Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.144398412T>ACA429445078ZEB2c.*2624A>T (n.*2624A>T)
c.1998A>T (p.Gly666=)
c.2775A>T (p.Gly925=)
n.2744A>T
c.2439A>T (p.Gly813=)
c.2850A>T (p.Gly950=)
c.*2492A>T (n.*2492A>T)
n.2875A>T
c.306A>T (p.Gly102=)
c.2772A>T (p.Gly924=)
c.655+2787A>T (n.655+2787A>T)
c.1168-484A>T (n.1168-484A>T)
c.2703A>T (p.Gly901=)
c.2766A>T (p.Gly922=)
c.2754A>T (p.Gly918=)
2g.144398412T>CCA429445080ZEB2c.*2624A>G (n.*2624A>G)
c.1998A>G (p.Gly666=)
c.2775A>G (p.Gly925=)
n.2744A>G
c.2439A>G (p.Gly813=)
c.2850A>G (p.Gly950=)
c.*2492A>G (n.*2492A>G)
n.2875A>G
c.306A>G (p.Gly102=)
c.2772A>G (p.Gly924=)
c.655+2787A>G (n.655+2787A>G)
c.1168-484A>G (n.1168-484A>G)
c.2703A>G (p.Gly901=)
c.2766A>G (p.Gly922=)
c.2754A>G (p.Gly918=)
2g.144398412T>GCA429445082ZEB2c.*2624A>C (n.*2624A>C)
c.1998A>C (p.Gly666=)
c.2775A>C (p.Gly925=)
n.2744A>C
c.2439A>C (p.Gly813=)
c.2850A>C (p.Gly950=)
c.*2492A>C (n.*2492A>C)
n.2875A>C
c.306A>C (p.Gly102=)
c.2772A>C (p.Gly924=)
c.655+2787A>C (n.655+2787A>C)
c.1168-484A>C (n.1168-484A>C)
c.2703A>C (p.Gly901=)
c.2766A>C (p.Gly922=)
c.2754A>C (p.Gly918=)
2g.144398413C>ACA348707022ZEB2c.*2623G>T (n.*2623G>T)
c.1997G>T (p.Gly666Val)
c.2774G>T (p.Gly925Val)
n.2743G>T
c.2438G>T (p.Gly813Val)
c.2849G>T (p.Gly950Val)
c.*2491G>T (n.*2491G>T)
n.2874G>T
c.305G>T (p.Gly102Val)
c.2771G>T (p.Gly924Val)
c.655+2786G>T (n.655+2786G>T)
c.1168-485G>T (n.1168-485G>T)
c.2702G>T (p.Gly901Val)
c.2765G>T (p.Gly922Val)
c.2753G>T (p.Gly918Val)
2g.144398413C=CA1294884881ZEB2c.*2623G= (n.*2623G=)
c.1997G= (p.Gly666=)
c.2774G= (p.Gly925=)
n.2743G=
c.2438G= (p.Gly813=)
c.2849G= (p.Gly950=)
c.*2491G= (n.*2491G=)
n.2874G=
c.305G= (p.Gly102=)
c.2771G= (p.Gly924=)
c.655+2786G= (n.655+2786G=)
c.1168-485G= (n.1168-485G=)
c.2702G= (p.Gly901=)
c.2765G= (p.Gly922=)
c.2753G= (p.Gly918=)
2g.144398413C>GCA348707020ZEB2c.*2623G>C (n.*2623G>C)
c.1997G>C (p.Gly666Ala)
c.2774G>C (p.Gly925Ala)
n.2743G>C
c.2438G>C (p.Gly813Ala)
c.2849G>C (p.Gly950Ala)
c.*2491G>C (n.*2491G>C)
n.2874G>C
c.305G>C (p.Gly102Ala)
c.2771G>C (p.Gly924Ala)
c.655+2786G>C (n.655+2786G>C)
c.1168-485G>C (n.1168-485G>C)
c.2702G>C (p.Gly901Ala)
c.2765G>C (p.Gly922Ala)
c.2753G>C (p.Gly918Ala)
 ClinVar dbSNP
2g.144398413C>TCA348707017ZEB2c.*2623G>A (n.*2623G>A)
c.1997G>A (p.Gly666Glu)
c.2774G>A (p.Gly925Glu)
n.2743G>A
c.2438G>A (p.Gly813Glu)
c.2849G>A (p.Gly950Glu)
c.*2491G>A (n.*2491G>A)
n.2874G>A
c.305G>A (p.Gly102Glu)
c.2771G>A (p.Gly924Glu)
c.655+2786G>A (n.655+2786G>A)
c.1168-485G>A (n.1168-485G>A)
c.2702G>A (p.Gly901Glu)
c.2765G>A (p.Gly922Glu)
c.2753G>A (p.Gly918Glu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.144398414C>ACA348707026ZEB2c.*2622G>T (n.*2622G>T)
c.1996G>T (p.Gly666Ter)
c.2773G>T (p.Gly925Ter)
n.2742G>T
c.2437G>T (p.Gly813Ter)
c.2848G>T (p.Gly950Ter)
c.*2490G>T (n.*2490G>T)
n.2873G>T
c.304G>T (p.Gly102Ter)
c.2770G>T (p.Gly924Ter)
c.655+2785G>T (n.655+2785G>T)
c.1168-486G>T (n.1168-486G>T)
c.2701G>T (p.Gly901Ter)
c.2764G>T (p.Gly922Ter)
c.2752G>T (p.Gly918Ter)
2g.144398414C>GCA348707025ZEB2c.*2622G>C (n.*2622G>C)
c.1996G>C (p.Gly666Arg)
c.2773G>C (p.Gly925Arg)
n.2742G>C
c.2437G>C (p.Gly813Arg)
c.2848G>C (p.Gly950Arg)
c.*2490G>C (n.*2490G>C)
n.2873G>C
c.304G>C (p.Gly102Arg)
c.2770G>C (p.Gly924Arg)
c.655+2785G>C (n.655+2785G>C)
c.1168-486G>C (n.1168-486G>C)
c.2701G>C (p.Gly901Arg)
c.2764G>C (p.Gly922Arg)
c.2752G>C (p.Gly918Arg)
2g.144398414C>TCA348707029ZEB2c.*2622G>A (n.*2622G>A)
c.1996G>A (p.Gly666Arg)
c.2773G>A (p.Gly925Arg)
n.2742G>A
c.2437G>A (p.Gly813Arg)
c.2848G>A (p.Gly950Arg)
c.*2490G>A (n.*2490G>A)
n.2873G>A
c.304G>A (p.Gly102Arg)
c.2770G>A (p.Gly924Arg)
c.655+2785G>A (n.655+2785G>A)
c.1168-486G>A (n.1168-486G>A)
c.2701G>A (p.Gly901Arg)
c.2764G>A (p.Gly922Arg)
c.2752G>A (p.Gly918Arg)
2g.144398415T>ACA429445087ZEB2c.*2621A>T (n.*2621A>T)
c.1995A>T (p.Pro665=)
c.2772A>T (p.Pro924=)
n.2741A>T
c.2436A>T (p.Pro812=)
c.2847A>T (p.Pro949=)
c.*2489A>T (n.*2489A>T)
n.2872A>T
c.303A>T (p.Pro101=)
c.2769A>T (p.Pro923=)
c.655+2784A>T (n.655+2784A>T)
c.1168-487A>T (n.1168-487A>T)
c.2700A>T (p.Pro900=)
c.2763A>T (p.Pro921=)
c.2751A>T (p.Pro917=)
2g.144398415T>CCA429445089ZEB2c.*2621A>G (n.*2621A>G)
c.1995A>G (p.Pro665=)
c.2772A>G (p.Pro924=)
n.2741A>G
c.2436A>G (p.Pro812=)
c.2847A>G (p.Pro949=)
c.*2489A>G (n.*2489A>G)
n.2872A>G
c.303A>G (p.Pro101=)
c.2769A>G (p.Pro923=)
c.655+2784A>G (n.655+2784A>G)
c.1168-487A>G (n.1168-487A>G)
c.2700A>G (p.Pro900=)
c.2763A>G (p.Pro921=)
