Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.144398631_144398634delinsTGAG | CA1294884967 | ZEB2 | c.*2402_*2405delinsCTCA (n.*2402_*2405delinsCTCA) c.1776_1779delinsCTCA (p.Ser592=) c.2553_2556delinsCTCA (p.Ser851=) n.2522_2525delinsCTCA c.2217_2220delinsCTCA (p.Ser739=) c.2628_2631delinsCTCA (p.Ser876=) c.*2270_*2273delinsCTCA (n.*2270_*2273delinsCTCA) n.2653_2656delinsCTCA c.84_87delinsCTCA (p.Ser28=) c.2550_2553delinsCTCA (p.Ser850=) c.655+2565_655+2568delinsCTCA (n.655+2565_655+2568delinsCTCA) c.1168-706_1168-703delinsCTCA (n.1168-706_1168-703delinsCTCA) c.2481_2484delinsCTCA (p.Ser827=) c.2544_2547delinsCTCA (p.Ser848=) c.2532_2535delinsCTCA (p.Ser844=) | |
2 | g.144398634_144398636del | CA1294884968 | ZEB2 | c.*2402_*2404del (n.*2402_*2404del) c.1776_1778del (p.Ser593del) c.2553_2555del (p.Ser852del) n.2522_2524del c.2217_2219del (p.Ser740del) c.2628_2630del (p.Ser877del) c.*2270_*2272del (n.*2270_*2272del) n.2653_2655del c.84_86del (p.Ser29del) c.2550_2552del (p.Ser851del) c.655+2565_655+2567del (n.655+2565_655+2567del) c.1168-706_1168-704del (n.1168-706_1168-704del) c.2481_2483del (p.Ser828del) c.2544_2546del (p.Ser849del) c.2532_2534del (p.Ser845del) | ClinVar dbSNP |
2 | g.144398634G>A | CA429445649 | ZEB2 | c.*2402C>T (n.*2402C>T) c.1776C>T (p.Ser592=) c.2553C>T (p.Ser851=) n.2522C>T c.2217C>T (p.Ser739=) c.2628C>T (p.Ser876=) c.*2270C>T (n.*2270C>T) n.2653C>T c.84C>T (p.Ser28=) c.2550C>T (p.Ser850=) c.655+2565C>T (n.655+2565C>T) c.1168-706C>T (n.1168-706C>T) c.2481C>T (p.Ser827=) c.2544C>T (p.Ser848=) c.2532C>T (p.Ser844=) | |
2 | g.144398634G>C | CA429445650 | ZEB2 | c.*2402C>G (n.*2402C>G) c.1776C>G (p.Ser592=) c.2553C>G (p.Ser851=) n.2522C>G c.2217C>G (p.Ser739=) c.2628C>G (p.Ser876=) c.*2270C>G (n.*2270C>G) n.2653C>G c.84C>G (p.Ser28=) c.2550C>G (p.Ser850=) c.655+2565C>G (n.655+2565C>G) c.1168-706C>G (n.1168-706C>G) c.2481C>G (p.Ser827=) c.2544C>G (p.Ser848=) c.2532C>G (p.Ser844=) | gnomAD v4 COSMIC |
2 | g.144398634G>T | CA429445651 | ZEB2 | c.*2402C>A (n.*2402C>A) c.1776C>A (p.Ser592=) c.2553C>A (p.Ser851=) n.2522C>A c.2217C>A (p.Ser739=) c.2628C>A (p.Ser876=) c.*2270C>A (n.*2270C>A) n.2653C>A c.84C>A (p.Ser28=) c.2550C>A (p.Ser850=) c.655+2565C>A (n.655+2565C>A) c.1168-706C>A (n.1168-706C>A) c.2481C>A (p.Ser827=) c.2544C>A (p.Ser848=) c.2532C>A (p.Ser844=) | |
2 | g.144398635G>A | CA348708010 | ZEB2 | c.*2401C>T (n.*2401C>T) c.1775C>T (p.Ser592Phe) c.2552C>T (p.Ser851Phe) n.2521C>T c.2216C>T (p.Ser739Phe) c.2627C>T (p.Ser876Phe) c.*2269C>T (n.*2269C>T) n.2652C>T c.83C>T (p.Ser28Phe) c.2549C>T (p.Ser850Phe) c.655+2564C>T (n.655+2564C>T) c.1168-707C>T (n.1168-707C>T) c.2480C>T (p.Ser827Phe) c.2543C>T (p.Ser848Phe) c.2531C>T (p.Ser844Phe) | |
2 | g.144398635G>C | CA348708011 | ZEB2 | c.*2401C>G (n.*2401C>G) c.1775C>G (p.Ser592Cys) c.2552C>G (p.Ser851Cys) n.2521C>G c.2216C>G (p.Ser739Cys) c.2627C>G (p.Ser876Cys) c.*2269C>G (n.*2269C>G) n.2652C>G c.83C>G (p.Ser28Cys) c.2549C>G (p.Ser850Cys) c.655+2564C>G (n.655+2564C>G) c.1168-707C>G (n.1168-707C>G) c.2480C>G (p.Ser827Cys) c.2543C>G (p.Ser848Cys) c.2531C>G (p.Ser844Cys) | |
2 | g.144398635G>T | CA348708013 | ZEB2 | c.*2401C>A (n.*2401C>A) c.1775C>A (p.Ser592Tyr) c.2552C>A (p.Ser851Tyr) n.2521C>A c.2216C>A (p.Ser739Tyr) c.2627C>A (p.Ser876Tyr) c.*2269C>A (n.*2269C>A) n.2652C>A c.83C>A (p.Ser28Tyr) c.2549C>A (p.Ser850Tyr) c.655+2564C>A (n.655+2564C>A) c.1168-707C>A (n.1168-707C>A) c.2480C>A (p.Ser827Tyr) c.2543C>A (p.Ser848Tyr) c.2531C>A (p.Ser844Tyr) | |
2 | g.144398636A>C | CA348708015 | ZEB2 | c.*2400T>G (n.*2400T>G) c.1774T>G (p.Ser592Ala) c.2551T>G (p.Ser851Ala) n.2520T>G c.2215T>G (p.Ser739Ala) c.2626T>G (p.Ser876Ala) c.*2268T>G (n.*2268T>G) n.2651T>G c.82T>G (p.Ser28Ala) c.2548T>G (p.Ser850Ala) c.655+2563T>G (n.655+2563T>G) c.1168-708T>G (n.1168-708T>G) c.2479T>G (p.Ser827Ala) c.2542T>G (p.Ser848Ala) c.2530T>G (p.Ser844Ala) | |
2 | g.144398636A>G | CA348708016 | ZEB2 | c.*2400T>C (n.*2400T>C) c.1774T>C (p.Ser592Pro) c.2551T>C (p.Ser851Pro) n.2520T>C c.2215T>C (p.Ser739Pro) c.2626T>C (p.Ser876Pro) c.*2268T>C (n.*2268T>C) n.2651T>C c.82T>C (p.Ser28Pro) c.2548T>C (p.Ser850Pro) c.655+2563T>C (n.655+2563T>C) c.1168-708T>C (n.1168-708T>C) c.2479T>C (p.Ser827Pro) c.2542T>C (p.Ser848Pro) c.2530T>C (p.Ser844Pro) | |
2 | g.144398636A>T | CA348708018 | ZEB2 | c.*2400T>A (n.*2400T>A) c.1774T>A (p.Ser592Thr) c.2551T>A (p.Ser851Thr) n.2520T>A c.2215T>A (p.Ser739Thr) c.2626T>A (p.Ser876Thr) c.*2268T>A (n.*2268T>A) n.2651T>A c.82T>A (p.Ser28Thr) c.2548T>A (p.Ser850Thr) c.655+2563T>A (n.655+2563T>A) c.1168-708T>A (n.1168-708T>A) c.2479T>A (p.Ser827Thr) c.2542T>A (p.Ser848Thr) c.2530T>A (p.Ser844Thr) | |
2 | g.144398637A>C | CA429445653 | ZEB2 | c.*2399T>G (n.*2399T>G) c.1773T>G (p.Ser591=) c.2550T>G (p.Ser850=) n.2519T>G c.2214T>G (p.Ser738=) c.2625T>G (p.Ser875=) c.*2267T>G (n.*2267T>G) n.2650T>G c.81T>G (p.Ser27=) c.2547T>G (p.Ser849=) c.655+2562T>G (n.655+2562T>G) c.1168-709T>G (n.1168-709T>G) c.2478T>G (p.Ser826=) c.2541T>G (p.Ser847=) c.2529T>G (p.Ser843=) | COSMIC |
2 | g.144398637A>G | CA429445655 | ZEB2 | c.*2399T>C (n.*2399T>C) c.1773T>C (p.Ser591=) c.2550T>C (p.Ser850=) n.2519T>C c.2214T>C (p.Ser738=) c.2625T>C (p.Ser875=) c.*2267T>C (n.*2267T>C) n.2650T>C c.81T>C (p.Ser27=) c.2547T>C (p.Ser849=) c.655+2562T>C (n.655+2562T>C) c.1168-709T>C (n.1168-709T>C) c.2478T>C (p.Ser826=) c.2541T>C (p.Ser847=) c.2529T>C (p.Ser843=) | |
2 | g.144398637A>T | CA429445654 | ZEB2 | c.*2399T>A (n.*2399T>A) c.1773T>A (p.Ser591=) c.2550T>A (p.Ser850=) n.2519T>A c.2214T>A (p.Ser738=) c.2625T>A (p.Ser875=) c.*2267T>A (n.*2267T>A) n.2650T>A c.81T>A (p.Ser27=) c.2547T>A (p.Ser849=) c.655+2562T>A (n.655+2562T>A) c.1168-709T>A (n.1168-709T>A) c.2478T>A (p.Ser826=) c.2541T>A (p.Ser847=) c.2529T>A (p.Ser843=) | |
2 | g.144398638G>A | CA297637 | ZEB2 | c.*2398C>T (n.*2398C>T) c.1772C>T (p.Ser591Phe) c.2549C>T (p.Ser850Phe) n.2518C>T c.2213C>T (p.Ser738Phe) c.2624C>T (p.Ser875Phe) c.*2266C>T (n.*2266C>T) n.2649C>T c.80C>T (p.Ser27Phe) c.2546C>T (p.Ser849Phe) c.655+2561C>T (n.655+2561C>T) c.1168-710C>T (n.1168-710C>T) c.2477C>T (p.Ser826Phe) c.2540C>T (p.Ser847Phe) c.2528C>T (p.Ser843Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.144398638G>C | CA348708021 | ZEB2 | c.*2398C>G (n.*2398C>G) c.1772C>G (p.Ser591Cys) c.2549C>G (p.Ser850Cys) n.2518C>G c.2213C>G (p.Ser738Cys) c.2624C>G (p.Ser875Cys) c.*2266C>G (n.*2266C>G) n.2649C>G c.80C>G (p.Ser27Cys) c.2546C>G (p.Ser849Cys) c.655+2561C>G (n.655+2561C>G) c.1168-710C>G (n.1168-710C>G) c.2477C>G (p.Ser826Cys) c.2540C>G (p.Ser847Cys) c.2528C>G (p.Ser843Cys) | |
2 | g.144398638G= | CA1294884970 | ZEB2 | c.*2398C= (n.*2398C=) c.1772C= (p.Ser591=) c.2549C= (p.Ser850=) n.2518C= c.2213C= (p.Ser738=) c.2624C= (p.Ser875=) c.*2266C= (n.*2266C=) n.2649C= c.80C= (p.Ser27=) c.2546C= (p.Ser849=) c.655+2561C= (n.655+2561C=) c.1168-710C= (n.1168-710C=) c.2477C= (p.Ser826=) c.2540C= (p.Ser847=) c.2528C= (p.Ser843=) | |
2 | g.144398638G>T | CA1898232 | ZEB2 | c.*2398C>A (n.*2398C>A) c.1772C>A (p.Ser591Tyr) c.2549C>A (p.Ser850Tyr) n.2518C>A c.2213C>A (p.Ser738Tyr) c.2624C>A (p.Ser875Tyr) c.*2266C>A (n.*2266C>A) n.2649C>A c.80C>A (p.Ser27Tyr) c.2546C>A (p.Ser849Tyr) c.655+2561C>A (n.655+2561C>A) c.1168-710C>A (n.1168-710C>A) c.2477C>A (p.Ser826Tyr) c.2540C>A (p.Ser847Tyr) c.2528C>A (p.Ser843Tyr) | ClinVar dbSNP ExAC gnomAD v4 |
2 | g.144398639A= | CA1294884971 | ZEB2 | c.*2397T= (n.*2397T=) c.1771T= (p.Ser591=) c.2548T= (p.Ser850=) n.2517T= c.2212T= (p.Ser738=) c.2623T= (p.Ser875=) c.*2265T= (n.*2265T=) n.2648T= c.79T= (p.Ser27=) c.2545T= (p.Ser849=) c.655+2560T= (n.655+2560T=) c.1168-711T= (n.1168-711T=) c.2476T= (p.Ser826=) c.2539T= (p.Ser847=) c.2527T= (p.Ser843=) | |
2 | g.144398639A>C | CA348708025 | ZEB2 | c.*2397T>G (n.*2397T>G) c.1771T>G (p.Ser591Ala) c.2548T>G (p.Ser850Ala) n.2517T>G c.2212T>G (p.Ser738Ala) c.2623T>G (p.Ser875Ala) c.*2265T>G (n.*2265T>G) n.2648T>G c.79T>G (p.Ser27Ala) c.2545T>G (p.Ser849Ala) c.655+2560T>G (n.655+2560T>G) c.1168-711T>G (n.1168-711T>G) c.2476T>G (p.Ser826Ala) c.2539T>G (p.Ser847Ala) c.2527T>G (p.Ser843Ala) | |
2 | g.144398639A>G | CA1898233 | ZEB2 | c.*2397T>C (n.*2397T>C) c.1771T>C (p.Ser591Pro) c.2548T>C (p.Ser850Pro) n.2517T>C c.2212T>C (p.Ser738Pro) c.2623T>C (p.Ser875Pro) c.*2265T>C (n.*2265T>C) n.2648T>C c.79T>C (p.Ser27Pro) c.2545T>C (p.Ser849Pro) c.655+2560T>C (n.655+2560T>C) c.1168-711T>C (n.1168-711T>C) c.2476T>C (p.Ser826Pro) c.2539T>C (p.Ser847Pro) c.2527T>C (p.Ser843Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.144398639A>T | CA348708027 | ZEB2 | c.*2397T>A (n.*2397T>A) c.1771T>A (p.Ser591Thr) c.2548T>A (p.Ser850Thr) n.2517T>A c.2212T>A (p.Ser738Thr) c.2623T>A (p.Ser875Thr) c.*2265T>A (n.*2265T>A) n.2648T>A c.79T>A (p.Ser27Thr) c.2545T>A (p.Ser849Thr) c.655+2560T>A (n.655+2560T>A) c.1168-711T>A (n.1168-711T>A) c.2476T>A (p.Ser826Thr) c.2539T>A (p.Ser847Thr) c.2527T>A (p.Ser843Thr) | |
2 | g.144398640A= | CA1294884972 | ZEB2 | c.*2396T= (n.*2396T=) c.1770T= (p.Val590=) c.2547T= (p.Val849=) n.2516T= c.2211T= (p.Val737=) c.2622T= (p.Val874=) c.*2264T= (n.*2264T=) n.2647T= c.78T= (p.Val26=) c.2544T= (p.Val848=) c.655+2559T= (n.655+2559T=) c.1168-712T= (n.1168-712T=) c.2475T= (p.Val825=) c.2538T= (p.Val846=) c.2526T= (p.Val842=) | |
2 | g.144398640A>C | CA429445657 | ZEB2 | c.*2396T>G (n.*2396T>G) c.1770T>G (p.Val590=) c.2547T>G (p.Val849=) n.2516T>G c.2211T>G (p.Val737=) c.2622T>G (p.Val874=) c.*2264T>G (n.*2264T>G) n.2647T>G c.78T>G (p.Val26=) c.2544T>G (p.Val848=) c.655+2559T>G (n.655+2559T>G) c.1168-712T>G (n.1168-712T>G) c.2475T>G (p.Val825=) c.2538T>G (p.Val846=) c.2526T>G (p.Val842=) | ClinVar dbSNP gnomAD v4 |
2 | g.144398640A>G | CA57554976 | ZEB2 | c.*2396T>C (n.*2396T>C) c.1770T>C (p.Val590=) c.2547T>C (p.Val849=) n.2516T>C c.2211T>C (p.Val737=) c.2622T>C (p.Val874=) c.*2264T>C (n.*2264T>C) n.2647T>C c.78T>C (p.Val26=) c.2544T>C (p.Val848=) c.655+2559T>C (n.655+2559T>C) c.1168-712T>C (n.1168-712T>C) c.2475T>C (p.Val825=) c.2538T>C (p.Val846=) c.2526T>C (p.Val842=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.144398640A>T | CA429445658 | ZEB2 | c.*2396T>A (n.*2396T>A) c.1770T>A (p.Val590=) c.2547T>A (p.Val849=) n.2516T>A c.2211T>A (p.Val737=) c.2622T>A (p.Val874=) c.*2264T>A (n.*2264T>A) n.2647T>A c.78T>A (p.Val26=) c.2544T>A (p.Val848=) c.655+2559T>A (n.655+2559T>A) c.1168-712T>A (n.1168-712T>A) c.2475T>A (p.Val825=) c.2538T>A (p.Val846=) c.2526T>A (p.Val842=) | |
2 | g.144398641A>C | CA348708029 | ZEB2 | c.*2395T>G (n.*2395T>G) c.1769T>G (p.Val590Gly) c.2546T>G (p.Val849Gly) n.2515T>G c.2210T>G (p.Val737Gly) c.2621T>G (p.Val874Gly) c.*2263T>G (n.*2263T>G) n.2646T>G c.77T>G (p.Val26Gly) c.2543T>G (p.Val848Gly) c.655+2558T>G (n.655+2558T>G) c.1168-713T>G (n.1168-713T>G) c.2474T>G (p.Val825Gly) c.2537T>G (p.Val846Gly) c.2525T>G (p.Val842Gly) | |
2 | g.144398641A>G | CA348708031 | ZEB2 | c.*2395T>C (n.*2395T>C) c.1769T>C (p.Val590Ala) c.2546T>C (p.Val849Ala) n.2515T>C c.2210T>C (p.Val737Ala) c.2621T>C (p.Val874Ala) c.*2263T>C (n.*2263T>C) n.2646T>C c.77T>C (p.Val26Ala) c.2543T>C (p.Val848Ala) c.655+2558T>C (n.655+2558T>C) c.1168-713T>C (n.1168-713T>C) c.2474T>C (p.Val825Ala) c.2537T>C (p.Val846Ala) c.2525T>C (p.Val842Ala) | |
2 | g.144398641A>T | CA348708033 | ZEB2 | c.*2395T>A (n.*2395T>A) c.1769T>A (p.Val590Asp) c.2546T>A (p.Val849Asp) n.2515T>A c.2210T>A (p.Val737Asp) c.2621T>A (p.Val874Asp) c.*2263T>A (n.*2263T>A) n.2646T>A c.77T>A (p.Val26Asp) c.2543T>A (p.Val848Asp) c.655+2558T>A (n.655+2558T>A) c.1168-713T>A (n.1168-713T>A) c.2474T>A (p.Val825Asp) c.2537T>A (p.Val846Asp) c.2525T>A (p.Val842Asp) | |
2 | g.144398642C>A | CA348708035 | ZEB2 | c.*2394G>T (n.*2394G>T) c.1768G>T (p.Val590Phe) c.2545G>T (p.Val849Phe) n.2514G>T c.2209G>T (p.Val737Phe) c.2620G>T (p.Val874Phe) c.*2262G>T (n.*2262G>T) n.2645G>T c.76G>T (p.Val26Phe) c.2542G>T (p.Val848Phe) c.655+2557G>T (n.655+2557G>T) c.1168-714G>T (n.1168-714G>T) c.2473G>T (p.Val825Phe) c.2536G>T (p.Val846Phe) c.2524G>T (p.Val842Phe) | |
2 | g.144398642C= | CA1294884973 | ZEB2 | c.*2394G= (n.*2394G=) c.1768G= (p.Val590=) c.2545G= (p.Val849=) n.2514G= c.2209G= (p.Val737=) c.2620G= (p.Val874=) c.*2262G= (n.*2262G=) n.2645G= c.76G= (p.Val26=) c.2542G= (p.Val848=) c.655+2557G= (n.655+2557G=) c.1168-714G= (n.1168-714G=) c.2473G= (p.Val825=) c.2536G= (p.Val846=) c.2524G= (p.Val842=) | |
2 | g.144398642C>G | CA348708036 | ZEB2 | c.*2394G>C (n.*2394G>C) c.1768G>C (p.Val590Leu) c.2545G>C (p.Val849Leu) n.2514G>C c.2209G>C (p.Val737Leu) c.2620G>C (p.Val874Leu) c.*2262G>C (n.*2262G>C) n.2645G>C c.76G>C (p.Val26Leu) c.2542G>C (p.Val848Leu) c.655+2557G>C (n.655+2557G>C) c.1168-714G>C (n.1168-714G>C) c.2473G>C (p.Val825Leu) c.2536G>C (p.Val846Leu) c.2524G>C (p.Val842Leu) | |
2 | g.144398642C>T | CA348708037 | ZEB2 | c.*2394G>A (n.*2394G>A) c.1768G>A (p.Val590Ile) c.2545G>A (p.Val849Ile) n.2514G>A c.2209G>A (p.Val737Ile) c.2620G>A (p.Val874Ile) c.*2262G>A (n.*2262G>A) n.2645G>A c.76G>A (p.Val26Ile) c.2542G>A (p.Val848Ile) c.655+2557G>A (n.655+2557G>A) c.1168-714G>A (n.1168-714G>A) c.2473G>A (p.Val825Ile) c.2536G>A (p.Val846Ile) c.2524G>A (p.Val842Ile) | ClinVar dbSNP gnomAD v4 |
2 | g.144398643A>C | CA348708039 | ZEB2 | c.*2393T>G (n.*2393T>G) c.1767T>G (p.Ser589Arg) c.2544T>G (p.Ser848Arg) n.2513T>G c.2208T>G (p.Ser736Arg) c.2619T>G (p.Ser873Arg) c.*2261T>G (n.*2261T>G) n.2644T>G c.75T>G (p.Ser25Arg) c.2541T>G (p.Ser847Arg) c.655+2556T>G (n.655+2556T>G) c.1168-715T>G (n.1168-715T>G) c.2472T>G (p.Ser824Arg) c.2535T>G (p.Ser845Arg) c.2523T>G (p.Ser841Arg) | |
2 | g.144398643A>G | CA429445660 | ZEB2 | c.*2393T>C (n.*2393T>C) c.1767T>C (p.Ser589=) c.2544T>C (p.Ser848=) n.2513T>C c.2208T>C (p.Ser736=) c.2619T>C (p.Ser873=) c.*2261T>C (n.*2261T>C) n.2644T>C c.75T>C (p.Ser25=) c.2541T>C (p.Ser847=) c.655+2556T>C (n.655+2556T>C) c.1168-715T>C (n.1168-715T>C) c.2472T>C (p.Ser824=) c.2535T>C (p.Ser845=) c.2523T>C (p.Ser841=) | |
2 | g.144398643A>T | CA348708038 | ZEB2 | c.*2393T>A (n.*2393T>A) c.1767T>A (p.Ser589Arg) c.2544T>A (p.Ser848Arg) n.2513T>A c.2208T>A (p.Ser736Arg) c.2619T>A (p.Ser873Arg) c.*2261T>A (n.*2261T>A) n.2644T>A c.75T>A (p.Ser25Arg) c.2541T>A (p.Ser847Arg) c.655+2556T>A (n.655+2556T>A) c.1168-715T>A (n.1168-715T>A) c.2472T>A (p.Ser824Arg) c.2535T>A (p.Ser845Arg) c.2523T>A (p.Ser841Arg) | |
2 | g.144398644C>A | CA348708040 | ZEB2 | c.*2392G>T (n.*2392G>T) c.1766G>T (p.Ser589Ile) c.2543G>T (p.Ser848Ile) n.2512G>T c.2207G>T (p.Ser736Ile) c.2618G>T (p.Ser873Ile) c.*2260G>T (n.*2260G>T) n.2643G>T c.74G>T (p.Ser25Ile) c.2540G>T (p.Ser847Ile) c.655+2555G>T (n.655+2555G>T) c.1168-716G>T (n.1168-716G>T) c.2471G>T (p.Ser824Ile) c.2534G>T (p.Ser845Ile) c.2522G>T (p.Ser841Ile) | ClinVar dbSNP |
2 | g.144398644C= | CA1294884974 | ZEB2 | c.*2392G= (n.*2392G=) c.1766G= (p.Ser589=) c.2543G= (p.Ser848=) n.2512G= c.2207G= (p.Ser736=) c.2618G= (p.Ser873=) c.*2260G= (n.*2260G=) n.2643G= c.74G= (p.Ser25=) c.2540G= (p.Ser847=) c.655+2555G= (n.655+2555G=) c.1168-716G= (n.1168-716G=) c.2471G= (p.Ser824=) c.2534G= (p.Ser845=) c.2522G= (p.Ser841=) | |
2 | g.144398644C>G | CA348708041 | ZEB2 | c.*2392G>C (n.*2392G>C) c.1766G>C (p.Ser589Thr) c.2543G>C (p.Ser848Thr) n.2512G>C c.2207G>C (p.Ser736Thr) c.2618G>C (p.Ser873Thr) c.*2260G>C (n.*2260G>C) n.2643G>C c.74G>C (p.Ser25Thr) c.2540G>C (p.Ser847Thr) c.655+2555G>C (n.655+2555G>C) c.1168-716G>C (n.1168-716G>C) c.2471G>C (p.Ser824Thr) c.2534G>C (p.Ser845Thr) c.2522G>C (p.Ser841Thr) | |
2 | g.144398644C>T | CA348708042 | ZEB2 | c.*2392G>A (n.*2392G>A) c.1766G>A (p.Ser589Asn) c.2543G>A (p.Ser848Asn) n.2512G>A c.2207G>A (p.Ser736Asn) c.2618G>A (p.Ser873Asn) c.*2260G>A (n.*2260G>A) n.2643G>A c.74G>A (p.Ser25Asn) c.2540G>A (p.Ser847Asn) c.655+2555G>A (n.655+2555G>A) c.1168-716G>A (n.1168-716G>A) c.2471G>A (p.Ser824Asn) c.2534G>A (p.Ser845Asn) c.2522G>A (p.Ser841Asn) | ClinVar dbSNP gnomAD v4 |
2 | g.144398645T>A | CA348708043 | ZEB2 | c.*2391A>T (n.*2391A>T) c.1765A>T (p.Ser589Cys) c.2542A>T (p.Ser848Cys) n.2511A>T c.2206A>T (p.Ser736Cys) c.2617A>T (p.Ser873Cys) c.*2259A>T (n.*2259A>T) n.2642A>T c.73A>T (p.Ser25Cys) c.2539A>T (p.Ser847Cys) c.655+2554A>T (n.655+2554A>T) c.1168-717A>T (n.1168-717A>T) c.2470A>T (p.Ser824Cys) c.2533A>T (p.Ser845Cys) c.2521A>T (p.Ser841Cys) | |
2 | g.144398645T>C | CA348708044 | ZEB2 | c.*2391A>G (n.*2391A>G) c.1765A>G (p.Ser589Gly) c.2542A>G (p.Ser848Gly) n.2511A>G c.2206A>G (p.Ser736Gly) c.2617A>G (p.Ser873Gly) c.*2259A>G (n.*2259A>G) n.2642A>G c.73A>G (p.Ser25Gly) c.2539A>G (p.Ser847Gly) c.655+2554A>G (n.655+2554A>G) c.1168-717A>G (n.1168-717A>G) c.2470A>G (p.Ser824Gly) c.2533A>G (p.Ser845Gly) c.2521A>G (p.Ser841Gly) | |
2 | g.144398645T>G | CA348708045 | ZEB2 | c.*2391A>C (n.*2391A>C) c.1765A>C (p.Ser589Arg) c.2542A>C (p.Ser848Arg) n.2511A>C c.2206A>C (p.Ser736Arg) c.2617A>C (p.Ser873Arg) c.*2259A>C (n.*2259A>C) n.2642A>C c.73A>C (p.Ser25Arg) c.2539A>C (p.Ser847Arg) c.655+2554A>C (n.655+2554A>C) c.1168-717A>C (n.1168-717A>C) c.2470A>C (p.Ser824Arg) c.2533A>C (p.Ser845Arg) c.2521A>C (p.Ser841Arg) | gnomAD v4 |
