Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.144398508_144398515delinsAGGTTTGG | CA1294884924 | ZEB2 | c.*2521_*2528delinsCCAAACCT (n.*2521_*2528delinsCCAAACCT) c.1895_1902delinsCCAAACCT (p.Ala632=) c.2672_2679delinsCCAAACCT (p.Ala891=) n.2641_2648delinsCCAAACCT c.2336_2343delinsCCAAACCT (p.Ala779=) c.2747_2754delinsCCAAACCT (p.Ala916=) c.*2389_*2396delinsCCAAACCT (n.*2389_*2396delinsCCAAACCT) n.2772_2779delinsCCAAACCT c.203_210delinsCCAAACCT (p.Ala68=) c.2669_2676delinsCCAAACCT (p.Ala890=) c.655+2684_655+2691delinsCCAAACCT (n.655+2684_655+2691delinsCCAAACCT) c.1168-587_1168-580delinsCCAAACCT (n.1168-587_1168-580delinsCCAAACCT) c.2600_2607delinsCCAAACCT (p.Ala867=) c.2663_2670delinsCCAAACCT (p.Ala888=) c.2651_2658delinsCCAAACCT (p.Ala884=) | |
2 | g.144398509_144398515del | CA10583992 | ZEB2 | c.*2521_*2527del (n.*2521_*2527del) c.1895_1901del (p.Ala632ValfsTer?) c.2672_2678del (p.Ala891ValfsTer?) n.2641_2647del c.2336_2342del (p.Ala779ValfsTer?) c.2747_2753del (p.Ala916ValfsTer?) c.*2389_*2395del (n.*2389_*2395del) n.2772_2778del c.203_209del (p.Ala68ValfsTer?) c.2669_2675del (p.Ala890ValfsTer?) c.655+2684_655+2690del (n.655+2684_655+2690del) c.1168-587_1168-581del (n.1168-587_1168-581del) c.2600_2606del (p.Ala867ValfsTer?) c.2663_2669del (p.Ala888ValfsTer?) c.2651_2657del (p.Ala884ValfsTer?) | ClinVar dbSNP |
2 | g.144398511_144398515del | CA429445038 | ZEB2 | c.*2523_*2527del (n.*2523_*2527del) c.1897_1901del (p.Lys633PhefsTer?) c.2674_2678del (p.Lys892PhefsTer?) n.2643_2647del c.2338_2342del (p.Lys780PhefsTer?) c.2749_2753del (p.Lys917PhefsTer?) c.*2391_*2395del (n.*2391_*2395del) n.2774_2778del c.205_209del (p.Lys69PhefsTer?) c.2671_2675del (p.Lys891PhefsTer?) c.655+2686_655+2690del (n.655+2686_655+2690del) c.1168-585_1168-581del (n.1168-585_1168-581del) c.2602_2606del (p.Lys868PhefsTer?) c.2665_2669del (p.Lys889PhefsTer?) c.2653_2657del (p.Lys885PhefsTer?) | |
2 | g.144398510_144398515del | CA2586970077 | ZEB2 | c.*2522_*2527del (n.*2522_*2527del) c.1896_1901del (p.Lys633_Pro634del) c.2673_2678del (p.Lys892_Pro893del) n.2642_2647del c.2337_2342del (p.Lys780_Pro781del) c.2748_2753del (p.Lys917_Pro918del) c.*2390_*2395del (n.*2390_*2395del) n.2773_2778del c.204_209del (p.Lys69_Pro70del) c.2670_2675del (p.Lys891_Pro892del) c.655+2685_655+2690del (n.655+2685_655+2690del) c.1168-586_1168-581del (n.1168-586_1168-581del) c.2601_2606del (p.Lys868_Pro869del) c.2664_2669del (p.Lys889_Pro890del) c.2652_2657del (p.Lys885_Pro886del) | |
2 | g.144398510_144398517del | CA2586970079 | ZEB2 | c.*2519_*2526del (n.*2519_*2526del) c.1893_1900del (p.Ala632PhefsTer?) c.2670_2677del (p.Ala891PhefsTer?) n.2639_2646del c.2334_2341del (p.Ala779PhefsTer?) c.2745_2752del (p.Ala916PhefsTer?) c.*2387_*2394del (n.*2387_*2394del) n.2770_2777del c.201_208del (p.Ala68PhefsTer?) c.2667_2674del (p.Ala890PhefsTer?) c.655+2682_655+2689del (n.655+2682_655+2689del) c.1168-589_1168-582del (n.1168-589_1168-582del) c.2598_2605del (p.Ala867PhefsTer?) c.2661_2668del (p.Ala888PhefsTer?) c.2649_2656del (p.Ala884PhefsTer?) | |
2 | g.144398511T>A | CA348707452 | ZEB2 | c.*2525A>T (n.*2525A>T) c.1899A>T (p.Lys633Asn) c.2676A>T (p.Lys892Asn) n.2645A>T c.2340A>T (p.Lys780Asn) c.2751A>T (p.Lys917Asn) c.*2393A>T (n.*2393A>T) n.2776A>T c.207A>T (p.Lys69Asn) c.2673A>T (p.Lys891Asn) c.655+2688A>T (n.655+2688A>T) c.1168-583A>T (n.1168-583A>T) c.2604A>T (p.Lys868Asn) c.2667A>T (p.Lys889Asn) c.2655A>T (p.Lys885Asn) | |
2 | g.144398511T>C | CA429445039 | ZEB2 | c.*2525A>G (n.*2525A>G) c.1899A>G (p.Lys633=) c.2676A>G (p.Lys892=) n.2645A>G c.2340A>G (p.Lys780=) c.2751A>G (p.Lys917=) c.*2393A>G (n.*2393A>G) n.2776A>G c.207A>G (p.Lys69=) c.2673A>G (p.Lys891=) c.655+2688A>G (n.655+2688A>G) c.1168-583A>G (n.1168-583A>G) c.2604A>G (p.Lys868=) c.2667A>G (p.Lys889=) c.2655A>G (p.Lys885=) | |
2 | g.144398511T>G | CA348707454 | ZEB2 | c.*2525A>C (n.*2525A>C) c.1899A>C (p.Lys633Asn) c.2676A>C (p.Lys892Asn) n.2645A>C c.2340A>C (p.Lys780Asn) c.2751A>C (p.Lys917Asn) c.*2393A>C (n.*2393A>C) n.2776A>C c.207A>C (p.Lys69Asn) c.2673A>C (p.Lys891Asn) c.655+2688A>C (n.655+2688A>C) c.1168-583A>C (n.1168-583A>C) c.2604A>C (p.Lys868Asn) c.2667A>C (p.Lys889Asn) c.2655A>C (p.Lys885Asn) | |
2 | g.144398512_144398531dup | CA2586970080 | ZEB2 | c.*2506_*2525dup (n.*2506_*2525dup) c.1880_1899dup (p.Pro634Ter) c.2657_2676dup (p.Pro893Ter) n.2626_2645dup c.2321_2340dup (p.Pro781Ter) c.2732_2751dup (p.Pro918Ter) c.*2374_*2393dup (n.*2374_*2393dup) n.2757_2776dup c.188_207dup (p.Pro70Ter) c.2654_2673dup (p.Pro892Ter) c.655+2669_655+2688dup (n.655+2669_655+2688dup) c.1168-602_1168-583dup (n.1168-602_1168-583dup) c.2585_2604dup (p.Pro869Ter) c.2648_2667dup (p.Pro890Ter) c.2636_2655dup (p.Pro886Ter) | |
2 | g.144398512T>A | CA348707457 | ZEB2 | c.*2524A>T (n.*2524A>T) c.1898A>T (p.Lys633Ile) c.2675A>T (p.Lys892Ile) n.2644A>T c.2339A>T (p.Lys780Ile) c.2750A>T (p.Lys917Ile) c.*2392A>T (n.*2392A>T) n.2775A>T c.206A>T (p.Lys69Ile) c.2672A>T (p.Lys891Ile) c.655+2687A>T (n.655+2687A>T) c.1168-584A>T (n.1168-584A>T) c.2603A>T (p.Lys868Ile) c.2666A>T (p.Lys889Ile) c.2654A>T (p.Lys885Ile) | |
2 | g.144398512T>C | CA348707459 | ZEB2 | c.*2524A>G (n.*2524A>G) c.1898A>G (p.Lys633Arg) c.2675A>G (p.Lys892Arg) n.2644A>G c.2339A>G (p.Lys780Arg) c.2750A>G (p.Lys917Arg) c.*2392A>G (n.*2392A>G) n.2775A>G c.206A>G (p.Lys69Arg) c.2672A>G (p.Lys891Arg) c.655+2687A>G (n.655+2687A>G) c.1168-584A>G (n.1168-584A>G) c.2603A>G (p.Lys868Arg) c.2666A>G (p.Lys889Arg) c.2654A>G (p.Lys885Arg) | gnomAD v4 |
2 | g.144398512T>G | CA348707462 | ZEB2 | c.*2524A>C (n.*2524A>C) c.1898A>C (p.Lys633Thr) c.2675A>C (p.Lys892Thr) n.2644A>C c.2339A>C (p.Lys780Thr) c.2750A>C (p.Lys917Thr) c.*2392A>C (n.*2392A>C) n.2775A>C c.206A>C (p.Lys69Thr) c.2672A>C (p.Lys891Thr) c.655+2687A>C (n.655+2687A>C) c.1168-584A>C (n.1168-584A>C) c.2603A>C (p.Lys868Thr) c.2666A>C (p.Lys889Thr) c.2654A>C (p.Lys885Thr) | |
2 | g.144398513T>A | CA348707465 | ZEB2 | c.*2523A>T (n.*2523A>T) c.1897A>T (p.Lys633Ter) c.2674A>T (p.Lys892Ter) n.2643A>T c.2338A>T (p.Lys780Ter) c.2749A>T (p.Lys917Ter) c.*2391A>T (n.*2391A>T) n.2774A>T c.205A>T (p.Lys69Ter) c.2671A>T (p.Lys891Ter) c.655+2686A>T (n.655+2686A>T) c.1168-585A>T (n.1168-585A>T) c.2602A>T (p.Lys868Ter) c.2665A>T (p.Lys889Ter) c.2653A>T (p.Lys885Ter) | COSMIC |
2 | g.144398513T>C | CA348707466 | ZEB2 | c.*2523A>G (n.*2523A>G) c.1897A>G (p.Lys633Glu) c.2674A>G (p.Lys892Glu) n.2643A>G c.2338A>G (p.Lys780Glu) c.2749A>G (p.Lys917Glu) c.*2391A>G (n.*2391A>G) n.2774A>G c.205A>G (p.Lys69Glu) c.2671A>G (p.Lys891Glu) c.655+2686A>G (n.655+2686A>G) c.1168-585A>G (n.1168-585A>G) c.2602A>G (p.Lys868Glu) c.2665A>G (p.Lys889Glu) c.2653A>G (p.Lys885Glu) | |
2 | g.144398513T>G | CA348707468 | ZEB2 | c.*2523A>C (n.*2523A>C) c.1897A>C (p.Lys633Gln) c.2674A>C (p.Lys892Gln) n.2643A>C c.2338A>C (p.Lys780Gln) c.2749A>C (p.Lys917Gln) c.*2391A>C (n.*2391A>C) n.2774A>C c.205A>C (p.Lys69Gln) c.2671A>C (p.Lys891Gln) c.655+2686A>C (n.655+2686A>C) c.1168-585A>C (n.1168-585A>C) c.2602A>C (p.Lys868Gln) c.2665A>C (p.Lys889Gln) c.2653A>C (p.Lys885Gln) | |
2 | g.144398514G>A | CA429445046 | ZEB2 | c.*2522C>T (n.*2522C>T) c.1896C>T (p.Ala632=) c.2673C>T (p.Ala891=) n.2642C>T c.2337C>T (p.Ala779=) c.2748C>T (p.Ala916=) c.*2390C>T (n.*2390C>T) n.2773C>T c.204C>T (p.Ala68=) c.2670C>T (p.Ala890=) c.655+2685C>T (n.655+2685C>T) c.1168-586C>T (n.1168-586C>T) c.2601C>T (p.Ala867=) c.2664C>T (p.Ala888=) c.2652C>T (p.Ala884=) | |
2 | g.144398514G>C | CA429445044 | ZEB2 | c.*2522C>G (n.*2522C>G) c.1896C>G (p.Ala632=) c.2673C>G (p.Ala891=) n.2642C>G c.2337C>G (p.Ala779=) c.2748C>G (p.Ala916=) c.*2390C>G (n.*2390C>G) n.2773C>G c.204C>G (p.Ala68=) c.2670C>G (p.Ala890=) c.655+2685C>G (n.655+2685C>G) c.1168-586C>G (n.1168-586C>G) c.2601C>G (p.Ala867=) c.2664C>G (p.Ala888=) c.2652C>G (p.Ala884=) | |
2 | g.144398514G>T | CA429445045 | ZEB2 | c.*2522C>A (n.*2522C>A) c.1896C>A (p.Ala632=) c.2673C>A (p.Ala891=) n.2642C>A c.2337C>A (p.Ala779=) c.2748C>A (p.Ala916=) c.*2390C>A (n.*2390C>A) n.2773C>A c.204C>A (p.Ala68=) c.2670C>A (p.Ala890=) c.655+2685C>A (n.655+2685C>A) c.1168-586C>A (n.1168-586C>A) c.2601C>A (p.Ala867=) c.2664C>A (p.Ala888=) c.2652C>A (p.Ala884=) | |
2 | g.144398515G>A | CA57554852 | ZEB2 | c.*2521C>T (n.*2521C>T) c.1895C>T (p.Ala632Val) c.2672C>T (p.Ala891Val) n.2641C>T c.2336C>T (p.Ala779Val) c.2747C>T (p.Ala916Val) c.*2389C>T (n.*2389C>T) n.2772C>T c.203C>T (p.Ala68Val) c.2669C>T (p.Ala890Val) c.655+2684C>T (n.655+2684C>T) c.1168-587C>T (n.1168-587C>T) c.2600C>T (p.Ala867Val) c.2663C>T (p.Ala888Val) c.2651C>T (p.Ala884Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.144398515G>C | CA348707472 | ZEB2 | c.*2521C>G (n.*2521C>G) c.1895C>G (p.Ala632Gly) c.2672C>G (p.Ala891Gly) n.2641C>G c.2336C>G (p.Ala779Gly) c.2747C>G (p.Ala916Gly) c.*2389C>G (n.*2389C>G) n.2772C>G c.203C>G (p.Ala68Gly) c.2669C>G (p.Ala890Gly) c.655+2684C>G (n.655+2684C>G) c.1168-587C>G (n.1168-587C>G) c.2600C>G (p.Ala867Gly) c.2663C>G (p.Ala888Gly) c.2651C>G (p.Ala884Gly) | ClinVar dbSNP gnomAD v4 |
2 | g.144398515G= | CA1294884926 | ZEB2 | c.*2521C= (n.*2521C=) c.1895C= (p.Ala632=) c.2672C= (p.Ala891=) n.2641C= c.2336C= (p.Ala779=) c.2747C= (p.Ala916=) c.*2389C= (n.*2389C=) n.2772C= c.203C= (p.Ala68=) c.2669C= (p.Ala890=) c.655+2684C= (n.655+2684C=) c.1168-587C= (n.1168-587C=) c.2600C= (p.Ala867=) c.2663C= (p.Ala888=) c.2651C= (p.Ala884=) | |
2 | g.144398515G>T | CA348707474 | ZEB2 | c.*2521C>A (n.*2521C>A) c.1895C>A (p.Ala632Asp) c.2672C>A (p.Ala891Asp) n.2641C>A c.2336C>A (p.Ala779Asp) c.2747C>A (p.Ala916Asp) c.*2389C>A (n.*2389C>A) n.2772C>A c.203C>A (p.Ala68Asp) c.2669C>A (p.Ala890Asp) c.655+2684C>A (n.655+2684C>A) c.1168-587C>A (n.1168-587C>A) c.2600C>A (p.Ala867Asp) c.2663C>A (p.Ala888Asp) c.2651C>A (p.Ala884Asp) | |
2 | g.144398516C>A | CA348707479 | ZEB2 | c.*2520G>T (n.*2520G>T) c.1894G>T (p.Ala632Ser) c.2671G>T (p.Ala891Ser) n.2640G>T c.2335G>T (p.Ala779Ser) c.2746G>T (p.Ala916Ser) c.*2388G>T (n.*2388G>T) n.2771G>T c.202G>T (p.Ala68Ser) c.2668G>T (p.Ala890Ser) c.655+2683G>T (n.655+2683G>T) c.1168-588G>T (n.1168-588G>T) c.2599G>T (p.Ala867Ser) c.2662G>T (p.Ala888Ser) c.2650G>T (p.Ala884Ser) | |
2 | g.144398516C>G | CA348707480 | ZEB2 | c.*2520G>C (n.*2520G>C) c.1894G>C (p.Ala632Pro) c.2671G>C (p.Ala891Pro) n.2640G>C c.2335G>C (p.Ala779Pro) c.2746G>C (p.Ala916Pro) c.*2388G>C (n.*2388G>C) n.2771G>C c.202G>C (p.Ala68Pro) c.2668G>C (p.Ala890Pro) c.655+2683G>C (n.655+2683G>C) c.1168-588G>C (n.1168-588G>C) c.2599G>C (p.Ala867Pro) c.2662G>C (p.Ala888Pro) c.2650G>C (p.Ala884Pro) | |
2 | g.144398516C>T | CA348707483 | ZEB2 | c.*2520G>A (n.*2520G>A) c.1894G>A (p.Ala632Thr) c.2671G>A (p.Ala891Thr) n.2640G>A c.2335G>A (p.Ala779Thr) c.2746G>A (p.Ala916Thr) c.*2388G>A (n.*2388G>A) n.2771G>A c.202G>A (p.Ala68Thr) c.2668G>A (p.Ala890Thr) c.655+2683G>A (n.655+2683G>A) c.1168-588G>A (n.1168-588G>A) c.2599G>A (p.Ala867Thr) c.2662G>A (p.Ala888Thr) c.2650G>A (p.Ala884Thr) | |
2 | g.144398517A>C | CA348707486 | ZEB2 | c.*2519T>G (n.*2519T>G) c.1893T>G (p.Ser631Arg) c.2670T>G (p.Ser890Arg) n.2639T>G c.2334T>G (p.Ser778Arg) c.2745T>G (p.Ser915Arg) c.*2387T>G (n.*2387T>G) n.2770T>G c.201T>G (p.Ser67Arg) c.2667T>G (p.Ser889Arg) c.655+2682T>G (n.655+2682T>G) c.1168-589T>G (n.1168-589T>G) c.2598T>G (p.Ser866Arg) c.2661T>G (p.Ser887Arg) c.2649T>G (p.Ser883Arg) | |
2 | g.144398517A>G | CA429445050 | ZEB2 | c.*2519T>C (n.*2519T>C) c.1893T>C (p.Ser631=) c.2670T>C (p.Ser890=) n.2639T>C c.2334T>C (p.Ser778=) c.2745T>C (p.Ser915=) c.*2387T>C (n.*2387T>C) n.2770T>C c.201T>C (p.Ser67=) c.2667T>C (p.Ser889=) c.655+2682T>C (n.655+2682T>C) c.1168-589T>C (n.1168-589T>C) c.2598T>C (p.Ser866=) c.2661T>C (p.Ser887=) c.2649T>C (p.Ser883=) | |
2 | g.144398517A>T | CA348707488 | ZEB2 | c.*2519T>A (n.*2519T>A) c.1893T>A (p.Ser631Arg) c.2670T>A (p.Ser890Arg) n.2639T>A c.2334T>A (p.Ser778Arg) c.2745T>A (p.Ser915Arg) c.*2387T>A (n.*2387T>A) n.2770T>A c.201T>A (p.Ser67Arg) c.2667T>A (p.Ser889Arg) c.655+2682T>A (n.655+2682T>A) c.1168-589T>A (n.1168-589T>A) c.2598T>A (p.Ser866Arg) c.2661T>A (p.Ser887Arg) c.2649T>A (p.Ser883Arg) | |
2 | g.144398518C>A | CA348707491 | ZEB2 | c.*2518G>T (n.*2518G>T) c.1892G>T (p.Ser631Ile) c.2669G>T (p.Ser890Ile) n.2638G>T c.2333G>T (p.Ser778Ile) c.2744G>T (p.Ser915Ile) c.*2386G>T (n.*2386G>T) n.2769G>T c.200G>T (p.Ser67Ile) c.2666G>T (p.Ser889Ile) c.655+2681G>T (n.655+2681G>T) c.1168-590G>T (n.1168-590G>T) c.2597G>T (p.Ser866Ile) c.2660G>T (p.Ser887Ile) c.2648G>T (p.Ser883Ile) | |
2 | g.144398518C>G | CA348707493 | ZEB2 | c.*2518G>C (n.*2518G>C) c.1892G>C (p.Ser631Thr) c.2669G>C (p.Ser890Thr) n.2638G>C c.2333G>C (p.Ser778Thr) c.2744G>C (p.Ser915Thr) c.*2386G>C (n.*2386G>C) n.2769G>C c.200G>C (p.Ser67Thr) c.2666G>C (p.Ser889Thr) c.655+2681G>C (n.655+2681G>C) c.1168-590G>C (n.1168-590G>C) c.2597G>C (p.Ser866Thr) c.2660G>C (p.Ser887Thr) c.2648G>C (p.Ser883Thr) | |
2 | g.144398518C>T | CA348707494 | ZEB2 | c.*2518G>A (n.*2518G>A) c.1892G>A (p.Ser631Asn) c.2669G>A (p.Ser890Asn) n.2638G>A c.2333G>A (p.Ser778Asn) c.2744G>A (p.Ser915Asn) c.*2386G>A (n.*2386G>A) n.2769G>A c.200G>A (p.Ser67Asn) c.2666G>A (p.Ser889Asn) c.655+2681G>A (n.655+2681G>A) c.1168-590G>A (n.1168-590G>A) c.2597G>A (p.Ser866Asn) c.2660G>A (p.Ser887Asn) c.2648G>A (p.Ser883Asn) | |
2 | g.144398519T>A | CA348707497 | ZEB2 | c.*2517A>T (n.*2517A>T) c.1891A>T (p.Ser631Cys) c.2668A>T (p.Ser890Cys) n.2637A>T c.2332A>T (p.Ser778Cys) c.2743A>T (p.Ser915Cys) c.*2385A>T (n.*2385A>T) n.2768A>T c.199A>T (p.Ser67Cys) c.2665A>T (p.Ser889Cys) c.655+2680A>T (n.655+2680A>T) c.1168-591A>T (n.1168-591A>T) c.2596A>T (p.Ser866Cys) c.2659A>T (p.Ser887Cys) c.2647A>T (p.Ser883Cys) | |
2 | g.144398519T>C | CA348707499 | ZEB2 | c.*2517A>G (n.*2517A>G) c.1891A>G (p.Ser631Gly) c.2668A>G (p.Ser890Gly) n.2637A>G c.2332A>G (p.Ser778Gly) c.2743A>G (p.Ser915Gly) c.*2385A>G (n.*2385A>G) n.2768A>G c.199A>G (p.Ser67Gly) c.2665A>G (p.Ser889Gly) c.655+2680A>G (n.655+2680A>G) c.1168-591A>G (n.1168-591A>G) c.2596A>G (p.Ser866Gly) c.2659A>G (p.Ser887Gly) c.2647A>G (p.Ser883Gly) | |
2 | g.144398519T>G | CA348707502 | ZEB2 | c.*2517A>C (n.*2517A>C) c.1891A>C (p.Ser631Arg) c.2668A>C (p.Ser890Arg) n.2637A>C c.2332A>C (p.Ser778Arg) c.2743A>C (p.Ser915Arg) c.*2385A>C (n.*2385A>C) n.2768A>C c.199A>C (p.Ser67Arg) c.2665A>C (p.Ser889Arg) c.655+2680A>C (n.655+2680A>C) c.1168-591A>C (n.1168-591A>C) c.2596A>C (p.Ser866Arg) c.2659A>C (p.Ser887Arg) c.2647A>C (p.Ser883Arg) | |
2 | g.144398520A>C | CA348707505 | ZEB2 | c.*2516T>G (n.*2516T>G) c.1890T>G (p.Phe630Leu) c.2667T>G (p.Phe889Leu) n.2636T>G c.2331T>G (p.Phe777Leu) c.2742T>G (p.Phe914Leu) c.*2384T>G (n.*2384T>G) n.2767T>G c.198T>G (p.Phe66Leu) c.2664T>G (p.Phe888Leu) c.655+2679T>G (n.655+2679T>G) c.1168-592T>G (n.1168-592T>G) c.2595T>G (p.Phe865Leu) c.2658T>G (p.Phe886Leu) c.2646T>G (p.Phe882Leu) | |
2 | g.144398520A>G | CA429445056 | ZEB2 | c.*2516T>C (n.*2516T>C) c.1890T>C (p.Phe630=) c.2667T>C (p.Phe889=) n.2636T>C c.2331T>C (p.Phe777=) c.2742T>C (p.Phe914=) c.*2384T>C (n.*2384T>C) n.2767T>C c.198T>C (p.Phe66=) c.2664T>C (p.Phe888=) c.655+2679T>C (n.655+2679T>C) c.1168-592T>C (n.1168-592T>C) c.2595T>C (p.Phe865=) c.2658T>C (p.Phe886=) c.2646T>C (p.Phe882=) | |
2 | g.144398520A>T | CA348707507 | ZEB2 | c.*2516T>A (n.*2516T>A) c.1890T>A (p.Phe630Leu) c.2667T>A (p.Phe889Leu) n.2636T>A c.2331T>A (p.Phe777Leu) c.2742T>A (p.Phe914Leu) c.*2384T>A (n.*2384T>A) n.2767T>A c.198T>A (p.Phe66Leu) c.2664T>A (p.Phe888Leu) c.655+2679T>A (n.655+2679T>A) c.1168-592T>A (n.1168-592T>A) c.2595T>A (p.Phe865Leu) c.2658T>A (p.Phe886Leu) c.2646T>A (p.Phe882Leu) | |
2 | g.144398521A>C | CA348707510 | ZEB2 | c.*2515T>G (n.*2515T>G) c.1889T>G (p.Phe630Cys) c.2666T>G (p.Phe889Cys) n.2635T>G c.2330T>G (p.Phe777Cys) c.2741T>G (p.Phe914Cys) c.*2383T>G (n.*2383T>G) n.2766T>G c.197T>G (p.Phe66Cys) c.2663T>G (p.Phe888Cys) c.655+2678T>G (n.655+2678T>G) c.1168-593T>G (n.1168-593T>G) c.2594T>G (p.Phe865Cys) c.2657T>G (p.Phe886Cys) c.2645T>G (p.Phe882Cys) | |
2 | g.144398521A>G | CA348707512 | ZEB2 | c.*2515T>C (n.*2515T>C) c.1889T>C (p.Phe630Ser) c.2666T>C (p.Phe889Ser) n.2635T>C c.2330T>C (p.Phe777Ser) c.2741T>C (p.Phe914Ser) c.*2383T>C (n.*2383T>C) n.2766T>C c.197T>C (p.Phe66Ser) c.2663T>C (p.Phe888Ser) c.655+2678T>C (n.655+2678T>C) c.1168-593T>C (n.1168-593T>C) c.2594T>C (p.Phe865Ser) c.2657T>C (p.Phe886Ser) c.2645T>C (p.Phe882Ser) | |
2 | g.144398521A>T | CA348707514 | ZEB2 | c.*2515T>A (n.*2515T>A) c.1889T>A (p.Phe630Tyr) c.2666T>A (p.Phe889Tyr) n.2635T>A c.2330T>A (p.Phe777Tyr) c.2741T>A (p.Phe914Tyr) c.*2383T>A (n.*2383T>A) n.2766T>A c.197T>A (p.Phe66Tyr) c.2663T>A (p.Phe888Tyr) c.655+2678T>A (n.655+2678T>A) c.1168-593T>A (n.1168-593T>A) c.2594T>A (p.Phe865Tyr) c.2657T>A (p.Phe886Tyr) c.2645T>A (p.Phe882Tyr) | |
2 | g.144398522A= | CA1294884927 | ZEB2 | c.*2514T= (n.*2514T=) c.1888T= (p.Phe630=) c.2665T= (p.Phe889=) n.2634T= c.2329T= (p.Phe777=) c.2740T= (p.Phe914=) c.*2382T= (n.*2382T=) n.2765T= c.196T= (p.Phe66=) c.2662T= (p.Phe888=) c.655+2677T= (n.655+2677T=) c.1168-594T= (n.1168-594T=) c.2593T= (p.Phe865=) c.2656T= (p.Phe886=) c.2644T= (p.Phe882=) | |
2 | g.144398522A>C | CA348707517 | ZEB2 | c.*2514T>G (n.*2514T>G) c.1888T>G (p.Phe630Val) c.2665T>G (p.Phe889Val) n.2634T>G c.2329T>G (p.Phe777Val) c.2740T>G (p.Phe914Val) c.*2382T>G (n.*2382T>G) n.2765T>G c.196T>G (p.Phe66Val) c.2662T>G (p.Phe888Val) c.655+2677T>G (n.655+2677T>G) c.1168-594T>G (n.1168-594T>G) c.2593T>G (p.Phe865Val) c.2656T>G (p.Phe886Val) c.2644T>G (p.Phe882Val) | |
2 | g.144398522A>G | CA57554856 | ZEB2 | c.*2514T>C (n.*2514T>C) c.1888T>C (p.Phe630Leu) c.2665T>C (p.Phe889Leu) n.2634T>C c.2329T>C (p.Phe777Leu) c.2740T>C (p.Phe914Leu) c.*2382T>C (n.*2382T>C) n.2765T>C c.196T>C (p.Phe66Leu) c.2662T>C (p.Phe888Leu) c.655+2677T>C (n.655+2677T>C) c.1168-594T>C (n.1168-594T>C) c.2593T>C (p.Phe865Leu) c.2656T>C (p.Phe886Leu) c.2644T>C (p.Phe882Leu) | ClinVar dbSNP gnomAD v4 |
