| 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.117603613T>A | CA326903 | CFTR | c.2739T>A (p.Tyr913Ter) c.*2453T>A (n.*2453T>A) c.2556T>A (p.Tyr852Ter) c.*1039T>A (n.*1039T>A) c.*2563T>A (n.*2563T>A) c.2313T>A (p.Tyr771Ter) c.330T>A (p.Tyr110Ter) c.389T>A c.1521T>A (p.Tyr507Ter) c.2649T>A (p.Tyr883Ter) c.2829T>A (p.Tyr943Ter) c.2496T>A (p.Tyr832Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117603613T>C | CA457227943 | CFTR | c.2739T>C (p.Tyr913=) c.*2453T>C (n.*2453T>C) c.2556T>C (p.Tyr852=) c.*1039T>C (n.*1039T>C) c.*2563T>C (n.*2563T>C) c.2313T>C (p.Tyr771=) c.330T>C (p.Tyr110=) c.389T>C c.1521T>C (p.Tyr507=) c.2649T>C (p.Tyr883=) c.2829T>C (p.Tyr943=) c.2496T>C (p.Tyr832=) | ClinVar dbSNP |
| 7 | g.117603613T>G | CA368986574 | CFTR | c.2739T>G (p.Tyr913Ter) c.*2453T>G (n.*2453T>G) c.2556T>G (p.Tyr852Ter) c.*1039T>G (n.*1039T>G) c.*2563T>G (n.*2563T>G) c.2313T>G (p.Tyr771Ter) c.330T>G (p.Tyr110Ter) c.389T>G c.1521T>G (p.Tyr507Ter) c.2649T>G (p.Tyr883Ter) c.2829T>G (p.Tyr943Ter) c.2496T>G (p.Tyr832Ter) | ClinVar |
| 7 | g.117603613T= | CA1737374723 | CFTR | c.2739T= (p.Tyr913=) c.*2453T= (n.*2453T=) c.2556T= (p.Tyr852=) c.*1039T= (n.*1039T=) c.*2563T= (n.*2563T=) c.2313T= (p.Tyr771=) c.330T= (p.Tyr110=) c.389T= c.1521T= (p.Tyr507=) c.2649T= (p.Tyr883=) c.2829T= (p.Tyr943=) c.2496T= (p.Tyr832=) | |
| 7 | g.117603614T>A | CA368986577 | CFTR | c.2740T>A (p.Tyr914Asn) c.*2454T>A (n.*2454T>A) c.2557T>A (p.Tyr853Asn) c.*1040T>A (n.*1040T>A) c.*2564T>A (n.*2564T>A) c.2314T>A (p.Tyr772Asn) c.331T>A (p.Tyr111Asn) c.390T>A c.1522T>A (p.Tyr508Asn) c.2650T>A (p.Tyr884Asn) c.2830T>A (p.Tyr944Asn) c.2497T>A (p.Tyr833Asn) | |
| 7 | g.117603614T>C | CA368986579 | CFTR | c.2740T>C (p.Tyr914His) c.*2454T>C (n.*2454T>C) c.2557T>C (p.Tyr853His) c.*1040T>C (n.*1040T>C) c.*2564T>C (n.*2564T>C) c.2314T>C (p.Tyr772His) c.331T>C (p.Tyr111His) c.390T>C c.1522T>C (p.Tyr508His) c.2650T>C (p.Tyr884His) c.2830T>C (p.Tyr944His) c.2497T>C (p.Tyr833His) | |
| 7 | g.117603614T>G | CA368986582 | CFTR | c.2740T>G (p.Tyr914Asp) c.*2454T>G (n.*2454T>G) c.2557T>G (p.Tyr853Asp) c.*1040T>G (n.*1040T>G) c.*2564T>G (n.*2564T>G) c.2314T>G (p.Tyr772Asp) c.331T>G (p.Tyr111Asp) c.390T>G c.1522T>G (p.Tyr508Asp) c.2650T>G (p.Tyr884Asp) c.2830T>G (p.Tyr944Asp) c.2497T>G (p.Tyr833Asp) | |
