| 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.117603732_117603764delinsTACATTCTGTTCTTCAAGCACCTATGTCAACCC | CA1737375406 | CFTR | c.2858_2890delinsTACATTCTGTTCTTCAAGCACCTATGTCAACCC (p.Leu953=) c.*2572_*2604delinsTACATTCTGTTCTTCAAGCACCTATGTCAACCC (n.*2572_*2604delinsTACATTCTGTTCTTCAAGCACCTATGTCAACCC) c.2675_2707delinsTACATTCTGTTCTTCAAGCACCTATGTCAACCC (p.Leu892=) c.*1158_*1190delinsTACATTCTGTTCTTCAAGCACCTATGTCAACCC (n.*1158_*1190delinsTACATTCTGTTCTTCAAGCACCTATGTCAACCC) c.*2682_*2714delinsTACATTCTGTTCTTCAAGCACCTATGTCAACCC (n.*2682_*2714delinsTACATTCTGTTCTTCAAGCACCTATGTCAACCC) c.2432_2464delinsTACATTCTGTTCTTCAAGCACCTATGTCAACCC (p.Leu811=) c.449_481delinsTACATTCTGTTCTTCAAGCACCTATGTCAACCC (p.Leu150=) c.508_540delinsTACATTCTGTTCTTCAAGCACCTATGTCAACCC c.1640_1672delinsTACATTCTGTTCTTCAAGCACCTATGTCAACCC (p.Leu547=) c.2768_2800delinsTACATTCTGTTCTTCAAGCACCTATGTCAACCC (p.Leu923=) c.2948_2980delinsTACATTCTGTTCTTCAAGCACCTATGTCAACCC (p.Leu983=) c.2615_2647delinsTACATTCTGTTCTTCAAGCACCTATGTCAACCC (p.Leu872=) | |
| 7 | g.117603733_117603764del | CA326947 | CFTR | c.2859_2890del (p.Leu953PhefsTer11) c.*2573_*2604del (n.*2573_*2604del) c.2676_2707del (p.Leu892PhefsTer11) c.*1159_*1190del (n.*1159_*1190del) c.*2683_*2714del (n.*2683_*2714del) c.2433_2464del (p.Leu811PhefsTer11) c.450_481del (p.Leu150PhefsTer11) c.509_540del c.1641_1672del (p.Leu547PhefsTer11) c.2769_2800del (p.Leu923PhefsTer11) c.2949_2980del (p.Leu983PhefsTer11) c.2616_2647del (p.Leu872PhefsTer11) | ClinVar dbSNP gnomAD v2 |
| 7 | g.117603733_117603767delinsTCAAG | CA2580617913 | CFTR | c.2859_2893delinsTCAAG (p.Leu953_Asn965delinsPheGlnAsp) c.*2573_*2607delinsTCAAG (n.*2573_*2607delinsTCAAG) c.2676_2710delinsTCAAG (p.Leu892_Asn904delinsPheGlnAsp) c.*1159_*1193delinsTCAAG (n.*1159_*1193delinsTCAAG) c.*2683_*2717delinsTCAAG (n.*2683_*2717delinsTCAAG) c.2433_2467delinsTCAAG (p.Leu811_Asn823delinsPheGlnAsp) c.450_484delinsTCAAG (p.Leu150_Asn162delinsPheGlnAsp) c.509_543delinsTCAAG c.1641_1675delinsTCAAG (p.Leu547_Asn559delinsPheGlnAsp) c.2769_2803delinsTCAAG (p.Leu923_Asn935delinsPheGlnAsp) c.2949_2983delinsTCAAG (p.Leu983_Asn995delinsPheGlnAsp) c.2616_2650delinsTCAAG (p.Leu872_Asn884delinsPheGlnAsp) | ClinVar |
| 7 | g.117603740G>A | CA368987397 | CFTR | c.2866G>A (p.Val956Ile) c.*2580G>A (n.*2580G>A) c.2683G>A (p.Val895Ile) c.*1166G>A (n.*1166G>A) c.*2690G>A (n.*2690G>A) c.2440G>A (p.Val814Ile) c.457G>A (p.Val153Ile) c.516G>A c.1648G>A (p.Val550Ile) c.2776G>A (p.Val926Ile) c.2956G>A (p.Val986Ile) c.2623G>A (p.Val875Ile) | |
