Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.144398465T>ACA348707218ZEB2c.*2571A>T (n.*2571A>T)
c.1945A>T (p.Thr649Ser)
c.2722A>T (p.Thr908Ser)
n.2691A>T
c.2386A>T (p.Thr796Ser)
c.2797A>T (p.Thr933Ser)
c.*2439A>T (n.*2439A>T)
n.2822A>T
c.253A>T (p.Thr85Ser)
c.2719A>T (p.Thr907Ser)
c.655+2734A>T (n.655+2734A>T)
c.1168-537A>T (n.1168-537A>T)
c.2650A>T (p.Thr884Ser)
c.2713A>T (p.Thr905Ser)
c.2701A>T (p.Thr901Ser)
2g.144398465T>CCA348707219ZEB2c.*2571A>G (n.*2571A>G)
c.1945A>G (p.Thr649Ala)
c.2722A>G (p.Thr908Ala)
n.2691A>G
c.2386A>G (p.Thr796Ala)
c.2797A>G (p.Thr933Ala)
c.*2439A>G (n.*2439A>G)
n.2822A>G
c.253A>G (p.Thr85Ala)
c.2719A>G (p.Thr907Ala)
c.655+2734A>G (n.655+2734A>G)
c.1168-537A>G (n.1168-537A>G)
c.2650A>G (p.Thr884Ala)
c.2713A>G (p.Thr905Ala)
c.2701A>G (p.Thr901Ala)
2g.144398465T>GCA348707221ZEB2c.*2571A>C (n.*2571A>C)
c.1945A>C (p.Thr649Pro)
c.2722A>C (p.Thr908Pro)
n.2691A>C
c.2386A>C (p.Thr796Pro)
c.2797A>C (p.Thr933Pro)
c.*2439A>C (n.*2439A>C)
n.2822A>C
c.253A>C (p.Thr85Pro)
c.2719A>C (p.Thr907Pro)
c.655+2734A>C (n.655+2734A>C)
c.1168-537A>C (n.1168-537A>C)
c.2650A>C (p.Thr884Pro)
c.2713A>C (p.Thr905Pro)
c.2701A>C (p.Thr901Pro)
2g.144398466A>CCA429445231ZEB2c.*2570T>G (n.*2570T>G)
c.1944T>G (p.Ala648=)
c.2721T>G (p.Ala907=)
n.2690T>G
c.2385T>G (p.Ala795=)
c.2796T>G (p.Ala932=)
c.*2438T>G (n.*2438T>G)
n.2821T>G
c.252T>G (p.Ala84=)
c.2718T>G (p.Ala906=)
c.655+2733T>G (n.655+2733T>G)
c.1168-538T>G (n.1168-538T>G)
c.2649T>G (p.Ala883=)
c.2712T>G (p.Ala904=)
c.2700T>G (p.Ala900=)
2g.144398466A>GCA429445232ZEB2c.*2570T>C (n.*2570T>C)
c.1944T>C (p.Ala648=)
c.2721T>C (p.Ala907=)
n.2690T>C
c.2385T>C (p.Ala795=)
c.2796T>C (p.Ala932=)
c.*2438T>C (n.*2438T>C)
n.2821T>C
c.252T>C (p.Ala84=)
c.2718T>C (p.Ala906=)
c.655+2733T>C (n.655+2733T>C)
c.1168-538T>C (n.1168-538T>C)
c.2649T>C (p.Ala883=)
c.2712T>C (p.Ala904=)
c.2700T>C (p.Ala900=)
2g.144398466A>TCA429445233ZEB2c.*2570T>A (n.*2570T>A)
c.1944T>A (p.Ala648=)
c.2721T>A (p.Ala907=)
n.2690T>A
c.2385T>A (p.Ala795=)
c.2796T>A (p.Ala932=)
c.*2438T>A (n.*2438T>A)
n.2821T>A
c.252T>A (p.Ala84=)
c.2718T>A (p.Ala906=)
c.655+2733T>A (n.655+2733T>A)
c.1168-538T>A (n.1168-538T>A)
c.2649T>A (p.Ala883=)
c.2712T>A (p.Ala904=)
c.2700T>A (p.Ala900=)
2g.144398467G>ACA348707224ZEB2c.*2569C>T (n.*2569C>T)
c.1943C>T (p.Ala648Val)
c.2720C>T (p.Ala907Val)
n.2689C>T
c.2384C>T (p.Ala795Val)
c.2795C>T (p.Ala932Val)
c.*2437C>T (n.*2437C>T)
n.2820C>T
c.251C>T (p.Ala84Val)
c.2717C>T (p.Ala906Val)
c.655+2732C>T (n.655+2732C>T)
c.1168-539C>T (n.1168-539C>T)
c.2648C>T (p.Ala883Val)
c.2711C>T (p.Ala904Val)
c.2699C>T (p.Ala900Val)
2g.144398467G>CCA348707226ZEB2c.*2569C>G (n.*2569C>G)
c.1943C>G (p.Ala648Gly)
c.2720C>G (p.Ala907Gly)
n.2689C>G
c.2384C>G (p.Ala795Gly)
c.2795C>G (p.Ala932Gly)
c.*2437C>G (n.*2437C>G)
n.2820C>G
c.251C>G (p.Ala84Gly)
c.2717C>G (p.Ala906Gly)
c.655+2732C>G (n.655+2732C>G)
c.1168-539C>G (n.1168-539C>G)
c.2648C>G (p.Ala883Gly)
c.2711C>G (p.Ala904Gly)
c.2699C>G (p.Ala900Gly)
2g.144398467G>TCA348707228ZEB2c.*2569C>A (n.*2569C>A)
c.1943C>A (p.Ala648Asp)
c.2720C>A (p.Ala907Asp)
n.2689C>A
c.2384C>A (p.Ala795Asp)
c.2795C>A (p.Ala932Asp)
c.*2437C>A (n.*2437C>A)
n.2820C>A
c.251C>A (p.Ala84Asp)
c.2717C>A (p.Ala906Asp)
c.655+2732C>A (n.655+2732C>A)
c.1168-539C>A (n.1168-539C>A)
c.2648C>A (p.Ala883Asp)
c.2711C>A (p.Ala904Asp)
c.2699C>A (p.Ala900Asp)
2g.144398468C>ACA348707231ZEB2c.*2568G>T (n.*2568G>T)
c.1942G>T (p.Ala648Ser)
c.2719G>T (p.Ala907Ser)
n.2688G>T
c.2383G>T (p.Ala795Ser)
c.2794G>T (p.Ala932Ser)
c.*2436G>T (n.*2436G>T)
n.2819G>T
c.250G>T (p.Ala84Ser)
c.2716G>T (p.Ala906Ser)
c.655+2731G>T (n.655+2731G>T)
c.1168-540G>T (n.1168-540G>T)
c.2647G>T (p.Ala883Ser)
c.2710G>T (p.Ala904Ser)
c.2698G>T (p.Ala900Ser)
2g.144398468C=CA1294884904ZEB2c.*2568G= (n.*2568G=)
c.1942G= (p.Ala648=)
c.2719G= (p.Ala907=)
n.2688G=
c.2383G= (p.Ala795=)
c.2794G= (p.Ala932=)
c.*2436G= (n.*2436G=)
n.2819G=
c.250G= (p.Ala84=)
c.2716G= (p.Ala906=)
c.655+2731G= (n.655+2731G=)
c.1168-540G= (n.1168-540G=)
c.2647G= (p.Ala883=)
c.2710G= (p.Ala904=)
c.2698G= (p.Ala900=)
2g.144398468C>GCA348707233ZEB2c.*2568G>C (n.*2568G>C)
c.1942G>C (p.Ala648Pro)
c.2719G>C (p.Ala907Pro)
n.2688G>C
c.2383G>C (p.Ala795Pro)
c.2794G>C (p.Ala932Pro)
c.*2436G>C (n.*2436G>C)
n.2819G>C
c.250G>C (p.Ala84Pro)
c.2716G>C (p.Ala906Pro)
c.655+2731G>C (n.655+2731G>C)
c.1168-540G>C (n.1168-540G>C)
c.2647G>C (p.Ala883Pro)
c.2710G>C (p.Ala904Pro)
c.2698G>C (p.Ala900Pro)
2g.144398468C>TCA348707235ZEB2c.*2568G>A (n.*2568G>A)
c.1942G>A (p.Ala648Thr)
c.2719G>A (p.Ala907Thr)
n.2688G>A
c.2383G>A (p.Ala795Thr)
c.2794G>A (p.Ala932Thr)
c.*2436G>A (n.*2436G>A)
n.2819G>A
c.250G>A (p.Ala84Thr)
c.2716G>A (p.Ala906Thr)
c.655+2731G>A (n.655+2731G>A)
c.1168-540G>A (n.1168-540G>A)
c.2647G>A (p.Ala883Thr)
c.2710G>A (p.Ala904Thr)
c.2698G>A (p.Ala900Thr)
dbSNP gnomAD v2 gnomAD v4
2g.144398469delCA2580063839ZEB2c.*2567del (n.*2567del)
c.1941del (p.Ala648LeufsTer23)
c.2718del (p.Ala907LeufsTer23)
n.2687del
c.2382del (p.Ala795LeufsTer23)
c.2793del (p.Ala932LeufsTer23)
c.*2435del (n.*2435del)
n.2818del
c.249del (p.Ala84LeufsTer23)
c.2715del (p.Ala906LeufsTer23)
c.655+2730del (n.655+2730del)
c.1168-541del (n.1168-541del)
c.2646del (p.Ala883LeufsTer23)
c.2709del (p.Ala904LeufsTer23)
c.2697del (p.Ala900LeufsTer23)
ClinVar
2g.144398469A>CCA429444966ZEB2c.*2567T>G (n.*2567T>G)
c.1941T>G (p.Pro647=)
c.2718T>G (p.Pro906=)
n.2687T>G
c.2382T>G (p.Pro794=)
c.2793T>G (p.Pro931=)
c.*2435T>G (n.*2435T>G)
n.2818T>G
c.249T>G (p.Pro83=)
c.2715T>G (p.Pro905=)
c.655+2730T>G (n.655+2730T>G)
c.1168-541T>G (n.1168-541T>G)
c.2646T>G (p.Pro882=)
c.2709T>G (p.Pro903=)
c.2697T>G (p.Pro899=)
2g.144398469A>GCA429444967ZEB2c.*2567T>C (n.*2567T>C)
c.1941T>C (p.Pro647=)
c.2718T>C (p.Pro906=)
n.2687T>C
c.2382T>C (p.Pro794=)
c.2793T>C (p.Pro931=)
c.*2435T>C (n.*2435T>C)
n.2818T>C
c.249T>C (p.Pro83=)
c.2715T>C (p.Pro905=)
c.655+2730T>C (n.655+2730T>C)
c.1168-541T>C (n.1168-541T>C)
c.2646T>C (p.Pro882=)
c.2709T>C (p.Pro903=)
c.2697T>C (p.Pro899=)
2g.144398469A>TCA429444968ZEB2c.*2567T>A (n.*2567T>A)
c.1941T>A (p.Pro647=)
c.2718T>A (p.Pro906=)
n.2687T>A
c.2382T>A (p.Pro794=)
c.2793T>A (p.Pro931=)
c.*2435T>A (n.*2435T>A)
n.2818T>A
c.249T>A (p.Pro83=)
c.2715T>A (p.Pro905=)
c.655+2730T>A (n.655+2730T>A)
c.1168-541T>A (n.1168-541T>A)
c.2646T>A (p.Pro882=)
c.2709T>A (p.Pro903=)
c.2697T>A (p.Pro899=)
2g.144398470G>ACA348707238ZEB2c.*2566C>T (n.*2566C>T)
c.1940C>T (p.Pro647Leu)
c.2717C>T (p.Pro906Leu)
n.2686C>T
c.2381C>T (p.Pro794Leu)
c.2792C>T (p.Pro931Leu)
c.*2434C>T (n.*2434C>T)
n.2817C>T
c.248C>T (p.Pro83Leu)
c.2714C>T (p.Pro905Leu)
c.655+2729C>T (n.655+2729C>T)
c.1168-542C>T (n.1168-542C>T)
c.2645C>T (p.Pro882Leu)
c.2708C>T (p.Pro903Leu)
c.2696C>T (p.Pro899Leu)
2g.144398470G>CCA348707240ZEB2c.*2566C>G (n.*2566C>G)
c.1940C>G (p.Pro647Arg)
c.2717C>G (p.Pro906Arg)
n.2686C>G
c.2381C>G (p.Pro794Arg)
c.2792C>G (p.Pro931Arg)
c.*2434C>G (n.*2434C>G)
n.2817C>G
c.248C>G (p.Pro83Arg)
c.2714C>G (p.Pro905Arg)
c.655+2729C>G (n.655+2729C>G)
c.1168-542C>G (n.1168-542C>G)
c.2645C>G (p.Pro882Arg)
c.2708C>G (p.Pro903Arg)
c.2696C>G (p.Pro899Arg)
2g.144398470G>TCA348707242ZEB2c.*2566C>A (n.*2566C>A)
c.1940C>A (p.Pro647His)
c.2717C>A (p.Pro906His)
n.2686C>A
c.2381C>A (p.Pro794His)
c.2792C>A (p.Pro931His)
c.*2434C>A (n.*2434C>A)
n.2817C>A
c.248C>A (p.Pro83His)
c.2714C>A (p.Pro905His)
c.655+2729C>A (n.655+2729C>A)
c.1168-542C>A (n.1168-542C>A)
c.2645C>A (p.Pro882His)
c.2708C>A (p.Pro903His)
c.2696C>A (p.Pro899His)
2g.144398474delCA2499214970ZEB2c.*2566del (n.*2566del)
c.1940del (p.Pro647LeufsTer24)
c.2717del (p.Pro906LeufsTer24)
n.2686del
c.2381del (p.Pro794LeufsTer24)
c.2792del (p.Pro931LeufsTer24)
c.*2434del (n.*2434del)
n.2817del
c.248del (p.Pro83LeufsTer24)
c.2714del (p.Pro905LeufsTer24)
c.655+2729del (n.655+2729del)
c.1168-542del (n.1168-542del)
c.2645del (p.Pro882LeufsTer24)
c.2708del (p.Pro903LeufsTer24)
c.2696del (p.Pro899LeufsTer24)
ClinVar dbSNP
2g.144398471G>ACA1898217ZEB2c.*2565C>T (n.*2565C>T)
c.1939C>T (p.Pro647Ser)
c.2716C>T (p.Pro906Ser)
n.2685C>T
c.2380C>T (p.Pro794Ser)
c.2791C>T (p.Pro931Ser)
c.*2433C>T (n.*2433C>T)
n.2816C>T
c.247C>T (p.Pro83Ser)
c.2713C>T (p.Pro905Ser)
c.655+2728C>T (n.655+2728C>T)
c.1168-543C>T (n.1168-543C>T)
c.2644C>T (p.Pro882Ser)
c.2707C>T (p.Pro903Ser)
c.2695C>T (p.Pro899Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.144398471G>CCA348707248ZEB2c.*2565C>G (n.*2565C>G)
c.1939C>G (p.Pro647Ala)
c.2716C>G (p.Pro906Ala)
n.2685C>G
c.2380C>G (p.Pro794Ala)
c.2791C>G (p.Pro931Ala)
c.*2433C>G (n.*2433C>G)
n.2816C>G
c.247C>G (p.Pro83Ala)
c.2713C>G (p.Pro905Ala)
c.655+2728C>G (n.655+2728C>G)
c.1168-543C>G (n.1168-543C>G)
c.2644C>G (p.Pro882Ala)
c.2707C>G (p.Pro903Ala)
c.2695C>G (p.Pro899Ala)
2g.144398471G=CA1294884905ZEB2c.*2565C= (n.*2565C=)
c.1939C= (p.Pro647=)
c.2716C= (p.Pro906=)
n.2685C=
c.2380C= (p.Pro794=)
c.2791C= (p.Pro931=)
c.*2433C= (n.*2433C=)
n.2816C=
c.247C= (p.Pro83=)
c.2713C= (p.Pro905=)
c.655+2728C= (n.655+2728C=)
c.1168-543C= (n.1168-543C=)
c.2644C= (p.Pro882=)
c.2707C= (p.Pro903=)
c.2695C= (p.Pro899=)
2g.144398471G>TCA348707246ZEB2c.*2565C>A (n.*2565C>A)
c.1939C>A (p.Pro647Thr)
c.2716C>A (p.Pro906Thr)
n.2685C>A
c.2380C>A (p.Pro794Thr)
c.2791C>A (p.Pro931Thr)
c.*2433C>A (n.*2433C>A)
n.2816C>A
c.247C>A (p.Pro83Thr)
c.2713C>A (p.Pro905Thr)
c.655+2728C>A (n.655+2728C>A)
c.1168-543C>A (n.1168-543C>A)
c.2644C>A (p.Pro882Thr)
c.2707C>A (p.Pro903Thr)
c.2695C>A (p.Pro899Thr)
2g.144398472G>ACA429444974ZEB2c.*2564C>T (n.*2564C>T)
c.1938C>T (p.Pro646=)
c.2715C>T (p.Pro905=)
n.2684C>T
c.2379C>T (p.Pro793=)
c.2790C>T (p.Pro930=)
c.*2432C>T (n.*2432C>T)
n.2815C>T
c.246C>T (p.Pro82=)
c.2712C>T (p.Pro904=)
c.655+2727C>T (n.655+2727C>T)
c.1168-544C>T (n.1168-544C>T)
c.2643C>T (p.Pro881=)
c.2706C>T (p.Pro902=)
c.2694C>T (p.Pro898=)
2g.144398472G>CCA429444975ZEB2c.*2564C>G (n.*2564C>G)
c.1938C>G (p.Pro646=)
c.2715C>G (p.Pro905=)
n.2684C>G
c.2379C>G (p.Pro793=)
c.2790C>G (p.Pro930=)
c.*2432C>G (n.*2432C>G)
n.2815C>G
c.246C>G (p.Pro82=)
c.2712C>G (p.Pro904=)
c.655+2727C>G (n.655+2727C>G)
c.1168-544C>G (n.1168-544C>G)
c.2643C>G (p.Pro881=)
c.2706C>G (p.Pro902=)
c.2694C>G (p.Pro898=)
2g.144398472G>TCA429444976ZEB2c.*2564C>A (n.*2564C>A)
c.1938C>A (p.Pro646=)
c.2715C>A (p.Pro905=)
n.2684C>A
c.2379C>A (p.Pro793=)
c.2790C>A (p.Pro930=)
c.*2432C>A (n.*2432C>A)
n.2815C>A
c.246C>A (p.Pro82=)
c.2712C>A (p.Pro904=)
c.655+2727C>A (n.655+2727C>A)
c.1168-544C>A (n.1168-544C>A)
c.2643C>A (p.Pro881=)
c.2706C>A (p.Pro902=)
c.2694C>A (p.Pro898=)
2g.144398473G>ACA348707250ZEB2c.*2563C>T (n.*2563C>T)
c.1937C>T (p.Pro646Leu)
c.2714C>T (p.Pro905Leu)
n.2683C>T
c.2378C>T (p.Pro793Leu)
c.2789C>T (p.Pro930Leu)
c.*2431C>T (n.*2431C>T)
n.2814C>T
c.245C>T (p.Pro82Leu)
c.2711C>T (p.Pro904Leu)
c.655+2726C>T (n.655+2726C>T)
c.1168-545C>T (n.1168-545C>T)
c.2642C>T (p.Pro881Leu)
c.2705C>T (p.Pro902Leu)
c.2693C>T (p.Pro898Leu)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.144398473G>CCA348707254ZEB2c.*2563C>G (n.*2563C>G)
c.1937C>G (p.Pro646Arg)
c.2714C>G (p.Pro905Arg)
n.2683C>G
c.2378C>G (p.Pro793Arg)
c.2789C>G (p.Pro930Arg)
c.*2431C>G (n.*2431C>G)
n.2814C>G
c.245C>G (p.Pro82Arg)
c.2711C>G (p.Pro904Arg)
c.655+2726C>G (n.655+2726C>G)
c.1168-545C>G (n.1168-545C>G)
c.2642C>G (p.Pro881Arg)
c.2705C>G (p.Pro902Arg)
c.2693C>G (p.Pro898Arg)
2g.144398473G=CA1294884906ZEB2c.*2563C= (n.*2563C=)
c.1937C= (p.Pro646=)
c.2714C= (p.Pro905=)
n.2683C=
c.2378C= (p.Pro793=)
c.2789C= (p.Pro930=)
c.*2431C= (n.*2431C=)
n.2814C=
c.245C= (p.Pro82=)
c.2711C= (p.Pro904=)
c.655+2726C= (n.655+2726C=)
c.1168-545C= (n.1168-545C=)
c.2642C= (p.Pro881=)
c.2705C= (p.Pro902=)
c.2693C= (p.Pro898=)
2g.144398473G>TCA348707252ZEB2c.*2563C>A (n.*2563C>A)
c.1937C>A (p.Pro646His)
c.2714C>A (p.Pro905His)
n.2683C>A
c.2378C>A (p.Pro793His)
c.2789C>A (p.Pro930His)
c.*2431C>A (n.*2431C>A)
n.2814C>A
c.245C>A (p.Pro82His)
c.2711C>A (p.Pro904His)
c.655+2726C>A (n.655+2726C>A)
c.1168-545C>A (n.1168-545C>A)
c.2642C>A (p.Pro881His)
c.2705C>A (p.Pro902His)
c.2693C>A (p.Pro898His)
2g.144398474G>ACA1898218ZEB2c.*2562C>T (n.*2562C>T)
c.1936C>T (p.Pro646Ser)
c.2713C>T (p.Pro905Ser)
n.2682C>T
c.2377C>T (p.Pro793Ser)
c.2788C>T (p.Pro930Ser)
c.*2430C>T (n.*2430C>T)
n.2813C>T
c.244C>T (p.Pro82Ser)
c.2710C>T (p.Pro904Ser)
c.655+2725C>T (n.655+2725C>T)
c.1168-546C>T (n.1168-546C>T)
c.2641C>T (p.Pro881Ser)
c.2704C>T (p.Pro902Ser)
c.2692C>T (p.Pro898Ser)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.144398474G>CCA348707258ZEB2c.*2562C>G (n.*2562C>G)
c.1936C>G (p.Pro646Ala)
c.2713C>G (p.Pro905Ala)
n.2682C>G
c.2377C>G (p.Pro793Ala)
c.2788C>G (p.Pro930Ala)
c.*2430C>G (n.*2430C>G)
n.2813C>G
c.244C>G (p.Pro82Ala)
c.2710C>G (p.Pro904Ala)
c.655+2725C>G (n.655+2725C>G)
c.1168-546C>G (n.1168-546C>G)
c.2641C>G (p.Pro881Ala)
c.2704C>G (p.Pro902Ala)
c.2692C>G (p.Pro898Ala)
dbSNP
2g.144398474G=CA1294884907ZEB2c.*2562C= (n.*2562C=)
c.1936C= (p.Pro646=)
c.2713C= (p.Pro905=)
n.2682C=
c.2377C= (p.Pro793=)
c.2788C= (p.Pro930=)
c.*2430C= (n.*2430C=)
n.2813C=
c.244C= (p.Pro82=)
c.2710C= (p.Pro904=)
c.655+2725C= (n.655+2725C=)
c.1168-546C= (n.1168-546C=)
c.2641C= (p.Pro881=)
c.2704C= (p.Pro902=)
c.2692C= (p.Pro898=)
2g.144398474G>TCA348707260ZEB2c.*2562C>A (n.*2562C>A)
c.1936C>A (p.Pro646Thr)
c.2713C>A (p.Pro905Thr)
n.2682C>A
c.2377C>A (p.Pro793Thr)
c.2788C>A (p.Pro930Thr)
c.*2430C>A (n.*2430C>A)
n.2813C>A
c.244C>A (p.Pro82Thr)
c.2710C>A (p.Pro904Thr)
c.655+2725C>A (n.655+2725C>A)
c.1168-546C>A (n.1168-546C>A)
c.2641C>A (p.Pro881Thr)
c.2704C>A (p.Pro902Thr)
c.2692C>A (p.Pro898Thr)
2g.144398475A=CA1294884908ZEB2c.*2561T= (n.*2561T=)
c.1935T= (p.Phe645=)
c.2712T= (p.Phe904=)
n.2681T=
c.2376T= (p.Phe792=)
c.2787T= (p.Phe929=)
c.*2429T= (n.*2429T=)
n.2812T=
c.243T= (p.Phe81=)
c.2709T= (p.Phe903=)
c.655+2724T= (n.655+2724T=)
c.1168-547T= (n.1168-547T=)
c.2640T= (p.Phe880=)
c.2703T= (p.Phe901=)
c.2691T= (p.Phe897=)
2g.144398475A>CCA348707263ZEB2c.*2561T>G (n.*2561T>G)
c.1935T>G (p.Phe645Leu)
c.2712T>G (p.Phe904Leu)
n.2681T>G
c.2376T>G (p.Phe792Leu)
c.2787T>G (p.Phe929Leu)
c.*2429T>G (n.*2429T>G)
n.2812T>G
c.243T>G (p.Phe81Leu)
c.2709T>G (p.Phe903Leu)
c.655+2724T>G (n.655+2724T>G)
c.1168-547T>G (n.1168-547T>G)
c.2640T>G (p.Phe880Leu)
c.2703T>G (p.Phe901Leu)
c.2691T>G (p.Phe897Leu)
2g.144398475A>GCA429444978ZEB2c.*2561T>C (n.*2561T>C)
c.1935T>C (p.Phe645=)
c.2712T>C (p.Phe904=)
n.2681T>C
c.2376T>C (p.Phe792=)
c.2787T>C (p.Phe929=)
c.*2429T>C (n.*2429T>C)
n.2812T>C
c.243T>C (p.Phe81=)
c.2709T>C (p.Phe903=)
c.655+2724T>C (n.655+2724T>C)
c.1168-547T>C (n.1168-547T>C)
c.2640T>C (p.Phe880=)
c.2703T>C (p.Phe901=)
c.2691T>C (p.Phe897=)
dbSNP gnomAD v3 gnomAD v4
2g.144398475A>TCA348707264ZEB2c.*2561T>A (n.*2561T>A)
c.1935T>A (p.Phe645Leu)
c.2712T>A (p.Phe904Leu)
n.2681T>A
c.2376T>A (p.Phe792Leu)
c.2787T>A (p.Phe929Leu)
c.*2429T>A (n.*2429T>A)
n.2812T>A
c.243T>A (p.Phe81Leu)
c.2709T>A (p.Phe903Leu)
c.655+2724T>A (n.655+2724T>A)
c.1168-547T>A (n.1168-547T>A)
c.2640T>A (p.Phe880Leu)
c.2703T>A (p.Phe901Leu)
c.2691T>A (p.Phe897Leu)
2g.144398477delCA2586970074ZEB2c.*2561del (n.*2561del)
c.1935del (p.Pro647LeufsTer24)
c.2712del (p.Pro906LeufsTer24)
n.2681del
c.2376del (p.Pro794LeufsTer24)
c.2787del (p.Pro931LeufsTer24)
c.*2429del (n.*2429del)
n.2812del
c.243del (p.Pro83LeufsTer24)
c.2709del (p.Pro905LeufsTer24)
c.655+2724del (n.655+2724del)
c.1168-547del (n.1168-547del)
c.2640del (p.Pro882LeufsTer24)
c.2703del (p.Pro903LeufsTer24)
c.2691del (p.Pro899LeufsTer24)
2g.144398476A>CCA348707269ZEB2c.*2560T>G (n.*2560T>G)
c.1934T>G (p.Phe645Cys)
c.2711T>G (p.Phe904Cys)
n.2680T>G
c.2375T>G (p.Phe792Cys)
c.2786T>G (p.Phe929Cys)
c.*2428T>G (n.*2428T>G)
n.2811T>G
c.242T>G (p.Phe81Cys)
c.2708T>G (p.Phe903Cys)
c.655+2723T>G (n.655+2723T>G)
c.1168-548T>G (n.1168-548T>G)
c.2639T>G (p.Phe880Cys)
c.2702T>G (p.Phe901Cys)
c.2690T>G (p.Phe897Cys)
2g.144398476A>GCA348707267ZEB2c.*2560T>C (n.*2560T>C)
c.1934T>C (p.Phe645Ser)
c.2711T>C (p.Phe904Ser)
n.2680T>C
c.2375T>C (p.Phe792Ser)
c.2786T>C (p.Phe929Ser)
c.*2428T>C (n.*2428T>C)
n.2811T>C
c.242T>C (p.Phe81Ser)
c.2708T>C (p.Phe903Ser)
c.655+2723T>C (n.655+2723T>C)
c.1168-548T>C (n.1168-548T>C)
c.2639T>C (p.Phe880Ser)
c.2702T>C (p.Phe901Ser)
c.2690T>C (p.Phe897Ser)
2g.144398476A>TCA348707265ZEB2c.*2560T>A (n.*2560T>A)
c.1934T>A (p.Phe645Tyr)
c.2711T>A (p.Phe904Tyr)
n.2680T>A
c.2375T>A (p.Phe792Tyr)
c.2786T>A (p.Phe929Tyr)
c.*2428T>A (n.*2428T>A)
n.2811T>A
c.242T>A (p.Phe81Tyr)
c.2708T>A (p.Phe903Tyr)
c.655+2723T>A (n.655+2723T>A)
c.1168-548T>A (n.1168-548T>A)
c.2639T>A (p.Phe880Tyr)
c.2702T>A (p.Phe901Tyr)
c.2690T>A (p.Phe897Tyr)
2g.144398476_144398477insCACA2517145042ZEB2c.*2560_*2561insGT (n.*2560_*2561insGT)
c.1934_1935insGT (p.Phe645LeufsTer27)
c.2711_2712insGT (p.Phe904LeufsTer27)
n.2680_2681insGT
c.2375_2376insGT (p.Phe792LeufsTer27)
c.2786_2787insGT (p.Phe929LeufsTer27)
c.*2428_*2429insGT (n.*2428_*2429insGT)
n.2811_2812insGT
c.242_243insGT (p.Phe81LeufsTer27)
c.2708_2709insGT (p.Phe903LeufsTer27)
c.655+2723_655+2724insGT (n.655+2723_655+2724insGT)
c.1168-548_1168-547insGT (n.1168-548_1168-547insGT)
c.2639_2640insGT (p.Phe880LeufsTer27)
c.2702_2703insGT (p.Phe901LeufsTer27)
c.2690_2691insGT (p.Phe897LeufsTer27)
2g.144398477A=CA1294884909ZEB2c.*2559T= (n.*2559T=)
c.1933T= (p.Phe645=)
c.2710T= (p.Phe904=)
n.2679T=
c.2374T= (p.Phe792=)
c.2785T= (p.Phe929=)
c.*2427T= (n.*2427T=)
n.2810T=
c.241T= (p.Phe81=)
c.2707T= (p.Phe903=)
c.655+2722T= (n.655+2722T=)
c.1168-549T= (n.1168-549T=)
c.2638T= (p.Phe880=)
c.2701T= (p.Phe901=)
c.2689T= (p.Phe897=)
2g.144398477A>CCA348707272ZEB2c.*2559T>G (n.*2559T>G)
c.1933T>G (p.Phe645Val)
