Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.144398612G>A | CA348707915 | ZEB2 | c.*2424C>T (n.*2424C>T) c.1798C>T (p.Pro600Ser) c.2575C>T (p.Pro859Ser) n.2544C>T c.2239C>T (p.Pro747Ser) c.2650C>T (p.Pro884Ser) c.*2292C>T (n.*2292C>T) n.2675C>T c.106C>T (p.Pro36Ser) c.2572C>T (p.Pro858Ser) c.655+2587C>T (n.655+2587C>T) c.1168-684C>T (n.1168-684C>T) c.2503C>T (p.Pro835Ser) c.2566C>T (p.Pro856Ser) c.2554C>T (p.Pro852Ser) | |
2 | g.144398612G>C | CA348707917 | ZEB2 | c.*2424C>G (n.*2424C>G) c.1798C>G (p.Pro600Ala) c.2575C>G (p.Pro859Ala) n.2544C>G c.2239C>G (p.Pro747Ala) c.2650C>G (p.Pro884Ala) c.*2292C>G (n.*2292C>G) n.2675C>G c.106C>G (p.Pro36Ala) c.2572C>G (p.Pro858Ala) c.655+2587C>G (n.655+2587C>G) c.1168-684C>G (n.1168-684C>G) c.2503C>G (p.Pro835Ala) c.2566C>G (p.Pro856Ala) c.2554C>G (p.Pro852Ala) | |
2 | g.144398612G>T | CA348707918 | ZEB2 | c.*2424C>A (n.*2424C>A) c.1798C>A (p.Pro600Thr) c.2575C>A (p.Pro859Thr) n.2544C>A c.2239C>A (p.Pro747Thr) c.2650C>A (p.Pro884Thr) c.*2292C>A (n.*2292C>A) n.2675C>A c.106C>A (p.Pro36Thr) c.2572C>A (p.Pro858Thr) c.655+2587C>A (n.655+2587C>A) c.1168-684C>A (n.1168-684C>A) c.2503C>A (p.Pro835Thr) c.2566C>A (p.Pro856Thr) c.2554C>A (p.Pro852Thr) | |
2 | g.144398613C>A | CA348707921 | ZEB2 | c.*2423G>T (n.*2423G>T) c.1797G>T (p.Glu599Asp) c.2574G>T (p.Glu858Asp) n.2543G>T c.2238G>T (p.Glu746Asp) c.2649G>T (p.Glu883Asp) c.*2291G>T (n.*2291G>T) n.2674G>T c.105G>T (p.Glu35Asp) c.2571G>T (p.Glu857Asp) c.655+2586G>T (n.655+2586G>T) c.1168-685G>T (n.1168-685G>T) c.2502G>T (p.Glu834Asp) c.2565G>T (p.Glu855Asp) c.2553G>T (p.Glu851Asp) | |
2 | g.144398613C>G | CA348707922 | ZEB2 | c.*2423G>C (n.*2423G>C) c.1797G>C (p.Glu599Asp) c.2574G>C (p.Glu858Asp) n.2543G>C c.2238G>C (p.Glu746Asp) c.2649G>C (p.Glu883Asp) c.*2291G>C (n.*2291G>C) n.2674G>C c.105G>C (p.Glu35Asp) c.2571G>C (p.Glu857Asp) c.655+2586G>C (n.655+2586G>C) c.1168-685G>C (n.1168-685G>C) c.2502G>C (p.Glu834Asp) c.2565G>C (p.Glu855Asp) c.2553G>C (p.Glu851Asp) | |
2 | g.144398613C>T | CA429445599 | ZEB2 | c.*2423G>A (n.*2423G>A) c.1797G>A (p.Glu599=) c.2574G>A (p.Glu858=) n.2543G>A c.2238G>A (p.Glu746=) c.2649G>A (p.Glu883=) c.*2291G>A (n.*2291G>A) n.2674G>A c.105G>A (p.Glu35=) c.2571G>A (p.Glu857=) c.655+2586G>A (n.655+2586G>A) c.1168-685G>A (n.1168-685G>A) c.2502G>A (p.Glu834=) c.2565G>A (p.Glu855=) c.2553G>A (p.Glu851=) | gnomAD v4 |
2 | g.144398614T>A | CA348707925 | ZEB2 | c.*2422A>T (n.*2422A>T) c.1796A>T (p.Glu599Val) c.2573A>T (p.Glu858Val) n.2542A>T c.2237A>T (p.Glu746Val) c.2648A>T (p.Glu883Val) c.*2290A>T (n.*2290A>T) n.2673A>T c.104A>T (p.Glu35Val) c.2570A>T (p.Glu857Val) c.655+2585A>T (n.655+2585A>T) c.1168-686A>T (n.1168-686A>T) c.2501A>T (p.Glu834Val) c.2564A>T (p.Glu855Val) c.2552A>T (p.Glu851Val) | |
2 | g.144398614T>C | CA348707926 | ZEB2 | c.*2422A>G (n.*2422A>G) c.1796A>G (p.Glu599Gly) c.2573A>G (p.Glu858Gly) n.2542A>G c.2237A>G (p.Glu746Gly) c.2648A>G (p.Glu883Gly) c.*2290A>G (n.*2290A>G) n.2673A>G c.104A>G (p.Glu35Gly) c.2570A>G (p.Glu857Gly) c.655+2585A>G (n.655+2585A>G) c.1168-686A>G (n.1168-686A>G) c.2501A>G (p.Glu834Gly) c.2564A>G (p.Glu855Gly) c.2552A>G (p.Glu851Gly) | |
2 | g.144398614T>G | CA348707928 | ZEB2 | c.*2422A>C (n.*2422A>C) c.1796A>C (p.Glu599Ala) c.2573A>C (p.Glu858Ala) n.2542A>C c.2237A>C (p.Glu746Ala) c.2648A>C (p.Glu883Ala) c.*2290A>C (n.*2290A>C) n.2673A>C c.104A>C (p.Glu35Ala) c.2570A>C (p.Glu857Ala) c.655+2585A>C (n.655+2585A>C) c.1168-686A>C (n.1168-686A>C) c.2501A>C (p.Glu834Ala) c.2564A>C (p.Glu855Ala) c.2552A>C (p.Glu851Ala) | |