2 | g.144398646G>A | CA1898235 | ZEB2 | c.*2390C>T (n.*2390C>T) c.1764C>T (p.Asn588=) c.2541C>T (p.Asn847=) n.2510C>T c.2205C>T (p.Asn735=) c.2616C>T (p.Asn872=) c.*2258C>T (n.*2258C>T) n.2641C>T c.72C>T (p.Asn24=) c.2538C>T (p.Asn846=) c.655+2553C>T (n.655+2553C>T) c.1168-718C>T (n.1168-718C>T) c.2469C>T (p.Asn823=) c.2532C>T (p.Asn844=) c.2520C>T (p.Asn840=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.144398646G>C | CA348708046 | ZEB2 | c.*2390C>G (n.*2390C>G) c.1764C>G (p.Asn588Lys) c.2541C>G (p.Asn847Lys) n.2510C>G c.2205C>G (p.Asn735Lys) c.2616C>G (p.Asn872Lys) c.*2258C>G (n.*2258C>G) n.2641C>G c.72C>G (p.Asn24Lys) c.2538C>G (p.Asn846Lys) c.655+2553C>G (n.655+2553C>G) c.1168-718C>G (n.1168-718C>G) c.2469C>G (p.Asn823Lys) c.2532C>G (p.Asn844Lys) c.2520C>G (p.Asn840Lys) | gnomAD v4 |
2 | g.144398646G= | CA1294884975 | ZEB2 | c.*2390C= (n.*2390C=) c.1764C= (p.Asn588=) c.2541C= (p.Asn847=) n.2510C= c.2205C= (p.Asn735=) c.2616C= (p.Asn872=) c.*2258C= (n.*2258C=) n.2641C= c.72C= (p.Asn24=) c.2538C= (p.Asn846=) c.655+2553C= (n.655+2553C=) c.1168-718C= (n.1168-718C=) c.2469C= (p.Asn823=) c.2532C= (p.Asn844=) c.2520C= (p.Asn840=) | |
2 | g.144398646G>T | CA1898234 | ZEB2 | c.*2390C>A (n.*2390C>A) c.1764C>A (p.Asn588Lys) c.2541C>A (p.Asn847Lys) n.2510C>A c.2205C>A (p.Asn735Lys) c.2616C>A (p.Asn872Lys) c.*2258C>A (n.*2258C>A) n.2641C>A c.72C>A (p.Asn24Lys) c.2538C>A (p.Asn846Lys) c.655+2553C>A (n.655+2553C>A) c.1168-718C>A (n.1168-718C>A) c.2469C>A (p.Asn823Lys) c.2532C>A (p.Asn844Lys) c.2520C>A (p.Asn840Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.144398647T>A | CA348708047 | ZEB2 | c.*2389A>T (n.*2389A>T) c.1763A>T (p.Asn588Ile) c.2540A>T (p.Asn847Ile) n.2509A>T c.2204A>T (p.Asn735Ile) c.2615A>T (p.Asn872Ile) c.*2257A>T (n.*2257A>T) n.2640A>T c.71A>T (p.Asn24Ile) c.2537A>T (p.Asn846Ile) c.655+2552A>T (n.655+2552A>T) c.1168-719A>T (n.1168-719A>T) c.2468A>T (p.Asn823Ile) c.2531A>T (p.Asn844Ile) c.2519A>T (p.Asn840Ile) | |
2 | g.144398647T>C | CA348708048 | ZEB2 | c.*2389A>G (n.*2389A>G) c.1763A>G (p.Asn588Ser) c.2540A>G (p.Asn847Ser) n.2509A>G c.2204A>G (p.Asn735Ser) c.2615A>G (p.Asn872Ser) c.*2257A>G (n.*2257A>G) n.2640A>G c.71A>G (p.Asn24Ser) c.2537A>G (p.Asn846Ser) c.655+2552A>G (n.655+2552A>G) c.1168-719A>G (n.1168-719A>G) c.2468A>G (p.Asn823Ser) c.2531A>G (p.Asn844Ser) c.2519A>G (p.Asn840Ser) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.144398647T>G | CA348708049 | ZEB2 | c.*2389A>C (n.*2389A>C) c.1763A>C (p.Asn588Thr) c.2540A>C (p.Asn847Thr) n.2509A>C c.2204A>C (p.Asn735Thr) c.2615A>C (p.Asn872Thr) c.*2257A>C (n.*2257A>C) n.2640A>C c.71A>C (p.Asn24Thr) c.2537A>C (p.Asn846Thr) c.655+2552A>C (n.655+2552A>C) c.1168-719A>C (n.1168-719A>C) c.2468A>C (p.Asn823Thr) c.2531A>C (p.Asn844Thr) c.2519A>C (p.Asn840Thr) | COSMIC |
2 | g.144398647T= | CA1294884976 | ZEB2 | c.*2389A= (n.*2389A=) c.1763A= (p.Asn588=) c.2540A= (p.Asn847=) n.2509A= c.2204A= (p.Asn735=) c.2615A= (p.Asn872=) c.*2257A= (n.*2257A=) n.2640A= c.71A= (p.Asn24=) c.2537A= (p.Asn846=) c.655+2552A= (n.655+2552A=) c.1168-719A= (n.1168-719A=) c.2468A= (p.Asn823=) c.2531A= (p.Asn844=) c.2519A= (p.Asn840=) | |
2 | g.144398648T>A | CA348708052 | ZEB2 | c.*2388A>T (n.*2388A>T) c.1762A>T (p.Asn588Tyr) c.2539A>T (p.Asn847Tyr) n.2508A>T c.2203A>T (p.Asn735Tyr) c.2614A>T (p.Asn872Tyr) c.*2256A>T (n.*2256A>T) n.2639A>T c.70A>T (p.Asn24Tyr) c.2536A>T (p.Asn846Tyr) c.655+2551A>T (n.655+2551A>T) c.1168-720A>T (n.1168-720A>T) c.2467A>T (p.Asn823Tyr) c.2530A>T (p.Asn844Tyr) c.2518A>T (p.Asn840Tyr) | |
2 | g.144398648T>C | CA348708051 | ZEB2 | c.*2388A>G (n.*2388A>G) c.1762A>G (p.Asn588Asp) c.2539A>G (p.Asn847Asp) n.2508A>G c.2203A>G (p.Asn735Asp) c.2614A>G (p.Asn872Asp) c.*2256A>G (n.*2256A>G) n.2639A>G c.70A>G (p.Asn24Asp) c.2536A>G (p.Asn846Asp) c.655+2551A>G (n.655+2551A>G) c.1168-720A>G (n.1168-720A>G) c.2467A>G (p.Asn823Asp) c.2530A>G (p.Asn844Asp) c.2518A>G (p.Asn840Asp) | |
2 | g.144398648T>G | CA348708050 | ZEB2 | c.*2388A>C (n.*2388A>C) c.1762A>C (p.Asn588His) c.2539A>C (p.Asn847His) n.2508A>C c.2203A>C (p.Asn735His) c.2614A>C (p.Asn872His) c.*2256A>C (n.*2256A>C) n.2639A>C c.70A>C (p.Asn24His) c.2536A>C (p.Asn846His) c.655+2551A>C (n.655+2551A>C) c.1168-720A>C (n.1168-720A>C) c.2467A>C (p.Asn823His) c.2530A>C (p.Asn844His) c.2518A>C (p.Asn840His) | ClinVar gnomAD v4 |
2 | g.144398649A= | CA1294884977 | ZEB2 | c.*2387T= (n.*2387T=) c.1761T= (p.His587=) c.2538T= (p.His846=) n.2507T= c.2202T= (p.His734=) c.2613T= (p.His871=) c.*2255T= (n.*2255T=) n.2638T= c.69T= (p.His23=) c.2535T= (p.His845=) c.655+2550T= (n.655+2550T=) c.1168-721T= (n.1168-721T=) c.2466T= (p.His822=) c.2529T= (p.His843=) c.2517T= (p.His839=) | |
2 | g.144398649A>C | CA348708053 | ZEB2 | c.*2387T>G (n.*2387T>G) c.1761T>G (p.His587Gln) c.2538T>G (p.His846Gln) n.2507T>G c.2202T>G (p.His734Gln) c.2613T>G (p.His871Gln) c.*2255T>G (n.*2255T>G) n.2638T>G c.69T>G (p.His23Gln) c.2535T>G (p.His845Gln) c.655+2550T>G (n.655+2550T>G) c.1168-721T>G (n.1168-721T>G) c.2466T>G (p.His822Gln) c.2529T>G (p.His843Gln) c.2517T>G (p.His839Gln) | |
2 | g.144398649A>G | CA429445664 | ZEB2 | c.*2387T>C (n.*2387T>C) c.1761T>C (p.His587=) c.2538T>C (p.His846=) n.2507T>C c.2202T>C (p.His734=) c.2613T>C (p.His871=) c.*2255T>C (n.*2255T>C) n.2638T>C c.69T>C (p.His23=) c.2535T>C (p.His845=) c.655+2550T>C (n.655+2550T>C) c.1168-721T>C (n.1168-721T>C) c.2466T>C (p.His822=) c.2529T>C (p.His843=) c.2517T>C (p.His839=) | ClinVar gnomAD v4 |
2 | g.144398649A>T | CA1898236 | ZEB2 | c.*2387T>A (n.*2387T>A) c.1761T>A (p.His587Gln) c.2538T>A (p.His846Gln) n.2507T>A c.2202T>A (p.His734Gln) c.2613T>A (p.His871Gln) c.*2255T>A (n.*2255T>A) n.2638T>A c.69T>A (p.His23Gln) c.2535T>A (p.His845Gln) c.655+2550T>A (n.655+2550T>A) c.1168-721T>A (n.1168-721T>A) c.2466T>A (p.His822Gln) c.2529T>A (p.His843Gln) c.2517T>A (p.His839Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.144398650T>A | CA348708054 | ZEB2 | c.*2386A>T (n.*2386A>T) c.1760A>T (p.His587Leu) c.2537A>T (p.His846Leu) n.2506A>T c.2201A>T (p.His734Leu) c.2612A>T (p.His871Leu) c.*2254A>T (n.*2254A>T) n.2637A>T c.68A>T (p.His23Leu) c.2534A>T (p.His845Leu) c.655+2549A>T (n.655+2549A>T) c.1168-722A>T (n.1168-722A>T) c.2465A>T (p.His822Leu) c.2528A>T (p.His843Leu) c.2516A>T (p.His839Leu) | |
2 | g.144398650T>C | CA348708055 | ZEB2 | c.*2386A>G (n.*2386A>G) c.1760A>G (p.His587Arg) c.2537A>G (p.His846Arg) n.2506A>G c.2201A>G (p.His734Arg) c.2612A>G (p.His871Arg) c.*2254A>G (n.*2254A>G) n.2637A>G c.68A>G (p.His23Arg) c.2534A>G (p.His845Arg) c.655+2549A>G (n.655+2549A>G) c.1168-722A>G (n.1168-722A>G) c.2465A>G (p.His822Arg) c.2528A>G (p.His843Arg) c.2516A>G (p.His839Arg) | ClinVar |
2 | g.144398650T>G | CA348708056 | ZEB2 | c.*2386A>C (n.*2386A>C) c.1760A>C (p.His587Pro) c.2537A>C (p.His846Pro) n.2506A>C c.2201A>C (p.His734Pro) c.2612A>C (p.His871Pro) c.*2254A>C (n.*2254A>C) n.2637A>C c.68A>C (p.His23Pro) c.2534A>C (p.His845Pro) c.655+2549A>C (n.655+2549A>C) c.1168-722A>C (n.1168-722A>C) c.2465A>C (p.His822Pro) c.2528A>C (p.His843Pro) c.2516A>C (p.His839Pro) | |
2 | g.144398651G>A | CA348708057 | ZEB2 | c.*2385C>T (n.*2385C>T) c.1759C>T (p.His587Tyr) c.2536C>T (p.His846Tyr) n.2505C>T c.2200C>T (p.His734Tyr) c.2611C>T (p.His871Tyr) c.*2253C>T (n.*2253C>T) n.2636C>T c.67C>T (p.His23Tyr) c.2533C>T (p.His845Tyr) c.655+2548C>T (n.655+2548C>T) c.1168-723C>T (n.1168-723C>T) c.2464C>T (p.His822Tyr) c.2527C>T (p.His843Tyr) c.2515C>T (p.His839Tyr) | |
2 | g.144398651G>C | CA348708058 | ZEB2 | c.*2385C>G (n.*2385C>G) c.1759C>G (p.His587Asp) c.2536C>G (p.His846Asp) n.2505C>G c.2200C>G (p.His734Asp) c.2611C>G (p.His871Asp) c.*2253C>G (n.*2253C>G) n.2636C>G c.67C>G (p.His23Asp) c.2533C>G (p.His845Asp) c.655+2548C>G (n.655+2548C>G) c.1168-723C>G (n.1168-723C>G) c.2464C>G (p.His822Asp) c.2527C>G (p.His843Asp) c.2515C>G (p.His839Asp) | |
2 | g.144398651G>T | CA348708059 | ZEB2 | c.*2385C>A (n.*2385C>A) c.1759C>A (p.His587Asn) c.2536C>A (p.His846Asn) n.2505C>A c.2200C>A (p.His734Asn) c.2611C>A (p.His871Asn) c.*2253C>A (n.*2253C>A) n.2636C>A c.67C>A (p.His23Asn) c.2533C>A (p.His845Asn) c.655+2548C>A (n.655+2548C>A) c.1168-723C>A (n.1168-723C>A) c.2464C>A (p.His822Asn) c.2527C>A (p.His843Asn) c.2515C>A (p.His839Asn) | COSMIC |
2 | g.144398652A>C | CA348708060 | ZEB2 | c.*2384T>G (n.*2384T>G) c.1758T>G (p.Asp586Glu) c.2535T>G (p.Asp845Glu) n.2504T>G c.2199T>G (p.Asp733Glu) c.2610T>G (p.Asp870Glu) c.*2252T>G (n.*2252T>G) n.2635T>G c.66T>G (p.Asp22Glu) c.2532T>G (p.Asp844Glu) c.655+2547T>G (n.655+2547T>G) c.1168-724T>G (n.1168-724T>G) c.2463T>G (p.Asp821Glu) c.2526T>G (p.Asp842Glu) c.2514T>G (p.Asp838Glu) | |
2 | g.144398652A>G | CA429445668 | ZEB2 | c.*2384T>C (n.*2384T>C) c.1758T>C (p.Asp586=) c.2535T>C (p.Asp845=) n.2504T>C c.2199T>C (p.Asp733=) c.2610T>C (p.Asp870=) c.*2252T>C (n.*2252T>C) n.2635T>C c.66T>C (p.Asp22=) c.2532T>C (p.Asp844=) c.655+2547T>C (n.655+2547T>C) c.1168-724T>C (n.1168-724T>C) c.2463T>C (p.Asp821=) c.2526T>C (p.Asp842=) c.2514T>C (p.Asp838=) | |
2 | g.144398652A>T | CA348708061 | ZEB2 | c.*2384T>A (n.*2384T>A) c.1758T>A (p.Asp586Glu) c.2535T>A (p.Asp845Glu) n.2504T>A c.2199T>A (p.Asp733Glu) c.2610T>A (p.Asp870Glu) c.*2252T>A (n.*2252T>A) n.2635T>A c.66T>A (p.Asp22Glu) c.2532T>A (p.Asp844Glu) c.655+2547T>A (n.655+2547T>A) c.1168-724T>A (n.1168-724T>A) c.2463T>A (p.Asp821Glu) c.2526T>A (p.Asp842Glu) c.2514T>A (p.Asp838Glu) | |
2 | g.144398653T>A | CA348708062 | ZEB2 | c.*2383A>T (n.*2383A>T) c.1757A>T (p.Asp586Val) c.2534A>T (p.Asp845Val) n.2503A>T c.2198A>T (p.Asp733Val) c.2609A>T (p.Asp870Val) c.*2251A>T (n.*2251A>T) n.2634A>T c.65A>T (p.Asp22Val) c.2531A>T (p.Asp844Val) c.655+2546A>T (n.655+2546A>T) c.1168-725A>T (n.1168-725A>T) c.2462A>T (p.Asp821Val) c.2525A>T (p.Asp842Val) c.2513A>T (p.Asp838Val) | |
2 | g.144398653T>C | CA348708063 | ZEB2 | c.*2383A>G (n.*2383A>G) c.1757A>G (p.Asp586Gly) c.2534A>G (p.Asp845Gly) n.2503A>G c.2198A>G (p.Asp733Gly) c.2609A>G (p.Asp870Gly) c.*2251A>G (n.*2251A>G) n.2634A>G c.65A>G (p.Asp22Gly) c.2531A>G (p.Asp844Gly) c.655+2546A>G (n.655+2546A>G) c.1168-725A>G (n.1168-725A>G) c.2462A>G (p.Asp821Gly) c.2525A>G (p.Asp842Gly) c.2513A>G (p.Asp838Gly) | |
2 | g.144398653T>G | CA57554997 | ZEB2 | c.*2383A>C (n.*2383A>C) c.1757A>C (p.Asp586Ala) c.2534A>C (p.Asp845Ala) n.2503A>C c.2198A>C (p.Asp733Ala) c.2609A>C (p.Asp870Ala) c.*2251A>C (n.*2251A>C) n.2634A>C c.65A>C (p.Asp22Ala) c.2531A>C (p.Asp844Ala) c.655+2546A>C (n.655+2546A>C) c.1168-725A>C (n.1168-725A>C) c.2462A>C (p.Asp821Ala) c.2525A>C (p.Asp842Ala) c.2513A>C (p.Asp838Ala) | dbSNP gnomAD v4 |
2 | g.144398653T= | CA1294884978 | ZEB2 | c.*2383A= (n.*2383A=) c.1757A= (p.Asp586=) c.2534A= (p.Asp845=) n.2503A= c.2198A= (p.Asp733=) c.2609A= (p.Asp870=) c.*2251A= (n.*2251A=) n.2634A= c.65A= (p.Asp22=) c.2531A= (p.Asp844=) c.655+2546A= (n.655+2546A=) c.1168-725A= (n.1168-725A=) c.2462A= (p.Asp821=) c.2525A= (p.Asp842=) c.2513A= (p.Asp838=) | |
2 | g.144398654C>A | CA1898237 | ZEB2 | c.*2382G>T (n.*2382G>T) c.1756G>T (p.Asp586Tyr) c.2533G>T (p.Asp845Tyr) n.2502G>T c.2197G>T (p.Asp733Tyr) c.2608G>T (p.Asp870Tyr) c.*2250G>T (n.*2250G>T) n.2633G>T c.64G>T (p.Asp22Tyr) c.2530G>T (p.Asp844Tyr) c.655+2545G>T (n.655+2545G>T) c.1168-726G>T (n.1168-726G>T) c.2461G>T (p.Asp821Tyr) c.2524G>T (p.Asp842Tyr) c.2512G>T (p.Asp838Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
2 | g.144398654C= | CA1294884979 | ZEB2 | c.*2382G= (n.*2382G=) c.1756G= (p.Asp586=) c.2533G= (p.Asp845=) n.2502G= c.2197G= (p.Asp733=) c.2608G= (p.Asp870=) c.*2250G= (n.*2250G=) n.2633G= c.64G= (p.Asp22=) c.2530G= (p.Asp844=) c.655+2545G= (n.655+2545G=) c.1168-726G= (n.1168-726G=) c.2461G= (p.Asp821=) c.2524G= (p.Asp842=) c.2512G= (p.Asp838=) | |
2 | g.144398654C>G | CA348708065 | ZEB2 | c.*2382G>C (n.*2382G>C) c.1756G>C (p.Asp586His) c.2533G>C (p.Asp845His) n.2502G>C c.2197G>C (p.Asp733His) c.2608G>C (p.Asp870His) c.*2250G>C (n.*2250G>C) n.2633G>C c.64G>C (p.Asp22His) c.2530G>C (p.Asp844His) c.655+2545G>C (n.655+2545G>C) c.1168-726G>C (n.1168-726G>C) c.2461G>C (p.Asp821His) c.2524G>C (p.Asp842His) c.2512G>C (p.Asp838His) | |
2 | g.144398654C>T | CA348708064 | ZEB2 | c.*2382G>A (n.*2382G>A) c.1756G>A (p.Asp586Asn) c.2533G>A (p.Asp845Asn) n.2502G>A c.2197G>A (p.Asp733Asn) c.2608G>A (p.Asp870Asn) c.*2250G>A (n.*2250G>A) n.2633G>A c.64G>A (p.Asp22Asn) c.2530G>A (p.Asp844Asn) c.655+2545G>A (n.655+2545G>A) c.1168-726G>A (n.1168-726G>A) c.2461G>A (p.Asp821Asn) c.2524G>A (p.Asp842Asn) c.2512G>A (p.Asp838Asn) | gnomAD v4 |
2 | g.144398655T>A | CA348708066 | ZEB2 | c.*2381A>T (n.*2381A>T) c.1755A>T (p.Leu585Phe) c.2532A>T (p.Leu844Phe) n.2501A>T c.2196A>T (p.Leu732Phe) c.2607A>T (p.Leu869Phe) c.*2249A>T (n.*2249A>T) n.2632A>T c.63A>T (p.Leu21Phe) c.2529A>T (p.Leu843Phe) c.655+2544A>T (n.655+2544A>T) c.1168-727A>T (n.1168-727A>T) c.2460A>T (p.Leu820Phe) c.2523A>T (p.Leu841Phe) c.2511A>T (p.Leu837Phe) | |
2 | g.144398655T>C | CA429445671 | ZEB2 | c.*2381A>G (n.*2381A>G) c.1755A>G (p.Leu585=) c.2532A>G (p.Leu844=) n.2501A>G c.2196A>G (p.Leu732=) c.2607A>G (p.Leu869=) c.*2249A>G (n.*2249A>G) n.2632A>G c.63A>G (p.Leu21=) c.2529A>G (p.Leu843=) c.655+2544A>G (n.655+2544A>G) c.1168-727A>G (n.1168-727A>G) c.2460A>G (p.Leu820=) c.2523A>G (p.Leu841=) c.2511A>G (p.Leu837=) | |
2 | g.144398655T>G | CA57555006 | ZEB2 | c.*2381A>C (n.*2381A>C) c.1755A>C (p.Leu585Phe) c.2532A>C (p.Leu844Phe) n.2501A>C c.2196A>C (p.Leu732Phe) c.2607A>C (p.Leu869Phe) c.*2249A>C (n.*2249A>C) n.2632A>C c.63A>C (p.Leu21Phe) c.2529A>C (p.Leu843Phe) c.655+2544A>C (n.655+2544A>C) c.1168-727A>C (n.1168-727A>C) c.2460A>C (p.Leu820Phe) c.2523A>C (p.Leu841Phe) c.2511A>C (p.Leu837Phe) | dbSNP |
2 | g.144398655T= | CA1294884980 | ZEB2 | c.*2381A= (n.*2381A=) c.1755A= (p.Leu585=) c.2532A= (p.Leu844=) n.2501A= c.2196A= (p.Leu732=) c.2607A= (p.Leu869=) c.*2249A= (n.*2249A=) n.2632A= c.63A= (p.Leu21=) c.2529A= (p.Leu843=) c.655+2544A= (n.655+2544A=) c.1168-727A= (n.1168-727A=) c.2460A= (p.Leu820=) c.2523A= (p.Leu841=) c.2511A= (p.Leu837=) | |
2 | g.144398656A>C | CA348708067 | ZEB2 | c.*2380T>G (n.*2380T>G) c.1754T>G (p.Leu585Ter) c.2531T>G (p.Leu844Ter) n.2500T>G c.2195T>G (p.Leu732Ter) c.2606T>G (p.Leu869Ter) c.*2248T>G (n.*2248T>G) n.2631T>G c.62T>G (p.Leu21Ter) c.2528T>G (p.Leu843Ter) c.655+2543T>G (n.655+2543T>G) c.1168-728T>G (n.1168-728T>G) c.2459T>G (p.Leu820Ter) c.2522T>G (p.Leu841Ter) c.2510T>G (p.Leu837Ter) | ClinVar |
2 | g.144398656A>G | CA348708068 | ZEB2 | c.*2380T>C (n.*2380T>C) c.1754T>C (p.Leu585Ser) c.2531T>C (p.Leu844Ser) n.2500T>C c.2195T>C (p.Leu732Ser) c.2606T>C (p.Leu869Ser) c.*2248T>C (n.*2248T>C) n.2631T>C c.62T>C (p.Leu21Ser) c.2528T>C (p.Leu843Ser) c.655+2543T>C (n.655+2543T>C) c.1168-728T>C (n.1168-728T>C) c.2459T>C (p.Leu820Ser) c.2522T>C (p.Leu841Ser) c.2510T>C (p.Leu837Ser) | |
2 | g.144398656A>T | CA348708069 | ZEB2 | c.*2380T>A (n.*2380T>A) c.1754T>A (p.Leu585Ter) c.2531T>A (p.Leu844Ter) n.2500T>A c.2195T>A (p.Leu732Ter) c.2606T>A (p.Leu869Ter) c.*2248T>A (n.*2248T>A) n.2631T>A c.62T>A (p.Leu21Ter) c.2528T>A (p.Leu843Ter) c.655+2543T>A (n.655+2543T>A) c.1168-728T>A (n.1168-728T>A) c.2459T>A (p.Leu820Ter) c.2522T>A (p.Leu841Ter) c.2510T>A (p.Leu837Ter) | |
2 | g.144398657A>C | CA348708070 | ZEB2 | c.*2379T>G (n.*2379T>G) c.1753T>G (p.Leu585Val) c.2530T>G (p.Leu844Val) n.2499T>G c.2194T>G (p.Leu732Val) c.2605T>G (p.Leu869Val) c.*2247T>G (n.*2247T>G) n.2630T>G c.61T>G (p.Leu21Val) c.2527T>G (p.Leu843Val) c.655+2542T>G (n.655+2542T>G) c.1168-729T>G (n.1168-729T>G) c.2458T>G (p.Leu820Val) c.2521T>G (p.Leu841Val) c.2509T>G (p.Leu837Val) | |
2 | g.144398657A>G | CA429445676 | ZEB2 | c.*2379T>C (n.*2379T>C) c.1753T>C (p.Leu585=) c.2530T>C (p.Leu844=) n.2499T>C c.2194T>C (p.Leu732=) c.2605T>C (p.Leu869=) c.*2247T>C (n.*2247T>C) n.2630T>C c.61T>C (p.Leu21=) c.2527T>C (p.Leu843=) c.655+2542T>C (n.655+2542T>C) c.1168-729T>C (n.1168-729T>C) c.2458T>C (p.Leu820=) c.2521T>C (p.Leu841=) c.2509T>C (p.Leu837=) | |
2 | g.144398657A>T | CA348708071 | ZEB2 | c.*2379T>A (n.*2379T>A) c.1753T>A (p.Leu585Ile) c.2530T>A (p.Leu844Ile) n.2499T>A c.2194T>A (p.Leu732Ile) c.2605T>A (p.Leu869Ile) c.*2247T>A (n.*2247T>A) n.2630T>A c.61T>A (p.Leu21Ile) c.2527T>A (p.Leu843Ile) c.655+2542T>A (n.655+2542T>A) c.1168-729T>A (n.1168-729T>A) c.2458T>A (p.Leu820Ile) c.2521T>A (p.Leu841Ile) c.2509T>A (p.Leu837Ile) | |
2 | g.144398658A>C | CA348708072 | ZEB2 | c.*2378T>G (n.*2378T>G) c.1752T>G (p.Ser584Arg) c.2529T>G (p.Ser843Arg) n.2498T>G c.2193T>G (p.Ser731Arg) c.2604T>G (p.Ser868Arg) c.*2246T>G (n.*2246T>G) n.2629T>G c.60T>G (p.Ser20Arg) c.2526T>G (p.Ser842Arg) c.655+2541T>G (n.655+2541T>G) c.1168-730T>G (n.1168-730T>G) c.2457T>G (p.Ser819Arg) c.2520T>G (p.Ser840Arg) c.2508T>G (p.Ser836Arg) | |
2 | g.144398658A>G | CA429445677 | ZEB2 | c.*2378T>C (n.*2378T>C) c.1752T>C (p.Ser584=) c.2529T>C (p.Ser843=) n.2498T>C c.2193T>C (p.Ser731=) c.2604T>C (p.Ser868=) c.*2246T>C (n.*2246T>C) n.2629T>C c.60T>C (p.Ser20=) c.2526T>C (p.Ser842=) c.655+2541T>C (n.655+2541T>C) c.1168-730T>C (n.1168-730T>C) c.2457T>C (p.Ser819=) c.2520T>C (p.Ser840=) c.2508T>C (p.Ser836=) | |
2 | g.144398658A>T | CA348708073 | ZEB2 | c.*2378T>A (n.*2378T>A) c.1752T>A (p.Ser584Arg) c.2529T>A (p.Ser843Arg) n.2498T>A c.2193T>A (p.Ser731Arg) c.2604T>A (p.Ser868Arg) c.*2246T>A (n.*2246T>A) n.2629T>A c.60T>A (p.Ser20Arg) c.2526T>A (p.Ser842Arg) c.655+2541T>A (n.655+2541T>A) c.1168-730T>A (n.1168-730T>A) c.2457T>A (p.Ser819Arg) c.2520T>A (p.Ser840Arg) c.2508T>A (p.Ser836Arg) | |