| 7 | g.117603615A>C | CA368986584 | CFTR | c.2741A>C (p.Tyr914Ser) c.*2455A>C (n.*2455A>C) c.2558A>C (p.Tyr853Ser) c.*1041A>C (n.*1041A>C) c.*2565A>C (n.*2565A>C) c.2315A>C (p.Tyr772Ser) c.332A>C (p.Tyr111Ser) c.391A>C c.1523A>C (p.Tyr508Ser) c.2651A>C (p.Tyr884Ser) c.2831A>C (p.Tyr944Ser) c.2498A>C (p.Tyr833Ser) | |
| 7 | g.117603615A>G | CA368986585 | CFTR | c.2741A>G (p.Tyr914Cys) c.*2455A>G (n.*2455A>G) c.2558A>G (p.Tyr853Cys) c.*1041A>G (n.*1041A>G) c.*2565A>G (n.*2565A>G) c.2315A>G (p.Tyr772Cys) c.332A>G (p.Tyr111Cys) c.391A>G c.1523A>G (p.Tyr508Cys) c.2651A>G (p.Tyr884Cys) c.2831A>G (p.Tyr944Cys) c.2498A>G (p.Tyr833Cys) | |
| 7 | g.117603615A>T | CA368986588 | CFTR | c.2741A>T (p.Tyr914Phe) c.*2455A>T (n.*2455A>T) c.2558A>T (p.Tyr853Phe) c.*1041A>T (n.*1041A>T) c.*2565A>T (n.*2565A>T) c.2315A>T (p.Tyr772Phe) c.332A>T (p.Tyr111Phe) c.391A>T c.1523A>T (p.Tyr508Phe) c.2651A>T (p.Tyr884Phe) c.2831A>T (p.Tyr944Phe) c.2498A>T (p.Tyr833Phe) | |
| 7 | g.117603616T>A | CA368986596 | CFTR | c.2742T>A (p.Tyr914Ter) c.*2456T>A (n.*2456T>A) c.2559T>A (p.Tyr853Ter) c.*1042T>A (n.*1042T>A) c.*2566T>A (n.*2566T>A) c.2316T>A (p.Tyr772Ter) c.333T>A (p.Tyr111Ter) c.392T>A c.1524T>A (p.Tyr508Ter) c.2652T>A (p.Tyr884Ter) c.2832T>A (p.Tyr944Ter) c.2499T>A (p.Tyr833Ter) | |
| 7 | g.117603616T>C | CA164960091 | CFTR | c.2742T>C (p.Tyr914=) c.*2456T>C (n.*2456T>C) c.2559T>C (p.Tyr853=) c.*1042T>C (n.*1042T>C) c.*2566T>C (n.*2566T>C) c.2316T>C (p.Tyr772=) c.333T>C (p.Tyr111=) c.392T>C c.1524T>C (p.Tyr508=) c.2652T>C (p.Tyr884=) c.2832T>C (p.Tyr944=) c.2499T>C (p.Tyr833=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117603616T>G | CA368986592 | CFTR | c.2742T>G (p.Tyr914Ter) c.*2456T>G (n.*2456T>G) c.2559T>G (p.Tyr853Ter) c.*1042T>G (n.*1042T>G) c.*2566T>G (n.*2566T>G) c.2316T>G (p.Tyr772Ter) c.333T>G (p.Tyr111Ter) c.392T>G c.1524T>G (p.Tyr508Ter) c.2652T>G (p.Tyr884Ter) c.2832T>G (p.Tyr944Ter) c.2499T>G (p.Tyr833Ter) | ClinVar |
| 7 | g.117603616T= | CA1737374735 | CFTR | c.2742T= (p.Tyr914=) c.*2456T= (n.*2456T=) c.2559T= (p.Tyr853=) c.*1042T= (n.*1042T=) c.*2566T= (n.*2566T=) c.2316T= (p.Tyr772=) c.333T= (p.Tyr111=) c.392T= c.1524T= (p.Tyr508=) c.2652T= (p.Tyr884=) c.2832T= (p.Tyr944=) c.2499T= (p.Tyr833=) | |
