Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.117602152_117612006del | CA325806 | CFTR | c.2620-674_3367+198del c.*2334-674_*3081+198del c.2437-674_3184+198del c.*920-674_*1667+198del c.*2444-674_*3191+198del c.2194-674_2941+198del c.211-674_958+198del c.270-674_1017+198del c.1402-674_2149+198del c.2530-674_3277+198del c.2710-674_3457+198del c.2377-674_3124+198del | |
7 | g.117602152_117612040del | CA2499218685 | CFTR | c.2620-674_3367+232del c.*2334-674_*3081+232del c.2437-674_3184+232del c.*920-674_*1667+232del c.*2444-674_*3191+232del c.2194-674_2941+232del c.211-674_958+232del c.270-674_1017+232del c.1402-674_2149+232del c.2530-674_3277+232del c.2710-674_3457+232del c.2377-674_3124+232del | ClinVar |
7 | g.117602850_117602851dup | CA658822503 | CFTR | c.2644_2645dup (p.Trp882CysfsTer25) c.*2358_*2359dup (n.*2358_*2359dup) c.2461_2462dup (p.Trp821CysfsTer25) c.*944_*945dup (n.*944_*945dup) c.*2468_*2469dup (n.*2468_*2469dup) c.2218_2219dup (p.Trp740CysfsTer25) c.235_236dup (p.Trp79CysfsTer25) c.294_295dup c.1426_1427dup (p.Trp476CysfsTer25) c.2554_2555dup (p.Trp852CysfsTer25) c.2734_2735dup (p.Trp912CysfsTer25) c.2401_2402dup (p.Trp801CysfsTer25) | dbSNP |
7 | g.117602851G>A | CA326877 | CFTR | c.2645G>A (p.Trp882Ter) c.*2359G>A (n.*2359G>A) c.2462G>A (p.Trp821Ter) c.*945G>A (n.*945G>A) c.*2469G>A (n.*2469G>A) c.2219G>A (p.Trp740Ter) c.236G>A (p.Trp79Ter) c.295G>A c.1427G>A (p.Trp476Ter) c.2555G>A (p.Trp852Ter) c.2735G>A (p.Trp912Ter) c.2402G>A (p.Trp801Ter) | ClinVar dbSNP |
7 | g.117602851G>C | CA368986050 | CFTR | c.2645G>C (p.Trp882Ser) c.*2359G>C (n.*2359G>C) c.2462G>C (p.Trp821Ser) c.*945G>C (n.*945G>C) c.*2469G>C (n.*2469G>C) c.2219G>C (p.Trp740Ser) c.236G>C (p.Trp79Ser) c.295G>C c.1427G>C (p.Trp476Ser) c.2555G>C (p.Trp852Ser) c.2735G>C (p.Trp912Ser) c.2402G>C (p.Trp801Ser) | |
7 | g.117602851G= | CA1737373422 | CFTR | c.2645G= (p.Trp882=) c.*2359G= (n.*2359G=) c.2462G= (p.Trp821=) c.*945G= (n.*945G=) c.*2469G= (n.*2469G=) c.2219G= (p.Trp740=) c.236G= (p.Trp79=) c.295G= c.1427G= (p.Trp476=) c.2555G= (p.Trp852=) c.2735G= (p.Trp912=) c.2402G= (p.Trp801=) | |