c.2751A>G (p.Pro917=)
2g.144398415T>GCA429445090ZEB2c.*2621A>C (n.*2621A>C)
c.1995A>C (p.Pro665=)
c.2772A>C (p.Pro924=)
n.2741A>C
c.2436A>C (p.Pro812=)
c.2847A>C (p.Pro949=)
c.*2489A>C (n.*2489A>C)
n.2872A>C
c.303A>C (p.Pro101=)
c.2769A>C (p.Pro923=)
c.655+2784A>C (n.655+2784A>C)
c.1168-487A>C (n.1168-487A>C)
c.2700A>C (p.Pro900=)
c.2763A>C (p.Pro921=)
c.2751A>C (p.Pro917=)
2g.144398416G>ACA348707032ZEB2c.*2620C>T (n.*2620C>T)
c.1994C>T (p.Pro665Leu)
c.2771C>T (p.Pro924Leu)
n.2740C>T
c.2435C>T (p.Pro812Leu)
c.2846C>T (p.Pro949Leu)
c.*2488C>T (n.*2488C>T)
n.2871C>T
c.302C>T (p.Pro101Leu)
c.2768C>T (p.Pro923Leu)
c.655+2783C>T (n.655+2783C>T)
c.1168-488C>T (n.1168-488C>T)
c.2699C>T (p.Pro900Leu)
c.2762C>T (p.Pro921Leu)
c.2750C>T (p.Pro917Leu)
2g.144398416G>CCA348707034ZEB2c.*2620C>G (n.*2620C>G)
c.1994C>G (p.Pro665Arg)
c.2771C>G (p.Pro924Arg)
n.2740C>G
c.2435C>G (p.Pro812Arg)
c.2846C>G (p.Pro949Arg)
c.*2488C>G (n.*2488C>G)
n.2871C>G
c.302C>G (p.Pro101Arg)
c.2768C>G (p.Pro923Arg)
c.655+2783C>G (n.655+2783C>G)
c.1168-488C>G (n.1168-488C>G)
c.2699C>G (p.Pro900Arg)
c.2762C>G (p.Pro921Arg)
c.2750C>G (p.Pro917Arg)
2g.144398416G>TCA348707036ZEB2c.*2620C>A (n.*2620C>A)
c.1994C>A (p.Pro665Gln)
c.2771C>A (p.Pro924Gln)
n.2740C>A
c.2435C>A (p.Pro812Gln)
c.2846C>A (p.Pro949Gln)
c.*2488C>A (n.*2488C>A)
n.2871C>A
c.302C>A (p.Pro101Gln)
c.2768C>A (p.Pro923Gln)
c.655+2783C>A (n.655+2783C>A)
c.1168-488C>A (n.1168-488C>A)
c.2699C>A (p.Pro900Gln)
c.2762C>A (p.Pro921Gln)
c.2750C>A (p.Pro917Gln)
2g.144398417G>ACA348707038ZEB2c.*2619C>T (n.*2619C>T)
c.1993C>T (p.Pro665Ser)
c.2770C>T (p.Pro924Ser)
n.2739C>T
c.2434C>T (p.Pro812Ser)
c.2845C>T (p.Pro949Ser)
c.*2487C>T (n.*2487C>T)
n.2870C>T
c.301C>T (p.Pro101Ser)
c.2767C>T (p.Pro923Ser)
c.655+2782C>T (n.655+2782C>T)
c.1168-489C>T (n.1168-489C>T)
c.2698C>T (p.Pro900Ser)
c.2761C>T (p.Pro921Ser)
c.2749C>T (p.Pro917Ser)
 gnomAD v4
2g.144398417G>CCA348707040ZEB2c.*2619C>G (n.*2619C>G)
c.1993C>G (p.Pro665Ala)
c.2770C>G (p.Pro924Ala)
n.2739C>G
c.2434C>G (p.Pro812Ala)
c.2845C>G (p.Pro949Ala)
c.*2487C>G (n.*2487C>G)
n.2870C>G
c.301C>G (p.Pro101Ala)
c.2767C>G (p.Pro923Ala)
c.655+2782C>G (n.655+2782C>G)
c.1168-489C>G (n.1168-489C>G)
c.2698C>G (p.Pro900Ala)
c.2761C>G (p.Pro921Ala)
c.2749C>G (p.Pro917Ala)
2g.144398417G=CA1294884882ZEB2c.*2619C= (n.*2619C=)
c.1993C= (p.Pro665=)
c.2770C= (p.Pro924=)
n.2739C=
c.2434C= (p.Pro812=)
c.2845C= (p.Pro949=)
c.*2487C= (n.*2487C=)
n.2870C=
c.301C= (p.Pro101=)
c.2767C= (p.Pro923=)
c.655+2782C= (n.655+2782C=)
c.1168-489C= (n.1168-489C=)
c.2698C= (p.Pro900=)
c.2761C= (p.Pro921=)
c.2749C= (p.Pro917=)
2g.144398417G>TCA348707042ZEB2c.*2619C>A (n.*2619C>A)
c.1993C>A (p.Pro665Thr)
c.2770C>A (p.Pro924Thr)
n.2739C>A
c.2434C>A (p.Pro812Thr)
c.2845C>A (p.Pro949Thr)
c.*2487C>A (n.*2487C>A)
n.2870C>A
c.301C>A (p.Pro101Thr)
c.2767C>A (p.Pro923Thr)
c.655+2782C>A (n.655+2782C>A)
c.1168-489C>A (n.1168-489C>A)
c.2698C>A (p.Pro900Thr)
c.2761C>A (p.Pro921Thr)
c.2749C>A (p.Pro917Thr)
 dbSNP gnomAD v3 gnomAD v4
2g.144398418G>ACA429445096ZEB2c.*2618C>T (n.*2618C>T)
c.1992C>T (p.Tyr664=)
c.2769C>T (p.Tyr923=)
n.2738C>T
c.2433C>T (p.Tyr811=)
c.2844C>T (p.Tyr948=)
c.*2486C>T (n.*2486C>T)
n.2869C>T
c.300C>T (p.Tyr100=)
c.2766C>T (p.Tyr922=)
c.655+2781C>T (n.655+2781C>T)
c.1168-490C>T (n.1168-490C>T)
c.2697C>T (p.Tyr899=)
c.2760C>T (p.Tyr920=)
c.2748C>T (p.Tyr916=)
2g.144398418G>CCA348707045ZEB2c.*2618C>G (n.*2618C>G)
c.1992C>G (p.Tyr664Ter)
c.2769C>G (p.Tyr923Ter)
n.2738C>G
c.2433C>G (p.Tyr811Ter)
c.2844C>G (p.Tyr948Ter)
c.*2486C>G (n.*2486C>G)
n.2869C>G
c.300C>G (p.Tyr100Ter)
c.2766C>G (p.Tyr922Ter)
c.655+2781C>G (n.655+2781C>G)
c.1168-490C>G (n.1168-490C>G)
c.2697C>G (p.Tyr899Ter)
c.2760C>G (p.Tyr920Ter)
c.2748C>G (p.Tyr916Ter)
 ClinVar
2g.144398418G>TCA348707047ZEB2c.*2618C>A (n.*2618C>A)
c.1992C>A (p.Tyr664Ter)
c.2769C>A (p.Tyr923Ter)
n.2738C>A
c.2433C>A (p.Tyr811Ter)
c.2844C>A (p.Tyr948Ter)
c.*2486C>A (n.*2486C>A)
n.2869C>A
c.300C>A (p.Tyr100Ter)
c.2766C>A (p.Tyr922Ter)
c.655+2781C>A (n.655+2781C>A)
c.1168-490C>A (n.1168-490C>A)
c.2697C>A (p.Tyr899Ter)
c.2760C>A (p.Tyr920Ter)
c.2748C>A (p.Tyr916Ter)
 ClinVar
2g.144398419T>ACA348707050ZEB2c.*2617A>T (n.*2617A>T)
c.1991A>T (p.Tyr664Phe)
c.2768A>T (p.Tyr923Phe)
n.2737A>T
c.2432A>T (p.Tyr811Phe)
c.2843A>T (p.Tyr948Phe)
c.*2485A>T (n.*2485A>T)
n.2868A>T
c.299A>T (p.Tyr100Phe)
c.2765A>T (p.Tyr922Phe)
c.655+2780A>T (n.655+2780A>T)
c.1168-491A>T (n.1168-491A>T)
c.2696A>T (p.Tyr899Phe)
c.2759A>T (p.Tyr920Phe)
