Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.144398312G>ACA348706533ZEB2c.*2724C>T (n.*2724C>T)
c.2098C>T (p.Gln700Ter)
c.2875C>T (p.Gln959Ter)
n.2844C>T
c.2539C>T (p.Gln847Ter)
c.2950C>T (p.Gln984Ter)
c.*2592C>T (n.*2592C>T)
n.2975C>T
c.7C>T (p.Gln3Ter)
c.406C>T (p.Gln136Ter)
c.2872C>T (p.Gln958Ter)
c.655+2887C>T (n.655+2887C>T)
c.1168-384C>T (n.1168-384C>T)
c.2803C>T (p.Gln935Ter)
c.2866C>T (p.Gln956Ter)
c.2854C>T (p.Gln952Ter)
2g.144398312G>CCA348706534ZEB2c.*2724C>G (n.*2724C>G)
c.2098C>G (p.Gln700Glu)
c.2875C>G (p.Gln959Glu)
n.2844C>G
c.2539C>G (p.Gln847Glu)
c.2950C>G (p.Gln984Glu)
c.*2592C>G (n.*2592C>G)
n.2975C>G
c.7C>G (p.Gln3Glu)
c.406C>G (p.Gln136Glu)
c.2872C>G (p.Gln958Glu)
c.655+2887C>G (n.655+2887C>G)
c.1168-384C>G (n.1168-384C>G)
c.2803C>G (p.Gln935Glu)
c.2866C>G (p.Gln956Glu)
c.2854C>G (p.Gln952Glu)
2g.144398312G>TCA348706535ZEB2c.*2724C>A (n.*2724C>A)
c.2098C>A (p.Gln700Lys)
c.2875C>A (p.Gln959Lys)
n.2844C>A
c.2539C>A (p.Gln847Lys)
c.2950C>A (p.Gln984Lys)
c.*2592C>A (n.*2592C>A)
n.2975C>A
c.7C>A (p.Gln3Lys)
c.406C>A (p.Gln136Lys)
c.2872C>A (p.Gln958Lys)
c.655+2887C>A (n.655+2887C>A)
c.1168-384C>A (n.1168-384C>A)
c.2803C>A (p.Gln935Lys)
c.2866C>A (p.Gln956Lys)
c.2854C>A (p.Gln952Lys)
2g.144398313T>ACA348706536ZEB2c.*2723A>T (n.*2723A>T)
c.2097A>T (p.Lys699Asn)
c.2874A>T (p.Lys958Asn)
n.2843A>T
c.2538A>T (p.Lys846Asn)
c.2949A>T (p.Lys983Asn)
c.*2591A>T (n.*2591A>T)
n.2974A>T
c.6A>T (p.Lys2Asn)
c.405A>T (p.Lys135Asn)
c.2871A>T (p.Lys957Asn)
c.655+2886A>T (n.655+2886A>T)
c.1168-385A>T (n.1168-385A>T)
c.2802A>T (p.Lys934Asn)
c.2865A>T (p.Lys955Asn)
c.2853A>T (p.Lys951Asn)
2g.144398313T>CCA1898205ZEB2c.*2723A>G (n.*2723A>G)
c.2097A>G (p.Lys699=)
c.2874A>G (p.Lys958=)
n.2843A>G
c.2538A>G (p.Lys846=)
c.2949A>G (p.Lys983=)
c.*2591A>G (n.*2591A>G)
n.2974A>G
c.6A>G (p.Lys2=)
c.405A>G (p.Lys135=)
c.2871A>G (p.Lys957=)
c.655+2886A>G (n.655+2886A>G)
c.1168-385A>G (n.1168-385A>G)
c.2802A>G (p.Lys934=)
c.2865A>G (p.Lys955=)
c.2853A>G (p.Lys951=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.144398313T>GCA348706537ZEB2c.*2723A>C (n.*2723A>C)
c.2097A>C (p.Lys699Asn)
c.2874A>C (p.Lys958Asn)
n.2843A>C
c.2538A>C (p.Lys846Asn)
c.2949A>C (p.Lys983Asn)
c.*2591A>C (n.*2591A>C)
n.2974A>C
c.6A>C (p.Lys2Asn)
c.405A>C (p.Lys135Asn)
c.2871A>C (p.Lys957Asn)
c.655+2886A>C (n.655+2886A>C)
c.1168-385A>C (n.1168-385A>C)
c.2802A>C (p.Lys934Asn)
c.2865A>C (p.Lys955Asn)
c.2853A>C (p.Lys951Asn)
2g.144398313T=CA1294884847ZEB2c.*2723A= (n.*2723A=)
c.2097A= (p.Lys699=)
c.2874A= (p.Lys958=)
n.2843A=
c.2538A= (p.Lys846=)
c.2949A= (p.Lys983=)
c.*2591A= (n.*2591A=)
n.2974A=
c.6A= (p.Lys2=)
c.405A= (p.Lys135=)
c.2871A= (p.Lys957=)
c.655+2886A= (n.655+2886A=)
c.1168-385A= (n.1168-385A=)
c.2802A= (p.Lys934=)
c.2865A= (p.Lys955=)
c.2853A= (p.Lys951=)
2g.144398314T>ACA348706538ZEB2c.*2722A>T (n.*2722A>T)
c.2096A>T (p.Lys699Ile)
c.2873A>T (p.Lys958Ile)
n.2842A>T
c.2537A>T (p.Lys846Ile)
c.2948A>T (p.Lys983Ile)
c.*2590A>T (n.*2590A>T)
n.2973A>T
c.5A>T (p.Lys2Ile)
c.404A>T (p.Lys135Ile)
c.2870A>T (p.Lys957Ile)
c.655+2885A>T (n.655+2885A>T)
c.1168-386A>T (n.1168-386A>T)
c.2801A>T (p.Lys934Ile)
c.2864A>T (p.Lys955Ile)
c.2852A>T (p.Lys951Ile)
2g.144398314T>CCA348706539ZEB2c.*2722A>G (n.*2722A>G)
c.2096A>G (p.Lys699Arg)
c.2873A>G (p.Lys958Arg)
n.2842A>G
c.2537A>G (p.Lys846Arg)
c.2948A>G (p.Lys983Arg)
c.*2590A>G (n.*2590A>G)
n.2973A>G
c.5A>G (p.Lys2Arg)
c.404A>G (p.Lys135Arg)
c.2870A>G (p.Lys957Arg)
c.655+2885A>G (n.655+2885A>G)
c.1168-386A>G (n.1168-386A>G)
c.2801A>G (p.Lys934Arg)
c.2864A>G (p.Lys955Arg)
c.2852A>G (p.Lys951Arg)
2g.144398314T>GCA348706540ZEB2c.*2722A>C (n.*2722A>C)
c.2096A>C (p.Lys699Thr)
c.2873A>C (p.Lys958Thr)
n.2842A>C
c.2537A>C (p.Lys846Thr)
c.2948A>C (p.Lys983Thr)
c.*2590A>C (n.*2590A>C)
n.2973A>C
c.5A>C (p.Lys2Thr)
c.404A>C (p.Lys135Thr)
c.2870A>C (p.Lys957Thr)
c.655+2885A>C (n.655+2885A>C)
c.1168-386A>C (n.1168-386A>C)
c.2801A>C (p.Lys934Thr)
c.2864A>C (p.Lys955Thr)
c.2852A>C (p.Lys951Thr)
2g.144398315T>ACA348706543ZEB2c.*2721A>T (n.*2721A>T)
c.2095A>T (p.Lys699Ter)
c.2872A>T (p.Lys958Ter)
n.2841A>T
c.2536A>T (p.Lys846Ter)
c.2947A>T (p.Lys983Ter)
c.*2589A>T (n.*2589A>T)
n.2972A>T
c.4A>T (p.Lys2Ter)
c.403A>T (p.Lys135Ter)
c.2869A>T (p.Lys957Ter)
c.655+2884A>T (n.655+2884A>T)
c.1168-387A>T (n.1168-387A>T)
c.2800A>T (p.Lys934Ter)
c.2863A>T (p.Lys955Ter)
c.2851A>T (p.Lys951Ter)
2g.144398315T>CCA348706542ZEB2c.*2721A>G (n.*2721A>G)
c.2095A>G (p.Lys699Glu)
c.2872A>G (p.Lys958Glu)
n.2841A>G
c.2536A>G (p.Lys846Glu)
c.2947A>G (p.Lys983Glu)
c.*2589A>G (n.*2589A>G)
n.2972A>G
c.4A>G (p.Lys2Glu)
c.403A>G (p.Lys135Glu)
c.2869A>G (p.Lys957Glu)
c.655+2884A>G (n.655+2884A>G)
c.1168-387A>G (n.1168-387A>G)
c.2800A>G (p.Lys934Glu)
c.2863A>G (p.Lys955Glu)
c.2851A>G (p.Lys951Glu)
2g.144398315T>GCA348706541ZEB2c.*2721A>C (n.*2721A>C)
c.2095A>C (p.Lys699Gln)
c.2872A>C (p.Lys958Gln)
n.2841A>C
c.2536A>C (p.Lys846Gln)
c.2947A>C (p.Lys983Gln)
c.*2589A>C (n.*2589A>C)
n.2972A>C
c.4A>C (p.Lys2Gln)
c.403A>C (p.Lys135Gln)
c.2869A>C (p.Lys957Gln)
c.655+2884A>C (n.655+2884A>C)
c.1168-387A>C (n.1168-387A>C)
c.2800A>C (p.Lys934Gln)
c.2863A>C (p.Lys955Gln)
c.2851A>C (p.Lys951Gln)
2g.144398316C>ACA429444969ZEB2c.*2720G>T (n.*2720G>T)
c.2094G>T (p.Arg698=)
c.2871G>T (p.Arg957=)
n.2840G>T
c.2535G>T (p.Arg845=)
c.2946G>T (p.Arg982=)
c.*2588G>T (n.*2588G>T)
n.2971G>T
c.3G>T (p.Arg1=)
c.402G>T (p.Arg134=)
c.2868G>T (p.Arg956=)
c.655+2883G>T (n.655+2883G>T)
c.1168-388G>T (n.1168-388G>T)
c.2799G>T (p.Arg933=)
c.2862G>T (p.Arg954=)
c.2850G>T (p.Arg950=)
2g.144398316C>GCA429444970ZEB2c.*2720G>C (n.*2720G>C)
c.2094G>C (p.Arg698=)
c.2871G>C (p.Arg957=)
n.2840G>C
c.2535G>C (p.Arg845=)
c.2946G>C (p.Arg982=)
c.*2588G>C (n.*2588G>C)
n.2971G>C
c.3G>C (p.Arg1=)
c.402G>C (p.Arg134=)
c.2868G>C (p.Arg956=)
c.655+2883G>C (n.655+2883G>C)
c.1168-388G>C (n.1168-388G>C)
c.2799G>C (p.Arg933=)
c.2862G>C (p.Arg954=)
c.2850G>C (p.Arg950=)
2g.144398316C>TCA429444971ZEB2c.*2720G>A (n.*2720G>A)
c.2094G>A (p.Arg698=)
c.2871G>A (p.Arg957=)
n.2840G>A
c.2535G>A (p.Arg845=)
c.2946G>A (p.Arg982=)
c.*2588G>A (n.*2588G>A)
n.2971G>A
c.3G>A (p.Arg1=)
c.402G>A (p.Arg134=)
c.2868G>A (p.Arg956=)
c.655+2883G>A (n.655+2883G>A)
c.1168-388G>A (n.1168-388G>A)
c.2799G>A (p.Arg933=)
c.2862G>A (p.Arg954=)
c.2850G>A (p.Arg950=)
2g.144398317C>ACA348706544ZEB2c.*2719G>T (n.*2719G>T)
c.2093G>T (p.Arg698Leu)
c.2870G>T (p.Arg957Leu)
n.2839G>T
c.2534G>T (p.Arg845Leu)
c.2945G>T (p.Arg982Leu)
c.*2587G>T (n.*2587G>T)
n.2970G>T
c.2G>T (p.Arg1Leu)
c.401G>T (p.Arg134Leu)
c.2867G>T (p.Arg956Leu)
c.655+2882G>T (n.655+2882G>T)
c.1168-389G>T (n.1168-389G>T)
c.2798G>T (p.Arg933Leu)
c.2861G>T (p.Arg954Leu)
c.2849G>T (p.Arg950Leu)
 COSMIC
2g.144398317C=CA1294884848ZEB2c.*2719G= (n.*2719G=)
c.2093G= (p.Arg698=)
c.2870G= (p.Arg957=)
n.2839G=
c.2534G= (p.Arg845=)
c.2945G= (p.Arg982=)
c.*2587G= (n.*2587G=)
n.2970G=
c.2G= (p.Arg1=)
c.401G= (p.Arg134=)
c.2867G= (p.Arg956=)
c.655+2882G= (n.655+2882G=)
c.1168-389G= (n.1168-389G=)
c.2798G= (p.Arg933=)
c.2861G= (p.Arg954=)
c.2849G= (p.Arg950=)
2g.144398317C>GCA348706545ZEB2c.*2719G>C (n.*2719G>C)
c.2093G>C (p.Arg698Pro)
c.2870G>C (p.Arg957Pro)
n.2839G>C
c.2534G>C (p.Arg845Pro)
c.2945G>C (p.Arg982Pro)
c.*2587G>C (n.*2587G>C)
n.2970G>C
c.2G>C (p.Arg1Pro)
c.401G>C (p.Arg134Pro)
c.2867G>C (p.Arg956Pro)
c.655+2882G>C (n.655+2882G>C)
c.1168-389G>C (n.1168-389G>C)
c.2798G>C (p.Arg933Pro)
c.2861G>C (p.Arg954Pro)
c.2849G>C (p.Arg950Pro)
2g.144398317C>TCA235595ZEB2c.*2719G>A (n.*2719G>A)
c.2093G>A (p.Arg698Gln)
c.2870G>A (p.Arg957Gln)
n.2839G>A
c.2534G>A (p.Arg845Gln)
c.2945G>A (p.Arg982Gln)
c.*2587G>A (n.*2587G>A)
n.2970G>A
c.2G>A (p.Arg1Gln)
c.401G>A (p.Arg134Gln)
c.2867G>A (p.Arg956Gln)
c.655+2882G>A (n.655+2882G>A)
c.1168-389G>A (n.1168-389G>A)
c.2798G>A (p.Arg933Gln)
c.2861G>A (p.Arg954Gln)
c.2849G>A (p.Arg950Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.144398318G>ACA348706546ZEB2c.*2718C>T (n.*2718C>T)
c.2092C>T (p.Arg698Trp)
c.2869C>T (p.Arg957Trp)
n.2838C>T
c.2533C>T (p.Arg845Trp)
c.2944C>T (p.Arg982Trp)
c.*2586C>T (n.*2586C>T)
n.2969C>T
c.1C>T (p.Arg1Trp)
c.400C>T (p.Arg134Trp)
c.2866C>T (p.Arg956Trp)
c.655+2881C>T (n.655+2881C>T)
c.1168-390C>T (n.1168-390C>T)
c.2797C>T (p.Arg933Trp)
c.2860C>T (p.Arg954Trp)
c.2848C>T (p.Arg950Trp)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
2g.144398318G>CCA348706547ZEB2c.*2718C>G (n.*2718C>G)
c.2092C>G (p.Arg698Gly)
c.2869C>G (p.Arg957Gly)
n.2838C>G
c.2533C>G (p.Arg845Gly)
c.2944C>G (p.Arg982Gly)
c.*2586C>G (n.*2586C>G)
n.2969C>G
c.1C>G (p.Arg1Gly)
c.400C>G (p.Arg134Gly)
c.2866C>G (p.Arg956Gly)
c.655+2881C>G (n.655+2881C>G)
c.1168-390C>G (n.1168-390C>G)
c.2797C>G (p.Arg933Gly)
c.2860C>G (p.Arg954Gly)
c.2848C>G (p.Arg950Gly)
 gnomAD v4
2g.144398318G=CA1294884849ZEB2c.*2718C= (n.*2718C=)
c.2092C= (p.Arg698=)
c.2869C= (p.Arg957=)
n.2838C=
c.2533C= (p.Arg845=)
c.2944C= (p.Arg982=)
c.*2586C= (n.*2586C=)
n.2969C=
c.1C= (p.Arg1=)
c.400C= (p.Arg134=)
c.2866C= (p.Arg956=)
c.655+2881C= (n.655+2881C=)
c.1168-390C= (n.1168-390C=)
c.2797C= (p.Arg933=)
c.2860C= (p.Arg954=)
c.2848C= (p.Arg950=)
2g.144398318G>TCA429444972ZEB2c.*2718C>A (n.*2718C>A)
c.2092C>A (p.Arg698=)
c.2869C>A (p.Arg957=)
n.2838C>A
c.2533C>A (p.Arg845=)
c.2944C>A (p.Arg982=)
c.*2586C>A (n.*2586C>A)
n.2969C>A
c.1C>A (p.Arg1=)
c.400C>A (p.Arg134=)
c.2866C>A (p.Arg956=)
c.655+2881C>A (n.655+2881C>A)
c.1168-390C>A (n.1168-390C>A)
c.2797C>A (p.Arg933=)
c.2860C>A (p.Arg954=)
c.2848C>A (p.Arg950=)
2g.144398319C>ACA348706548ZEB2c.*2717G>T (n.*2717G>T)
c.2091G>T (p.Gln697His)
c.2868G>T (p.Gln956His)
n.2837G>T
c.2532G>T (p.Gln844His)
c.2943G>T (p.Gln981His)
c.*2585G>T (n.*2585G>T)
n.2968G>T
c.399G>T (p.Gln133His)
c.2865G>T (p.Gln955His)
c.655+2880G>T (n.655+2880G>T)
c.1168-391G>T (n.1168-391G>T)
c.2796G>T (p.Gln932His)
c.2859G>T (p.Gln953His)
c.2847G>T (p.Gln949His)
2g.144398319C=CA1294884850ZEB2c.*2717G= (n.*2717G=)
c.2091G= (p.Gln697=)
c.2868G= (p.Gln956=)
n.2837G=
c.2532G= (p.Gln844=)
c.2943G= (p.Gln981=)
c.*2585G= (n.*2585G=)
n.2968G=
c.399G= (p.Gln133=)
c.2865G= (p.Gln955=)
c.655+2880G= (n.655+2880G=)
c.1168-391G= (n.1168-391G=)
c.2796G= (p.Gln932=)
c.2859G= (p.Gln953=)
c.2847G= (p.Gln949=)
2g.144398319C>GCA348706549ZEB2c.*2717G>C (n.*2717G>C)
c.2091G>C (p.Gln697His)
c.2868G>C (p.Gln956His)
n.2837G>C
c.2532G>C (p.Gln844His)
c.2943G>C (p.Gln981His)
c.*2585G>C (n.*2585G>C)
n.2968G>C
c.399G>C (p.Gln133His)
c.2865G>C (p.Gln955His)
c.655+2880G>C (n.655+2880G>C)
c.1168-391G>C (n.1168-391G>C)
c.2796G>C (p.Gln932His)
c.2859G>C (p.Gln953His)
c.2847G>C (p.Gln949His)
2g.144398319C>TCA429444973ZEB2c.*2717G>A (n.*2717G>A)
c.2091G>A (p.Gln697=)
c.2868G>A (p.Gln956=)
n.2837G>A
c.2532G>A (p.Gln844=)
c.2943G>A (p.Gln981=)
c.*2585G>A (n.*2585G>A)
n.2968G>A
c.399G>A (p.Gln133=)
c.2865G>A (p.Gln955=)
c.655+2880G>A (n.655+2880G>A)
c.1168-391G>A (n.1168-391G>A)
c.2796G>A (p.Gln932=)
c.2859G>A (p.Gln953=)
c.2847G>A (p.Gln949=)
 dbSNP gnomAD v4
2g.144398320T>ACA348706550ZEB2c.*2716A>T (n.*2716A>T)
c.2090A>T (p.Gln697Leu)
c.2867A>T (p.Gln956Leu)
n.2836A>T
c.2531A>T (p.Gln844Leu)
c.2942A>T (p.Gln981Leu)
c.*2584A>T (n.*2584A>T)
n.2967A>T
c.398A>T (p.Gln133Leu)
c.2864A>T (p.Gln955Leu)
c.655+2879A>T (n.655+2879A>T)
c.1168-392A>T (n.1168-392A>T)
c.2795A>T (p.Gln932Leu)
c.2858A>T (p.Gln953Leu)
c.2846A>T (p.Gln949Leu)
2g.144398320T>CCA348706551ZEB2c.*2716A>G (n.*2716A>G)
c.2090A>G (p.Gln697Arg)
c.2867A>G (p.Gln956Arg)
n.2836A>G
c.2531A>G (p.Gln844Arg)
c.2942A>G (p.Gln981Arg)
c.*2584A>G (n.*2584A>G)
n.2967A>G
c.398A>G (p.Gln133Arg)
c.2864A>G (p.Gln955Arg)
c.655+2879A>G (n.655+2879A>G)
c.1168-392A>G (n.1168-392A>G)
c.2795A>G (p.Gln932Arg)
c.2858A>G (p.Gln953Arg)
c.2846A>G (p.Gln949Arg)
 gnomAD v4
2g.144398320T>GCA348706552ZEB2c.*2716A>C (n.*2716A>C)
c.2090A>C (p.Gln697Pro)
c.2867A>C (p.Gln956Pro)
n.2836A>C
c.2531A>C (p.Gln844Pro)
c.2942A>C (p.Gln981Pro)
c.*2584A>C (n.*2584A>C)
n.2967A>C
c.398A>C (p.Gln133Pro)
c.2864A>C (p.Gln955Pro)
c.655+2879A>C (n.655+2879A>C)
c.1168-392A>C (n.1168-392A>C)
c.2795A>C (p.Gln932Pro)
c.2858A>C (p.Gln953Pro)
c.2846A>C (p.Gln949Pro)
2g.144398321G>ACA348706553ZEB2c.*2715C>T (n.*2715C>T)
c.2089C>T (p.Gln697Ter)
c.2866C>T (p.Gln956Ter)
n.2835C>T
c.2530C>T (p.Gln844Ter)
c.2941C>T (p.Gln981Ter)
c.*2583C>T (n.*2583C>T)
n.2966C>T
c.397C>T (p.Gln133Ter)
c.2863C>T (p.Gln955Ter)
c.655+2878C>T (n.655+2878C>T)
c.1168-393C>T (n.1168-393C>T)
c.2794C>T (p.Gln932Ter)
c.2857C>T (p.Gln953Ter)
c.2845C>T (p.Gln949Ter)
 ClinVar
2g.144398321G>CCA348706554ZEB2c.*2715C>G (n.*2715C>G)
c.2089C>G (p.Gln697Glu)
c.2866C>G (p.Gln956Glu)
n.2835C>G
c.2530C>G (p.Gln844Glu)
c.2941C>G (p.Gln981Glu)
c.*2583C>G (n.*2583C>G)
n.2966C>G
c.397C>G (p.Gln133Glu)
c.2863C>G (p.Gln955Glu)
c.655+2878C>G (n.655+2878C>G)
c.1168-393C>G (n.1168-393C>G)
c.2794C>G (p.Gln932Glu)
c.2857C>G (p.Gln953Glu)
c.2845C>G (p.Gln949Glu)
2g.144398321G>TCA348706555ZEB2c.*2715C>A (n.*2715C>A)
c.2089C>A (p.Gln697Lys)
c.2866C>A (p.Gln956Lys)
n.2835C>A
c.2530C>A (p.Gln844Lys)
c.2941C>A (p.Gln981Lys)
c.*2583C>A (n.*2583C>A)
n.2966C>A
c.397C>A (p.Gln133Lys)
c.2863C>A (p.Gln955Lys)
c.655+2878C>A (n.655+2878C>A)
c.1168-393C>A (n.1168-393C>A)
c.2794C>A (p.Gln932Lys)
c.2857C>A (p.Gln953Lys)
c.2845C>A (p.Gln949Lys)
2g.144398322G>ACA429444977ZEB2c.*2714C>T (n.*2714C>T)
c.2088C>T (p.Tyr696=)
c.2865C>T (p.Tyr955=)
n.2834C>T
c.2529C>T (p.Tyr843=)
c.2940C>T (p.Tyr980=)
c.*2582C>T (n.*2582C>T)
n.2965C>T
c.396C>T (p.Tyr132=)
c.2862C>T (p.Tyr954=)
c.655+2877C>T (n.655+2877C>T)
c.1168-394C>T (n.1168-394C>T)
c.2793C>T (p.Tyr931=)
c.2856C>T (p.Tyr952=)
c.2844C>T (p.Tyr948=)
2g.144398322G>CCA348706556ZEB2c.*2714C>G (n.*2714C>G)
c.2088C>G (p.Tyr696Ter)
c.2865C>G (p.Tyr955Ter)
n.2834C>G
c.2529C>G (p.Tyr843Ter)
c.2940C>G (p.Tyr980Ter)
c.*2582C>G (n.*2582C>G)
n.2965C>G
c.396C>G (p.Tyr132Ter)
c.2862C>G (p.Tyr954Ter)
c.655+2877C>G (n.655+2877C>G)
c.1168-394C>G (n.1168-394C>G)
c.2793C>G (p.Tyr931Ter)
c.2856C>G (p.Tyr952Ter)
c.2844C>G (p.Tyr948Ter)
 ClinVar dbSNP
2g.144398322G>TCA348706557ZEB2c.*2714C>A (n.*2714C>A)
c.2088C>A (p.Tyr696Ter)
c.2865C>A (p.Tyr955Ter)
n.2834C>A
c.2529C>A (p.Tyr843Ter)
c.2940C>A (p.Tyr980Ter)
c.*2582C>A (n.*2582C>A)
n.2965C>A
c.396C>A (p.Tyr132Ter)
c.2862C>A (p.Tyr954Ter)
c.655+2877C>A (n.655+2877C>A)
c.1168-394C>A (n.1168-394C>A)
c.2793C>A (p.Tyr931Ter)
c.2856C>A (p.Tyr952Ter)
c.2844C>A (p.Tyr948Ter)
2g.144398323T>ACA348706558ZEB2c.*2713A>T (n.*2713A>T)
c.2087A>T (p.Tyr696Phe)
c.2864A>T (p.Tyr955Phe)
n.2833A>T
c.2528A>T (p.Tyr843Phe)
c.2939A>T (p.Tyr980Phe)
c.*2581A>T (n.*2581A>T)
n.2964A>T
c.395A>T (p.Tyr132Phe)
c.2861A>T (p.Tyr954Phe)
c.655+2876A>T (n.655+2876A>T)
c.1168-395A>T (n.1168-395A>T)
c.2792A>T (p.Tyr931Phe)
c.2855A>T (p.Tyr952Phe)
c.2843A>T (p.Tyr948Phe)
 gnomAD v4
2g.144398323T>CCA348706559ZEB2c.*2713A>G (n.*2713A>G)
c.2087A>G (p.Tyr696Cys)
c.2864A>G (p.Tyr955Cys)
n.2833A>G
c.2528A>G (p.Tyr843Cys)
c.2939A>G (p.Tyr980Cys)
c.*2581A>G (n.*2581A>G)
n.2964A>G
c.395A>G (p.Tyr132Cys)
c.2861A>G (p.Tyr954Cys)
c.655+2876A>G (n.655+2876A>G)
c.1168-395A>G (n.1168-395A>G)
c.2792A>G (p.Tyr931Cys)
c.2855A>G (p.Tyr952Cys)
c.2843A>G (p.Tyr948Cys)
2g.144398323T>GCA348706560ZEB2c.*2713A>C (n.*2713A>C)
c.2087A>C (p.Tyr696Ser)
c.2864A>C (p.Tyr955Ser)
n.2833A>C
c.2528A>C (p.Tyr843Ser)
c.2939A>C (p.Tyr980Ser)
c.*2581A>C (n.*2581A>C)
n.2964A>C
c.395A>C (p.Tyr132Ser)
c.2861A>C (p.Tyr954Ser)
c.655+2876A>C (n.655+2876A>C)
c.1168-395A>C (n.1168-395A>C)
c.2792A>C (p.Tyr931Ser)
c.2855A>C (p.Tyr952Ser)
c.2843A>C (p.Tyr948Ser)
2g.144398324A>CCA348706561ZEB2c.*2712T>G (n.*2712T>G)
c.2086T>G (p.Tyr696Asp)
c.2863T>G (p.Tyr955Asp)
n.2832T>G
c.2527T>G (p.Tyr843Asp)
c.2938T>G (p.Tyr980Asp)
c.*2580T>G (n.*2580T>G)
n.2963T>G
c.394T>G (p.Tyr132Asp)
c.2860T>G (p.Tyr954Asp)
c.655+2875T>G (n.655+2875T>G)
c.1168-396T>G (n.1168-396T>G)
c.2791T>G (p.Tyr931Asp)
c.2854T>G (p.Tyr952Asp)
c.2842T>G (p.Tyr948Asp)
2g.144398324A>GCA348706562ZEB2c.*2712T>C (n.*2712T>C)
c.2086T>C (p.Tyr696His)
c.2863T>C (p.Tyr955His)
n.2832T>C
c.2527T>C (p.Tyr843His)
c.2938T>C (p.Tyr980His)
c.*2580T>C (n.*2580T>C)
n.2963T>C
c.394T>C (p.Tyr132His)
c.2860T>C (p.Tyr954His)
c.655+2875T>C (n.655+2875T>C)
c.1168-396T>C (n.1168-396T>C)
c.2791T>C (p.Tyr931His)
c.2854T>C (p.Tyr952His)
c.2842T>C (p.Tyr948His)
 ClinVar
2g.144398324A>TCA348706563ZEB2c.*2712T>A (n.*2712T>A)
c.2086T>A (p.Tyr696Asn)
c.2863T>A (p.Tyr955Asn)
n.2832T>A
c.2527T>A (p.Tyr843Asn)
c.2938T>A (p.Tyr980Asn)
c.*2580T>A (n.*2580T>A)
n.2963T>A
c.394T>A (p.Tyr132Asn)
c.2860T>A (p.Tyr954Asn)
c.655+2875T>A (n.655+2875T>A)
c.1168-396T>A (n.1168-396T>A)
c.2791T>A (p.Tyr931Asn)
c.2854T>A (p.Tyr952Asn)
c.2842T>A (p.Tyr948Asn)
2g.144398325C>ACA348706564ZEB2c.*2711G>T (n.*2711G>T)
c.2085G>T (p.Lys695Asn)
c.2862G>T (p.Lys954Asn)
n.2831G>T