7 | g.117602851G>T | CA368986052 | CFTR | c.2645G>T (p.Trp882Leu) c.*2359G>T (n.*2359G>T) c.2462G>T (p.Trp821Leu) c.*945G>T (n.*945G>T) c.*2469G>T (n.*2469G>T) c.2219G>T (p.Trp740Leu) c.236G>T (p.Trp79Leu) c.295G>T c.1427G>T (p.Trp476Leu) c.2555G>T (p.Trp852Leu) c.2735G>T (p.Trp912Leu) c.2402G>T (p.Trp801Leu) | |
7 | g.117602852G>A | CA368986064 | CFTR | c.2646G>A (p.Trp882Ter) c.*2360G>A (n.*2360G>A) c.2463G>A (p.Trp821Ter) c.*946G>A (n.*946G>A) c.*2470G>A (n.*2470G>A) c.2220G>A (p.Trp740Ter) c.237G>A (p.Trp79Ter) c.296G>A c.1428G>A (p.Trp476Ter) c.2556G>A (p.Trp852Ter) c.2736G>A (p.Trp912Ter) c.2403G>A (p.Trp801Ter) | ClinVar dbSNP |
7 | g.117602852G>C | CA368986056 | CFTR | c.2646G>C (p.Trp882Cys) c.*2360G>C (n.*2360G>C) c.2463G>C (p.Trp821Cys) c.*946G>C (n.*946G>C) c.*2470G>C (n.*2470G>C) c.2220G>C (p.Trp740Cys) c.237G>C (p.Trp79Cys) c.296G>C c.1428G>C (p.Trp476Cys) c.2556G>C (p.Trp852Cys) c.2736G>C (p.Trp912Cys) c.2403G>C (p.Trp801Cys) | |
7 | g.117602852G= | CA1737373426 | CFTR | c.2646G= (p.Trp882=) c.*2360G= (n.*2360G=) c.2463G= (p.Trp821=) c.*946G= (n.*946G=) c.*2470G= (n.*2470G=) c.2220G= (p.Trp740=) c.237G= (p.Trp79=) c.296G= c.1428G= (p.Trp476=) c.2556G= (p.Trp852=) c.2736G= (p.Trp912=) c.2403G= (p.Trp801=) | |
7 | g.117602852G>T | CA368986062 | CFTR | c.2646G>T (p.Trp882Cys) c.*2360G>T (n.*2360G>T) c.2463G>T (p.Trp821Cys) c.*946G>T (n.*946G>T) c.*2470G>T (n.*2470G>T) c.2220G>T (p.Trp740Cys) c.237G>T (p.Trp79Cys) c.296G>T c.1428G>T (p.Trp476Cys) c.2556G>T (p.Trp852Cys) c.2736G>T (p.Trp912Cys) c.2403G>T (p.Trp801Cys) | |
7 | g.117602853C>A | CA368986072 | CFTR | c.2647C>A (p.Leu883Ile) c.*2361C>A (n.*2361C>A) c.2464C>A (p.Leu822Ile) c.*947C>A (n.*947C>A) c.*2471C>A (n.*2471C>A) c.2221C>A (p.Leu741Ile) c.238C>A (p.Leu80Ile) c.297C>A c.1429C>A (p.Leu477Ile) c.2557C>A (p.Leu853Ile) c.2737C>A (p.Leu913Ile) c.2404C>A (p.Leu802Ile) | |
7 | g.117602853C>G | CA368986073 | CFTR | c.2647C>G (p.Leu883Val) c.*2361C>G (n.*2361C>G) c.2464C>G (p.Leu822Val) c.*947C>G (n.*947C>G) c.*2471C>G (n.*2471C>G) c.2221C>G (p.Leu741Val) c.238C>G (p.Leu80Val) c.297C>G c.1429C>G (p.Leu477Val) c.2557C>G (p.Leu853Val) c.2737C>G (p.Leu913Val) c.2404C>G (p.Leu802Val) | |
7 | g.117602853C>T | CA368986074 | CFTR | c.2647C>T (p.Leu883Phe) c.*2361C>T (n.*2361C>T) c.2464C>T (p.Leu822Phe) c.*947C>T (n.*947C>T) c.*2471C>T (n.*2471C>T) c.2221C>T (p.Leu741Phe) c.238C>T (p.Leu80Phe) c.297C>T c.1429C>T (p.Leu477Phe) c.2557C>T (p.Leu853Phe) c.2737C>T (p.Leu913Phe) c.2404C>T (p.Leu802Phe) | COSMIC |
