Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.144398348C>ACA348706673ZEB2c.*2688G>T (n.*2688G>T)
c.2062G>T (p.Ala688Ser)
c.2839G>T (p.Ala947Ser)
n.2808G>T
c.2503G>T (p.Ala835Ser)
c.2914G>T (p.Ala972Ser)
c.*2556G>T (n.*2556G>T)
n.2939G>T
c.370G>T (p.Ala124Ser)
c.2836G>T (p.Ala946Ser)
c.655+2851G>T (n.655+2851G>T)
c.1168-420G>T (n.1168-420G>T)
c.2767G>T (p.Ala923Ser)
c.2830G>T (p.Ala944Ser)
c.2818G>T (p.Ala940Ser)
2g.144398348C=CA1294884857ZEB2c.*2688G= (n.*2688G=)
c.2062G= (p.Ala688=)
c.2839G= (p.Ala947=)
n.2808G=
c.2503G= (p.Ala835=)
c.2914G= (p.Ala972=)
c.*2556G= (n.*2556G=)
n.2939G=
c.370G= (p.Ala124=)
c.2836G= (p.Ala946=)
c.655+2851G= (n.655+2851G=)
c.1168-420G= (n.1168-420G=)
c.2767G= (p.Ala923=)
c.2830G= (p.Ala944=)
c.2818G= (p.Ala940=)
2g.144398348C>GCA348706675ZEB2c.*2688G>C (n.*2688G>C)
c.2062G>C (p.Ala688Pro)
c.2839G>C (p.Ala947Pro)
n.2808G>C
c.2503G>C (p.Ala835Pro)
c.2914G>C (p.Ala972Pro)
c.*2556G>C (n.*2556G>C)
n.2939G>C
c.370G>C (p.Ala124Pro)
c.2836G>C (p.Ala946Pro)
c.655+2851G>C (n.655+2851G>C)
c.1168-420G>C (n.1168-420G>C)
c.2767G>C (p.Ala923Pro)
c.2830G>C (p.Ala944Pro)
c.2818G>C (p.Ala940Pro)
dbSNP gnomAD v3 gnomAD v4
2g.144398348C>TCA348706677ZEB2c.*2688G>A (n.*2688G>A)
c.2062G>A (p.Ala688Thr)
c.2839G>A (p.Ala947Thr)
n.2808G>A
c.2503G>A (p.Ala835Thr)
c.2914G>A (p.Ala972Thr)
c.*2556G>A (n.*2556G>A)
n.2939G>A
c.370G>A (p.Ala124Thr)
c.2836G>A (p.Ala946Thr)
c.655+2851G>A (n.655+2851G>A)
c.1168-420G>A (n.1168-420G>A)
c.2767G>A (p.Ala923Thr)
c.2830G>A (p.Ala944Thr)
c.2818G>A (p.Ala940Thr)
2g.144398349A>CCA348706682ZEB2c.*2687T>G (n.*2687T>G)
c.2061T>G (p.Phe687Leu)
c.2838T>G (p.Phe946Leu)
n.2807T>G
c.2502T>G (p.Phe834Leu)
c.2913T>G (p.Phe971Leu)
c.*2555T>G (n.*2555T>G)
n.2938T>G
c.369T>G (p.Phe123Leu)
c.2835T>G (p.Phe945Leu)
c.655+2850T>G (n.655+2850T>G)
c.1168-421T>G (n.1168-421T>G)
c.2766T>G (p.Phe922Leu)
c.2829T>G (p.Phe943Leu)
c.2817T>G (p.Phe939Leu)
2g.144398349A>GCA429444998ZEB2c.*2687T>C (n.*2687T>C)
c.2061T>C (p.Phe687=)
c.2838T>C (p.Phe946=)
n.2807T>C
c.2502T>C (p.Phe834=)
c.2913T>C (p.Phe971=)
c.*2555T>C (n.*2555T>C)
n.2938T>C
c.369T>C (p.Phe123=)
c.2835T>C (p.Phe945=)
c.655+2850T>C (n.655+2850T>C)
c.1168-421T>C (n.1168-421T>C)
c.2766T>C (p.Phe922=)
c.2829T>C (p.Phe943=)
c.2817T>C (p.Phe939=)
gnomAD v4
2g.144398349A>TCA348706680ZEB2c.*2687T>A (n.*2687T>A)
c.2061T>A (p.Phe687Leu)
c.2838T>A (p.Phe946Leu)
n.2807T>A
c.2502T>A (p.Phe834Leu)
c.2913T>A (p.Phe971Leu)
c.*2555T>A (n.*2555T>A)
n.2938T>A
c.369T>A (p.Phe123Leu)
c.2835T>A (p.Phe945Leu)
c.655+2850T>A (n.655+2850T>A)
c.1168-421T>A (n.1168-421T>A)
c.2766T>A (p.Phe922Leu)
c.2829T>A (p.Phe943Leu)
c.2817T>A (p.Phe939Leu)
2g.144398350A=CA1294884858ZEB2c.*2686T= (n.*2686T=)
c.2060T= (p.Phe687=)
c.2837T= (p.Phe946=)
n.2806T=
c.2501T= (p.Phe834=)
c.2912T= (p.Phe971=)
c.*2554T= (n.*2554T=)
n.2937T=
c.368T= (p.Phe123=)
c.2834T= (p.Phe945=)
c.655+2849T= (n.655+2849T=)
c.1168-422T= (n.1168-422T=)
c.2765T= (p.Phe922=)
c.2828T= (p.Phe943=)
c.2816T= (p.Phe939=)
2g.144398350A>CCA348706685ZEB2c.*2686T>G (n.*2686T>G)
c.2060T>G (p.Phe687Cys)
c.2837T>G (p.Phe946Cys)
n.2806T>G
c.2501T>G (p.Phe834Cys)
c.2912T>G (p.Phe971Cys)
c.*2554T>G (n.*2554T>G)
n.2937T>G
c.368T>G (p.Phe123Cys)
c.2834T>G (p.Phe945Cys)
c.655+2849T>G (n.655+2849T>G)
c.1168-422T>G (n.1168-422T>G)
c.2765T>G (p.Phe922Cys)
c.2828T>G (p.Phe943Cys)
c.2816T>G (p.Phe939Cys)
2g.144398350A>GCA348706687ZEB2c.*2686T>C (n.*2686T>C)
c.2060T>C (p.Phe687Ser)
c.2837T>C (p.Phe946Ser)
n.2806T>C
c.2501T>C (p.Phe834Ser)
c.2912T>C (p.Phe971Ser)
c.*2554T>C (n.*2554T>C)
n.2937T>C
c.368T>C (p.Phe123Ser)
c.2834T>C (p.Phe945Ser)
c.655+2849T>C (n.655+2849T>C)
c.1168-422T>C (n.1168-422T>C)
c.2765T>C (p.Phe922Ser)
c.2828T>C (p.Phe943Ser)
c.2816T>C (p.Phe939Ser)
dbSNP gnomAD v3 gnomAD v4
2g.144398350A>TCA348706689ZEB2c.*2686T>A (n.*2686T>A)
c.2060T>A (p.Phe687Tyr)
c.2837T>A (p.Phe946Tyr)
n.2806T>A
c.2501T>A (p.Phe834Tyr)
c.2912T>A (p.Phe971Tyr)
c.*2554T>A (n.*2554T>A)
n.2937T>A
c.368T>A (p.Phe123Tyr)
c.2834T>A (p.Phe945Tyr)
c.655+2849T>A (n.655+2849T>A)
c.1168-422T>A (n.1168-422T>A)
c.2765T>A (p.Phe922Tyr)
c.2828T>A (p.Phe943Tyr)
c.2816T>A (p.Phe939Tyr)
2g.144398351A>CCA348706693ZEB2c.*2685T>G (n.*2685T>G)
c.2059T>G (p.Phe687Val)
c.2836T>G (p.Phe946Val)
n.2805T>G
c.2500T>G (p.Phe834Val)
c.2911T>G (p.Phe971Val)
c.*2553T>G (n.*2553T>G)
n.2936T>G
c.367T>G (p.Phe123Val)
c.2833T>G (p.Phe945Val)
c.655+2848T>G (n.655+2848T>G)
c.1168-423T>G (n.1168-423T>G)
c.2764T>G (p.Phe922Val)
c.2827T>G (p.Phe943Val)
c.2815T>G (p.Phe939Val)
2g.144398351A>GCA348706694ZEB2c.*2685T>C (n.*2685T>C)
c.2059T>C (p.Phe687Leu)
c.2836T>C (p.Phe946Leu)
n.2805T>C
c.2500T>C (p.Phe834Leu)
c.2911T>C (p.Phe971Leu)
c.*2553T>C (n.*2553T>C)
n.2936T>C
c.367T>C (p.Phe123Leu)
c.2833T>C (p.Phe945Leu)
c.655+2848T>C (n.655+2848T>C)
c.1168-423T>C (n.1168-423T>C)
c.2764T>C (p.Phe922Leu)
c.2827T>C (p.Phe943Leu)
c.2815T>C (p.Phe939Leu)
gnomAD v4
2g.144398351A>TCA348706696ZEB2c.*2685T>A (n.*2685T>A)
c.2059T>A (p.Phe687Ile)
c.2836T>A (p.Phe946Ile)
n.2805T>A
c.2500T>A (p.Phe834Ile)
c.2911T>A (p.Phe971Ile)
c.*2553T>A (n.*2553T>A)
n.2936T>A
c.367T>A (p.Phe123Ile)
c.2833T>A (p.Phe945Ile)
c.655+2848T>A (n.655+2848T>A)
c.1168-423T>A (n.1168-423T>A)
c.2764T>A (p.Phe922Ile)
c.2827T>A (p.Phe943Ile)
c.2815T>A (p.Phe939Ile)
2g.144398352A>CCA429445000ZEB2c.*2684T>G (n.*2684T>G)
c.2058T>G (p.Thr686=)
c.2835T>G (p.Thr945=)
n.2804T>G
c.2499T>G (p.Thr833=)
c.2910T>G (p.Thr970=)
c.*2552T>G (n.*2552T>G)
n.2935T>G
c.366T>G (p.Thr122=)
c.2832T>G (p.Thr944=)
c.655+2847T>G (n.655+2847T>G)
c.1168-424T>G (n.1168-424T>G)
c.2763T>G (p.Thr921=)
c.2826T>G (p.Thr942=)
c.2814T>G (p.Thr938=)
2g.144398352A>GCA429445002ZEB2c.*2684T>C (n.*2684T>C)
c.2058T>C (p.Thr686=)
c.2835T>C (p.Thr945=)
n.2804T>C
c.2499T>C (p.Thr833=)
c.2910T>C (p.Thr970=)
c.*2552T>C (n.*2552T>C)
n.2935T>C
c.366T>C (p.Thr122=)
c.2832T>C (p.Thr944=)
c.655+2847T>C (n.655+2847T>C)
c.1168-424T>C (n.1168-424T>C)
c.2763T>C (p.Thr921=)
c.2826T>C (p.Thr942=)
c.2814T>C (p.Thr938=)
2g.144398352A>TCA429445001ZEB2c.*2684T>A (n.*2684T>A)
c.2058T>A (p.Thr686=)
c.2835T>A (p.Thr945=)
n.2804T>A
c.2499T>A (p.Thr833=)
c.2910T>A (p.Thr970=)
c.*2552T>A (n.*2552T>A)
n.2935T>A
c.366T>A (p.Thr122=)
c.2832T>A (p.Thr944=)
c.655+2847T>A (n.655+2847T>A)
c.1168-424T>A (n.1168-424T>A)
c.2763T>A (p.Thr921=)
c.2826T>A (p.Thr942=)
c.2814T>A (p.Thr938=)
2g.144398353G>ACA348706699ZEB2c.*2683C>T (n.*2683C>T)
c.2057C>T (p.Thr686Ile)
c.2834C>T (p.Thr945Ile)
n.2803C>T
c.2498C>T (p.Thr833Ile)
c.2909C>T (p.Thr970Ile)
c.*2551C>T (n.*2551C>T)
n.2934C>T
c.365C>T (p.Thr122Ile)
c.2831C>T (p.Thr944Ile)
c.655+2846C>T (n.655+2846C>T)
c.1168-425C>T (n.1168-425C>T)
c.2762C>T (p.Thr921Ile)
c.2825C>T (p.Thr942Ile)
c.2813C>T (p.Thr938Ile)
gnomAD v4
2g.144398353G>CCA348706703ZEB2c.*2683C>G (n.*2683C>G)
c.2057C>G (p.Thr686Ser)
c.2834C>G (p.Thr945Ser)
n.2803C>G
c.2498C>G (p.Thr833Ser)
c.2909C>G (p.Thr970Ser)
c.*2551C>G (n.*2551C>G)
n.2934C>G
c.365C>G (p.Thr122Ser)
c.2831C>G (p.Thr944Ser)
c.655+2846C>G (n.655+2846C>G)
c.1168-425C>G (n.1168-425C>G)
c.2762C>G (p.Thr921Ser)
c.2825C>G (p.Thr942Ser)
c.2813C>G (p.Thr938Ser)
2g.144398353G>TCA348706701ZEB2c.*2683C>A (n.*2683C>A)
c.2057C>A (p.Thr686Asn)
c.2834C>A (p.Thr945Asn)
n.2803C>A
c.2498C>A (p.Thr833Asn)
c.2909C>A (p.Thr970Asn)
c.*2551C>A (n.*2551C>A)
n.2934C>A
c.365C>A (p.Thr122Asn)
c.2831C>A (p.Thr944Asn)
c.655+2846C>A (n.655+2846C>A)
c.1168-425C>A (n.1168-425C>A)
c.2762C>A (p.Thr921Asn)
c.2825C>A (p.Thr942Asn)
c.2813C>A (p.Thr938Asn)
2g.144398354T>ACA348706706ZEB2c.*2682A>T (n.*2682A>T)
c.2056A>T (p.Thr686Ser)
c.2833A>T (p.Thr945Ser)
n.2802A>T
c.2497A>T (p.Thr833Ser)
c.2908A>T (p.Thr970Ser)
c.*2550A>T (n.*2550A>T)
n.2933A>T
c.364A>T (p.Thr122Ser)
c.2830A>T (p.Thr944Ser)
c.655+2845A>T (n.655+2845A>T)
c.1168-426A>T (n.1168-426A>T)
c.2761A>T (p.Thr921Ser)
c.2824A>T (p.Thr942Ser)
c.2812A>T (p.Thr938Ser)
2g.144398354T>CCA348706708ZEB2c.*2682A>G (n.*2682A>G)
c.2056A>G (p.Thr686Ala)
c.2833A>G (p.Thr945Ala)
n.2802A>G
c.2497A>G (p.Thr833Ala)
c.2908A>G (p.Thr970Ala)
c.*2550A>G (n.*2550A>G)
n.2933A>G
c.364A>G (p.Thr122Ala)
c.2830A>G (p.Thr944Ala)
c.655+2845A>G (n.655+2845A>G)
c.1168-426A>G (n.1168-426A>G)
c.2761A>G (p.Thr921Ala)
c.2824A>G (p.Thr942Ala)
c.2812A>G (p.Thr938Ala)
dbSNP
2g.144398354T>GCA348706710ZEB2c.*2682A>C (n.*2682A>C)
c.2056A>C (p.Thr686Pro)
c.2833A>C (p.Thr945Pro)
n.2802A>C
c.2497A>C (p.Thr833Pro)
c.2908A>C (p.Thr970Pro)
c.*2550A>C (n.*2550A>C)
n.2933A>C
c.364A>C (p.Thr122Pro)
c.2830A>C (p.Thr944Pro)
c.655+2845A>C (n.655+2845A>C)
c.1168-426A>C (n.1168-426A>C)
c.2761A>C (p.Thr921Pro)
c.2824A>C (p.Thr942Pro)
c.2812A>C (p.Thr938Pro)
2g.144398354T=CA1294884859ZEB2c.*2682A= (n.*2682A=)
c.2056A= (p.Thr686=)
c.2833A= (p.Thr945=)
n.2802A=
c.2497A= (p.Thr833=)
c.2908A= (p.Thr970=)
c.*2550A= (n.*2550A=)
n.2933A=
c.364A= (p.Thr122=)
c.2830A= (p.Thr944=)
c.655+2845A= (n.655+2845A=)
c.1168-426A= (n.1168-426A=)
c.2761A= (p.Thr921=)
c.2824A= (p.Thr942=)
c.2812A= (p.Thr938=)
2g.144398355A=CA1294884860ZEB2c.*2681T= (n.*2681T=)
c.2055T= (p.Ala685=)
c.2832T= (p.Ala944=)
n.2801T=
c.2496T= (p.Ala832=)
c.2907T= (p.Ala969=)
c.*2549T= (n.*2549T=)
n.2932T=
c.363T= (p.Ala121=)
c.2829T= (p.Ala943=)
c.655+2844T= (n.655+2844T=)
c.1168-427T= (n.1168-427T=)
c.2760T= (p.Ala920=)
c.2823T= (p.Ala941=)
c.2811T= (p.Ala937=)
2g.144398355A>CCA429445008ZEB2c.*2681T>G (n.*2681T>G)
c.2055T>G (p.Ala685=)
c.2832T>G (p.Ala944=)
n.2801T>G
c.2496T>G (p.Ala832=)
c.2907T>G (p.Ala969=)
c.*2549T>G (n.*2549T>G)
n.2932T>G
c.363T>G (p.Ala121=)
c.2829T>G (p.Ala943=)
c.655+2844T>G (n.655+2844T>G)
c.1168-427T>G (n.1168-427T>G)
c.2760T>G (p.Ala920=)
c.2823T>G (p.Ala941=)
c.2811T>G (p.Ala937=)
2g.144398355A>GCA429445007ZEB2c.*2681T>C (n.*2681T>C)
c.2055T>C (p.Ala685=)
c.2832T>C (p.Ala944=)
n.2801T>C
c.2496T>C (p.Ala832=)
c.2907T>C (p.Ala969=)
c.*2549T>C (n.*2549T>C)
n.2932T>C
c.363T>C (p.Ala121=)
c.2829T>C (p.Ala943=)
c.655+2844T>C (n.655+2844T>C)
c.1168-427T>C (n.1168-427T>C)
c.2760T>C (p.Ala920=)
c.2823T>C (p.Ala941=)
c.2811T>C (p.Ala937=)
ClinVar dbSNP gnomAD v2
2g.144398355A>TCA429445006ZEB2c.*2681T>A (n.*2681T>A)
c.2055T>A (p.Ala685=)
c.2832T>A (p.Ala944=)
n.2801T>A
c.2496T>A (p.Ala832=)
c.2907T>A (p.Ala969=)
c.*2549T>A (n.*2549T>A)
n.2932T>A
c.363T>A (p.Ala121=)
c.2829T>A (p.Ala943=)