c.2710T>G (p.Phe904Val)
n.2679T>G
c.2374T>G (p.Phe792Val)
c.2785T>G (p.Phe929Val)
c.*2427T>G (n.*2427T>G)
n.2810T>G
c.241T>G (p.Phe81Val)
c.2707T>G (p.Phe903Val)
c.655+2722T>G (n.655+2722T>G)
c.1168-549T>G (n.1168-549T>G)
c.2638T>G (p.Phe880Val)
c.2701T>G (p.Phe901Val)
c.2689T>G (p.Phe897Val)
2g.144398477A>GCA348707274ZEB2c.*2559T>C (n.*2559T>C)
c.1933T>C (p.Phe645Leu)
c.2710T>C (p.Phe904Leu)
n.2679T>C
c.2374T>C (p.Phe792Leu)
c.2785T>C (p.Phe929Leu)
c.*2427T>C (n.*2427T>C)
n.2810T>C
c.241T>C (p.Phe81Leu)
c.2707T>C (p.Phe903Leu)
c.655+2722T>C (n.655+2722T>C)
c.1168-549T>C (n.1168-549T>C)
c.2638T>C (p.Phe880Leu)
c.2701T>C (p.Phe901Leu)
c.2689T>C (p.Phe897Leu)
2g.144398477A>TCA348707276ZEB2c.*2559T>A (n.*2559T>A)
c.1933T>A (p.Phe645Ile)
c.2710T>A (p.Phe904Ile)
n.2679T>A
c.2374T>A (p.Phe792Ile)
c.2785T>A (p.Phe929Ile)
c.*2427T>A (n.*2427T>A)
n.2810T>A
c.241T>A (p.Phe81Ile)
c.2707T>A (p.Phe903Ile)
c.655+2722T>A (n.655+2722T>A)
c.1168-549T>A (n.1168-549T>A)
c.2638T>A (p.Phe880Ile)
c.2701T>A (p.Phe901Ile)
c.2689T>A (p.Phe897Ile)
2g.144398477_144398478insCAAGGATTCA1294884910ZEB2c.*2558_*2559insAATCCTTG (n.*2558_*2559insAATCCTTG)
c.1932_1933insAATCCTTG (p.Phe645AsnfsTer29)
c.2709_2710insAATCCTTG (p.Phe904AsnfsTer29)
n.2678_2679insAATCCTTG
c.2373_2374insAATCCTTG (p.Phe792AsnfsTer29)
c.2784_2785insAATCCTTG (p.Phe929AsnfsTer29)
c.*2426_*2427insAATCCTTG (n.*2426_*2427insAATCCTTG)
n.2809_2810insAATCCTTG
c.240_241insAATCCTTG (p.Phe81AsnfsTer29)
c.2706_2707insAATCCTTG (p.Phe903AsnfsTer29)
c.655+2721_655+2722insAATCCTTG (n.655+2721_655+2722insAATCCTTG)
c.1168-550_1168-549insAATCCTTG (n.1168-550_1168-549insAATCCTTG)
c.2637_2638insAATCCTTG (p.Phe880AsnfsTer29)
c.2700_2701insAATCCTTG (p.Phe901AsnfsTer29)
c.2688_2689insAATCCTTG (p.Phe897AsnfsTer29)
dbSNP
2g.144398478T>ACA429444981ZEB2c.*2558A>T (n.*2558A>T)
c.1932A>T (p.Ala644=)
c.2709A>T (p.Ala903=)
n.2678A>T
c.2373A>T (p.Ala791=)
c.2784A>T (p.Ala928=)
c.*2426A>T (n.*2426A>T)
n.2809A>T
c.240A>T (p.Ala80=)
c.2706A>T (p.Ala902=)
c.655+2721A>T (n.655+2721A>T)
c.1168-550A>T (n.1168-550A>T)
c.2637A>T (p.Ala879=)
c.2700A>T (p.Ala900=)
c.2688A>T (p.Ala896=)
2g.144398478T>CCA429444983ZEB2c.*2558A>G (n.*2558A>G)
c.1932A>G (p.Ala644=)
c.2709A>G (p.Ala903=)
n.2678A>G
c.2373A>G (p.Ala791=)
c.2784A>G (p.Ala928=)
c.*2426A>G (n.*2426A>G)
n.2809A>G
c.240A>G (p.Ala80=)
c.2706A>G (p.Ala902=)
c.655+2721A>G (n.655+2721A>G)
c.1168-550A>G (n.1168-550A>G)
c.2637A>G (p.Ala879=)
c.2700A>G (p.Ala900=)
c.2688A>G (p.Ala896=)
gnomAD v4
2g.144398478T>GCA429444982ZEB2c.*2558A>C (n.*2558A>C)
c.1932A>C (p.Ala644=)
c.2709A>C (p.Ala903=)
n.2678A>C
c.2373A>C (p.Ala791=)
c.2784A>C (p.Ala928=)
c.*2426A>C (n.*2426A>C)
n.2809A>C
c.240A>C (p.Ala80=)
c.2706A>C (p.Ala902=)
c.655+2721A>C (n.655+2721A>C)
c.1168-550A>C (n.1168-550A>C)
c.2637A>C (p.Ala879=)
c.2700A>C (p.Ala900=)
c.2688A>C (p.Ala896=)
2g.144398479G>ACA57554776ZEB2c.*2557C>T (n.*2557C>T)
c.1931C>T (p.Ala644Val)
c.2708C>T (p.Ala903Val)
n.2677C>T
c.2372C>T (p.Ala791Val)
c.2783C>T (p.Ala928Val)
c.*2425C>T (n.*2425C>T)
n.2808C>T
c.239C>T (p.Ala80Val)
c.2705C>T (p.Ala902Val)
c.655+2720C>T (n.655+2720C>T)
c.1168-551C>T (n.1168-551C>T)
c.2636C>T (p.Ala879Val)
c.2699C>T (p.Ala900Val)
c.2687C>T (p.Ala896Val)
dbSNP
2g.144398479G>CCA348707281ZEB2c.*2557C>G (n.*2557C>G)
c.1931C>G (p.Ala644Gly)
c.2708C>G (p.Ala903Gly)
n.2677C>G
c.2372C>G (p.Ala791Gly)
c.2783C>G (p.Ala928Gly)
c.*2425C>G (n.*2425C>G)
n.2808C>G
c.239C>G (p.Ala80Gly)
c.2705C>G (p.Ala902Gly)
c.655+2720C>G (n.655+2720C>G)
c.1168-551C>G (n.1168-551C>G)
c.2636C>G (p.Ala879Gly)
c.2699C>G (p.Ala900Gly)
c.2687C>G (p.Ala896Gly)
2g.144398479G=CA1294884911ZEB2c.*2557C= (n.*2557C=)
c.1931C= (p.Ala644=)
c.2708C= (p.Ala903=)
n.2677C=
c.2372C= (p.Ala791=)
c.2783C= (p.Ala928=)
c.*2425C= (n.*2425C=)
n.2808C=
c.239C= (p.Ala80=)
c.2705C= (p.Ala902=)
c.655+2720C= (n.655+2720C=)
c.1168-551C= (n.1168-551C=)
c.2636C= (p.Ala879=)
c.2699C= (p.Ala900=)
c.2687C= (p.Ala896=)
2g.144398479G>TCA348707283ZEB2c.*2557C>A (n.*2557C>A)
c.1931C>A (p.Ala644Glu)
c.2708C>A (p.Ala903Glu)
n.2677C>A
c.2372C>A (p.Ala791Glu)
c.2783C>A (p.Ala928Glu)
c.*2425C>A (n.*2425C>A)
n.2808C>A
c.239C>A (p.Ala80Glu)
c.2705C>A (p.Ala902Glu)
c.655+2720C>A (n.655+2720C>A)
c.1168-551C>A (n.1168-551C>A)
c.2636C>A (p.Ala879Glu)
c.2699C>A (p.Ala900Glu)
c.2687C>A (p.Ala896Glu)
2g.144398480C>ACA297613ZEB2c.*2556G>T (n.*2556G>T)
c.1930G>T (p.Ala644Ser)
c.2707G>T (p.Ala903Ser)
n.2676G>T
c.2371G>T (p.Ala791Ser)
c.2782G>T (p.Ala928Ser)
c.*2424G>T (n.*2424G>T)
n.2807G>T
c.238G>T (p.Ala80Ser)
c.2704G>T (p.Ala902Ser)
c.655+2719G>T (n.655+2719G>T)
c.1168-552G>T (n.1168-552G>T)
c.2635G>T (p.Ala879Ser)
c.2698G>T (p.Ala900Ser)
c.2686G>T (p.Ala896Ser)
ClinVar dbSNP gnomAD v4
2g.144398480C=CA1294884912ZEB2c.*2556G= (n.*2556G=)
c.1930G= (p.Ala644=)
c.2707G= (p.Ala903=)
n.2676G=
c.2371G= (p.Ala791=)
c.2782G= (p.Ala928=)
c.*2424G= (n.*2424G=)
n.2807G=
c.238G= (p.Ala80=)
c.2704G= (p.Ala902=)
c.655+2719G= (n.655+2719G=)
c.1168-552G= (n.1168-552G=)
c.2635G= (p.Ala879=)
c.2698G= (p.Ala900=)
c.2686G= (p.Ala896=)
2g.144398480C>GCA348707290ZEB2c.*2556G>C (n.*2556G>C)
c.1930G>C (p.Ala644Pro)
c.2707G>C (p.Ala903Pro)
n.2676G>C
c.2371G>C (p.Ala791Pro)
c.2782G>C (p.Ala928Pro)
c.*2424G>C (n.*2424G>C)
n.2807G>C
c.238G>C (p.Ala80Pro)
c.2704G>C (p.Ala902Pro)
c.655+2719G>C (n.655+2719G>C)
c.1168-552G>C (n.1168-552G>C)
c.2635G>C (p.Ala879Pro)
c.2698G>C (p.Ala900Pro)
c.2686G>C (p.Ala896Pro)
2g.144398480C>TCA348707288ZEB2c.*2556G>A (n.*2556G>A)
c.1930G>A (p.Ala644Thr)
c.2707G>A (p.Ala903Thr)
n.2676G>A
c.2371G>A (p.Ala791Thr)
c.2782G>A (p.Ala928Thr)
c.*2424G>A (n.*2424G>A)
n.2807G>A
c.238G>A (p.Ala80Thr)
c.2704G>A (p.Ala902Thr)
c.655+2719G>A (n.655+2719G>A)
c.1168-552G>A (n.1168-552G>A)
c.2635G>A (p.Ala879Thr)
c.2698G>A (p.Ala900Thr)
c.2686G>A (p.Ala896Thr)
ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
2g.144398481G>ACA1898219ZEB2c.*2555C>T (n.*2555C>T)
c.1929C>T (p.Ser643=)
c.2706C>T (p.Ser902=)
n.2675C>T
c.2370C>T (p.Ser790=)
c.2781C>T (p.Ser927=)
c.*2423C>T (n.*2423C>T)
n.2806C>T
c.237C>T (p.Ser79=)
c.2703C>T (p.Ser901=)
c.655+2718C>T (n.655+2718C>T)
c.1168-553C>T (n.1168-553C>T)
c.2634C>T (p.Ser878=)
c.2697C>T (p.Ser899=)
c.2685C>T (p.Ser895=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.144398481G>CCA348707295ZEB2c.*2555C>G (n.*2555C>G)
c.1929C>G (p.Ser643Arg)
c.2706C>G (p.Ser902Arg)
n.2675C>G
c.2370C>G (p.Ser790Arg)
c.2781C>G (p.Ser927Arg)
c.*2423C>G (n.*2423C>G)
n.2806C>G
c.237C>G (p.Ser79Arg)
c.2703C>G (p.Ser901Arg)
c.655+2718C>G (n.655+2718C>G)
c.1168-553C>G (n.1168-553C>G)
c.2634C>G (p.Ser878Arg)
c.2697C>G (p.Ser899Arg)
c.2685C>G (p.Ser895Arg)
2g.144398481G=CA1294884913ZEB2c.*2555C= (n.*2555C=)
c.1929C= (p.Ser643=)
c.2706C= (p.Ser902=)
n.2675C=
c.2370C= (p.Ser790=)
c.2781C= (p.Ser927=)
c.*2423C= (n.*2423C=)
n.2806C=
c.237C= (p.Ser79=)
c.2703C= (p.Ser901=)
c.655+2718C= (n.655+2718C=)
c.1168-553C= (n.1168-553C=)
c.2634C= (p.Ser878=)
c.2697C= (p.Ser899=)
c.2685C= (p.Ser895=)
2g.144398481G>TCA348707297ZEB2c.*2555C>A (n.*2555C>A)
c.1929C>A (p.Ser643Arg)
c.2706C>A (p.Ser902Arg)
n.2675C>A
c.2370C>A (p.Ser790Arg)
c.2781C>A (p.Ser927Arg)
c.*2423C>A (n.*2423C>A)
n.2806C>A
c.237C>A (p.Ser79Arg)
c.2703C>A (p.Ser901Arg)
c.655+2718C>A (n.655+2718C>A)
c.1168-553C>A (n.1168-553C>A)
c.2634C>A (p.Ser878Arg)
c.2697C>A (p.Ser899Arg)
c.2685C>A (p.Ser895Arg)
2g.144398482C>ACA348707301ZEB2c.*2554G>T (n.*2554G>T)
c.1928G>T (p.Ser643Ile)
c.2705G>T (p.Ser902Ile)
n.2674G>T
c.2369G>T (p.Ser790Ile)
c.2780G>T (p.Ser927Ile)
c.*2422G>T (n.*2422G>T)
n.2805G>T
c.236G>T (p.Ser79Ile)
c.2702G>T (p.Ser901Ile)
c.655+2717G>T (n.655+2717G>T)
c.1168-554G>T (n.1168-554G>T)
c.2633G>T (p.Ser878Ile)
c.2696G>T (p.Ser899Ile)
c.2684G>T (p.Ser895Ile)
2g.144398482C>GCA348707303ZEB2c.*2554G>C (n.*2554G>C)
c.1928G>C (p.Ser643Thr)
c.2705G>C (p.Ser902Thr)
n.2674G>C
c.2369G>C (p.Ser790Thr)
c.2780G>C (p.Ser927Thr)
c.*2422G>C (n.*2422G>C)
n.2805G>C
c.236G>C (p.Ser79Thr)
c.2702G>C (p.Ser901Thr)
c.655+2717G>C (n.655+2717G>C)
c.1168-554G>C (n.1168-554G>C)
c.2633G>C (p.Ser878Thr)
c.2696G>C (p.Ser899Thr)
c.2684G>C (p.Ser895Thr)
2g.144398482C>TCA348707305ZEB2c.*2554G>A (n.*2554G>A)
c.1928G>A (p.Ser643Asn)
c.2705G>A (p.Ser902Asn)
n.2674G>A
c.2369G>A (p.Ser790Asn)
c.2780G>A (p.Ser927Asn)
c.*2422G>A (n.*2422G>A)
n.2805G>A
c.236G>A (p.Ser79Asn)
c.2702G>A (p.Ser901Asn)
c.655+2717G>A (n.655+2717G>A)
c.1168-554G>A (n.1168-554G>A)
c.2633G>A (p.Ser878Asn)
c.2696G>A (p.Ser899Asn)
c.2684G>A (p.Ser895Asn)
COSMIC
2g.144398483T>ACA348707308ZEB2c.*2553A>T (n.*2553A>T)
c.1927A>T (p.Ser643Cys)
c.2704A>T (p.Ser902Cys)
n.2673A>T
c.2368A>T (p.Ser790Cys)
c.2779A>T (p.Ser927Cys)
c.*2421A>T (n.*2421A>T)
n.2804A>T
c.235A>T (p.Ser79Cys)
c.2701A>T (p.Ser901Cys)
c.655+2716A>T (n.655+2716A>T)
c.1168-555A>T (n.1168-555A>T)
c.2632A>T (p.Ser878Cys)
c.2695A>T (p.Ser899Cys)
c.2683A>T (p.Ser895Cys)
2g.144398483T>CCA348707309ZEB2c.*2553A>G (n.*2553A>G)
c.1927A>G (p.Ser643Gly)
c.2704A>G (p.Ser902Gly)
n.2673A>G
c.2368A>G (p.Ser790Gly)
c.2779A>G (p.Ser927Gly)
c.*2421A>G (n.*2421A>G)
n.2804A>G
c.235A>G (p.Ser79Gly)
c.2701A>G (p.Ser901Gly)
c.655+2716A>G (n.655+2716A>G)
c.1168-555A>G (n.1168-555A>G)
c.2632A>G (p.Ser878Gly)
c.2695A>G (p.Ser899Gly)
c.2683A>G (p.Ser895Gly)
2g.144398483T>GCA348707312ZEB2c.*2553A>C (n.*2553A>C)
c.1927A>C (p.Ser643Arg)
c.2704A>C (p.Ser902Arg)
n.2673A>C
c.2368A>C (p.Ser790Arg)
c.2779A>C (p.Ser927Arg)
c.*2421A>C (n.*2421A>C)
n.2804A>C
c.235A>C (p.Ser79Arg)
c.2701A>C (p.Ser901Arg)
c.655+2716A>C (n.655+2716A>C)
c.1168-555A>C (n.1168-555A>C)
c.2632A>C (p.Ser878Arg)
c.2695A>C (p.Ser899Arg)
c.2683A>C (p.Ser895Arg)
2g.144398484T>ACA348707315ZEB2c.*2552A>T (n.*2552A>T)
c.1926A>T (p.Gln642His)
c.2703A>T (p.Gln901His)
n.2672A>T
c.2367A>T (p.Gln789His)
c.2778A>T (p.Gln926His)
c.*2420A>T (n.*2420A>T)
n.2803A>T
c.234A>T (p.Gln78His)
c.2700A>T (p.Gln900His)
c.655+2715A>T (n.655+2715A>T)
c.1168-556A>T (n.1168-556A>T)
c.2631A>T (p.Gln877His)
c.2694A>T (p.Gln898His)
c.2682A>T (p.Gln894His)
2g.144398484T>CCA429444989ZEB2c.*2552A>G (n.*2552A>G)
c.1926A>G (p.Gln642=)
c.2703A>G (p.Gln901=)
n.2672A>G
c.2367A>G (p.Gln789=)
c.2778A>G (p.Gln926=)
c.*2420A>G (n.*2420A>G)
n.2803A>G
c.234A>G (p.Gln78=)
c.2700A>G (p.Gln900=)
c.655+2715A>G (n.655+2715A>G)
c.1168-556A>G (n.1168-556A>G)
c.2631A>G (p.Gln877=)
c.2694A>G (p.Gln898=)
c.2682A>G (p.Gln894=)
gnomAD v4
2g.144398484T>GCA348707316ZEB2c.*2552A>C (n.*2552A>C)
c.1926A>C (p.Gln642His)
c.2703A>C (p.Gln901His)
n.2672A>C
c.2367A>C (p.Gln789His)
c.2778A>C (p.Gln926His)
c.*2420A>C (n.*2420A>C)
n.2803A>C
c.234A>C (p.Gln78His)
c.2700A>C (p.Gln900His)
c.655+2715A>C (n.655+2715A>C)
c.1168-556A>C (n.1168-556A>C)
c.2631A>C (p.Gln877His)
c.2694A>C (p.Gln898His)
c.2682A>C (p.Gln894His)
2g.144398485T>ACA348707320ZEB2c.*2551A>T (n.*2551A>T)
c.1925A>T (p.Gln642Leu)
c.2702A>T (p.Gln901Leu)
n.2671A>T
c.2366A>T (p.Gln789Leu)
c.2777A>T (p.Gln926Leu)
c.*2419A>T (n.*2419A>T)
n.2802A>T
c.233A>T (p.Gln78Leu)
c.2699A>T (p.Gln900Leu)
c.655+2714A>T (n.655+2714A>T)
c.1168-557A>T (n.1168-557A>T)
c.2630A>T (p.Gln877Leu)
c.2693A>T (p.Gln898Leu)
c.2681A>T (p.Gln894Leu)
2g.144398485T>CCA348707324ZEB2c.*2551A>G (n.*2551A>G)
c.1925A>G (p.Gln642Arg)
c.2702A>G (p.Gln901Arg)
n.2671A>G
c.2366A>G (p.Gln789Arg)
c.2777A>G (p.Gln926Arg)
c.*2419A>G (n.*2419A>G)
n.2802A>G
c.233A>G (p.Gln78Arg)
c.2699A>G (p.Gln900Arg)
c.655+2714A>G (n.655+2714A>G)
c.1168-557A>G (n.1168-557A>G)
c.2630A>G (p.Gln877Arg)
c.2693A>G (p.Gln898Arg)
c.2681A>G (p.Gln894Arg)
2g.144398485T>GCA348707322ZEB2c.*2551A>C (n.*2551A>C)
c.1925A>C (p.Gln642Pro)
c.2702A>C (p.Gln901Pro)
n.2671A>C
c.2366A>C (p.Gln789Pro)
c.2777A>C (p.Gln926Pro)
c.*2419A>C (n.*2419A>C)
n.2802A>C
c.233A>C (p.Gln78Pro)
c.2699A>C (p.Gln900Pro)
c.655+2714A>C (n.655+2714A>C)
c.1168-557A>C (n.1168-557A>C)
c.2630A>C (p.Gln877Pro)
c.2693A>C (p.Gln898Pro)
c.2681A>C (p.Gln894Pro)
2g.144398486G>ACA275438ZEB2c.*2550C>T (n.*2550C>T)
c.1924C>T (p.Gln642Ter)
c.2701C>T (p.Gln901Ter)
n.2670C>T
c.2365C>T (p.Gln789Ter)
c.2776C>T (p.Gln926Ter)
c.*2418C>T (n.*2418C>T)
n.2801C>T
c.232C>T (p.Gln78Ter)
c.2698C>T (p.Gln900Ter)
c.655+2713C>T (n.655+2713C>T)
c.1168-558C>T (n.1168-558C>T)
c.2629C>T (p.Gln877Ter)
c.2692C>T (p.Gln898Ter)
c.2680C>T (p.Gln894Ter)
ClinVar dbSNP
2g.144398486G>CCA348707328ZEB2c.*2550C>G (n.*2550C>G)
c.1924C>G (p.Gln642Glu)
c.2701C>G (p.Gln901Glu)
n.2670C>G
c.2365C>G (p.Gln789Glu)
c.2776C>G (p.Gln926Glu)
c.*2418C>G (n.*2418C>G)
n.2801C>G
c.232C>G (p.Gln78Glu)
c.2698C>G (p.Gln900Glu)
c.655+2713C>G (n.655+2713C>G)
c.1168-558C>G (n.1168-558C>G)
c.2629C>G (p.Gln877Glu)
c.2692C>G (p.Gln898Glu)
c.2680C>G (p.Gln894Glu)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.144398486G=CA1294884914ZEB2c.*2550C= (n.*2550C=)
c.1924C= (p.Gln642=)
c.2701C= (p.Gln901=)
n.2670C=
c.2365C= (p.Gln789=)
c.2776C= (p.Gln926=)
c.*2418C= (n.*2418C=)
n.2801C=
c.232C= (p.Gln78=)
c.2698C= (p.Gln900=)
c.655+2713C= (n.655+2713C=)
c.1168-558C= (n.1168-558C=)
c.2629C= (p.Gln877=)
c.2692C= (p.Gln898=)
c.2680C= (p.Gln894=)
2g.144398486G>TCA348707330ZEB2c.*2550C>A (n.*2550C>A)
c.1924C>A (p.Gln642Lys)
c.2701C>A (p.Gln901Lys)
n.2670C>A
c.2365C>A (p.Gln789Lys)
c.2776C>A (p.Gln926Lys)
c.*2418C>A (n.*2418C>A)
n.2801C>A
c.232C>A (p.Gln78Lys)
c.2698C>A (p.Gln900Lys)
c.655+2713C>A (n.655+2713C>A)
c.1168-558C>A (n.1168-558C>A)
c.2629C>A (p.Gln877Lys)
c.2692C>A (p.Gln898Lys)
c.2680C>A (p.Gln894Lys)
2g.144398487A>CCA429444991ZEB2c.*2549T>G (n.*2549T>G)
c.1923T>G (p.Pro641=)
c.2700T>G (p.Pro900=)
n.2669T>G
c.2364T>G (p.Pro788=)
c.2775T>G (p.Pro925=)
c.*2417T>G (n.*2417T>G)
n.2800T>G
c.231T>G (p.Pro77=)
c.2697T>G (p.Pro899=)
c.655+2712T>G (n.655+2712T>G)
c.1168-559T>G (n.1168-559T>G)
c.2628T>G (p.Pro876=)
c.2691T>G (p.Pro897=)
c.2679T>G (p.Pro893=)
2g.144398487A>GCA429444992ZEB2c.*2549T>C (n.*2549T>C)
c.1923T>C (p.Pro641=)
c.2700T>C (p.Pro900=)
n.2669T>C
c.2364T>C (p.Pro788=)
c.2775T>C (p.Pro925=)
c.*2417T>C (n.*2417T>C)
n.2800T>C
c.231T>C (p.Pro77=)
c.2697T>C (p.Pro899=)
c.655+2712T>C (n.655+2712T>C)
c.1168-559T>C (n.1168-559T>C)
c.2628T>C (p.Pro876=)
c.2691T>C (p.Pro897=)
c.2679T>C (p.Pro893=)
2g.144398487A>TCA429444993ZEB2c.*2549T>A (n.*2549T>A)
c.1923T>A (p.Pro641=)
c.2700T>A (p.Pro900=)
n.2669T>A
c.2364T>A (p.Pro788=)
c.2775T>A (p.Pro925=)
c.*2417T>A (n.*2417T>A)
n.2800T>A
c.231T>A (p.Pro77=)
c.2697T>A (p.Pro899=)
c.655+2712T>A (n.655+2712T>A)
c.1168-559T>A (n.1168-559T>A)
c.2628T>A (p.Pro876=)
c.2691T>A (p.Pro897=)
c.2679T>A (p.Pro893=)
2g.144398488G>ACA348707333ZEB2c.*2548C>T (n.*2548C>T)
c.1922C>T (p.Pro641Leu)
c.2699C>T (p.Pro900Leu)
n.2668C>T
c.2363C>T (p.Pro788Leu)
c.2774C>T (p.Pro925Leu)
c.*2416C>T (n.*2416C>T)
n.2799C>T
c.230C>T (p.Pro77Leu)
c.2696C>T (p.Pro899Leu)
c.655+2711C>T (n.655+2711C>T)
c.1168-560C>T (n.1168-560C>T)
c.2627C>T (p.Pro876Leu)
c.2690C>T (p.Pro897Leu)
c.2678C>T (p.Pro893Leu)
2g.144398488G>CCA348707335ZEB2c.*2548C>G (n.*2548C>G)
c.1922C>G (p.Pro641Arg)
c.2699C>G (p.Pro900Arg)
n.2668C>G
c.2363C>G (p.Pro788Arg)
c.2774C>G (p.Pro925Arg)
c.*2416C>G (n.*2416C>G)
n.2799C>G
c.230C>G (p.Pro77Arg)
c.2696C>G (p.Pro899Arg)
c.655+2711C>G (n.655+2711C>G)
c.1168-560C>G (n.1168-560C>G)
c.2627C>G (p.Pro876Arg)
c.2690C>G (p.Pro897Arg)
c.2678C>G (p.Pro893Arg)
2g.144398488G>TCA348707337ZEB2c.*2548C>A (n.*2548C>A)
c.1922C>A (p.Pro641His)
c.2699C>A (p.Pro900His)
n.2668C>A
c.2363C>A (p.Pro788His)
c.2774C>A (p.Pro925His)
c.*2416C>A (n.*2416C>A)
n.2799C>A
c.230C>A (p.Pro77His)
c.2696C>A (p.Pro899His)
c.655+2711C>A (n.655+2711C>A)
c.1168-560C>A (n.1168-560C>A)
c.2627C>A (p.Pro876His)
c.2690C>A (p.Pro897His)
c.2678C>A (p.Pro893His)
2g.144398489delCA2586970075ZEB2c.*2548del (n.*2548del)
c.1922del (p.Pro641LeufsTer30)
c.2699del (p.Pro900LeufsTer30)
n.2668del
c.2363del (p.Pro788LeufsTer30)
c.2774del (p.Pro925LeufsTer30)
c.*2416del (n.*2416del)
n.2799del
c.230del (p.Pro77LeufsTer30)
c.2696del (p.Pro899LeufsTer30)
c.655+2711del (n.655+2711del)
c.1168-560del (n.1168-560del)
c.2627del (p.Pro876LeufsTer30)
c.2690del (p.Pro897LeufsTer30)
c.2678del (p.Pro893LeufsTer30)
2g.144398489G>ACA348707340ZEB2c.*2547C>T (n.*2547C>T)
c.1921C>T (p.Pro641Ser)
c.2698C>T (p.Pro900Ser)
n.2667C>T
c.2362C>T (p.Pro788Ser)
c.2773C>T (p.Pro925Ser)
c.*2415C>T (n.*2415C>T)
n.2798C>T
c.229C>T (p.Pro77Ser)
c.2695C>T (p.Pro899Ser)
c.655+2710C>T (n.655+2710C>T)
c.1168-561C>T (n.1168-561C>T)
c.2626C>T (p.Pro876Ser)
c.2689C>T (p.Pro897Ser)
c.2677C>T (p.Pro893Ser)
2g.144398489G>CCA348707342ZEB2c.*2547C>G (n.*2547C>G)
c.1921C>G (p.Pro641Ala)
c.2698C>G (p.Pro900Ala)
n.2667C>G
c.2362C>G (p.Pro788Ala)
c.2773C>G (p.Pro925Ala)
c.*2415C>G (n.*2415C>G)
n.2798C>G
c.229C>G (p.Pro77Ala)
c.2695C>G (p.Pro899Ala)
c.655+2710C>G (n.655+2710C>G)
c.1168-561C>G (n.1168-561C>G)
c.2626C>G (p.Pro876Ala)
c.2689C>G (p.Pro897Ala)
c.2677C>G (p.Pro893Ala)
2g.144398489G>TCA348707343ZEB2c.*2547C>A (n.*2547C>A)
c.1921C>A (p.Pro641Thr)
c.2698C>A (p.Pro900Thr)
n.2667C>A
c.2362C>A (p.Pro788Thr)
c.2773C>A (p.Pro925Thr)
c.*2415C>A (n.*2415C>A)
n.2798C>A
c.229C>A (p.Pro77Thr)
c.2695C>A (p.Pro899Thr)
c.655+2710C>A (n.655+2710C>A)
c.1168-561C>A (n.1168-561C>A)
c.2626C>A (p.Pro876Thr)
c.2689C>A (p.Pro897Thr)
c.2677C>A (p.Pro893Thr)
2g.144398490T>ACA429444997ZEB2c.*2546A>T (n.*2546A>T)
c.1920A>T (p.Pro640=)
c.2697A>T (p.Pro899=)
n.2666A>T
c.2361A>T (p.Pro787=)
c.2772A>T (p.Pro924=)
c.*2414A>T (n.*2414A>T)
n.2797A>T
c.228A>T (p.Pro76=)
c.2694A>T (p.Pro898=)
c.655+2709A>T (n.655+2709A>T)
c.1168-562A>T (n.1168-562A>T)
c.2625A>T (p.Pro875=)
c.2688A>T (p.Pro896=)
c.2676A>T (p.Pro892=)
2g.144398490T>CCA1898220ZEB2c.*2546A>G (n.*2546A>G)
c.1920A>G (p.Pro640=)
c.2697A>G (p.Pro899=)
n.2666A>G
c.2361A>G (p.Pro787=)
c.2772A>G (p.Pro924=)