c.2526G>T (p.Lys842Asn)
c.2937G>T (p.Lys979Asn)
c.*2579G>T (n.*2579G>T)
n.2962G>T
c.393G>T (p.Lys131Asn)
c.2859G>T (p.Lys953Asn)
c.655+2874G>T (n.655+2874G>T)
c.1168-397G>T (n.1168-397G>T)
c.2790G>T (p.Lys930Asn)
c.2853G>T (p.Lys951Asn)
c.2841G>T (p.Lys947Asn)
 gnomAD v4 COSMIC
2g.144398325C>GCA348706565ZEB2c.*2711G>C (n.*2711G>C)
c.2085G>C (p.Lys695Asn)
c.2862G>C (p.Lys954Asn)
n.2831G>C
c.2526G>C (p.Lys842Asn)
c.2937G>C (p.Lys979Asn)
c.*2579G>C (n.*2579G>C)
n.2962G>C
c.393G>C (p.Lys131Asn)
c.2859G>C (p.Lys953Asn)
c.655+2874G>C (n.655+2874G>C)
c.1168-397G>C (n.1168-397G>C)
c.2790G>C (p.Lys930Asn)
c.2853G>C (p.Lys951Asn)
c.2841G>C (p.Lys947Asn)
2g.144398325C>TCA429444979ZEB2c.*2711G>A (n.*2711G>A)
c.2085G>A (p.Lys695=)
c.2862G>A (p.Lys954=)
n.2831G>A
c.2526G>A (p.Lys842=)
c.2937G>A (p.Lys979=)
c.*2579G>A (n.*2579G>A)
n.2962G>A
c.393G>A (p.Lys131=)
c.2859G>A (p.Lys953=)
c.655+2874G>A (n.655+2874G>A)
c.1168-397G>A (n.1168-397G>A)
c.2790G>A (p.Lys930=)
c.2853G>A (p.Lys951=)
c.2841G>A (p.Lys947=)
2g.144398326T>ACA348706566ZEB2c.*2710A>T (n.*2710A>T)
c.2084A>T (p.Lys695Met)
c.2861A>T (p.Lys954Met)
n.2830A>T
c.2525A>T (p.Lys842Met)
c.2936A>T (p.Lys979Met)
c.*2578A>T (n.*2578A>T)
n.2961A>T
c.392A>T (p.Lys131Met)
c.2858A>T (p.Lys953Met)
c.655+2873A>T (n.655+2873A>T)
c.1168-398A>T (n.1168-398A>T)
c.2789A>T (p.Lys930Met)
c.2852A>T (p.Lys951Met)
c.2840A>T (p.Lys947Met)
2g.144398326T>CCA348706567ZEB2c.*2710A>G (n.*2710A>G)
c.2084A>G (p.Lys695Arg)
c.2861A>G (p.Lys954Arg)
n.2830A>G
c.2525A>G (p.Lys842Arg)
c.2936A>G (p.Lys979Arg)
c.*2578A>G (n.*2578A>G)
n.2961A>G
c.392A>G (p.Lys131Arg)
c.2858A>G (p.Lys953Arg)
c.655+2873A>G (n.655+2873A>G)
c.1168-398A>G (n.1168-398A>G)
c.2789A>G (p.Lys930Arg)
c.2852A>G (p.Lys951Arg)
c.2840A>G (p.Lys947Arg)
2g.144398326T>GCA348706568ZEB2c.*2710A>C (n.*2710A>C)
c.2084A>C (p.Lys695Thr)
c.2861A>C (p.Lys954Thr)
n.2830A>C
c.2525A>C (p.Lys842Thr)
c.2936A>C (p.Lys979Thr)
c.*2578A>C (n.*2578A>C)
n.2961A>C
c.392A>C (p.Lys131Thr)
c.2858A>C (p.Lys953Thr)
c.655+2873A>C (n.655+2873A>C)
c.1168-398A>C (n.1168-398A>C)
c.2789A>C (p.Lys930Thr)
c.2852A>C (p.Lys951Thr)
c.2840A>C (p.Lys947Thr)
2g.144398327T>ACA348706569ZEB2c.*2709A>T (n.*2709A>T)
c.2083A>T (p.Lys695Ter)
c.2860A>T (p.Lys954Ter)
n.2829A>T
c.2524A>T (p.Lys842Ter)
c.2935A>T (p.Lys979Ter)
c.*2577A>T (n.*2577A>T)
n.2960A>T
c.391A>T (p.Lys131Ter)
c.2857A>T (p.Lys953Ter)
c.655+2872A>T (n.655+2872A>T)
c.1168-399A>T (n.1168-399A>T)
c.2788A>T (p.Lys930Ter)
c.2851A>T (p.Lys951Ter)
c.2839A>T (p.Lys947Ter)
2g.144398327T>CCA348706570ZEB2c.*2709A>G (n.*2709A>G)
c.2083A>G (p.Lys695Glu)
c.2860A>G (p.Lys954Glu)
n.2829A>G
c.2524A>G (p.Lys842Glu)
c.2935A>G (p.Lys979Glu)
c.*2577A>G (n.*2577A>G)
n.2960A>G
c.391A>G (p.Lys131Glu)
c.2857A>G (p.Lys953Glu)
c.655+2872A>G (n.655+2872A>G)
c.1168-399A>G (n.1168-399A>G)
c.2788A>G (p.Lys930Glu)
c.2851A>G (p.Lys951Glu)
c.2839A>G (p.Lys947Glu)
2g.144398327T>GCA348706571ZEB2c.*2709A>C (n.*2709A>C)
c.2083A>C (p.Lys695Gln)
c.2860A>C (p.Lys954Gln)
n.2829A>C
c.2524A>C (p.Lys842Gln)
c.2935A>C (p.Lys979Gln)
c.*2577A>C (n.*2577A>C)
n.2960A>C
c.391A>C (p.Lys131Gln)
c.2857A>C (p.Lys953Gln)
c.655+2872A>C (n.655+2872A>C)
c.1168-399A>C (n.1168-399A>C)
c.2788A>C (p.Lys930Gln)
c.2851A>C (p.Lys951Gln)
c.2839A>C (p.Lys947Gln)
2g.144398328T>ACA348706572ZEB2c.*2708A>T (n.*2708A>T)
c.2082A>T (p.Arg694Ser)
c.2859A>T (p.Arg953Ser)
n.2828A>T
c.2523A>T (p.Arg841Ser)
c.2934A>T (p.Arg978Ser)
c.*2576A>T (n.*2576A>T)
n.2959A>T
c.390A>T (p.Arg130Ser)
c.2856A>T (p.Arg952Ser)
c.655+2871A>T (n.655+2871A>T)
c.1168-400A>T (n.1168-400A>T)
c.2787A>T (p.Arg929Ser)
c.2850A>T (p.Arg950Ser)
c.2838A>T (p.Arg946Ser)
2g.144398328T>CCA429444980ZEB2c.*2708A>G (n.*2708A>G)
c.2082A>G (p.Arg694=)
c.2859A>G (p.Arg953=)
n.2828A>G
c.2523A>G (p.Arg841=)
c.2934A>G (p.Arg978=)
c.*2576A>G (n.*2576A>G)
n.2959A>G
c.390A>G (p.Arg130=)
c.2856A>G (p.Arg952=)
c.655+2871A>G (n.655+2871A>G)
c.1168-400A>G (n.1168-400A>G)
c.2787A>G (p.Arg929=)
c.2850A>G (p.Arg950=)
c.2838A>G (p.Arg946=)
2g.144398328T>GCA348706573ZEB2c.*2708A>C (n.*2708A>C)
c.2082A>C (p.Arg694Ser)
c.2859A>C (p.Arg953Ser)
n.2828A>C
c.2523A>C (p.Arg841Ser)
c.2934A>C (p.Arg978Ser)
c.*2576A>C (n.*2576A>C)
n.2959A>C
c.390A>C (p.Arg130Ser)
c.2856A>C (p.Arg952Ser)
c.655+2871A>C (n.655+2871A>C)
c.1168-400A>C (n.1168-400A>C)
c.2787A>C (p.Arg929Ser)
c.2850A>C (p.Arg950Ser)
c.2838A>C (p.Arg946Ser)
2g.144398329C>ACA348706574ZEB2c.*2707G>T (n.*2707G>T)
c.2081G>T (p.Arg694Ile)
c.2858G>T (p.Arg953Ile)
n.2827G>T
c.2522G>T (p.Arg841Ile)
c.2933G>T (p.Arg978Ile)
c.*2575G>T (n.*2575G>T)
n.2958G>T
c.389G>T (p.Arg130Ile)
c.2855G>T (p.Arg952Ile)
c.655+2870G>T (n.655+2870G>T)
c.1168-401G>T (n.1168-401G>T)
c.2786G>T (p.Arg929Ile)
c.2849G>T (p.Arg950Ile)
c.2837G>T (p.Arg946Ile)
 COSMIC
2g.144398329C>GCA348706575ZEB2c.*2707G>C (n.*2707G>C)
c.2081G>C (p.Arg694Thr)
c.2858G>C (p.Arg953Thr)
n.2827G>C
c.2522G>C (p.Arg841Thr)
c.2933G>C (p.Arg978Thr)
c.*2575G>C (n.*2575G>C)
n.2958G>C
c.389G>C (p.Arg130Thr)
c.2855G>C (p.Arg952Thr)
c.655+2870G>C (n.655+2870G>C)
c.1168-401G>C (n.1168-401G>C)
c.2786G>C (p.Arg929Thr)
c.2849G>C (p.Arg950Thr)
c.2837G>C (p.Arg946Thr)
2g.144398329C>TCA348706576ZEB2c.*2707G>A (n.*2707G>A)
c.2081G>A (p.Arg694Lys)
c.2858G>A (p.Arg953Lys)
n.2827G>A
c.2522G>A (p.Arg841Lys)
c.2933G>A (p.Arg978Lys)
c.*2575G>A (n.*2575G>A)
n.2958G>A
c.389G>A (p.Arg130Lys)
c.2855G>A (p.Arg952Lys)
c.655+2870G>A (n.655+2870G>A)
c.1168-401G>A (n.1168-401G>A)
c.2786G>A (p.Arg929Lys)
c.2849G>A (p.Arg950Lys)
c.2837G>A (p.Arg946Lys)
2g.144398330T>ACA348706577ZEB2c.*2706A>T (n.*2706A>T)
c.2080A>T (p.Arg694Ter)
c.2857A>T (p.Arg953Ter)
n.2826A>T
c.2521A>T (p.Arg841Ter)
c.2932A>T (p.Arg978Ter)
c.*2574A>T (n.*2574A>T)
n.2957A>T
c.388A>T (p.Arg130Ter)
c.2854A>T (p.Arg952Ter)
c.655+2869A>T (n.655+2869A>T)
c.1168-402A>T (n.1168-402A>T)
c.2785A>T (p.Arg929Ter)
c.2848A>T (p.Arg950Ter)
c.2836A>T (p.Arg946Ter)
2g.144398330T>CCA348706578ZEB2c.*2706A>G (n.*2706A>G)
c.2080A>G (p.Arg694Gly)
c.2857A>G (p.Arg953Gly)
n.2826A>G
c.2521A>G (p.Arg841Gly)
c.2932A>G (p.Arg978Gly)
c.*2574A>G (n.*2574A>G)
n.2957A>G
c.388A>G (p.Arg130Gly)
c.2854A>G (p.Arg952Gly)
c.655+2869A>G (n.655+2869A>G)
c.1168-402A>G (n.1168-402A>G)
c.2785A>G (p.Arg929Gly)
c.2848A>G (p.Arg950Gly)
c.2836A>G (p.Arg946Gly)
2g.144398330T>GCA429444984ZEB2c.*2706A>C (n.*2706A>C)
c.2080A>C (p.Arg694=)
c.2857A>C (p.Arg953=)
n.2826A>C
c.2521A>C (p.Arg841=)
c.2932A>C (p.Arg978=)
c.*2574A>C (n.*2574A>C)
n.2957A>C
c.388A>C (p.Arg130=)
c.2854A>C (p.Arg952=)
c.655+2869A>C (n.655+2869A>C)
c.1168-402A>C (n.1168-402A>C)
c.2785A>C (p.Arg929=)
c.2848A>C (p.Arg950=)
c.2836A>C (p.Arg946=)
2g.144398331C>ACA348706579ZEB2c.*2705G>T (n.*2705G>T)
c.2079G>T (p.Arg693Ser)
c.2856G>T (p.Arg952Ser)
n.2825G>T
c.2520G>T (p.Arg840Ser)
c.2931G>T (p.Arg977Ser)
c.*2573G>T (n.*2573G>T)
n.2956G>T
c.387G>T (p.Arg129Ser)
c.2853G>T (p.Arg951Ser)
c.655+2868G>T (n.655+2868G>T)
c.1168-403G>T (n.1168-403G>T)
c.2784G>T (p.Arg928Ser)
c.2847G>T (p.Arg949Ser)
c.2835G>T (p.Arg945Ser)
2g.144398331C>GCA348706580ZEB2c.*2705G>C (n.*2705G>C)
c.2079G>C (p.Arg693Ser)
c.2856G>C (p.Arg952Ser)
n.2825G>C
c.2520G>C (p.Arg840Ser)
c.2931G>C (p.Arg977Ser)
c.*2573G>C (n.*2573G>C)
n.2956G>C
c.387G>C (p.Arg129Ser)
c.2853G>C (p.Arg951Ser)
c.655+2868G>C (n.655+2868G>C)
c.1168-403G>C (n.1168-403G>C)
c.2784G>C (p.Arg928Ser)
c.2847G>C (p.Arg949Ser)
c.2835G>C (p.Arg945Ser)
2g.144398331C>TCA429444985ZEB2c.*2705G>A (n.*2705G>A)
c.2079G>A (p.Arg693=)
c.2856G>A (p.Arg952=)
n.2825G>A
c.2520G>A (p.Arg840=)
c.2931G>A (p.Arg977=)
c.*2573G>A (n.*2573G>A)
n.2956G>A
c.387G>A (p.Arg129=)
c.2853G>A (p.Arg951=)
c.655+2868G>A (n.655+2868G>A)
c.1168-403G>A (n.1168-403G>A)
c.2784G>A (p.Arg928=)
c.2847G>A (p.Arg949=)
c.2835G>A (p.Arg945=)
2g.144398332delCA2586970069ZEB2c.*2705del (n.*2705del)
c.2079del (p.Arg694GlufsTer24)
c.2856del (p.Arg953GlufsTer24)
n.2825del
c.2520del (p.Arg841GlufsTer24)
c.2931del (p.Arg978GlufsTer24)
c.*2573del (n.*2573del)
n.2956del
c.387del (p.Arg130GlufsTer24)
c.2853del (p.Arg952GlufsTer24)
c.655+2868del (n.655+2868del)
c.1168-403del (n.1168-403del)
c.2784del (p.Arg929GlufsTer24)
c.2847del (p.Arg950GlufsTer24)
c.2835del (p.Arg946GlufsTer24)
 ClinVar
2g.144398332C>ACA348706581ZEB2c.*2704G>T (n.*2704G>T)
c.2078G>T (p.Arg693Met)
c.2855G>T (p.Arg952Met)
n.2824G>T
c.2519G>T (p.Arg840Met)
c.2930G>T (p.Arg977Met)
c.*2572G>T (n.*2572G>T)
n.2955G>T
c.386G>T (p.Arg129Met)
c.2852G>T (p.Arg951Met)
c.655+2867G>T (n.655+2867G>T)
c.1168-404G>T (n.1168-404G>T)
c.2783G>T (p.Arg928Met)
c.2846G>T (p.Arg949Met)
c.2834G>T (p.Arg945Met)
2g.144398332C=CA1294884851ZEB2c.*2704G= (n.*2704G=)
c.2078G= (p.Arg693=)
c.2855G= (p.Arg952=)
n.2824G=
c.2519G= (p.Arg840=)
c.2930G= (p.Arg977=)
c.*2572G= (n.*2572G=)
n.2955G=
c.386G= (p.Arg129=)
c.2852G= (p.Arg951=)
c.655+2867G= (n.655+2867G=)
c.1168-404G= (n.1168-404G=)
c.2783G= (p.Arg928=)
c.2846G= (p.Arg949=)
c.2834G= (p.Arg945=)
2g.144398332C>GCA1898206ZEB2c.*2704G>C (n.*2704G>C)
c.2078G>C (p.Arg693Thr)
c.2855G>C (p.Arg952Thr)
n.2824G>C
c.2519G>C (p.Arg840Thr)
c.2930G>C (p.Arg977Thr)
c.*2572G>C (n.*2572G>C)
n.2955G>C
c.386G>C (p.Arg129Thr)
c.2852G>C (p.Arg951Thr)
c.655+2867G>C (n.655+2867G>C)
c.1168-404G>C (n.1168-404G>C)
c.2783G>C (p.Arg928Thr)
c.2846G>C (p.Arg949Thr)
c.2834G>C (p.Arg945Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.144398332C>TCA348706584ZEB2c.*2704G>A (n.*2704G>A)
c.2078G>A (p.Arg693Lys)
c.2855G>A (p.Arg952Lys)
n.2824G>A
c.2519G>A (p.Arg840Lys)
c.2930G>A (p.Arg977Lys)
c.*2572G>A (n.*2572G>A)
n.2955G>A
c.386G>A (p.Arg129Lys)
c.2852G>A (p.Arg951Lys)
c.655+2867G>A (n.655+2867G>A)
c.1168-404G>A (n.1168-404G>A)
c.2783G>A (p.Arg928Lys)
c.2846G>A (p.Arg949Lys)
c.2834G>A (p.Arg945Lys)
 COSMIC
2g.144398333T>ACA348706586ZEB2c.*2703A>T (n.*2703A>T)
c.2077A>T (p.Arg693Trp)
c.2854A>T (p.Arg952Trp)
n.2823A>T
c.2518A>T (p.Arg840Trp)
c.2929A>T (p.Arg977Trp)
c.*2571A>T (n.*2571A>T)
n.2954A>T
c.385A>T (p.Arg129Trp)
c.2851A>T (p.Arg951Trp)
c.655+2866A>T (n.655+2866A>T)
c.1168-405A>T (n.1168-405A>T)
c.2782A>T (p.Arg928Trp)
c.2845A>T (p.Arg949Trp)
c.2833A>T (p.Arg945Trp)
2g.144398333T>CCA348706588ZEB2c.*2703A>G (n.*2703A>G)
c.2077A>G (p.Arg693Gly)
c.2854A>G (p.Arg952Gly)
n.2823A>G
c.2518A>G (p.Arg840Gly)
c.2929A>G (p.Arg977Gly)
c.*2571A>G (n.*2571A>G)
n.2954A>G
c.385A>G (p.Arg129Gly)
c.2851A>G (p.Arg951Gly)
c.655+2866A>G (n.655+2866A>G)
c.1168-405A>G (n.1168-405A>G)
c.2782A>G (p.Arg928Gly)
c.2845A>G (p.Arg949Gly)
c.2833A>G (p.Arg945Gly)
2g.144398333T>GCA429444986ZEB2c.*2703A>C (n.*2703A>C)
c.2077A>C (p.Arg693=)
c.2854A>C (p.Arg952=)
n.2823A>C
c.2518A>C (p.Arg840=)
c.2929A>C (p.Arg977=)
c.*2571A>C (n.*2571A>C)
n.2954A>C
c.385A>C (p.Arg129=)
c.2851A>C (p.Arg951=)
c.655+2866A>C (n.655+2866A>C)
c.1168-405A>C (n.1168-405A>C)
c.2782A>C (p.Arg928=)
c.2845A>C (p.Arg949=)
c.2833A>C (p.Arg945=)
2g.144398334T>ACA348706591ZEB2c.*2702A>T (n.*2702A>T)
c.2076A>T (p.Gln692His)
c.2853A>T (p.Gln951His)
n.2822A>T
c.2517A>T (p.Gln839His)
c.2928A>T (p.Gln976His)
c.*2570A>T (n.*2570A>T)
n.2953A>T
c.384A>T (p.Gln128His)
c.2850A>T (p.Gln950His)
c.655+2865A>T (n.655+2865A>T)
c.1168-406A>T (n.1168-406A>T)
c.2781A>T (p.Gln927His)
c.2844A>T (p.Gln948His)
c.2832A>T (p.Gln944His)
2g.144398334T>CCA429444987ZEB2c.*2702A>G (n.*2702A>G)
c.2076A>G (p.Gln692=)
c.2853A>G (p.Gln951=)
n.2822A>G
c.2517A>G (p.Gln839=)
c.2928A>G (p.Gln976=)
c.*2570A>G (n.*2570A>G)
n.2953A>G
c.384A>G (p.Gln128=)
c.2850A>G (p.Gln950=)
c.655+2865A>G (n.655+2865A>G)
c.1168-406A>G (n.1168-406A>G)
c.2781A>G (p.Gln927=)
c.2844A>G (p.Gln948=)
c.2832A>G (p.Gln944=)
2g.144398334T>GCA348706592ZEB2c.*2702A>C (n.*2702A>C)
c.2076A>C (p.Gln692His)
c.2853A>C (p.Gln951His)
n.2822A>C
c.2517A>C (p.Gln839His)
c.2928A>C (p.Gln976His)
c.*2570A>C (n.*2570A>C)
n.2953A>C
c.384A>C (p.Gln128His)
c.2850A>C (p.Gln950His)
c.655+2865A>C (n.655+2865A>C)
c.1168-406A>C (n.1168-406A>C)
c.2781A>C (p.Gln927His)
c.2844A>C (p.Gln948His)
c.2832A>C (p.Gln944His)
2g.144398335T>ACA348706595ZEB2c.*2701A>T (n.*2701A>T)
c.2075A>T (p.Gln692Leu)
c.2852A>T (p.Gln951Leu)
n.2821A>T
c.2516A>T (p.Gln839Leu)
c.2927A>T (p.Gln976Leu)
c.*2569A>T (n.*2569A>T)
n.2952A>T
c.383A>T (p.Gln128Leu)
c.2849A>T (p.Gln950Leu)
c.655+2864A>T (n.655+2864A>T)
c.1168-407A>T (n.1168-407A>T)
c.2780A>T (p.Gln927Leu)
c.2843A>T (p.Gln948Leu)
c.2831A>T (p.Gln944Leu)
2g.144398335T>CCA348706599ZEB2c.*2701A>G (n.*2701A>G)
c.2075A>G (p.Gln692Arg)
c.2852A>G (p.Gln951Arg)
n.2821A>G
c.2516A>G (p.Gln839Arg)
c.2927A>G (p.Gln976Arg)
c.*2569A>G (n.*2569A>G)
n.2952A>G
c.383A>G (p.Gln128Arg)
c.2849A>G (p.Gln950Arg)
c.655+2864A>G (n.655+2864A>G)
c.1168-407A>G (n.1168-407A>G)
c.2780A>G (p.Gln927Arg)
c.2843A>G (p.Gln948Arg)
c.2831A>G (p.Gln944Arg)
2g.144398335T>GCA348706597ZEB2c.*2701A>C (n.*2701A>C)
c.2075A>C (p.Gln692Pro)
c.2852A>C (p.Gln951Pro)
n.2821A>C
c.2516A>C (p.Gln839Pro)
c.2927A>C (p.Gln976Pro)
c.*2569A>C (n.*2569A>C)
n.2952A>C
c.383A>C (p.Gln128Pro)
c.2849A>C (p.Gln950Pro)
c.655+2864A>C (n.655+2864A>C)
c.1168-407A>C (n.1168-407A>C)
c.2780A>C (p.Gln927Pro)
c.2843A>C (p.Gln948Pro)
c.2831A>C (p.Gln944Pro)
2g.144398336G>ACA348706602ZEB2c.*2700C>T (n.*2700C>T)
c.2074C>T (p.Gln692Ter)
c.2851C>T (p.Gln951Ter)
n.2820C>T
c.2515C>T (p.Gln839Ter)
c.2926C>T (p.Gln976Ter)
c.*2568C>T (n.*2568C>T)
n.2951C>T
c.382C>T (p.Gln128Ter)
c.2848C>T (p.Gln950Ter)
c.655+2863C>T (n.655+2863C>T)
c.1168-408C>T (n.1168-408C>T)
c.2779C>T (p.Gln927Ter)
c.2842C>T (p.Gln948Ter)
c.2830C>T (p.Gln944Ter)
2g.144398336G>CCA348706603ZEB2c.*2700C>G (n.*2700C>G)
c.2074C>G (p.Gln692Glu)
c.2851C>G (p.Gln951Glu)
n.2820C>G
c.2515C>G (p.Gln839Glu)
c.2926C>G (p.Gln976Glu)
c.*2568C>G (n.*2568C>G)
n.2951C>G
c.382C>G (p.Gln128Glu)
c.2848C>G (p.Gln950Glu)
c.655+2863C>G (n.655+2863C>G)
c.1168-408C>G (n.1168-408C>G)
c.2779C>G (p.Gln927Glu)
c.2842C>G (p.Gln948Glu)
c.2830C>G (p.Gln944Glu)
2g.144398336G>TCA348706606ZEB2c.*2700C>A (n.*2700C>A)
c.2074C>A (p.Gln692Lys)
c.2851C>A (p.Gln951Lys)
n.2820C>A
c.2515C>A (p.Gln839Lys)
c.2926C>A (p.Gln976Lys)
c.*2568C>A (n.*2568C>A)
n.2951C>A
c.382C>A (p.Gln128Lys)
c.2848C>A (p.Gln950Lys)
c.655+2863C>A (n.655+2863C>A)
c.1168-408C>A (n.1168-408C>A)
c.2779C>A (p.Gln927Lys)
c.2842C>A (p.Gln948Lys)
c.2830C>A (p.Gln944Lys)
2g.144398337C>ACA348706609ZEB2c.*2699G>T (n.*2699G>T)
c.2073G>T (p.Gln691His)
c.2850G>T (p.Gln950His)
n.2819G>T
c.2514G>T (p.Gln838His)
c.2925G>T (p.Gln975His)
c.*2567G>T (n.*2567G>T)
n.2950G>T
c.381G>T (p.Gln127His)
c.2847G>T (p.Gln949His)
c.655+2862G>T (n.655+2862G>T)
c.1168-409G>T (n.1168-409G>T)
c.2778G>T (p.Gln926His)
c.2841G>T (p.Gln947His)
c.2829G>T (p.Gln943His)
2g.144398337C=CA1294884852ZEB2c.*2699G= (n.*2699G=)
c.2073G= (p.Gln691=)
c.2850G= (p.Gln950=)
n.2819G=
c.2514G= (p.Gln838=)
c.2925G= (p.Gln975=)
c.*2567G= (n.*2567G=)
n.2950G=
c.381G= (p.Gln127=)
c.2847G= (p.Gln949=)
c.655+2862G= (n.655+2862G=)
c.1168-409G= (n.1168-409G=)
c.2778G= (p.Gln926=)
c.2841G= (p.Gln947=)
c.2829G= (p.Gln943=)
2g.144398337C>GCA348706611ZEB2c.*2699G>C (n.*2699G>C)
c.2073G>C (p.Gln691His)
c.2850G>C (p.Gln950His)
n.2819G>C
c.2514G>C (p.Gln838His)
c.2925G>C (p.Gln975His)
c.*2567G>C (n.*2567G>C)
n.2950G>C
c.381G>C (p.Gln127His)
c.2847G>C (p.Gln949His)
c.655+2862G>C (n.655+2862G>C)
c.1168-409G>C (n.1168-409G>C)
c.2778G>C (p.Gln926His)
c.2841G>C (p.Gln947His)
c.2829G>C (p.Gln943His)
2g.144398337C>TCA429444988ZEB2c.*2699G>A (n.*2699G>A)
c.2073G>A (p.Gln691=)
c.2850G>A (p.Gln950=)
n.2819G>A
c.2514G>A (p.Gln838=)
c.2925G>A (p.Gln975=)
c.*2567G>A (n.*2567G>A)
n.2950G>A
c.381G>A (p.Gln127=)
c.2847G>A (p.Gln949=)
c.655+2862G>A (n.655+2862G>A)
c.1168-409G>A (n.1168-409G>A)
c.2778G>A (p.Gln926=)
c.2841G>A (p.Gln947=)
c.2829G>A (p.Gln943=)
 ClinVar dbSNP
2g.144398338T>ACA348706613ZEB2c.*2698A>T (n.*2698A>T)
c.2072A>T (p.Gln691Leu)
c.2849A>T (p.Gln950Leu)
n.2818A>T
c.2513A>T (p.Gln838Leu)
c.2924A>T (p.Gln975Leu)
c.*2566A>T (n.*2566A>T)
n.2949A>T
c.380A>T (p.Gln127Leu)
c.2846A>T (p.Gln949Leu)
c.655+2861A>T (n.655+2861A>T)
c.1168-410A>T (n.1168-410A>T)
c.2777A>T (p.Gln926Leu)
c.2840A>T (p.Gln947Leu)
c.2828A>T (p.Gln943Leu)
2g.144398338T>CCA348706616ZEB2c.*2698A>G (n.*2698A>G)
c.2072A>G (p.Gln691Arg)
c.2849A>G (p.Gln950Arg)
n.2818A>G
c.2513A>G (p.Gln838Arg)
c.2924A>G (p.Gln975Arg)
c.*2566A>G (n.*2566A>G)
n.2949A>G
c.380A>G (p.Gln127Arg)
c.2846A>G (p.Gln949Arg)
c.655+2861A>G (n.655+2861A>G)
c.1168-410A>G (n.1168-410A>G)
c.2777A>G (p.Gln926Arg)
c.2840A>G (p.Gln947Arg)
c.2828A>G (p.Gln943Arg)
2g.144398338T>GCA348706618ZEB2c.*2698A>C (n.*2698A>C)
c.2072A>C (p.Gln691Pro)
c.2849A>C (p.Gln950Pro)
n.2818A>C
c.2513A>C (p.Gln838Pro)
c.2924A>C (p.Gln975Pro)
c.*2566A>C (n.*2566A>C)
n.2949A>C
c.380A>C (p.Gln127Pro)
c.2846A>C (p.Gln949Pro)
c.655+2861A>C (n.655+2861A>C)
c.1168-410A>C (n.1168-410A>C)
c.2777A>C (p.Gln926Pro)