2 | g.144398659C>A | CA1898238 | ZEB2 | c.*2377G>T (n.*2377G>T) c.1751G>T (p.Ser584Ile) c.2528G>T (p.Ser843Ile) n.2497G>T c.2192G>T (p.Ser731Ile) c.2603G>T (p.Ser868Ile) c.*2245G>T (n.*2245G>T) n.2628G>T c.59G>T (p.Ser20Ile) c.2525G>T (p.Ser842Ile) c.655+2540G>T (n.655+2540G>T) c.1168-731G>T (n.1168-731G>T) c.2456G>T (p.Ser819Ile) c.2519G>T (p.Ser840Ile) c.2507G>T (p.Ser836Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.144398659C= | CA1294884981 | ZEB2 | c.*2377G= (n.*2377G=) c.1751G= (p.Ser584=) c.2528G= (p.Ser843=) n.2497G= c.2192G= (p.Ser731=) c.2603G= (p.Ser868=) c.*2245G= (n.*2245G=) n.2628G= c.59G= (p.Ser20=) c.2525G= (p.Ser842=) c.655+2540G= (n.655+2540G=) c.1168-731G= (n.1168-731G=) c.2456G= (p.Ser819=) c.2519G= (p.Ser840=) c.2507G= (p.Ser836=) | |
2 | g.144398659C>G | CA348708074 | ZEB2 | c.*2377G>C (n.*2377G>C) c.1751G>C (p.Ser584Thr) c.2528G>C (p.Ser843Thr) n.2497G>C c.2192G>C (p.Ser731Thr) c.2603G>C (p.Ser868Thr) c.*2245G>C (n.*2245G>C) n.2628G>C c.59G>C (p.Ser20Thr) c.2525G>C (p.Ser842Thr) c.655+2540G>C (n.655+2540G>C) c.1168-731G>C (n.1168-731G>C) c.2456G>C (p.Ser819Thr) c.2519G>C (p.Ser840Thr) c.2507G>C (p.Ser836Thr) | gnomAD v4 |
2 | g.144398659C>T | CA348708075 | ZEB2 | c.*2377G>A (n.*2377G>A) c.1751G>A (p.Ser584Asn) c.2528G>A (p.Ser843Asn) n.2497G>A c.2192G>A (p.Ser731Asn) c.2603G>A (p.Ser868Asn) c.*2245G>A (n.*2245G>A) n.2628G>A c.59G>A (p.Ser20Asn) c.2525G>A (p.Ser842Asn) c.655+2540G>A (n.655+2540G>A) c.1168-731G>A (n.1168-731G>A) c.2456G>A (p.Ser819Asn) c.2519G>A (p.Ser840Asn) c.2507G>A (p.Ser836Asn) | |
2 | g.144398660T>A | CA348708078 | ZEB2 | c.*2376A>T (n.*2376A>T) c.1750A>T (p.Ser584Cys) c.2527A>T (p.Ser843Cys) n.2496A>T c.2191A>T (p.Ser731Cys) c.2602A>T (p.Ser868Cys) c.*2244A>T (n.*2244A>T) n.2627A>T c.58A>T (p.Ser20Cys) c.2524A>T (p.Ser842Cys) c.655+2539A>T (n.655+2539A>T) c.1168-732A>T (n.1168-732A>T) c.2455A>T (p.Ser819Cys) c.2518A>T (p.Ser840Cys) c.2506A>T (p.Ser836Cys) | |
2 | g.144398660T>C | CA348708077 | ZEB2 | c.*2376A>G (n.*2376A>G) c.1750A>G (p.Ser584Gly) c.2527A>G (p.Ser843Gly) n.2496A>G c.2191A>G (p.Ser731Gly) c.2602A>G (p.Ser868Gly) c.*2244A>G (n.*2244A>G) n.2627A>G c.58A>G (p.Ser20Gly) c.2524A>G (p.Ser842Gly) c.655+2539A>G (n.655+2539A>G) c.1168-732A>G (n.1168-732A>G) c.2455A>G (p.Ser819Gly) c.2518A>G (p.Ser840Gly) c.2506A>G (p.Ser836Gly) | |
2 | g.144398660T>G | CA348708076 | ZEB2 | c.*2376A>C (n.*2376A>C) c.1750A>C (p.Ser584Arg) c.2527A>C (p.Ser843Arg) n.2496A>C c.2191A>C (p.Ser731Arg) c.2602A>C (p.Ser868Arg) c.*2244A>C (n.*2244A>C) n.2627A>C c.58A>C (p.Ser20Arg) c.2524A>C (p.Ser842Arg) c.655+2539A>C (n.655+2539A>C) c.1168-732A>C (n.1168-732A>C) c.2455A>C (p.Ser819Arg) c.2518A>C (p.Ser840Arg) c.2506A>C (p.Ser836Arg) | |
2 | g.144398661G>A | CA429445681 | ZEB2 | c.*2375C>T (n.*2375C>T) c.1749C>T (p.Ile583=) c.2526C>T (p.Ile842=) n.2495C>T c.2190C>T (p.Ile730=) c.2601C>T (p.Ile867=) c.*2243C>T (n.*2243C>T) n.2626C>T c.57C>T (p.Ile19=) c.2523C>T (p.Ile841=) c.655+2538C>T (n.655+2538C>T) c.1168-733C>T (n.1168-733C>T) c.2454C>T (p.Ile818=) c.2517C>T (p.Ile839=) c.2505C>T (p.Ile835=) | |
2 | g.144398661G>C | CA348708079 | ZEB2 | c.*2375C>G (n.*2375C>G) c.1749C>G (p.Ile583Met) c.2526C>G (p.Ile842Met) n.2495C>G c.2190C>G (p.Ile730Met) c.2601C>G (p.Ile867Met) c.*2243C>G (n.*2243C>G) n.2626C>G c.57C>G (p.Ile19Met) c.2523C>G (p.Ile841Met) c.655+2538C>G (n.655+2538C>G) c.1168-733C>G (n.1168-733C>G) c.2454C>G (p.Ile818Met) c.2517C>G (p.Ile839Met) c.2505C>G (p.Ile835Met) | |
2 | g.144398661G>T | CA429445682 | ZEB2 | c.*2375C>A (n.*2375C>A) c.1749C>A (p.Ile583=) c.2526C>A (p.Ile842=) n.2495C>A c.2190C>A (p.Ile730=) c.2601C>A (p.Ile867=) c.*2243C>A (n.*2243C>A) n.2626C>A c.57C>A (p.Ile19=) c.2523C>A (p.Ile841=) c.655+2538C>A (n.655+2538C>A) c.1168-733C>A (n.1168-733C>A) c.2454C>A (p.Ile818=) c.2517C>A (p.Ile839=) c.2505C>A (p.Ile835=) | COSMIC |
2 | g.144398662A= | CA1294884982 | ZEB2 | c.*2374T= (n.*2374T=) c.1748T= (p.Ile583=) c.2525T= (p.Ile842=) n.2494T= c.2189T= (p.Ile730=) c.2600T= (p.Ile867=) c.*2242T= (n.*2242T=) n.2625T= c.56T= (p.Ile19=) c.2522T= (p.Ile841=) c.655+2537T= (n.655+2537T=) c.1168-734T= (n.1168-734T=) c.2453T= (p.Ile818=) c.2516T= (p.Ile839=) c.2504T= (p.Ile835=) | |
2 | g.144398662A>C | CA348708080 | ZEB2 | c.*2374T>G (n.*2374T>G) c.1748T>G (p.Ile583Ser) c.2525T>G (p.Ile842Ser) n.2494T>G c.2189T>G (p.Ile730Ser) c.2600T>G (p.Ile867Ser) c.*2242T>G (n.*2242T>G) n.2625T>G c.56T>G (p.Ile19Ser) c.2522T>G (p.Ile841Ser) c.655+2537T>G (n.655+2537T>G) c.1168-734T>G (n.1168-734T>G) c.2453T>G (p.Ile818Ser) c.2516T>G (p.Ile839Ser) c.2504T>G (p.Ile835Ser) | |
2 | g.144398662A>G | CA348708081 | ZEB2 | c.*2374T>C (n.*2374T>C) c.1748T>C (p.Ile583Thr) c.2525T>C (p.Ile842Thr) n.2494T>C c.2189T>C (p.Ile730Thr) c.2600T>C (p.Ile867Thr) c.*2242T>C (n.*2242T>C) n.2625T>C c.56T>C (p.Ile19Thr) c.2522T>C (p.Ile841Thr) c.655+2537T>C (n.655+2537T>C) c.1168-734T>C (n.1168-734T>C) c.2453T>C (p.Ile818Thr) c.2516T>C (p.Ile839Thr) c.2504T>C (p.Ile835Thr) | dbSNP |
2 | g.144398662A>T | CA348708082 | ZEB2 | c.*2374T>A (n.*2374T>A) c.1748T>A (p.Ile583Asn) c.2525T>A (p.Ile842Asn) n.2494T>A c.2189T>A (p.Ile730Asn) c.2600T>A (p.Ile867Asn) c.*2242T>A (n.*2242T>A) n.2625T>A c.56T>A (p.Ile19Asn) c.2522T>A (p.Ile841Asn) c.655+2537T>A (n.655+2537T>A) c.1168-734T>A (n.1168-734T>A) c.2453T>A (p.Ile818Asn) c.2516T>A (p.Ile839Asn) c.2504T>A (p.Ile835Asn) | |
2 | g.144398663T>A | CA348708083 | ZEB2 | c.*2373A>T (n.*2373A>T) c.1747A>T (p.Ile583Phe) c.2524A>T (p.Ile842Phe) n.2493A>T c.2188A>T (p.Ile730Phe) c.2599A>T (p.Ile867Phe) c.*2241A>T (n.*2241A>T) n.2624A>T c.55A>T (p.Ile19Phe) c.2521A>T (p.Ile841Phe) c.655+2536A>T (n.655+2536A>T) c.1168-735A>T (n.1168-735A>T) c.2452A>T (p.Ile818Phe) c.2515A>T (p.Ile839Phe) c.2503A>T (p.Ile835Phe) | |
2 | g.144398663T>C | CA348708084 | ZEB2 | c.*2373A>G (n.*2373A>G) c.1747A>G (p.Ile583Val) c.2524A>G (p.Ile842Val) n.2493A>G c.2188A>G (p.Ile730Val) c.2599A>G (p.Ile867Val) c.*2241A>G (n.*2241A>G) n.2624A>G c.55A>G (p.Ile19Val) c.2521A>G (p.Ile841Val) c.655+2536A>G (n.655+2536A>G) c.1168-735A>G (n.1168-735A>G) c.2452A>G (p.Ile818Val) c.2515A>G (p.Ile839Val) c.2503A>G (p.Ile835Val) | gnomAD v4 |
2 | g.144398663T>G | CA348708085 | ZEB2 | c.*2373A>C (n.*2373A>C) c.1747A>C (p.Ile583Leu) c.2524A>C (p.Ile842Leu) n.2493A>C c.2188A>C (p.Ile730Leu) c.2599A>C (p.Ile867Leu) c.*2241A>C (n.*2241A>C) n.2624A>C c.55A>C (p.Ile19Leu) c.2521A>C (p.Ile841Leu) c.655+2536A>C (n.655+2536A>C) c.1168-735A>C (n.1168-735A>C) c.2452A>C (p.Ile818Leu) c.2515A>C (p.Ile839Leu) c.2503A>C (p.Ile835Leu) | |
2 | g.144398664G>A | CA1898239 | ZEB2 | c.*2372C>T (n.*2372C>T) c.1746C>T (p.Ser582=) c.2523C>T (p.Ser841=) n.2492C>T c.2187C>T (p.Ser729=) c.2598C>T (p.Ser866=) c.*2240C>T (n.*2240C>T) n.2623C>T c.54C>T (p.Ser18=) c.2520C>T (p.Ser840=) c.655+2535C>T (n.655+2535C>T) c.1168-736C>T (n.1168-736C>T) c.2451C>T (p.Ser817=) c.2514C>T (p.Ser838=) c.2502C>T (p.Ser834=) | dbSNP ExAC gnomAD v4 |
2 | g.144398664G>C | CA348708086 | ZEB2 | c.*2372C>G (n.*2372C>G) c.1746C>G (p.Ser582Arg) c.2523C>G (p.Ser841Arg) n.2492C>G c.2187C>G (p.Ser729Arg) c.2598C>G (p.Ser866Arg) c.*2240C>G (n.*2240C>G) n.2623C>G c.54C>G (p.Ser18Arg) c.2520C>G (p.Ser840Arg) c.655+2535C>G (n.655+2535C>G) c.1168-736C>G (n.1168-736C>G) c.2451C>G (p.Ser817Arg) c.2514C>G (p.Ser838Arg) c.2502C>G (p.Ser834Arg) | |
2 | g.144398664G= | CA1294884983 | ZEB2 | c.*2372C= (n.*2372C=) c.1746C= (p.Ser582=) c.2523C= (p.Ser841=) n.2492C= c.2187C= (p.Ser729=) c.2598C= (p.Ser866=) c.*2240C= (n.*2240C=) n.2623C= c.54C= (p.Ser18=) c.2520C= (p.Ser840=) c.655+2535C= (n.655+2535C=) c.1168-736C= (n.1168-736C=) c.2451C= (p.Ser817=) c.2514C= (p.Ser838=) c.2502C= (p.Ser834=) | |
2 | g.144398664G>T | CA348708087 | ZEB2 | c.*2372C>A (n.*2372C>A) c.1746C>A (p.Ser582Arg) c.2523C>A (p.Ser841Arg) n.2492C>A c.2187C>A (p.Ser729Arg) c.2598C>A (p.Ser866Arg) c.*2240C>A (n.*2240C>A) n.2623C>A c.54C>A (p.Ser18Arg) c.2520C>A (p.Ser840Arg) c.655+2535C>A (n.655+2535C>A) c.1168-736C>A (n.1168-736C>A) c.2451C>A (p.Ser817Arg) c.2514C>A (p.Ser838Arg) c.2502C>A (p.Ser834Arg) | |
2 | g.144398665C>A | CA348708088 | ZEB2 | c.*2371G>T (n.*2371G>T) c.1745G>T (p.Ser582Ile) c.2522G>T (p.Ser841Ile) n.2491G>T c.2186G>T (p.Ser729Ile) c.2597G>T (p.Ser866Ile) c.*2239G>T (n.*2239G>T) n.2622G>T c.53G>T (p.Ser18Ile) c.2519G>T (p.Ser840Ile) c.655+2534G>T (n.655+2534G>T) c.1168-737G>T (n.1168-737G>T) c.2450G>T (p.Ser817Ile) c.2513G>T (p.Ser838Ile) c.2501G>T (p.Ser834Ile) | |
2 | g.144398665C>G | CA348708089 | ZEB2 | c.*2371G>C (n.*2371G>C) c.1745G>C (p.Ser582Thr) c.2522G>C (p.Ser841Thr) n.2491G>C c.2186G>C (p.Ser729Thr) c.2597G>C (p.Ser866Thr) c.*2239G>C (n.*2239G>C) n.2622G>C c.53G>C (p.Ser18Thr) c.2519G>C (p.Ser840Thr) c.655+2534G>C (n.655+2534G>C) c.1168-737G>C (n.1168-737G>C) c.2450G>C (p.Ser817Thr) c.2513G>C (p.Ser838Thr) c.2501G>C (p.Ser834Thr) | |
2 | g.144398665C>T | CA348708090 | ZEB2 | c.*2371G>A (n.*2371G>A) c.1745G>A (p.Ser582Asn) c.2522G>A (p.Ser841Asn) n.2491G>A c.2186G>A (p.Ser729Asn) c.2597G>A (p.Ser866Asn) c.*2239G>A (n.*2239G>A) n.2622G>A c.53G>A (p.Ser18Asn) c.2519G>A (p.Ser840Asn) c.655+2534G>A (n.655+2534G>A) c.1168-737G>A (n.1168-737G>A) c.2450G>A (p.Ser817Asn) c.2513G>A (p.Ser838Asn) c.2501G>A (p.Ser834Asn) | gnomAD v4 |
2 | g.144398666T>A | CA348708093 | ZEB2 | c.*2370A>T (n.*2370A>T) c.1744A>T (p.Ser582Cys) c.2521A>T (p.Ser841Cys) n.2490A>T c.2185A>T (p.Ser729Cys) c.2596A>T (p.Ser866Cys) c.*2238A>T (n.*2238A>T) n.2621A>T c.52A>T (p.Ser18Cys) c.2518A>T (p.Ser840Cys) c.655+2533A>T (n.655+2533A>T) c.1168-738A>T (n.1168-738A>T) c.2449A>T (p.Ser817Cys) c.2512A>T (p.Ser838Cys) c.2500A>T (p.Ser834Cys) | |
2 | g.144398666T>C | CA348708094 | ZEB2 | c.*2370A>G (n.*2370A>G) c.1744A>G (p.Ser582Gly) c.2521A>G (p.Ser841Gly) n.2490A>G c.2185A>G (p.Ser729Gly) c.2596A>G (p.Ser866Gly) c.*2238A>G (n.*2238A>G) n.2621A>G c.52A>G (p.Ser18Gly) c.2518A>G (p.Ser840Gly) c.655+2533A>G (n.655+2533A>G) c.1168-738A>G (n.1168-738A>G) c.2449A>G (p.Ser817Gly) c.2512A>G (p.Ser838Gly) c.2500A>G (p.Ser834Gly) | |
2 | g.144398666T>G | CA348708092 | ZEB2 | c.*2370A>C (n.*2370A>C) c.1744A>C (p.Ser582Arg) c.2521A>C (p.Ser841Arg) n.2490A>C c.2185A>C (p.Ser729Arg) c.2596A>C (p.Ser866Arg) c.*2238A>C (n.*2238A>C) n.2621A>C c.52A>C (p.Ser18Arg) c.2518A>C (p.Ser840Arg) c.655+2533A>C (n.655+2533A>C) c.1168-738A>C (n.1168-738A>C) c.2449A>C (p.Ser817Arg) c.2512A>C (p.Ser838Arg) c.2500A>C (p.Ser834Arg) | dbSNP |
2 | g.144398667A>C | CA348708095 | ZEB2 | c.*2369T>G (n.*2369T>G) c.1743T>G (p.Ser581Arg) c.2520T>G (p.Ser840Arg) n.2489T>G c.2184T>G (p.Ser728Arg) c.2595T>G (p.Ser865Arg) c.*2237T>G (n.*2237T>G) n.2620T>G c.51T>G (p.Ser17Arg) c.2517T>G (p.Ser839Arg) c.655+2532T>G (n.655+2532T>G) c.1168-739T>G (n.1168-739T>G) c.2448T>G (p.Ser816Arg) c.2511T>G (p.Ser837Arg) c.2499T>G (p.Ser833Arg) | |
2 | g.144398667A>G | CA429445687 | ZEB2 | c.*2369T>C (n.*2369T>C) c.1743T>C (p.Ser581=) c.2520T>C (p.Ser840=) n.2489T>C c.2184T>C (p.Ser728=) c.2595T>C (p.Ser865=) c.*2237T>C (n.*2237T>C) n.2620T>C c.51T>C (p.Ser17=) c.2517T>C (p.Ser839=) c.655+2532T>C (n.655+2532T>C) c.1168-739T>C (n.1168-739T>C) c.2448T>C (p.Ser816=) c.2511T>C (p.Ser837=) c.2499T>C (p.Ser833=) | gnomAD v4 |
2 | g.144398667A>T | CA348708096 | ZEB2 | c.*2369T>A (n.*2369T>A) c.1743T>A (p.Ser581Arg) c.2520T>A (p.Ser840Arg) n.2489T>A c.2184T>A (p.Ser728Arg) c.2595T>A (p.Ser865Arg) c.*2237T>A (n.*2237T>A) n.2620T>A c.51T>A (p.Ser17Arg) c.2517T>A (p.Ser839Arg) c.655+2532T>A (n.655+2532T>A) c.1168-739T>A (n.1168-739T>A) c.2448T>A (p.Ser816Arg) c.2511T>A (p.Ser837Arg) c.2499T>A (p.Ser833Arg) | |
2 | g.144398668C>A | CA348708097 | ZEB2 | c.*2368G>T (n.*2368G>T) c.1742G>T (p.Ser581Ile) c.2519G>T (p.Ser840Ile) n.2488G>T c.2183G>T (p.Ser728Ile) c.2594G>T (p.Ser865Ile) c.*2236G>T (n.*2236G>T) n.2619G>T c.50G>T (p.Ser17Ile) c.2516G>T (p.Ser839Ile) c.655+2531G>T (n.655+2531G>T) c.1168-740G>T (n.1168-740G>T) c.2447G>T (p.Ser816Ile) c.2510G>T (p.Ser837Ile) c.2498G>T (p.Ser833Ile) | COSMIC |
2 | g.144398668C= | CA1294884984 | ZEB2 | c.*2368G= (n.*2368G=) c.1742G= (p.Ser581=) c.2519G= (p.Ser840=) n.2488G= c.2183G= (p.Ser728=) c.2594G= (p.Ser865=) c.*2236G= (n.*2236G=) n.2619G= c.50G= (p.Ser17=) c.2516G= (p.Ser839=) c.655+2531G= (n.655+2531G=) c.1168-740G= (n.1168-740G=) c.2447G= (p.Ser816=) c.2510G= (p.Ser837=) c.2498G= (p.Ser833=) | |
2 | g.144398668C>G | CA348708098 | ZEB2 | c.*2368G>C (n.*2368G>C) c.1742G>C (p.Ser581Thr) c.2519G>C (p.Ser840Thr) n.2488G>C c.2183G>C (p.Ser728Thr) c.2594G>C (p.Ser865Thr) c.*2236G>C (n.*2236G>C) n.2619G>C c.50G>C (p.Ser17Thr) c.2516G>C (p.Ser839Thr) c.655+2531G>C (n.655+2531G>C) c.1168-740G>C (n.1168-740G>C) c.2447G>C (p.Ser816Thr) c.2510G>C (p.Ser837Thr) c.2498G>C (p.Ser833Thr) | dbSNP gnomAD v2 |
2 | g.144398668C>T | CA348708099 | ZEB2 | c.*2368G>A (n.*2368G>A) c.1742G>A (p.Ser581Asn) c.2519G>A (p.Ser840Asn) n.2488G>A c.2183G>A (p.Ser728Asn) c.2594G>A (p.Ser865Asn) c.*2236G>A (n.*2236G>A) n.2619G>A c.50G>A (p.Ser17Asn) c.2516G>A (p.Ser839Asn) c.655+2531G>A (n.655+2531G>A) c.1168-740G>A (n.1168-740G>A) c.2447G>A (p.Ser816Asn) c.2510G>A (p.Ser837Asn) c.2498G>A (p.Ser833Asn) | ClinVar dbSNP gnomAD v4 |
2 | g.144398669T>A | CA348708100 | ZEB2 | c.*2367A>T (n.*2367A>T) c.1741A>T (p.Ser581Cys) c.2518A>T (p.Ser840Cys) n.2487A>T c.2182A>T (p.Ser728Cys) c.2593A>T (p.Ser865Cys) c.*2235A>T (n.*2235A>T) n.2618A>T c.49A>T (p.Ser17Cys) c.2515A>T (p.Ser839Cys) c.655+2530A>T (n.655+2530A>T) c.1168-741A>T (n.1168-741A>T) c.2446A>T (p.Ser816Cys) c.2509A>T (p.Ser837Cys) c.2497A>T (p.Ser833Cys) | |
2 | g.144398669T>C | CA348708101 | ZEB2 | c.*2367A>G (n.*2367A>G) c.1741A>G (p.Ser581Gly) c.2518A>G (p.Ser840Gly) n.2487A>G c.2182A>G (p.Ser728Gly) c.2593A>G (p.Ser865Gly) c.*2235A>G (n.*2235A>G) n.2618A>G c.49A>G (p.Ser17Gly) c.2515A>G (p.Ser839Gly) c.655+2530A>G (n.655+2530A>G) c.1168-741A>G (n.1168-741A>G) c.2446A>G (p.Ser816Gly) c.2509A>G (p.Ser837Gly) c.2497A>G (p.Ser833Gly) | gnomAD v4 |
2 | g.144398669T>G | CA348708102 | ZEB2 | c.*2367A>C (n.*2367A>C) c.1741A>C (p.Ser581Arg) c.2518A>C (p.Ser840Arg) n.2487A>C c.2182A>C (p.Ser728Arg) c.2593A>C (p.Ser865Arg) c.*2235A>C (n.*2235A>C) n.2618A>C c.49A>C (p.Ser17Arg) c.2515A>C (p.Ser839Arg) c.655+2530A>C (n.655+2530A>C) c.1168-741A>C (n.1168-741A>C) c.2446A>C (p.Ser816Arg) c.2509A>C (p.Ser837Arg) c.2497A>C (p.Ser833Arg) | |
2 | g.144398670A>C | CA429445689 | ZEB2 | c.*2366T>G (n.*2366T>G) c.1740T>G (p.Ala580=) c.2517T>G (p.Ala839=) n.2486T>G c.2181T>G (p.Ala727=) c.2592T>G (p.Ala864=) c.*2234T>G (n.*2234T>G) n.2617T>G c.48T>G (p.Ala16=) c.2514T>G (p.Ala838=) c.655+2529T>G (n.655+2529T>G) c.1168-742T>G (n.1168-742T>G) c.2445T>G (p.Ala815=) c.2508T>G (p.Ala836=) c.2496T>G (p.Ala832=) | |
2 | g.144398670A>G | CA429445690 | ZEB2 | c.*2366T>C (n.*2366T>C) c.1740T>C (p.Ala580=) c.2517T>C (p.Ala839=) n.2486T>C c.2181T>C (p.Ala727=) c.2592T>C (p.Ala864=) c.*2234T>C (n.*2234T>C) n.2617T>C c.48T>C (p.Ala16=) c.2514T>C (p.Ala838=) c.655+2529T>C (n.655+2529T>C) c.1168-742T>C (n.1168-742T>C) c.2445T>C (p.Ala815=) c.2508T>C (p.Ala836=) c.2496T>C (p.Ala832=) | ClinVar gnomAD v3 gnomAD v4 |
2 | g.144398670A>T | CA429445691 | ZEB2 | c.*2366T>A (n.*2366T>A) c.1740T>A (p.Ala580=) c.2517T>A (p.Ala839=) n.2486T>A c.2181T>A (p.Ala727=) c.2592T>A (p.Ala864=) c.*2234T>A (n.*2234T>A) n.2617T>A c.48T>A (p.Ala16=) c.2514T>A (p.Ala838=) c.655+2529T>A (n.655+2529T>A) c.1168-742T>A (n.1168-742T>A) c.2445T>A (p.Ala815=) c.2508T>A (p.Ala836=) c.2496T>A (p.Ala832=) | |
2 | g.144398671G>A | CA348708103 | ZEB2 | c.*2365C>T (n.*2365C>T) c.1739C>T (p.Ala580Val) c.2516C>T (p.Ala839Val) n.2485C>T c.2180C>T (p.Ala727Val) c.2591C>T (p.Ala864Val) c.*2233C>T (n.*2233C>T) n.2616C>T c.47C>T (p.Ala16Val) c.2513C>T (p.Ala838Val) c.655+2528C>T (n.655+2528C>T) c.1168-743C>T (n.1168-743C>T) c.2444C>T (p.Ala815Val) c.2507C>T (p.Ala836Val) c.2495C>T (p.Ala832Val) | |
2 | g.144398671G>C | CA1898240 | ZEB2 | c.*2365C>G (n.*2365C>G) c.1739C>G (p.Ala580Gly) c.2516C>G (p.Ala839Gly) n.2485C>G c.2180C>G (p.Ala727Gly) c.2591C>G (p.Ala864Gly) c.*2233C>G (n.*2233C>G) n.2616C>G c.47C>G (p.Ala16Gly) c.2513C>G (p.Ala838Gly) c.655+2528C>G (n.655+2528C>G) c.1168-743C>G (n.1168-743C>G) c.2444C>G (p.Ala815Gly) c.2507C>G (p.Ala836Gly) c.2495C>G (p.Ala832Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.144398671G= | CA1294884985 | ZEB2 | c.*2365C= (n.*2365C=) c.1739C= (p.Ala580=) c.2516C= (p.Ala839=) n.2485C= c.2180C= (p.Ala727=) c.2591C= (p.Ala864=) c.*2233C= (n.*2233C=) n.2616C= c.47C= (p.Ala16=) c.2513C= (p.Ala838=) c.655+2528C= (n.655+2528C=) c.1168-743C= (n.1168-743C=) c.2444C= (p.Ala815=) c.2507C= (p.Ala836=) c.2495C= (p.Ala832=) | |
2 | g.144398671G>T | CA348708104 | ZEB2 | c.*2365C>A (n.*2365C>A) c.1739C>A (p.Ala580Asp) c.2516C>A (p.Ala839Asp) n.2485C>A c.2180C>A (p.Ala727Asp) c.2591C>A (p.Ala864Asp) c.*2233C>A (n.*2233C>A) n.2616C>A c.47C>A (p.Ala16Asp) c.2513C>A (p.Ala838Asp) c.655+2528C>A (n.655+2528C>A) c.1168-743C>A (n.1168-743C>A) c.2444C>A (p.Ala815Asp) c.2507C>A (p.Ala836Asp) c.2495C>A (p.Ala832Asp) | |