| 7 | g.117603617G>A | CA368986600 | CFTR | c.2743G>A (p.Val915Met) c.*2457G>A (n.*2457G>A) c.2560G>A (p.Val854Met) c.*1043G>A (n.*1043G>A) c.*2567G>A (n.*2567G>A) c.2317G>A (p.Val773Met) c.334G>A (p.Val112Met) c.393G>A c.1525G>A (p.Val509Met) c.2653G>A (p.Val885Met) c.2833G>A (p.Val945Met) c.2500G>A (p.Val834Met) | |
| 7 | g.117603617G>C | CA4451282 | CFTR | c.2743G>C (p.Val915Leu) c.*2457G>C (n.*2457G>C) c.2560G>C (p.Val854Leu) c.*1043G>C (n.*1043G>C) c.*2567G>C (n.*2567G>C) c.2317G>C (p.Val773Leu) c.334G>C (p.Val112Leu) c.393G>C c.1525G>C (p.Val509Leu) c.2653G>C (p.Val885Leu) c.2833G>C (p.Val945Leu) c.2500G>C (p.Val834Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117603617G= | CA1737374746 | CFTR | c.2743G= (p.Val915=) c.*2457G= (n.*2457G=) c.2560G= (p.Val854=) c.*1043G= (n.*1043G=) c.*2567G= (n.*2567G=) c.2317G= (p.Val773=) c.334G= (p.Val112=) c.393G= c.1525G= (p.Val509=) c.2653G= (p.Val885=) c.2833G= (p.Val945=) c.2500G= (p.Val834=) | |
| 7 | g.117603617G>T | CA368986603 | CFTR | c.2743G>T (p.Val915Leu) c.*2457G>T (n.*2457G>T) c.2560G>T (p.Val854Leu) c.*1043G>T (n.*1043G>T) c.*2567G>T (n.*2567G>T) c.2317G>T (p.Val773Leu) c.334G>T (p.Val112Leu) c.393G>T c.1525G>T (p.Val509Leu) c.2653G>T (p.Val885Leu) c.2833G>T (p.Val945Leu) c.2500G>T (p.Val834Leu) | |
| 7 | g.117603617_117603619delinsA | CA2580076338 | CFTR | c.2743_2745delinsA (p.Val915IlefsTer?) c.*2457_*2459delinsA (n.*2457_*2459delinsA) c.2560_2562delinsA (p.Val854IlefsTer?) c.*1043_*1045delinsA (n.*1043_*1045delinsA) c.*2567_*2569delinsA (n.*2567_*2569delinsA) c.2317_2319delinsA (p.Val773IlefsTer?) c.334_336delinsA (p.Val112IlefsTer?) c.393_395delinsA c.1525_1527delinsA (p.Val509IlefsTer?) c.2653_2655delinsA (p.Val885IlefsTer?) c.2833_2835delinsA (p.Val945IlefsTer?) c.2500_2502delinsA (p.Val834IlefsTer?) | ClinVar |
| 7 | g.117603618T>A | CA368986612 | CFTR | c.2744T>A (p.Val915Glu) c.*2458T>A (n.*2458T>A) c.2561T>A (p.Val854Glu) c.*1044T>A (n.*1044T>A) c.*2568T>A (n.*2568T>A) c.2318T>A (p.Val773Glu) c.335T>A (p.Val112Glu) c.394T>A c.1526T>A (p.Val509Glu) c.2654T>A (p.Val885Glu) c.2834T>A (p.Val945Glu) c.2501T>A (p.Val834Glu) | |
| 7 | g.117603618T>C | CA368986615 | CFTR | c.2744T>C (p.Val915Ala) c.*2458T>C (n.*2458T>C) c.2561T>C (p.Val854Ala) c.*1044T>C (n.*1044T>C) c.*2568T>C (n.*2568T>C) c.2318T>C (p.Val773Ala) c.335T>C (p.Val112Ala) c.394T>C c.1526T>C (p.Val509Ala) c.2654T>C (p.Val885Ala) c.2834T>C (p.Val945Ala) c.2501T>C (p.Val834Ala) | |