2 | g.144398522A>T | CA348707520 | ZEB2 | c.*2514T>A (n.*2514T>A) c.1888T>A (p.Phe630Ile) c.2665T>A (p.Phe889Ile) n.2634T>A c.2329T>A (p.Phe777Ile) c.2740T>A (p.Phe914Ile) c.*2382T>A (n.*2382T>A) n.2765T>A c.196T>A (p.Phe66Ile) c.2662T>A (p.Phe888Ile) c.655+2677T>A (n.655+2677T>A) c.1168-594T>A (n.1168-594T>A) c.2593T>A (p.Phe865Ile) c.2656T>A (p.Phe886Ile) c.2644T>A (p.Phe882Ile) | |
2 | g.144398523T>A | CA429445060 | ZEB2 | c.*2513A>T (n.*2513A>T) c.1887A>T (p.Pro629=) c.2664A>T (p.Pro888=) n.2633A>T c.2328A>T (p.Pro776=) c.2739A>T (p.Pro913=) c.*2381A>T (n.*2381A>T) n.2764A>T c.195A>T (p.Pro65=) c.2661A>T (p.Pro887=) c.655+2676A>T (n.655+2676A>T) c.1168-595A>T (n.1168-595A>T) c.2592A>T (p.Pro864=) c.2655A>T (p.Pro885=) c.2643A>T (p.Pro881=) | |
2 | g.144398523T>C | CA429445063 | ZEB2 | c.*2513A>G (n.*2513A>G) c.1887A>G (p.Pro629=) c.2664A>G (p.Pro888=) n.2633A>G c.2328A>G (p.Pro776=) c.2739A>G (p.Pro913=) c.*2381A>G (n.*2381A>G) n.2764A>G c.195A>G (p.Pro65=) c.2661A>G (p.Pro887=) c.655+2676A>G (n.655+2676A>G) c.1168-595A>G (n.1168-595A>G) c.2592A>G (p.Pro864=) c.2655A>G (p.Pro885=) c.2643A>G (p.Pro881=) | gnomAD v4 |
2 | g.144398523T>G | CA429445062 | ZEB2 | c.*2513A>C (n.*2513A>C) c.1887A>C (p.Pro629=) c.2664A>C (p.Pro888=) n.2633A>C c.2328A>C (p.Pro776=) c.2739A>C (p.Pro913=) c.*2381A>C (n.*2381A>C) n.2764A>C c.195A>C (p.Pro65=) c.2661A>C (p.Pro887=) c.655+2676A>C (n.655+2676A>C) c.1168-595A>C (n.1168-595A>C) c.2592A>C (p.Pro864=) c.2655A>C (p.Pro885=) c.2643A>C (p.Pro881=) | |
2 | g.144398524G>A | CA348707524 | ZEB2 | c.*2512C>T (n.*2512C>T) c.1886C>T (p.Pro629Leu) c.2663C>T (p.Pro888Leu) n.2632C>T c.2327C>T (p.Pro776Leu) c.2738C>T (p.Pro913Leu) c.*2380C>T (n.*2380C>T) n.2763C>T c.194C>T (p.Pro65Leu) c.2660C>T (p.Pro887Leu) c.655+2675C>T (n.655+2675C>T) c.1168-596C>T (n.1168-596C>T) c.2591C>T (p.Pro864Leu) c.2654C>T (p.Pro885Leu) c.2642C>T (p.Pro881Leu) | |
2 | g.144398524G>C | CA348707527 | ZEB2 | c.*2512C>G (n.*2512C>G) c.1886C>G (p.Pro629Arg) c.2663C>G (p.Pro888Arg) n.2632C>G c.2327C>G (p.Pro776Arg) c.2738C>G (p.Pro913Arg) c.*2380C>G (n.*2380C>G) n.2763C>G c.194C>G (p.Pro65Arg) c.2660C>G (p.Pro887Arg) c.655+2675C>G (n.655+2675C>G) c.1168-596C>G (n.1168-596C>G) c.2591C>G (p.Pro864Arg) c.2654C>G (p.Pro885Arg) c.2642C>G (p.Pro881Arg) | |
2 | g.144398524G>T | CA348707522 | ZEB2 | c.*2512C>A (n.*2512C>A) c.1886C>A (p.Pro629Gln) c.2663C>A (p.Pro888Gln) n.2632C>A c.2327C>A (p.Pro776Gln) c.2738C>A (p.Pro913Gln) c.*2380C>A (n.*2380C>A) n.2763C>A c.194C>A (p.Pro65Gln) c.2660C>A (p.Pro887Gln) c.655+2675C>A (n.655+2675C>A) c.1168-596C>A (n.1168-596C>A) c.2591C>A (p.Pro864Gln) c.2654C>A (p.Pro885Gln) c.2642C>A (p.Pro881Gln) | |
2 | g.144398526del | CA2586970081 | ZEB2 | c.*2512del (n.*2512del) c.1886del (p.Pro629HisfsTer?) c.2663del (p.Pro888HisfsTer?) n.2632del c.2327del (p.Pro776HisfsTer?) c.2738del (p.Pro913HisfsTer?) c.*2380del (n.*2380del) n.2763del c.194del (p.Pro65HisfsTer?) c.2660del (p.Pro887HisfsTer?) c.655+2675del (n.655+2675del) c.1168-596del (n.1168-596del) c.2591del (p.Pro864HisfsTer?) c.2654del (p.Pro885HisfsTer?) c.2642del (p.Pro881HisfsTer?) | |
2 | g.144398525G>A | CA348707530 | ZEB2 | c.*2511C>T (n.*2511C>T) c.1885C>T (p.Pro629Ser) c.2662C>T (p.Pro888Ser) n.2631C>T c.2326C>T (p.Pro776Ser) c.2737C>T (p.Pro913Ser) c.*2379C>T (n.*2379C>T) n.2762C>T c.193C>T (p.Pro65Ser) c.2659C>T (p.Pro887Ser) c.655+2674C>T (n.655+2674C>T) c.1168-597C>T (n.1168-597C>T) c.2590C>T (p.Pro864Ser) c.2653C>T (p.Pro885Ser) c.2641C>T (p.Pro881Ser) | gnomAD v4 |
2 | g.144398525G>C | CA348707534 | ZEB2 | c.*2511C>G (n.*2511C>G) c.1885C>G (p.Pro629Ala) c.2662C>G (p.Pro888Ala) n.2631C>G c.2326C>G (p.Pro776Ala) c.2737C>G (p.Pro913Ala) c.*2379C>G (n.*2379C>G) n.2762C>G c.193C>G (p.Pro65Ala) c.2659C>G (p.Pro887Ala) c.655+2674C>G (n.655+2674C>G) c.1168-597C>G (n.1168-597C>G) c.2590C>G (p.Pro864Ala) c.2653C>G (p.Pro885Ala) c.2641C>G (p.Pro881Ala) | |
2 | g.144398525G>T | CA348707531 | ZEB2 | c.*2511C>A (n.*2511C>A) c.1885C>A (p.Pro629Thr) c.2662C>A (p.Pro888Thr) n.2631C>A c.2326C>A (p.Pro776Thr) c.2737C>A (p.Pro913Thr) c.*2379C>A (n.*2379C>A) n.2762C>A c.193C>A (p.Pro65Thr) c.2659C>A (p.Pro887Thr) c.655+2674C>A (n.655+2674C>A) c.1168-597C>A (n.1168-597C>A) c.2590C>A (p.Pro864Thr) c.2653C>A (p.Pro885Thr) c.2641C>A (p.Pro881Thr) | |
2 | g.144398526G>A | CA429445068 | ZEB2 | c.*2510C>T (n.*2510C>T) c.1884C>T (p.Asn628=) c.2661C>T (p.Asn887=) n.2630C>T c.2325C>T (p.Asn775=) c.2736C>T (p.Asn912=) c.*2378C>T (n.*2378C>T) n.2761C>T c.192C>T (p.Asn64=) c.2658C>T (p.Asn886=) c.655+2673C>T (n.655+2673C>T) c.1168-598C>T (n.1168-598C>T) c.2589C>T (p.Asn863=) c.2652C>T (p.Asn884=) c.2640C>T (p.Asn880=) | gnomAD v4 |
2 | g.144398526G>C | CA348707538 | ZEB2 | c.*2510C>G (n.*2510C>G) c.1884C>G (p.Asn628Lys) c.2661C>G (p.Asn887Lys) n.2630C>G c.2325C>G (p.Asn775Lys) c.2736C>G (p.Asn912Lys) c.*2378C>G (n.*2378C>G) n.2761C>G c.192C>G (p.Asn64Lys) c.2658C>G (p.Asn886Lys) c.655+2673C>G (n.655+2673C>G) c.1168-598C>G (n.1168-598C>G) c.2589C>G (p.Asn863Lys) c.2652C>G (p.Asn884Lys) c.2640C>G (p.Asn880Lys) | |
2 | g.144398526G>T | CA348707539 | ZEB2 | c.*2510C>A (n.*2510C>A) c.1884C>A (p.Asn628Lys) c.2661C>A (p.Asn887Lys) n.2630C>A c.2325C>A (p.Asn775Lys) c.2736C>A (p.Asn912Lys) c.*2378C>A (n.*2378C>A) n.2761C>A c.192C>A (p.Asn64Lys) c.2658C>A (p.Asn886Lys) c.655+2673C>A (n.655+2673C>A) c.1168-598C>A (n.1168-598C>A) c.2589C>A (p.Asn863Lys) c.2652C>A (p.Asn884Lys) c.2640C>A (p.Asn880Lys) | |
2 | g.144398527T>A | CA348707542 | ZEB2 | c.*2509A>T (n.*2509A>T) c.1883A>T (p.Asn628Ile) c.2660A>T (p.Asn887Ile) n.2629A>T c.2324A>T (p.Asn775Ile) c.2735A>T (p.Asn912Ile) c.*2377A>T (n.*2377A>T) n.2760A>T c.191A>T (p.Asn64Ile) c.2657A>T (p.Asn886Ile) c.655+2672A>T (n.655+2672A>T) c.1168-599A>T (n.1168-599A>T) c.2588A>T (p.Asn863Ile) c.2651A>T (p.Asn884Ile) c.2639A>T (p.Asn880Ile) | |
2 | g.144398527T>C | CA348707545 | ZEB2 | c.*2509A>G (n.*2509A>G) c.1883A>G (p.Asn628Ser) c.2660A>G (p.Asn887Ser) n.2629A>G c.2324A>G (p.Asn775Ser) c.2735A>G (p.Asn912Ser) c.*2377A>G (n.*2377A>G) n.2760A>G c.191A>G (p.Asn64Ser) c.2657A>G (p.Asn886Ser) c.655+2672A>G (n.655+2672A>G) c.1168-599A>G (n.1168-599A>G) c.2588A>G (p.Asn863Ser) c.2651A>G (p.Asn884Ser) c.2639A>G (p.Asn880Ser) | |
2 | g.144398527T>G | CA348707547 | ZEB2 | c.*2509A>C (n.*2509A>C) c.1883A>C (p.Asn628Thr) c.2660A>C (p.Asn887Thr) n.2629A>C c.2324A>C (p.Asn775Thr) c.2735A>C (p.Asn912Thr) c.*2377A>C (n.*2377A>C) n.2760A>C c.191A>C (p.Asn64Thr) c.2657A>C (p.Asn886Thr) c.655+2672A>C (n.655+2672A>C) c.1168-599A>C (n.1168-599A>C) c.2588A>C (p.Asn863Thr) c.2651A>C (p.Asn884Thr) c.2639A>C (p.Asn880Thr) | |
2 | g.144398528T>A | CA348707554 | ZEB2 | c.*2508A>T (n.*2508A>T) c.1882A>T (p.Asn628Tyr) c.2659A>T (p.Asn887Tyr) n.2628A>T c.2323A>T (p.Asn775Tyr) c.2734A>T (p.Asn912Tyr) c.*2376A>T (n.*2376A>T) n.2759A>T c.190A>T (p.Asn64Tyr) c.2656A>T (p.Asn886Tyr) c.655+2671A>T (n.655+2671A>T) c.1168-600A>T (n.1168-600A>T) c.2587A>T (p.Asn863Tyr) c.2650A>T (p.Asn884Tyr) c.2638A>T (p.Asn880Tyr) | |
2 | g.144398528T>C | CA348707552 | ZEB2 | c.*2508A>G (n.*2508A>G) c.1882A>G (p.Asn628Asp) c.2659A>G (p.Asn887Asp) n.2628A>G c.2323A>G (p.Asn775Asp) c.2734A>G (p.Asn912Asp) c.*2376A>G (n.*2376A>G) n.2759A>G c.190A>G (p.Asn64Asp) c.2656A>G (p.Asn886Asp) c.655+2671A>G (n.655+2671A>G) c.1168-600A>G (n.1168-600A>G) c.2587A>G (p.Asn863Asp) c.2650A>G (p.Asn884Asp) c.2638A>G (p.Asn880Asp) | |
2 | g.144398528T>G | CA348707550 | ZEB2 | c.*2508A>C (n.*2508A>C) c.1882A>C (p.Asn628His) c.2659A>C (p.Asn887His) n.2628A>C c.2323A>C (p.Asn775His) c.2734A>C (p.Asn912His) c.*2376A>C (n.*2376A>C) n.2759A>C c.190A>C (p.Asn64His) c.2656A>C (p.Asn886His) c.655+2671A>C (n.655+2671A>C) c.1168-600A>C (n.1168-600A>C) c.2587A>C (p.Asn863His) c.2650A>C (p.Asn884His) c.2638A>C (p.Asn880His) | |
2 | g.144398529C>A | CA348707557 | ZEB2 | c.*2507G>T (n.*2507G>T) c.1881G>T (p.Met627Ile) c.2658G>T (p.Met886Ile) n.2627G>T c.2322G>T (p.Met774Ile) c.2733G>T (p.Met911Ile) c.*2375G>T (n.*2375G>T) n.2758G>T c.189G>T (p.Met63Ile) c.2655G>T (p.Met885Ile) c.655+2670G>T (n.655+2670G>T) c.1168-601G>T (n.1168-601G>T) c.2586G>T (p.Met862Ile) c.2649G>T (p.Met883Ile) c.2637G>T (p.Met879Ile) | gnomAD v4 |
2 | g.144398529C>G | CA348707559 | ZEB2 | c.*2507G>C (n.*2507G>C) c.1881G>C (p.Met627Ile) c.2658G>C (p.Met886Ile) n.2627G>C c.2322G>C (p.Met774Ile) c.2733G>C (p.Met911Ile) c.*2375G>C (n.*2375G>C) n.2758G>C c.189G>C (p.Met63Ile) c.2655G>C (p.Met885Ile) c.655+2670G>C (n.655+2670G>C) c.1168-601G>C (n.1168-601G>C) c.2586G>C (p.Met862Ile) c.2649G>C (p.Met883Ile) c.2637G>C (p.Met879Ile) | |
2 | g.144398529C>T | CA348707561 | ZEB2 | c.*2507G>A (n.*2507G>A) c.1881G>A (p.Met627Ile) c.2658G>A (p.Met886Ile) n.2627G>A c.2322G>A (p.Met774Ile) c.2733G>A (p.Met911Ile) c.*2375G>A (n.*2375G>A) n.2758G>A c.189G>A (p.Met63Ile) c.2655G>A (p.Met885Ile) c.655+2670G>A (n.655+2670G>A) c.1168-601G>A (n.1168-601G>A) c.2586G>A (p.Met862Ile) c.2649G>A (p.Met883Ile) c.2637G>A (p.Met879Ile) | gnomAD v4 |
2 | g.144398530A= | CA1294884928 | ZEB2 | c.*2506T= (n.*2506T=) c.1880T= (p.Met627=) c.2657T= (p.Met886=) n.2626T= c.2321T= (p.Met774=) c.2732T= (p.Met911=) c.*2374T= (n.*2374T=) n.2757T= c.188T= (p.Met63=) c.2654T= (p.Met885=) c.655+2669T= (n.655+2669T=) c.1168-602T= (n.1168-602T=) c.2585T= (p.Met862=) c.2648T= (p.Met883=) c.2636T= (p.Met879=) | |
2 | g.144398530A>C | CA348707563 | ZEB2 | c.*2506T>G (n.*2506T>G) c.1880T>G (p.Met627Arg) c.2657T>G (p.Met886Arg) n.2626T>G c.2321T>G (p.Met774Arg) c.2732T>G (p.Met911Arg) c.*2374T>G (n.*2374T>G) n.2757T>G c.188T>G (p.Met63Arg) c.2654T>G (p.Met885Arg) c.655+2669T>G (n.655+2669T>G) c.1168-602T>G (n.1168-602T>G) c.2585T>G (p.Met862Arg) c.2648T>G (p.Met883Arg) c.2636T>G (p.Met879Arg) | |
2 | g.144398530A>G | CA57554861 | ZEB2 | c.*2506T>C (n.*2506T>C) c.1880T>C (p.Met627Thr) c.2657T>C (p.Met886Thr) n.2626T>C c.2321T>C (p.Met774Thr) c.2732T>C (p.Met911Thr) c.*2374T>C (n.*2374T>C) n.2757T>C c.188T>C (p.Met63Thr) c.2654T>C (p.Met885Thr) c.655+2669T>C (n.655+2669T>C) c.1168-602T>C (n.1168-602T>C) c.2585T>C (p.Met862Thr) c.2648T>C (p.Met883Thr) c.2636T>C (p.Met879Thr) | dbSNP gnomAD v4 |
2 | g.144398530A>T | CA348707567 | ZEB2 | c.*2506T>A (n.*2506T>A) c.1880T>A (p.Met627Lys) c.2657T>A (p.Met886Lys) n.2626T>A c.2321T>A (p.Met774Lys) c.2732T>A (p.Met911Lys) c.*2374T>A (n.*2374T>A) n.2757T>A c.188T>A (p.Met63Lys) c.2654T>A (p.Met885Lys) c.655+2669T>A (n.655+2669T>A) c.1168-602T>A (n.1168-602T>A) c.2585T>A (p.Met862Lys) c.2648T>A (p.Met883Lys) c.2636T>A (p.Met879Lys) | COSMIC |
2 | g.144398531T>A | CA348707575 | ZEB2 | c.*2505A>T (n.*2505A>T) c.1879A>T (p.Met627Leu) c.2656A>T (p.Met886Leu) n.2625A>T c.2320A>T (p.Met774Leu) c.2731A>T (p.Met911Leu) c.*2373A>T (n.*2373A>T) n.2756A>T c.187A>T (p.Met63Leu) c.2653A>T (p.Met885Leu) c.655+2668A>T (n.655+2668A>T) c.1168-603A>T (n.1168-603A>T) c.2584A>T (p.Met862Leu) c.2647A>T (p.Met883Leu) c.2635A>T (p.Met879Leu) | |
2 | g.144398531T>C | CA348707571 | ZEB2 | c.*2505A>G (n.*2505A>G) c.1879A>G (p.Met627Val) c.2656A>G (p.Met886Val) n.2625A>G c.2320A>G (p.Met774Val) c.2731A>G (p.Met911Val) c.*2373A>G (n.*2373A>G) n.2756A>G c.187A>G (p.Met63Val) c.2653A>G (p.Met885Val) c.655+2668A>G (n.655+2668A>G) c.1168-603A>G (n.1168-603A>G) c.2584A>G (p.Met862Val) c.2647A>G (p.Met883Val) c.2635A>G (p.Met879Val) | |
2 | g.144398531T>G | CA57554865 | ZEB2 | c.*2505A>C (n.*2505A>C) c.1879A>C (p.Met627Leu) c.2656A>C (p.Met886Leu) n.2625A>C c.2320A>C (p.Met774Leu) c.2731A>C (p.Met911Leu) c.*2373A>C (n.*2373A>C) n.2756A>C c.187A>C (p.Met63Leu) c.2653A>C (p.Met885Leu) c.655+2668A>C (n.655+2668A>C) c.1168-603A>C (n.1168-603A>C) c.2584A>C (p.Met862Leu) c.2647A>C (p.Met883Leu) c.2635A>C (p.Met879Leu) | dbSNP gnomAD v4 |
2 | g.144398531T= | CA1294884929 | ZEB2 | c.*2505A= (n.*2505A=) c.1879A= (p.Met627=) c.2656A= (p.Met886=) n.2625A= c.2320A= (p.Met774=) c.2731A= (p.Met911=) c.*2373A= (n.*2373A=) n.2756A= c.187A= (p.Met63=) c.2653A= (p.Met885=) c.655+2668A= (n.655+2668A=) c.1168-603A= (n.1168-603A=) c.2584A= (p.Met862=) c.2647A= (p.Met883=) c.2635A= (p.Met879=) | |
2 | g.144398532G>A | CA429445098 | ZEB2 | c.*2504C>T (n.*2504C>T) c.1878C>T (p.Ser626=) c.2655C>T (p.Ser885=) n.2624C>T c.2319C>T (p.Ser773=) c.2730C>T (p.Ser910=) c.*2372C>T (n.*2372C>T) n.2755C>T c.186C>T (p.Ser62=) c.2652C>T (p.Ser884=) c.655+2667C>T (n.655+2667C>T) c.1168-604C>T (n.1168-604C>T) c.2583C>T (p.Ser861=) c.2646C>T (p.Ser882=) c.2634C>T (p.Ser878=) | ClinVar gnomAD v4 |
2 | g.144398532G>C | CA1898222 | ZEB2 | c.*2504C>G (n.*2504C>G) c.1878C>G (p.Ser626Arg) c.2655C>G (p.Ser885Arg) n.2624C>G c.2319C>G (p.Ser773Arg) c.2730C>G (p.Ser910Arg) c.*2372C>G (n.*2372C>G) n.2755C>G c.186C>G (p.Ser62Arg) c.2652C>G (p.Ser884Arg) c.655+2667C>G (n.655+2667C>G) c.1168-604C>G (n.1168-604C>G) c.2583C>G (p.Ser861Arg) c.2646C>G (p.Ser882Arg) c.2634C>G (p.Ser878Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.144398532G= | CA1294884930 | ZEB2 | c.*2504C= (n.*2504C=) c.1878C= (p.Ser626=) c.2655C= (p.Ser885=) n.2624C= c.2319C= (p.Ser773=) c.2730C= (p.Ser910=) c.*2372C= (n.*2372C=) n.2755C= c.186C= (p.Ser62=) c.2652C= (p.Ser884=) c.655+2667C= (n.655+2667C=) c.1168-604C= (n.1168-604C=) c.2583C= (p.Ser861=) c.2646C= (p.Ser882=) c.2634C= (p.Ser878=) | |
2 | g.144398532G>T | CA348707578 | ZEB2 | c.*2504C>A (n.*2504C>A) c.1878C>A (p.Ser626Arg) c.2655C>A (p.Ser885Arg) n.2624C>A c.2319C>A (p.Ser773Arg) c.2730C>A (p.Ser910Arg) c.*2372C>A (n.*2372C>A) n.2755C>A c.186C>A (p.Ser62Arg) c.2652C>A (p.Ser884Arg) c.655+2667C>A (n.655+2667C>A) c.1168-604C>A (n.1168-604C>A) c.2583C>A (p.Ser861Arg) c.2646C>A (p.Ser882Arg) c.2634C>A (p.Ser878Arg) | COSMIC |
2 | g.144398533C>A | CA348707580 | ZEB2 | c.*2503G>T (n.*2503G>T) c.1877G>T (p.Ser626Ile) c.2654G>T (p.Ser885Ile) n.2623G>T c.2318G>T (p.Ser773Ile) c.2729G>T (p.Ser910Ile) c.*2371G>T (n.*2371G>T) n.2754G>T c.185G>T (p.Ser62Ile) c.2651G>T (p.Ser884Ile) c.655+2666G>T (n.655+2666G>T) c.1168-605G>T (n.1168-605G>T) c.2582G>T (p.Ser861Ile) c.2645G>T (p.Ser882Ile) c.2633G>T (p.Ser878Ile) | ClinVar |
2 | g.144398533C>G | CA348707582 | ZEB2 | c.*2503G>C (n.*2503G>C) c.1877G>C (p.Ser626Thr) c.2654G>C (p.Ser885Thr) n.2623G>C c.2318G>C (p.Ser773Thr) c.2729G>C (p.Ser910Thr) c.*2371G>C (n.*2371G>C) n.2754G>C c.185G>C (p.Ser62Thr) c.2651G>C (p.Ser884Thr) c.655+2666G>C (n.655+2666G>C) c.1168-605G>C (n.1168-605G>C) c.2582G>C (p.Ser861Thr) c.2645G>C (p.Ser882Thr) c.2633G>C (p.Ser878Thr) | |
2 | g.144398533C>T | CA348707584 | ZEB2 | c.*2503G>A (n.*2503G>A) c.1877G>A (p.Ser626Asn) c.2654G>A (p.Ser885Asn) n.2623G>A c.2318G>A (p.Ser773Asn) c.2729G>A (p.Ser910Asn) c.*2371G>A (n.*2371G>A) n.2754G>A c.185G>A (p.Ser62Asn) c.2651G>A (p.Ser884Asn) c.655+2666G>A (n.655+2666G>A) c.1168-605G>A (n.1168-605G>A) c.2582G>A (p.Ser861Asn) c.2645G>A (p.Ser882Asn) c.2633G>A (p.Ser878Asn) | |
2 | g.144398534T>A | CA348707586 | ZEB2 | c.*2502A>T (n.*2502A>T) c.1876A>T (p.Ser626Cys) c.2653A>T (p.Ser885Cys) n.2622A>T c.2317A>T (p.Ser773Cys) c.2728A>T (p.Ser910Cys) c.*2370A>T (n.*2370A>T) n.2753A>T c.184A>T (p.Ser62Cys) c.2650A>T (p.Ser884Cys) c.655+2665A>T (n.655+2665A>T) c.1168-606A>T (n.1168-606A>T) c.2581A>T (p.Ser861Cys) c.2644A>T (p.Ser882Cys) c.2632A>T (p.Ser878Cys) | |
2 | g.144398534T>C | CA348707588 | ZEB2 | c.*2502A>G (n.*2502A>G) c.1876A>G (p.Ser626Gly) c.2653A>G (p.Ser885Gly) n.2622A>G c.2317A>G (p.Ser773Gly) c.2728A>G (p.Ser910Gly) c.*2370A>G (n.*2370A>G) n.2753A>G c.184A>G (p.Ser62Gly) c.2650A>G (p.Ser884Gly) c.655+2665A>G (n.655+2665A>G) c.1168-606A>G (n.1168-606A>G) c.2581A>G (p.Ser861Gly) c.2644A>G (p.Ser882Gly) c.2632A>G (p.Ser878Gly) | dbSNP |
2 | g.144398534T>G | CA348707590 | ZEB2 | c.*2502A>C (n.*2502A>C) c.1876A>C (p.Ser626Arg) c.2653A>C (p.Ser885Arg) n.2622A>C c.2317A>C (p.Ser773Arg) c.2728A>C (p.Ser910Arg) c.*2370A>C (n.*2370A>C) n.2753A>C c.184A>C (p.Ser62Arg) c.2650A>C (p.Ser884Arg) c.655+2665A>C (n.655+2665A>C) c.1168-606A>C (n.1168-606A>C) c.2581A>C (p.Ser861Arg) c.2644A>C (p.Ser882Arg) c.2632A>C (p.Ser878Arg) | |
2 | g.144398535G>A | CA429445104 | ZEB2 | c.*2501C>T (n.*2501C>T) c.1875C>T (p.Phe625=) c.2652C>T (p.Phe884=) n.2621C>T c.2316C>T (p.Phe772=) c.2727C>T (p.Phe909=) c.*2369C>T (n.*2369C>T) n.2752C>T c.183C>T (p.Phe61=) c.2649C>T (p.Phe883=) c.655+2664C>T (n.655+2664C>T) c.1168-607C>T (n.1168-607C>T) c.2580C>T (p.Phe860=) c.2643C>T (p.Phe881=) c.2631C>T (p.Phe877=) | |
2 | g.144398535G>C | CA348707592 | ZEB2 | c.*2501C>G (n.*2501C>G) c.1875C>G (p.Phe625Leu) c.2652C>G (p.Phe884Leu) n.2621C>G c.2316C>G (p.Phe772Leu) c.2727C>G (p.Phe909Leu) c.*2369C>G (n.*2369C>G) n.2752C>G c.183C>G (p.Phe61Leu) c.2649C>G (p.Phe883Leu) c.655+2664C>G (n.655+2664C>G) c.1168-607C>G (n.1168-607C>G) c.2580C>G (p.Phe860Leu) c.2643C>G (p.Phe881Leu) c.2631C>G (p.Phe877Leu) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.144398535G= | CA1294884931 | ZEB2 | c.*2501C= (n.*2501C=) c.1875C= (p.Phe625=) c.2652C= (p.Phe884=) n.2621C= c.2316C= (p.Phe772=) c.2727C= (p.Phe909=) c.*2369C= (n.*2369C=) n.2752C= c.183C= (p.Phe61=) c.2649C= (p.Phe883=) c.655+2664C= (n.655+2664C=) c.1168-607C= (n.1168-607C=) c.2580C= (p.Phe860=) c.2643C= (p.Phe881=) c.2631C= (p.Phe877=) | |
2 | g.144398535G>T | CA348707594 | ZEB2 | c.*2501C>A (n.*2501C>A) c.1875C>A (p.Phe625Leu) c.2652C>A (p.Phe884Leu) n.2621C>A c.2316C>A (p.Phe772Leu) c.2727C>A (p.Phe909Leu) c.*2369C>A (n.*2369C>A) n.2752C>A c.183C>A (p.Phe61Leu) c.2649C>A (p.Phe883Leu) c.655+2664C>A (n.655+2664C>A) c.1168-607C>A (n.1168-607C>A) c.2580C>A (p.Phe860Leu) c.2643C>A (p.Phe881Leu) c.2631C>A (p.Phe877Leu) | |
2 | g.144398536A>C | CA348707596 | ZEB2 | c.*2500T>G (n.*2500T>G) c.1874T>G (p.Phe625Cys) c.2651T>G (p.Phe884Cys) n.2620T>G c.2315T>G (p.Phe772Cys) c.2726T>G (p.Phe909Cys) c.*2368T>G (n.*2368T>G) n.2751T>G c.182T>G (p.Phe61Cys) c.2648T>G (p.Phe883Cys) c.655+2663T>G (n.655+2663T>G) c.1168-608T>G (n.1168-608T>G) c.2579T>G (p.Phe860Cys) c.2642T>G (p.Phe881Cys) c.2630T>G (p.Phe877Cys) | |