c.*2414A>G (n.*2414A>G)
n.2797A>G
c.228A>G (p.Pro76=)
c.2694A>G (p.Pro898=)
c.655+2709A>G (n.655+2709A>G)
c.1168-562A>G (n.1168-562A>G)
c.2625A>G (p.Pro875=)
c.2688A>G (p.Pro896=)
c.2676A>G (p.Pro892=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.144398490T>GCA429444999ZEB2c.*2546A>C (n.*2546A>C)
c.1920A>C (p.Pro640=)
c.2697A>C (p.Pro899=)
n.2666A>C
c.2361A>C (p.Pro787=)
c.2772A>C (p.Pro924=)
c.*2414A>C (n.*2414A>C)
n.2797A>C
c.228A>C (p.Pro76=)
c.2694A>C (p.Pro898=)
c.655+2709A>C (n.655+2709A>C)
c.1168-562A>C (n.1168-562A>C)
c.2625A>C (p.Pro875=)
c.2688A>C (p.Pro896=)
c.2676A>C (p.Pro892=)
2g.144398490T=CA1294884915ZEB2c.*2546A= (n.*2546A=)
c.1920A= (p.Pro640=)
c.2697A= (p.Pro899=)
n.2666A=
c.2361A= (p.Pro787=)
c.2772A= (p.Pro924=)
c.*2414A= (n.*2414A=)
n.2797A=
c.228A= (p.Pro76=)
c.2694A= (p.Pro898=)
c.655+2709A= (n.655+2709A=)
c.1168-562A= (n.1168-562A=)
c.2625A= (p.Pro875=)
c.2688A= (p.Pro896=)
c.2676A= (p.Pro892=)
2g.144398491G>ACA348707354ZEB2c.*2545C>T (n.*2545C>T)
c.1919C>T (p.Pro640Leu)
c.2696C>T (p.Pro899Leu)
n.2665C>T
c.2360C>T (p.Pro787Leu)
c.2771C>T (p.Pro924Leu)
c.*2413C>T (n.*2413C>T)
n.2796C>T
c.227C>T (p.Pro76Leu)
c.2693C>T (p.Pro898Leu)
c.655+2708C>T (n.655+2708C>T)
c.1168-563C>T (n.1168-563C>T)
c.2624C>T (p.Pro875Leu)
c.2687C>T (p.Pro896Leu)
c.2675C>T (p.Pro892Leu)
dbSNP gnomAD v3 gnomAD v4
2g.144398491G>CCA348707352ZEB2c.*2545C>G (n.*2545C>G)
c.1919C>G (p.Pro640Arg)
c.2696C>G (p.Pro899Arg)
n.2665C>G
c.2360C>G (p.Pro787Arg)
c.2771C>G (p.Pro924Arg)
c.*2413C>G (n.*2413C>G)
n.2796C>G
c.227C>G (p.Pro76Arg)
c.2693C>G (p.Pro898Arg)
c.655+2708C>G (n.655+2708C>G)
c.1168-563C>G (n.1168-563C>G)
c.2624C>G (p.Pro875Arg)
c.2687C>G (p.Pro896Arg)
c.2675C>G (p.Pro892Arg)
2g.144398491G=CA1294884916ZEB2c.*2545C= (n.*2545C=)
c.1919C= (p.Pro640=)
c.2696C= (p.Pro899=)
n.2665C=
c.2360C= (p.Pro787=)
c.2771C= (p.Pro924=)
c.*2413C= (n.*2413C=)
n.2796C=
c.227C= (p.Pro76=)
c.2693C= (p.Pro898=)
c.655+2708C= (n.655+2708C=)
c.1168-563C= (n.1168-563C=)
c.2624C= (p.Pro875=)
c.2687C= (p.Pro896=)
c.2675C= (p.Pro892=)
2g.144398491G>TCA348707350ZEB2c.*2545C>A (n.*2545C>A)
c.1919C>A (p.Pro640Gln)
c.2696C>A (p.Pro899Gln)
n.2665C>A
c.2360C>A (p.Pro787Gln)
c.2771C>A (p.Pro924Gln)
c.*2413C>A (n.*2413C>A)
n.2796C>A
c.227C>A (p.Pro76Gln)
c.2693C>A (p.Pro898Gln)
c.655+2708C>A (n.655+2708C>A)
c.1168-563C>A (n.1168-563C>A)
c.2624C>A (p.Pro875Gln)
c.2687C>A (p.Pro896Gln)
c.2675C>A (p.Pro892Gln)
2g.144398492G>ACA348707356ZEB2c.*2544C>T (n.*2544C>T)
c.1918C>T (p.Pro640Ser)
c.2695C>T (p.Pro899Ser)
n.2664C>T
c.2359C>T (p.Pro787Ser)
c.2770C>T (p.Pro924Ser)
c.*2412C>T (n.*2412C>T)
n.2795C>T
c.226C>T (p.Pro76Ser)
c.2692C>T (p.Pro898Ser)
c.655+2707C>T (n.655+2707C>T)
c.1168-564C>T (n.1168-564C>T)
c.2623C>T (p.Pro875Ser)
c.2686C>T (p.Pro896Ser)
c.2674C>T (p.Pro892Ser)
2g.144398492G>CCA348707358ZEB2c.*2544C>G (n.*2544C>G)
c.1918C>G (p.Pro640Ala)
c.2695C>G (p.Pro899Ala)
n.2664C>G
c.2359C>G (p.Pro787Ala)
c.2770C>G (p.Pro924Ala)
c.*2412C>G (n.*2412C>G)
n.2795C>G
c.226C>G (p.Pro76Ala)
c.2692C>G (p.Pro898Ala)
c.655+2707C>G (n.655+2707C>G)
c.1168-564C>G (n.1168-564C>G)
c.2623C>G (p.Pro875Ala)
c.2686C>G (p.Pro896Ala)
c.2674C>G (p.Pro892Ala)
2g.144398492G>TCA348707360ZEB2c.*2544C>A (n.*2544C>A)
c.1918C>A (p.Pro640Thr)
c.2695C>A (p.Pro899Thr)
n.2664C>A
c.2359C>A (p.Pro787Thr)
c.2770C>A (p.Pro924Thr)
c.*2412C>A (n.*2412C>A)
n.2795C>A
c.226C>A (p.Pro76Thr)
c.2692C>A (p.Pro898Thr)
c.655+2707C>A (n.655+2707C>A)
c.1168-564C>A (n.1168-564C>A)
c.2623C>A (p.Pro875Thr)
c.2686C>A (p.Pro896Thr)
c.2674C>A (p.Pro892Thr)
2g.144398493A>CCA429445003ZEB2c.*2543T>G (n.*2543T>G)
c.1917T>G (p.Leu639=)
c.2694T>G (p.Leu898=)
n.2663T>G
c.2358T>G (p.Leu786=)
c.2769T>G (p.Leu923=)
c.*2411T>G (n.*2411T>G)
n.2794T>G
c.225T>G (p.Leu75=)
c.2691T>G (p.Leu897=)
c.655+2706T>G (n.655+2706T>G)
c.1168-565T>G (n.1168-565T>G)
c.2622T>G (p.Leu874=)
c.2685T>G (p.Leu895=)
c.2673T>G (p.Leu891=)
2g.144398493A>GCA429445004ZEB2c.*2543T>C (n.*2543T>C)
c.1917T>C (p.Leu639=)
c.2694T>C (p.Leu898=)
n.2663T>C
c.2358T>C (p.Leu786=)
c.2769T>C (p.Leu923=)
c.*2411T>C (n.*2411T>C)
n.2794T>C
c.225T>C (p.Leu75=)
c.2691T>C (p.Leu897=)
c.655+2706T>C (n.655+2706T>C)
c.1168-565T>C (n.1168-565T>C)
c.2622T>C (p.Leu874=)
c.2685T>C (p.Leu895=)
c.2673T>C (p.Leu891=)
2g.144398493A>TCA429445005ZEB2c.*2543T>A (n.*2543T>A)
c.1917T>A (p.Leu639=)
c.2694T>A (p.Leu898=)
n.2663T>A
c.2358T>A (p.Leu786=)
c.2769T>A (p.Leu923=)
c.*2411T>A (n.*2411T>A)
n.2794T>A
c.225T>A (p.Leu75=)
c.2691T>A (p.Leu897=)
c.655+2706T>A (n.655+2706T>A)
c.1168-565T>A (n.1168-565T>A)
c.2622T>A (p.Leu874=)
c.2685T>A (p.Leu895=)
c.2673T>A (p.Leu891=)
2g.144398494A>CCA348707362ZEB2c.*2542T>G (n.*2542T>G)
c.1916T>G (p.Leu639Arg)
c.2693T>G (p.Leu898Arg)
n.2662T>G
c.2357T>G (p.Leu786Arg)
c.2768T>G (p.Leu923Arg)
c.*2410T>G (n.*2410T>G)
n.2793T>G
c.224T>G (p.Leu75Arg)
c.2690T>G (p.Leu897Arg)
c.655+2705T>G (n.655+2705T>G)
c.1168-566T>G (n.1168-566T>G)
c.2621T>G (p.Leu874Arg)
c.2684T>G (p.Leu895Arg)
c.2672T>G (p.Leu891Arg)
gnomAD v4 COSMIC
2g.144398494A>GCA348707364ZEB2c.*2542T>C (n.*2542T>C)
c.1916T>C (p.Leu639Pro)
c.2693T>C (p.Leu898Pro)
n.2662T>C
c.2357T>C (p.Leu786Pro)
c.2768T>C (p.Leu923Pro)
c.*2410T>C (n.*2410T>C)
n.2793T>C
c.224T>C (p.Leu75Pro)
c.2690T>C (p.Leu897Pro)
c.655+2705T>C (n.655+2705T>C)
c.1168-566T>C (n.1168-566T>C)
c.2621T>C (p.Leu874Pro)
c.2684T>C (p.Leu895Pro)
c.2672T>C (p.Leu891Pro)
2g.144398494A>TCA348707366ZEB2c.*2542T>A (n.*2542T>A)
c.1916T>A (p.Leu639His)
c.2693T>A (p.Leu898His)
n.2662T>A
c.2357T>A (p.Leu786His)
c.2768T>A (p.Leu923His)
c.*2410T>A (n.*2410T>A)
n.2793T>A
c.224T>A (p.Leu75His)
c.2690T>A (p.Leu897His)
c.655+2705T>A (n.655+2705T>A)
c.1168-566T>A (n.1168-566T>A)
c.2621T>A (p.Leu874His)
c.2684T>A (p.Leu895His)
c.2672T>A (p.Leu891His)
2g.144398495G>ACA348707367ZEB2c.*2541C>T (n.*2541C>T)
c.1915C>T (p.Leu639Phe)
c.2692C>T (p.Leu898Phe)
n.2661C>T
c.2356C>T (p.Leu786Phe)
c.2767C>T (p.Leu923Phe)
c.*2409C>T (n.*2409C>T)
n.2792C>T
c.223C>T (p.Leu75Phe)
c.2689C>T (p.Leu897Phe)
c.655+2704C>T (n.655+2704C>T)
c.1168-567C>T (n.1168-567C>T)
c.2620C>T (p.Leu874Phe)
c.2683C>T (p.Leu895Phe)
c.2671C>T (p.Leu891Phe)
ClinVar dbSNP
2g.144398495G>CCA348707369ZEB2c.*2541C>G (n.*2541C>G)
c.1915C>G (p.Leu639Val)
c.2692C>G (p.Leu898Val)
n.2661C>G
c.2356C>G (p.Leu786Val)
c.2767C>G (p.Leu923Val)
c.*2409C>G (n.*2409C>G)
n.2792C>G
c.223C>G (p.Leu75Val)
c.2689C>G (p.Leu897Val)
c.655+2704C>G (n.655+2704C>G)
c.1168-567C>G (n.1168-567C>G)
c.2620C>G (p.Leu874Val)
c.2683C>G (p.Leu895Val)
c.2671C>G (p.Leu891Val)
2g.144398495G=CA1294884917ZEB2c.*2541C= (n.*2541C=)
c.1915C= (p.Leu639=)
c.2692C= (p.Leu898=)
n.2661C=
c.2356C= (p.Leu786=)
c.2767C= (p.Leu923=)
c.*2409C= (n.*2409C=)
n.2792C=
c.223C= (p.Leu75=)
c.2689C= (p.Leu897=)
c.655+2704C= (n.655+2704C=)
c.1168-567C= (n.1168-567C=)
c.2620C= (p.Leu874=)
c.2683C= (p.Leu895=)
c.2671C= (p.Leu891=)
2g.144398495G>TCA348707371ZEB2c.*2541C>A (n.*2541C>A)
c.1915C>A (p.Leu639Ile)
c.2692C>A (p.Leu898Ile)
n.2661C>A
c.2356C>A (p.Leu786Ile)
c.2767C>A (p.Leu923Ile)
c.*2409C>A (n.*2409C>A)
n.2792C>A
c.223C>A (p.Leu75Ile)
c.2689C>A (p.Leu897Ile)
c.655+2704C>A (n.655+2704C>A)
c.1168-567C>A (n.1168-567C>A)
c.2620C>A (p.Leu874Ile)
c.2683C>A (p.Leu895Ile)
c.2671C>A (p.Leu891Ile)
2g.144398496A=CA1294884918ZEB2c.*2540T= (n.*2540T=)
c.1914T= (p.Ala638=)
c.2691T= (p.Ala897=)
n.2660T=
c.2355T= (p.Ala785=)
c.2766T= (p.Ala922=)
c.*2408T= (n.*2408T=)
n.2791T=
c.222T= (p.Ala74=)
c.2688T= (p.Ala896=)
c.655+2703T= (n.655+2703T=)
c.1168-568T= (n.1168-568T=)
c.2619T= (p.Ala873=)
c.2682T= (p.Ala894=)
c.2670T= (p.Ala890=)
2g.144398496A>CCA429445009ZEB2c.*2540T>G (n.*2540T>G)
c.1914T>G (p.Ala638=)
c.2691T>G (p.Ala897=)
n.2660T>G
c.2355T>G (p.Ala785=)
c.2766T>G (p.Ala922=)
c.*2408T>G (n.*2408T>G)
n.2791T>G
c.222T>G (p.Ala74=)
c.2688T>G (p.Ala896=)
c.655+2703T>G (n.655+2703T>G)
c.1168-568T>G (n.1168-568T>G)
c.2619T>G (p.Ala873=)
c.2682T>G (p.Ala894=)
c.2670T>G (p.Ala890=)
2g.144398496A>GCA429445010ZEB2c.*2540T>C (n.*2540T>C)
c.1914T>C (p.Ala638=)
c.2691T>C (p.Ala897=)
n.2660T>C
c.2355T>C (p.Ala785=)
c.2766T>C (p.Ala922=)
c.*2408T>C (n.*2408T>C)
n.2791T>C
c.222T>C (p.Ala74=)
c.2688T>C (p.Ala896=)
c.655+2703T>C (n.655+2703T>C)
c.1168-568T>C (n.1168-568T>C)
c.2619T>C (p.Ala873=)
c.2682T>C (p.Ala894=)
c.2670T>C (p.Ala890=)
2g.144398496A>TCA429445013ZEB2c.*2540T>A (n.*2540T>A)
c.1914T>A (p.Ala638=)
c.2691T>A (p.Ala897=)
n.2660T>A
c.2355T>A (p.Ala785=)
c.2766T>A (p.Ala922=)
c.*2408T>A (n.*2408T>A)
n.2791T>A
c.222T>A (p.Ala74=)
c.2688T>A (p.Ala896=)
c.655+2703T>A (n.655+2703T>A)
c.1168-568T>A (n.1168-568T>A)
c.2619T>A (p.Ala873=)
c.2682T>A (p.Ala894=)
c.2670T>A (p.Ala890=)
ClinVar dbSNP
2g.144398497G>ACA348707373ZEB2c.*2539C>T (n.*2539C>T)
c.1913C>T (p.Ala638Val)
c.2690C>T (p.Ala897Val)
n.2659C>T
c.2354C>T (p.Ala785Val)
c.2765C>T (p.Ala922Val)
c.*2407C>T (n.*2407C>T)
n.2790C>T
c.221C>T (p.Ala74Val)
c.2687C>T (p.Ala896Val)
c.655+2702C>T (n.655+2702C>T)
c.1168-569C>T (n.1168-569C>T)
c.2618C>T (p.Ala873Val)
c.2681C>T (p.Ala894Val)
c.2669C>T (p.Ala890Val)
2g.144398497G>CCA348707375ZEB2c.*2539C>G (n.*2539C>G)
c.1913C>G (p.Ala638Gly)
c.2690C>G (p.Ala897Gly)
n.2659C>G
c.2354C>G (p.Ala785Gly)
c.2765C>G (p.Ala922Gly)
c.*2407C>G (n.*2407C>G)
n.2790C>G
c.221C>G (p.Ala74Gly)
c.2687C>G (p.Ala896Gly)
c.655+2702C>G (n.655+2702C>G)
c.1168-569C>G (n.1168-569C>G)
c.2618C>G (p.Ala873Gly)
c.2681C>G (p.Ala894Gly)
c.2669C>G (p.Ala890Gly)
2g.144398497G>TCA348707377ZEB2c.*2539C>A (n.*2539C>A)
c.1913C>A (p.Ala638Asp)
c.2690C>A (p.Ala897Asp)
n.2659C>A
c.2354C>A (p.Ala785Asp)
c.2765C>A (p.Ala922Asp)
c.*2407C>A (n.*2407C>A)
n.2790C>A
c.221C>A (p.Ala74Asp)
c.2687C>A (p.Ala896Asp)
c.655+2702C>A (n.655+2702C>A)
c.1168-569C>A (n.1168-569C>A)
c.2618C>A (p.Ala873Asp)
c.2681C>A (p.Ala894Asp)
c.2669C>A (p.Ala890Asp)
2g.144398497_144398503delinsGCTGTGTCA1294884919ZEB2c.*2533_*2539delinsACACAGC (n.*2533_*2539delinsACACAGC)
c.1907_1913delinsACACAGC (p.Tyr636=)
c.2684_2690delinsACACAGC (p.Tyr895=)
n.2653_2659delinsACACAGC
c.2348_2354delinsACACAGC (p.Tyr783=)
c.2759_2765delinsACACAGC (p.Tyr920=)
c.*2401_*2407delinsACACAGC (n.*2401_*2407delinsACACAGC)
n.2784_2790delinsACACAGC
c.215_221delinsACACAGC (p.Tyr72=)
c.2681_2687delinsACACAGC (p.Tyr894=)
c.655+2696_655+2702delinsACACAGC (n.655+2696_655+2702delinsACACAGC)
c.1168-575_1168-569delinsACACAGC (n.1168-575_1168-569delinsACACAGC)
c.2612_2618delinsACACAGC (p.Tyr871=)
c.2675_2681delinsACACAGC (p.Tyr892=)
c.2663_2669delinsACACAGC (p.Tyr888=)
2g.144398498C>ACA348707382ZEB2c.*2538G>T (n.*2538G>T)
c.1912G>T (p.Ala638Ser)
c.2689G>T (p.Ala897Ser)
n.2658G>T
c.2353G>T (p.Ala785Ser)
c.2764G>T (p.Ala922Ser)
c.*2406G>T (n.*2406G>T)
n.2789G>T
c.220G>T (p.Ala74Ser)
c.2686G>T (p.Ala896Ser)
c.655+2701G>T (n.655+2701G>T)
c.1168-570G>T (n.1168-570G>T)
c.2617G>T (p.Ala873Ser)
c.2680G>T (p.Ala894Ser)
c.2668G>T (p.Ala890Ser)
2g.144398498C=CA1294884920ZEB2c.*2538G= (n.*2538G=)
c.1912G= (p.Ala638=)
c.2689G= (p.Ala897=)
n.2658G=
c.2353G= (p.Ala785=)
c.2764G= (p.Ala922=)
c.*2406G= (n.*2406G=)
n.2789G=
c.220G= (p.Ala74=)
c.2686G= (p.Ala896=)
c.655+2701G= (n.655+2701G=)
c.1168-570G= (n.1168-570G=)
c.2617G= (p.Ala873=)
c.2680G= (p.Ala894=)
c.2668G= (p.Ala890=)
2g.144398498C>GCA348707384ZEB2c.*2538G>C (n.*2538G>C)
c.1912G>C (p.Ala638Pro)
c.2689G>C (p.Ala897Pro)
n.2658G>C
c.2353G>C (p.Ala785Pro)
c.2764G>C (p.Ala922Pro)
c.*2406G>C (n.*2406G>C)
n.2789G>C
c.220G>C (p.Ala74Pro)
c.2686G>C (p.Ala896Pro)
c.655+2701G>C (n.655+2701G>C)
c.1168-570G>C (n.1168-570G>C)
c.2617G>C (p.Ala873Pro)
c.2680G>C (p.Ala894Pro)
c.2668G>C (p.Ala890Pro)
2g.144398498C>TCA348707380ZEB2c.*2538G>A (n.*2538G>A)
c.1912G>A (p.Ala638Thr)
c.2689G>A (p.Ala897Thr)
n.2658G>A
c.2353G>A (p.Ala785Thr)
c.2764G>A (p.Ala922Thr)
c.*2406G>A (n.*2406G>A)
n.2789G>A
c.220G>A (p.Ala74Thr)
c.2686G>A (p.Ala896Thr)
c.655+2701G>A (n.655+2701G>A)
c.1168-570G>A (n.1168-570G>A)
c.2617G>A (p.Ala873Thr)
c.2680G>A (p.Ala894Thr)
c.2668G>A (p.Ala890Thr)
ClinVar dbSNP gnomAD v4
2g.144398498_144398503delCA916670950ZEB2c.*2533_*2538del (n.*2533_*2538del)
c.1907_1912del (p.Tyr636_Ala638delinsSer)
c.2684_2689del (p.Tyr895_Ala897delinsSer)
n.2653_2658del
c.2348_2353del (p.Tyr783_Ala785delinsSer)
c.2759_2764del (p.Tyr920_Ala922delinsSer)
c.*2401_*2406del (n.*2401_*2406del)
n.2784_2789del
c.215_220del (p.Tyr72_Ala74delinsSer)
c.2681_2686del (p.Tyr894_Ala896delinsSer)
c.655+2696_655+2701del (n.655+2696_655+2701del)
c.1168-575_1168-570del (n.1168-575_1168-570del)
c.2612_2617del (p.Tyr871_Ala873delinsSer)
c.2675_2680del (p.Tyr892_Ala894delinsSer)
c.2663_2668del (p.Tyr888_Ala890delinsSer)
dbSNP
2g.144398499T>ACA429445022ZEB2c.*2537A>T (n.*2537A>T)
c.1911A>T (p.Thr637=)
c.2688A>T (p.Thr896=)
n.2657A>T
c.2352A>T (p.Thr784=)
c.2763A>T (p.Thr921=)
c.*2405A>T (n.*2405A>T)
n.2788A>T
c.219A>T (p.Thr73=)
c.2685A>T (p.Thr895=)
c.655+2700A>T (n.655+2700A>T)
c.1168-571A>T (n.1168-571A>T)
c.2616A>T (p.Thr872=)
c.2679A>T (p.Thr893=)
c.2667A>T (p.Thr889=)
2g.144398499T>CCA429445020ZEB2c.*2537A>G (n.*2537A>G)
c.1911A>G (p.Thr637=)
c.2688A>G (p.Thr896=)
n.2657A>G
c.2352A>G (p.Thr784=)
c.2763A>G (p.Thr921=)
c.*2405A>G (n.*2405A>G)
n.2788A>G
c.219A>G (p.Thr73=)
c.2685A>G (p.Thr895=)
c.655+2700A>G (n.655+2700A>G)
c.1168-571A>G (n.1168-571A>G)
c.2616A>G (p.Thr872=)
c.2679A>G (p.Thr893=)
c.2667A>G (p.Thr889=)
2g.144398499T>GCA429445017ZEB2c.*2537A>C (n.*2537A>C)
c.1911A>C (p.Thr637=)
c.2688A>C (p.Thr896=)
n.2657A>C
c.2352A>C (p.Thr784=)
c.2763A>C (p.Thr921=)
c.*2405A>C (n.*2405A>C)
n.2788A>C
c.219A>C (p.Thr73=)
c.2685A>C (p.Thr895=)
c.655+2700A>C (n.655+2700A>C)
c.1168-571A>C (n.1168-571A>C)
c.2616A>C (p.Thr872=)
c.2679A>C (p.Thr893=)
c.2667A>C (p.Thr889=)
2g.144398499dupCA658657061ZEB2c.*2537dup (n.*2537dup)
c.1911dup (p.Ala638SerfsTer?)
c.2688dup (p.Ala897SerfsTer?)
n.2657dup
c.2352dup (p.Ala785SerfsTer?)
c.2763dup (p.Ala922SerfsTer?)
c.*2405dup (n.*2405dup)
n.2788dup
c.219dup (p.Ala74SerfsTer?)
c.2685dup (p.Ala896SerfsTer?)
c.655+2700dup (n.655+2700dup)
c.1168-571dup (n.1168-571dup)
c.2616dup (p.Ala873SerfsTer?)
c.2679dup (p.Ala894SerfsTer?)
c.2667dup (p.Ala890SerfsTer?)
ClinVar dbSNP
2g.144398502_144398503dupCA274507ZEB2c.*2536_*2537dup (n.*2536_*2537dup)
c.1910_1911dup (p.Ala638GlnfsTer?)
c.2687_2688dup (p.Ala897GlnfsTer?)
n.2656_2657dup
c.2351_2352dup (p.Ala785GlnfsTer?)
c.2762_2763dup (p.Ala922GlnfsTer?)
c.*2404_*2405dup (n.*2404_*2405dup)
n.2787_2788dup
c.218_219dup (p.Ala74GlnfsTer?)
c.2684_2685dup (p.Ala896GlnfsTer?)
c.655+2699_655+2700dup (n.655+2699_655+2700dup)
c.1168-572_1168-571dup (n.1168-572_1168-571dup)
c.2615_2616dup (p.Ala873GlnfsTer?)
c.2678_2679dup (p.Ala894GlnfsTer?)
c.2666_2667dup (p.Ala890GlnfsTer?)
ClinVar dbSNP
2g.144398500G>ACA348707392ZEB2c.*2536C>T (n.*2536C>T)
c.1910C>T (p.Thr637Ile)
c.2687C>T (p.Thr896Ile)
n.2656C>T
c.2351C>T (p.Thr784Ile)
c.2762C>T (p.Thr921Ile)
c.*2404C>T (n.*2404C>T)
n.2787C>T
c.218C>T (p.Thr73Ile)
c.2684C>T (p.Thr895Ile)
c.655+2699C>T (n.655+2699C>T)
c.1168-572C>T (n.1168-572C>T)
c.2615C>T (p.Thr872Ile)
c.2678C>T (p.Thr893Ile)
c.2666C>T (p.Thr889Ile)
2g.144398500G>CCA348707393ZEB2c.*2536C>G (n.*2536C>G)
c.1910C>G (p.Thr637Arg)
c.2687C>G (p.Thr896Arg)
n.2656C>G
c.2351C>G (p.Thr784Arg)
c.2762C>G (p.Thr921Arg)
c.*2404C>G (n.*2404C>G)
n.2787C>G
c.218C>G (p.Thr73Arg)
c.2684C>G (p.Thr895Arg)
c.655+2699C>G (n.655+2699C>G)
c.1168-572C>G (n.1168-572C>G)
c.2615C>G (p.Thr872Arg)
c.2678C>G (p.Thr893Arg)
c.2666C>G (p.Thr889Arg)
2g.144398500G>TCA348707395ZEB2c.*2536C>A (n.*2536C>A)
c.1910C>A (p.Thr637Lys)
c.2687C>A (p.Thr896Lys)
n.2656C>A
c.2351C>A (p.Thr784Lys)
c.2762C>A (p.Thr921Lys)
c.*2404C>A (n.*2404C>A)
n.2787C>A
c.218C>A (p.Thr73Lys)
c.2684C>A (p.Thr895Lys)
c.655+2699C>A (n.655+2699C>A)
c.1168-572C>A (n.1168-572C>A)
c.2615C>A (p.Thr872Lys)
c.2678C>A (p.Thr893Lys)
c.2666C>A (p.Thr889Lys)
2g.144398501T>ACA348707398ZEB2c.*2535A>T (n.*2535A>T)
c.1909A>T (p.Thr637Ser)
c.2686A>T (p.Thr896Ser)
n.2655A>T
c.2350A>T (p.Thr784Ser)
c.2761A>T (p.Thr921Ser)
c.*2403A>T (n.*2403A>T)
n.2786A>T
c.217A>T (p.Thr73Ser)
c.2683A>T (p.Thr895Ser)
c.655+2698A>T (n.655+2698A>T)
c.1168-573A>T (n.1168-573A>T)
c.2614A>T (p.Thr872Ser)
c.2677A>T (p.Thr893Ser)
c.2665A>T (p.Thr889Ser)
2g.144398501T>CCA348707399ZEB2c.*2535A>G (n.*2535A>G)
c.1909A>G (p.Thr637Ala)
c.2686A>G (p.Thr896Ala)
n.2655A>G
c.2350A>G (p.Thr784Ala)
c.2761A>G (p.Thr921Ala)
c.*2403A>G (n.*2403A>G)
n.2786A>G
c.217A>G (p.Thr73Ala)
c.2683A>G (p.Thr895Ala)
c.655+2698A>G (n.655+2698A>G)
c.1168-573A>G (n.1168-573A>G)
c.2614A>G (p.Thr872Ala)
c.2677A>G (p.Thr893Ala)
c.2665A>G (p.Thr889Ala)
2g.144398501T>GCA348707401ZEB2c.*2535A>C (n.*2535A>C)
c.1909A>C (p.Thr637Pro)
c.2686A>C (p.Thr896Pro)
n.2655A>C
c.2350A>C (p.Thr784Pro)
c.2761A>C (p.Thr921Pro)
c.*2403A>C (n.*2403A>C)
n.2786A>C
c.217A>C (p.Thr73Pro)
c.2683A>C (p.Thr895Pro)
c.655+2698A>C (n.655+2698A>C)
c.1168-573A>C (n.1168-573A>C)
c.2614A>C (p.Thr872Pro)
c.2677A>C (p.Thr893Pro)
c.2665A>C (p.Thr889Pro)
2g.144398501_144398505delinsAGTACA2586970076ZEB2c.*2531_*2535delinsTACT (n.*2531_*2535delinsTACT)
c.1905_1909delinsTACT (p.Leu635PhefsTer?)
c.2682_2686delinsTACT (p.Leu894PhefsTer?)
n.2651_2655delinsTACT
c.2346_2350delinsTACT (p.Leu782PhefsTer?)
c.2757_2761delinsTACT (p.Leu919PhefsTer?)
c.*2399_*2403delinsTACT (n.*2399_*2403delinsTACT)
n.2782_2786delinsTACT
c.213_217delinsTACT (p.Leu71PhefsTer?)
c.2679_2683delinsTACT (p.Leu893PhefsTer?)
c.655+2694_655+2698delinsTACT (n.655+2694_655+2698delinsTACT)
c.1168-577_1168-573delinsTACT (n.1168-577_1168-573delinsTACT)
c.2610_2614delinsTACT (p.Leu870PhefsTer?)
c.2673_2677delinsTACT (p.Leu891PhefsTer?)
c.2661_2665delinsTACT (p.Leu887PhefsTer?)