| 7 | g.117603618T>G | CA368986616 | CFTR | c.2744T>G (p.Val915Gly) c.*2458T>G (n.*2458T>G) c.2561T>G (p.Val854Gly) c.*1044T>G (n.*1044T>G) c.*2568T>G (n.*2568T>G) c.2318T>G (p.Val773Gly) c.335T>G (p.Val112Gly) c.394T>G c.1526T>G (p.Val509Gly) c.2654T>G (p.Val885Gly) c.2834T>G (p.Val945Gly) c.2501T>G (p.Val834Gly) | |
| 7 | g.117603619G>A | CA457227944 | CFTR | c.2745G>A (p.Val915=) c.*2459G>A (n.*2459G>A) c.2562G>A (p.Val854=) c.*1045G>A (n.*1045G>A) c.*2569G>A (n.*2569G>A) c.2319G>A (p.Val773=) c.336G>A (p.Val112=) c.395G>A c.1527G>A (p.Val509=) c.2655G>A (p.Val885=) c.2835G>A (p.Val945=) c.2502G>A (p.Val834=) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117603619G>C | CA457227945 | CFTR | c.2745G>C (p.Val915=) c.*2459G>C (n.*2459G>C) c.2562G>C (p.Val854=) c.*1045G>C (n.*1045G>C) c.*2569G>C (n.*2569G>C) c.2319G>C (p.Val773=) c.336G>C (p.Val112=) c.395G>C c.1527G>C (p.Val509=) c.2655G>C (p.Val885=) c.2835G>C (p.Val945=) c.2502G>C (p.Val834=) | |
| 7 | g.117603619G= | CA1737374753 | CFTR | c.2745G= (p.Val915=) c.*2459G= (n.*2459G=) c.2562G= (p.Val854=) c.*1045G= (n.*1045G=) c.*2569G= (n.*2569G=) c.2319G= (p.Val773=) c.336G= (p.Val112=) c.395G= c.1527G= (p.Val509=) c.2655G= (p.Val885=) c.2835G= (p.Val945=) c.2502G= (p.Val834=) | |
| 7 | g.117603619G>T | CA457227946 | CFTR | c.2745G>T (p.Val915=) c.*2459G>T (n.*2459G>T) c.2562G>T (p.Val854=) c.*1045G>T (n.*1045G>T) c.*2569G>T (n.*2569G>T) c.2319G>T (p.Val773=) c.336G>T (p.Val112=) c.395G>T c.1527G>T (p.Val509=) c.2655G>T (p.Val885=) c.2835G>T (p.Val945=) c.2502G>T (p.Val834=) | |
| 7 | g.117603620T>A | CA368986621 | CFTR | c.2746T>A (p.Phe916Ile) c.*2460T>A (n.*2460T>A) c.2563T>A (p.Phe855Ile) c.*1046T>A (n.*1046T>A) c.*2570T>A (n.*2570T>A) c.2320T>A (p.Phe774Ile) c.337T>A (p.Phe113Ile) c.396T>A c.1528T>A (p.Phe510Ile) c.2656T>A (p.Phe886Ile) c.2836T>A (p.Phe946Ile) c.2503T>A (p.Phe835Ile) | COSMIC |
| 7 | g.117603620T>C | CA368986618 | CFTR | c.2746T>C (p.Phe916Leu) c.*2460T>C (n.*2460T>C) c.2563T>C (p.Phe855Leu) c.*1046T>C (n.*1046T>C) c.*2570T>C (n.*2570T>C) c.2320T>C (p.Phe774Leu) c.337T>C (p.Phe113Leu) c.396T>C c.1528T>C (p.Phe510Leu) c.2656T>C (p.Phe886Leu) c.2836T>C (p.Phe946Leu) c.2503T>C (p.Phe835Leu) | |
