (p.Lys892Asn) n.2645A>C c.2340A>C (p.Lys780Asn) c.2751A>C (p.Lys917Asn) c.*2393A>C (n.*2393A>C) n.2776A>C c.207A>C (p.Lys69Asn) c.2673A>C (p.Lys891Asn) c.655+2688A>C (n.655+2688A>C) c.1168-583A>C (n.1168-583A>C) c.2604A>C (p.Lys868Asn) c.2667A>C (p.Lys889Asn) c.2655A>C (p.Lys885Asn) | |
2 | g.144398512_144398531dup | CA2586970080 | ZEB2 | c.*2506_*2525dup (n.*2506_*2525dup) c.1880_1899dup (p.Pro634Ter) c.2657_2676dup (p.Pro893Ter) n.2626_2645dup c.2321_2340dup (p.Pro781Ter) c.2732_2751dup (p.Pro918Ter) c.*2374_*2393dup (n.*2374_*2393dup) n.2757_2776dup c.188_207dup (p.Pro70Ter) c.2654_2673dup (p.Pro892Ter) c.655+2669_655+2688dup (n.655+2669_655+2688dup) c.1168-602_1168-583dup (n.1168-602_1168-583dup) c.2585_2604dup (p.Pro869Ter) c.2648_2667dup (p.Pro890Ter) c.2636_2655dup (p.Pro886Ter) | |
2 | g.144398512T>A | CA348707457 | ZEB2 | c.*2524A>T (n.*2524A>T) c.1898A>T (p.Lys633Ile) c.2675A>T (p.Lys892Ile) n.2644A>T c.2339A>T (p.Lys780Ile) c.2750A>T (p.Lys917Ile) c.*2392A>T (n.*2392A>T) n.2775A>T c.206A>T (p.Lys69Ile) c.2672A>T (p.Lys891Ile) c.655+2687A>T (n.655+2687A>T) c.1168-584A>T (n.1168-584A>T) c.2603A>T (p.Lys868Ile) c.2666A>T (p.Lys889Ile) c.2654A>T (p.Lys885Ile) | |
2 | g.144398512T>C | CA348707459 | ZEB2 | c.*2524A>G (n.*2524A>G) c.1898A>G (p.Lys633Arg) c.2675A>G (p.Lys892Arg) n.2644A>G c.2339A>G (p.Lys780Arg) c.2750A>G (p.Lys917Arg) c.*2392A>G (n.*2392A>G) n.2775A>G c.206A>G (p.Lys69Arg) c.2672A>G (p.Lys891Arg) c.655+2687A>G (n.655+2687A>G) c.1168-584A>G (n.1168-584A>G) c.2603A>G (p.Lys868Arg) c.2666A>G (p.Lys889Arg) c.2654A>G (p.Lys885Arg) | gnomAD v4 |
2 | g.144398512T>G | CA348707462 | ZEB2 | c.*2524A>C (n.*2524A>C) c.1898A>C (p.Lys633Thr) c.2675A>C (p.Lys892Thr) n.2644A>C c.2339A>C (p.Lys780Thr) c.2750A>C (p.Lys917Thr) c.*2392A>C (n.*2392A>C) n.2775A>C c.206A>C (p.Lys69Thr) c.2672A>C (p.Lys891Thr) c.655+2687A>C (n.655+2687A>C) c.1168-584A>C (n.1168-584A>C) c.2603A>C (p.Lys868Thr) c.2666A>C (p.Lys889Thr) c.2654A>C (p.Lys885Thr) | |
2 | g.144398513T>A | CA348707465 | ZEB2 | c.*2523A>T (n.*2523A>T) c.1897A>T (p.Lys633Ter) c.2674A>T (p.Lys892Ter) n.2643A>T c.2338A>T (p.Lys780Ter) c.2749A>T (p.Lys917Ter) c.*2391A>T (n.*2391A>T) n.2774A>T c.205A>T (p.Lys69Ter) c.2671A>T (p.Lys891Ter) c.655+2686A>T (n.655+2686A>T) c.1168-585A>T (n.1168-585A>T) c.2602A>T (p.Lys868Ter) c.2665A>T (p.Lys889Ter) c.2653A>T (p.Lys885Ter) | COSMIC |
2 | g.144398513T>C | CA348707466 | ZEB2 | c.*2523A>G (n.*2523A>G) c.1897A>G (p.Lys633Glu) c.2674A>G (p.Lys892Glu) n.2643A>G c.2338A>G (p.Lys780Glu) c.2749A>G (p.Lys917Glu) c.*2391A>G (n.*2391A>G) n.2774A>G c.205A>G (p.Lys69Glu) c.2671A>G (p.Lys891Glu) c.655+2686A>G (n.655+2686A>G) c.1168-585A>G (n.1168-585A>G) c.2602A>G (p.Lys868Glu) c.2665A>G (p.Lys889Glu) c.2653A>G (p.Lys885Glu) | |