2g.144398502G>ACA429445026ZEB2c.*2534C>T (n.*2534C>T)
c.1908C>T (p.Tyr636=)
c.2685C>T (p.Tyr895=)
n.2654C>T
c.2349C>T (p.Tyr783=)
c.2760C>T (p.Tyr920=)
c.*2402C>T (n.*2402C>T)
n.2785C>T
c.216C>T (p.Tyr72=)
c.2682C>T (p.Tyr894=)
c.655+2697C>T (n.655+2697C>T)
c.1168-574C>T (n.1168-574C>T)
c.2613C>T (p.Tyr871=)
c.2676C>T (p.Tyr892=)
c.2664C>T (p.Tyr888=)
gnomAD v4
2g.144398502G>CCA348707404ZEB2c.*2534C>G (n.*2534C>G)
c.1908C>G (p.Tyr636Ter)
c.2685C>G (p.Tyr895Ter)
n.2654C>G
c.2349C>G (p.Tyr783Ter)
c.2760C>G (p.Tyr920Ter)
c.*2402C>G (n.*2402C>G)
n.2785C>G
c.216C>G (p.Tyr72Ter)
c.2682C>G (p.Tyr894Ter)
c.655+2697C>G (n.655+2697C>G)
c.1168-574C>G (n.1168-574C>G)
c.2613C>G (p.Tyr871Ter)
c.2676C>G (p.Tyr892Ter)
c.2664C>G (p.Tyr888Ter)
2g.144398502G>TCA348707405ZEB2c.*2534C>A (n.*2534C>A)
c.1908C>A (p.Tyr636Ter)
c.2685C>A (p.Tyr895Ter)
n.2654C>A
c.2349C>A (p.Tyr783Ter)
c.2760C>A (p.Tyr920Ter)
c.*2402C>A (n.*2402C>A)
n.2785C>A
c.216C>A (p.Tyr72Ter)
c.2682C>A (p.Tyr894Ter)
c.655+2697C>A (n.655+2697C>A)
c.1168-574C>A (n.1168-574C>A)
c.2613C>A (p.Tyr871Ter)
c.2676C>A (p.Tyr892Ter)
c.2664C>A (p.Tyr888Ter)
2g.144398503T>ACA348707408ZEB2c.*2533A>T (n.*2533A>T)
c.1907A>T (p.Tyr636Phe)
c.2684A>T (p.Tyr895Phe)
n.2653A>T
c.2348A>T (p.Tyr783Phe)
c.2759A>T (p.Tyr920Phe)
c.*2401A>T (n.*2401A>T)
n.2784A>T
c.215A>T (p.Tyr72Phe)
c.2681A>T (p.Tyr894Phe)
c.655+2696A>T (n.655+2696A>T)
c.1168-575A>T (n.1168-575A>T)
c.2612A>T (p.Tyr871Phe)
c.2675A>T (p.Tyr892Phe)
c.2663A>T (p.Tyr888Phe)
2g.144398503T>CCA348707409ZEB2c.*2533A>G (n.*2533A>G)
c.1907A>G (p.Tyr636Cys)
c.2684A>G (p.Tyr895Cys)
n.2653A>G
c.2348A>G (p.Tyr783Cys)
c.2759A>G (p.Tyr920Cys)
c.*2401A>G (n.*2401A>G)
n.2784A>G
c.215A>G (p.Tyr72Cys)
c.2681A>G (p.Tyr894Cys)
c.655+2696A>G (n.655+2696A>G)
c.1168-575A>G (n.1168-575A>G)
c.2612A>G (p.Tyr871Cys)
c.2675A>G (p.Tyr892Cys)
c.2663A>G (p.Tyr888Cys)
gnomAD v4
2g.144398503T>GCA348707411ZEB2c.*2533A>C (n.*2533A>C)
c.1907A>C (p.Tyr636Ser)
c.2684A>C (p.Tyr895Ser)
n.2653A>C
c.2348A>C (p.Tyr783Ser)
c.2759A>C (p.Tyr920Ser)
c.*2401A>C (n.*2401A>C)
n.2784A>C
c.215A>C (p.Tyr72Ser)
c.2681A>C (p.Tyr894Ser)
c.655+2696A>C (n.655+2696A>C)
c.1168-575A>C (n.1168-575A>C)
c.2612A>C (p.Tyr871Ser)
c.2675A>C (p.Tyr892Ser)
c.2663A>C (p.Tyr888Ser)
2g.144398504A>CCA348707415ZEB2c.*2532T>G (n.*2532T>G)
c.1906T>G (p.Tyr636Asp)
c.2683T>G (p.Tyr895Asp)
n.2652T>G
c.2347T>G (p.Tyr783Asp)
c.2758T>G (p.Tyr920Asp)
c.*2400T>G (n.*2400T>G)
n.2783T>G
c.214T>G (p.Tyr72Asp)
c.2680T>G (p.Tyr894Asp)
c.655+2695T>G (n.655+2695T>G)
c.1168-576T>G (n.1168-576T>G)
c.2611T>G (p.Tyr871Asp)
c.2674T>G (p.Tyr892Asp)
c.2662T>G (p.Tyr888Asp)
2g.144398504A>GCA348707413ZEB2c.*2532T>C (n.*2532T>C)
c.1906T>C (p.Tyr636His)
c.2683T>C (p.Tyr895His)
n.2652T>C
c.2347T>C (p.Tyr783His)
c.2758T>C (p.Tyr920His)
c.*2400T>C (n.*2400T>C)
n.2783T>C
c.214T>C (p.Tyr72His)
c.2680T>C (p.Tyr894His)
c.655+2695T>C (n.655+2695T>C)
c.1168-576T>C (n.1168-576T>C)
c.2611T>C (p.Tyr871His)
c.2674T>C (p.Tyr892His)
c.2662T>C (p.Tyr888His)
2g.144398504A>TCA348707414ZEB2c.*2532T>A (n.*2532T>A)
c.1906T>A (p.Tyr636Asn)
c.2683T>A (p.Tyr895Asn)
n.2652T>A
c.2347T>A (p.Tyr783Asn)
c.2758T>A (p.Tyr920Asn)
c.*2400T>A (n.*2400T>A)
n.2783T>A
c.214T>A (p.Tyr72Asn)
c.2680T>A (p.Tyr894Asn)
c.655+2695T>A (n.655+2695T>A)
c.1168-576T>A (n.1168-576T>A)
c.2611T>A (p.Tyr871Asn)
c.2674T>A (p.Tyr892Asn)
c.2662T>A (p.Tyr888Asn)
2g.144398505delCA2697551037ZEB2c.*2531del (n.*2531del)
c.1905del (p.Leu635PhefsTer?)
c.2682del (p.Leu894PhefsTer?)
n.2651del
c.2346del (p.Leu782PhefsTer?)
c.2757del (p.Leu919PhefsTer?)
c.*2399del (n.*2399del)
n.2782del
c.213del (p.Leu71PhefsTer?)
c.2679del (p.Leu893PhefsTer?)
c.655+2694del (n.655+2694del)
c.1168-577del (n.1168-577del)
c.2610del (p.Leu870PhefsTer?)
c.2673del (p.Leu891PhefsTer?)
c.2661del (p.Leu887PhefsTer?)
ClinVar
2g.144398505T>ACA348707417ZEB2c.*2531A>T (n.*2531A>T)
c.1905A>T (p.Leu635Phe)
c.2682A>T (p.Leu894Phe)
n.2651A>T
c.2346A>T (p.Leu782Phe)
c.2757A>T (p.Leu919Phe)
c.*2399A>T (n.*2399A>T)
n.2782A>T
c.213A>T (p.Leu71Phe)
c.2679A>T (p.Leu893Phe)
c.655+2694A>T (n.655+2694A>T)
c.1168-577A>T (n.1168-577A>T)
c.2610A>T (p.Leu870Phe)
c.2673A>T (p.Leu891Phe)
c.2661A>T (p.Leu887Phe)
2g.144398505T>CCA429445031ZEB2c.*2531A>G (n.*2531A>G)
c.1905A>G (p.Leu635=)
c.2682A>G (p.Leu894=)
n.2651A>G
c.2346A>G (p.Leu782=)
c.2757A>G (p.Leu919=)
c.*2399A>G (n.*2399A>G)
n.2782A>G
c.213A>G (p.Leu71=)
c.2679A>G (p.Leu893=)
c.655+2694A>G (n.655+2694A>G)
c.1168-577A>G (n.1168-577A>G)
c.2610A>G (p.Leu870=)
c.2673A>G (p.Leu891=)
c.2661A>G (p.Leu887=)
dbSNP
2g.144398505T>GCA348707419ZEB2c.*2531A>C (n.*2531A>C)
c.1905A>C (p.Leu635Phe)
c.2682A>C (p.Leu894Phe)
n.2651A>C
c.2346A>C (p.Leu782Phe)
c.2757A>C (p.Leu919Phe)
c.*2399A>C (n.*2399A>C)
n.2782A>C
c.213A>C (p.Leu71Phe)
c.2679A>C (p.Leu893Phe)
c.655+2694A>C (n.655+2694A>C)
c.1168-577A>C (n.1168-577A>C)
c.2610A>C (p.Leu870Phe)
c.2673A>C (p.Leu891Phe)
c.2661A>C (p.Leu887Phe)
2g.144398505T=CA1294884921ZEB2c.*2531A= (n.*2531A=)
c.1905A= (p.Leu635=)
c.2682A= (p.Leu894=)
n.2651A=
c.2346A= (p.Leu782=)
c.2757A= (p.Leu919=)
c.*2399A= (n.*2399A=)
n.2782A=
c.213A= (p.Leu71=)
c.2679A= (p.Leu893=)
c.655+2694A= (n.655+2694A=)
c.1168-577A= (n.1168-577A=)
c.2610A= (p.Leu870=)
c.2673A= (p.Leu891=)
c.2661A= (p.Leu887=)
2g.144398506A>CCA348707422ZEB2c.*2530T>G (n.*2530T>G)
c.1904T>G (p.Leu635Ter)
c.2681T>G (p.Leu894Ter)
n.2650T>G
c.2345T>G (p.Leu782Ter)
c.2756T>G (p.Leu919Ter)
c.*2398T>G (n.*2398T>G)
n.2781T>G
c.212T>G (p.Leu71Ter)
c.2678T>G (p.Leu893Ter)
c.655+2693T>G (n.655+2693T>G)
c.1168-578T>G (n.1168-578T>G)
c.2609T>G (p.Leu870Ter)
c.2672T>G (p.Leu891Ter)
c.2660T>G (p.Leu887Ter)
2g.144398506A>GCA348707424ZEB2c.*2530T>C (n.*2530T>C)
c.1904T>C (p.Leu635Ser)
c.2681T>C (p.Leu894Ser)
n.2650T>C
c.2345T>C (p.Leu782Ser)
c.2756T>C (p.Leu919Ser)
c.*2398T>C (n.*2398T>C)
n.2781T>C
c.212T>C (p.Leu71Ser)
c.2678T>C (p.Leu893Ser)
c.655+2693T>C (n.655+2693T>C)
c.1168-578T>C (n.1168-578T>C)
c.2609T>C (p.Leu870Ser)
c.2672T>C (p.Leu891Ser)
c.2660T>C (p.Leu887Ser)
2g.144398506A>TCA348707426ZEB2c.*2530T>A (n.*2530T>A)
c.1904T>A (p.Leu635Ter)
c.2681T>A (p.Leu894Ter)
n.2650T>A
c.2345T>A (p.Leu782Ter)
c.2756T>A (p.Leu919Ter)
c.*2398T>A (n.*2398T>A)
n.2781T>A
c.212T>A (p.Leu71Ter)
c.2678T>A (p.Leu893Ter)
c.655+2693T>A (n.655+2693T>A)
c.1168-578T>A (n.1168-578T>A)
c.2609T>A (p.Leu870Ter)
c.2672T>A (p.Leu891Ter)
c.2660T>A (p.Leu887Ter)
2g.144398507A=CA1294884922ZEB2c.*2529T= (n.*2529T=)
c.1903T= (p.Leu635=)
c.2680T= (p.Leu894=)
n.2649T=
c.2344T= (p.Leu782=)
c.2755T= (p.Leu919=)
c.*2397T= (n.*2397T=)
n.2780T=
c.211T= (p.Leu71=)
c.2677T= (p.Leu893=)
c.655+2692T= (n.655+2692T=)
c.1168-579T= (n.1168-579T=)
c.2608T= (p.Leu870=)
c.2671T= (p.Leu891=)
c.2659T= (p.Leu887=)
2g.144398507A>CCA348707429ZEB2c.*2529T>G (n.*2529T>G)
c.1903T>G (p.Leu635Val)
c.2680T>G (p.Leu894Val)
n.2649T>G
c.2344T>G (p.Leu782Val)
c.2755T>G (p.Leu919Val)
c.*2397T>G (n.*2397T>G)
n.2780T>G
c.211T>G (p.Leu71Val)
c.2677T>G (p.Leu893Val)
c.655+2692T>G (n.655+2692T>G)
c.1168-579T>G (n.1168-579T>G)
c.2608T>G (p.Leu870Val)
c.2671T>G (p.Leu891Val)
c.2659T>G (p.Leu887Val)
2g.144398507A>GCA429445033ZEB2c.*2529T>C (n.*2529T>C)
c.1903T>C (p.Leu635=)
c.2680T>C (p.Leu894=)
n.2649T>C
c.2344T>C (p.Leu782=)
c.2755T>C (p.Leu919=)
c.*2397T>C (n.*2397T>C)
n.2780T>C
c.211T>C (p.Leu71=)
c.2677T>C (p.Leu893=)
c.655+2692T>C (n.655+2692T>C)
c.1168-579T>C (n.1168-579T>C)
c.2608T>C (p.Leu870=)
c.2671T>C (p.Leu891=)
c.2659T>C (p.Leu887=)
dbSNP gnomAD v2 gnomAD v4
2g.144398507A>TCA348707431ZEB2c.*2529T>A (n.*2529T>A)
c.1903T>A (p.Leu635Ile)
c.2680T>A (p.Leu894Ile)
n.2649T>A
c.2344T>A (p.Leu782Ile)
c.2755T>A (p.Leu919Ile)
c.*2397T>A (n.*2397T>A)
n.2780T>A
c.211T>A (p.Leu71Ile)
c.2677T>A (p.Leu893Ile)
c.655+2692T>A (n.655+2692T>A)
c.1168-579T>A (n.1168-579T>A)
c.2608T>A (p.Leu870Ile)
c.2671T>A (p.Leu891Ile)
c.2659T>A (p.Leu887Ile)
2g.144398508A=CA1294884923ZEB2c.*2528T= (n.*2528T=)
c.1902T= (p.Pro634=)
c.2679T= (p.Pro893=)
n.2648T=
c.2343T= (p.Pro781=)
c.2754T= (p.Pro918=)
c.*2396T= (n.*2396T=)
n.2779T=
c.210T= (p.Pro70=)
c.2676T= (p.Pro892=)
c.655+2691T= (n.655+2691T=)
c.1168-580T= (n.1168-580T=)
c.2607T= (p.Pro869=)
c.2670T= (p.Pro890=)
c.2658T= (p.Pro886=)
2g.144398508A>CCA429445034ZEB2c.*2528T>G (n.*2528T>G)
c.1902T>G (p.Pro634=)
c.2679T>G (p.Pro893=)
n.2648T>G
c.2343T>G (p.Pro781=)
c.2754T>G (p.Pro918=)
c.*2396T>G (n.*2396T>G)
n.2779T>G
c.210T>G (p.Pro70=)
c.2676T>G (p.Pro892=)
c.655+2691T>G (n.655+2691T>G)
c.1168-580T>G (n.1168-580T>G)
c.2607T>G (p.Pro869=)
c.2670T>G (p.Pro890=)
c.2658T>G (p.Pro886=)
2g.144398508A>GCA429445035ZEB2c.*2528T>C (n.*2528T>C)
c.1902T>C (p.Pro634=)
c.2679T>C (p.Pro893=)
n.2648T>C
c.2343T>C (p.Pro781=)
c.2754T>C (p.Pro918=)
c.*2396T>C (n.*2396T>C)
n.2779T>C
c.210T>C (p.Pro70=)
c.2676T>C (p.Pro892=)
c.655+2691T>C (n.655+2691T>C)
c.1168-580T>C (n.1168-580T>C)
c.2607T>C (p.Pro869=)
c.2670T>C (p.Pro890=)
c.2658T>C (p.Pro886=)
2g.144398508A>TCA1898221ZEB2c.*2528T>A (n.*2528T>A)
c.1902T>A (p.Pro634=)
c.2679T>A (p.Pro893=)
n.2648T>A
c.2343T>A (p.Pro781=)
c.2754T>A (p.Pro918=)
c.*2396T>A (n.*2396T>A)
n.2779T>A
c.210T>A (p.Pro70=)
c.2676T>A (p.Pro892=)
c.655+2691T>A (n.655+2691T>A)
c.1168-580T>A (n.1168-580T>A)
c.2607T>A (p.Pro869=)
c.2670T>A (p.Pro890=)
c.2658T>A (p.Pro886=)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.144398508_144398515delinsAGGTTTGGCA1294884924ZEB2c.*2521_*2528delinsCCAAACCT (n.*2521_*2528delinsCCAAACCT)
c.1895_1902delinsCCAAACCT (p.Ala632=)
c.2672_2679delinsCCAAACCT (p.Ala891=)
n.2641_2648delinsCCAAACCT
c.2336_2343delinsCCAAACCT (p.Ala779=)
c.2747_2754delinsCCAAACCT (p.Ala916=)
c.*2389_*2396delinsCCAAACCT (n.*2389_*2396delinsCCAAACCT)
n.2772_2779delinsCCAAACCT
c.203_210delinsCCAAACCT (p.Ala68=)
c.2669_2676delinsCCAAACCT (p.Ala890=)
c.655+2684_655+2691delinsCCAAACCT (n.655+2684_655+2691delinsCCAAACCT)
c.1168-587_1168-580delinsCCAAACCT (n.1168-587_1168-580delinsCCAAACCT)
c.2600_2607delinsCCAAACCT (p.Ala867=)
c.2663_2670delinsCCAAACCT (p.Ala888=)
c.2651_2658delinsCCAAACCT (p.Ala884=)
2g.144398509G>ACA348707437ZEB2c.*2527C>T (n.*2527C>T)
c.1901C>T (p.Pro634Leu)
c.2678C>T (p.Pro893Leu)
n.2647C>T
c.2342C>T (p.Pro781Leu)
c.2753C>T (p.Pro918Leu)
c.*2395C>T (n.*2395C>T)
n.2778C>T
c.209C>T (p.Pro70Leu)
c.2675C>T (p.Pro892Leu)
c.655+2690C>T (n.655+2690C>T)
c.1168-581C>T (n.1168-581C>T)
c.2606C>T (p.Pro869Leu)
c.2669C>T (p.Pro890Leu)
c.2657C>T (p.Pro886Leu)
ClinVar dbSNP gnomAD v2 gnomAD v4
2g.144398509G>CCA348707439ZEB2c.*2527C>G (n.*2527C>G)
c.1901C>G (p.Pro634Arg)
c.2678C>G (p.Pro893Arg)
n.2647C>G
c.2342C>G (p.Pro781Arg)
c.2753C>G (p.Pro918Arg)
c.*2395C>G (n.*2395C>G)
n.2778C>G
c.209C>G (p.Pro70Arg)
c.2675C>G (p.Pro892Arg)
c.655+2690C>G (n.655+2690C>G)
c.1168-581C>G (n.1168-581C>G)
c.2606C>G (p.Pro869Arg)
c.2669C>G (p.Pro890Arg)
c.2657C>G (p.Pro886Arg)
dbSNP gnomAD v4
2g.144398509G=CA1294884925ZEB2c.*2527C= (n.*2527C=)
c.1901C= (p.Pro634=)
c.2678C= (p.Pro893=)
n.2647C=
c.2342C= (p.Pro781=)
c.2753C= (p.Pro918=)
c.*2395C= (n.*2395C=)
n.2778C=
c.209C= (p.Pro70=)
c.2675C= (p.Pro892=)
c.655+2690C= (n.655+2690C=)
c.1168-581C= (n.1168-581C=)
c.2606C= (p.Pro869=)
c.2669C= (p.Pro890=)
c.2657C= (p.Pro886=)
2g.144398509G>TCA348707441ZEB2c.*2527C>A (n.*2527C>A)
c.1901C>A (p.Pro634His)
c.2678C>A (p.Pro893His)
n.2647C>A
c.2342C>A (p.Pro781His)
c.2753C>A (p.Pro918His)
c.*2395C>A (n.*2395C>A)
n.2778C>A
c.209C>A (p.Pro70His)
c.2675C>A (p.Pro892His)
c.655+2690C>A (n.655+2690C>A)
c.1168-581C>A (n.1168-581C>A)
c.2606C>A (p.Pro869His)
c.2669C>A (p.Pro890His)
c.2657C>A (p.Pro886His)
ClinVar dbSNP gnomAD v2 gnomAD v4
2g.144398510delCA2586970078ZEB2c.*2527del (n.*2527del)
c.1901del (p.Pro634LeufsTer?)
c.2678del (p.Pro893LeufsTer?)
n.2647del
c.2342del (p.Pro781LeufsTer?)
c.2753del (p.Pro918LeufsTer?)
c.*2395del (n.*2395del)
n.2778del
c.209del (p.Pro70LeufsTer?)
c.2675del (p.Pro892LeufsTer?)
c.655+2690del (n.655+2690del)
c.1168-581del (n.1168-581del)
c.2606del (p.Pro869LeufsTer?)
c.2669del (p.Pro890LeufsTer?)
c.2657del (p.Pro886LeufsTer?)
2g.144398509_144398515delCA10583992ZEB2c.*2521_*2527del (n.*2521_*2527del)
c.1895_1901del (p.Ala632ValfsTer?)
c.2672_2678del (p.Ala891ValfsTer?)
n.2641_2647del
c.2336_2342del (p.Ala779ValfsTer?)
c.2747_2753del (p.Ala916ValfsTer?)
c.*2389_*2395del (n.*2389_*2395del)
n.2772_2778del
c.203_209del (p.Ala68ValfsTer?)
c.2669_2675del (p.Ala890ValfsTer?)
c.655+2684_655+2690del (n.655+2684_655+2690del)
c.1168-587_1168-581del (n.1168-587_1168-581del)
c.2600_2606del (p.Ala867ValfsTer?)
c.2663_2669del (p.Ala888ValfsTer?)
c.2651_2657del (p.Ala884ValfsTer?)
ClinVar dbSNP
2g.144398511_144398515delCA429445038ZEB2c.*2523_*2527del (n.*2523_*2527del)
c.1897_1901del (p.Lys633PhefsTer?)
c.2674_2678del (p.Lys892PhefsTer?)
n.2643_2647del
c.2338_2342del (p.Lys780PhefsTer?)
c.2749_2753del (p.Lys917PhefsTer?)
c.*2391_*2395del (n.*2391_*2395del)
n.2774_2778del
c.205_209del (p.Lys69PhefsTer?)
c.2671_2675del (p.Lys891PhefsTer?)
c.655+2686_655+2690del (n.655+2686_655+2690del)
c.1168-585_1168-581del (n.1168-585_1168-581del)
c.2602_2606del (p.Lys868PhefsTer?)
c.2665_2669del (p.Lys889PhefsTer?)
c.2653_2657del (p.Lys885PhefsTer?)
2g.144398510_144398515delCA2586970077ZEB2c.*2522_*2527del (n.*2522_*2527del)
c.1896_1901del (p.Lys633_Pro634del)
c.2673_2678del (p.Lys892_Pro893del)
n.2642_2647del
c.2337_2342del (p.Lys780_Pro781del)
c.2748_2753del (p.Lys917_Pro918del)
c.*2390_*2395del (n.*2390_*2395del)
n.2773_2778del
c.204_209del (p.Lys69_Pro70del)
c.2670_2675del (p.Lys891_Pro892del)
c.655+2685_655+2690del (n.655+2685_655+2690del)
c.1168-586_1168-581del (n.1168-586_1168-581del)
c.2601_2606del (p.Lys868_Pro869del)
c.2664_2669del (p.Lys889_Pro890del)
c.2652_2657del (p.Lys885_Pro886del)
2g.144398510G>ACA348707447ZEB2c.*2526C>T (n.*2526C>T)
c.1900C>T (p.Pro634Ser)
c.2677C>T (p.Pro893Ser)
n.2646C>T
c.2341C>T (p.Pro781Ser)
c.2752C>T (p.Pro918Ser)
c.*2394C>T (n.*2394C>T)
n.2777C>T
c.208C>T (p.Pro70Ser)
c.2674C>T (p.Pro892Ser)
c.655+2689C>T (n.655+2689C>T)
c.1168-582C>T (n.1168-582C>T)
c.2605C>T (p.Pro869Ser)
c.2668C>T (p.Pro890Ser)
c.2656C>T (p.Pro886Ser)
ClinVar COSMIC
2g.144398510G>CCA348707449ZEB2c.*2526C>G (n.*2526C>G)
c.1900C>G (p.Pro634Ala)
c.2677C>G (p.Pro893Ala)
n.2646C>G
c.2341C>G (p.Pro781Ala)
c.2752C>G (p.Pro918Ala)
c.*2394C>G (n.*2394C>G)
n.2777C>G
c.208C>G (p.Pro70Ala)
c.2674C>G (p.Pro892Ala)
c.655+2689C>G (n.655+2689C>G)
c.1168-582C>G (n.1168-582C>G)
c.2605C>G (p.Pro869Ala)
c.2668C>G (p.Pro890Ala)
c.2656C>G (p.Pro886Ala)
COSMIC
2g.144398510G>TCA348707445ZEB2c.*2526C>A (n.*2526C>A)
c.1900C>A (p.Pro634Thr)
c.2677C>A (p.Pro893Thr)
n.2646C>A
c.2341C>A (p.Pro781Thr)
c.2752C>A (p.Pro918Thr)
c.*2394C>A (n.*2394C>A)
n.2777C>A
c.208C>A (p.Pro70Thr)
c.2674C>A (p.Pro892Thr)
c.655+2689C>A (n.655+2689C>A)
c.1168-582C>A (n.1168-582C>A)
c.2605C>A (p.Pro869Thr)
c.2668C>A (p.Pro890Thr)
c.2656C>A (p.Pro886Thr)
ClinVar
2g.144398510_144398517delCA2586970079ZEB2c.*2519_*2526del (n.*2519_*2526del)
c.1893_1900del (p.Ala632PhefsTer?)
c.2670_2677del (p.Ala891PhefsTer?)
n.2639_2646del
c.2334_2341del (p.Ala779PhefsTer?)
c.2745_2752del (p.Ala916PhefsTer?)
c.*2387_*2394del (n.*2387_*2394del)
n.2770_2777del
c.201_208del (p.Ala68PhefsTer?)
c.2667_2674del (p.Ala890PhefsTer?)
c.655+2682_655+2689del (n.655+2682_655+2689del)
c.1168-589_1168-582del (n.1168-589_1168-582del)
c.2598_2605del (p.Ala867PhefsTer?)
c.2661_2668del (p.Ala888PhefsTer?)
c.2649_2656del (p.Ala884PhefsTer?)