2 | g.144398536A>G | CA348707597 | ZEB2 | c.*2500T>C (n.*2500T>C) c.1874T>C (p.Phe625Ser) c.2651T>C (p.Phe884Ser) n.2620T>C c.2315T>C (p.Phe772Ser) c.2726T>C (p.Phe909Ser) c.*2368T>C (n.*2368T>C) n.2751T>C c.182T>C (p.Phe61Ser) c.2648T>C (p.Phe883Ser) c.655+2663T>C (n.655+2663T>C) c.1168-608T>C (n.1168-608T>C) c.2579T>C (p.Phe860Ser) c.2642T>C (p.Phe881Ser) c.2630T>C (p.Phe877Ser) | |
2 | g.144398536A>T | CA348707600 | ZEB2 | c.*2500T>A (n.*2500T>A) c.1874T>A (p.Phe625Tyr) c.2651T>A (p.Phe884Tyr) n.2620T>A c.2315T>A (p.Phe772Tyr) c.2726T>A (p.Phe909Tyr) c.*2368T>A (n.*2368T>A) n.2751T>A c.182T>A (p.Phe61Tyr) c.2648T>A (p.Phe883Tyr) c.655+2663T>A (n.655+2663T>A) c.1168-608T>A (n.1168-608T>A) c.2579T>A (p.Phe860Tyr) c.2642T>A (p.Phe881Tyr) c.2630T>A (p.Phe877Tyr) | |
2 | g.144398537A>C | CA348707606 | ZEB2 | c.*2499T>G (n.*2499T>G) c.1873T>G (p.Phe625Val) c.2650T>G (p.Phe884Val) n.2619T>G c.2314T>G (p.Phe772Val) c.2725T>G (p.Phe909Val) c.*2367T>G (n.*2367T>G) n.2750T>G c.181T>G (p.Phe61Val) c.2647T>G (p.Phe883Val) c.655+2662T>G (n.655+2662T>G) c.1168-609T>G (n.1168-609T>G) c.2578T>G (p.Phe860Val) c.2641T>G (p.Phe881Val) c.2629T>G (p.Phe877Val) | |
2 | g.144398537A>G | CA348707602 | ZEB2 | c.*2499T>C (n.*2499T>C) c.1873T>C (p.Phe625Leu) c.2650T>C (p.Phe884Leu) n.2619T>C c.2314T>C (p.Phe772Leu) c.2725T>C (p.Phe909Leu) c.*2367T>C (n.*2367T>C) n.2750T>C c.181T>C (p.Phe61Leu) c.2647T>C (p.Phe883Leu) c.655+2662T>C (n.655+2662T>C) c.1168-609T>C (n.1168-609T>C) c.2578T>C (p.Phe860Leu) c.2641T>C (p.Phe881Leu) c.2629T>C (p.Phe877Leu) | ClinVar gnomAD v4 |
2 | g.144398537A>T | CA348707604 | ZEB2 | c.*2499T>A (n.*2499T>A) c.1873T>A (p.Phe625Ile) c.2650T>A (p.Phe884Ile) n.2619T>A c.2314T>A (p.Phe772Ile) c.2725T>A (p.Phe909Ile) c.*2367T>A (n.*2367T>A) n.2750T>A c.181T>A (p.Phe61Ile) c.2647T>A (p.Phe883Ile) c.655+2662T>A (n.655+2662T>A) c.1168-609T>A (n.1168-609T>A) c.2578T>A (p.Phe860Ile) c.2641T>A (p.Phe881Ile) c.2629T>A (p.Phe877Ile) | |
2 | g.144398538C>A | CA429445121 | ZEB2 | c.*2498G>T (n.*2498G>T) c.1872G>T (p.Val624=) c.2649G>T (p.Val883=) n.2618G>T c.2313G>T (p.Val771=) c.2724G>T (p.Val908=) c.*2366G>T (n.*2366G>T) n.2749G>T c.180G>T (p.Val60=) c.2646G>T (p.Val882=) c.655+2661G>T (n.655+2661G>T) c.1168-610G>T (n.1168-610G>T) c.2577G>T (p.Val859=) c.2640G>T (p.Val880=) c.2628G>T (p.Val876=) | ClinVar |
2 | g.144398538C>G | CA429445122 | ZEB2 | c.*2498G>C (n.*2498G>C) c.1872G>C (p.Val624=) c.2649G>C (p.Val883=) n.2618G>C c.2313G>C (p.Val771=) c.2724G>C (p.Val908=) c.*2366G>C (n.*2366G>C) n.2749G>C c.180G>C (p.Val60=) c.2646G>C (p.Val882=) c.655+2661G>C (n.655+2661G>C) c.1168-610G>C (n.1168-610G>C) c.2577G>C (p.Val859=) c.2640G>C (p.Val880=) c.2628G>C (p.Val876=) | |
2 | g.144398538C>T | CA429445124 | ZEB2 | c.*2498G>A (n.*2498G>A) c.1872G>A (p.Val624=) c.2649G>A (p.Val883=) n.2618G>A c.2313G>A (p.Val771=) c.2724G>A (p.Val908=) c.*2366G>A (n.*2366G>A) n.2749G>A c.180G>A (p.Val60=) c.2646G>A (p.Val882=) c.655+2661G>A (n.655+2661G>A) c.1168-610G>A (n.1168-610G>A) c.2577G>A (p.Val859=) c.2640G>A (p.Val880=) c.2628G>A (p.Val876=) | gnomAD v4 |
2 | g.144398538_144398552delinsTTA | CA2740095695 | ZEB2 | c.*2484_*2498delinsTAA (n.*2484_*2498delinsTAA) c.1858_1872delinsTAA (p.Ser620Ter) c.2635_2649delinsTAA (p.Ser879Ter) n.2604_2618delinsTAA c.2299_2313delinsTAA (p.Ser767Ter) c.2710_2724delinsTAA (p.Ser904Ter) c.*2352_*2366delinsTAA (n.*2352_*2366delinsTAA) n.2735_2749delinsTAA c.166_180delinsTAA (p.Ser56Ter) c.2632_2646delinsTAA (p.Ser878Ter) c.655+2647_655+2661delinsTAA (n.655+2647_655+2661delinsTAA) c.1168-624_1168-610delinsTAA (n.1168-624_1168-610delinsTAA) c.2563_2577delinsTAA (p.Ser855Ter) c.2626_2640delinsTAA (p.Ser876Ter) c.2614_2628delinsTAA (p.Ser872Ter) | ClinVar |
2 | g.144398539A>C | CA348707608 | ZEB2 | c.*2497T>G (n.*2497T>G) c.1871T>G (p.Val624Gly) c.2648T>G (p.Val883Gly) n.2617T>G c.2312T>G (p.Val771Gly) c.2723T>G (p.Val908Gly) c.*2365T>G (n.*2365T>G) n.2748T>G c.179T>G (p.Val60Gly) c.2645T>G (p.Val882Gly) c.655+2660T>G (n.655+2660T>G) c.1168-611T>G (n.1168-611T>G) c.2576T>G (p.Val859Gly) c.2639T>G (p.Val880Gly) c.2627T>G (p.Val876Gly) | |
2 | g.144398539A>G | CA348707610 | ZEB2 | c.*2497T>C (n.*2497T>C) c.1871T>C (p.Val624Ala) c.2648T>C (p.Val883Ala) n.2617T>C c.2312T>C (p.Val771Ala) c.2723T>C (p.Val908Ala) c.*2365T>C (n.*2365T>C) n.2748T>C c.179T>C (p.Val60Ala) c.2645T>C (p.Val882Ala) c.655+2660T>C (n.655+2660T>C) c.1168-611T>C (n.1168-611T>C) c.2576T>C (p.Val859Ala) c.2639T>C (p.Val880Ala) c.2627T>C (p.Val876Ala) | |
2 | g.144398539A>T | CA348707611 | ZEB2 | c.*2497T>A (n.*2497T>A) c.1871T>A (p.Val624Glu) c.2648T>A (p.Val883Glu) n.2617T>A c.2312T>A (p.Val771Glu) c.2723T>A (p.Val908Glu) c.*2365T>A (n.*2365T>A) n.2748T>A c.179T>A (p.Val60Glu) c.2645T>A (p.Val882Glu) c.655+2660T>A (n.655+2660T>A) c.1168-611T>A (n.1168-611T>A) c.2576T>A (p.Val859Glu) c.2639T>A (p.Val880Glu) c.2627T>A (p.Val876Glu) | |
2 | g.144398540C>A | CA348707614 | ZEB2 | c.*2496G>T (n.*2496G>T) c.1870G>T (p.Val624Leu) c.2647G>T (p.Val883Leu) n.2616G>T c.2311G>T (p.Val771Leu) c.2722G>T (p.Val908Leu) c.*2364G>T (n.*2364G>T) n.2747G>T c.178G>T (p.Val60Leu) c.2644G>T (p.Val882Leu) c.655+2659G>T (n.655+2659G>T) c.1168-612G>T (n.1168-612G>T) c.2575G>T (p.Val859Leu) c.2638G>T (p.Val880Leu) c.2626G>T (p.Val876Leu) | |
2 | g.144398540C= | CA1294884932 | ZEB2 | c.*2496G= (n.*2496G=) c.1870G= (p.Val624=) c.2647G= (p.Val883=) n.2616G= c.2311G= (p.Val771=) c.2722G= (p.Val908=) c.*2364G= (n.*2364G=) n.2747G= c.178G= (p.Val60=) c.2644G= (p.Val882=) c.655+2659G= (n.655+2659G=) c.1168-612G= (n.1168-612G=) c.2575G= (p.Val859=) c.2638G= (p.Val880=) c.2626G= (p.Val876=) | |
2 | g.144398540C>G | CA348707615 | ZEB2 | c.*2496G>C (n.*2496G>C) c.1870G>C (p.Val624Leu) c.2647G>C (p.Val883Leu) n.2616G>C c.2311G>C (p.Val771Leu) c.2722G>C (p.Val908Leu) c.*2364G>C (n.*2364G>C) n.2747G>C c.178G>C (p.Val60Leu) c.2644G>C (p.Val882Leu) c.655+2659G>C (n.655+2659G>C) c.1168-612G>C (n.1168-612G>C) c.2575G>C (p.Val859Leu) c.2638G>C (p.Val880Leu) c.2626G>C (p.Val876Leu) | dbSNP |
2 | g.144398540C>T | CA1898223 | ZEB2 | c.*2496G>A (n.*2496G>A) c.1870G>A (p.Val624Met) c.2647G>A (p.Val883Met) n.2616G>A c.2311G>A (p.Val771Met) c.2722G>A (p.Val908Met) c.*2364G>A (n.*2364G>A) n.2747G>A c.178G>A (p.Val60Met) c.2644G>A (p.Val882Met) c.655+2659G>A (n.655+2659G>A) c.1168-612G>A (n.1168-612G>A) c.2575G>A (p.Val859Met) c.2638G>A (p.Val880Met) c.2626G>A (p.Val876Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.144398541del | CA2586970082 | ZEB2 | c.*2495del (n.*2495del) c.1869del (p.Val624CysfsTer4) c.2646del (p.Val883CysfsTer4) n.2615del c.2310del (p.Val771CysfsTer4) c.2721del (p.Val908CysfsTer4) c.*2363del (n.*2363del) n.2746del c.177del (p.Val60CysfsTer4) c.2643del (p.Val882CysfsTer4) c.655+2658del (n.655+2658del) c.1168-613del (n.1168-613del) c.2574del (p.Val859CysfsTer4) c.2637del (p.Val880CysfsTer4) c.2625del (p.Val876CysfsTer4) | |
2 | g.144398541T>A | CA429445136 | ZEB2 | c.*2495A>T (n.*2495A>T) c.1869A>T (p.Pro623=) c.2646A>T (p.Pro882=) n.2615A>T c.2310A>T (p.Pro770=) c.2721A>T (p.Pro907=) c.*2363A>T (n.*2363A>T) n.2746A>T c.177A>T (p.Pro59=) c.2643A>T (p.Pro881=) c.655+2658A>T (n.655+2658A>T) c.1168-613A>T (n.1168-613A>T) c.2574A>T (p.Pro858=) c.2637A>T (p.Pro879=) c.2625A>T (p.Pro875=) | |
2 | g.144398541T>C | CA1898224 | ZEB2 | c.*2495A>G (n.*2495A>G) c.1869A>G (p.Pro623=) c.2646A>G (p.Pro882=) n.2615A>G c.2310A>G (p.Pro770=) c.2721A>G (p.Pro907=) c.*2363A>G (n.*2363A>G) n.2746A>G c.177A>G (p.Pro59=) c.2643A>G (p.Pro881=) c.655+2658A>G (n.655+2658A>G) c.1168-613A>G (n.1168-613A>G) c.2574A>G (p.Pro858=) c.2637A>G (p.Pro879=) c.2625A>G (p.Pro875=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.144398541T>G | CA429445138 | ZEB2 | c.*2495A>C (n.*2495A>C) c.1869A>C (p.Pro623=) c.2646A>C (p.Pro882=) n.2615A>C c.2310A>C (p.Pro770=) c.2721A>C (p.Pro907=) c.*2363A>C (n.*2363A>C) n.2746A>C c.177A>C (p.Pro59=) c.2643A>C (p.Pro881=) c.655+2658A>C (n.655+2658A>C) c.1168-613A>C (n.1168-613A>C) c.2574A>C (p.Pro858=) c.2637A>C (p.Pro879=) c.2625A>C (p.Pro875=) | |
2 | g.144398541T= | CA1294884933 | ZEB2 | c.*2495A= (n.*2495A=) c.1869A= (p.Pro623=) c.2646A= (p.Pro882=) n.2615A= c.2310A= (p.Pro770=) c.2721A= (p.Pro907=) c.*2363A= (n.*2363A=) n.2746A= c.177A= (p.Pro59=) c.2643A= (p.Pro881=) c.655+2658A= (n.655+2658A=) c.1168-613A= (n.1168-613A=) c.2574A= (p.Pro858=) c.2637A= (p.Pro879=) c.2625A= (p.Pro875=) | |
2 | g.144398542G>A | CA348707623 | ZEB2 | c.*2494C>T (n.*2494C>T) c.1868C>T (p.Pro623Leu) c.2645C>T (p.Pro882Leu) n.2614C>T c.2309C>T (p.Pro770Leu) c.2720C>T (p.Pro907Leu) c.*2362C>T (n.*2362C>T) n.2745C>T c.176C>T (p.Pro59Leu) c.2642C>T (p.Pro881Leu) c.655+2657C>T (n.655+2657C>T) c.1168-614C>T (n.1168-614C>T) c.2573C>T (p.Pro858Leu) c.2636C>T (p.Pro879Leu) c.2624C>T (p.Pro875Leu) | COSMIC |
2 | g.144398542G>C | CA348707619 | ZEB2 | c.*2494C>G (n.*2494C>G) c.1868C>G (p.Pro623Arg) c.2645C>G (p.Pro882Arg) n.2614C>G c.2309C>G (p.Pro770Arg) c.2720C>G (p.Pro907Arg) c.*2362C>G (n.*2362C>G) n.2745C>G c.176C>G (p.Pro59Arg) c.2642C>G (p.Pro881Arg) c.655+2657C>G (n.655+2657C>G) c.1168-614C>G (n.1168-614C>G) c.2573C>G (p.Pro858Arg) c.2636C>G (p.Pro879Arg) c.2624C>G (p.Pro875Arg) | |
2 | g.144398542G>T | CA348707621 | ZEB2 | c.*2494C>A (n.*2494C>A) c.1868C>A (p.Pro623Gln) c.2645C>A (p.Pro882Gln) n.2614C>A c.2309C>A (p.Pro770Gln) c.2720C>A (p.Pro907Gln) c.*2362C>A (n.*2362C>A) n.2745C>A c.176C>A (p.Pro59Gln) c.2642C>A (p.Pro881Gln) c.655+2657C>A (n.655+2657C>A) c.1168-614C>A (n.1168-614C>A) c.2573C>A (p.Pro858Gln) c.2636C>A (p.Pro879Gln) c.2624C>A (p.Pro875Gln) | |
2 | g.144398544dup | CA2739271223 | ZEB2 | c.*2494dup (n.*2494dup) c.1868dup (p.Val624SerfsTer8) c.2645dup (p.Val883SerfsTer8) n.2614dup c.2309dup (p.Val771SerfsTer8) c.2720dup (p.Val908SerfsTer8) c.*2362dup (n.*2362dup) n.2745dup c.176dup (p.Val60SerfsTer8) c.2642dup (p.Val882SerfsTer8) c.655+2657dup (n.655+2657dup) c.1168-614dup (n.1168-614dup) c.2573dup (p.Val859SerfsTer8) c.2636dup (p.Val880SerfsTer8) c.2624dup (p.Val876SerfsTer8) | ClinVar |
2 | g.144398543G>A | CA348707625 | ZEB2 | c.*2493C>T (n.*2493C>T) c.1867C>T (p.Pro623Ser) c.2644C>T (p.Pro882Ser) n.2613C>T c.2308C>T (p.Pro770Ser) c.2719C>T (p.Pro907Ser) c.*2361C>T (n.*2361C>T) n.2744C>T c.175C>T (p.Pro59Ser) c.2641C>T (p.Pro881Ser) c.655+2656C>T (n.655+2656C>T) c.1168-615C>T (n.1168-615C>T) c.2572C>T (p.Pro858Ser) c.2635C>T (p.Pro879Ser) c.2623C>T (p.Pro875Ser) | ClinVar |
2 | g.144398543G>C | CA348707626 | ZEB2 | c.*2493C>G (n.*2493C>G) c.1867C>G (p.Pro623Ala) c.2644C>G (p.Pro882Ala) n.2613C>G c.2308C>G (p.Pro770Ala) c.2719C>G (p.Pro907Ala) c.*2361C>G (n.*2361C>G) n.2744C>G c.175C>G (p.Pro59Ala) c.2641C>G (p.Pro881Ala) c.655+2656C>G (n.655+2656C>G) c.1168-615C>G (n.1168-615C>G) c.2572C>G (p.Pro858Ala) c.2635C>G (p.Pro879Ala) c.2623C>G (p.Pro875Ala) | |
2 | g.144398543G>T | CA348707628 | ZEB2 | c.*2493C>A (n.*2493C>A) c.1867C>A (p.Pro623Thr) c.2644C>A (p.Pro882Thr) n.2613C>A c.2308C>A (p.Pro770Thr) c.2719C>A (p.Pro907Thr) c.*2361C>A (n.*2361C>A) n.2744C>A c.175C>A (p.Pro59Thr) c.2641C>A (p.Pro881Thr) c.655+2656C>A (n.655+2656C>A) c.1168-615C>A (n.1168-615C>A) c.2572C>A (p.Pro858Thr) c.2635C>A (p.Pro879Thr) c.2623C>A (p.Pro875Thr) | |
2 | g.144398544G>A | CA429445141 | ZEB2 | c.*2492C>T (n.*2492C>T) c.1866C>T (p.Asn622=) c.2643C>T (p.Asn881=) n.2612C>T c.2307C>T (p.Asn769=) c.2718C>T (p.Asn906=) c.*2360C>T (n.*2360C>T) n.2743C>T c.174C>T (p.Asn58=) c.2640C>T (p.Asn880=) c.655+2655C>T (n.655+2655C>T) c.1168-616C>T (n.1168-616C>T) c.2571C>T (p.Asn857=) c.2634C>T (p.Asn878=) c.2622C>T (p.Asn874=) | dbSNP gnomAD v4 |
2 | g.144398544G>C | CA348707630 | ZEB2 | c.*2492C>G (n.*2492C>G) c.1866C>G (p.Asn622Lys) c.2643C>G (p.Asn881Lys) n.2612C>G c.2307C>G (p.Asn769Lys) c.2718C>G (p.Asn906Lys) c.*2360C>G (n.*2360C>G) n.2743C>G c.174C>G (p.Asn58Lys) c.2640C>G (p.Asn880Lys) c.655+2655C>G (n.655+2655C>G) c.1168-616C>G (n.1168-616C>G) c.2571C>G (p.Asn857Lys) c.2634C>G (p.Asn878Lys) c.2622C>G (p.Asn874Lys) | |
2 | g.144398544G= | CA1294884934 | ZEB2 | c.*2492C= (n.*2492C=) c.1866C= (p.Asn622=) c.2643C= (p.Asn881=) n.2612C= c.2307C= (p.Asn769=) c.2718C= (p.Asn906=) c.*2360C= (n.*2360C=) n.2743C= c.174C= (p.Asn58=) c.2640C= (p.Asn880=) c.655+2655C= (n.655+2655C=) c.1168-616C= (n.1168-616C=) c.2571C= (p.Asn857=) c.2634C= (p.Asn878=) c.2622C= (p.Asn874=) | |
2 | g.144398544G>T | CA348707632 | ZEB2 | c.*2492C>A (n.*2492C>A) c.1866C>A (p.Asn622Lys) c.2643C>A (p.Asn881Lys) n.2612C>A c.2307C>A (p.Asn769Lys) c.2718C>A (p.Asn906Lys) c.*2360C>A (n.*2360C>A) n.2743C>A c.174C>A (p.Asn58Lys) c.2640C>A (p.Asn880Lys) c.655+2655C>A (n.655+2655C>A) c.1168-616C>A (n.1168-616C>A) c.2571C>A (p.Asn857Lys) c.2634C>A (p.Asn878Lys) c.2622C>A (p.Asn874Lys) | |
2 | g.144398545T>A | CA348707634 | ZEB2 | c.*2491A>T (n.*2491A>T) c.1865A>T (p.Asn622Ile) c.2642A>T (p.Asn881Ile) n.2611A>T c.2306A>T (p.Asn769Ile) c.2717A>T (p.Asn906Ile) c.*2359A>T (n.*2359A>T) n.2742A>T c.173A>T (p.Asn58Ile) c.2639A>T (p.Asn880Ile) c.655+2654A>T (n.655+2654A>T) c.1168-617A>T (n.1168-617A>T) c.2570A>T (p.Asn857Ile) c.2633A>T (p.Asn878Ile) c.2621A>T (p.Asn874Ile) | |
2 | g.144398545T>C | CA348707637 | ZEB2 | c.*2491A>G (n.*2491A>G) c.1865A>G (p.Asn622Ser) c.2642A>G (p.Asn881Ser) n.2611A>G c.2306A>G (p.Asn769Ser) c.2717A>G (p.Asn906Ser) c.*2359A>G (n.*2359A>G) n.2742A>G c.173A>G (p.Asn58Ser) c.2639A>G (p.Asn880Ser) c.655+2654A>G (n.655+2654A>G) c.1168-617A>G (n.1168-617A>G) c.2570A>G (p.Asn857Ser) c.2633A>G (p.Asn878Ser) c.2621A>G (p.Asn874Ser) | |
2 | g.144398545T>G | CA348707635 | ZEB2 | c.*2491A>C (n.*2491A>C) c.1865A>C (p.Asn622Thr) c.2642A>C (p.Asn881Thr) n.2611A>C c.2306A>C (p.Asn769Thr) c.2717A>C (p.Asn906Thr) c.*2359A>C (n.*2359A>C) n.2742A>C c.173A>C (p.Asn58Thr) c.2639A>C (p.Asn880Thr) c.655+2654A>C (n.655+2654A>C) c.1168-617A>C (n.1168-617A>C) c.2570A>C (p.Asn857Thr) c.2633A>C (p.Asn878Thr) c.2621A>C (p.Asn874Thr) | |
2 | g.144398546T>A | CA348707640 | ZEB2 | c.*2490A>T (n.*2490A>T) c.1864A>T (p.Asn622Tyr) c.2641A>T (p.Asn881Tyr) n.2610A>T c.2305A>T (p.Asn769Tyr) c.2716A>T (p.Asn906Tyr) c.*2358A>T (n.*2358A>T) n.2741A>T c.172A>T (p.Asn58Tyr) c.2638A>T (p.Asn880Tyr) c.655+2653A>T (n.655+2653A>T) c.1168-618A>T (n.1168-618A>T) c.2569A>T (p.Asn857Tyr) c.2632A>T (p.Asn878Tyr) c.2620A>T (p.Asn874Tyr) | |
2 | g.144398546T>C | CA348707641 | ZEB2 | c.*2490A>G (n.*2490A>G) c.1864A>G (p.Asn622Asp) c.2641A>G (p.Asn881Asp) n.2610A>G c.2305A>G (p.Asn769Asp) c.2716A>G (p.Asn906Asp) c.*2358A>G (n.*2358A>G) n.2741A>G c.172A>G (p.Asn58Asp) c.2638A>G (p.Asn880Asp) c.655+2653A>G (n.655+2653A>G) c.1168-618A>G (n.1168-618A>G) c.2569A>G (p.Asn857Asp) c.2632A>G (p.Asn878Asp) c.2620A>G (p.Asn874Asp) | |
2 | g.144398546T>G | CA247713 | ZEB2 | c.*2490A>C (n.*2490A>C) c.1864A>C (p.Asn622His) c.2641A>C (p.Asn881His) n.2610A>C c.2305A>C (p.Asn769His) c.2716A>C (p.Asn906His) c.*2358A>C (n.*2358A>C) n.2741A>C c.172A>C (p.Asn58His) c.2638A>C (p.Asn880His) c.655+2653A>C (n.655+2653A>C) c.1168-618A>C (n.1168-618A>C) c.2569A>C (p.Asn857His) c.2632A>C (p.Asn878His) c.2620A>C (p.Asn874His) | ClinVar dbSNP gnomAD v4 |
2 | g.144398546T= | CA1294884935 | ZEB2 | c.*2490A= (n.*2490A=) c.1864A= (p.Asn622=) c.2641A= (p.Asn881=) n.2610A= c.2305A= (p.Asn769=) c.2716A= (p.Asn906=) c.*2358A= (n.*2358A=) n.2741A= c.172A= (p.Asn58=) c.2638A= (p.Asn880=) c.655+2653A= (n.655+2653A=) c.1168-618A= (n.1168-618A=) c.2569A= (p.Asn857=) c.2632A= (p.Asn878=) c.2620A= (p.Asn874=) | |
2 | g.144398547A= | CA1294884936 | ZEB2 | c.*2489T= (n.*2489T=) c.1863T= (p.Thr621=) c.2640T= (p.Thr880=) n.2609T= c.2304T= (p.Thr768=) c.2715T= (p.Thr905=) c.*2357T= (n.*2357T=) n.2740T= c.171T= (p.Thr57=) c.2637T= (p.Thr879=) c.655+2652T= (n.655+2652T=) c.1168-619T= (n.1168-619T=) c.2568T= (p.Thr856=) c.2631T= (p.Thr877=) c.2619T= (p.Thr873=) | |
2 | g.144398547A>C | CA429445153 | ZEB2 | c.*2489T>G (n.*2489T>G) c.1863T>G (p.Thr621=) c.2640T>G (p.Thr880=) n.2609T>G c.2304T>G (p.Thr768=) c.2715T>G (p.Thr905=) c.*2357T>G (n.*2357T>G) n.2740T>G c.171T>G (p.Thr57=) c.2637T>G (p.Thr879=) c.655+2652T>G (n.655+2652T>G) c.1168-619T>G (n.1168-619T>G) c.2568T>G (p.Thr856=) c.2631T>G (p.Thr877=) c.2619T>G (p.Thr873=) | |
2 | g.144398547A>G | CA429445154 | ZEB2 | c.*2489T>C (n.*2489T>C) c.1863T>C (p.Thr621=) c.2640T>C (p.Thr880=) n.2609T>C c.2304T>C (p.Thr768=) c.2715T>C (p.Thr905=) c.*2357T>C (n.*2357T>C) n.2740T>C c.171T>C (p.Thr57=) c.2637T>C (p.Thr879=) c.655+2652T>C (n.655+2652T>C) c.1168-619T>C (n.1168-619T>C) c.2568T>C (p.Thr856=) c.2631T>C (p.Thr877=) c.2619T>C (p.Thr873=) | |
2 | g.144398547A>T | CA429445156 | ZEB2 | c.*2489T>A (n.*2489T>A) c.1863T>A (p.Thr621=) c.2640T>A (p.Thr880=) n.2609T>A c.2304T>A (p.Thr768=) c.2715T>A (p.Thr905=) c.*2357T>A (n.*2357T>A) n.2740T>A c.171T>A (p.Thr57=) c.2637T>A (p.Thr879=) c.655+2652T>A (n.655+2652T>A) c.1168-619T>A (n.1168-619T>A) c.2568T>A (p.Thr856=) c.2631T>A (p.Thr877=) c.2619T>A (p.Thr873=) | dbSNP gnomAD v4 |
2 | g.144398548G>A | CA348707645 | ZEB2 | c.*2488C>T (n.*2488C>T) c.1862C>T (p.Thr621Ile) c.2639C>T (p.Thr880Ile) n.2608C>T c.2303C>T (p.Thr768Ile) c.2714C>T (p.Thr905Ile) c.*2356C>T (n.*2356C>T) n.2739C>T c.170C>T (p.Thr57Ile) c.2636C>T (p.Thr879Ile) c.655+2651C>T (n.655+2651C>T) c.1168-620C>T (n.1168-620C>T) c.2567C>T (p.Thr856Ile) c.2630C>T (p.Thr877Ile) c.2618C>T (p.Thr873Ile) | |
2 | g.144398548G>C | CA348707647 | ZEB2 | c.*2488C>G (n.*2488C>G) c.1862C>G (p.Thr621Ser) c.2639C>G (p.Thr880Ser) n.2608C>G c.2303C>G (p.Thr768Ser) c.2714C>G (p.Thr905Ser) c.*2356C>G (n.*2356C>G) n.2739C>G c.170C>G (p.Thr57Ser) c.2636C>G (p.Thr879Ser) c.655+2651C>G (n.655+2651C>G) c.1168-620C>G (n.1168-620C>G) c.2567C>G (p.Thr856Ser) c.2630C>G (p.Thr877Ser) c.2618C>G (p.Thr873Ser) | gnomAD v4 |
2 | g.144398548G>T | CA348707648 | ZEB2 | c.*2488C>A (n.*2488C>A) c.1862C>A (p.Thr621Asn) c.2639C>A (p.Thr880Asn) n.2608C>A c.2303C>A (p.Thr768Asn) c.2714C>A (p.Thr905Asn) c.*2356C>A (n.*2356C>A) n.2739C>A c.170C>A (p.Thr57Asn) c.2636C>A (p.Thr879Asn) c.655+2651C>A (n.655+2651C>A) c.1168-620C>A (n.1168-620C>A) c.2567C>A (p.Thr856Asn) c.2630C>A (p.Thr877Asn) c.2618C>A (p.Thr873Asn) | |