2 | g.144398615C>A | CA348707933 | ZEB2 | c.*2421G>T (n.*2421G>T) c.1795G>T (p.Glu599Ter) c.2572G>T (p.Glu858Ter) n.2541G>T c.2236G>T (p.Glu746Ter) c.2647G>T (p.Glu883Ter) c.*2289G>T (n.*2289G>T) n.2672G>T c.103G>T (p.Glu35Ter) c.2569G>T (p.Glu857Ter) c.655+2584G>T (n.655+2584G>T) c.1168-687G>T (n.1168-687G>T) c.2500G>T (p.Glu834Ter) c.2563G>T (p.Glu855Ter) c.2551G>T (p.Glu851Ter) | |
2 | g.144398615C>G | CA348707934 | ZEB2 | c.*2421G>C (n.*2421G>C) c.1795G>C (p.Glu599Gln) c.2572G>C (p.Glu858Gln) n.2541G>C c.2236G>C (p.Glu746Gln) c.2647G>C (p.Glu883Gln) c.*2289G>C (n.*2289G>C) n.2672G>C c.103G>C (p.Glu35Gln) c.2569G>C (p.Glu857Gln) c.655+2584G>C (n.655+2584G>C) c.1168-687G>C (n.1168-687G>C) c.2500G>C (p.Glu834Gln) c.2563G>C (p.Glu855Gln) c.2551G>C (p.Glu851Gln) | |
2 | g.144398615C>T | CA348707931 | ZEB2 | c.*2421G>A (n.*2421G>A) c.1795G>A (p.Glu599Lys) c.2572G>A (p.Glu858Lys) n.2541G>A c.2236G>A (p.Glu746Lys) c.2647G>A (p.Glu883Lys) c.*2289G>A (n.*2289G>A) n.2672G>A c.103G>A (p.Glu35Lys) c.2569G>A (p.Glu857Lys) c.655+2584G>A (n.655+2584G>A) c.1168-687G>A (n.1168-687G>A) c.2500G>A (p.Glu834Lys) c.2563G>A (p.Glu855Lys) c.2551G>A (p.Glu851Lys) | gnomAD v4 |
2 | g.144398616A= | CA1294884963 | ZEB2 | c.*2420T= (n.*2420T=) c.1794T= (p.Asp598=) c.2571T= (p.Asp857=) n.2540T= c.2235T= (p.Asp745=) c.2646T= (p.Asp882=) c.*2288T= (n.*2288T=) n.2671T= c.102T= (p.Asp34=) c.2568T= (p.Asp856=) c.655+2583T= (n.655+2583T=) c.1168-688T= (n.1168-688T=) c.2499T= (p.Asp833=) c.2562T= (p.Asp854=) c.2550T= (p.Asp850=) | |
2 | g.144398616A>C | CA348707936 | ZEB2 | c.*2420T>G (n.*2420T>G) c.1794T>G (p.Asp598Glu) c.2571T>G (p.Asp857Glu) n.2540T>G c.2235T>G (p.Asp745Glu) c.2646T>G (p.Asp882Glu) c.*2288T>G (n.*2288T>G) n.2671T>G c.102T>G (p.Asp34Glu) c.2568T>G (p.Asp856Glu) c.655+2583T>G (n.655+2583T>G) c.1168-688T>G (n.1168-688T>G) c.2499T>G (p.Asp833Glu) c.2562T>G (p.Asp854Glu) c.2550T>G (p.Asp850Glu) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.144398616A>G | CA429445605 | ZEB2 | c.*2420T>C (n.*2420T>C) c.1794T>C (p.Asp598=) c.2571T>C (p.Asp857=) n.2540T>C c.2235T>C (p.Asp745=) c.2646T>C (p.Asp882=) c.*2288T>C (n.*2288T>C) n.2671T>C c.102T>C (p.Asp34=) c.2568T>C (p.Asp856=) c.655+2583T>C (n.655+2583T>C) c.1168-688T>C (n.1168-688T>C) c.2499T>C (p.Asp833=) c.2562T>C (p.Asp854=) c.2550T>C (p.Asp850=) | |
2 | g.144398616A>T | CA348707937 | ZEB2 | c.*2420T>A (n.*2420T>A) c.1794T>A (p.Asp598Glu) c.2571T>A (p.Asp857Glu) n.2540T>A c.2235T>A (p.Asp745Glu) c.2646T>A (p.Asp882Glu) c.*2288T>A (n.*2288T>A) n.2671T>A c.102T>A (p.Asp34Glu) c.2568T>A (p.Asp856Glu) c.655+2583T>A (n.655+2583T>A) c.1168-688T>A (n.1168-688T>A) c.2499T>A (p.Asp833Glu) c.2562T>A (p.Asp854Glu) c.2550T>A (p.Asp850Glu) | |
2 | g.144398617T>A | CA348707939 | ZEB2 | c.*2419A>T (n.*2419A>T) c.1793A>T (p.Asp598Val) c.2570A>T (p.Asp857Val) n.2539A>T c.2234A>T (p.Asp745Val) c.2645A>T (p.Asp882Val) c.*2287A>T (n.*2287A>T) n.2670A>T c.101A>T (p.Asp34Val) c.2567A>T (p.Asp856Val) c.655+2582A>T (n.655+2582A>T) c.1168-689A>T (n.1168-689A>T) c.2498A>T (p.Asp833Val) c.2561A>T (p.Asp854Val) c.2549A>T (p.Asp850Val) | dbSNP COSMIC |
2 | g.144398617T>C | CA348707941 | ZEB2 | c.*2419A>G (n.*2419A>G) c.1793A>G (p.Asp598Gly) c.2570A>G (p.Asp857Gly) n.2539A>G c.2234A>G (p.Asp745Gly) c.2645A>G (p.Asp882Gly) c.*2287A>G (n.*2287A>G) n.2670A>G c.101A>G (p.Asp34Gly) c.2567A>G (p.Asp856Gly) c.655+2582A>G (n.655+2582A>G) c.1168-689A>G (n.1168-689A>G) c.2498A>G (p.Asp833Gly) c.2561A>G (p.Asp854Gly) c.2549A>G (p.Asp850Gly) | gnomAD v4 |