| 7 | g.117603620T>G | CA368986619 | CFTR | c.2746T>G (p.Phe916Val) c.*2460T>G (n.*2460T>G) c.2563T>G (p.Phe855Val) c.*1046T>G (n.*1046T>G) c.*2570T>G (n.*2570T>G) c.2320T>G (p.Phe774Val) c.337T>G (p.Phe113Val) c.396T>G c.1528T>G (p.Phe510Val) c.2656T>G (p.Phe886Val) c.2836T>G (p.Phe946Val) c.2503T>G (p.Phe835Val) | |
| 7 | g.117603621T>A | CA368986622 | CFTR | c.2747T>A (p.Phe916Tyr) c.*2461T>A (n.*2461T>A) c.2564T>A (p.Phe855Tyr) c.*1047T>A (n.*1047T>A) c.*2571T>A (n.*2571T>A) c.2321T>A (p.Phe774Tyr) c.338T>A (p.Phe113Tyr) c.397T>A c.1529T>A (p.Phe510Tyr) c.2657T>A (p.Phe886Tyr) c.2837T>A (p.Phe946Tyr) c.2504T>A (p.Phe835Tyr) | COSMIC |
| 7 | g.117603621T>C | CA368986623 | CFTR | c.2747T>C (p.Phe916Ser) c.*2461T>C (n.*2461T>C) c.2564T>C (p.Phe855Ser) c.*1047T>C (n.*1047T>C) c.*2571T>C (n.*2571T>C) c.2321T>C (p.Phe774Ser) c.338T>C (p.Phe113Ser) c.397T>C c.1529T>C (p.Phe510Ser) c.2657T>C (p.Phe886Ser) c.2837T>C (p.Phe946Ser) c.2504T>C (p.Phe835Ser) | |
| 7 | g.117603621T>G | CA368986624 | CFTR | c.2747T>G (p.Phe916Cys) c.*2461T>G (n.*2461T>G) c.2564T>G (p.Phe855Cys) c.*1047T>G (n.*1047T>G) c.*2571T>G (n.*2571T>G) c.2321T>G (p.Phe774Cys) c.338T>G (p.Phe113Cys) c.397T>G c.1529T>G (p.Phe510Cys) c.2657T>G (p.Phe886Cys) c.2837T>G (p.Phe946Cys) c.2504T>G (p.Phe835Cys) | |
| 7 | g.117603622T>A | CA368986627 | CFTR | c.2748T>A (p.Phe916Leu) c.*2462T>A (n.*2462T>A) c.2565T>A (p.Phe855Leu) c.*1048T>A (n.*1048T>A) c.*2572T>A (n.*2572T>A) c.2322T>A (p.Phe774Leu) c.339T>A (p.Phe113Leu) c.398T>A c.1530T>A (p.Phe510Leu) c.2658T>A (p.Phe886Leu) c.2838T>A (p.Phe946Leu) c.2505T>A (p.Phe835Leu) | |
| 7 | g.117603622T>C | CA457227947 | CFTR | c.2748T>C (p.Phe916=) c.*2462T>C (n.*2462T>C) c.2565T>C (p.Phe855=) c.*1048T>C (n.*1048T>C) c.*2572T>C (n.*2572T>C) c.2322T>C (p.Phe774=) c.339T>C (p.Phe113=) c.398T>C c.1530T>C (p.Phe510=) c.2658T>C (p.Phe886=) c.2838T>C (p.Phe946=) c.2505T>C (p.Phe835=) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117603622T>G | CA368986628 | CFTR | c.2748T>G (p.Phe916Leu) c.*2462T>G (n.*2462T>G) c.2565T>G (p.Phe855Leu) c.*1048T>G (n.*1048T>G) c.*2572T>G (n.*2572T>G) c.2322T>G (p.Phe774Leu) c.339T>G (p.Phe113Leu) c.398T>G c.1530T>G (p.Phe510Leu) c.2658T>G (p.Phe886Leu) c.2838T>G (p.Phe946Leu) c.2505T>G (p.Phe835Leu) | |