c.2840A>C (p.Gln947Pro)
c.2828A>C (p.Gln943Pro)
2g.144398339G>ACA348706620ZEB2c.*2697C>T (n.*2697C>T)
c.2071C>T (p.Gln691Ter)
c.2848C>T (p.Gln950Ter)
n.2817C>T
c.2512C>T (p.Gln838Ter)
c.2923C>T (p.Gln975Ter)
c.*2565C>T (n.*2565C>T)
n.2948C>T
c.379C>T (p.Gln127Ter)
c.2845C>T (p.Gln949Ter)
c.655+2860C>T (n.655+2860C>T)
c.1168-411C>T (n.1168-411C>T)
c.2776C>T (p.Gln926Ter)
c.2839C>T (p.Gln947Ter)
c.2827C>T (p.Gln943Ter)
2g.144398339G>CCA348706622ZEB2c.*2697C>G (n.*2697C>G)
c.2071C>G (p.Gln691Glu)
c.2848C>G (p.Gln950Glu)
n.2817C>G
c.2512C>G (p.Gln838Glu)
c.2923C>G (p.Gln975Glu)
c.*2565C>G (n.*2565C>G)
n.2948C>G
c.379C>G (p.Gln127Glu)
c.2845C>G (p.Gln949Glu)
c.655+2860C>G (n.655+2860C>G)
c.1168-411C>G (n.1168-411C>G)
c.2776C>G (p.Gln926Glu)
c.2839C>G (p.Gln947Glu)
c.2827C>G (p.Gln943Glu)
2g.144398339G>TCA348706624ZEB2c.*2697C>A (n.*2697C>A)
c.2071C>A (p.Gln691Lys)
c.2848C>A (p.Gln950Lys)
n.2817C>A
c.2512C>A (p.Gln838Lys)
c.2923C>A (p.Gln975Lys)
c.*2565C>A (n.*2565C>A)
n.2948C>A
c.379C>A (p.Gln127Lys)
c.2845C>A (p.Gln949Lys)
c.655+2860C>A (n.655+2860C>A)
c.1168-411C>A (n.1168-411C>A)
c.2776C>A (p.Gln926Lys)
c.2839C>A (p.Gln947Lys)
c.2827C>A (p.Gln943Lys)
2g.144398340C>ACA348706631ZEB2c.*2696G>T (n.*2696G>T)
c.2070G>T (p.Met690Ile)
c.2847G>T (p.Met949Ile)
n.2816G>T
c.2511G>T (p.Met837Ile)
c.2922G>T (p.Met974Ile)
c.*2564G>T (n.*2564G>T)
n.2947G>T
c.378G>T (p.Met126Ile)
c.2844G>T (p.Met948Ile)
c.655+2859G>T (n.655+2859G>T)
c.1168-412G>T (n.1168-412G>T)
c.2775G>T (p.Met925Ile)
c.2838G>T (p.Met946Ile)
c.2826G>T (p.Met942Ile)
2g.144398340C=CA1294884853ZEB2c.*2696G= (n.*2696G=)
c.2070G= (p.Met690=)
c.2847G= (p.Met949=)
n.2816G=
c.2511G= (p.Met837=)
c.2922G= (p.Met974=)
c.*2564G= (n.*2564G=)
n.2947G=
c.378G= (p.Met126=)
c.2844G= (p.Met948=)
c.655+2859G= (n.655+2859G=)
c.1168-412G= (n.1168-412G=)
c.2775G= (p.Met925=)
c.2838G= (p.Met946=)
c.2826G= (p.Met942=)
2g.144398340C>GCA348706627ZEB2c.*2696G>C (n.*2696G>C)
c.2070G>C (p.Met690Ile)
c.2847G>C (p.Met949Ile)
n.2816G>C
c.2511G>C (p.Met837Ile)
c.2922G>C (p.Met974Ile)
c.*2564G>C (n.*2564G>C)
n.2947G>C
c.378G>C (p.Met126Ile)
c.2844G>C (p.Met948Ile)
c.655+2859G>C (n.655+2859G>C)
c.1168-412G>C (n.1168-412G>C)
c.2775G>C (p.Met925Ile)
c.2838G>C (p.Met946Ile)
c.2826G>C (p.Met942Ile)
2g.144398340C>TCA348706629ZEB2c.*2696G>A (n.*2696G>A)
c.2070G>A (p.Met690Ile)
c.2847G>A (p.Met949Ile)
n.2816G>A
c.2511G>A (p.Met837Ile)
c.2922G>A (p.Met974Ile)
c.*2564G>A (n.*2564G>A)
n.2947G>A
c.378G>A (p.Met126Ile)
c.2844G>A (p.Met948Ile)
c.655+2859G>A (n.655+2859G>A)
c.1168-412G>A (n.1168-412G>A)
c.2775G>A (p.Met925Ile)
c.2838G>A (p.Met946Ile)
c.2826G>A (p.Met942Ile)
 ClinVar dbSNP
2g.144398341A>CCA348706634ZEB2c.*2695T>G (n.*2695T>G)
c.2069T>G (p.Met690Arg)
c.2846T>G (p.Met949Arg)
n.2815T>G
c.2510T>G (p.Met837Arg)
c.2921T>G (p.Met974Arg)
c.*2563T>G (n.*2563T>G)
n.2946T>G
c.377T>G (p.Met126Arg)
c.2843T>G (p.Met948Arg)
c.655+2858T>G (n.655+2858T>G)
c.1168-413T>G (n.1168-413T>G)
c.2774T>G (p.Met925Arg)
c.2837T>G (p.Met946Arg)
c.2825T>G (p.Met942Arg)
2g.144398341A>GCA348706636ZEB2c.*2695T>C (n.*2695T>C)
c.2069T>C (p.Met690Thr)
c.2846T>C (p.Met949Thr)
n.2815T>C
c.2510T>C (p.Met837Thr)
c.2921T>C (p.Met974Thr)
c.*2563T>C (n.*2563T>C)
n.2946T>C
c.377T>C (p.Met126Thr)
c.2843T>C (p.Met948Thr)
c.655+2858T>C (n.655+2858T>C)
c.1168-413T>C (n.1168-413T>C)
c.2774T>C (p.Met925Thr)
c.2837T>C (p.Met946Thr)
c.2825T>C (p.Met942Thr)
 ClinVar dbSNP gnomAD v4
2g.144398341A>TCA348706638ZEB2c.*2695T>A (n.*2695T>A)
c.2069T>A (p.Met690Lys)
c.2846T>A (p.Met949Lys)
n.2815T>A
c.2510T>A (p.Met837Lys)
c.2921T>A (p.Met974Lys)
c.*2563T>A (n.*2563T>A)
n.2946T>A
c.377T>A (p.Met126Lys)
c.2843T>A (p.Met948Lys)
c.655+2858T>A (n.655+2858T>A)
c.1168-413T>A (n.1168-413T>A)
c.2774T>A (p.Met925Lys)
c.2837T>A (p.Met946Lys)
c.2825T>A (p.Met942Lys)
2g.144398342T>ACA348706642ZEB2c.*2694A>T (n.*2694A>T)
c.2068A>T (p.Met690Leu)
c.2845A>T (p.Met949Leu)
n.2814A>T
c.2509A>T (p.Met837Leu)
c.2920A>T (p.Met974Leu)
c.*2562A>T (n.*2562A>T)
n.2945A>T
c.376A>T (p.Met126Leu)
c.2842A>T (p.Met948Leu)
c.655+2857A>T (n.655+2857A>T)
c.1168-414A>T (n.1168-414A>T)
c.2773A>T (p.Met925Leu)
c.2836A>T (p.Met946Leu)
c.2824A>T (p.Met942Leu)
2g.144398342T>CCA348706644ZEB2c.*2694A>G (n.*2694A>G)
c.2068A>G (p.Met690Val)
c.2845A>G (p.Met949Val)
n.2814A>G
c.2509A>G (p.Met837Val)
c.2920A>G (p.Met974Val)
c.*2562A>G (n.*2562A>G)
n.2945A>G
c.376A>G (p.Met126Val)
c.2842A>G (p.Met948Val)
c.655+2857A>G (n.655+2857A>G)
c.1168-414A>G (n.1168-414A>G)
c.2773A>G (p.Met925Val)
c.2836A>G (p.Met946Val)
c.2824A>G (p.Met942Val)
 dbSNP gnomAD v3 gnomAD v4
2g.144398342T>GCA348706646ZEB2c.*2694A>C (n.*2694A>C)
c.2068A>C (p.Met690Leu)
c.2845A>C (p.Met949Leu)
n.2814A>C
c.2509A>C (p.Met837Leu)
c.2920A>C (p.Met974Leu)
c.*2562A>C (n.*2562A>C)
n.2945A>C
c.376A>C (p.Met126Leu)
c.2842A>C (p.Met948Leu)
c.655+2857A>C (n.655+2857A>C)
c.1168-414A>C (n.1168-414A>C)
c.2773A>C (p.Met925Leu)
c.2836A>C (p.Met946Leu)
c.2824A>C (p.Met942Leu)
2g.144398342T=CA1294884854ZEB2c.*2694A= (n.*2694A=)
c.2068A= (p.Met690=)
c.2845A= (p.Met949=)
n.2814A=
c.2509A= (p.Met837=)
c.2920A= (p.Met974=)
c.*2562A= (n.*2562A=)
n.2945A=
c.376A= (p.Met126=)
c.2842A= (p.Met948=)
c.655+2857A= (n.655+2857A=)
c.1168-414A= (n.1168-414A=)
c.2773A= (p.Met925=)
c.2836A= (p.Met946=)
c.2824A= (p.Met942=)
2g.144398342dupCA2586970070ZEB2c.*2694dup (n.*2694dup)
c.2068dup (p.Met690AsnfsTer19)
c.2845dup (p.Met949AsnfsTer19)
n.2814dup
c.2509dup (p.Met837AsnfsTer19)
c.2920dup (p.Met974AsnfsTer19)
c.*2562dup (n.*2562dup)
n.2945dup
c.376dup (p.Met126AsnfsTer19)
c.2842dup (p.Met948AsnfsTer19)
c.655+2857dup (n.655+2857dup)
c.1168-414dup (n.1168-414dup)
c.2773dup (p.Met925AsnfsTer19)
c.2836dup (p.Met946AsnfsTer19)
c.2824dup (p.Met942AsnfsTer19)
2g.144398343A>CCA348706648ZEB2c.*2693T>G (n.*2693T>G)
c.2067T>G (p.Asp689Glu)
c.2844T>G (p.Asp948Glu)
n.2813T>G
c.2508T>G (p.Asp836Glu)
c.2919T>G (p.Asp973Glu)
c.*2561T>G (n.*2561T>G)
n.2944T>G
c.375T>G (p.Asp125Glu)
c.2841T>G (p.Asp947Glu)
c.655+2856T>G (n.655+2856T>G)
c.1168-415T>G (n.1168-415T>G)
c.2772T>G (p.Asp924Glu)
c.2835T>G (p.Asp945Glu)
c.2823T>G (p.Asp941Glu)
2g.144398343A>GCA429444990ZEB2c.*2693T>C (n.*2693T>C)
c.2067T>C (p.Asp689=)
c.2844T>C (p.Asp948=)
n.2813T>C
c.2508T>C (p.Asp836=)
c.2919T>C (p.Asp973=)
c.*2561T>C (n.*2561T>C)
n.2944T>C
c.375T>C (p.Asp125=)
c.2841T>C (p.Asp947=)
c.655+2856T>C (n.655+2856T>C)
c.1168-415T>C (n.1168-415T>C)
c.2772T>C (p.Asp924=)
c.2835T>C (p.Asp945=)
c.2823T>C (p.Asp941=)
2g.144398343A>TCA348706650ZEB2c.*2693T>A (n.*2693T>A)
c.2067T>A (p.Asp689Glu)
c.2844T>A (p.Asp948Glu)
n.2813T>A
c.2508T>A (p.Asp836Glu)
c.2919T>A (p.Asp973Glu)
c.*2561T>A (n.*2561T>A)
n.2944T>A
c.375T>A (p.Asp125Glu)
c.2841T>A (p.Asp947Glu)
c.655+2856T>A (n.655+2856T>A)
c.1168-415T>A (n.1168-415T>A)
c.2772T>A (p.Asp924Glu)
c.2835T>A (p.Asp945Glu)
c.2823T>A (p.Asp941Glu)
2g.144398344T>ACA348706653ZEB2c.*2692A>T (n.*2692A>T)
c.2066A>T (p.Asp689Val)
c.2843A>T (p.Asp948Val)
n.2812A>T
c.2507A>T (p.Asp836Val)
c.2918A>T (p.Asp973Val)
c.*2560A>T (n.*2560A>T)
n.2943A>T
c.374A>T (p.Asp125Val)
c.2840A>T (p.Asp947Val)
c.655+2855A>T (n.655+2855A>T)
c.1168-416A>T (n.1168-416A>T)
c.2771A>T (p.Asp924Val)
c.2834A>T (p.Asp945Val)
c.2822A>T (p.Asp941Val)
2g.144398344T>CCA348706655ZEB2c.*2692A>G (n.*2692A>G)
c.2066A>G (p.Asp689Gly)
c.2843A>G (p.Asp948Gly)
n.2812A>G
c.2507A>G (p.Asp836Gly)
c.2918A>G (p.Asp973Gly)
c.*2560A>G (n.*2560A>G)
n.2943A>G
c.374A>G (p.Asp125Gly)
c.2840A>G (p.Asp947Gly)
c.655+2855A>G (n.655+2855A>G)
c.1168-416A>G (n.1168-416A>G)
c.2771A>G (p.Asp924Gly)
c.2834A>G (p.Asp945Gly)
c.2822A>G (p.Asp941Gly)
2g.144398344T>GCA348706657ZEB2c.*2692A>C (n.*2692A>C)
c.2066A>C (p.Asp689Ala)
c.2843A>C (p.Asp948Ala)
n.2812A>C
c.2507A>C (p.Asp836Ala)
c.2918A>C (p.Asp973Ala)
c.*2560A>C (n.*2560A>C)
n.2943A>C
c.374A>C (p.Asp125Ala)
c.2840A>C (p.Asp947Ala)
c.655+2855A>C (n.655+2855A>C)
c.1168-416A>C (n.1168-416A>C)
c.2771A>C (p.Asp924Ala)
c.2834A>C (p.Asp945Ala)
c.2822A>C (p.Asp941Ala)
2g.144398345C>ACA348706661ZEB2c.*2691G>T (n.*2691G>T)
c.2065G>T (p.Asp689Tyr)
c.2842G>T (p.Asp948Tyr)
n.2811G>T
c.2506G>T (p.Asp836Tyr)
c.2917G>T (p.Asp973Tyr)
c.*2559G>T (n.*2559G>T)
n.2942G>T
c.373G>T (p.Asp125Tyr)
c.2839G>T (p.Asp947Tyr)
c.655+2854G>T (n.655+2854G>T)
c.1168-417G>T (n.1168-417G>T)
c.2770G>T (p.Asp924Tyr)
c.2833G>T (p.Asp945Tyr)
c.2821G>T (p.Asp941Tyr)
2g.144398345C=CA1294884855ZEB2c.*2691G= (n.*2691G=)
c.2065G= (p.Asp689=)
c.2842G= (p.Asp948=)
n.2811G=
c.2506G= (p.Asp836=)
c.2917G= (p.Asp973=)
c.*2559G= (n.*2559G=)
n.2942G=
c.373G= (p.Asp125=)
c.2839G= (p.Asp947=)
c.655+2854G= (n.655+2854G=)
c.1168-417G= (n.1168-417G=)
c.2770G= (p.Asp924=)
c.2833G= (p.Asp945=)
c.2821G= (p.Asp941=)
2g.144398345C>GCA348706663ZEB2c.*2691G>C (n.*2691G>C)
c.2065G>C (p.Asp689His)
c.2842G>C (p.Asp948His)
n.2811G>C
c.2506G>C (p.Asp836His)
c.2917G>C (p.Asp973His)
c.*2559G>C (n.*2559G>C)
n.2942G>C
c.373G>C (p.Asp125His)
c.2839G>C (p.Asp947His)
c.655+2854G>C (n.655+2854G>C)
c.1168-417G>C (n.1168-417G>C)
c.2770G>C (p.Asp924His)
c.2833G>C (p.Asp945His)
c.2821G>C (p.Asp941His)
 dbSNP gnomAD v4
2g.144398345C>TCA348706660ZEB2c.*2691G>A (n.*2691G>A)
c.2065G>A (p.Asp689Asn)
c.2842G>A (p.Asp948Asn)
n.2811G>A
c.2506G>A (p.Asp836Asn)
c.2917G>A (p.Asp973Asn)
c.*2559G>A (n.*2559G>A)
n.2942G>A
c.373G>A (p.Asp125Asn)
c.2839G>A (p.Asp947Asn)
c.655+2854G>A (n.655+2854G>A)
c.1168-417G>A (n.1168-417G>A)
c.2770G>A (p.Asp924Asn)
c.2833G>A (p.Asp945Asn)
c.2821G>A (p.Asp941Asn)
2g.144398346A>CCA429444994ZEB2c.*2690T>G (n.*2690T>G)
c.2064T>G (p.Ala688=)
c.2841T>G (p.Ala947=)
n.2810T>G
c.2505T>G (p.Ala835=)
c.2916T>G (p.Ala972=)
c.*2558T>G (n.*2558T>G)
n.2941T>G
c.372T>G (p.Ala124=)
c.2838T>G (p.Ala946=)
c.655+2853T>G (n.655+2853T>G)
c.1168-418T>G (n.1168-418T>G)
c.2769T>G (p.Ala923=)
c.2832T>G (p.Ala944=)
c.2820T>G (p.Ala940=)
2g.144398346A>GCA429444995ZEB2c.*2690T>C (n.*2690T>C)
c.2064T>C (p.Ala688=)
c.2841T>C (p.Ala947=)
n.2810T>C
c.2505T>C (p.Ala835=)
c.2916T>C (p.Ala972=)
c.*2558T>C (n.*2558T>C)
n.2941T>C
c.372T>C (p.Ala124=)
c.2838T>C (p.Ala946=)
c.655+2853T>C (n.655+2853T>C)
c.1168-418T>C (n.1168-418T>C)
c.2769T>C (p.Ala923=)
c.2832T>C (p.Ala944=)
c.2820T>C (p.Ala940=)
2g.144398346A>TCA429444996ZEB2c.*2690T>A (n.*2690T>A)
c.2064T>A (p.Ala688=)
c.2841T>A (p.Ala947=)
n.2810T>A
c.2505T>A (p.Ala835=)
c.2916T>A (p.Ala972=)
c.*2558T>A (n.*2558T>A)
n.2941T>A
c.372T>A (p.Ala124=)
c.2838T>A (p.Ala946=)
c.655+2853T>A (n.655+2853T>A)
c.1168-418T>A (n.1168-418T>A)
c.2769T>A (p.Ala923=)
c.2832T>A (p.Ala944=)
c.2820T>A (p.Ala940=)
2g.144398347G>ACA348706666ZEB2c.*2689C>T (n.*2689C>T)
c.2063C>T (p.Ala688Val)
c.2840C>T (p.Ala947Val)
n.2809C>T
c.2504C>T (p.Ala835Val)
c.2915C>T (p.Ala972Val)
c.*2557C>T (n.*2557C>T)
n.2940C>T
c.371C>T (p.Ala124Val)
c.2837C>T (p.Ala946Val)
c.655+2852C>T (n.655+2852C>T)
c.1168-419C>T (n.1168-419C>T)
c.2768C>T (p.Ala923Val)
c.2831C>T (p.Ala944Val)
c.2819C>T (p.Ala940Val)
2g.144398347G>CCA348706668ZEB2c.*2689C>G (n.*2689C>G)
c.2063C>G (p.Ala688Gly)
c.2840C>G (p.Ala947Gly)
n.2809C>G
c.2504C>G (p.Ala835Gly)
c.2915C>G (p.Ala972Gly)
c.*2557C>G (n.*2557C>G)
n.2940C>G
c.371C>G (p.Ala124Gly)
c.2837C>G (p.Ala946Gly)
c.655+2852C>G (n.655+2852C>G)
c.1168-419C>G (n.1168-419C>G)
c.2768C>G (p.Ala923Gly)
c.2831C>G (p.Ala944Gly)
c.2819C>G (p.Ala940Gly)
 ClinVar dbSNP gnomAD v4
2g.144398347G=CA1294884856ZEB2c.*2689C= (n.*2689C=)
c.2063C= (p.Ala688=)
c.2840C= (p.Ala947=)
n.2809C=
c.2504C= (p.Ala835=)
c.2915C= (p.Ala972=)
c.*2557C= (n.*2557C=)
n.2940C=
c.371C= (p.Ala124=)
c.2837C= (p.Ala946=)
c.655+2852C= (n.655+2852C=)
c.1168-419C= (n.1168-419C=)
c.2768C= (p.Ala923=)
c.2831C= (p.Ala944=)
c.2819C= (p.Ala940=)
2g.144398347G>TCA348706670ZEB2c.*2689C>A (n.*2689C>A)
c.2063C>A (p.Ala688Asp)
c.2840C>A (p.Ala947Asp)
n.2809C>A
c.2504C>A (p.Ala835Asp)
c.2915C>A (p.Ala972Asp)
c.*2557C>A (n.*2557C>A)
n.2940C>A
c.371C>A (p.Ala124Asp)
c.2837C>A (p.Ala946Asp)
c.655+2852C>A (n.655+2852C>A)
c.1168-419C>A (n.1168-419C>A)
c.2768C>A (p.Ala923Asp)
c.2831C>A (p.Ala944Asp)
c.2819C>A (p.Ala940Asp)
2g.144398348C>ACA348706673ZEB2c.*2688G>T (n.*2688G>T)
c.2062G>T (p.Ala688Ser)
c.2839G>T (p.Ala947Ser)
n.2808G>T
c.2503G>T (p.Ala835Ser)
c.2914G>T (p.Ala972Ser)
c.*2556G>T (n.*2556G>T)
n.2939G>T
c.370G>T (p.Ala124Ser)
c.2836G>T (p.Ala946Ser)
c.655+2851G>T (n.655+2851G>T)
c.1168-420G>T (n.1168-420G>T)
c.2767G>T (p.Ala923Ser)
c.2830G>T (p.Ala944Ser)
c.2818G>T (p.Ala940Ser)
2g.144398348C=CA1294884857ZEB2c.*2688G= (n.*2688G=)
c.2062G= (p.Ala688=)
c.2839G= (p.Ala947=)
n.2808G=
c.2503G= (p.Ala835=)
c.2914G= (p.Ala972=)
c.*2556G= (n.*2556G=)
n.2939G=
c.370G= (p.Ala124=)
c.2836G= (p.Ala946=)
c.655+2851G= (n.655+2851G=)
c.1168-420G= (n.1168-420G=)
c.2767G= (p.Ala923=)
c.2830G= (p.Ala944=)
c.2818G= (p.Ala940=)
2g.144398348C>GCA348706675ZEB2c.*2688G>C (n.*2688G>C)
c.2062G>C (p.Ala688Pro)
c.2839G>C (p.Ala947Pro)
n.2808G>C
c.2503G>C (p.Ala835Pro)
c.2914G>C (p.Ala972Pro)
c.*2556G>C (n.*2556G>C)
n.2939G>C
c.370G>C (p.Ala124Pro)
c.2836G>C (p.Ala946Pro)
c.655+2851G>C (n.655+2851G>C)
c.1168-420G>C (n.1168-420G>C)
c.2767G>C (p.Ala923Pro)
c.2830G>C (p.Ala944Pro)
c.2818G>C (p.Ala940Pro)
 dbSNP gnomAD v3 gnomAD v4
2g.144398348C>TCA348706677ZEB2c.*2688G>A (n.*2688G>A)
c.2062G>A (p.Ala688Thr)
c.2839G>A (p.Ala947Thr)
n.2808G>A
c.2503G>A (p.Ala835Thr)
c.2914G>A (p.Ala972Thr)
c.*2556G>A (n.*2556G>A)
n.2939G>A
c.370G>A (p.Ala124Thr)
c.2836G>A (p.Ala946Thr)
c.655+2851G>A (n.655+2851G>A)
c.1168-420G>A (n.1168-420G>A)
c.2767G>A (p.Ala923Thr)
c.2830G>A (p.Ala944Thr)
c.2818G>A (p.Ala940Thr)
2g.144398349A>CCA348706682ZEB2c.*2687T>G (n.*2687T>G)
c.2061T>G (p.Phe687Leu)
c.2838T>G (p.Phe946Leu)
n.2807T>G
c.2502T>G (p.Phe834Leu)
c.2913T>G (p.Phe971Leu)
c.*2555T>G (n.*2555T>G)
n.2938T>G
c.369T>G (p.Phe123Leu)
c.2835T>G (p.Phe945Leu)
c.655+2850T>G (n.655+2850T>G)
c.1168-421T>G (n.1168-421T>G)
c.2766T>G (p.Phe922Leu)
c.2829T>G (p.Phe943Leu)
c.2817T>G (p.Phe939Leu)
2g.144398349A>GCA429444998ZEB2c.*2687T>C (n.*2687T>C)
c.2061T>C (p.Phe687=)
c.2838T>C (p.Phe946=)
n.2807T>C
c.2502T>C (p.Phe834=)
c.2913T>C (p.Phe971=)
c.*2555T>C (n.*2555T>C)
n.2938T>C
c.369T>C (p.Phe123=)
c.2835T>C (p.Phe945=)
c.655+2850T>C (n.655+2850T>C)
c.1168-421T>C (n.1168-421T>C)
c.2766T>C (p.Phe922=)
c.2829T>C (p.Phe943=)
c.2817T>C (p.Phe939=)
 gnomAD v4
2g.144398349A>TCA348706680ZEB2c.*2687T>A (n.*2687T>A)
c.2061T>A (p.Phe687Leu)
c.2838T>A (p.Phe946Leu)
n.2807T>A
c.2502T>A (p.Phe834Leu)
c.2913T>A (p.Phe971Leu)
c.*2555T>A (n.*2555T>A)
n.2938T>A
c.369T>A (p.Phe123Leu)
c.2835T>A (p.Phe945Leu)
c.655+2850T>A (n.655+2850T>A)
c.1168-421T>A (n.1168-421T>A)
c.2766T>A (p.Phe922Leu)
c.2829T>A (p.Phe943Leu)
c.2817T>A (p.Phe939Leu)
2g.144398350A=CA1294884858ZEB2c.*2686T= (n.*2686T=)
c.2060T= (p.Phe687=)
c.2837T= (p.Phe946=)
n.2806T=
c.2501T= (p.Phe834=)
c.2912T= (p.Phe971=)
c.*2554T= (n.*2554T=)
n.2937T=
c.368T= (p.Phe123=)
c.2834T= (p.Phe945=)
c.655+2849T= (n.655+2849T=)
c.1168-422T= (n.1168-422T=)
c.2765T= (p.Phe922=)
c.2828T= (p.Phe943=)
c.2816T= (p.Phe939=)
2g.144398350A>CCA348706685ZEB2c.*2686T>G (n.*2686T>G)
c.2060T>G (p.Phe687Cys)
c.2837T>G (p.Phe946Cys)
n.2806T>G
c.2501T>G (p.Phe834Cys)
c.2912T>G (p.Phe971Cys)
c.*2554T>G (n.*2554T>G)
n.2937T>G
c.368T>G (p.Phe123Cys)
c.2834T>G (p.Phe945Cys)
c.655+2849T>G (n.655+2849T>G)
c.1168-422T>G (n.1168-422T>G)
c.2765T>G (p.Phe922Cys)
c.2828T>G (p.Phe943Cys)
c.2816T>G (p.Phe939Cys)
2g.144398350A>GCA348706687ZEB2c.*2686T>C (n.*2686T>C)
c.2060T>C (p.Phe687Ser)
c.2837T>C (p.Phe946Ser)
n.2806T>C
c.2501T>C (p.Phe834Ser)
c.2912T>C (p.Phe971Ser)
c.*2554T>C (n.*2554T>C)
n.2937T>C
c.368T>C (p.Phe123Ser)
c.2834T>C (p.Phe945Ser)
c.655+2849T>C (n.655+2849T>C)
c.1168-422T>C (n.1168-422T>C)
c.2765T>C (p.Phe922Ser)
c.2828T>C (p.Phe943Ser)
c.2816T>C (p.Phe939Ser)
 dbSNP gnomAD v3 gnomAD v4
2g.144398350A>TCA348706689ZEB2c.*2686T>A (n.*2686T>A)
c.2060T>A (p.Phe687Tyr)
c.2837T>A (p.Phe946Tyr)
n.2806T>A
c.2501T>A (p.Phe834Tyr)
c.2912T>A (p.Phe971Tyr)
c.*2554T>A (n.*2554T>A)
n.2937T>A
c.368T>A (p.Phe123Tyr)
c.2834T>A (p.Phe945Tyr)
c.655+2849T>A (n.655+2849T>A)
c.1168-422T>A (n.1168-422T>A)
c.2765T>A (p.Phe922Tyr)
c.2828T>A (p.Phe943Tyr)
c.2816T>A (p.Phe939Tyr)
2g.144398351A>CCA348706693ZEB2c.*2685T>G (n.*2685T>G)
c.2059T>G (p.Phe687Val)
c.2836T>G (p.Phe946Val)
n.2805T>G
c.2500T>G (p.Phe834Val)
c.2911T>G (p.Phe971Val)
c.*2553T>G (n.*2553T>G)
n.2936T>G
c.367T>G (p.Phe123Val)
c.2833T>G (p.Phe945Val)
c.655+2848T>G (n.655+2848T>G)
c.1168-423T>G (n.1168-423T>G)
c.2764T>G (p.Phe922Val)
c.2827T>G (p.Phe943Val)
c.2815T>G (p.Phe939Val)
2g.144398351A>GCA348706694ZEB2c.*2685T>C (n.*2685T>C)
c.2059T>C (p.Phe687Leu)
c.2836T>C (p.Phe946Leu)
n.2805T>C
c.2500T>C (p.Phe834Leu)
c.2911T>C (p.Phe971Leu)
c.*2553T>C (n.*2553T>C)
n.2936T>C
c.367T>C (p.Phe123Leu)