2 | g.144398617T>G | CA348707942 | ZEB2 | c.*2419A>C (n.*2419A>C) c.1793A>C (p.Asp598Ala) c.2570A>C (p.Asp857Ala) n.2539A>C c.2234A>C (p.Asp745Ala) c.2645A>C (p.Asp882Ala) c.*2287A>C (n.*2287A>C) n.2670A>C c.101A>C (p.Asp34Ala) c.2567A>C (p.Asp856Ala) c.655+2582A>C (n.655+2582A>C) c.1168-689A>C (n.1168-689A>C) c.2498A>C (p.Asp833Ala) c.2561A>C (p.Asp854Ala) c.2549A>C (p.Asp850Ala) | |
2 | g.144398617T= | CA1294884964 | ZEB2 | c.*2419A= (n.*2419A=) c.1793A= (p.Asp598=) c.2570A= (p.Asp857=) n.2539A= c.2234A= (p.Asp745=) c.2645A= (p.Asp882=) c.*2287A= (n.*2287A=) n.2670A= c.101A= (p.Asp34=) c.2567A= (p.Asp856=) c.655+2582A= (n.655+2582A=) c.1168-689A= (n.1168-689A=) c.2498A= (p.Asp833=) c.2561A= (p.Asp854=) c.2549A= (p.Asp850=) | |
2 | g.144398618C>A | CA348707943 | ZEB2 | c.*2418G>T (n.*2418G>T) c.1792G>T (p.Asp598Tyr) c.2569G>T (p.Asp857Tyr) n.2538G>T c.2233G>T (p.Asp745Tyr) c.2644G>T (p.Asp882Tyr) c.*2286G>T (n.*2286G>T) n.2669G>T c.100G>T (p.Asp34Tyr) c.2566G>T (p.Asp856Tyr) c.655+2581G>T (n.655+2581G>T) c.1168-690G>T (n.1168-690G>T) c.2497G>T (p.Asp833Tyr) c.2560G>T (p.Asp854Tyr) c.2548G>T (p.Asp850Tyr) | |
2 | g.144398618C>G | CA348707944 | ZEB2 | c.*2418G>C (n.*2418G>C) c.1792G>C (p.Asp598His) c.2569G>C (p.Asp857His) n.2538G>C c.2233G>C (p.Asp745His) c.2644G>C (p.Asp882His) c.*2286G>C (n.*2286G>C) n.2669G>C c.100G>C (p.Asp34His) c.2566G>C (p.Asp856His) c.655+2581G>C (n.655+2581G>C) c.1168-690G>C (n.1168-690G>C) c.2497G>C (p.Asp833His) c.2560G>C (p.Asp854His) c.2548G>C (p.Asp850His) | |
2 | g.144398618C>T | CA348707945 | ZEB2 | c.*2418G>A (n.*2418G>A) c.1792G>A (p.Asp598Asn) c.2569G>A (p.Asp857Asn) n.2538G>A c.2233G>A (p.Asp745Asn) c.2644G>A (p.Asp882Asn) c.*2286G>A (n.*2286G>A) n.2669G>A c.100G>A (p.Asp34Asn) c.2566G>A (p.Asp856Asn) c.655+2581G>A (n.655+2581G>A) c.1168-690G>A (n.1168-690G>A) c.2497G>A (p.Asp833Asn) c.2560G>A (p.Asp854Asn) c.2548G>A (p.Asp850Asn) | |
2 | g.144398619T>A | CA429445609 | ZEB2 | c.*2417A>T (n.*2417A>T) c.1791A>T (p.Ser597=) c.2568A>T (p.Ser856=) n.2537A>T c.2232A>T (p.Ser744=) c.2643A>T (p.Ser881=) c.*2285A>T (n.*2285A>T) n.2668A>T c.99A>T (p.Ser33=) c.2565A>T (p.Ser855=) c.655+2580A>T (n.655+2580A>T) c.1168-691A>T (n.1168-691A>T) c.2496A>T (p.Ser832=) c.2559A>T (p.Ser853=) c.2547A>T (p.Ser849=) | |
2 | g.144398619T>C | CA429445611 | ZEB2 | c.*2417A>G (n.*2417A>G) c.1791A>G (p.Ser597=) c.2568A>G (p.Ser856=) n.2537A>G c.2232A>G (p.Ser744=) c.2643A>G (p.Ser881=) c.*2285A>G (n.*2285A>G) n.2668A>G c.99A>G (p.Ser33=) c.2565A>G (p.Ser855=) c.655+2580A>G (n.655+2580A>G) c.1168-691A>G (n.1168-691A>G) c.2496A>G (p.Ser832=) c.2559A>G (p.Ser853=) c.2547A>G (p.Ser849=) | |
2 | g.144398619T>G | CA429445612 | ZEB2 | c.*2417A>C (n.*2417A>C) c.1791A>C (p.Ser597=) c.2568A>C (p.Ser856=) n.2537A>C c.2232A>C (p.Ser744=) c.2643A>C (p.Ser881=) c.*2285A>C (n.*2285A>C) n.2668A>C c.99A>C (p.Ser33=) c.2565A>C (p.Ser855=) c.655+2580A>C (n.655+2580A>C) c.1168-691A>C (n.1168-691A>C) c.2496A>C (p.Ser832=) c.2559A>C (p.Ser853=) c.2547A>C (p.Ser849=) | |
2 | g.144398620G>A | CA348707947 | ZEB2 | c.*2416C>T (n.*2416C>T) c.1790C>T (p.Ser597Leu) c.2567C>T (p.Ser856Leu) n.2536C>T c.2231C>T (p.Ser744Leu) c.2642C>T (p.Ser881Leu) c.*2284C>T (n.*2284C>T) n.2667C>T c.98C>T (p.Ser33Leu) c.2564C>T (p.Ser855Leu) c.655+2579C>T (n.655+2579C>T) c.1168-692C>T (n.1168-692C>T) c.2495C>T (p.Ser832Leu) c.2558C>T (p.Ser853Leu) c.2546C>T (p.Ser849Leu) | |