2 | g.144398513T>G | CA348707468 | ZEB2 | c.*2523A>C (n.*2523A>C) c.1897A>C (p.Lys633Gln) c.2674A>C (p.Lys892Gln) n.2643A>C c.2338A>C (p.Lys780Gln) c.2749A>C (p.Lys917Gln) c.*2391A>C (n.*2391A>C) n.2774A>C c.205A>C (p.Lys69Gln) c.2671A>C (p.Lys891Gln) c.655+2686A>C (n.655+2686A>C) c.1168-585A>C (n.1168-585A>C) c.2602A>C (p.Lys868Gln) c.2665A>C (p.Lys889Gln) c.2653A>C (p.Lys885Gln) | |
2 | g.144398514G>A | CA429445046 | ZEB2 | c.*2522C>T (n.*2522C>T) c.1896C>T (p.Ala632=) c.2673C>T (p.Ala891=) n.2642C>T c.2337C>T (p.Ala779=) c.2748C>T (p.Ala916=) c.*2390C>T (n.*2390C>T) n.2773C>T c.204C>T (p.Ala68=) c.2670C>T (p.Ala890=) c.655+2685C>T (n.655+2685C>T) c.1168-586C>T (n.1168-586C>T) c.2601C>T (p.Ala867=) c.2664C>T (p.Ala888=) c.2652C>T (p.Ala884=) | |
2 | g.144398514G>C | CA429445044 | ZEB2 | c.*2522C>G (n.*2522C>G) c.1896C>G (p.Ala632=) c.2673C>G (p.Ala891=) n.2642C>G c.2337C>G (p.Ala779=) c.2748C>G (p.Ala916=) c.*2390C>G (n.*2390C>G) n.2773C>G c.204C>G (p.Ala68=) c.2670C>G (p.Ala890=) c.655+2685C>G (n.655+2685C>G) c.1168-586C>G (n.1168-586C>G) c.2601C>G (p.Ala867=) c.2664C>G (p.Ala888=) c.2652C>G (p.Ala884=) | |
2 | g.144398514G>T | CA429445045 | ZEB2 | c.*2522C>A (n.*2522C>A) c.1896C>A (p.Ala632=) c.2673C>A (p.Ala891=) n.2642C>A c.2337C>A (p.Ala779=) c.2748C>A (p.Ala916=) c.*2390C>A (n.*2390C>A) n.2773C>A c.204C>A (p.Ala68=) c.2670C>A (p.Ala890=) c.655+2685C>A (n.655+2685C>A) c.1168-586C>A (n.1168-586C>A) c.2601C>A (p.Ala867=) c.2664C>A (p.Ala888=) c.2652C>A (p.Ala884=) | |
2 | g.144398515G>A | CA57554852 | ZEB2 | c.*2521C>T (n.*2521C>T) c.1895C>T (p.Ala632Val) c.2672C>T (p.Ala891Val) n.2641C>T c.2336C>T (p.Ala779Val) c.2747C>T (p.Ala916Val) c.*2389C>T (n.*2389C>T) n.2772C>T c.203C>T (p.Ala68Val) c.2669C>T (p.Ala890Val) c.655+2684C>T (n.655+2684C>T) c.1168-587C>T (n.1168-587C>T) c.2600C>T (p.Ala867Val) c.2663C>T (p.Ala888Val) c.2651C>T (p.Ala884Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.144398515G>C | CA348707472 | ZEB2 | c.*2521C>G (n.*2521C>G) c.1895C>G (p.Ala632Gly) c.2672C>G (p.Ala891Gly) n.2641C>G c.2336C>G (p.Ala779Gly) c.2747C>G (p.Ala916Gly) c.*2389C>G (n.*2389C>G) n.2772C>G c.203C>G (p.Ala68Gly) c.2669C>G (p.Ala890Gly) c.655+2684C>G (n.655+2684C>G) c.1168-587C>G (n.1168-587C>G) c.2600C>G (p.Ala867Gly) c.2663C>G (p.Ala888Gly) c.2651C>G (p.Ala884Gly) | ClinVar dbSNP gnomAD v4 |
2 | g.144398515G= | CA1294884926 | ZEB2 | c.*2521C= (n.*2521C=) c.1895C= (p.Ala632=) c.2672C= (p.Ala891=) n.2641C= c.2336C= (p.Ala779=) c.2747C= (p.Ala916=) c.*2389C= (n.*2389C=) n.2772C= c.203C= (p.Ala68=) c.2669C= (p.Ala890=) c.655+2684C= (n.655+2684C=) c.1168-587C= (n.1168-587C=) c.2600C= (p.Ala867=) c.2663C= (p.Ala888=) c.2651C= (p.Ala884=) | |
2 | g.144398515G>T | CA348707474 | ZEB2 | c.*2521C>A (n.*2521C>A) c.1895C>A (p.Ala632Asp) c.2672C>A (p.Ala891Asp) n.2641C>A c.2336C>A (p.Ala779Asp) c.2747C>A (p.Ala916Asp) c.*2389C>A (n.*2389C>A) n.2772C>A c.203C>A (p.Ala68Asp) c.2669C>A (p.Ala890Asp) c.655+2684C>A (n.655+2684C>A) c.1168-587C>A (n.1168-587C>A) c.2600C>A (p.Ala867Asp) c.2663C>A (p.Ala888Asp) c.2651C>A (p.Ala884Asp) | |