2g.144398511T>ACA348707452ZEB2c.*2525A>T (n.*2525A>T)
c.1899A>T (p.Lys633Asn)
c.2676A>T (p.Lys892Asn)
n.2645A>T
c.2340A>T (p.Lys780Asn)
c.2751A>T (p.Lys917Asn)
c.*2393A>T (n.*2393A>T)
n.2776A>T
c.207A>T (p.Lys69Asn)
c.2673A>T (p.Lys891Asn)
c.655+2688A>T (n.655+2688A>T)
c.1168-583A>T (n.1168-583A>T)
c.2604A>T (p.Lys868Asn)
c.2667A>T (p.Lys889Asn)
c.2655A>T (p.Lys885Asn)
2g.144398511T>CCA429445039ZEB2c.*2525A>G (n.*2525A>G)
c.1899A>G (p.Lys633=)
c.2676A>G (p.Lys892=)
n.2645A>G
c.2340A>G (p.Lys780=)
c.2751A>G (p.Lys917=)
c.*2393A>G (n.*2393A>G)
n.2776A>G
c.207A>G (p.Lys69=)
c.2673A>G (p.Lys891=)
c.655+2688A>G (n.655+2688A>G)
c.1168-583A>G (n.1168-583A>G)
c.2604A>G (p.Lys868=)
c.2667A>G (p.Lys889=)
c.2655A>G (p.Lys885=)
2g.144398511T>GCA348707454ZEB2c.*2525A>C (n.*2525A>C)
c.1899A>C (p.Lys633Asn)
c.2676A>C (p.Lys892Asn)
n.2645A>C
c.2340A>C (p.Lys780Asn)
c.2751A>C (p.Lys917Asn)
c.*2393A>C (n.*2393A>C)
n.2776A>C
c.207A>C (p.Lys69Asn)
c.2673A>C (p.Lys891Asn)
c.655+2688A>C (n.655+2688A>C)
c.1168-583A>C (n.1168-583A>C)
c.2604A>C (p.Lys868Asn)
c.2667A>C (p.Lys889Asn)
c.2655A>C (p.Lys885Asn)
2g.144398512_144398531dupCA2586970080ZEB2c.*2506_*2525dup (n.*2506_*2525dup)
c.1880_1899dup (p.Pro634Ter)
c.2657_2676dup (p.Pro893Ter)
n.2626_2645dup
c.2321_2340dup (p.Pro781Ter)
c.2732_2751dup (p.Pro918Ter)
c.*2374_*2393dup (n.*2374_*2393dup)
n.2757_2776dup
c.188_207dup (p.Pro70Ter)
c.2654_2673dup (p.Pro892Ter)
c.655+2669_655+2688dup (n.655+2669_655+2688dup)
c.1168-602_1168-583dup (n.1168-602_1168-583dup)
c.2585_2604dup (p.Pro869Ter)
c.2648_2667dup (p.Pro890Ter)
c.2636_2655dup (p.Pro886Ter)
2g.144398512T>ACA348707457ZEB2c.*2524A>T (n.*2524A>T)
c.1898A>T (p.Lys633Ile)
c.2675A>T (p.Lys892Ile)
n.2644A>T
c.2339A>T (p.Lys780Ile)
c.2750A>T (p.Lys917Ile)
c.*2392A>T (n.*2392A>T)
n.2775A>T
c.206A>T (p.Lys69Ile)
c.2672A>T (p.Lys891Ile)
c.655+2687A>T (n.655+2687A>T)
c.1168-584A>T (n.1168-584A>T)
c.2603A>T (p.Lys868Ile)
c.2666A>T (p.Lys889Ile)
c.2654A>T (p.Lys885Ile)
2g.144398512T>CCA348707459ZEB2c.*2524A>G (n.*2524A>G)
c.1898A>G (p.Lys633Arg)
c.2675A>G (p.Lys892Arg)
n.2644A>G
c.2339A>G (p.Lys780Arg)
c.2750A>G (p.Lys917Arg)
c.*2392A>G (n.*2392A>G)
n.2775A>G
c.206A>G (p.Lys69Arg)
c.2672A>G (p.Lys891Arg)
c.655+2687A>G (n.655+2687A>G)
c.1168-584A>G (n.1168-584A>G)
c.2603A>G (p.Lys868Arg)
c.2666A>G (p.Lys889Arg)
c.2654A>G (p.Lys885Arg)
gnomAD v4
2g.144398512T>GCA348707462ZEB2c.*2524A>C (n.*2524A>C)
c.1898A>C (p.Lys633Thr)
c.2675A>C (p.Lys892Thr)
n.2644A>C
c.2339A>C (p.Lys780Thr)
c.2750A>C (p.Lys917Thr)
c.*2392A>C (n.*2392A>C)
n.2775A>C
c.206A>C (p.Lys69Thr)
c.2672A>C (p.Lys891Thr)
c.655+2687A>C (n.655+2687A>C)
c.1168-584A>C (n.1168-584A>C)
c.2603A>C (p.Lys868Thr)
c.2666A>C (p.Lys889Thr)
c.2654A>C (p.Lys885Thr)
2g.144398513T>ACA348707465ZEB2c.*2523A>T (n.*2523A>T)
c.1897A>T (p.Lys633Ter)
c.2674A>T (p.Lys892Ter)
n.2643A>T
c.2338A>T (p.Lys780Ter)
c.2749A>T (p.Lys917Ter)
c.*2391A>T (n.*2391A>T)
n.2774A>T
c.205A>T (p.Lys69Ter)
c.2671A>T (p.Lys891Ter)
c.655+2686A>T (n.655+2686A>T)
c.1168-585A>T (n.1168-585A>T)
c.2602A>T (p.Lys868Ter)
c.2665A>T (p.Lys889Ter)
c.2653A>T (p.Lys885Ter)
COSMIC
2g.144398513T>CCA348707466ZEB2c.*2523A>G (n.*2523A>G)
c.1897A>G (p.Lys633Glu)
c.2674A>G (p.Lys892Glu)
n.2643A>G
c.2338A>G (p.Lys780Glu)
c.2749A>G (p.Lys917Glu)
c.*2391A>G (n.*2391A>G)
n.2774A>G
c.205A>G (p.Lys69Glu)
c.2671A>G (p.Lys891Glu)
c.655+2686A>G (n.655+2686A>G)
c.1168-585A>G (n.1168-585A>G)
c.2602A>G (p.Lys868Glu)
c.2665A>G (p.Lys889Glu)
c.2653A>G (p.Lys885Glu)
2g.144398513T>GCA348707468ZEB2c.*2523A>C (n.*2523A>C)
c.1897A>C (p.Lys633Gln)
c.2674A>C (p.Lys892Gln)
n.2643A>C
c.2338A>C (p.Lys780Gln)
c.2749A>C (p.Lys917Gln)
c.*2391A>C (n.*2391A>C)
n.2774A>C
c.205A>C (p.Lys69Gln)
c.2671A>C (p.Lys891Gln)
c.655+2686A>C (n.655+2686A>C)
c.1168-585A>C (n.1168-585A>C)
c.2602A>C (p.Lys868Gln)
c.2665A>C (p.Lys889Gln)
c.2653A>C (p.Lys885Gln)
2g.144398514G>ACA429445046ZEB2c.*2522C>T (n.*2522C>T)
c.1896C>T (p.Ala632=)
c.2673C>T (p.Ala891=)
n.2642C>T
c.2337C>T (p.Ala779=)
c.2748C>T (p.Ala916=)
c.*2390C>T (n.*2390C>T)
n.2773C>T
c.204C>T (p.Ala68=)
c.2670C>T (p.Ala890=)
c.655+2685C>T (n.655+2685C>T)
c.1168-586C>T (n.1168-586C>T)
c.2601C>T (p.Ala867=)
c.2664C>T (p.Ala888=)
c.2652C>T (p.Ala884=)
2g.144398514G>CCA429445044ZEB2c.*2522C>G (n.*2522C>G)
c.1896C>G (p.Ala632=)
c.2673C>G (p.Ala891=)
n.2642C>G
c.2337C>G (p.Ala779=)
c.2748C>G (p.Ala916=)
c.*2390C>G (n.*2390C>G)
n.2773C>G
c.204C>G (p.Ala68=)
c.2670C>G (p.Ala890=)
c.655+2685C>G (n.655+2685C>G)
c.1168-586C>G (n.1168-586C>G)
c.2601C>G (p.Ala867=)
c.2664C>G (p.Ala888=)
c.2652C>G (p.Ala884=)
2g.144398514G>TCA429445045ZEB2c.*2522C>A (n.*2522C>A)
c.1896C>A (p.Ala632=)
c.2673C>A (p.Ala891=)
n.2642C>A
c.2337C>A (p.Ala779=)
c.2748C>A (p.Ala916=)
c.*2390C>A (n.*2390C>A)
n.2773C>A
c.204C>A (p.Ala68=)
c.2670C>A (p.Ala890=)
c.655+2685C>A (n.655+2685C>A)
c.1168-586C>A (n.1168-586C>A)
c.2601C>A (p.Ala867=)
c.2664C>A (p.Ala888=)
c.2652C>A (p.Ala884=)
2g.144398515G>ACA57554852ZEB2c.*2521C>T (n.*2521C>T)
c.1895C>T (p.Ala632Val)
c.2672C>T (p.Ala891Val)
n.2641C>T
c.2336C>T (p.Ala779Val)
c.2747C>T (p.Ala916Val)
c.*2389C>T (n.*2389C>T)
n.2772C>T
c.203C>T (p.Ala68Val)
c.2669C>T (p.Ala890Val)
c.655+2684C>T (n.655+2684C>T)
c.1168-587C>T (n.1168-587C>T)
c.2600C>T (p.Ala867Val)
c.2663C>T (p.Ala888Val)
c.2651C>T (p.Ala884Val)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.144398515G>CCA348707472ZEB2c.*2521C>G (n.*2521C>G)
c.1895C>G (p.Ala632Gly)
c.2672C>G (p.Ala891Gly)
n.2641C>G
c.2336C>G (p.Ala779Gly)
c.2747C>G (p.Ala916Gly)
c.*2389C>G (n.*2389C>G)
n.2772C>G
c.203C>G (p.Ala68Gly)
c.2669C>G (p.Ala890Gly)
c.655+2684C>G (n.655+2684C>G)
c.1168-587C>G (n.1168-587C>G)
c.2600C>G (p.Ala867Gly)
c.2663C>G (p.Ala888Gly)
c.2651C>G (p.Ala884Gly)
ClinVar dbSNP gnomAD v4
2g.144398515G=CA1294884926ZEB2c.*2521C= (n.*2521C=)
c.1895C= (p.Ala632=)
c.2672C= (p.Ala891=)
n.2641C=
c.2336C= (p.Ala779=)
c.2747C= (p.Ala916=)
c.*2389C= (n.*2389C=)
n.2772C=
c.203C= (p.Ala68=)
c.2669C= (p.Ala890=)
c.655+2684C= (n.655+2684C=)
c.1168-587C= (n.1168-587C=)
c.2600C= (p.Ala867=)
c.2663C= (p.Ala888=)
c.2651C= (p.Ala884=)
2g.144398515G>TCA348707474ZEB2c.*2521C>A (n.*2521C>A)
c.1895C>A (p.Ala632Asp)
c.2672C>A (p.Ala891Asp)
n.2641C>A
c.2336C>A (p.Ala779Asp)
c.2747C>A (p.Ala916Asp)
c.*2389C>A (n.*2389C>A)
n.2772C>A
c.203C>A (p.Ala68Asp)
c.2669C>A (p.Ala890Asp)
c.655+2684C>A (n.655+2684C>A)
c.1168-587C>A (n.1168-587C>A)
c.2600C>A (p.Ala867Asp)
c.2663C>A (p.Ala888Asp)
c.2651C>A (p.Ala884Asp)
2g.144398516C>ACA348707479ZEB2c.*2520G>T (n.*2520G>T)
c.1894G>T (p.Ala632Ser)
c.2671G>T (p.Ala891Ser)
n.2640G>T
c.2335G>T (p.Ala779Ser)
c.2746G>T (p.Ala916Ser)
c.*2388G>T (n.*2388G>T)
n.2771G>T
c.202G>T (p.Ala68Ser)
c.2668G>T (p.Ala890Ser)
c.655+2683G>T (n.655+2683G>T)
c.1168-588G>T (n.1168-588G>T)
c.2599G>T (p.Ala867Ser)
c.2662G>T (p.Ala888Ser)
c.2650G>T (p.Ala884Ser)
2g.144398516C>GCA348707480ZEB2c.*2520G>C (n.*2520G>C)
c.1894G>C (p.Ala632Pro)
c.2671G>C (p.Ala891Pro)
n.2640G>C
c.2335G>C (p.Ala779Pro)
c.2746G>C (p.Ala916Pro)
c.*2388G>C (n.*2388G>C)
n.2771G>C
c.202G>C (p.Ala68Pro)
c.2668G>C (p.Ala890Pro)
c.655+2683G>C (n.655+2683G>C)
c.1168-588G>C (n.1168-588G>C)
c.2599G>C (p.Ala867Pro)
c.2662G>C (p.Ala888Pro)
c.2650G>C (p.Ala884Pro)
2g.144398516C>TCA348707483ZEB2c.*2520G>A (n.*2520G>A)
c.1894G>A (p.Ala632Thr)
c.2671G>A (p.Ala891Thr)
n.2640G>A
c.2335G>A (p.Ala779Thr)
c.2746G>A (p.Ala916Thr)
c.*2388G>A (n.*2388G>A)
n.2771G>A
c.202G>A (p.Ala68Thr)
c.2668G>A (p.Ala890Thr)
c.655+2683G>A (n.655+2683G>A)
c.1168-588G>A (n.1168-588G>A)
c.2599G>A (p.Ala867Thr)
c.2662G>A (p.Ala888Thr)
c.2650G>A (p.Ala884Thr)
2g.144398517A>CCA348707486ZEB2c.*2519T>G (n.*2519T>G)
c.1893T>G (p.Ser631Arg)
c.2670T>G (p.Ser890Arg)
n.2639T>G
c.2334T>G (p.Ser778Arg)
c.2745T>G (p.Ser915Arg)
c.*2387T>G (n.*2387T>G)
n.2770T>G
c.201T>G (p.Ser67Arg)
c.2667T>G (p.Ser889Arg)
c.655+2682T>G (n.655+2682T>G)
c.1168-589T>G (n.1168-589T>G)
c.2598T>G (p.Ser866Arg)
c.2661T>G (p.Ser887Arg)
c.2649T>G (p.Ser883Arg)
2g.144398517A>GCA429445050ZEB2c.*2519T>C (n.*2519T>C)
c.1893T>C (p.Ser631=)
c.2670T>C (p.Ser890=)
n.2639T>C
c.2334T>C (p.Ser778=)
c.2745T>C (p.Ser915=)
c.*2387T>C (n.*2387T>C)
n.2770T>C
c.201T>C (p.Ser67=)
c.2667T>C (p.Ser889=)
c.655+2682T>C (n.655+2682T>C)
c.1168-589T>C (n.1168-589T>C)
c.2598T>C (p.Ser866=)
c.2661T>C (p.Ser887=)
c.2649T>C (p.Ser883=)
2g.144398517A>TCA348707488ZEB2c.*2519T>A (n.*2519T>A)
c.1893T>A (p.Ser631Arg)
c.2670T>A (p.Ser890Arg)
n.2639T>A
c.2334T>A (p.Ser778Arg)
c.2745T>A (p.Ser915Arg)
c.*2387T>A (n.*2387T>A)
n.2770T>A
c.201T>A (p.Ser67Arg)
c.2667T>A (p.Ser889Arg)
c.655+2682T>A (n.655+2682T>A)
c.1168-589T>A (n.1168-589T>A)
c.2598T>A (p.Ser866Arg)
c.2661T>A (p.Ser887Arg)
c.2649T>A (p.Ser883Arg)
2g.144398518C>ACA348707491ZEB2c.*2518G>T (n.*2518G>T)
c.1892G>T (p.Ser631Ile)
c.2669G>T (p.Ser890Ile)
n.2638G>T
c.2333G>T (p.Ser778Ile)
c.2744G>T (p.Ser915Ile)
c.*2386G>T (n.*2386G>T)
n.2769G>T
c.200G>T (p.Ser67Ile)
c.2666G>T (p.Ser889Ile)
c.655+2681G>T (n.655+2681G>T)
c.1168-590G>T (n.1168-590G>T)
c.2597G>T (p.Ser866Ile)
c.2660G>T (p.Ser887Ile)
c.2648G>T (p.Ser883Ile)
2g.144398518C>GCA348707493ZEB2c.*2518G>C (n.*2518G>C)
c.1892G>C (p.Ser631Thr)
c.2669G>C (p.Ser890Thr)
n.2638G>C
c.2333G>C (p.Ser778Thr)
c.2744G>C (p.Ser915Thr)
c.*2386G>C (n.*2386G>C)
n.2769G>C
c.200G>C (p.Ser67Thr)
c.2666G>C (p.Ser889Thr)
c.655+2681G>C (n.655+2681G>C)
c.1168-590G>C (n.1168-590G>C)
c.2597G>C (p.Ser866Thr)
c.2660G>C (p.Ser887Thr)
c.2648G>C (p.Ser883Thr)
2g.144398518C>TCA348707494ZEB2c.*2518G>A (n.*2518G>A)
c.1892G>A (p.Ser631Asn)
c.2669G>A (p.Ser890Asn)
n.2638G>A
c.2333G>A (p.Ser778Asn)
c.2744G>A (p.Ser915Asn)
c.*2386G>A (n.*2386G>A)
n.2769G>A
c.200G>A (p.Ser67Asn)
c.2666G>A (p.Ser889Asn)
c.655+2681G>A (n.655+2681G>A)
c.1168-590G>A (n.1168-590G>A)
c.2597G>A (p.Ser866Asn)
c.2660G>A (p.Ser887Asn)
c.2648G>A (p.Ser883Asn)
2g.144398519T>ACA348707497ZEB2c.*2517A>T (n.*2517A>T)
c.1891A>T (p.Ser631Cys)
c.2668A>T (p.Ser890Cys)
n.2637A>T
c.2332A>T (p.Ser778Cys)
c.2743A>T (p.Ser915Cys)
c.*2385A>T (n.*2385A>T)
n.2768A>T
c.199A>T (p.Ser67Cys)
c.2665A>T (p.Ser889Cys)
c.655+2680A>T (n.655+2680A>T)
c.1168-591A>T (n.1168-591A>T)
c.2596A>T (p.Ser866Cys)
c.2659A>T (p.Ser887Cys)
c.2647A>T (p.Ser883Cys)
2g.144398519T>CCA348707499ZEB2c.*2517A>G (n.*2517A>G)
c.1891A>G (p.Ser631Gly)
c.2668A>G (p.Ser890Gly)
n.2637A>G
c.2332A>G (p.Ser778Gly)
c.2743A>G (p.Ser915Gly)
c.*2385A>G (n.*2385A>G)
n.2768A>G
c.199A>G (p.Ser67Gly)
c.2665A>G (p.Ser889Gly)
c.655+2680A>G (n.655+2680A>G)
c.1168-591A>G (n.1168-591A>G)
c.2596A>G (p.Ser866Gly)
c.2659A>G (p.Ser887Gly)
c.2647A>G (p.Ser883Gly)
2g.144398519T>GCA348707502ZEB2c.*2517A>C (n.*2517A>C)
c.1891A>C (p.Ser631Arg)
c.2668A>C (p.Ser890Arg)
n.2637A>C
c.2332A>C (p.Ser778Arg)
c.2743A>C (p.Ser915Arg)
c.*2385A>C (n.*2385A>C)
n.2768A>C
c.199A>C (p.Ser67Arg)
c.2665A>C (p.Ser889Arg)
c.655+2680A>C (n.655+2680A>C)
c.1168-591A>C (n.1168-591A>C)
c.2596A>C (p.Ser866Arg)
c.2659A>C (p.Ser887Arg)
c.2647A>C (p.Ser883Arg)
2g.144398520A>CCA348707505ZEB2c.*2516T>G (n.*2516T>G)
c.1890T>G (p.Phe630Leu)
c.2667T>G (p.Phe889Leu)
n.2636T>G
c.2331T>G (p.Phe777Leu)
c.2742T>G (p.Phe914Leu)
c.*2384T>G (n.*2384T>G)
n.2767T>G
c.198T>G (p.Phe66Leu)
c.2664T>G (p.Phe888Leu)
c.655+2679T>G (n.655+2679T>G)
c.1168-592T>G (n.1168-592T>G)
c.2595T>G (p.Phe865Leu)
c.2658T>G (p.Phe886Leu)
c.2646T>G (p.Phe882Leu)
2g.144398520A>GCA429445056ZEB2c.*2516T>C (n.*2516T>C)
c.1890T>C (p.Phe630=)
c.2667T>C (p.Phe889=)
n.2636T>C
c.2331T>C (p.Phe777=)
c.2742T>C (p.Phe914=)
c.*2384T>C (n.*2384T>C)
n.2767T>C
c.198T>C (p.Phe66=)
c.2664T>C (p.Phe888=)
c.655+2679T>C (n.655+2679T>C)
c.1168-592T>C (n.1168-592T>C)
c.2595T>C (p.Phe865=)
c.2658T>C (p.Phe886=)
c.2646T>C (p.Phe882=)
2g.144398520A>TCA348707507ZEB2c.*2516T>A (n.*2516T>A)
c.1890T>A (p.Phe630Leu)
c.2667T>A (p.Phe889Leu)
n.2636T>A
c.2331T>A (p.Phe777Leu)
c.2742T>A (p.Phe914Leu)
c.*2384T>A (n.*2384T>A)
n.2767T>A
c.198T>A (p.Phe66Leu)
c.2664T>A (p.Phe888Leu)
c.655+2679T>A (n.655+2679T>A)
c.1168-592T>A (n.1168-592T>A)
c.2595T>A (p.Phe865Leu)
c.2658T>A (p.Phe886Leu)
c.2646T>A (p.Phe882Leu)
2g.144398521A>CCA348707510ZEB2c.*2515T>G (n.*2515T>G)
c.1889T>G (p.Phe630Cys)
c.2666T>G (p.Phe889Cys)
n.2635T>G
c.2330T>G (p.Phe777Cys)
c.2741T>G (p.Phe914Cys)
c.*2383T>G (n.*2383T>G)
n.2766T>G
c.197T>G (p.Phe66Cys)
c.2663T>G (p.Phe888Cys)
c.655+2678T>G (n.655+2678T>G)
c.1168-593T>G (n.1168-593T>G)
c.2594T>G (p.Phe865Cys)
c.2657T>G (p.Phe886Cys)
c.2645T>G (p.Phe882Cys)
2g.144398521A>GCA348707512ZEB2c.*2515T>C (n.*2515T>C)
c.1889T>C (p.Phe630Ser)
c.2666T>C (p.Phe889Ser)
n.2635T>C
c.2330T>C (p.Phe777Ser)
c.2741T>C (p.Phe914Ser)
c.*2383T>C (n.*2383T>C)
n.2766T>C
c.197T>C (p.Phe66Ser)
c.2663T>C (p.Phe888Ser)
c.655+2678T>C (n.655+2678T>C)
c.1168-593T>C (n.1168-593T>C)
c.2594T>C (p.Phe865Ser)
c.2657T>C (p.Phe886Ser)
c.2645T>C (p.Phe882Ser)
2g.144398521A>TCA348707514ZEB2c.*2515T>A (n.*2515T>A)
c.1889T>A (p.Phe630Tyr)
c.2666T>A (p.Phe889Tyr)
n.2635T>A
c.2330T>A (p.Phe777Tyr)
c.2741T>A (p.Phe914Tyr)
c.*2383T>A (n.*2383T>A)
n.2766T>A
c.197T>A (p.Phe66Tyr)
c.2663T>A (p.Phe888Tyr)
c.655+2678T>A (n.655+2678T>A)
c.1168-593T>A (n.1168-593T>A)
c.2594T>A (p.Phe865Tyr)
c.2657T>A (p.Phe886Tyr)
c.2645T>A (p.Phe882Tyr)
2g.144398522A=CA1294884927ZEB2c.*2514T= (n.*2514T=)
c.1888T= (p.Phe630=)
c.2665T= (p.Phe889=)
n.2634T=
c.2329T= (p.Phe777=)
c.2740T= (p.Phe914=)
c.*2382T= (n.*2382T=)
n.2765T=
c.196T= (p.Phe66=)
c.2662T= (p.Phe888=)
c.655+2677T= (n.655+2677T=)
c.1168-594T= (n.1168-594T=)
c.2593T= (p.Phe865=)
c.2656T= (p.Phe886=)
c.2644T= (p.Phe882=)
2g.144398522A>CCA348707517ZEB2c.*2514T>G (n.*2514T>G)
c.1888T>G (p.Phe630Val)
c.2665T>G (p.Phe889Val)
n.2634T>G
c.2329T>G (p.Phe777Val)
c.2740T>G (p.Phe914Val)
c.*2382T>G (n.*2382T>G)
n.2765T>G
c.196T>G (p.Phe66Val)
c.2662T>G (p.Phe888Val)
c.655+2677T>G (n.655+2677T>G)
c.1168-594T>G (n.1168-594T>G)
c.2593T>G (p.Phe865Val)
c.2656T>G (p.Phe886Val)
c.2644T>G (p.Phe882Val)
2g.144398522A>GCA57554856ZEB2c.*2514T>C (n.*2514T>C)
c.1888T>C (p.Phe630Leu)
c.2665T>C (p.Phe889Leu)
n.2634T>C
c.2329T>C (p.Phe777Leu)
c.2740T>C (p.Phe914Leu)
c.*2382T>C (n.*2382T>C)
n.2765T>C
c.196T>C (p.Phe66Leu)
c.2662T>C (p.Phe888Leu)
c.655+2677T>C (n.655+2677T>C)
c.1168-594T>C (n.1168-594T>C)
c.2593T>C (p.Phe865Leu)
c.2656T>C (p.Phe886Leu)
c.2644T>C (p.Phe882Leu)
ClinVar dbSNP gnomAD v4
2g.144398522A>TCA348707520ZEB2c.*2514T>A (n.*2514T>A)
c.1888T>A (p.Phe630Ile)
c.2665T>A (p.Phe889Ile)
n.2634T>A
c.2329T>A (p.Phe777Ile)
c.2740T>A (p.Phe914Ile)
c.*2382T>A (n.*2382T>A)
n.2765T>A
c.196T>A (p.Phe66Ile)
c.2662T>A (p.Phe888Ile)
c.655+2677T>A (n.655+2677T>A)
c.1168-594T>A (n.1168-594T>A)
c.2593T>A (p.Phe865Ile)
c.2656T>A (p.Phe886Ile)
c.2644T>A (p.Phe882Ile)
2g.144398523T>ACA429445060ZEB2c.*2513A>T (n.*2513A>T)
c.1887A>T (p.Pro629=)
c.2664A>T (p.Pro888=)
n.2633A>T
c.2328A>T (p.Pro776=)
c.2739A>T (p.Pro913=)
c.*2381A>T (n.*2381A>T)
n.2764A>T
c.195A>T (p.Pro65=)
c.2661A>T (p.Pro887=)
c.655+2676A>T (n.655+2676A>T)
c.1168-595A>T (n.1168-595A>T)
c.2592A>T (p.Pro864=)
c.2655A>T (p.Pro885=)
c.2643A>T (p.Pro881=)
2g.144398523T>CCA429445063ZEB2c.*2513A>G (n.*2513A>G)
c.1887A>G (p.Pro629=)
c.2664A>G (p.Pro888=)
n.2633A>G
c.2328A>G (p.Pro776=)
c.2739A>G (p.Pro913=)
c.*2381A>G (n.*2381A>G)
n.2764A>G
c.195A>G (p.Pro65=)
c.2661A>G (p.Pro887=)
c.655+2676A>G (n.655+2676A>G)
c.1168-595A>G (n.1168-595A>G)
c.2592A>G (p.Pro864=)
c.2655A>G (p.Pro885=)
c.2643A>G (p.Pro881=)
gnomAD v4
2g.144398523T>GCA429445062ZEB2c.*2513A>C (n.*2513A>C)
c.1887A>C (p.Pro629=)
c.2664A>C (p.Pro888=)
n.2633A>C
c.2328A>C (p.Pro776=)
c.2739A>C (p.Pro913=)
c.*2381A>C (n.*2381A>C)
n.2764A>C
c.195A>C (p.Pro65=)
c.2661A>C (p.Pro887=)
c.655+2676A>C (n.655+2676A>C)
c.1168-595A>C (n.1168-595A>C)
c.2592A>C (p.Pro864=)
c.2655A>C (p.Pro885=)
c.2643A>C (p.Pro881=)
2g.144398524G>ACA348707524ZEB2c.*2512C>T (n.*2512C>T)
c.1886C>T (p.Pro629Leu)
c.2663C>T (p.Pro888Leu)
n.2632C>T
c.2327C>T (p.Pro776Leu)
c.2738C>T (p.Pro913Leu)
c.*2380C>T (n.*2380C>T)
n.2763C>T
c.194C>T (p.Pro65Leu)
c.2660C>T (p.Pro887Leu)
c.655+2675C>T (n.655+2675C>T)
c.1168-596C>T (n.1168-596C>T)
c.2591C>T (p.Pro864Leu)
c.2654C>T (p.Pro885Leu)
c.2642C>T (p.Pro881Leu)
2g.144398524G>CCA348707527ZEB2c.*2512C>G (n.*2512C>G)
c.1886C>G (p.Pro629Arg)
c.2663C>G (p.Pro888Arg)
n.2632C>G
c.2327C>G (p.Pro776Arg)
c.2738C>G (p.Pro913Arg)
c.*2380C>G (n.*2380C>G)
n.2763C>G
c.194C>G (p.Pro65Arg)
c.2660C>G (p.Pro887Arg)
c.655+2675C>G (n.655+2675C>G)
c.1168-596C>G (n.1168-596C>G)
c.2591C>G (p.Pro864Arg)
c.2654C>G (p.Pro885Arg)
c.2642C>G (p.Pro881Arg)
2g.144398524G>TCA348707522ZEB2c.*2512C>A (n.*2512C>A)
c.1886C>A (p.Pro629Gln)
c.2663C>A (p.Pro888Gln)
n.2632C>A
c.2327C>A (p.Pro776Gln)
c.2738C>A (p.Pro913Gln)
c.*2380C>A (n.*2380C>A)
n.2763C>A
c.194C>A (p.Pro65Gln)
c.2660C>A (p.Pro887Gln)
c.655+2675C>A (n.655+2675C>A)
c.1168-596C>A (n.1168-596C>A)
c.2591C>A (p.Pro864Gln)
c.2654C>A (p.Pro885Gln)
c.2642C>A (p.Pro881Gln)
2g.144398526delCA2586970081ZEB2c.*2512del (n.*2512del)
c.1886del (p.Pro629HisfsTer?)
c.2663del (p.Pro888HisfsTer?)
n.2632del
c.2327del (p.Pro776HisfsTer?)
c.2738del (p.Pro913HisfsTer?)
c.*2380del (n.*2380del)
n.2763del
c.194del (p.Pro65HisfsTer?)
c.2660del (p.Pro887HisfsTer?)
c.655+2675del (n.655+2675del)
c.1168-596del (n.1168-596del)
c.2591del (p.Pro864HisfsTer?)
c.2654del (p.Pro885HisfsTer?)
c.2642del (p.Pro881HisfsTer?)