2 | g.144398620G>C | CA348707949 | ZEB2 | c.*2416C>G (n.*2416C>G) c.1790C>G (p.Ser597Ter) c.2567C>G (p.Ser856Ter) n.2536C>G c.2231C>G (p.Ser744Ter) c.2642C>G (p.Ser881Ter) c.*2284C>G (n.*2284C>G) n.2667C>G c.98C>G (p.Ser33Ter) c.2564C>G (p.Ser855Ter) c.655+2579C>G (n.655+2579C>G) c.1168-692C>G (n.1168-692C>G) c.2495C>G (p.Ser832Ter) c.2558C>G (p.Ser853Ter) c.2546C>G (p.Ser849Ter) | |
2 | g.144398620G>T | CA348707951 | ZEB2 | c.*2416C>A (n.*2416C>A) c.1790C>A (p.Ser597Ter) c.2567C>A (p.Ser856Ter) n.2536C>A c.2231C>A (p.Ser744Ter) c.2642C>A (p.Ser881Ter) c.*2284C>A (n.*2284C>A) n.2667C>A c.98C>A (p.Ser33Ter) c.2564C>A (p.Ser855Ter) c.655+2579C>A (n.655+2579C>A) c.1168-692C>A (n.1168-692C>A) c.2495C>A (p.Ser832Ter) c.2558C>A (p.Ser853Ter) c.2546C>A (p.Ser849Ter) | |
2 | g.144398621A>C | CA348707957 | ZEB2 | c.*2415T>G (n.*2415T>G) c.1789T>G (p.Ser597Ala) c.2566T>G (p.Ser856Ala) n.2535T>G c.2230T>G (p.Ser744Ala) c.2641T>G (p.Ser881Ala) c.*2283T>G (n.*2283T>G) n.2666T>G c.97T>G (p.Ser33Ala) c.2563T>G (p.Ser855Ala) c.655+2578T>G (n.655+2578T>G) c.1168-693T>G (n.1168-693T>G) c.2494T>G (p.Ser832Ala) c.2557T>G (p.Ser853Ala) c.2545T>G (p.Ser849Ala) | |
2 | g.144398621A>G | CA348707955 | ZEB2 | c.*2415T>C (n.*2415T>C) c.1789T>C (p.Ser597Pro) c.2566T>C (p.Ser856Pro) n.2535T>C c.2230T>C (p.Ser744Pro) c.2641T>C (p.Ser881Pro) c.*2283T>C (n.*2283T>C) n.2666T>C c.97T>C (p.Ser33Pro) c.2563T>C (p.Ser855Pro) c.655+2578T>C (n.655+2578T>C) c.1168-693T>C (n.1168-693T>C) c.2494T>C (p.Ser832Pro) c.2557T>C (p.Ser853Pro) c.2545T>C (p.Ser849Pro) | |
2 | g.144398621A>T | CA348707953 | ZEB2 | c.*2415T>A (n.*2415T>A) c.1789T>A (p.Ser597Thr) c.2566T>A (p.Ser856Thr) n.2535T>A c.2230T>A (p.Ser744Thr) c.2641T>A (p.Ser881Thr) c.*2283T>A (n.*2283T>A) n.2666T>A c.97T>A (p.Ser33Thr) c.2563T>A (p.Ser855Thr) c.655+2578T>A (n.655+2578T>A) c.1168-693T>A (n.1168-693T>A) c.2494T>A (p.Ser832Thr) c.2557T>A (p.Ser853Thr) c.2545T>A (p.Ser849Thr) | |
2 | g.144398622G>A | CA429445618 | ZEB2 | c.*2414C>T (n.*2414C>T) c.1788C>T (p.Asn596=) c.2565C>T (p.Asn855=) n.2534C>T c.2229C>T (p.Asn743=) c.2640C>T (p.Asn880=) c.*2282C>T (n.*2282C>T) n.2665C>T c.96C>T (p.Asn32=) c.2562C>T (p.Asn854=) c.655+2577C>T (n.655+2577C>T) c.1168-694C>T (n.1168-694C>T) c.2493C>T (p.Asn831=) c.2556C>T (p.Asn852=) c.2544C>T (p.Asn848=) | gnomAD v4 |
2 | g.144398622G>C | CA57554960 | ZEB2 | c.*2414C>G (n.*2414C>G) c.1788C>G (p.Asn596Lys) c.2565C>G (p.Asn855Lys) n.2534C>G c.2229C>G (p.Asn743Lys) c.2640C>G (p.Asn880Lys) c.*2282C>G (n.*2282C>G) n.2665C>G c.96C>G (p.Asn32Lys) c.2562C>G (p.Asn854Lys) c.655+2577C>G (n.655+2577C>G) c.1168-694C>G (n.1168-694C>G) c.2493C>G (p.Asn831Lys) c.2556C>G (p.Asn852Lys) c.2544C>G (p.Asn848Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.144398622G= | CA1294884965 | ZEB2 | c.*2414C= (n.*2414C=) c.1788C= (p.Asn596=) c.2565C= (p.Asn855=) n.2534C= c.2229C= (p.Asn743=) c.2640C= (p.Asn880=) c.*2282C= (n.*2282C=) n.2665C= c.96C= (p.Asn32=) c.2562C= (p.Asn854=) c.655+2577C= (n.655+2577C=) c.1168-694C= (n.1168-694C=) c.2493C= (p.Asn831=) c.2556C= (p.Asn852=) c.2544C= (p.Asn848=) | |
2 | g.144398622G>T | CA348707960 | ZEB2 | c.*2414C>A (n.*2414C>A) c.1788C>A (p.Asn596Lys) c.2565C>A (p.Asn855Lys) n.2534C>A c.2229C>A (p.Asn743Lys) c.2640C>A (p.Asn880Lys) c.*2282C>A (n.*2282C>A) n.2665C>A c.96C>A (p.Asn32Lys) c.2562C>A (p.Asn854Lys) c.655+2577C>A (n.655+2577C>A) c.1168-694C>A (n.1168-694C>A) c.2493C>A (p.Asn831Lys) c.2556C>A (p.Asn852Lys) c.2544C>A (p.Asn848Lys) | |