c.2747A>T (p.Tyr916Phe)
 COSMIC
2g.144398419T>CCA348707052ZEB2c.*2617A>G (n.*2617A>G)
c.1991A>G (p.Tyr664Cys)
c.2768A>G (p.Tyr923Cys)
n.2737A>G
c.2432A>G (p.Tyr811Cys)
c.2843A>G (p.Tyr948Cys)
c.*2485A>G (n.*2485A>G)
n.2868A>G
c.299A>G (p.Tyr100Cys)
c.2765A>G (p.Tyr922Cys)
c.655+2780A>G (n.655+2780A>G)
c.1168-491A>G (n.1168-491A>G)
c.2696A>G (p.Tyr899Cys)
c.2759A>G (p.Tyr920Cys)
c.2747A>G (p.Tyr916Cys)
2g.144398419T>GCA348707054ZEB2c.*2617A>C (n.*2617A>C)
c.1991A>C (p.Tyr664Ser)
c.2768A>C (p.Tyr923Ser)
n.2737A>C
c.2432A>C (p.Tyr811Ser)
c.2843A>C (p.Tyr948Ser)
c.*2485A>C (n.*2485A>C)
n.2868A>C
c.299A>C (p.Tyr100Ser)
c.2765A>C (p.Tyr922Ser)
c.655+2780A>C (n.655+2780A>C)
c.1168-491A>C (n.1168-491A>C)
c.2696A>C (p.Tyr899Ser)
c.2759A>C (p.Tyr920Ser)
c.2747A>C (p.Tyr916Ser)
2g.144398420A=CA1294884883ZEB2c.*2616T= (n.*2616T=)
c.1990T= (p.Tyr664=)
c.2767T= (p.Tyr923=)
n.2736T=
c.2431T= (p.Tyr811=)
c.2842T= (p.Tyr948=)
c.*2484T= (n.*2484T=)
n.2867T=
c.298T= (p.Tyr100=)
c.2764T= (p.Tyr922=)
c.655+2779T= (n.655+2779T=)
c.1168-492T= (n.1168-492T=)
c.2695T= (p.Tyr899=)
c.2758T= (p.Tyr920=)
c.2746T= (p.Tyr916=)
2g.144398420A>CCA348707057ZEB2c.*2616T>G (n.*2616T>G)
c.1990T>G (p.Tyr664Asp)
c.2767T>G (p.Tyr923Asp)
n.2736T>G
c.2431T>G (p.Tyr811Asp)
c.2842T>G (p.Tyr948Asp)
c.*2484T>G (n.*2484T>G)
n.2867T>G
c.298T>G (p.Tyr100Asp)
c.2764T>G (p.Tyr922Asp)
c.655+2779T>G (n.655+2779T>G)
c.1168-492T>G (n.1168-492T>G)
c.2695T>G (p.Tyr899Asp)
c.2758T>G (p.Tyr920Asp)
c.2746T>G (p.Tyr916Asp)
2g.144398420A>GCA348707059ZEB2c.*2616T>C (n.*2616T>C)
c.1990T>C (p.Tyr664His)
c.2767T>C (p.Tyr923His)
n.2736T>C
c.2431T>C (p.Tyr811His)
c.2842T>C (p.Tyr948His)
c.*2484T>C (n.*2484T>C)
n.2867T>C
c.298T>C (p.Tyr100His)
c.2764T>C (p.Tyr922His)
c.655+2779T>C (n.655+2779T>C)
c.1168-492T>C (n.1168-492T>C)
c.2695T>C (p.Tyr899His)
c.2758T>C (p.Tyr920His)
c.2746T>C (p.Tyr916His)
 dbSNP gnomAD v4
2g.144398420A>TCA348707061ZEB2c.*2616T>A (n.*2616T>A)
c.1990T>A (p.Tyr664Asn)
c.2767T>A (p.Tyr923Asn)
n.2736T>A
c.2431T>A (p.Tyr811Asn)
c.2842T>A (p.Tyr948Asn)
c.*2484T>A (n.*2484T>A)
n.2867T>A
c.298T>A (p.Tyr100Asn)
c.2764T>A (p.Tyr922Asn)
c.655+2779T>A (n.655+2779T>A)
c.1168-492T>A (n.1168-492T>A)
c.2695T>A (p.Tyr899Asn)
c.2758T>A (p.Tyr920Asn)
c.2746T>A (p.Tyr916Asn)
2g.144398421T>ACA291677ZEB2c.*2615A>T (n.*2615A>T)
c.1989A>T (p.Pro663=)
c.2766A>T (p.Pro922=)
n.2735A>T
c.2430A>T (p.Pro810=)
c.2841A>T (p.Pro947=)
c.*2483A>T (n.*2483A>T)
n.2866A>T
c.297A>T (p.Pro99=)
c.2763A>T (p.Pro921=)
c.655+2778A>T (n.655+2778A>T)
c.1168-493A>T (n.1168-493A>T)
c.2694A>T (p.Pro898=)
c.2757A>T (p.Pro919=)
c.2745A>T (p.Pro915=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.144398421T>CCA429445101ZEB2c.*2615A>G (n.*2615A>G)
c.1989A>G (p.Pro663=)
c.2766A>G (p.Pro922=)
n.2735A>G
c.2430A>G (p.Pro810=)
c.2841A>G (p.Pro947=)
c.*2483A>G (n.*2483A>G)
n.2866A>G
c.297A>G (p.Pro99=)
c.2763A>G (p.Pro921=)
c.655+2778A>G (n.655+2778A>G)
c.1168-493A>G (n.1168-493A>G)
c.2694A>G (p.Pro898=)
c.2757A>G (p.Pro919=)
c.2745A>G (p.Pro915=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.144398421T>GCA429445102ZEB2c.*2615A>C (n.*2615A>C)
c.1989A>C (p.Pro663=)
c.2766A>C (p.Pro922=)
n.2735A>C
c.2430A>C (p.Pro810=)
c.2841A>C (p.Pro947=)
c.*2483A>C (n.*2483A>C)
n.2866A>C
c.297A>C (p.Pro99=)
c.2763A>C (p.Pro921=)
c.655+2778A>C (n.655+2778A>C)
c.1168-493A>C (n.1168-493A>C)
c.2694A>C (p.Pro898=)
c.2757A>C (p.Pro919=)
c.2745A>C (p.Pro915=)
2g.144398421T=CA1294884884ZEB2c.*2615A= (n.*2615A=)
c.1989A= (p.Pro663=)
c.2766A= (p.Pro922=)
n.2735A=
c.2430A= (p.Pro810=)
c.2841A= (p.Pro947=)
c.*2483A= (n.*2483A=)
n.2866A=
c.297A= (p.Pro99=)
c.2763A= (p.Pro921=)
c.655+2778A= (n.655+2778A=)
c.1168-493A= (n.1168-493A=)
c.2694A= (p.Pro898=)
c.2757A= (p.Pro919=)
c.2745A= (p.Pro915=)
2g.144398422G>ACA348707066ZEB2c.*2614C>T (n.*2614C>T)
c.1988C>T (p.Pro663Leu)
c.2765C>T (p.Pro922Leu)
n.2734C>T
c.2429C>T (p.Pro810Leu)
c.2840C>T (p.Pro947Leu)
c.*2482C>T (n.*2482C>T)
n.2865C>T
c.296C>T (p.Pro99Leu)
c.2762C>T (p.Pro921Leu)
c.655+2777C>T (n.655+2777C>T)
c.1168-494C>T (n.1168-494C>T)
c.2693C>T (p.Pro898Leu)
c.2756C>T (p.Pro919Leu)
c.2744C>T (p.Pro915Leu)
2g.144398422G>CCA348707068ZEB2c.*2614C>G (n.*2614C>G)
c.1988C>G (p.Pro663Arg)
c.2765C>G (p.Pro922Arg)
n.2734C>G
c.2429C>G (p.Pro810Arg)
c.2840C>G (p.Pro947Arg)
c.*2482C>G (n.*2482C>G)
n.2865C>G
c.296C>G (p.Pro99Arg)
c.2762C>G (p.Pro921Arg)
c.655+2777C>G (n.655+2777C>G)
c.1168-494C>G (n.1168-494C>G)
c.2693C>G (p.Pro898Arg)