| 7 | g.117603740G>C | CA4451303 | CFTR | c.2866G>C (p.Val956Leu) c.*2580G>C (n.*2580G>C) c.2683G>C (p.Val895Leu) c.*1166G>C (n.*1166G>C) c.*2690G>C (n.*2690G>C) c.2440G>C (p.Val814Leu) c.457G>C (p.Val153Leu) c.516G>C c.1648G>C (p.Val550Leu) c.2776G>C (p.Val926Leu) c.2956G>C (p.Val986Leu) c.2623G>C (p.Val875Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117603740G= | CA1737375451 | CFTR | c.2866G= (p.Val956=) c.*2580G= (n.*2580G=) c.2683G= (p.Val895=) c.*1166G= (n.*1166G=) c.*2690G= (n.*2690G=) c.2440G= (p.Val814=) c.457G= (p.Val153=) c.516G= c.1648G= (p.Val550=) c.2776G= (p.Val926=) c.2956G= (p.Val986=) c.2623G= (p.Val875=) | |
| 7 | g.117603740G>T | CA368987399 | CFTR | c.2866G>T (p.Val956Phe) c.*2580G>T (n.*2580G>T) c.2683G>T (p.Val895Phe) c.*1166G>T (n.*1166G>T) c.*2690G>T (n.*2690G>T) c.2440G>T (p.Val814Phe) c.457G>T (p.Val153Phe) c.516G>T c.1648G>T (p.Val550Phe) c.2776G>T (p.Val926Phe) c.2956G>T (p.Val986Phe) c.2623G>T (p.Val875Phe) | |
| 7 | g.117603741T>A | CA368987401 | CFTR | c.2867T>A (p.Val956Asp) c.*2581T>A (n.*2581T>A) c.2684T>A (p.Val895Asp) c.*1167T>A (n.*1167T>A) c.*2691T>A (n.*2691T>A) c.2441T>A (p.Val814Asp) c.458T>A (p.Val153Asp) c.517T>A c.1649T>A (p.Val550Asp) c.2777T>A (p.Val926Asp) c.2957T>A (p.Val986Asp) c.2624T>A (p.Val875Asp) | |
| 7 | g.117603741T>C | CA368987403 | CFTR | c.2867T>C (p.Val956Ala) c.*2581T>C (n.*2581T>C) c.2684T>C (p.Val895Ala) c.*1167T>C (n.*1167T>C) c.*2691T>C (n.*2691T>C) c.2441T>C (p.Val814Ala) c.458T>C (p.Val153Ala) c.517T>C c.1649T>C (p.Val550Ala) c.2777T>C (p.Val926Ala) c.2957T>C (p.Val986Ala) c.2624T>C (p.Val875Ala) | |
| 7 | g.117603741T>G | CA368987406 | CFTR | c.2867T>G (p.Val956Gly) c.*2581T>G (n.*2581T>G) c.2684T>G (p.Val895Gly) c.*1167T>G (n.*1167T>G) c.*2691T>G (n.*2691T>G) c.2441T>G (p.Val814Gly) c.458T>G (p.Val153Gly) c.517T>G c.1649T>G (p.Val550Gly) c.2777T>G (p.Val926Gly) c.2957T>G (p.Val986Gly) c.2624T>G (p.Val875Gly) | |
| 7 | g.117603742T>A | CA457228024 | CFTR | c.2868T>A (p.Val956=) c.*2582T>A (n.*2582T>A) c.2685T>A (p.Val895=) c.*1168T>A (n.*1168T>A) c.*2692T>A (n.*2692T>A) c.2442T>A (p.Val814=) c.459T>A (p.Val153=) c.518T>A c.1650T>A (p.Val550=) c.2778T>A (p.Val926=) c.2958T>A (p.Val986=) c.2625T>A (p.Val875=) | |
| 7 | g.117603742T>C | CA457228025 | CFTR | c.2868T>C (p.Val956=) c.*2582T>C (n.*2582T>C) c.2685T>C (p.Val895=) c.*1168T>C (n.*1168T>C) c.*2692T>C (n.*2692T>C) c.2442T>C (p.Val814=) c.459T>C (p.Val153=) c.518T>C c.1650T>C (p.Val550=) c.2778T>C (p.Val926=) c.2958T>C (p.Val986=) c.2625T>C (p.Val875=) | |
| 7 | g.117603742T>G | CA457228026 | CFTR | c.2868T>G (p.Val956=) c.*2582T>G (n.*2582T>G) c.2685T>G (p.Val895=) c.*1168T>G (n.*1168T>G) c.*2692T>G (n.*2692T>G) c.2442T>G (p.Val814=) c.459T>G (p.Val153=) c.518T>G c.1650T>G (p.Val550=) c.2778T>G (p.Val926=) c.2958T>G (p.Val986=) c.2625T>G (p.Val875=) | |