| 7 | g.117603622T= | CA1737374756 | CFTR | c.2748T= (p.Phe916=) c.*2462T= (n.*2462T=) c.2565T= (p.Phe855=) c.*1048T= (n.*1048T=) c.*2572T= (n.*2572T=) c.2322T= (p.Phe774=) c.339T= (p.Phe113=) c.398T= c.1530T= (p.Phe510=) c.2658T= (p.Phe886=) c.2838T= (p.Phe946=) c.2505T= (p.Phe835=) | |
| 7 | g.117603623T>A | CA368986630 | CFTR | c.2749T>A (p.Tyr917Asn) c.*2463T>A (n.*2463T>A) c.2566T>A (p.Tyr856Asn) c.*1049T>A (n.*1049T>A) c.*2573T>A (n.*2573T>A) c.2323T>A (p.Tyr775Asn) c.340T>A (p.Tyr114Asn) c.399T>A c.1531T>A (p.Tyr511Asn) c.2659T>A (p.Tyr887Asn) c.2839T>A (p.Tyr947Asn) c.2506T>A (p.Tyr836Asn) | |
| 7 | g.117603623T>C | CA368986629 | CFTR | c.2749T>C (p.Tyr917His) c.*2463T>C (n.*2463T>C) c.2566T>C (p.Tyr856His) c.*1049T>C (n.*1049T>C) c.*2573T>C (n.*2573T>C) c.2323T>C (p.Tyr775His) c.340T>C (p.Tyr114His) c.399T>C c.1531T>C (p.Tyr511His) c.2659T>C (p.Tyr887His) c.2839T>C (p.Tyr947His) c.2506T>C (p.Tyr836His) | gnomAD v4 |
| 7 | g.117603623T>G | CA326909 | CFTR | c.2749T>G (p.Tyr917Asp) c.*2463T>G (n.*2463T>G) c.2566T>G (p.Tyr856Asp) c.*1049T>G (n.*1049T>G) c.*2573T>G (n.*2573T>G) c.2323T>G (p.Tyr775Asp) c.340T>G (p.Tyr114Asp) c.399T>G c.1531T>G (p.Tyr511Asp) c.2659T>G (p.Tyr887Asp) c.2839T>G (p.Tyr947Asp) c.2506T>G (p.Tyr836Asp) | dbSNP |
| 7 | g.117603623T= | CA1737374759 | CFTR | c.2749T= (p.Tyr917=) c.*2463T= (n.*2463T=) c.2566T= (p.Tyr856=) c.*1049T= (n.*1049T=) c.*2573T= (n.*2573T=) c.2323T= (p.Tyr775=) c.340T= (p.Tyr114=) c.399T= c.1531T= (p.Tyr511=) c.2659T= (p.Tyr887=) c.2839T= (p.Tyr947=) c.2506T= (p.Tyr836=) | |
| 7 | g.117603624A= | CA1737374762 | CFTR | c.2750A= (p.Tyr917=) c.*2464A= (n.*2464A=) c.2567A= (p.Tyr856=) c.*1050A= (n.*1050A=) c.*2574A= (n.*2574A=) c.2324A= (p.Tyr775=) c.341A= (p.Tyr114=) c.400A= c.1532A= (p.Tyr511=) c.2660A= (p.Tyr887=) c.2840A= (p.Tyr947=) c.2507A= (p.Tyr836=) | |
| 7 | g.117603624A>C | CA368986631 | CFTR | c.2750A>C (p.Tyr917Ser) c.*2464A>C (n.*2464A>C) c.2567A>C (p.Tyr856Ser) c.*1050A>C (n.*1050A>C) c.*2574A>C (n.*2574A>C) c.2324A>C (p.Tyr775Ser) c.341A>C (p.Tyr114Ser) c.400A>C c.1532A>C (p.Tyr511Ser) c.2660A>C (p.Tyr887Ser) c.2840A>C (p.Tyr947Ser) c.2507A>C (p.Tyr836Ser) | |