2 | g.144398516C>A | CA348707479 | ZEB2 | c.*2520G>T (n.*2520G>T) c.1894G>T (p.Ala632Ser) c.2671G>T (p.Ala891Ser) n.2640G>T c.2335G>T (p.Ala779Ser) c.2746G>T (p.Ala916Ser) c.*2388G>T (n.*2388G>T) n.2771G>T c.202G>T (p.Ala68Ser) c.2668G>T (p.Ala890Ser) c.655+2683G>T (n.655+2683G>T) c.1168-588G>T (n.1168-588G>T) c.2599G>T (p.Ala867Ser) c.2662G>T (p.Ala888Ser) c.2650G>T (p.Ala884Ser) | |
2 | g.144398516C>G | CA348707480 | ZEB2 | c.*2520G>C (n.*2520G>C) c.1894G>C (p.Ala632Pro) c.2671G>C (p.Ala891Pro) n.2640G>C c.2335G>C (p.Ala779Pro) c.2746G>C (p.Ala916Pro) c.*2388G>C (n.*2388G>C) n.2771G>C c.202G>C (p.Ala68Pro) c.2668G>C (p.Ala890Pro) c.655+2683G>C (n.655+2683G>C) c.1168-588G>C (n.1168-588G>C) c.2599G>C (p.Ala867Pro) c.2662G>C (p.Ala888Pro) c.2650G>C (p.Ala884Pro) | |
2 | g.144398516C>T | CA348707483 | ZEB2 | c.*2520G>A (n.*2520G>A) c.1894G>A (p.Ala632Thr) c.2671G>A (p.Ala891Thr) n.2640G>A c.2335G>A (p.Ala779Thr) c.2746G>A (p.Ala916Thr) c.*2388G>A (n.*2388G>A) n.2771G>A c.202G>A (p.Ala68Thr) c.2668G>A (p.Ala890Thr) c.655+2683G>A (n.655+2683G>A) c.1168-588G>A (n.1168-588G>A) c.2599G>A (p.Ala867Thr) c.2662G>A (p.Ala888Thr) c.2650G>A (p.Ala884Thr) | |
2 | g.144398517A>C | CA348707486 | ZEB2 | c.*2519T>G (n.*2519T>G) c.1893T>G (p.Ser631Arg) c.2670T>G (p.Ser890Arg) n.2639T>G c.2334T>G (p.Ser778Arg) c.2745T>G (p.Ser915Arg) c.*2387T>G (n.*2387T>G) n.2770T>G c.201T>G (p.Ser67Arg) c.2667T>G (p.Ser889Arg) c.655+2682T>G (n.655+2682T>G) c.1168-589T>G (n.1168-589T>G) c.2598T>G (p.Ser866Arg) c.2661T>G (p.Ser887Arg) c.2649T>G (p.Ser883Arg) | |
2 | g.144398517A>G | CA429445050 | ZEB2 | c.*2519T>C (n.*2519T>C) c.1893T>C (p.Ser631=) c.2670T>C (p.Ser890=) n.2639T>C c.2334T>C (p.Ser778=) c.2745T>C (p.Ser915=) c.*2387T>C (n.*2387T>C) n.2770T>C c.201T>C (p.Ser67=) c.2667T>C (p.Ser889=) c.655+2682T>C (n.655+2682T>C) c.1168-589T>C (n.1168-589T>C) c.2598T>C (p.Ser866=) c.2661T>C (p.Ser887=) c.2649T>C (p.Ser883=) | |
2 | g.144398517A>T | CA348707488 | ZEB2 | c.*2519T>A (n.*2519T>A) c.1893T>A (p.Ser631Arg) c.2670T>A (p.Ser890Arg) n.2639T>A c.2334T>A (p.Ser778Arg) c.2745T>A (p.Ser915Arg) c.*2387T>A (n.*2387T>A) n.2770T>A c.201T>A (p.Ser67Arg) c.2667T>A (p.Ser889Arg) c.655+2682T>A (n.655+2682T>A) c.1168-589T>A (n.1168-589T>A) c.2598T>A (p.Ser866Arg) c.2661T>A (p.Ser887Arg) c.2649T>A (p.Ser883Arg) | |
2 | g.144398518C>A | CA348707491 | ZEB2 | c.*2518G>T (n.*2518G>T) c.1892G>T (p.Ser631Ile) c.2669G>T (p.Ser890Ile) n.2638G>T c.2333G>T (p.Ser778Ile) c.2744G>T (p.Ser915Ile) c.*2386G>T (n.*2386G>T) n.2769G>T c.200G>T (p.Ser67Ile) c.2666G>T (p.Ser889Ile) c.655+2681G>T (n.655+2681G>T) c.1168-590G>T (n.1168-590G>T) c.2597G>T (p.Ser866Ile) c.2660G>T (p.Ser887Ile) c.2648G>T (p.Ser883Ile) | |