7 | g.117602854T>A | CA368986076 | CFTR | c.2648T>A (p.Leu883His) c.*2362T>A (n.*2362T>A) c.2465T>A (p.Leu822His) c.*948T>A (n.*948T>A) c.*2472T>A (n.*2472T>A) c.2222T>A (p.Leu741His) c.239T>A (p.Leu80His) c.298T>A c.1430T>A (p.Leu477His) c.2558T>A (p.Leu853His) c.2738T>A (p.Leu913His) c.2405T>A (p.Leu802His) | |
7 | g.117602854T>C | CA368986080 | CFTR | c.2648T>C (p.Leu883Pro) c.*2362T>C (n.*2362T>C) c.2465T>C (p.Leu822Pro) c.*948T>C (n.*948T>C) c.*2472T>C (n.*2472T>C) c.2222T>C (p.Leu741Pro) c.239T>C (p.Leu80Pro) c.298T>C c.1430T>C (p.Leu477Pro) c.2558T>C (p.Leu853Pro) c.2738T>C (p.Leu913Pro) c.2405T>C (p.Leu802Pro) | |
7 | g.117602854T>G | CA368986083 | CFTR | c.2648T>G (p.Leu883Arg) c.*2362T>G (n.*2362T>G) c.2465T>G (p.Leu822Arg) c.*948T>G (n.*948T>G) c.*2472T>G (n.*2472T>G) c.2222T>G (p.Leu741Arg) c.239T>G (p.Leu80Arg) c.298T>G c.1430T>G (p.Leu477Arg) c.2558T>G (p.Leu853Arg) c.2738T>G (p.Leu913Arg) c.2405T>G (p.Leu802Arg) | |
7 | g.117602857_117602874del | CA2684587693 | CFTR | c.2651_2657+11del c.*2365_*2371+11del c.2468_2474+11del c.*951_*957+11del c.*2475_*2481+11del c.2225_2231+11del c.242_248+11del c.301_307+11del c.1433_1439+11del c.2561_2567+11del c.2741_2747+11del c.2408_2414+11del | gnomAD v4 |
7 | g.117602855C>A | CA457227780 | CFTR | c.2649C>A (p.Leu883=) c.*2363C>A (n.*2363C>A) c.2466C>A (p.Leu822=) c.*949C>A (n.*949C>A) c.*2473C>A (n.*2473C>A) c.2223C>A (p.Leu741=) c.240C>A (p.Leu80=) c.299C>A c.1431C>A (p.Leu477=) c.2559C>A (p.Leu853=) c.2739C>A (p.Leu913=) c.2406C>A (p.Leu802=) | |
7 | g.117602855C>G | CA457227781 | CFTR | c.2649C>G (p.Leu883=) c.*2363C>G (n.*2363C>G) c.2466C>G (p.Leu822=) c.*949C>G (n.*949C>G) c.*2473C>G (n.*2473C>G) c.2223C>G (p.Leu741=) c.240C>G (p.Leu80=) c.299C>G c.1431C>G (p.Leu477=) c.2559C>G (p.Leu853=) c.2739C>G (p.Leu913=) c.2406C>G (p.Leu802=) | |
7 | g.117602855C>T | CA457227782 | CFTR | c.2649C>T (p.Leu883=) c.*2363C>T (n.*2363C>T) c.2466C>T (p.Leu822=) c.*949C>T (n.*949C>T) c.*2473C>T (n.*2473C>T) c.2223C>T (p.Leu741=) c.240C>T (p.Leu80=) c.299C>T c.1431C>T (p.Leu477=) c.2559C>T (p.Leu853=) c.2739C>T (p.Leu913=) c.2406C>T (p.Leu802=) | |