c.2833T>C (p.Phe945Leu)
c.655+2848T>C (n.655+2848T>C)
c.1168-423T>C (n.1168-423T>C)
c.2764T>C (p.Phe922Leu)
c.2827T>C (p.Phe943Leu)
c.2815T>C (p.Phe939Leu)
 gnomAD v4
2g.144398351A>TCA348706696ZEB2c.*2685T>A (n.*2685T>A)
c.2059T>A (p.Phe687Ile)
c.2836T>A (p.Phe946Ile)
n.2805T>A
c.2500T>A (p.Phe834Ile)
c.2911T>A (p.Phe971Ile)
c.*2553T>A (n.*2553T>A)
n.2936T>A
c.367T>A (p.Phe123Ile)
c.2833T>A (p.Phe945Ile)
c.655+2848T>A (n.655+2848T>A)
c.1168-423T>A (n.1168-423T>A)
c.2764T>A (p.Phe922Ile)
c.2827T>A (p.Phe943Ile)
c.2815T>A (p.Phe939Ile)
2g.144398352A>CCA429445000ZEB2c.*2684T>G (n.*2684T>G)
c.2058T>G (p.Thr686=)
c.2835T>G (p.Thr945=)
n.2804T>G
c.2499T>G (p.Thr833=)
c.2910T>G (p.Thr970=)
c.*2552T>G (n.*2552T>G)
n.2935T>G
c.366T>G (p.Thr122=)
c.2832T>G (p.Thr944=)
c.655+2847T>G (n.655+2847T>G)
c.1168-424T>G (n.1168-424T>G)
c.2763T>G (p.Thr921=)
c.2826T>G (p.Thr942=)
c.2814T>G (p.Thr938=)
2g.144398352A>GCA429445002ZEB2c.*2684T>C (n.*2684T>C)
c.2058T>C (p.Thr686=)
c.2835T>C (p.Thr945=)
n.2804T>C
c.2499T>C (p.Thr833=)
c.2910T>C (p.Thr970=)
c.*2552T>C (n.*2552T>C)
n.2935T>C
c.366T>C (p.Thr122=)
c.2832T>C (p.Thr944=)
c.655+2847T>C (n.655+2847T>C)
c.1168-424T>C (n.1168-424T>C)
c.2763T>C (p.Thr921=)
c.2826T>C (p.Thr942=)
c.2814T>C (p.Thr938=)
2g.144398352A>TCA429445001ZEB2c.*2684T>A (n.*2684T>A)
c.2058T>A (p.Thr686=)
c.2835T>A (p.Thr945=)
n.2804T>A
c.2499T>A (p.Thr833=)
c.2910T>A (p.Thr970=)
c.*2552T>A (n.*2552T>A)
n.2935T>A
c.366T>A (p.Thr122=)
c.2832T>A (p.Thr944=)
c.655+2847T>A (n.655+2847T>A)
c.1168-424T>A (n.1168-424T>A)
c.2763T>A (p.Thr921=)
c.2826T>A (p.Thr942=)
c.2814T>A (p.Thr938=)
2g.144398353G>ACA348706699ZEB2c.*2683C>T (n.*2683C>T)
c.2057C>T (p.Thr686Ile)
c.2834C>T (p.Thr945Ile)
n.2803C>T
c.2498C>T (p.Thr833Ile)
c.2909C>T (p.Thr970Ile)
c.*2551C>T (n.*2551C>T)
n.2934C>T
c.365C>T (p.Thr122Ile)
c.2831C>T (p.Thr944Ile)
c.655+2846C>T (n.655+2846C>T)
c.1168-425C>T (n.1168-425C>T)
c.2762C>T (p.Thr921Ile)
c.2825C>T (p.Thr942Ile)
c.2813C>T (p.Thr938Ile)
 gnomAD v4
2g.144398353G>CCA348706703ZEB2c.*2683C>G (n.*2683C>G)
c.2057C>G (p.Thr686Ser)
c.2834C>G (p.Thr945Ser)
n.2803C>G
c.2498C>G (p.Thr833Ser)
c.2909C>G (p.Thr970Ser)
c.*2551C>G (n.*2551C>G)
n.2934C>G
c.365C>G (p.Thr122Ser)
c.2831C>G (p.Thr944Ser)
c.655+2846C>G (n.655+2846C>G)
c.1168-425C>G (n.1168-425C>G)
c.2762C>G (p.Thr921Ser)
c.2825C>G (p.Thr942Ser)
c.2813C>G (p.Thr938Ser)
2g.144398353G>TCA348706701ZEB2c.*2683C>A (n.*2683C>A)
c.2057C>A (p.Thr686Asn)
c.2834C>A (p.Thr945Asn)
n.2803C>A
c.2498C>A (p.Thr833Asn)
c.2909C>A (p.Thr970Asn)
c.*2551C>A (n.*2551C>A)
n.2934C>A
c.365C>A (p.Thr122Asn)
c.2831C>A (p.Thr944Asn)
c.655+2846C>A (n.655+2846C>A)
c.1168-425C>A (n.1168-425C>A)
c.2762C>A (p.Thr921Asn)
c.2825C>A (p.Thr942Asn)
c.2813C>A (p.Thr938Asn)
2g.144398354T>ACA348706706ZEB2c.*2682A>T (n.*2682A>T)
c.2056A>T (p.Thr686Ser)
c.2833A>T (p.Thr945Ser)
n.2802A>T
c.2497A>T (p.Thr833Ser)
c.2908A>T (p.Thr970Ser)
c.*2550A>T (n.*2550A>T)
n.2933A>T
c.364A>T (p.Thr122Ser)
c.2830A>T (p.Thr944Ser)
c.655+2845A>T (n.655+2845A>T)
c.1168-426A>T (n.1168-426A>T)
c.2761A>T (p.Thr921Ser)
c.2824A>T (p.Thr942Ser)
c.2812A>T (p.Thr938Ser)
2g.144398354T>CCA348706708ZEB2c.*2682A>G (n.*2682A>G)
c.2056A>G (p.Thr686Ala)
c.2833A>G (p.Thr945Ala)
n.2802A>G
c.2497A>G (p.Thr833Ala)
c.2908A>G (p.Thr970Ala)
c.*2550A>G (n.*2550A>G)
n.2933A>G
c.364A>G (p.Thr122Ala)
c.2830A>G (p.Thr944Ala)
c.655+2845A>G (n.655+2845A>G)
c.1168-426A>G (n.1168-426A>G)
c.2761A>G (p.Thr921Ala)
c.2824A>G (p.Thr942Ala)
c.2812A>G (p.Thr938Ala)
 dbSNP
2g.144398354T>GCA348706710ZEB2c.*2682A>C (n.*2682A>C)
c.2056A>C (p.Thr686Pro)
c.2833A>C (p.Thr945Pro)
n.2802A>C
c.2497A>C (p.Thr833Pro)
c.2908A>C (p.Thr970Pro)
c.*2550A>C (n.*2550A>C)
n.2933A>C
c.364A>C (p.Thr122Pro)
c.2830A>C (p.Thr944Pro)
c.655+2845A>C (n.655+2845A>C)
c.1168-426A>C (n.1168-426A>C)
c.2761A>C (p.Thr921Pro)
c.2824A>C (p.Thr942Pro)
c.2812A>C (p.Thr938Pro)
2g.144398354T=CA1294884859ZEB2c.*2682A= (n.*2682A=)
c.2056A= (p.Thr686=)
c.2833A= (p.Thr945=)
n.2802A=
c.2497A= (p.Thr833=)
c.2908A= (p.Thr970=)
c.*2550A= (n.*2550A=)
n.2933A=
c.364A= (p.Thr122=)
c.2830A= (p.Thr944=)
c.655+2845A= (n.655+2845A=)
c.1168-426A= (n.1168-426A=)
c.2761A= (p.Thr921=)
c.2824A= (p.Thr942=)
c.2812A= (p.Thr938=)
2g.144398355A=CA1294884860ZEB2c.*2681T= (n.*2681T=)
c.2055T= (p.Ala685=)
c.2832T= (p.Ala944=)
n.2801T=
c.2496T= (p.Ala832=)
c.2907T= (p.Ala969=)
c.*2549T= (n.*2549T=)
n.2932T=
c.363T= (p.Ala121=)
c.2829T= (p.Ala943=)
c.655+2844T= (n.655+2844T=)
c.1168-427T= (n.1168-427T=)
c.2760T= (p.Ala920=)
c.2823T= (p.Ala941=)
c.2811T= (p.Ala937=)
2g.144398355A>CCA429445008ZEB2c.*2681T>G (n.*2681T>G)
c.2055T>G (p.Ala685=)
c.2832T>G (p.Ala944=)
n.2801T>G
c.2496T>G (p.Ala832=)
c.2907T>G (p.Ala969=)
c.*2549T>G (n.*2549T>G)
n.2932T>G
c.363T>G (p.Ala121=)
c.2829T>G (p.Ala943=)
c.655+2844T>G (n.655+2844T>G)
c.1168-427T>G (n.1168-427T>G)
c.2760T>G (p.Ala920=)
c.2823T>G (p.Ala941=)
c.2811T>G (p.Ala937=)
2g.144398355A>GCA429445007ZEB2c.*2681T>C (n.*2681T>C)
c.2055T>C (p.Ala685=)
c.2832T>C (p.Ala944=)
n.2801T>C
c.2496T>C (p.Ala832=)
c.2907T>C (p.Ala969=)
c.*2549T>C (n.*2549T>C)
n.2932T>C
c.363T>C (p.Ala121=)
c.2829T>C (p.Ala943=)
c.655+2844T>C (n.655+2844T>C)
c.1168-427T>C (n.1168-427T>C)
c.2760T>C (p.Ala920=)
c.2823T>C (p.Ala941=)
c.2811T>C (p.Ala937=)
 ClinVar dbSNP gnomAD v2
2g.144398355A>TCA429445006ZEB2c.*2681T>A (n.*2681T>A)
c.2055T>A (p.Ala685=)
c.2832T>A (p.Ala944=)
n.2801T>A
c.2496T>A (p.Ala832=)
c.2907T>A (p.Ala969=)
c.*2549T>A (n.*2549T>A)
n.2932T>A
c.363T>A (p.Ala121=)
c.2829T>A (p.Ala943=)
c.655+2844T>A (n.655+2844T>A)
c.1168-427T>A (n.1168-427T>A)
c.2760T>A (p.Ala920=)
c.2823T>A (p.Ala941=)
c.2811T>A (p.Ala937=)
2g.144398356G>ACA348706713ZEB2c.*2680C>T (n.*2680C>T)
c.2054C>T (p.Ala685Val)
c.2831C>T (p.Ala944Val)
n.2800C>T
c.2495C>T (p.Ala832Val)
c.2906C>T (p.Ala969Val)
c.*2548C>T (n.*2548C>T)
n.2931C>T
c.362C>T (p.Ala121Val)
c.2828C>T (p.Ala943Val)
c.655+2843C>T (n.655+2843C>T)
c.1168-428C>T (n.1168-428C>T)
c.2759C>T (p.Ala920Val)
c.2822C>T (p.Ala941Val)
c.2810C>T (p.Ala937Val)
2g.144398356G>CCA348706714ZEB2c.*2680C>G (n.*2680C>G)
c.2054C>G (p.Ala685Gly)
c.2831C>G (p.Ala944Gly)
n.2800C>G
c.2495C>G (p.Ala832Gly)
c.2906C>G (p.Ala969Gly)
c.*2548C>G (n.*2548C>G)
n.2931C>G
c.362C>G (p.Ala121Gly)
c.2828C>G (p.Ala943Gly)
c.655+2843C>G (n.655+2843C>G)
c.1168-428C>G (n.1168-428C>G)
c.2759C>G (p.Ala920Gly)
c.2822C>G (p.Ala941Gly)
c.2810C>G (p.Ala937Gly)
2g.144398356G>TCA348706716ZEB2c.*2680C>A (n.*2680C>A)
c.2054C>A (p.Ala685Asp)
c.2831C>A (p.Ala944Asp)
n.2800C>A
c.2495C>A (p.Ala832Asp)
c.2906C>A (p.Ala969Asp)
c.*2548C>A (n.*2548C>A)
n.2931C>A
c.362C>A (p.Ala121Asp)
c.2828C>A (p.Ala943Asp)
c.655+2843C>A (n.655+2843C>A)
c.1168-428C>A (n.1168-428C>A)
c.2759C>A (p.Ala920Asp)
c.2822C>A (p.Ala941Asp)
c.2810C>A (p.Ala937Asp)
2g.144398357C>ACA348706719ZEB2c.*2679G>T (n.*2679G>T)
c.2053G>T (p.Ala685Ser)
c.2830G>T (p.Ala944Ser)
n.2799G>T
c.2494G>T (p.Ala832Ser)
c.2905G>T (p.Ala969Ser)
c.*2547G>T (n.*2547G>T)
n.2930G>T
c.361G>T (p.Ala121Ser)
c.2827G>T (p.Ala943Ser)
c.655+2842G>T (n.655+2842G>T)
c.1168-429G>T (n.1168-429G>T)
c.2758G>T (p.Ala920Ser)
c.2821G>T (p.Ala941Ser)
c.2809G>T (p.Ala937Ser)
2g.144398357C>GCA348706721ZEB2c.*2679G>C (n.*2679G>C)
c.2053G>C (p.Ala685Pro)
c.2830G>C (p.Ala944Pro)
n.2799G>C
c.2494G>C (p.Ala832Pro)
c.2905G>C (p.Ala969Pro)
c.*2547G>C (n.*2547G>C)
n.2930G>C
c.361G>C (p.Ala121Pro)
c.2827G>C (p.Ala943Pro)
c.655+2842G>C (n.655+2842G>C)
c.1168-429G>C (n.1168-429G>C)
c.2758G>C (p.Ala920Pro)
c.2821G>C (p.Ala941Pro)
c.2809G>C (p.Ala937Pro)
2g.144398357C>TCA348706723ZEB2c.*2679G>A (n.*2679G>A)
c.2053G>A (p.Ala685Thr)
c.2830G>A (p.Ala944Thr)
n.2799G>A
c.2494G>A (p.Ala832Thr)
c.2905G>A (p.Ala969Thr)
c.*2547G>A (n.*2547G>A)
n.2930G>A
c.361G>A (p.Ala121Thr)
c.2827G>A (p.Ala943Thr)
c.655+2842G>A (n.655+2842G>A)
c.1168-429G>A (n.1168-429G>A)
c.2758G>A (p.Ala920Thr)
c.2821G>A (p.Ala941Thr)
c.2809G>A (p.Ala937Thr)
2g.144398358T>ACA429445011ZEB2c.*2678A>T (n.*2678A>T)
c.2052A>T (p.Ala684=)
c.2829A>T (p.Ala943=)
n.2798A>T
c.2493A>T (p.Ala831=)
c.2904A>T (p.Ala968=)
c.*2546A>T (n.*2546A>T)
n.2929A>T
c.360A>T (p.Ala120=)
c.2826A>T (p.Ala942=)
c.655+2841A>T (n.655+2841A>T)
c.1168-430A>T (n.1168-430A>T)
c.2757A>T (p.Ala919=)
c.2820A>T (p.Ala940=)
c.2808A>T (p.Ala936=)
2g.144398358T>CCA429445014ZEB2c.*2678A>G (n.*2678A>G)
c.2052A>G (p.Ala684=)
c.2829A>G (p.Ala943=)
n.2798A>G
c.2493A>G (p.Ala831=)
c.2904A>G (p.Ala968=)
c.*2546A>G (n.*2546A>G)
n.2929A>G
c.360A>G (p.Ala120=)
c.2826A>G (p.Ala942=)
c.655+2841A>G (n.655+2841A>G)
c.1168-430A>G (n.1168-430A>G)
c.2757A>G (p.Ala919=)
c.2820A>G (p.Ala940=)
c.2808A>G (p.Ala936=)
2g.144398358T>GCA429445012ZEB2c.*2678A>C (n.*2678A>C)
c.2052A>C (p.Ala684=)
c.2829A>C (p.Ala943=)
n.2798A>C
c.2493A>C (p.Ala831=)
c.2904A>C (p.Ala968=)
c.*2546A>C (n.*2546A>C)
n.2929A>C
c.360A>C (p.Ala120=)
c.2826A>C (p.Ala942=)
c.655+2841A>C (n.655+2841A>C)
c.1168-430A>C (n.1168-430A>C)
c.2757A>C (p.Ala919=)
c.2820A>C (p.Ala940=)
c.2808A>C (p.Ala936=)
2g.144398359G>ACA348706726ZEB2c.*2677C>T (n.*2677C>T)
c.2051C>T (p.Ala684Val)
c.2828C>T (p.Ala943Val)
n.2797C>T
c.2492C>T (p.Ala831Val)
c.2903C>T (p.Ala968Val)
c.*2545C>T (n.*2545C>T)
n.2928C>T
c.359C>T (p.Ala120Val)
c.2825C>T (p.Ala942Val)
c.655+2840C>T (n.655+2840C>T)
c.1168-431C>T (n.1168-431C>T)
c.2756C>T (p.Ala919Val)
c.2819C>T (p.Ala940Val)
c.2807C>T (p.Ala936Val)
2g.144398359G>CCA348706728ZEB2c.*2677C>G (n.*2677C>G)
c.2051C>G (p.Ala684Gly)
c.2828C>G (p.Ala943Gly)
n.2797C>G
c.2492C>G (p.Ala831Gly)
c.2903C>G (p.Ala968Gly)
c.*2545C>G (n.*2545C>G)
n.2928C>G
c.359C>G (p.Ala120Gly)
c.2825C>G (p.Ala942Gly)
c.655+2840C>G (n.655+2840C>G)
c.1168-431C>G (n.1168-431C>G)
c.2756C>G (p.Ala919Gly)
c.2819C>G (p.Ala940Gly)
c.2807C>G (p.Ala936Gly)
 dbSNP
2g.144398359G=CA1294884861ZEB2c.*2677C= (n.*2677C=)
c.2051C= (p.Ala684=)
c.2828C= (p.Ala943=)
n.2797C=
c.2492C= (p.Ala831=)
c.2903C= (p.Ala968=)
c.*2545C= (n.*2545C=)
n.2928C=
c.359C= (p.Ala120=)
c.2825C= (p.Ala942=)
c.655+2840C= (n.655+2840C=)
c.1168-431C= (n.1168-431C=)
c.2756C= (p.Ala919=)
c.2819C= (p.Ala940=)
c.2807C= (p.Ala936=)
2g.144398359G>TCA348706730ZEB2c.*2677C>A (n.*2677C>A)
c.2051C>A (p.Ala684Glu)
c.2828C>A (p.Ala943Glu)
n.2797C>A
c.2492C>A (p.Ala831Glu)
c.2903C>A (p.Ala968Glu)
c.*2545C>A (n.*2545C>A)
n.2928C>A
c.359C>A (p.Ala120Glu)
c.2825C>A (p.Ala942Glu)
c.655+2840C>A (n.655+2840C>A)
c.1168-431C>A (n.1168-431C>A)
c.2756C>A (p.Ala919Glu)
c.2819C>A (p.Ala940Glu)
c.2807C>A (p.Ala936Glu)
2g.144398360C>ACA348706733ZEB2c.*2676G>T (n.*2676G>T)
c.2050G>T (p.Ala684Ser)
c.2827G>T (p.Ala943Ser)
n.2796G>T
c.2491G>T (p.Ala831Ser)
c.2902G>T (p.Ala968Ser)
c.*2544G>T (n.*2544G>T)
n.2927G>T
c.358G>T (p.Ala120Ser)
c.2824G>T (p.Ala942Ser)
c.655+2839G>T (n.655+2839G>T)
c.1168-432G>T (n.1168-432G>T)
c.2755G>T (p.Ala919Ser)
c.2818G>T (p.Ala940Ser)
c.2806G>T (p.Ala936Ser)
2g.144398360C>GCA348706737ZEB2c.*2676G>C (n.*2676G>C)
c.2050G>C (p.Ala684Pro)
c.2827G>C (p.Ala943Pro)
n.2796G>C
c.2491G>C (p.Ala831Pro)
c.2902G>C (p.Ala968Pro)
c.*2544G>C (n.*2544G>C)
n.2927G>C
c.358G>C (p.Ala120Pro)
c.2824G>C (p.Ala942Pro)
c.655+2839G>C (n.655+2839G>C)
c.1168-432G>C (n.1168-432G>C)
c.2755G>C (p.Ala919Pro)
c.2818G>C (p.Ala940Pro)
c.2806G>C (p.Ala936Pro)
2g.144398360C>TCA348706735ZEB2c.*2676G>A (n.*2676G>A)
c.2050G>A (p.Ala684Thr)
c.2827G>A (p.Ala943Thr)
n.2796G>A
c.2491G>A (p.Ala831Thr)
c.2902G>A (p.Ala968Thr)
c.*2544G>A (n.*2544G>A)
n.2927G>A
c.358G>A (p.Ala120Thr)
c.2824G>A (p.Ala942Thr)
c.655+2839G>A (n.655+2839G>A)
c.1168-432G>A (n.1168-432G>A)
c.2755G>A (p.Ala919Thr)
c.2818G>A (p.Ala940Thr)
c.2806G>A (p.Ala936Thr)
 gnomAD v4
2g.144398361T>ACA429445015ZEB2c.*2675A>T (n.*2675A>T)
c.2049A>T (p.Gly683=)
c.2826A>T (p.Gly942=)
n.2795A>T
c.2490A>T (p.Gly830=)
c.2901A>T (p.Gly967=)
c.*2543A>T (n.*2543A>T)
n.2926A>T
c.357A>T (p.Gly119=)
c.2823A>T (p.Gly941=)
c.655+2838A>T (n.655+2838A>T)
c.1168-433A>T (n.1168-433A>T)
c.2754A>T (p.Gly918=)
c.2817A>T (p.Gly939=)
c.2805A>T (p.Gly935=)
2g.144398361T>CCA1898207ZEB2c.*2675A>G (n.*2675A>G)
c.2049A>G (p.Gly683=)
c.2826A>G (p.Gly942=)
n.2795A>G
c.2490A>G (p.Gly830=)
c.2901A>G (p.Gly967=)
c.*2543A>G (n.*2543A>G)
n.2926A>G
c.357A>G (p.Gly119=)
c.2823A>G (p.Gly941=)
c.655+2838A>G (n.655+2838A>G)
c.1168-433A>G (n.1168-433A>G)
c.2754A>G (p.Gly918=)
c.2817A>G (p.Gly939=)
c.2805A>G (p.Gly935=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.144398361T>GCA429445016ZEB2c.*2675A>C (n.*2675A>C)
c.2049A>C (p.Gly683=)
c.2826A>C (p.Gly942=)
n.2795A>C
c.2490A>C (p.Gly830=)
c.2901A>C (p.Gly967=)
c.*2543A>C (n.*2543A>C)
n.2926A>C
c.357A>C (p.Gly119=)
c.2823A>C (p.Gly941=)
c.655+2838A>C (n.655+2838A>C)
c.1168-433A>C (n.1168-433A>C)
c.2754A>C (p.Gly918=)
c.2817A>C (p.Gly939=)
c.2805A>C (p.Gly935=)
2g.144398361T=CA1294884862ZEB2c.*2675A= (n.*2675A=)
c.2049A= (p.Gly683=)
c.2826A= (p.Gly942=)
n.2795A=
c.2490A= (p.Gly830=)
c.2901A= (p.Gly967=)
c.*2543A= (n.*2543A=)
n.2926A=
c.357A= (p.Gly119=)
c.2823A= (p.Gly941=)
c.655+2838A= (n.655+2838A=)
c.1168-433A= (n.1168-433A=)
c.2754A= (p.Gly918=)
c.2817A= (p.Gly939=)
c.2805A= (p.Gly935=)
2g.144398362C>ACA348706746ZEB2c.*2674G>T (n.*2674G>T)
c.2048G>T (p.Gly683Val)
c.2825G>T (p.Gly942Val)
n.2794G>T
c.2489G>T (p.Gly830Val)
c.2900G>T (p.Gly967Val)
c.*2542G>T (n.*2542G>T)
n.2925G>T
c.356G>T (p.Gly119Val)
c.2822G>T (p.Gly941Val)
c.655+2837G>T (n.655+2837G>T)
c.1168-434G>T (n.1168-434G>T)
c.2753G>T (p.Gly918Val)
c.2816G>T (p.Gly939Val)
c.2804G>T (p.Gly935Val)
 ClinVar dbSNP
2g.144398362C=CA1294884863ZEB2c.*2674G= (n.*2674G=)
c.2048G= (p.Gly683=)
c.2825G= (p.Gly942=)
n.2794G=
c.2489G= (p.Gly830=)
c.2900G= (p.Gly967=)
c.*2542G= (n.*2542G=)
n.2925G=
c.356G= (p.Gly119=)
c.2822G= (p.Gly941=)
c.655+2837G= (n.655+2837G=)
c.1168-434G= (n.1168-434G=)
c.2753G= (p.Gly918=)
c.2816G= (p.Gly939=)
c.2804G= (p.Gly935=)
2g.144398362C>GCA348706743ZEB2c.*2674G>C (n.*2674G>C)
c.2048G>C (p.Gly683Ala)
c.2825G>C (p.Gly942Ala)
n.2794G>C
c.2489G>C (p.Gly830Ala)
c.2900G>C (p.Gly967Ala)
c.*2542G>C (n.*2542G>C)
n.2925G>C
c.356G>C (p.Gly119Ala)
c.2822G>C (p.Gly941Ala)
c.655+2837G>C (n.655+2837G>C)
c.1168-434G>C (n.1168-434G>C)
c.2753G>C (p.Gly918Ala)
c.2816G>C (p.Gly939Ala)
c.2804G>C (p.Gly935Ala)
2g.144398362C>TCA348706745ZEB2c.*2674G>A (n.*2674G>A)
c.2048G>A (p.Gly683Glu)
c.2825G>A (p.Gly942Glu)
n.2794G>A
c.2489G>A (p.Gly830Glu)
c.2900G>A (p.Gly967Glu)
c.*2542G>A (n.*2542G>A)
n.2925G>A
c.356G>A (p.Gly119Glu)
c.2822G>A (p.Gly941Glu)
c.655+2837G>A (n.655+2837G>A)
c.1168-434G>A (n.1168-434G>A)
c.2753G>A (p.Gly918Glu)
c.2816G>A (p.Gly939Glu)
c.2804G>A (p.Gly935Glu)
 gnomAD v4
2g.144398363C>ACA348706749ZEB2c.*2673G>T (n.*2673G>T)
c.2047G>T (p.Gly683Ter)
c.2824G>T (p.Gly942Ter)
n.2793G>T
c.2488G>T (p.Gly830Ter)
c.2899G>T (p.Gly967Ter)
c.*2541G>T (n.*2541G>T)
n.2924G>T
c.355G>T (p.Gly119Ter)
c.2821G>T (p.Gly941Ter)
c.655+2836G>T (n.655+2836G>T)
c.1168-435G>T (n.1168-435G>T)
c.2752G>T (p.Gly918Ter)
c.2815G>T (p.Gly939Ter)
c.2803G>T (p.Gly935Ter)
2g.144398363C=CA1294884864ZEB2c.*2673G= (n.*2673G=)
c.2047G= (p.Gly683=)
c.2824G= (p.Gly942=)
n.2793G=
c.2488G= (p.Gly830=)
c.2899G= (p.Gly967=)
c.*2541G= (n.*2541G=)
n.2924G=
c.355G= (p.Gly119=)
c.2821G= (p.Gly941=)
c.655+2836G= (n.655+2836G=)
c.1168-435G= (n.1168-435G=)
c.2752G= (p.Gly918=)
c.2815G= (p.Gly939=)
c.2803G= (p.Gly935=)
2g.144398363C>GCA348706751ZEB2c.*2673G>C (n.*2673G>C)
c.2047G>C (p.Gly683Arg)
c.2824G>C (p.Gly942Arg)
n.2793G>C
c.2488G>C (p.Gly830Arg)
c.2899G>C (p.Gly967Arg)
c.*2541G>C (n.*2541G>C)
n.2924G>C
c.355G>C (p.Gly119Arg)
c.2821G>C (p.Gly941Arg)
c.655+2836G>C (n.655+2836G>C)
c.1168-435G>C (n.1168-435G>C)
c.2752G>C (p.Gly918Arg)
c.2815G>C (p.Gly939Arg)
c.2803G>C (p.Gly935Arg)
2g.144398363C>TCA348706753ZEB2c.*2673G>A (n.*2673G>A)
c.2047G>A (p.Gly683Arg)
c.2824G>A (p.Gly942Arg)
n.2793G>A
c.2488G>A (p.Gly830Arg)
c.2899G>A (p.Gly967Arg)
c.*2541G>A (n.*2541G>A)
n.2924G>A
c.355G>A (p.Gly119Arg)
c.2821G>A (p.Gly941Arg)
c.655+2836G>A (n.655+2836G>A)
c.1168-435G>A (n.1168-435G>A)
c.2752G>A (p.Gly918Arg)
c.2815G>A (p.Gly939Arg)
c.2803G>A (p.Gly935Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.144398364A=CA1294884865ZEB2c.*2672T= (n.*2672T=)
c.2046T= (p.Thr682=)
c.2823T= (p.Thr941=)
n.2792T=
c.2487T= (p.Thr829=)
c.2898T= (p.Thr966=)
c.*2540T= (n.*2540T=)
n.2923T=
c.354T= (p.Thr118=)
c.2820T= (p.Thr940=)
c.655+2835T= (n.655+2835T=)
c.1168-436T= (n.1168-436T=)
c.2751T= (p.Thr917=)
c.2814T= (p.Thr938=)
c.2802T= (p.Thr934=)
2g.144398364A>CCA429445018ZEB2c.*2672T>G (n.*2672T>G)
c.2046T>G (p.Thr682=)
c.2823T>G (p.Thr941=)
n.2792T>G
c.2487T>G (p.Thr829=)
c.2898T>G (p.Thr966=)
c.*2540T>G (n.*2540T>G)
n.2923T>G
c.354T>G (p.Thr118=)
c.2820T>G (p.Thr940=)
c.655+2835T>G (n.655+2835T>G)
c.1168-436T>G (n.1168-436T>G)
c.2751T>G (p.Thr917=)