2 | g.144398518C>G | CA348707493 | ZEB2 | c.*2518G>C (n.*2518G>C) c.1892G>C (p.Ser631Thr) c.2669G>C (p.Ser890Thr) n.2638G>C c.2333G>C (p.Ser778Thr) c.2744G>C (p.Ser915Thr) c.*2386G>C (n.*2386G>C) n.2769G>C c.200G>C (p.Ser67Thr) c.2666G>C (p.Ser889Thr) c.655+2681G>C (n.655+2681G>C) c.1168-590G>C (n.1168-590G>C) c.2597G>C (p.Ser866Thr) c.2660G>C (p.Ser887Thr) c.2648G>C (p.Ser883Thr) | |
2 | g.144398518C>T | CA348707494 | ZEB2 | c.*2518G>A (n.*2518G>A) c.1892G>A (p.Ser631Asn) c.2669G>A (p.Ser890Asn) n.2638G>A c.2333G>A (p.Ser778Asn) c.2744G>A (p.Ser915Asn) c.*2386G>A (n.*2386G>A) n.2769G>A c.200G>A (p.Ser67Asn) c.2666G>A (p.Ser889Asn) c.655+2681G>A (n.655+2681G>A) c.1168-590G>A (n.1168-590G>A) c.2597G>A (p.Ser866Asn) c.2660G>A (p.Ser887Asn) c.2648G>A (p.Ser883Asn) | |
2 | g.144398519T>A | CA348707497 | ZEB2 | c.*2517A>T (n.*2517A>T) c.1891A>T (p.Ser631Cys) c.2668A>T (p.Ser890Cys) n.2637A>T c.2332A>T (p.Ser778Cys) c.2743A>T (p.Ser915Cys) c.*2385A>T (n.*2385A>T) n.2768A>T c.199A>T (p.Ser67Cys) c.2665A>T (p.Ser889Cys) c.655+2680A>T (n.655+2680A>T) c.1168-591A>T (n.1168-591A>T) c.2596A>T (p.Ser866Cys) c.2659A>T (p.Ser887Cys) c.2647A>T (p.Ser883Cys) | |
2 | g.144398519T>C | CA348707499 | ZEB2 | c.*2517A>G (n.*2517A>G) c.1891A>G (p.Ser631Gly) c.2668A>G (p.Ser890Gly) n.2637A>G c.2332A>G (p.Ser778Gly) c.2743A>G (p.Ser915Gly) c.*2385A>G (n.*2385A>G) n.2768A>G c.199A>G (p.Ser67Gly) c.2665A>G (p.Ser889Gly) c.655+2680A>G (n.655+2680A>G) c.1168-591A>G (n.1168-591A>G) c.2596A>G (p.Ser866Gly) c.2659A>G (p.Ser887Gly) c.2647A>G (p.Ser883Gly) | |
2 | g.144398519T>G | CA348707502 | ZEB2 | c.*2517A>C (n.*2517A>C) c.1891A>C (p.Ser631Arg) c.2668A>C (p.Ser890Arg) n.2637A>C c.2332A>C (p.Ser778Arg) c.2743A>C (p.Ser915Arg) c.*2385A>C (n.*2385A>C) n.2768A>C c.199A>C (p.Ser67Arg) c.2665A>C (p.Ser889Arg) c.655+2680A>C (n.655+2680A>C) c.1168-591A>C (n.1168-591A>C) c.2596A>C (p.Ser866Arg) c.2659A>C (p.Ser887Arg) c.2647A>C (p.Ser883Arg) | |
2 | g.144398520A>C | CA348707505 | ZEB2 | c.*2516T>G (n.*2516T>G) c.1890T>G (p.Phe630Leu) c.2667T>G (p.Phe889Leu) n.2636T>G c.2331T>G (p.Phe777Leu) c.2742T>G (p.Phe914Leu) c.*2384T>G (n.*2384T>G) n.2767T>G c.198T>G (p.Phe66Leu) c.2664T>G (p.Phe888Leu) c.655+2679T>G (n.655+2679T>G) c.1168-592T>G (n.1168-592T>G) c.2595T>G (p.Phe865Leu) c.2658T>G (p.Phe886Leu) c.2646T>G (p.Phe882Leu) | |
2 | g.144398520A>G | CA429445056 | ZEB2 | c.*2516T>C (n.*2516T>C) c.1890T>C (p.Phe630=) c.2667T>C (p.Phe889=) n.2636T>C c.2331T>C (p.Phe777=) c.2742T>C (p.Phe914=) c.*2384T>C (n.*2384T>C) n.2767T>C c.198T>C (p.Phe66=) c.2664T>C (p.Phe888=) c.655+2679T>C (n.655+2679T>C) c.1168-592T>C (n.1168-592T>C) c.2595T>C (p.Phe865=) c.2658T>C (p.Phe886=) c.2646T>C (p.Phe882=) | |
2 | g.144398520A>T | CA348707507 | ZEB2 | c.*2516T>A (n.*2516T>A) c.1890T>A (p.Phe630Leu) c.2667T>A (p.Phe889Leu) n.2636T>A c.2331T>A (p.Phe777Leu) c.2742T>A (p.Phe914Leu) c.*2384T>A (n.*2384T>A) n.2767T>A c.198T>A (p.Phe66Leu) c.2664T>A (p.Phe888Leu) c.655+2679T>A (n.655+2679T>A) c.1168-592T>A (n.1168-592T>A) c.2595T>A (p.Phe865Leu) c.2658T>A (p.Phe886Leu) c.2646T>A (p.Phe882Leu) | |