7 | g.117602856C>A | CA368986087 | CFTR | c.2650C>A (p.Leu884Ile) c.*2364C>A (n.*2364C>A) c.2467C>A (p.Leu823Ile) c.*950C>A (n.*950C>A) c.*2474C>A (n.*2474C>A) c.2224C>A (p.Leu742Ile) c.241C>A (p.Leu81Ile) c.300C>A c.1432C>A (p.Leu478Ile) c.2560C>A (p.Leu854Ile) c.2740C>A (p.Leu914Ile) c.2407C>A (p.Leu803Ile) | |
7 | g.117602856C>G | CA368986088 | CFTR | c.2650C>G (p.Leu884Val) c.*2364C>G (n.*2364C>G) c.2467C>G (p.Leu823Val) c.*950C>G (n.*950C>G) c.*2474C>G (n.*2474C>G) c.2224C>G (p.Leu742Val) c.241C>G (p.Leu81Val) c.300C>G c.1432C>G (p.Leu478Val) c.2560C>G (p.Leu854Val) c.2740C>G (p.Leu914Val) c.2407C>G (p.Leu803Val) | |
7 | g.117602856C>T | CA368986089 | CFTR | c.2650C>T (p.Leu884Phe) c.*2364C>T (n.*2364C>T) c.2467C>T (p.Leu823Phe) c.*950C>T (n.*950C>T) c.*2474C>T (n.*2474C>T) c.2224C>T (p.Leu742Phe) c.241C>T (p.Leu81Phe) c.300C>T c.1432C>T (p.Leu478Phe) c.2560C>T (p.Leu854Phe) c.2740C>T (p.Leu914Phe) c.2407C>T (p.Leu803Phe) | gnomAD v4 |
7 | g.117602857T>A | CA164954946 | CFTR | c.2651T>A (p.Leu884His) c.*2365T>A (n.*2365T>A) c.2468T>A (p.Leu823His) c.*951T>A (n.*951T>A) c.*2475T>A (n.*2475T>A) c.2225T>A (p.Leu742His) c.242T>A (p.Leu81His) c.301T>A c.1433T>A (p.Leu478His) c.2561T>A (p.Leu854His) c.2741T>A (p.Leu914His) c.2408T>A (p.Leu803His) | dbSNP |
7 | g.117602857T>C | CA368986090 | CFTR | c.2651T>C (p.Leu884Pro) c.*2365T>C (n.*2365T>C) c.2468T>C (p.Leu823Pro) c.*951T>C (n.*951T>C) c.*2475T>C (n.*2475T>C) c.2225T>C (p.Leu742Pro) c.242T>C (p.Leu81Pro) c.301T>C c.1433T>C (p.Leu478Pro) c.2561T>C (p.Leu854Pro) c.2741T>C (p.Leu914Pro) c.2408T>C (p.Leu803Pro) | |
7 | g.117602857T>G | CA368986095 | CFTR | c.2651T>G (p.Leu884Arg) c.*2365T>G (n.*2365T>G) c.2468T>G (p.Leu823Arg) c.*951T>G (n.*951T>G) c.*2475T>G (n.*2475T>G) c.2225T>G (p.Leu742Arg) c.242T>G (p.Leu81Arg) c.301T>G c.1433T>G (p.Leu478Arg) c.2561T>G (p.Leu854Arg) c.2741T>G (p.Leu914Arg) c.2408T>G (p.Leu803Arg) | |
7 | g.117602857T= | CA1737373430 | CFTR | c.2651T= (p.Leu884=) c.*2365T= (n.*2365T=) c.2468T= (p.Leu823=) c.*951T= (n.*951T=) c.*2475T= (n.*2475T=) c.2225T= (p.Leu742=) c.242T= (p.Leu81=) c.301T= c.1433T= (p.Leu478=) c.2561T= (p.Leu854=) c.2741T= (p.Leu914=) c.2408T= (p.Leu803=) | |