2 | g.144398622_144398625del | CA2661333311 | ZEB2 | c.*2411_*2414del (n.*2411_*2414del) c.1785_1788del (p.Glu595AspfsTer6) c.2562_2565del (p.Glu854AspfsTer6) n.2531_2534del c.2226_2229del (p.Glu742AspfsTer6) c.2637_2640del (p.Glu879AspfsTer6) c.*2279_*2282del (n.*2279_*2282del) n.2662_2665del c.93_96del (p.Glu31AspfsTer6) c.2559_2562del (p.Glu853AspfsTer6) c.655+2574_655+2577del (n.655+2574_655+2577del) c.1168-697_1168-694del (n.1168-697_1168-694del) c.2490_2493del (p.Glu830AspfsTer6) c.2553_2556del (p.Glu851AspfsTer6) c.2541_2544del (p.Glu847AspfsTer6) | gnomAD v4 |
2 | g.144398623T>A | CA348707962 | ZEB2 | c.*2413A>T (n.*2413A>T) c.1787A>T (p.Asn596Ile) c.2564A>T (p.Asn855Ile) n.2533A>T c.2228A>T (p.Asn743Ile) c.2639A>T (p.Asn880Ile) c.*2281A>T (n.*2281A>T) n.2664A>T c.95A>T (p.Asn32Ile) c.2561A>T (p.Asn854Ile) c.655+2576A>T (n.655+2576A>T) c.1168-695A>T (n.1168-695A>T) c.2492A>T (p.Asn831Ile) c.2555A>T (p.Asn852Ile) c.2543A>T (p.Asn848Ile) | |
2 | g.144398623T>C | CA348707964 | ZEB2 | c.*2413A>G (n.*2413A>G) c.1787A>G (p.Asn596Ser) c.2564A>G (p.Asn855Ser) n.2533A>G c.2228A>G (p.Asn743Ser) c.2639A>G (p.Asn880Ser) c.*2281A>G (n.*2281A>G) n.2664A>G c.95A>G (p.Asn32Ser) c.2561A>G (p.Asn854Ser) c.655+2576A>G (n.655+2576A>G) c.1168-695A>G (n.1168-695A>G) c.2492A>G (p.Asn831Ser) c.2555A>G (p.Asn852Ser) c.2543A>G (p.Asn848Ser) | |
2 | g.144398623T>G | CA348707965 | ZEB2 | c.*2413A>C (n.*2413A>C) c.1787A>C (p.Asn596Thr) c.2564A>C (p.Asn855Thr) n.2533A>C c.2228A>C (p.Asn743Thr) c.2639A>C (p.Asn880Thr) c.*2281A>C (n.*2281A>C) n.2664A>C c.95A>C (p.Asn32Thr) c.2561A>C (p.Asn854Thr) c.655+2576A>C (n.655+2576A>C) c.1168-695A>C (n.1168-695A>C) c.2492A>C (p.Asn831Thr) c.2555A>C (p.Asn852Thr) c.2543A>C (p.Asn848Thr) | |
2 | g.144398624T>A | CA348707967 | ZEB2 | c.*2412A>T (n.*2412A>T) c.1786A>T (p.Asn596Tyr) c.2563A>T (p.Asn855Tyr) n.2532A>T c.2227A>T (p.Asn743Tyr) c.2638A>T (p.Asn880Tyr) c.*2280A>T (n.*2280A>T) n.2663A>T c.94A>T (p.Asn32Tyr) c.2560A>T (p.Asn854Tyr) c.655+2575A>T (n.655+2575A>T) c.1168-696A>T (n.1168-696A>T) c.2491A>T (p.Asn831Tyr) c.2554A>T (p.Asn852Tyr) c.2542A>T (p.Asn848Tyr) | |
2 | g.144398624T>C | CA348707969 | ZEB2 | c.*2412A>G (n.*2412A>G) c.1786A>G (p.Asn596Asp) c.2563A>G (p.Asn855Asp) n.2532A>G c.2227A>G (p.Asn743Asp) c.2638A>G (p.Asn880Asp) c.*2280A>G (n.*2280A>G) n.2663A>G c.94A>G (p.Asn32Asp) c.2560A>G (p.Asn854Asp) c.655+2575A>G (n.655+2575A>G) c.1168-696A>G (n.1168-696A>G) c.2491A>G (p.Asn831Asp) c.2554A>G (p.Asn852Asp) c.2542A>G (p.Asn848Asp) | |
2 | g.144398624T>G | CA348707971 | ZEB2 | c.*2412A>C (n.*2412A>C) c.1786A>C (p.Asn596His) c.2563A>C (p.Asn855His) n.2532A>C c.2227A>C (p.Asn743His) c.2638A>C (p.Asn880His) c.*2280A>C (n.*2280A>C) n.2663A>C c.94A>C (p.Asn32His) c.2560A>C (p.Asn854His) c.655+2575A>C (n.655+2575A>C) c.1168-696A>C (n.1168-696A>C) c.2491A>C (p.Asn831His) c.2554A>C (p.Asn852His) c.2542A>C (p.Asn848His) | |
2 | g.144398625T>A | CA348707973 | ZEB2 | c.*2411A>T (n.*2411A>T) c.1785A>T (p.Glu595Asp) c.2562A>T (p.Glu854Asp) n.2531A>T c.2226A>T (p.Glu742Asp) c.2637A>T (p.Glu879Asp) c.*2279A>T (n.*2279A>T) n.2662A>T c.93A>T (p.Glu31Asp) c.2559A>T (p.Glu853Asp) c.655+2574A>T (n.655+2574A>T) c.1168-697A>T (n.1168-697A>T) c.2490A>T (p.Glu830Asp) c.2553A>T (p.Glu851Asp) c.2541A>T (p.Glu847Asp) | |
2 | g.144398625T>C | CA429445626 | ZEB2 | c.*2411A>G (n.*2411A>G) c.1785A>G (p.Glu595=) c.2562A>G (p.Glu854=) n.2531A>G c.2226A>G (p.Glu742=) c.2637A>G (p.Glu879=) c.*2279A>G (n.*2279A>G) n.2662A>G c.93A>G (p.Glu31=) c.2559A>G (p.Glu853=) c.655+2574A>G (n.655+2574A>G) c.1168-697A>G (n.1168-697A>G) c.2490A>G (p.Glu830=) c.2553A>G (p.Glu851=) c.2541A>G (p.Glu847=) | |