2 | g.144398521A>C | CA348707510 | ZEB2 | c.*2515T>G (n.*2515T>G) c.1889T>G (p.Phe630Cys) c.2666T>G (p.Phe889Cys) n.2635T>G c.2330T>G (p.Phe777Cys) c.2741T>G (p.Phe914Cys) c.*2383T>G (n.*2383T>G) n.2766T>G c.197T>G (p.Phe66Cys) c.2663T>G (p.Phe888Cys) c.655+2678T>G (n.655+2678T>G) c.1168-593T>G (n.1168-593T>G) c.2594T>G (p.Phe865Cys) c.2657T>G (p.Phe886Cys) c.2645T>G (p.Phe882Cys) | |
2 | g.144398521A>G | CA348707512 | ZEB2 | c.*2515T>C (n.*2515T>C) c.1889T>C (p.Phe630Ser) c.2666T>C (p.Phe889Ser) n.2635T>C c.2330T>C (p.Phe777Ser) c.2741T>C (p.Phe914Ser) c.*2383T>C (n.*2383T>C) n.2766T>C c.197T>C (p.Phe66Ser) c.2663T>C (p.Phe888Ser) c.655+2678T>C (n.655+2678T>C) c.1168-593T>C (n.1168-593T>C) c.2594T>C (p.Phe865Ser) c.2657T>C (p.Phe886Ser) c.2645T>C (p.Phe882Ser) | |
2 | g.144398521A>T | CA348707514 | ZEB2 | c.*2515T>A (n.*2515T>A) c.1889T>A (p.Phe630Tyr) c.2666T>A (p.Phe889Tyr) n.2635T>A c.2330T>A (p.Phe777Tyr) c.2741T>A (p.Phe914Tyr) c.*2383T>A (n.*2383T>A) n.2766T>A c.197T>A (p.Phe66Tyr) c.2663T>A (p.Phe888Tyr) c.655+2678T>A (n.655+2678T>A) c.1168-593T>A (n.1168-593T>A) c.2594T>A (p.Phe865Tyr) c.2657T>A (p.Phe886Tyr) c.2645T>A (p.Phe882Tyr) | |
2 | g.144398522A= | CA1294884927 | ZEB2 | c.*2514T= (n.*2514T=) c.1888T= (p.Phe630=) c.2665T= (p.Phe889=) n.2634T= c.2329T= (p.Phe777=) c.2740T= (p.Phe914=) c.*2382T= (n.*2382T=) n.2765T= c.196T= (p.Phe66=) c.2662T= (p.Phe888=) c.655+2677T= (n.655+2677T=) c.1168-594T= (n.1168-594T=) c.2593T= (p.Phe865=) c.2656T= (p.Phe886=) c.2644T= (p.Phe882=) | |
2 | g.144398522A>C | CA348707517 | ZEB2 | c.*2514T>G (n.*2514T>G) c.1888T>G (p.Phe630Val) c.2665T>G (p.Phe889Val) n.2634T>G c.2329T>G (p.Phe777Val) c.2740T>G (p.Phe914Val) c.*2382T>G (n.*2382T>G) n.2765T>G c.196T>G (p.Phe66Val) c.2662T>G (p.Phe888Val) c.655+2677T>G (n.655+2677T>G) c.1168-594T>G (n.1168-594T>G) c.2593T>G (p.Phe865Val) c.2656T>G (p.Phe886Val) c.2644T>G (p.Phe882Val) | |
2 | g.144398522A>G | CA57554856 | ZEB2 | c.*2514T>C (n.*2514T>C) c.1888T>C (p.Phe630Leu) c.2665T>C (p.Phe889Leu) n.2634T>C c.2329T>C (p.Phe777Leu) c.2740T>C (p.Phe914Leu) c.*2382T>C (n.*2382T>C) n.2765T>C c.196T>C (p.Phe66Leu) c.2662T>C (p.Phe888Leu) c.655+2677T>C (n.655+2677T>C) c.1168-594T>C (n.1168-594T>C) c.2593T>C (p.Phe865Leu) c.2656T>C (p.Phe886Leu) c.2644T>C (p.Phe882Leu) | ClinVar dbSNP gnomAD v4 |
2 | g.144398522A>T | CA348707520 | ZEB2 | c.*2514T>A (n.*2514T>A) c.1888T>A (p.Phe630Ile) c.2665T>A (p.Phe889Ile) n.2634T>A c.2329T>A (p.Phe777Ile) c.2740T>A (p.Phe914Ile) c.*2382T>A (n.*2382T>A) n.2765T>A c.196T>A (p.Phe66Ile) c.2662T>A (p.Phe888Ile) c.655+2677T>A (n.655+2677T>A) c.1168-594T>A (n.1168-594T>A) c.2593T>A (p.Phe865Ile) c.2656T>A (p.Phe886Ile) c.2644T>A (p.Phe882Ile) | |