2 | g.144398549T>A | CA348707651 | ZEB2 | c.*2487A>T (n.*2487A>T) c.1861A>T (p.Thr621Ser) c.2638A>T (p.Thr880Ser) n.2607A>T c.2302A>T (p.Thr768Ser) c.2713A>T (p.Thr905Ser) c.*2355A>T (n.*2355A>T) n.2738A>T c.169A>T (p.Thr57Ser) c.2635A>T (p.Thr879Ser) c.655+2650A>T (n.655+2650A>T) c.1168-621A>T (n.1168-621A>T) c.2566A>T (p.Thr856Ser) c.2629A>T (p.Thr877Ser) c.2617A>T (p.Thr873Ser) | gnomAD v4 |
2 | g.144398549T>C | CA348707652 | ZEB2 | c.*2487A>G (n.*2487A>G) c.1861A>G (p.Thr621Ala) c.2638A>G (p.Thr880Ala) n.2607A>G c.2302A>G (p.Thr768Ala) c.2713A>G (p.Thr905Ala) c.*2355A>G (n.*2355A>G) n.2738A>G c.169A>G (p.Thr57Ala) c.2635A>G (p.Thr879Ala) c.655+2650A>G (n.655+2650A>G) c.1168-621A>G (n.1168-621A>G) c.2566A>G (p.Thr856Ala) c.2629A>G (p.Thr877Ala) c.2617A>G (p.Thr873Ala) | |
2 | g.144398549T>G | CA348707653 | ZEB2 | c.*2487A>C (n.*2487A>C) c.1861A>C (p.Thr621Pro) c.2638A>C (p.Thr880Pro) n.2607A>C c.2302A>C (p.Thr768Pro) c.2713A>C (p.Thr905Pro) c.*2355A>C (n.*2355A>C) n.2738A>C c.169A>C (p.Thr57Pro) c.2635A>C (p.Thr879Pro) c.655+2650A>C (n.655+2650A>C) c.1168-621A>C (n.1168-621A>C) c.2566A>C (p.Thr856Pro) c.2629A>C (p.Thr877Pro) c.2617A>C (p.Thr873Pro) | |
2 | g.144398550G>A | CA429445163 | ZEB2 | c.*2486C>T (n.*2486C>T) c.1860C>T (p.Ser620=) c.2637C>T (p.Ser879=) n.2606C>T c.2301C>T (p.Ser767=) c.2712C>T (p.Ser904=) c.*2354C>T (n.*2354C>T) n.2737C>T c.168C>T (p.Ser56=) c.2634C>T (p.Ser878=) c.655+2649C>T (n.655+2649C>T) c.1168-622C>T (n.1168-622C>T) c.2565C>T (p.Ser855=) c.2628C>T (p.Ser876=) c.2616C>T (p.Ser872=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.144398550G>C | CA348707655 | ZEB2 | c.*2486C>G (n.*2486C>G) c.1860C>G (p.Ser620Arg) c.2637C>G (p.Ser879Arg) n.2606C>G c.2301C>G (p.Ser767Arg) c.2712C>G (p.Ser904Arg) c.*2354C>G (n.*2354C>G) n.2737C>G c.168C>G (p.Ser56Arg) c.2634C>G (p.Ser878Arg) c.655+2649C>G (n.655+2649C>G) c.1168-622C>G (n.1168-622C>G) c.2565C>G (p.Ser855Arg) c.2628C>G (p.Ser876Arg) c.2616C>G (p.Ser872Arg) | |
2 | g.144398550G= | CA1294884937 | ZEB2 | c.*2486C= (n.*2486C=) c.1860C= (p.Ser620=) c.2637C= (p.Ser879=) n.2606C= c.2301C= (p.Ser767=) c.2712C= (p.Ser904=) c.*2354C= (n.*2354C=) n.2737C= c.168C= (p.Ser56=) c.2634C= (p.Ser878=) c.655+2649C= (n.655+2649C=) c.1168-622C= (n.1168-622C=) c.2565C= (p.Ser855=) c.2628C= (p.Ser876=) c.2616C= (p.Ser872=) | |
2 | g.144398550G>T | CA348707657 | ZEB2 | c.*2486C>A (n.*2486C>A) c.1860C>A (p.Ser620Arg) c.2637C>A (p.Ser879Arg) n.2606C>A c.2301C>A (p.Ser767Arg) c.2712C>A (p.Ser904Arg) c.*2354C>A (n.*2354C>A) n.2737C>A c.168C>A (p.Ser56Arg) c.2634C>A (p.Ser878Arg) c.655+2649C>A (n.655+2649C>A) c.1168-622C>A (n.1168-622C>A) c.2565C>A (p.Ser855Arg) c.2628C>A (p.Ser876Arg) c.2616C>A (p.Ser872Arg) | |
2 | g.144398551C>A | CA1898225 | ZEB2 | c.*2485G>T (n.*2485G>T) c.1859G>T (p.Ser620Ile) c.2636G>T (p.Ser879Ile) n.2605G>T c.2300G>T (p.Ser767Ile) c.2711G>T (p.Ser904Ile) c.*2353G>T (n.*2353G>T) n.2736G>T c.167G>T (p.Ser56Ile) c.2633G>T (p.Ser878Ile) c.655+2648G>T (n.655+2648G>T) c.1168-623G>T (n.1168-623G>T) c.2564G>T (p.Ser855Ile) c.2627G>T (p.Ser876Ile) c.2615G>T (p.Ser872Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.144398551C= | CA1294884938 | ZEB2 | c.*2485G= (n.*2485G=) c.1859G= (p.Ser620=) c.2636G= (p.Ser879=) n.2605G= c.2300G= (p.Ser767=) c.2711G= (p.Ser904=) c.*2353G= (n.*2353G=) n.2736G= c.167G= (p.Ser56=) c.2633G= (p.Ser878=) c.655+2648G= (n.655+2648G=) c.1168-623G= (n.1168-623G=) c.2564G= (p.Ser855=) c.2627G= (p.Ser876=) c.2615G= (p.Ser872=) | |
2 | g.144398551C>G | CA348707663 | ZEB2 | c.*2485G>C (n.*2485G>C) c.1859G>C (p.Ser620Thr) c.2636G>C (p.Ser879Thr) n.2605G>C c.2300G>C (p.Ser767Thr) c.2711G>C (p.Ser904Thr) c.*2353G>C (n.*2353G>C) n.2736G>C c.167G>C (p.Ser56Thr) c.2633G>C (p.Ser878Thr) c.655+2648G>C (n.655+2648G>C) c.1168-623G>C (n.1168-623G>C) c.2564G>C (p.Ser855Thr) c.2627G>C (p.Ser876Thr) c.2615G>C (p.Ser872Thr) | |
2 | g.144398551C>T | CA348707661 | ZEB2 | c.*2485G>A (n.*2485G>A) c.1859G>A (p.Ser620Asn) c.2636G>A (p.Ser879Asn) n.2605G>A c.2300G>A (p.Ser767Asn) c.2711G>A (p.Ser904Asn) c.*2353G>A (n.*2353G>A) n.2736G>A c.167G>A (p.Ser56Asn) c.2633G>A (p.Ser878Asn) c.655+2648G>A (n.655+2648G>A) c.1168-623G>A (n.1168-623G>A) c.2564G>A (p.Ser855Asn) c.2627G>A (p.Ser876Asn) c.2615G>A (p.Ser872Asn) | gnomAD v4 |
2 | g.144398552T>A | CA348707666 | ZEB2 | c.*2484A>T (n.*2484A>T) c.1858A>T (p.Ser620Cys) c.2635A>T (p.Ser879Cys) n.2604A>T c.2299A>T (p.Ser767Cys) c.2710A>T (p.Ser904Cys) c.*2352A>T (n.*2352A>T) n.2735A>T c.166A>T (p.Ser56Cys) c.2632A>T (p.Ser878Cys) c.655+2647A>T (n.655+2647A>T) c.1168-624A>T (n.1168-624A>T) c.2563A>T (p.Ser855Cys) c.2626A>T (p.Ser876Cys) c.2614A>T (p.Ser872Cys) | |
2 | g.144398552T>C | CA348707668 | ZEB2 | c.*2484A>G (n.*2484A>G) c.1858A>G (p.Ser620Gly) c.2635A>G (p.Ser879Gly) n.2604A>G c.2299A>G (p.Ser767Gly) c.2710A>G (p.Ser904Gly) c.*2352A>G (n.*2352A>G) n.2735A>G c.166A>G (p.Ser56Gly) c.2632A>G (p.Ser878Gly) c.655+2647A>G (n.655+2647A>G) c.1168-624A>G (n.1168-624A>G) c.2563A>G (p.Ser855Gly) c.2626A>G (p.Ser876Gly) c.2614A>G (p.Ser872Gly) | |
2 | g.144398552T>G | CA348707667 | ZEB2 | c.*2484A>C (n.*2484A>C) c.1858A>C (p.Ser620Arg) c.2635A>C (p.Ser879Arg) n.2604A>C c.2299A>C (p.Ser767Arg) c.2710A>C (p.Ser904Arg) c.*2352A>C (n.*2352A>C) n.2735A>C c.166A>C (p.Ser56Arg) c.2632A>C (p.Ser878Arg) c.655+2647A>C (n.655+2647A>C) c.1168-624A>C (n.1168-624A>C) c.2563A>C (p.Ser855Arg) c.2626A>C (p.Ser876Arg) c.2614A>C (p.Ser872Arg) | |
2 | g.144398555del | CA2586970083 | ZEB2 | c.*2484del (n.*2484del) c.1858del (p.Ser620AlafsTer8) c.2635del (p.Ser879AlafsTer8) n.2604del c.2299del (p.Ser767AlafsTer8) c.2710del (p.Ser904AlafsTer8) c.*2352del (n.*2352del) n.2735del c.166del (p.Ser56AlafsTer8) c.2632del (p.Ser878AlafsTer8) c.655+2647del (n.655+2647del) c.1168-624del (n.1168-624del) c.2563del (p.Ser855AlafsTer8) c.2626del (p.Ser876AlafsTer8) c.2614del (p.Ser872AlafsTer8) | |
2 | g.144398553T>A | CA348707671 | ZEB2 | c.*2483A>T (n.*2483A>T) c.1857A>T (p.Lys619Asn) c.2634A>T (p.Lys878Asn) n.2603A>T c.2298A>T (p.Lys766Asn) c.2709A>T (p.Lys903Asn) c.*2351A>T (n.*2351A>T) n.2734A>T c.165A>T (p.Lys55Asn) c.2631A>T (p.Lys877Asn) c.655+2646A>T (n.655+2646A>T) c.1168-625A>T (n.1168-625A>T) c.2562A>T (p.Lys854Asn) c.2625A>T (p.Lys875Asn) c.2613A>T (p.Lys871Asn) | |
2 | g.144398553T>C | CA429445172 | ZEB2 | c.*2483A>G (n.*2483A>G) c.1857A>G (p.Lys619=) c.2634A>G (p.Lys878=) n.2603A>G c.2298A>G (p.Lys766=) c.2709A>G (p.Lys903=) c.*2351A>G (n.*2351A>G) n.2734A>G c.165A>G (p.Lys55=) c.2631A>G (p.Lys877=) c.655+2646A>G (n.655+2646A>G) c.1168-625A>G (n.1168-625A>G) c.2562A>G (p.Lys854=) c.2625A>G (p.Lys875=) c.2613A>G (p.Lys871=) | |
2 | g.144398553T>G | CA348707672 | ZEB2 | c.*2483A>C (n.*2483A>C) c.1857A>C (p.Lys619Asn) c.2634A>C (p.Lys878Asn) n.2603A>C c.2298A>C (p.Lys766Asn) c.2709A>C (p.Lys903Asn) c.*2351A>C (n.*2351A>C) n.2734A>C c.165A>C (p.Lys55Asn) c.2631A>C (p.Lys877Asn) c.655+2646A>C (n.655+2646A>C) c.1168-625A>C (n.1168-625A>C) c.2562A>C (p.Lys854Asn) c.2625A>C (p.Lys875Asn) c.2613A>C (p.Lys871Asn) | |
2 | g.144398554T>A | CA348707674 | ZEB2 | c.*2482A>T (n.*2482A>T) c.1856A>T (p.Lys619Ile) c.2633A>T (p.Lys878Ile) n.2602A>T c.2297A>T (p.Lys766Ile) c.2708A>T (p.Lys903Ile) c.*2350A>T (n.*2350A>T) n.2733A>T c.164A>T (p.Lys55Ile) c.2630A>T (p.Lys877Ile) c.655+2645A>T (n.655+2645A>T) c.1168-626A>T (n.1168-626A>T) c.2561A>T (p.Lys854Ile) c.2624A>T (p.Lys875Ile) c.2612A>T (p.Lys871Ile) | |
2 | g.144398554T>C | CA348707676 | ZEB2 | c.*2482A>G (n.*2482A>G) c.1856A>G (p.Lys619Arg) c.2633A>G (p.Lys878Arg) n.2602A>G c.2297A>G (p.Lys766Arg) c.2708A>G (p.Lys903Arg) c.*2350A>G (n.*2350A>G) n.2733A>G c.164A>G (p.Lys55Arg) c.2630A>G (p.Lys877Arg) c.655+2645A>G (n.655+2645A>G) c.1168-626A>G (n.1168-626A>G) c.2561A>G (p.Lys854Arg) c.2624A>G (p.Lys875Arg) c.2612A>G (p.Lys871Arg) | gnomAD v3 gnomAD v4 |
2 | g.144398554T>G | CA348707678 | ZEB2 | c.*2482A>C (n.*2482A>C) c.1856A>C (p.Lys619Thr) c.2633A>C (p.Lys878Thr) n.2602A>C c.2297A>C (p.Lys766Thr) c.2708A>C (p.Lys903Thr) c.*2350A>C (n.*2350A>C) n.2733A>C c.164A>C (p.Lys55Thr) c.2630A>C (p.Lys877Thr) c.655+2645A>C (n.655+2645A>C) c.1168-626A>C (n.1168-626A>C) c.2561A>C (p.Lys854Thr) c.2624A>C (p.Lys875Thr) c.2612A>C (p.Lys871Thr) | |
2 | g.144398558_144398560del | CA429445174 | ZEB2 | c.*2480_*2482del (n.*2480_*2482del) c.1854_1856del (p.Asn618del) c.2631_2633del (p.Asn877del) n.2600_2602del c.2295_2297del (p.Asn765del) c.2706_2708del (p.Asn902del) c.*2348_*2350del (n.*2348_*2350del) n.2731_2733del c.162_164del (p.Asn54del) c.2628_2630del (p.Asn876del) c.655+2643_655+2645del (n.655+2643_655+2645del) c.1168-628_1168-626del (n.1168-628_1168-626del) c.2559_2561del (p.Asn853del) c.2622_2624del (p.Asn874del) c.2610_2612del (p.Asn870del) | |
2 | g.144398555T>A | CA348707680 | ZEB2 | c.*2481A>T (n.*2481A>T) c.1855A>T (p.Lys619Ter) c.2632A>T (p.Lys878Ter) n.2601A>T c.2296A>T (p.Lys766Ter) c.2707A>T (p.Lys903Ter) c.*2349A>T (n.*2349A>T) n.2732A>T c.163A>T (p.Lys55Ter) c.2629A>T (p.Lys877Ter) c.655+2644A>T (n.655+2644A>T) c.1168-627A>T (n.1168-627A>T) c.2560A>T (p.Lys854Ter) c.2623A>T (p.Lys875Ter) c.2611A>T (p.Lys871Ter) | |
2 | g.144398555T>C | CA348707681 | ZEB2 | c.*2481A>G (n.*2481A>G) c.1855A>G (p.Lys619Glu) c.2632A>G (p.Lys878Glu) n.2601A>G c.2296A>G (p.Lys766Glu) c.2707A>G (p.Lys903Glu) c.*2349A>G (n.*2349A>G) n.2732A>G c.163A>G (p.Lys55Glu) c.2629A>G (p.Lys877Glu) c.655+2644A>G (n.655+2644A>G) c.1168-627A>G (n.1168-627A>G) c.2560A>G (p.Lys854Glu) c.2623A>G (p.Lys875Glu) c.2611A>G (p.Lys871Glu) | dbSNP gnomAD v4 |
2 | g.144398555T>G | CA348707682 | ZEB2 | c.*2481A>C (n.*2481A>C) c.1855A>C (p.Lys619Gln) c.2632A>C (p.Lys878Gln) n.2601A>C c.2296A>C (p.Lys766Gln) c.2707A>C (p.Lys903Gln) c.*2349A>C (n.*2349A>C) n.2732A>C c.163A>C (p.Lys55Gln) c.2629A>C (p.Lys877Gln) c.655+2644A>C (n.655+2644A>C) c.1168-627A>C (n.1168-627A>C) c.2560A>C (p.Lys854Gln) c.2623A>C (p.Lys875Gln) c.2611A>C (p.Lys871Gln) | |
2 | g.144398555T= | CA1294884939 | ZEB2 | c.*2481A= (n.*2481A=) c.1855A= (p.Lys619=) c.2632A= (p.Lys878=) n.2601A= c.2296A= (p.Lys766=) c.2707A= (p.Lys903=) c.*2349A= (n.*2349A=) n.2732A= c.163A= (p.Lys55=) c.2629A= (p.Lys877=) c.655+2644A= (n.655+2644A=) c.1168-627A= (n.1168-627A=) c.2560A= (p.Lys854=) c.2623A= (p.Lys875=) c.2611A= (p.Lys871=) | |
2 | g.144398556G>A | CA429445176 | ZEB2 | c.*2480C>T (n.*2480C>T) c.1854C>T (p.Asn618=) c.2631C>T (p.Asn877=) n.2600C>T c.2295C>T (p.Asn765=) c.2706C>T (p.Asn902=) c.*2348C>T (n.*2348C>T) n.2731C>T c.162C>T (p.Asn54=) c.2628C>T (p.Asn876=) c.655+2643C>T (n.655+2643C>T) c.1168-628C>T (n.1168-628C>T) c.2559C>T (p.Asn853=) c.2622C>T (p.Asn874=) c.2610C>T (p.Asn870=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.144398556G>C | CA348707684 | ZEB2 | c.*2480C>G (n.*2480C>G) c.1854C>G (p.Asn618Lys) c.2631C>G (p.Asn877Lys) n.2600C>G c.2295C>G (p.Asn765Lys) c.2706C>G (p.Asn902Lys) c.*2348C>G (n.*2348C>G) n.2731C>G c.162C>G (p.Asn54Lys) c.2628C>G (p.Asn876Lys) c.655+2643C>G (n.655+2643C>G) c.1168-628C>G (n.1168-628C>G) c.2559C>G (p.Asn853Lys) c.2622C>G (p.Asn874Lys) c.2610C>G (p.Asn870Lys) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.144398556G= | CA1294884940 | ZEB2 | c.*2480C= (n.*2480C=) c.1854C= (p.Asn618=) c.2631C= (p.Asn877=) n.2600C= c.2295C= (p.Asn765=) c.2706C= (p.Asn902=) c.*2348C= (n.*2348C=) n.2731C= c.162C= (p.Asn54=) c.2628C= (p.Asn876=) c.655+2643C= (n.655+2643C=) c.1168-628C= (n.1168-628C=) c.2559C= (p.Asn853=) c.2622C= (p.Asn874=) c.2610C= (p.Asn870=) | |
2 | g.144398556G>T | CA348707686 | ZEB2 | c.*2480C>A (n.*2480C>A) c.1854C>A (p.Asn618Lys) c.2631C>A (p.Asn877Lys) n.2600C>A c.2295C>A (p.Asn765Lys) c.2706C>A (p.Asn902Lys) c.*2348C>A (n.*2348C>A) n.2731C>A c.162C>A (p.Asn54Lys) c.2628C>A (p.Asn876Lys) c.655+2643C>A (n.655+2643C>A) c.1168-628C>A (n.1168-628C>A) c.2559C>A (p.Asn853Lys) c.2622C>A (p.Asn874Lys) c.2610C>A (p.Asn870Lys) | gnomAD v4 |
2 | g.144398557T>A | CA348707688 | ZEB2 | c.*2479A>T (n.*2479A>T) c.1853A>T (p.Asn618Ile) c.2630A>T (p.Asn877Ile) n.2599A>T c.2294A>T (p.Asn765Ile) c.2705A>T (p.Asn902Ile) c.*2347A>T (n.*2347A>T) n.2730A>T c.161A>T (p.Asn54Ile) c.2627A>T (p.Asn876Ile) c.655+2642A>T (n.655+2642A>T) c.1168-629A>T (n.1168-629A>T) c.2558A>T (p.Asn853Ile) c.2621A>T (p.Asn874Ile) c.2609A>T (p.Asn870Ile) | |
2 | g.144398557T>C | CA348707689 | ZEB2 | c.*2479A>G (n.*2479A>G) c.1853A>G (p.Asn618Ser) c.2630A>G (p.Asn877Ser) n.2599A>G c.2294A>G (p.Asn765Ser) c.2705A>G (p.Asn902Ser) c.*2347A>G (n.*2347A>G) n.2730A>G c.161A>G (p.Asn54Ser) c.2627A>G (p.Asn876Ser) c.655+2642A>G (n.655+2642A>G) c.1168-629A>G (n.1168-629A>G) c.2558A>G (p.Asn853Ser) c.2621A>G (p.Asn874Ser) c.2609A>G (p.Asn870Ser) | |
2 | g.144398557T>G | CA348707691 | ZEB2 | c.*2479A>C (n.*2479A>C) c.1853A>C (p.Asn618Thr) c.2630A>C (p.Asn877Thr) n.2599A>C c.2294A>C (p.Asn765Thr) c.2705A>C (p.Asn902Thr) c.*2347A>C (n.*2347A>C) n.2730A>C c.161A>C (p.Asn54Thr) c.2627A>C (p.Asn876Thr) c.655+2642A>C (n.655+2642A>C) c.1168-629A>C (n.1168-629A>C) c.2558A>C (p.Asn853Thr) c.2621A>C (p.Asn874Thr) c.2609A>C (p.Asn870Thr) | |
2 | g.144398558dup | CA2697551038 | ZEB2 | c.*2479dup (n.*2479dup) c.1853dup (p.Asn618LysfsTer5) c.2630dup (p.Asn877LysfsTer5) n.2599dup c.2294dup (p.Asn765LysfsTer5) c.2705dup (p.Asn902LysfsTer5) c.*2347dup (n.*2347dup) n.2730dup c.161dup (p.Asn54LysfsTer5) c.2627dup (p.Asn876LysfsTer5) c.655+2642dup (n.655+2642dup) c.1168-629dup (n.1168-629dup) c.2558dup (p.Asn853LysfsTer5) c.2621dup (p.Asn874LysfsTer5) c.2609dup (p.Asn870LysfsTer5) | ClinVar |
2 | g.144398558T>A | CA348707693 | ZEB2 | c.*2478A>T (n.*2478A>T) c.1852A>T (p.Asn618Tyr) c.2629A>T (p.Asn877Tyr) n.2598A>T c.2293A>T (p.Asn765Tyr) c.2704A>T (p.Asn902Tyr) c.*2346A>T (n.*2346A>T) n.2729A>T c.160A>T (p.Asn54Tyr) c.2626A>T (p.Asn876Tyr) c.655+2641A>T (n.655+2641A>T) c.1168-630A>T (n.1168-630A>T) c.2557A>T (p.Asn853Tyr) c.2620A>T (p.Asn874Tyr) c.2608A>T (p.Asn870Tyr) | |
2 | g.144398558T>C | CA348707697 | ZEB2 | c.*2478A>G (n.*2478A>G) c.1852A>G (p.Asn618Asp) c.2629A>G (p.Asn877Asp) n.2598A>G c.2293A>G (p.Asn765Asp) c.2704A>G (p.Asn902Asp) c.*2346A>G (n.*2346A>G) n.2729A>G c.160A>G (p.Asn54Asp) c.2626A>G (p.Asn876Asp) c.655+2641A>G (n.655+2641A>G) c.1168-630A>G (n.1168-630A>G) c.2557A>G (p.Asn853Asp) c.2620A>G (p.Asn874Asp) c.2608A>G (p.Asn870Asp) | |
2 | g.144398558T>G | CA348707695 | ZEB2 | c.*2478A>C (n.*2478A>C) c.1852A>C (p.Asn618His) c.2629A>C (p.Asn877His) n.2598A>C c.2293A>C (p.Asn765His) c.2704A>C (p.Asn902His) c.*2346A>C (n.*2346A>C) n.2729A>C c.160A>C (p.Asn54His) c.2626A>C (p.Asn876His) c.655+2641A>C (n.655+2641A>C) c.1168-630A>C (n.1168-630A>C) c.2557A>C (p.Asn853His) c.2620A>C (p.Asn874His) c.2608A>C (p.Asn870His) | |
2 | g.144398559del | CA2580063841 | ZEB2 | c.*2477del (n.*2477del) c.1851del (p.Asp617GlufsTer11) c.2628del (p.Asp876GlufsTer11) n.2597del c.2292del (p.Asp764GlufsTer11) c.2703del (p.Asp901GlufsTer11) c.*2345del (n.*2345del) n.2728del c.159del (p.Asp53GlufsTer11) c.2625del (p.Asp875GlufsTer11) c.655+2640del (n.655+2640del) c.1168-631del (n.1168-631del) c.2556del (p.Asp852GlufsTer11) c.2619del (p.Asp873GlufsTer11) c.2607del (p.Asp869GlufsTer11) | |
2 | g.144398559G>A | CA429445178 | ZEB2 | c.*2477C>T (n.*2477C>T) c.1851C>T (p.Asp617=) c.2628C>T (p.Asp876=) n.2597C>T c.2292C>T (p.Asp764=) c.2703C>T (p.Asp901=) c.*2345C>T (n.*2345C>T) n.2728C>T c.159C>T (p.Asp53=) c.2625C>T (p.Asp875=) c.655+2640C>T (n.655+2640C>T) c.1168-631C>T (n.1168-631C>T) c.2556C>T (p.Asp852=) c.2619C>T (p.Asp873=) c.2607C>T (p.Asp869=) | |
2 | g.144398559G>C | CA348707699 | ZEB2 | c.*2477C>G (n.*2477C>G) c.1851C>G (p.Asp617Glu) c.2628C>G (p.Asp876Glu) n.2597C>G c.2292C>G (p.Asp764Glu) c.2703C>G (p.Asp901Glu) c.*2345C>G (n.*2345C>G) n.2728C>G c.159C>G (p.Asp53Glu) c.2625C>G (p.Asp875Glu) c.655+2640C>G (n.655+2640C>G) c.1168-631C>G (n.1168-631C>G) c.2556C>G (p.Asp852Glu) c.2619C>G (p.Asp873Glu) c.2607C>G (p.Asp869Glu) | |
2 | g.144398559G>T | CA348707700 | ZEB2 | c.*2477C>A (n.*2477C>A) c.1851C>A (p.Asp617Glu) c.2628C>A (p.Asp876Glu) n.2597C>A c.2292C>A (p.Asp764Glu) c.2703C>A (p.Asp901Glu) c.*2345C>A (n.*2345C>A) n.2728C>A c.159C>A (p.Asp53Glu) c.2625C>A (p.Asp875Glu) c.655+2640C>A (n.655+2640C>A) c.1168-631C>A (n.1168-631C>A) c.2556C>A (p.Asp852Glu) c.2619C>A (p.Asp873Glu) c.2607C>A (p.Asp869Glu) | |
2 | g.144398560T>A | CA348707702 | ZEB2 | c.*2476A>T (n.*2476A>T) c.1850A>T (p.Asp617Val) c.2627A>T (p.Asp876Val) n.2596A>T c.2291A>T (p.Asp764Val) c.2702A>T (p.Asp901Val) c.*2344A>T (n.*2344A>T) n.2727A>T c.158A>T (p.Asp53Val) c.2624A>T (p.Asp875Val) c.655+2639A>T (n.655+2639A>T) c.1168-632A>T (n.1168-632A>T) c.2555A>T (p.Asp852Val) c.2618A>T (p.Asp873Val) c.2606A>T (p.Asp869Val) | gnomAD v4 |
2 | g.144398560T>C | CA1898226 | ZEB2 | c.*2476A>G (n.*2476A>G) c.1850A>G (p.Asp617Gly) c.2627A>G (p.Asp876Gly) n.2596A>G c.2291A>G (p.Asp764Gly) c.2702A>G (p.Asp901Gly) c.*2344A>G (n.*2344A>G) n.2727A>G c.158A>G (p.Asp53Gly) c.2624A>G (p.Asp875Gly) c.655+2639A>G (n.655+2639A>G) c.1168-632A>G (n.1168-632A>G) c.2555A>G (p.Asp852Gly) c.2618A>G (p.Asp873Gly) c.2606A>G (p.Asp869Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.144398560T>G | CA348707703 | ZEB2 | c.*2476A>C (n.*2476A>C) c.1850A>C (p.Asp617Ala) c.2627A>C (p.Asp876Ala) n.2596A>C c.2291A>C (p.Asp764Ala) c.2702A>C (p.Asp901Ala) c.*2344A>C (n.*2344A>C) n.2727A>C c.158A>C (p.Asp53Ala) c.2624A>C (p.Asp875Ala) c.655+2639A>C (n.655+2639A>C) c.1168-632A>C (n.1168-632A>C) c.2555A>C (p.Asp852Ala) c.2618A>C (p.Asp873Ala) c.2606A>C (p.Asp869Ala) | |
2 | g.144398560T= | CA1294884941 | ZEB2 | c.*2476A= (n.*2476A=) c.1850A= (p.Asp617=) c.2627A= (p.Asp876=) n.2596A= c.2291A= (p.Asp764=) c.2702A= (p.Asp901=) c.*2344A= (n.*2344A=) n.2727A= c.158A= (p.Asp53=) c.2624A= (p.Asp875=) c.655+2639A= (n.655+2639A=) c.1168-632A= (n.1168-632A=) c.2555A= (p.Asp852=) c.2618A= (p.Asp873=) c.2606A= (p.Asp869=) | |