c.2814T>G (p.Thr938=)
c.2802T>G (p.Thr934=)
2g.144398364A>GCA429445019ZEB2c.*2672T>C (n.*2672T>C)
c.2046T>C (p.Thr682=)
c.2823T>C (p.Thr941=)
n.2792T>C
c.2487T>C (p.Thr829=)
c.2898T>C (p.Thr966=)
c.*2540T>C (n.*2540T>C)
n.2923T>C
c.354T>C (p.Thr118=)
c.2820T>C (p.Thr940=)
c.655+2835T>C (n.655+2835T>C)
c.1168-436T>C (n.1168-436T>C)
c.2751T>C (p.Thr917=)
c.2814T>C (p.Thr938=)
c.2802T>C (p.Thr934=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.144398364A>TCA429445021ZEB2c.*2672T>A (n.*2672T>A)
c.2046T>A (p.Thr682=)
c.2823T>A (p.Thr941=)
n.2792T>A
c.2487T>A (p.Thr829=)
c.2898T>A (p.Thr966=)
c.*2540T>A (n.*2540T>A)
n.2923T>A
c.354T>A (p.Thr118=)
c.2820T>A (p.Thr940=)
c.655+2835T>A (n.655+2835T>A)
c.1168-436T>A (n.1168-436T>A)
c.2751T>A (p.Thr917=)
c.2814T>A (p.Thr938=)
c.2802T>A (p.Thr934=)
 ClinVar
2g.144398365G>ACA348706760ZEB2c.*2671C>T (n.*2671C>T)
c.2045C>T (p.Thr682Ile)
c.2822C>T (p.Thr941Ile)
n.2791C>T
c.2486C>T (p.Thr829Ile)
c.2897C>T (p.Thr966Ile)
c.*2539C>T (n.*2539C>T)
n.2922C>T
c.353C>T (p.Thr118Ile)
c.2819C>T (p.Thr940Ile)
c.655+2834C>T (n.655+2834C>T)
c.1168-437C>T (n.1168-437C>T)
c.2750C>T (p.Thr917Ile)
c.2813C>T (p.Thr938Ile)
c.2801C>T (p.Thr934Ile)
2g.144398365G>CCA348706758ZEB2c.*2671C>G (n.*2671C>G)
c.2045C>G (p.Thr682Ser)
c.2822C>G (p.Thr941Ser)
n.2791C>G
c.2486C>G (p.Thr829Ser)
c.2897C>G (p.Thr966Ser)
c.*2539C>G (n.*2539C>G)
n.2922C>G
c.353C>G (p.Thr118Ser)
c.2819C>G (p.Thr940Ser)
c.655+2834C>G (n.655+2834C>G)
c.1168-437C>G (n.1168-437C>G)
c.2750C>G (p.Thr917Ser)
c.2813C>G (p.Thr938Ser)
c.2801C>G (p.Thr934Ser)
2g.144398365G>TCA348706756ZEB2c.*2671C>A (n.*2671C>A)
c.2045C>A (p.Thr682Asn)
c.2822C>A (p.Thr941Asn)
n.2791C>A
c.2486C>A (p.Thr829Asn)
c.2897C>A (p.Thr966Asn)
c.*2539C>A (n.*2539C>A)
n.2922C>A
c.353C>A (p.Thr118Asn)
c.2819C>A (p.Thr940Asn)
c.655+2834C>A (n.655+2834C>A)
c.1168-437C>A (n.1168-437C>A)
c.2750C>A (p.Thr917Asn)
c.2813C>A (p.Thr938Asn)
c.2801C>A (p.Thr934Asn)
2g.144398366T>ACA348706764ZEB2c.*2670A>T (n.*2670A>T)
c.2044A>T (p.Thr682Ser)
c.2821A>T (p.Thr941Ser)
n.2790A>T
c.2485A>T (p.Thr829Ser)
c.2896A>T (p.Thr966Ser)
c.*2538A>T (n.*2538A>T)
n.2921A>T
c.352A>T (p.Thr118Ser)
c.2818A>T (p.Thr940Ser)
c.655+2833A>T (n.655+2833A>T)
c.1168-438A>T (n.1168-438A>T)
c.2749A>T (p.Thr917Ser)
c.2812A>T (p.Thr938Ser)
c.2800A>T (p.Thr934Ser)
2g.144398366T>CCA348706765ZEB2c.*2670A>G (n.*2670A>G)
c.2044A>G (p.Thr682Ala)
c.2821A>G (p.Thr941Ala)
n.2790A>G
c.2485A>G (p.Thr829Ala)
c.2896A>G (p.Thr966Ala)
c.*2538A>G (n.*2538A>G)
n.2921A>G
c.352A>G (p.Thr118Ala)
c.2818A>G (p.Thr940Ala)
c.655+2833A>G (n.655+2833A>G)
c.1168-438A>G (n.1168-438A>G)
c.2749A>G (p.Thr917Ala)
c.2812A>G (p.Thr938Ala)
c.2800A>G (p.Thr934Ala)
2g.144398366T>GCA348706767ZEB2c.*2670A>C (n.*2670A>C)
c.2044A>C (p.Thr682Pro)
c.2821A>C (p.Thr941Pro)
n.2790A>C
c.2485A>C (p.Thr829Pro)
c.2896A>C (p.Thr966Pro)
c.*2538A>C (n.*2538A>C)
n.2921A>C
c.352A>C (p.Thr118Pro)
c.2818A>C (p.Thr940Pro)
c.655+2833A>C (n.655+2833A>C)
c.1168-438A>C (n.1168-438A>C)
c.2749A>C (p.Thr917Pro)
c.2812A>C (p.Thr938Pro)
c.2800A>C (p.Thr934Pro)
2g.144398367T>ACA429445023ZEB2c.*2669A>T (n.*2669A>T)
c.2043A>T (p.Pro681=)
c.2820A>T (p.Pro940=)
n.2789A>T
c.2484A>T (p.Pro828=)
c.2895A>T (p.Pro965=)
c.*2537A>T (n.*2537A>T)
n.2920A>T
c.351A>T (p.Pro117=)
c.2817A>T (p.Pro939=)
c.655+2832A>T (n.655+2832A>T)
c.1168-439A>T (n.1168-439A>T)
c.2748A>T (p.Pro916=)
c.2811A>T (p.Pro937=)
c.2799A>T (p.Pro933=)
2g.144398367T>CCA429445024ZEB2c.*2669A>G (n.*2669A>G)
c.2043A>G (p.Pro681=)
c.2820A>G (p.Pro940=)
n.2789A>G
c.2484A>G (p.Pro828=)
c.2895A>G (p.Pro965=)
c.*2537A>G (n.*2537A>G)
n.2920A>G
c.351A>G (p.Pro117=)
c.2817A>G (p.Pro939=)
c.655+2832A>G (n.655+2832A>G)
c.1168-439A>G (n.1168-439A>G)
c.2748A>G (p.Pro916=)
c.2811A>G (p.Pro937=)
c.2799A>G (p.Pro933=)
2g.144398367T>GCA429445025ZEB2c.*2669A>C (n.*2669A>C)
c.2043A>C (p.Pro681=)
c.2820A>C (p.Pro940=)
n.2789A>C
c.2484A>C (p.Pro828=)
c.2895A>C (p.Pro965=)
c.*2537A>C (n.*2537A>C)
n.2920A>C
c.351A>C (p.Pro117=)
c.2817A>C (p.Pro939=)
c.655+2832A>C (n.655+2832A>C)
c.1168-439A>C (n.1168-439A>C)
c.2748A>C (p.Pro916=)
c.2811A>C (p.Pro937=)
c.2799A>C (p.Pro933=)
2g.144398368G>ACA348706771ZEB2c.*2668C>T (n.*2668C>T)
c.2042C>T (p.Pro681Leu)
c.2819C>T (p.Pro940Leu)
n.2788C>T
c.2483C>T (p.Pro828Leu)
c.2894C>T (p.Pro965Leu)
c.*2536C>T (n.*2536C>T)
n.2919C>T
c.350C>T (p.Pro117Leu)
c.2816C>T (p.Pro939Leu)
c.655+2831C>T (n.655+2831C>T)
c.1168-440C>T (n.1168-440C>T)
c.2747C>T (p.Pro916Leu)
c.2810C>T (p.Pro937Leu)
c.2798C>T (p.Pro933Leu)
2g.144398368G>CCA348706773ZEB2c.*2668C>G (n.*2668C>G)
c.2042C>G (p.Pro681Arg)
c.2819C>G (p.Pro940Arg)
n.2788C>G
c.2483C>G (p.Pro828Arg)
c.2894C>G (p.Pro965Arg)
c.*2536C>G (n.*2536C>G)
n.2919C>G
c.350C>G (p.Pro117Arg)
c.2816C>G (p.Pro939Arg)
c.655+2831C>G (n.655+2831C>G)
c.1168-440C>G (n.1168-440C>G)
c.2747C>G (p.Pro916Arg)
c.2810C>G (p.Pro937Arg)
c.2798C>G (p.Pro933Arg)
2g.144398368G>TCA348706775ZEB2c.*2668C>A (n.*2668C>A)
c.2042C>A (p.Pro681Gln)
c.2819C>A (p.Pro940Gln)
n.2788C>A
c.2483C>A (p.Pro828Gln)
c.2894C>A (p.Pro965Gln)
c.*2536C>A (n.*2536C>A)
n.2919C>A
c.350C>A (p.Pro117Gln)
c.2816C>A (p.Pro939Gln)
c.655+2831C>A (n.655+2831C>A)
c.1168-440C>A (n.1168-440C>A)
c.2747C>A (p.Pro916Gln)
c.2810C>A (p.Pro937Gln)
c.2798C>A (p.Pro933Gln)
 gnomAD v4
2g.144398369G>ACA348706778ZEB2c.*2667C>T (n.*2667C>T)
c.2041C>T (p.Pro681Ser)
c.2818C>T (p.Pro940Ser)
n.2787C>T
c.2482C>T (p.Pro828Ser)
c.2893C>T (p.Pro965Ser)
c.*2535C>T (n.*2535C>T)
n.2918C>T
c.349C>T (p.Pro117Ser)
c.2815C>T (p.Pro939Ser)
c.655+2830C>T (n.655+2830C>T)
c.1168-441C>T (n.1168-441C>T)
c.2746C>T (p.Pro916Ser)
c.2809C>T (p.Pro937Ser)
c.2797C>T (p.Pro933Ser)
2g.144398369G>CCA348706783ZEB2c.*2667C>G (n.*2667C>G)
c.2041C>G (p.Pro681Ala)
c.2818C>G (p.Pro940Ala)
n.2787C>G
c.2482C>G (p.Pro828Ala)
c.2893C>G (p.Pro965Ala)
c.*2535C>G (n.*2535C>G)
n.2918C>G
c.349C>G (p.Pro117Ala)
c.2815C>G (p.Pro939Ala)
c.655+2830C>G (n.655+2830C>G)
c.1168-441C>G (n.1168-441C>G)
c.2746C>G (p.Pro916Ala)
c.2809C>G (p.Pro937Ala)
c.2797C>G (p.Pro933Ala)
2g.144398369G>TCA348706780ZEB2c.*2667C>A (n.*2667C>A)
c.2041C>A (p.Pro681Thr)
c.2818C>A (p.Pro940Thr)
n.2787C>A
c.2482C>A (p.Pro828Thr)
c.2893C>A (p.Pro965Thr)
c.*2535C>A (n.*2535C>A)
n.2918C>A
c.349C>A (p.Pro117Thr)
c.2815C>A (p.Pro939Thr)
c.655+2830C>A (n.655+2830C>A)
c.1168-441C>A (n.1168-441C>A)
c.2746C>A (p.Pro916Thr)
c.2809C>A (p.Pro937Thr)
c.2797C>A (p.Pro933Thr)
2g.144398370G>ACA429445027ZEB2c.*2666C>T (n.*2666C>T)
c.2040C>T (p.Tyr680=)
c.2817C>T (p.Tyr939=)
n.2786C>T
c.2481C>T (p.Tyr827=)
c.2892C>T (p.Tyr964=)
c.*2534C>T (n.*2534C>T)
n.2917C>T
c.348C>T (p.Tyr116=)
c.2814C>T (p.Tyr938=)
c.655+2829C>T (n.655+2829C>T)
c.1168-442C>T (n.1168-442C>T)
c.2745C>T (p.Tyr915=)
c.2808C>T (p.Tyr936=)
c.2796C>T (p.Tyr932=)
 gnomAD v4
2g.144398370G>CCA348706786ZEB2c.*2666C>G (n.*2666C>G)
c.2040C>G (p.Tyr680Ter)
c.2817C>G (p.Tyr939Ter)
n.2786C>G
c.2481C>G (p.Tyr827Ter)
c.2892C>G (p.Tyr964Ter)
c.*2534C>G (n.*2534C>G)
n.2917C>G
c.348C>G (p.Tyr116Ter)
c.2814C>G (p.Tyr938Ter)
c.655+2829C>G (n.655+2829C>G)
c.1168-442C>G (n.1168-442C>G)
c.2745C>G (p.Tyr915Ter)
c.2808C>G (p.Tyr936Ter)
c.2796C>G (p.Tyr932Ter)
2g.144398370G>TCA348706787ZEB2c.*2666C>A (n.*2666C>A)
c.2040C>A (p.Tyr680Ter)
c.2817C>A (p.Tyr939Ter)
n.2786C>A
c.2481C>A (p.Tyr827Ter)
c.2892C>A (p.Tyr964Ter)
c.*2534C>A (n.*2534C>A)
n.2917C>A
c.348C>A (p.Tyr116Ter)
c.2814C>A (p.Tyr938Ter)
c.655+2829C>A (n.655+2829C>A)
c.1168-442C>A (n.1168-442C>A)
c.2745C>A (p.Tyr915Ter)
c.2808C>A (p.Tyr936Ter)
c.2796C>A (p.Tyr932Ter)
2g.144398371T>ACA348706790ZEB2c.*2665A>T (n.*2665A>T)
c.2039A>T (p.Tyr680Phe)
c.2816A>T (p.Tyr939Phe)
n.2785A>T
c.2480A>T (p.Tyr827Phe)
c.2891A>T (p.Tyr964Phe)
c.*2533A>T (n.*2533A>T)
n.2916A>T
c.347A>T (p.Tyr116Phe)
c.2813A>T (p.Tyr938Phe)
c.655+2828A>T (n.655+2828A>T)
c.1168-443A>T (n.1168-443A>T)
c.2744A>T (p.Tyr915Phe)
c.2807A>T (p.Tyr936Phe)
c.2795A>T (p.Tyr932Phe)
2g.144398371T>CCA348706792ZEB2c.*2665A>G (n.*2665A>G)
c.2039A>G (p.Tyr680Cys)
c.2816A>G (p.Tyr939Cys)
n.2785A>G
c.2480A>G (p.Tyr827Cys)
c.2891A>G (p.Tyr964Cys)
c.*2533A>G (n.*2533A>G)
n.2916A>G
c.347A>G (p.Tyr116Cys)
c.2813A>G (p.Tyr938Cys)
c.655+2828A>G (n.655+2828A>G)
c.1168-443A>G (n.1168-443A>G)
c.2744A>G (p.Tyr915Cys)
c.2807A>G (p.Tyr936Cys)
c.2795A>G (p.Tyr932Cys)
 gnomAD v4
2g.144398371T>GCA348706794ZEB2c.*2665A>C (n.*2665A>C)
c.2039A>C (p.Tyr680Ser)
c.2816A>C (p.Tyr939Ser)
n.2785A>C
c.2480A>C (p.Tyr827Ser)
c.2891A>C (p.Tyr964Ser)
c.*2533A>C (n.*2533A>C)
n.2916A>C
c.347A>C (p.Tyr116Ser)
c.2813A>C (p.Tyr938Ser)
c.655+2828A>C (n.655+2828A>C)
c.1168-443A>C (n.1168-443A>C)
c.2744A>C (p.Tyr915Ser)
c.2807A>C (p.Tyr936Ser)
c.2795A>C (p.Tyr932Ser)
 dbSNP
2g.144398371T=CA1294884866ZEB2c.*2665A= (n.*2665A=)
c.2039A= (p.Tyr680=)
c.2816A= (p.Tyr939=)
n.2785A=
c.2480A= (p.Tyr827=)
c.2891A= (p.Tyr964=)
c.*2533A= (n.*2533A=)
n.2916A=
c.347A= (p.Tyr116=)
c.2813A= (p.Tyr938=)
c.655+2828A= (n.655+2828A=)
c.1168-443A= (n.1168-443A=)
c.2744A= (p.Tyr915=)
c.2807A= (p.Tyr936=)
c.2795A= (p.Tyr932=)
2g.144398372A>CCA348706797ZEB2c.*2664T>G (n.*2664T>G)
c.2038T>G (p.Tyr680Asp)
c.2815T>G (p.Tyr939Asp)
n.2784T>G
c.2479T>G (p.Tyr827Asp)
c.2890T>G (p.Tyr964Asp)
c.*2532T>G (n.*2532T>G)
n.2915T>G
c.346T>G (p.Tyr116Asp)
c.2812T>G (p.Tyr938Asp)
c.655+2827T>G (n.655+2827T>G)
c.1168-444T>G (n.1168-444T>G)
c.2743T>G (p.Tyr915Asp)
c.2806T>G (p.Tyr936Asp)
c.2794T>G (p.Tyr932Asp)
2g.144398372A>GCA348706799ZEB2c.*2664T>C (n.*2664T>C)
c.2038T>C (p.Tyr680His)
c.2815T>C (p.Tyr939His)
n.2784T>C
c.2479T>C (p.Tyr827His)
c.2890T>C (p.Tyr964His)
c.*2532T>C (n.*2532T>C)
n.2915T>C
c.346T>C (p.Tyr116His)
c.2812T>C (p.Tyr938His)
c.655+2827T>C (n.655+2827T>C)
c.1168-444T>C (n.1168-444T>C)
c.2743T>C (p.Tyr915His)
c.2806T>C (p.Tyr936His)
c.2794T>C (p.Tyr932His)
2g.144398372A>TCA348706801ZEB2c.*2664T>A (n.*2664T>A)
c.2038T>A (p.Tyr680Asn)
c.2815T>A (p.Tyr939Asn)
n.2784T>A
c.2479T>A (p.Tyr827Asn)
c.2890T>A (p.Tyr964Asn)
c.*2532T>A (n.*2532T>A)
n.2915T>A
c.346T>A (p.Tyr116Asn)
c.2812T>A (p.Tyr938Asn)
c.655+2827T>A (n.655+2827T>A)
c.1168-444T>A (n.1168-444T>A)
c.2743T>A (p.Tyr915Asn)
c.2806T>A (p.Tyr936Asn)
c.2794T>A (p.Tyr932Asn)
2g.144398373G>ACA429445028ZEB2c.*2663C>T (n.*2663C>T)
c.2037C>T (p.Thr679=)
c.2814C>T (p.Thr938=)
n.2783C>T
c.2478C>T (p.Thr826=)
c.2889C>T (p.Thr963=)
c.*2531C>T (n.*2531C>T)
n.2914C>T
c.345C>T (p.Thr115=)
c.2811C>T (p.Thr937=)
c.655+2826C>T (n.655+2826C>T)
c.1168-445C>T (n.1168-445C>T)
c.2742C>T (p.Thr914=)
c.2805C>T (p.Thr935=)
c.2793C>T (p.Thr931=)
 dbSNP gnomAD v2 gnomAD v4
2g.144398373G>CCA429445030ZEB2c.*2663C>G (n.*2663C>G)
c.2037C>G (p.Thr679=)
c.2814C>G (p.Thr938=)
n.2783C>G
c.2478C>G (p.Thr826=)
c.2889C>G (p.Thr963=)
c.*2531C>G (n.*2531C>G)
n.2914C>G
c.345C>G (p.Thr115=)
c.2811C>G (p.Thr937=)
c.655+2826C>G (n.655+2826C>G)
c.1168-445C>G (n.1168-445C>G)
c.2742C>G (p.Thr914=)
c.2805C>G (p.Thr935=)
c.2793C>G (p.Thr931=)
 COSMIC
2g.144398373G=CA1294884867ZEB2c.*2663C= (n.*2663C=)
c.2037C= (p.Thr679=)
c.2814C= (p.Thr938=)
n.2783C=
c.2478C= (p.Thr826=)
c.2889C= (p.Thr963=)
c.*2531C= (n.*2531C=)
n.2914C=
c.345C= (p.Thr115=)
c.2811C= (p.Thr937=)
c.655+2826C= (n.655+2826C=)
c.1168-445C= (n.1168-445C=)
c.2742C= (p.Thr914=)
c.2805C= (p.Thr935=)
c.2793C= (p.Thr931=)
2g.144398373G>TCA429445029ZEB2c.*2663C>A (n.*2663C>A)
c.2037C>A (p.Thr679=)
c.2814C>A (p.Thr938=)
n.2783C>A
c.2478C>A (p.Thr826=)
c.2889C>A (p.Thr963=)
c.*2531C>A (n.*2531C>A)
n.2914C>A
c.345C>A (p.Thr115=)
c.2811C>A (p.Thr937=)
c.655+2826C>A (n.655+2826C>A)
c.1168-445C>A (n.1168-445C>A)
c.2742C>A (p.Thr914=)
c.2805C>A (p.Thr935=)
c.2793C>A (p.Thr931=)
2g.144398374G>ACA348706804ZEB2c.*2662C>T (n.*2662C>T)
c.2036C>T (p.Thr679Ile)
c.2813C>T (p.Thr938Ile)
n.2782C>T
c.2477C>T (p.Thr826Ile)
c.2888C>T (p.Thr963Ile)
c.*2530C>T (n.*2530C>T)
n.2913C>T
c.344C>T (p.Thr115Ile)
c.2810C>T (p.Thr937Ile)
c.655+2825C>T (n.655+2825C>T)
c.1168-446C>T (n.1168-446C>T)
c.2741C>T (p.Thr914Ile)
c.2804C>T (p.Thr935Ile)
c.2792C>T (p.Thr931Ile)
 dbSNP gnomAD v4
2g.144398374G>CCA348706806ZEB2c.*2662C>G (n.*2662C>G)
c.2036C>G (p.Thr679Ser)
c.2813C>G (p.Thr938Ser)
n.2782C>G
c.2477C>G (p.Thr826Ser)
c.2888C>G (p.Thr963Ser)
c.*2530C>G (n.*2530C>G)
n.2913C>G
c.344C>G (p.Thr115Ser)
c.2810C>G (p.Thr937Ser)
c.655+2825C>G (n.655+2825C>G)
c.1168-446C>G (n.1168-446C>G)
c.2741C>G (p.Thr914Ser)
c.2804C>G (p.Thr935Ser)
c.2792C>G (p.Thr931Ser)
 ClinVar gnomAD v4
2g.144398374G=CA1294884868ZEB2c.*2662C= (n.*2662C=)
c.2036C= (p.Thr679=)
c.2813C= (p.Thr938=)
n.2782C=
c.2477C= (p.Thr826=)
c.2888C= (p.Thr963=)
c.*2530C= (n.*2530C=)
n.2913C=
c.344C= (p.Thr115=)
c.2810C= (p.Thr937=)
c.655+2825C= (n.655+2825C=)
c.1168-446C= (n.1168-446C=)
c.2741C= (p.Thr914=)
c.2804C= (p.Thr935=)
c.2792C= (p.Thr931=)
2g.144398374G>TCA348706808ZEB2c.*2662C>A (n.*2662C>A)
c.2036C>A (p.Thr679Asn)
c.2813C>A (p.Thr938Asn)
n.2782C>A
c.2477C>A (p.Thr826Asn)
c.2888C>A (p.Thr963Asn)
c.*2530C>A (n.*2530C>A)
n.2913C>A
c.344C>A (p.Thr115Asn)
c.2810C>A (p.Thr937Asn)
c.655+2825C>A (n.655+2825C>A)
c.1168-446C>A (n.1168-446C>A)
c.2741C>A (p.Thr914Asn)
c.2804C>A (p.Thr935Asn)
c.2792C>A (p.Thr931Asn)
2g.144398375T>ACA348706811ZEB2c.*2661A>T (n.*2661A>T)
c.2035A>T (p.Thr679Ser)
c.2812A>T (p.Thr938Ser)
n.2781A>T
c.2476A>T (p.Thr826Ser)
c.2887A>T (p.Thr963Ser)
c.*2529A>T (n.*2529A>T)
n.2912A>T
c.343A>T (p.Thr115Ser)
c.2809A>T (p.Thr937Ser)
c.655+2824A>T (n.655+2824A>T)
c.1168-447A>T (n.1168-447A>T)
c.2740A>T (p.Thr914Ser)
c.2803A>T (p.Thr935Ser)
c.2791A>T (p.Thr931Ser)
2g.144398375T>CCA348706815ZEB2c.*2661A>G (n.*2661A>G)
c.2035A>G (p.Thr679Ala)
c.2812A>G (p.Thr938Ala)
n.2781A>G
c.2476A>G (p.Thr826Ala)
c.2887A>G (p.Thr963Ala)
c.*2529A>G (n.*2529A>G)
n.2912A>G
c.343A>G (p.Thr115Ala)
c.2809A>G (p.Thr937Ala)
c.655+2824A>G (n.655+2824A>G)
c.1168-447A>G (n.1168-447A>G)
c.2740A>G (p.Thr914Ala)
c.2803A>G (p.Thr935Ala)
c.2791A>G (p.Thr931Ala)
 dbSNP gnomAD v2 gnomAD v4
2g.144398375T>GCA348706813ZEB2c.*2661A>C (n.*2661A>C)
c.2035A>C (p.Thr679Pro)
c.2812A>C (p.Thr938Pro)
n.2781A>C
c.2476A>C (p.Thr826Pro)
c.2887A>C (p.Thr963Pro)
c.*2529A>C (n.*2529A>C)
n.2912A>C
c.343A>C (p.Thr115Pro)
c.2809A>C (p.Thr937Pro)
c.655+2824A>C (n.655+2824A>C)
c.1168-447A>C (n.1168-447A>C)
c.2740A>C (p.Thr914Pro)
c.2803A>C (p.Thr935Pro)
c.2791A>C (p.Thr931Pro)
 dbSNP
2g.144398375T=CA1294884869ZEB2c.*2661A= (n.*2661A=)
c.2035A= (p.Thr679=)
c.2812A= (p.Thr938=)
n.2781A=
c.2476A= (p.Thr826=)
c.2887A= (p.Thr963=)
c.*2529A= (n.*2529A=)
n.2912A=
c.343A= (p.Thr115=)
c.2809A= (p.Thr937=)
c.655+2824A= (n.655+2824A=)
c.1168-447A= (n.1168-447A=)
c.2740A= (p.Thr914=)
c.2803A= (p.Thr935=)
c.2791A= (p.Thr931=)
2g.144398376G>ACA429445032ZEB2c.*2660C>T (n.*2660C>T)
c.2034C>T (p.Tyr678=)
c.2811C>T (p.Tyr937=)
n.2780C>T
c.2475C>T (p.Tyr825=)
c.2886C>T (p.Tyr962=)
c.*2528C>T (n.*2528C>T)
n.2911C>T
c.342C>T (p.Tyr114=)
c.2808C>T (p.Tyr936=)
c.655+2823C>T (n.655+2823C>T)
c.1168-448C>T (n.1168-448C>T)
c.2739C>T (p.Tyr913=)
c.2802C>T (p.Tyr934=)
c.2790C>T (p.Tyr930=)
2g.144398376G>CCA348706817ZEB2c.*2660C>G (n.*2660C>G)
c.2034C>G (p.Tyr678Ter)
c.2811C>G (p.Tyr937Ter)
n.2780C>G
c.2475C>G (p.Tyr825Ter)
c.2886C>G (p.Tyr962Ter)
c.*2528C>G (n.*2528C>G)
n.2911C>G
c.342C>G (p.Tyr114Ter)
c.2808C>G (p.Tyr936Ter)
c.655+2823C>G (n.655+2823C>G)
c.1168-448C>G (n.1168-448C>G)
c.2739C>G (p.Tyr913Ter)
c.2802C>G (p.Tyr934Ter)
c.2790C>G (p.Tyr930Ter)
2g.144398376G>TCA348706818ZEB2c.*2660C>A (n.*2660C>A)
c.2034C>A (p.Tyr678Ter)
c.2811C>A (p.Tyr937Ter)
n.2780C>A
c.2475C>A (p.Tyr825Ter)
c.2886C>A (p.Tyr962Ter)
c.*2528C>A (n.*2528C>A)
n.2911C>A
c.342C>A (p.Tyr114Ter)
c.2808C>A (p.Tyr936Ter)
c.655+2823C>A (n.655+2823C>A)
c.1168-448C>A (n.1168-448C>A)
c.2739C>A (p.Tyr913Ter)
c.2802C>A (p.Tyr934Ter)
c.2790C>A (p.Tyr930Ter)
2g.144398377T>ACA348706823ZEB2c.*2659A>T (n.*2659A>T)
c.2033A>T (p.Tyr678Phe)
c.2810A>T (p.Tyr937Phe)
n.2779A>T
c.2474A>T (p.Tyr825Phe)
c.2885A>T (p.Tyr962Phe)
c.*2527A>T (n.*2527A>T)
n.2910A>T
c.341A>T (p.Tyr114Phe)
c.2807A>T (p.Tyr936Phe)
c.655+2822A>T (n.655+2822A>T)
c.1168-449A>T (n.1168-449A>T)
c.2738A>T (p.Tyr913Phe)
c.2801A>T (p.Tyr934Phe)
c.2789A>T (p.Tyr930Phe)
2g.144398377T>CCA348706825ZEB2c.*2659A>G (n.*2659A>G)
c.2033A>G (p.Tyr678Cys)
c.2810A>G (p.Tyr937Cys)
n.2779A>G
c.2474A>G (p.Tyr825Cys)
c.2885A>G (p.Tyr962Cys)
c.*2527A>G (n.*2527A>G)
n.2910A>G
c.341A>G (p.Tyr114Cys)
c.2807A>G (p.Tyr936Cys)
c.655+2822A>G (n.655+2822A>G)
c.1168-449A>G (n.1168-449A>G)
c.2738A>G (p.Tyr913Cys)
c.2801A>G (p.Tyr934Cys)
c.2789A>G (p.Tyr930Cys)
2g.144398377T>GCA348706827ZEB2c.*2659A>C (n.*2659A>C)
c.2033A>C (p.Tyr678Ser)
c.2810A>C (p.Tyr937Ser)
n.2779A>C
c.2474A>C (p.Tyr825Ser)
c.2885A>C (p.Tyr962Ser)
c.*2527A>C (n.*2527A>C)
n.2910A>C
c.341A>C (p.Tyr114Ser)
c.2807A>C (p.Tyr936Ser)
c.655+2822A>C (n.655+2822A>C)