c.655+2844T>A (n.655+2844T>A)
c.1168-427T>A (n.1168-427T>A)
c.2760T>A (p.Ala920=)
c.2823T>A (p.Ala941=)
c.2811T>A (p.Ala937=)
2g.144398356G>ACA348706713ZEB2c.*2680C>T (n.*2680C>T)
c.2054C>T (p.Ala685Val)
c.2831C>T (p.Ala944Val)
n.2800C>T
c.2495C>T (p.Ala832Val)
c.2906C>T (p.Ala969Val)
c.*2548C>T (n.*2548C>T)
n.2931C>T
c.362C>T (p.Ala121Val)
c.2828C>T (p.Ala943Val)
c.655+2843C>T (n.655+2843C>T)
c.1168-428C>T (n.1168-428C>T)
c.2759C>T (p.Ala920Val)
c.2822C>T (p.Ala941Val)
c.2810C>T (p.Ala937Val)
2g.144398356G>CCA348706714ZEB2c.*2680C>G (n.*2680C>G)
c.2054C>G (p.Ala685Gly)
c.2831C>G (p.Ala944Gly)
n.2800C>G
c.2495C>G (p.Ala832Gly)
c.2906C>G (p.Ala969Gly)
c.*2548C>G (n.*2548C>G)
n.2931C>G
c.362C>G (p.Ala121Gly)
c.2828C>G (p.Ala943Gly)
c.655+2843C>G (n.655+2843C>G)
c.1168-428C>G (n.1168-428C>G)
c.2759C>G (p.Ala920Gly)
c.2822C>G (p.Ala941Gly)
c.2810C>G (p.Ala937Gly)
2g.144398356G>TCA348706716ZEB2c.*2680C>A (n.*2680C>A)
c.2054C>A (p.Ala685Asp)
c.2831C>A (p.Ala944Asp)
n.2800C>A
c.2495C>A (p.Ala832Asp)
c.2906C>A (p.Ala969Asp)
c.*2548C>A (n.*2548C>A)
n.2931C>A
c.362C>A (p.Ala121Asp)
c.2828C>A (p.Ala943Asp)
c.655+2843C>A (n.655+2843C>A)
c.1168-428C>A (n.1168-428C>A)
c.2759C>A (p.Ala920Asp)
c.2822C>A (p.Ala941Asp)
c.2810C>A (p.Ala937Asp)
2g.144398357C>ACA348706719ZEB2c.*2679G>T (n.*2679G>T)
c.2053G>T (p.Ala685Ser)
c.2830G>T (p.Ala944Ser)
n.2799G>T
c.2494G>T (p.Ala832Ser)
c.2905G>T (p.Ala969Ser)
c.*2547G>T (n.*2547G>T)
n.2930G>T
c.361G>T (p.Ala121Ser)
c.2827G>T (p.Ala943Ser)
c.655+2842G>T (n.655+2842G>T)
c.1168-429G>T (n.1168-429G>T)
c.2758G>T (p.Ala920Ser)
c.2821G>T (p.Ala941Ser)
c.2809G>T (p.Ala937Ser)
2g.144398357C>GCA348706721ZEB2c.*2679G>C (n.*2679G>C)
c.2053G>C (p.Ala685Pro)
c.2830G>C (p.Ala944Pro)
n.2799G>C
c.2494G>C (p.Ala832Pro)
c.2905G>C (p.Ala969Pro)
c.*2547G>C (n.*2547G>C)
n.2930G>C
c.361G>C (p.Ala121Pro)
c.2827G>C (p.Ala943Pro)
c.655+2842G>C (n.655+2842G>C)
c.1168-429G>C (n.1168-429G>C)
c.2758G>C (p.Ala920Pro)
c.2821G>C (p.Ala941Pro)
c.2809G>C (p.Ala937Pro)
2g.144398357C>TCA348706723ZEB2c.*2679G>A (n.*2679G>A)
c.2053G>A (p.Ala685Thr)
c.2830G>A (p.Ala944Thr)
n.2799G>A
c.2494G>A (p.Ala832Thr)
c.2905G>A (p.Ala969Thr)
c.*2547G>A (n.*2547G>A)
n.2930G>A
c.361G>A (p.Ala121Thr)
c.2827G>A (p.Ala943Thr)
c.655+2842G>A (n.655+2842G>A)
c.1168-429G>A (n.1168-429G>A)
c.2758G>A (p.Ala920Thr)
c.2821G>A (p.Ala941Thr)
c.2809G>A (p.Ala937Thr)
2g.144398358T>ACA429445011ZEB2c.*2678A>T (n.*2678A>T)
c.2052A>T (p.Ala684=)
c.2829A>T (p.Ala943=)
n.2798A>T
c.2493A>T (p.Ala831=)
c.2904A>T (p.Ala968=)
c.*2546A>T (n.*2546A>T)
n.2929A>T
c.360A>T (p.Ala120=)
c.2826A>T (p.Ala942=)
c.655+2841A>T (n.655+2841A>T)
c.1168-430A>T (n.1168-430A>T)
c.2757A>T (p.Ala919=)
c.2820A>T (p.Ala940=)
c.2808A>T (p.Ala936=)
2g.144398358T>CCA429445014ZEB2c.*2678A>G (n.*2678A>G)
c.2052A>G (p.Ala684=)
c.2829A>G (p.Ala943=)
n.2798A>G
c.2493A>G (p.Ala831=)
c.2904A>G (p.Ala968=)
c.*2546A>G (n.*2546A>G)
n.2929A>G
c.360A>G (p.Ala120=)
c.2826A>G (p.Ala942=)
c.655+2841A>G (n.655+2841A>G)
c.1168-430A>G (n.1168-430A>G)
c.2757A>G (p.Ala919=)
c.2820A>G (p.Ala940=)
c.2808A>G (p.Ala936=)
2g.144398358T>GCA429445012ZEB2c.*2678A>C (n.*2678A>C)
c.2052A>C (p.Ala684=)
c.2829A>C (p.Ala943=)
n.2798A>C
c.2493A>C (p.Ala831=)
c.2904A>C (p.Ala968=)
c.*2546A>C (n.*2546A>C)
n.2929A>C
c.360A>C (p.Ala120=)
c.2826A>C (p.Ala942=)
c.655+2841A>C (n.655+2841A>C)
c.1168-430A>C (n.1168-430A>C)
c.2757A>C (p.Ala919=)
c.2820A>C (p.Ala940=)
c.2808A>C (p.Ala936=)
2g.144398359G>ACA348706726ZEB2c.*2677C>T (n.*2677C>T)
c.2051C>T (p.Ala684Val)
c.2828C>T (p.Ala943Val)
n.2797C>T
c.2492C>T (p.Ala831Val)
c.2903C>T (p.Ala968Val)
c.*2545C>T (n.*2545C>T)
n.2928C>T
c.359C>T (p.Ala120Val)
c.2825C>T (p.Ala942Val)
c.655+2840C>T (n.655+2840C>T)
c.1168-431C>T (n.1168-431C>T)
c.2756C>T (p.Ala919Val)
c.2819C>T (p.Ala940Val)
c.2807C>T (p.Ala936Val)
2g.144398359G>CCA348706728ZEB2c.*2677C>G (n.*2677C>G)
c.2051C>G (p.Ala684Gly)
c.2828C>G (p.Ala943Gly)
n.2797C>G
c.2492C>G (p.Ala831Gly)
c.2903C>G (p.Ala968Gly)
c.*2545C>G (n.*2545C>G)
n.2928C>G
c.359C>G (p.Ala120Gly)
c.2825C>G (p.Ala942Gly)
c.655+2840C>G (n.655+2840C>G)
c.1168-431C>G (n.1168-431C>G)
c.2756C>G (p.Ala919Gly)
c.2819C>G (p.Ala940Gly)
c.2807C>G (p.Ala936Gly)
dbSNP
2g.144398359G=CA1294884861ZEB2c.*2677C= (n.*2677C=)
c.2051C= (p.Ala684=)
c.2828C= (p.Ala943=)
n.2797C=
c.2492C= (p.Ala831=)
c.2903C= (p.Ala968=)
c.*2545C= (n.*2545C=)
n.2928C=
c.359C= (p.Ala120=)
c.2825C= (p.Ala942=)
c.655+2840C= (n.655+2840C=)
c.1168-431C= (n.1168-431C=)
c.2756C= (p.Ala919=)
c.2819C= (p.Ala940=)
c.2807C= (p.Ala936=)
2g.144398359G>TCA348706730ZEB2c.*2677C>A (n.*2677C>A)
c.2051C>A (p.Ala684Glu)
c.2828C>A (p.Ala943Glu)
n.2797C>A
c.2492C>A (p.Ala831Glu)
c.2903C>A (p.Ala968Glu)
c.*2545C>A (n.*2545C>A)
n.2928C>A
c.359C>A (p.Ala120Glu)
c.2825C>A (p.Ala942Glu)
c.655+2840C>A (n.655+2840C>A)
c.1168-431C>A (n.1168-431C>A)
c.2756C>A (p.Ala919Glu)
c.2819C>A (p.Ala940Glu)
c.2807C>A (p.Ala936Glu)
2g.144398360C>ACA348706733ZEB2c.*2676G>T (n.*2676G>T)
c.2050G>T (p.Ala684Ser)
c.2827G>T (p.Ala943Ser)
n.2796G>T
c.2491G>T (p.Ala831Ser)
c.2902G>T (p.Ala968Ser)
c.*2544G>T (n.*2544G>T)
n.2927G>T
c.358G>T (p.Ala120Ser)
c.2824G>T (p.Ala942Ser)
c.655+2839G>T (n.655+2839G>T)
c.1168-432G>T (n.1168-432G>T)
c.2755G>T (p.Ala919Ser)
c.2818G>T (p.Ala940Ser)
c.2806G>T (p.Ala936Ser)
2g.144398360C>GCA348706737ZEB2c.*2676G>C (n.*2676G>C)
c.2050G>C (p.Ala684Pro)
c.2827G>C (p.Ala943Pro)
n.2796G>C
c.2491G>C (p.Ala831Pro)
c.2902G>C (p.Ala968Pro)
c.*2544G>C (n.*2544G>C)
n.2927G>C
c.358G>C (p.Ala120Pro)
c.2824G>C (p.Ala942Pro)
c.655+2839G>C (n.655+2839G>C)
c.1168-432G>C (n.1168-432G>C)
c.2755G>C (p.Ala919Pro)
c.2818G>C (p.Ala940Pro)
c.2806G>C (p.Ala936Pro)
2g.144398360C>TCA348706735ZEB2c.*2676G>A (n.*2676G>A)
c.2050G>A (p.Ala684Thr)
c.2827G>A (p.Ala943Thr)
n.2796G>A
c.2491G>A (p.Ala831Thr)
c.2902G>A (p.Ala968Thr)
c.*2544G>A (n.*2544G>A)
n.2927G>A
c.358G>A (p.Ala120Thr)
c.2824G>A (p.Ala942Thr)
c.655+2839G>A (n.655+2839G>A)
c.1168-432G>A (n.1168-432G>A)
c.2755G>A (p.Ala919Thr)
c.2818G>A (p.Ala940Thr)
c.2806G>A (p.Ala936Thr)
gnomAD v4
2g.144398361T>ACA429445015ZEB2c.*2675A>T (n.*2675A>T)
c.2049A>T (p.Gly683=)
c.2826A>T (p.Gly942=)
n.2795A>T
c.2490A>T (p.Gly830=)
c.2901A>T (p.Gly967=)
c.*2543A>T (n.*2543A>T)
n.2926A>T
c.357A>T (p.Gly119=)
c.2823A>T (p.Gly941=)
c.655+2838A>T (n.655+2838A>T)
c.1168-433A>T (n.1168-433A>T)
c.2754A>T (p.Gly918=)
c.2817A>T (p.Gly939=)
c.2805A>T (p.Gly935=)
2g.144398361T>CCA1898207ZEB2c.*2675A>G (n.*2675A>G)
c.2049A>G (p.Gly683=)
c.2826A>G (p.Gly942=)
n.2795A>G
c.2490A>G (p.Gly830=)
c.2901A>G (p.Gly967=)
c.*2543A>G (n.*2543A>G)
n.2926A>G
c.357A>G (p.Gly119=)
c.2823A>G (p.Gly941=)
c.655+2838A>G (n.655+2838A>G)
c.1168-433A>G (n.1168-433A>G)
c.2754A>G (p.Gly918=)
c.2817A>G (p.Gly939=)
c.2805A>G (p.Gly935=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.144398361T>GCA429445016ZEB2c.*2675A>C (n.*2675A>C)
c.2049A>C (p.Gly683=)
c.2826A>C (p.Gly942=)
n.2795A>C
c.2490A>C (p.Gly830=)
c.2901A>C (p.Gly967=)
c.*2543A>C (n.*2543A>C)
n.2926A>C
c.357A>C (p.Gly119=)
c.2823A>C (p.Gly941=)
c.655+2838A>C (n.655+2838A>C)
c.1168-433A>C (n.1168-433A>C)
c.2754A>C (p.Gly918=)
c.2817A>C (p.Gly939=)
c.2805A>C (p.Gly935=)
2g.144398361T=CA1294884862ZEB2c.*2675A= (n.*2675A=)
c.2049A= (p.Gly683=)
c.2826A= (p.Gly942=)
n.2795A=
c.2490A= (p.Gly830=)
c.2901A= (p.Gly967=)
c.*2543A= (n.*2543A=)
n.2926A=
c.357A= (p.Gly119=)
c.2823A= (p.Gly941=)
c.655+2838A= (n.655+2838A=)
c.1168-433A= (n.1168-433A=)
c.2754A= (p.Gly918=)
c.2817A= (p.Gly939=)
c.2805A= (p.Gly935=)
2g.144398362C>ACA348706746ZEB2c.*2674G>T (n.*2674G>T)
c.2048G>T (p.Gly683Val)
c.2825G>T (p.Gly942Val)
n.2794G>T
c.2489G>T (p.Gly830Val)
c.2900G>T (p.Gly967Val)
c.*2542G>T (n.*2542G>T)
n.2925G>T
c.356G>T (p.Gly119Val)
c.2822G>T (p.Gly941Val)
c.655+2837G>T (n.655+2837G>T)
c.1168-434G>T (n.1168-434G>T)
c.2753G>T (p.Gly918Val)
c.2816G>T (p.Gly939Val)
c.2804G>T (p.Gly935Val)
ClinVar dbSNP
2g.144398362C=CA1294884863ZEB2c.*2674G= (n.*2674G=)
c.2048G= (p.Gly683=)
c.2825G= (p.Gly942=)
n.2794G=
c.2489G= (p.Gly830=)
c.2900G= (p.Gly967=)
c.*2542G= (n.*2542G=)
n.2925G=
c.356G= (p.Gly119=)
c.2822G= (p.Gly941=)
c.655+2837G= (n.655+2837G=)
c.1168-434G= (n.1168-434G=)
c.2753G= (p.Gly918=)
c.2816G= (p.Gly939=)
c.2804G= (p.Gly935=)
2g.144398362C>GCA348706743ZEB2c.*2674G>C (n.*2674G>C)
c.2048G>C (p.Gly683Ala)
c.2825G>C (p.Gly942Ala)
n.2794G>C
c.2489G>C (p.Gly830Ala)
c.2900G>C (p.Gly967Ala)
c.*2542G>C (n.*2542G>C)
n.2925G>C
c.356G>C (p.Gly119Ala)
c.2822G>C (p.Gly941Ala)
c.655+2837G>C (n.655+2837G>C)
c.1168-434G>C (n.1168-434G>C)
c.2753G>C (p.Gly918Ala)
c.2816G>C (p.Gly939Ala)
c.2804G>C (p.Gly935Ala)
2g.144398362C>TCA348706745ZEB2c.*2674G>A (n.*2674G>A)
c.2048G>A (p.Gly683Glu)
c.2825G>A (p.Gly942Glu)
n.2794G>A
c.2489G>A (p.Gly830Glu)
c.2900G>A (p.Gly967Glu)
c.*2542G>A (n.*2542G>A)
n.2925G>A
c.356G>A (p.Gly119Glu)
c.2822G>A (p.Gly941Glu)
c.655+2837G>A (n.655+2837G>A)
c.1168-434G>A (n.1168-434G>A)
c.2753G>A (p.Gly918Glu)
c.2816G>A (p.Gly939Glu)
c.2804G>A (p.Gly935Glu)
gnomAD v4
2g.144398363C>ACA348706749ZEB2c.*2673G>T (n.*2673G>T)
c.2047G>T (p.Gly683Ter)
c.2824G>T (p.Gly942Ter)
n.2793G>T
c.2488G>T (p.Gly830Ter)
c.2899G>T (p.Gly967Ter)
c.*2541G>T (n.*2541G>T)
n.2924G>T
c.355G>T (p.Gly119Ter)
c.2821G>T (p.Gly941Ter)
c.655+2836G>T (n.655+2836G>T)
c.1168-435G>T (n.1168-435G>T)
c.2752G>T (p.Gly918Ter)
c.2815G>T (p.Gly939Ter)
c.2803G>T (p.Gly935Ter)
2g.144398363C=CA1294884864ZEB2c.*2673G= (n.*2673G=)
c.2047G= (p.Gly683=)
c.2824G= (p.Gly942=)
n.2793G=
c.2488G= (p.Gly830=)
c.2899G= (p.Gly967=)
c.*2541G= (n.*2541G=)
n.2924G=
c.355G= (p.Gly119=)
c.2821G= (p.Gly941=)
c.655+2836G= (n.655+2836G=)
c.1168-435G= (n.1168-435G=)
c.2752G= (p.Gly918=)
c.2815G= (p.Gly939=)
c.2803G= (p.Gly935=)
2g.144398363C>GCA348706751ZEB2c.*2673G>C (n.*2673G>C)
c.2047G>C (p.Gly683Arg)
c.2824G>C (p.Gly942Arg)
n.2793G>C
c.2488G>C (p.Gly830Arg)
c.2899G>C (p.Gly967Arg)
c.*2541G>C (n.*2541G>C)
n.2924G>C
c.355G>C (p.Gly119Arg)
c.2821G>C (p.Gly941Arg)
c.655+2836G>C (n.655+2836G>C)
c.1168-435G>C (n.1168-435G>C)
c.2752G>C (p.Gly918Arg)
c.2815G>C (p.Gly939Arg)
c.2803G>C (p.Gly935Arg)
2g.144398363C>TCA348706753ZEB2c.*2673G>A (n.*2673G>A)
c.2047G>A (p.Gly683Arg)
c.2824G>A (p.Gly942Arg)
n.2793G>A
c.2488G>A (p.Gly830Arg)
c.2899G>A (p.Gly967Arg)