2 | g.144398625T>G | CA348707974 | ZEB2 | c.*2411A>C (n.*2411A>C) c.1785A>C (p.Glu595Asp) c.2562A>C (p.Glu854Asp) n.2531A>C c.2226A>C (p.Glu742Asp) c.2637A>C (p.Glu879Asp) c.*2279A>C (n.*2279A>C) n.2662A>C c.93A>C (p.Glu31Asp) c.2559A>C (p.Glu853Asp) c.655+2574A>C (n.655+2574A>C) c.1168-697A>C (n.1168-697A>C) c.2490A>C (p.Glu830Asp) c.2553A>C (p.Glu851Asp) c.2541A>C (p.Glu847Asp) | |
2 | g.144398626T>A | CA348707977 | ZEB2 | c.*2410A>T (n.*2410A>T) c.1784A>T (p.Glu595Val) c.2561A>T (p.Glu854Val) n.2530A>T c.2225A>T (p.Glu742Val) c.2636A>T (p.Glu879Val) c.*2278A>T (n.*2278A>T) n.2661A>T c.92A>T (p.Glu31Val) c.2558A>T (p.Glu853Val) c.655+2573A>T (n.655+2573A>T) c.1168-698A>T (n.1168-698A>T) c.2489A>T (p.Glu830Val) c.2552A>T (p.Glu851Val) c.2540A>T (p.Glu847Val) | |
2 | g.144398626T>C | CA348707978 | ZEB2 | c.*2410A>G (n.*2410A>G) c.1784A>G (p.Glu595Gly) c.2561A>G (p.Glu854Gly) n.2530A>G c.2225A>G (p.Glu742Gly) c.2636A>G (p.Glu879Gly) c.*2278A>G (n.*2278A>G) n.2661A>G c.92A>G (p.Glu31Gly) c.2558A>G (p.Glu853Gly) c.655+2573A>G (n.655+2573A>G) c.1168-698A>G (n.1168-698A>G) c.2489A>G (p.Glu830Gly) c.2552A>G (p.Glu851Gly) c.2540A>G (p.Glu847Gly) | gnomAD v4 |
2 | g.144398626T>G | CA348707980 | ZEB2 | c.*2410A>C (n.*2410A>C) c.1784A>C (p.Glu595Ala) c.2561A>C (p.Glu854Ala) n.2530A>C c.2225A>C (p.Glu742Ala) c.2636A>C (p.Glu879Ala) c.*2278A>C (n.*2278A>C) n.2661A>C c.92A>C (p.Glu31Ala) c.2558A>C (p.Glu853Ala) c.655+2573A>C (n.655+2573A>C) c.1168-698A>C (n.1168-698A>C) c.2489A>C (p.Glu830Ala) c.2552A>C (p.Glu851Ala) c.2540A>C (p.Glu847Ala) | |
2 | g.144398627C>A | CA348707984 | ZEB2 | c.*2409G>T (n.*2409G>T) c.1783G>T (p.Glu595Ter) c.2560G>T (p.Glu854Ter) n.2529G>T c.2224G>T (p.Glu742Ter) c.2635G>T (p.Glu879Ter) c.*2277G>T (n.*2277G>T) n.2660G>T c.91G>T (p.Glu31Ter) c.2557G>T (p.Glu853Ter) c.655+2572G>T (n.655+2572G>T) c.1168-699G>T (n.1168-699G>T) c.2488G>T (p.Glu830Ter) c.2551G>T (p.Glu851Ter) c.2539G>T (p.Glu847Ter) | |
2 | g.144398627C>G | CA348707985 | ZEB2 | c.*2409G>C (n.*2409G>C) c.1783G>C (p.Glu595Gln) c.2560G>C (p.Glu854Gln) n.2529G>C c.2224G>C (p.Glu742Gln) c.2635G>C (p.Glu879Gln) c.*2277G>C (n.*2277G>C) n.2660G>C c.91G>C (p.Glu31Gln) c.2557G>C (p.Glu853Gln) c.655+2572G>C (n.655+2572G>C) c.1168-699G>C (n.1168-699G>C) c.2488G>C (p.Glu830Gln) c.2551G>C (p.Glu851Gln) c.2539G>C (p.Glu847Gln) | |
2 | g.144398627C>T | CA348707982 | ZEB2 | c.*2409G>A (n.*2409G>A) c.1783G>A (p.Glu595Lys) c.2560G>A (p.Glu854Lys) n.2529G>A c.2224G>A (p.Glu742Lys) c.2635G>A (p.Glu879Lys) c.*2277G>A (n.*2277G>A) n.2660G>A c.91G>A (p.Glu31Lys) c.2557G>A (p.Glu853Lys) c.655+2572G>A (n.655+2572G>A) c.1168-699G>A (n.1168-699G>A) c.2488G>A (p.Glu830Lys) c.2551G>A (p.Glu851Lys) c.2539G>A (p.Glu847Lys) | |
2 | g.144398628A= | CA1294884966 | ZEB2 | c.*2408T= (n.*2408T=) c.1782T= (p.Ser594=) c.2559T= (p.Ser853=) n.2528T= c.2223T= (p.Ser741=) c.2634T= (p.Ser878=) c.*2276T= (n.*2276T=) n.2659T= c.90T= (p.Ser30=) c.2556T= (p.Ser852=) c.655+2571T= (n.655+2571T=) c.1168-700T= (n.1168-700T=) c.2487T= (p.Ser829=) c.2550T= (p.Ser850=) c.2538T= (p.Ser846=) | |
2 | g.144398628A>C | CA1898231 | ZEB2 | c.*2408T>G (n.*2408T>G) c.1782T>G (p.Ser594=) c.2559T>G (p.Ser853=) n.2528T>G c.2223T>G (p.Ser741=) c.2634T>G (p.Ser878=) c.*2276T>G (n.*2276T>G) n.2659T>G c.90T>G (p.Ser30=) c.2556T>G (p.Ser852=) c.655+2571T>G (n.655+2571T>G) c.1168-700T>G (n.1168-700T>G) c.2487T>G (p.Ser829=) c.2550T>G (p.Ser850=) c.2538T>G (p.Ser846=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.144398628A>G | CA429445637 | ZEB2 | c.*2408T>C (n.*2408T>C) c.1782T>C (p.Ser594=) c.2559T>C (p.Ser853=) n.2528T>C c.2223T>C (p.Ser741=) c.2634T>C (p.Ser878=) c.*2276T>C (n.*2276T>C) n.2659T>C c.90T>C (p.Ser30=) c.2556T>C (p.Ser852=) c.655+2571T>C (n.655+2571T>C) c.1168-700T>C (n.1168-700T>C) c.2487T>C (p.Ser829=) c.2550T>C (p.Ser850=) c.2538T>C (p.Ser846=) | |