7 | g.117602858T>A | CA457227783 | CFTR | c.2652T>A (p.Leu884=) c.*2366T>A (n.*2366T>A) c.2469T>A (p.Leu823=) c.*952T>A (n.*952T>A) c.*2476T>A (n.*2476T>A) c.2226T>A (p.Leu742=) c.243T>A (p.Leu81=) c.302T>A c.1434T>A (p.Leu478=) c.2562T>A (p.Leu854=) c.2742T>A (p.Leu914=) c.2409T>A (p.Leu803=) | gnomAD v4 |
7 | g.117602858T>C | CA457227784 | CFTR | c.2652T>C (p.Leu884=) c.*2366T>C (n.*2366T>C) c.2469T>C (p.Leu823=) c.*952T>C (n.*952T>C) c.*2476T>C (n.*2476T>C) c.2226T>C (p.Leu742=) c.243T>C (p.Leu81=) c.302T>C c.1434T>C (p.Leu478=) c.2562T>C (p.Leu854=) c.2742T>C (p.Leu914=) c.2409T>C (p.Leu803=) | gnomAD v4 |
7 | g.117602858T>G | CA457227785 | CFTR | c.2652T>G (p.Leu884=) c.*2366T>G (n.*2366T>G) c.2469T>G (p.Leu823=) c.*952T>G (n.*952T>G) c.*2476T>G (n.*2476T>G) c.2226T>G (p.Leu742=) c.243T>G (p.Leu81=) c.302T>G c.1434T>G (p.Leu478=) c.2562T>G (p.Leu854=) c.2742T>G (p.Leu914=) c.2409T>G (p.Leu803=) | |
7 | g.117602859G>A | CA368986104 | CFTR | c.2653G>A (p.Gly885Arg) c.*2367G>A (n.*2367G>A) c.2470G>A (p.Gly824Arg) c.*953G>A (n.*953G>A) c.*2477G>A (n.*2477G>A) c.2227G>A (p.Gly743Arg) c.244G>A (p.Gly82Arg) c.303G>A c.1435G>A (p.Gly479Arg) c.2563G>A (p.Gly855Arg) c.2743G>A (p.Gly915Arg) c.2410G>A (p.Gly804Arg) | |
7 | g.117602859G>C | CA368986102 | CFTR | c.2653G>C (p.Gly885Arg) c.*2367G>C (n.*2367G>C) c.2470G>C (p.Gly824Arg) c.*953G>C (n.*953G>C) c.*2477G>C (n.*2477G>C) c.2227G>C (p.Gly743Arg) c.244G>C (p.Gly82Arg) c.303G>C c.1435G>C (p.Gly479Arg) c.2563G>C (p.Gly855Arg) c.2743G>C (p.Gly915Arg) c.2410G>C (p.Gly804Arg) | |
7 | g.117602859G>T | CA368986100 | CFTR | c.2653G>T (p.Gly885Ter) c.*2367G>T (n.*2367G>T) c.2470G>T (p.Gly824Ter) c.*953G>T (n.*953G>T) c.*2477G>T (n.*2477G>T) c.2227G>T (p.Gly743Ter) c.244G>T (p.Gly82Ter) c.303G>T c.1435G>T (p.Gly479Ter) c.2563G>T (p.Gly855Ter) c.2743G>T (p.Gly915Ter) c.2410G>T (p.Gly804Ter) | |
7 | g.117602860G>A | CA368986106 | CFTR | c.2654G>A (p.Gly885Glu) c.*2368G>A (n.*2368G>A) c.2471G>A (p.Gly824Glu) c.*954G>A (n.*954G>A) c.*2478G>A (n.*2478G>A) c.2228G>A (p.Gly743Glu) c.245G>A (p.Gly82Glu) c.304G>A c.1436G>A (p.Gly479Glu) c.2564G>A (p.Gly855Glu) c.2744G>A (p.Gly915Glu) c.2411G>A (p.Gly804Glu) | dbSNP gnomAD v4 |