c.*2541G>A (n.*2541G>A)
n.2924G>A
c.355G>A (p.Gly119Arg)
c.2821G>A (p.Gly941Arg)
c.655+2836G>A (n.655+2836G>A)
c.1168-435G>A (n.1168-435G>A)
c.2752G>A (p.Gly918Arg)
c.2815G>A (p.Gly939Arg)
c.2803G>A (p.Gly935Arg)
ClinVar dbSNP gnomAD v2 gnomAD v4
2g.144398364A=CA1294884865ZEB2c.*2672T= (n.*2672T=)
c.2046T= (p.Thr682=)
c.2823T= (p.Thr941=)
n.2792T=
c.2487T= (p.Thr829=)
c.2898T= (p.Thr966=)
c.*2540T= (n.*2540T=)
n.2923T=
c.354T= (p.Thr118=)
c.2820T= (p.Thr940=)
c.655+2835T= (n.655+2835T=)
c.1168-436T= (n.1168-436T=)
c.2751T= (p.Thr917=)
c.2814T= (p.Thr938=)
c.2802T= (p.Thr934=)
2g.144398364A>CCA429445018ZEB2c.*2672T>G (n.*2672T>G)
c.2046T>G (p.Thr682=)
c.2823T>G (p.Thr941=)
n.2792T>G
c.2487T>G (p.Thr829=)
c.2898T>G (p.Thr966=)
c.*2540T>G (n.*2540T>G)
n.2923T>G
c.354T>G (p.Thr118=)
c.2820T>G (p.Thr940=)
c.655+2835T>G (n.655+2835T>G)
c.1168-436T>G (n.1168-436T>G)
c.2751T>G (p.Thr917=)
c.2814T>G (p.Thr938=)
c.2802T>G (p.Thr934=)
2g.144398364A>GCA429445019ZEB2c.*2672T>C (n.*2672T>C)
c.2046T>C (p.Thr682=)
c.2823T>C (p.Thr941=)
n.2792T>C
c.2487T>C (p.Thr829=)
c.2898T>C (p.Thr966=)
c.*2540T>C (n.*2540T>C)
n.2923T>C
c.354T>C (p.Thr118=)
c.2820T>C (p.Thr940=)
c.655+2835T>C (n.655+2835T>C)
c.1168-436T>C (n.1168-436T>C)
c.2751T>C (p.Thr917=)
c.2814T>C (p.Thr938=)
c.2802T>C (p.Thr934=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.144398364A>TCA429445021ZEB2c.*2672T>A (n.*2672T>A)
c.2046T>A (p.Thr682=)
c.2823T>A (p.Thr941=)
n.2792T>A
c.2487T>A (p.Thr829=)
c.2898T>A (p.Thr966=)
c.*2540T>A (n.*2540T>A)
n.2923T>A
c.354T>A (p.Thr118=)
c.2820T>A (p.Thr940=)
c.655+2835T>A (n.655+2835T>A)
c.1168-436T>A (n.1168-436T>A)
c.2751T>A (p.Thr917=)
c.2814T>A (p.Thr938=)
c.2802T>A (p.Thr934=)
ClinVar
2g.144398365G>ACA348706760ZEB2c.*2671C>T (n.*2671C>T)
c.2045C>T (p.Thr682Ile)
c.2822C>T (p.Thr941Ile)
n.2791C>T
c.2486C>T (p.Thr829Ile)
c.2897C>T (p.Thr966Ile)
c.*2539C>T (n.*2539C>T)
n.2922C>T
c.353C>T (p.Thr118Ile)
c.2819C>T (p.Thr940Ile)
c.655+2834C>T (n.655+2834C>T)
c.1168-437C>T (n.1168-437C>T)
c.2750C>T (p.Thr917Ile)
c.2813C>T (p.Thr938Ile)
c.2801C>T (p.Thr934Ile)
2g.144398365G>CCA348706758ZEB2c.*2671C>G (n.*2671C>G)
c.2045C>G (p.Thr682Ser)
c.2822C>G (p.Thr941Ser)
n.2791C>G
c.2486C>G (p.Thr829Ser)
c.2897C>G (p.Thr966Ser)
c.*2539C>G (n.*2539C>G)
n.2922C>G
c.353C>G (p.Thr118Ser)
c.2819C>G (p.Thr940Ser)
c.655+2834C>G (n.655+2834C>G)
c.1168-437C>G (n.1168-437C>G)
c.2750C>G (p.Thr917Ser)
c.2813C>G (p.Thr938Ser)
c.2801C>G (p.Thr934Ser)
2g.144398365G>TCA348706756ZEB2c.*2671C>A (n.*2671C>A)
c.2045C>A (p.Thr682Asn)
c.2822C>A (p.Thr941Asn)
n.2791C>A
c.2486C>A (p.Thr829Asn)
c.2897C>A (p.Thr966Asn)
c.*2539C>A (n.*2539C>A)
n.2922C>A
c.353C>A (p.Thr118Asn)
c.2819C>A (p.Thr940Asn)
c.655+2834C>A (n.655+2834C>A)
c.1168-437C>A (n.1168-437C>A)
c.2750C>A (p.Thr917Asn)
c.2813C>A (p.Thr938Asn)
c.2801C>A (p.Thr934Asn)
2g.144398366T>ACA348706764ZEB2c.*2670A>T (n.*2670A>T)
c.2044A>T (p.Thr682Ser)
c.2821A>T (p.Thr941Ser)
n.2790A>T
c.2485A>T (p.Thr829Ser)
c.2896A>T (p.Thr966Ser)
c.*2538A>T (n.*2538A>T)
n.2921A>T
c.352A>T (p.Thr118Ser)
c.2818A>T (p.Thr940Ser)
c.655+2833A>T (n.655+2833A>T)
c.1168-438A>T (n.1168-438A>T)
c.2749A>T (p.Thr917Ser)
c.2812A>T (p.Thr938Ser)
c.2800A>T (p.Thr934Ser)
2g.144398366T>CCA348706765ZEB2c.*2670A>G (n.*2670A>G)
c.2044A>G (p.Thr682Ala)
c.2821A>G (p.Thr941Ala)
n.2790A>G
c.2485A>G (p.Thr829Ala)
c.2896A>G (p.Thr966Ala)
c.*2538A>G (n.*2538A>G)
n.2921A>G
c.352A>G (p.Thr118Ala)
c.2818A>G (p.Thr940Ala)
c.655+2833A>G (n.655+2833A>G)
c.1168-438A>G (n.1168-438A>G)
c.2749A>G (p.Thr917Ala)
c.2812A>G (p.Thr938Ala)
c.2800A>G (p.Thr934Ala)
2g.144398366T>GCA348706767ZEB2c.*2670A>C (n.*2670A>C)
c.2044A>C (p.Thr682Pro)
c.2821A>C (p.Thr941Pro)
n.2790A>C
c.2485A>C (p.Thr829Pro)
c.2896A>C (p.Thr966Pro)
c.*2538A>C (n.*2538A>C)
n.2921A>C
c.352A>C (p.Thr118Pro)
c.2818A>C (p.Thr940Pro)
c.655+2833A>C (n.655+2833A>C)
c.1168-438A>C (n.1168-438A>C)
c.2749A>C (p.Thr917Pro)
c.2812A>C (p.Thr938Pro)
c.2800A>C (p.Thr934Pro)
2g.144398367T>ACA429445023ZEB2c.*2669A>T (n.*2669A>T)
c.2043A>T (p.Pro681=)
c.2820A>T (p.Pro940=)
n.2789A>T
c.2484A>T (p.Pro828=)
c.2895A>T (p.Pro965=)
c.*2537A>T (n.*2537A>T)
n.2920A>T
c.351A>T (p.Pro117=)
c.2817A>T (p.Pro939=)
c.655+2832A>T (n.655+2832A>T)
c.1168-439A>T (n.1168-439A>T)
c.2748A>T (p.Pro916=)
c.2811A>T (p.Pro937=)
c.2799A>T (p.Pro933=)
2g.144398367T>CCA429445024ZEB2c.*2669A>G (n.*2669A>G)
c.2043A>G (p.Pro681=)
c.2820A>G (p.Pro940=)
n.2789A>G
c.2484A>G (p.Pro828=)
c.2895A>G (p.Pro965=)
c.*2537A>G (n.*2537A>G)
n.2920A>G
c.351A>G (p.Pro117=)
c.2817A>G (p.Pro939=)
c.655+2832A>G (n.655+2832A>G)
c.1168-439A>G (n.1168-439A>G)
c.2748A>G (p.Pro916=)
c.2811A>G (p.Pro937=)
c.2799A>G (p.Pro933=)
2g.144398367T>GCA429445025ZEB2c.*2669A>C (n.*2669A>C)
c.2043A>C (p.Pro681=)
c.2820A>C (p.Pro940=)
n.2789A>C
c.2484A>C (p.Pro828=)
c.2895A>C (p.Pro965=)
c.*2537A>C (n.*2537A>C)
n.2920A>C
c.351A>C (p.Pro117=)
c.2817A>C (p.Pro939=)
c.655+2832A>C (n.655+2832A>C)
c.1168-439A>C (n.1168-439A>C)
c.2748A>C (p.Pro916=)
c.2811A>C (p.Pro937=)
c.2799A>C (p.Pro933=)
2g.144398368G>ACA348706771ZEB2c.*2668C>T (n.*2668C>T)
c.2042C>T (p.Pro681Leu)
c.2819C>T (p.Pro940Leu)
n.2788C>T
c.2483C>T (p.Pro828Leu)
c.2894C>T (p.Pro965Leu)
c.*2536C>T (n.*2536C>T)
n.2919C>T
c.350C>T (p.Pro117Leu)
c.2816C>T (p.Pro939Leu)
c.655+2831C>T (n.655+2831C>T)
c.1168-440C>T (n.1168-440C>T)
c.2747C>T (p.Pro916Leu)
c.2810C>T (p.Pro937Leu)
c.2798C>T (p.Pro933Leu)
2g.144398368G>CCA348706773ZEB2c.*2668C>G (n.*2668C>G)
c.2042C>G (p.Pro681Arg)
c.2819C>G (p.Pro940Arg)
n.2788C>G
c.2483C>G (p.Pro828Arg)
c.2894C>G (p.Pro965Arg)
c.*2536C>G (n.*2536C>G)
n.2919C>G
c.350C>G (p.Pro117Arg)
c.2816C>G (p.Pro939Arg)
c.655+2831C>G (n.655+2831C>G)
c.1168-440C>G (n.1168-440C>G)
c.2747C>G (p.Pro916Arg)
c.2810C>G (p.Pro937Arg)
c.2798C>G (p.Pro933Arg)
2g.144398368G>TCA348706775ZEB2c.*2668C>A (n.*2668C>A)
c.2042C>A (p.Pro681Gln)
c.2819C>A (p.Pro940Gln)
n.2788C>A
c.2483C>A (p.Pro828Gln)
c.2894C>A (p.Pro965Gln)
c.*2536C>A (n.*2536C>A)
n.2919C>A
c.350C>A (p.Pro117Gln)
c.2816C>A (p.Pro939Gln)
c.655+2831C>A (n.655+2831C>A)
c.1168-440C>A (n.1168-440C>A)
c.2747C>A (p.Pro916Gln)
c.2810C>A (p.Pro937Gln)
c.2798C>A (p.Pro933Gln)
gnomAD v4
2g.144398369G>ACA348706778ZEB2c.*2667C>T (n.*2667C>T)
c.2041C>T (p.Pro681Ser)
c.2818C>T (p.Pro940Ser)
n.2787C>T
c.2482C>T (p.Pro828Ser)
c.2893C>T (p.Pro965Ser)
c.*2535C>T (n.*2535C>T)
n.2918C>T
c.349C>T (p.Pro117Ser)
c.2815C>T (p.Pro939Ser)
c.655+2830C>T (n.655+2830C>T)
c.1168-441C>T (n.1168-441C>T)
c.2746C>T (p.Pro916Ser)
c.2809C>T (p.Pro937Ser)
c.2797C>T (p.Pro933Ser)
2g.144398369G>CCA348706783ZEB2c.*2667C>G (n.*2667C>G)
c.2041C>G (p.Pro681Ala)
c.2818C>G (p.Pro940Ala)
n.2787C>G
c.2482C>G (p.Pro828Ala)
c.2893C>G (p.Pro965Ala)
c.*2535C>G (n.*2535C>G)
n.2918C>G
c.349C>G (p.Pro117Ala)
c.2815C>G (p.Pro939Ala)
c.655+2830C>G (n.655+2830C>G)
c.1168-441C>G (n.1168-441C>G)
c.2746C>G (p.Pro916Ala)
c.2809C>G (p.Pro937Ala)
c.2797C>G (p.Pro933Ala)
2g.144398369G>TCA348706780ZEB2c.*2667C>A (n.*2667C>A)
c.2041C>A (p.Pro681Thr)
c.2818C>A (p.Pro940Thr)
n.2787C>A
c.2482C>A (p.Pro828Thr)
c.2893C>A (p.Pro965Thr)
c.*2535C>A (n.*2535C>A)
n.2918C>A
c.349C>A (p.Pro117Thr)
c.2815C>A (p.Pro939Thr)
c.655+2830C>A (n.655+2830C>A)
c.1168-441C>A (n.1168-441C>A)
c.2746C>A (p.Pro916Thr)
c.2809C>A (p.Pro937Thr)
c.2797C>A (p.Pro933Thr)
2g.144398370G>ACA429445027ZEB2c.*2666C>T (n.*2666C>T)
c.2040C>T (p.Tyr680=)
c.2817C>T (p.Tyr939=)
n.2786C>T
c.2481C>T (p.Tyr827=)
c.2892C>T (p.Tyr964=)
c.*2534C>T (n.*2534C>T)
n.2917C>T
c.348C>T (p.Tyr116=)
c.2814C>T (p.Tyr938=)
c.655+2829C>T (n.655+2829C>T)
c.1168-442C>T (n.1168-442C>T)
c.2745C>T (p.Tyr915=)
c.2808C>T (p.Tyr936=)
c.2796C>T (p.Tyr932=)
gnomAD v4
2g.144398370G>CCA348706786ZEB2c.*2666C>G (n.*2666C>G)
c.2040C>G (p.Tyr680Ter)
c.2817C>G (p.Tyr939Ter)
n.2786C>G
c.2481C>G (p.Tyr827Ter)
c.2892C>G (p.Tyr964Ter)
c.*2534C>G (n.*2534C>G)
n.2917C>G
c.348C>G (p.Tyr116Ter)
c.2814C>G (p.Tyr938Ter)
c.655+2829C>G (n.655+2829C>G)
c.1168-442C>G (n.1168-442C>G)
c.2745C>G (p.Tyr915Ter)
c.2808C>G (p.Tyr936Ter)
c.2796C>G (p.Tyr932Ter)
2g.144398370G>TCA348706787ZEB2c.*2666C>A (n.*2666C>A)
c.2040C>A (p.Tyr680Ter)
c.2817C>A (p.Tyr939Ter)
n.2786C>A
c.2481C>A (p.Tyr827Ter)
c.2892C>A (p.Tyr964Ter)
c.*2534C>A (n.*2534C>A)
n.2917C>A
c.348C>A (p.Tyr116Ter)
c.2814C>A (p.Tyr938Ter)
c.655+2829C>A (n.655+2829C>A)
c.1168-442C>A (n.1168-442C>A)
c.2745C>A (p.Tyr915Ter)
c.2808C>A (p.Tyr936Ter)
c.2796C>A (p.Tyr932Ter)
2g.144398371T>ACA348706790ZEB2c.*2665A>T (n.*2665A>T)
c.2039A>T (p.Tyr680Phe)
c.2816A>T (p.Tyr939Phe)
n.2785A>T
c.2480A>T (p.Tyr827Phe)
c.2891A>T (p.Tyr964Phe)
c.*2533A>T (n.*2533A>T)
n.2916A>T
c.347A>T (p.Tyr116Phe)
c.2813A>T (p.Tyr938Phe)
c.655+2828A>T (n.655+2828A>T)
c.1168-443A>T (n.1168-443A>T)
c.2744A>T (p.Tyr915Phe)
c.2807A>T (p.Tyr936Phe)
c.2795A>T (p.Tyr932Phe)
2g.144398371T>CCA348706792ZEB2c.*2665A>G (n.*2665A>G)
c.2039A>G (p.Tyr680Cys)
c.2816A>G (p.Tyr939Cys)
n.2785A>G
c.2480A>G (p.Tyr827Cys)
c.2891A>G (p.Tyr964Cys)
c.*2533A>G (n.*2533A>G)
n.2916A>G
c.347A>G (p.Tyr116Cys)
c.2813A>G (p.Tyr938Cys)
c.655+2828A>G (n.655+2828A>G)
c.1168-443A>G (n.1168-443A>G)
c.2744A>G (p.Tyr915Cys)
c.2807A>G (p.Tyr936Cys)
c.2795A>G (p.Tyr932Cys)
gnomAD v4
2g.144398371T>GCA348706794ZEB2c.*2665A>C (n.*2665A>C)
c.2039A>C (p.Tyr680Ser)
c.2816A>C (p.Tyr939Ser)
n.2785A>C
c.2480A>C (p.Tyr827Ser)
c.2891A>C (p.Tyr964Ser)
c.*2533A>C (n.*2533A>C)
n.2916A>C
c.347A>C (p.Tyr116Ser)
c.2813A>C (p.Tyr938Ser)
c.655+2828A>C (n.655+2828A>C)
c.1168-443A>C (n.1168-443A>C)
c.2744A>C (p.Tyr915Ser)
c.2807A>C (p.Tyr936Ser)
c.2795A>C (p.Tyr932Ser)
dbSNP
2g.144398371T=CA1294884866ZEB2c.*2665A= (n.*2665A=)
c.2039A= (p.Tyr680=)
c.2816A= (p.Tyr939=)
n.2785A=
c.2480A= (p.Tyr827=)
c.2891A= (p.Tyr964=)
c.*2533A= (n.*2533A=)
n.2916A=
c.347A= (p.Tyr116=)
c.2813A= (p.Tyr938=)
c.655+2828A= (n.655+2828A=)
c.1168-443A= (n.1168-443A=)
c.2744A= (p.Tyr915=)
c.2807A= (p.Tyr936=)
c.2795A= (p.Tyr932=)
2g.144398372A>CCA348706797ZEB2c.*2664T>G (n.*2664T>G)
c.2038T>G (p.Tyr680Asp)
c.2815T>G (p.Tyr939Asp)
n.2784T>G
c.2479T>G (p.Tyr827Asp)
c.2890T>G (p.Tyr964Asp)
c.*2532T>G (n.*2532T>G)
n.2915T>G
c.346T>G (p.Tyr116Asp)
c.2812T>G (p.Tyr938Asp)
c.655+2827T>G (n.655+2827T>G)
c.1168-444T>G (n.1168-444T>G)
c.2743T>G (p.Tyr915Asp)
c.2806T>G (p.Tyr936Asp)