c.1168-449A>C (n.1168-449A>C)
c.2738A>C (p.Tyr913Ser)
c.2801A>C (p.Tyr934Ser)
c.2789A>C (p.Tyr930Ser)
2g.144398378A>CCA348706830ZEB2c.*2658T>G (n.*2658T>G)
c.2032T>G (p.Tyr678Asp)
c.2809T>G (p.Tyr937Asp)
n.2778T>G
c.2473T>G (p.Tyr825Asp)
c.2884T>G (p.Tyr962Asp)
c.*2526T>G (n.*2526T>G)
n.2909T>G
c.340T>G (p.Tyr114Asp)
c.2806T>G (p.Tyr936Asp)
c.655+2821T>G (n.655+2821T>G)
c.1168-450T>G (n.1168-450T>G)
c.2737T>G (p.Tyr913Asp)
c.2800T>G (p.Tyr934Asp)
c.2788T>G (p.Tyr930Asp)
2g.144398378A>GCA348706832ZEB2c.*2658T>C (n.*2658T>C)
c.2032T>C (p.Tyr678His)
c.2809T>C (p.Tyr937His)
n.2778T>C
c.2473T>C (p.Tyr825His)
c.2884T>C (p.Tyr962His)
c.*2526T>C (n.*2526T>C)
n.2909T>C
c.340T>C (p.Tyr114His)
c.2806T>C (p.Tyr936His)
c.655+2821T>C (n.655+2821T>C)
c.1168-450T>C (n.1168-450T>C)
c.2737T>C (p.Tyr913His)
c.2800T>C (p.Tyr934His)
c.2788T>C (p.Tyr930His)
 COSMIC
2g.144398378A>TCA348706835ZEB2c.*2658T>A (n.*2658T>A)
c.2032T>A (p.Tyr678Asn)
c.2809T>A (p.Tyr937Asn)
n.2778T>A
c.2473T>A (p.Tyr825Asn)
c.2884T>A (p.Tyr962Asn)
c.*2526T>A (n.*2526T>A)
n.2909T>A
c.340T>A (p.Tyr114Asn)
c.2806T>A (p.Tyr936Asn)
c.655+2821T>A (n.655+2821T>A)
c.1168-450T>A (n.1168-450T>A)
c.2737T>A (p.Tyr913Asn)
c.2800T>A (p.Tyr934Asn)
c.2788T>A (p.Tyr930Asn)
2g.144398379G>ACA429445036ZEB2c.*2657C>T (n.*2657C>T)
c.2031C>T (p.Ala677=)
c.2808C>T (p.Ala936=)
n.2777C>T
c.2472C>T (p.Ala824=)
c.2883C>T (p.Ala961=)
c.*2525C>T (n.*2525C>T)
n.2908C>T
c.339C>T (p.Ala113=)
c.2805C>T (p.Ala935=)
c.655+2820C>T (n.655+2820C>T)
c.1168-451C>T (n.1168-451C>T)
c.2736C>T (p.Ala912=)
c.2799C>T (p.Ala933=)
c.2787C>T (p.Ala929=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.144398379G>CCA1898208ZEB2c.*2657C>G (n.*2657C>G)
c.2031C>G (p.Ala677=)
c.2808C>G (p.Ala936=)
n.2777C>G
c.2472C>G (p.Ala824=)
c.2883C>G (p.Ala961=)
c.*2525C>G (n.*2525C>G)
n.2908C>G
c.339C>G (p.Ala113=)
c.2805C>G (p.Ala935=)
c.655+2820C>G (n.655+2820C>G)
c.1168-451C>G (n.1168-451C>G)
c.2736C>G (p.Ala912=)
c.2799C>G (p.Ala933=)
c.2787C>G (p.Ala929=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.144398379G=CA1294884870ZEB2c.*2657C= (n.*2657C=)
c.2031C= (p.Ala677=)
c.2808C= (p.Ala936=)
n.2777C=
c.2472C= (p.Ala824=)
c.2883C= (p.Ala961=)
c.*2525C= (n.*2525C=)
n.2908C=
c.339C= (p.Ala113=)
c.2805C= (p.Ala935=)
c.655+2820C= (n.655+2820C=)
c.1168-451C= (n.1168-451C=)
c.2736C= (p.Ala912=)
c.2799C= (p.Ala933=)
c.2787C= (p.Ala929=)
2g.144398379G>TCA429445037ZEB2c.*2657C>A (n.*2657C>A)
c.2031C>A (p.Ala677=)
c.2808C>A (p.Ala936=)
n.2777C>A
c.2472C>A (p.Ala824=)
c.2883C>A (p.Ala961=)
c.*2525C>A (n.*2525C>A)
n.2908C>A
c.339C>A (p.Ala113=)
c.2805C>A (p.Ala935=)
c.655+2820C>A (n.655+2820C>A)
c.1168-451C>A (n.1168-451C>A)
c.2736C>A (p.Ala912=)
c.2799C>A (p.Ala933=)
c.2787C>A (p.Ala929=)
2g.144398380G>ACA348706838ZEB2c.*2656C>T (n.*2656C>T)
c.2030C>T (p.Ala677Val)
c.2807C>T (p.Ala936Val)
n.2776C>T
c.2471C>T (p.Ala824Val)
c.2882C>T (p.Ala961Val)
c.*2524C>T (n.*2524C>T)
n.2907C>T
c.338C>T (p.Ala113Val)
c.2804C>T (p.Ala935Val)
c.655+2819C>T (n.655+2819C>T)
c.1168-452C>T (n.1168-452C>T)
c.2735C>T (p.Ala912Val)
c.2798C>T (p.Ala933Val)
c.2786C>T (p.Ala929Val)
2g.144398380G>CCA57554715ZEB2c.*2656C>G (n.*2656C>G)
c.2030C>G (p.Ala677Gly)
c.2807C>G (p.Ala936Gly)
n.2776C>G
c.2471C>G (p.Ala824Gly)
c.2882C>G (p.Ala961Gly)
c.*2524C>G (n.*2524C>G)
n.2907C>G
c.338C>G (p.Ala113Gly)
c.2804C>G (p.Ala935Gly)
c.655+2819C>G (n.655+2819C>G)
c.1168-452C>G (n.1168-452C>G)
c.2735C>G (p.Ala912Gly)
c.2798C>G (p.Ala933Gly)
c.2786C>G (p.Ala929Gly)
 dbSNP
2g.144398380G=CA1294884872ZEB2c.*2656C= (n.*2656C=)
c.2030C= (p.Ala677=)
c.2807C= (p.Ala936=)
n.2776C=
c.2471C= (p.Ala824=)
c.2882C= (p.Ala961=)
c.*2524C= (n.*2524C=)
n.2907C=
c.338C= (p.Ala113=)
c.2804C= (p.Ala935=)
c.655+2819C= (n.655+2819C=)
c.1168-452C= (n.1168-452C=)
c.2735C= (p.Ala912=)
c.2798C= (p.Ala933=)
c.2786C= (p.Ala929=)
2g.144398380G>TCA348706841ZEB2c.*2656C>A (n.*2656C>A)
c.2030C>A (p.Ala677Asp)
c.2807C>A (p.Ala936Asp)
n.2776C>A
c.2471C>A (p.Ala824Asp)
c.2882C>A (p.Ala961Asp)
c.*2524C>A (n.*2524C>A)
n.2907C>A
c.338C>A (p.Ala113Asp)
c.2804C>A (p.Ala935Asp)
c.655+2819C>A (n.655+2819C>A)
c.1168-452C>A (n.1168-452C>A)
c.2735C>A (p.Ala912Asp)
c.2798C>A (p.Ala933Asp)
c.2786C>A (p.Ala929Asp)
2g.144398380_144398381delinsGCCA1294884871ZEB2c.*2655_*2656delinsGC (n.*2655_*2656delinsGC)
c.2029_2030delinsGC (p.Ala677=)
c.2806_2807delinsGC (p.Ala936=)
n.2775_2776delinsGC
c.2470_2471delinsGC (p.Ala824=)
c.2881_2882delinsGC (p.Ala961=)
c.*2523_*2524delinsGC (n.*2523_*2524delinsGC)
n.2906_2907delinsGC
c.337_338delinsGC (p.Ala113=)
c.2803_2804delinsGC (p.Ala935=)
c.655+2818_655+2819delinsGC (n.655+2818_655+2819delinsGC)
c.1168-453_1168-452delinsGC (n.1168-453_1168-452delinsGC)
c.2734_2735delinsGC (p.Ala912=)
c.2797_2798delinsGC (p.Ala933=)
c.2785_2786delinsGC (p.Ala929=)
2g.144398381C>ACA348706848ZEB2c.*2655G>T (n.*2655G>T)
c.2029G>T (p.Ala677Ser)
c.2806G>T (p.Ala936Ser)
n.2775G>T
c.2470G>T (p.Ala824Ser)
c.2881G>T (p.Ala961Ser)
c.*2523G>T (n.*2523G>T)
n.2906G>T
c.337G>T (p.Ala113Ser)
c.2803G>T (p.Ala935Ser)
c.655+2818G>T (n.655+2818G>T)
c.1168-453G>T (n.1168-453G>T)
c.2734G>T (p.Ala912Ser)
c.2797G>T (p.Ala933Ser)
c.2785G>T (p.Ala929Ser)
2g.144398381C>GCA348706844ZEB2c.*2655G>C (n.*2655G>C)
c.2029G>C (p.Ala677Pro)
c.2806G>C (p.Ala936Pro)
n.2775G>C
c.2470G>C (p.Ala824Pro)
c.2881G>C (p.Ala961Pro)
c.*2523G>C (n.*2523G>C)
n.2906G>C
c.337G>C (p.Ala113Pro)
c.2803G>C (p.Ala935Pro)
c.655+2818G>C (n.655+2818G>C)
c.1168-453G>C (n.1168-453G>C)
c.2734G>C (p.Ala912Pro)
c.2797G>C (p.Ala933Pro)
c.2785G>C (p.Ala929Pro)
 gnomAD v4
2g.144398381C>TCA348706846ZEB2c.*2655G>A (n.*2655G>A)
c.2029G>A (p.Ala677Thr)
c.2806G>A (p.Ala936Thr)
n.2775G>A
c.2470G>A (p.Ala824Thr)
c.2881G>A (p.Ala961Thr)
c.*2523G>A (n.*2523G>A)
n.2906G>A
c.337G>A (p.Ala113Thr)
c.2803G>A (p.Ala935Thr)
c.655+2818G>A (n.655+2818G>A)
c.1168-453G>A (n.1168-453G>A)
c.2734G>A (p.Ala912Thr)
c.2797G>A (p.Ala933Thr)
c.2785G>A (p.Ala929Thr)
2g.144398382delCA658795858ZEB2c.*2655del (n.*2655del)
c.2029del (p.Ala677ProfsTer?)
c.2806del (p.Ala936ProfsTer?)
n.2775del
c.2470del (p.Ala824ProfsTer?)
c.2881del (p.Ala961ProfsTer?)
c.*2523del (n.*2523del)
n.2906del
c.337del (p.Ala113ProfsTer?)
c.2803del (p.Ala935ProfsTer?)
c.655+2818del (n.655+2818del)
c.1168-453del (n.1168-453del)
c.2734del (p.Ala912ProfsTer?)
c.2797del (p.Ala933ProfsTer?)
c.2785del (p.Ala929ProfsTer?)
 ClinVar dbSNP
2g.144398382C>ACA348706851ZEB2c.*2654G>T (n.*2654G>T)
c.2028G>T (p.Met676Ile)
c.2805G>T (p.Met935Ile)
n.2774G>T
c.2469G>T (p.Met823Ile)
c.2880G>T (p.Met960Ile)
c.*2522G>T (n.*2522G>T)
n.2905G>T
c.336G>T (p.Met112Ile)
c.2802G>T (p.Met934Ile)
c.655+2817G>T (n.655+2817G>T)
c.1168-454G>T (n.1168-454G>T)
c.2733G>T (p.Met911Ile)
c.2796G>T (p.Met932Ile)
c.2784G>T (p.Met928Ile)
2g.144398382C>GCA348706853ZEB2c.*2654G>C (n.*2654G>C)
c.2028G>C (p.Met676Ile)
c.2805G>C (p.Met935Ile)
n.2774G>C
c.2469G>C (p.Met823Ile)
c.2880G>C (p.Met960Ile)
c.*2522G>C (n.*2522G>C)
n.2905G>C
c.336G>C (p.Met112Ile)
c.2802G>C (p.Met934Ile)
c.655+2817G>C (n.655+2817G>C)
c.1168-454G>C (n.1168-454G>C)
c.2733G>C (p.Met911Ile)
c.2796G>C (p.Met932Ile)
c.2784G>C (p.Met928Ile)
2g.144398382C>TCA348706854ZEB2c.*2654G>A (n.*2654G>A)
c.2028G>A (p.Met676Ile)
c.2805G>A (p.Met935Ile)
n.2774G>A
c.2469G>A (p.Met823Ile)
c.2880G>A (p.Met960Ile)
c.*2522G>A (n.*2522G>A)
n.2905G>A
c.336G>A (p.Met112Ile)
c.2802G>A (p.Met934Ile)
c.655+2817G>A (n.655+2817G>A)
c.1168-454G>A (n.1168-454G>A)
c.2733G>A (p.Met911Ile)
c.2796G>A (p.Met932Ile)
c.2784G>A (p.Met928Ile)
2g.144398383A=CA1294884873ZEB2c.*2653T= (n.*2653T=)
c.2027T= (p.Met676=)
c.2804T= (p.Met935=)
n.2773T=
c.2468T= (p.Met823=)
c.2879T= (p.Met960=)
c.*2521T= (n.*2521T=)
n.2904T=
c.335T= (p.Met112=)
c.2801T= (p.Met934=)
c.655+2816T= (n.655+2816T=)
c.1168-455T= (n.1168-455T=)
c.2732T= (p.Met911=)
c.2795T= (p.Met932=)
c.2783T= (p.Met928=)
2g.144398383A>CCA348706857ZEB2c.*2653T>G (n.*2653T>G)
c.2027T>G (p.Met676Arg)
c.2804T>G (p.Met935Arg)
n.2773T>G
c.2468T>G (p.Met823Arg)
c.2879T>G (p.Met960Arg)
c.*2521T>G (n.*2521T>G)
n.2904T>G
c.335T>G (p.Met112Arg)
c.2801T>G (p.Met934Arg)
c.655+2816T>G (n.655+2816T>G)
c.1168-455T>G (n.1168-455T>G)
c.2732T>G (p.Met911Arg)
c.2795T>G (p.Met932Arg)
c.2783T>G (p.Met928Arg)
2g.144398383A>GCA1898209ZEB2c.*2653T>C (n.*2653T>C)
c.2027T>C (p.Met676Thr)
c.2804T>C (p.Met935Thr)
n.2773T>C
c.2468T>C (p.Met823Thr)
c.2879T>C (p.Met960Thr)
c.*2521T>C (n.*2521T>C)
n.2904T>C
c.335T>C (p.Met112Thr)
c.2801T>C (p.Met934Thr)
c.655+2816T>C (n.655+2816T>C)
c.1168-455T>C (n.1168-455T>C)
c.2732T>C (p.Met911Thr)
c.2795T>C (p.Met932Thr)
c.2783T>C (p.Met928Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.144398383A>TCA348706860ZEB2c.*2653T>A (n.*2653T>A)
c.2027T>A (p.Met676Lys)
c.2804T>A (p.Met935Lys)
n.2773T>A
c.2468T>A (p.Met823Lys)
c.2879T>A (p.Met960Lys)
c.*2521T>A (n.*2521T>A)
n.2904T>A
c.335T>A (p.Met112Lys)
c.2801T>A (p.Met934Lys)
c.655+2816T>A (n.655+2816T>A)
c.1168-455T>A (n.1168-455T>A)
c.2732T>A (p.Met911Lys)
c.2795T>A (p.Met932Lys)
c.2783T>A (p.Met928Lys)
2g.144398384T>ACA348706863ZEB2c.*2652A>T (n.*2652A>T)
c.2026A>T (p.Met676Leu)
c.2803A>T (p.Met935Leu)
n.2772A>T
c.2467A>T (p.Met823Leu)
c.2878A>T (p.Met960Leu)
c.*2520A>T (n.*2520A>T)
n.2903A>T
c.334A>T (p.Met112Leu)
c.2800A>T (p.Met934Leu)
c.655+2815A>T (n.655+2815A>T)
c.1168-456A>T (n.1168-456A>T)
c.2731A>T (p.Met911Leu)
c.2794A>T (p.Met932Leu)
c.2782A>T (p.Met928Leu)
2g.144398384T>CCA348706865ZEB2c.*2652A>G (n.*2652A>G)
c.2026A>G (p.Met676Val)
c.2803A>G (p.Met935Val)
n.2772A>G
c.2467A>G (p.Met823Val)
c.2878A>G (p.Met960Val)
c.*2520A>G (n.*2520A>G)
n.2903A>G
c.334A>G (p.Met112Val)
c.2800A>G (p.Met934Val)
c.655+2815A>G (n.655+2815A>G)
c.1168-456A>G (n.1168-456A>G)
c.2731A>G (p.Met911Val)
c.2794A>G (p.Met932Val)
c.2782A>G (p.Met928Val)
 dbSNP
2g.144398384T>GCA348706867ZEB2c.*2652A>C (n.*2652A>C)
c.2026A>C (p.Met676Leu)
c.2803A>C (p.Met935Leu)
n.2772A>C
c.2467A>C (p.Met823Leu)
c.2878A>C (p.Met960Leu)
c.*2520A>C (n.*2520A>C)
n.2903A>C
c.334A>C (p.Met112Leu)
c.2800A>C (p.Met934Leu)
c.655+2815A>C (n.655+2815A>C)
c.1168-456A>C (n.1168-456A>C)
c.2731A>C (p.Met911Leu)
c.2794A>C (p.Met932Leu)
c.2782A>C (p.Met928Leu)
 gnomAD v4
2g.144398384dupCA1139655625ZEB2c.*2652dup (n.*2652dup)
c.2026dup (p.Met676AsnfsTer14)
c.2803dup (p.Met935AsnfsTer14)
n.2772dup
c.2467dup (p.Met823AsnfsTer14)
c.2878dup (p.Met960AsnfsTer14)
c.*2520dup (n.*2520dup)
n.2903dup
c.334dup (p.Met112AsnfsTer14)
c.2800dup (p.Met934AsnfsTer14)
c.655+2815dup (n.655+2815dup)
c.1168-456dup (n.1168-456dup)
c.2731dup (p.Met911AsnfsTer14)
c.2794dup (p.Met932AsnfsTer14)
c.2782dup (p.Met928AsnfsTer14)
 ClinVar dbSNP
2g.144398385A=CA1294884874ZEB2c.*2651T= (n.*2651T=)
c.2025T= (p.His675=)
c.2802T= (p.His934=)
n.2771T=
c.2466T= (p.His822=)
c.2877T= (p.His959=)
c.*2519T= (n.*2519T=)
n.2902T=
c.333T= (p.His111=)
c.2799T= (p.His933=)
c.655+2814T= (n.655+2814T=)
c.1168-457T= (n.1168-457T=)
c.2730T= (p.His910=)
c.2793T= (p.His931=)
c.2781T= (p.His927=)
2g.144398385A>CCA348706870ZEB2c.*2651T>G (n.*2651T>G)
c.2025T>G (p.His675Gln)
c.2802T>G (p.His934Gln)
n.2771T>G
c.2466T>G (p.His822Gln)
c.2877T>G (p.His959Gln)
c.*2519T>G (n.*2519T>G)
n.2902T>G
c.333T>G (p.His111Gln)
c.2799T>G (p.His933Gln)
c.655+2814T>G (n.655+2814T>G)
c.1168-457T>G (n.1168-457T>G)
c.2730T>G (p.His910Gln)
c.2793T>G (p.His931Gln)
c.2781T>G (p.His927Gln)
2g.144398385A>GCA429445040ZEB2c.*2651T>C (n.*2651T>C)
c.2025T>C (p.His675=)
c.2802T>C (p.His934=)
n.2771T>C
c.2466T>C (p.His822=)
c.2877T>C (p.His959=)
c.*2519T>C (n.*2519T>C)
n.2902T>C
c.333T>C (p.His111=)
c.2799T>C (p.His933=)
c.655+2814T>C (n.655+2814T>C)
c.1168-457T>C (n.1168-457T>C)
c.2730T>C (p.His910=)
c.2793T>C (p.His931=)
c.2781T>C (p.His927=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.144398385A>TCA348706872ZEB2c.*2651T>A (n.*2651T>A)
c.2025T>A (p.His675Gln)
c.2802T>A (p.His934Gln)
n.2771T>A
c.2466T>A (p.His822Gln)
c.2877T>A (p.His959Gln)
c.*2519T>A (n.*2519T>A)
n.2902T>A
c.333T>A (p.His111Gln)
c.2799T>A (p.His933Gln)
c.655+2814T>A (n.655+2814T>A)
c.1168-457T>A (n.1168-457T>A)
c.2730T>A (p.His910Gln)
c.2793T>A (p.His931Gln)
c.2781T>A (p.His927Gln)
2g.144398386T>ACA348706877ZEB2c.*2650A>T (n.*2650A>T)
c.2024A>T (p.His675Leu)
c.2801A>T (p.His934Leu)
n.2770A>T
c.2465A>T (p.His822Leu)
c.2876A>T (p.His959Leu)
c.*2518A>T (n.*2518A>T)
n.2901A>T
c.332A>T (p.His111Leu)
c.2798A>T (p.His933Leu)
c.655+2813A>T (n.655+2813A>T)
c.1168-458A>T (n.1168-458A>T)
c.2729A>T (p.His910Leu)
c.2792A>T (p.His931Leu)
c.2780A>T (p.His927Leu)
2g.144398386T>CCA348706879ZEB2c.*2650A>G (n.*2650A>G)
c.2024A>G (p.His675Arg)
c.2801A>G (p.His934Arg)
n.2770A>G
c.2465A>G (p.His822Arg)
c.2876A>G (p.His959Arg)
c.*2518A>G (n.*2518A>G)
n.2901A>G
c.332A>G (p.His111Arg)
c.2798A>G (p.His933Arg)
c.655+2813A>G (n.655+2813A>G)
c.1168-458A>G (n.1168-458A>G)
c.2729A>G (p.His910Arg)
c.2792A>G (p.His931Arg)
c.2780A>G (p.His927Arg)
 gnomAD v4
2g.144398386T>GCA348706875ZEB2c.*2650A>C (n.*2650A>C)
c.2024A>C (p.His675Pro)
c.2801A>C (p.His934Pro)
n.2770A>C
c.2465A>C (p.His822Pro)
c.2876A>C (p.His959Pro)
c.*2518A>C (n.*2518A>C)
n.2901A>C
c.332A>C (p.His111Pro)
c.2798A>C (p.His933Pro)
c.655+2813A>C (n.655+2813A>C)
c.1168-458A>C (n.1168-458A>C)
c.2729A>C (p.His910Pro)
c.2792A>C (p.His931Pro)
c.2780A>C (p.His927Pro)
2g.144398387G>ACA348706882ZEB2c.*2649C>T (n.*2649C>T)
c.2023C>T (p.His675Tyr)
c.2800C>T (p.His934Tyr)
n.2769C>T
c.2464C>T (p.His822Tyr)
c.2875C>T (p.His959Tyr)
c.*2517C>T (n.*2517C>T)
n.2900C>T
c.331C>T (p.His111Tyr)
c.2797C>T (p.His933Tyr)
c.655+2812C>T (n.655+2812C>T)
c.1168-459C>T (n.1168-459C>T)
c.2728C>T (p.His910Tyr)
c.2791C>T (p.His931Tyr)
c.2779C>T (p.His927Tyr)
2g.144398387G>CCA348706883ZEB2c.*2649C>G (n.*2649C>G)
c.2023C>G (p.His675Asp)
c.2800C>G (p.His934Asp)
n.2769C>G
c.2464C>G (p.His822Asp)
c.2875C>G (p.His959Asp)
c.*2517C>G (n.*2517C>G)
n.2900C>G
c.331C>G (p.His111Asp)
c.2797C>G (p.His933Asp)
c.655+2812C>G (n.655+2812C>G)
c.1168-459C>G (n.1168-459C>G)
c.2728C>G (p.His910Asp)
c.2791C>G (p.His931Asp)
c.2779C>G (p.His927Asp)
 gnomAD v4
2g.144398387G>TCA348706885ZEB2c.*2649C>A (n.*2649C>A)
c.2023C>A (p.His675Asn)
c.2800C>A (p.His934Asn)
n.2769C>A
c.2464C>A (p.His822Asn)
c.2875C>A (p.His959Asn)
c.*2517C>A (n.*2517C>A)
n.2900C>A
c.331C>A (p.His111Asn)
c.2797C>A (p.His933Asn)
c.655+2812C>A (n.655+2812C>A)
c.1168-459C>A (n.1168-459C>A)
c.2728C>A (p.His910Asn)
c.2791C>A (p.His931Asn)
c.2779C>A (p.His927Asn)
2g.144398388T>ACA429445043ZEB2c.*2648A>T (n.*2648A>T)
c.2022A>T (p.Pro674=)
c.2799A>T (p.Pro933=)
n.2768A>T
c.2463A>T (p.Pro821=)
c.2874A>T (p.Pro958=)
c.*2516A>T (n.*2516A>T)
n.2899A>T
c.330A>T (p.Pro110=)
c.2796A>T (p.Pro932=)
c.655+2811A>T (n.655+2811A>T)
c.1168-460A>T (n.1168-460A>T)
c.2727A>T (p.Pro909=)
c.2790A>T (p.Pro930=)
c.2778A>T (p.Pro926=)
 gnomAD v4
2g.144398388T>CCA429445041ZEB2c.*2648A>G (n.*2648A>G)
c.2022A>G (p.Pro674=)
c.2799A>G (p.Pro933=)
n.2768A>G
c.2463A>G (p.Pro821=)
c.2874A>G (p.Pro958=)
c.*2516A>G (n.*2516A>G)
n.2899A>G
c.330A>G (p.Pro110=)
c.2796A>G (p.Pro932=)
c.655+2811A>G (n.655+2811A>G)
c.1168-460A>G (n.1168-460A>G)
c.2727A>G (p.Pro909=)
c.2790A>G (p.Pro930=)
c.2778A>G (p.Pro926=)
 gnomAD v4
2g.144398388T>GCA429445042ZEB2c.*2648A>C (n.*2648A>C)
c.2022A>C (p.Pro674=)
c.2799A>C (p.Pro933=)
n.2768A>C
c.2463A>C (p.Pro821=)
c.2874A>C (p.Pro958=)
c.*2516A>C (n.*2516A>C)
n.2899A>C
c.330A>C (p.Pro110=)
c.2796A>C (p.Pro932=)
c.655+2811A>C (n.655+2811A>C)
c.1168-460A>C (n.1168-460A>C)
c.2727A>C (p.Pro909=)
c.2790A>C (p.Pro930=)
c.2778A>C (p.Pro926=)
2g.144398389G>ACA348706888ZEB2c.*2647C>T (n.*2647C>T)
c.2021C>T (p.Pro674Leu)
c.2798C>T (p.Pro933Leu)
n.2767C>T
c.2462C>T (p.Pro821Leu)
c.2873C>T (p.Pro958Leu)
c.*2515C>T (n.*2515C>T)
n.2898C>T
c.329C>T (p.Pro110Leu)
c.2795C>T (p.Pro932Leu)
c.655+2810C>T (n.655+2810C>T)
c.1168-461C>T (n.1168-461C>T)
c.2726C>T (p.Pro909Leu)
c.2789C>T (p.Pro930Leu)
c.2777C>T (p.Pro926Leu)
2g.144398389G>CCA348706890ZEB2c.*2647C>G (n.*2647C>G)
c.2021C>G (p.Pro674Arg)
c.2798C>G (p.Pro933Arg)
n.2767C>G
c.2462C>G (p.Pro821Arg)
c.2873C>G (p.Pro958Arg)
c.*2515C>G (n.*2515C>G)
n.2898C>G
c.329C>G (p.Pro110Arg)
c.2795C>G (p.Pro932Arg)
c.655+2810C>G (n.655+2810C>G)
c.1168-461C>G (n.1168-461C>G)
c.2726C>G (p.Pro909Arg)
c.2789C>G (p.Pro930Arg)
c.2777C>G (p.Pro926Arg)
2g.144398389G>TCA348706892ZEB2c.*2647C>A (n.*2647C>A)
c.2021C>A (p.Pro674Gln)
c.2798C>A (p.Pro933Gln)
n.2767C>A
c.2462C>A (p.Pro821Gln)
c.2873C>A (p.Pro958Gln)
c.*2515C>A (n.*2515C>A)
n.2898C>A
c.329C>A (p.Pro110Gln)
c.2795C>A (p.Pro932Gln)
c.655+2810C>A (n.655+2810C>A)
c.1168-461C>A (n.1168-461C>A)
c.2726C>A (p.Pro909Gln)
c.2789C>A (p.Pro930Gln)
c.2777C>A (p.Pro926Gln)
2g.144398390delCA2586970071ZEB2c.*2647del (n.*2647del)
c.2021del (p.Pro674HisfsTer?)