2 | g.144398672C>A | CA348708105 | ZEB2 | c.*2364G>T (n.*2364G>T) c.1738G>T (p.Ala580Ser) c.2515G>T (p.Ala839Ser) n.2484G>T c.2179G>T (p.Ala727Ser) c.2590G>T (p.Ala864Ser) c.*2232G>T (n.*2232G>T) n.2615G>T c.46G>T (p.Ala16Ser) c.2512G>T (p.Ala838Ser) c.655+2527G>T (n.655+2527G>T) c.1168-744G>T (n.1168-744G>T) c.2443G>T (p.Ala815Ser) c.2506G>T (p.Ala836Ser) c.2494G>T (p.Ala832Ser) | gnomAD v4 |
2 | g.144398672C= | CA1294884986 | ZEB2 | c.*2364G= (n.*2364G=) c.1738G= (p.Ala580=) c.2515G= (p.Ala839=) n.2484G= c.2179G= (p.Ala727=) c.2590G= (p.Ala864=) c.*2232G= (n.*2232G=) n.2615G= c.46G= (p.Ala16=) c.2512G= (p.Ala838=) c.655+2527G= (n.655+2527G=) c.1168-744G= (n.1168-744G=) c.2443G= (p.Ala815=) c.2506G= (p.Ala836=) c.2494G= (p.Ala832=) | |
2 | g.144398672C>G | CA348708106 | ZEB2 | c.*2364G>C (n.*2364G>C) c.1738G>C (p.Ala580Pro) c.2515G>C (p.Ala839Pro) n.2484G>C c.2179G>C (p.Ala727Pro) c.2590G>C (p.Ala864Pro) c.*2232G>C (n.*2232G>C) n.2615G>C c.46G>C (p.Ala16Pro) c.2512G>C (p.Ala838Pro) c.655+2527G>C (n.655+2527G>C) c.1168-744G>C (n.1168-744G>C) c.2443G>C (p.Ala815Pro) c.2506G>C (p.Ala836Pro) c.2494G>C (p.Ala832Pro) | |
2 | g.144398672C>T | CA348708107 | ZEB2 | c.*2364G>A (n.*2364G>A) c.1738G>A (p.Ala580Thr) c.2515G>A (p.Ala839Thr) n.2484G>A c.2179G>A (p.Ala727Thr) c.2590G>A (p.Ala864Thr) c.*2232G>A (n.*2232G>A) n.2615G>A c.46G>A (p.Ala16Thr) c.2512G>A (p.Ala838Thr) c.655+2527G>A (n.655+2527G>A) c.1168-744G>A (n.1168-744G>A) c.2443G>A (p.Ala815Thr) c.2506G>A (p.Ala836Thr) c.2494G>A (p.Ala832Thr) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.144398673T>A | CA348708109 | ZEB2 | c.*2363A>T (n.*2363A>T) c.1737A>T (p.Lys579Asn) c.2514A>T (p.Lys838Asn) n.2483A>T c.2178A>T (p.Lys726Asn) c.2589A>T (p.Lys863Asn) c.*2231A>T (n.*2231A>T) n.2614A>T c.45A>T (p.Lys15Asn) c.2511A>T (p.Lys837Asn) c.655+2526A>T (n.655+2526A>T) c.1168-745A>T (n.1168-745A>T) c.2442A>T (p.Lys814Asn) c.2505A>T (p.Lys835Asn) c.2493A>T (p.Lys831Asn) | |
2 | g.144398673T>C | CA429445695 | ZEB2 | c.*2363A>G (n.*2363A>G) c.1737A>G (p.Lys579=) c.2514A>G (p.Lys838=) n.2483A>G c.2178A>G (p.Lys726=) c.2589A>G (p.Lys863=) c.*2231A>G (n.*2231A>G) n.2614A>G c.45A>G (p.Lys15=) c.2511A>G (p.Lys837=) c.655+2526A>G (n.655+2526A>G) c.1168-745A>G (n.1168-745A>G) c.2442A>G (p.Lys814=) c.2505A>G (p.Lys835=) c.2493A>G (p.Lys831=) | |
2 | g.144398673T>G | CA348708108 | ZEB2 | c.*2363A>C (n.*2363A>C) c.1737A>C (p.Lys579Asn) c.2514A>C (p.Lys838Asn) n.2483A>C c.2178A>C (p.Lys726Asn) c.2589A>C (p.Lys863Asn) c.*2231A>C (n.*2231A>C) n.2614A>C c.45A>C (p.Lys15Asn) c.2511A>C (p.Lys837Asn) c.655+2526A>C (n.655+2526A>C) c.1168-745A>C (n.1168-745A>C) c.2442A>C (p.Lys814Asn) c.2505A>C (p.Lys835Asn) c.2493A>C (p.Lys831Asn) | |
2 | g.144398674T>A | CA348708110 | ZEB2 | c.*2362A>T (n.*2362A>T) c.1736A>T (p.Lys579Ile) c.2513A>T (p.Lys838Ile) n.2482A>T c.2177A>T (p.Lys726Ile) c.2588A>T (p.Lys863Ile) c.*2230A>T (n.*2230A>T) n.2613A>T c.44A>T (p.Lys15Ile) c.2510A>T (p.Lys837Ile) c.655+2525A>T (n.655+2525A>T) c.1168-746A>T (n.1168-746A>T) c.2441A>T (p.Lys814Ile) c.2504A>T (p.Lys835Ile) c.2492A>T (p.Lys831Ile) | |
2 | g.144398674T>C | CA348708111 | ZEB2 | c.*2362A>G (n.*2362A>G) c.1736A>G (p.Lys579Arg) c.2513A>G (p.Lys838Arg) n.2482A>G c.2177A>G (p.Lys726Arg) c.2588A>G (p.Lys863Arg) c.*2230A>G (n.*2230A>G) n.2613A>G c.44A>G (p.Lys15Arg) c.2510A>G (p.Lys837Arg) c.655+2525A>G (n.655+2525A>G) c.1168-746A>G (n.1168-746A>G) c.2441A>G (p.Lys814Arg) c.2504A>G (p.Lys835Arg) c.2492A>G (p.Lys831Arg) | |
2 | g.144398674T>G | CA348708112 | ZEB2 | c.*2362A>C (n.*2362A>C) c.1736A>C (p.Lys579Thr) c.2513A>C (p.Lys838Thr) n.2482A>C c.2177A>C (p.Lys726Thr) c.2588A>C (p.Lys863Thr) c.*2230A>C (n.*2230A>C) n.2613A>C c.44A>C (p.Lys15Thr) c.2510A>C (p.Lys837Thr) c.655+2525A>C (n.655+2525A>C) c.1168-746A>C (n.1168-746A>C) c.2441A>C (p.Lys814Thr) c.2504A>C (p.Lys835Thr) c.2492A>C (p.Lys831Thr) | |
2 | g.144398675T>A | CA348708113 | ZEB2 | c.*2361A>T (n.*2361A>T) c.1735A>T (p.Lys579Ter) c.2512A>T (p.Lys838Ter) n.2481A>T c.2176A>T (p.Lys726Ter) c.2587A>T (p.Lys863Ter) c.*2229A>T (n.*2229A>T) n.2612A>T c.43A>T (p.Lys15Ter) c.2509A>T (p.Lys837Ter) c.655+2524A>T (n.655+2524A>T) c.1168-747A>T (n.1168-747A>T) c.2440A>T (p.Lys814Ter) c.2503A>T (p.Lys835Ter) c.2491A>T (p.Lys831Ter) | |
2 | g.144398675T>C | CA348708114 | ZEB2 | c.*2361A>G (n.*2361A>G) c.1735A>G (p.Lys579Glu) c.2512A>G (p.Lys838Glu) n.2481A>G c.2176A>G (p.Lys726Glu) c.2587A>G (p.Lys863Glu) c.*2229A>G (n.*2229A>G) n.2612A>G c.43A>G (p.Lys15Glu) c.2509A>G (p.Lys837Glu) c.655+2524A>G (n.655+2524A>G) c.1168-747A>G (n.1168-747A>G) c.2440A>G (p.Lys814Glu) c.2503A>G (p.Lys835Glu) c.2491A>G (p.Lys831Glu) | |
2 | g.144398675T>G | CA348708115 | ZEB2 | c.*2361A>C (n.*2361A>C) c.1735A>C (p.Lys579Gln) c.2512A>C (p.Lys838Gln) n.2481A>C c.2176A>C (p.Lys726Gln) c.2587A>C (p.Lys863Gln) c.*2229A>C (n.*2229A>C) n.2612A>C c.43A>C (p.Lys15Gln) c.2509A>C (p.Lys837Gln) c.655+2524A>C (n.655+2524A>C) c.1168-747A>C (n.1168-747A>C) c.2440A>C (p.Lys814Gln) c.2503A>C (p.Lys835Gln) c.2491A>C (p.Lys831Gln) | |
2 | g.144398676T>A | CA429445699 | ZEB2 | c.*2360A>T (n.*2360A>T) c.1734A>T (p.Thr578=) c.2511A>T (p.Thr837=) n.2480A>T c.2175A>T (p.Thr725=) c.2586A>T (p.Thr862=) c.*2228A>T (n.*2228A>T) n.2611A>T c.42A>T (p.Thr14=) c.2508A>T (p.Thr836=) c.655+2523A>T (n.655+2523A>T) c.1168-748A>T (n.1168-748A>T) c.2439A>T (p.Thr813=) c.2502A>T (p.Thr834=) c.2490A>T (p.Thr830=) | |
2 | g.144398676T>C | CA429445700 | ZEB2 | c.*2360A>G (n.*2360A>G) c.1734A>G (p.Thr578=) c.2511A>G (p.Thr837=) n.2480A>G c.2175A>G (p.Thr725=) c.2586A>G (p.Thr862=) c.*2228A>G (n.*2228A>G) n.2611A>G c.42A>G (p.Thr14=) c.2508A>G (p.Thr836=) c.655+2523A>G (n.655+2523A>G) c.1168-748A>G (n.1168-748A>G) c.2439A>G (p.Thr813=) c.2502A>G (p.Thr834=) c.2490A>G (p.Thr830=) | |
2 | g.144398676T>G | CA429445701 | ZEB2 | c.*2360A>C (n.*2360A>C) c.1734A>C (p.Thr578=) c.2511A>C (p.Thr837=) n.2480A>C c.2175A>C (p.Thr725=) c.2586A>C (p.Thr862=) c.*2228A>C (n.*2228A>C) n.2611A>C c.42A>C (p.Thr14=) c.2508A>C (p.Thr836=) c.655+2523A>C (n.655+2523A>C) c.1168-748A>C (n.1168-748A>C) c.2439A>C (p.Thr813=) c.2502A>C (p.Thr834=) c.2490A>C (p.Thr830=) | |
2 | g.144398677G>A | CA1898241 | ZEB2 | c.*2359C>T (n.*2359C>T) c.1733C>T (p.Thr578Ile) c.2510C>T (p.Thr837Ile) n.2479C>T c.2174C>T (p.Thr725Ile) c.2585C>T (p.Thr862Ile) c.*2227C>T (n.*2227C>T) n.2610C>T c.41C>T (p.Thr14Ile) c.2507C>T (p.Thr836Ile) c.655+2522C>T (n.655+2522C>T) c.1168-749C>T (n.1168-749C>T) c.2438C>T (p.Thr813Ile) c.2501C>T (p.Thr834Ile) c.2489C>T (p.Thr830Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.144398677G>C | CA348708116 | ZEB2 | c.*2359C>G (n.*2359C>G) c.1733C>G (p.Thr578Arg) c.2510C>G (p.Thr837Arg) n.2479C>G c.2174C>G (p.Thr725Arg) c.2585C>G (p.Thr862Arg) c.*2227C>G (n.*2227C>G) n.2610C>G c.41C>G (p.Thr14Arg) c.2507C>G (p.Thr836Arg) c.655+2522C>G (n.655+2522C>G) c.1168-749C>G (n.1168-749C>G) c.2438C>G (p.Thr813Arg) c.2501C>G (p.Thr834Arg) c.2489C>G (p.Thr830Arg) | |
2 | g.144398677G= | CA1294884987 | ZEB2 | c.*2359C= (n.*2359C=) c.1733C= (p.Thr578=) c.2510C= (p.Thr837=) n.2479C= c.2174C= (p.Thr725=) c.2585C= (p.Thr862=) c.*2227C= (n.*2227C=) n.2610C= c.41C= (p.Thr14=) c.2507C= (p.Thr836=) c.655+2522C= (n.655+2522C=) c.1168-749C= (n.1168-749C=) c.2438C= (p.Thr813=) c.2501C= (p.Thr834=) c.2489C= (p.Thr830=) | |
2 | g.144398677G>T | CA348708117 | ZEB2 | c.*2359C>A (n.*2359C>A) c.1733C>A (p.Thr578Lys) c.2510C>A (p.Thr837Lys) n.2479C>A c.2174C>A (p.Thr725Lys) c.2585C>A (p.Thr862Lys) c.*2227C>A (n.*2227C>A) n.2610C>A c.41C>A (p.Thr14Lys) c.2507C>A (p.Thr836Lys) c.655+2522C>A (n.655+2522C>A) c.1168-749C>A (n.1168-749C>A) c.2438C>A (p.Thr813Lys) c.2501C>A (p.Thr834Lys) c.2489C>A (p.Thr830Lys) | |
2 | g.144398678T>A | CA348708118 | ZEB2 | c.*2358A>T (n.*2358A>T) c.1732A>T (p.Thr578Ser) c.2509A>T (p.Thr837Ser) n.2478A>T c.2173A>T (p.Thr725Ser) c.2584A>T (p.Thr862Ser) c.*2226A>T (n.*2226A>T) n.2609A>T c.40A>T (p.Thr14Ser) c.2506A>T (p.Thr836Ser) c.655+2521A>T (n.655+2521A>T) c.1168-750A>T (n.1168-750A>T) c.2437A>T (p.Thr813Ser) c.2500A>T (p.Thr834Ser) c.2488A>T (p.Thr830Ser) | |
2 | g.144398678T>C | CA348708119 | ZEB2 | c.*2358A>G (n.*2358A>G) c.1732A>G (p.Thr578Ala) c.2509A>G (p.Thr837Ala) n.2478A>G c.2173A>G (p.Thr725Ala) c.2584A>G (p.Thr862Ala) c.*2226A>G (n.*2226A>G) n.2609A>G c.40A>G (p.Thr14Ala) c.2506A>G (p.Thr836Ala) c.655+2521A>G (n.655+2521A>G) c.1168-750A>G (n.1168-750A>G) c.2437A>G (p.Thr813Ala) c.2500A>G (p.Thr834Ala) c.2488A>G (p.Thr830Ala) | |
2 | g.144398678T>G | CA348708120 | ZEB2 | c.*2358A>C (n.*2358A>C) c.1732A>C (p.Thr578Pro) c.2509A>C (p.Thr837Pro) n.2478A>C c.2173A>C (p.Thr725Pro) c.2584A>C (p.Thr862Pro) c.*2226A>C (n.*2226A>C) n.2609A>C c.40A>C (p.Thr14Pro) c.2506A>C (p.Thr836Pro) c.655+2521A>C (n.655+2521A>C) c.1168-750A>C (n.1168-750A>C) c.2437A>C (p.Thr813Pro) c.2500A>C (p.Thr834Pro) c.2488A>C (p.Thr830Pro) | |
2 | g.144398679T>A | CA348708121 | ZEB2 | c.*2357A>T (n.*2357A>T) c.1731A>T (p.Lys577Asn) c.2508A>T (p.Lys836Asn) n.2477A>T c.2172A>T (p.Lys724Asn) c.2583A>T (p.Lys861Asn) c.*2225A>T (n.*2225A>T) n.2608A>T c.39A>T (p.Lys13Asn) c.2505A>T (p.Lys835Asn) c.655+2520A>T (n.655+2520A>T) c.1168-751A>T (n.1168-751A>T) c.2436A>T (p.Lys812Asn) c.2499A>T (p.Lys833Asn) c.2487A>T (p.Lys829Asn) | |
2 | g.144398679T>C | CA429445707 | ZEB2 | c.*2357A>G (n.*2357A>G) c.1731A>G (p.Lys577=) c.2508A>G (p.Lys836=) n.2477A>G c.2172A>G (p.Lys724=) c.2583A>G (p.Lys861=) c.*2225A>G (n.*2225A>G) n.2608A>G c.39A>G (p.Lys13=) c.2505A>G (p.Lys835=) c.655+2520A>G (n.655+2520A>G) c.1168-751A>G (n.1168-751A>G) c.2436A>G (p.Lys812=) c.2499A>G (p.Lys833=) c.2487A>G (p.Lys829=) | |
2 | g.144398679T>G | CA348708122 | ZEB2 | c.*2357A>C (n.*2357A>C) c.1731A>C (p.Lys577Asn) c.2508A>C (p.Lys836Asn) n.2477A>C c.2172A>C (p.Lys724Asn) c.2583A>C (p.Lys861Asn) c.*2225A>C (n.*2225A>C) n.2608A>C c.39A>C (p.Lys13Asn) c.2505A>C (p.Lys835Asn) c.655+2520A>C (n.655+2520A>C) c.1168-751A>C (n.1168-751A>C) c.2436A>C (p.Lys812Asn) c.2499A>C (p.Lys833Asn) c.2487A>C (p.Lys829Asn) | |
2 | g.144398680T>A | CA348708125 | ZEB2 | c.*2356A>T (n.*2356A>T) c.1730A>T (p.Lys577Ile) c.2507A>T (p.Lys836Ile) n.2476A>T c.2171A>T (p.Lys724Ile) c.2582A>T (p.Lys861Ile) c.*2224A>T (n.*2224A>T) n.2607A>T c.38A>T (p.Lys13Ile) c.2504A>T (p.Lys835Ile) c.655+2519A>T (n.655+2519A>T) c.1168-752A>T (n.1168-752A>T) c.2435A>T (p.Lys812Ile) c.2498A>T (p.Lys833Ile) c.2486A>T (p.Lys829Ile) | |
2 | g.144398680T>C | CA348708124 | ZEB2 | c.*2356A>G (n.*2356A>G) c.1730A>G (p.Lys577Arg) c.2507A>G (p.Lys836Arg) n.2476A>G c.2171A>G (p.Lys724Arg) c.2582A>G (p.Lys861Arg) c.*2224A>G (n.*2224A>G) n.2607A>G c.38A>G (p.Lys13Arg) c.2504A>G (p.Lys835Arg) c.655+2519A>G (n.655+2519A>G) c.1168-752A>G (n.1168-752A>G) c.2435A>G (p.Lys812Arg) c.2498A>G (p.Lys833Arg) c.2486A>G (p.Lys829Arg) | |
2 | g.144398680T>G | CA348708123 | ZEB2 | c.*2356A>C (n.*2356A>C) c.1730A>C (p.Lys577Thr) c.2507A>C (p.Lys836Thr) n.2476A>C c.2171A>C (p.Lys724Thr) c.2582A>C (p.Lys861Thr) c.*2224A>C (n.*2224A>C) n.2607A>C c.38A>C (p.Lys13Thr) c.2504A>C (p.Lys835Thr) c.655+2519A>C (n.655+2519A>C) c.1168-752A>C (n.1168-752A>C) c.2435A>C (p.Lys812Thr) c.2498A>C (p.Lys833Thr) c.2486A>C (p.Lys829Thr) | |
2 | g.144398681T>A | CA348708126 | ZEB2 | c.*2355A>T (n.*2355A>T) c.1729A>T (p.Lys577Ter) c.2506A>T (p.Lys836Ter) n.2475A>T c.2170A>T (p.Lys724Ter) c.2581A>T (p.Lys861Ter) c.*2223A>T (n.*2223A>T) n.2606A>T c.37A>T (p.Lys13Ter) c.2503A>T (p.Lys835Ter) c.655+2518A>T (n.655+2518A>T) c.1168-753A>T (n.1168-753A>T) c.2434A>T (p.Lys812Ter) c.2497A>T (p.Lys833Ter) c.2485A>T (p.Lys829Ter) | |
2 | g.144398681T>C | CA348708128 | ZEB2 | c.*2355A>G (n.*2355A>G) c.1729A>G (p.Lys577Glu) c.2506A>G (p.Lys836Glu) n.2475A>G c.2170A>G (p.Lys724Glu) c.2581A>G (p.Lys861Glu) c.*2223A>G (n.*2223A>G) n.2606A>G c.37A>G (p.Lys13Glu) c.2503A>G (p.Lys835Glu) c.655+2518A>G (n.655+2518A>G) c.1168-753A>G (n.1168-753A>G) c.2434A>G (p.Lys812Glu) c.2497A>G (p.Lys833Glu) c.2485A>G (p.Lys829Glu) | ClinVar gnomAD v4 |
2 | g.144398681T>G | CA348708127 | ZEB2 | c.*2355A>C (n.*2355A>C) c.1729A>C (p.Lys577Gln) c.2506A>C (p.Lys836Gln) n.2475A>C c.2170A>C (p.Lys724Gln) c.2581A>C (p.Lys861Gln) c.*2223A>C (n.*2223A>C) n.2606A>C c.37A>C (p.Lys13Gln) c.2503A>C (p.Lys835Gln) c.655+2518A>C (n.655+2518A>C) c.1168-753A>C (n.1168-753A>C) c.2434A>C (p.Lys812Gln) c.2497A>C (p.Lys833Gln) c.2485A>C (p.Lys829Gln) | |
2 | g.144398682G>A | CA429445716 | ZEB2 | c.*2354C>T (n.*2354C>T) c.1728C>T (p.Asn576=) c.2505C>T (p.Asn835=) n.2474C>T c.2169C>T (p.Asn723=) c.2580C>T (p.Asn860=) c.*2222C>T (n.*2222C>T) n.2605C>T c.36C>T (p.Asn12=) c.2502C>T (p.Asn834=) c.655+2517C>T (n.655+2517C>T) c.1168-754C>T (n.1168-754C>T) c.2433C>T (p.Asn811=) c.2496C>T (p.Asn832=) c.2484C>T (p.Asn828=) | ClinVar dbSNP gnomAD v4 |
2 | g.144398682G>C | CA348708129 | ZEB2 | c.*2354C>G (n.*2354C>G) c.1728C>G (p.Asn576Lys) c.2505C>G (p.Asn835Lys) n.2474C>G c.2169C>G (p.Asn723Lys) c.2580C>G (p.Asn860Lys) c.*2222C>G (n.*2222C>G) n.2605C>G c.36C>G (p.Asn12Lys) c.2502C>G (p.Asn834Lys) c.655+2517C>G (n.655+2517C>G) c.1168-754C>G (n.1168-754C>G) c.2433C>G (p.Asn811Lys) c.2496C>G (p.Asn832Lys) c.2484C>G (p.Asn828Lys) | |
2 | g.144398682G= | CA1294884988 | ZEB2 | c.*2354C= (n.*2354C=) c.1728C= (p.Asn576=) c.2505C= (p.Asn835=) n.2474C= c.2169C= (p.Asn723=) c.2580C= (p.Asn860=) c.*2222C= (n.*2222C=) n.2605C= c.36C= (p.Asn12=) c.2502C= (p.Asn834=) c.655+2517C= (n.655+2517C=) c.1168-754C= (n.1168-754C=) c.2433C= (p.Asn811=) c.2496C= (p.Asn832=) c.2484C= (p.Asn828=) | |
2 | g.144398682G>T | CA348708130 | ZEB2 | c.*2354C>A (n.*2354C>A) c.1728C>A (p.Asn576Lys) c.2505C>A (p.Asn835Lys) n.2474C>A c.2169C>A (p.Asn723Lys) c.2580C>A (p.Asn860Lys) c.*2222C>A (n.*2222C>A) n.2605C>A c.36C>A (p.Asn12Lys) c.2502C>A (p.Asn834Lys) c.655+2517C>A (n.655+2517C>A) c.1168-754C>A (n.1168-754C>A) c.2433C>A (p.Asn811Lys) c.2496C>A (p.Asn832Lys) c.2484C>A (p.Asn828Lys) | |
2 | g.144398683T>A | CA348708131 | ZEB2 | c.*2353A>T (n.*2353A>T) c.1727A>T (p.Asn576Ile) c.2504A>T (p.Asn835Ile) n.2473A>T c.2168A>T (p.Asn723Ile) c.2579A>T (p.Asn860Ile) c.*2221A>T (n.*2221A>T) n.2604A>T c.35A>T (p.Asn12Ile) c.2501A>T (p.Asn834Ile) c.655+2516A>T (n.655+2516A>T) c.1168-755A>T (n.1168-755A>T) c.2432A>T (p.Asn811Ile) c.2495A>T (p.Asn832Ile) c.2483A>T (p.Asn828Ile) | |
2 | g.144398683T>C | CA348708132 | ZEB2 | c.*2353A>G (n.*2353A>G) c.1727A>G (p.Asn576Ser) c.2504A>G (p.Asn835Ser) n.2473A>G c.2168A>G (p.Asn723Ser) c.2579A>G (p.Asn860Ser) c.*2221A>G (n.*2221A>G) n.2604A>G c.35A>G (p.Asn12Ser) c.2501A>G (p.Asn834Ser) c.655+2516A>G (n.655+2516A>G) c.1168-755A>G (n.1168-755A>G) c.2432A>G (p.Asn811Ser) c.2495A>G (p.Asn832Ser) c.2483A>G (p.Asn828Ser) | |
2 | g.144398683T>G | CA348708133 | ZEB2 | c.*2353A>C (n.*2353A>C) c.1727A>C (p.Asn576Thr) c.2504A>C (p.Asn835Thr) n.2473A>C c.2168A>C (p.Asn723Thr) c.2579A>C (p.Asn860Thr) c.*2221A>C (n.*2221A>C) n.2604A>C c.35A>C (p.Asn12Thr) c.2501A>C (p.Asn834Thr) c.655+2516A>C (n.655+2516A>C) c.1168-755A>C (n.1168-755A>C) c.2432A>C (p.Asn811Thr) c.2495A>C (p.Asn832Thr) c.2483A>C (p.Asn828Thr) | |
2 | g.144398684T>A | CA348708134 | ZEB2 | c.*2352A>T (n.*2352A>T) c.1726A>T (p.Asn576Tyr) c.2503A>T (p.Asn835Tyr) n.2472A>T c.2167A>T (p.Asn723Tyr) c.2578A>T (p.Asn860Tyr) c.*2220A>T (n.*2220A>T) n.2603A>T c.34A>T (p.Asn12Tyr) c.2500A>T (p.Asn834Tyr) c.655+2515A>T (n.655+2515A>T) c.1168-756A>T (n.1168-756A>T) c.2431A>T (p.Asn811Tyr) c.2494A>T (p.Asn832Tyr) c.2482A>T (p.Asn828Tyr) | |
2 | g.144398684T>C | CA348708135 | ZEB2 | c.*2352A>G (n.*2352A>G) c.1726A>G (p.Asn576Asp) c.2503A>G (p.Asn835Asp) n.2472A>G c.2167A>G (p.Asn723Asp) c.2578A>G (p.Asn860Asp) c.*2220A>G (n.*2220A>G) n.2603A>G c.34A>G (p.Asn12Asp) c.2500A>G (p.Asn834Asp) c.655+2515A>G (n.655+2515A>G) c.1168-756A>G (n.1168-756A>G) c.2431A>G (p.Asn811Asp) c.2494A>G (p.Asn832Asp) c.2482A>G (p.Asn828Asp) | |
2 | g.144398684T>G | CA348708136 | ZEB2 | c.*2352A>C (n.*2352A>C) c.1726A>C (p.Asn576His) c.2503A>C (p.Asn835His) n.2472A>C c.2167A>C (p.Asn723His) c.2578A>C (p.Asn860His) c.*2220A>C (n.*2220A>C) n.2603A>C c.34A>C (p.Asn12His) c.2500A>C (p.Asn834His) c.655+2515A>C (n.655+2515A>C) c.1168-756A>C (n.1168-756A>C) c.2431A>C (p.Asn811His) c.2494A>C (p.Asn832His) c.2482A>C (p.Asn828His) | |
2 | g.144398685C>A | CA57555025 | ZEB2 | c.*2351G>T (n.*2351G>T) c.1725G>T (p.Lys575Asn) c.2502G>T (p.Lys834Asn) n.2471G>T c.2166G>T (p.Lys722Asn) c.2577G>T (p.Lys859Asn) c.*2219G>T (n.*2219G>T) n.2602G>T c.33G>T (p.Lys11Asn) c.2499G>T (p.Lys833Asn) c.655+2514G>T (n.655+2514G>T) c.1168-757G>T (n.1168-757G>T) c.2430G>T (p.Lys810Asn) c.2493G>T (p.Lys831Asn) c.2481G>T (p.Lys827Asn) | dbSNP COSMIC |
2 | g.144398685C= | CA1294884989 | ZEB2 | c.*2351G= (n.*2351G=) c.1725G= (p.Lys575=) c.2502G= (p.Lys834=) n.2471G= c.2166G= (p.Lys722=) c.2577G= (p.Lys859=) c.*2219G= (n.*2219G=) n.2602G= c.33G= (p.Lys11=) c.2499G= (p.Lys833=) c.655+2514G= (n.655+2514G=) c.1168-757G= (n.1168-757G=) c.2430G= (p.Lys810=) c.2493G= (p.Lys831=) c.2481G= (p.Lys827=) | |
2 | g.144398685C>G | CA348708137 | ZEB2 | c.*2351G>C (n.*2351G>C) c.1725G>C (p.Lys575Asn) c.2502G>C (p.Lys834Asn) n.2471G>C c.2166G>C (p.Lys722Asn) c.2577G>C (p.Lys859Asn) c.*2219G>C (n.*2219G>C) n.2602G>C c.33G>C (p.Lys11Asn) c.2499G>C (p.Lys833Asn) c.655+2514G>C (n.655+2514G>C) c.1168-757G>C (n.1168-757G>C) c.2430G>C (p.Lys810Asn) c.2493G>C (p.Lys831Asn) c.2481G>C (p.Lys827Asn) | |