| 7 | g.117603624A>G | CA326911 | CFTR | c.2750A>G (p.Tyr917Cys) c.*2464A>G (n.*2464A>G) c.2567A>G (p.Tyr856Cys) c.*1050A>G (n.*1050A>G) c.*2574A>G (n.*2574A>G) c.2324A>G (p.Tyr775Cys) c.341A>G (p.Tyr114Cys) c.400A>G c.1532A>G (p.Tyr511Cys) c.2660A>G (p.Tyr887Cys) c.2840A>G (p.Tyr947Cys) c.2507A>G (p.Tyr836Cys) | ClinVar dbSNP |
| 7 | g.117603624A>T | CA368986633 | CFTR | c.2750A>T (p.Tyr917Phe) c.*2464A>T (n.*2464A>T) c.2567A>T (p.Tyr856Phe) c.*1050A>T (n.*1050A>T) c.*2574A>T (n.*2574A>T) c.2324A>T (p.Tyr775Phe) c.341A>T (p.Tyr114Phe) c.400A>T c.1532A>T (p.Tyr511Phe) c.2660A>T (p.Tyr887Phe) c.2840A>T (p.Tyr947Phe) c.2507A>T (p.Tyr836Phe) | |
| 7 | g.117603624_117603625insTTTTAGATATAGGAT | CA2562823202 | CFTR | c.2750_2751insTTTTAGATATAGGAT (p.Tyr917_Ile918insPheArgTyrArgIle) c.*2464_*2465insTTTTAGATATAGGAT (n.*2464_*2465insTTTTAGATATAGGAT) c.2567_2568insTTTTAGATATAGGAT (p.Tyr856_Ile857insPheArgTyrArgIle) c.*1050_*1051insTTTTAGATATAGGAT (n.*1050_*1051insTTTTAGATATAGGAT) c.*2574_*2575insTTTTAGATATAGGAT (n.*2574_*2575insTTTTAGATATAGGAT) c.2324_2325insTTTTAGATATAGGAT (p.Tyr775_Ile776insPheArgTyrArgIle) c.341_342insTTTTAGATATAGGAT (p.Tyr114_Ile115insPheArgTyrArgIle) c.400_401insTTTTAGATATAGGAT c.1532_1533insTTTTAGATATAGGAT (p.Tyr511_Ile512insPheArgTyrArgIle) c.2660_2661insTTTTAGATATAGGAT (p.Tyr887_Ile888insPheArgTyrArgIle) c.2840_2841insTTTTAGATATAGGAT (p.Tyr947_Ile948insPheArgTyrArgIle) c.2507_2508insTTTTAGATATAGGAT (p.Tyr836_Ile837insPheArgTyrArgIle) | |
| 7 | g.117603625C>A | CA368986636 | CFTR | c.2751C>A (p.Tyr917Ter) c.*2465C>A (n.*2465C>A) c.2568C>A (p.Tyr856Ter) c.*1051C>A (n.*1051C>A) c.*2575C>A (n.*2575C>A) c.2325C>A (p.Tyr775Ter) c.342C>A (p.Tyr114Ter) c.401C>A c.1533C>A (p.Tyr511Ter) c.2661C>A (p.Tyr887Ter) c.2841C>A (p.Tyr947Ter) c.2508C>A (p.Tyr836Ter) | |
| 7 | g.117603625C= | CA1737374767 | CFTR | c.2751C= (p.Tyr917=) c.*2465C= (n.*2465C=) c.2568C= (p.Tyr856=) c.*1051C= (n.*1051C=) c.*2575C= (n.*2575C=) c.2325C= (p.Tyr775=) c.342C= (p.Tyr114=) c.401C= c.1533C= (p.Tyr511=) c.2661C= (p.Tyr887=) c.2841C= (p.Tyr947=) c.2508C= (p.Tyr836=) | |
| 7 | g.117603625C>G | CA368986638 | CFTR | c.2751C>G (p.Tyr917Ter) c.*2465C>G (n.*2465C>G) c.2568C>G (p.Tyr856Ter) c.*1051C>G (n.*1051C>G) c.*2575C>G (n.*2575C>G) c.2325C>G (p.Tyr775Ter) c.342C>G (p.Tyr114Ter) c.401C>G c.1533C>G (p.Tyr511Ter) c.2661C>G (p.Tyr887Ter) c.2841C>G (p.Tyr947Ter) c.2508C>G (p.Tyr836Ter) |