2 | g.144398561C>A | CA348707705 | ZEB2 | c.*2475G>T (n.*2475G>T) c.1849G>T (p.Asp617Tyr) c.2626G>T (p.Asp876Tyr) n.2595G>T c.2290G>T (p.Asp764Tyr) c.2701G>T (p.Asp901Tyr) c.*2343G>T (n.*2343G>T) n.2726G>T c.157G>T (p.Asp53Tyr) c.2623G>T (p.Asp875Tyr) c.655+2638G>T (n.655+2638G>T) c.1168-633G>T (n.1168-633G>T) c.2554G>T (p.Asp852Tyr) c.2617G>T (p.Asp873Tyr) c.2605G>T (p.Asp869Tyr) | gnomAD v4 |
2 | g.144398561C>G | CA348707707 | ZEB2 | c.*2475G>C (n.*2475G>C) c.1849G>C (p.Asp617His) c.2626G>C (p.Asp876His) n.2595G>C c.2290G>C (p.Asp764His) c.2701G>C (p.Asp901His) c.*2343G>C (n.*2343G>C) n.2726G>C c.157G>C (p.Asp53His) c.2623G>C (p.Asp875His) c.655+2638G>C (n.655+2638G>C) c.1168-633G>C (n.1168-633G>C) c.2554G>C (p.Asp852His) c.2617G>C (p.Asp873His) c.2605G>C (p.Asp869His) | |
2 | g.144398561C>T | CA348707709 | ZEB2 | c.*2475G>A (n.*2475G>A) c.1849G>A (p.Asp617Asn) c.2626G>A (p.Asp876Asn) n.2595G>A c.2290G>A (p.Asp764Asn) c.2701G>A (p.Asp901Asn) c.*2343G>A (n.*2343G>A) n.2726G>A c.157G>A (p.Asp53Asn) c.2623G>A (p.Asp875Asn) c.655+2638G>A (n.655+2638G>A) c.1168-633G>A (n.1168-633G>A) c.2554G>A (p.Asp852Asn) c.2617G>A (p.Asp873Asn) c.2605G>A (p.Asp869Asn) | |
2 | g.144398562C>A | CA429445196 | ZEB2 | c.*2474G>T (n.*2474G>T) c.1848G>T (p.Leu616=) c.2625G>T (p.Leu875=) n.2594G>T c.2289G>T (p.Leu763=) c.2700G>T (p.Leu900=) c.*2342G>T (n.*2342G>T) n.2725G>T c.156G>T (p.Leu52=) c.2622G>T (p.Leu874=) c.655+2637G>T (n.655+2637G>T) c.1168-634G>T (n.1168-634G>T) c.2553G>T (p.Leu851=) c.2616G>T (p.Leu872=) c.2604G>T (p.Leu868=) | COSMIC |
2 | g.144398562C>G | CA429445194 | ZEB2 | c.*2474G>C (n.*2474G>C) c.1848G>C (p.Leu616=) c.2625G>C (p.Leu875=) n.2594G>C c.2289G>C (p.Leu763=) c.2700G>C (p.Leu900=) c.*2342G>C (n.*2342G>C) n.2725G>C c.156G>C (p.Leu52=) c.2622G>C (p.Leu874=) c.655+2637G>C (n.655+2637G>C) c.1168-634G>C (n.1168-634G>C) c.2553G>C (p.Leu851=) c.2616G>C (p.Leu872=) c.2604G>C (p.Leu868=) | |
2 | g.144398562C>T | CA429445191 | ZEB2 | c.*2474G>A (n.*2474G>A) c.1848G>A (p.Leu616=) c.2625G>A (p.Leu875=) n.2594G>A c.2289G>A (p.Leu763=) c.2700G>A (p.Leu900=) c.*2342G>A (n.*2342G>A) n.2725G>A c.156G>A (p.Leu52=) c.2622G>A (p.Leu874=) c.655+2637G>A (n.655+2637G>A) c.1168-634G>A (n.1168-634G>A) c.2553G>A (p.Leu851=) c.2616G>A (p.Leu872=) c.2604G>A (p.Leu868=) | |
2 | g.144398562_144398563del | CA2586970084 | ZEB2 | c.*2473_*2474del (n.*2473_*2474del) c.1847_1848del (p.Leu616ArgfsTer6) c.2624_2625del (p.Leu875ArgfsTer6) n.2593_2594del c.2288_2289del (p.Leu763ArgfsTer6) c.2699_2700del (p.Leu900ArgfsTer6) c.*2341_*2342del (n.*2341_*2342del) n.2724_2725del c.155_156del (p.Leu52ArgfsTer6) c.2621_2622del (p.Leu874ArgfsTer6) c.655+2636_655+2637del (n.655+2636_655+2637del) c.1168-635_1168-634del (n.1168-635_1168-634del) c.2552_2553del (p.Leu851ArgfsTer6) c.2615_2616del (p.Leu872ArgfsTer6) c.2603_2604del (p.Leu868ArgfsTer6) | |
2 | g.144398563A= | CA1294884942 | ZEB2 | c.*2473T= (n.*2473T=) c.1847T= (p.Leu616=) c.2624T= (p.Leu875=) n.2593T= c.2288T= (p.Leu763=) c.2699T= (p.Leu900=) c.*2341T= (n.*2341T=) n.2724T= c.155T= (p.Leu52=) c.2621T= (p.Leu874=) c.655+2636T= (n.655+2636T=) c.1168-635T= (n.1168-635T=) c.2552T= (p.Leu851=) c.2615T= (p.Leu872=) c.2603T= (p.Leu868=) | |
2 | g.144398563A>C | CA297611 | ZEB2 | c.*2473T>G (n.*2473T>G) c.1847T>G (p.Leu616Arg) c.2624T>G (p.Leu875Arg) n.2593T>G c.2288T>G (p.Leu763Arg) c.2699T>G (p.Leu900Arg) c.*2341T>G (n.*2341T>G) n.2724T>G c.155T>G (p.Leu52Arg) c.2621T>G (p.Leu874Arg) c.655+2636T>G (n.655+2636T>G) c.1168-635T>G (n.1168-635T>G) c.2552T>G (p.Leu851Arg) c.2615T>G (p.Leu872Arg) c.2603T>G (p.Leu868Arg) | ClinVar dbSNP |
2 | g.144398563A>G | CA348707712 | ZEB2 | c.*2473T>C (n.*2473T>C) c.1847T>C (p.Leu616Pro) c.2624T>C (p.Leu875Pro) n.2593T>C c.2288T>C (p.Leu763Pro) c.2699T>C (p.Leu900Pro) c.*2341T>C (n.*2341T>C) n.2724T>C c.155T>C (p.Leu52Pro) c.2621T>C (p.Leu874Pro) c.655+2636T>C (n.655+2636T>C) c.1168-635T>C (n.1168-635T>C) c.2552T>C (p.Leu851Pro) c.2615T>C (p.Leu872Pro) c.2603T>C (p.Leu868Pro) | |
2 | g.144398563A>T | CA348707714 | ZEB2 | c.*2473T>A (n.*2473T>A) c.1847T>A (p.Leu616Gln) c.2624T>A (p.Leu875Gln) n.2593T>A c.2288T>A (p.Leu763Gln) c.2699T>A (p.Leu900Gln) c.*2341T>A (n.*2341T>A) n.2724T>A c.155T>A (p.Leu52Gln) c.2621T>A (p.Leu874Gln) c.655+2636T>A (n.655+2636T>A) c.1168-635T>A (n.1168-635T>A) c.2552T>A (p.Leu851Gln) c.2615T>A (p.Leu872Gln) c.2603T>A (p.Leu868Gln) | |
2 | g.144398564G>A | CA429445202 | ZEB2 | c.*2472C>T (n.*2472C>T) c.1846C>T (p.Leu616=) c.2623C>T (p.Leu875=) n.2592C>T c.2287C>T (p.Leu763=) c.2698C>T (p.Leu900=) c.*2340C>T (n.*2340C>T) n.2723C>T c.154C>T (p.Leu52=) c.2620C>T (p.Leu874=) c.655+2635C>T (n.655+2635C>T) c.1168-636C>T (n.1168-636C>T) c.2551C>T (p.Leu851=) c.2614C>T (p.Leu872=) c.2602C>T (p.Leu868=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.144398564G>C | CA348707716 | ZEB2 | c.*2472C>G (n.*2472C>G) c.1846C>G (p.Leu616Val) c.2623C>G (p.Leu875Val) n.2592C>G c.2287C>G (p.Leu763Val) c.2698C>G (p.Leu900Val) c.*2340C>G (n.*2340C>G) n.2723C>G c.154C>G (p.Leu52Val) c.2620C>G (p.Leu874Val) c.655+2635C>G (n.655+2635C>G) c.1168-636C>G (n.1168-636C>G) c.2551C>G (p.Leu851Val) c.2614C>G (p.Leu872Val) c.2602C>G (p.Leu868Val) | |
2 | g.144398564G= | CA1294884943 | ZEB2 | c.*2472C= (n.*2472C=) c.1846C= (p.Leu616=) c.2623C= (p.Leu875=) n.2592C= c.2287C= (p.Leu763=) c.2698C= (p.Leu900=) c.*2340C= (n.*2340C=) n.2723C= c.154C= (p.Leu52=) c.2620C= (p.Leu874=) c.655+2635C= (n.655+2635C=) c.1168-636C= (n.1168-636C=) c.2551C= (p.Leu851=) c.2614C= (p.Leu872=) c.2602C= (p.Leu868=) | |
2 | g.144398564G>T | CA348707718 | ZEB2 | c.*2472C>A (n.*2472C>A) c.1846C>A (p.Leu616Met) c.2623C>A (p.Leu875Met) n.2592C>A c.2287C>A (p.Leu763Met) c.2698C>A (p.Leu900Met) c.*2340C>A (n.*2340C>A) n.2723C>A c.154C>A (p.Leu52Met) c.2620C>A (p.Leu874Met) c.655+2635C>A (n.655+2635C>A) c.1168-636C>A (n.1168-636C>A) c.2551C>A (p.Leu851Met) c.2614C>A (p.Leu872Met) c.2602C>A (p.Leu868Met) | |
2 | g.144398565A= | CA1294884944 | ZEB2 | c.*2471T= (n.*2471T=) c.1845T= (p.Asn615=) c.2622T= (p.Asn874=) n.2591T= c.2286T= (p.Asn762=) c.2697T= (p.Asn899=) c.*2339T= (n.*2339T=) n.2722T= c.153T= (p.Asn51=) c.2619T= (p.Asn873=) c.655+2634T= (n.655+2634T=) c.1168-637T= (n.1168-637T=) c.2550T= (p.Asn850=) c.2613T= (p.Asn871=) c.2601T= (p.Asn867=) | |
2 | g.144398565A>C | CA348707720 | ZEB2 | c.*2471T>G (n.*2471T>G) c.1845T>G (p.Asn615Lys) c.2622T>G (p.Asn874Lys) n.2591T>G c.2286T>G (p.Asn762Lys) c.2697T>G (p.Asn899Lys) c.*2339T>G (n.*2339T>G) n.2722T>G c.153T>G (p.Asn51Lys) c.2619T>G (p.Asn873Lys) c.655+2634T>G (n.655+2634T>G) c.1168-637T>G (n.1168-637T>G) c.2550T>G (p.Asn850Lys) c.2613T>G (p.Asn871Lys) c.2601T>G (p.Asn867Lys) | gnomAD v4 |
2 | g.144398565A>G | CA429445206 | ZEB2 | c.*2471T>C (n.*2471T>C) c.1845T>C (p.Asn615=) c.2622T>C (p.Asn874=) n.2591T>C c.2286T>C (p.Asn762=) c.2697T>C (p.Asn899=) c.*2339T>C (n.*2339T>C) n.2722T>C c.153T>C (p.Asn51=) c.2619T>C (p.Asn873=) c.655+2634T>C (n.655+2634T>C) c.1168-637T>C (n.1168-637T>C) c.2550T>C (p.Asn850=) c.2613T>C (p.Asn871=) c.2601T>C (p.Asn867=) | ClinVar dbSNP |
2 | g.144398565A>T | CA1898227 | ZEB2 | c.*2471T>A (n.*2471T>A) c.1845T>A (p.Asn615Lys) c.2622T>A (p.Asn874Lys) n.2591T>A c.2286T>A (p.Asn762Lys) c.2697T>A (p.Asn899Lys) c.*2339T>A (n.*2339T>A) n.2722T>A c.153T>A (p.Asn51Lys) c.2619T>A (p.Asn873Lys) c.655+2634T>A (n.655+2634T>A) c.1168-637T>A (n.1168-637T>A) c.2550T>A (p.Asn850Lys) c.2613T>A (p.Asn871Lys) c.2601T>A (p.Asn867Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.144398566T>A | CA348707724 | ZEB2 | c.*2470A>T (n.*2470A>T) c.1844A>T (p.Asn615Ile) c.2621A>T (p.Asn874Ile) n.2590A>T c.2285A>T (p.Asn762Ile) c.2696A>T (p.Asn899Ile) c.*2338A>T (n.*2338A>T) n.2721A>T c.152A>T (p.Asn51Ile) c.2618A>T (p.Asn873Ile) c.655+2633A>T (n.655+2633A>T) c.1168-638A>T (n.1168-638A>T) c.2549A>T (p.Asn850Ile) c.2612A>T (p.Asn871Ile) c.2600A>T (p.Asn867Ile) | gnomAD v4 |
2 | g.144398566T>C | CA348707725 | ZEB2 | c.*2470A>G (n.*2470A>G) c.1844A>G (p.Asn615Ser) c.2621A>G (p.Asn874Ser) n.2590A>G c.2285A>G (p.Asn762Ser) c.2696A>G (p.Asn899Ser) c.*2338A>G (n.*2338A>G) n.2721A>G c.152A>G (p.Asn51Ser) c.2618A>G (p.Asn873Ser) c.655+2633A>G (n.655+2633A>G) c.1168-638A>G (n.1168-638A>G) c.2549A>G (p.Asn850Ser) c.2612A>G (p.Asn871Ser) c.2600A>G (p.Asn867Ser) | |
2 | g.144398566T>G | CA348707727 | ZEB2 | c.*2470A>C (n.*2470A>C) c.1844A>C (p.Asn615Thr) c.2621A>C (p.Asn874Thr) n.2590A>C c.2285A>C (p.Asn762Thr) c.2696A>C (p.Asn899Thr) c.*2338A>C (n.*2338A>C) n.2721A>C c.152A>C (p.Asn51Thr) c.2618A>C (p.Asn873Thr) c.655+2633A>C (n.655+2633A>C) c.1168-638A>C (n.1168-638A>C) c.2549A>C (p.Asn850Thr) c.2612A>C (p.Asn871Thr) c.2600A>C (p.Asn867Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.144398566T= | CA1294884945 | ZEB2 | c.*2470A= (n.*2470A=) c.1844A= (p.Asn615=) c.2621A= (p.Asn874=) n.2590A= c.2285A= (p.Asn762=) c.2696A= (p.Asn899=) c.*2338A= (n.*2338A=) n.2721A= c.152A= (p.Asn51=) c.2618A= (p.Asn873=) c.655+2633A= (n.655+2633A=) c.1168-638A= (n.1168-638A=) c.2549A= (p.Asn850=) c.2612A= (p.Asn871=) c.2600A= (p.Asn867=) | |
2 | g.144398567del | CA2586970085 | ZEB2 | c.*2470del (n.*2470del) c.1844del (p.Asn615IlefsTer13) c.2621del (p.Asn874IlefsTer13) n.2590del c.2285del (p.Asn762IlefsTer13) c.2696del (p.Asn899IlefsTer13) c.*2338del (n.*2338del) n.2721del c.152del (p.Asn51IlefsTer13) c.2618del (p.Asn873IlefsTer13) c.655+2633del (n.655+2633del) c.1168-638del (n.1168-638del) c.2549del (p.Asn850IlefsTer13) c.2612del (p.Asn871IlefsTer13) c.2600del (p.Asn867IlefsTer13) | |
2 | g.144398567T>A | CA1898228 | ZEB2 | c.*2469A>T (n.*2469A>T) c.1843A>T (p.Asn615Tyr) c.2620A>T (p.Asn874Tyr) n.2589A>T c.2284A>T (p.Asn762Tyr) c.2695A>T (p.Asn899Tyr) c.*2337A>T (n.*2337A>T) n.2720A>T c.151A>T (p.Asn51Tyr) c.2617A>T (p.Asn873Tyr) c.655+2632A>T (n.655+2632A>T) c.1168-639A>T (n.1168-639A>T) c.2548A>T (p.Asn850Tyr) c.2611A>T (p.Asn871Tyr) c.2599A>T (p.Asn867Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.144398567T>C | CA348707729 | ZEB2 | c.*2469A>G (n.*2469A>G) c.1843A>G (p.Asn615Asp) c.2620A>G (p.Asn874Asp) n.2589A>G c.2284A>G (p.Asn762Asp) c.2695A>G (p.Asn899Asp) c.*2337A>G (n.*2337A>G) n.2720A>G c.151A>G (p.Asn51Asp) c.2617A>G (p.Asn873Asp) c.655+2632A>G (n.655+2632A>G) c.1168-639A>G (n.1168-639A>G) c.2548A>G (p.Asn850Asp) c.2611A>G (p.Asn871Asp) c.2599A>G (p.Asn867Asp) | |
2 | g.144398567T>G | CA348707730 | ZEB2 | c.*2469A>C (n.*2469A>C) c.1843A>C (p.Asn615His) c.2620A>C (p.Asn874His) n.2589A>C c.2284A>C (p.Asn762His) c.2695A>C (p.Asn899His) c.*2337A>C (n.*2337A>C) n.2720A>C c.151A>C (p.Asn51His) c.2617A>C (p.Asn873His) c.655+2632A>C (n.655+2632A>C) c.1168-639A>C (n.1168-639A>C) c.2548A>C (p.Asn850His) c.2611A>C (p.Asn871His) c.2599A>C (p.Asn867His) | |
2 | g.144398567T= | CA1294884947 | ZEB2 | c.*2469A= (n.*2469A=) c.1843A= (p.Asn615=) c.2620A= (p.Asn874=) n.2589A= c.2284A= (p.Asn762=) c.2695A= (p.Asn899=) c.*2337A= (n.*2337A=) n.2720A= c.151A= (p.Asn51=) c.2617A= (p.Asn873=) c.655+2632A= (n.655+2632A=) c.1168-639A= (n.1168-639A=) c.2548A= (p.Asn850=) c.2611A= (p.Asn871=) c.2599A= (p.Asn867=) | |
2 | g.144398567_144398568delinsAT | CA916082204 | ZEB2 | c.*2468_*2469delinsAT (n.*2468_*2469delinsAT) c.1842_1843delinsAT (p.Asn614_Asn615delinsLysTyr) c.2619_2620delinsAT (p.Asn873_Asn874delinsLysTyr) n.2588_2589delinsAT c.2283_2284delinsAT (p.Asn761_Asn762delinsLysTyr) c.2694_2695delinsAT (p.Asn898_Asn899delinsLysTyr) c.*2336_*2337delinsAT (n.*2336_*2337delinsAT) n.2719_2720delinsAT c.150_151delinsAT (p.Asn50_Asn51delinsLysTyr) c.2616_2617delinsAT (p.Asn872_Asn873delinsLysTyr) c.655+2631_655+2632delinsAT (n.655+2631_655+2632delinsAT) c.1168-640_1168-639delinsAT (n.1168-640_1168-639delinsAT) c.2547_2548delinsAT (p.Asn849_Asn850delinsLysTyr) c.2610_2611delinsAT (p.Asn870_Asn871delinsLysTyr) c.2598_2599delinsAT (p.Asn866_Asn867delinsLysTyr) | ClinVar dbSNP |
2 | g.144398567_144398568delinsTA | CA1294884946 | ZEB2 | c.*2468_*2469delinsTA (n.*2468_*2469delinsTA) c.1842_1843delinsTA (p.Asn614=) c.2619_2620delinsTA (p.Asn873=) n.2588_2589delinsTA c.2283_2284delinsTA (p.Asn761=) c.2694_2695delinsTA (p.Asn898=) c.*2336_*2337delinsTA (n.*2336_*2337delinsTA) n.2719_2720delinsTA c.150_151delinsTA (p.Asn50=) c.2616_2617delinsTA (p.Asn872=) c.655+2631_655+2632delinsTA (n.655+2631_655+2632delinsTA) c.1168-640_1168-639delinsTA (n.1168-640_1168-639delinsTA) c.2547_2548delinsTA (p.Asn849=) c.2610_2611delinsTA (p.Asn870=) c.2598_2599delinsTA (p.Asn866=) | |
2 | g.144398568A= | CA1294884948 | ZEB2 | c.*2468T= (n.*2468T=) c.1842T= (p.Asn614=) c.2619T= (p.Asn873=) n.2588T= c.2283T= (p.Asn761=) c.2694T= (p.Asn898=) c.*2336T= (n.*2336T=) n.2719T= c.150T= (p.Asn50=) c.2616T= (p.Asn872=) c.655+2631T= (n.655+2631T=) c.1168-640T= (n.1168-640T=) c.2547T= (p.Asn849=) c.2610T= (p.Asn870=) c.2598T= (p.Asn866=) | |
2 | g.144398568A>C | CA348707733 | ZEB2 | c.*2468T>G (n.*2468T>G) c.1842T>G (p.Asn614Lys) c.2619T>G (p.Asn873Lys) n.2588T>G c.2283T>G (p.Asn761Lys) c.2694T>G (p.Asn898Lys) c.*2336T>G (n.*2336T>G) n.2719T>G c.150T>G (p.Asn50Lys) c.2616T>G (p.Asn872Lys) c.655+2631T>G (n.655+2631T>G) c.1168-640T>G (n.1168-640T>G) c.2547T>G (p.Asn849Lys) c.2610T>G (p.Asn870Lys) c.2598T>G (p.Asn866Lys) | |
2 | g.144398568A>G | CA429445214 | ZEB2 | c.*2468T>C (n.*2468T>C) c.1842T>C (p.Asn614=) c.2619T>C (p.Asn873=) n.2588T>C c.2283T>C (p.Asn761=) c.2694T>C (p.Asn898=) c.*2336T>C (n.*2336T>C) n.2719T>C c.150T>C (p.Asn50=) c.2616T>C (p.Asn872=) c.655+2631T>C (n.655+2631T>C) c.1168-640T>C (n.1168-640T>C) c.2547T>C (p.Asn849=) c.2610T>C (p.Asn870=) c.2598T>C (p.Asn866=) | |
2 | g.144398568A>T | CA1898229 | ZEB2 | c.*2468T>A (n.*2468T>A) c.1842T>A (p.Asn614Lys) c.2619T>A (p.Asn873Lys) n.2588T>A c.2283T>A (p.Asn761Lys) c.2694T>A (p.Asn898Lys) c.*2336T>A (n.*2336T>A) n.2719T>A c.150T>A (p.Asn50Lys) c.2616T>A (p.Asn872Lys) c.655+2631T>A (n.655+2631T>A) c.1168-640T>A (n.1168-640T>A) c.2547T>A (p.Asn849Lys) c.2610T>A (p.Asn870Lys) c.2598T>A (p.Asn866Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.144398569T>A | CA348707736 | ZEB2 | c.*2467A>T (n.*2467A>T) c.1841A>T (p.Asn614Ile) c.2618A>T (p.Asn873Ile) n.2587A>T c.2282A>T (p.Asn761Ile) c.2693A>T (p.Asn898Ile) c.*2335A>T (n.*2335A>T) n.2718A>T c.149A>T (p.Asn50Ile) c.2615A>T (p.Asn872Ile) c.655+2630A>T (n.655+2630A>T) c.1168-641A>T (n.1168-641A>T) c.2546A>T (p.Asn849Ile) c.2609A>T (p.Asn870Ile) c.2597A>T (p.Asn866Ile) | |
2 | g.144398569T>C | CA348707738 | ZEB2 | c.*2467A>G (n.*2467A>G) c.1841A>G (p.Asn614Ser) c.2618A>G (p.Asn873Ser) n.2587A>G c.2282A>G (p.Asn761Ser) c.2693A>G (p.Asn898Ser) c.*2335A>G (n.*2335A>G) n.2718A>G c.149A>G (p.Asn50Ser) c.2615A>G (p.Asn872Ser) c.655+2630A>G (n.655+2630A>G) c.1168-641A>G (n.1168-641A>G) c.2546A>G (p.Asn849Ser) c.2609A>G (p.Asn870Ser) c.2597A>G (p.Asn866Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.144398569T>G | CA348707740 | ZEB2 | c.*2467A>C (n.*2467A>C) c.1841A>C (p.Asn614Thr) c.2618A>C (p.Asn873Thr) n.2587A>C c.2282A>C (p.Asn761Thr) c.2693A>C (p.Asn898Thr) c.*2335A>C (n.*2335A>C) n.2718A>C c.149A>C (p.Asn50Thr) c.2615A>C (p.Asn872Thr) c.655+2630A>C (n.655+2630A>C) c.1168-641A>C (n.1168-641A>C) c.2546A>C (p.Asn849Thr) c.2609A>C (p.Asn870Thr) c.2597A>C (p.Asn866Thr) | |
2 | g.144398569T= | CA1294884949 | ZEB2 | c.*2467A= (n.*2467A=) c.1841A= (p.Asn614=) c.2618A= (p.Asn873=) n.2587A= c.2282A= (p.Asn761=) c.2693A= (p.Asn898=) c.*2335A= (n.*2335A=) n.2718A= c.149A= (p.Asn50=) c.2615A= (p.Asn872=) c.655+2630A= (n.655+2630A=) c.1168-641A= (n.1168-641A=) c.2546A= (p.Asn849=) c.2609A= (p.Asn870=) c.2597A= (p.Asn866=) | |
2 | g.144398570T>A | CA348707746 | ZEB2 | c.*2466A>T (n.*2466A>T) c.1840A>T (p.Asn614Tyr) c.2617A>T (p.Asn873Tyr) n.2586A>T c.2281A>T (p.Asn761Tyr) c.2692A>T (p.Asn898Tyr) c.*2334A>T (n.*2334A>T) n.2717A>T c.148A>T (p.Asn50Tyr) c.2614A>T (p.Asn872Tyr) c.655+2629A>T (n.655+2629A>T) c.1168-642A>T (n.1168-642A>T) c.2545A>T (p.Asn849Tyr) c.2608A>T (p.Asn870Tyr) c.2596A>T (p.Asn866Tyr) | |
2 | g.144398570T>C | CA348707742 | ZEB2 | c.*2466A>G (n.*2466A>G) c.1840A>G (p.Asn614Asp) c.2617A>G (p.Asn873Asp) n.2586A>G c.2281A>G (p.Asn761Asp) c.2692A>G (p.Asn898Asp) c.*2334A>G (n.*2334A>G) n.2717A>G c.148A>G (p.Asn50Asp) c.2614A>G (p.Asn872Asp) c.655+2629A>G (n.655+2629A>G) c.1168-642A>G (n.1168-642A>G) c.2545A>G (p.Asn849Asp) c.2608A>G (p.Asn870Asp) c.2596A>G (p.Asn866Asp) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.144398570T>G | CA348707744 | ZEB2 | c.*2466A>C (n.*2466A>C) c.1840A>C (p.Asn614His) c.2617A>C (p.Asn873His) n.2586A>C c.2281A>C (p.Asn761His) c.2692A>C (p.Asn898His) c.*2334A>C (n.*2334A>C) n.2717A>C c.148A>C (p.Asn50His) c.2614A>C (p.Asn872His) c.655+2629A>C (n.655+2629A>C) c.1168-642A>C (n.1168-642A>C) c.2545A>C (p.Asn849His) c.2608A>C (p.Asn870His) c.2596A>C (p.Asn866His) | |
2 | g.144398570T= | CA1294884950 | ZEB2 | c.*2466A= (n.*2466A=) c.1840A= (p.Asn614=) c.2617A= (p.Asn873=) n.2586A= c.2281A= (p.Asn761=) c.2692A= (p.Asn898=) c.*2334A= (n.*2334A=) n.2717A= c.148A= (p.Asn50=) c.2614A= (p.Asn872=) c.655+2629A= (n.655+2629A=) c.1168-642A= (n.1168-642A=) c.2545A= (p.Asn849=) c.2608A= (p.Asn870=) c.2596A= (p.Asn866=) | |
2 | g.144398571T>A | CA429445226 | ZEB2 | c.*2465A>T (n.*2465A>T) c.1839A>T (p.Ser613=) c.2616A>T (p.Ser872=) n.2585A>T c.2280A>T (p.Ser760=) c.2691A>T (p.Ser897=) c.*2333A>T (n.*2333A>T) n.2716A>T c.147A>T (p.Ser49=) c.2613A>T (p.Ser871=) c.655+2628A>T (n.655+2628A>T) c.1168-643A>T (n.1168-643A>T) c.2544A>T (p.Ser848=) c.2607A>T (p.Ser869=) c.2595A>T (p.Ser865=) | |
2 | g.144398571T>C | CA429445227 | ZEB2 | c.*2465A>G (n.*2465A>G) c.1839A>G (p.Ser613=) c.2616A>G (p.Ser872=) n.2585A>G c.2280A>G (p.Ser760=) c.2691A>G (p.Ser897=) c.*2333A>G (n.*2333A>G) n.2716A>G c.147A>G (p.Ser49=) c.2613A>G (p.Ser871=) c.655+2628A>G (n.655+2628A>G) c.1168-643A>G (n.1168-643A>G) c.2544A>G (p.Ser848=) c.2607A>G (p.Ser869=) c.2595A>G (p.Ser865=) | gnomAD v4 |