2 | g.144398685C>T | CA429445725 | ZEB2 | c.*2351G>A (n.*2351G>A) c.1725G>A (p.Lys575=) c.2502G>A (p.Lys834=) n.2471G>A c.2166G>A (p.Lys722=) c.2577G>A (p.Lys859=) c.*2219G>A (n.*2219G>A) n.2602G>A c.33G>A (p.Lys11=) c.2499G>A (p.Lys833=) c.655+2514G>A (n.655+2514G>A) c.1168-757G>A (n.1168-757G>A) c.2430G>A (p.Lys810=) c.2493G>A (p.Lys831=) c.2481G>A (p.Lys827=) | |
2 | g.144398685_144398686delinsCT | CA1294884990 | ZEB2 | c.*2350_*2351delinsAG (n.*2350_*2351delinsAG) c.1724_1725delinsAG (p.Lys575=) c.2501_2502delinsAG (p.Lys834=) n.2470_2471delinsAG c.2165_2166delinsAG (p.Lys722=) c.2576_2577delinsAG (p.Lys859=) c.*2218_*2219delinsAG (n.*2218_*2219delinsAG) n.2601_2602delinsAG c.32_33delinsAG (p.Lys11=) c.2498_2499delinsAG (p.Lys833=) c.655+2513_655+2514delinsAG (n.655+2513_655+2514delinsAG) c.1168-758_1168-757delinsAG (n.1168-758_1168-757delinsAG) c.2429_2430delinsAG (p.Lys810=) c.2492_2493delinsAG (p.Lys831=) c.2480_2481delinsAG (p.Lys827=) | |
2 | g.144398686T>A | CA348708138 | ZEB2 | c.*2350A>T (n.*2350A>T) c.1724A>T (p.Lys575Met) c.2501A>T (p.Lys834Met) n.2470A>T c.2165A>T (p.Lys722Met) c.2576A>T (p.Lys859Met) c.*2218A>T (n.*2218A>T) n.2601A>T c.32A>T (p.Lys11Met) c.2498A>T (p.Lys833Met) c.655+2513A>T (n.655+2513A>T) c.1168-758A>T (n.1168-758A>T) c.2429A>T (p.Lys810Met) c.2492A>T (p.Lys831Met) c.2480A>T (p.Lys827Met) | |
2 | g.144398686T>C | CA348708139 | ZEB2 | c.*2350A>G (n.*2350A>G) c.1724A>G (p.Lys575Arg) c.2501A>G (p.Lys834Arg) n.2470A>G c.2165A>G (p.Lys722Arg) c.2576A>G (p.Lys859Arg) c.*2218A>G (n.*2218A>G) n.2601A>G c.32A>G (p.Lys11Arg) c.2498A>G (p.Lys833Arg) c.655+2513A>G (n.655+2513A>G) c.1168-758A>G (n.1168-758A>G) c.2429A>G (p.Lys810Arg) c.2492A>G (p.Lys831Arg) c.2480A>G (p.Lys827Arg) | |
2 | g.144398686T>G | CA348708140 | ZEB2 | c.*2350A>C (n.*2350A>C) c.1724A>C (p.Lys575Thr) c.2501A>C (p.Lys834Thr) n.2470A>C c.2165A>C (p.Lys722Thr) c.2576A>C (p.Lys859Thr) c.*2218A>C (n.*2218A>C) n.2601A>C c.32A>C (p.Lys11Thr) c.2498A>C (p.Lys833Thr) c.655+2513A>C (n.655+2513A>C) c.1168-758A>C (n.1168-758A>C) c.2429A>C (p.Lys810Thr) c.2492A>C (p.Lys831Thr) c.2480A>C (p.Lys827Thr) | |
2 | g.144398688del | CA272826 | ZEB2 | c.*2350del (n.*2350del) c.1724del (p.Lys575ArgfsTer11) c.2501del (p.Lys834ArgfsTer11) n.2470del c.2165del (p.Lys722ArgfsTer11) c.2576del (p.Lys859ArgfsTer11) c.*2218del (n.*2218del) n.2601del c.32del (p.Lys11ArgfsTer11) c.2498del (p.Lys833ArgfsTer11) c.655+2513del (n.655+2513del) c.1168-758del (n.1168-758del) c.2429del (p.Lys810ArgfsTer11) c.2492del (p.Lys831ArgfsTer11) c.2480del (p.Lys827ArgfsTer11) | ClinVar dbSNP |
2 | g.144398687T>A | CA348708141 | ZEB2 | c.*2349A>T (n.*2349A>T) c.1723A>T (p.Lys575Ter) c.2500A>T (p.Lys834Ter) n.2469A>T c.2164A>T (p.Lys722Ter) c.2575A>T (p.Lys859Ter) c.*2217A>T (n.*2217A>T) n.2600A>T c.31A>T (p.Lys11Ter) c.2497A>T (p.Lys833Ter) c.655+2512A>T (n.655+2512A>T) c.1168-759A>T (n.1168-759A>T) c.2428A>T (p.Lys810Ter) c.2491A>T (p.Lys831Ter) c.2479A>T (p.Lys827Ter) | |
2 | g.144398687T>C | CA348708143 | ZEB2 | c.*2349A>G (n.*2349A>G) c.1723A>G (p.Lys575Glu) c.2500A>G (p.Lys834Glu) n.2469A>G c.2164A>G (p.Lys722Glu) c.2575A>G (p.Lys859Glu) c.*2217A>G (n.*2217A>G) n.2600A>G c.31A>G (p.Lys11Glu) c.2497A>G (p.Lys833Glu) c.655+2512A>G (n.655+2512A>G) c.1168-759A>G (n.1168-759A>G) c.2428A>G (p.Lys810Glu) c.2491A>G (p.Lys831Glu) c.2479A>G (p.Lys827Glu) | gnomAD v4 |
2 | g.144398687T>G | CA348708142 | ZEB2 | c.*2349A>C (n.*2349A>C) c.1723A>C (p.Lys575Gln) c.2500A>C (p.Lys834Gln) n.2469A>C c.2164A>C (p.Lys722Gln) c.2575A>C (p.Lys859Gln) c.*2217A>C (n.*2217A>C) n.2600A>C c.31A>C (p.Lys11Gln) c.2497A>C (p.Lys833Gln) c.655+2512A>C (n.655+2512A>C) c.1168-759A>C (n.1168-759A>C) c.2428A>C (p.Lys810Gln) c.2491A>C (p.Lys831Gln) c.2479A>C (p.Lys827Gln) | |
2 | g.144398688T>A | CA429445730 | ZEB2 | c.*2348A>T (n.*2348A>T) c.1722A>T (p.Thr574=) c.2499A>T (p.Thr833=) n.2468A>T c.2163A>T (p.Thr721=) c.2574A>T (p.Thr858=) c.*2216A>T (n.*2216A>T) n.2599A>T c.30A>T (p.Thr10=) c.2496A>T (p.Thr832=) c.655+2511A>T (n.655+2511A>T) c.1168-760A>T (n.1168-760A>T) c.2427A>T (p.Thr809=) c.2490A>T (p.Thr830=) c.2478A>T (p.Thr826=) | |
2 | g.144398688T>C | CA429445731 | ZEB2 | c.*2348A>G (n.*2348A>G) c.1722A>G (p.Thr574=) c.2499A>G (p.Thr833=) n.2468A>G c.2163A>G (p.Thr721=) c.2574A>G (p.Thr858=) c.*2216A>G (n.*2216A>G) n.2599A>G c.30A>G (p.Thr10=) c.2496A>G (p.Thr832=) c.655+2511A>G (n.655+2511A>G) c.1168-760A>G (n.1168-760A>G) c.2427A>G (p.Thr809=) c.2490A>G (p.Thr830=) c.2478A>G (p.Thr826=) | |
2 | g.144398688T>G | CA429445732 | ZEB2 | c.*2348A>C (n.*2348A>C) c.1722A>C (p.Thr574=) c.2499A>C (p.Thr833=) n.2468A>C c.2163A>C (p.Thr721=) c.2574A>C (p.Thr858=) c.*2216A>C (n.*2216A>C) n.2599A>C c.30A>C (p.Thr10=) c.2496A>C (p.Thr832=) c.655+2511A>C (n.655+2511A>C) c.1168-760A>C (n.1168-760A>C) c.2427A>C (p.Thr809=) c.2490A>C (p.Thr830=) c.2478A>C (p.Thr826=) | |
2 | g.144398689G>A | CA348708144 | ZEB2 | c.*2347C>T (n.*2347C>T) c.1721C>T (p.Thr574Ile) c.2498C>T (p.Thr833Ile) n.2467C>T c.2162C>T (p.Thr721Ile) c.2573C>T (p.Thr858Ile) c.*2215C>T (n.*2215C>T) n.2598C>T c.29C>T (p.Thr10Ile) c.2495C>T (p.Thr832Ile) c.655+2510C>T (n.655+2510C>T) c.1168-761C>T (n.1168-761C>T) c.2426C>T (p.Thr809Ile) c.2489C>T (p.Thr830Ile) c.2477C>T (p.Thr826Ile) | |
2 | g.144398689G>C | CA348708145 | ZEB2 | c.*2347C>G (n.*2347C>G) c.1721C>G (p.Thr574Arg) c.2498C>G (p.Thr833Arg) n.2467C>G c.2162C>G (p.Thr721Arg) c.2573C>G (p.Thr858Arg) c.*2215C>G (n.*2215C>G) n.2598C>G c.29C>G (p.Thr10Arg) c.2495C>G (p.Thr832Arg) c.655+2510C>G (n.655+2510C>G) c.1168-761C>G (n.1168-761C>G) c.2426C>G (p.Thr809Arg) c.2489C>G (p.Thr830Arg) c.2477C>G (p.Thr826Arg) | |
2 | g.144398689G>T | CA348708146 | ZEB2 | c.*2347C>A (n.*2347C>A) c.1721C>A (p.Thr574Lys) c.2498C>A (p.Thr833Lys) n.2467C>A c.2162C>A (p.Thr721Lys) c.2573C>A (p.Thr858Lys) c.*2215C>A (n.*2215C>A) n.2598C>A c.29C>A (p.Thr10Lys) c.2495C>A (p.Thr832Lys) c.655+2510C>A (n.655+2510C>A) c.1168-761C>A (n.1168-761C>A) c.2426C>A (p.Thr809Lys) c.2489C>A (p.Thr830Lys) c.2477C>A (p.Thr826Lys) | |
2 | g.144398690T>A | CA348708147 | ZEB2 | c.*2346A>T (n.*2346A>T) c.1720A>T (p.Thr574Ser) c.2497A>T (p.Thr833Ser) n.2466A>T c.2161A>T (p.Thr721Ser) c.2572A>T (p.Thr858Ser) c.*2214A>T (n.*2214A>T) n.2597A>T c.28A>T (p.Thr10Ser) c.2494A>T (p.Thr832Ser) c.655+2509A>T (n.655+2509A>T) c.1168-762A>T (n.1168-762A>T) c.2425A>T (p.Thr809Ser) c.2488A>T (p.Thr830Ser) c.2476A>T (p.Thr826Ser) | |
2 | g.144398690T>C | CA348708148 | ZEB2 | c.*2346A>G (n.*2346A>G) c.1720A>G (p.Thr574Ala) c.2497A>G (p.Thr833Ala) n.2466A>G c.2161A>G (p.Thr721Ala) c.2572A>G (p.Thr858Ala) c.*2214A>G (n.*2214A>G) n.2597A>G c.28A>G (p.Thr10Ala) c.2494A>G (p.Thr832Ala) c.655+2509A>G (n.655+2509A>G) c.1168-762A>G (n.1168-762A>G) c.2425A>G (p.Thr809Ala) c.2488A>G (p.Thr830Ala) c.2476A>G (p.Thr826Ala) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.144398690T>G | CA348708149 | ZEB2 | c.*2346A>C (n.*2346A>C) c.1720A>C (p.Thr574Pro) c.2497A>C (p.Thr833Pro) n.2466A>C c.2161A>C (p.Thr721Pro) c.2572A>C (p.Thr858Pro) c.*2214A>C (n.*2214A>C) n.2597A>C c.28A>C (p.Thr10Pro) c.2494A>C (p.Thr832Pro) c.655+2509A>C (n.655+2509A>C) c.1168-762A>C (n.1168-762A>C) c.2425A>C (p.Thr809Pro) c.2488A>C (p.Thr830Pro) c.2476A>C (p.Thr826Pro) | |
2 | g.144398690T= | CA1294884991 | ZEB2 | c.*2346A= (n.*2346A=) c.1720A= (p.Thr574=) c.2497A= (p.Thr833=) n.2466A= c.2161A= (p.Thr721=) c.2572A= (p.Thr858=) c.*2214A= (n.*2214A=) n.2597A= c.28A= (p.Thr10=) c.2494A= (p.Thr832=) c.655+2509A= (n.655+2509A=) c.1168-762A= (n.1168-762A=) c.2425A= (p.Thr809=) c.2488A= (p.Thr830=) c.2476A= (p.Thr826=) | |
2 | g.144398691G>A | CA429445736 | ZEB2 | c.*2345C>T (n.*2345C>T) c.1719C>T (p.Ala573=) c.2496C>T (p.Ala832=) n.2465C>T c.2160C>T (p.Ala720=) c.2571C>T (p.Ala857=) c.*2213C>T (n.*2213C>T) n.2596C>T c.27C>T (p.Ala9=) c.2493C>T (p.Ala831=) c.655+2508C>T (n.655+2508C>T) c.1168-763C>T (n.1168-763C>T) c.2424C>T (p.Ala808=) c.2487C>T (p.Ala829=) c.2475C>T (p.Ala825=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.144398691G>C | CA429445738 | ZEB2 | c.*2345C>G (n.*2345C>G) c.1719C>G (p.Ala573=) c.2496C>G (p.Ala832=) n.2465C>G c.2160C>G (p.Ala720=) c.2571C>G (p.Ala857=) c.*2213C>G (n.*2213C>G) n.2596C>G c.27C>G (p.Ala9=) c.2493C>G (p.Ala831=) c.655+2508C>G (n.655+2508C>G) c.1168-763C>G (n.1168-763C>G) c.2424C>G (p.Ala808=) c.2487C>G (p.Ala829=) c.2475C>G (p.Ala825=) | |
2 | g.144398691G= | CA1294884992 | ZEB2 | c.*2345C= (n.*2345C=) c.1719C= (p.Ala573=) c.2496C= (p.Ala832=) n.2465C= c.2160C= (p.Ala720=) c.2571C= (p.Ala857=) c.*2213C= (n.*2213C=) n.2596C= c.27C= (p.Ala9=) c.2493C= (p.Ala831=) c.655+2508C= (n.655+2508C=) c.1168-763C= (n.1168-763C=) c.2424C= (p.Ala808=) c.2487C= (p.Ala829=) c.2475C= (p.Ala825=) | |
2 | g.144398691G>T | CA429445740 | ZEB2 | c.*2345C>A (n.*2345C>A) c.1719C>A (p.Ala573=) c.2496C>A (p.Ala832=) n.2465C>A c.2160C>A (p.Ala720=) c.2571C>A (p.Ala857=) c.*2213C>A (n.*2213C>A) n.2596C>A c.27C>A (p.Ala9=) c.2493C>A (p.Ala831=) c.655+2508C>A (n.655+2508C>A) c.1168-763C>A (n.1168-763C>A) c.2424C>A (p.Ala808=) c.2487C>A (p.Ala829=) c.2475C>A (p.Ala825=) | |
2 | g.144398692G>A | CA348708150 | ZEB2 | c.*2344C>T (n.*2344C>T) c.1718C>T (p.Ala573Val) c.2495C>T (p.Ala832Val) n.2464C>T c.2159C>T (p.Ala720Val) c.2570C>T (p.Ala857Val) c.*2212C>T (n.*2212C>T) n.2595C>T c.26C>T (p.Ala9Val) c.2492C>T (p.Ala831Val) c.655+2507C>T (n.655+2507C>T) c.1168-764C>T (n.1168-764C>T) c.2423C>T (p.Ala808Val) c.2486C>T (p.Ala829Val) c.2474C>T (p.Ala825Val) | ClinVar dbSNP gnomAD v4 |
2 | g.144398692G>C | CA348708151 | ZEB2 | c.*2344C>G (n.*2344C>G) c.1718C>G (p.Ala573Gly) c.2495C>G (p.Ala832Gly) n.2464C>G c.2159C>G (p.Ala720Gly) c.2570C>G (p.Ala857Gly) c.*2212C>G (n.*2212C>G) n.2595C>G c.26C>G (p.Ala9Gly) c.2492C>G (p.Ala831Gly) c.655+2507C>G (n.655+2507C>G) c.1168-764C>G (n.1168-764C>G) c.2423C>G (p.Ala808Gly) c.2486C>G (p.Ala829Gly) c.2474C>G (p.Ala825Gly) | |
2 | g.144398692G= | CA1294884993 | ZEB2 | c.*2344C= (n.*2344C=) c.1718C= (p.Ala573=) c.2495C= (p.Ala832=) n.2464C= c.2159C= (p.Ala720=) c.2570C= (p.Ala857=) c.*2212C= (n.*2212C=) n.2595C= c.26C= (p.Ala9=) c.2492C= (p.Ala831=) c.655+2507C= (n.655+2507C=) c.1168-764C= (n.1168-764C=) c.2423C= (p.Ala808=) c.2486C= (p.Ala829=) c.2474C= (p.Ala825=) | |
2 | g.144398692G>T | CA297570 | ZEB2 | c.*2344C>A (n.*2344C>A) c.1718C>A (p.Ala573Asp) c.2495C>A (p.Ala832Asp) n.2464C>A c.2159C>A (p.Ala720Asp) c.2570C>A (p.Ala857Asp) c.*2212C>A (n.*2212C>A) n.2595C>A c.26C>A (p.Ala9Asp) c.2492C>A (p.Ala831Asp) c.655+2507C>A (n.655+2507C>A) c.1168-764C>A (n.1168-764C>A) c.2423C>A (p.Ala808Asp) c.2486C>A (p.Ala829Asp) c.2474C>A (p.Ala825Asp) | ClinVar dbSNP gnomAD v4 |
2 | g.144398693C>A | CA348708153 | ZEB2 | c.*2343G>T (n.*2343G>T) c.1717G>T (p.Ala573Ser) c.2494G>T (p.Ala832Ser) n.2463G>T c.2158G>T (p.Ala720Ser) c.2569G>T (p.Ala857Ser) c.*2211G>T (n.*2211G>T) n.2594G>T c.25G>T (p.Ala9Ser) c.2491G>T (p.Ala831Ser) c.655+2506G>T (n.655+2506G>T) c.1168-765G>T (n.1168-765G>T) c.2422G>T (p.Ala808Ser) c.2485G>T (p.Ala829Ser) c.2473G>T (p.Ala825Ser) | |
2 | g.144398693C= | CA1294884994 | ZEB2 | c.*2343G= (n.*2343G=) c.1717G= (p.Ala573=) c.2494G= (p.Ala832=) n.2463G= c.2158G= (p.Ala720=) c.2569G= (p.Ala857=) c.*2211G= (n.*2211G=) n.2594G= c.25G= (p.Ala9=) c.2491G= (p.Ala831=) c.655+2506G= (n.655+2506G=) c.1168-765G= (n.1168-765G=) c.2422G= (p.Ala808=) c.2485G= (p.Ala829=) c.2473G= (p.Ala825=) | |
2 | g.144398693C>G | CA348708154 | ZEB2 | c.*2343G>C (n.*2343G>C) c.1717G>C (p.Ala573Pro) c.2494G>C (p.Ala832Pro) n.2463G>C c.2158G>C (p.Ala720Pro) c.2569G>C (p.Ala857Pro) c.*2211G>C (n.*2211G>C) n.2594G>C c.25G>C (p.Ala9Pro) c.2491G>C (p.Ala831Pro) c.655+2506G>C (n.655+2506G>C) c.1168-765G>C (n.1168-765G>C) c.2422G>C (p.Ala808Pro) c.2485G>C (p.Ala829Pro) c.2473G>C (p.Ala825Pro) | |
2 | g.144398693C>T | CA348708152 | ZEB2 | c.*2343G>A (n.*2343G>A) c.1717G>A (p.Ala573Thr) c.2494G>A (p.Ala832Thr) n.2463G>A c.2158G>A (p.Ala720Thr) c.2569G>A (p.Ala857Thr) c.*2211G>A (n.*2211G>A) n.2594G>A c.25G>A (p.Ala9Thr) c.2491G>A (p.Ala831Thr) c.655+2506G>A (n.655+2506G>A) c.1168-765G>A (n.1168-765G>A) c.2422G>A (p.Ala808Thr) c.2485G>A (p.Ala829Thr) c.2473G>A (p.Ala825Thr) | ClinVar dbSNP gnomAD v4 |
2 | g.144398694T>A | CA429445745 | ZEB2 | c.*2342A>T (n.*2342A>T) c.1716A>T (p.Ile572=) c.2493A>T (p.Ile831=) n.2462A>T c.2157A>T (p.Ile719=) c.2568A>T (p.Ile856=) c.*2210A>T (n.*2210A>T) n.2593A>T c.24A>T (p.Ile8=) c.2490A>T (p.Ile830=) c.655+2505A>T (n.655+2505A>T) c.1168-766A>T (n.1168-766A>T) c.2421A>T (p.Ile807=) c.2484A>T (p.Ile828=) c.2472A>T (p.Ile824=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.144398694T>C | CA348708155 | ZEB2 | c.*2342A>G (n.*2342A>G) c.1716A>G (p.Ile572Met) c.2493A>G (p.Ile831Met) n.2462A>G c.2157A>G (p.Ile719Met) c.2568A>G (p.Ile856Met) c.*2210A>G (n.*2210A>G) n.2593A>G c.24A>G (p.Ile8Met) c.2490A>G (p.Ile830Met) c.655+2505A>G (n.655+2505A>G) c.1168-766A>G (n.1168-766A>G) c.2421A>G (p.Ile807Met) c.2484A>G (p.Ile828Met) c.2472A>G (p.Ile824Met) | |
2 | g.144398694T>G | CA429445747 | ZEB2 | c.*2342A>C (n.*2342A>C) c.1716A>C (p.Ile572=) c.2493A>C (p.Ile831=) n.2462A>C c.2157A>C (p.Ile719=) c.2568A>C (p.Ile856=) c.*2210A>C (n.*2210A>C) n.2593A>C c.24A>C (p.Ile8=) c.2490A>C (p.Ile830=) c.655+2505A>C (n.655+2505A>C) c.1168-766A>C (n.1168-766A>C) c.2421A>C (p.Ile807=) c.2484A>C (p.Ile828=) c.2472A>C (p.Ile824=) | |
2 | g.144398694T= | CA1294884996 | ZEB2 | c.*2342A= (n.*2342A=) c.1716A= (p.Ile572=) c.2493A= (p.Ile831=) n.2462A= c.2157A= (p.Ile719=) c.2568A= (p.Ile856=) c.*2210A= (n.*2210A=) n.2593A= c.24A= (p.Ile8=) c.2490A= (p.Ile830=) c.655+2505A= (n.655+2505A=) c.1168-766A= (n.1168-766A=) c.2421A= (p.Ile807=) c.2484A= (p.Ile828=) c.2472A= (p.Ile824=) | |
2 | g.144398694_144398697delinsTATA | CA1294884995 | ZEB2 | c.*2339_*2342delinsTATA (n.*2339_*2342delinsTATA) c.1713_1716delinsTATA (p.Ile571=) c.2490_2493delinsTATA (p.Ile830=) n.2459_2462delinsTATA c.2154_2157delinsTATA (p.Ile718=) c.2565_2568delinsTATA (p.Ile855=) c.*2207_*2210delinsTATA (n.*2207_*2210delinsTATA) n.2590_2593delinsTATA c.21_24delinsTATA (p.Ile7=) c.2487_2490delinsTATA (p.Ile829=) c.655+2502_655+2505delinsTATA (n.655+2502_655+2505delinsTATA) c.1168-769_1168-766delinsTATA (n.1168-769_1168-766delinsTATA) c.2418_2421delinsTATA (p.Ile806=) c.2481_2484delinsTATA (p.Ile827=) c.2469_2472delinsTATA (p.Ile823=) | |
2 | g.144398695A= | CA1294884997 | ZEB2 | c.*2341T= (n.*2341T=) c.1715T= (p.Ile572=) c.2492T= (p.Ile831=) n.2461T= c.2156T= (p.Ile719=) c.2567T= (p.Ile856=) c.*2209T= (n.*2209T=) n.2592T= c.23T= (p.Ile8=) c.2489T= (p.Ile830=) c.655+2504T= (n.655+2504T=) c.1168-767T= (n.1168-767T=) c.2420T= (p.Ile807=) c.2483T= (p.Ile828=) c.2471T= (p.Ile824=) | |
2 | g.144398695A>C | CA348708156 | ZEB2 | c.*2341T>G (n.*2341T>G) c.1715T>G (p.Ile572Arg) c.2492T>G (p.Ile831Arg) n.2461T>G c.2156T>G (p.Ile719Arg) c.2567T>G (p.Ile856Arg) c.*2209T>G (n.*2209T>G) n.2592T>G c.23T>G (p.Ile8Arg) c.2489T>G (p.Ile830Arg) c.655+2504T>G (n.655+2504T>G) c.1168-767T>G (n.1168-767T>G) c.2420T>G (p.Ile807Arg) c.2483T>G (p.Ile828Arg) c.2471T>G (p.Ile824Arg) | |
2 | g.144398695A>G | CA1898242 | ZEB2 | c.*2341T>C (n.*2341T>C) c.1715T>C (p.Ile572Thr) c.2492T>C (p.Ile831Thr) n.2461T>C c.2156T>C (p.Ile719Thr) c.2567T>C (p.Ile856Thr) c.*2209T>C (n.*2209T>C) n.2592T>C c.23T>C (p.Ile8Thr) c.2489T>C (p.Ile830Thr) c.655+2504T>C (n.655+2504T>C) c.1168-767T>C (n.1168-767T>C) c.2420T>C (p.Ile807Thr) c.2483T>C (p.Ile828Thr) c.2471T>C (p.Ile824Thr) | dbSNP ExAC gnomAD v2 |
2 | g.144398695A>T | CA348708157 | ZEB2 | c.*2341T>A (n.*2341T>A) c.1715T>A (p.Ile572Lys) c.2492T>A (p.Ile831Lys) n.2461T>A c.2156T>A (p.Ile719Lys) c.2567T>A (p.Ile856Lys) c.*2209T>A (n.*2209T>A) n.2592T>A c.23T>A (p.Ile8Lys) c.2489T>A (p.Ile830Lys) c.655+2504T>A (n.655+2504T>A) c.1168-767T>A (n.1168-767T>A) c.2420T>A (p.Ile807Lys) c.2483T>A (p.Ile828Lys) c.2471T>A (p.Ile824Lys) | |
2 | g.144398698_144398700del | CA537029219 | ZEB2 | c.*2339_*2341del (n.*2339_*2341del) c.1713_1715del (p.Ile572del) c.2490_2492del (p.Ile831del) n.2459_2461del c.2154_2156del (p.Ile719del) c.2565_2567del (p.Ile856del) c.*2207_*2209del (n.*2207_*2209del) n.2590_2592del c.21_23del (p.Ile8del) c.2487_2489del (p.Ile830del) c.655+2502_655+2504del (n.655+2502_655+2504del) c.1168-769_1168-767del (n.1168-769_1168-767del) c.2418_2420del (p.Ile807del) c.2481_2483del (p.Ile828del) c.2469_2471del (p.Ile824del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.144398696T>A | CA348708158 | ZEB2 | c.*2340A>T (n.*2340A>T) c.1714A>T (p.Ile572Leu) c.2491A>T (p.Ile831Leu) n.2460A>T c.2155A>T (p.Ile719Leu) c.2566A>T (p.Ile856Leu) c.*2208A>T (n.*2208A>T) n.2591A>T c.22A>T (p.Ile8Leu) c.2488A>T (p.Ile830Leu) c.655+2503A>T (n.655+2503A>T) c.1168-768A>T (n.1168-768A>T) c.2419A>T (p.Ile807Leu) c.2482A>T (p.Ile828Leu) c.2470A>T (p.Ile824Leu) | |
2 | g.144398696T>C | CA348708159 | ZEB2 | c.*2340A>G (n.*2340A>G) c.1714A>G (p.Ile572Val) c.2491A>G (p.Ile831Val) n.2460A>G c.2155A>G (p.Ile719Val) c.2566A>G (p.Ile856Val) c.*2208A>G (n.*2208A>G) n.2591A>G c.22A>G (p.Ile8Val) c.2488A>G (p.Ile830Val) c.655+2503A>G (n.655+2503A>G) c.1168-768A>G (n.1168-768A>G) c.2419A>G (p.Ile807Val) c.2482A>G (p.Ile828Val) c.2470A>G (p.Ile824Val) | gnomAD v4 |