c.2756C>G (p.Pro919Arg)
c.2744C>G (p.Pro915Arg)
2g.144398422G=CA1294884885ZEB2c.*2614C= (n.*2614C=)
c.1988C= (p.Pro663=)
c.2765C= (p.Pro922=)
n.2734C=
c.2429C= (p.Pro810=)
c.2840C= (p.Pro947=)
c.*2482C= (n.*2482C=)
n.2865C=
c.296C= (p.Pro99=)
c.2762C= (p.Pro921=)
c.655+2777C= (n.655+2777C=)
c.1168-494C= (n.1168-494C=)
c.2693C= (p.Pro898=)
c.2756C= (p.Pro919=)
c.2744C= (p.Pro915=)
2g.144398422G>TCA348707070ZEB2c.*2614C>A (n.*2614C>A)
c.1988C>A (p.Pro663Gln)
c.2765C>A (p.Pro922Gln)
n.2734C>A
c.2429C>A (p.Pro810Gln)
c.2840C>A (p.Pro947Gln)
c.*2482C>A (n.*2482C>A)
n.2865C>A
c.296C>A (p.Pro99Gln)
c.2762C>A (p.Pro921Gln)
c.655+2777C>A (n.655+2777C>A)
c.1168-494C>A (n.1168-494C>A)
c.2693C>A (p.Pro898Gln)
c.2756C>A (p.Pro919Gln)
c.2744C>A (p.Pro915Gln)
 dbSNP gnomAD v3 gnomAD v4
2g.144398423G>ACA1898212ZEB2c.*2613C>T (n.*2613C>T)
c.1987C>T (p.Pro663Ser)
c.2764C>T (p.Pro922Ser)
n.2733C>T
c.2428C>T (p.Pro810Ser)
c.2839C>T (p.Pro947Ser)
c.*2481C>T (n.*2481C>T)
n.2864C>T
c.295C>T (p.Pro99Ser)
c.2761C>T (p.Pro921Ser)
c.655+2776C>T (n.655+2776C>T)
c.1168-495C>T (n.1168-495C>T)
c.2692C>T (p.Pro898Ser)
c.2755C>T (p.Pro919Ser)
c.2743C>T (p.Pro915Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.144398423G>CCA348707075ZEB2c.*2613C>G (n.*2613C>G)
c.1987C>G (p.Pro663Ala)
c.2764C>G (p.Pro922Ala)
n.2733C>G
c.2428C>G (p.Pro810Ala)
c.2839C>G (p.Pro947Ala)
c.*2481C>G (n.*2481C>G)
n.2864C>G
c.295C>G (p.Pro99Ala)
c.2761C>G (p.Pro921Ala)
c.655+2776C>G (n.655+2776C>G)
c.1168-495C>G (n.1168-495C>G)
c.2692C>G (p.Pro898Ala)
c.2755C>G (p.Pro919Ala)
c.2743C>G (p.Pro915Ala)
 ClinVar
2g.144398423G=CA1294884886ZEB2c.*2613C= (n.*2613C=)
c.1987C= (p.Pro663=)
c.2764C= (p.Pro922=)
n.2733C=
c.2428C= (p.Pro810=)
c.2839C= (p.Pro947=)
c.*2481C= (n.*2481C=)
n.2864C=
c.295C= (p.Pro99=)
c.2761C= (p.Pro921=)
c.655+2776C= (n.655+2776C=)
c.1168-495C= (n.1168-495C=)
c.2692C= (p.Pro898=)
c.2755C= (p.Pro919=)
c.2743C= (p.Pro915=)
2g.144398423G>TCA348707077ZEB2c.*2613C>A (n.*2613C>A)
c.1987C>A (p.Pro663Thr)
c.2764C>A (p.Pro922Thr)
n.2733C>A
c.2428C>A (p.Pro810Thr)
c.2839C>A (p.Pro947Thr)
c.*2481C>A (n.*2481C>A)
n.2864C>A
c.295C>A (p.Pro99Thr)
c.2761C>A (p.Pro921Thr)
c.655+2776C>A (n.655+2776C>A)
c.1168-495C>A (n.1168-495C>A)
c.2692C>A (p.Pro898Thr)
c.2755C>A (p.Pro919Thr)
c.2743C>A (p.Pro915Thr)
2g.144398424T>ACA429445106ZEB2c.*2612A>T (n.*2612A>T)
c.1986A>T (p.Arg662=)
c.2763A>T (p.Arg921=)
n.2732A>T
c.2427A>T (p.Arg809=)
c.2838A>T (p.Arg946=)
c.*2480A>T (n.*2480A>T)
n.2863A>T
c.294A>T (p.Arg98=)
c.2760A>T (p.Arg920=)
c.655+2775A>T (n.655+2775A>T)
c.1168-496A>T (n.1168-496A>T)
c.2691A>T (p.Arg897=)
c.2754A>T (p.Arg918=)
c.2742A>T (p.Arg914=)
2g.144398424T>CCA429445107ZEB2c.*2612A>G (n.*2612A>G)
c.1986A>G (p.Arg662=)
c.2763A>G (p.Arg921=)
n.2732A>G
c.2427A>G (p.Arg809=)
c.2838A>G (p.Arg946=)
c.*2480A>G (n.*2480A>G)
n.2863A>G
c.294A>G (p.Arg98=)
c.2760A>G (p.Arg920=)
c.655+2775A>G (n.655+2775A>G)
c.1168-496A>G (n.1168-496A>G)
c.2691A>G (p.Arg897=)
c.2754A>G (p.Arg918=)
c.2742A>G (p.Arg914=)
2g.144398424T>GCA429445117ZEB2c.*2612A>C (n.*2612A>C)
c.1986A>C (p.Arg662=)
c.2763A>C (p.Arg921=)
n.2732A>C
c.2427A>C (p.Arg809=)
c.2838A>C (p.Arg946=)
c.*2480A>C (n.*2480A>C)
n.2863A>C
c.294A>C (p.Arg98=)
c.2760A>C (p.Arg920=)
c.655+2775A>C (n.655+2775A>C)
c.1168-496A>C (n.1168-496A>C)
c.2691A>C (p.Arg897=)
c.2754A>C (p.Arg918=)
c.2742A>C (p.Arg914=)
2g.144398425C>ACA348707080ZEB2c.*2611G>T (n.*2611G>T)
c.1985G>T (p.Arg662Leu)
c.2762G>T (p.Arg921Leu)
n.2731G>T
c.2426G>T (p.Arg809Leu)
c.2837G>T (p.Arg946Leu)
c.*2479G>T (n.*2479G>T)
n.2862G>T
c.293G>T (p.Arg98Leu)
c.2759G>T (p.Arg920Leu)
c.655+2774G>T (n.655+2774G>T)
c.1168-497G>T (n.1168-497G>T)
c.2690G>T (p.Arg897Leu)
c.2753G>T (p.Arg918Leu)
c.2741G>T (p.Arg914Leu)
 gnomAD v4
2g.144398425C=CA1294884887ZEB2c.*2611G= (n.*2611G=)
c.1985G= (p.Arg662=)
c.2762G= (p.Arg921=)
n.2731G=
c.2426G= (p.Arg809=)
c.2837G= (p.Arg946=)
c.*2479G= (n.*2479G=)
n.2862G=
c.293G= (p.Arg98=)
c.2759G= (p.Arg920=)
c.655+2774G= (n.655+2774G=)
c.1168-497G= (n.1168-497G=)
c.2690G= (p.Arg897=)
c.2753G= (p.Arg918=)
c.2741G= (p.Arg914=)
2g.144398425C>GCA348707082ZEB2c.*2611G>C (n.*2611G>C)
c.1985G>C (p.Arg662Pro)
c.2762G>C (p.Arg921Pro)
n.2731G>C
c.2426G>C (p.Arg809Pro)
c.2837G>C (p.Arg946Pro)
c.*2479G>C (n.*2479G>C)
n.2862G>C
c.293G>C (p.Arg98Pro)
c.2759G>C (p.Arg920Pro)
c.655+2774G>C (n.655+2774G>C)
c.1168-497G>C (n.1168-497G>C)
c.2690G>C (p.Arg897Pro)
c.2753G>C (p.Arg918Pro)
c.2741G>C (p.Arg914Pro)