2 | g.144398571T>G | CA429445228 | ZEB2 | c.*2465A>C (n.*2465A>C) c.1839A>C (p.Ser613=) c.2616A>C (p.Ser872=) n.2585A>C c.2280A>C (p.Ser760=) c.2691A>C (p.Ser897=) c.*2333A>C (n.*2333A>C) n.2716A>C c.147A>C (p.Ser49=) c.2613A>C (p.Ser871=) c.655+2628A>C (n.655+2628A>C) c.1168-643A>C (n.1168-643A>C) c.2544A>C (p.Ser848=) c.2607A>C (p.Ser869=) c.2595A>C (p.Ser865=) | |
2 | g.144398571T= | CA1294884951 | ZEB2 | c.*2465A= (n.*2465A=) c.1839A= (p.Ser613=) c.2616A= (p.Ser872=) n.2585A= c.2280A= (p.Ser760=) c.2691A= (p.Ser897=) c.*2333A= (n.*2333A=) n.2716A= c.147A= (p.Ser49=) c.2613A= (p.Ser871=) c.655+2628A= (n.655+2628A=) c.1168-643A= (n.1168-643A=) c.2544A= (p.Ser848=) c.2607A= (p.Ser869=) c.2595A= (p.Ser865=) | |
2 | g.144398571_144398572insTGATTATGTGCATGTAG | CA1294884953 | ZEB2 | c.*2464_*2465insCTACATGCACATAATCA (n.*2464_*2465insCTACATGCACATAATCA) c.1838_1839insCTACATGCACATAATCA (p.Asn614TyrfsTer20) c.2615_2616insCTACATGCACATAATCA (p.Asn873TyrfsTer20) n.2584_2585insCTACATGCACATAATCA c.2279_2280insCTACATGCACATAATCA (p.Asn761TyrfsTer20) c.2690_2691insCTACATGCACATAATCA (p.Asn898TyrfsTer20) c.*2332_*2333insCTACATGCACATAATCA (n.*2332_*2333insCTACATGCACATAATCA) n.2715_2716insCTACATGCACATAATCA c.146_147insCTACATGCACATAATCA (p.Asn50TyrfsTer20) c.2612_2613insCTACATGCACATAATCA (p.Asn872TyrfsTer20) c.655+2627_655+2628insCTACATGCACATAATCA (n.655+2627_655+2628insCTACATGCACATAATCA) c.1168-644_1168-643insCTACATGCACATAATCA (n.1168-644_1168-643insCTACATGCACATAATCA) c.2543_2544insCTACATGCACATAATCA (p.Asn849TyrfsTer20) c.2606_2607insCTACATGCACATAATCA (p.Asn870TyrfsTer20) c.2594_2595insCTACATGCACATAATCA (p.Asn866TyrfsTer20) | dbSNP |
2 | g.144398572G>A | CA348707748 | ZEB2 | c.*2464C>T (n.*2464C>T) c.1838C>T (p.Ser613Leu) c.2615C>T (p.Ser872Leu) n.2584C>T c.2279C>T (p.Ser760Leu) c.2690C>T (p.Ser897Leu) c.*2332C>T (n.*2332C>T) n.2715C>T c.146C>T (p.Ser49Leu) c.2612C>T (p.Ser871Leu) c.655+2627C>T (n.655+2627C>T) c.1168-644C>T (n.1168-644C>T) c.2543C>T (p.Ser848Leu) c.2606C>T (p.Ser869Leu) c.2594C>T (p.Ser865Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.144398572G>C | CA348707749 | ZEB2 | c.*2464C>G (n.*2464C>G) c.1838C>G (p.Ser613Ter) c.2615C>G (p.Ser872Ter) n.2584C>G c.2279C>G (p.Ser760Ter) c.2690C>G (p.Ser897Ter) c.*2332C>G (n.*2332C>G) n.2715C>G c.146C>G (p.Ser49Ter) c.2612C>G (p.Ser871Ter) c.655+2627C>G (n.655+2627C>G) c.1168-644C>G (n.1168-644C>G) c.2543C>G (p.Ser848Ter) c.2606C>G (p.Ser869Ter) c.2594C>G (p.Ser865Ter) | |
2 | g.144398572G= | CA1294884952 | ZEB2 | c.*2464C= (n.*2464C=) c.1838C= (p.Ser613=) c.2615C= (p.Ser872=) n.2584C= c.2279C= (p.Ser760=) c.2690C= (p.Ser897=) c.*2332C= (n.*2332C=) n.2715C= c.146C= (p.Ser49=) c.2612C= (p.Ser871=) c.655+2627C= (n.655+2627C=) c.1168-644C= (n.1168-644C=) c.2543C= (p.Ser848=) c.2606C= (p.Ser869=) c.2594C= (p.Ser865=) | |
2 | g.144398572G>T | CA348707751 | ZEB2 | c.*2464C>A (n.*2464C>A) c.1838C>A (p.Ser613Ter) c.2615C>A (p.Ser872Ter) n.2584C>A c.2279C>A (p.Ser760Ter) c.2690C>A (p.Ser897Ter) c.*2332C>A (n.*2332C>A) n.2715C>A c.146C>A (p.Ser49Ter) c.2612C>A (p.Ser871Ter) c.655+2627C>A (n.655+2627C>A) c.1168-644C>A (n.1168-644C>A) c.2543C>A (p.Ser848Ter) c.2606C>A (p.Ser869Ter) c.2594C>A (p.Ser865Ter) | |
2 | g.144398573A>C | CA348707753 | ZEB2 | c.*2463T>G (n.*2463T>G) c.1837T>G (p.Ser613Ala) c.2614T>G (p.Ser872Ala) n.2583T>G c.2278T>G (p.Ser760Ala) c.2689T>G (p.Ser897Ala) c.*2331T>G (n.*2331T>G) n.2714T>G c.145T>G (p.Ser49Ala) c.2611T>G (p.Ser871Ala) c.655+2626T>G (n.655+2626T>G) c.1168-645T>G (n.1168-645T>G) c.2542T>G (p.Ser848Ala) c.2605T>G (p.Ser869Ala) c.2593T>G (p.Ser865Ala) | |
2 | g.144398573A>G | CA348707754 | ZEB2 | c.*2463T>C (n.*2463T>C) c.1837T>C (p.Ser613Pro) c.2614T>C (p.Ser872Pro) n.2583T>C c.2278T>C (p.Ser760Pro) c.2689T>C (p.Ser897Pro) c.*2331T>C (n.*2331T>C) n.2714T>C c.145T>C (p.Ser49Pro) c.2611T>C (p.Ser871Pro) c.655+2626T>C (n.655+2626T>C) c.1168-645T>C (n.1168-645T>C) c.2542T>C (p.Ser848Pro) c.2605T>C (p.Ser869Pro) c.2593T>C (p.Ser865Pro) | |
2 | g.144398573A>T | CA348707756 | ZEB2 | c.*2463T>A (n.*2463T>A) c.1837T>A (p.Ser613Thr) c.2614T>A (p.Ser872Thr) n.2583T>A c.2278T>A (p.Ser760Thr) c.2689T>A (p.Ser897Thr) c.*2331T>A (n.*2331T>A) n.2714T>A c.145T>A (p.Ser49Thr) c.2611T>A (p.Ser871Thr) c.655+2626T>A (n.655+2626T>A) c.1168-645T>A (n.1168-645T>A) c.2542T>A (p.Ser848Thr) c.2605T>A (p.Ser869Thr) c.2593T>A (p.Ser865Thr) | |
2 | g.144398574A= | CA1294884954 | ZEB2 | c.*2462T= (n.*2462T=) c.1836T= (p.Asn612=) c.2613T= (p.Asn871=) n.2582T= c.2277T= (p.Asn759=) c.2688T= (p.Asn896=) c.*2330T= (n.*2330T=) n.2713T= c.144T= (p.Asn48=) c.2610T= (p.Asn870=) c.655+2625T= (n.655+2625T=) c.1168-646T= (n.1168-646T=) c.2541T= (p.Asn847=) c.2604T= (p.Asn868=) c.2592T= (p.Asn864=) | |
2 | g.144398574A>C | CA1898230 | ZEB2 | c.*2462T>G (n.*2462T>G) c.1836T>G (p.Asn612Lys) c.2613T>G (p.Asn871Lys) n.2582T>G c.2277T>G (p.Asn759Lys) c.2688T>G (p.Asn896Lys) c.*2330T>G (n.*2330T>G) n.2713T>G c.144T>G (p.Asn48Lys) c.2610T>G (p.Asn870Lys) c.655+2625T>G (n.655+2625T>G) c.1168-646T>G (n.1168-646T>G) c.2541T>G (p.Asn847Lys) c.2604T>G (p.Asn868Lys) c.2592T>G (p.Asn864Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.144398574A>G | CA429445237 | ZEB2 | c.*2462T>C (n.*2462T>C) c.1836T>C (p.Asn612=) c.2613T>C (p.Asn871=) n.2582T>C c.2277T>C (p.Asn759=) c.2688T>C (p.Asn896=) c.*2330T>C (n.*2330T>C) n.2713T>C c.144T>C (p.Asn48=) c.2610T>C (p.Asn870=) c.655+2625T>C (n.655+2625T>C) c.1168-646T>C (n.1168-646T>C) c.2541T>C (p.Asn847=) c.2604T>C (p.Asn868=) c.2592T>C (p.Asn864=) | |
2 | g.144398574A>T | CA348707759 | ZEB2 | c.*2462T>A (n.*2462T>A) c.1836T>A (p.Asn612Lys) c.2613T>A (p.Asn871Lys) n.2582T>A c.2277T>A (p.Asn759Lys) c.2688T>A (p.Asn896Lys) c.*2330T>A (n.*2330T>A) n.2713T>A c.144T>A (p.Asn48Lys) c.2610T>A (p.Asn870Lys) c.655+2625T>A (n.655+2625T>A) c.1168-646T>A (n.1168-646T>A) c.2541T>A (p.Asn847Lys) c.2604T>A (p.Asn868Lys) c.2592T>A (p.Asn864Lys) | |
2 | g.144398575T>A | CA348707760 | ZEB2 | c.*2461A>T (n.*2461A>T) c.1835A>T (p.Asn612Ile) c.2612A>T (p.Asn871Ile) n.2581A>T c.2276A>T (p.Asn759Ile) c.2687A>T (p.Asn896Ile) c.*2329A>T (n.*2329A>T) n.2712A>T c.143A>T (p.Asn48Ile) c.2609A>T (p.Asn870Ile) c.655+2624A>T (n.655+2624A>T) c.1168-647A>T (n.1168-647A>T) c.2540A>T (p.Asn847Ile) c.2603A>T (p.Asn868Ile) c.2591A>T (p.Asn864Ile) | |
2 | g.144398575T>C | CA348707761 | ZEB2 | c.*2461A>G (n.*2461A>G) c.1835A>G (p.Asn612Ser) c.2612A>G (p.Asn871Ser) n.2581A>G c.2276A>G (p.Asn759Ser) c.2687A>G (p.Asn896Ser) c.*2329A>G (n.*2329A>G) n.2712A>G c.143A>G (p.Asn48Ser) c.2609A>G (p.Asn870Ser) c.655+2624A>G (n.655+2624A>G) c.1168-647A>G (n.1168-647A>G) c.2540A>G (p.Asn847Ser) c.2603A>G (p.Asn868Ser) c.2591A>G (p.Asn864Ser) | gnomAD v4 |
2 | g.144398575T>G | CA348707763 | ZEB2 | c.*2461A>C (n.*2461A>C) c.1835A>C (p.Asn612Thr) c.2612A>C (p.Asn871Thr) n.2581A>C c.2276A>C (p.Asn759Thr) c.2687A>C (p.Asn896Thr) c.*2329A>C (n.*2329A>C) n.2712A>C c.143A>C (p.Asn48Thr) c.2609A>C (p.Asn870Thr) c.655+2624A>C (n.655+2624A>C) c.1168-647A>C (n.1168-647A>C) c.2540A>C (p.Asn847Thr) c.2603A>C (p.Asn868Thr) c.2591A>C (p.Asn864Thr) | |
2 | g.144398576T>A | CA348707766 | ZEB2 | c.*2460A>T (n.*2460A>T) c.1834A>T (p.Asn612Tyr) c.2611A>T (p.Asn871Tyr) n.2580A>T c.2275A>T (p.Asn759Tyr) c.2686A>T (p.Asn896Tyr) c.*2328A>T (n.*2328A>T) n.2711A>T c.142A>T (p.Asn48Tyr) c.2608A>T (p.Asn870Tyr) c.655+2623A>T (n.655+2623A>T) c.1168-648A>T (n.1168-648A>T) c.2539A>T (p.Asn847Tyr) c.2602A>T (p.Asn868Tyr) c.2590A>T (p.Asn864Tyr) | |
2 | g.144398576T>C | CA348707769 | ZEB2 | c.*2460A>G (n.*2460A>G) c.1834A>G (p.Asn612Asp) c.2611A>G (p.Asn871Asp) n.2580A>G c.2275A>G (p.Asn759Asp) c.2686A>G (p.Asn896Asp) c.*2328A>G (n.*2328A>G) n.2711A>G c.142A>G (p.Asn48Asp) c.2608A>G (p.Asn870Asp) c.655+2623A>G (n.655+2623A>G) c.1168-648A>G (n.1168-648A>G) c.2539A>G (p.Asn847Asp) c.2602A>G (p.Asn868Asp) c.2590A>G (p.Asn864Asp) | gnomAD v4 |
2 | g.144398576T>G | CA348707767 | ZEB2 | c.*2460A>C (n.*2460A>C) c.1834A>C (p.Asn612His) c.2611A>C (p.Asn871His) n.2580A>C c.2275A>C (p.Asn759His) c.2686A>C (p.Asn896His) c.*2328A>C (n.*2328A>C) n.2711A>C c.142A>C (p.Asn48His) c.2608A>C (p.Asn870His) c.655+2623A>C (n.655+2623A>C) c.1168-648A>C (n.1168-648A>C) c.2539A>C (p.Asn847His) c.2602A>C (p.Asn868His) c.2590A>C (p.Asn864His) | |
2 | g.144398577T>A | CA429445245 | ZEB2 | c.*2459A>T (n.*2459A>T) c.1833A>T (p.Ser611=) c.2610A>T (p.Ser870=) n.2579A>T c.2274A>T (p.Ser758=) c.2685A>T (p.Ser895=) c.*2327A>T (n.*2327A>T) n.2710A>T c.141A>T (p.Ser47=) c.2607A>T (p.Ser869=) c.655+2622A>T (n.655+2622A>T) c.1168-649A>T (n.1168-649A>T) c.2538A>T (p.Ser846=) c.2601A>T (p.Ser867=) c.2589A>T (p.Ser863=) | |
2 | g.144398577T>C | CA429445246 | ZEB2 | c.*2459A>G (n.*2459A>G) c.1833A>G (p.Ser611=) c.2610A>G (p.Ser870=) n.2579A>G c.2274A>G (p.Ser758=) c.2685A>G (p.Ser895=) c.*2327A>G (n.*2327A>G) n.2710A>G c.141A>G (p.Ser47=) c.2607A>G (p.Ser869=) c.655+2622A>G (n.655+2622A>G) c.1168-649A>G (n.1168-649A>G) c.2538A>G (p.Ser846=) c.2601A>G (p.Ser867=) c.2589A>G (p.Ser863=) | |
2 | g.144398577T>G | CA429445247 | ZEB2 | c.*2459A>C (n.*2459A>C) c.1833A>C (p.Ser611=) c.2610A>C (p.Ser870=) n.2579A>C c.2274A>C (p.Ser758=) c.2685A>C (p.Ser895=) c.*2327A>C (n.*2327A>C) n.2710A>C c.141A>C (p.Ser47=) c.2607A>C (p.Ser869=) c.655+2622A>C (n.655+2622A>C) c.1168-649A>C (n.1168-649A>C) c.2538A>C (p.Ser846=) c.2601A>C (p.Ser867=) c.2589A>C (p.Ser863=) | |
2 | g.144398578G>A | CA348707771 | ZEB2 | c.*2458C>T (n.*2458C>T) c.1832C>T (p.Ser611Leu) c.2609C>T (p.Ser870Leu) n.2578C>T c.2273C>T (p.Ser758Leu) c.2684C>T (p.Ser895Leu) c.*2326C>T (n.*2326C>T) n.2709C>T c.140C>T (p.Ser47Leu) c.2606C>T (p.Ser869Leu) c.655+2621C>T (n.655+2621C>T) c.1168-650C>T (n.1168-650C>T) c.2537C>T (p.Ser846Leu) c.2600C>T (p.Ser867Leu) c.2588C>T (p.Ser863Leu) | |
2 | g.144398578G>C | CA348707774 | ZEB2 | c.*2458C>G (n.*2458C>G) c.1832C>G (p.Ser611Ter) c.2609C>G (p.Ser870Ter) n.2578C>G c.2273C>G (p.Ser758Ter) c.2684C>G (p.Ser895Ter) c.*2326C>G (n.*2326C>G) n.2709C>G c.140C>G (p.Ser47Ter) c.2606C>G (p.Ser869Ter) c.655+2621C>G (n.655+2621C>G) c.1168-650C>G (n.1168-650C>G) c.2537C>G (p.Ser846Ter) c.2600C>G (p.Ser867Ter) c.2588C>G (p.Ser863Ter) | |
2 | g.144398578G= | CA1294884955 | ZEB2 | c.*2458C= (n.*2458C=) c.1832C= (p.Ser611=) c.2609C= (p.Ser870=) n.2578C= c.2273C= (p.Ser758=) c.2684C= (p.Ser895=) c.*2326C= (n.*2326C=) n.2709C= c.140C= (p.Ser47=) c.2606C= (p.Ser869=) c.655+2621C= (n.655+2621C=) c.1168-650C= (n.1168-650C=) c.2537C= (p.Ser846=) c.2600C= (p.Ser867=) c.2588C= (p.Ser863=) | |
2 | g.144398578G>T | CA348707772 | ZEB2 | c.*2458C>A (n.*2458C>A) c.1832C>A (p.Ser611Ter) c.2609C>A (p.Ser870Ter) n.2578C>A c.2273C>A (p.Ser758Ter) c.2684C>A (p.Ser895Ter) c.*2326C>A (n.*2326C>A) n.2709C>A c.140C>A (p.Ser47Ter) c.2606C>A (p.Ser869Ter) c.655+2621C>A (n.655+2621C>A) c.1168-650C>A (n.1168-650C>A) c.2537C>A (p.Ser846Ter) c.2600C>A (p.Ser867Ter) c.2588C>A (p.Ser863Ter) | ClinVar dbSNP |
2 | g.144398579A>C | CA348707776 | ZEB2 | c.*2457T>G (n.*2457T>G) c.1831T>G (p.Ser611Ala) c.2608T>G (p.Ser870Ala) n.2577T>G c.2272T>G (p.Ser758Ala) c.2683T>G (p.Ser895Ala) c.*2325T>G (n.*2325T>G) n.2708T>G c.139T>G (p.Ser47Ala) c.2605T>G (p.Ser869Ala) c.655+2620T>G (n.655+2620T>G) c.1168-651T>G (n.1168-651T>G) c.2536T>G (p.Ser846Ala) c.2599T>G (p.Ser867Ala) c.2587T>G (p.Ser863Ala) | |
2 | g.144398579A>G | CA348707779 | ZEB2 | c.*2457T>C (n.*2457T>C) c.1831T>C (p.Ser611Pro) c.2608T>C (p.Ser870Pro) n.2577T>C c.2272T>C (p.Ser758Pro) c.2683T>C (p.Ser895Pro) c.*2325T>C (n.*2325T>C) n.2708T>C c.139T>C (p.Ser47Pro) c.2605T>C (p.Ser869Pro) c.655+2620T>C (n.655+2620T>C) c.1168-651T>C (n.1168-651T>C) c.2536T>C (p.Ser846Pro) c.2599T>C (p.Ser867Pro) c.2587T>C (p.Ser863Pro) | |
2 | g.144398579A>T | CA348707777 | ZEB2 | c.*2457T>A (n.*2457T>A) c.1831T>A (p.Ser611Thr) c.2608T>A (p.Ser870Thr) n.2577T>A c.2272T>A (p.Ser758Thr) c.2683T>A (p.Ser895Thr) c.*2325T>A (n.*2325T>A) n.2708T>A c.139T>A (p.Ser47Thr) c.2605T>A (p.Ser869Thr) c.655+2620T>A (n.655+2620T>A) c.1168-651T>A (n.1168-651T>A) c.2536T>A (p.Ser846Thr) c.2599T>A (p.Ser867Thr) c.2587T>A (p.Ser863Thr) | |
2 | g.144398580A>C | CA348707781 | ZEB2 | c.*2456T>G (n.*2456T>G) c.1830T>G (p.Phe610Leu) c.2607T>G (p.Phe869Leu) n.2576T>G c.2271T>G (p.Phe757Leu) c.2682T>G (p.Phe894Leu) c.*2324T>G (n.*2324T>G) n.2707T>G c.138T>G (p.Phe46Leu) c.2604T>G (p.Phe868Leu) c.655+2619T>G (n.655+2619T>G) c.1168-652T>G (n.1168-652T>G) c.2535T>G (p.Phe845Leu) c.2598T>G (p.Phe866Leu) c.2586T>G (p.Phe862Leu) | |
2 | g.144398580A>G | CA429445256 | ZEB2 | c.*2456T>C (n.*2456T>C) c.1830T>C (p.Phe610=) c.2607T>C (p.Phe869=) n.2576T>C c.2271T>C (p.Phe757=) c.2682T>C (p.Phe894=) c.*2324T>C (n.*2324T>C) n.2707T>C c.138T>C (p.Phe46=) c.2604T>C (p.Phe868=) c.655+2619T>C (n.655+2619T>C) c.1168-652T>C (n.1168-652T>C) c.2535T>C (p.Phe845=) c.2598T>C (p.Phe866=) c.2586T>C (p.Phe862=) | |
2 | g.144398580A>T | CA348707782 | ZEB2 | c.*2456T>A (n.*2456T>A) c.1830T>A (p.Phe610Leu) c.2607T>A (p.Phe869Leu) n.2576T>A c.2271T>A (p.Phe757Leu) c.2682T>A (p.Phe894Leu) c.*2324T>A (n.*2324T>A) n.2707T>A c.138T>A (p.Phe46Leu) c.2604T>A (p.Phe868Leu) c.655+2619T>A (n.655+2619T>A) c.1168-652T>A (n.1168-652T>A) c.2535T>A (p.Phe845Leu) c.2598T>A (p.Phe866Leu) c.2586T>A (p.Phe862Leu) | |
2 | g.144398581A>C | CA348707784 | ZEB2 | c.*2455T>G (n.*2455T>G) c.1829T>G (p.Phe610Cys) c.2606T>G (p.Phe869Cys) n.2575T>G c.2270T>G (p.Phe757Cys) c.2681T>G (p.Phe894Cys) c.*2323T>G (n.*2323T>G) n.2706T>G c.137T>G (p.Phe46Cys) c.2603T>G (p.Phe868Cys) c.655+2618T>G (n.655+2618T>G) c.1168-653T>G (n.1168-653T>G) c.2534T>G (p.Phe845Cys) c.2597T>G (p.Phe866Cys) c.2585T>G (p.Phe862Cys) | |
2 | g.144398581A>G | CA348707786 | ZEB2 | c.*2455T>C (n.*2455T>C) c.1829T>C (p.Phe610Ser) c.2606T>C (p.Phe869Ser) n.2575T>C c.2270T>C (p.Phe757Ser) c.2681T>C (p.Phe894Ser) c.*2323T>C (n.*2323T>C) n.2706T>C c.137T>C (p.Phe46Ser) c.2603T>C (p.Phe868Ser) c.655+2618T>C (n.655+2618T>C) c.1168-653T>C (n.1168-653T>C) c.2534T>C (p.Phe845Ser) c.2597T>C (p.Phe866Ser) c.2585T>C (p.Phe862Ser) | |
2 | g.144398581A>T | CA348707787 | ZEB2 | c.*2455T>A (n.*2455T>A) c.1829T>A (p.Phe610Tyr) c.2606T>A (p.Phe869Tyr) n.2575T>A c.2270T>A (p.Phe757Tyr) c.2681T>A (p.Phe894Tyr) c.*2323T>A (n.*2323T>A) n.2706T>A c.137T>A (p.Phe46Tyr) c.2603T>A (p.Phe868Tyr) c.655+2618T>A (n.655+2618T>A) c.1168-653T>A (n.1168-653T>A) c.2534T>A (p.Phe845Tyr) c.2597T>A (p.Phe866Tyr) c.2585T>A (p.Phe862Tyr) | |
2 | g.144398582A>C | CA348707789 | ZEB2 | c.*2454T>G (n.*2454T>G) c.1828T>G (p.Phe610Val) c.2605T>G (p.Phe869Val) n.2574T>G c.2269T>G (p.Phe757Val) c.2680T>G (p.Phe894Val) c.*2322T>G (n.*2322T>G) n.2705T>G c.136T>G (p.Phe46Val) c.2602T>G (p.Phe868Val) c.655+2617T>G (n.655+2617T>G) c.1168-654T>G (n.1168-654T>G) c.2533T>G (p.Phe845Val) c.2596T>G (p.Phe866Val) c.2584T>G (p.Phe862Val) | |
2 | g.144398582A>G | CA348707790 | ZEB2 | c.*2454T>C (n.*2454T>C) c.1828T>C (p.Phe610Leu) c.2605T>C (p.Phe869Leu) n.2574T>C c.2269T>C (p.Phe757Leu) c.2680T>C (p.Phe894Leu) c.*2322T>C (n.*2322T>C) n.2705T>C c.136T>C (p.Phe46Leu) c.2602T>C (p.Phe868Leu) c.655+2617T>C (n.655+2617T>C) c.1168-654T>C (n.1168-654T>C) c.2533T>C (p.Phe845Leu) c.2596T>C (p.Phe866Leu) c.2584T>C (p.Phe862Leu) | |
2 | g.144398582A>T | CA348707792 | ZEB2 | c.*2454T>A (n.*2454T>A) c.1828T>A (p.Phe610Ile) c.2605T>A (p.Phe869Ile) n.2574T>A c.2269T>A (p.Phe757Ile) c.2680T>A (p.Phe894Ile) c.*2322T>A (n.*2322T>A) n.2705T>A c.136T>A (p.Phe46Ile) c.2602T>A (p.Phe868Ile) c.655+2617T>A (n.655+2617T>A) c.1168-654T>A (n.1168-654T>A) c.2533T>A (p.Phe845Ile) c.2596T>A (p.Phe866Ile) c.2584T>A (p.Phe862Ile) | |
2 | g.144398583T>A | CA348707793 | ZEB2 | c.*2453A>T (n.*2453A>T) c.1827A>T (p.Glu609Asp) c.2604A>T (p.Glu868Asp) n.2573A>T c.2268A>T (p.Glu756Asp) c.2679A>T (p.Glu893Asp) c.*2321A>T (n.*2321A>T) n.2704A>T c.135A>T (p.Glu45Asp) c.2601A>T (p.Glu867Asp) c.655+2616A>T (n.655+2616A>T) c.1168-655A>T (n.1168-655A>T) c.2532A>T (p.Glu844Asp) c.2595A>T (p.Glu865Asp) c.2583A>T (p.Glu861Asp) | |
2 | g.144398583T>C | CA429445264 | ZEB2 | c.*2453A>G (n.*2453A>G) c.1827A>G (p.Glu609=) c.2604A>G (p.Glu868=) n.2573A>G c.2268A>G (p.Glu756=) c.2679A>G (p.Glu893=) c.*2321A>G (n.*2321A>G) n.2704A>G c.135A>G (p.Glu45=) c.2601A>G (p.Glu867=) c.655+2616A>G (n.655+2616A>G) c.1168-655A>G (n.1168-655A>G) c.2532A>G (p.Glu844=) c.2595A>G (p.Glu865=) c.2583A>G (p.Glu861=) | dbSNP |
2 | g.144398583T>G | CA348707794 | ZEB2 | c.*2453A>C (n.*2453A>C) c.1827A>C (p.Glu609Asp) c.2604A>C (p.Glu868Asp) n.2573A>C c.2268A>C (p.Glu756Asp) c.2679A>C (p.Glu893Asp) c.*2321A>C (n.*2321A>C) n.2704A>C c.135A>C (p.Glu45Asp) c.2601A>C (p.Glu867Asp) c.655+2616A>C (n.655+2616A>C) c.1168-655A>C (n.1168-655A>C) c.2532A>C (p.Glu844Asp) c.2595A>C (p.Glu865Asp) c.2583A>C (p.Glu861Asp) | |
2 | g.144398583T= | CA1294884956 | ZEB2 | c.*2453A= (n.*2453A=) c.1827A= (p.Glu609=) c.2604A= (p.Glu868=) n.2573A= c.2268A= (p.Glu756=) c.2679A= (p.Glu893=) c.*2321A= (n.*2321A=) n.2704A= c.135A= (p.Glu45=) c.2601A= (p.Glu867=) c.655+2616A= (n.655+2616A=) c.1168-655A= (n.1168-655A=) c.2532A= (p.Glu844=) c.2595A= (p.Glu865=) c.2583A= (p.Glu861=) | |
2 | g.144398584T>A | CA348707800 | ZEB2 | c.*2452A>T (n.*2452A>T) c.1826A>T (p.Glu609Val) c.2603A>T (p.Glu868Val) n.2572A>T c.2267A>T (p.Glu756Val) c.2678A>T (p.Glu893Val) c.*2320A>T (n.*2320A>T) n.2703A>T c.134A>T (p.Glu45Val) c.2600A>T (p.Glu867Val) c.655+2615A>T (n.655+2615A>T) c.1168-656A>T (n.1168-656A>T) c.2531A>T (p.Glu844Val) c.2594A>T (p.Glu865Val) c.2582A>T (p.Glu861Val) | |
2 | g.144398584T>C | CA348707798 | ZEB2 | c.*2452A>G (n.*2452A>G) c.1826A>G (p.Glu609Gly) c.2603A>G (p.Glu868Gly) n.2572A>G c.2267A>G (p.Glu756Gly) c.2678A>G (p.Glu893Gly) c.*2320A>G (n.*2320A>G) n.2703A>G c.134A>G (p.Glu45Gly) c.2600A>G (p.Glu867Gly) c.655+2615A>G (n.655+2615A>G) c.1168-656A>G (n.1168-656A>G) c.2531A>G (p.Glu844Gly) c.2594A>G (p.Glu865Gly) c.2582A>G (p.Glu861Gly) | |