7 | g.117602860G>C | CA368986109 | CFTR | c.2654G>C (p.Gly885Ala) c.*2368G>C (n.*2368G>C) c.2471G>C (p.Gly824Ala) c.*954G>C (n.*954G>C) c.*2478G>C (n.*2478G>C) c.2228G>C (p.Gly743Ala) c.245G>C (p.Gly82Ala) c.304G>C c.1436G>C (p.Gly479Ala) c.2564G>C (p.Gly855Ala) c.2744G>C (p.Gly915Ala) c.2411G>C (p.Gly804Ala) | |
7 | g.117602860G= | CA1737373433 | CFTR | c.2654G= (p.Gly885=) c.*2368G= (n.*2368G=) c.2471G= (p.Gly824=) c.*954G= (n.*954G=) c.*2478G= (n.*2478G=) c.2228G= (p.Gly743=) c.245G= (p.Gly82=) c.304G= c.1436G= (p.Gly479=) c.2564G= (p.Gly855=) c.2744G= (p.Gly915=) c.2411G= (p.Gly804=) | |
7 | g.117602860G>T | CA368986111 | CFTR | c.2654G>T (p.Gly885Val) c.*2368G>T (n.*2368G>T) c.2471G>T (p.Gly824Val) c.*954G>T (n.*954G>T) c.*2478G>T (n.*2478G>T) c.2228G>T (p.Gly743Val) c.245G>T (p.Gly82Val) c.304G>T c.1436G>T (p.Gly479Val) c.2564G>T (p.Gly855Val) c.2744G>T (p.Gly915Val) c.2411G>T (p.Gly804Val) | |
7 | g.117602861A>C | CA457227786 | CFTR | c.2655A>C (p.Gly885=) c.*2369A>C (n.*2369A>C) c.2472A>C (p.Gly824=) c.*955A>C (n.*955A>C) c.*2479A>C (n.*2479A>C) c.2229A>C (p.Gly743=) c.246A>C (p.Gly82=) c.305A>C c.1437A>C (p.Gly479=) c.2565A>C (p.Gly855=) c.2745A>C (p.Gly915=) c.2412A>C (p.Gly804=) | |
7 | g.117602861A>G | CA457227787 | CFTR | c.2655A>G (p.Gly885=) c.*2369A>G (n.*2369A>G) c.2472A>G (p.Gly824=) c.*955A>G (n.*955A>G) c.*2479A>G (n.*2479A>G) c.2229A>G (p.Gly743=) c.246A>G (p.Gly82=) c.305A>G c.1437A>G (p.Gly479=) c.2565A>G (p.Gly855=) c.2745A>G (p.Gly915=) c.2412A>G (p.Gly804=) | |
7 | g.117602861A>T | CA457227789 | CFTR | c.2655A>T (p.Gly885=) c.*2369A>T (n.*2369A>T) c.2472A>T (p.Gly824=) c.*955A>T (n.*955A>T) c.*2479A>T (n.*2479A>T) c.2229A>T (p.Gly743=) c.246A>T (p.Gly82=) c.305A>T c.1437A>T (p.Gly479=) c.2565A>T (p.Gly855=) c.2745A>T (p.Gly915=) c.2412A>T (p.Gly804=) | |
7 | g.117602861_117602876del | CA2695208533 | CFTR | c.2655_2657+13del c.*2369_*2371+13del c.2472_2474+13del c.*955_*957+13del c.*2479_*2481+13del c.2229_2231+13del c.246_248+13del c.305_307+13del c.1437_1439+13del c.2565_2567+13del c.2745_2747+13del c.2412_2414+13del | |
7 | g.117602862A>C | CA368986112 | CFTR | c.2656A>C (p.Asn886His) c.*2370A>C (n.*2370A>C) c.2473A>C (p.Asn825His) c.*956A>C (n.*956A>C) c.*2480A>C (n.*2480A>C) c.2230A>C (p.Asn744His) c.247A>C (p.Asn83His) c.306A>C c.1438A>C (p.Asn480His) c.2566A>C (p.Asn856His) c.2746A>C (p.Asn916His) c.2413A>C (p.Asn805His) | |