2 | g.144398523T>A | CA429445060 | ZEB2 | c.*2513A>T (n.*2513A>T) c.1887A>T (p.Pro629=) c.2664A>T (p.Pro888=) n.2633A>T c.2328A>T (p.Pro776=) c.2739A>T (p.Pro913=) c.*2381A>T (n.*2381A>T) n.2764A>T c.195A>T (p.Pro65=) c.2661A>T (p.Pro887=) c.655+2676A>T (n.655+2676A>T) c.1168-595A>T (n.1168-595A>T) c.2592A>T (p.Pro864=) c.2655A>T (p.Pro885=) c.2643A>T (p.Pro881=) | |
2 | g.144398523T>C | CA429445063 | ZEB2 | c.*2513A>G (n.*2513A>G) c.1887A>G (p.Pro629=) c.2664A>G (p.Pro888=) n.2633A>G c.2328A>G (p.Pro776=) c.2739A>G (p.Pro913=) c.*2381A>G (n.*2381A>G) n.2764A>G c.195A>G (p.Pro65=) c.2661A>G (p.Pro887=) c.655+2676A>G (n.655+2676A>G) c.1168-595A>G (n.1168-595A>G) c.2592A>G (p.Pro864=) c.2655A>G (p.Pro885=) c.2643A>G (p.Pro881=) | gnomAD v4 |
2 | g.144398523T>G | CA429445062 | ZEB2 | c.*2513A>C (n.*2513A>C) c.1887A>C (p.Pro629=) c.2664A>C (p.Pro888=) n.2633A>C c.2328A>C (p.Pro776=) c.2739A>C (p.Pro913=) c.*2381A>C (n.*2381A>C) n.2764A>C c.195A>C (p.Pro65=) c.2661A>C (p.Pro887=) c.655+2676A>C (n.655+2676A>C) c.1168-595A>C (n.1168-595A>C) c.2592A>C (p.Pro864=) c.2655A>C (p.Pro885=) c.2643A>C (p.Pro881=) | |
2 | g.144398524G>A | CA348707524 | ZEB2 | c.*2512C>T (n.*2512C>T) c.1886C>T (p.Pro629Leu) c.2663C>T (p.Pro888Leu) n.2632C>T c.2327C>T (p.Pro776Leu) c.2738C>T (p.Pro913Leu) c.*2380C>T (n.*2380C>T) n.2763C>T c.194C>T (p.Pro65Leu) c.2660C>T (p.Pro887Leu) c.655+2675C>T (n.655+2675C>T) c.1168-596C>T (n.1168-596C>T) c.2591C>T (p.Pro864Leu) c.2654C>T (p.Pro885Leu) c.2642C>T (p.Pro881Leu) | |
2 | g.144398524G>C | CA348707527 | ZEB2 | c.*2512C>G (n.*2512C>G) c.1886C>G (p.Pro629Arg) c.2663C>G (p.Pro888Arg) n.2632C>G c.2327C>G (p.Pro776Arg) c.2738C>G (p.Pro913Arg) c.*2380C>G (n.*2380C>G) n.2763C>G c.194C>G (p.Pro65Arg) c.2660C>G (p.Pro887Arg) c.655+2675C>G (n.655+2675C>G) c.1168-596C>G (n.1168-596C>G) c.2591C>G (p.Pro864Arg) c.2654C>G (p.Pro885Arg) c.2642C>G (p.Pro881Arg) | |
2 | g.144398524G>T | CA348707522 | ZEB2 | c.*2512C>A (n.*2512C>A) c.1886C>A (p.Pro629Gln) c.2663C>A (p.Pro888Gln) n.2632C>A c.2327C>A (p.Pro776Gln) c.2738C>A (p.Pro913Gln) c.*2380C>A (n.*2380C>A) n.2763C>A c.194C>A (p.Pro65Gln) c.2660C>A (p.Pro887Gln) c.655+2675C>A (n.655+2675C>A) c.1168-596C>A (n.1168-596C>A) c.2591C>A (p.Pro864Gln) c.2654C>A (p.Pro885Gln) c.2642C>A (p.Pro881Gln) | |
2 | g.144398526del | CA2586970081 | ZEB2 | c.*2512del (n.*2512del) c.1886del (p.Pro629HisfsTer?) c.2663del (p.Pro888HisfsTer?) n.2632del c.2327del (p.Pro776HisfsTer?) c.2738del (p.Pro913HisfsTer?) c.*2380del (n.*2380del) n.2763del c.194del (p.Pro65HisfsTer?) c.2660del (p.Pro887HisfsTer?) c.655+2675del (n.655+2675del) c.1168-596del (n.1168-596del) c.2591del (p.Pro864HisfsTer?) c.2654del (p.Pro885HisfsTer?) c.2642del (p.Pro881HisfsTer?) | |