2 | g.144398584T>G | CA348707796 | ZEB2 | c.*2452A>C (n.*2452A>C) c.1826A>C (p.Glu609Ala) c.2603A>C (p.Glu868Ala) n.2572A>C c.2267A>C (p.Glu756Ala) c.2678A>C (p.Glu893Ala) c.*2320A>C (n.*2320A>C) n.2703A>C c.134A>C (p.Glu45Ala) c.2600A>C (p.Glu867Ala) c.655+2615A>C (n.655+2615A>C) c.1168-656A>C (n.1168-656A>C) c.2531A>C (p.Glu844Ala) c.2594A>C (p.Glu865Ala) c.2582A>C (p.Glu861Ala) | |
2 | g.144398585C>A | CA348707801 | ZEB2 | c.*2451G>T (n.*2451G>T) c.1825G>T (p.Glu609Ter) c.2602G>T (p.Glu868Ter) n.2571G>T c.2266G>T (p.Glu756Ter) c.2677G>T (p.Glu893Ter) c.*2319G>T (n.*2319G>T) n.2702G>T c.133G>T (p.Glu45Ter) c.2599G>T (p.Glu867Ter) c.655+2614G>T (n.655+2614G>T) c.1168-657G>T (n.1168-657G>T) c.2530G>T (p.Glu844Ter) c.2593G>T (p.Glu865Ter) c.2581G>T (p.Glu861Ter) | |
2 | g.144398585C= | CA1294884957 | ZEB2 | c.*2451G= (n.*2451G=) c.1825G= (p.Glu609=) c.2602G= (p.Glu868=) n.2571G= c.2266G= (p.Glu756=) c.2677G= (p.Glu893=) c.*2319G= (n.*2319G=) n.2702G= c.133G= (p.Glu45=) c.2599G= (p.Glu867=) c.655+2614G= (n.655+2614G=) c.1168-657G= (n.1168-657G=) c.2530G= (p.Glu844=) c.2593G= (p.Glu865=) c.2581G= (p.Glu861=) | |
2 | g.144398585C>G | CA348707803 | ZEB2 | c.*2451G>C (n.*2451G>C) c.1825G>C (p.Glu609Gln) c.2602G>C (p.Glu868Gln) n.2571G>C c.2266G>C (p.Glu756Gln) c.2677G>C (p.Glu893Gln) c.*2319G>C (n.*2319G>C) n.2702G>C c.133G>C (p.Glu45Gln) c.2599G>C (p.Glu867Gln) c.655+2614G>C (n.655+2614G>C) c.1168-657G>C (n.1168-657G>C) c.2530G>C (p.Glu844Gln) c.2593G>C (p.Glu865Gln) c.2581G>C (p.Glu861Gln) | |
2 | g.144398585C>T | CA16621757 | ZEB2 | c.*2451G>A (n.*2451G>A) c.1825G>A (p.Glu609Lys) c.2602G>A (p.Glu868Lys) n.2571G>A c.2266G>A (p.Glu756Lys) c.2677G>A (p.Glu893Lys) c.*2319G>A (n.*2319G>A) n.2702G>A c.133G>A (p.Glu45Lys) c.2599G>A (p.Glu867Lys) c.655+2614G>A (n.655+2614G>A) c.1168-657G>A (n.1168-657G>A) c.2530G>A (p.Glu844Lys) c.2593G>A (p.Glu865Lys) c.2581G>A (p.Glu861Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.144398586C>A | CA348707806 | ZEB2 | c.*2450G>T (n.*2450G>T) c.1824G>T (p.Lys608Asn) c.2601G>T (p.Lys867Asn) n.2570G>T c.2265G>T (p.Lys755Asn) c.2676G>T (p.Lys892Asn) c.*2318G>T (n.*2318G>T) n.2701G>T c.132G>T (p.Lys44Asn) c.2598G>T (p.Lys866Asn) c.655+2613G>T (n.655+2613G>T) c.1168-658G>T (n.1168-658G>T) c.2529G>T (p.Lys843Asn) c.2592G>T (p.Lys864Asn) c.2580G>T (p.Lys860Asn) | |
2 | g.144398586C= | CA1294884958 | ZEB2 | c.*2450G= (n.*2450G=) c.1824G= (p.Lys608=) c.2601G= (p.Lys867=) n.2570G= c.2265G= (p.Lys755=) c.2676G= (p.Lys892=) c.*2318G= (n.*2318G=) n.2701G= c.132G= (p.Lys44=) c.2598G= (p.Lys866=) c.655+2613G= (n.655+2613G=) c.1168-658G= (n.1168-658G=) c.2529G= (p.Lys843=) c.2592G= (p.Lys864=) c.2580G= (p.Lys860=) | |
2 | g.144398586C>G | CA348707808 | ZEB2 | c.*2450G>C (n.*2450G>C) c.1824G>C (p.Lys608Asn) c.2601G>C (p.Lys867Asn) n.2570G>C c.2265G>C (p.Lys755Asn) c.2676G>C (p.Lys892Asn) c.*2318G>C (n.*2318G>C) n.2701G>C c.132G>C (p.Lys44Asn) c.2598G>C (p.Lys866Asn) c.655+2613G>C (n.655+2613G>C) c.1168-658G>C (n.1168-658G>C) c.2529G>C (p.Lys843Asn) c.2592G>C (p.Lys864Asn) c.2580G>C (p.Lys860Asn) | |
2 | g.144398586C>T | CA291675 | ZEB2 | c.*2450G>A (n.*2450G>A) c.1824G>A (p.Lys608=) c.2601G>A (p.Lys867=) n.2570G>A c.2265G>A (p.Lys755=) c.2676G>A (p.Lys892=) c.*2318G>A (n.*2318G>A) n.2701G>A c.132G>A (p.Lys44=) c.2598G>A (p.Lys866=) c.655+2613G>A (n.655+2613G>A) c.1168-658G>A (n.1168-658G>A) c.2529G>A (p.Lys843=) c.2592G>A (p.Lys864=) c.2580G>A (p.Lys860=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.144398587T>A | CA348707811 | ZEB2 | c.*2449A>T (n.*2449A>T) c.1823A>T (p.Lys608Met) c.2600A>T (p.Lys867Met) n.2569A>T c.2264A>T (p.Lys755Met) c.2675A>T (p.Lys892Met) c.*2317A>T (n.*2317A>T) n.2700A>T c.131A>T (p.Lys44Met) c.2597A>T (p.Lys866Met) c.655+2612A>T (n.655+2612A>T) c.1168-659A>T (n.1168-659A>T) c.2528A>T (p.Lys843Met) c.2591A>T (p.Lys864Met) c.2579A>T (p.Lys860Met) | |
2 | g.144398587T>C | CA348707813 | ZEB2 | c.*2449A>G (n.*2449A>G) c.1823A>G (p.Lys608Arg) c.2600A>G (p.Lys867Arg) n.2569A>G c.2264A>G (p.Lys755Arg) c.2675A>G (p.Lys892Arg) c.*2317A>G (n.*2317A>G) n.2700A>G c.131A>G (p.Lys44Arg) c.2597A>G (p.Lys866Arg) c.655+2612A>G (n.655+2612A>G) c.1168-659A>G (n.1168-659A>G) c.2528A>G (p.Lys843Arg) c.2591A>G (p.Lys864Arg) c.2579A>G (p.Lys860Arg) | |
2 | g.144398587T>G | CA348707814 | ZEB2 | c.*2449A>C (n.*2449A>C) c.1823A>C (p.Lys608Thr) c.2600A>C (p.Lys867Thr) n.2569A>C c.2264A>C (p.Lys755Thr) c.2675A>C (p.Lys892Thr) c.*2317A>C (n.*2317A>C) n.2700A>C c.131A>C (p.Lys44Thr) c.2597A>C (p.Lys866Thr) c.655+2612A>C (n.655+2612A>C) c.1168-659A>C (n.1168-659A>C) c.2528A>C (p.Lys843Thr) c.2591A>C (p.Lys864Thr) c.2579A>C (p.Lys860Thr) | |
2 | g.144398588T>A | CA348707817 | ZEB2 | c.*2448A>T (n.*2448A>T) c.1822A>T (p.Lys608Ter) c.2599A>T (p.Lys867Ter) n.2568A>T c.2263A>T (p.Lys755Ter) c.2674A>T (p.Lys892Ter) c.*2316A>T (n.*2316A>T) n.2699A>T c.130A>T (p.Lys44Ter) c.2596A>T (p.Lys866Ter) c.655+2611A>T (n.655+2611A>T) c.1168-660A>T (n.1168-660A>T) c.2527A>T (p.Lys843Ter) c.2590A>T (p.Lys864Ter) c.2578A>T (p.Lys860Ter) | |
2 | g.144398588T>C | CA348707819 | ZEB2 | c.*2448A>G (n.*2448A>G) c.1822A>G (p.Lys608Glu) c.2599A>G (p.Lys867Glu) n.2568A>G c.2263A>G (p.Lys755Glu) c.2674A>G (p.Lys892Glu) c.*2316A>G (n.*2316A>G) n.2699A>G c.130A>G (p.Lys44Glu) c.2596A>G (p.Lys866Glu) c.655+2611A>G (n.655+2611A>G) c.1168-660A>G (n.1168-660A>G) c.2527A>G (p.Lys843Glu) c.2590A>G (p.Lys864Glu) c.2578A>G (p.Lys860Glu) | |
2 | g.144398588T>G | CA348707820 | ZEB2 | c.*2448A>C (n.*2448A>C) c.1822A>C (p.Lys608Gln) c.2599A>C (p.Lys867Gln) n.2568A>C c.2263A>C (p.Lys755Gln) c.2674A>C (p.Lys892Gln) c.*2316A>C (n.*2316A>C) n.2699A>C c.130A>C (p.Lys44Gln) c.2596A>C (p.Lys866Gln) c.655+2611A>C (n.655+2611A>C) c.1168-660A>C (n.1168-660A>C) c.2527A>C (p.Lys843Gln) c.2590A>C (p.Lys864Gln) c.2578A>C (p.Lys860Gln) | |
2 | g.144398589C>A | CA348707822 | ZEB2 | c.*2447G>T (n.*2447G>T) c.1821G>T (p.Lys607Asn) c.2598G>T (p.Lys866Asn) n.2567G>T c.2262G>T (p.Lys754Asn) c.2673G>T (p.Lys891Asn) c.*2315G>T (n.*2315G>T) n.2698G>T c.129G>T (p.Lys43Asn) c.2595G>T (p.Lys865Asn) c.655+2610G>T (n.655+2610G>T) c.1168-661G>T (n.1168-661G>T) c.2526G>T (p.Lys842Asn) c.2589G>T (p.Lys863Asn) c.2577G>T (p.Lys859Asn) | |
2 | g.144398589C>G | CA348707823 | ZEB2 | c.*2447G>C (n.*2447G>C) c.1821G>C (p.Lys607Asn) c.2598G>C (p.Lys866Asn) n.2567G>C c.2262G>C (p.Lys754Asn) c.2673G>C (p.Lys891Asn) c.*2315G>C (n.*2315G>C) n.2698G>C c.129G>C (p.Lys43Asn) c.2595G>C (p.Lys865Asn) c.655+2610G>C (n.655+2610G>C) c.1168-661G>C (n.1168-661G>C) c.2526G>C (p.Lys842Asn) c.2589G>C (p.Lys863Asn) c.2577G>C (p.Lys859Asn) | COSMIC |
2 | g.144398589C>T | CA429445280 | ZEB2 | c.*2447G>A (n.*2447G>A) c.1821G>A (p.Lys607=) c.2598G>A (p.Lys866=) n.2567G>A c.2262G>A (p.Lys754=) c.2673G>A (p.Lys891=) c.*2315G>A (n.*2315G>A) n.2698G>A c.129G>A (p.Lys43=) c.2595G>A (p.Lys865=) c.655+2610G>A (n.655+2610G>A) c.1168-661G>A (n.1168-661G>A) c.2526G>A (p.Lys842=) c.2589G>A (p.Lys863=) c.2577G>A (p.Lys859=) | |
2 | g.144398590T>A | CA348707826 | ZEB2 | c.*2446A>T (n.*2446A>T) c.1820A>T (p.Lys607Met) c.2597A>T (p.Lys866Met) n.2566A>T c.2261A>T (p.Lys754Met) c.2672A>T (p.Lys891Met) c.*2314A>T (n.*2314A>T) n.2697A>T c.128A>T (p.Lys43Met) c.2594A>T (p.Lys865Met) c.655+2609A>T (n.655+2609A>T) c.1168-662A>T (n.1168-662A>T) c.2525A>T (p.Lys842Met) c.2588A>T (p.Lys863Met) c.2576A>T (p.Lys859Met) | ClinVar dbSNP |
2 | g.144398590T>C | CA348707828 | ZEB2 | c.*2446A>G (n.*2446A>G) c.1820A>G (p.Lys607Arg) c.2597A>G (p.Lys866Arg) n.2566A>G c.2261A>G (p.Lys754Arg) c.2672A>G (p.Lys891Arg) c.*2314A>G (n.*2314A>G) n.2697A>G c.128A>G (p.Lys43Arg) c.2594A>G (p.Lys865Arg) c.655+2609A>G (n.655+2609A>G) c.1168-662A>G (n.1168-662A>G) c.2525A>G (p.Lys842Arg) c.2588A>G (p.Lys863Arg) c.2576A>G (p.Lys859Arg) | |
2 | g.144398590T>G | CA348707829 | ZEB2 | c.*2446A>C (n.*2446A>C) c.1820A>C (p.Lys607Thr) c.2597A>C (p.Lys866Thr) n.2566A>C c.2261A>C (p.Lys754Thr) c.2672A>C (p.Lys891Thr) c.*2314A>C (n.*2314A>C) n.2697A>C c.128A>C (p.Lys43Thr) c.2594A>C (p.Lys865Thr) c.655+2609A>C (n.655+2609A>C) c.1168-662A>C (n.1168-662A>C) c.2525A>C (p.Lys842Thr) c.2588A>C (p.Lys863Thr) c.2576A>C (p.Lys859Thr) | |
2 | g.144398591T>A | CA348707831 | ZEB2 | c.*2445A>T (n.*2445A>T) c.1819A>T (p.Lys607Ter) c.2596A>T (p.Lys866Ter) n.2565A>T c.2260A>T (p.Lys754Ter) c.2671A>T (p.Lys891Ter) c.*2313A>T (n.*2313A>T) n.2696A>T c.127A>T (p.Lys43Ter) c.2593A>T (p.Lys865Ter) c.655+2608A>T (n.655+2608A>T) c.1168-663A>T (n.1168-663A>T) c.2524A>T (p.Lys842Ter) c.2587A>T (p.Lys863Ter) c.2575A>T (p.Lys859Ter) | |
2 | g.144398591T>C | CA348707833 | ZEB2 | c.*2445A>G (n.*2445A>G) c.1819A>G (p.Lys607Glu) c.2596A>G (p.Lys866Glu) n.2565A>G c.2260A>G (p.Lys754Glu) c.2671A>G (p.Lys891Glu) c.*2313A>G (n.*2313A>G) n.2696A>G c.127A>G (p.Lys43Glu) c.2593A>G (p.Lys865Glu) c.655+2608A>G (n.655+2608A>G) c.1168-663A>G (n.1168-663A>G) c.2524A>G (p.Lys842Glu) c.2587A>G (p.Lys863Glu) c.2575A>G (p.Lys859Glu) | |
2 | g.144398591T>G | CA348707835 | ZEB2 | c.*2445A>C (n.*2445A>C) c.1819A>C (p.Lys607Gln) c.2596A>C (p.Lys866Gln) n.2565A>C c.2260A>C (p.Lys754Gln) c.2671A>C (p.Lys891Gln) c.*2313A>C (n.*2313A>C) n.2696A>C c.127A>C (p.Lys43Gln) c.2593A>C (p.Lys865Gln) c.655+2608A>C (n.655+2608A>C) c.1168-663A>C (n.1168-663A>C) c.2524A>C (p.Lys842Gln) c.2587A>C (p.Lys863Gln) c.2575A>C (p.Lys859Gln) | |
2 | g.144398592G>A | CA429445282 | ZEB2 | c.*2444C>T (n.*2444C>T) c.1818C>T (p.Ile606=) c.2595C>T (p.Ile865=) n.2564C>T c.2259C>T (p.Ile753=) c.2670C>T (p.Ile890=) c.*2312C>T (n.*2312C>T) n.2695C>T c.126C>T (p.Ile42=) c.2592C>T (p.Ile864=) c.655+2607C>T (n.655+2607C>T) c.1168-664C>T (n.1168-664C>T) c.2523C>T (p.Ile841=) c.2586C>T (p.Ile862=) c.2574C>T (p.Ile858=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.144398592G>C | CA348707836 | ZEB2 | c.*2444C>G (n.*2444C>G) c.1818C>G (p.Ile606Met) c.2595C>G (p.Ile865Met) n.2564C>G c.2259C>G (p.Ile753Met) c.2670C>G (p.Ile890Met) c.*2312C>G (n.*2312C>G) n.2695C>G c.126C>G (p.Ile42Met) c.2592C>G (p.Ile864Met) c.655+2607C>G (n.655+2607C>G) c.1168-664C>G (n.1168-664C>G) c.2523C>G (p.Ile841Met) c.2586C>G (p.Ile862Met) c.2574C>G (p.Ile858Met) | |
2 | g.144398592G= | CA1294884959 | ZEB2 | c.*2444C= (n.*2444C=) c.1818C= (p.Ile606=) c.2595C= (p.Ile865=) n.2564C= c.2259C= (p.Ile753=) c.2670C= (p.Ile890=) c.*2312C= (n.*2312C=) n.2695C= c.126C= (p.Ile42=) c.2592C= (p.Ile864=) c.655+2607C= (n.655+2607C=) c.1168-664C= (n.1168-664C=) c.2523C= (p.Ile841=) c.2586C= (p.Ile862=) c.2574C= (p.Ile858=) | |
2 | g.144398592G>T | CA429445287 | ZEB2 | c.*2444C>A (n.*2444C>A) c.1818C>A (p.Ile606=) c.2595C>A (p.Ile865=) n.2564C>A c.2259C>A (p.Ile753=) c.2670C>A (p.Ile890=) c.*2312C>A (n.*2312C>A) n.2695C>A c.126C>A (p.Ile42=) c.2592C>A (p.Ile864=) c.655+2607C>A (n.655+2607C>A) c.1168-664C>A (n.1168-664C>A) c.2523C>A (p.Ile841=) c.2586C>A (p.Ile862=) c.2574C>A (p.Ile858=) | |
2 | g.144398593A>C | CA348707838 | ZEB2 | c.*2443T>G (n.*2443T>G) c.1817T>G (p.Ile606Ser) c.2594T>G (p.Ile865Ser) n.2563T>G c.2258T>G (p.Ile753Ser) c.2669T>G (p.Ile890Ser) c.*2311T>G (n.*2311T>G) n.2694T>G c.125T>G (p.Ile42Ser) c.2591T>G (p.Ile864Ser) c.655+2606T>G (n.655+2606T>G) c.1168-665T>G (n.1168-665T>G) c.2522T>G (p.Ile841Ser) c.2585T>G (p.Ile862Ser) c.2573T>G (p.Ile858Ser) | |
2 | g.144398593A>G | CA348707839 | ZEB2 | c.*2443T>C (n.*2443T>C) c.1817T>C (p.Ile606Thr) c.2594T>C (p.Ile865Thr) n.2563T>C c.2258T>C (p.Ile753Thr) c.2669T>C (p.Ile890Thr) c.*2311T>C (n.*2311T>C) n.2694T>C c.125T>C (p.Ile42Thr) c.2591T>C (p.Ile864Thr) c.655+2606T>C (n.655+2606T>C) c.1168-665T>C (n.1168-665T>C) c.2522T>C (p.Ile841Thr) c.2585T>C (p.Ile862Thr) c.2573T>C (p.Ile858Thr) | COSMIC |
2 | g.144398593A>T | CA348707841 | ZEB2 | c.*2443T>A (n.*2443T>A) c.1817T>A (p.Ile606Asn) c.2594T>A (p.Ile865Asn) n.2563T>A c.2258T>A (p.Ile753Asn) c.2669T>A (p.Ile890Asn) c.*2311T>A (n.*2311T>A) n.2694T>A c.125T>A (p.Ile42Asn) c.2591T>A (p.Ile864Asn) c.655+2606T>A (n.655+2606T>A) c.1168-665T>A (n.1168-665T>A) c.2522T>A (p.Ile841Asn) c.2585T>A (p.Ile862Asn) c.2573T>A (p.Ile858Asn) | |
2 | g.144398594T>A | CA348707843 | ZEB2 | c.*2442A>T (n.*2442A>T) c.1816A>T (p.Ile606Phe) c.2593A>T (p.Ile865Phe) n.2562A>T c.2257A>T (p.Ile753Phe) c.2668A>T (p.Ile890Phe) c.*2310A>T (n.*2310A>T) n.2693A>T c.124A>T (p.Ile42Phe) c.2590A>T (p.Ile864Phe) c.655+2605A>T (n.655+2605A>T) c.1168-666A>T (n.1168-666A>T) c.2521A>T (p.Ile841Phe) c.2584A>T (p.Ile862Phe) c.2572A>T (p.Ile858Phe) | |
2 | g.144398594T>C | CA348707845 | ZEB2 | c.*2442A>G (n.*2442A>G) c.1816A>G (p.Ile606Val) c.2593A>G (p.Ile865Val) n.2562A>G c.2257A>G (p.Ile753Val) c.2668A>G (p.Ile890Val) c.*2310A>G (n.*2310A>G) n.2693A>G c.124A>G (p.Ile42Val) c.2590A>G (p.Ile864Val) c.655+2605A>G (n.655+2605A>G) c.1168-666A>G (n.1168-666A>G) c.2521A>G (p.Ile841Val) c.2584A>G (p.Ile862Val) c.2572A>G (p.Ile858Val) | |
2 | g.144398594T>G | CA348707846 | ZEB2 | c.*2442A>C (n.*2442A>C) c.1816A>C (p.Ile606Leu) c.2593A>C (p.Ile865Leu) n.2562A>C c.2257A>C (p.Ile753Leu) c.2668A>C (p.Ile890Leu) c.*2310A>C (n.*2310A>C) n.2693A>C c.124A>C (p.Ile42Leu) c.2590A>C (p.Ile864Leu) c.655+2605A>C (n.655+2605A>C) c.1168-666A>C (n.1168-666A>C) c.2521A>C (p.Ile841Leu) c.2584A>C (p.Ile862Leu) c.2572A>C (p.Ile858Leu) | |
2 | g.144398595A>C | CA348707848 | ZEB2 | c.*2441T>G (n.*2441T>G) c.1815T>G (p.Phe605Leu) c.2592T>G (p.Phe864Leu) n.2561T>G c.2256T>G (p.Phe752Leu) c.2667T>G (p.Phe889Leu) c.*2309T>G (n.*2309T>G) n.2692T>G c.123T>G (p.Phe41Leu) c.2589T>G (p.Phe863Leu) c.655+2604T>G (n.655+2604T>G) c.1168-667T>G (n.1168-667T>G) c.2520T>G (p.Phe840Leu) c.2583T>G (p.Phe861Leu) c.2571T>G (p.Phe857Leu) | |
2 | g.144398595A>G | CA429445564 | ZEB2 | c.*2441T>C (n.*2441T>C) c.1815T>C (p.Phe605=) c.2592T>C (p.Phe864=) n.2561T>C c.2256T>C (p.Phe752=) c.2667T>C (p.Phe889=) c.*2309T>C (n.*2309T>C) n.2692T>C c.123T>C (p.Phe41=) c.2589T>C (p.Phe863=) c.655+2604T>C (n.655+2604T>C) c.1168-667T>C (n.1168-667T>C) c.2520T>C (p.Phe840=) c.2583T>C (p.Phe861=) c.2571T>C (p.Phe857=) | |
2 | g.144398595A>T | CA348707850 | ZEB2 | c.*2441T>A (n.*2441T>A) c.1815T>A (p.Phe605Leu) c.2592T>A (p.Phe864Leu) n.2561T>A c.2256T>A (p.Phe752Leu) c.2667T>A (p.Phe889Leu) c.*2309T>A (n.*2309T>A) n.2692T>A c.123T>A (p.Phe41Leu) c.2589T>A (p.Phe863Leu) c.655+2604T>A (n.655+2604T>A) c.1168-667T>A (n.1168-667T>A) c.2520T>A (p.Phe840Leu) c.2583T>A (p.Phe861Leu) c.2571T>A (p.Phe857Leu) | COSMIC |
2 | g.144398598del | CA2499214971 | ZEB2 | c.*2441del (n.*2441del) c.1815del (p.Phe605LeufsTer23) c.2592del (p.Phe864LeufsTer23) n.2561del c.2256del (p.Phe752LeufsTer23) c.2667del (p.Phe889LeufsTer23) c.*2309del (n.*2309del) n.2692del c.123del (p.Phe41LeufsTer23) c.2589del (p.Phe863LeufsTer23) c.655+2604del (n.655+2604del) c.1168-667del (n.1168-667del) c.2520del (p.Phe840LeufsTer23) c.2583del (p.Phe861LeufsTer23) c.2571del (p.Phe857LeufsTer23) | ClinVar dbSNP |
2 | g.144398596A>C | CA348707852 | ZEB2 | c.*2440T>G (n.*2440T>G) c.1814T>G (p.Phe605Cys) c.2591T>G (p.Phe864Cys) n.2560T>G c.2255T>G (p.Phe752Cys) c.2666T>G (p.Phe889Cys) c.*2308T>G (n.*2308T>G) n.2691T>G c.122T>G (p.Phe41Cys) c.2588T>G (p.Phe863Cys) c.655+2603T>G (n.655+2603T>G) c.1168-668T>G (n.1168-668T>G) c.2519T>G (p.Phe840Cys) c.2582T>G (p.Phe861Cys) c.2570T>G (p.Phe857Cys) | COSMIC |
2 | g.144398596A>G | CA348707854 | ZEB2 | c.*2440T>C (n.*2440T>C) c.1814T>C (p.Phe605Ser) c.2591T>C (p.Phe864Ser) n.2560T>C c.2255T>C (p.Phe752Ser) c.2666T>C (p.Phe889Ser) c.*2308T>C (n.*2308T>C) n.2691T>C c.122T>C (p.Phe41Ser) c.2588T>C (p.Phe863Ser) c.655+2603T>C (n.655+2603T>C) c.1168-668T>C (n.1168-668T>C) c.2519T>C (p.Phe840Ser) c.2582T>C (p.Phe861Ser) c.2570T>C (p.Phe857Ser) | |
2 | g.144398596A>T | CA348707855 | ZEB2 | c.*2440T>A (n.*2440T>A) c.1814T>A (p.Phe605Tyr) c.2591T>A (p.Phe864Tyr) n.2560T>A c.2255T>A (p.Phe752Tyr) c.2666T>A (p.Phe889Tyr) c.*2308T>A (n.*2308T>A) n.2691T>A c.122T>A (p.Phe41Tyr) c.2588T>A (p.Phe863Tyr) c.655+2603T>A (n.655+2603T>A) c.1168-668T>A (n.1168-668T>A) c.2519T>A (p.Phe840Tyr) c.2582T>A (p.Phe861Tyr) c.2570T>A (p.Phe857Tyr) | |
2 | g.144398597A>C | CA348707858 | ZEB2 | c.*2439T>G (n.*2439T>G) c.1813T>G (p.Phe605Val) c.2590T>G (p.Phe864Val) n.2559T>G c.2254T>G (p.Phe752Val) c.2665T>G (p.Phe889Val) c.*2307T>G (n.*2307T>G) n.2690T>G c.121T>G (p.Phe41Val) c.2587T>G (p.Phe863Val) c.655+2602T>G (n.655+2602T>G) c.1168-669T>G (n.1168-669T>G) c.2518T>G (p.Phe840Val) c.2581T>G (p.Phe861Val) c.2569T>G (p.Phe857Val) | |
2 | g.144398597A>G | CA348707859 | ZEB2 | c.*2439T>C (n.*2439T>C) c.1813T>C (p.Phe605Leu) c.2590T>C (p.Phe864Leu) n.2559T>C c.2254T>C (p.Phe752Leu) c.2665T>C (p.Phe889Leu) c.*2307T>C (n.*2307T>C) n.2690T>C c.121T>C (p.Phe41Leu) c.2587T>C (p.Phe863Leu) c.655+2602T>C (n.655+2602T>C) c.1168-669T>C (n.1168-669T>C) c.2518T>C (p.Phe840Leu) c.2581T>C (p.Phe861Leu) c.2569T>C (p.Phe857Leu) | |
2 | g.144398597A>T | CA348707861 | ZEB2 | c.*2439T>A (n.*2439T>A) c.1813T>A (p.Phe605Ile) c.2590T>A (p.Phe864Ile) n.2559T>A c.2254T>A (p.Phe752Ile) c.2665T>A (p.Phe889Ile) c.*2307T>A (n.*2307T>A) n.2690T>A c.121T>A (p.Phe41Ile) c.2587T>A (p.Phe863Ile) c.655+2602T>A (n.655+2602T>A) c.1168-669T>A (n.1168-669T>A) c.2518T>A (p.Phe840Ile) c.2581T>A (p.Phe861Ile) c.2569T>A (p.Phe857Ile) | |
2 | g.144398598A= | CA1294884960 | ZEB2 | c.*2438T= (n.*2438T=) c.1812T= (p.Thr604=) c.2589T= (p.Thr863=) n.2558T= c.2253T= (p.Thr751=) c.2664T= (p.Thr888=) c.*2306T= (n.*2306T=) n.2689T= c.120T= (p.Thr40=) c.2586T= (p.Thr862=) c.655+2601T= (n.655+2601T=) c.1168-670T= (n.1168-670T=) c.2517T= (p.Thr839=) c.2580T= (p.Thr860=) c.2568T= (p.Thr856=) | |
2 | g.144398598A>C | CA429445568 | ZEB2 | c.*2438T>G (n.*2438T>G) c.1812T>G (p.Thr604=) c.2589T>G (p.Thr863=) n.2558T>G c.2253T>G (p.Thr751=) c.2664T>G (p.Thr888=) c.*2306T>G (n.*2306T>G) n.2689T>G c.120T>G (p.Thr40=) c.2586T>G (p.Thr862=) c.655+2601T>G (n.655+2601T>G) c.1168-670T>G (n.1168-670T>G) c.2517T>G (p.Thr839=) c.2580T>G (p.Thr860=) c.2568T>G (p.Thr856=) | |