2g.144398425C>TCA1898213ZEB2c.*2611G>A (n.*2611G>A)
c.1985G>A (p.Arg662Gln)
c.2762G>A (p.Arg921Gln)
n.2731G>A
c.2426G>A (p.Arg809Gln)
c.2837G>A (p.Arg946Gln)
c.*2479G>A (n.*2479G>A)
n.2862G>A
c.293G>A (p.Arg98Gln)
c.2759G>A (p.Arg920Gln)
c.655+2774G>A (n.655+2774G>A)
c.1168-497G>A (n.1168-497G>A)
c.2690G>A (p.Arg897Gln)
c.2753G>A (p.Arg918Gln)
c.2741G>A (p.Arg914Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.144398426G>ACA295208ZEB2c.*2610C>T (n.*2610C>T)
c.1984C>T (p.Arg662Ter)
c.2761C>T (p.Arg921Ter)
n.2730C>T
c.2425C>T (p.Arg809Ter)
c.2836C>T (p.Arg946Ter)
c.*2478C>T (n.*2478C>T)
n.2861C>T
c.292C>T (p.Arg98Ter)
c.2758C>T (p.Arg920Ter)
c.655+2773C>T (n.655+2773C>T)
c.1168-498C>T (n.1168-498C>T)
c.2689C>T (p.Arg897Ter)
c.2752C>T (p.Arg918Ter)
c.2740C>T (p.Arg914Ter)
 ClinVar dbSNP COSMIC
2g.144398426G>CCA348707088ZEB2c.*2610C>G (n.*2610C>G)
c.1984C>G (p.Arg662Gly)
c.2761C>G (p.Arg921Gly)
n.2730C>G
c.2425C>G (p.Arg809Gly)
c.2836C>G (p.Arg946Gly)
c.*2478C>G (n.*2478C>G)
n.2861C>G
c.292C>G (p.Arg98Gly)
c.2758C>G (p.Arg920Gly)
c.655+2773C>G (n.655+2773C>G)
c.1168-498C>G (n.1168-498C>G)
c.2689C>G (p.Arg897Gly)
c.2752C>G (p.Arg918Gly)
c.2740C>G (p.Arg914Gly)
2g.144398426G=CA1294884888ZEB2c.*2610C= (n.*2610C=)
c.1984C= (p.Arg662=)
c.2761C= (p.Arg921=)
n.2730C=
c.2425C= (p.Arg809=)
c.2836C= (p.Arg946=)
c.*2478C= (n.*2478C=)
n.2861C=
c.292C= (p.Arg98=)
c.2758C= (p.Arg920=)
c.655+2773C= (n.655+2773C=)
c.1168-498C= (n.1168-498C=)
c.2689C= (p.Arg897=)
c.2752C= (p.Arg918=)
c.2740C= (p.Arg914=)
2g.144398426G>TCA429445123ZEB2c.*2610C>A (n.*2610C>A)
c.1984C>A (p.Arg662=)
c.2761C>A (p.Arg921=)
n.2730C>A
c.2425C>A (p.Arg809=)
c.2836C>A (p.Arg946=)
c.*2478C>A (n.*2478C>A)
n.2861C>A
c.292C>A (p.Arg98=)
c.2758C>A (p.Arg920=)
c.655+2773C>A (n.655+2773C>A)
c.1168-498C>A (n.1168-498C>A)
c.2689C>A (p.Arg897=)
c.2752C>A (p.Arg918=)
c.2740C>A (p.Arg914=)
2g.144398427T>ACA429445125ZEB2c.*2609A>T (n.*2609A>T)
c.1983A>T (p.Leu661=)
c.2760A>T (p.Leu920=)
n.2729A>T
c.2424A>T (p.Leu808=)
c.2835A>T (p.Leu945=)
c.*2477A>T (n.*2477A>T)
n.2860A>T
c.291A>T (p.Leu97=)
c.2757A>T (p.Leu919=)
c.655+2772A>T (n.655+2772A>T)
c.1168-499A>T (n.1168-499A>T)
c.2688A>T (p.Leu896=)
c.2751A>T (p.Leu917=)
c.2739A>T (p.Leu913=)
2g.144398427T>CCA429445126ZEB2c.*2609A>G (n.*2609A>G)
c.1983A>G (p.Leu661=)
c.2760A>G (p.Leu920=)
n.2729A>G
c.2424A>G (p.Leu808=)
c.2835A>G (p.Leu945=)
c.*2477A>G (n.*2477A>G)
n.2860A>G
c.291A>G (p.Leu97=)
c.2757A>G (p.Leu919=)
c.655+2772A>G (n.655+2772A>G)
c.1168-499A>G (n.1168-499A>G)
c.2688A>G (p.Leu896=)
c.2751A>G (p.Leu917=)
c.2739A>G (p.Leu913=)
2g.144398427T>GCA429445131ZEB2c.*2609A>C (n.*2609A>C)
c.1983A>C (p.Leu661=)
c.2760A>C (p.Leu920=)
n.2729A>C
c.2424A>C (p.Leu808=)
c.2835A>C (p.Leu945=)
c.*2477A>C (n.*2477A>C)
n.2860A>C
c.291A>C (p.Leu97=)
c.2757A>C (p.Leu919=)
c.655+2772A>C (n.655+2772A>C)
c.1168-499A>C (n.1168-499A>C)
c.2688A>C (p.Leu896=)
c.2751A>C (p.Leu917=)
c.2739A>C (p.Leu913=)
2g.144398428A>CCA348707090ZEB2c.*2608T>G (n.*2608T>G)
c.1982T>G (p.Leu661Arg)
c.2759T>G (p.Leu920Arg)
n.2728T>G
c.2423T>G (p.Leu808Arg)
c.2834T>G (p.Leu945Arg)
c.*2476T>G (n.*2476T>G)
n.2859T>G
c.290T>G (p.Leu97Arg)
c.2756T>G (p.Leu919Arg)
c.655+2771T>G (n.655+2771T>G)
c.1168-500T>G (n.1168-500T>G)
c.2687T>G (p.Leu896Arg)
c.2750T>G (p.Leu917Arg)
c.2738T>G (p.Leu913Arg)
2g.144398428A>GCA348707092ZEB2c.*2608T>C (n.*2608T>C)
c.1982T>C (p.Leu661Pro)
c.2759T>C (p.Leu920Pro)
n.2728T>C
c.2423T>C (p.Leu808Pro)
c.2834T>C (p.Leu945Pro)
c.*2476T>C (n.*2476T>C)
n.2859T>C
c.290T>C (p.Leu97Pro)
c.2756T>C (p.Leu919Pro)
c.655+2771T>C (n.655+2771T>C)
c.1168-500T>C (n.1168-500T>C)
c.2687T>C (p.Leu896Pro)
c.2750T>C (p.Leu917Pro)
c.2738T>C (p.Leu913Pro)
2g.144398428A>TCA348707093ZEB2c.*2608T>A (n.*2608T>A)
c.1982T>A (p.Leu661Gln)
c.2759T>A (p.Leu920Gln)
n.2728T>A
c.2423T>A (p.Leu808Gln)
c.2834T>A (p.Leu945Gln)
c.*2476T>A (n.*2476T>A)
n.2859T>A
c.290T>A (p.Leu97Gln)
c.2756T>A (p.Leu919Gln)
c.655+2771T>A (n.655+2771T>A)
c.1168-500T>A (n.1168-500T>A)
c.2687T>A (p.Leu896Gln)
c.2750T>A (p.Leu917Gln)
c.2738T>A (p.Leu913Gln)
2g.144398429G>ACA429445133ZEB2c.*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
2g.144398429G>CCA348707098ZEB2c.*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)
2g.144398429G=CA1294884890ZEB2c.*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=)
2g.144398429G>TCA348707096ZEB2c.*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)
2g.144398429_144398430delCA913089125ZEB2c.*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)