2 | g.144398525G>A | CA348707530 | ZEB2 | c.*2511C>T (n.*2511C>T) c.1885C>T (p.Pro629Ser) c.2662C>T (p.Pro888Ser) n.2631C>T c.2326C>T (p.Pro776Ser) c.2737C>T (p.Pro913Ser) c.*2379C>T (n.*2379C>T) n.2762C>T c.193C>T (p.Pro65Ser) c.2659C>T (p.Pro887Ser) c.655+2674C>T (n.655+2674C>T) c.1168-597C>T (n.1168-597C>T) c.2590C>T (p.Pro864Ser) c.2653C>T (p.Pro885Ser) c.2641C>T (p.Pro881Ser) | gnomAD v4 |
2 | g.144398525G>C | CA348707534 | ZEB2 | c.*2511C>G (n.*2511C>G) c.1885C>G (p.Pro629Ala) c.2662C>G (p.Pro888Ala) n.2631C>G c.2326C>G (p.Pro776Ala) c.2737C>G (p.Pro913Ala) c.*2379C>G (n.*2379C>G) n.2762C>G c.193C>G (p.Pro65Ala) c.2659C>G (p.Pro887Ala) c.655+2674C>G (n.655+2674C>G) c.1168-597C>G (n.1168-597C>G) c.2590C>G (p.Pro864Ala) c.2653C>G (p.Pro885Ala) c.2641C>G (p.Pro881Ala) | |
2 | g.144398525G>T | CA348707531 | ZEB2 | c.*2511C>A (n.*2511C>A) c.1885C>A (p.Pro629Thr) c.2662C>A (p.Pro888Thr) n.2631C>A c.2326C>A (p.Pro776Thr) c.2737C>A (p.Pro913Thr) c.*2379C>A (n.*2379C>A) n.2762C>A c.193C>A (p.Pro65Thr) c.2659C>A (p.Pro887Thr) c.655+2674C>A (n.655+2674C>A) c.1168-597C>A (n.1168-597C>A) c.2590C>A (p.Pro864Thr) c.2653C>A (p.Pro885Thr) c.2641C>A (p.Pro881Thr) | |
2 | g.144398526G>A | CA429445068 | ZEB2 | c.*2510C>T (n.*2510C>T) c.1884C>T (p.Asn628=) c.2661C>T (p.Asn887=) n.2630C>T c.2325C>T (p.Asn775=) c.2736C>T (p.Asn912=) c.*2378C>T (n.*2378C>T) n.2761C>T c.192C>T (p.Asn64=) c.2658C>T (p.Asn886=) c.655+2673C>T (n.655+2673C>T) c.1168-598C>T (n.1168-598C>T) c.2589C>T (p.Asn863=) c.2652C>T (p.Asn884=) c.2640C>T (p.Asn880=) | gnomAD v4 |
2 | g.144398526G>C | CA348707538 | ZEB2 | c.*2510C>G (n.*2510C>G) c.1884C>G (p.Asn628Lys) c.2661C>G (p.Asn887Lys) n.2630C>G c.2325C>G (p.Asn775Lys) c.2736C>G (p.Asn912Lys) c.*2378C>G (n.*2378C>G) n.2761C>G c.192C>G (p.Asn64Lys) c.2658C>G (p.Asn886Lys) c.655+2673C>G (n.655+2673C>G) c.1168-598C>G (n.1168-598C>G) c.2589C>G (p.Asn863Lys) c.2652C>G (p.Asn884Lys) c.2640C>G (p.Asn880Lys) | |
2 | g.144398526G>T | CA348707539 | ZEB2 | c.*2510C>A (n.*2510C>A) c.1884C>A (p.Asn628Lys) c.2661C>A (p.Asn887Lys) n.2630C>A c.2325C>A (p.Asn775Lys) c.2736C>A (p.Asn912Lys) c.*2378C>A (n.*2378C>A) n.2761C>A c.192C>A (p.Asn64Lys) c.2658C>A (p.Asn886Lys) c.655+2673C>A (n.655+2673C>A) c.1168-598C>A (n.1168-598C>A) c.2589C>A (p.Asn863Lys) c.2652C>A (p.Asn884Lys) c.2640C>A (p.Asn880Lys) | |
2 | g.144398527T>A | CA348707542 | ZEB2 | c.*2509A>T (n.*2509A>T) c.1883A>T (p.Asn628Ile) c.2660A>T (p.Asn887Ile) n.2629A>T c.2324A>T (p.Asn775Ile) c.2735A>T (p.Asn912Ile) c.*2377A>T (n.*2377A>T) n.2760A>T c.191A>T (p.Asn64Ile) c.2657A>T (p.Asn886Ile) c.655+2672A>T (n.655+2672A>T) c.1168-599A>T (n.1168-599A>T) c.2588A>T (p.Asn863Ile) c.2651A>T (p.Asn884Ile) c.2639A>T (p.Asn880Ile) | |
2 | g.144398527T>C | CA348707545 | ZEB2 | c.*2509A>G (n.*2509A>G) c.1883A>G (p.Asn628Ser) c.2660A>G (p.Asn887Ser) n.2629A>G c.2324A>G (p.Asn775Ser) c.2735A>G (p.Asn912Ser) c.*2377A>G (n.*2377A>G) n.2760A>G c.191A>G (p.Asn64Ser) c.2657A>G (p.Asn886Ser) c.655+2672A>G (n.655+2672A>G) c.1168-599A>G (n.1168-599A>G) c.2588A>G (p.Asn863Ser) c.2651A>G (p.Asn884Ser) c.2639A>G (p.Asn880Ser) | |