2 | g.144398696T>G | CA348708160 | ZEB2 | c.*2340A>C (n.*2340A>C) c.1714A>C (p.Ile572Leu) c.2491A>C (p.Ile831Leu) n.2460A>C c.2155A>C (p.Ile719Leu) c.2566A>C (p.Ile856Leu) c.*2208A>C (n.*2208A>C) n.2591A>C c.22A>C (p.Ile8Leu) c.2488A>C (p.Ile830Leu) c.655+2503A>C (n.655+2503A>C) c.1168-768A>C (n.1168-768A>C) c.2419A>C (p.Ile807Leu) c.2482A>C (p.Ile828Leu) c.2470A>C (p.Ile824Leu) | |
2 | g.144398697A= | CA1294884998 | ZEB2 | c.*2339T= (n.*2339T=) c.1713T= (p.Ile571=) c.2490T= (p.Ile830=) n.2459T= c.2154T= (p.Ile718=) c.2565T= (p.Ile855=) c.*2207T= (n.*2207T=) n.2590T= c.21T= (p.Ile7=) c.2487T= (p.Ile829=) c.655+2502T= (n.655+2502T=) c.1168-769T= (n.1168-769T=) c.2418T= (p.Ile806=) c.2481T= (p.Ile827=) c.2469T= (p.Ile823=) | |
2 | g.144398697A>C | CA348708161 | ZEB2 | c.*2339T>G (n.*2339T>G) c.1713T>G (p.Ile571Met) c.2490T>G (p.Ile830Met) n.2459T>G c.2154T>G (p.Ile718Met) c.2565T>G (p.Ile855Met) c.*2207T>G (n.*2207T>G) n.2590T>G c.21T>G (p.Ile7Met) c.2487T>G (p.Ile829Met) c.655+2502T>G (n.655+2502T>G) c.1168-769T>G (n.1168-769T>G) c.2418T>G (p.Ile806Met) c.2481T>G (p.Ile827Met) c.2469T>G (p.Ile823Met) | |
2 | g.144398697A>G | CA1898243 | ZEB2 | c.*2339T>C (n.*2339T>C) c.1713T>C (p.Ile571=) c.2490T>C (p.Ile830=) n.2459T>C c.2154T>C (p.Ile718=) c.2565T>C (p.Ile855=) c.*2207T>C (n.*2207T>C) n.2590T>C c.21T>C (p.Ile7=) c.2487T>C (p.Ile829=) c.655+2502T>C (n.655+2502T>C) c.1168-769T>C (n.1168-769T>C) c.2418T>C (p.Ile806=) c.2481T>C (p.Ile827=) c.2469T>C (p.Ile823=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.144398697A>T | CA429445765 | ZEB2 | c.*2339T>A (n.*2339T>A) c.1713T>A (p.Ile571=) c.2490T>A (p.Ile830=) n.2459T>A c.2154T>A (p.Ile718=) c.2565T>A (p.Ile855=) c.*2207T>A (n.*2207T>A) n.2590T>A c.21T>A (p.Ile7=) c.2487T>A (p.Ile829=) c.655+2502T>A (n.655+2502T>A) c.1168-769T>A (n.1168-769T>A) c.2418T>A (p.Ile806=) c.2481T>A (p.Ile827=) c.2469T>A (p.Ile823=) | |
2 | g.144398698A>C | CA348708162 | ZEB2 | c.*2338T>G (n.*2338T>G) c.1712T>G (p.Ile571Ser) c.2489T>G (p.Ile830Ser) n.2458T>G c.2153T>G (p.Ile718Ser) c.2564T>G (p.Ile855Ser) c.*2206T>G (n.*2206T>G) n.2589T>G c.20T>G (p.Ile7Ser) c.2486T>G (p.Ile829Ser) c.655+2501T>G (n.655+2501T>G) c.1168-770T>G (n.1168-770T>G) c.2417T>G (p.Ile806Ser) c.2480T>G (p.Ile827Ser) c.2468T>G (p.Ile823Ser) | |
2 | g.144398698A>G | CA348708163 | ZEB2 | c.*2338T>C (n.*2338T>C) c.1712T>C (p.Ile571Thr) c.2489T>C (p.Ile830Thr) n.2458T>C c.2153T>C (p.Ile718Thr) c.2564T>C (p.Ile855Thr) c.*2206T>C (n.*2206T>C) n.2589T>C c.20T>C (p.Ile7Thr) c.2486T>C (p.Ile829Thr) c.655+2501T>C (n.655+2501T>C) c.1168-770T>C (n.1168-770T>C) c.2417T>C (p.Ile806Thr) c.2480T>C (p.Ile827Thr) c.2468T>C (p.Ile823Thr) | |
2 | g.144398698A>T | CA348708164 | ZEB2 | c.*2338T>A (n.*2338T>A) c.1712T>A (p.Ile571Asn) c.2489T>A (p.Ile830Asn) n.2458T>A c.2153T>A (p.Ile718Asn) c.2564T>A (p.Ile855Asn) c.*2206T>A (n.*2206T>A) n.2589T>A c.20T>A (p.Ile7Asn) c.2486T>A (p.Ile829Asn) c.655+2501T>A (n.655+2501T>A) c.1168-770T>A (n.1168-770T>A) c.2417T>A (p.Ile806Asn) c.2480T>A (p.Ile827Asn) c.2468T>A (p.Ile823Asn) | |
2 | g.144398699_144398700del | CA2586970087 | ZEB2 | c.*2337_*2338del (n.*2337_*2338del) c.1711_1712del (p.Ile571TyrfsTer10) c.2488_2489del (p.Ile830TyrfsTer10) n.2457_2458del c.2152_2153del (p.Ile718TyrfsTer10) c.2563_2564del (p.Ile855TyrfsTer10) c.*2205_*2206del (n.*2205_*2206del) n.2588_2589del c.19_20del (p.Ile7TyrfsTer10) c.2485_2486del (p.Ile829TyrfsTer10) c.655+2500_655+2501del (n.655+2500_655+2501del) c.1168-771_1168-770del (n.1168-771_1168-770del) c.2416_2417del (p.Ile806TyrfsTer10) c.2479_2480del (p.Ile827TyrfsTer10) c.2467_2468del (p.Ile823TyrfsTer10) | |
2 | g.144398699T>A | CA348708167 | ZEB2 | c.*2337A>T (n.*2337A>T) c.1711A>T (p.Ile571Phe) c.2488A>T (p.Ile830Phe) n.2457A>T c.2152A>T (p.Ile718Phe) c.2563A>T (p.Ile855Phe) c.*2205A>T (n.*2205A>T) n.2588A>T c.19A>T (p.Ile7Phe) c.2485A>T (p.Ile829Phe) c.655+2500A>T (n.655+2500A>T) c.1168-771A>T (n.1168-771A>T) c.2416A>T (p.Ile806Phe) c.2479A>T (p.Ile827Phe) c.2467A>T (p.Ile823Phe) | |
2 | g.144398699T>C | CA348708165 | ZEB2 | c.*2337A>G (n.*2337A>G) c.1711A>G (p.Ile571Val) c.2488A>G (p.Ile830Val) n.2457A>G c.2152A>G (p.Ile718Val) c.2563A>G (p.Ile855Val) c.*2205A>G (n.*2205A>G) n.2588A>G c.19A>G (p.Ile7Val) c.2485A>G (p.Ile829Val) c.655+2500A>G (n.655+2500A>G) c.1168-771A>G (n.1168-771A>G) c.2416A>G (p.Ile806Val) c.2479A>G (p.Ile827Val) c.2467A>G (p.Ile823Val) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.144398699T>G | CA348708166 | ZEB2 | c.*2337A>C (n.*2337A>C) c.1711A>C (p.Ile571Leu) c.2488A>C (p.Ile830Leu) n.2457A>C c.2152A>C (p.Ile718Leu) c.2563A>C (p.Ile855Leu) c.*2205A>C (n.*2205A>C) n.2588A>C c.19A>C (p.Ile7Leu) c.2485A>C (p.Ile829Leu) c.655+2500A>C (n.655+2500A>C) c.1168-771A>C (n.1168-771A>C) c.2416A>C (p.Ile806Leu) c.2479A>C (p.Ile827Leu) c.2467A>C (p.Ile823Leu) | |
2 | g.144398699T= | CA1294884999 | ZEB2 | c.*2337A= (n.*2337A=) c.1711A= (p.Ile571=) c.2488A= (p.Ile830=) n.2457A= c.2152A= (p.Ile718=) c.2563A= (p.Ile855=) c.*2205A= (n.*2205A=) n.2588A= c.19A= (p.Ile7=) c.2485A= (p.Ile829=) c.655+2500A= (n.655+2500A=) c.1168-771A= (n.1168-771A=) c.2416A= (p.Ile806=) c.2479A= (p.Ile827=) c.2467A= (p.Ile823=) | |
2 | g.144398700A>C | CA348708168 | ZEB2 | c.*2336T>G (n.*2336T>G) c.1710T>G (p.Ser570Arg) c.2487T>G (p.Ser829Arg) n.2456T>G c.2151T>G (p.Ser717Arg) c.2562T>G (p.Ser854Arg) c.*2204T>G (n.*2204T>G) n.2587T>G c.18T>G (p.Ser6Arg) c.2484T>G (p.Ser828Arg) c.655+2499T>G (n.655+2499T>G) c.1168-772T>G (n.1168-772T>G) c.2415T>G (p.Ser805Arg) c.2478T>G (p.Ser826Arg) c.2466T>G (p.Ser822Arg) | |
2 | g.144398700A>G | CA429445773 | ZEB2 | c.*2336T>C (n.*2336T>C) c.1710T>C (p.Ser570=) c.2487T>C (p.Ser829=) n.2456T>C c.2151T>C (p.Ser717=) c.2562T>C (p.Ser854=) c.*2204T>C (n.*2204T>C) n.2587T>C c.18T>C (p.Ser6=) c.2484T>C (p.Ser828=) c.655+2499T>C (n.655+2499T>C) c.1168-772T>C (n.1168-772T>C) c.2415T>C (p.Ser805=) c.2478T>C (p.Ser826=) c.2466T>C (p.Ser822=) | |
2 | g.144398700A>T | CA348708169 | ZEB2 | c.*2336T>A (n.*2336T>A) c.1710T>A (p.Ser570Arg) c.2487T>A (p.Ser829Arg) n.2456T>A c.2151T>A (p.Ser717Arg) c.2562T>A (p.Ser854Arg) c.*2204T>A (n.*2204T>A) n.2587T>A c.18T>A (p.Ser6Arg) c.2484T>A (p.Ser828Arg) c.655+2499T>A (n.655+2499T>A) c.1168-772T>A (n.1168-772T>A) c.2415T>A (p.Ser805Arg) c.2478T>A (p.Ser826Arg) c.2466T>A (p.Ser822Arg) | |
2 | g.144398701C>A | CA348708170 | ZEB2 | c.*2335G>T (n.*2335G>T) c.1709G>T (p.Ser570Ile) c.2486G>T (p.Ser829Ile) n.2455G>T c.2150G>T (p.Ser717Ile) c.2561G>T (p.Ser854Ile) c.*2203G>T (n.*2203G>T) n.2586G>T c.17G>T (p.Ser6Ile) c.2483G>T (p.Ser828Ile) c.655+2498G>T (n.655+2498G>T) c.1168-773G>T (n.1168-773G>T) c.2414G>T (p.Ser805Ile) c.2477G>T (p.Ser826Ile) c.2465G>T (p.Ser822Ile) | |
2 | g.144398701C= | CA1294885000 | ZEB2 | c.*2335G= (n.*2335G=) c.1709G= (p.Ser570=) c.2486G= (p.Ser829=) n.2455G= c.2150G= (p.Ser717=) c.2561G= (p.Ser854=) c.*2203G= (n.*2203G=) n.2586G= c.17G= (p.Ser6=) c.2483G= (p.Ser828=) c.655+2498G= (n.655+2498G=) c.1168-773G= (n.1168-773G=) c.2414G= (p.Ser805=) c.2477G= (p.Ser826=) c.2465G= (p.Ser822=) | |
2 | g.144398701C>G | CA348708171 | ZEB2 | c.*2335G>C (n.*2335G>C) c.1709G>C (p.Ser570Thr) c.2486G>C (p.Ser829Thr) n.2455G>C c.2150G>C (p.Ser717Thr) c.2561G>C (p.Ser854Thr) c.*2203G>C (n.*2203G>C) n.2586G>C c.17G>C (p.Ser6Thr) c.2483G>C (p.Ser828Thr) c.655+2498G>C (n.655+2498G>C) c.1168-773G>C (n.1168-773G>C) c.2414G>C (p.Ser805Thr) c.2477G>C (p.Ser826Thr) c.2465G>C (p.Ser822Thr) | |
2 | g.144398701C>T | CA297609 | ZEB2 | c.*2335G>A (n.*2335G>A) c.1709G>A (p.Ser570Asn) c.2486G>A (p.Ser829Asn) n.2455G>A c.2150G>A (p.Ser717Asn) c.2561G>A (p.Ser854Asn) c.*2203G>A (n.*2203G>A) n.2586G>A c.17G>A (p.Ser6Asn) c.2483G>A (p.Ser828Asn) c.655+2498G>A (n.655+2498G>A) c.1168-773G>A (n.1168-773G>A) c.2414G>A (p.Ser805Asn) c.2477G>A (p.Ser826Asn) c.2465G>A (p.Ser822Asn) | ClinVar dbSNP gnomAD v4 |
2 | g.144398702T>A | CA348708172 | ZEB2 | c.*2334A>T (n.*2334A>T) c.1708A>T (p.Ser570Cys) c.2485A>T (p.Ser829Cys) n.2454A>T c.2149A>T (p.Ser717Cys) c.2560A>T (p.Ser854Cys) c.*2202A>T (n.*2202A>T) n.2585A>T c.16A>T (p.Ser6Cys) c.2482A>T (p.Ser828Cys) c.655+2497A>T (n.655+2497A>T) c.1168-774A>T (n.1168-774A>T) c.2413A>T (p.Ser805Cys) c.2476A>T (p.Ser826Cys) c.2464A>T (p.Ser822Cys) | |
2 | g.144398702T>C | CA348708173 | ZEB2 | c.*2334A>G (n.*2334A>G) c.1708A>G (p.Ser570Gly) c.2485A>G (p.Ser829Gly) n.2454A>G c.2149A>G (p.Ser717Gly) c.2560A>G (p.Ser854Gly) c.*2202A>G (n.*2202A>G) n.2585A>G c.16A>G (p.Ser6Gly) c.2482A>G (p.Ser828Gly) c.655+2497A>G (n.655+2497A>G) c.1168-774A>G (n.1168-774A>G) c.2413A>G (p.Ser805Gly) c.2476A>G (p.Ser826Gly) c.2464A>G (p.Ser822Gly) | gnomAD v4 |
2 | g.144398702T>G | CA348708174 | ZEB2 | c.*2334A>C (n.*2334A>C) c.1708A>C (p.Ser570Arg) c.2485A>C (p.Ser829Arg) n.2454A>C c.2149A>C (p.Ser717Arg) c.2560A>C (p.Ser854Arg) c.*2202A>C (n.*2202A>C) n.2585A>C c.16A>C (p.Ser6Arg) c.2482A>C (p.Ser828Arg) c.655+2497A>C (n.655+2497A>C) c.1168-774A>C (n.1168-774A>C) c.2413A>C (p.Ser805Arg) c.2476A>C (p.Ser826Arg) c.2464A>C (p.Ser822Arg) | |
2 | g.144398703T>A | CA348708175 | ZEB2 | c.*2333A>T (n.*2333A>T) c.1707A>T (p.Lys569Asn) c.2484A>T (p.Lys828Asn) n.2453A>T c.2148A>T (p.Lys716Asn) c.2559A>T (p.Lys853Asn) c.*2201A>T (n.*2201A>T) n.2584A>T c.15A>T (p.Lys5Asn) c.2481A>T (p.Lys827Asn) c.655+2496A>T (n.655+2496A>T) c.1168-775A>T (n.1168-775A>T) c.2412A>T (p.Lys804Asn) c.2475A>T (p.Lys825Asn) c.2463A>T (p.Lys821Asn) | |
2 | g.144398703T>C | CA429445783 | ZEB2 | c.*2333A>G (n.*2333A>G) c.1707A>G (p.Lys569=) c.2484A>G (p.Lys828=) n.2453A>G c.2148A>G (p.Lys716=) c.2559A>G (p.Lys853=) c.*2201A>G (n.*2201A>G) n.2584A>G c.15A>G (p.Lys5=) c.2481A>G (p.Lys827=) c.655+2496A>G (n.655+2496A>G) c.1168-775A>G (n.1168-775A>G) c.2412A>G (p.Lys804=) c.2475A>G (p.Lys825=) c.2463A>G (p.Lys821=) | gnomAD v4 |
2 | g.144398703T>G | CA348708176 | ZEB2 | c.*2333A>C (n.*2333A>C) c.1707A>C (p.Lys569Asn) c.2484A>C (p.Lys828Asn) n.2453A>C c.2148A>C (p.Lys716Asn) c.2559A>C (p.Lys853Asn) c.*2201A>C (n.*2201A>C) n.2584A>C c.15A>C (p.Lys5Asn) c.2481A>C (p.Lys827Asn) c.655+2496A>C (n.655+2496A>C) c.1168-775A>C (n.1168-775A>C) c.2412A>C (p.Lys804Asn) c.2475A>C (p.Lys825Asn) c.2463A>C (p.Lys821Asn) | |
2 | g.144398704T>A | CA348708177 | ZEB2 | c.*2332A>T (n.*2332A>T) c.1706A>T (p.Lys569Ile) c.2483A>T (p.Lys828Ile) n.2452A>T c.2147A>T (p.Lys716Ile) c.2558A>T (p.Lys853Ile) c.*2200A>T (n.*2200A>T) n.2583A>T c.14A>T (p.Lys5Ile) c.2480A>T (p.Lys827Ile) c.655+2495A>T (n.655+2495A>T) c.1168-776A>T (n.1168-776A>T) c.2411A>T (p.Lys804Ile) c.2474A>T (p.Lys825Ile) c.2462A>T (p.Lys821Ile) | |
2 | g.144398704T>C | CA348708178 | ZEB2 | c.*2332A>G (n.*2332A>G) c.1706A>G (p.Lys569Arg) c.2483A>G (p.Lys828Arg) n.2452A>G c.2147A>G (p.Lys716Arg) c.2558A>G (p.Lys853Arg) c.*2200A>G (n.*2200A>G) n.2583A>G c.14A>G (p.Lys5Arg) c.2480A>G (p.Lys827Arg) c.655+2495A>G (n.655+2495A>G) c.1168-776A>G (n.1168-776A>G) c.2411A>G (p.Lys804Arg) c.2474A>G (p.Lys825Arg) c.2462A>G (p.Lys821Arg) | |
2 | g.144398704T>G | CA348708179 | ZEB2 | c.*2332A>C (n.*2332A>C) c.1706A>C (p.Lys569Thr) c.2483A>C (p.Lys828Thr) n.2452A>C c.2147A>C (p.Lys716Thr) c.2558A>C (p.Lys853Thr) c.*2200A>C (n.*2200A>C) n.2583A>C c.14A>C (p.Lys5Thr) c.2480A>C (p.Lys827Thr) c.655+2495A>C (n.655+2495A>C) c.1168-776A>C (n.1168-776A>C) c.2411A>C (p.Lys804Thr) c.2474A>C (p.Lys825Thr) c.2462A>C (p.Lys821Thr) | |
2 | g.144398705T>A | CA348708181 | ZEB2 | c.*2331A>T (n.*2331A>T) c.1705A>T (p.Lys569Ter) c.2482A>T (p.Lys828Ter) n.2451A>T c.2146A>T (p.Lys716Ter) c.2557A>T (p.Lys853Ter) c.*2199A>T (n.*2199A>T) n.2582A>T c.13A>T (p.Lys5Ter) c.2479A>T (p.Lys827Ter) c.655+2494A>T (n.655+2494A>T) c.1168-777A>T (n.1168-777A>T) c.2410A>T (p.Lys804Ter) c.2473A>T (p.Lys825Ter) c.2461A>T (p.Lys821Ter) | |
2 | g.144398705T>C | CA348708182 | ZEB2 | c.*2331A>G (n.*2331A>G) c.1705A>G (p.Lys569Glu) c.2482A>G (p.Lys828Glu) n.2451A>G c.2146A>G (p.Lys716Glu) c.2557A>G (p.Lys853Glu) c.*2199A>G (n.*2199A>G) n.2582A>G c.13A>G (p.Lys5Glu) c.2479A>G (p.Lys827Glu) c.655+2494A>G (n.655+2494A>G) c.1168-777A>G (n.1168-777A>G) c.2410A>G (p.Lys804Glu) c.2473A>G (p.Lys825Glu) c.2461A>G (p.Lys821Glu) | gnomAD v4 |
2 | g.144398705T>G | CA348708180 | ZEB2 | c.*2331A>C (n.*2331A>C) c.1705A>C (p.Lys569Gln) c.2482A>C (p.Lys828Gln) n.2451A>C c.2146A>C (p.Lys716Gln) c.2557A>C (p.Lys853Gln) c.*2199A>C (n.*2199A>C) n.2582A>C c.13A>C (p.Lys5Gln) c.2479A>C (p.Lys827Gln) c.655+2494A>C (n.655+2494A>C) c.1168-777A>C (n.1168-777A>C) c.2410A>C (p.Lys804Gln) c.2473A>C (p.Lys825Gln) c.2461A>C (p.Lys821Gln) | |
2 | g.144398706G>A | CA429445790 | ZEB2 | c.*2330C>T (n.*2330C>T) c.1704C>T (p.Pro568=) c.2481C>T (p.Pro827=) n.2450C>T c.2145C>T (p.Pro715=) c.2556C>T (p.Pro852=) c.*2198C>T (n.*2198C>T) n.2581C>T c.12C>T (p.Pro4=) c.2478C>T (p.Pro826=) c.655+2493C>T (n.655+2493C>T) c.1168-778C>T (n.1168-778C>T) c.2409C>T (p.Pro803=) c.2472C>T (p.Pro824=) c.2460C>T (p.Pro820=) | ClinVar dbSNP |
2 | g.144398706G>C | CA429445791 | ZEB2 | c.*2330C>G (n.*2330C>G) c.1704C>G (p.Pro568=) c.2481C>G (p.Pro827=) n.2450C>G c.2145C>G (p.Pro715=) c.2556C>G (p.Pro852=) c.*2198C>G (n.*2198C>G) n.2581C>G c.12C>G (p.Pro4=) c.2478C>G (p.Pro826=) c.655+2493C>G (n.655+2493C>G) c.1168-778C>G (n.1168-778C>G) c.2409C>G (p.Pro803=) c.2472C>G (p.Pro824=) c.2460C>G (p.Pro820=) | |
2 | g.144398706G= | CA1294885001 | ZEB2 | c.*2330C= (n.*2330C=) c.1704C= (p.Pro568=) c.2481C= (p.Pro827=) n.2450C= c.2145C= (p.Pro715=) c.2556C= (p.Pro852=) c.*2198C= (n.*2198C=) n.2581C= c.12C= (p.Pro4=) c.2478C= (p.Pro826=) c.655+2493C= (n.655+2493C=) c.1168-778C= (n.1168-778C=) c.2409C= (p.Pro803=) c.2472C= (p.Pro824=) c.2460C= (p.Pro820=) | |
2 | g.144398706G>T | CA57555042 | ZEB2 | c.*2330C>A (n.*2330C>A) c.1704C>A (p.Pro568=) c.2481C>A (p.Pro827=) n.2450C>A c.2145C>A (p.Pro715=) c.2556C>A (p.Pro852=) c.*2198C>A (n.*2198C>A) n.2581C>A c.12C>A (p.Pro4=) c.2478C>A (p.Pro826=) c.655+2493C>A (n.655+2493C>A) c.1168-778C>A (n.1168-778C>A) c.2409C>A (p.Pro803=) c.2472C>A (p.Pro824=) c.2460C>A (p.Pro820=) | dbSNP |
2 | g.144398707G>A | CA348708183 | ZEB2 | c.*2329C>T (n.*2329C>T) c.1703C>T (p.Pro568Leu) c.2480C>T (p.Pro827Leu) n.2449C>T c.2144C>T (p.Pro715Leu) c.2555C>T (p.Pro852Leu) c.*2197C>T (n.*2197C>T) n.2580C>T c.11C>T (p.Pro4Leu) c.2477C>T (p.Pro826Leu) c.655+2492C>T (n.655+2492C>T) c.1168-779C>T (n.1168-779C>T) c.2408C>T (p.Pro803Leu) c.2471C>T (p.Pro824Leu) c.2459C>T (p.Pro820Leu) | dbSNP |
2 | g.144398707G>C | CA348708184 | ZEB2 | c.*2329C>G (n.*2329C>G) c.1703C>G (p.Pro568Arg) c.2480C>G (p.Pro827Arg) n.2449C>G c.2144C>G (p.Pro715Arg) c.2555C>G (p.Pro852Arg) c.*2197C>G (n.*2197C>G) n.2580C>G c.11C>G (p.Pro4Arg) c.2477C>G (p.Pro826Arg) c.655+2492C>G (n.655+2492C>G) c.1168-779C>G (n.1168-779C>G) c.2408C>G (p.Pro803Arg) c.2471C>G (p.Pro824Arg) c.2459C>G (p.Pro820Arg) | |
2 | g.144398707G= | CA1294885002 | ZEB2 | c.*2329C= (n.*2329C=) c.1703C= (p.Pro568=) c.2480C= (p.Pro827=) n.2449C= c.2144C= (p.Pro715=) c.2555C= (p.Pro852=) c.*2197C= (n.*2197C=) n.2580C= c.11C= (p.Pro4=) c.2477C= (p.Pro826=) c.655+2492C= (n.655+2492C=) c.1168-779C= (n.1168-779C=) c.2408C= (p.Pro803=) c.2471C= (p.Pro824=) c.2459C= (p.Pro820=) | |
2 | g.144398707G>T | CA348708185 | ZEB2 | c.*2329C>A (n.*2329C>A) c.1703C>A (p.Pro568His) c.2480C>A (p.Pro827His) n.2449C>A c.2144C>A (p.Pro715His) c.2555C>A (p.Pro852His) c.*2197C>A (n.*2197C>A) n.2580C>A c.11C>A (p.Pro4His) c.2477C>A (p.Pro826His) c.655+2492C>A (n.655+2492C>A) c.1168-779C>A (n.1168-779C>A) c.2408C>A (p.Pro803His) c.2471C>A (p.Pro824His) c.2459C>A (p.Pro820His) | COSMIC |
2 | g.144398708G>A | CA1898244 | ZEB2 | c.*2328C>T (n.*2328C>T) c.1702C>T (p.Pro568Ser) c.2479C>T (p.Pro827Ser) n.2448C>T c.2143C>T (p.Pro715Ser) c.2554C>T (p.Pro852Ser) c.*2196C>T (n.*2196C>T) n.2579C>T c.10C>T (p.Pro4Ser) c.2476C>T (p.Pro826Ser) c.655+2491C>T (n.655+2491C>T) c.1168-780C>T (n.1168-780C>T) c.2407C>T (p.Pro803Ser) c.2470C>T (p.Pro824Ser) c.2458C>T (p.Pro820Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.144398708G>C | CA348708186 | ZEB2 | c.*2328C>G (n.*2328C>G) c.1702C>G (p.Pro568Ala) c.2479C>G (p.Pro827Ala) n.2448C>G c.2143C>G (p.Pro715Ala) c.2554C>G (p.Pro852Ala) c.*2196C>G (n.*2196C>G) n.2579C>G c.10C>G (p.Pro4Ala) c.2476C>G (p.Pro826Ala) c.655+2491C>G (n.655+2491C>G) c.1168-780C>G (n.1168-780C>G) c.2407C>G (p.Pro803Ala) c.2470C>G (p.Pro824Ala) c.2458C>G (p.Pro820Ala) | |
2 | g.144398708G= | CA1294885003 | ZEB2 | c.*2328C= (n.*2328C=) c.1702C= (p.Pro568=) c.2479C= (p.Pro827=) n.2448C= c.2143C= (p.Pro715=) c.2554C= (p.Pro852=) c.*2196C= (n.*2196C=) n.2579C= c.10C= (p.Pro4=) c.2476C= (p.Pro826=) c.655+2491C= (n.655+2491C=) c.1168-780C= (n.1168-780C=) c.2407C= (p.Pro803=) c.2470C= (p.Pro824=) c.2458C= (p.Pro820=) | |
2 | g.144398708G>T | CA348708187 | ZEB2 | c.*2328C>A (n.*2328C>A) c.1702C>A (p.Pro568Thr) c.2479C>A (p.Pro827Thr) n.2448C>A c.2143C>A (p.Pro715Thr) c.2554C>A (p.Pro852Thr) c.*2196C>A (n.*2196C>A) n.2579C>A c.10C>A (p.Pro4Thr) c.2476C>A (p.Pro826Thr) c.655+2491C>A (n.655+2491C>A) c.1168-780C>A (n.1168-780C>A) c.2407C>A (p.Pro803Thr) c.2470C>A (p.Pro824Thr) c.2458C>A (p.Pro820Thr) | gnomAD v4 |