c.2794T>G (p.Tyr932Asp)
2g.144398372A>GCA348706799ZEB2c.*2664T>C (n.*2664T>C)
c.2038T>C (p.Tyr680His)
c.2815T>C (p.Tyr939His)
n.2784T>C
c.2479T>C (p.Tyr827His)
c.2890T>C (p.Tyr964His)
c.*2532T>C (n.*2532T>C)
n.2915T>C
c.346T>C (p.Tyr116His)
c.2812T>C (p.Tyr938His)
c.655+2827T>C (n.655+2827T>C)
c.1168-444T>C (n.1168-444T>C)
c.2743T>C (p.Tyr915His)
c.2806T>C (p.Tyr936His)
c.2794T>C (p.Tyr932His)
2g.144398372A>TCA348706801ZEB2c.*2664T>A (n.*2664T>A)
c.2038T>A (p.Tyr680Asn)
c.2815T>A (p.Tyr939Asn)
n.2784T>A
c.2479T>A (p.Tyr827Asn)
c.2890T>A (p.Tyr964Asn)
c.*2532T>A (n.*2532T>A)
n.2915T>A
c.346T>A (p.Tyr116Asn)
c.2812T>A (p.Tyr938Asn)
c.655+2827T>A (n.655+2827T>A)
c.1168-444T>A (n.1168-444T>A)
c.2743T>A (p.Tyr915Asn)
c.2806T>A (p.Tyr936Asn)
c.2794T>A (p.Tyr932Asn)
2g.144398373G>ACA429445028ZEB2c.*2663C>T (n.*2663C>T)
c.2037C>T (p.Thr679=)
c.2814C>T (p.Thr938=)
n.2783C>T
c.2478C>T (p.Thr826=)
c.2889C>T (p.Thr963=)
c.*2531C>T (n.*2531C>T)
n.2914C>T
c.345C>T (p.Thr115=)
c.2811C>T (p.Thr937=)
c.655+2826C>T (n.655+2826C>T)
c.1168-445C>T (n.1168-445C>T)
c.2742C>T (p.Thr914=)
c.2805C>T (p.Thr935=)
c.2793C>T (p.Thr931=)
dbSNP gnomAD v2 gnomAD v4
2g.144398373G>CCA429445030ZEB2c.*2663C>G (n.*2663C>G)
c.2037C>G (p.Thr679=)
c.2814C>G (p.Thr938=)
n.2783C>G
c.2478C>G (p.Thr826=)
c.2889C>G (p.Thr963=)
c.*2531C>G (n.*2531C>G)
n.2914C>G
c.345C>G (p.Thr115=)
c.2811C>G (p.Thr937=)
c.655+2826C>G (n.655+2826C>G)
c.1168-445C>G (n.1168-445C>G)
c.2742C>G (p.Thr914=)
c.2805C>G (p.Thr935=)
c.2793C>G (p.Thr931=)
COSMIC
2g.144398373G=CA1294884867ZEB2c.*2663C= (n.*2663C=)
c.2037C= (p.Thr679=)
c.2814C= (p.Thr938=)
n.2783C=
c.2478C= (p.Thr826=)
c.2889C= (p.Thr963=)
c.*2531C= (n.*2531C=)
n.2914C=
c.345C= (p.Thr115=)
c.2811C= (p.Thr937=)
c.655+2826C= (n.655+2826C=)
c.1168-445C= (n.1168-445C=)
c.2742C= (p.Thr914=)
c.2805C= (p.Thr935=)
c.2793C= (p.Thr931=)
2g.144398373G>TCA429445029ZEB2c.*2663C>A (n.*2663C>A)
c.2037C>A (p.Thr679=)
c.2814C>A (p.Thr938=)
n.2783C>A
c.2478C>A (p.Thr826=)
c.2889C>A (p.Thr963=)
c.*2531C>A (n.*2531C>A)
n.2914C>A
c.345C>A (p.Thr115=)
c.2811C>A (p.Thr937=)
c.655+2826C>A (n.655+2826C>A)
c.1168-445C>A (n.1168-445C>A)
c.2742C>A (p.Thr914=)
c.2805C>A (p.Thr935=)
c.2793C>A (p.Thr931=)
2g.144398374G>ACA348706804ZEB2c.*2662C>T (n.*2662C>T)
c.2036C>T (p.Thr679Ile)
c.2813C>T (p.Thr938Ile)
n.2782C>T
c.2477C>T (p.Thr826Ile)
c.2888C>T (p.Thr963Ile)
c.*2530C>T (n.*2530C>T)
n.2913C>T
c.344C>T (p.Thr115Ile)
c.2810C>T (p.Thr937Ile)
c.655+2825C>T (n.655+2825C>T)
c.1168-446C>T (n.1168-446C>T)
c.2741C>T (p.Thr914Ile)
c.2804C>T (p.Thr935Ile)
c.2792C>T (p.Thr931Ile)
dbSNP gnomAD v4
2g.144398374G>CCA348706806ZEB2c.*2662C>G (n.*2662C>G)
c.2036C>G (p.Thr679Ser)
c.2813C>G (p.Thr938Ser)
n.2782C>G
c.2477C>G (p.Thr826Ser)
c.2888C>G (p.Thr963Ser)
c.*2530C>G (n.*2530C>G)
n.2913C>G
c.344C>G (p.Thr115Ser)
c.2810C>G (p.Thr937Ser)
c.655+2825C>G (n.655+2825C>G)
c.1168-446C>G (n.1168-446C>G)
c.2741C>G (p.Thr914Ser)
c.2804C>G (p.Thr935Ser)
c.2792C>G (p.Thr931Ser)
ClinVar gnomAD v4
2g.144398374G=CA1294884868ZEB2c.*2662C= (n.*2662C=)
c.2036C= (p.Thr679=)
c.2813C= (p.Thr938=)
n.2782C=
c.2477C= (p.Thr826=)
c.2888C= (p.Thr963=)
c.*2530C= (n.*2530C=)
n.2913C=
c.344C= (p.Thr115=)
c.2810C= (p.Thr937=)
c.655+2825C= (n.655+2825C=)
c.1168-446C= (n.1168-446C=)
c.2741C= (p.Thr914=)
c.2804C= (p.Thr935=)
c.2792C= (p.Thr931=)
2g.144398374G>TCA348706808ZEB2c.*2662C>A (n.*2662C>A)
c.2036C>A (p.Thr679Asn)
c.2813C>A (p.Thr938Asn)
n.2782C>A
c.2477C>A (p.Thr826Asn)
c.2888C>A (p.Thr963Asn)
c.*2530C>A (n.*2530C>A)
n.2913C>A
c.344C>A (p.Thr115Asn)
c.2810C>A (p.Thr937Asn)
c.655+2825C>A (n.655+2825C>A)
c.1168-446C>A (n.1168-446C>A)
c.2741C>A (p.Thr914Asn)
c.2804C>A (p.Thr935Asn)
c.2792C>A (p.Thr931Asn)
2g.144398375T>ACA348706811ZEB2c.*2661A>T (n.*2661A>T)
c.2035A>T (p.Thr679Ser)
c.2812A>T (p.Thr938Ser)
n.2781A>T
c.2476A>T (p.Thr826Ser)
c.2887A>T (p.Thr963Ser)
c.*2529A>T (n.*2529A>T)
n.2912A>T
c.343A>T (p.Thr115Ser)
c.2809A>T (p.Thr937Ser)
c.655+2824A>T (n.655+2824A>T)
c.1168-447A>T (n.1168-447A>T)
c.2740A>T (p.Thr914Ser)
c.2803A>T (p.Thr935Ser)
c.2791A>T (p.Thr931Ser)
2g.144398375T>CCA348706815ZEB2c.*2661A>G (n.*2661A>G)
c.2035A>G (p.Thr679Ala)
c.2812A>G (p.Thr938Ala)
n.2781A>G
c.2476A>G (p.Thr826Ala)
c.2887A>G (p.Thr963Ala)
c.*2529A>G (n.*2529A>G)
n.2912A>G
c.343A>G (p.Thr115Ala)
c.2809A>G (p.Thr937Ala)
c.655+2824A>G (n.655+2824A>G)
c.1168-447A>G (n.1168-447A>G)
c.2740A>G (p.Thr914Ala)
c.2803A>G (p.Thr935Ala)
c.2791A>G (p.Thr931Ala)
dbSNP gnomAD v2 gnomAD v4
2g.144398375T>GCA348706813ZEB2c.*2661A>C (n.*2661A>C)
c.2035A>C (p.Thr679Pro)
c.2812A>C (p.Thr938Pro)
n.2781A>C
c.2476A>C (p.Thr826Pro)
c.2887A>C (p.Thr963Pro)
c.*2529A>C (n.*2529A>C)
n.2912A>C
c.343A>C (p.Thr115Pro)
c.2809A>C (p.Thr937Pro)
c.655+2824A>C (n.655+2824A>C)
c.1168-447A>C (n.1168-447A>C)
c.2740A>C (p.Thr914Pro)
c.2803A>C (p.Thr935Pro)
c.2791A>C (p.Thr931Pro)
dbSNP
2g.144398375T=CA1294884869ZEB2c.*2661A= (n.*2661A=)
c.2035A= (p.Thr679=)
c.2812A= (p.Thr938=)
n.2781A=
c.2476A= (p.Thr826=)
c.2887A= (p.Thr963=)
c.*2529A= (n.*2529A=)
n.2912A=
c.343A= (p.Thr115=)
c.2809A= (p.Thr937=)
c.655+2824A= (n.655+2824A=)
c.1168-447A= (n.1168-447A=)
c.2740A= (p.Thr914=)
c.2803A= (p.Thr935=)
c.2791A= (p.Thr931=)
2g.144398376G>ACA429445032ZEB2c.*2660C>T (n.*2660C>T)
c.2034C>T (p.Tyr678=)
c.2811C>T (p.Tyr937=)
n.2780C>T
c.2475C>T (p.Tyr825=)
c.2886C>T (p.Tyr962=)
c.*2528C>T (n.*2528C>T)
n.2911C>T
c.342C>T (p.Tyr114=)
c.2808C>T (p.Tyr936=)
c.655+2823C>T (n.655+2823C>T)
c.1168-448C>T (n.1168-448C>T)
c.2739C>T (p.Tyr913=)
c.2802C>T (p.Tyr934=)
c.2790C>T (p.Tyr930=)
2g.144398376G>CCA348706817ZEB2c.*2660C>G (n.*2660C>G)
c.2034C>G (p.Tyr678Ter)
c.2811C>G (p.Tyr937Ter)
n.2780C>G
c.2475C>G (p.Tyr825Ter)
c.2886C>G (p.Tyr962Ter)
c.*2528C>G (n.*2528C>G)
n.2911C>G
c.342C>G (p.Tyr114Ter)
c.2808C>G (p.Tyr936Ter)
c.655+2823C>G (n.655+2823C>G)
c.1168-448C>G (n.1168-448C>G)
c.2739C>G (p.Tyr913Ter)
c.2802C>G (p.Tyr934Ter)
c.2790C>G (p.Tyr930Ter)
2g.144398376G>TCA348706818ZEB2c.*2660C>A (n.*2660C>A)
c.2034C>A (p.Tyr678Ter)
c.2811C>A (p.Tyr937Ter)
n.2780C>A
c.2475C>A (p.Tyr825Ter)
c.2886C>A (p.Tyr962Ter)
c.*2528C>A (n.*2528C>A)
n.2911C>A
c.342C>A (p.Tyr114Ter)
c.2808C>A (p.Tyr936Ter)
c.655+2823C>A (n.655+2823C>A)
c.1168-448C>A (n.1168-448C>A)
c.2739C>A (p.Tyr913Ter)
c.2802C>A (p.Tyr934Ter)
c.2790C>A (p.Tyr930Ter)
2g.144398377T>ACA348706823ZEB2c.*2659A>T (n.*2659A>T)
c.2033A>T (p.Tyr678Phe)
c.2810A>T (p.Tyr937Phe)
n.2779A>T
c.2474A>T (p.Tyr825Phe)
c.2885A>T (p.Tyr962Phe)
c.*2527A>T (n.*2527A>T)
n.2910A>T
c.341A>T (p.Tyr114Phe)
c.2807A>T (p.Tyr936Phe)
c.655+2822A>T (n.655+2822A>T)
c.1168-449A>T (n.1168-449A>T)
c.2738A>T (p.Tyr913Phe)
c.2801A>T (p.Tyr934Phe)
c.2789A>T (p.Tyr930Phe)
2g.144398377T>CCA348706825ZEB2c.*2659A>G (n.*2659A>G)
c.2033A>G (p.Tyr678Cys)
c.2810A>G (p.Tyr937Cys)
n.2779A>G
c.2474A>G (p.Tyr825Cys)
c.2885A>G (p.Tyr962Cys)
c.*2527A>G (n.*2527A>G)
n.2910A>G
c.341A>G (p.Tyr114Cys)
c.2807A>G (p.Tyr936Cys)
c.655+2822A>G (n.655+2822A>G)
c.1168-449A>G (n.1168-449A>G)
c.2738A>G (p.Tyr913Cys)
c.2801A>G (p.Tyr934Cys)
c.2789A>G (p.Tyr930Cys)
2g.144398377T>GCA348706827ZEB2c.*2659A>C (n.*2659A>C)
c.2033A>C (p.Tyr678Ser)
c.2810A>C (p.Tyr937Ser)
n.2779A>C
c.2474A>C (p.Tyr825Ser)
c.2885A>C (p.Tyr962Ser)
c.*2527A>C (n.*2527A>C)
n.2910A>C
c.341A>C (p.Tyr114Ser)
c.2807A>C (p.Tyr936Ser)
c.655+2822A>C (n.655+2822A>C)
c.1168-449A>C (n.1168-449A>C)
c.2738A>C (p.Tyr913Ser)
c.2801A>C (p.Tyr934Ser)
c.2789A>C (p.Tyr930Ser)
2g.144398378A>CCA348706830ZEB2c.*2658T>G (n.*2658T>G)
c.2032T>G (p.Tyr678Asp)
c.2809T>G (p.Tyr937Asp)
n.2778T>G
c.2473T>G (p.Tyr825Asp)
c.2884T>G (p.Tyr962Asp)
c.*2526T>G (n.*2526T>G)
n.2909T>G
c.340T>G (p.Tyr114Asp)
c.2806T>G (p.Tyr936Asp)
c.655+2821T>G (n.655+2821T>G)
c.1168-450T>G (n.1168-450T>G)
c.2737T>G (p.Tyr913Asp)
c.2800T>G (p.Tyr934Asp)
c.2788T>G (p.Tyr930Asp)
2g.144398378A>GCA348706832ZEB2c.*2658T>C (n.*2658T>C)
c.2032T>C (p.Tyr678His)
c.2809T>C (p.Tyr937His)
n.2778T>C
c.2473T>C (p.Tyr825His)
c.2884T>C (p.Tyr962His)
c.*2526T>C (n.*2526T>C)
n.2909T>C
c.340T>C (p.Tyr114His)
c.2806T>C (p.Tyr936His)
c.655+2821T>C (n.655+2821T>C)
c.1168-450T>C (n.1168-450T>C)
c.2737T>C (p.Tyr913His)
c.2800T>C (p.Tyr934His)
c.2788T>C (p.Tyr930His)
COSMIC
2g.144398378A>TCA348706835ZEB2c.*2658T>A (n.*2658T>A)
c.2032T>A (p.Tyr678Asn)
c.2809T>A (p.Tyr937Asn)
n.2778T>A
c.2473T>A (p.Tyr825Asn)
c.2884T>A (p.Tyr962Asn)
c.*2526T>A (n.*2526T>A)
n.2909T>A
c.340T>A (p.Tyr114Asn)
c.2806T>A (p.Tyr936Asn)
c.655+2821T>A (n.655+2821T>A)
c.1168-450T>A (n.1168-450T>A)
c.2737T>A (p.Tyr913Asn)
c.2800T>A (p.Tyr934Asn)
c.2788T>A (p.Tyr930Asn)
2g.144398379G>ACA429445036ZEB2c.*2657C>T (n.*2657C>T)
c.2031C>T (p.Ala677=)
c.2808C>T (p.Ala936=)
n.2777C>T
c.2472C>T (p.Ala824=)
c.2883C>T (p.Ala961=)
c.*2525C>T (n.*2525C>T)
n.2908C>T
c.339C>T (p.Ala113=)
c.2805C>T (p.Ala935=)
c.655+2820C>T (n.655+2820C>T)
c.1168-451C>T (n.1168-451C>T)
c.2736C>T (p.Ala912=)
c.2799C>T (p.Ala933=)
c.2787C>T (p.Ala929=)
ClinVar dbSNP gnomAD v2 gnomAD v4
2g.144398379G>CCA1898208ZEB2c.*2657C>G (n.*2657C>G)
c.2031C>G (p.Ala677=)
c.2808C>G (p.Ala936=)
n.2777C>G
c.2472C>G (p.Ala824=)
c.2883C>G (p.Ala961=)
c.*2525C>G (n.*2525C>G)
n.2908C>G
c.339C>G (p.Ala113=)
c.2805C>G (p.Ala935=)
c.655+2820C>G (n.655+2820C>G)
c.1168-451C>G (n.1168-451C>G)
c.2736C>G (p.Ala912=)
c.2799C>G (p.Ala933=)
c.2787C>G (p.Ala929=)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.144398379G=CA1294884870ZEB2c.*2657C= (n.*2657C=)
c.2031C= (p.Ala677=)
c.2808C= (p.Ala936=)
n.2777C=
c.2472C= (p.Ala824=)
c.2883C= (p.Ala961=)
c.*2525C= (n.*2525C=)
n.2908C=
c.339C= (p.Ala113=)
c.2805C= (p.Ala935=)
c.655+2820C= (n.655+2820C=)
c.1168-451C= (n.1168-451C=)
c.2736C= (p.Ala912=)
c.2799C= (p.Ala933=)
c.2787C= (p.Ala929=)
2g.144398379G>TCA429445037ZEB2c.*2657C>A (n.*2657C>A)
c.2031C>A (p.Ala677=)
c.2808C>A (p.Ala936=)
n.2777C>A
c.2472C>A (p.Ala824=)
c.2883C>A (p.Ala961=)
c.*2525C>A (n.*2525C>A)
n.2908C>A
c.339C>A (p.Ala113=)
c.2805C>A (p.Ala935=)
c.655+2820C>A (n.655+2820C>A)
c.1168-451C>A (n.1168-451C>A)
c.2736C>A (p.Ala912=)
c.2799C>A (p.Ala933=)
c.2787C>A (p.Ala929=)
2g.144398380G>ACA348706838ZEB2c.*2656C>T (n.*2656C>T)
c.2030C>T (p.Ala677Val)
c.2807C>T (p.Ala936Val)
n.2776C>T
c.2471C>T (p.Ala824Val)
c.2882C>T (p.Ala961Val)
c.*2524C>T (n.*2524C>T)
n.2907C>T