2g.144398525G>ACA348707530ZEB2c.*2511C>T (n.*2511C>T)
c.1885C>T (p.Pro629Ser)
c.2662C>T (p.Pro888Ser)
n.2631C>T
c.2326C>T (p.Pro776Ser)
c.2737C>T (p.Pro913Ser)
c.*2379C>T (n.*2379C>T)
n.2762C>T
c.193C>T (p.Pro65Ser)
c.2659C>T (p.Pro887Ser)
c.655+2674C>T (n.655+2674C>T)
c.1168-597C>T (n.1168-597C>T)
c.2590C>T (p.Pro864Ser)
c.2653C>T (p.Pro885Ser)
c.2641C>T (p.Pro881Ser)
gnomAD v4
2g.144398525G>CCA348707534ZEB2c.*2511C>G (n.*2511C>G)
c.1885C>G (p.Pro629Ala)
c.2662C>G (p.Pro888Ala)
n.2631C>G
c.2326C>G (p.Pro776Ala)
c.2737C>G (p.Pro913Ala)
c.*2379C>G (n.*2379C>G)
n.2762C>G
c.193C>G (p.Pro65Ala)
c.2659C>G (p.Pro887Ala)
c.655+2674C>G (n.655+2674C>G)
c.1168-597C>G (n.1168-597C>G)
c.2590C>G (p.Pro864Ala)
c.2653C>G (p.Pro885Ala)
c.2641C>G (p.Pro881Ala)
2g.144398525G>TCA348707531ZEB2c.*2511C>A (n.*2511C>A)
c.1885C>A (p.Pro629Thr)
c.2662C>A (p.Pro888Thr)
n.2631C>A
c.2326C>A (p.Pro776Thr)
c.2737C>A (p.Pro913Thr)
c.*2379C>A (n.*2379C>A)
n.2762C>A
c.193C>A (p.Pro65Thr)
c.2659C>A (p.Pro887Thr)
c.655+2674C>A (n.655+2674C>A)
c.1168-597C>A (n.1168-597C>A)
c.2590C>A (p.Pro864Thr)
c.2653C>A (p.Pro885Thr)
c.2641C>A (p.Pro881Thr)
2g.144398526G>ACA429445068ZEB2c.*2510C>T (n.*2510C>T)
c.1884C>T (p.Asn628=)
c.2661C>T (p.Asn887=)
n.2630C>T
c.2325C>T (p.Asn775=)
c.2736C>T (p.Asn912=)
c.*2378C>T (n.*2378C>T)
n.2761C>T
c.192C>T (p.Asn64=)
c.2658C>T (p.Asn886=)
c.655+2673C>T (n.655+2673C>T)
c.1168-598C>T (n.1168-598C>T)
c.2589C>T (p.Asn863=)
c.2652C>T (p.Asn884=)
c.2640C>T (p.Asn880=)
gnomAD v4
2g.144398526G>CCA348707538ZEB2c.*2510C>G (n.*2510C>G)
c.1884C>G (p.Asn628Lys)
c.2661C>G (p.Asn887Lys)
n.2630C>G
c.2325C>G (p.Asn775Lys)
c.2736C>G (p.Asn912Lys)
c.*2378C>G (n.*2378C>G)
n.2761C>G
c.192C>G (p.Asn64Lys)
c.2658C>G (p.Asn886Lys)
c.655+2673C>G (n.655+2673C>G)
c.1168-598C>G (n.1168-598C>G)
c.2589C>G (p.Asn863Lys)
c.2652C>G (p.Asn884Lys)
c.2640C>G (p.Asn880Lys)
2g.144398526G>TCA348707539ZEB2c.*2510C>A (n.*2510C>A)
c.1884C>A (p.Asn628Lys)
c.2661C>A (p.Asn887Lys)
n.2630C>A
c.2325C>A (p.Asn775Lys)
c.2736C>A (p.Asn912Lys)
c.*2378C>A (n.*2378C>A)
n.2761C>A
c.192C>A (p.Asn64Lys)
c.2658C>A (p.Asn886Lys)
c.655+2673C>A (n.655+2673C>A)
c.1168-598C>A (n.1168-598C>A)
c.2589C>A (p.Asn863Lys)
c.2652C>A (p.Asn884Lys)
c.2640C>A (p.Asn880Lys)
2g.144398527T>ACA348707542ZEB2c.*2509A>T (n.*2509A>T)
c.1883A>T (p.Asn628Ile)
c.2660A>T (p.Asn887Ile)
n.2629A>T
c.2324A>T (p.Asn775Ile)
c.2735A>T (p.Asn912Ile)
c.*2377A>T (n.*2377A>T)
n.2760A>T
c.191A>T (p.Asn64Ile)
c.2657A>T (p.Asn886Ile)
c.655+2672A>T (n.655+2672A>T)
c.1168-599A>T (n.1168-599A>T)
c.2588A>T (p.Asn863Ile)
c.2651A>T (p.Asn884Ile)
c.2639A>T (p.Asn880Ile)
2g.144398527T>CCA348707545ZEB2c.*2509A>G (n.*2509A>G)
c.1883A>G (p.Asn628Ser)
c.2660A>G (p.Asn887Ser)
n.2629A>G
c.2324A>G (p.Asn775Ser)
c.2735A>G (p.Asn912Ser)
c.*2377A>G (n.*2377A>G)
n.2760A>G
c.191A>G (p.Asn64Ser)
c.2657A>G (p.Asn886Ser)
c.655+2672A>G (n.655+2672A>G)
c.1168-599A>G (n.1168-599A>G)
c.2588A>G (p.Asn863Ser)
c.2651A>G (p.Asn884Ser)
c.2639A>G (p.Asn880Ser)
2g.144398527T>GCA348707547ZEB2c.*2509A>C (n.*2509A>C)
c.1883A>C (p.Asn628Thr)
c.2660A>C (p.Asn887Thr)
n.2629A>C
c.2324A>C (p.Asn775Thr)
c.2735A>C (p.Asn912Thr)
c.*2377A>C (n.*2377A>C)
n.2760A>C
c.191A>C (p.Asn64Thr)
c.2657A>C (p.Asn886Thr)
c.655+2672A>C (n.655+2672A>C)
c.1168-599A>C (n.1168-599A>C)
c.2588A>C (p.Asn863Thr)
c.2651A>C (p.Asn884Thr)
c.2639A>C (p.Asn880Thr)
2g.144398528T>ACA348707554ZEB2c.*2508A>T (n.*2508A>T)
c.1882A>T (p.Asn628Tyr)
c.2659A>T (p.Asn887Tyr)
n.2628A>T
c.2323A>T (p.Asn775Tyr)
c.2734A>T (p.Asn912Tyr)
c.*2376A>T (n.*2376A>T)
n.2759A>T
c.190A>T (p.Asn64Tyr)
c.2656A>T (p.Asn886Tyr)
c.655+2671A>T (n.655+2671A>T)
c.1168-600A>T (n.1168-600A>T)
c.2587A>T (p.Asn863Tyr)
c.2650A>T (p.Asn884Tyr)
c.2638A>T (p.Asn880Tyr)
2g.144398528T>CCA348707552ZEB2c.*2508A>G (n.*2508A>G)
c.1882A>G (p.Asn628Asp)
c.2659A>G (p.Asn887Asp)
n.2628A>G
c.2323A>G (p.Asn775Asp)
c.2734A>G (p.Asn912Asp)
c.*2376A>G (n.*2376A>G)
n.2759A>G
c.190A>G (p.Asn64Asp)
c.2656A>G (p.Asn886Asp)
c.655+2671A>G (n.655+2671A>G)
c.1168-600A>G (n.1168-600A>G)
c.2587A>G (p.Asn863Asp)
c.2650A>G (p.Asn884Asp)
c.2638A>G (p.Asn880Asp)
2g.144398528T>GCA348707550ZEB2c.*2508A>C (n.*2508A>C)
c.1882A>C (p.Asn628His)
c.2659A>C (p.Asn887His)
n.2628A>C
c.2323A>C (p.Asn775His)
c.2734A>C (p.Asn912His)
c.*2376A>C (n.*2376A>C)
n.2759A>C
c.190A>C (p.Asn64His)
c.2656A>C (p.Asn886His)
c.655+2671A>C (n.655+2671A>C)
c.1168-600A>C (n.1168-600A>C)
c.2587A>C (p.Asn863His)
c.2650A>C (p.Asn884His)
c.2638A>C (p.Asn880His)
2g.144398529C>ACA348707557ZEB2c.*2507G>T (n.*2507G>T)
c.1881G>T (p.Met627Ile)
c.2658G>T (p.Met886Ile)
n.2627G>T
c.2322G>T (p.Met774Ile)
c.2733G>T (p.Met911Ile)
c.*2375G>T (n.*2375G>T)
n.2758G>T
c.189G>T (p.Met63Ile)
c.2655G>T (p.Met885Ile)
c.655+2670G>T (n.655+2670G>T)
c.1168-601G>T (n.1168-601G>T)
c.2586G>T (p.Met862Ile)
c.2649G>T (p.Met883Ile)
c.2637G>T (p.Met879Ile)
gnomAD v4
2g.144398529C>GCA348707559ZEB2c.*2507G>C (n.*2507G>C)
c.1881G>C (p.Met627Ile)
c.2658G>C (p.Met886Ile)
n.2627G>C
c.2322G>C (p.Met774Ile)
c.2733G>C (p.Met911Ile)
c.*2375G>C (n.*2375G>C)
n.2758G>C
c.189G>C (p.Met63Ile)
c.2655G>C (p.Met885Ile)
c.655+2670G>C (n.655+2670G>C)
c.1168-601G>C (n.1168-601G>C)
c.2586G>C (p.Met862Ile)
c.2649G>C (p.Met883Ile)
c.2637G>C (p.Met879Ile)
2g.144398529C>TCA348707561ZEB2c.*2507G>A (n.*2507G>A)
c.1881G>A (p.Met627Ile)
c.2658G>A (p.Met886Ile)
n.2627G>A
c.2322G>A (p.Met774Ile)
c.2733G>A (p.Met911Ile)
c.*2375G>A (n.*2375G>A)
n.2758G>A
c.189G>A (p.Met63Ile)
c.2655G>A (p.Met885Ile)
c.655+2670G>A (n.655+2670G>A)
c.1168-601G>A (n.1168-601G>A)
c.2586G>A (p.Met862Ile)
c.2649G>A (p.Met883Ile)
c.2637G>A (p.Met879Ile)
gnomAD v4
2g.144398530A=CA1294884928ZEB2c.*2506T= (n.*2506T=)
c.1880T= (p.Met627=)
c.2657T= (p.Met886=)
n.2626T=
c.2321T= (p.Met774=)
c.2732T= (p.Met911=)
c.*2374T= (n.*2374T=)
n.2757T=
c.188T= (p.Met63=)
c.2654T= (p.Met885=)
c.655+2669T= (n.655+2669T=)
c.1168-602T= (n.1168-602T=)
c.2585T= (p.Met862=)
c.2648T= (p.Met883=)
c.2636T= (p.Met879=)
2g.144398530A>CCA348707563ZEB2c.*2506T>G (n.*2506T>G)
c.1880T>G (p.Met627Arg)
c.2657T>G (p.Met886Arg)
n.2626T>G
c.2321T>G (p.Met774Arg)
c.2732T>G (p.Met911Arg)
c.*2374T>G (n.*2374T>G)
n.2757T>G
c.188T>G (p.Met63Arg)
c.2654T>G (p.Met885Arg)
c.655+2669T>G (n.655+2669T>G)
c.1168-602T>G (n.1168-602T>G)
c.2585T>G (p.Met862Arg)
c.2648T>G (p.Met883Arg)
c.2636T>G (p.Met879Arg)
2g.144398530A>GCA57554861ZEB2c.*2506T>C (n.*2506T>C)
c.1880T>C (p.Met627Thr)
c.2657T>C (p.Met886Thr)
n.2626T>C
c.2321T>C (p.Met774Thr)
c.2732T>C (p.Met911Thr)
c.*2374T>C (n.*2374T>C)
n.2757T>C
c.188T>C (p.Met63Thr)
c.2654T>C (p.Met885Thr)
c.655+2669T>C (n.655+2669T>C)
c.1168-602T>C (n.1168-602T>C)
c.2585T>C (p.Met862Thr)
c.2648T>C (p.Met883Thr)
c.2636T>C (p.Met879Thr)
dbSNP gnomAD v4
2g.144398530A>TCA348707567ZEB2c.*2506T>A (n.*2506T>A)
c.1880T>A (p.Met627Lys)
c.2657T>A (p.Met886Lys)
n.2626T>A
c.2321T>A (p.Met774Lys)
c.2732T>A (p.Met911Lys)
c.*2374T>A (n.*2374T>A)
n.2757T>A
c.188T>A (p.Met63Lys)
c.2654T>A (p.Met885Lys)
c.655+2669T>A (n.655+2669T>A)
c.1168-602T>A (n.1168-602T>A)
c.2585T>A (p.Met862Lys)
c.2648T>A (p.Met883Lys)
c.2636T>A (p.Met879Lys)
COSMIC
2g.144398531T>ACA348707575ZEB2c.*2505A>T (n.*2505A>T)
c.1879A>T (p.Met627Leu)
c.2656A>T (p.Met886Leu)
n.2625A>T
c.2320A>T (p.Met774Leu)
c.2731A>T (p.Met911Leu)
c.*2373A>T (n.*2373A>T)
n.2756A>T
c.187A>T (p.Met63Leu)
c.2653A>T (p.Met885Leu)
c.655+2668A>T (n.655+2668A>T)
c.1168-603A>T (n.1168-603A>T)
c.2584A>T (p.Met862Leu)
c.2647A>T (p.Met883Leu)
c.2635A>T (p.Met879Leu)
2g.144398531T>CCA348707571ZEB2c.*2505A>G (n.*2505A>G)
c.1879A>G (p.Met627Val)
c.2656A>G (p.Met886Val)
n.2625A>G
c.2320A>G (p.Met774Val)
c.2731A>G (p.Met911Val)
c.*2373A>G (n.*2373A>G)
n.2756A>G
c.187A>G (p.Met63Val)
c.2653A>G (p.Met885Val)
c.655+2668A>G (n.655+2668A>G)
c.1168-603A>G (n.1168-603A>G)
c.2584A>G (p.Met862Val)
c.2647A>G (p.Met883Val)
c.2635A>G (p.Met879Val)
2g.144398531T>GCA57554865ZEB2c.*2505A>C (n.*2505A>C)
c.1879A>C (p.Met627Leu)
c.2656A>C (p.Met886Leu)
n.2625A>C
c.2320A>C (p.Met774Leu)
c.2731A>C (p.Met911Leu)
c.*2373A>C (n.*2373A>C)
n.2756A>C
c.187A>C (p.Met63Leu)
c.2653A>C (p.Met885Leu)
c.655+2668A>C (n.655+2668A>C)
c.1168-603A>C (n.1168-603A>C)
c.2584A>C (p.Met862Leu)
c.2647A>C (p.Met883Leu)
c.2635A>C (p.Met879Leu)
dbSNP gnomAD v4
2g.144398531T=CA1294884929ZEB2c.*2505A= (n.*2505A=)
c.1879A= (p.Met627=)
c.2656A= (p.Met886=)
n.2625A=
c.2320A= (p.Met774=)
c.2731A= (p.Met911=)
c.*2373A= (n.*2373A=)
n.2756A=
c.187A= (p.Met63=)
c.2653A= (p.Met885=)
c.655+2668A= (n.655+2668A=)
c.1168-603A= (n.1168-603A=)
c.2584A= (p.Met862=)
c.2647A= (p.Met883=)
c.2635A= (p.Met879=)
2g.144398532G>ACA429445098ZEB2c.*2504C>T (n.*2504C>T)
c.1878C>T (p.Ser626=)
c.2655C>T (p.Ser885=)
n.2624C>T
c.2319C>T (p.Ser773=)
c.2730C>T (p.Ser910=)
c.*2372C>T (n.*2372C>T)
n.2755C>T
c.186C>T (p.Ser62=)
c.2652C>T (p.Ser884=)
c.655+2667C>T (n.655+2667C>T)
c.1168-604C>T (n.1168-604C>T)
c.2583C>T (p.Ser861=)
c.2646C>T (p.Ser882=)
c.2634C>T (p.Ser878=)
ClinVar gnomAD v4
2g.144398532G>CCA1898222ZEB2c.*2504C>G (n.*2504C>G)
c.1878C>G (p.Ser626Arg)
c.2655C>G (p.Ser885Arg)
n.2624C>G
c.2319C>G (p.Ser773Arg)
c.2730C>G (p.Ser910Arg)
c.*2372C>G (n.*2372C>G)
n.2755C>G
c.186C>G (p.Ser62Arg)
c.2652C>G (p.Ser884Arg)
c.655+2667C>G (n.655+2667C>G)
c.1168-604C>G (n.1168-604C>G)
c.2583C>G (p.Ser861Arg)
c.2646C>G (p.Ser882Arg)
c.2634C>G (p.Ser878Arg)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.144398532G=CA1294884930ZEB2c.*2504C= (n.*2504C=)
c.1878C= (p.Ser626=)
c.2655C= (p.Ser885=)
n.2624C=
c.2319C= (p.Ser773=)
c.2730C= (p.Ser910=)
c.*2372C= (n.*2372C=)
n.2755C=
c.186C= (p.Ser62=)
c.2652C= (p.Ser884=)
c.655+2667C= (n.655+2667C=)
c.1168-604C= (n.1168-604C=)
c.2583C= (p.Ser861=)
c.2646C= (p.Ser882=)
c.2634C= (p.Ser878=)
2g.144398532G>TCA348707578ZEB2c.*2504C>A (n.*2504C>A)
c.1878C>A (p.Ser626Arg)
c.2655C>A (p.Ser885Arg)
n.2624C>A
c.2319C>A (p.Ser773Arg)
c.2730C>A (p.Ser910Arg)
c.*2372C>A (n.*2372C>A)
n.2755C>A
c.186C>A (p.Ser62Arg)
c.2652C>A (p.Ser884Arg)
c.655+2667C>A (n.655+2667C>A)
c.1168-604C>A (n.1168-604C>A)
c.2583C>A (p.Ser861Arg)
c.2646C>A (p.Ser882Arg)
c.2634C>A (p.Ser878Arg)
COSMIC
2g.144398533C>ACA348707580ZEB2c.*2503G>T (n.*2503G>T)
c.1877G>T (p.Ser626Ile)
c.2654G>T (p.Ser885Ile)
n.2623G>T
c.2318G>T (p.Ser773Ile)
c.2729G>T (p.Ser910Ile)
c.*2371G>T (n.*2371G>T)
n.2754G>T
c.185G>T (p.Ser62Ile)
c.2651G>T (p.Ser884Ile)
c.655+2666G>T (n.655+2666G>T)
c.1168-605G>T (n.1168-605G>T)
c.2582G>T (p.Ser861Ile)
c.2645G>T (p.Ser882Ile)
c.2633G>T (p.Ser878Ile)
ClinVar
2g.144398533C>GCA348707582ZEB2c.*2503G>C (n.*2503G>C)
c.1877G>C (p.Ser626Thr)
c.2654G>C (p.Ser885Thr)
n.2623G>C
c.2318G>C (p.Ser773Thr)
c.2729G>C (p.Ser910Thr)
c.*2371G>C (n.*2371G>C)
n.2754G>C
c.185G>C (p.Ser62Thr)
c.2651G>C (p.Ser884Thr)
c.655+2666G>C (n.655+2666G>C)
c.1168-605G>C (n.1168-605G>C)
c.2582G>C (p.Ser861Thr)
c.2645G>C (p.Ser882Thr)
c.2633G>C (p.Ser878Thr)
2g.144398533C>TCA348707584ZEB2c.*2503G>A (n.*2503G>A)
c.1877G>A (p.Ser626Asn)
c.2654G>A (p.Ser885Asn)
n.2623G>A
c.2318G>A (p.Ser773Asn)
c.2729G>A (p.Ser910Asn)
c.*2371G>A (n.*2371G>A)
n.2754G>A
c.185G>A (p.Ser62Asn)
c.2651G>A (p.Ser884Asn)
c.655+2666G>A (n.655+2666G>A)
c.1168-605G>A (n.1168-605G>A)
c.2582G>A (p.Ser861Asn)
c.2645G>A (p.Ser882Asn)
c.2633G>A (p.Ser878Asn)
2g.144398534T>ACA348707586ZEB2c.*2502A>T (n.*2502A>T)
c.1876A>T (p.Ser626Cys)
c.2653A>T (p.Ser885Cys)
n.2622A>T
c.2317A>T (p.Ser773Cys)
c.2728A>T (p.Ser910Cys)
c.*2370A>T (n.*2370A>T)
n.2753A>T
c.184A>T (p.Ser62Cys)
c.2650A>T (p.Ser884Cys)
c.655+2665A>T (n.655+2665A>T)
c.1168-606A>T (n.1168-606A>T)
c.2581A>T (p.Ser861Cys)
c.2644A>T (p.Ser882Cys)
c.2632A>T (p.Ser878Cys)
2g.144398534T>CCA348707588ZEB2c.*2502A>G (n.*2502A>G)
c.1876A>G (p.Ser626Gly)
c.2653A>G (p.Ser885Gly)
n.2622A>G
c.2317A>G (p.Ser773Gly)
c.2728A>G (p.Ser910Gly)
c.*2370A>G (n.*2370A>G)
n.2753A>G
c.184A>G (p.Ser62Gly)
c.2650A>G (p.Ser884Gly)
c.655+2665A>G (n.655+2665A>G)
c.1168-606A>G (n.1168-606A>G)
c.2581A>G (p.Ser861Gly)
c.2644A>G (p.Ser882Gly)
c.2632A>G (p.Ser878Gly)
dbSNP
2g.144398534T>GCA348707590ZEB2c.*2502A>C (n.*2502A>C)
c.1876A>C (p.Ser626Arg)
c.2653A>C (p.Ser885Arg)
n.2622A>C
c.2317A>C (p.Ser773Arg)
c.2728A>C (p.Ser910Arg)
c.*2370A>C (n.*2370A>C)
n.2753A>C
c.184A>C (p.Ser62Arg)
c.2650A>C (p.Ser884Arg)
c.655+2665A>C (n.655+2665A>C)
c.1168-606A>C (n.1168-606A>C)
c.2581A>C (p.Ser861Arg)
c.2644A>C (p.Ser882Arg)
c.2632A>C (p.Ser878Arg)
2g.144398535G>ACA429445104ZEB2c.*2501C>T (n.*2501C>T)
c.1875C>T (p.Phe625=)
c.2652C>T (p.Phe884=)
n.2621C>T
c.2316C>T (p.Phe772=)
c.2727C>T (p.Phe909=)
c.*2369C>T (n.*2369C>T)
n.2752C>T
c.183C>T (p.Phe61=)
c.2649C>T (p.Phe883=)
c.655+2664C>T (n.655+2664C>T)
c.1168-607C>T (n.1168-607C>T)
c.2580C>T (p.Phe860=)
c.2643C>T (p.Phe881=)
c.2631C>T (p.Phe877=)
2g.144398535G>CCA348707592ZEB2c.*2501C>G (n.*2501C>G)
c.1875C>G (p.Phe625Leu)
c.2652C>G (p.Phe884Leu)
n.2621C>G
c.2316C>G (p.Phe772Leu)
c.2727C>G (p.Phe909Leu)
c.*2369C>G (n.*2369C>G)
n.2752C>G
c.183C>G (p.Phe61Leu)
c.2649C>G (p.Phe883Leu)
c.655+2664C>G (n.655+2664C>G)
c.1168-607C>G (n.1168-607C>G)
c.2580C>G (p.Phe860Leu)
c.2643C>G (p.Phe881Leu)
c.2631C>G (p.Phe877Leu)
dbSNP gnomAD v2 gnomAD v4
2g.144398535G=CA1294884931ZEB2c.*2501C= (n.*2501C=)
c.1875C= (p.Phe625=)
c.2652C= (p.Phe884=)
n.2621C=
c.2316C= (p.Phe772=)
c.2727C= (p.Phe909=)
c.*2369C= (n.*2369C=)
n.2752C=
c.183C= (p.Phe61=)
c.2649C= (p.Phe883=)
c.655+2664C= (n.655+2664C=)
c.1168-607C= (n.1168-607C=)
c.2580C= (p.Phe860=)
c.2643C= (p.Phe881=)
c.2631C= (p.Phe877=)
2g.144398535G>TCA348707594ZEB2c.*2501C>A (n.*2501C>A)
c.1875C>A (p.Phe625Leu)
c.2652C>A (p.Phe884Leu)
n.2621C>A
c.2316C>A (p.Phe772Leu)
c.2727C>A (p.Phe909Leu)
c.*2369C>A (n.*2369C>A)
n.2752C>A
c.183C>A (p.Phe61Leu)
c.2649C>A (p.Phe883Leu)
c.655+2664C>A (n.655+2664C>A)
c.1168-607C>A (n.1168-607C>A)
c.2580C>A (p.Phe860Leu)
c.2643C>A (p.Phe881Leu)
c.2631C>A (p.Phe877Leu)
2g.144398536A>CCA348707596ZEB2c.*2500T>G (n.*2500T>G)
c.1874T>G (p.Phe625Cys)
c.2651T>G (p.Phe884Cys)
n.2620T>G
c.2315T>G (p.Phe772Cys)
c.2726T>G (p.Phe909Cys)
c.*2368T>G (n.*2368T>G)
n.2751T>G
c.182T>G (p.Phe61Cys)
c.2648T>G (p.Phe883Cys)
c.655+2663T>G (n.655+2663T>G)
c.1168-608T>G (n.1168-608T>G)
c.2579T>G (p.Phe860Cys)
c.2642T>G (p.Phe881Cys)
c.2630T>G (p.Phe877Cys)
2g.144398536A>GCA348707597ZEB2c.*2500T>C (n.*2500T>C)
c.1874T>C (p.Phe625Ser)
c.2651T>C (p.Phe884Ser)
n.2620T>C
c.2315T>C (p.Phe772Ser)
c.2726T>C (p.Phe909Ser)
c.*2368T>C (n.*2368T>C)
n.2751T>C
c.182T>C (p.Phe61Ser)
c.2648T>C (p.Phe883Ser)
c.655+2663T>C (n.655+2663T>C)
c.1168-608T>C (n.1168-608T>C)
c.2579T>C (p.Phe860Ser)
c.2642T>C (p.Phe881Ser)
c.2630T>C (p.Phe877Ser)
2g.144398536A>TCA348707600ZEB2c.*2500T>A (n.*2500T>A)
c.1874T>A (p.Phe625Tyr)
c.2651T>A (p.Phe884Tyr)
n.2620T>A
c.2315T>A (p.Phe772Tyr)
c.2726T>A (p.Phe909Tyr)
c.*2368T>A (n.*2368T>A)
n.2751T>A
c.182T>A (p.Phe61Tyr)
c.2648T>A (p.Phe883Tyr)
c.655+2663T>A (n.655+2663T>A)
c.1168-608T>A (n.1168-608T>A)
c.2579T>A (p.Phe860Tyr)
c.2642T>A (p.Phe881Tyr)
c.2630T>A (p.Phe877Tyr)
2g.144398537A>CCA348707606ZEB2c.*2499T>G (n.*2499T>G)
c.1873T>G (p.Phe625Val)
c.2650T>G (p.Phe884Val)
n.2619T>G
c.2314T>G (p.Phe772Val)
c.2725T>G (p.Phe909Val)
c.*2367T>G (n.*2367T>G)
n.2750T>G
c.181T>G (p.Phe61Val)
c.2647T>G (p.Phe883Val)
c.655+2662T>G (n.655+2662T>G)
c.1168-609T>G (n.1168-609T>G)
c.2578T>G (p.Phe860Val)
c.2641T>G (p.Phe881Val)
c.2629T>G (p.Phe877Val)
2g.144398537A>GCA348707602ZEB2c.*2499T>C (n.*2499T>C)
c.1873T>C (p.Phe625Leu)
c.2650T>C (p.Phe884Leu)
n.2619T>C
c.2314T>C (p.Phe772Leu)
c.2725T>C (p.Phe909Leu)
c.*2367T>C (n.*2367T>C)
n.2750T>C
c.181T>C (p.Phe61Leu)
c.2647T>C (p.Phe883Leu)
c.655+2662T>C (n.655+2662T>C)
c.1168-609T>C (n.1168-609T>C)
c.2578T>C (p.Phe860Leu)
c.2641T>C (p.Phe881Leu)
c.2629T>C (p.Phe877Leu)
ClinVar gnomAD v4
2g.144398537A>TCA348707604ZEB2c.*2499T>A (n.*2499T>A)
c.1873T>A (p.Phe625Ile)
c.2650T>A (p.Phe884Ile)
n.2619T>A
c.2314T>A (p.Phe772Ile)
c.2725T>A (p.Phe909Ile)
c.*2367T>A (n.*2367T>A)
n.2750T>A
c.181T>A (p.Phe61Ile)
c.2647T>A (p.Phe883Ile)
c.655+2662T>A (n.655+2662T>A)
c.1168-609T>A (n.1168-609T>A)
c.2578T>A (p.Phe860Ile)
c.2641T>A (p.Phe881Ile)
c.2629T>A (p.Phe877Ile)
2g.144398538C>ACA429445121ZEB2c.*2498G>T (n.*2498G>T)
c.1872G>T (p.Val624=)
c.2649G>T (p.Val883=)
n.2618G>T
c.2313G>T (p.Val771=)
c.2724G>T (p.Val908=)
c.*2366G>T (n.*2366G>T)
n.2749G>T
c.180G>T (p.Val60=)
c.2646G>T (p.Val882=)
c.655+2661G>T (n.655+2661G>T)
c.1168-610G>T (n.1168-610G>T)
c.2577G>T (p.Val859=)
c.2640G>T (p.Val880=)
c.2628G>T (p.Val876=)
ClinVar
2g.144398538C>GCA429445122ZEB2c.*2498G>C (n.*2498G>C)
c.1872G>C (p.Val624=)
c.2649G>C (p.Val883=)
n.2618G>C
c.2313G>C (p.Val771=)
c.2724G>C (p.Val908=)
c.*2366G>C (n.*2366G>C)
n.2749G>C
c.180G>C (p.Val60=)
c.2646G>C (p.Val882=)
c.655+2661G>C (n.655+2661G>C)
c.1168-610G>C (n.1168-610G>C)
c.2577G>C (p.Val859=)
c.2640G>C (p.Val880=)
c.2628G>C (p.Val876=)
2g.144398538C>TCA429445124ZEB2c.*2498G>A (n.*2498G>A)
c.1872G>A (p.Val624=)
c.2649G>A (p.Val883=)
n.2618G>A
c.2313G>A (p.Val771=)
c.2724G>A (p.Val908=)
c.*2366G>A (n.*2366G>A)
n.2749G>A
c.180G>A (p.Val60=)
c.2646G>A (p.Val882=)
c.655+2661G>A (n.655+2661G>A)
c.1168-610G>A (n.1168-610G>A)
c.2577G>A (p.Val859=)
c.2640G>A (p.Val880=)
c.2628G>A (p.Val876=)
gnomAD v4
2g.144398538_144398552delinsTTACA2740095695ZEB2c.*2484_*2498delinsTAA (n.*2484_*2498delinsTAA)
c.1858_1872delinsTAA (p.Ser620Ter)
c.2635_2649delinsTAA (p.Ser879Ter)
n.2604_2618delinsTAA
c.2299_2313delinsTAA (p.Ser767Ter)
c.2710_2724delinsTAA (p.Ser904Ter)
c.*2352_*2366delinsTAA (n.*2352_*2366delinsTAA)
n.2735_2749delinsTAA
c.166_180delinsTAA (p.Ser56Ter)
c.2632_2646delinsTAA (p.Ser878Ter)
c.655+2647_655+2661delinsTAA (n.655+2647_655+2661delinsTAA)
c.1168-624_1168-610delinsTAA (n.1168-624_1168-610delinsTAA)
c.2563_2577delinsTAA (p.Ser855Ter)
c.2626_2640delinsTAA (p.Ser876Ter)
c.2614_2628delinsTAA (p.Ser872Ter)
ClinVar
2g.144398539A>CCA348707608ZEB2c.*2497T>G (n.*2497T>G)
c.1871T>G (p.Val624Gly)
c.2648T>G (p.Val883Gly)
n.2617T>G
c.2312T>G (p.Val771Gly)
c.2723T>G (p.Val908Gly)
c.*2365T>G (n.*2365T>G)
n.2748T>G
c.179T>G (p.Val60Gly)
c.2645T>G (p.Val882Gly)
c.655+2660T>G (n.655+2660T>G)
c.1168-611T>G (n.1168-611T>G)
c.2576T>G (p.Val859Gly)
c.2639T>G (p.Val880Gly)
c.2627T>G (p.Val876Gly)
2g.144398539A>GCA348707610ZEB2c.*2497T>C (n.*2497T>C)
c.1871T>C (p.Val624Ala)
c.2648T>C (p.Val883Ala)
n.2617T>C
c.2312T>C (p.Val771Ala)
c.2723T>C (p.Val908Ala)
c.*2365T>C (n.*2365T>C)
n.2748T>C
c.179T>C (p.Val60Ala)
c.2645T>C (p.Val882Ala)
c.655+2660T>C (n.655+2660T>C)
c.1168-611T>C (n.1168-611T>C)
c.2576T>C (p.Val859Ala)
c.2639T>C (p.Val880Ala)
c.2627T>C (p.Val876Ala)
2g.144398539A>TCA348707611ZEB2c.*2497T>A (n.*2497T>A)
c.1871T>A (p.Val624Glu)
c.2648T>A (p.Val883Glu)