2 | g.144398709T>A | CA348708188 | ZEB2 | c.*2327A>T (n.*2327A>T) c.1701A>T (p.Glu567Asp) c.2478A>T (p.Glu826Asp) n.2447A>T c.2142A>T (p.Glu714Asp) c.2553A>T (p.Glu851Asp) c.*2195A>T (n.*2195A>T) n.2578A>T c.9A>T (p.Glu3Asp) c.2475A>T (p.Glu825Asp) c.655+2490A>T (n.655+2490A>T) c.1168-781A>T (n.1168-781A>T) c.2406A>T (p.Glu802Asp) c.2469A>T (p.Glu823Asp) c.2457A>T (p.Glu819Asp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.144398709T>C | CA429445798 | ZEB2 | c.*2327A>G (n.*2327A>G) c.1701A>G (p.Glu567=) c.2478A>G (p.Glu826=) n.2447A>G c.2142A>G (p.Glu714=) c.2553A>G (p.Glu851=) c.*2195A>G (n.*2195A>G) n.2578A>G c.9A>G (p.Glu3=) c.2475A>G (p.Glu825=) c.655+2490A>G (n.655+2490A>G) c.1168-781A>G (n.1168-781A>G) c.2406A>G (p.Glu802=) c.2469A>G (p.Glu823=) c.2457A>G (p.Glu819=) | gnomAD v4 |
2 | g.144398709T>G | CA348708189 | ZEB2 | c.*2327A>C (n.*2327A>C) c.1701A>C (p.Glu567Asp) c.2478A>C (p.Glu826Asp) n.2447A>C c.2142A>C (p.Glu714Asp) c.2553A>C (p.Glu851Asp) c.*2195A>C (n.*2195A>C) n.2578A>C c.9A>C (p.Glu3Asp) c.2475A>C (p.Glu825Asp) c.655+2490A>C (n.655+2490A>C) c.1168-781A>C (n.1168-781A>C) c.2406A>C (p.Glu802Asp) c.2469A>C (p.Glu823Asp) c.2457A>C (p.Glu819Asp) | |
2 | g.144398709T= | CA1294885004 | ZEB2 | c.*2327A= (n.*2327A=) c.1701A= (p.Glu567=) c.2478A= (p.Glu826=) n.2447A= c.2142A= (p.Glu714=) c.2553A= (p.Glu851=) c.*2195A= (n.*2195A=) n.2578A= c.9A= (p.Glu3=) c.2475A= (p.Glu825=) c.655+2490A= (n.655+2490A=) c.1168-781A= (n.1168-781A=) c.2406A= (p.Glu802=) c.2469A= (p.Glu823=) c.2457A= (p.Glu819=) | |
2 | g.144398710T>A | CA348708190 | ZEB2 | c.*2326A>T (n.*2326A>T) c.1700A>T (p.Glu567Val) c.2477A>T (p.Glu826Val) n.2446A>T c.2141A>T (p.Glu714Val) c.2552A>T (p.Glu851Val) c.*2194A>T (n.*2194A>T) n.2577A>T c.8A>T (p.Glu3Val) c.2474A>T (p.Glu825Val) c.655+2489A>T (n.655+2489A>T) c.1168-782A>T (n.1168-782A>T) c.2405A>T (p.Glu802Val) c.2468A>T (p.Glu823Val) c.2456A>T (p.Glu819Val) | gnomAD v4 |
2 | g.144398710T>C | CA348708191 | ZEB2 | c.*2326A>G (n.*2326A>G) c.1700A>G (p.Glu567Gly) c.2477A>G (p.Glu826Gly) n.2446A>G c.2141A>G (p.Glu714Gly) c.2552A>G (p.Glu851Gly) c.*2194A>G (n.*2194A>G) n.2577A>G c.8A>G (p.Glu3Gly) c.2474A>G (p.Glu825Gly) c.655+2489A>G (n.655+2489A>G) c.1168-782A>G (n.1168-782A>G) c.2405A>G (p.Glu802Gly) c.2468A>G (p.Glu823Gly) c.2456A>G (p.Glu819Gly) | dbSNP |
2 | g.144398710T>G | CA348708192 | ZEB2 | c.*2326A>C (n.*2326A>C) c.1700A>C (p.Glu567Ala) c.2477A>C (p.Glu826Ala) n.2446A>C c.2141A>C (p.Glu714Ala) c.2552A>C (p.Glu851Ala) c.*2194A>C (n.*2194A>C) n.2577A>C c.8A>C (p.Glu3Ala) c.2474A>C (p.Glu825Ala) c.655+2489A>C (n.655+2489A>C) c.1168-782A>C (n.1168-782A>C) c.2405A>C (p.Glu802Ala) c.2468A>C (p.Glu823Ala) c.2456A>C (p.Glu819Ala) | |
2 | g.144398710T= | CA1294885005 | ZEB2 | c.*2326A= (n.*2326A=) c.1700A= (p.Glu567=) c.2477A= (p.Glu826=) n.2446A= c.2141A= (p.Glu714=) c.2552A= (p.Glu851=) c.*2194A= (n.*2194A=) n.2577A= c.8A= (p.Glu3=) c.2474A= (p.Glu825=) c.655+2489A= (n.655+2489A=) c.1168-782A= (n.1168-782A=) c.2405A= (p.Glu802=) c.2468A= (p.Glu823=) c.2456A= (p.Glu819=) | |
2 | g.144398711C>A | CA348708193 | ZEB2 | c.*2325G>T (n.*2325G>T) c.1699G>T (p.Glu567Ter) c.2476G>T (p.Glu826Ter) n.2445G>T c.2140G>T (p.Glu714Ter) c.2551G>T (p.Glu851Ter) c.*2193G>T (n.*2193G>T) n.2576G>T c.7G>T (p.Glu3Ter) c.2473G>T (p.Glu825Ter) c.655+2488G>T (n.655+2488G>T) c.1168-783G>T (n.1168-783G>T) c.2404G>T (p.Glu802Ter) c.2467G>T (p.Glu823Ter) c.2455G>T (p.Glu819Ter) | ClinVar |
2 | g.144398711C>G | CA348708194 | ZEB2 | c.*2325G>C (n.*2325G>C) c.1699G>C (p.Glu567Gln) c.2476G>C (p.Glu826Gln) n.2445G>C c.2140G>C (p.Glu714Gln) c.2551G>C (p.Glu851Gln) c.*2193G>C (n.*2193G>C) n.2576G>C c.7G>C (p.Glu3Gln) c.2473G>C (p.Glu825Gln) c.655+2488G>C (n.655+2488G>C) c.1168-783G>C (n.1168-783G>C) c.2404G>C (p.Glu802Gln) c.2467G>C (p.Glu823Gln) c.2455G>C (p.Glu819Gln) | |
2 | g.144398711C>T | CA348708195 | ZEB2 | c.*2325G>A (n.*2325G>A) c.1699G>A (p.Glu567Lys) c.2476G>A (p.Glu826Lys) n.2445G>A c.2140G>A (p.Glu714Lys) c.2551G>A (p.Glu851Lys) c.*2193G>A (n.*2193G>A) n.2576G>A c.7G>A (p.Glu3Lys) c.2473G>A (p.Glu825Lys) c.655+2488G>A (n.655+2488G>A) c.1168-783G>A (n.1168-783G>A) c.2404G>A (p.Glu802Lys) c.2467G>A (p.Glu823Lys) c.2455G>A (p.Glu819Lys) | |
2 | g.144398712T>A | CA348708196 | ZEB2 | c.*2324A>T (n.*2324A>T) c.1698A>T (p.Lys566Asn) c.2475A>T (p.Lys825Asn) n.2444A>T c.2139A>T (p.Lys713Asn) c.2550A>T (p.Lys850Asn) c.*2192A>T (n.*2192A>T) n.2575A>T c.6A>T (p.Lys2Asn) c.2472A>T (p.Lys824Asn) c.655+2487A>T (n.655+2487A>T) c.1168-784A>T (n.1168-784A>T) c.2403A>T (p.Lys801Asn) c.2466A>T (p.Lys822Asn) c.2454A>T (p.Lys818Asn) | |
2 | g.144398712T>C | CA429445803 | ZEB2 | c.*2324A>G (n.*2324A>G) c.1698A>G (p.Lys566=) c.2475A>G (p.Lys825=) n.2444A>G c.2139A>G (p.Lys713=) c.2550A>G (p.Lys850=) c.*2192A>G (n.*2192A>G) n.2575A>G c.6A>G (p.Lys2=) c.2472A>G (p.Lys824=) c.655+2487A>G (n.655+2487A>G) c.1168-784A>G (n.1168-784A>G) c.2403A>G (p.Lys801=) c.2466A>G (p.Lys822=) c.2454A>G (p.Lys818=) | dbSNP gnomAD v4 |
2 | g.144398712T>G | CA348708197 | ZEB2 | c.*2324A>C (n.*2324A>C) c.1698A>C (p.Lys566Asn) c.2475A>C (p.Lys825Asn) n.2444A>C c.2139A>C (p.Lys713Asn) c.2550A>C (p.Lys850Asn) c.*2192A>C (n.*2192A>C) n.2575A>C c.6A>C (p.Lys2Asn) c.2472A>C (p.Lys824Asn) c.655+2487A>C (n.655+2487A>C) c.1168-784A>C (n.1168-784A>C) c.2403A>C (p.Lys801Asn) c.2466A>C (p.Lys822Asn) c.2454A>C (p.Lys818Asn) | |
2 | g.144398712T= | CA1294885006 | ZEB2 | c.*2324A= (n.*2324A=) c.1698A= (p.Lys566=) c.2475A= (p.Lys825=) n.2444A= c.2139A= (p.Lys713=) c.2550A= (p.Lys850=) c.*2192A= (n.*2192A=) n.2575A= c.6A= (p.Lys2=) c.2472A= (p.Lys824=) c.655+2487A= (n.655+2487A=) c.1168-784A= (n.1168-784A=) c.2403A= (p.Lys801=) c.2466A= (p.Lys822=) c.2454A= (p.Lys818=) | |
2 | g.144398715_144398719del | CA645536265 | ZEB2 | c.*2320_*2324del (n.*2320_*2324del) c.1694_1698del (p.Met565ArgfsTer15) c.2471_2475del (p.Met824ArgfsTer15) n.2440_2444del c.2135_2139del (p.Met712ArgfsTer15) c.2546_2550del (p.Met849ArgfsTer15) c.*2188_*2192del (n.*2188_*2192del) n.2571_2575del c.2_6del (p.Met1ArgfsTer15) c.2468_2472del (p.Met823ArgfsTer15) c.655+2483_655+2487del (n.655+2483_655+2487del) c.1168-788_1168-784del (n.1168-788_1168-784del) c.2399_2403del (p.Met800ArgfsTer15) c.2462_2466del (p.Met821ArgfsTer15) c.2450_2454del (p.Met817ArgfsTer15) | COSMIC |
2 | g.144398713T>A | CA348708198 | ZEB2 | c.*2323A>T (n.*2323A>T) c.1697A>T (p.Lys566Ile) c.2474A>T (p.Lys825Ile) n.2443A>T c.2138A>T (p.Lys713Ile) c.2549A>T (p.Lys850Ile) c.*2191A>T (n.*2191A>T) n.2574A>T c.5A>T (p.Lys2Ile) c.2471A>T (p.Lys824Ile) c.655+2486A>T (n.655+2486A>T) c.1168-785A>T (n.1168-785A>T) c.2402A>T (p.Lys801Ile) c.2465A>T (p.Lys822Ile) c.2453A>T (p.Lys818Ile) | |
2 | g.144398713T>C | CA348708199 | ZEB2 | c.*2323A>G (n.*2323A>G) c.1697A>G (p.Lys566Arg) c.2474A>G (p.Lys825Arg) n.2443A>G c.2138A>G (p.Lys713Arg) c.2549A>G (p.Lys850Arg) c.*2191A>G (n.*2191A>G) n.2574A>G c.5A>G (p.Lys2Arg) c.2471A>G (p.Lys824Arg) c.655+2486A>G (n.655+2486A>G) c.1168-785A>G (n.1168-785A>G) c.2402A>G (p.Lys801Arg) c.2465A>G (p.Lys822Arg) c.2453A>G (p.Lys818Arg) | |
2 | g.144398713T>G | CA348708200 | ZEB2 | c.*2323A>C (n.*2323A>C) c.1697A>C (p.Lys566Thr) c.2474A>C (p.Lys825Thr) n.2443A>C c.2138A>C (p.Lys713Thr) c.2549A>C (p.Lys850Thr) c.*2191A>C (n.*2191A>C) n.2574A>C c.5A>C (p.Lys2Thr) c.2471A>C (p.Lys824Thr) c.655+2486A>C (n.655+2486A>C) c.1168-785A>C (n.1168-785A>C) c.2402A>C (p.Lys801Thr) c.2465A>C (p.Lys822Thr) c.2453A>C (p.Lys818Thr) | |
2 | g.144398714T>A | CA348708201 | ZEB2 | c.*2322A>T (n.*2322A>T) c.1696A>T (p.Lys566Ter) c.2473A>T (p.Lys825Ter) n.2442A>T c.2137A>T (p.Lys713Ter) c.2548A>T (p.Lys850Ter) c.*2190A>T (n.*2190A>T) n.2573A>T c.4A>T (p.Lys2Ter) c.2470A>T (p.Lys824Ter) c.655+2485A>T (n.655+2485A>T) c.1168-786A>T (n.1168-786A>T) c.2401A>T (p.Lys801Ter) c.2464A>T (p.Lys822Ter) c.2452A>T (p.Lys818Ter) | |
2 | g.144398714T>C | CA348708202 | ZEB2 | c.*2322A>G (n.*2322A>G) c.1696A>G (p.Lys566Glu) c.2473A>G (p.Lys825Glu) n.2442A>G c.2137A>G (p.Lys713Glu) c.2548A>G (p.Lys850Glu) c.*2190A>G (n.*2190A>G) n.2573A>G c.4A>G (p.Lys2Glu) c.2470A>G (p.Lys824Glu) c.655+2485A>G (n.655+2485A>G) c.1168-786A>G (n.1168-786A>G) c.2401A>G (p.Lys801Glu) c.2464A>G (p.Lys822Glu) c.2452A>G (p.Lys818Glu) | |
2 | g.144398714T>G | CA348708203 | ZEB2 | c.*2322A>C (n.*2322A>C) c.1696A>C (p.Lys566Gln) c.2473A>C (p.Lys825Gln) n.2442A>C c.2137A>C (p.Lys713Gln) c.2548A>C (p.Lys850Gln) c.*2190A>C (n.*2190A>C) n.2573A>C c.4A>C (p.Lys2Gln) c.2470A>C (p.Lys824Gln) c.655+2485A>C (n.655+2485A>C) c.1168-786A>C (n.1168-786A>C) c.2401A>C (p.Lys801Gln) c.2464A>C (p.Lys822Gln) c.2452A>C (p.Lys818Gln) | |
2 | g.144398715C>A | CA348708204 | ZEB2 | c.*2321G>T (n.*2321G>T) c.1695G>T (p.Met565Ile) c.2472G>T (p.Met824Ile) n.2441G>T c.2136G>T (p.Met712Ile) c.2547G>T (p.Met849Ile) c.*2189G>T (n.*2189G>T) n.2572G>T c.3G>T (p.Met1Ile) c.2469G>T (p.Met823Ile) c.655+2484G>T (n.655+2484G>T) c.1168-787G>T (n.1168-787G>T) c.2400G>T (p.Met800Ile) c.2463G>T (p.Met821Ile) c.2451G>T (p.Met817Ile) | |
2 | g.144398715C>G | CA348708205 | ZEB2 | c.*2321G>C (n.*2321G>C) c.1695G>C (p.Met565Ile) c.2472G>C (p.Met824Ile) n.2441G>C c.2136G>C (p.Met712Ile) c.2547G>C (p.Met849Ile) c.*2189G>C (n.*2189G>C) n.2572G>C c.3G>C (p.Met1Ile) c.2469G>C (p.Met823Ile) c.655+2484G>C (n.655+2484G>C) c.1168-787G>C (n.1168-787G>C) c.2400G>C (p.Met800Ile) c.2463G>C (p.Met821Ile) c.2451G>C (p.Met817Ile) | |
2 | g.144398715C>T | CA348708206 | ZEB2 | c.*2321G>A (n.*2321G>A) c.1695G>A (p.Met565Ile) c.2472G>A (p.Met824Ile) n.2441G>A c.2136G>A (p.Met712Ile) c.2547G>A (p.Met849Ile) c.*2189G>A (n.*2189G>A) n.2572G>A c.3G>A (p.Met1Ile) c.2469G>A (p.Met823Ile) c.655+2484G>A (n.655+2484G>A) c.1168-787G>A (n.1168-787G>A) c.2400G>A (p.Met800Ile) c.2463G>A (p.Met821Ile) c.2451G>A (p.Met817Ile) | ClinVar |
2 | g.144398716A= | CA1294885007 | ZEB2 | c.*2320T= (n.*2320T=) c.1694T= (p.Met565=) c.2471T= (p.Met824=) n.2440T= c.2135T= (p.Met712=) c.2546T= (p.Met849=) c.*2188T= (n.*2188T=) n.2571T= c.2T= (p.Met1=) c.2468T= (p.Met823=) c.655+2483T= (n.655+2483T=) c.1168-788T= (n.1168-788T=) c.2399T= (p.Met800=) c.2462T= (p.Met821=) c.2450T= (p.Met817=) | |
2 | g.144398716A>C | CA348708207 | ZEB2 | c.*2320T>G (n.*2320T>G) c.1694T>G (p.Met565Arg) c.2471T>G (p.Met824Arg) n.2440T>G c.2135T>G (p.Met712Arg) c.2546T>G (p.Met849Arg) c.*2188T>G (n.*2188T>G) n.2571T>G c.2T>G (p.Met1Arg) c.2468T>G (p.Met823Arg) c.655+2483T>G (n.655+2483T>G) c.1168-788T>G (n.1168-788T>G) c.2399T>G (p.Met800Arg) c.2462T>G (p.Met821Arg) c.2450T>G (p.Met817Arg) | |
2 | g.144398716A>G | CA348708208 | ZEB2 | c.*2320T>C (n.*2320T>C) c.1694T>C (p.Met565Thr) c.2471T>C (p.Met824Thr) n.2440T>C c.2135T>C (p.Met712Thr) c.2546T>C (p.Met849Thr) c.*2188T>C (n.*2188T>C) n.2571T>C c.2T>C (p.Met1Thr) c.2468T>C (p.Met823Thr) c.655+2483T>C (n.655+2483T>C) c.1168-788T>C (n.1168-788T>C) c.2399T>C (p.Met800Thr) c.2462T>C (p.Met821Thr) c.2450T>C (p.Met817Thr) | ClinVar dbSNP gnomAD v4 |
2 | g.144398716A>T | CA348708209 | ZEB2 | c.*2320T>A (n.*2320T>A) c.1694T>A (p.Met565Lys) c.2471T>A (p.Met824Lys) n.2440T>A c.2135T>A (p.Met712Lys) c.2546T>A (p.Met849Lys) c.*2188T>A (n.*2188T>A) n.2571T>A c.2T>A (p.Met1Lys) c.2468T>A (p.Met823Lys) c.655+2483T>A (n.655+2483T>A) c.1168-788T>A (n.1168-788T>A) c.2399T>A (p.Met800Lys) c.2462T>A (p.Met821Lys) c.2450T>A (p.Met817Lys) | |
2 | g.144398717T>A | CA348708212 | ZEB2 | c.*2319A>T (n.*2319A>T) c.1693A>T (p.Met565Leu) c.2470A>T (p.Met824Leu) n.2439A>T c.2134A>T (p.Met712Leu) c.2545A>T (p.Met849Leu) c.*2187A>T (n.*2187A>T) n.2570A>T c.1A>T (p.Met1Leu) c.2467A>T (p.Met823Leu) c.655+2482A>T (n.655+2482A>T) c.1168-789A>T (n.1168-789A>T) c.2398A>T (p.Met800Leu) c.2461A>T (p.Met821Leu) c.2449A>T (p.Met817Leu) | |
2 | g.144398717T>C | CA348708211 | ZEB2 | c.*2319A>G (n.*2319A>G) c.1693A>G (p.Met565Val) c.2470A>G (p.Met824Val) n.2439A>G c.2134A>G (p.Met712Val) c.2545A>G (p.Met849Val) c.*2187A>G (n.*2187A>G) n.2570A>G c.1A>G (p.Met1Val) c.2467A>G (p.Met823Val) c.655+2482A>G (n.655+2482A>G) c.1168-789A>G (n.1168-789A>G) c.2398A>G (p.Met800Val) c.2461A>G (p.Met821Val) c.2449A>G (p.Met817Val) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.144398717T>G | CA348708210 | ZEB2 | c.*2319A>C (n.*2319A>C) c.1693A>C (p.Met565Leu) c.2470A>C (p.Met824Leu) n.2439A>C c.2134A>C (p.Met712Leu) c.2545A>C (p.Met849Leu) c.*2187A>C (n.*2187A>C) n.2570A>C c.1A>C (p.Met1Leu) c.2467A>C (p.Met823Leu) c.655+2482A>C (n.655+2482A>C) c.1168-789A>C (n.1168-789A>C) c.2398A>C (p.Met800Leu) c.2461A>C (p.Met821Leu) c.2449A>C (p.Met817Leu) | |
2 | g.144398717T= | CA1294885008 | ZEB2 | c.*2319A= (n.*2319A=) c.1693A= (p.Met565=) c.2470A= (p.Met824=) n.2439A= c.2134A= (p.Met712=) c.2545A= (p.Met849=) c.*2187A= (n.*2187A=) n.2570A= c.1A= (p.Met1=) c.2467A= (p.Met823=) c.655+2482A= (n.655+2482A=) c.1168-789A= (n.1168-789A=) c.2398A= (p.Met800=) c.2461A= (p.Met821=) c.2449A= (p.Met817=) | |
2 | g.144398718T>A | CA348708213 | ZEB2 | c.*2318A>T (n.*2318A>T) c.1692A>T (p.Gln564His) c.2469A>T (p.Gln823His) n.2438A>T c.2133A>T (p.Gln711His) c.2544A>T (p.Gln848His) c.*2186A>T (n.*2186A>T) n.2569A>T c.-1A>T (n.-1A>T) c.2466A>T (p.Gln822His) c.655+2481A>T (n.655+2481A>T) c.1168-790A>T (n.1168-790A>T) c.2397A>T (p.Gln799His) c.2460A>T (p.Gln820His) c.2448A>T (p.Gln816His) | |
2 | g.144398718T>C | CA429445815 | ZEB2 | c.*2318A>G (n.*2318A>G) c.1692A>G (p.Gln564=) c.2469A>G (p.Gln823=) n.2438A>G c.2133A>G (p.Gln711=) c.2544A>G (p.Gln848=) c.*2186A>G (n.*2186A>G) n.2569A>G c.-1A>G (n.-1A>G) c.2466A>G (p.Gln822=) c.655+2481A>G (n.655+2481A>G) c.1168-790A>G (n.1168-790A>G) c.2397A>G (p.Gln799=) c.2460A>G (p.Gln820=) c.2448A>G (p.Gln816=) | |
2 | g.144398718T>G | CA348708214 | ZEB2 | c.*2318A>C (n.*2318A>C) c.1692A>C (p.Gln564His) c.2469A>C (p.Gln823His) n.2438A>C c.2133A>C (p.Gln711His) c.2544A>C (p.Gln848His) c.*2186A>C (n.*2186A>C) n.2569A>C c.-1A>C (n.-1A>C) c.2466A>C (p.Gln822His) c.655+2481A>C (n.655+2481A>C) c.1168-790A>C (n.1168-790A>C) c.2397A>C (p.Gln799His) c.2460A>C (p.Gln820His) c.2448A>C (p.Gln816His) | |
2 | g.144398719T>A | CA348708215 | ZEB2 | c.*2317A>T (n.*2317A>T) c.1691A>T (p.Gln564Leu) c.2468A>T (p.Gln823Leu) n.2437A>T c.2132A>T (p.Gln711Leu) c.2543A>T (p.Gln848Leu) c.*2185A>T (n.*2185A>T) n.2568A>T c.-2A>T (n.-2A>T) c.2465A>T (p.Gln822Leu) c.655+2480A>T (n.655+2480A>T) c.1168-791A>T (n.1168-791A>T) c.2396A>T (p.Gln799Leu) c.2459A>T (p.Gln820Leu) c.2447A>T (p.Gln816Leu) | |
2 | g.144398719T>C | CA348708216 | ZEB2 | c.*2317A>G (n.*2317A>G) c.1691A>G (p.Gln564Arg) c.2468A>G (p.Gln823Arg) n.2437A>G c.2132A>G (p.Gln711Arg) c.2543A>G (p.Gln848Arg) c.*2185A>G (n.*2185A>G) n.2568A>G c.-2A>G (n.-2A>G) c.2465A>G (p.Gln822Arg) c.655+2480A>G (n.655+2480A>G) c.1168-791A>G (n.1168-791A>G) c.2396A>G (p.Gln799Arg) c.2459A>G (p.Gln820Arg) c.2447A>G (p.Gln816Arg) | |
2 | g.144398719T>G | CA348708217 | ZEB2 | c.*2317A>C (n.*2317A>C) c.1691A>C (p.Gln564Pro) c.2468A>C (p.Gln823Pro) n.2437A>C c.2132A>C (p.Gln711Pro) c.2543A>C (p.Gln848Pro) c.*2185A>C (n.*2185A>C) n.2568A>C c.-2A>C (n.-2A>C) c.2465A>C (p.Gln822Pro) c.655+2480A>C (n.655+2480A>C) c.1168-791A>C (n.1168-791A>C) c.2396A>C (p.Gln799Pro) c.2459A>C (p.Gln820Pro) c.2447A>C (p.Gln816Pro) | |
2 | g.144398720G>A | CA348708218 | ZEB2 | c.*2316C>T (n.*2316C>T) c.1690C>T (p.Gln564Ter) c.2467C>T (p.Gln823Ter) n.2436C>T c.2131C>T (p.Gln711Ter) c.2542C>T (p.Gln848Ter) c.*2184C>T (n.*2184C>T) n.2567C>T c.-3C>T (n.-3C>T) c.2464C>T (p.Gln822Ter) c.655+2479C>T (n.655+2479C>T) c.1168-792C>T (n.1168-792C>T) c.2395C>T (p.Gln799Ter) c.2458C>T (p.Gln820Ter) c.2446C>T (p.Gln816Ter) | ClinVar |
2 | g.144398720G>C | CA348708219 | ZEB2 | c.*2316C>G (n.*2316C>G) c.1690C>G (p.Gln564Glu) c.2467C>G (p.Gln823Glu) n.2436C>G c.2131C>G (p.Gln711Glu) c.2542C>G (p.Gln848Glu) c.*2184C>G (n.*2184C>G) n.2567C>G c.-3C>G (n.-3C>G) c.2464C>G (p.Gln822Glu) c.655+2479C>G (n.655+2479C>G) c.1168-792C>G (n.1168-792C>G) c.2395C>G (p.Gln799Glu) c.2458C>G (p.Gln820Glu) c.2446C>G (p.Gln816Glu) | |
2 | g.144398720G>T | CA348708220 | ZEB2 | c.*2316C>A (n.*2316C>A) c.1690C>A (p.Gln564Lys) c.2467C>A (p.Gln823Lys) n.2436C>A c.2131C>A (p.Gln711Lys) c.2542C>A (p.Gln848Lys) c.*2184C>A (n.*2184C>A) n.2567C>A c.-3C>A (n.-3C>A) c.2464C>A (p.Gln822Lys) c.655+2479C>A (n.655+2479C>A) c.1168-792C>A (n.1168-792C>A) c.2395C>A (p.Gln799Lys) c.2458C>A (p.Gln820Lys) c.2446C>A (p.Gln816Lys) | gnomAD v4 |
2 | g.144398721T>A | CA348708221 | ZEB2 | c.*2315A>T (n.*2315A>T) c.1689A>T (p.Lys563Asn) c.2466A>T (p.Lys822Asn) n.2435A>T c.2130A>T (p.Lys710Asn) c.2541A>T (p.Lys847Asn) c.*2183A>T (n.*2183A>T) n.2566A>T c.-4A>T (n.-4A>T) n.3014A>T c.2463A>T (p.Lys821Asn) c.655+2478A>T (n.655+2478A>T) c.1168-793A>T (n.1168-793A>T) c.2394A>T (p.Lys798Asn) c.2457A>T (p.Lys819Asn) c.2445A>T (p.Lys815Asn) | |
2 | g.144398721T>C | CA429445820 | ZEB2 | c.*2315A>G (n.*2315A>G) c.1689A>G (p.Lys563=) c.2466A>G (p.Lys822=) n.2435A>G c.2130A>G (p.Lys710=) c.2541A>G (p.Lys847=) c.*2183A>G (n.*2183A>G) n.2566A>G c.-4A>G (n.-4A>G) n.3014A>G c.2463A>G (p.Lys821=) c.655+2478A>G (n.655+2478A>G) c.1168-793A>G (n.1168-793A>G) c.2394A>G (p.Lys798=) c.2457A>G (p.Lys819=) c.2445A>G (p.Lys815=) | |