c.338C>T (p.Ala113Val)
c.2804C>T (p.Ala935Val)
c.655+2819C>T (n.655+2819C>T)
c.1168-452C>T (n.1168-452C>T)
c.2735C>T (p.Ala912Val)
c.2798C>T (p.Ala933Val)
c.2786C>T (p.Ala929Val)
2g.144398380G>CCA57554715ZEB2c.*2656C>G (n.*2656C>G)
c.2030C>G (p.Ala677Gly)
c.2807C>G (p.Ala936Gly)
n.2776C>G
c.2471C>G (p.Ala824Gly)
c.2882C>G (p.Ala961Gly)
c.*2524C>G (n.*2524C>G)
n.2907C>G
c.338C>G (p.Ala113Gly)
c.2804C>G (p.Ala935Gly)
c.655+2819C>G (n.655+2819C>G)
c.1168-452C>G (n.1168-452C>G)
c.2735C>G (p.Ala912Gly)
c.2798C>G (p.Ala933Gly)
c.2786C>G (p.Ala929Gly)
dbSNP
2g.144398380G=CA1294884872ZEB2c.*2656C= (n.*2656C=)
c.2030C= (p.Ala677=)
c.2807C= (p.Ala936=)
n.2776C=
c.2471C= (p.Ala824=)
c.2882C= (p.Ala961=)
c.*2524C= (n.*2524C=)
n.2907C=
c.338C= (p.Ala113=)
c.2804C= (p.Ala935=)
c.655+2819C= (n.655+2819C=)
c.1168-452C= (n.1168-452C=)
c.2735C= (p.Ala912=)
c.2798C= (p.Ala933=)
c.2786C= (p.Ala929=)
2g.144398380G>TCA348706841ZEB2c.*2656C>A (n.*2656C>A)
c.2030C>A (p.Ala677Asp)
c.2807C>A (p.Ala936Asp)
n.2776C>A
c.2471C>A (p.Ala824Asp)
c.2882C>A (p.Ala961Asp)
c.*2524C>A (n.*2524C>A)
n.2907C>A
c.338C>A (p.Ala113Asp)
c.2804C>A (p.Ala935Asp)
c.655+2819C>A (n.655+2819C>A)
c.1168-452C>A (n.1168-452C>A)
c.2735C>A (p.Ala912Asp)
c.2798C>A (p.Ala933Asp)
c.2786C>A (p.Ala929Asp)
2g.144398380_144398381delinsGCCA1294884871ZEB2c.*2655_*2656delinsGC (n.*2655_*2656delinsGC)
c.2029_2030delinsGC (p.Ala677=)
c.2806_2807delinsGC (p.Ala936=)
n.2775_2776delinsGC
c.2470_2471delinsGC (p.Ala824=)
c.2881_2882delinsGC (p.Ala961=)
c.*2523_*2524delinsGC (n.*2523_*2524delinsGC)
n.2906_2907delinsGC
c.337_338delinsGC (p.Ala113=)
c.2803_2804delinsGC (p.Ala935=)
c.655+2818_655+2819delinsGC (n.655+2818_655+2819delinsGC)
c.1168-453_1168-452delinsGC (n.1168-453_1168-452delinsGC)
c.2734_2735delinsGC (p.Ala912=)
c.2797_2798delinsGC (p.Ala933=)
c.2785_2786delinsGC (p.Ala929=)
2g.144398381C>ACA348706848ZEB2c.*2655G>T (n.*2655G>T)
c.2029G>T (p.Ala677Ser)
c.2806G>T (p.Ala936Ser)
n.2775G>T
c.2470G>T (p.Ala824Ser)
c.2881G>T (p.Ala961Ser)
c.*2523G>T (n.*2523G>T)
n.2906G>T
c.337G>T (p.Ala113Ser)
c.2803G>T (p.Ala935Ser)
c.655+2818G>T (n.655+2818G>T)
c.1168-453G>T (n.1168-453G>T)
c.2734G>T (p.Ala912Ser)
c.2797G>T (p.Ala933Ser)
c.2785G>T (p.Ala929Ser)
2g.144398381C>GCA348706844ZEB2c.*2655G>C (n.*2655G>C)
c.2029G>C (p.Ala677Pro)
c.2806G>C (p.Ala936Pro)
n.2775G>C
c.2470G>C (p.Ala824Pro)
c.2881G>C (p.Ala961Pro)
c.*2523G>C (n.*2523G>C)
n.2906G>C
c.337G>C (p.Ala113Pro)
c.2803G>C (p.Ala935Pro)
c.655+2818G>C (n.655+2818G>C)
c.1168-453G>C (n.1168-453G>C)
c.2734G>C (p.Ala912Pro)
c.2797G>C (p.Ala933Pro)
c.2785G>C (p.Ala929Pro)
gnomAD v4
2g.144398381C>TCA348706846ZEB2c.*2655G>A (n.*2655G>A)
c.2029G>A (p.Ala677Thr)
c.2806G>A (p.Ala936Thr)
n.2775G>A
c.2470G>A (p.Ala824Thr)
c.2881G>A (p.Ala961Thr)
c.*2523G>A (n.*2523G>A)
n.2906G>A
c.337G>A (p.Ala113Thr)
c.2803G>A (p.Ala935Thr)
c.655+2818G>A (n.655+2818G>A)
c.1168-453G>A (n.1168-453G>A)
c.2734G>A (p.Ala912Thr)
c.2797G>A (p.Ala933Thr)
c.2785G>A (p.Ala929Thr)
2g.144398382delCA658795858ZEB2c.*2655del (n.*2655del)
c.2029del (p.Ala677ProfsTer?)
c.2806del (p.Ala936ProfsTer?)
n.2775del
c.2470del (p.Ala824ProfsTer?)
c.2881del (p.Ala961ProfsTer?)
c.*2523del (n.*2523del)
n.2906del
c.337del (p.Ala113ProfsTer?)
c.2803del (p.Ala935ProfsTer?)
c.655+2818del (n.655+2818del)
c.1168-453del (n.1168-453del)
c.2734del (p.Ala912ProfsTer?)
c.2797del (p.Ala933ProfsTer?)
c.2785del (p.Ala929ProfsTer?)
ClinVar dbSNP
2g.144398382C>ACA348706851ZEB2c.*2654G>T (n.*2654G>T)
c.2028G>T (p.Met676Ile)
c.2805G>T (p.Met935Ile)
n.2774G>T
c.2469G>T (p.Met823Ile)
c.2880G>T (p.Met960Ile)
c.*2522G>T (n.*2522G>T)
n.2905G>T
c.336G>T (p.Met112Ile)
c.2802G>T (p.Met934Ile)
c.655+2817G>T (n.655+2817G>T)
c.1168-454G>T (n.1168-454G>T)
c.2733G>T (p.Met911Ile)
c.2796G>T (p.Met932Ile)
c.2784G>T (p.Met928Ile)
2g.144398382C>GCA348706853ZEB2c.*2654G>C (n.*2654G>C)
c.2028G>C (p.Met676Ile)
c.2805G>C (p.Met935Ile)
n.2774G>C
c.2469G>C (p.Met823Ile)
c.2880G>C (p.Met960Ile)
c.*2522G>C (n.*2522G>C)
n.2905G>C
c.336G>C (p.Met112Ile)
c.2802G>C (p.Met934Ile)
c.655+2817G>C (n.655+2817G>C)
c.1168-454G>C (n.1168-454G>C)
c.2733G>C (p.Met911Ile)
c.2796G>C (p.Met932Ile)
c.2784G>C (p.Met928Ile)
2g.144398382C>TCA348706854ZEB2c.*2654G>A (n.*2654G>A)
c.2028G>A (p.Met676Ile)
c.2805G>A (p.Met935Ile)
n.2774G>A
c.2469G>A (p.Met823Ile)
c.2880G>A (p.Met960Ile)
c.*2522G>A (n.*2522G>A)
n.2905G>A
c.336G>A (p.Met112Ile)
c.2802G>A (p.Met934Ile)
c.655+2817G>A (n.655+2817G>A)
c.1168-454G>A (n.1168-454G>A)
c.2733G>A (p.Met911Ile)
c.2796G>A (p.Met932Ile)
c.2784G>A (p.Met928Ile)
2g.144398383A=CA1294884873ZEB2c.*2653T= (n.*2653T=)
c.2027T= (p.Met676=)
c.2804T= (p.Met935=)
n.2773T=
c.2468T= (p.Met823=)
c.2879T= (p.Met960=)
c.*2521T= (n.*2521T=)
n.2904T=
c.335T= (p.Met112=)
c.2801T= (p.Met934=)
c.655+2816T= (n.655+2816T=)
c.1168-455T= (n.1168-455T=)
c.2732T= (p.Met911=)
c.2795T= (p.Met932=)
c.2783T= (p.Met928=)
2g.144398383A>CCA348706857ZEB2c.*2653T>G (n.*2653T>G)
c.2027T>G (p.Met676Arg)
c.2804T>G (p.Met935Arg)
n.2773T>G
c.2468T>G (p.Met823Arg)
c.2879T>G (p.Met960Arg)
c.*2521T>G (n.*2521T>G)
n.2904T>G
c.335T>G (p.Met112Arg)
c.2801T>G (p.Met934Arg)
c.655+2816T>G (n.655+2816T>G)
c.1168-455T>G (n.1168-455T>G)
c.2732T>G (p.Met911Arg)
c.2795T>G (p.Met932Arg)
c.2783T>G (p.Met928Arg)
2g.144398383A>GCA1898209ZEB2c.*2653T>C (n.*2653T>C)
c.2027T>C (p.Met676Thr)
c.2804T>C (p.Met935Thr)
n.2773T>C
c.2468T>C (p.Met823Thr)
c.2879T>C (p.Met960Thr)
c.*2521T>C (n.*2521T>C)
n.2904T>C
c.335T>C (p.Met112Thr)
c.2801T>C (p.Met934Thr)
c.655+2816T>C (n.655+2816T>C)
c.1168-455T>C (n.1168-455T>C)
c.2732T>C (p.Met911Thr)
c.2795T>C (p.Met932Thr)
c.2783T>C (p.Met928Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.144398383A>TCA348706860ZEB2c.*2653T>A (n.*2653T>A)
c.2027T>A (p.Met676Lys)
c.2804T>A (p.Met935Lys)
n.2773T>A
c.2468T>A (p.Met823Lys)
c.2879T>A (p.Met960Lys)
c.*2521T>A (n.*2521T>A)
n.2904T>A
c.335T>A (p.Met112Lys)
c.2801T>A (p.Met934Lys)
c.655+2816T>A (n.655+2816T>A)
c.1168-455T>A (n.1168-455T>A)
c.2732T>A (p.Met911Lys)
c.2795T>A (p.Met932Lys)
c.2783T>A (p.Met928Lys)
2g.144398384T>ACA348706863ZEB2c.*2652A>T (n.*2652A>T)
c.2026A>T (p.Met676Leu)
c.2803A>T (p.Met935Leu)
n.2772A>T
c.2467A>T (p.Met823Leu)
c.2878A>T (p.Met960Leu)
c.*2520A>T (n.*2520A>T)
n.2903A>T
c.334A>T (p.Met112Leu)
c.2800A>T (p.Met934Leu)
c.655+2815A>T (n.655+2815A>T)
c.1168-456A>T (n.1168-456A>T)
c.2731A>T (p.Met911Leu)
c.2794A>T (p.Met932Leu)
c.2782A>T (p.Met928Leu)
2g.144398384T>CCA348706865ZEB2c.*2652A>G (n.*2652A>G)
c.2026A>G (p.Met676Val)
c.2803A>G (p.Met935Val)
n.2772A>G
c.2467A>G (p.Met823Val)
c.2878A>G (p.Met960Val)
c.*2520A>G (n.*2520A>G)
n.2903A>G
c.334A>G (p.Met112Val)
c.2800A>G (p.Met934Val)
c.655+2815A>G (n.655+2815A>G)
c.1168-456A>G (n.1168-456A>G)
c.2731A>G (p.Met911Val)
c.2794A>G (p.Met932Val)
c.2782A>G (p.Met928Val)
dbSNP
2g.144398384T>GCA348706867ZEB2c.*2652A>C (n.*2652A>C)
c.2026A>C (p.Met676Leu)
c.2803A>C (p.Met935Leu)
n.2772A>C
c.2467A>C (p.Met823Leu)
c.2878A>C (p.Met960Leu)
c.*2520A>C (n.*2520A>C)
n.2903A>C
c.334A>C (p.Met112Leu)
c.2800A>C (p.Met934Leu)
c.655+2815A>C (n.655+2815A>C)
c.1168-456A>C (n.1168-456A>C)
c.2731A>C (p.Met911Leu)
c.2794A>C (p.Met932Leu)
c.2782A>C (p.Met928Leu)
gnomAD v4
2g.144398384dupCA1139655625ZEB2c.*2652dup (n.*2652dup)
c.2026dup (p.Met676AsnfsTer14)
c.2803dup (p.Met935AsnfsTer14)
n.2772dup
c.2467dup (p.Met823AsnfsTer14)
c.2878dup (p.Met960AsnfsTer14)
c.*2520dup (n.*2520dup)
n.2903dup
c.334dup (p.Met112AsnfsTer14)
c.2800dup (p.Met934AsnfsTer14)
c.655+2815dup (n.655+2815dup)
c.1168-456dup (n.1168-456dup)
c.2731dup (p.Met911AsnfsTer14)
c.2794dup (p.Met932AsnfsTer14)
c.2782dup (p.Met928AsnfsTer14)
ClinVar dbSNP
2g.144398385A=CA1294884874ZEB2c.*2651T= (n.*2651T=)
c.2025T= (p.His675=)
c.2802T= (p.His934=)
n.2771T=
c.2466T= (p.His822=)
c.2877T= (p.His959=)
c.*2519T= (n.*2519T=)
n.2902T=
c.333T= (p.His111=)
c.2799T= (p.His933=)
c.655+2814T= (n.655+2814T=)
c.1168-457T= (n.1168-457T=)
c.2730T= (p.His910=)
c.2793T= (p.His931=)
c.2781T= (p.His927=)
2g.144398385A>CCA348706870ZEB2c.*2651T>G (n.*2651T>G)
c.2025T>G (p.His675Gln)
c.2802T>G (p.His934Gln)
n.2771T>G
c.2466T>G (p.His822Gln)
c.2877T>G (p.His959Gln)
c.*2519T>G (n.*2519T>G)
n.2902T>G
c.333T>G (p.His111Gln)
c.2799T>G (p.His933Gln)
c.655+2814T>G (n.655+2814T>G)
c.1168-457T>G (n.1168-457T>G)
c.2730T>G (p.His910Gln)
c.2793T>G (p.His931Gln)
c.2781T>G (p.His927Gln)
2g.144398385A>GCA429445040ZEB2c.*2651T>C (n.*2651T>C)
c.2025T>C (p.His675=)
c.2802T>C (p.His934=)
n.2771T>C
c.2466T>C (p.His822=)
c.2877T>C (p.His959=)
c.*2519T>C (n.*2519T>C)
n.2902T>C
c.333T>C (p.His111=)
c.2799T>C (p.His933=)
c.655+2814T>C (n.655+2814T>C)
c.1168-457T>C (n.1168-457T>C)
c.2730T>C (p.His910=)
c.2793T>C (p.His931=)
c.2781T>C (p.His927=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.144398385A>TCA348706872ZEB2c.*2651T>A (n.*2651T>A)
c.2025T>A (p.His675Gln)
c.2802T>A (p.His934Gln)
n.2771T>A
c.2466T>A (p.His822Gln)
c.2877T>A (p.His959Gln)
c.*2519T>A (n.*2519T>A)
n.2902T>A
c.333T>A (p.His111Gln)
c.2799T>A (p.His933Gln)
c.655+2814T>A (n.655+2814T>A)
c.1168-457T>A (n.1168-457T>A)
c.2730T>A (p.His910Gln)
c.2793T>A (p.His931Gln)
c.2781T>A (p.His927Gln)
2g.144398386T>ACA348706877ZEB2c.*2650A>T (n.*2650A>T)
c.2024A>T (p.His675Leu)
c.2801A>T (p.His934Leu)
n.2770A>T
c.2465A>T (p.His822Leu)
c.2876A>T (p.His959Leu)
c.*2518A>T (n.*2518A>T)
n.2901A>T
c.332A>T (p.His111Leu)
c.2798A>T (p.His933Leu)
c.655+2813A>T (n.655+2813A>T)
c.1168-458A>T (n.1168-458A>T)
c.2729A>T (p.His910Leu)
c.2792A>T (p.His931Leu)
c.2780A>T (p.His927Leu)
2g.144398386T>CCA348706879ZEB2c.*2650A>G (n.*2650A>G)
c.2024A>G (p.His675Arg)
c.2801A>G (p.His934Arg)
n.2770A>G
c.2465A>G (p.His822Arg)
c.2876A>G (p.His959Arg)
c.*2518A>G (n.*2518A>G)
n.2901A>G
c.332A>G (p.His111Arg)
c.2798A>G (p.His933Arg)
c.655+2813A>G (n.655+2813A>G)
c.1168-458A>G (n.1168-458A>G)
c.2729A>G (p.His910Arg)
c.2792A>G (p.His931Arg)
c.2780A>G (p.His927Arg)
gnomAD v4
2g.144398386T>GCA348706875ZEB2c.*2650A>C (n.*2650A>C)
c.2024A>C (p.His675Pro)
c.2801A>C (p.His934Pro)
n.2770A>C
c.2465A>C (p.His822Pro)
c.2876A>C (p.His959Pro)
c.*2518A>C (n.*2518A>C)
n.2901A>C
c.332A>C (p.His111Pro)
c.2798A>C (p.His933Pro)
c.655+2813A>C (n.655+2813A>C)
c.1168-458A>C (n.1168-458A>C)
c.2729A>C (p.His910Pro)
c.2792A>C (p.His931Pro)
c.2780A>C (p.His927Pro)
2g.144398387G>ACA348706882ZEB2c.*2649C>T (n.*2649C>T)
c.2023C>T (p.His675Tyr)
c.2800C>T (p.His934Tyr)
n.2769C>T
c.2464C>T (p.His822Tyr)
c.2875C>T (p.His959Tyr)
c.*2517C>T (n.*2517C>T)
n.2900C>T
c.331C>T (p.His111Tyr)
c.2797C>T (p.His933Tyr)
c.655+2812C>T (n.655+2812C>T)
c.1168-459C>T (n.1168-459C>T)
c.2728C>T (p.His910Tyr)
c.2791C>T (p.His931Tyr)
c.2779C>T (p.His927Tyr)
2g.144398387G>CCA348706883ZEB2c.*2649C>G (n.*2649C>G)
c.2023C>G (p.His675Asp)
c.2800C>G (p.His934Asp)
n.2769C>G
c.2464C>G (p.His822Asp)
c.2875C>G (p.His959Asp)
c.*2517C>G (n.*2517C>G)
n.2900C>G
c.331C>G (p.His111Asp)
c.2797C>G (p.His933Asp)
c.655+2812C>G (n.655+2812C>G)
c.1168-459C>G (n.1168-459C>G)
c.2728C>G (p.His910Asp)
c.2791C>G (p.His931Asp)
c.2779C>G (p.His927Asp)
gnomAD v4
2g.144398387G>TCA348706885ZEB2c.*2649C>A (n.*2649C>A)
c.2023C>A (p.His675Asn)
c.2800C>A (p.His934Asn)
n.2769C>A
c.2464C>A (p.His822Asn)
c.2875C>A (p.His959Asn)
c.*2517C>A (n.*2517C>A)
n.2900C>A
c.331C>A (p.His111Asn)
c.2797C>A (p.His933Asn)
c.655+2812C>A (n.655+2812C>A)
c.1168-459C>A (n.1168-459C>A)
c.2728C>A (p.His910Asn)
c.2791C>A (p.His931Asn)
c.2779C>A (p.His927Asn)
2g.144398388T>ACA429445043ZEB2c.*2648A>T (n.*2648A>T)
c.2022A>T (p.Pro674=)
c.2799A>T (p.Pro933=)
n.2768A>T
c.2463A>T (p.Pro821=)
c.2874A>T (p.Pro958=)
c.*2516A>T (n.*2516A>T)
n.2899A>T
c.330A>T (p.Pro110=)
c.2796A>T (p.Pro932=)
c.655+2811A>T (n.655+2811A>T)
c.1168-460A>T (n.1168-460A>T)
c.2727A>T (p.Pro909=)
c.2790A>T (p.Pro930=)
c.2778A>T (p.Pro926=)
gnomAD v4
2g.144398388T>CCA429445041ZEB2c.*2648A>G (n.*2648A>G)
c.2022A>G (p.Pro674=)
c.2799A>G (p.Pro933=)
n.2768A>G
c.2463A>G (p.Pro821=)
c.2874A>G (p.Pro958=)
c.*2516A>G (n.*2516A>G)
n.2899A>G
c.330A>G (p.Pro110=)
c.2796A>G (p.Pro932=)
c.655+2811A>G (n.655+2811A>G)
c.1168-460A>G (n.1168-460A>G)
c.2727A>G (p.Pro909=)
c.2790A>G (p.Pro930=)
c.2778A>G (p.Pro926=)
gnomAD v4
2g.144398388T>GCA429445042ZEB2c.*2648A>C (n.*2648A>C)
c.2022A>C (p.Pro674=)
c.2799A>C (p.Pro933=)
n.2768A>C
c.2463A>C (p.Pro821=)
c.2874A>C (p.Pro958=)
c.*2516A>C (n.*2516A>C)
n.2899A>C
c.330A>C (p.Pro110=)
c.2796A>C (p.Pro932=)
c.655+2811A>C (n.655+2811A>C)
c.1168-460A>C (n.1168-460A>C)
c.2727A>C (p.Pro909=)
c.2790A>C (p.Pro930=)
c.2778A>C (p.Pro926=)
2g.144398389G>ACA348706888ZEB2c.*2647C>T (n.*2647C>T)
c.2021C>T (p.Pro674Leu)
c.2798C>T (p.Pro933Leu)
n.2767C>T
c.2462C>T (p.Pro821Leu)
c.2873C>T (p.Pro958Leu)
c.*2515C>T (n.*2515C>T)
n.2898C>T
c.329C>T (p.Pro110Leu)
c.2795C>T (p.Pro932Leu)
c.655+2810C>T (n.655+2810C>T)
c.1168-461C>T (n.1168-461C>T)
c.2726C>T (p.Pro909Leu)
c.2789C>T (p.Pro930Leu)
c.2777C>T (p.Pro926Leu)
2g.144398389G>CCA348706890ZEB2c.*2647C>G (n.*2647C>G)
c.2021C>G (p.Pro674Arg)
c.2798C>G (p.Pro933Arg)
n.2767C>G
c.2462C>G (p.Pro821Arg)
c.2873C>G (p.Pro958Arg)
c.*2515C>G (n.*2515C>G)
n.2898C>G
c.329C>G (p.Pro110Arg)
c.2795C>G (p.Pro932Arg)
c.655+2810C>G (n.655+2810C>G)
c.1168-461C>G (n.1168-461C>G)
c.2726C>G (p.Pro909Arg)
c.2789C>G (p.Pro930Arg)
c.2777C>G (p.Pro926Arg)
2g.144398389G>TCA348706892ZEB2c.*2647C>A (n.*2647C>A)
c.2021C>A (p.Pro674Gln)
c.2798C>A (p.Pro933Gln)
n.2767C>A
c.2462C>A (p.Pro821Gln)
c.2873C>A (p.Pro958Gln)
c.*2515C>A (n.*2515C>A)
n.2898C>A
c.329C>A (p.Pro110Gln)
c.2795C>A (p.Pro932Gln)
c.655+2810C>A (n.655+2810C>A)
c.1168-461C>A (n.1168-461C>A)
c.2726C>A (p.Pro909Gln)
c.2789C>A (p.Pro930Gln)
c.2777C>A (p.Pro926Gln)
2g.144398390delCA2586970071ZEB2c.*2647del (n.*2647del)
c.2021del (p.Pro674HisfsTer?)
c.2798del (p.Pro933HisfsTer?)
n.2767del
c.2462del (p.Pro821HisfsTer?)
c.2873del (p.Pro958HisfsTer?)
c.*2515del (n.*2515del)
n.2898del
c.329del (p.Pro110HisfsTer?)
c.2795del (p.Pro932HisfsTer?)
c.655+2810del (n.655+2810del)
c.1168-461del (n.1168-461del)
c.2726del (p.Pro909HisfsTer?)
c.2789del (p.Pro930HisfsTer?)
c.2777del (p.Pro926HisfsTer?)
2g.144398390G>ACA348706895ZEB2c.*2646C>T (n.*2646C>T)
c.2020C>T (p.Pro674Ser)
c.2797C>T (p.Pro933Ser)
n.2766C>T
c.2461C>T (p.Pro821Ser)
c.2872C>T (p.Pro958Ser)
c.*2514C>T (n.*2514C>T)
n.2897C>T
c.328C>T (p.Pro110Ser)
c.2794C>T (p.Pro932Ser)
c.655+2809C>T (n.655+2809C>T)
c.1168-462C>T (n.1168-462C>T)
c.2725C>T (p.Pro909Ser)
c.2788C>T (p.Pro930Ser)
c.2776C>T (p.Pro926Ser)
dbSNP gnomAD v3 gnomAD v4
2g.144398390G>CCA348706897ZEB2c.*2646C>G (n.*2646C>G)
c.2020C>G (p.Pro674Ala)
c.2797C>G (p.Pro933Ala)
n.2766C>G
c.2461C>G (p.Pro821Ala)
c.2872C>G (p.Pro958Ala)
c.*2514C>G (n.*2514C>G)
n.2897C>G
c.328C>G (p.Pro110Ala)
c.2794C>G (p.Pro932Ala)
c.655+2809C>G (n.655+2809C>G)
c.1168-462C>G (n.1168-462C>G)
c.2725C>G (p.Pro909Ala)
c.2788C>G (p.Pro930Ala)
c.2776C>G (p.Pro926Ala)
2g.144398390G=CA1294884875ZEB2c.*2646C= (n.*2646C=)
c.2020C= (p.Pro674=)
c.2797C= (p.Pro933=)
n.2766C=
c.2461C= (p.Pro821=)
c.2872C= (p.Pro958=)
c.*2514C= (n.*2514C=)
n.2897C=
c.328C= (p.Pro110=)
c.2794C= (p.Pro932=)
c.655+2809C= (n.655+2809C=)
c.1168-462C= (n.1168-462C=)
c.2725C= (p.Pro909=)
c.2788C= (p.Pro930=)
c.2776C= (p.Pro926=)
2g.144398390G>TCA348706898ZEB2c.*2646C>A (n.*2646C>A)
c.2020C>A (p.Pro674Thr)
c.2797C>A (p.Pro933Thr)
n.2766C>A
c.2461C>A (p.Pro821Thr)
c.2872C>A (p.Pro958Thr)
c.*2514C>A (n.*2514C>A)
n.2897C>A
c.328C>A (p.Pro110Thr)
c.2794C>A (p.Pro932Thr)
c.655+2809C>A (n.655+2809C>A)
c.1168-462C>A (n.1168-462C>A)
c.2725C>A (p.Pro909Thr)
c.2788C>A (p.Pro930Thr)
c.2776C>A (p.Pro926Thr)
2g.144398391T>ACA429445047ZEB2c.*2645A>T (n.*2645A>T)
c.2019A>T (p.Leu673=)
c.2796A>T (p.Leu932=)
n.2765A>T
c.2460A>T (p.Leu820=)
c.2871A>T (p.Leu957=)
c.*2513A>T (n.*2513A>T)
n.2896A>T
c.327A>T (p.Leu109=)
c.2793A>T (p.Leu931=)
c.655+2808A>T (n.655+2808A>T)
c.1168-463A>T (n.1168-463A>T)
c.2724A>T (p.Leu908=)
c.2787A>T (p.Leu929=)
c.2775A>T (p.Leu925=)
gnomAD v4
2g.144398391T>CCA57554721ZEB2c.*2645A>G (n.*2645A>G)
c.2019A>G (p.Leu673=)
c.2796A>G (p.Leu932=)
n.2765A>G
c.2460A>G (p.Leu820=)
c.2871A>G (p.Leu957=)
c.*2513A>G (n.*2513A>G)
n.2896A>G
c.327A>G (p.Leu109=)
c.2793A>G (p.Leu931=)
c.655+2808A>G (n.655+2808A>G)
c.1168-463A>G (n.1168-463A>G)
c.2724A>G (p.Leu908=)
c.2787A>G (p.Leu929=)
c.2775A>G (p.Leu925=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.144398391T>GCA429445048ZEB2c.*2645A>C (n.*2645A>C)
c.2019A>C (p.Leu673=)
c.2796A>C (p.Leu932=)
n.2765A>C
c.2460A>C (p.Leu820=)
c.2871A>C (p.Leu957=)
c.*2513A>C (n.*2513A>C)
n.2896A>C
c.327A>C (p.Leu109=)
c.2793A>C (p.Leu931=)
c.655+2808A>C (n.655+2808A>C)
c.1168-463A>C (n.1168-463A>C)
c.2724A>C (p.Leu908=)
c.2787A>C (p.Leu929=)
c.2775A>C (p.Leu925=)
2g.144398391T=CA1294884876ZEB2c.*2645A= (n.*2645A=)
c.2019A= (p.Leu673=)
c.2796A= (p.Leu932=)
n.2765A=
c.2460A= (p.Leu820=)
c.2871A= (p.Leu957=)
c.*2513A= (n.*2513A=)
n.2896A=
c.327A= (p.Leu109=)
c.2793A= (p.Leu931=)
c.655+2808A= (n.655+2808A=)
c.1168-463A= (n.1168-463A=)
c.2724A= (p.Leu908=)
c.2787A= (p.Leu929=)
c.2775A= (p.Leu925=)
2g.144398392A>CCA348706902ZEB2c.*2644T>G (n.*2644T>G)
c.2018T>G (p.Leu673Arg)
c.2795T>G (p.Leu932Arg)
n.2764T>G
c.2459T>G (p.Leu820Arg)
c.2870T>G (p.Leu957Arg)
c.*2512T>G (n.*2512T>G)
n.2895T>G
c.326T>G (p.Leu109Arg)
c.2792T>G (p.Leu931Arg)
c.655+2807T>G (n.655+2807T>G)
c.1168-464T>G (n.1168-464T>G)
c.2723T>G (p.Leu908Arg)
c.2786T>G (p.Leu929Arg)
c.2774T>G (p.Leu925Arg)
2g.144398392A>GCA348706904ZEB2c.*2644T>C (n.*2644T>C)
c.2018T>C (p.Leu673Pro)
c.2795T>C (p.Leu932Pro)
n.2764T>C
c.2459T>C (p.Leu820Pro)
c.2870T>C (p.Leu957Pro)
c.*2512T>C (n.*2512T>C)
n.2895T>C
c.326T>C (p.Leu109Pro)
c.2792T>C (p.Leu931Pro)
c.655+2807T>C (n.655+2807T>C)
c.1168-464T>C (n.1168-464T>C)
c.2723T>C (p.Leu908Pro)
c.2786T>C (p.Leu929Pro)
c.2774T>C (p.Leu925Pro)
2g.144398392A>TCA348706906ZEB2c.*2644T>A (n.*2644T>A)
c.2018T>A (p.Leu673Gln)
c.2795T>A (p.Leu932Gln)
n.2764T>A
c.2459T>A (p.Leu820Gln)
c.2870T>A (p.Leu957Gln)
c.*2512T>A (n.*2512T>A)
n.2895T>A
c.326T>A (p.Leu109Gln)
c.2792T>A (p.Leu931Gln)
c.655+2807T>A (n.655+2807T>A)
c.1168-464T>A (n.1168-464T>A)
c.2723T>A (p.Leu908Gln)
c.2786T>A (p.Leu929Gln)
c.2774T>A (p.Leu925Gln)
ClinVar dbSNP
2g.144398393G>ACA429445051ZEB2c.*2643C>T (n.*2643C>T)
c.2017C>T (p.Leu673=)
c.2794C>T (p.Leu932=)
n.2763C>T
c.2458C>T (p.Leu820=)
c.2869C>T (p.Leu957=)
c.*2511C>T (n.*2511C>T)
n.2894C>T
c.325C>T (p.Leu109=)
c.2791C>T (p.Leu931=)
c.655+2806C>T (n.655+2806C>T)
c.1168-465C>T (n.1168-465C>T)
c.2722C>T (p.Leu908=)
c.2785C>T (p.Leu929=)
c.2773C>T (p.Leu925=)
2g.144398393G>CCA348706909ZEB2c.*2643C>G (n.*2643C>G)
c.2017C>G (p.Leu673Val)
c.2794C>G (p.Leu932Val)
n.2763C>G
c.2458C>G (p.Leu820Val)
c.2869C>G (p.Leu957Val)
c.*2511C>G (n.*2511C>G)
n.2894C>G
c.325C>G (p.Leu109Val)
c.2791C>G (p.Leu931Val)
c.655+2806C>G (n.655+2806C>G)
c.1168-465C>G (n.1168-465C>G)
c.2722C>G (p.Leu908Val)
c.2785C>G (p.Leu929Val)
c.2773C>G (p.Leu925Val)
2g.144398393G>TCA348706911ZEB2c.*2643C>A (n.*2643C>A)
c.2017C>A (p.Leu673Ile)
c.2794C>A (p.Leu932Ile)
n.2763C>A
c.2458C>A (p.Leu820Ile)
c.2869C>A (p.Leu957Ile)
c.*2511C>A (n.*2511C>A)
n.2894C>A
c.325C>A (p.Leu109Ile)
c.2791C>A (p.Leu931Ile)
c.655+2806C>A (n.655+2806C>A)
c.1168-465C>A (n.1168-465C>A)
c.2722C>A (p.Leu908Ile)
c.2785C>A (p.Leu929Ile)
c.2773C>A (p.Leu925Ile)
2g.144398394G>ACA429445052ZEB2c.*2642C>T (n.*2642C>T)
c.2016C>T (p.Phe672=)
c.2793C>T (p.Phe931=)
n.2762C>T
c.2457C>T (p.Phe819=)
c.2868C>T (p.Phe956=)
c.*2510C>T (n.*2510C>T)
n.2893C>T
c.324C>T (p.Phe108=)
c.2790C>T (p.Phe930=)
c.655+2805C>T (n.655+2805C>T)
c.1168-466C>T (n.1168-466C>T)
c.2721C>T (p.Phe907=)
c.2784C>T (p.Phe928=)
c.2772C>T (p.Phe924=)
ClinVar gnomAD v4
2g.144398394G>CCA348706915ZEB2c.*2642C>G (n.*2642C>G)
c.2016C>G (p.Phe672Leu)
c.2793C>G (p.Phe931Leu)
n.2762C>G
c.2457C>G (p.Phe819Leu)
c.2868C>G (p.Phe956Leu)
c.*2510C>G (n.*2510C>G)
n.2893C>G
c.324C>G (p.Phe108Leu)
c.2790C>G (p.Phe930Leu)
c.655+2805C>G (n.655+2805C>G)
c.1168-466C>G (n.1168-466C>G)
c.2721C>G (p.Phe907Leu)
c.2784C>G (p.Phe928Leu)
c.2772C>G (p.Phe924Leu)
gnomAD v4
2g.144398394G>TCA348706913ZEB2c.*2642C>A (n.*2642C>A)
c.2016C>A (p.Phe672Leu)
c.2793C>A (p.Phe931Leu)
n.2762C>A
c.2457C>A (p.Phe819Leu)
c.2868C>A (p.Phe956Leu)
c.*2510C>A (n.*2510C>A)
n.2893C>A
c.324C>A (p.Phe108Leu)
c.2790C>A (p.Phe930Leu)
c.655+2805C>A (n.655+2805C>A)
c.1168-466C>A (n.1168-466C>A)
c.2721C>A (p.Phe907Leu)
c.2784C>A (p.Phe928Leu)
c.2772C>A (p.Phe924Leu)
2g.144398395A>CCA348706918ZEB2c.*2641T>G (n.*2641T>G)
c.2015T>G (p.Phe672Cys)
c.2792T>G (p.Phe931Cys)
