UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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.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 |