2 | g.144398721T>G | CA348708222 | ZEB2 | c.*2315A>C (n.*2315A>C) c.1689A>C (p.Lys563Asn) c.2466A>C (p.Lys822Asn) n.2435A>C c.2130A>C (p.Lys710Asn) c.2541A>C (p.Lys847Asn) c.*2183A>C (n.*2183A>C) n.2566A>C c.-4A>C (n.-4A>C) n.3014A>C c.2463A>C (p.Lys821Asn) c.655+2478A>C (n.655+2478A>C) c.1168-793A>C (n.1168-793A>C) c.2394A>C (p.Lys798Asn) c.2457A>C (p.Lys819Asn) c.2445A>C (p.Lys815Asn) | |
2 | g.144398722T>A | CA348708223 | ZEB2 | c.*2314A>T (n.*2314A>T) c.1688A>T (p.Lys563Ile) c.2465A>T (p.Lys822Ile) n.2434A>T c.2129A>T (p.Lys710Ile) c.2540A>T (p.Lys847Ile) c.*2182A>T (n.*2182A>T) n.2565A>T c.-5A>T (n.-5A>T) n.3013A>T c.2462A>T (p.Lys821Ile) c.655+2477A>T (n.655+2477A>T) c.1168-794A>T (n.1168-794A>T) c.2393A>T (p.Lys798Ile) c.2456A>T (p.Lys819Ile) c.2444A>T (p.Lys815Ile) | COSMIC |
2 | g.144398722T>C | CA348708224 | ZEB2 | c.*2314A>G (n.*2314A>G) c.1688A>G (p.Lys563Arg) c.2465A>G (p.Lys822Arg) n.2434A>G c.2129A>G (p.Lys710Arg) c.2540A>G (p.Lys847Arg) c.*2182A>G (n.*2182A>G) n.2565A>G c.-5A>G (n.-5A>G) n.3013A>G c.2462A>G (p.Lys821Arg) c.655+2477A>G (n.655+2477A>G) c.1168-794A>G (n.1168-794A>G) c.2393A>G (p.Lys798Arg) c.2456A>G (p.Lys819Arg) c.2444A>G (p.Lys815Arg) | |
2 | g.144398722T>G | CA348708225 | ZEB2 | c.*2314A>C (n.*2314A>C) c.1688A>C (p.Lys563Thr) c.2465A>C (p.Lys822Thr) n.2434A>C c.2129A>C (p.Lys710Thr) c.2540A>C (p.Lys847Thr) c.*2182A>C (n.*2182A>C) n.2565A>C c.-5A>C (n.-5A>C) n.3013A>C c.2462A>C (p.Lys821Thr) c.655+2477A>C (n.655+2477A>C) c.1168-794A>C (n.1168-794A>C) c.2393A>C (p.Lys798Thr) c.2456A>C (p.Lys819Thr) c.2444A>C (p.Lys815Thr) | |
2 | g.144398723T>A | CA348708227 | ZEB2 | c.*2313A>T (n.*2313A>T) c.1687A>T (p.Lys563Ter) c.2464A>T (p.Lys822Ter) n.2433A>T c.2128A>T (p.Lys710Ter) c.2539A>T (p.Lys847Ter) c.*2181A>T (n.*2181A>T) n.2564A>T c.-6A>T (n.-6A>T) n.3012A>T c.2461A>T (p.Lys821Ter) c.655+2476A>T (n.655+2476A>T) c.1168-795A>T (n.1168-795A>T) c.2392A>T (p.Lys798Ter) c.2455A>T (p.Lys819Ter) c.2443A>T (p.Lys815Ter) | |
2 | g.144398723T>C | CA348708228 | ZEB2 | c.*2313A>G (n.*2313A>G) c.1687A>G (p.Lys563Glu) c.2464A>G (p.Lys822Glu) n.2433A>G c.2128A>G (p.Lys710Glu) c.2539A>G (p.Lys847Glu) c.*2181A>G (n.*2181A>G) n.2564A>G c.-6A>G (n.-6A>G) n.3012A>G c.2461A>G (p.Lys821Glu) c.655+2476A>G (n.655+2476A>G) c.1168-795A>G (n.1168-795A>G) c.2392A>G (p.Lys798Glu) c.2455A>G (p.Lys819Glu) c.2443A>G (p.Lys815Glu) | |
2 | g.144398723T>G | CA348708226 | ZEB2 | c.*2313A>C (n.*2313A>C) c.1687A>C (p.Lys563Gln) c.2464A>C (p.Lys822Gln) n.2433A>C c.2128A>C (p.Lys710Gln) c.2539A>C (p.Lys847Gln) c.*2181A>C (n.*2181A>C) n.2564A>C c.-6A>C (n.-6A>C) n.3012A>C c.2461A>C (p.Lys821Gln) c.655+2476A>C (n.655+2476A>C) c.1168-795A>C (n.1168-795A>C) c.2392A>C (p.Lys798Gln) c.2455A>C (p.Lys819Gln) c.2443A>C (p.Lys815Gln) | |
2 | g.144398724T>A | CA429445290 | ZEB2 | c.*2312A>T (n.*2312A>T) c.1686A>T (p.Pro562=) c.2463A>T (p.Pro821=) n.2432A>T c.2127A>T (p.Pro709=) c.2538A>T (p.Pro846=) c.*2180A>T (n.*2180A>T) n.2563A>T c.-7A>T (n.-7A>T) n.3011A>T c.2460A>T (p.Pro820=) c.655+2475A>T (n.655+2475A>T) c.1168-796A>T (n.1168-796A>T) c.2391A>T (p.Pro797=) c.2454A>T (p.Pro818=) c.2442A>T (p.Pro814=) | |
2 | g.144398724T>C | CA429445291 | ZEB2 | c.*2312A>G (n.*2312A>G) c.1686A>G (p.Pro562=) c.2463A>G (p.Pro821=) n.2432A>G c.2127A>G (p.Pro709=) c.2538A>G (p.Pro846=) c.*2180A>G (n.*2180A>G) n.2563A>G c.-7A>G (n.-7A>G) n.3011A>G c.2460A>G (p.Pro820=) c.655+2475A>G (n.655+2475A>G) c.1168-796A>G (n.1168-796A>G) c.2391A>G (p.Pro797=) c.2454A>G (p.Pro818=) c.2442A>G (p.Pro814=) | |
2 | g.144398724T>G | CA429445293 | ZEB2 | c.*2312A>C (n.*2312A>C) c.1686A>C (p.Pro562=) c.2463A>C (p.Pro821=) n.2432A>C c.2127A>C (p.Pro709=) c.2538A>C (p.Pro846=) c.*2180A>C (n.*2180A>C) n.2563A>C c.-7A>C (n.-7A>C) n.3011A>C c.2460A>C (p.Pro820=) c.655+2475A>C (n.655+2475A>C) c.1168-796A>C (n.1168-796A>C) c.2391A>C (p.Pro797=) c.2454A>C (p.Pro818=) c.2442A>C (p.Pro814=) | |
2 | g.144398725G>A | CA348708229 | ZEB2 | c.*2311C>T (n.*2311C>T) c.1685C>T (p.Pro562Leu) c.2462C>T (p.Pro821Leu) n.2431C>T c.2126C>T (p.Pro709Leu) c.2537C>T (p.Pro846Leu) c.*2179C>T (n.*2179C>T) n.2562C>T c.-8C>T (n.-8C>T) n.3010C>T c.2459C>T (p.Pro820Leu) c.655+2474C>T (n.655+2474C>T) c.1168-797C>T (n.1168-797C>T) c.2390C>T (p.Pro797Leu) c.2453C>T (p.Pro818Leu) c.2441C>T (p.Pro814Leu) | |
2 | g.144398725G>C | CA348708230 | ZEB2 | c.*2311C>G (n.*2311C>G) c.1685C>G (p.Pro562Arg) c.2462C>G (p.Pro821Arg) n.2431C>G c.2126C>G (p.Pro709Arg) c.2537C>G (p.Pro846Arg) c.*2179C>G (n.*2179C>G) n.2562C>G c.-8C>G (n.-8C>G) n.3010C>G c.2459C>G (p.Pro820Arg) c.655+2474C>G (n.655+2474C>G) c.1168-797C>G (n.1168-797C>G) c.2390C>G (p.Pro797Arg) c.2453C>G (p.Pro818Arg) c.2441C>G (p.Pro814Arg) | |
2 | g.144398725G>T | CA348708231 | ZEB2 | c.*2311C>A (n.*2311C>A) c.1685C>A (p.Pro562Gln) c.2462C>A (p.Pro821Gln) n.2431C>A c.2126C>A (p.Pro709Gln) c.2537C>A (p.Pro846Gln) c.*2179C>A (n.*2179C>A) n.2562C>A c.-8C>A (n.-8C>A) n.3010C>A c.2459C>A (p.Pro820Gln) c.655+2474C>A (n.655+2474C>A) c.1168-797C>A (n.1168-797C>A) c.2390C>A (p.Pro797Gln) c.2453C>A (p.Pro818Gln) c.2441C>A (p.Pro814Gln) | COSMIC |
2 | g.144398726G>A | CA348708232 | ZEB2 | c.*2310C>T (n.*2310C>T) c.1684C>T (p.Pro562Ser) c.2461C>T (p.Pro821Ser) n.2430C>T c.2125C>T (p.Pro709Ser) c.2536C>T (p.Pro846Ser) c.*2178C>T (n.*2178C>T) n.2561C>T c.-9C>T (n.-9C>T) n.3009C>T c.2458C>T (p.Pro820Ser) c.655+2473C>T (n.655+2473C>T) c.1168-798C>T (n.1168-798C>T) c.2389C>T (p.Pro797Ser) c.2452C>T (p.Pro818Ser) c.2440C>T (p.Pro814Ser) | |
2 | g.144398726G>C | CA348708233 | ZEB2 | c.*2310C>G (n.*2310C>G) c.1684C>G (p.Pro562Ala) c.2461C>G (p.Pro821Ala) n.2430C>G c.2125C>G (p.Pro709Ala) c.2536C>G (p.Pro846Ala) c.*2178C>G (n.*2178C>G) n.2561C>G c.-9C>G (n.-9C>G) n.3009C>G c.2458C>G (p.Pro820Ala) c.655+2473C>G (n.655+2473C>G) c.1168-798C>G (n.1168-798C>G) c.2389C>G (p.Pro797Ala) c.2452C>G (p.Pro818Ala) c.2440C>G (p.Pro814Ala) | |
2 | g.144398726G= | CA1294885009 | ZEB2 | c.*2310C= (n.*2310C=) c.1684C= (p.Pro562=) c.2461C= (p.Pro821=) n.2430C= c.2125C= (p.Pro709=) c.2536C= (p.Pro846=) c.*2178C= (n.*2178C=) n.2561C= c.-9C= (n.-9C=) n.3009C= c.2458C= (p.Pro820=) c.655+2473C= (n.655+2473C=) c.1168-798C= (n.1168-798C=) c.2389C= (p.Pro797=) c.2452C= (p.Pro818=) c.2440C= (p.Pro814=) | |
2 | g.144398726G>T | CA57555046 | ZEB2 | c.*2310C>A (n.*2310C>A) c.1684C>A (p.Pro562Thr) c.2461C>A (p.Pro821Thr) n.2430C>A c.2125C>A (p.Pro709Thr) c.2536C>A (p.Pro846Thr) c.*2178C>A (n.*2178C>A) n.2561C>A c.-9C>A (n.-9C>A) n.3009C>A c.2458C>A (p.Pro820Thr) c.655+2473C>A (n.655+2473C>A) c.1168-798C>A (n.1168-798C>A) c.2389C>A (p.Pro797Thr) c.2452C>A (p.Pro818Thr) c.2440C>A (p.Pro814Thr) | dbSNP |
2 | g.144398727T>A | CA348708234 | ZEB2 | c.*2309A>T (n.*2309A>T) c.1683A>T (p.Leu561Phe) c.2460A>T (p.Leu820Phe) n.2429A>T c.2124A>T (p.Leu708Phe) c.2535A>T (p.Leu845Phe) c.*2177A>T (n.*2177A>T) n.2560A>T c.-10A>T (n.-10A>T) n.3008A>T c.2457A>T (p.Leu819Phe) c.655+2472A>T (n.655+2472A>T) c.1168-799A>T (n.1168-799A>T) c.2388A>T (p.Leu796Phe) c.2451A>T (p.Leu817Phe) c.2439A>T (p.Leu813Phe) | |
2 | g.144398727T>C | CA429445298 | ZEB2 | c.*2309A>G (n.*2309A>G) c.1683A>G (p.Leu561=) c.2460A>G (p.Leu820=) n.2429A>G c.2124A>G (p.Leu708=) c.2535A>G (p.Leu845=) c.*2177A>G (n.*2177A>G) n.2560A>G c.-10A>G (n.-10A>G) n.3008A>G c.2457A>G (p.Leu819=) c.655+2472A>G (n.655+2472A>G) c.1168-799A>G (n.1168-799A>G) c.2388A>G (p.Leu796=) c.2451A>G (p.Leu817=) c.2439A>G (p.Leu813=) | |
2 | g.144398727T>G | CA348708235 | ZEB2 | c.*2309A>C (n.*2309A>C) c.1683A>C (p.Leu561Phe) c.2460A>C (p.Leu820Phe) n.2429A>C c.2124A>C (p.Leu708Phe) c.2535A>C (p.Leu845Phe) c.*2177A>C (n.*2177A>C) n.2560A>C c.-10A>C (n.-10A>C) n.3008A>C c.2457A>C (p.Leu819Phe) c.655+2472A>C (n.655+2472A>C) c.1168-799A>C (n.1168-799A>C) c.2388A>C (p.Leu796Phe) c.2451A>C (p.Leu817Phe) c.2439A>C (p.Leu813Phe) | |
2 | g.144398728A>C | CA348708236 | ZEB2 | c.*2308T>G (n.*2308T>G) c.1682T>G (p.Leu561Ter) c.2459T>G (p.Leu820Ter) n.2428T>G c.2123T>G (p.Leu708Ter) c.2534T>G (p.Leu845Ter) c.*2176T>G (n.*2176T>G) n.2559T>G c.-11T>G (n.-11T>G) n.3007T>G c.2456T>G (p.Leu819Ter) c.655+2471T>G (n.655+2471T>G) c.1168-800T>G (n.1168-800T>G) c.2387T>G (p.Leu796Ter) c.2450T>G (p.Leu817Ter) c.2438T>G (p.Leu813Ter) | |
2 | g.144398728A>G | CA348708237 | ZEB2 | c.*2308T>C (n.*2308T>C) c.1682T>C (p.Leu561Ser) c.2459T>C (p.Leu820Ser) n.2428T>C c.2123T>C (p.Leu708Ser) c.2534T>C (p.Leu845Ser) c.*2176T>C (n.*2176T>C) n.2559T>C c.-11T>C (n.-11T>C) n.3007T>C c.2456T>C (p.Leu819Ser) c.655+2471T>C (n.655+2471T>C) c.1168-800T>C (n.1168-800T>C) c.2387T>C (p.Leu796Ser) c.2450T>C (p.Leu817Ser) c.2438T>C (p.Leu813Ser) | |
2 | g.144398728A>T | CA348708238 | ZEB2 | c.*2308T>A (n.*2308T>A) c.1682T>A (p.Leu561Ter) c.2459T>A (p.Leu820Ter) n.2428T>A c.2123T>A (p.Leu708Ter) c.2534T>A (p.Leu845Ter) c.*2176T>A (n.*2176T>A) n.2559T>A c.-11T>A (n.-11T>A) n.3007T>A c.2456T>A (p.Leu819Ter) c.655+2471T>A (n.655+2471T>A) c.1168-800T>A (n.1168-800T>A) c.2387T>A (p.Leu796Ter) c.2450T>A (p.Leu817Ter) c.2438T>A (p.Leu813Ter) | |
2 | g.144398729A>C | CA348708239 | ZEB2 | c.*2307T>G (n.*2307T>G) c.1681T>G (p.Leu561Val) c.2458T>G (p.Leu820Val) n.2427T>G c.2122T>G (p.Leu708Val) c.2533T>G (p.Leu845Val) c.*2175T>G (n.*2175T>G) n.2558T>G c.-12T>G (n.-12T>G) n.3006T>G c.2455T>G (p.Leu819Val) c.655+2470T>G (n.655+2470T>G) c.1168-801T>G (n.1168-801T>G) c.2386T>G (p.Leu796Val) c.2449T>G (p.Leu817Val) c.2437T>G (p.Leu813Val) | COSMIC |
2 | g.144398729A>G | CA429445302 | ZEB2 | c.*2307T>C (n.*2307T>C) c.1681T>C (p.Leu561=) c.2458T>C (p.Leu820=) n.2427T>C c.2122T>C (p.Leu708=) c.2533T>C (p.Leu845=) c.*2175T>C (n.*2175T>C) n.2558T>C c.-12T>C (n.-12T>C) n.3006T>C c.2455T>C (p.Leu819=) c.655+2470T>C (n.655+2470T>C) c.1168-801T>C (n.1168-801T>C) c.2386T>C (p.Leu796=) c.2449T>C (p.Leu817=) c.2437T>C (p.Leu813=) | |
2 | g.144398729A>T | CA348708240 | ZEB2 | c.*2307T>A (n.*2307T>A) c.1681T>A (p.Leu561Ile) c.2458T>A (p.Leu820Ile) n.2427T>A c.2122T>A (p.Leu708Ile) c.2533T>A (p.Leu845Ile) c.*2175T>A (n.*2175T>A) n.2558T>A c.-12T>A (n.-12T>A) n.3006T>A c.2455T>A (p.Leu819Ile) c.655+2470T>A (n.655+2470T>A) c.1168-801T>A (n.1168-801T>A) c.2386T>A (p.Leu796Ile) c.2449T>A (p.Leu817Ile) c.2437T>A (p.Leu813Ile) | |
2 | g.144398730T>A | CA429445304 | ZEB2 | c.*2306A>T (n.*2306A>T) c.1680A>T (p.Ser560=) c.2457A>T (p.Ser819=) n.2426A>T c.2121A>T (p.Ser707=) c.2532A>T (p.Ser844=) c.*2174A>T (n.*2174A>T) n.2557A>T c.-13A>T (n.-13A>T) n.3005A>T c.2454A>T (p.Ser818=) c.655+2469A>T (n.655+2469A>T) c.1168-802A>T (n.1168-802A>T) c.2385A>T (p.Ser795=) c.2448A>T (p.Ser816=) c.2436A>T (p.Ser812=) | |
2 | g.144398730T>C | CA1898245 | ZEB2 | c.*2306A>G (n.*2306A>G) c.1680A>G (p.Ser560=) c.2457A>G (p.Ser819=) n.2426A>G c.2121A>G (p.Ser707=) c.2532A>G (p.Ser844=) c.*2174A>G (n.*2174A>G) n.2557A>G c.-13A>G (n.-13A>G) n.3005A>G c.2454A>G (p.Ser818=) c.655+2469A>G (n.655+2469A>G) c.1168-802A>G (n.1168-802A>G) c.2385A>G (p.Ser795=) c.2448A>G (p.Ser816=) c.2436A>G (p.Ser812=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.144398730T>G | CA429445305 | ZEB2 | c.*2306A>C (n.*2306A>C) c.1680A>C (p.Ser560=) c.2457A>C (p.Ser819=) n.2426A>C c.2121A>C (p.Ser707=) c.2532A>C (p.Ser844=) c.*2174A>C (n.*2174A>C) n.2557A>C c.-13A>C (n.-13A>C) n.3005A>C c.2454A>C (p.Ser818=) c.655+2469A>C (n.655+2469A>C) c.1168-802A>C (n.1168-802A>C) c.2385A>C (p.Ser795=) c.2448A>C (p.Ser816=) c.2436A>C (p.Ser812=) | |
2 | g.144398730T= | CA1294885010 | ZEB2 | c.*2306A= (n.*2306A=) c.1680A= (p.Ser560=) c.2457A= (p.Ser819=) n.2426A= c.2121A= (p.Ser707=) c.2532A= (p.Ser844=) c.*2174A= (n.*2174A=) n.2557A= c.-13A= (n.-13A=) n.3005A= c.2454A= (p.Ser818=) c.655+2469A= (n.655+2469A=) c.1168-802A= (n.1168-802A=) c.2385A= (p.Ser795=) c.2448A= (p.Ser816=) c.2436A= (p.Ser812=) | |
2 | g.144398731G>A | CA348708242 | ZEB2 | c.*2305C>T (n.*2305C>T) c.1679C>T (p.Ser560Leu) c.2456C>T (p.Ser819Leu) n.2425C>T c.2120C>T (p.Ser707Leu) c.2531C>T (p.Ser844Leu) c.*2173C>T (n.*2173C>T) n.2556C>T c.-14C>T (n.-14C>T) n.3004C>T c.2453C>T (p.Ser818Leu) c.655+2468C>T (n.655+2468C>T) c.1168-803C>T (n.1168-803C>T) c.2384C>T (p.Ser795Leu) c.2447C>T (p.Ser816Leu) c.2435C>T (p.Ser812Leu) | |
2 | g.144398731G>C | CA348708243 | ZEB2 | c.*2305C>G (n.*2305C>G) c.1679C>G (p.Ser560Ter) c.2456C>G (p.Ser819Ter) n.2425C>G c.2120C>G (p.Ser707Ter) c.2531C>G (p.Ser844Ter) c.*2173C>G (n.*2173C>G) n.2556C>G c.-14C>G (n.-14C>G) n.3004C>G c.2453C>G (p.Ser818Ter) c.655+2468C>G (n.655+2468C>G) c.1168-803C>G (n.1168-803C>G) c.2384C>G (p.Ser795Ter) c.2447C>G (p.Ser816Ter) c.2435C>G (p.Ser812Ter) | |
2 | g.144398731G>T | CA348708241 | ZEB2 | c.*2305C>A (n.*2305C>A) c.1679C>A (p.Ser560Ter) c.2456C>A (p.Ser819Ter) n.2425C>A c.2120C>A (p.Ser707Ter) c.2531C>A (p.Ser844Ter) c.*2173C>A (n.*2173C>A) n.2556C>A c.-14C>A (n.-14C>A) n.3004C>A c.2453C>A (p.Ser818Ter) c.655+2468C>A (n.655+2468C>A) c.1168-803C>A (n.1168-803C>A) c.2384C>A (p.Ser795Ter) c.2447C>A (p.Ser816Ter) c.2435C>A (p.Ser812Ter) | |
2 | g.144398732A>C | CA348708246 | ZEB2 | c.*2304T>G (n.*2304T>G) c.1678T>G (p.Ser560Ala) c.2455T>G (p.Ser819Ala) n.2424T>G c.2119T>G (p.Ser707Ala) c.2530T>G (p.Ser844Ala) c.*2172T>G (n.*2172T>G) n.2555T>G c.-15T>G (n.-15T>G) n.3003T>G c.2452T>G (p.Ser818Ala) c.655+2467T>G (n.655+2467T>G) c.1168-804T>G (n.1168-804T>G) c.2383T>G (p.Ser795Ala) c.2446T>G (p.Ser816Ala) c.2434T>G (p.Ser812Ala) | |
2 | g.144398732A>G | CA348708244 | ZEB2 | c.*2304T>C (n.*2304T>C) c.1678T>C (p.Ser560Pro) c.2455T>C (p.Ser819Pro) n.2424T>C c.2119T>C (p.Ser707Pro) c.2530T>C (p.Ser844Pro) c.*2172T>C (n.*2172T>C) n.2555T>C c.-15T>C (n.-15T>C) n.3003T>C c.2452T>C (p.Ser818Pro) c.655+2467T>C (n.655+2467T>C) c.1168-804T>C (n.1168-804T>C) c.2383T>C (p.Ser795Pro) c.2446T>C (p.Ser816Pro) c.2434T>C (p.Ser812Pro) | |
2 | g.144398732A>T | CA348708245 | ZEB2 | c.*2304T>A (n.*2304T>A) c.1678T>A (p.Ser560Thr) c.2455T>A (p.Ser819Thr) n.2424T>A c.2119T>A (p.Ser707Thr) c.2530T>A (p.Ser844Thr) c.*2172T>A (n.*2172T>A) n.2555T>A c.-15T>A (n.-15T>A) n.3003T>A c.2452T>A (p.Ser818Thr) c.655+2467T>A (n.655+2467T>A) c.1168-804T>A (n.1168-804T>A) c.2383T>A (p.Ser795Thr) c.2446T>A (p.Ser816Thr) c.2434T>A (p.Ser812Thr) | |
2 | g.144398733C>A | CA348708247 | ZEB2 | c.*2303G>T (n.*2303G>T) c.1677G>T (p.Leu559Phe) c.2454G>T (p.Leu818Phe) n.2423G>T c.2118G>T (p.Leu706Phe) c.2529G>T (p.Leu843Phe) c.*2171G>T (n.*2171G>T) n.2554G>T c.-16G>T (n.-16G>T) n.3002G>T c.2451G>T (p.Leu817Phe) c.655+2466G>T (n.655+2466G>T) c.1168-805G>T (n.1168-805G>T) c.2382G>T (p.Leu794Phe) c.2445G>T (p.Leu815Phe) c.2433G>T (p.Leu811Phe) | |
2 | g.144398733C= | CA1294885011 | ZEB2 | c.*2303G= (n.*2303G=) c.1677G= (p.Leu559=) c.2454G= (p.Leu818=) n.2423G= c.2118G= (p.Leu706=) c.2529G= (p.Leu843=) c.*2171G= (n.*2171G=) n.2554G= c.-16G= (n.-16G=) n.3002G= c.2451G= (p.Leu817=) c.655+2466G= (n.655+2466G=) c.1168-805G= (n.1168-805G=) c.2382G= (p.Leu794=) c.2445G= (p.Leu815=) c.2433G= (p.Leu811=) | |
2 | g.144398733C>G | CA348708248 | ZEB2 | c.*2303G>C (n.*2303G>C) c.1677G>C (p.Leu559Phe) c.2454G>C (p.Leu818Phe) n.2423G>C c.2118G>C (p.Leu706Phe) c.2529G>C (p.Leu843Phe) c.*2171G>C (n.*2171G>C) n.2554G>C c.-16G>C (n.-16G>C) n.3002G>C c.2451G>C (p.Leu817Phe) c.655+2466G>C (n.655+2466G>C) c.1168-805G>C (n.1168-805G>C) c.2382G>C (p.Leu794Phe) c.2445G>C (p.Leu815Phe) c.2433G>C (p.Leu811Phe) | |
2 | g.144398733C>T | CA429445309 | ZEB2 | c.*2303G>A (n.*2303G>A) c.1677G>A (p.Leu559=) c.2454G>A (p.Leu818=) n.2423G>A c.2118G>A (p.Leu706=) c.2529G>A (p.Leu843=) c.*2171G>A (n.*2171G>A) n.2554G>A c.-16G>A (n.-16G>A) n.3002G>A c.2451G>A (p.Leu817=) c.655+2466G>A (n.655+2466G>A) c.1168-805G>A (n.1168-805G>A) c.2382G>A (p.Leu794=) c.2445G>A (p.Leu815=) c.2433G>A (p.Leu811=) | |
2 | g.144398734A>C | CA348708249 | ZEB2 | c.*2302T>G (n.*2302T>G) c.1676T>G (p.Leu559Trp) c.2453T>G (p.Leu818Trp) n.2422T>G c.2117T>G (p.Leu706Trp) c.2528T>G (p.Leu843Trp) c.*2170T>G (n.*2170T>G) n.2553T>G c.-17T>G (n.-17T>G) n.3001T>G c.2450T>G (p.Leu817Trp) c.655+2465T>G (n.655+2465T>G) c.1167+803T>G (n.1167+803T>G) c.2381T>G (p.Leu794Trp) c.2444T>G (p.Leu815Trp) c.2432T>G (p.Leu811Trp) | |
2 | g.144398734A>G | CA348708250 | ZEB2 | c.*2302T>C (n.*2302T>C) c.1676T>C (p.Leu559Ser) c.2453T>C (p.Leu818Ser) n.2422T>C c.2117T>C (p.Leu706Ser) c.2528T>C (p.Leu843Ser) c.*2170T>C (n.*2170T>C) n.2553T>C c.-17T>C (n.-17T>C) n.3001T>C c.2450T>C (p.Leu817Ser) c.655+2465T>C (n.655+2465T>C) c.1167+803T>C (n.1167+803T>C) c.2381T>C (p.Leu794Ser) c.2444T>C (p.Leu815Ser) c.2432T>C (p.Leu811Ser) | |
2 | g.144398734A>T | CA348708251 | ZEB2 | c.*2302T>A (n.*2302T>A) c.1676T>A (p.Leu559Ter) c.2453T>A (p.Leu818Ter) n.2422T>A c.2117T>A (p.Leu706Ter) c.2528T>A (p.Leu843Ter) c.*2170T>A (n.*2170T>A) n.2553T>A c.-17T>A (n.-17T>A) n.3001T>A c.2450T>A (p.Leu817Ter) c.655+2465T>A (n.655+2465T>A) c.1167+803T>A (n.1167+803T>A) c.2381T>A (p.Leu794Ter) c.2444T>A (p.Leu815Ter) c.2432T>A (p.Leu811Ter) | |
2 | g.144398735dup | CA253280 | ZEB2 | c.*2302dup (n.*2302dup) c.1676dup (p.Leu559PhefsTer23) c.2453dup (p.Leu818PhefsTer23) n.2422dup c.2117dup (p.Leu706PhefsTer23) c.2528dup (p.Leu843PhefsTer23) c.*2170dup (n.*2170dup) n.2553dup c.-17dup (n.-17dup) n.3001dup c.2450dup (p.Leu817PhefsTer23) c.655+2465dup (n.655+2465dup) c.1167+803dup (n.1167+803dup) c.2381dup (p.Leu794PhefsTer23) c.2444dup (p.Leu815PhefsTer23) c.2432dup (p.Leu811PhefsTer23) | ClinVar dbSNP |