2 | g.144398598A>G | CA57554934 | ZEB2 | c.*2438T>C (n.*2438T>C) c.1812T>C (p.Thr604=) c.2589T>C (p.Thr863=) n.2558T>C c.2253T>C (p.Thr751=) c.2664T>C (p.Thr888=) c.*2306T>C (n.*2306T>C) n.2689T>C c.120T>C (p.Thr40=) c.2586T>C (p.Thr862=) c.655+2601T>C (n.655+2601T>C) c.1168-670T>C (n.1168-670T>C) c.2517T>C (p.Thr839=) c.2580T>C (p.Thr860=) c.2568T>C (p.Thr856=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.144398598A>T | CA429445569 | ZEB2 | c.*2438T>A (n.*2438T>A) c.1812T>A (p.Thr604=) c.2589T>A (p.Thr863=) n.2558T>A c.2253T>A (p.Thr751=) c.2664T>A (p.Thr888=) c.*2306T>A (n.*2306T>A) n.2689T>A c.120T>A (p.Thr40=) c.2586T>A (p.Thr862=) c.655+2601T>A (n.655+2601T>A) c.1168-670T>A (n.1168-670T>A) c.2517T>A (p.Thr839=) c.2580T>A (p.Thr860=) c.2568T>A (p.Thr856=) | |
2 | g.144398599G>A | CA348707862 | ZEB2 | c.*2437C>T (n.*2437C>T) c.1811C>T (p.Thr604Ile) c.2588C>T (p.Thr863Ile) n.2557C>T c.2252C>T (p.Thr751Ile) c.2663C>T (p.Thr888Ile) c.*2305C>T (n.*2305C>T) n.2688C>T c.119C>T (p.Thr40Ile) c.2585C>T (p.Thr862Ile) c.655+2600C>T (n.655+2600C>T) c.1168-671C>T (n.1168-671C>T) c.2516C>T (p.Thr839Ile) c.2579C>T (p.Thr860Ile) c.2567C>T (p.Thr856Ile) | gnomAD v4 |
2 | g.144398599G>C | CA348707864 | ZEB2 | c.*2437C>G (n.*2437C>G) c.1811C>G (p.Thr604Ser) c.2588C>G (p.Thr863Ser) n.2557C>G c.2252C>G (p.Thr751Ser) c.2663C>G (p.Thr888Ser) c.*2305C>G (n.*2305C>G) n.2688C>G c.119C>G (p.Thr40Ser) c.2585C>G (p.Thr862Ser) c.655+2600C>G (n.655+2600C>G) c.1168-671C>G (n.1168-671C>G) c.2516C>G (p.Thr839Ser) c.2579C>G (p.Thr860Ser) c.2567C>G (p.Thr856Ser) | |
2 | g.144398599G>T | CA348707866 | ZEB2 | c.*2437C>A (n.*2437C>A) c.1811C>A (p.Thr604Asn) c.2588C>A (p.Thr863Asn) n.2557C>A c.2252C>A (p.Thr751Asn) c.2663C>A (p.Thr888Asn) c.*2305C>A (n.*2305C>A) n.2688C>A c.119C>A (p.Thr40Asn) c.2585C>A (p.Thr862Asn) c.655+2600C>A (n.655+2600C>A) c.1168-671C>A (n.1168-671C>A) c.2516C>A (p.Thr839Asn) c.2579C>A (p.Thr860Asn) c.2567C>A (p.Thr856Asn) | |
2 | g.144398600T>A | CA348707868 | ZEB2 | c.*2436A>T (n.*2436A>T) c.1810A>T (p.Thr604Ser) c.2587A>T (p.Thr863Ser) n.2556A>T c.2251A>T (p.Thr751Ser) c.2662A>T (p.Thr888Ser) c.*2304A>T (n.*2304A>T) n.2687A>T c.118A>T (p.Thr40Ser) c.2584A>T (p.Thr862Ser) c.655+2599A>T (n.655+2599A>T) c.1168-672A>T (n.1168-672A>T) c.2515A>T (p.Thr839Ser) c.2578A>T (p.Thr860Ser) c.2566A>T (p.Thr856Ser) | |
2 | g.144398600T>C | CA348707869 | ZEB2 | c.*2436A>G (n.*2436A>G) c.1810A>G (p.Thr604Ala) c.2587A>G (p.Thr863Ala) n.2556A>G c.2251A>G (p.Thr751Ala) c.2662A>G (p.Thr888Ala) c.*2304A>G (n.*2304A>G) n.2687A>G c.118A>G (p.Thr40Ala) c.2584A>G (p.Thr862Ala) c.655+2599A>G (n.655+2599A>G) c.1168-672A>G (n.1168-672A>G) c.2515A>G (p.Thr839Ala) c.2578A>G (p.Thr860Ala) c.2566A>G (p.Thr856Ala) | |
2 | g.144398600T>G | CA348707871 | ZEB2 | c.*2436A>C (n.*2436A>C) c.1810A>C (p.Thr604Pro) c.2587A>C (p.Thr863Pro) n.2556A>C c.2251A>C (p.Thr751Pro) c.2662A>C (p.Thr888Pro) c.*2304A>C (n.*2304A>C) n.2687A>C c.118A>C (p.Thr40Pro) c.2584A>C (p.Thr862Pro) c.655+2599A>C (n.655+2599A>C) c.1168-672A>C (n.1168-672A>C) c.2515A>C (p.Thr839Pro) c.2578A>C (p.Thr860Pro) c.2566A>C (p.Thr856Pro) | |
2 | g.144398601C>A | CA348707874 | ZEB2 | c.*2435G>T (n.*2435G>T) c.1809G>T (p.Leu603Phe) c.2586G>T (p.Leu862Phe) n.2555G>T c.2250G>T (p.Leu750Phe) c.2661G>T (p.Leu887Phe) c.*2303G>T (n.*2303G>T) n.2686G>T c.117G>T (p.Leu39Phe) c.2583G>T (p.Leu861Phe) c.655+2598G>T (n.655+2598G>T) c.1168-673G>T (n.1168-673G>T) c.2514G>T (p.Leu838Phe) c.2577G>T (p.Leu859Phe) c.2565G>T (p.Leu855Phe) | gnomAD v4 |
2 | g.144398601C= | CA1294884961 | ZEB2 | c.*2435G= (n.*2435G=) c.1809G= (p.Leu603=) c.2586G= (p.Leu862=) n.2555G= c.2250G= (p.Leu750=) c.2661G= (p.Leu887=) c.*2303G= (n.*2303G=) n.2686G= c.117G= (p.Leu39=) c.2583G= (p.Leu861=) c.655+2598G= (n.655+2598G=) c.1168-673G= (n.1168-673G=) c.2514G= (p.Leu838=) c.2577G= (p.Leu859=) c.2565G= (p.Leu855=) | |
2 | g.144398601C>G | CA348707875 | ZEB2 | c.*2435G>C (n.*2435G>C) c.1809G>C (p.Leu603Phe) c.2586G>C (p.Leu862Phe) n.2555G>C c.2250G>C (p.Leu750Phe) c.2661G>C (p.Leu887Phe) c.*2303G>C (n.*2303G>C) n.2686G>C c.117G>C (p.Leu39Phe) c.2583G>C (p.Leu861Phe) c.655+2598G>C (n.655+2598G>C) c.1168-673G>C (n.1168-673G>C) c.2514G>C (p.Leu838Phe) c.2577G>C (p.Leu859Phe) c.2565G>C (p.Leu855Phe) | gnomAD v4 |
2 | g.144398601C>T | CA429445574 | ZEB2 | c.*2435G>A (n.*2435G>A) c.1809G>A (p.Leu603=) c.2586G>A (p.Leu862=) n.2555G>A c.2250G>A (p.Leu750=) c.2661G>A (p.Leu887=) c.*2303G>A (n.*2303G>A) n.2686G>A c.117G>A (p.Leu39=) c.2583G>A (p.Leu861=) c.655+2598G>A (n.655+2598G>A) c.1168-673G>A (n.1168-673G>A) c.2514G>A (p.Leu838=) c.2577G>A (p.Leu859=) c.2565G>A (p.Leu855=) | dbSNP |
2 | g.144398602A>C | CA348707878 | ZEB2 | c.*2434T>G (n.*2434T>G) c.1808T>G (p.Leu603Trp) c.2585T>G (p.Leu862Trp) n.2554T>G c.2249T>G (p.Leu750Trp) c.2660T>G (p.Leu887Trp) c.*2302T>G (n.*2302T>G) n.2685T>G c.116T>G (p.Leu39Trp) c.2582T>G (p.Leu861Trp) c.655+2597T>G (n.655+2597T>G) c.1168-674T>G (n.1168-674T>G) c.2513T>G (p.Leu838Trp) c.2576T>G (p.Leu859Trp) c.2564T>G (p.Leu855Trp) | |
2 | g.144398602A>G | CA348707879 | ZEB2 | c.*2434T>C (n.*2434T>C) c.1808T>C (p.Leu603Ser) c.2585T>C (p.Leu862Ser) n.2554T>C c.2249T>C (p.Leu750Ser) c.2660T>C (p.Leu887Ser) c.*2302T>C (n.*2302T>C) n.2685T>C c.116T>C (p.Leu39Ser) c.2582T>C (p.Leu861Ser) c.655+2597T>C (n.655+2597T>C) c.1168-674T>C (n.1168-674T>C) c.2513T>C (p.Leu838Ser) c.2576T>C (p.Leu859Ser) c.2564T>C (p.Leu855Ser) | |
2 | g.144398602A>T | CA348707881 | ZEB2 | c.*2434T>A (n.*2434T>A) c.1808T>A (p.Leu603Ter) c.2585T>A (p.Leu862Ter) n.2554T>A c.2249T>A (p.Leu750Ter) c.2660T>A (p.Leu887Ter) c.*2302T>A (n.*2302T>A) n.2685T>A c.116T>A (p.Leu39Ter) c.2582T>A (p.Leu861Ter) c.655+2597T>A (n.655+2597T>A) c.1168-674T>A (n.1168-674T>A) c.2513T>A (p.Leu838Ter) c.2576T>A (p.Leu859Ter) c.2564T>A (p.Leu855Ter) | COSMIC |
2 | g.144398603A>C | CA348707882 | ZEB2 | c.*2433T>G (n.*2433T>G) c.1807T>G (p.Leu603Val) c.2584T>G (p.Leu862Val) n.2553T>G c.2248T>G (p.Leu750Val) c.2659T>G (p.Leu887Val) c.*2301T>G (n.*2301T>G) n.2684T>G c.115T>G (p.Leu39Val) c.2581T>G (p.Leu861Val) c.655+2596T>G (n.655+2596T>G) c.1168-675T>G (n.1168-675T>G) c.2512T>G (p.Leu838Val) c.2575T>G (p.Leu859Val) c.2563T>G (p.Leu855Val) | COSMIC |
2 | g.144398603A>G | CA429445580 | ZEB2 | c.*2433T>C (n.*2433T>C) c.1807T>C (p.Leu603=) c.2584T>C (p.Leu862=) n.2553T>C c.2248T>C (p.Leu750=) c.2659T>C (p.Leu887=) c.*2301T>C (n.*2301T>C) n.2684T>C c.115T>C (p.Leu39=) c.2581T>C (p.Leu861=) c.655+2596T>C (n.655+2596T>C) c.1168-675T>C (n.1168-675T>C) c.2512T>C (p.Leu838=) c.2575T>C (p.Leu859=) c.2563T>C (p.Leu855=) | COSMIC |
2 | g.144398603A>T | CA348707884 | ZEB2 | c.*2433T>A (n.*2433T>A) c.1807T>A (p.Leu603Met) c.2584T>A (p.Leu862Met) n.2553T>A c.2248T>A (p.Leu750Met) c.2659T>A (p.Leu887Met) c.*2301T>A (n.*2301T>A) n.2684T>A c.115T>A (p.Leu39Met) c.2581T>A (p.Leu861Met) c.655+2596T>A (n.655+2596T>A) c.1168-675T>A (n.1168-675T>A) c.2512T>A (p.Leu838Met) c.2575T>A (p.Leu859Met) c.2563T>A (p.Leu855Met) | gnomAD v4 |
2 | g.144398604G>A | CA429445582 | ZEB2 | c.*2432C>T (n.*2432C>T) c.1806C>T (p.Asn602=) c.2583C>T (p.Asn861=) n.2552C>T c.2247C>T (p.Asn749=) c.2658C>T (p.Asn886=) c.*2300C>T (n.*2300C>T) n.2683C>T c.114C>T (p.Asn38=) c.2580C>T (p.Asn860=) c.655+2595C>T (n.655+2595C>T) c.1168-676C>T (n.1168-676C>T) c.2511C>T (p.Asn837=) c.2574C>T (p.Asn858=) c.2562C>T (p.Asn854=) | |
2 | g.144398604G>C | CA348707886 | ZEB2 | c.*2432C>G (n.*2432C>G) c.1806C>G (p.Asn602Lys) c.2583C>G (p.Asn861Lys) n.2552C>G c.2247C>G (p.Asn749Lys) c.2658C>G (p.Asn886Lys) c.*2300C>G (n.*2300C>G) n.2683C>G c.114C>G (p.Asn38Lys) c.2580C>G (p.Asn860Lys) c.655+2595C>G (n.655+2595C>G) c.1168-676C>G (n.1168-676C>G) c.2511C>G (p.Asn837Lys) c.2574C>G (p.Asn858Lys) c.2562C>G (p.Asn854Lys) | |
2 | g.144398604G>T | CA348707887 | ZEB2 | c.*2432C>A (n.*2432C>A) c.1806C>A (p.Asn602Lys) c.2583C>A (p.Asn861Lys) n.2552C>A c.2247C>A (p.Asn749Lys) c.2658C>A (p.Asn886Lys) c.*2300C>A (n.*2300C>A) n.2683C>A c.114C>A (p.Asn38Lys) c.2580C>A (p.Asn860Lys) c.655+2595C>A (n.655+2595C>A) c.1168-676C>A (n.1168-676C>A) c.2511C>A (p.Asn837Lys) c.2574C>A (p.Asn858Lys) c.2562C>A (p.Asn854Lys) | |
2 | g.144398605T>A | CA348707890 | ZEB2 | c.*2431A>T (n.*2431A>T) c.1805A>T (p.Asn602Ile) c.2582A>T (p.Asn861Ile) n.2551A>T c.2246A>T (p.Asn749Ile) c.2657A>T (p.Asn886Ile) c.*2299A>T (n.*2299A>T) n.2682A>T c.113A>T (p.Asn38Ile) c.2579A>T (p.Asn860Ile) c.655+2594A>T (n.655+2594A>T) c.1168-677A>T (n.1168-677A>T) c.2510A>T (p.Asn837Ile) c.2573A>T (p.Asn858Ile) c.2561A>T (p.Asn854Ile) | |
2 | g.144398605T>C | CA348707891 | ZEB2 | c.*2431A>G (n.*2431A>G) c.1805A>G (p.Asn602Ser) c.2582A>G (p.Asn861Ser) n.2551A>G c.2246A>G (p.Asn749Ser) c.2657A>G (p.Asn886Ser) c.*2299A>G (n.*2299A>G) n.2682A>G c.113A>G (p.Asn38Ser) c.2579A>G (p.Asn860Ser) c.655+2594A>G (n.655+2594A>G) c.1168-677A>G (n.1168-677A>G) c.2510A>G (p.Asn837Ser) c.2573A>G (p.Asn858Ser) c.2561A>G (p.Asn854Ser) | |
2 | g.144398605T>G | CA348707892 | ZEB2 | c.*2431A>C (n.*2431A>C) c.1805A>C (p.Asn602Thr) c.2582A>C (p.Asn861Thr) n.2551A>C c.2246A>C (p.Asn749Thr) c.2657A>C (p.Asn886Thr) c.*2299A>C (n.*2299A>C) n.2682A>C c.113A>C (p.Asn38Thr) c.2579A>C (p.Asn860Thr) c.655+2594A>C (n.655+2594A>C) c.1168-677A>C (n.1168-677A>C) c.2510A>C (p.Asn837Thr) c.2573A>C (p.Asn858Thr) c.2561A>C (p.Asn854Thr) | |
2 | g.144398606T>A | CA348707894 | ZEB2 | c.*2430A>T (n.*2430A>T) c.1804A>T (p.Asn602Tyr) c.2581A>T (p.Asn861Tyr) n.2550A>T c.2245A>T (p.Asn749Tyr) c.2656A>T (p.Asn886Tyr) c.*2298A>T (n.*2298A>T) n.2681A>T c.112A>T (p.Asn38Tyr) c.2578A>T (p.Asn860Tyr) c.655+2593A>T (n.655+2593A>T) c.1168-678A>T (n.1168-678A>T) c.2509A>T (p.Asn837Tyr) c.2572A>T (p.Asn858Tyr) c.2560A>T (p.Asn854Tyr) | |
2 | g.144398606T>C | CA348707896 | ZEB2 | c.*2430A>G (n.*2430A>G) c.1804A>G (p.Asn602Asp) c.2581A>G (p.Asn861Asp) n.2550A>G c.2245A>G (p.Asn749Asp) c.2656A>G (p.Asn886Asp) c.*2298A>G (n.*2298A>G) n.2681A>G c.112A>G (p.Asn38Asp) c.2578A>G (p.Asn860Asp) c.655+2593A>G (n.655+2593A>G) c.1168-678A>G (n.1168-678A>G) c.2509A>G (p.Asn837Asp) c.2572A>G (p.Asn858Asp) c.2560A>G (p.Asn854Asp) | |
2 | g.144398606T>G | CA348707898 | ZEB2 | c.*2430A>C (n.*2430A>C) c.1804A>C (p.Asn602His) c.2581A>C (p.Asn861His) n.2550A>C c.2245A>C (p.Asn749His) c.2656A>C (p.Asn886His) c.*2298A>C (n.*2298A>C) n.2681A>C c.112A>C (p.Asn38His) c.2578A>C (p.Asn860His) c.655+2593A>C (n.655+2593A>C) c.1168-678A>C (n.1168-678A>C) c.2509A>C (p.Asn837His) c.2572A>C (p.Asn858His) c.2560A>C (p.Asn854His) | |
2 | g.144398607C>A | CA429445587 | ZEB2 | c.*2429G>T (n.*2429G>T) c.1803G>T (p.Leu601=) c.2580G>T (p.Leu860=) n.2549G>T c.2244G>T (p.Leu748=) c.2655G>T (p.Leu885=) c.*2297G>T (n.*2297G>T) n.2680G>T c.111G>T (p.Leu37=) c.2577G>T (p.Leu859=) c.655+2592G>T (n.655+2592G>T) c.1168-679G>T (n.1168-679G>T) c.2508G>T (p.Leu836=) c.2571G>T (p.Leu857=) c.2559G>T (p.Leu853=) | |
2 | g.144398607C= | CA1294884962 | ZEB2 | c.*2429G= (n.*2429G=) c.1803G= (p.Leu601=) c.2580G= (p.Leu860=) n.2549G= c.2244G= (p.Leu748=) c.2655G= (p.Leu885=) c.*2297G= (n.*2297G=) n.2680G= c.111G= (p.Leu37=) c.2577G= (p.Leu859=) c.655+2592G= (n.655+2592G=) c.1168-679G= (n.1168-679G=) c.2508G= (p.Leu836=) c.2571G= (p.Leu857=) c.2559G= (p.Leu853=) | |
2 | g.144398607C>G | CA429445585 | ZEB2 | c.*2429G>C (n.*2429G>C) c.1803G>C (p.Leu601=) c.2580G>C (p.Leu860=) n.2549G>C c.2244G>C (p.Leu748=) c.2655G>C (p.Leu885=) c.*2297G>C (n.*2297G>C) n.2680G>C c.111G>C (p.Leu37=) c.2577G>C (p.Leu859=) c.655+2592G>C (n.655+2592G>C) c.1168-679G>C (n.1168-679G>C) c.2508G>C (p.Leu836=) c.2571G>C (p.Leu857=) c.2559G>C (p.Leu853=) | |
2 | g.144398607C>T | CA429445586 | ZEB2 | c.*2429G>A (n.*2429G>A) c.1803G>A (p.Leu601=) c.2580G>A (p.Leu860=) n.2549G>A c.2244G>A (p.Leu748=) c.2655G>A (p.Leu885=) c.*2297G>A (n.*2297G>A) n.2680G>A c.111G>A (p.Leu37=) c.2577G>A (p.Leu859=) c.655+2592G>A (n.655+2592G>A) c.1168-679G>A (n.1168-679G>A) c.2508G>A (p.Leu836=) c.2571G>A (p.Leu857=) c.2559G>A (p.Leu853=) | |
2 | g.144398608del | CA2586970086 | ZEB2 | c.*2428del (n.*2428del) c.1802del (p.Leu601ArgfsTer3) c.2579del (p.Leu860ArgfsTer3) n.2548del c.2243del (p.Leu748ArgfsTer3) c.2654del (p.Leu885ArgfsTer3) c.*2296del (n.*2296del) n.2679del c.110del (p.Leu37ArgfsTer3) c.2576del (p.Leu859ArgfsTer3) c.655+2591del (n.655+2591del) c.1168-680del (n.1168-680del) c.2507del (p.Leu836ArgfsTer3) c.2570del (p.Leu857ArgfsTer3) c.2558del (p.Leu853ArgfsTer3) | |
2 | g.144398608A>C | CA348707904 | ZEB2 | c.*2428T>G (n.*2428T>G) c.1802T>G (p.Leu601Arg) c.2579T>G (p.Leu860Arg) n.2548T>G c.2243T>G (p.Leu748Arg) c.2654T>G (p.Leu885Arg) c.*2296T>G (n.*2296T>G) n.2679T>G c.110T>G (p.Leu37Arg) c.2576T>G (p.Leu859Arg) c.655+2591T>G (n.655+2591T>G) c.1168-680T>G (n.1168-680T>G) c.2507T>G (p.Leu836Arg) c.2570T>G (p.Leu857Arg) c.2558T>G (p.Leu853Arg) | |
2 | g.144398608A>G | CA348707902 | ZEB2 | c.*2428T>C (n.*2428T>C) c.1802T>C (p.Leu601Pro) c.2579T>C (p.Leu860Pro) n.2548T>C c.2243T>C (p.Leu748Pro) c.2654T>C (p.Leu885Pro) c.*2296T>C (n.*2296T>C) n.2679T>C c.110T>C (p.Leu37Pro) c.2576T>C (p.Leu859Pro) c.655+2591T>C (n.655+2591T>C) c.1168-680T>C (n.1168-680T>C) c.2507T>C (p.Leu836Pro) c.2570T>C (p.Leu857Pro) c.2558T>C (p.Leu853Pro) | |
2 | g.144398608A>T | CA348707900 | ZEB2 | c.*2428T>A (n.*2428T>A) c.1802T>A (p.Leu601Gln) c.2579T>A (p.Leu860Gln) n.2548T>A c.2243T>A (p.Leu748Gln) c.2654T>A (p.Leu885Gln) c.*2296T>A (n.*2296T>A) n.2679T>A c.110T>A (p.Leu37Gln) c.2576T>A (p.Leu859Gln) c.655+2591T>A (n.655+2591T>A) c.1168-680T>A (n.1168-680T>A) c.2507T>A (p.Leu836Gln) c.2570T>A (p.Leu857Gln) c.2558T>A (p.Leu853Gln) | |
2 | g.144398610_144398611dup | CA915942796 | ZEB2 | c.*2427_*2428dup (n.*2427_*2428dup) c.1801_1802dup (p.Asn602Ter) c.2578_2579dup (p.Asn861Ter) n.2547_2548dup c.2242_2243dup (p.Asn749Ter) c.2653_2654dup (p.Asn886Ter) c.*2295_*2296dup (n.*2295_*2296dup) n.2678_2679dup c.109_110dup (p.Asn38Ter) c.2575_2576dup (p.Asn860Ter) c.655+2590_655+2591dup (n.655+2590_655+2591dup) c.1168-681_1168-680dup (n.1168-681_1168-680dup) c.2506_2507dup (p.Asn837Ter) c.2569_2570dup (p.Asn858Ter) c.2557_2558dup (p.Asn854Ter) | ClinVar dbSNP |
2 | g.144398609G>A | CA429445590 | ZEB2 | c.*2427C>T (n.*2427C>T) c.1801C>T (p.Leu601=) c.2578C>T (p.Leu860=) n.2547C>T c.2242C>T (p.Leu748=) c.2653C>T (p.Leu885=) c.*2295C>T (n.*2295C>T) n.2678C>T c.109C>T (p.Leu37=) c.2575C>T (p.Leu859=) c.655+2590C>T (n.655+2590C>T) c.1168-681C>T (n.1168-681C>T) c.2506C>T (p.Leu836=) c.2569C>T (p.Leu857=) c.2557C>T (p.Leu853=) | gnomAD v4 |
2 | g.144398609G>C | CA348707906 | ZEB2 | c.*2427C>G (n.*2427C>G) c.1801C>G (p.Leu601Val) c.2578C>G (p.Leu860Val) n.2547C>G c.2242C>G (p.Leu748Val) c.2653C>G (p.Leu885Val) c.*2295C>G (n.*2295C>G) n.2678C>G c.109C>G (p.Leu37Val) c.2575C>G (p.Leu859Val) c.655+2590C>G (n.655+2590C>G) c.1168-681C>G (n.1168-681C>G) c.2506C>G (p.Leu836Val) c.2569C>G (p.Leu857Val) c.2557C>G (p.Leu853Val) | gnomAD v4 |
2 | g.144398609G>T | CA348707908 | ZEB2 | c.*2427C>A (n.*2427C>A) c.1801C>A (p.Leu601Met) c.2578C>A (p.Leu860Met) n.2547C>A c.2242C>A (p.Leu748Met) c.2653C>A (p.Leu885Met) c.*2295C>A (n.*2295C>A) n.2678C>A c.109C>A (p.Leu37Met) c.2575C>A (p.Leu859Met) c.655+2590C>A (n.655+2590C>A) c.1168-681C>A (n.1168-681C>A) c.2506C>A (p.Leu836Met) c.2569C>A (p.Leu857Met) c.2557C>A (p.Leu853Met) | |
2 | g.144398610A>C | CA429445591 | ZEB2 | c.*2426T>G (n.*2426T>G) c.1800T>G (p.Pro600=) c.2577T>G (p.Pro859=) n.2546T>G c.2241T>G (p.Pro747=) c.2652T>G (p.Pro884=) c.*2294T>G (n.*2294T>G) n.2677T>G c.108T>G (p.Pro36=) c.2574T>G (p.Pro858=) c.655+2589T>G (n.655+2589T>G) c.1168-682T>G (n.1168-682T>G) c.2505T>G (p.Pro835=) c.2568T>G (p.Pro856=) c.2556T>G (p.Pro852=) | |
2 | g.144398610A>G | CA429445593 | ZEB2 | c.*2426T>C (n.*2426T>C) c.1800T>C (p.Pro600=) c.2577T>C (p.Pro859=) n.2546T>C c.2241T>C (p.Pro747=) c.2652T>C (p.Pro884=) c.*2294T>C (n.*2294T>C) n.2677T>C c.108T>C (p.Pro36=) c.2574T>C (p.Pro858=) c.655+2589T>C (n.655+2589T>C) c.1168-682T>C (n.1168-682T>C) c.2505T>C (p.Pro835=) c.2568T>C (p.Pro856=) c.2556T>C (p.Pro852=) | |
2 | g.144398610A>T | CA429445592 | ZEB2 | c.*2426T>A (n.*2426T>A) c.1800T>A (p.Pro600=) c.2577T>A (p.Pro859=) n.2546T>A c.2241T>A (p.Pro747=) c.2652T>A (p.Pro884=) c.*2294T>A (n.*2294T>A) n.2677T>A c.108T>A (p.Pro36=) c.2574T>A (p.Pro858=) c.655+2589T>A (n.655+2589T>A) c.1168-682T>A (n.1168-682T>A) c.2505T>A (p.Pro835=) c.2568T>A (p.Pro856=) c.2556T>A (p.Pro852=) | |
2 | g.144398610dup | CA2580063843 | ZEB2 | c.*2426dup (n.*2426dup) c.1800dup (p.Leu601SerfsTer15) c.2577dup (p.Leu860SerfsTer15) n.2546dup c.2241dup (p.Leu748SerfsTer15) c.2652dup (p.Leu885SerfsTer15) c.*2294dup (n.*2294dup) n.2677dup c.108dup (p.Leu37SerfsTer15) c.2574dup (p.Leu859SerfsTer15) c.655+2589dup (n.655+2589dup) c.1168-682dup (n.1168-682dup) c.2505dup (p.Leu836SerfsTer15) c.2568dup (p.Leu857SerfsTer15) c.2556dup (p.Leu853SerfsTer15) | ClinVar |
2 | g.144398611G>A | CA348707911 | ZEB2 | c.*2425C>T (n.*2425C>T) c.1799C>T (p.Pro600Leu) c.2576C>T (p.Pro859Leu) n.2545C>T c.2240C>T (p.Pro747Leu) c.2651C>T (p.Pro884Leu) c.*2293C>T (n.*2293C>T) n.2676C>T c.107C>T (p.Pro36Leu) c.2573C>T (p.Pro858Leu) c.655+2588C>T (n.655+2588C>T) c.1168-683C>T (n.1168-683C>T) c.2504C>T (p.Pro835Leu) c.2567C>T (p.Pro856Leu) c.2555C>T (p.Pro852Leu) | |
2 | g.144398611G>C | CA348707912 | ZEB2 | c.*2425C>G (n.*2425C>G) c.1799C>G (p.Pro600Arg) c.2576C>G (p.Pro859Arg) n.2545C>G c.2240C>G (p.Pro747Arg) c.2651C>G (p.Pro884Arg) c.*2293C>G (n.*2293C>G) n.2676C>G c.107C>G (p.Pro36Arg) c.2573C>G (p.Pro858Arg) c.655+2588C>G (n.655+2588C>G) c.1168-683C>G (n.1168-683C>G) c.2504C>G (p.Pro835Arg) c.2567C>G (p.Pro856Arg) c.2555C>G (p.Pro852Arg) | |
2 | g.144398611G>T | CA348707914 | ZEB2 | c.*2425C>A (n.*2425C>A) c.1799C>A (p.Pro600His) c.2576C>A (p.Pro859His) n.2545C>A c.2240C>A (p.Pro747His) c.2651C>A (p.Pro884His) c.*2293C>A (n.*2293C>A) n.2676C>A c.107C>A (p.Pro36His) c.2573C>A (p.Pro858His) c.655+2588C>A (n.655+2588C>A) c.1168-683C>A (n.1168-683C>A) c.2504C>A (p.Pro835His) c.2567C>A (p.Pro856His) c.2555C>A (p.Pro852His) |