2g.144398429_144398430delinsGCCA1294884889ZEB2c.*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=)
2g.144398430C>ACA429445143ZEB2c.*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=)
2g.144398430C>GCA429445140ZEB2c.*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=)
2g.144398430C>TCA429445142ZEB2c.*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=)
2g.144398432delCA658822384ZEB2c.*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
2g.144398431C>ACA348707101ZEB2c.*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)
2g.144398431C>GCA348707102ZEB2c.*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)
2g.144398431C>TCA348707104ZEB2c.*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
2g.144398432C>ACA348707107ZEB2c.*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)
2g.144398432C>GCA348707109ZEB2c.*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)
2g.144398432C>TCA348707111ZEB2c.*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)
2g.144398433A>CCA429445148ZEB2c.*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=)
2g.144398433A>GCA429445149ZEB2c.*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=)
2g.144398433A>TCA429445151ZEB2c.*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=)
2g.144398434G>ACA348707114ZEB2c.*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)
2g.144398434G>CCA348707116ZEB2c.*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)
2g.144398434G>TCA348707118ZEB2c.*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
2g.144398435G>ACA348707121ZEB2c.*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
2g.144398435G>CCA348707123ZEB2c.*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)
2g.144398435G=CA1294884891ZEB2c.*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=)
2g.144398435G>TCA348707125ZEB2c.*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
2g.144398436A>CCA348707128ZEB2c.*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)
2g.144398436A>GCA429445157ZEB2c.*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
2g.144398436A>TCA429445158ZEB2c.*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=)
2g.144398437A=CA1294884892ZEB2c.*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=)
2g.144398437A>CCA348707134ZEB2c.*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)
2g.144398437A>GCA348707132ZEB2c.*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
2g.144398437A>TCA348707130ZEB2c.*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
2g.144398438T>ACA348707137ZEB2c.*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)
2g.144398438T>CCA348707139ZEB2c.*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)
2g.144398438T>GCA348707141ZEB2c.*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)
2g.144398439A>CCA348707145ZEB2c.*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)
2g.144398439A>GCA429445167ZEB2c.*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=)
2g.144398439A>TCA348707147ZEB2c.*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)
2g.144398440C>ACA348707150ZEB2c.*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)
2g.144398440C=CA1294884893ZEB2c.*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=)
2g.144398440C>GCA1898214ZEB2c.*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
2g.144398440C>TCA348707151ZEB2c.*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)
2g.144398441T>ACA348707152ZEB2c.*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)
2g.144398441T>CCA16603802ZEB2c.*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
2g.144398441T>GCA348707153ZEB2c.*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
2g.144398441T=CA1294884894ZEB2c.*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=)
2g.144398442G>ACA429445169ZEB2c.*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=)
2g.144398442G>CCA429445170ZEB2c.*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
2g.144398442G>TCA429445171ZEB2c.*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=)
2g.144398443delCA2573133270ZEB2c.*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
2g.144398443G>ACA348707154ZEB2c.*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)
2g.144398443G>CCA348707155ZEB2c.*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)
2g.144398443G>TCA348707156ZEB2c.*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
2g.144398444_144398447dupCA2586970072ZEB2c.*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?)