n.2617T>A
c.2312T>A (p.Val771Glu)
c.2723T>A (p.Val908Glu)
c.*2365T>A (n.*2365T>A)
n.2748T>A
c.179T>A (p.Val60Glu)
c.2645T>A (p.Val882Glu)
c.655+2660T>A (n.655+2660T>A)
c.1168-611T>A (n.1168-611T>A)
c.2576T>A (p.Val859Glu)
c.2639T>A (p.Val880Glu)
c.2627T>A (p.Val876Glu)
2g.144398540C>ACA348707614ZEB2c.*2496G>T (n.*2496G>T)
c.1870G>T (p.Val624Leu)
c.2647G>T (p.Val883Leu)
n.2616G>T
c.2311G>T (p.Val771Leu)
c.2722G>T (p.Val908Leu)
c.*2364G>T (n.*2364G>T)
n.2747G>T
c.178G>T (p.Val60Leu)
c.2644G>T (p.Val882Leu)
c.655+2659G>T (n.655+2659G>T)
c.1168-612G>T (n.1168-612G>T)
c.2575G>T (p.Val859Leu)
c.2638G>T (p.Val880Leu)
c.2626G>T (p.Val876Leu)
2g.144398540C=CA1294884932ZEB2c.*2496G= (n.*2496G=)
c.1870G= (p.Val624=)
c.2647G= (p.Val883=)
n.2616G=
c.2311G= (p.Val771=)
c.2722G= (p.Val908=)
c.*2364G= (n.*2364G=)
n.2747G=
c.178G= (p.Val60=)
c.2644G= (p.Val882=)
c.655+2659G= (n.655+2659G=)
c.1168-612G= (n.1168-612G=)
c.2575G= (p.Val859=)
c.2638G= (p.Val880=)
c.2626G= (p.Val876=)
2g.144398540C>GCA348707615ZEB2c.*2496G>C (n.*2496G>C)
c.1870G>C (p.Val624Leu)
c.2647G>C (p.Val883Leu)
n.2616G>C
c.2311G>C (p.Val771Leu)
c.2722G>C (p.Val908Leu)
c.*2364G>C (n.*2364G>C)
n.2747G>C
c.178G>C (p.Val60Leu)
c.2644G>C (p.Val882Leu)
c.655+2659G>C (n.655+2659G>C)
c.1168-612G>C (n.1168-612G>C)
c.2575G>C (p.Val859Leu)
c.2638G>C (p.Val880Leu)
c.2626G>C (p.Val876Leu)
dbSNP
2g.144398540C>TCA1898223ZEB2c.*2496G>A (n.*2496G>A)
c.1870G>A (p.Val624Met)
c.2647G>A (p.Val883Met)
n.2616G>A
c.2311G>A (p.Val771Met)
c.2722G>A (p.Val908Met)
c.*2364G>A (n.*2364G>A)
n.2747G>A
c.178G>A (p.Val60Met)
c.2644G>A (p.Val882Met)
c.655+2659G>A (n.655+2659G>A)
c.1168-612G>A (n.1168-612G>A)
c.2575G>A (p.Val859Met)
c.2638G>A (p.Val880Met)
c.2626G>A (p.Val876Met)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.144398541delCA2586970082ZEB2c.*2495del (n.*2495del)
c.1869del (p.Val624CysfsTer4)
c.2646del (p.Val883CysfsTer4)
n.2615del
c.2310del (p.Val771CysfsTer4)
c.2721del (p.Val908CysfsTer4)
c.*2363del (n.*2363del)
n.2746del
c.177del (p.Val60CysfsTer4)
c.2643del (p.Val882CysfsTer4)
c.655+2658del (n.655+2658del)
c.1168-613del (n.1168-613del)
c.2574del (p.Val859CysfsTer4)
c.2637del (p.Val880CysfsTer4)
c.2625del (p.Val876CysfsTer4)
2g.144398541T>ACA429445136ZEB2c.*2495A>T (n.*2495A>T)
c.1869A>T (p.Pro623=)
c.2646A>T (p.Pro882=)
n.2615A>T
c.2310A>T (p.Pro770=)
c.2721A>T (p.Pro907=)
c.*2363A>T (n.*2363A>T)
n.2746A>T
c.177A>T (p.Pro59=)
c.2643A>T (p.Pro881=)
c.655+2658A>T (n.655+2658A>T)
c.1168-613A>T (n.1168-613A>T)
c.2574A>T (p.Pro858=)
c.2637A>T (p.Pro879=)
c.2625A>T (p.Pro875=)
2g.144398541T>CCA1898224ZEB2c.*2495A>G (n.*2495A>G)
c.1869A>G (p.Pro623=)
c.2646A>G (p.Pro882=)
n.2615A>G
c.2310A>G (p.Pro770=)
c.2721A>G (p.Pro907=)
c.*2363A>G (n.*2363A>G)
n.2746A>G
c.177A>G (p.Pro59=)
c.2643A>G (p.Pro881=)
c.655+2658A>G (n.655+2658A>G)
c.1168-613A>G (n.1168-613A>G)
c.2574A>G (p.Pro858=)
c.2637A>G (p.Pro879=)
c.2625A>G (p.Pro875=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.144398541T>GCA429445138ZEB2c.*2495A>C (n.*2495A>C)
c.1869A>C (p.Pro623=)
c.2646A>C (p.Pro882=)
n.2615A>C
c.2310A>C (p.Pro770=)
c.2721A>C (p.Pro907=)
c.*2363A>C (n.*2363A>C)
n.2746A>C
c.177A>C (p.Pro59=)
c.2643A>C (p.Pro881=)
c.655+2658A>C (n.655+2658A>C)
c.1168-613A>C (n.1168-613A>C)
c.2574A>C (p.Pro858=)
c.2637A>C (p.Pro879=)
c.2625A>C (p.Pro875=)
2g.144398541T=CA1294884933ZEB2c.*2495A= (n.*2495A=)
c.1869A= (p.Pro623=)
c.2646A= (p.Pro882=)
n.2615A=
c.2310A= (p.Pro770=)
c.2721A= (p.Pro907=)
c.*2363A= (n.*2363A=)
n.2746A=
c.177A= (p.Pro59=)
c.2643A= (p.Pro881=)
c.655+2658A= (n.655+2658A=)
c.1168-613A= (n.1168-613A=)
c.2574A= (p.Pro858=)
c.2637A= (p.Pro879=)
c.2625A= (p.Pro875=)
2g.144398542G>ACA348707623ZEB2c.*2494C>T (n.*2494C>T)
c.1868C>T (p.Pro623Leu)
c.2645C>T (p.Pro882Leu)
n.2614C>T
c.2309C>T (p.Pro770Leu)
c.2720C>T (p.Pro907Leu)
c.*2362C>T (n.*2362C>T)
n.2745C>T
c.176C>T (p.Pro59Leu)
c.2642C>T (p.Pro881Leu)
c.655+2657C>T (n.655+2657C>T)
c.1168-614C>T (n.1168-614C>T)
c.2573C>T (p.Pro858Leu)
c.2636C>T (p.Pro879Leu)
c.2624C>T (p.Pro875Leu)
COSMIC
2g.144398542G>CCA348707619ZEB2c.*2494C>G (n.*2494C>G)
c.1868C>G (p.Pro623Arg)
c.2645C>G (p.Pro882Arg)
n.2614C>G
c.2309C>G (p.Pro770Arg)
c.2720C>G (p.Pro907Arg)
c.*2362C>G (n.*2362C>G)
n.2745C>G
c.176C>G (p.Pro59Arg)
c.2642C>G (p.Pro881Arg)
c.655+2657C>G (n.655+2657C>G)
c.1168-614C>G (n.1168-614C>G)
c.2573C>G (p.Pro858Arg)
c.2636C>G (p.Pro879Arg)
c.2624C>G (p.Pro875Arg)
2g.144398542G>TCA348707621ZEB2c.*2494C>A (n.*2494C>A)
c.1868C>A (p.Pro623Gln)
c.2645C>A (p.Pro882Gln)
n.2614C>A
c.2309C>A (p.Pro770Gln)
c.2720C>A (p.Pro907Gln)
c.*2362C>A (n.*2362C>A)
n.2745C>A
c.176C>A (p.Pro59Gln)
c.2642C>A (p.Pro881Gln)
c.655+2657C>A (n.655+2657C>A)
c.1168-614C>A (n.1168-614C>A)
c.2573C>A (p.Pro858Gln)
c.2636C>A (p.Pro879Gln)
c.2624C>A (p.Pro875Gln)
2g.144398544dupCA2739271223ZEB2c.*2494dup (n.*2494dup)
c.1868dup (p.Val624SerfsTer8)
c.2645dup (p.Val883SerfsTer8)
n.2614dup
c.2309dup (p.Val771SerfsTer8)
c.2720dup (p.Val908SerfsTer8)
c.*2362dup (n.*2362dup)
n.2745dup
c.176dup (p.Val60SerfsTer8)
c.2642dup (p.Val882SerfsTer8)
c.655+2657dup (n.655+2657dup)
c.1168-614dup (n.1168-614dup)
c.2573dup (p.Val859SerfsTer8)
c.2636dup (p.Val880SerfsTer8)
c.2624dup (p.Val876SerfsTer8)
ClinVar
2g.144398543G>ACA348707625ZEB2c.*2493C>T (n.*2493C>T)
c.1867C>T (p.Pro623Ser)
c.2644C>T (p.Pro882Ser)
n.2613C>T
c.2308C>T (p.Pro770Ser)
c.2719C>T (p.Pro907Ser)
c.*2361C>T (n.*2361C>T)
n.2744C>T
c.175C>T (p.Pro59Ser)
c.2641C>T (p.Pro881Ser)
c.655+2656C>T (n.655+2656C>T)
c.1168-615C>T (n.1168-615C>T)
c.2572C>T (p.Pro858Ser)
c.2635C>T (p.Pro879Ser)
c.2623C>T (p.Pro875Ser)
ClinVar
2g.144398543G>CCA348707626ZEB2c.*2493C>G (n.*2493C>G)
c.1867C>G (p.Pro623Ala)
c.2644C>G (p.Pro882Ala)
n.2613C>G
c.2308C>G (p.Pro770Ala)
c.2719C>G (p.Pro907Ala)
c.*2361C>G (n.*2361C>G)
n.2744C>G
c.175C>G (p.Pro59Ala)
c.2641C>G (p.Pro881Ala)
c.655+2656C>G (n.655+2656C>G)
c.1168-615C>G (n.1168-615C>G)
c.2572C>G (p.Pro858Ala)
c.2635C>G (p.Pro879Ala)
c.2623C>G (p.Pro875Ala)
2g.144398543G>TCA348707628ZEB2c.*2493C>A (n.*2493C>A)
c.1867C>A (p.Pro623Thr)
c.2644C>A (p.Pro882Thr)
n.2613C>A
c.2308C>A (p.Pro770Thr)
c.2719C>A (p.Pro907Thr)
c.*2361C>A (n.*2361C>A)
n.2744C>A
c.175C>A (p.Pro59Thr)
c.2641C>A (p.Pro881Thr)
c.655+2656C>A (n.655+2656C>A)
c.1168-615C>A (n.1168-615C>A)
c.2572C>A (p.Pro858Thr)
c.2635C>A (p.Pro879Thr)
c.2623C>A (p.Pro875Thr)
2g.144398544G>ACA429445141ZEB2c.*2492C>T (n.*2492C>T)
c.1866C>T (p.Asn622=)
c.2643C>T (p.Asn881=)
n.2612C>T
c.2307C>T (p.Asn769=)
c.2718C>T (p.Asn906=)
c.*2360C>T (n.*2360C>T)
n.2743C>T
c.174C>T (p.Asn58=)
c.2640C>T (p.Asn880=)
c.655+2655C>T (n.655+2655C>T)
c.1168-616C>T (n.1168-616C>T)
c.2571C>T (p.Asn857=)
c.2634C>T (p.Asn878=)
c.2622C>T (p.Asn874=)
dbSNP gnomAD v4
2g.144398544G>CCA348707630ZEB2c.*2492C>G (n.*2492C>G)
c.1866C>G (p.Asn622Lys)
c.2643C>G (p.Asn881Lys)
n.2612C>G
c.2307C>G (p.Asn769Lys)
c.2718C>G (p.Asn906Lys)
c.*2360C>G (n.*2360C>G)
n.2743C>G
c.174C>G (p.Asn58Lys)
c.2640C>G (p.Asn880Lys)
c.655+2655C>G (n.655+2655C>G)
c.1168-616C>G (n.1168-616C>G)
c.2571C>G (p.Asn857Lys)
c.2634C>G (p.Asn878Lys)
c.2622C>G (p.Asn874Lys)
2g.144398544G=CA1294884934ZEB2c.*2492C= (n.*2492C=)
c.1866C= (p.Asn622=)
c.2643C= (p.Asn881=)
n.2612C=
c.2307C= (p.Asn769=)
c.2718C= (p.Asn906=)
c.*2360C= (n.*2360C=)
n.2743C=
c.174C= (p.Asn58=)
c.2640C= (p.Asn880=)
c.655+2655C= (n.655+2655C=)
c.1168-616C= (n.1168-616C=)
c.2571C= (p.Asn857=)
c.2634C= (p.Asn878=)
c.2622C= (p.Asn874=)
2g.144398544G>TCA348707632ZEB2c.*2492C>A (n.*2492C>A)
c.1866C>A (p.Asn622Lys)
c.2643C>A (p.Asn881Lys)
n.2612C>A
c.2307C>A (p.Asn769Lys)
c.2718C>A (p.Asn906Lys)
c.*2360C>A (n.*2360C>A)
n.2743C>A
c.174C>A (p.Asn58Lys)
c.2640C>A (p.Asn880Lys)
c.655+2655C>A (n.655+2655C>A)
c.1168-616C>A (n.1168-616C>A)
c.2571C>A (p.Asn857Lys)
c.2634C>A (p.Asn878Lys)
c.2622C>A (p.Asn874Lys)
2g.144398545T>ACA348707634ZEB2c.*2491A>T (n.*2491A>T)
c.1865A>T (p.Asn622Ile)
c.2642A>T (p.Asn881Ile)
n.2611A>T
c.2306A>T (p.Asn769Ile)
c.2717A>T (p.Asn906Ile)
c.*2359A>T (n.*2359A>T)
n.2742A>T
c.173A>T (p.Asn58Ile)
c.2639A>T (p.Asn880Ile)
c.655+2654A>T (n.655+2654A>T)
c.1168-617A>T (n.1168-617A>T)
c.2570A>T (p.Asn857Ile)
c.2633A>T (p.Asn878Ile)
c.2621A>T (p.Asn874Ile)
2g.144398545T>CCA348707637ZEB2c.*2491A>G (n.*2491A>G)
c.1865A>G (p.Asn622Ser)
c.2642A>G (p.Asn881Ser)
n.2611A>G
c.2306A>G (p.Asn769Ser)
c.2717A>G (p.Asn906Ser)
c.*2359A>G (n.*2359A>G)
n.2742A>G
c.173A>G (p.Asn58Ser)
c.2639A>G (p.Asn880Ser)
c.655+2654A>G (n.655+2654A>G)
c.1168-617A>G (n.1168-617A>G)
c.2570A>G (p.Asn857Ser)
c.2633A>G (p.Asn878Ser)
c.2621A>G (p.Asn874Ser)
2g.144398545T>GCA348707635ZEB2c.*2491A>C (n.*2491A>C)
c.1865A>C (p.Asn622Thr)
c.2642A>C (p.Asn881Thr)
n.2611A>C
c.2306A>C (p.Asn769Thr)
c.2717A>C (p.Asn906Thr)
c.*2359A>C (n.*2359A>C)
n.2742A>C
c.173A>C (p.Asn58Thr)
c.2639A>C (p.Asn880Thr)
c.655+2654A>C (n.655+2654A>C)
c.1168-617A>C (n.1168-617A>C)
c.2570A>C (p.Asn857Thr)
c.2633A>C (p.Asn878Thr)
c.2621A>C (p.Asn874Thr)
2g.144398546T>ACA348707640ZEB2c.*2490A>T (n.*2490A>T)
c.1864A>T (p.Asn622Tyr)
c.2641A>T (p.Asn881Tyr)
n.2610A>T
c.2305A>T (p.Asn769Tyr)
c.2716A>T (p.Asn906Tyr)
c.*2358A>T (n.*2358A>T)
n.2741A>T
c.172A>T (p.Asn58Tyr)
c.2638A>T (p.Asn880Tyr)
c.655+2653A>T (n.655+2653A>T)
c.1168-618A>T (n.1168-618A>T)
c.2569A>T (p.Asn857Tyr)
c.2632A>T (p.Asn878Tyr)
c.2620A>T (p.Asn874Tyr)
2g.144398546T>CCA348707641ZEB2c.*2490A>G (n.*2490A>G)
c.1864A>G (p.Asn622Asp)
c.2641A>G (p.Asn881Asp)
n.2610A>G
c.2305A>G (p.Asn769Asp)
c.2716A>G (p.Asn906Asp)
c.*2358A>G (n.*2358A>G)
n.2741A>G
c.172A>G (p.Asn58Asp)
c.2638A>G (p.Asn880Asp)
c.655+2653A>G (n.655+2653A>G)
c.1168-618A>G (n.1168-618A>G)
c.2569A>G (p.Asn857Asp)
c.2632A>G (p.Asn878Asp)
c.2620A>G (p.Asn874Asp)
2g.144398546T>GCA247713ZEB2c.*2490A>C (n.*2490A>C)
c.1864A>C (p.Asn622His)
c.2641A>C (p.Asn881His)
n.2610A>C
c.2305A>C (p.Asn769His)
c.2716A>C (p.Asn906His)
c.*2358A>C (n.*2358A>C)
n.2741A>C
c.172A>C (p.Asn58His)
c.2638A>C (p.Asn880His)
c.655+2653A>C (n.655+2653A>C)
c.1168-618A>C (n.1168-618A>C)
c.2569A>C (p.Asn857His)
c.2632A>C (p.Asn878His)
c.2620A>C (p.Asn874His)
ClinVar dbSNP gnomAD v4
2g.144398546T=CA1294884935ZEB2c.*2490A= (n.*2490A=)
c.1864A= (p.Asn622=)
c.2641A= (p.Asn881=)
n.2610A=
c.2305A= (p.Asn769=)
c.2716A= (p.Asn906=)
c.*2358A= (n.*2358A=)
n.2741A=
c.172A= (p.Asn58=)
c.2638A= (p.Asn880=)
c.655+2653A= (n.655+2653A=)
c.1168-618A= (n.1168-618A=)
c.2569A= (p.Asn857=)
c.2632A= (p.Asn878=)
c.2620A= (p.Asn874=)
2g.144398547A=CA1294884936ZEB2c.*2489T= (n.*2489T=)
c.1863T= (p.Thr621=)
c.2640T= (p.Thr880=)
n.2609T=
c.2304T= (p.Thr768=)
c.2715T= (p.Thr905=)
c.*2357T= (n.*2357T=)
n.2740T=
c.171T= (p.Thr57=)
c.2637T= (p.Thr879=)
c.655+2652T= (n.655+2652T=)
c.1168-619T= (n.1168-619T=)
c.2568T= (p.Thr856=)
c.2631T= (p.Thr877=)
c.2619T= (p.Thr873=)
2g.144398547A>CCA429445153ZEB2c.*2489T>G (n.*2489T>G)
c.1863T>G (p.Thr621=)
c.2640T>G (p.Thr880=)
n.2609T>G
c.2304T>G (p.Thr768=)
c.2715T>G (p.Thr905=)
c.*2357T>G (n.*2357T>G)
n.2740T>G
c.171T>G (p.Thr57=)
c.2637T>G (p.Thr879=)
c.655+2652T>G (n.655+2652T>G)
c.1168-619T>G (n.1168-619T>G)
c.2568T>G (p.Thr856=)
c.2631T>G (p.Thr877=)
c.2619T>G (p.Thr873=)
2g.144398547A>GCA429445154ZEB2c.*2489T>C (n.*2489T>C)
c.1863T>C (p.Thr621=)
c.2640T>C (p.Thr880=)
n.2609T>C
c.2304T>C (p.Thr768=)
c.2715T>C (p.Thr905=)
c.*2357T>C (n.*2357T>C)
n.2740T>C
c.171T>C (p.Thr57=)
c.2637T>C (p.Thr879=)
c.655+2652T>C (n.655+2652T>C)
c.1168-619T>C (n.1168-619T>C)
c.2568T>C (p.Thr856=)
c.2631T>C (p.Thr877=)
c.2619T>C (p.Thr873=)
2g.144398547A>TCA429445156ZEB2c.*2489T>A (n.*2489T>A)
c.1863T>A (p.Thr621=)
c.2640T>A (p.Thr880=)
n.2609T>A
c.2304T>A (p.Thr768=)
c.2715T>A (p.Thr905=)
c.*2357T>A (n.*2357T>A)
n.2740T>A
c.171T>A (p.Thr57=)
c.2637T>A (p.Thr879=)
c.655+2652T>A (n.655+2652T>A)
c.1168-619T>A (n.1168-619T>A)
c.2568T>A (p.Thr856=)
c.2631T>A (p.Thr877=)
c.2619T>A (p.Thr873=)
dbSNP gnomAD v4
2g.144398548G>ACA348707645ZEB2c.*2488C>T (n.*2488C>T)
c.1862C>T (p.Thr621Ile)
c.2639C>T (p.Thr880Ile)
n.2608C>T
c.2303C>T (p.Thr768Ile)
c.2714C>T (p.Thr905Ile)
c.*2356C>T (n.*2356C>T)
n.2739C>T
c.170C>T (p.Thr57Ile)
c.2636C>T (p.Thr879Ile)
c.655+2651C>T (n.655+2651C>T)
c.1168-620C>T (n.1168-620C>T)
c.2567C>T (p.Thr856Ile)
c.2630C>T (p.Thr877Ile)
c.2618C>T (p.Thr873Ile)
2g.144398548G>CCA348707647ZEB2c.*2488C>G (n.*2488C>G)
c.1862C>G (p.Thr621Ser)
c.2639C>G (p.Thr880Ser)
n.2608C>G
c.2303C>G (p.Thr768Ser)
c.2714C>G (p.Thr905Ser)
c.*2356C>G (n.*2356C>G)
n.2739C>G
c.170C>G (p.Thr57Ser)
c.2636C>G (p.Thr879Ser)
c.655+2651C>G (n.655+2651C>G)
c.1168-620C>G (n.1168-620C>G)
c.2567C>G (p.Thr856Ser)
c.2630C>G (p.Thr877Ser)
c.2618C>G (p.Thr873Ser)
gnomAD v4
2g.144398548G>TCA348707648ZEB2c.*2488C>A (n.*2488C>A)
c.1862C>A (p.Thr621Asn)
c.2639C>A (p.Thr880Asn)
n.2608C>A
c.2303C>A (p.Thr768Asn)
c.2714C>A (p.Thr905Asn)
c.*2356C>A (n.*2356C>A)
n.2739C>A
c.170C>A (p.Thr57Asn)
c.2636C>A (p.Thr879Asn)
c.655+2651C>A (n.655+2651C>A)
c.1168-620C>A (n.1168-620C>A)
c.2567C>A (p.Thr856Asn)
c.2630C>A (p.Thr877Asn)
c.2618C>A (p.Thr873Asn)
2g.144398549T>ACA348707651ZEB2c.*2487A>T (n.*2487A>T)
c.1861A>T (p.Thr621Ser)
c.2638A>T (p.Thr880Ser)
n.2607A>T
c.2302A>T (p.Thr768Ser)
c.2713A>T (p.Thr905Ser)
c.*2355A>T (n.*2355A>T)
n.2738A>T
c.169A>T (p.Thr57Ser)
c.2635A>T (p.Thr879Ser)
c.655+2650A>T (n.655+2650A>T)
c.1168-621A>T (n.1168-621A>T)
c.2566A>T (p.Thr856Ser)
c.2629A>T (p.Thr877Ser)
c.2617A>T (p.Thr873Ser)
gnomAD v4
2g.144398549T>CCA348707652ZEB2c.*2487A>G (n.*2487A>G)
c.1861A>G (p.Thr621Ala)
c.2638A>G (p.Thr880Ala)
n.2607A>G
c.2302A>G (p.Thr768Ala)
c.2713A>G (p.Thr905Ala)
c.*2355A>G (n.*2355A>G)
n.2738A>G
c.169A>G (p.Thr57Ala)
c.2635A>G (p.Thr879Ala)
c.655+2650A>G (n.655+2650A>G)
c.1168-621A>G (n.1168-621A>G)
c.2566A>G (p.Thr856Ala)
c.2629A>G (p.Thr877Ala)
c.2617A>G (p.Thr873Ala)
2g.144398549T>GCA348707653ZEB2c.*2487A>C (n.*2487A>C)
c.1861A>C (p.Thr621Pro)
c.2638A>C (p.Thr880Pro)
n.2607A>C
c.2302A>C (p.Thr768Pro)
c.2713A>C (p.Thr905Pro)
c.*2355A>C (n.*2355A>C)
n.2738A>C
c.169A>C (p.Thr57Pro)
c.2635A>C (p.Thr879Pro)
c.655+2650A>C (n.655+2650A>C)
c.1168-621A>C (n.1168-621A>C)
c.2566A>C (p.Thr856Pro)
c.2629A>C (p.Thr877Pro)
c.2617A>C (p.Thr873Pro)
2g.144398550G>ACA429445163ZEB2c.*2486C>T (n.*2486C>T)
c.1860C>T (p.Ser620=)
c.2637C>T (p.Ser879=)
n.2606C>T
c.2301C>T (p.Ser767=)
c.2712C>T (p.Ser904=)
c.*2354C>T (n.*2354C>T)
n.2737C>T
c.168C>T (p.Ser56=)
c.2634C>T (p.Ser878=)
c.655+2649C>T (n.655+2649C>T)
c.1168-622C>T (n.1168-622C>T)
c.2565C>T (p.Ser855=)
c.2628C>T (p.Ser876=)
c.2616C>T (p.Ser872=)
dbSNP gnomAD v2 gnomAD v4
2g.144398550G>CCA348707655ZEB2c.*2486C>G (n.*2486C>G)
c.1860C>G (p.Ser620Arg)
c.2637C>G (p.Ser879Arg)
n.2606C>G
c.2301C>G (p.Ser767Arg)
c.2712C>G (p.Ser904Arg)
c.*2354C>G (n.*2354C>G)
n.2737C>G
c.168C>G (p.Ser56Arg)
c.2634C>G (p.Ser878Arg)
c.655+2649C>G (n.655+2649C>G)
c.1168-622C>G (n.1168-622C>G)
c.2565C>G (p.Ser855Arg)
c.2628C>G (p.Ser876Arg)
c.2616C>G (p.Ser872Arg)
2g.144398550G=CA1294884937ZEB2c.*2486C= (n.*2486C=)
c.1860C= (p.Ser620=)
c.2637C= (p.Ser879=)
n.2606C=
c.2301C= (p.Ser767=)
c.2712C= (p.Ser904=)
c.*2354C= (n.*2354C=)
n.2737C=
c.168C= (p.Ser56=)
c.2634C= (p.Ser878=)
c.655+2649C= (n.655+2649C=)
c.1168-622C= (n.1168-622C=)
c.2565C= (p.Ser855=)
c.2628C= (p.Ser876=)
c.2616C= (p.Ser872=)
2g.144398550G>TCA348707657ZEB2c.*2486C>A (n.*2486C>A)
c.1860C>A (p.Ser620Arg)
c.2637C>A (p.Ser879Arg)
n.2606C>A
c.2301C>A (p.Ser767Arg)
c.2712C>A (p.Ser904Arg)
c.*2354C>A (n.*2354C>A)
n.2737C>A
c.168C>A (p.Ser56Arg)
c.2634C>A (p.Ser878Arg)
c.655+2649C>A (n.655+2649C>A)
c.1168-622C>A (n.1168-622C>A)
c.2565C>A (p.Ser855Arg)
c.2628C>A (p.Ser876Arg)
c.2616C>A (p.Ser872Arg)
2g.144398551C>ACA1898225ZEB2c.*2485G>T (n.*2485G>T)
c.1859G>T (p.Ser620Ile)
c.2636G>T (p.Ser879Ile)
n.2605G>T
c.2300G>T (p.Ser767Ile)
c.2711G>T (p.Ser904Ile)
c.*2353G>T (n.*2353G>T)
n.2736G>T
c.167G>T (p.Ser56Ile)
c.2633G>T (p.Ser878Ile)
c.655+2648G>T (n.655+2648G>T)
c.1168-623G>T (n.1168-623G>T)
c.2564G>T (p.Ser855Ile)
c.2627G>T (p.Ser876Ile)
c.2615G>T (p.Ser872Ile)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.144398551C=CA1294884938ZEB2c.*2485G= (n.*2485G=)
c.1859G= (p.Ser620=)
c.2636G= (p.Ser879=)
n.2605G=
c.2300G= (p.Ser767=)
c.2711G= (p.Ser904=)
c.*2353G= (n.*2353G=)
n.2736G=
c.167G= (p.Ser56=)
c.2633G= (p.Ser878=)
c.655+2648G= (n.655+2648G=)
c.1168-623G= (n.1168-623G=)
c.2564G= (p.Ser855=)
c.2627G= (p.Ser876=)
c.2615G= (p.Ser872=)
2g.144398551C>GCA348707663ZEB2c.*2485G>C (n.*2485G>C)
c.1859G>C (p.Ser620Thr)
c.2636G>C (p.Ser879Thr)
n.2605G>C
c.2300G>C (p.Ser767Thr)
c.2711G>C (p.Ser904Thr)
c.*2353G>C (n.*2353G>C)
n.2736G>C
c.167G>C (p.Ser56Thr)
c.2633G>C (p.Ser878Thr)
c.655+2648G>C (n.655+2648G>C)
c.1168-623G>C (n.1168-623G>C)
c.2564G>C (p.Ser855Thr)
c.2627G>C (p.Ser876Thr)
c.2615G>C (p.Ser872Thr)
2g.144398551C>TCA348707661ZEB2c.*2485G>A (n.*2485G>A)
c.1859G>A (p.Ser620Asn)
c.2636G>A (p.Ser879Asn)
n.2605G>A
c.2300G>A (p.Ser767Asn)
c.2711G>A (p.Ser904Asn)
c.*2353G>A (n.*2353G>A)
n.2736G>A
c.167G>A (p.Ser56Asn)
c.2633G>A (p.Ser878Asn)
c.655+2648G>A (n.655+2648G>A)
c.1168-623G>A (n.1168-623G>A)
c.2564G>A (p.Ser855Asn)
c.2627G>A (p.Ser876Asn)
c.2615G>A (p.Ser872Asn)
gnomAD v4
2g.144398552T>ACA348707666ZEB2c.*2484A>T (n.*2484A>T)
c.1858A>T (p.Ser620Cys)
c.2635A>T (p.Ser879Cys)
n.2604A>T
c.2299A>T (p.Ser767Cys)
c.2710A>T (p.Ser904Cys)
c.*2352A>T (n.*2352A>T)
n.2735A>T
c.166A>T (p.Ser56Cys)
c.2632A>T (p.Ser878Cys)
c.655+2647A>T (n.655+2647A>T)
c.1168-624A>T (n.1168-624A>T)
c.2563A>T (p.Ser855Cys)
c.2626A>T (p.Ser876Cys)
c.2614A>T (p.Ser872Cys)
2g.144398552T>CCA348707668ZEB2c.*2484A>G (n.*2484A>G)
c.1858A>G (p.Ser620Gly)
c.2635A>G (p.Ser879Gly)
n.2604A>G
c.2299A>G (p.Ser767Gly)
c.2710A>G (p.Ser904Gly)
c.*2352A>G (n.*2352A>G)
n.2735A>G
c.166A>G (p.Ser56Gly)
c.2632A>G (p.Ser878Gly)
c.655+2647A>G (n.655+2647A>G)
c.1168-624A>G (n.1168-624A>G)
c.2563A>G (p.Ser855Gly)
c.2626A>G (p.Ser876Gly)
c.2614A>G (p.Ser872Gly)
2g.144398552T>GCA348707667ZEB2c.*2484A>C (n.*2484A>C)
c.1858A>C (p.Ser620Arg)
c.2635A>C (p.Ser879Arg)
n.2604A>C
c.2299A>C (p.Ser767Arg)
c.2710A>C (p.Ser904Arg)
c.*2352A>C (n.*2352A>C)
n.2735A>C
c.166A>C (p.Ser56Arg)
c.2632A>C (p.Ser878Arg)
c.655+2647A>C (n.655+2647A>C)
c.1168-624A>C (n.1168-624A>C)
c.2563A>C (p.Ser855Arg)
c.2626A>C (p.Ser876Arg)
c.2614A>C (p.Ser872Arg)
2g.144398555delCA2586970083ZEB2c.*2484del (n.*2484del)
c.1858del (p.Ser620AlafsTer8)
c.2635del (p.Ser879AlafsTer8)
n.2604del
c.2299del (p.Ser767AlafsTer8)
c.2710del (p.Ser904AlafsTer8)
c.*2352del (n.*2352del)
n.2735del
c.166del (p.Ser56AlafsTer8)
c.2632del (p.Ser878AlafsTer8)
c.655+2647del (n.655+2647del)
c.1168-624del (n.1168-624del)
c.2563del (p.Ser855AlafsTer8)
c.2626del (p.Ser876AlafsTer8)
c.2614del (p.Ser872AlafsTer8)