n.2761T>G
c.2456T>G (p.Phe819Cys)
c.2867T>G (p.Phe956Cys)
c.*2509T>G (n.*2509T>G)
n.2892T>G
c.323T>G (p.Phe108Cys)
c.2789T>G (p.Phe930Cys)
c.655+2804T>G (n.655+2804T>G)
c.1168-467T>G (n.1168-467T>G)
c.2720T>G (p.Phe907Cys)
c.2783T>G (p.Phe928Cys)
c.2771T>G (p.Phe924Cys)
ClinVar dbSNP
2g.144398395A>GCA348706920ZEB2c.*2641T>C (n.*2641T>C)
c.2015T>C (p.Phe672Ser)
c.2792T>C (p.Phe931Ser)
n.2761T>C
c.2456T>C (p.Phe819Ser)
c.2867T>C (p.Phe956Ser)
c.*2509T>C (n.*2509T>C)
n.2892T>C
c.323T>C (p.Phe108Ser)
c.2789T>C (p.Phe930Ser)
c.655+2804T>C (n.655+2804T>C)
c.1168-467T>C (n.1168-467T>C)
c.2720T>C (p.Phe907Ser)
c.2783T>C (p.Phe928Ser)
c.2771T>C (p.Phe924Ser)
2g.144398395A>TCA348706922ZEB2c.*2641T>A (n.*2641T>A)
c.2015T>A (p.Phe672Tyr)
c.2792T>A (p.Phe931Tyr)
n.2761T>A
c.2456T>A (p.Phe819Tyr)
c.2867T>A (p.Phe956Tyr)
c.*2509T>A (n.*2509T>A)
n.2892T>A
c.323T>A (p.Phe108Tyr)
c.2789T>A (p.Phe930Tyr)
c.655+2804T>A (n.655+2804T>A)
c.1168-467T>A (n.1168-467T>A)
c.2720T>A (p.Phe907Tyr)
c.2783T>A (p.Phe928Tyr)
c.2771T>A (p.Phe924Tyr)
2g.144398396A>CCA348706925ZEB2c.*2640T>G (n.*2640T>G)
c.2014T>G (p.Phe672Val)
c.2791T>G (p.Phe931Val)
n.2760T>G
c.2455T>G (p.Phe819Val)
c.2866T>G (p.Phe956Val)
c.*2508T>G (n.*2508T>G)
n.2891T>G
c.322T>G (p.Phe108Val)
c.2788T>G (p.Phe930Val)
c.655+2803T>G (n.655+2803T>G)
c.1168-468T>G (n.1168-468T>G)
c.2719T>G (p.Phe907Val)
c.2782T>G (p.Phe928Val)
c.2770T>G (p.Phe924Val)
COSMIC
2g.144398396A>GCA348706927ZEB2c.*2640T>C (n.*2640T>C)
c.2014T>C (p.Phe672Leu)
c.2791T>C (p.Phe931Leu)
n.2760T>C
c.2455T>C (p.Phe819Leu)
c.2866T>C (p.Phe956Leu)
c.*2508T>C (n.*2508T>C)
n.2891T>C
c.322T>C (p.Phe108Leu)
c.2788T>C (p.Phe930Leu)
c.655+2803T>C (n.655+2803T>C)
c.1168-468T>C (n.1168-468T>C)
c.2719T>C (p.Phe907Leu)
c.2782T>C (p.Phe928Leu)
c.2770T>C (p.Phe924Leu)
2g.144398396A>TCA348706929ZEB2c.*2640T>A (n.*2640T>A)
c.2014T>A (p.Phe672Ile)
c.2791T>A (p.Phe931Ile)
n.2760T>A
c.2455T>A (p.Phe819Ile)
c.2866T>A (p.Phe956Ile)
c.*2508T>A (n.*2508T>A)
n.2891T>A
c.322T>A (p.Phe108Ile)
c.2788T>A (p.Phe930Ile)
c.655+2803T>A (n.655+2803T>A)
c.1168-468T>A (n.1168-468T>A)
c.2719T>A (p.Phe907Ile)
c.2782T>A (p.Phe928Ile)
c.2770T>A (p.Phe924Ile)
2g.144398397G>ACA429445055ZEB2c.*2639C>T (n.*2639C>T)
c.2013C>T (p.Ser671=)
c.2790C>T (p.Ser930=)
n.2759C>T
c.2454C>T (p.Ser818=)
c.2865C>T (p.Ser955=)
c.*2507C>T (n.*2507C>T)
n.2890C>T
c.321C>T (p.Ser107=)
c.2787C>T (p.Ser929=)
c.655+2802C>T (n.655+2802C>T)
c.1168-469C>T (n.1168-469C>T)
c.2718C>T (p.Ser906=)
c.2781C>T (p.Ser927=)
c.2769C>T (p.Ser923=)
2g.144398397G>CCA348706934ZEB2c.*2639C>G (n.*2639C>G)
c.2013C>G (p.Ser671Arg)
c.2790C>G (p.Ser930Arg)
n.2759C>G
c.2454C>G (p.Ser818Arg)
c.2865C>G (p.Ser955Arg)
c.*2507C>G (n.*2507C>G)
n.2890C>G
c.321C>G (p.Ser107Arg)
c.2787C>G (p.Ser929Arg)
c.655+2802C>G (n.655+2802C>G)
c.1168-469C>G (n.1168-469C>G)
c.2718C>G (p.Ser906Arg)
c.2781C>G (p.Ser927Arg)
c.2769C>G (p.Ser923Arg)
2g.144398397G>TCA348706932ZEB2c.*2639C>A (n.*2639C>A)
c.2013C>A (p.Ser671Arg)
c.2790C>A (p.Ser930Arg)
n.2759C>A
c.2454C>A (p.Ser818Arg)
c.2865C>A (p.Ser955Arg)
c.*2507C>A (n.*2507C>A)
n.2890C>A
c.321C>A (p.Ser107Arg)
c.2787C>A (p.Ser929Arg)
c.655+2802C>A (n.655+2802C>A)
c.1168-469C>A (n.1168-469C>A)
c.2718C>A (p.Ser906Arg)
c.2781C>A (p.Ser927Arg)
c.2769C>A (p.Ser923Arg)
2g.144398398C>ACA348706937ZEB2c.*2638G>T (n.*2638G>T)
c.2012G>T (p.Ser671Ile)
c.2789G>T (p.Ser930Ile)
n.2758G>T
c.2453G>T (p.Ser818Ile)
c.2864G>T (p.Ser955Ile)
c.*2506G>T (n.*2506G>T)
n.2889G>T
c.320G>T (p.Ser107Ile)
c.2786G>T (p.Ser929Ile)
c.655+2801G>T (n.655+2801G>T)
c.1168-470G>T (n.1168-470G>T)
c.2717G>T (p.Ser906Ile)
c.2780G>T (p.Ser927Ile)
c.2768G>T (p.Ser923Ile)
2g.144398398C>GCA348706938ZEB2c.*2638G>C (n.*2638G>C)
c.2012G>C (p.Ser671Thr)
c.2789G>C (p.Ser930Thr)
n.2758G>C
c.2453G>C (p.Ser818Thr)
c.2864G>C (p.Ser955Thr)
c.*2506G>C (n.*2506G>C)
n.2889G>C
c.320G>C (p.Ser107Thr)
c.2786G>C (p.Ser929Thr)
c.655+2801G>C (n.655+2801G>C)
c.1168-470G>C (n.1168-470G>C)
c.2717G>C (p.Ser906Thr)
c.2780G>C (p.Ser927Thr)
c.2768G>C (p.Ser923Thr)
2g.144398398C>TCA348706940ZEB2c.*2638G>A (n.*2638G>A)
c.2012G>A (p.Ser671Asn)
c.2789G>A (p.Ser930Asn)
n.2758G>A
c.2453G>A (p.Ser818Asn)
c.2864G>A (p.Ser955Asn)
c.*2506G>A (n.*2506G>A)
n.2889G>A
c.320G>A (p.Ser107Asn)
c.2786G>A (p.Ser929Asn)
c.655+2801G>A (n.655+2801G>A)
c.1168-470G>A (n.1168-470G>A)
c.2717G>A (p.Ser906Asn)
c.2780G>A (p.Ser927Asn)
c.2768G>A (p.Ser923Asn)
2g.144398399T>ACA348706943ZEB2c.*2637A>T (n.*2637A>T)
c.2011A>T (p.Ser671Cys)
c.2788A>T (p.Ser930Cys)
n.2757A>T
c.2452A>T (p.Ser818Cys)
c.2863A>T (p.Ser955Cys)
c.*2505A>T (n.*2505A>T)
n.2888A>T
c.319A>T (p.Ser107Cys)
c.2785A>T (p.Ser929Cys)
c.655+2800A>T (n.655+2800A>T)
c.1168-471A>T (n.1168-471A>T)
c.2716A>T (p.Ser906Cys)
c.2779A>T (p.Ser927Cys)
c.2767A>T (p.Ser923Cys)
2g.144398399T>CCA348706945ZEB2c.*2637A>G (n.*2637A>G)
c.2011A>G (p.Ser671Gly)
c.2788A>G (p.Ser930Gly)
n.2757A>G
c.2452A>G (p.Ser818Gly)
c.2863A>G (p.Ser955Gly)
c.*2505A>G (n.*2505A>G)
n.2888A>G
c.319A>G (p.Ser107Gly)
c.2785A>G (p.Ser929Gly)
c.655+2800A>G (n.655+2800A>G)
c.1168-471A>G (n.1168-471A>G)
c.2716A>G (p.Ser906Gly)
c.2779A>G (p.Ser927Gly)
c.2767A>G (p.Ser923Gly)
2g.144398399T>GCA348706947ZEB2c.*2637A>C (n.*2637A>C)
c.2011A>C (p.Ser671Arg)
c.2788A>C (p.Ser930Arg)
n.2757A>C
c.2452A>C (p.Ser818Arg)
c.2863A>C (p.Ser955Arg)
c.*2505A>C (n.*2505A>C)
n.2888A>C
c.319A>C (p.Ser107Arg)
c.2785A>C (p.Ser929Arg)
c.655+2800A>C (n.655+2800A>C)
c.1168-471A>C (n.1168-471A>C)
c.2716A>C (p.Ser906Arg)
c.2779A>C (p.Ser927Arg)
c.2767A>C (p.Ser923Arg)
2g.144398400C>ACA348706949ZEB2c.*2636G>T (n.*2636G>T)
c.2010G>T (p.Met670Ile)
c.2787G>T (p.Met929Ile)
n.2756G>T
c.2451G>T (p.Met817Ile)
c.2862G>T (p.Met954Ile)
c.*2504G>T (n.*2504G>T)
n.2887G>T
c.318G>T (p.Met106Ile)
c.2784G>T (p.Met928Ile)
c.655+2799G>T (n.655+2799G>T)
c.1168-472G>T (n.1168-472G>T)
c.2715G>T (p.Met905Ile)
c.2778G>T (p.Met926Ile)
c.2766G>T (p.Met922Ile)
2g.144398400C>GCA348706953ZEB2c.*2636G>C (n.*2636G>C)
c.2010G>C (p.Met670Ile)
c.2787G>C (p.Met929Ile)
n.2756G>C
c.2451G>C (p.Met817Ile)
c.2862G>C (p.Met954Ile)
c.*2504G>C (n.*2504G>C)
n.2887G>C
c.318G>C (p.Met106Ile)
c.2784G>C (p.Met928Ile)
c.655+2799G>C (n.655+2799G>C)
c.1168-472G>C (n.1168-472G>C)
c.2715G>C (p.Met905Ile)
c.2778G>C (p.Met926Ile)
c.2766G>C (p.Met922Ile)
gnomAD v4
2g.144398400C>TCA348706951ZEB2c.*2636G>A (n.*2636G>A)
c.2010G>A (p.Met670Ile)
c.2787G>A (p.Met929Ile)
n.2756G>A
c.2451G>A (p.Met817Ile)
c.2862G>A (p.Met954Ile)
c.*2504G>A (n.*2504G>A)
n.2887G>A
c.318G>A (p.Met106Ile)
c.2784G>A (p.Met928Ile)
c.655+2799G>A (n.655+2799G>A)
c.1168-472G>A (n.1168-472G>A)
c.2715G>A (p.Met905Ile)
c.2778G>A (p.Met926Ile)
c.2766G>A (p.Met922Ile)
2g.144398401A=CA1294884877ZEB2c.*2635T= (n.*2635T=)
c.2009T= (p.Met670=)
c.2786T= (p.Met929=)
n.2755T=
c.2450T= (p.Met817=)
c.2861T= (p.Met954=)
c.*2503T= (n.*2503T=)
n.2886T=
c.317T= (p.Met106=)
c.2783T= (p.Met928=)
c.655+2798T= (n.655+2798T=)
c.1168-473T= (n.1168-473T=)
c.2714T= (p.Met905=)
c.2777T= (p.Met926=)
c.2765T= (p.Met922=)
2g.144398401A>CCA348706956ZEB2c.*2635T>G (n.*2635T>G)
c.2009T>G (p.Met670Arg)
c.2786T>G (p.Met929Arg)
n.2755T>G
c.2450T>G (p.Met817Arg)
c.2861T>G (p.Met954Arg)
c.*2503T>G (n.*2503T>G)
n.2886T>G
c.317T>G (p.Met106Arg)
c.2783T>G (p.Met928Arg)
c.655+2798T>G (n.655+2798T>G)
c.1168-473T>G (n.1168-473T>G)
c.2714T>G (p.Met905Arg)
c.2777T>G (p.Met926Arg)
c.2765T>G (p.Met922Arg)
gnomAD v4
2g.144398401A>GCA348706957ZEB2c.*2635T>C (n.*2635T>C)
c.2009T>C (p.Met670Thr)
c.2786T>C (p.Met929Thr)
n.2755T>C
c.2450T>C (p.Met817Thr)
c.2861T>C (p.Met954Thr)
c.*2503T>C (n.*2503T>C)
n.2886T>C
c.317T>C (p.Met106Thr)
c.2783T>C (p.Met928Thr)
c.655+2798T>C (n.655+2798T>C)
c.1168-473T>C (n.1168-473T>C)
c.2714T>C (p.Met905Thr)
c.2777T>C (p.Met926Thr)
c.2765T>C (p.Met922Thr)
2g.144398401A>TCA348706959ZEB2c.*2635T>A (n.*2635T>A)
c.2009T>A (p.Met670Lys)
c.2786T>A (p.Met929Lys)
n.2755T>A
c.2450T>A (p.Met817Lys)
c.2861T>A (p.Met954Lys)
c.*2503T>A (n.*2503T>A)
n.2886T>A
c.317T>A (p.Met106Lys)
c.2783T>A (p.Met928Lys)
c.655+2798T>A (n.655+2798T>A)
c.1168-473T>A (n.1168-473T>A)
c.2714T>A (p.Met905Lys)
c.2777T>A (p.Met926Lys)
c.2765T>A (p.Met922Lys)
dbSNP gnomAD v4
2g.144398402T>ACA348706962ZEB2c.*2634A>T (n.*2634A>T)
c.2008A>T (p.Met670Leu)
c.2785A>T (p.Met929Leu)
n.2754A>T
c.2449A>T (p.Met817Leu)
c.2860A>T (p.Met954Leu)
c.*2502A>T (n.*2502A>T)
n.2885A>T
c.316A>T (p.Met106Leu)
c.2782A>T (p.Met928Leu)
c.655+2797A>T (n.655+2797A>T)
c.1168-474A>T (n.1168-474A>T)
c.2713A>T (p.Met905Leu)
c.2776A>T (p.Met926Leu)
c.2764A>T (p.Met922Leu)
2g.144398402T>CCA1898210ZEB2c.*2634A>G (n.*2634A>G)
c.2008A>G (p.Met670Val)
c.2785A>G (p.Met929Val)
n.2754A>G
c.2449A>G (p.Met817Val)
c.2860A>G (p.Met954Val)
c.*2502A>G (n.*2502A>G)
n.2885A>G
c.316A>G (p.Met106Val)
c.2782A>G (p.Met928Val)
c.655+2797A>G (n.655+2797A>G)
c.1168-474A>G (n.1168-474A>G)
c.2713A>G (p.Met905Val)
c.2776A>G (p.Met926Val)
c.2764A>G (p.Met922Val)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.144398402T>GCA348706966ZEB2c.*2634A>C (n.*2634A>C)
c.2008A>C (p.Met670Leu)
c.2785A>C (p.Met929Leu)
n.2754A>C
c.2449A>C (p.Met817Leu)
c.2860A>C (p.Met954Leu)
c.*2502A>C (n.*2502A>C)
n.2885A>C
c.316A>C (p.Met106Leu)
c.2782A>C (p.Met928Leu)
c.655+2797A>C (n.655+2797A>C)
c.1168-474A>C (n.1168-474A>C)
c.2713A>C (p.Met905Leu)
c.2776A>C (p.Met926Leu)
c.2764A>C (p.Met922Leu)
2g.144398402T=CA1294884878ZEB2c.*2634A= (n.*2634A=)
c.2008A= (p.Met670=)
c.2785A= (p.Met929=)
n.2754A=
c.2449A= (p.Met817=)
c.2860A= (p.Met954=)
c.*2502A= (n.*2502A=)
n.2885A=
c.316A= (p.Met106=)
c.2782A= (p.Met928=)
c.655+2797A= (n.655+2797A=)
c.1168-474A= (n.1168-474A=)
c.2713A= (p.Met905=)
c.2776A= (p.Met926=)
c.2764A= (p.Met922=)
2g.144398403C>ACA348706969ZEB2c.*2633G>T (n.*2633G>T)
c.2007G>T (p.Gln669His)
c.2784G>T (p.Gln928His)
n.2753G>T
c.2448G>T (p.Gln816His)
c.2859G>T (p.Gln953His)
c.*2501G>T (n.*2501G>T)
n.2884G>T
c.315G>T (p.Gln105His)
c.2781G>T (p.Gln927His)
c.655+2796G>T (n.655+2796G>T)
c.1168-475G>T (n.1168-475G>T)
c.2712G>T (p.Gln904His)
c.2775G>T (p.Gln925His)
c.2763G>T (p.Gln921His)
2g.144398403C=CA1294884879ZEB2c.*2633G= (n.*2633G=)
c.2007G= (p.Gln669=)
c.2784G= (p.Gln928=)
n.2753G=
c.2448G= (p.Gln816=)
c.2859G= (p.Gln953=)
c.*2501G= (n.*2501G=)
n.2884G=
c.315G= (p.Gln105=)
c.2781G= (p.Gln927=)