2g.144398444T>ACA348707158ZEB2c.*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)
2g.144398444T>CCA348707159ZEB2c.*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
2g.144398444T>GCA348707157ZEB2c.*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)
2g.144398445C>ACA348707160ZEB2c.*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)
2g.144398445C=CA1294884895ZEB2c.*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=)
2g.144398445C>GCA348707161ZEB2c.*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)
2g.144398445C>TCA57554744ZEB2c.*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
2g.144398446T>ACA348707162ZEB2c.*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)
2g.144398446T>CCA348707163ZEB2c.*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)
2g.144398446T>GCA348707164ZEB2c.*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)
2g.144398447G>ACA57554749ZEB2c.*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
2g.144398447G>CCA348707165ZEB2c.*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)
2g.144398447G=CA1294884896ZEB2c.*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=)
2g.144398447G>TCA348707166ZEB2c.*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
2g.144398448delCA2586970073ZEB2c.*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)
2g.144398448G>ACA57554751ZEB2c.*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
2g.144398448G>CCA429445179ZEB2c.*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=)
2g.144398448G=CA1294884897ZEB2c.*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=)
2g.144398448G>TCA429445181ZEB2c.*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=)
2g.144398449A>CCA348707167ZEB2c.*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)
2g.144398449A>GCA348707168ZEB2c.*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)
2g.144398449A>TCA348707169ZEB2c.*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)
2g.144398450C>ACA348707170ZEB2c.*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)
2g.144398450C>GCA348707171ZEB2c.*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)
2g.144398450C>TCA348707172ZEB2c.*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)
2g.144398451T>ACA429445186ZEB2c.*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=)
2g.144398451T>CCA429445187ZEB2c.*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=)
2g.144398451T>GCA429445188ZEB2c.*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=)
2g.144398452G>ACA348707173ZEB2c.*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)
2g.144398452G>CCA348707175ZEB2c.*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)
2g.144398452G=CA1294884898ZEB2c.*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=)
2g.144398452G>TCA348707174ZEB2c.*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
2g.144398453G>ACA348707176ZEB2c.*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)
2g.144398453G>CCA348707177ZEB2c.*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)
2g.144398453G>TCA348707178ZEB2c.*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)
2g.144398454T>ACA429445200ZEB2c.*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=)
2g.144398454T>CCA1898215ZEB2c.*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
2g.144398454T>GCA429445201ZEB2c.*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=)
2g.144398454T=CA1294884899ZEB2c.*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=)
2g.144398455G>ACA348707179ZEB2c.*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)
2g.144398455G>CCA348707180ZEB2c.*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
2g.144398455G=CA1294884900ZEB2c.*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=)
2g.144398455G>TCA348707181ZEB2c.*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)
2g.144398456G>ACA348707182ZEB2c.*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)
2g.144398456G>CCA348707183ZEB2c.*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)
2g.144398456G=CA1294884901ZEB2c.*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=)
2g.144398456G>TCA348707184ZEB2c.*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
2g.144398457C>ACA348707186ZEB2c.*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)
2g.144398457C>GCA348707187ZEB2c.*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)
2g.144398457C>TCA348707185ZEB2c.*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)
2g.144398458A=CA1294884902ZEB2c.*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=)
2g.144398458A>CCA348707188ZEB2c.*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)
2g.144398458A>GCA297615ZEB2c.*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
2g.144398458A>TCA348707189ZEB2c.*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)
2g.144398459T>ACA348707190ZEB2c.*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
2g.144398459T>CCA1898216ZEB2c.*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
2g.144398459T>GCA348707191ZEB2c.*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)
2g.144398459T=CA1294884903ZEB2c.*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=)
2g.144398460G>ACA429445215ZEB2c.*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
2g.144398460G>CCA348707193ZEB2c.*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)
2g.144398460G>TCA348707192ZEB2c.*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)
2g.144398461A>CCA348707197ZEB2c.*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)
2g.144398461A>GCA348707198ZEB2c.*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)
2g.144398461A>TCA348707200ZEB2c.*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)
2g.144398462A>CCA348707203ZEB2c.*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)
2g.144398462A>GCA348707204ZEB2c.*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)
2g.144398462A>TCA348707206ZEB2c.*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)
2g.144398463A>CCA429445223ZEB2c.*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=)
2g.144398463A>GCA429445225ZEB2c.*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=)
2g.144398463A>TCA429445224ZEB2c.*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=)
2g.144398464G>ACA348707210ZEB2c.*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
2g.144398464G>CCA348707214ZEB2c.*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)
2g.144398464G>TCA348707212ZEB2c.*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)
2g.144398465T>ACA348707218ZEB2c.*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)
2g.144398465T>CCA348707219ZEB2c.*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)
2g.144398465T>GCA348707221ZEB2c.*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)
2g.144398466A>CCA429445231ZEB2c.*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=)
2g.144398466A>GCA429445232ZEB2c.*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=)
2g.144398466A>TCA429445233ZEB2c.*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=)
2g.144398467G>ACA348707224ZEB2c.*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)
2g.144398467G>CCA348707226ZEB2c.*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)
2g.144398467G>TCA348707228ZEB2c.*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)
2g.144398468C>ACA348707231ZEB2c.*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)
2g.144398468C=CA1294884904ZEB2c.*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=)
2g.144398468C>GCA348707233ZEB2c.*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)
2g.144398468C>TCA348707235ZEB2c.*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
2g.144398469delCA2580063839ZEB2c.*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
2g.144398469A>CCA429444966ZEB2c.*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=)
2g.144398469A>GCA429444967ZEB2c.*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=)
2g.144398469A>TCA429444968ZEB2c.*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=)
2g.144398470G>ACA348707238ZEB2c.*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)
2g.144398470G>CCA348707240ZEB2c.*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)
2g.144398470G>TCA348707242ZEB2c.*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)
2g.144398474delCA2499214970ZEB2c.*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
2g.144398471G>ACA1898217ZEB2c.*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
2g.144398471G>CCA348707248ZEB2c.*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)
2g.144398471G=CA1294884905ZEB2c.*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=)
2g.144398471G>TCA348707246ZEB2c.*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)
2g.144398472G>ACA429444974ZEB2c.*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=)
2g.144398472G>CCA429444975ZEB2c.*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=)
2g.144398472G>TCA429444976ZEB2c.*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=)
2g.144398473G>ACA348707250ZEB2c.*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
2g.144398473G>CCA348707254ZEB2c.*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)
2g.144398473G=CA1294884906ZEB2c.*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=)
2g.144398473G>TCA348707252ZEB2c.*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)
2g.144398474G>ACA1898218ZEB2c.*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
2g.144398474G>CCA348707258ZEB2c.*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
2g.144398474G=CA1294884907ZEB2c.*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=)
2g.144398474G>TCA348707260ZEB2c.*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)
2g.144398475A=CA1294884908ZEB2c.*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=)
2g.144398475A>CCA348707263ZEB2c.*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)
2g.144398475A>GCA429444978ZEB2c.*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
2g.144398475A>TCA348707264ZEB2c.*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)
2g.144398477delCA2586970074ZEB2c.*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)
2g.144398476A>CCA348707269ZEB2c.*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)
2g.144398476A>GCA348707267ZEB2c.*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)
2g.144398476A>TCA348707265ZEB2c.*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)
2g.144398476_144398477insCACA2517145042ZEB2c.*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)
2g.144398477A=CA1294884909ZEB2c.*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=)
2g.144398477A>CCA348707272ZEB2c.*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)
2g.144398477A>GCA348707274ZEB2c.*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)
2g.144398477A>TCA348707276ZEB2c.*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)
2g.144398477_144398478insCAAGGATTCA1294884910ZEB2c.*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
2g.144398478T>ACA429444981ZEB2c.*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=)
2g.144398478T>CCA429444983ZEB2c.*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
2g.144398478T>GCA429444982ZEB2c.*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=)
2g.144398479G>ACA57554776ZEB2c.*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
2g.144398479G>CCA348707281ZEB2c.*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)