2 | g.144398628A>T | CA429445638 | ZEB2 | c.*2408T>A (n.*2408T>A) c.1782T>A (p.Ser594=) c.2559T>A (p.Ser853=) n.2528T>A c.2223T>A (p.Ser741=) c.2634T>A (p.Ser878=) c.*2276T>A (n.*2276T>A) n.2659T>A c.90T>A (p.Ser30=) c.2556T>A (p.Ser852=) c.655+2571T>A (n.655+2571T>A) c.1168-700T>A (n.1168-700T>A) c.2487T>A (p.Ser829=) c.2550T>A (p.Ser850=) c.2538T>A (p.Ser846=) | |
2 | g.144398629G>A | CA348707988 | ZEB2 | c.*2407C>T (n.*2407C>T) c.1781C>T (p.Ser594Phe) c.2558C>T (p.Ser853Phe) n.2527C>T c.2222C>T (p.Ser741Phe) c.2633C>T (p.Ser878Phe) c.*2275C>T (n.*2275C>T) n.2658C>T c.89C>T (p.Ser30Phe) c.2555C>T (p.Ser852Phe) c.655+2570C>T (n.655+2570C>T) c.1168-701C>T (n.1168-701C>T) c.2486C>T (p.Ser829Phe) c.2549C>T (p.Ser850Phe) c.2537C>T (p.Ser846Phe) | |
2 | g.144398629G>C | CA348707992 | ZEB2 | c.*2407C>G (n.*2407C>G) c.1781C>G (p.Ser594Cys) c.2558C>G (p.Ser853Cys) n.2527C>G c.2222C>G (p.Ser741Cys) c.2633C>G (p.Ser878Cys) c.*2275C>G (n.*2275C>G) n.2658C>G c.89C>G (p.Ser30Cys) c.2555C>G (p.Ser852Cys) c.655+2570C>G (n.655+2570C>G) c.1168-701C>G (n.1168-701C>G) c.2486C>G (p.Ser829Cys) c.2549C>G (p.Ser850Cys) c.2537C>G (p.Ser846Cys) | |
2 | g.144398629G>T | CA348707990 | ZEB2 | c.*2407C>A (n.*2407C>A) c.1781C>A (p.Ser594Tyr) c.2558C>A (p.Ser853Tyr) n.2527C>A c.2222C>A (p.Ser741Tyr) c.2633C>A (p.Ser878Tyr) c.*2275C>A (n.*2275C>A) n.2658C>A c.89C>A (p.Ser30Tyr) c.2555C>A (p.Ser852Tyr) c.655+2570C>A (n.655+2570C>A) c.1168-701C>A (n.1168-701C>A) c.2486C>A (p.Ser829Tyr) c.2549C>A (p.Ser850Tyr) c.2537C>A (p.Ser846Tyr) | ClinVar |
2 | g.144398630A>C | CA348707994 | ZEB2 | c.*2406T>G (n.*2406T>G) c.1780T>G (p.Ser594Ala) c.2557T>G (p.Ser853Ala) n.2526T>G c.2221T>G (p.Ser741Ala) c.2632T>G (p.Ser878Ala) c.*2274T>G (n.*2274T>G) n.2657T>G c.88T>G (p.Ser30Ala) c.2554T>G (p.Ser852Ala) c.655+2569T>G (n.655+2569T>G) c.1168-702T>G (n.1168-702T>G) c.2485T>G (p.Ser829Ala) c.2548T>G (p.Ser850Ala) c.2536T>G (p.Ser846Ala) | |
2 | g.144398630A>G | CA348707997 | ZEB2 | c.*2406T>C (n.*2406T>C) c.1780T>C (p.Ser594Pro) c.2557T>C (p.Ser853Pro) n.2526T>C c.2221T>C (p.Ser741Pro) c.2632T>C (p.Ser878Pro) c.*2274T>C (n.*2274T>C) n.2657T>C c.88T>C (p.Ser30Pro) c.2554T>C (p.Ser852Pro) c.655+2569T>C (n.655+2569T>C) c.1168-702T>C (n.1168-702T>C) c.2485T>C (p.Ser829Pro) c.2548T>C (p.Ser850Pro) c.2536T>C (p.Ser846Pro) | gnomAD v4 |
2 | g.144398630A>T | CA348707995 | ZEB2 | c.*2406T>A (n.*2406T>A) c.1780T>A (p.Ser594Thr) c.2557T>A (p.Ser853Thr) n.2526T>A c.2221T>A (p.Ser741Thr) c.2632T>A (p.Ser878Thr) c.*2274T>A (n.*2274T>A) n.2657T>A c.88T>A (p.Ser30Thr) c.2554T>A (p.Ser852Thr) c.655+2569T>A (n.655+2569T>A) c.1168-702T>A (n.1168-702T>A) c.2485T>A (p.Ser829Thr) c.2548T>A (p.Ser850Thr) c.2536T>A (p.Ser846Thr) | |
2 | g.144398631T>A | CA429445643 | ZEB2 | c.*2405A>T (n.*2405A>T) c.1779A>T (p.Ser593=) c.2556A>T (p.Ser852=) n.2525A>T c.2220A>T (p.Ser740=) c.2631A>T (p.Ser877=) c.*2273A>T (n.*2273A>T) n.2656A>T c.87A>T (p.Ser29=) c.2553A>T (p.Ser851=) c.655+2568A>T (n.655+2568A>T) c.1168-703A>T (n.1168-703A>T) c.2484A>T (p.Ser828=) c.2547A>T (p.Ser849=) c.2535A>T (p.Ser845=) | ClinVar gnomAD v4 |