2g.144398553T>ACA348707671ZEB2c.*2483A>T (n.*2483A>T)
c.1857A>T (p.Lys619Asn)
c.2634A>T (p.Lys878Asn)
n.2603A>T
c.2298A>T (p.Lys766Asn)
c.2709A>T (p.Lys903Asn)
c.*2351A>T (n.*2351A>T)
n.2734A>T
c.165A>T (p.Lys55Asn)
c.2631A>T (p.Lys877Asn)
c.655+2646A>T (n.655+2646A>T)
c.1168-625A>T (n.1168-625A>T)
c.2562A>T (p.Lys854Asn)
c.2625A>T (p.Lys875Asn)
c.2613A>T (p.Lys871Asn)
2g.144398553T>CCA429445172ZEB2c.*2483A>G (n.*2483A>G)
c.1857A>G (p.Lys619=)
c.2634A>G (p.Lys878=)
n.2603A>G
c.2298A>G (p.Lys766=)
c.2709A>G (p.Lys903=)
c.*2351A>G (n.*2351A>G)
n.2734A>G
c.165A>G (p.Lys55=)
c.2631A>G (p.Lys877=)
c.655+2646A>G (n.655+2646A>G)
c.1168-625A>G (n.1168-625A>G)
c.2562A>G (p.Lys854=)
c.2625A>G (p.Lys875=)
c.2613A>G (p.Lys871=)
2g.144398553T>GCA348707672ZEB2c.*2483A>C (n.*2483A>C)
c.1857A>C (p.Lys619Asn)
c.2634A>C (p.Lys878Asn)
n.2603A>C
c.2298A>C (p.Lys766Asn)
c.2709A>C (p.Lys903Asn)
c.*2351A>C (n.*2351A>C)
n.2734A>C
c.165A>C (p.Lys55Asn)
c.2631A>C (p.Lys877Asn)
c.655+2646A>C (n.655+2646A>C)
c.1168-625A>C (n.1168-625A>C)
c.2562A>C (p.Lys854Asn)
c.2625A>C (p.Lys875Asn)
c.2613A>C (p.Lys871Asn)
2g.144398554T>ACA348707674ZEB2c.*2482A>T (n.*2482A>T)
c.1856A>T (p.Lys619Ile)
c.2633A>T (p.Lys878Ile)
n.2602A>T
c.2297A>T (p.Lys766Ile)
c.2708A>T (p.Lys903Ile)
c.*2350A>T (n.*2350A>T)
n.2733A>T
c.164A>T (p.Lys55Ile)
c.2630A>T (p.Lys877Ile)
c.655+2645A>T (n.655+2645A>T)
c.1168-626A>T (n.1168-626A>T)
c.2561A>T (p.Lys854Ile)
c.2624A>T (p.Lys875Ile)
c.2612A>T (p.Lys871Ile)
2g.144398554T>CCA348707676ZEB2c.*2482A>G (n.*2482A>G)
c.1856A>G (p.Lys619Arg)
c.2633A>G (p.Lys878Arg)
n.2602A>G
c.2297A>G (p.Lys766Arg)
c.2708A>G (p.Lys903Arg)
c.*2350A>G (n.*2350A>G)
n.2733A>G
c.164A>G (p.Lys55Arg)
c.2630A>G (p.Lys877Arg)
c.655+2645A>G (n.655+2645A>G)
c.1168-626A>G (n.1168-626A>G)
c.2561A>G (p.Lys854Arg)
c.2624A>G (p.Lys875Arg)
c.2612A>G (p.Lys871Arg)
gnomAD v3 gnomAD v4
2g.144398554T>GCA348707678ZEB2c.*2482A>C (n.*2482A>C)
c.1856A>C (p.Lys619Thr)
c.2633A>C (p.Lys878Thr)
n.2602A>C
c.2297A>C (p.Lys766Thr)
c.2708A>C (p.Lys903Thr)
c.*2350A>C (n.*2350A>C)
n.2733A>C
c.164A>C (p.Lys55Thr)
c.2630A>C (p.Lys877Thr)
c.655+2645A>C (n.655+2645A>C)
c.1168-626A>C (n.1168-626A>C)
c.2561A>C (p.Lys854Thr)
c.2624A>C (p.Lys875Thr)
c.2612A>C (p.Lys871Thr)
2g.144398558_144398560delCA429445174ZEB2c.*2480_*2482del (n.*2480_*2482del)
c.1854_1856del (p.Asn618del)
c.2631_2633del (p.Asn877del)
n.2600_2602del
c.2295_2297del (p.Asn765del)
c.2706_2708del (p.Asn902del)
c.*2348_*2350del (n.*2348_*2350del)
n.2731_2733del
c.162_164del (p.Asn54del)
c.2628_2630del (p.Asn876del)
c.655+2643_655+2645del (n.655+2643_655+2645del)
c.1168-628_1168-626del (n.1168-628_1168-626del)
c.2559_2561del (p.Asn853del)
c.2622_2624del (p.Asn874del)
c.2610_2612del (p.Asn870del)
2g.144398555T>ACA348707680ZEB2c.*2481A>T (n.*2481A>T)
c.1855A>T (p.Lys619Ter)
c.2632A>T (p.Lys878Ter)
n.2601A>T
c.2296A>T (p.Lys766Ter)
c.2707A>T (p.Lys903Ter)
c.*2349A>T (n.*2349A>T)
n.2732A>T
c.163A>T (p.Lys55Ter)
c.2629A>T (p.Lys877Ter)
c.655+2644A>T (n.655+2644A>T)
c.1168-627A>T (n.1168-627A>T)
c.2560A>T (p.Lys854Ter)
c.2623A>T (p.Lys875Ter)
c.2611A>T (p.Lys871Ter)
2g.144398555T>CCA348707681ZEB2c.*2481A>G (n.*2481A>G)
c.1855A>G (p.Lys619Glu)
c.2632A>G (p.Lys878Glu)
n.2601A>G
c.2296A>G (p.Lys766Glu)
c.2707A>G (p.Lys903Glu)
c.*2349A>G (n.*2349A>G)
n.2732A>G
c.163A>G (p.Lys55Glu)
c.2629A>G (p.Lys877Glu)
c.655+2644A>G (n.655+2644A>G)
c.1168-627A>G (n.1168-627A>G)
c.2560A>G (p.Lys854Glu)
c.2623A>G (p.Lys875Glu)
c.2611A>G (p.Lys871Glu)
dbSNP gnomAD v4
2g.144398555T>GCA348707682ZEB2c.*2481A>C (n.*2481A>C)
c.1855A>C (p.Lys619Gln)
c.2632A>C (p.Lys878Gln)
n.2601A>C
c.2296A>C (p.Lys766Gln)
c.2707A>C (p.Lys903Gln)
c.*2349A>C (n.*2349A>C)
n.2732A>C
c.163A>C (p.Lys55Gln)
c.2629A>C (p.Lys877Gln)
c.655+2644A>C (n.655+2644A>C)
c.1168-627A>C (n.1168-627A>C)
c.2560A>C (p.Lys854Gln)
c.2623A>C (p.Lys875Gln)
c.2611A>C (p.Lys871Gln)
2g.144398555T=CA1294884939ZEB2c.*2481A= (n.*2481A=)
c.1855A= (p.Lys619=)
c.2632A= (p.Lys878=)
n.2601A=
c.2296A= (p.Lys766=)
c.2707A= (p.Lys903=)
c.*2349A= (n.*2349A=)
n.2732A=
c.163A= (p.Lys55=)
c.2629A= (p.Lys877=)
c.655+2644A= (n.655+2644A=)
c.1168-627A= (n.1168-627A=)
c.2560A= (p.Lys854=)
c.2623A= (p.Lys875=)
c.2611A= (p.Lys871=)
2g.144398556G>ACA429445176ZEB2c.*2480C>T (n.*2480C>T)
c.1854C>T (p.Asn618=)
c.2631C>T (p.Asn877=)
n.2600C>T
c.2295C>T (p.Asn765=)
c.2706C>T (p.Asn902=)
c.*2348C>T (n.*2348C>T)
n.2731C>T
c.162C>T (p.Asn54=)
c.2628C>T (p.Asn876=)
c.655+2643C>T (n.655+2643C>T)
c.1168-628C>T (n.1168-628C>T)
c.2559C>T (p.Asn853=)
c.2622C>T (p.Asn874=)
c.2610C>T (p.Asn870=)
dbSNP gnomAD v3 gnomAD v4
2g.144398556G>CCA348707684ZEB2c.*2480C>G (n.*2480C>G)
c.1854C>G (p.Asn618Lys)
c.2631C>G (p.Asn877Lys)
n.2600C>G
c.2295C>G (p.Asn765Lys)
c.2706C>G (p.Asn902Lys)
c.*2348C>G (n.*2348C>G)
n.2731C>G
c.162C>G (p.Asn54Lys)
c.2628C>G (p.Asn876Lys)
c.655+2643C>G (n.655+2643C>G)
c.1168-628C>G (n.1168-628C>G)
c.2559C>G (p.Asn853Lys)
c.2622C>G (p.Asn874Lys)
c.2610C>G (p.Asn870Lys)
dbSNP gnomAD v2 gnomAD v4
2g.144398556G=CA1294884940ZEB2c.*2480C= (n.*2480C=)
c.1854C= (p.Asn618=)
c.2631C= (p.Asn877=)
n.2600C=
c.2295C= (p.Asn765=)
c.2706C= (p.Asn902=)
c.*2348C= (n.*2348C=)
n.2731C=
c.162C= (p.Asn54=)
c.2628C= (p.Asn876=)
c.655+2643C= (n.655+2643C=)
c.1168-628C= (n.1168-628C=)
c.2559C= (p.Asn853=)
c.2622C= (p.Asn874=)
c.2610C= (p.Asn870=)
2g.144398556G>TCA348707686ZEB2c.*2480C>A (n.*2480C>A)
c.1854C>A (p.Asn618Lys)
c.2631C>A (p.Asn877Lys)
n.2600C>A
c.2295C>A (p.Asn765Lys)
c.2706C>A (p.Asn902Lys)
c.*2348C>A (n.*2348C>A)
n.2731C>A
c.162C>A (p.Asn54Lys)
c.2628C>A (p.Asn876Lys)
c.655+2643C>A (n.655+2643C>A)
c.1168-628C>A (n.1168-628C>A)
c.2559C>A (p.Asn853Lys)
c.2622C>A (p.Asn874Lys)
c.2610C>A (p.Asn870Lys)
gnomAD v4
2g.144398557T>ACA348707688ZEB2c.*2479A>T (n.*2479A>T)
c.1853A>T (p.Asn618Ile)
c.2630A>T (p.Asn877Ile)
n.2599A>T
c.2294A>T (p.Asn765Ile)
c.2705A>T (p.Asn902Ile)
c.*2347A>T (n.*2347A>T)
n.2730A>T
c.161A>T (p.Asn54Ile)
c.2627A>T (p.Asn876Ile)
c.655+2642A>T (n.655+2642A>T)
c.1168-629A>T (n.1168-629A>T)
c.2558A>T (p.Asn853Ile)
c.2621A>T (p.Asn874Ile)
c.2609A>T (p.Asn870Ile)
2g.144398557T>CCA348707689ZEB2c.*2479A>G (n.*2479A>G)
c.1853A>G (p.Asn618Ser)
c.2630A>G (p.Asn877Ser)
n.2599A>G
c.2294A>G (p.Asn765Ser)
c.2705A>G (p.Asn902Ser)
c.*2347A>G (n.*2347A>G)
n.2730A>G
c.161A>G (p.Asn54Ser)
c.2627A>G (p.Asn876Ser)
c.655+2642A>G (n.655+2642A>G)
c.1168-629A>G (n.1168-629A>G)
c.2558A>G (p.Asn853Ser)
c.2621A>G (p.Asn874Ser)
c.2609A>G (p.Asn870Ser)
2g.144398557T>GCA348707691ZEB2c.*2479A>C (n.*2479A>C)
c.1853A>C (p.Asn618Thr)
c.2630A>C (p.Asn877Thr)
n.2599A>C
c.2294A>C (p.Asn765Thr)
c.2705A>C (p.Asn902Thr)
c.*2347A>C (n.*2347A>C)
n.2730A>C
c.161A>C (p.Asn54Thr)
c.2627A>C (p.Asn876Thr)
c.655+2642A>C (n.655+2642A>C)
c.1168-629A>C (n.1168-629A>C)
c.2558A>C (p.Asn853Thr)
c.2621A>C (p.Asn874Thr)
c.2609A>C (p.Asn870Thr)
2g.144398558dupCA2697551038ZEB2c.*2479dup (n.*2479dup)
c.1853dup (p.Asn618LysfsTer5)
c.2630dup (p.Asn877LysfsTer5)
n.2599dup
c.2294dup (p.Asn765LysfsTer5)
c.2705dup (p.Asn902LysfsTer5)
c.*2347dup (n.*2347dup)
n.2730dup
c.161dup (p.Asn54LysfsTer5)
c.2627dup (p.Asn876LysfsTer5)
c.655+2642dup (n.655+2642dup)
c.1168-629dup (n.1168-629dup)
c.2558dup (p.Asn853LysfsTer5)
c.2621dup (p.Asn874LysfsTer5)
c.2609dup (p.Asn870LysfsTer5)
ClinVar
2g.144398558T>ACA348707693ZEB2c.*2478A>T (n.*2478A>T)
c.1852A>T (p.Asn618Tyr)
c.2629A>T (p.Asn877Tyr)
n.2598A>T
c.2293A>T (p.Asn765Tyr)
c.2704A>T (p.Asn902Tyr)
c.*2346A>T (n.*2346A>T)
n.2729A>T
c.160A>T (p.Asn54Tyr)
c.2626A>T (p.Asn876Tyr)
c.655+2641A>T (n.655+2641A>T)
c.1168-630A>T (n.1168-630A>T)
c.2557A>T (p.Asn853Tyr)
c.2620A>T (p.Asn874Tyr)
c.2608A>T (p.Asn870Tyr)
2g.144398558T>CCA348707697ZEB2c.*2478A>G (n.*2478A>G)
c.1852A>G (p.Asn618Asp)
c.2629A>G (p.Asn877Asp)
n.2598A>G
c.2293A>G (p.Asn765Asp)
c.2704A>G (p.Asn902Asp)
c.*2346A>G (n.*2346A>G)
n.2729A>G
c.160A>G (p.Asn54Asp)
c.2626A>G (p.Asn876Asp)
c.655+2641A>G (n.655+2641A>G)
c.1168-630A>G (n.1168-630A>G)
c.2557A>G (p.Asn853Asp)
c.2620A>G (p.Asn874Asp)
c.2608A>G (p.Asn870Asp)
2g.144398558T>GCA348707695ZEB2c.*2478A>C (n.*2478A>C)
c.1852A>C (p.Asn618His)
c.2629A>C (p.Asn877His)
n.2598A>C
c.2293A>C (p.Asn765His)
c.2704A>C (p.Asn902His)
c.*2346A>C (n.*2346A>C)
n.2729A>C
c.160A>C (p.Asn54His)
c.2626A>C (p.Asn876His)
c.655+2641A>C (n.655+2641A>C)
c.1168-630A>C (n.1168-630A>C)
c.2557A>C (p.Asn853His)
c.2620A>C (p.Asn874His)
c.2608A>C (p.Asn870His)
2g.144398559delCA2580063841ZEB2c.*2477del (n.*2477del)
c.1851del (p.Asp617GlufsTer11)
c.2628del (p.Asp876GlufsTer11)
n.2597del
c.2292del (p.Asp764GlufsTer11)
c.2703del (p.Asp901GlufsTer11)
c.*2345del (n.*2345del)
n.2728del
c.159del (p.Asp53GlufsTer11)
c.2625del (p.Asp875GlufsTer11)
c.655+2640del (n.655+2640del)
c.1168-631del (n.1168-631del)
c.2556del (p.Asp852GlufsTer11)
c.2619del (p.Asp873GlufsTer11)
c.2607del (p.Asp869GlufsTer11)
2g.144398559G>ACA429445178ZEB2c.*2477C>T (n.*2477C>T)
c.1851C>T (p.Asp617=)
c.2628C>T (p.Asp876=)
n.2597C>T
c.2292C>T (p.Asp764=)
c.2703C>T (p.Asp901=)
c.*2345C>T (n.*2345C>T)
n.2728C>T
c.159C>T (p.Asp53=)
c.2625C>T (p.Asp875=)
c.655+2640C>T (n.655+2640C>T)
c.1168-631C>T (n.1168-631C>T)
c.2556C>T (p.Asp852=)
c.2619C>T (p.Asp873=)
c.2607C>T (p.Asp869=)
2g.144398559G>CCA348707699ZEB2c.*2477C>G (n.*2477C>G)
c.1851C>G (p.Asp617Glu)
c.2628C>G (p.Asp876Glu)
n.2597C>G
c.2292C>G (p.Asp764Glu)
c.2703C>G (p.Asp901Glu)
c.*2345C>G (n.*2345C>G)
n.2728C>G
c.159C>G (p.Asp53Glu)
c.2625C>G (p.Asp875Glu)
c.655+2640C>G (n.655+2640C>G)
c.1168-631C>G (n.1168-631C>G)
c.2556C>G (p.Asp852Glu)
c.2619C>G (p.Asp873Glu)
c.2607C>G (p.Asp869Glu)
2g.144398559G>TCA348707700ZEB2c.*2477C>A (n.*2477C>A)
c.1851C>A (p.Asp617Glu)
c.2628C>A (p.Asp876Glu)
n.2597C>A
c.2292C>A (p.Asp764Glu)
c.2703C>A (p.Asp901Glu)
c.*2345C>A (n.*2345C>A)
n.2728C>A
c.159C>A (p.Asp53Glu)
c.2625C>A (p.Asp875Glu)
c.655+2640C>A (n.655+2640C>A)
c.1168-631C>A (n.1168-631C>A)
c.2556C>A (p.Asp852Glu)
c.2619C>A (p.Asp873Glu)
c.2607C>A (p.Asp869Glu)
2g.144398560T>ACA348707702ZEB2c.*2476A>T (n.*2476A>T)
c.1850A>T (p.Asp617Val)
c.2627A>T (p.Asp876Val)
n.2596A>T
c.2291A>T (p.Asp764Val)
c.2702A>T (p.Asp901Val)
c.*2344A>T (n.*2344A>T)
n.2727A>T
c.158A>T (p.Asp53Val)
c.2624A>T (p.Asp875Val)
c.655+2639A>T (n.655+2639A>T)
c.1168-632A>T (n.1168-632A>T)
c.2555A>T (p.Asp852Val)
c.2618A>T (p.Asp873Val)
c.2606A>T (p.Asp869Val)
gnomAD v4
2g.144398560T>CCA1898226ZEB2c.*2476A>G (n.*2476A>G)
c.1850A>G (p.Asp617Gly)
c.2627A>G (p.Asp876Gly)
n.2596A>G
c.2291A>G (p.Asp764Gly)
c.2702A>G (p.Asp901Gly)
c.*2344A>G (n.*2344A>G)
n.2727A>G
c.158A>G (p.Asp53Gly)
c.2624A>G (p.Asp875Gly)
c.655+2639A>G (n.655+2639A>G)
c.1168-632A>G (n.1168-632A>G)
c.2555A>G (p.Asp852Gly)
c.2618A>G (p.Asp873Gly)
c.2606A>G (p.Asp869Gly)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.144398560T>GCA348707703ZEB2c.*2476A>C (n.*2476A>C)
c.1850A>C (p.Asp617Ala)
c.2627A>C (p.Asp876Ala)
n.2596A>C
c.2291A>C (p.Asp764Ala)
c.2702A>C (p.Asp901Ala)
c.*2344A>C (n.*2344A>C)
n.2727A>C
c.158A>C (p.Asp53Ala)
c.2624A>C (p.Asp875Ala)
c.655+2639A>C (n.655+2639A>C)
c.1168-632A>C (n.1168-632A>C)
c.2555A>C (p.Asp852Ala)
c.2618A>C (p.Asp873Ala)
c.2606A>C (p.Asp869Ala)
2g.144398560T=CA1294884941ZEB2c.*2476A= (n.*2476A=)
c.1850A= (p.Asp617=)
c.2627A= (p.Asp876=)
n.2596A=
c.2291A= (p.Asp764=)
c.2702A= (p.Asp901=)
c.*2344A= (n.*2344A=)
n.2727A=
c.158A= (p.Asp53=)
c.2624A= (p.Asp875=)
c.655+2639A= (n.655+2639A=)
c.1168-632A= (n.1168-632A=)
c.2555A= (p.Asp852=)
c.2618A= (p.Asp873=)
c.2606A= (p.Asp869=)
2g.144398561C>ACA348707705ZEB2c.*2475G>T (n.*2475G>T)
c.1849G>T (p.Asp617Tyr)
c.2626G>T (p.Asp876Tyr)
n.2595G>T
c.2290G>T (p.Asp764Tyr)
c.2701G>T (p.Asp901Tyr)
c.*2343G>T (n.*2343G>T)
n.2726G>T
c.157G>T (p.Asp53Tyr)
c.2623G>T (p.Asp875Tyr)
c.655+2638G>T (n.655+2638G>T)
c.1168-633G>T (n.1168-633G>T)
c.2554G>T (p.Asp852Tyr)
c.2617G>T (p.Asp873Tyr)
c.2605G>T (p.Asp869Tyr)
gnomAD v4
2g.144398561C>GCA348707707ZEB2c.*2475G>C (n.*2475G>C)
c.1849G>C (p.Asp617His)
c.2626G>C (p.Asp876His)
n.2595G>C
c.2290G>C (p.Asp764His)
c.2701G>C (p.Asp901His)
c.*2343G>C (n.*2343G>C)
n.2726G>C
c.157G>C (p.Asp53His)
c.2623G>C (p.Asp875His)
c.655+2638G>C (n.655+2638G>C)
c.1168-633G>C (n.1168-633G>C)
c.2554G>C (p.Asp852His)
c.2617G>C (p.Asp873His)
c.2605G>C (p.Asp869His)
2g.144398561C>TCA348707709ZEB2c.*2475G>A (n.*2475G>A)
c.1849G>A (p.Asp617Asn)
c.2626G>A (p.Asp876Asn)
n.2595G>A
c.2290G>A (p.Asp764Asn)
c.2701G>A (p.Asp901Asn)
c.*2343G>A (n.*2343G>A)
n.2726G>A
c.157G>A (p.Asp53Asn)
c.2623G>A (p.Asp875Asn)
c.655+2638G>A (n.655+2638G>A)
c.1168-633G>A (n.1168-633G>A)
c.2554G>A (p.Asp852Asn)
c.2617G>A (p.Asp873Asn)
c.2605G>A (p.Asp869Asn)
2g.144398562C>ACA429445196ZEB2c.*2474G>T (n.*2474G>T)
c.1848G>T (p.Leu616=)
c.2625G>T (p.Leu875=)
n.2594G>T
c.2289G>T (p.Leu763=)
c.2700G>T (p.Leu900=)
c.*2342G>T (n.*2342G>T)
n.2725G>T
c.156G>T (p.Leu52=)
c.2622G>T (p.Leu874=)
c.655+2637G>T (n.655+2637G>T)
c.1168-634G>T (n.1168-634G>T)
c.2553G>T (p.Leu851=)
c.2616G>T (p.Leu872=)
c.2604G>T (p.Leu868=)
COSMIC
2g.144398562C>GCA429445194ZEB2c.*2474G>C (n.*2474G>C)
c.1848G>C (p.Leu616=)
c.2625G>C (p.Leu875=)
n.2594G>C
c.2289G>C (p.Leu763=)
c.2700G>C (p.Leu900=)
c.*2342G>C (n.*2342G>C)
n.2725G>C
c.156G>C (p.Leu52=)
c.2622G>C (p.Leu874=)
c.655+2637G>C (n.655+2637G>C)
c.1168-634G>C (n.1168-634G>C)
c.2553G>C (p.Leu851=)
c.2616G>C (p.Leu872=)
c.2604G>C (p.Leu868=)
2g.144398562C>TCA429445191ZEB2c.*2474G>A (n.*2474G>A)
c.1848G>A (p.Leu616=)
c.2625G>A (p.Leu875=)
n.2594G>A
c.2289G>A (p.Leu763=)
c.2700G>A (p.Leu900=)
c.*2342G>A (n.*2342G>A)
n.2725G>A
c.156G>A (p.Leu52=)
c.2622G>A (p.Leu874=)
c.655+2637G>A (n.655+2637G>A)
c.1168-634G>A (n.1168-634G>A)
c.2553G>A (p.Leu851=)
c.2616G>A (p.Leu872=)
c.2604G>A (p.Leu868=)
2g.144398562_144398563delCA2586970084ZEB2c.*2473_*2474del (n.*2473_*2474del)
c.1847_1848del (p.Leu616ArgfsTer6)
c.2624_2625del (p.Leu875ArgfsTer6)
n.2593_2594del
c.2288_2289del (p.Leu763ArgfsTer6)
c.2699_2700del (p.Leu900ArgfsTer6)
c.*2341_*2342del (n.*2341_*2342del)
n.2724_2725del
c.155_156del (p.Leu52ArgfsTer6)
c.2621_2622del (p.Leu874ArgfsTer6)
c.655+2636_655+2637del (n.655+2636_655+2637del)
c.1168-635_1168-634del (n.1168-635_1168-634del)
c.2552_2553del (p.Leu851ArgfsTer6)
c.2615_2616del (p.Leu872ArgfsTer6)
c.2603_2604del (p.Leu868ArgfsTer6)
2g.144398563A=CA1294884942ZEB2c.*2473T= (n.*2473T=)
c.1847T= (p.Leu616=)
c.2624T= (p.Leu875=)
n.2593T=
c.2288T= (p.Leu763=)
c.2699T= (p.Leu900=)
c.*2341T= (n.*2341T=)
n.2724T=
c.155T= (p.Leu52=)
c.2621T= (p.Leu874=)
c.655+2636T= (n.655+2636T=)
c.1168-635T= (n.1168-635T=)
c.2552T= (p.Leu851=)
c.2615T= (p.Leu872=)
c.2603T= (p.Leu868=)
2g.144398563A>CCA297611ZEB2c.*2473T>G (n.*2473T>G)
c.1847T>G (p.Leu616Arg)
c.2624T>G (p.Leu875Arg)
n.2593T>G
c.2288T>G (p.Leu763Arg)
c.2699T>G (p.Leu900Arg)
c.*2341T>G (n.*2341T>G)
n.2724T>G
c.155T>G (p.Leu52Arg)
c.2621T>G (p.Leu874Arg)
c.655+2636T>G (n.655+2636T>G)
c.1168-635T>G (n.1168-635T>G)
c.2552T>G (p.Leu851Arg)
c.2615T>G (p.Leu872Arg)
c.2603T>G (p.Leu868Arg)
ClinVar dbSNP
2g.144398563A>GCA348707712ZEB2c.*2473T>C (n.*2473T>C)
c.1847T>C (p.Leu616Pro)
c.2624T>C (p.Leu875Pro)
n.2593T>C
c.2288T>C (p.Leu763Pro)
c.2699T>C (p.Leu900Pro)
c.*2341T>C (n.*2341T>C)
n.2724T>C
c.155T>C (p.Leu52Pro)
c.2621T>C (p.Leu874Pro)
c.655+2636T>C (n.655+2636T>C)
c.1168-635T>C (n.1168-635T>C)
c.2552T>C (p.Leu851Pro)
c.2615T>C (p.Leu872Pro)
c.2603T>C (p.Leu868Pro)
2g.144398563A>TCA348707714ZEB2c.*2473T>A (n.*2473T>A)
c.1847T>A (p.Leu616Gln)
c.2624T>A (p.Leu875Gln)
n.2593T>A
c.2288T>A (p.Leu763Gln)
c.2699T>A (p.Leu900Gln)
c.*2341T>A (n.*2341T>A)
n.2724T>A
c.155T>A (p.Leu52Gln)
c.2621T>A (p.Leu874Gln)
c.655+2636T>A (n.655+2636T>A)
c.1168-635T>A (n.1168-635T>A)
c.2552T>A (p.Leu851Gln)
c.2615T>A (p.Leu872Gln)
c.2603T>A (p.Leu868Gln)
2g.144398564G>ACA429445202ZEB2c.*2472C>T (n.*2472C>T)
c.1846C>T (p.Leu616=)
c.2623C>T (p.Leu875=)
n.2592C>T
c.2287C>T (p.Leu763=)
c.2698C>T (p.Leu900=)
c.*2340C>T (n.*2340C>T)
n.2723C>T
c.154C>T (p.Leu52=)
c.2620C>T (p.Leu874=)
c.655+2635C>T (n.655+2635C>T)
c.1168-636C>T (n.1168-636C>T)
c.2551C>T (p.Leu851=)
c.2614C>T (p.Leu872=)
c.2602C>T (p.Leu868=)
dbSNP gnomAD v2 gnomAD v4
2g.144398564G>CCA348707716ZEB2c.*2472C>G (n.*2472C>G)
c.1846C>G (p.Leu616Val)
c.2623C>G (p.Leu875Val)
n.2592C>G
c.2287C>G (p.Leu763Val)
c.2698C>G (p.Leu900Val)
c.*2340C>G (n.*2340C>G)
n.2723C>G
c.154C>G (p.Leu52Val)
c.2620C>G (p.Leu874Val)
c.655+2635C>G (n.655+2635C>G)
c.1168-636C>G (n.1168-636C>G)
c.2551C>G (p.Leu851Val)
c.2614C>G (p.Leu872Val)
c.2602C>G (p.Leu868Val)
2g.144398564G=CA1294884943ZEB2c.*2472C= (n.*2472C=)
c.1846C= (p.Leu616=)
c.2623C= (p.Leu875=)
n.2592C=
c.2287C= (p.Leu763=)
c.2698C= (p.Leu900=)
c.*2340C= (n.*2340C=)
n.2723C=
c.154C= (p.Leu52=)
c.2620C= (p.Leu874=)
c.655+2635C= (n.655+2635C=)
c.1168-636C= (n.1168-636C=)
c.2551C= (p.Leu851=)
c.2614C= (p.Leu872=)
c.2602C= (p.Leu868=)
2g.144398564G>TCA348707718ZEB2c.*2472C>A (n.*2472C>A)
c.1846C>A (p.Leu616Met)
c.2623C>A (p.Leu875Met)
n.2592C>A
c.2287C>A (p.Leu763Met)
c.2698C>A (p.Leu900Met)
c.*2340C>A (n.*2340C>A)
n.2723C>A
c.154C>A (p.Leu52Met)
c.2620C>A (p.Leu874Met)
c.655+2635C>A (n.655+2635C>A)
c.1168-636C>A (n.1168-636C>A)
c.2551C>A (p.Leu851Met)
c.2614C>A (p.Leu872Met)
c.2602C>A (p.Leu868Met)
2g.144398565A=CA1294884944ZEB2c.*2471T= (n.*2471T=)
c.1845T= (p.Asn615=)
c.2622T= (p.Asn874=)
n.2591T=
c.2286T= (p.Asn762=)
c.2697T= (p.Asn899=)
c.*2339T= (n.*2339T=)
n.2722T=
c.153T= (p.Asn51=)
c.2619T= (p.Asn873=)
c.655+2634T= (n.655+2634T=)
c.1168-637T= (n.1168-637T=)
c.2550T= (p.Asn850=)
c.2613T= (p.Asn871=)
c.2601T= (p.Asn867=)
2g.144398565A>CCA348707720ZEB2c.*2471T>G (n.*2471T>G)
c.1845T>G (p.Asn615Lys)
c.2622T>G (p.Asn874Lys)
n.2591T>G
c.2286T>G (p.Asn762Lys)
c.2697T>G (p.Asn899Lys)
c.*2339T>G (n.*2339T>G)
n.2722T>G
c.153T>G (p.Asn51Lys)
c.2619T>G (p.Asn873Lys)
c.655+2634T>G (n.655+2634T>G)
c.1168-637T>G (n.1168-637T>G)
c.2550T>G (p.Asn850Lys)
c.2613T>G (p.Asn871Lys)
c.2601T>G (p.Asn867Lys)
gnomAD v4
2g.144398565A>GCA429445206ZEB2c.*2471T>C (n.*2471T>C)
c.1845T>C (p.Asn615=)
c.2622T>C (p.Asn874=)
n.2591T>C
c.2286T>C (p.Asn762=)
c.2697T>C (p.Asn899=)
c.*2339T>C (n.*2339T>C)
n.2722T>C
c.153T>C (p.Asn51=)
c.2619T>C (p.Asn873=)
c.655+2634T>C (n.655+2634T>C)
c.1168-637T>C (n.1168-637T>C)
c.2550T>C (p.Asn850=)
c.2613T>C (p.Asn871=)
c.2601T>C (p.Asn867=)
ClinVar dbSNP
2g.144398565A>TCA1898227ZEB2c.*2471T>A (n.*2471T>A)
c.1845T>A (p.Asn615Lys)
c.2622T>A (p.Asn874Lys)
n.2591T>A
c.2286T>A (p.Asn762Lys)
c.2697T>A (p.Asn899Lys)
c.*2339T>A (n.*2339T>A)
n.2722T>A
c.153T>A (p.Asn51Lys)
c.2619T>A (p.Asn873Lys)
c.655+2634T>A (n.655+2634T>A)
c.1168-637T>A (n.1168-637T>A)
c.2550T>A (p.Asn850Lys)
c.2613T>A (p.Asn871Lys)
c.2601T>A (p.Asn867Lys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched