Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.144396574C>ACA348704856ZEB2c.*2754G>T (n.*2754G>T)
c.2128G>T (p.Ala710Ser)
c.2905G>T (p.Ala969Ser)
n.2874G>T
c.2569G>T (p.Ala857Ser)
c.2980G>T (p.Ala994Ser)
c.*2622G>T (n.*2622G>T)
n.3005G>T
c.37G>T (p.Ala13Ser)
c.436G>T (p.Ala146Ser)
c.2902G>T (p.Ala968Ser)
c.655+4625G>T (n.655+4625G>T)
c.2833G>T (p.Ala945Ser)
c.2896G>T (p.Ala966Ser)
c.2884G>T (p.Ala962Ser)
2g.144396574C=CA1294884118ZEB2c.*2754G= (n.*2754G=)
c.2128G= (p.Ala710=)
c.2905G= (p.Ala969=)
n.2874G=
c.2569G= (p.Ala857=)
c.2980G= (p.Ala994=)
c.*2622G= (n.*2622G=)
n.3005G=
c.37G= (p.Ala13=)
c.436G= (p.Ala146=)
c.2902G= (p.Ala968=)
c.655+4625G= (n.655+4625G=)
c.2833G= (p.Ala945=)
c.2896G= (p.Ala966=)
c.2884G= (p.Ala962=)
2g.144396574C>GCA348704859ZEB2c.*2754G>C (n.*2754G>C)
c.2128G>C (p.Ala710Pro)
c.2905G>C (p.Ala969Pro)
n.2874G>C
c.2569G>C (p.Ala857Pro)
c.2980G>C (p.Ala994Pro)
c.*2622G>C (n.*2622G>C)
n.3005G>C
c.37G>C (p.Ala13Pro)
c.436G>C (p.Ala146Pro)
c.2902G>C (p.Ala968Pro)
c.655+4625G>C (n.655+4625G>C)
c.2833G>C (p.Ala945Pro)
c.2896G>C (p.Ala966Pro)
c.2884G>C (p.Ala962Pro)
2g.144396574C>TCA348704862ZEB2c.*2754G>A (n.*2754G>A)
c.2128G>A (p.Ala710Thr)
c.2905G>A (p.Ala969Thr)
n.2874G>A
c.2569G>A (p.Ala857Thr)
c.2980G>A (p.Ala994Thr)
c.*2622G>A (n.*2622G>A)
n.3005G>A
c.37G>A (p.Ala13Thr)
c.436G>A (p.Ala146Thr)
c.2902G>A (p.Ala968Thr)
c.655+4625G>A (n.655+4625G>A)
c.2833G>A (p.Ala945Thr)
c.2896G>A (p.Ala966Thr)
c.2884G>A (p.Ala962Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.144396575T>ACA429217652ZEB2c.*2753A>T (n.*2753A>T)
c.2127A>T (p.Gly709=)
c.2904A>T (p.Gly968=)
n.2873A>T
c.2568A>T (p.Gly856=)
c.2979A>T (p.Gly993=)
c.*2621A>T (n.*2621A>T)
n.3004A>T
c.36A>T (p.Gly12=)
c.435A>T (p.Gly145=)
c.2901A>T (p.Gly967=)
c.655+4624A>T (n.655+4624A>T)
c.2832A>T (p.Gly944=)
c.2895A>T (p.Gly965=)
c.2883A>T (p.Gly961=)
2g.144396575T>CCA429217653ZEB2c.*2753A>G (n.*2753A>G)
c.2127A>G (p.Gly709=)
c.2904A>G (p.Gly968=)
n.2873A>G
c.2568A>G (p.Gly856=)
c.2979A>G (p.Gly993=)
c.*2621A>G (n.*2621A>G)
n.3004A>G
c.36A>G (p.Gly12=)
c.435A>G (p.Gly145=)
c.2901A>G (p.Gly967=)
c.655+4624A>G (n.655+4624A>G)
c.2832A>G (p.Gly944=)
c.2895A>G (p.Gly965=)
c.2883A>G (p.Gly961=)
2g.144396575T>GCA429217654ZEB2c.*2753A>C (n.*2753A>C)
c.2127A>C (p.Gly709=)
c.2904A>C (p.Gly968=)
n.2873A>C
c.2568A>C (p.Gly856=)
c.2979A>C (p.Gly993=)
c.*2621A>C (n.*2621A>C)
n.3004A>C
c.36A>C (p.Gly12=)
c.435A>C (p.Gly145=)
c.2901A>C (p.Gly967=)
c.655+4624A>C (n.655+4624A>C)
c.2832A>C (p.Gly944=)
c.2895A>C (p.Gly965=)
c.2883A>C (p.Gly961=)
2g.144396576C>ACA348704884ZEB2c.*2752G>T (n.*2752G>T)
c.2126G>T (p.Gly709Val)
c.2903G>T (p.Gly968Val)
n.2872G>T
c.2567G>T (p.Gly856Val)
c.2978G>T (p.Gly993Val)
c.*2620G>T (n.*2620G>T)
n.3003G>T
c.35G>T (p.Gly12Val)
c.434G>T (p.Gly145Val)
c.2900G>T (p.Gly967Val)
c.655+4623G>T (n.655+4623G>T)
c.2831G>T (p.Gly944Val)
c.2894G>T (p.Gly965Val)
c.2882G>T (p.Gly961Val)
2g.144396576C>GCA348704874ZEB2c.*2752G>C (n.*2752G>C)
c.2126G>C (p.Gly709Ala)
c.2903G>C (p.Gly968Ala)
n.2872G>C
c.2567G>C (p.Gly856Ala)
c.2978G>C (p.Gly993Ala)
c.*2620G>C (n.*2620G>C)
n.3003G>C
c.35G>C (p.Gly12Ala)
c.434G>C (p.Gly145Ala)
c.2900G>C (p.Gly967Ala)
c.655+4623G>C (n.655+4623G>C)
c.2831G>C (p.Gly944Ala)
c.2894G>C (p.Gly965Ala)
c.2882G>C (p.Gly961Ala)
2g.144396576C>TCA348704877ZEB2c.*2752G>A (n.*2752G>A)
c.2126G>A (p.Gly709Glu)
c.2903G>A (p.Gly968Glu)
n.2872G>A
c.2567G>A (p.Gly856Glu)
c.2978G>A (p.Gly993Glu)
c.*2620G>A (n.*2620G>A)
n.3003G>A
c.35G>A (p.Gly12Glu)
c.434G>A (p.Gly145Glu)
c.2900G>A (p.Gly967Glu)
c.655+4623G>A (n.655+4623G>A)
c.2831G>A (p.Gly944Glu)
c.2894G>A (p.Gly965Glu)
c.2882G>A (p.Gly961Glu)
2g.144396577C>ACA348704890ZEB2c.*2751G>T (n.*2751G>T)
c.2125G>T (p.Gly709Ter)
c.2902G>T (p.Gly968Ter)
n.2871G>T
c.2566G>T (p.Gly856Ter)
c.2977G>T (p.Gly993Ter)
c.*2619G>T (n.*2619G>T)
n.3002G>T
c.34G>T (p.Gly12Ter)
c.433G>T (p.Gly145Ter)
c.2899G>T (p.Gly967Ter)
c.655+4622G>T (n.655+4622G>T)
c.2830G>T (p.Gly944Ter)
c.2893G>T (p.Gly965Ter)
c.2881G>T (p.Gly961Ter)
2g.144396577C>GCA348704892ZEB2c.*2751G>C (n.*2751G>C)
c.2125G>C (p.Gly709Arg)
c.2902G>C (p.Gly968Arg)
n.2871G>C
c.2566G>C (p.Gly856Arg)
c.2977G>C (p.Gly993Arg)
c.*2619G>C (n.*2619G>C)
n.3002G>C
c.34G>C (p.Gly12Arg)
c.433G>C (p.Gly145Arg)
c.2899G>C (p.Gly967Arg)
c.655+4622G>C (n.655+4622G>C)
c.2830G>C (p.Gly944Arg)
c.2893G>C (p.Gly965Arg)
c.2881G>C (p.Gly961Arg)
2g.144396577C>TCA348704894ZEB2c.*2751G>A (n.*2751G>A)
c.2125G>A (p.Gly709Arg)
c.2902G>A (p.Gly968Arg)
n.2871G>A
c.2566G>A (p.Gly856Arg)
c.2977G>A (p.Gly993Arg)
c.*2619G>A (n.*2619G>A)
n.3002G>A
c.34G>A (p.Gly12Arg)
c.433G>A (p.Gly145Arg)
c.2899G>A (p.Gly967Arg)
c.655+4622G>A (n.655+4622G>A)
c.2830G>A (p.Gly944Arg)
c.2893G>A (p.Gly965Arg)
c.2881G>A (p.Gly961Arg)
2g.144396578A>CCA348704900ZEB2c.*2750T>G (n.*2750T>G)
c.2124T>G (p.Asp708Glu)
c.2901T>G (p.Asp967Glu)
n.2870T>G
c.2565T>G (p.Asp855Glu)
c.2976T>G (p.Asp992Glu)
c.*2618T>G (n.*2618T>G)
n.3001T>G
c.33T>G (p.Asp11Glu)
c.432T>G (p.Asp144Glu)
c.2898T>G (p.Asp966Glu)
c.655+4621T>G (n.655+4621T>G)
c.2829T>G (p.Asp943Glu)
c.2892T>G (p.Asp964Glu)
c.2880T>G (p.Asp960Glu)
2g.144396578A>GCA429217655ZEB2c.*2750T>C (n.*2750T>C)
c.2124T>C (p.Asp708=)
c.2901T>C (p.Asp967=)
n.2870T>C
c.2565T>C (p.Asp855=)
c.2976T>C (p.Asp992=)
c.*2618T>C (n.*2618T>C)
n.3001T>C
c.33T>C (p.Asp11=)
c.432T>C (p.Asp144=)
c.2898T>C (p.Asp966=)
c.655+4621T>C (n.655+4621T>C)
c.2829T>C (p.Asp943=)
c.2892T>C (p.Asp964=)
c.2880T>C (p.Asp960=)
2g.144396578A>TCA348704903ZEB2c.*2750T>A (n.*2750T>A)
c.2124T>A (p.Asp708Glu)
c.2901T>A (p.Asp967Glu)
n.2870T>A
c.2565T>A (p.Asp855Glu)
c.2976T>A (p.Asp992Glu)
c.*2618T>A (n.*2618T>A)
n.3001T>A
c.33T>A (p.Asp11Glu)
c.432T>A (p.Asp144Glu)
c.2898T>A (p.Asp966Glu)
c.655+4621T>A (n.655+4621T>A)
c.2829T>A (p.Asp943Glu)
c.2892T>A (p.Asp964Glu)
c.2880T>A (p.Asp960Glu)
2g.144396579T>ACA348704908ZEB2c.*2749A>T (n.*2749A>T)
c.2123A>T (p.Asp708Val)
c.2900A>T (p.Asp967Val)
n.2869A>T
c.2564A>T (p.Asp855Val)
c.2975A>T (p.Asp992Val)
c.*2617A>T (n.*2617A>T)
n.3000A>T
c.32A>T (p.Asp11Val)
c.431A>T (p.Asp144Val)
c.2897A>T (p.Asp966Val)
c.655+4620A>T (n.655+4620A>T)
c.2828A>T (p.Asp943Val)
c.2891A>T (p.Asp964Val)
c.2879A>T (p.Asp960Val)
2g.144396579T>CCA348704917ZEB2c.*2749A>G (n.*2749A>G)
c.2123A>G (p.Asp708Gly)
c.2900A>G (p.Asp967Gly)
n.2869A>G
c.2564A>G (p.Asp855Gly)
c.2975A>G (p.Asp992Gly)
c.*2617A>G (n.*2617A>G)
n.3000A>G
c.32A>G (p.Asp11Gly)
c.431A>G (p.Asp144Gly)
c.2897A>G (p.Asp966Gly)
c.655+4620A>G (n.655+4620A>G)
c.2828A>G (p.Asp943Gly)
c.2891A>G (p.Asp964Gly)
c.2879A>G (p.Asp960Gly)
2g.144396579T>GCA348704913ZEB2c.*2749A>C (n.*2749A>C)
c.2123A>C (p.Asp708Ala)
c.2900A>C (p.Asp967Ala)
n.2869A>C
c.2564A>C (p.Asp855Ala)
c.2975A>C (p.Asp992Ala)
c.*2617A>C (n.*2617A>C)
n.3000A>C
c.32A>C (p.Asp11Ala)
c.431A>C (p.Asp144Ala)
c.2897A>C (p.Asp966Ala)
c.655+4620A>C (n.655+4620A>C)
c.2828A>C (p.Asp943Ala)
c.2891A>C (p.Asp964Ala)
c.2879A>C (p.Asp960Ala)
2g.144396580C>ACA348704920ZEB2c.*2748G>T (n.*2748G>T)
c.2122G>T (p.Asp708Tyr)
c.2899G>T (p.Asp967Tyr)
n.2868G>T
c.2563G>T (p.Asp855Tyr)
c.2974G>T (p.Asp992Tyr)
c.*2616G>T (n.*2616G>T)
n.2999G>T
c.31G>T (p.Asp11Tyr)
c.430G>T (p.Asp144Tyr)
c.2896G>T (p.Asp966Tyr)
c.655+4619G>T (n.655+4619G>T)
c.2827G>T (p.Asp943Tyr)
c.2890G>T (p.Asp964Tyr)
c.2878G>T (p.Asp960Tyr)
2g.144396580C=CA1294884119ZEB2c.*2748G= (n.*2748G=)
c.2122G= (p.Asp708=)
c.2899G= (p.Asp967=)
n.2868G=
c.2563G= (p.Asp855=)
c.2974G= (p.Asp992=)
c.*2616G= (n.*2616G=)
n.2999G=
c.31G= (p.Asp11=)
c.430G= (p.Asp144=)
c.2896G= (p.Asp966=)
c.655+4619G= (n.655+4619G=)
c.2827G= (p.Asp943=)
c.2890G= (p.Asp964=)
c.2878G= (p.Asp960=)
2g.144396580C>GCA348704923ZEB2c.*2748G>C (n.*2748G>C)
c.2122G>C (p.Asp708His)
c.2899G>C (p.Asp967His)
n.2868G>C
c.2563G>C (p.Asp855His)
c.2974G>C (p.Asp992His)
c.*2616G>C (n.*2616G>C)
n.2999G>C
c.31G>C (p.Asp11His)
c.430G>C (p.Asp144His)
c.2896G>C (p.Asp966His)
c.655+4619G>C (n.655+4619G>C)
c.2827G>C (p.Asp943His)
c.2890G>C (p.Asp964His)
c.2878G>C (p.Asp960His)
2g.144396580C>TCA348704928ZEB2c.*2748G>A (n.*2748G>A)
c.2122G>A (p.Asp708Asn)
c.2899G>A (p.Asp967Asn)
n.2868G>A
c.2563G>A (p.Asp855Asn)
c.2974G>A (p.Asp992Asn)
c.*2616G>A (n.*2616G>A)
n.2999G>A
c.31G>A (p.Asp11Asn)
c.430G>A (p.Asp144Asn)
c.2896G>A (p.Asp966Asn)
c.655+4619G>A (n.655+4619G>A)
c.2827G>A (p.Asp943Asn)
c.2890G>A (p.Asp964Asn)
c.2878G>A (p.Asp960Asn)
 ClinVar dbSNP
2g.144396581A>CCA429217656ZEB2c.*2747T>G (n.*2747T>G)
c.2121T>G (p.Leu707=)
c.2898T>G (p.Leu966=)
n.2867T>G
c.2562T>G (p.Leu854=)
c.2973T>G (p.Leu991=)
c.*2615T>G (n.*2615T>G)
n.2998T>G
c.30T>G (p.Leu10=)
c.429T>G (p.Leu143=)
c.2895T>G (p.Leu965=)
c.655+4618T>G (n.655+4618T>G)
c.2826T>G (p.Leu942=)
c.2889T>G (p.Leu963=)
c.2877T>G (p.Leu959=)
2g.144396581A>GCA429217657ZEB2c.*2747T>C (n.*2747T>C)
c.2121T>C (p.Leu707=)
c.2898T>C (p.Leu966=)
n.2867T>C
c.2562T>C (p.Leu854=)
c.2973T>C (p.Leu991=)
c.*2615T>C (n.*2615T>C)
n.2998T>C
c.30T>C (p.Leu10=)
c.429T>C (p.Leu143=)
c.2895T>C (p.Leu965=)
c.655+4618T>C (n.655+4618T>C)
c.2826T>C (p.Leu942=)
c.2889T>C (p.Leu963=)
c.2877T>C (p.Leu959=)
2g.144396581A>TCA429217658ZEB2c.*2747T>A (n.*2747T>A)
c.2121T>A (p.Leu707=)
c.2898T>A (p.Leu966=)
n.2867T>A
c.2562T>A (p.Leu854=)
c.2973T>A (p.Leu991=)
c.*2615T>A (n.*2615T>A)
n.2998T>A
c.30T>A (p.Leu10=)
c.429T>A (p.Leu143=)
c.2895T>A (p.Leu965=)
c.655+4618T>A (n.655+4618T>A)
c.2826T>A (p.Leu942=)
c.2889T>A (p.Leu963=)
c.2877T>A (p.Leu959=)
2g.144396582A>CCA348704944ZEB2c.*2746T>G (n.*2746T>G)
c.2120T>G (p.Leu707Arg)
c.2897T>G (p.Leu966Arg)
n.2866T>G
c.2561T>G (p.Leu854Arg)
c.2972T>G (p.Leu991Arg)
c.*2614T>G (n.*2614T>G)
n.2997T>G
c.29T>G (p.Leu10Arg)
c.428T>G (p.Leu143Arg)
c.2894T>G (p.Leu965Arg)
c.655+4617T>G (n.655+4617T>G)
c.2825T>G (p.Leu942Arg)
c.2888T>G (p.Leu963Arg)
c.2876T>G (p.Leu959Arg)
2g.144396582A>GCA348704947ZEB2c.*2746T>C (n.*2746T>C)
c.2120T>C (p.Leu707Pro)
c.2897T>C (p.Leu966Pro)
n.2866T>C
c.2561T>C (p.Leu854Pro)
c.2972T>C (p.Leu991Pro)
c.*2614T>C (n.*2614T>C)
n.2997T>C
c.29T>C (p.Leu10Pro)
c.428T>C (p.Leu143Pro)
c.2894T>C (p.Leu965Pro)
c.655+4617T>C (n.655+4617T>C)
c.2825T>C (p.Leu942Pro)
c.2888T>C (p.Leu963Pro)
c.2876T>C (p.Leu959Pro)
2g.144396582A>TCA348704953ZEB2c.*2746T>A (n.*2746T>A)
c.2120T>A (p.Leu707His)
c.2897T>A (p.Leu966His)
n.2866T>A
c.2561T>A (p.Leu854His)
c.2972T>A (p.Leu991His)
c.*2614T>A (n.*2614T>A)
n.2997T>A
c.29T>A (p.Leu10His)
c.428T>A (p.Leu143His)
c.2894T>A (p.Leu965His)
c.655+4617T>A (n.655+4617T>A)
c.2825T>A (p.Leu942His)
c.2888T>A (p.Leu963His)
c.2876T>A (p.Leu959His)
2g.144396583G>ACA348704958ZEB2c.*2745C>T (n.*2745C>T)
c.2119C>T (p.Leu707Phe)
c.2896C>T (p.Leu966Phe)
n.2865C>T
c.2560C>T (p.Leu854Phe)
c.2971C>T (p.Leu991Phe)
c.*2613C>T (n.*2613C>T)
n.2996C>T
c.28C>T (p.Leu10Phe)
c.427C>T (p.Leu143Phe)
c.2893C>T (p.Leu965Phe)
c.655+4616C>T (n.655+4616C>T)
c.2824C>T (p.Leu942Phe)
c.2887C>T (p.Leu963Phe)
c.2875C>T (p.Leu959Phe)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.144396583G>CCA348704975ZEB2c.*2745C>G (n.*2745C>G)
c.2119C>G (p.Leu707Val)
c.2896C>G (p.Leu966Val)
n.2865C>G
c.2560C>G (p.Leu854Val)
c.2971C>G (p.Leu991Val)
c.*2613C>G (n.*2613C>G)
n.2996C>G
c.28C>G (p.Leu10Val)
c.427C>G (p.Leu143Val)
c.2893C>G (p.Leu965Val)
c.655+4616C>G (n.655+4616C>G)
c.2824C>G (p.Leu942Val)
c.2887C>G (p.Leu963Val)
c.2875C>G (p.Leu959Val)
2g.144396583G=CA1294884120ZEB2c.*2745C= (n.*2745C=)
c.2119C= (p.Leu707=)
c.2896C= (p.Leu966=)
n.2865C=
c.2560C= (p.Leu854=)
c.2971C= (p.Leu991=)
c.*2613C= (n.*2613C=)
n.2996C=
c.28C= (p.Leu10=)
c.427C= (p.Leu143=)
c.2893C= (p.Leu965=)
c.655+4616C= (n.655+4616C=)
c.2824C= (p.Leu942=)
c.2887C= (p.Leu963=)
c.2875C= (p.Leu959=)
2g.144396583G>TCA1898175ZEB2c.*2745C>A (n.*2745C>A)
c.2119C>A (p.Leu707Ile)
c.2896C>A (p.Leu966Ile)
n.2865C>A
c.2560C>A (p.Leu854Ile)
c.2971C>A (p.Leu991Ile)
c.*2613C>A (n.*2613C>A)
n.2996C>A
c.28C>A (p.Leu10Ile)
c.427C>A (p.Leu143Ile)
c.2893C>A (p.Leu965Ile)
c.655+4616C>A (n.655+4616C>A)
c.2824C>A (p.Leu942Ile)
c.2887C>A (p.Leu963Ile)
c.2875C>A (p.Leu959Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.144396584C>ACA348704985ZEB2c.*2744G>T (n.*2744G>T)
c.2118G>T (p.Leu706Phe)
c.2895G>T (p.Leu965Phe)
n.2864G>T
c.2559G>T (p.Leu853Phe)
c.2970G>T (p.Leu990Phe)
c.*2612G>T (n.*2612G>T)
n.2995G>T
c.27G>T (p.Leu9Phe)
c.426G>T (p.Leu142Phe)
c.2892G>T (p.Leu964Phe)
c.655+4615G>T (n.655+4615G>T)
c.2823G>T (p.Leu941Phe)
c.2886G>T (p.Leu962Phe)
c.2874G>T (p.Leu958Phe)
2g.144396584C=CA1294884121ZEB2c.*2744G= (n.*2744G=)
c.2118G= (p.Leu706=)
c.2895G= (p.Leu965=)
n.2864G=
c.2559G= (p.Leu853=)
c.2970G= (p.Leu990=)
c.*2612G= (n.*2612G=)
n.2995G=
c.27G= (p.Leu9=)
c.426G= (p.Leu142=)
c.2892G= (p.Leu964=)
c.655+4615G= (n.655+4615G=)
c.2823G= (p.Leu941=)
c.2886G= (p.Leu962=)
c.2874G= (p.Leu958=)
2g.144396584C>GCA348704990ZEB2c.*2744G>C (n.*2744G>C)
c.2118G>C (p.Leu706Phe)
c.2895G>C (p.Leu965Phe)
n.2864G>C
c.2559G>C (p.Leu853Phe)
c.2970G>C (p.Leu990Phe)
c.*2612G>C (n.*2612G>C)
n.2995G>C
c.27G>C (p.Leu9Phe)
c.426G>C (p.Leu142Phe)
c.2892G>C (p.Leu964Phe)
c.655+4615G>C (n.655+4615G>C)
c.2823G>C (p.Leu941Phe)
c.2886G>C (p.Leu962Phe)
c.2874G>C (p.Leu958Phe)
 gnomAD v4
2g.144396584C>TCA1898176ZEB2c.*2744G>A (n.*2744G>A)
c.2118G>A (p.Leu706=)
c.2895G>A (p.Leu965=)
n.2864G>A
c.2559G>A (p.Leu853=)
c.2970G>A (p.Leu990=)
c.*2612G>A (n.*2612G>A)
n.2995G>A
c.27G>A (p.Leu9=)
c.426G>A (p.Leu142=)
c.2892G>A (p.Leu964=)
c.655+4615G>A (n.655+4615G>A)
c.2823G>A (p.Leu941=)
c.2886G>A (p.Leu962=)
c.2874G>A (p.Leu958=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.144396585A=CA1294884122ZEB2c.*2743T= (n.*2743T=)
c.2117T= (p.Leu706=)
c.2894T= (p.Leu965=)
n.2863T=
c.2558T= (p.Leu853=)
c.2969T= (p.Leu990=)
c.*2611T= (n.*2611T=)
n.2994T=
c.26T= (p.Leu9=)
c.425T= (p.Leu142=)
c.2891T= (p.Leu964=)
c.655+4614T= (n.655+4614T=)
c.2822T= (p.Leu941=)
c.2885T= (p.Leu962=)
c.2873T= (p.Leu958=)
2g.144396585A>CCA348705004ZEB2c.*2743T>G (n.*2743T>G)
c.2117T>G (p.Leu706Trp)
c.2894T>G (p.Leu965Trp)
n.2863T>G
c.2558T>G (p.Leu853Trp)
c.2969T>G (p.Leu990Trp)
c.*2611T>G (n.*2611T>G)
n.2994T>G
c.26T>G (p.Leu9Trp)
c.425T>G (p.Leu142Trp)
c.2891T>G (p.Leu964Trp)
c.655+4614T>G (n.655+4614T>G)
c.2822T>G (p.Leu941Trp)
c.2885T>G (p.Leu962Trp)
c.2873T>G (p.Leu958Trp)
2g.144396585A>GCA348705000ZEB2c.*2743T>C (n.*2743T>C)
c.2117T>C (p.Leu706Ser)
c.2894T>C (p.Leu965Ser)
n.2863T>C
c.2558T>C (p.Leu853Ser)
c.2969T>C (p.Leu990Ser)
c.*2611T>C (n.*2611T>C)
n.2994T>C
c.26T>C (p.Leu9Ser)
c.425T>C (p.Leu142Ser)
c.2891T>C (p.Leu964Ser)
c.655+4614T>C (n.655+4614T>C)
c.2822T>C (p.Leu941Ser)
c.2885T>C (p.Leu962Ser)
c.2873T>C (p.Leu958Ser)
2g.144396585A>TCA277142ZEB2c.*2743T>A (n.*2743T>A)
c.2117T>A (p.Leu706Ter)
c.2894T>A (p.Leu965Ter)
n.2863T>A
c.2558T>A (p.Leu853Ter)
c.2969T>A (p.Leu990Ter)
c.*2611T>A (n.*2611T>A)
n.2994T>A
c.26T>A (p.Leu9Ter)
c.425T>A (p.Leu142Ter)
c.2891T>A (p.Leu964Ter)
c.655+4614T>A (n.655+4614T>A)
c.2822T>A (p.Leu941Ter)
c.2885T>A (p.Leu962Ter)
c.2873T>A (p.Leu958Ter)
 ClinVar dbSNP
2g.144396586A>CCA348705009ZEB2c.*2742T>G (n.*2742T>G)
c.2116T>G (p.Leu706Val)
c.2893T>G (p.Leu965Val)
n.2862T>G
c.2557T>G (p.Leu853Val)
c.2968T>G (p.Leu990Val)
c.*2610T>G (n.*2610T>G)
n.2993T>G
c.25T>G (p.Leu9Val)
c.424T>G (p.Leu142Val)
c.2890T>G (p.Leu964Val)
c.655+4613T>G (n.655+4613T>G)
c.2821T>G (p.Leu941Val)
c.2884T>G (p.Leu962Val)
c.2872T>G (p.Leu958Val)
2g.144396586A>GCA429217659ZEB2c.*2742T>C (n.*2742T>C)
c.2116T>C (p.Leu706=)
c.2893T>C (p.Leu965=)
n.2862T>C
c.2557T>C (p.Leu853=)
c.2968T>C (p.Leu990=)
c.*2610T>C (n.*2610T>C)
n.2993T>C
c.25T>C (p.Leu9=)
c.424T>C (p.Leu142=)
c.2890T>C (p.Leu964=)
c.655+4613T>C (n.655+4613T>C)
c.2821T>C (p.Leu941=)
c.2884T>C (p.Leu962=)
c.2872T>C (p.Leu958=)
2g.144396586A>TCA348705015ZEB2c.*2742T>A (n.*2742T>A)
c.2116T>A (p.Leu706Met)
c.2893T>A (p.Leu965Met)
n.2862T>A
c.2557T>A (p.Leu853Met)
c.2968T>A (p.Leu990Met)
c.*2610T>A (n.*2610T>A)
n.2993T>A
c.25T>A (p.Leu9Met)
c.424T>A (p.Leu142Met)
c.2890T>A (p.Leu964Met)