2 | g.144398631T>C | CA429445644 | ZEB2 | c.*2405A>G (n.*2405A>G) c.1779A>G (p.Ser593=) c.2556A>G (p.Ser852=) n.2525A>G c.2220A>G (p.Ser740=) c.2631A>G (p.Ser877=) c.*2273A>G (n.*2273A>G) n.2656A>G c.87A>G (p.Ser29=) c.2553A>G (p.Ser851=) c.655+2568A>G (n.655+2568A>G) c.1168-703A>G (n.1168-703A>G) c.2484A>G (p.Ser828=) c.2547A>G (p.Ser849=) c.2535A>G (p.Ser845=) | |
2 | g.144398631T>G | CA429445645 | ZEB2 | c.*2405A>C (n.*2405A>C) c.1779A>C (p.Ser593=) c.2556A>C (p.Ser852=) n.2525A>C c.2220A>C (p.Ser740=) c.2631A>C (p.Ser877=) c.*2273A>C (n.*2273A>C) n.2656A>C c.87A>C (p.Ser29=) c.2553A>C (p.Ser851=) c.655+2568A>C (n.655+2568A>C) c.1168-703A>C (n.1168-703A>C) c.2484A>C (p.Ser828=) c.2547A>C (p.Ser849=) c.2535A>C (p.Ser845=) | |
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.144398632G>A | CA348707999 | ZEB2 | c.*2404C>T (n.*2404C>T) c.1778C>T (p.Ser593Leu) c.2555C>T (p.Ser852Leu) n.2524C>T c.2219C>T (p.Ser740Leu) c.2630C>T (p.Ser877Leu) c.*2272C>T (n.*2272C>T) n.2655C>T c.86C>T (p.Ser29Leu) c.2552C>T (p.Ser851Leu) c.655+2567C>T (n.655+2567C>T) c.1168-704C>T (n.1168-704C>T) c.2483C>T (p.Ser828Leu) c.2546C>T (p.Ser849Leu) c.2534C>T (p.Ser845Leu) | dbSNP gnomAD v4 |
2 | g.144398632G>C | CA253283 | ZEB2 | c.*2404C>G (n.*2404C>G) c.1778C>G (p.Ser593Ter) c.2555C>G (p.Ser852Ter) n.2524C>G c.2219C>G (p.Ser740Ter) c.2630C>G (p.Ser877Ter) c.*2272C>G (n.*2272C>G) n.2655C>G c.86C>G (p.Ser29Ter) c.2552C>G (p.Ser851Ter) c.655+2567C>G (n.655+2567C>G) c.1168-704C>G (n.1168-704C>G) c.2483C>G (p.Ser828Ter) c.2546C>G (p.Ser849Ter) c.2534C>G (p.Ser845Ter) | ClinVar dbSNP |
2 | g.144398632G= | CA1294884969 | ZEB2 | c.*2404C= (n.*2404C=) c.1778C= (p.Ser593=) c.2555C= (p.Ser852=) n.2524C= c.2219C= (p.Ser740=) c.2630C= (p.Ser877=) c.*2272C= (n.*2272C=) n.2655C= c.86C= (p.Ser29=) c.2552C= (p.Ser851=) c.655+2567C= (n.655+2567C=) c.1168-704C= (n.1168-704C=) c.2483C= (p.Ser828=) c.2546C= (p.Ser849=) c.2534C= (p.Ser845=) | |
2 | g.144398632G>T | CA348708002 | ZEB2 | c.*2404C>A (n.*2404C>A) c.1778C>A (p.Ser593Ter) c.2555C>A (p.Ser852Ter) n.2524C>A c.2219C>A (p.Ser740Ter) c.2630C>A (p.Ser877Ter) c.*2272C>A (n.*2272C>A) n.2655C>A c.86C>A (p.Ser29Ter) c.2552C>A (p.Ser851Ter) c.655+2567C>A (n.655+2567C>A) c.1168-704C>A (n.1168-704C>A) c.2483C>A (p.Ser828Ter) c.2546C>A (p.Ser849Ter) c.2534C>A (p.Ser845Ter) | |
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.144398633A>C | CA348708005 | ZEB2 | c.*2403T>G (n.*2403T>G) c.1777T>G (p.Ser593Ala) c.2554T>G (p.Ser852Ala) n.2523T>G c.2218T>G (p.Ser740Ala) c.2629T>G (p.Ser877Ala) c.*2271T>G (n.*2271T>G) n.2654T>G c.85T>G (p.Ser29Ala) c.2551T>G (p.Ser851Ala) c.655+2566T>G (n.655+2566T>G) c.1168-705T>G (n.1168-705T>G) c.2482T>G (p.Ser828Ala) c.2545T>G (p.Ser849Ala) c.2533T>G (p.Ser845Ala) | |
2 | g.144398633A>G | CA348708006 | ZEB2 | c.*2403T>C (n.*2403T>C) c.1777T>C (p.Ser593Pro) c.2554T>C (p.Ser852Pro) n.2523T>C c.2218T>C (p.Ser740Pro) c.2629T>C (p.Ser877Pro) c.*2271T>C (n.*2271T>C) n.2654T>C c.85T>C (p.Ser29Pro) c.2551T>C (p.Ser851Pro) c.655+2566T>C (n.655+2566T>C) c.1168-705T>C (n.1168-705T>C) c.2482T>C (p.Ser828Pro) c.2545T>C (p.Ser849Pro) c.2533T>C (p.Ser845Pro) | |
2 | g.144398633A>T | CA348708008 | ZEB2 | c.*2403T>A (n.*2403T>A) c.1777T>A (p.Ser593Thr) c.2554T>A (p.Ser852Thr) n.2523T>A c.2218T>A (p.Ser740Thr) c.2629T>A (p.Ser877Thr) c.*2271T>A (n.*2271T>A) n.2654T>A c.85T>A (p.Ser29Thr) c.2551T>A (p.Ser851Thr) c.655+2566T>A (n.655+2566T>A) c.1168-705T>A (n.1168-705T>A) c.2482T>A (p.Ser828Thr) c.2545T>A (p.Ser849Thr) c.2533T>A (p.Ser845Thr) | |
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 |