| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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) | 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) |