c.2798del (p.Pro933HisfsTer?)
n.2767del
c.2462del (p.Pro821HisfsTer?)
c.2873del (p.Pro958HisfsTer?)
c.*2515del (n.*2515del)
n.2898del
c.329del (p.Pro110HisfsTer?)
c.2795del (p.Pro932HisfsTer?)
c.655+2810del (n.655+2810del)
c.1168-461del (n.1168-461del)
c.2726del (p.Pro909HisfsTer?)
c.2789del (p.Pro930HisfsTer?)
c.2777del (p.Pro926HisfsTer?)
2g.144398390G>ACA348706895ZEB2c.*2646C>T (n.*2646C>T)
c.2020C>T (p.Pro674Ser)
c.2797C>T (p.Pro933Ser)
n.2766C>T
c.2461C>T (p.Pro821Ser)
c.2872C>T (p.Pro958Ser)
c.*2514C>T (n.*2514C>T)
n.2897C>T
c.328C>T (p.Pro110Ser)
c.2794C>T (p.Pro932Ser)
c.655+2809C>T (n.655+2809C>T)
c.1168-462C>T (n.1168-462C>T)
c.2725C>T (p.Pro909Ser)
c.2788C>T (p.Pro930Ser)
c.2776C>T (p.Pro926Ser)
 dbSNP gnomAD v3 gnomAD v4
2g.144398390G>CCA348706897ZEB2c.*2646C>G (n.*2646C>G)
c.2020C>G (p.Pro674Ala)
c.2797C>G (p.Pro933Ala)
n.2766C>G
c.2461C>G (p.Pro821Ala)
c.2872C>G (p.Pro958Ala)
c.*2514C>G (n.*2514C>G)
n.2897C>G
c.328C>G (p.Pro110Ala)
c.2794C>G (p.Pro932Ala)
c.655+2809C>G (n.655+2809C>G)
c.1168-462C>G (n.1168-462C>G)
c.2725C>G (p.Pro909Ala)
c.2788C>G (p.Pro930Ala)
c.2776C>G (p.Pro926Ala)
2g.144398390G=CA1294884875ZEB2c.*2646C= (n.*2646C=)
c.2020C= (p.Pro674=)
c.2797C= (p.Pro933=)
n.2766C=
c.2461C= (p.Pro821=)
c.2872C= (p.Pro958=)
c.*2514C= (n.*2514C=)
n.2897C=
c.328C= (p.Pro110=)
c.2794C= (p.Pro932=)
c.655+2809C= (n.655+2809C=)
c.1168-462C= (n.1168-462C=)
c.2725C= (p.Pro909=)
c.2788C= (p.Pro930=)
c.2776C= (p.Pro926=)
2g.144398390G>TCA348706898ZEB2c.*2646C>A (n.*2646C>A)
c.2020C>A (p.Pro674Thr)
c.2797C>A (p.Pro933Thr)
n.2766C>A
c.2461C>A (p.Pro821Thr)
c.2872C>A (p.Pro958Thr)
c.*2514C>A (n.*2514C>A)
n.2897C>A
c.328C>A (p.Pro110Thr)
c.2794C>A (p.Pro932Thr)
c.655+2809C>A (n.655+2809C>A)
c.1168-462C>A (n.1168-462C>A)
c.2725C>A (p.Pro909Thr)
c.2788C>A (p.Pro930Thr)
c.2776C>A (p.Pro926Thr)
2g.144398391T>ACA429445047ZEB2c.*2645A>T (n.*2645A>T)
c.2019A>T (p.Leu673=)
c.2796A>T (p.Leu932=)
n.2765A>T
c.2460A>T (p.Leu820=)
c.2871A>T (p.Leu957=)
c.*2513A>T (n.*2513A>T)
n.2896A>T
c.327A>T (p.Leu109=)
c.2793A>T (p.Leu931=)
c.655+2808A>T (n.655+2808A>T)
c.1168-463A>T (n.1168-463A>T)
c.2724A>T (p.Leu908=)
c.2787A>T (p.Leu929=)
c.2775A>T (p.Leu925=)
 gnomAD v4
2g.144398391T>CCA57554721ZEB2c.*2645A>G (n.*2645A>G)
c.2019A>G (p.Leu673=)
c.2796A>G (p.Leu932=)
n.2765A>G
c.2460A>G (p.Leu820=)
c.2871A>G (p.Leu957=)
c.*2513A>G (n.*2513A>G)
n.2896A>G
c.327A>G (p.Leu109=)
c.2793A>G (p.Leu931=)
c.655+2808A>G (n.655+2808A>G)
c.1168-463A>G (n.1168-463A>G)
c.2724A>G (p.Leu908=)
c.2787A>G (p.Leu929=)
c.2775A>G (p.Leu925=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.144398391T>GCA429445048ZEB2c.*2645A>C (n.*2645A>C)
c.2019A>C (p.Leu673=)
c.2796A>C (p.Leu932=)
n.2765A>C
c.2460A>C (p.Leu820=)
c.2871A>C (p.Leu957=)
c.*2513A>C (n.*2513A>C)
n.2896A>C
c.327A>C (p.Leu109=)
c.2793A>C (p.Leu931=)
c.655+2808A>C (n.655+2808A>C)
c.1168-463A>C (n.1168-463A>C)
c.2724A>C (p.Leu908=)
c.2787A>C (p.Leu929=)
c.2775A>C (p.Leu925=)
2g.144398391T=CA1294884876ZEB2c.*2645A= (n.*2645A=)
c.2019A= (p.Leu673=)
c.2796A= (p.Leu932=)
n.2765A=
c.2460A= (p.Leu820=)
c.2871A= (p.Leu957=)
c.*2513A= (n.*2513A=)
n.2896A=
c.327A= (p.Leu109=)
c.2793A= (p.Leu931=)
c.655+2808A= (n.655+2808A=)
c.1168-463A= (n.1168-463A=)
c.2724A= (p.Leu908=)
c.2787A= (p.Leu929=)
c.2775A= (p.Leu925=)
2g.144398392A>CCA348706902ZEB2c.*2644T>G (n.*2644T>G)
c.2018T>G (p.Leu673Arg)
c.2795T>G (p.Leu932Arg)
n.2764T>G
c.2459T>G (p.Leu820Arg)
c.2870T>G (p.Leu957Arg)
c.*2512T>G (n.*2512T>G)
n.2895T>G
c.326T>G (p.Leu109Arg)
c.2792T>G (p.Leu931Arg)
c.655+2807T>G (n.655+2807T>G)
c.1168-464T>G (n.1168-464T>G)
c.2723T>G (p.Leu908Arg)
c.2786T>G (p.Leu929Arg)
c.2774T>G (p.Leu925Arg)
2g.144398392A>GCA348706904ZEB2c.*2644T>C (n.*2644T>C)
c.2018T>C (p.Leu673Pro)
c.2795T>C (p.Leu932Pro)
n.2764T>C
c.2459T>C (p.Leu820Pro)
c.2870T>C (p.Leu957Pro)
c.*2512T>C (n.*2512T>C)
n.2895T>C
c.326T>C (p.Leu109Pro)
c.2792T>C (p.Leu931Pro)
c.655+2807T>C (n.655+2807T>C)
c.1168-464T>C (n.1168-464T>C)
c.2723T>C (p.Leu908Pro)
c.2786T>C (p.Leu929Pro)
c.2774T>C (p.Leu925Pro)
2g.144398392A>TCA348706906ZEB2c.*2644T>A (n.*2644T>A)
c.2018T>A (p.Leu673Gln)
c.2795T>A (p.Leu932Gln)
n.2764T>A
c.2459T>A (p.Leu820Gln)
c.2870T>A (p.Leu957Gln)
c.*2512T>A (n.*2512T>A)
n.2895T>A
c.326T>A (p.Leu109Gln)
c.2792T>A (p.Leu931Gln)
c.655+2807T>A (n.655+2807T>A)
c.1168-464T>A (n.1168-464T>A)
c.2723T>A (p.Leu908Gln)
c.2786T>A (p.Leu929Gln)
c.2774T>A (p.Leu925Gln)
 ClinVar dbSNP
2g.144398393G>ACA429445051ZEB2c.*2643C>T (n.*2643C>T)
c.2017C>T (p.Leu673=)
c.2794C>T (p.Leu932=)
n.2763C>T
c.2458C>T (p.Leu820=)
c.2869C>T (p.Leu957=)
c.*2511C>T (n.*2511C>T)
n.2894C>T
c.325C>T (p.Leu109=)
c.2791C>T (p.Leu931=)
c.655+2806C>T (n.655+2806C>T)
c.1168-465C>T (n.1168-465C>T)
c.2722C>T (p.Leu908=)
c.2785C>T (p.Leu929=)
c.2773C>T (p.Leu925=)
2g.144398393G>CCA348706909ZEB2c.*2643C>G (n.*2643C>G)
c.2017C>G (p.Leu673Val)
c.2794C>G (p.Leu932Val)
n.2763C>G
c.2458C>G (p.Leu820Val)
c.2869C>G (p.Leu957Val)
c.*2511C>G (n.*2511C>G)
n.2894C>G
c.325C>G (p.Leu109Val)
c.2791C>G (p.Leu931Val)
c.655+2806C>G (n.655+2806C>G)
c.1168-465C>G (n.1168-465C>G)
c.2722C>G (p.Leu908Val)
c.2785C>G (p.Leu929Val)
c.2773C>G (p.Leu925Val)
2g.144398393G>TCA348706911ZEB2c.*2643C>A (n.*2643C>A)
c.2017C>A (p.Leu673Ile)
c.2794C>A (p.Leu932Ile)
n.2763C>A
c.2458C>A (p.Leu820Ile)
c.2869C>A (p.Leu957Ile)
c.*2511C>A (n.*2511C>A)
n.2894C>A
c.325C>A (p.Leu109Ile)
c.2791C>A (p.Leu931Ile)
c.655+2806C>A (n.655+2806C>A)
c.1168-465C>A (n.1168-465C>A)
c.2722C>A (p.Leu908Ile)
c.2785C>A (p.Leu929Ile)
c.2773C>A (p.Leu925Ile)
2g.144398394G>ACA429445052ZEB2c.*2642C>T (n.*2642C>T)
c.2016C>T (p.Phe672=)
c.2793C>T (p.Phe931=)
n.2762C>T
c.2457C>T (p.Phe819=)
c.2868C>T (p.Phe956=)
c.*2510C>T (n.*2510C>T)
n.2893C>T
c.324C>T (p.Phe108=)
c.2790C>T (p.Phe930=)
c.655+2805C>T (n.655+2805C>T)
c.1168-466C>T (n.1168-466C>T)
c.2721C>T (p.Phe907=)
c.2784C>T (p.Phe928=)
c.2772C>T (p.Phe924=)
 ClinVar gnomAD v4
2g.144398394G>CCA348706915ZEB2c.*2642C>G (n.*2642C>G)
c.2016C>G (p.Phe672Leu)
c.2793C>G (p.Phe931Leu)
n.2762C>G
c.2457C>G (p.Phe819Leu)
c.2868C>G (p.Phe956Leu)
c.*2510C>G (n.*2510C>G)
n.2893C>G
c.324C>G (p.Phe108Leu)
c.2790C>G (p.Phe930Leu)
c.655+2805C>G (n.655+2805C>G)
c.1168-466C>G (n.1168-466C>G)
c.2721C>G (p.Phe907Leu)
c.2784C>G (p.Phe928Leu)
c.2772C>G (p.Phe924Leu)
 gnomAD v4
2g.144398394G>TCA348706913ZEB2c.*2642C>A (n.*2642C>A)
c.2016C>A (p.Phe672Leu)
c.2793C>A (p.Phe931Leu)
n.2762C>A
c.2457C>A (p.Phe819Leu)
c.2868C>A (p.Phe956Leu)
c.*2510C>A (n.*2510C>A)
n.2893C>A
c.324C>A (p.Phe108Leu)
c.2790C>A (p.Phe930Leu)
c.655+2805C>A (n.655+2805C>A)
c.1168-466C>A (n.1168-466C>A)
c.2721C>A (p.Phe907Leu)
c.2784C>A (p.Phe928Leu)
c.2772C>A (p.Phe924Leu)
2g.144398395A>CCA348706918ZEB2c.*2641T>G (n.*2641T>G)
c.2015T>G (p.Phe672Cys)
c.2792T>G (p.Phe931Cys)
n.2761T>G
c.2456T>G (p.Phe819Cys)
c.2867T>G (p.Phe956Cys)
c.*2509T>G (n.*2509T>G)
n.2892T>G
c.323T>G (p.Phe108Cys)
c.2789T>G (p.Phe930Cys)
c.655+2804T>G (n.655+2804T>G)
c.1168-467T>G (n.1168-467T>G)
c.2720T>G (p.Phe907Cys)
c.2783T>G (p.Phe928Cys)
c.2771T>G (p.Phe924Cys)
 ClinVar dbSNP
2g.144398395A>GCA348706920ZEB2c.*2641T>C (n.*2641T>C)
c.2015T>C (p.Phe672Ser)
c.2792T>C (p.Phe931Ser)
n.2761T>C
c.2456T>C (p.Phe819Ser)
c.2867T>C (p.Phe956Ser)
c.*2509T>C (n.*2509T>C)
n.2892T>C
c.323T>C (p.Phe108Ser)
c.2789T>C (p.Phe930Ser)
c.655+2804T>C (n.655+2804T>C)
c.1168-467T>C (n.1168-467T>C)
c.2720T>C (p.Phe907Ser)
c.2783T>C (p.Phe928Ser)
c.2771T>C (p.Phe924Ser)
2g.144398395A>TCA348706922ZEB2c.*2641T>A (n.*2641T>A)
c.2015T>A (p.Phe672Tyr)
c.2792T>A (p.Phe931Tyr)
n.2761T>A
c.2456T>A (p.Phe819Tyr)
c.2867T>A (p.Phe956Tyr)
c.*2509T>A (n.*2509T>A)
n.2892T>A
c.323T>A (p.Phe108Tyr)
c.2789T>A (p.Phe930Tyr)
c.655+2804T>A (n.655+2804T>A)
c.1168-467T>A (n.1168-467T>A)
c.2720T>A (p.Phe907Tyr)
c.2783T>A (p.Phe928Tyr)
c.2771T>A (p.Phe924Tyr)
2g.144398396A>CCA348706925ZEB2c.*2640T>G (n.*2640T>G)
c.2014T>G (p.Phe672Val)
c.2791T>G (p.Phe931Val)
n.2760T>G
c.2455T>G (p.Phe819Val)
c.2866T>G (p.Phe956Val)
c.*2508T>G (n.*2508T>G)
n.2891T>G
c.322T>G (p.Phe108Val)
c.2788T>G (p.Phe930Val)
c.655+2803T>G (n.655+2803T>G)
c.1168-468T>G (n.1168-468T>G)
c.2719T>G (p.Phe907Val)
c.2782T>G (p.Phe928Val)
c.2770T>G (p.Phe924Val)
 COSMIC
2g.144398396A>GCA348706927ZEB2c.*2640T>C (n.*2640T>C)
c.2014T>C (p.Phe672Leu)
c.2791T>C (p.Phe931Leu)
n.2760T>C
c.2455T>C (p.Phe819Leu)
c.2866T>C (p.Phe956Leu)
c.*2508T>C (n.*2508T>C)
n.2891T>C
c.322T>C (p.Phe108Leu)
c.2788T>C (p.Phe930Leu)
c.655+2803T>C (n.655+2803T>C)
c.1168-468T>C (n.1168-468T>C)
c.2719T>C (p.Phe907Leu)
c.2782T>C (p.Phe928Leu)
c.2770T>C (p.Phe924Leu)
2g.144398396A>TCA348706929ZEB2c.*2640T>A (n.*2640T>A)
c.2014T>A (p.Phe672Ile)
c.2791T>A (p.Phe931Ile)
n.2760T>A
c.2455T>A (p.Phe819Ile)
c.2866T>A (p.Phe956Ile)
c.*2508T>A (n.*2508T>A)
n.2891T>A
c.322T>A (p.Phe108Ile)
c.2788T>A (p.Phe930Ile)
c.655+2803T>A (n.655+2803T>A)
c.1168-468T>A (n.1168-468T>A)
c.2719T>A (p.Phe907Ile)
c.2782T>A (p.Phe928Ile)
c.2770T>A (p.Phe924Ile)
2g.144398397G>ACA429445055ZEB2c.*2639C>T (n.*2639C>T)
c.2013C>T (p.Ser671=)
c.2790C>T (p.Ser930=)
n.2759C>T
c.2454C>T (p.Ser818=)
c.2865C>T (p.Ser955=)
c.*2507C>T (n.*2507C>T)
n.2890C>T
c.321C>T (p.Ser107=)
c.2787C>T (p.Ser929=)
c.655+2802C>T (n.655+2802C>T)
c.1168-469C>T (n.1168-469C>T)
c.2718C>T (p.Ser906=)
c.2781C>T (p.Ser927=)
c.2769C>T (p.Ser923=)
2g.144398397G>CCA348706934ZEB2c.*2639C>G (n.*2639C>G)
c.2013C>G (p.Ser671Arg)
c.2790C>G (p.Ser930Arg)
n.2759C>G
c.2454C>G (p.Ser818Arg)
c.2865C>G (p.Ser955Arg)
c.*2507C>G (n.*2507C>G)
n.2890C>G
c.321C>G (p.Ser107Arg)
c.2787C>G (p.Ser929Arg)
c.655+2802C>G (n.655+2802C>G)
c.1168-469C>G (n.1168-469C>G)
c.2718C>G (p.Ser906Arg)
c.2781C>G (p.Ser927Arg)
c.2769C>G (p.Ser923Arg)
2g.144398397G>TCA348706932ZEB2c.*2639C>A (n.*2639C>A)
c.2013C>A (p.Ser671Arg)
c.2790C>A (p.Ser930Arg)
n.2759C>A
c.2454C>A (p.Ser818Arg)
c.2865C>A (p.Ser955Arg)
c.*2507C>A (n.*2507C>A)
n.2890C>A
c.321C>A (p.Ser107Arg)
c.2787C>A (p.Ser929Arg)
c.655+2802C>A (n.655+2802C>A)
c.1168-469C>A (n.1168-469C>A)
c.2718C>A (p.Ser906Arg)
c.2781C>A (p.Ser927Arg)
c.2769C>A (p.Ser923Arg)
2g.144398398C>ACA348706937ZEB2c.*2638G>T (n.*2638G>T)
c.2012G>T (p.Ser671Ile)
c.2789G>T (p.Ser930Ile)
n.2758G>T
c.2453G>T (p.Ser818Ile)
c.2864G>T (p.Ser955Ile)
c.*2506G>T (n.*2506G>T)
n.2889G>T
c.320G>T (p.Ser107Ile)
c.2786G>T (p.Ser929Ile)
c.655+2801G>T (n.655+2801G>T)
c.1168-470G>T (n.1168-470G>T)
c.2717G>T (p.Ser906Ile)
c.2780G>T (p.Ser927Ile)
c.2768G>T (p.Ser923Ile)
2g.144398398C>GCA348706938ZEB2c.*2638G>C (n.*2638G>C)
c.2012G>C (p.Ser671Thr)
c.2789G>C (p.Ser930Thr)
n.2758G>C
c.2453G>C (p.Ser818Thr)
c.2864G>C (p.Ser955Thr)
c.*2506G>C (n.*2506G>C)
n.2889G>C
c.320G>C (p.Ser107Thr)
c.2786G>C (p.Ser929Thr)
c.655+2801G>C (n.655+2801G>C)
c.1168-470G>C (n.1168-470G>C)
c.2717G>C (p.Ser906Thr)
c.2780G>C (p.Ser927Thr)
c.2768G>C (p.Ser923Thr)
2g.144398398C>TCA348706940ZEB2c.*2638G>A (n.*2638G>A)
c.2012G>A (p.Ser671Asn)
c.2789G>A (p.Ser930Asn)
n.2758G>A
c.2453G>A (p.Ser818Asn)
c.2864G>A (p.Ser955Asn)
c.*2506G>A (n.*2506G>A)
n.2889G>A
c.320G>A (p.Ser107Asn)
c.2786G>A (p.Ser929Asn)
c.655+2801G>A (n.655+2801G>A)
c.1168-470G>A (n.1168-470G>A)
c.2717G>A (p.Ser906Asn)
c.2780G>A (p.Ser927Asn)
c.2768G>A (p.Ser923Asn)
2g.144398399T>ACA348706943ZEB2c.*2637A>T (n.*2637A>T)
c.2011A>T (p.Ser671Cys)
c.2788A>T (p.Ser930Cys)
n.2757A>T
c.2452A>T (p.Ser818Cys)
c.2863A>T (p.Ser955Cys)
c.*2505A>T (n.*2505A>T)
n.2888A>T
c.319A>T (p.Ser107Cys)
c.2785A>T (p.Ser929Cys)
c.655+2800A>T (n.655+2800A>T)
c.1168-471A>T (n.1168-471A>T)
c.2716A>T (p.Ser906Cys)
c.2779A>T (p.Ser927Cys)
c.2767A>T (p.Ser923Cys)
2g.144398399T>CCA348706945ZEB2c.*2637A>G (n.*2637A>G)
c.2011A>G (p.Ser671Gly)
c.2788A>G (p.Ser930Gly)
n.2757A>G
c.2452A>G (p.Ser818Gly)
c.2863A>G (p.Ser955Gly)
c.*2505A>G (n.*2505A>G)
n.2888A>G
c.319A>G (p.Ser107Gly)
c.2785A>G (p.Ser929Gly)
c.655+2800A>G (n.655+2800A>G)
c.1168-471A>G (n.1168-471A>G)
c.2716A>G (p.Ser906Gly)
c.2779A>G (p.Ser927Gly)
c.2767A>G (p.Ser923Gly)
2g.144398399T>GCA348706947ZEB2c.*2637A>C (n.*2637A>C)
c.2011A>C (p.Ser671Arg)
c.2788A>C (p.Ser930Arg)
n.2757A>C
c.2452A>C (p.Ser818Arg)
c.2863A>C (p.Ser955Arg)
c.*2505A>C (n.*2505A>C)
n.2888A>C
c.319A>C (p.Ser107Arg)
c.2785A>C (p.Ser929Arg)
c.655+2800A>C (n.655+2800A>C)
c.1168-471A>C (n.1168-471A>C)
c.2716A>C (p.Ser906Arg)
c.2779A>C (p.Ser927Arg)
c.2767A>C (p.Ser923Arg)
2g.144398400C>ACA348706949ZEB2c.*2636G>T (n.*2636G>T)
c.2010G>T (p.Met670Ile)
c.2787G>T (p.Met929Ile)
n.2756G>T
c.2451G>T (p.Met817Ile)
c.2862G>T (p.Met954Ile)
c.*2504G>T (n.*2504G>T)
n.2887G>T
c.318G>T (p.Met106Ile)
c.2784G>T (p.Met928Ile)
c.655+2799G>T (n.655+2799G>T)
c.1168-472G>T (n.1168-472G>T)
c.2715G>T (p.Met905Ile)
c.2778G>T (p.Met926Ile)
c.2766G>T (p.Met922Ile)
2g.144398400C>GCA348706953ZEB2c.*2636G>C (n.*2636G>C)
c.2010G>C (p.Met670Ile)
c.2787G>C (p.Met929Ile)
n.2756G>C
c.2451G>C (p.Met817Ile)
c.2862G>C (p.Met954Ile)
c.*2504G>C (n.*2504G>C)
n.2887G>C
c.318G>C (p.Met106Ile)
c.2784G>C (p.Met928Ile)
c.655+2799G>C (n.655+2799G>C)
c.1168-472G>C (n.1168-472G>C)
c.2715G>C (p.Met905Ile)
c.2778G>C (p.Met926Ile)
c.2766G>C (p.Met922Ile)
 gnomAD v4
2g.144398400C>TCA348706951ZEB2c.*2636G>A (n.*2636G>A)
c.2010G>A (p.Met670Ile)
c.2787G>A (p.Met929Ile)
n.2756G>A
c.2451G>A (p.Met817Ile)
c.2862G>A (p.Met954Ile)
c.*2504G>A (n.*2504G>A)
n.2887G>A
c.318G>A (p.Met106Ile)
c.2784G>A (p.Met928Ile)
c.655+2799G>A (n.655+2799G>A)
c.1168-472G>A (n.1168-472G>A)
c.2715G>A (p.Met905Ile)
c.2778G>A (p.Met926Ile)
c.2766G>A (p.Met922Ile)
2g.144398401A=CA1294884877ZEB2c.*2635T= (n.*2635T=)
c.2009T= (p.Met670=)
c.2786T= (p.Met929=)
n.2755T=
c.2450T= (p.Met817=)
c.2861T= (p.Met954=)
c.*2503T= (n.*2503T=)
n.2886T=
c.317T= (p.Met106=)
c.2783T= (p.Met928=)
c.655+2798T= (n.655+2798T=)
c.1168-473T= (n.1168-473T=)
c.2714T= (p.Met905=)
c.2777T= (p.Met926=)
c.2765T= (p.Met922=)
2g.144398401A>CCA348706956ZEB2c.*2635T>G (n.*2635T>G)
c.2009T>G (p.Met670Arg)
c.2786T>G (p.Met929Arg)
n.2755T>G
c.2450T>G (p.Met817Arg)
c.2861T>G (p.Met954Arg)
c.*2503T>G (n.*2503T>G)
n.2886T>G
c.317T>G (p.Met106Arg)
c.2783T>G (p.Met928Arg)
c.655+2798T>G (n.655+2798T>G)
c.1168-473T>G (n.1168-473T>G)
c.2714T>G (p.Met905Arg)
c.2777T>G (p.Met926Arg)
c.2765T>G (p.Met922Arg)