7 | g.117602862A>G | CA368986113 | CFTR | c.2656A>G (p.Asn886Asp) c.*2370A>G (n.*2370A>G) c.2473A>G (p.Asn825Asp) c.*956A>G (n.*956A>G) c.*2480A>G (n.*2480A>G) c.2230A>G (p.Asn744Asp) c.247A>G (p.Asn83Asp) c.306A>G c.1438A>G (p.Asn480Asp) c.2566A>G (p.Asn856Asp) c.2746A>G (p.Asn916Asp) c.2413A>G (p.Asn805Asp) | |
7 | g.117602862A>T | CA368986114 | CFTR | c.2656A>T (p.Asn886Tyr) c.*2370A>T (n.*2370A>T) c.2473A>T (p.Asn825Tyr) c.*956A>T (n.*956A>T) c.*2480A>T (n.*2480A>T) c.2230A>T (p.Asn744Tyr) c.247A>T (p.Asn83Tyr) c.306A>T c.1438A>T (p.Asn480Tyr) c.2566A>T (p.Asn856Tyr) c.2746A>T (p.Asn916Tyr) c.2413A>T (p.Asn805Tyr) | |
7 | g.117602863A>C | CA368986116 | CFTR | c.2657A>C (p.Asn886Thr) c.*2371A>C (n.*2371A>C) c.2474A>C (p.Asn825Thr) c.*957A>C (n.*957A>C) c.*2481A>C (n.*2481A>C) c.2231A>C (p.Asn744Thr) c.248A>C (p.Asn83Thr) c.307A>C c.1439A>C (p.Asn480Thr) c.2567A>C (p.Asn856Thr) c.2747A>C (p.Asn916Thr) c.2414A>C (p.Asn805Thr) | |
7 | g.117602863A>G | CA368986119 | CFTR | c.2657A>G (p.Asn886Ser) c.*2371A>G (n.*2371A>G) c.2474A>G (p.Asn825Ser) c.*957A>G (n.*957A>G) c.*2481A>G (n.*2481A>G) c.2231A>G (p.Asn744Ser) c.248A>G (p.Asn83Ser) c.307A>G c.1439A>G (p.Asn480Ser) c.2567A>G (p.Asn856Ser) c.2747A>G (p.Asn916Ser) c.2414A>G (p.Asn805Ser) | |
7 | g.117602863A>T | CA368986122 | CFTR | c.2657A>T (p.Asn886Ile) c.*2371A>T (n.*2371A>T) c.2474A>T (p.Asn825Ile) c.*957A>T (n.*957A>T) c.*2481A>T (n.*2481A>T) c.2231A>T (p.Asn744Ile) c.248A>T (p.Asn83Ile) c.307A>T c.1439A>T (p.Asn480Ile) c.2567A>T (p.Asn856Ile) c.2747A>T (p.Asn916Ile) c.2414A>T (p.Asn805Ile) | |
7 | g.117602864G>A | CA368986126 | CFTR | c.2657+1G>A (n.2657+1G>A) c.*2371+1G>A (n.*2371+1G>A) c.2474+1G>A (n.2474+1G>A) c.*957+1G>A (n.*957+1G>A) c.*2481+1G>A (n.*2481+1G>A) c.2231+1G>A (n.2231+1G>A) c.248+1G>A (n.248+1G>A) c.307+1G>A c.1439+1G>A (n.1439+1G>A) c.2567+1G>A (n.2567+1G>A) c.2747+1G>A (n.2747+1G>A) c.2414+1G>A (n.2414+1G>A) | |
7 | g.117602864G>C | CA368986128 | CFTR | c.2657+1G>C (n.2657+1G>C) c.*2371+1G>C (n.*2371+1G>C) c.2474+1G>C (n.2474+1G>C) c.*957+1G>C (n.*957+1G>C) c.*2481+1G>C (n.*2481+1G>C) c.2231+1G>C (n.2231+1G>C) c.248+1G>C (n.248+1G>C) c.307+1G>C c.1439+1G>C (n.1439+1G>C) c.2567+1G>C (n.2567+1G>C) c.2747+1G>C (n.2747+1G>C) c.2414+1G>C (n.2414+1G>C) |