c.655+2796G= (n.655+2796G=)
c.1168-475G= (n.1168-475G=)
c.2712G= (p.Gln904=)
c.2775G= (p.Gln925=)
c.2763G= (p.Gln921=)
2g.144398403C>GCA348706971ZEB2c.*2633G>C (n.*2633G>C)
c.2007G>C (p.Gln669His)
c.2784G>C (p.Gln928His)
n.2753G>C
c.2448G>C (p.Gln816His)
c.2859G>C (p.Gln953His)
c.*2501G>C (n.*2501G>C)
n.2884G>C
c.315G>C (p.Gln105His)
c.2781G>C (p.Gln927His)
c.655+2796G>C (n.655+2796G>C)
c.1168-475G>C (n.1168-475G>C)
c.2712G>C (p.Gln904His)
c.2775G>C (p.Gln925His)
c.2763G>C (p.Gln921His)
2g.144398403C>TCA1898211ZEB2c.*2633G>A (n.*2633G>A)
c.2007G>A (p.Gln669=)
c.2784G>A (p.Gln928=)
n.2753G>A
c.2448G>A (p.Gln816=)
c.2859G>A (p.Gln953=)
c.*2501G>A (n.*2501G>A)
n.2884G>A
c.315G>A (p.Gln105=)
c.2781G>A (p.Gln927=)
c.655+2796G>A (n.655+2796G>A)
c.1168-475G>A (n.1168-475G>A)
c.2712G>A (p.Gln904=)
c.2775G>A (p.Gln925=)
c.2763G>A (p.Gln921=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.144398404T>ACA348706975ZEB2c.*2632A>T (n.*2632A>T)
c.2006A>T (p.Gln669Leu)
c.2783A>T (p.Gln928Leu)
n.2752A>T
c.2447A>T (p.Gln816Leu)
c.2858A>T (p.Gln953Leu)
c.*2500A>T (n.*2500A>T)
n.2883A>T
c.314A>T (p.Gln105Leu)
c.2780A>T (p.Gln927Leu)
c.655+2795A>T (n.655+2795A>T)
c.1168-476A>T (n.1168-476A>T)
c.2711A>T (p.Gln904Leu)
c.2774A>T (p.Gln925Leu)
c.2762A>T (p.Gln921Leu)
2g.144398404T>CCA348706976ZEB2c.*2632A>G (n.*2632A>G)
c.2006A>G (p.Gln669Arg)
c.2783A>G (p.Gln928Arg)
n.2752A>G
c.2447A>G (p.Gln816Arg)
c.2858A>G (p.Gln953Arg)
c.*2500A>G (n.*2500A>G)
n.2883A>G
c.314A>G (p.Gln105Arg)
c.2780A>G (p.Gln927Arg)
c.655+2795A>G (n.655+2795A>G)
c.1168-476A>G (n.1168-476A>G)
c.2711A>G (p.Gln904Arg)
c.2774A>G (p.Gln925Arg)
c.2762A>G (p.Gln921Arg)
2g.144398404T>GCA348706978ZEB2c.*2632A>C (n.*2632A>C)
c.2006A>C (p.Gln669Pro)
c.2783A>C (p.Gln928Pro)
n.2752A>C
c.2447A>C (p.Gln816Pro)
c.2858A>C (p.Gln953Pro)
c.*2500A>C (n.*2500A>C)
n.2883A>C
c.314A>C (p.Gln105Pro)
c.2780A>C (p.Gln927Pro)
c.655+2795A>C (n.655+2795A>C)
c.1168-476A>C (n.1168-476A>C)
c.2711A>C (p.Gln904Pro)
c.2774A>C (p.Gln925Pro)
c.2762A>C (p.Gln921Pro)
2g.144398405G>ACA348706985ZEB2c.*2631C>T (n.*2631C>T)
c.2005C>T (p.Gln669Ter)
c.2782C>T (p.Gln928Ter)
n.2751C>T
c.2446C>T (p.Gln816Ter)
c.2857C>T (p.Gln953Ter)
c.*2499C>T (n.*2499C>T)
n.2882C>T
c.313C>T (p.Gln105Ter)
c.2779C>T (p.Gln927Ter)
c.655+2794C>T (n.655+2794C>T)
c.1168-477C>T (n.1168-477C>T)
c.2710C>T (p.Gln904Ter)
c.2773C>T (p.Gln925Ter)
c.2761C>T (p.Gln921Ter)
2g.144398405G>CCA348706983ZEB2c.*2631C>G (n.*2631C>G)
c.2005C>G (p.Gln669Glu)
c.2782C>G (p.Gln928Glu)
n.2751C>G
c.2446C>G (p.Gln816Glu)
c.2857C>G (p.Gln953Glu)
c.*2499C>G (n.*2499C>G)
n.2882C>G
c.313C>G (p.Gln105Glu)
c.2779C>G (p.Gln927Glu)
c.655+2794C>G (n.655+2794C>G)
c.1168-477C>G (n.1168-477C>G)
c.2710C>G (p.Gln904Glu)
c.2773C>G (p.Gln925Glu)
c.2761C>G (p.Gln921Glu)
2g.144398405G>TCA348706981ZEB2c.*2631C>A (n.*2631C>A)
c.2005C>A (p.Gln669Lys)
c.2782C>A (p.Gln928Lys)
n.2751C>A
c.2446C>A (p.Gln816Lys)
c.2857C>A (p.Gln953Lys)
c.*2499C>A (n.*2499C>A)
n.2882C>A
c.313C>A (p.Gln105Lys)
c.2779C>A (p.Gln927Lys)
c.655+2794C>A (n.655+2794C>A)
c.1168-477C>A (n.1168-477C>A)
c.2710C>A (p.Gln904Lys)
c.2773C>A (p.Gln925Lys)
c.2761C>A (p.Gln921Lys)
gnomAD v4
2g.144398406A>CCA348706988ZEB2c.*2630T>G (n.*2630T>G)
c.2004T>G (p.Asp668Glu)
c.2781T>G (p.Asp927Glu)
n.2750T>G
c.2445T>G (p.Asp815Glu)
c.2856T>G (p.Asp952Glu)
c.*2498T>G (n.*2498T>G)
n.2881T>G
c.312T>G (p.Asp104Glu)
c.2778T>G (p.Asp926Glu)
c.655+2793T>G (n.655+2793T>G)
c.1168-478T>G (n.1168-478T>G)
c.2709T>G (p.Asp903Glu)
c.2772T>G (p.Asp924Glu)
c.2760T>G (p.Asp920Glu)
2g.144398406A>GCA429445070ZEB2c.*2630T>C (n.*2630T>C)
c.2004T>C (p.Asp668=)
c.2781T>C (p.Asp927=)
n.2750T>C
c.2445T>C (p.Asp815=)
c.2856T>C (p.Asp952=)
c.*2498T>C (n.*2498T>C)
n.2881T>C
c.312T>C (p.Asp104=)
c.2778T>C (p.Asp926=)
c.655+2793T>C (n.655+2793T>C)
c.1168-478T>C (n.1168-478T>C)
c.2709T>C (p.Asp903=)
c.2772T>C (p.Asp924=)
c.2760T>C (p.Asp920=)
2g.144398406A>TCA348706990ZEB2c.*2630T>A (n.*2630T>A)
c.2004T>A (p.Asp668Glu)
c.2781T>A (p.Asp927Glu)
n.2750T>A
c.2445T>A (p.Asp815Glu)
c.2856T>A (p.Asp952Glu)
c.*2498T>A (n.*2498T>A)
n.2881T>A
c.312T>A (p.Asp104Glu)
c.2778T>A (p.Asp926Glu)
c.655+2793T>A (n.655+2793T>A)
c.1168-478T>A (n.1168-478T>A)
c.2709T>A (p.Asp903Glu)
c.2772T>A (p.Asp924Glu)
c.2760T>A (p.Asp920Glu)
2g.144398407T>ACA348706992ZEB2c.*2629A>T (n.*2629A>T)
c.2003A>T (p.Asp668Val)
c.2780A>T (p.Asp927Val)
n.2749A>T
c.2444A>T (p.Asp815Val)
c.2855A>T (p.Asp952Val)
c.*2497A>T (n.*2497A>T)
n.2880A>T
c.311A>T (p.Asp104Val)
c.2777A>T (p.Asp926Val)
c.655+2792A>T (n.655+2792A>T)
c.1168-479A>T (n.1168-479A>T)
c.2708A>T (p.Asp903Val)
c.2771A>T (p.Asp924Val)
c.2759A>T (p.Asp920Val)
2g.144398407T>CCA348706994ZEB2c.*2629A>G (n.*2629A>G)
c.2003A>G (p.Asp668Gly)
c.2780A>G (p.Asp927Gly)
n.2749A>G
c.2444A>G (p.Asp815Gly)
c.2855A>G (p.Asp952Gly)
c.*2497A>G (n.*2497A>G)
n.2880A>G
c.311A>G (p.Asp104Gly)
c.2777A>G (p.Asp926Gly)
c.655+2792A>G (n.655+2792A>G)
c.1168-479A>G (n.1168-479A>G)
c.2708A>G (p.Asp903Gly)
c.2771A>G (p.Asp924Gly)
c.2759A>G (p.Asp920Gly)
2g.144398407T>GCA348706997ZEB2c.*2629A>C (n.*2629A>C)
c.2003A>C (p.Asp668Ala)
c.2780A>C (p.Asp927Ala)
n.2749A>C
c.2444A>C (p.Asp815Ala)
c.2855A>C (p.Asp952Ala)
c.*2497A>C (n.*2497A>C)
n.2880A>C
c.311A>C (p.Asp104Ala)
c.2777A>C (p.Asp926Ala)
c.655+2792A>C (n.655+2792A>C)
c.1168-479A>C (n.1168-479A>C)
c.2708A>C (p.Asp903Ala)
c.2771A>C (p.Asp924Ala)
c.2759A>C (p.Asp920Ala)
2g.144398408C>ACA348706999ZEB2c.*2628G>T (n.*2628G>T)
c.2002G>T (p.Asp668Tyr)
c.2779G>T (p.Asp927Tyr)
n.2748G>T
c.2443G>T (p.Asp815Tyr)
c.2854G>T (p.Asp952Tyr)
c.*2496G>T (n.*2496G>T)
n.2879G>T
c.310G>T (p.Asp104Tyr)
c.2776G>T (p.Asp926Tyr)
c.655+2791G>T (n.655+2791G>T)
c.1168-480G>T (n.1168-480G>T)
c.2707G>T (p.Asp903Tyr)
c.2770G>T (p.Asp924Tyr)
c.2758G>T (p.Asp920Tyr)
2g.144398408C>GCA348707001ZEB2c.*2628G>C (n.*2628G>C)
c.2002G>C (p.Asp668His)
c.2779G>C (p.Asp927His)
n.2748G>C
c.2443G>C (p.Asp815His)
c.2854G>C (p.Asp952His)
c.*2496G>C (n.*2496G>C)
n.2879G>C
c.310G>C (p.Asp104His)
c.2776G>C (p.Asp926His)
c.655+2791G>C (n.655+2791G>C)
c.1168-480G>C (n.1168-480G>C)
c.2707G>C (p.Asp903His)
c.2770G>C (p.Asp924His)
c.2758G>C (p.Asp920His)
2g.144398408C>TCA348707003ZEB2c.*2628G>A (n.*2628G>A)
c.2002G>A (p.Asp668Asn)
c.2779G>A (p.Asp927Asn)
n.2748G>A
c.2443G>A (p.Asp815Asn)
c.2854G>A (p.Asp952Asn)
c.*2496G>A (n.*2496G>A)
n.2879G>A
c.310G>A (p.Asp104Asn)
c.2776G>A (p.Asp926Asn)
c.655+2791G>A (n.655+2791G>A)
c.1168-480G>A (n.1168-480G>A)
c.2707G>A (p.Asp903Asn)
c.2770G>A (p.Asp924Asn)
c.2758G>A (p.Asp920Asn)
2g.144398409C>ACA429445073ZEB2c.*2627G>T (n.*2627G>T)
c.2001G>T (p.Leu667=)
c.2778G>T (p.Leu926=)
n.2747G>T
c.2442G>T (p.Leu814=)
c.2853G>T (p.Leu951=)
c.*2495G>T (n.*2495G>T)
n.2878G>T
c.309G>T (p.Leu103=)
c.2775G>T (p.Leu925=)
c.655+2790G>T (n.655+2790G>T)
c.1168-481G>T (n.1168-481G>T)
c.2706G>T (p.Leu902=)
c.2769G>T (p.Leu923=)
c.2757G>T (p.Leu919=)
2g.144398409C>GCA429445071ZEB2c.*2627G>C (n.*2627G>C)
c.2001G>C (p.Leu667=)
c.2778G>C (p.Leu926=)
n.2747G>C
c.2442G>C (p.Leu814=)
c.2853G>C (p.Leu951=)
c.*2495G>C (n.*2495G>C)
n.2878G>C
c.309G>C (p.Leu103=)
c.2775G>C (p.Leu925=)
c.655+2790G>C (n.655+2790G>C)
c.1168-481G>C (n.1168-481G>C)
c.2706G>C (p.Leu902=)
c.2769G>C (p.Leu923=)
c.2757G>C (p.Leu919=)
2g.144398409C>TCA429445072ZEB2c.*2627G>A (n.*2627G>A)
c.2001G>A (p.Leu667=)
c.2778G>A (p.Leu926=)
n.2747G>A
c.2442G>A (p.Leu814=)
c.2853G>A (p.Leu951=)
c.*2495G>A (n.*2495G>A)
n.2878G>A
c.309G>A (p.Leu103=)
c.2775G>A (p.Leu925=)
c.655+2790G>A (n.655+2790G>A)
c.1168-481G>A (n.1168-481G>A)
c.2706G>A (p.Leu902=)
c.2769G>A (p.Leu923=)
c.2757G>A (p.Leu919=)
2g.144398410A=CA1294884880ZEB2c.*2626T= (n.*2626T=)
c.2000T= (p.Leu667=)
c.2777T= (p.Leu926=)
n.2746T=
c.2441T= (p.Leu814=)
c.2852T= (p.Leu951=)
c.*2494T= (n.*2494T=)
n.2877T=
c.308T= (p.Leu103=)
c.2774T= (p.Leu925=)
c.655+2789T= (n.655+2789T=)
c.1168-482T= (n.1168-482T=)
c.2705T= (p.Leu902=)
c.2768T= (p.Leu923=)
c.2756T= (p.Leu919=)
2g.144398410A>CCA348707006ZEB2c.*2626T>G (n.*2626T>G)
c.2000T>G (p.Leu667Arg)
c.2777T>G (p.Leu926Arg)
n.2746T>G
c.2441T>G (p.Leu814Arg)
c.2852T>G (p.Leu951Arg)
c.*2494T>G (n.*2494T>G)
n.2877T>G
c.308T>G (p.Leu103Arg)
c.2774T>G (p.Leu925Arg)
c.655+2789T>G (n.655+2789T>G)
c.1168-482T>G (n.1168-482T>G)
c.2705T>G (p.Leu902Arg)
c.2768T>G (p.Leu923Arg)
c.2756T>G (p.Leu919Arg)
2g.144398410A>GCA348707008ZEB2c.*2626T>C (n.*2626T>C)
c.2000T>C (p.Leu667Pro)
c.2777T>C (p.Leu926Pro)
n.2746T>C
c.2441T>C (p.Leu814Pro)
c.2852T>C (p.Leu951Pro)
c.*2494T>C (n.*2494T>C)
n.2877T>C
c.308T>C (p.Leu103Pro)
c.2774T>C (p.Leu925Pro)
c.655+2789T>C (n.655+2789T>C)
c.1168-482T>C (n.1168-482T>C)
c.2705T>C (p.Leu902Pro)
c.2768T>C (p.Leu923Pro)
c.2756T>C (p.Leu919Pro)
dbSNP
2g.144398410A>TCA348707010ZEB2c.*2626T>A (n.*2626T>A)
c.2000T>A (p.Leu667Gln)
c.2777T>A (p.Leu926Gln)
n.2746T>A
c.2441T>A (p.Leu814Gln)
c.2852T>A (p.Leu951Gln)
c.*2494T>A (n.*2494T>A)
n.2877T>A
c.308T>A (p.Leu103Gln)
c.2774T>A (p.Leu925Gln)
c.655+2789T>A (n.655+2789T>A)
c.1168-482T>A (n.1168-482T>A)
c.2705T>A (p.Leu902Gln)
c.2768T>A (p.Leu923Gln)
c.2756T>A (p.Leu919Gln)
2g.144398411G>ACA429445077ZEB2c.*2625C>T (n.*2625C>T)
c.1999C>T (p.Leu667=)
c.2776C>T (p.Leu926=)
n.2745C>T
c.2440C>T (p.Leu814=)
c.2851C>T (p.Leu951=)
c.*2493C>T (n.*2493C>T)
n.2876C>T
c.307C>T (p.Leu103=)
c.2773C>T (p.Leu925=)
c.655+2788C>T (n.655+2788C>T)
c.1168-483C>T (n.1168-483C>T)
c.2704C>T (p.Leu902=)
c.2767C>T (p.Leu923=)
c.2755C>T (p.Leu919=)
COSMIC
2g.144398411G>CCA348707013ZEB2c.*2625C>G (n.*2625C>G)
c.1999C>G (p.Leu667Val)
c.2776C>G (p.Leu926Val)
n.2745C>G
c.2440C>G (p.Leu814Val)
c.2851C>G (p.Leu951Val)
c.*2493C>G (n.*2493C>G)
n.2876C>G
c.307C>G (p.Leu103Val)
c.2773C>G (p.Leu925Val)
c.655+2788C>G (n.655+2788C>G)
c.1168-483C>G (n.1168-483C>G)
c.2704C>G (p.Leu902Val)
c.2767C>G (p.Leu923Val)
c.2755C>G (p.Leu919Val)
2g.144398411G>TCA348707014ZEB2c.*2625C>A (n.*2625C>A)
c.1999C>A (p.Leu667Met)
c.2776C>A (p.Leu926Met)
n.2745C>A
c.2440C>A (p.Leu814Met)
c.2851C>A (p.Leu951Met)
c.*2493C>A (n.*2493C>A)
n.2876C>A
c.307C>A (p.Leu103Met)
c.2773C>A (p.Leu925Met)
c.655+2788C>A (n.655+2788C>A)
c.1168-483C>A (n.1168-483C>A)
c.2704C>A (p.Leu902Met)
c.2767C>A (p.Leu923Met)
c.2755C>A (p.Leu919Met)
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=)

Number of alleles fetched