c.655+4613T>A (n.655+4613T>A)
c.2821T>A (p.Leu941Met)
c.2884T>A (p.Leu962Met)
c.2872T>A (p.Leu958Met)
2g.144396587T>ACA348705026ZEB2c.*2741A>T (n.*2741A>T)
c.2115A>T (p.Glu705Asp)
c.2892A>T (p.Glu964Asp)
n.2861A>T
c.2556A>T (p.Glu852Asp)
c.2967A>T (p.Glu989Asp)
c.*2609A>T (n.*2609A>T)
n.2992A>T
c.24A>T (p.Glu8Asp)
c.423A>T (p.Glu141Asp)
c.2889A>T (p.Glu963Asp)
c.655+4612A>T (n.655+4612A>T)
c.2820A>T (p.Glu940Asp)
c.2883A>T (p.Glu961Asp)
c.2871A>T (p.Glu957Asp)
2g.144396587T>CCA429217660ZEB2c.*2741A>G (n.*2741A>G)
c.2115A>G (p.Glu705=)
c.2892A>G (p.Glu964=)
n.2861A>G
c.2556A>G (p.Glu852=)
c.2967A>G (p.Glu989=)
c.*2609A>G (n.*2609A>G)
n.2992A>G
c.24A>G (p.Glu8=)
c.423A>G (p.Glu141=)
c.2889A>G (p.Glu963=)
c.655+4612A>G (n.655+4612A>G)
c.2820A>G (p.Glu940=)
c.2883A>G (p.Glu961=)
c.2871A>G (p.Glu957=)
 dbSNP gnomAD v3 gnomAD v4
2g.144396587T>GCA348705029ZEB2c.*2741A>C (n.*2741A>C)
c.2115A>C (p.Glu705Asp)
c.2892A>C (p.Glu964Asp)
n.2861A>C
c.2556A>C (p.Glu852Asp)
c.2967A>C (p.Glu989Asp)
c.*2609A>C (n.*2609A>C)
n.2992A>C
c.24A>C (p.Glu8Asp)
c.423A>C (p.Glu141Asp)
c.2889A>C (p.Glu963Asp)
c.655+4612A>C (n.655+4612A>C)
c.2820A>C (p.Glu940Asp)
c.2883A>C (p.Glu961Asp)
c.2871A>C (p.Glu957Asp)
2g.144396587T=CA1294884123ZEB2c.*2741A= (n.*2741A=)
c.2115A= (p.Glu705=)
c.2892A= (p.Glu964=)
n.2861A=
c.2556A= (p.Glu852=)
c.2967A= (p.Glu989=)
c.*2609A= (n.*2609A=)
n.2992A=
c.24A= (p.Glu8=)
c.423A= (p.Glu141=)
c.2889A= (p.Glu963=)
c.655+4612A= (n.655+4612A=)
c.2820A= (p.Glu940=)
c.2883A= (p.Glu961=)
c.2871A= (p.Glu957=)
2g.144396588T>ACA348705032ZEB2c.*2740A>T (n.*2740A>T)
c.2114A>T (p.Glu705Val)
c.2891A>T (p.Glu964Val)
n.2860A>T
c.2555A>T (p.Glu852Val)
c.2966A>T (p.Glu989Val)
c.*2608A>T (n.*2608A>T)
n.2991A>T
c.23A>T (p.Glu8Val)
c.422A>T (p.Glu141Val)
c.2888A>T (p.Glu963Val)
c.655+4611A>T (n.655+4611A>T)
c.2819A>T (p.Glu940Val)
c.2882A>T (p.Glu961Val)
c.2870A>T (p.Glu957Val)
2g.144396588T>CCA348705035ZEB2c.*2740A>G (n.*2740A>G)
c.2114A>G (p.Glu705Gly)
c.2891A>G (p.Glu964Gly)
n.2860A>G
c.2555A>G (p.Glu852Gly)
c.2966A>G (p.Glu989Gly)
c.*2608A>G (n.*2608A>G)
n.2991A>G
c.23A>G (p.Glu8Gly)
c.422A>G (p.Glu141Gly)
c.2888A>G (p.Glu963Gly)
c.655+4611A>G (n.655+4611A>G)
c.2819A>G (p.Glu940Gly)
c.2882A>G (p.Glu961Gly)
c.2870A>G (p.Glu957Gly)

Number of alleles fetched