2g.144398479G=CA1294884911ZEB2c.*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=)
2g.144398479G>TCA348707283ZEB2c.*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)
2g.144398480C>ACA297613ZEB2c.*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
2g.144398480C=CA1294884912ZEB2c.*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=)
2g.144398480C>GCA348707290ZEB2c.*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)
2g.144398480C>TCA348707288ZEB2c.*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
2g.144398481G>ACA1898219ZEB2c.*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
2g.144398481G>CCA348707295ZEB2c.*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)
2g.144398481G=CA1294884913ZEB2c.*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=)
2g.144398481G>TCA348707297ZEB2c.*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)
2g.144398482C>ACA348707301ZEB2c.*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)
2g.144398482C>GCA348707303ZEB2c.*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)
2g.144398482C>TCA348707305ZEB2c.*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
2g.144398483T>ACA348707308ZEB2c.*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)
2g.144398483T>CCA348707309ZEB2c.*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)
2g.144398483T>GCA348707312ZEB2c.*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)
2g.144398484T>ACA348707315ZEB2c.*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)
2g.144398484T>CCA429444989ZEB2c.*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
2g.144398484T>GCA348707316ZEB2c.*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)
2g.144398485T>ACA348707320ZEB2c.*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)
2g.144398485T>CCA348707324ZEB2c.*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)
2g.144398485T>GCA348707322ZEB2c.*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)
2g.144398486G>ACA275438ZEB2c.*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
2g.144398486G>CCA348707328ZEB2c.*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
2g.144398486G=CA1294884914ZEB2c.*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=)
2g.144398486G>TCA348707330ZEB2c.*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)
2g.144398487A>CCA429444991ZEB2c.*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=)
2g.144398487A>GCA429444992ZEB2c.*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=)
2g.144398487A>TCA429444993ZEB2c.*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=)
2g.144398488G>ACA348707333ZEB2c.*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)
2g.144398488G>CCA348707335ZEB2c.*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)
2g.144398488G>TCA348707337ZEB2c.*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)
2g.144398489delCA2586970075ZEB2c.*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)
2g.144398489G>ACA348707340ZEB2c.*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)
2g.144398489G>CCA348707342ZEB2c.*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)
2g.144398489G>TCA348707343ZEB2c.*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)
2g.144398490T>ACA429444997ZEB2c.*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=)
2g.144398490T>CCA1898220ZEB2c.*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
2g.144398490T>GCA429444999ZEB2c.*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=)
2g.144398490T=CA1294884915ZEB2c.*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=)
2g.144398491G>ACA348707354ZEB2c.*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
2g.144398491G>CCA348707352ZEB2c.*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)
2g.144398491G=CA1294884916ZEB2c.*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=)
2g.144398491G>TCA348707350ZEB2c.*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)
2g.144398492G>ACA348707356ZEB2c.*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)
2g.144398492G>CCA348707358ZEB2c.*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)
2g.144398492G>TCA348707360ZEB2c.*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)
2g.144398493A>CCA429445003ZEB2c.*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=)
2g.144398493A>GCA429445004ZEB2c.*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=)
2g.144398493A>TCA429445005ZEB2c.*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=)
2g.144398494A>CCA348707362ZEB2c.*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
2g.144398494A>GCA348707364ZEB2c.*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)
2g.144398494A>TCA348707366ZEB2c.*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)
2g.144398495G>ACA348707367ZEB2c.*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
2g.144398495G>CCA348707369ZEB2c.*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)
2g.144398495G=CA1294884917ZEB2c.*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=)
2g.144398495G>TCA348707371ZEB2c.*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)
2g.144398496A=CA1294884918ZEB2c.*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=)
2g.144398496A>CCA429445009ZEB2c.*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=)
2g.144398496A>GCA429445010ZEB2c.*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=)
2g.144398496A>TCA429445013ZEB2c.*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
2g.144398497G>ACA348707373ZEB2c.*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)
2g.144398497G>CCA348707375ZEB2c.*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)
2g.144398497G>TCA348707377ZEB2c.*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)
2g.144398497_144398503delinsGCTGTGTCA1294884919ZEB2c.*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=)
2g.144398498C>ACA348707382ZEB2c.*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)
2g.144398498C=CA1294884920ZEB2c.*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=)
2g.144398498C>GCA348707384ZEB2c.*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)
2g.144398498C>TCA348707380ZEB2c.*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
2g.144398498_144398503delCA916670950ZEB2c.*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
2g.144398499T>ACA429445022ZEB2c.*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=)
2g.144398499T>CCA429445020ZEB2c.*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=)
2g.144398499T>GCA429445017ZEB2c.*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=)
2g.144398499dupCA658657061ZEB2c.*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
2g.144398502_144398503dupCA274507ZEB2c.*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
2g.144398500G>ACA348707392ZEB2c.*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)
2g.144398500G>CCA348707393ZEB2c.*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)
2g.144398500G>TCA348707395ZEB2c.*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)
2g.144398501T>ACA348707398ZEB2c.*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)
2g.144398501T>CCA348707399ZEB2c.*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)
2g.144398501T>GCA348707401ZEB2c.*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)
2g.144398501_144398505delinsAGTACA2586970076ZEB2c.*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?)
2g.144398502G>ACA429445026ZEB2c.*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
2g.144398502G>CCA348707404ZEB2c.*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)
2g.144398502G>TCA348707405ZEB2c.*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)
2g.144398503T>ACA348707408ZEB2c.*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)
2g.144398503T>CCA348707409ZEB2c.*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
2g.144398503T>GCA348707411ZEB2c.*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)
2g.144398504A>CCA348707415ZEB2c.*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)
2g.144398504A>GCA348707413ZEB2c.*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)
2g.144398504A>TCA348707414ZEB2c.*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)
2g.144398505delCA2697551037ZEB2c.*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
2g.144398505T>ACA348707417ZEB2c.*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)
2g.144398505T>CCA429445031ZEB2c.*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
2g.144398505T>GCA348707419ZEB2c.*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)
2g.144398505T=CA1294884921ZEB2c.*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=)
2g.144398506A>CCA348707422ZEB2c.*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)
2g.144398506A>GCA348707424ZEB2c.*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)
2g.144398506A>TCA348707426ZEB2c.*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)
2g.144398507A=CA1294884922ZEB2c.*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=)
2g.144398507A>CCA348707429ZEB2c.*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)
2g.144398507A>GCA429445033ZEB2c.*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
2g.144398507A>TCA348707431ZEB2c.*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)
2g.144398508A=CA1294884923ZEB2c.*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=)
2g.144398508A>CCA429445034ZEB2c.*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=)
2g.144398508A>GCA429445035ZEB2c.*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=)
2g.144398508A>TCA1898221ZEB2c.*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
2g.144398508_144398515delinsAGGTTTGGCA1294884924ZEB2c.*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=)
2g.144398509G>ACA348707437ZEB2c.*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
2g.144398509G>CCA348707439ZEB2c.*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
2g.144398509G=CA1294884925ZEB2c.*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=)
2g.144398509G>TCA348707441ZEB2c.*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
2g.144398510delCA2586970078ZEB2c.*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?)
2g.144398509_144398515delCA10583992ZEB2c.*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
2g.144398511_144398515delCA429445038ZEB2c.*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?)
2g.144398510_144398515delCA2586970077ZEB2c.*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)
2g.144398510G>ACA348707447ZEB2c.*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
2g.144398510G>CCA348707449ZEB2c.*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
2g.144398510G>TCA348707445ZEB2c.*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
2g.144398510_144398517delCA2586970079ZEB2c.*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?)
2g.144398511T>ACA348707452ZEB2c.*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)
2g.144398511T>CCA429445039ZEB2c.*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=)
2g.144398511T>GCA348707454ZEB2c.*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)
2g.144398512_144398531dupCA2586970080ZEB2c.*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)
2g.144398512T>ACA348707457ZEB2c.*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)
2g.144398512T>CCA348707459ZEB2c.*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
2g.144398512T>GCA348707462ZEB2c.*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)

Number of alleles fetched