2 | g.144398527T>G | CA348707547 | ZEB2 | c.*2509A>C (n.*2509A>C) c.1883A>C (p.Asn628Thr) c.2660A>C (p.Asn887Thr) n.2629A>C c.2324A>C (p.Asn775Thr) c.2735A>C (p.Asn912Thr) c.*2377A>C (n.*2377A>C) n.2760A>C c.191A>C (p.Asn64Thr) c.2657A>C (p.Asn886Thr) c.655+2672A>C (n.655+2672A>C) c.1168-599A>C (n.1168-599A>C) c.2588A>C (p.Asn863Thr) c.2651A>C (p.Asn884Thr) c.2639A>C (p.Asn880Thr) | |
2 | g.144398528T>A | CA348707554 | ZEB2 | c.*2508A>T (n.*2508A>T) c.1882A>T (p.Asn628Tyr) c.2659A>T (p.Asn887Tyr) n.2628A>T c.2323A>T (p.Asn775Tyr) c.2734A>T (p.Asn912Tyr) c.*2376A>T (n.*2376A>T) n.2759A>T c.190A>T (p.Asn64Tyr) c.2656A>T (p.Asn886Tyr) c.655+2671A>T (n.655+2671A>T) c.1168-600A>T (n.1168-600A>T) c.2587A>T (p.Asn863Tyr) c.2650A>T (p.Asn884Tyr) c.2638A>T (p.Asn880Tyr) | |
2 | g.144398528T>C | CA348707552 | ZEB2 | c.*2508A>G (n.*2508A>G) c.1882A>G (p.Asn628Asp) c.2659A>G (p.Asn887Asp) n.2628A>G c.2323A>G (p.Asn775Asp) c.2734A>G (p.Asn912Asp) c.*2376A>G (n.*2376A>G) n.2759A>G c.190A>G (p.Asn64Asp) c.2656A>G (p.Asn886Asp) c.655+2671A>G (n.655+2671A>G) c.1168-600A>G (n.1168-600A>G) c.2587A>G (p.Asn863Asp) c.2650A>G (p.Asn884Asp) c.2638A>G (p.Asn880Asp) | |
2 | g.144398528T>G | CA348707550 | ZEB2 | c.*2508A>C (n.*2508A>C) c.1882A>C (p.Asn628His) c.2659A>C (p.Asn887His) n.2628A>C c.2323A>C (p.Asn775His) c.2734A>C (p.Asn912His) c.*2376A>C (n.*2376A>C) n.2759A>C c.190A>C (p.Asn64His) c.2656A>C (p.Asn886His) c.655+2671A>C (n.655+2671A>C) c.1168-600A>C (n.1168-600A>C) c.2587A>C (p.Asn863His) c.2650A>C (p.Asn884His) c.2638A>C (p.Asn880His) | |
2 | g.144398529C>A | CA348707557 | ZEB2 | c.*2507G>T (n.*2507G>T) c.1881G>T (p.Met627Ile) c.2658G>T (p.Met886Ile) n.2627G>T c.2322G>T (p.Met774Ile) c.2733G>T (p.Met911Ile) c.*2375G>T (n.*2375G>T) n.2758G>T c.189G>T (p.Met63Ile) c.2655G>T (p.Met885Ile) c.655+2670G>T (n.655+2670G>T) c.1168-601G>T (n.1168-601G>T) c.2586G>T (p.Met862Ile) c.2649G>T (p.Met883Ile) c.2637G>T (p.Met879Ile) | gnomAD v4 |
2 | g.144398529C>G | CA348707559 | ZEB2 | c.*2507G>C (n.*2507G>C) c.1881G>C (p.Met627Ile) c.2658G>C (p.Met886Ile) n.2627G>C c.2322G>C (p.Met774Ile) c.2733G>C (p.Met911Ile) c.*2375G>C (n.*2375G>C) n.2758G>C c.189G>C (p.Met63Ile) c.2655G>C (p.Met885Ile) c.655+2670G>C (n.655+2670G>C) c.1168-601G>C (n.1168-601G>C) c.2586G>C (p.Met862Ile) c.2649G>C (p.Met883Ile) c.2637G>C (p.Met879Ile) | |
2 | g.144398529C>T | CA348707561 | ZEB2 | c.*2507G>A (n.*2507G>A) c.1881G>A (p.Met627Ile) c.2658G>A (p.Met886Ile) n.2627G>A c.2322G>A (p.Met774Ile) c.2733G>A (p.Met911Ile) c.*2375G>A (n.*2375G>A) n.2758G>A c.189G>A (p.Met63Ile) c.2655G>A (p.Met885Ile) c.655+2670G>A (n.655+2670G>A) c.1168-601G>A (n.1168-601G>A) c.2586G>A (p.Met862Ile) c.2649G>A (p.Met883Ile) c.2637G>A (p.Met879Ile) | gnomAD v4 |