 gnomAD v4
2g.144398401A>GCA348706957ZEB2c.*2635T>C (n.*2635T>C)
c.2009T>C (p.Met670Thr)
c.2786T>C (p.Met929Thr)
n.2755T>C
c.2450T>C (p.Met817Thr)
c.2861T>C (p.Met954Thr)
c.*2503T>C (n.*2503T>C)
n.2886T>C
c.317T>C (p.Met106Thr)
c.2783T>C (p.Met928Thr)
c.655+2798T>C (n.655+2798T>C)
c.1168-473T>C (n.1168-473T>C)
c.2714T>C (p.Met905Thr)
c.2777T>C (p.Met926Thr)
c.2765T>C (p.Met922Thr)
2g.144398401A>TCA348706959ZEB2c.*2635T>A (n.*2635T>A)
c.2009T>A (p.Met670Lys)
c.2786T>A (p.Met929Lys)
n.2755T>A
c.2450T>A (p.Met817Lys)
c.2861T>A (p.Met954Lys)
c.*2503T>A (n.*2503T>A)
n.2886T>A
c.317T>A (p.Met106Lys)
c.2783T>A (p.Met928Lys)
c.655+2798T>A (n.655+2798T>A)
c.1168-473T>A (n.1168-473T>A)
c.2714T>A (p.Met905Lys)
c.2777T>A (p.Met926Lys)
c.2765T>A (p.Met922Lys)
 dbSNP gnomAD v4
2g.144398402T>ACA348706962ZEB2c.*2634A>T (n.*2634A>T)
c.2008A>T (p.Met670Leu)
c.2785A>T (p.Met929Leu)
n.2754A>T
c.2449A>T (p.Met817Leu)
c.2860A>T (p.Met954Leu)
c.*2502A>T (n.*2502A>T)
n.2885A>T
c.316A>T (p.Met106Leu)
c.2782A>T (p.Met928Leu)
c.655+2797A>T (n.655+2797A>T)
c.1168-474A>T (n.1168-474A>T)
c.2713A>T (p.Met905Leu)
c.2776A>T (p.Met926Leu)
c.2764A>T (p.Met922Leu)
2g.144398402T>CCA1898210ZEB2c.*2634A>G (n.*2634A>G)
c.2008A>G (p.Met670Val)
c.2785A>G (p.Met929Val)
n.2754A>G
c.2449A>G (p.Met817Val)
c.2860A>G (p.Met954Val)
c.*2502A>G (n.*2502A>G)
n.2885A>G
c.316A>G (p.Met106Val)
c.2782A>G (p.Met928Val)
c.655+2797A>G (n.655+2797A>G)
c.1168-474A>G (n.1168-474A>G)
c.2713A>G (p.Met905Val)
c.2776A>G (p.Met926Val)
c.2764A>G (p.Met922Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.144398402T>GCA348706966ZEB2c.*2634A>C (n.*2634A>C)
c.2008A>C (p.Met670Leu)
c.2785A>C (p.Met929Leu)
n.2754A>C
c.2449A>C (p.Met817Leu)
c.2860A>C (p.Met954Leu)
c.*2502A>C (n.*2502A>C)
n.2885A>C
c.316A>C (p.Met106Leu)
c.2782A>C (p.Met928Leu)
c.655+2797A>C (n.655+2797A>C)
c.1168-474A>C (n.1168-474A>C)
c.2713A>C (p.Met905Leu)
c.2776A>C (p.Met926Leu)
c.2764A>C (p.Met922Leu)
2g.144398402T=CA1294884878ZEB2c.*2634A= (n.*2634A=)
c.2008A= (p.Met670=)
c.2785A= (p.Met929=)
n.2754A=
c.2449A= (p.Met817=)
c.2860A= (p.Met954=)
c.*2502A= (n.*2502A=)
n.2885A=
c.316A= (p.Met106=)
c.2782A= (p.Met928=)
c.655+2797A= (n.655+2797A=)
c.1168-474A= (n.1168-474A=)
c.2713A= (p.Met905=)
c.2776A= (p.Met926=)
c.2764A= (p.Met922=)
2g.144398403C>ACA348706969ZEB2c.*2633G>T (n.*2633G>T)
c.2007G>T (p.Gln669His)
c.2784G>T (p.Gln928His)
n.2753G>T
c.2448G>T (p.Gln816His)
c.2859G>T (p.Gln953His)
c.*2501G>T (n.*2501G>T)
n.2884G>T
c.315G>T (p.Gln105His)
c.2781G>T (p.Gln927His)
c.655+2796G>T (n.655+2796G>T)
c.1168-475G>T (n.1168-475G>T)
c.2712G>T (p.Gln904His)
c.2775G>T (p.Gln925His)
c.2763G>T (p.Gln921His)
2g.144398403C=CA1294884879ZEB2c.*2633G= (n.*2633G=)
c.2007G= (p.Gln669=)
c.2784G= (p.Gln928=)
n.2753G=
c.2448G= (p.Gln816=)
c.2859G= (p.Gln953=)
c.*2501G= (n.*2501G=)
n.2884G=
c.315G= (p.Gln105=)
c.2781G= (p.Gln927=)
c.655+2796G= (n.655+2796G=)
c.1168-475G= (n.1168-475G=)
c.2712G= (p.Gln904=)
c.2775G= (p.Gln925=)
c.2763G= (p.Gln921=)
2g.144398403C>GCA348706971ZEB2c.*2633G>C (n.*2633G>C)
c.2007G>C (p.Gln669His)
c.2784G>C (p.Gln928His)
n.2753G>C
c.2448G>C (p.Gln816His)
c.2859G>C (p.Gln953His)
c.*2501G>C (n.*2501G>C)
n.2884G>C
c.315G>C (p.Gln105His)
c.2781G>C (p.Gln927His)
c.655+2796G>C (n.655+2796G>C)
c.1168-475G>C (n.1168-475G>C)
c.2712G>C (p.Gln904His)
c.2775G>C (p.Gln925His)
c.2763G>C (p.Gln921His)
2g.144398403C>TCA1898211ZEB2c.*2633G>A (n.*2633G>A)
c.2007G>A (p.Gln669=)
c.2784G>A (p.Gln928=)
n.2753G>A
c.2448G>A (p.Gln816=)
c.2859G>A (p.Gln953=)
c.*2501G>A (n.*2501G>A)
n.2884G>A
c.315G>A (p.Gln105=)
c.2781G>A (p.Gln927=)
c.655+2796G>A (n.655+2796G>A)
c.1168-475G>A (n.1168-475G>A)
c.2712G>A (p.Gln904=)
c.2775G>A (p.Gln925=)
c.2763G>A (p.Gln921=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.144398404T>ACA348706975ZEB2c.*2632A>T (n.*2632A>T)
c.2006A>T (p.Gln669Leu)
c.2783A>T (p.Gln928Leu)
n.2752A>T
c.2447A>T (p.Gln816Leu)
c.2858A>T (p.Gln953Leu)
c.*2500A>T (n.*2500A>T)
n.2883A>T
c.314A>T (p.Gln105Leu)
c.2780A>T (p.Gln927Leu)
c.655+2795A>T (n.655+2795A>T)
c.1168-476A>T (n.1168-476A>T)
c.2711A>T (p.Gln904Leu)
c.2774A>T (p.Gln925Leu)
c.2762A>T (p.Gln921Leu)
2g.144398404T>CCA348706976ZEB2c.*2632A>G (n.*2632A>G)
c.2006A>G (p.Gln669Arg)
c.2783A>G (p.Gln928Arg)
n.2752A>G
c.2447A>G (p.Gln816Arg)
c.2858A>G (p.Gln953Arg)
c.*2500A>G (n.*2500A>G)
n.2883A>G
c.314A>G (p.Gln105Arg)
c.2780A>G (p.Gln927Arg)
c.655+2795A>G (n.655+2795A>G)
c.1168-476A>G (n.1168-476A>G)
c.2711A>G (p.Gln904Arg)
c.2774A>G (p.Gln925Arg)
c.2762A>G (p.Gln921Arg)
2g.144398404T>GCA348706978ZEB2c.*2632A>C (n.*2632A>C)
c.2006A>C (p.Gln669Pro)
c.2783A>C (p.Gln928Pro)
n.2752A>C
c.2447A>C (p.Gln816Pro)
c.2858A>C (p.Gln953Pro)
c.*2500A>C (n.*2500A>C)
n.2883A>C
c.314A>C (p.Gln105Pro)
c.2780A>C (p.Gln927Pro)
c.655+2795A>C (n.655+2795A>C)
c.1168-476A>C (n.1168-476A>C)
c.2711A>C (p.Gln904Pro)
c.2774A>C (p.Gln925Pro)
c.2762A>C (p.Gln921Pro)
2g.144398405G>ACA348706985ZEB2c.*2631C>T (n.*2631C>T)
c.2005C>T (p.Gln669Ter)
c.2782C>T (p.Gln928Ter)
n.2751C>T
c.2446C>T (p.Gln816Ter)
c.2857C>T (p.Gln953Ter)
c.*2499C>T (n.*2499C>T)
n.2882C>T
c.313C>T (p.Gln105Ter)
c.2779C>T (p.Gln927Ter)
c.655+2794C>T (n.655+2794C>T)
c.1168-477C>T (n.1168-477C>T)
c.2710C>T (p.Gln904Ter)
c.2773C>T (p.Gln925Ter)
c.2761C>T (p.Gln921Ter)
2g.144398405G>CCA348706983ZEB2c.*2631C>G (n.*2631C>G)
c.2005C>G (p.Gln669Glu)
c.2782C>G (p.Gln928Glu)
n.2751C>G
c.2446C>G (p.Gln816Glu)
c.2857C>G (p.Gln953Glu)
c.*2499C>G (n.*2499C>G)
n.2882C>G
c.313C>G (p.Gln105Glu)
c.2779C>G (p.Gln927Glu)
c.655+2794C>G (n.655+2794C>G)
c.1168-477C>G (n.1168-477C>G)
c.2710C>G (p.Gln904Glu)
c.2773C>G (p.Gln925Glu)
c.2761C>G (p.Gln921Glu)
2g.144398405G>TCA348706981ZEB2c.*2631C>A (n.*2631C>A)
c.2005C>A (p.Gln669Lys)
c.2782C>A (p.Gln928Lys)
n.2751C>A
c.2446C>A (p.Gln816Lys)
c.2857C>A (p.Gln953Lys)
c.*2499C>A (n.*2499C>A)
n.2882C>A
c.313C>A (p.Gln105Lys)
c.2779C>A (p.Gln927Lys)
c.655+2794C>A (n.655+2794C>A)
c.1168-477C>A (n.1168-477C>A)
c.2710C>A (p.Gln904Lys)
c.2773C>A (p.Gln925Lys)
c.2761C>A (p.Gln921Lys)
 gnomAD v4
2g.144398406A>CCA348706988ZEB2c.*2630T>G (n.*2630T>G)
c.2004T>G (p.Asp668Glu)
c.2781T>G (p.Asp927Glu)
n.2750T>G
c.2445T>G (p.Asp815Glu)
c.2856T>G (p.Asp952Glu)
c.*2498T>G (n.*2498T>G)
n.2881T>G
c.312T>G (p.Asp104Glu)
c.2778T>G (p.Asp926Glu)
c.655+2793T>G (n.655+2793T>G)
c.1168-478T>G (n.1168-478T>G)
c.2709T>G (p.Asp903Glu)
c.2772T>G (p.Asp924Glu)
c.2760T>G (p.Asp920Glu)
2g.144398406A>GCA429445070ZEB2c.*2630T>C (n.*2630T>C)
c.2004T>C (p.Asp668=)
c.2781T>C (p.Asp927=)
n.2750T>C
c.2445T>C (p.Asp815=)
c.2856T>C (p.Asp952=)
c.*2498T>C (n.*2498T>C)
n.2881T>C
c.312T>C (p.Asp104=)
c.2778T>C (p.Asp926=)
c.655+2793T>C (n.655+2793T>C)
c.1168-478T>C (n.1168-478T>C)
c.2709T>C (p.Asp903=)
c.2772T>C (p.Asp924=)
c.2760T>C (p.Asp920=)
2g.144398406A>TCA348706990ZEB2c.*2630T>A (n.*2630T>A)
c.2004T>A (p.Asp668Glu)
c.2781T>A (p.Asp927Glu)
n.2750T>A
c.2445T>A (p.Asp815Glu)
c.2856T>A (p.Asp952Glu)
c.*2498T>A (n.*2498T>A)
n.2881T>A
c.312T>A (p.Asp104Glu)
c.2778T>A (p.Asp926Glu)
c.655+2793T>A (n.655+2793T>A)
c.1168-478T>A (n.1168-478T>A)
c.2709T>A (p.Asp903Glu)
c.2772T>A (p.Asp924Glu)
c.2760T>A (p.Asp920Glu)
2g.144398407T>ACA348706992ZEB2c.*2629A>T (n.*2629A>T)
c.2003A>T (p.Asp668Val)
c.2780A>T (p.Asp927Val)
n.2749A>T
c.2444A>T (p.Asp815Val)
c.2855A>T (p.Asp952Val)
c.*2497A>T (n.*2497A>T)
n.2880A>T
c.311A>T (p.Asp104Val)
c.2777A>T (p.Asp926Val)
c.655+2792A>T (n.655+2792A>T)
c.1168-479A>T (n.1168-479A>T)
c.2708A>T (p.Asp903Val)
c.2771A>T (p.Asp924Val)
c.2759A>T (p.Asp920Val)
2g.144398407T>CCA348706994ZEB2c.*2629A>G (n.*2629A>G)
c.2003A>G (p.Asp668Gly)
c.2780A>G (p.Asp927Gly)
n.2749A>G
c.2444A>G (p.Asp815Gly)
c.2855A>G (p.Asp952Gly)
c.*2497A>G (n.*2497A>G)
n.2880A>G
c.311A>G (p.Asp104Gly)
c.2777A>G (p.Asp926Gly)
c.655+2792A>G (n.655+2792A>G)
c.1168-479A>G (n.1168-479A>G)
c.2708A>G (p.Asp903Gly)
c.2771A>G (p.Asp924Gly)
c.2759A>G (p.Asp920Gly)
2g.144398407T>GCA348706997ZEB2c.*2629A>C (n.*2629A>C)
c.2003A>C (p.Asp668Ala)
c.2780A>C (p.Asp927Ala)
n.2749A>C
c.2444A>C (p.Asp815Ala)
c.2855A>C (p.Asp952Ala)
c.*2497A>C (n.*2497A>C)
n.2880A>C
c.311A>C (p.Asp104Ala)
c.2777A>C (p.Asp926Ala)
c.655+2792A>C (n.655+2792A>C)
c.1168-479A>C (n.1168-479A>C)
c.2708A>C (p.Asp903Ala)
c.2771A>C (p.Asp924Ala)
c.2759A>C (p.Asp920Ala)
2g.144398408C>ACA348706999ZEB2c.*2628G>T (n.*2628G>T)
c.2002G>T (p.Asp668Tyr)
c.2779G>T (p.Asp927Tyr)
n.2748G>T
c.2443G>T (p.Asp815Tyr)
c.2854G>T (p.Asp952Tyr)
c.*2496G>T (n.*2496G>T)
n.2879G>T
c.310G>T (p.Asp104Tyr)
c.2776G>T (p.Asp926Tyr)
c.655+2791G>T (n.655+2791G>T)
c.1168-480G>T (n.1168-480G>T)
c.2707G>T (p.Asp903Tyr)
c.2770G>T (p.Asp924Tyr)
c.2758G>T (p.Asp920Tyr)
2g.144398408C>GCA348707001ZEB2c.*2628G>C (n.*2628G>C)
c.2002G>C (p.Asp668His)
c.2779G>C (p.Asp927His)
n.2748G>C
c.2443G>C (p.Asp815His)
c.2854G>C (p.Asp952His)
c.*2496G>C (n.*2496G>C)
n.2879G>C
c.310G>C (p.Asp104His)
c.2776G>C (p.Asp926His)
c.655+2791G>C (n.655+2791G>C)
c.1168-480G>C (n.1168-480G>C)
c.2707G>C (p.Asp903His)
c.2770G>C (p.Asp924His)
c.2758G>C (p.Asp920His)
2g.144398408C>TCA348707003ZEB2c.*2628G>A (n.*2628G>A)
c.2002G>A (p.Asp668Asn)
c.2779G>A (p.Asp927Asn)
n.2748G>A
c.2443G>A (p.Asp815Asn)
c.2854G>A (p.Asp952Asn)
c.*2496G>A (n.*2496G>A)
n.2879G>A
c.310G>A (p.Asp104Asn)
c.2776G>A (p.Asp926Asn)
c.655+2791G>A (n.655+2791G>A)
c.1168-480G>A (n.1168-480G>A)
c.2707G>A (p.Asp903Asn)
c.2770G>A (p.Asp924Asn)
c.2758G>A (p.Asp920Asn)
2g.144398409C>ACA429445073ZEB2c.*2627G>T (n.*2627G>T)
c.2001G>T (p.Leu667=)
c.2778G>T (p.Leu926=)
n.2747G>T
c.2442G>T (p.Leu814=)
c.2853G>T (p.Leu951=)
c.*2495G>T (n.*2495G>T)
n.2878G>T
c.309G>T (p.Leu103=)
c.2775G>T (p.Leu925=)
c.655+2790G>T (n.655+2790G>T)
c.1168-481G>T (n.1168-481G>T)
c.2706G>T (p.Leu902=)
c.2769G>T (p.Leu923=)
c.2757G>T (p.Leu919=)
2g.144398409C>GCA429445071ZEB2c.*2627G>C (n.*2627G>C)
c.2001G>C (p.Leu667=)
c.2778G>C (p.Leu926=)
n.2747G>C
c.2442G>C (p.Leu814=)
c.2853G>C (p.Leu951=)
c.*2495G>C (n.*2495G>C)
n.2878G>C
c.309G>C (p.Leu103=)
c.2775G>C (p.Leu925=)
c.655+2790G>C (n.655+2790G>C)
c.1168-481G>C (n.1168-481G>C)
c.2706G>C (p.Leu902=)
c.2769G>C (p.Leu923=)
c.2757G>C (p.Leu919=)
2g.144398409C>TCA429445072ZEB2c.*2627G>A (n.*2627G>A)
c.2001G>A (p.Leu667=)
c.2778G>A (p.Leu926=)
n.2747G>A
c.2442G>A (p.Leu814=)
c.2853G>A (p.Leu951=)
c.*2495G>A (n.*2495G>A)
n.2878G>A
c.309G>A (p.Leu103=)
c.2775G>A (p.Leu925=)
c.655+2790G>A (n.655+2790G>A)
c.1168-481G>A (n.1168-481G>A)
c.2706G>A (p.Leu902=)
c.2769G>A (p.Leu923=)
c.2757G>A (p.Leu919=)
2g.144398410A=CA1294884880ZEB2c.*2626T= (n.*2626T=)
c.2000T= (p.Leu667=)
c.2777T= (p.Leu926=)
n.2746T=
c.2441T= (p.Leu814=)
c.2852T= (p.Leu951=)
c.*2494T= (n.*2494T=)
n.2877T=
c.308T= (p.Leu103=)
c.2774T= (p.Leu925=)
c.655+2789T= (n.655+2789T=)
c.1168-482T= (n.1168-482T=)
c.2705T= (p.Leu902=)
c.2768T= (p.Leu923=)
c.2756T= (p.Leu919=)
2g.144398410A>CCA348707006ZEB2c.*2626T>G (n.*2626T>G)
c.2000T>G (p.Leu667Arg)
c.2777T>G (p.Leu926Arg)
n.2746T>G
c.2441T>G (p.Leu814Arg)
c.2852T>G (p.Leu951Arg)
c.*2494T>G (n.*2494T>G)
n.2877T>G
c.308T>G (p.Leu103Arg)
c.2774T>G (p.Leu925Arg)
c.655+2789T>G (n.655+2789T>G)
c.1168-482T>G (n.1168-482T>G)
c.2705T>G (p.Leu902Arg)
c.2768T>G (p.Leu923Arg)
c.2756T>G (p.Leu919Arg)
2g.144398410A>GCA348707008ZEB2c.*2626T>C (n.*2626T>C)
c.2000T>C (p.Leu667Pro)
c.2777T>C (p.Leu926Pro)
n.2746T>C
c.2441T>C (p.Leu814Pro)
c.2852T>C (p.Leu951Pro)
c.*2494T>C (n.*2494T>C)
n.2877T>C
c.308T>C (p.Leu103Pro)
c.2774T>C (p.Leu925Pro)
c.655+2789T>C (n.655+2789T>C)
c.1168-482T>C (n.1168-482T>C)
c.2705T>C (p.Leu902Pro)
c.2768T>C (p.Leu923Pro)
c.2756T>C (p.Leu919Pro)
 dbSNP
2g.144398410A>TCA348707010ZEB2c.*2626T>A (n.*2626T>A)
c.2000T>A (p.Leu667Gln)
c.2777T>A (p.Leu926Gln)
n.2746T>A
c.2441T>A (p.Leu814Gln)
c.2852T>A (p.Leu951Gln)
c.*2494T>A (n.*2494T>A)
n.2877T>A
c.308T>A (p.Leu103Gln)
c.2774T>A (p.Leu925Gln)
c.655+2789T>A (n.655+2789T>A)
c.1168-482T>A (n.1168-482T>A)
c.2705T>A (p.Leu902Gln)
c.2768T>A (p.Leu923Gln)
c.2756T>A (p.Leu919Gln)
2g.144398411G>ACA429445077ZEB2c.*2625C>T (n.*2625C>T)
c.1999C>T (p.Leu667=)
c.2776C>T (p.Leu926=)
n.2745C>T
c.2440C>T (p.Leu814=)
c.2851C>T (p.Leu951=)
c.*2493C>T (n.*2493C>T)
n.2876C>T
c.307C>T (p.Leu103=)
c.2773C>T (p.Leu925=)
c.655+2788C>T (n.655+2788C>T)
c.1168-483C>T (n.1168-483C>T)
c.2704C>T (p.Leu902=)
c.2767C>T (p.Leu923=)
c.2755C>T (p.Leu919=)
 COSMIC
2g.144398411G>CCA348707013ZEB2c.*2625C>G (n.*2625C>G)
c.1999C>G (p.Leu667Val)
c.2776C>G (p.Leu926Val)
n.2745C>G
c.2440C>G (p.Leu814Val)
c.2851C>G (p.Leu951Val)
c.*2493C>G (n.*2493C>G)
n.2876C>G
c.307C>G (p.Leu103Val)
c.2773C>G (p.Leu925Val)
c.655+2788C>G (n.655+2788C>G)
c.1168-483C>G (n.1168-483C>G)
c.2704C>G (p.Leu902Val)
c.2767C>G (p.Leu923Val)
c.2755C>G (p.Leu919Val)
2g.144398411G>TCA348707014ZEB2c.*2625C>A (n.*2625C>A)
c.1999C>A (p.Leu667Met)
c.2776C>A (p.Leu926Met)
n.2745C>A
c.2440C>A (p.Leu814Met)
c.2851C>A (p.Leu951Met)
c.*2493C>A (n.*2493C>A)
n.2876C>A
c.307C>A (p.Leu103Met)
c.2773C>A (p.Leu925Met)
c.655+2788C>A (n.655+2788C>A)
c.1168-483C>A (n.1168-483C>A)
c.2704C>A (p.Leu902Met)
c.2767C>A (p.Leu923Met)
c.2755C>A (p.Leu919Met)
2g.144398412T>ACA429445078ZEB2c.*2624A>T (n.*2624A>T)
c.1998A>T (p.Gly666=)
c.2775A>T (p.Gly925=)
n.2744A>T
c.2439A>T (p.Gly813=)
c.2850A>T (p.Gly950=)
c.*2492A>T (n.*2492A>T)
n.2875A>T
c.306A>T (p.Gly102=)
c.2772A>T (p.Gly924=)
c.655+2787A>T (n.655+2787A>T)
c.1168-484A>T (n.1168-484A>T)
c.2703A>T (p.Gly901=)
c.2766A>T (p.Gly922=)
c.2754A>T (p.Gly918=)
2g.144398412T>CCA429445080ZEB2c.*2624A>G (n.*2624A>G)
c.1998A>G (p.Gly666=)
c.2775A>G (p.Gly925=)
n.2744A>G
c.2439A>G (p.Gly813=)
c.2850A>G (p.Gly950=)
c.*2492A>G (n.*2492A>G)
n.2875A>G
c.306A>G (p.Gly102=)
c.2772A>G (p.Gly924=)
c.655+2787A>G (n.655+2787A>G)
c.1168-484A>G (n.1168-484A>G)
c.2703A>G (p.Gly901=)
c.2766A>G (p.Gly922=)
c.2754A>G (p.Gly918=)
2g.144398412T>GCA429445082ZEB2c.*2624A>C (n.*2624A>C)
c.1998A>C (p.Gly666=)
c.2775A>C (p.Gly925=)
n.2744A>C
c.2439A>C (p.Gly813=)
c.2850A>C (p.Gly950=)
c.*2492A>C (n.*2492A>C)
n.2875A>C
c.306A>C (p.Gly102=)
c.2772A>C (p.Gly924=)
c.655+2787A>C (n.655+2787A>C)
c.1168-484A>C (n.1168-484A>C)
c.2703A>C (p.Gly901=)
c.2766A>C (p.Gly922=)
c.2754A>C (p.Gly918=)

Number of alleles fetched