| 7 | g.117603743del | CA2695208423 | CFTR | c.2869del (p.Leu957PhefsTer11) c.*2583del (n.*2583del) c.2686del (p.Leu896PhefsTer11) c.*1169del (n.*1169del) c.*2693del (n.*2693del) c.2443del (p.Leu815PhefsTer11) c.460del (p.Leu154PhefsTer11) c.519del c.1651del (p.Leu551PhefsTer11) c.2779del (p.Leu927PhefsTer11) c.2959del (p.Leu987PhefsTer11) c.2626del (p.Leu876PhefsTer11) | |
| 7 | g.117603743C>A | CA368987410 | CFTR | c.2869C>A (p.Leu957Ile) c.*2583C>A (n.*2583C>A) c.2686C>A (p.Leu896Ile) c.*1169C>A (n.*1169C>A) c.*2693C>A (n.*2693C>A) c.2443C>A (p.Leu815Ile) c.460C>A (p.Leu154Ile) c.519C>A c.1651C>A (p.Leu551Ile) c.2779C>A (p.Leu927Ile) c.2959C>A (p.Leu987Ile) c.2626C>A (p.Leu876Ile) | |
| 7 | g.117603743C>G | CA368987412 | CFTR | c.2869C>G (p.Leu957Val) c.*2583C>G (n.*2583C>G) c.2686C>G (p.Leu896Val) c.*1169C>G (n.*1169C>G) c.*2693C>G (n.*2693C>G) c.2443C>G (p.Leu815Val) c.460C>G (p.Leu154Val) c.519C>G c.1651C>G (p.Leu551Val) c.2779C>G (p.Leu927Val) c.2959C>G (p.Leu987Val) c.2626C>G (p.Leu876Val) | |
| 7 | g.117603743C>T | CA368987416 | CFTR | c.2869C>T (p.Leu957Phe) c.*2583C>T (n.*2583C>T) c.2686C>T (p.Leu896Phe) c.*1169C>T (n.*1169C>T) c.*2693C>T (n.*2693C>T) c.2443C>T (p.Leu815Phe) c.460C>T (p.Leu154Phe) c.519C>T c.1651C>T (p.Leu551Phe) c.2779C>T (p.Leu927Phe) c.2959C>T (p.Leu987Phe) c.2626C>T (p.Leu876Phe) | COSMIC |
| 7 | g.117603744T>A | CA368987421 | CFTR | c.2870T>A (p.Leu957His) c.*2584T>A (n.*2584T>A) c.2687T>A (p.Leu896His) c.*1170T>A (n.*1170T>A) c.*2694T>A (n.*2694T>A) c.2444T>A (p.Leu815His) c.461T>A (p.Leu154His) c.520T>A c.1652T>A (p.Leu551His) c.2780T>A (p.Leu927His) c.2960T>A (p.Leu987His) c.2627T>A (p.Leu876His) | |
| 7 | g.117603744T>C | CA368987427 | CFTR | c.2870T>C (p.Leu957Pro) c.*2584T>C (n.*2584T>C) c.2687T>C (p.Leu896Pro) c.*1170T>C (n.*1170T>C) c.*2694T>C (n.*2694T>C) c.2444T>C (p.Leu815Pro) c.461T>C (p.Leu154Pro) c.520T>C c.1652T>C (p.Leu551Pro) c.2780T>C (p.Leu927Pro) c.2960T>C (p.Leu987Pro) c.2627T>C (p.Leu876Pro) | |
| 7 | g.117603744T>G | CA368987430 | CFTR | c.2870T>G (p.Leu957Arg) c.*2584T>G (n.*2584T>G) c.2687T>G (p.Leu896Arg) c.*1170T>G (n.*1170T>G) c.*2694T>G (n.*2694T>G) c.2444T>G (p.Leu815Arg) c.461T>G (p.Leu154Arg) c.520T>G c.1652T>G (p.Leu551Arg) c.2780T>G (p.Leu927Arg) c.2960T>G (p.Leu987Arg) c.2627T>G (p.Leu876Arg) | |
| 7 | g.117603745T>A | CA457228027 | CFTR | c.2871T>A (p.Leu957=) c.*2585T>A (n.*2585T>A) c.2688T>A (p.Leu896=) c.*1171T>A (n.*1171T>A) c.*2695T>A (n.*2695T>A) c.2445T>A (p.Leu815=) c.462T>A (p.Leu154=) c.521T>A c.1653T>A (p.Leu551=) c.2781T>A (p.Leu927=) c.2961T>A (p.Leu987=) c.2628T>A (p.Leu876=) | |
| 7 | g.117603745T>C | CA457228028 | CFTR | c.2871T>C (p.Leu957=) c.*2585T>C (n.*2585T>C) c.2688T>C (p.Leu896=) c.*1171T>C (n.*1171T>C) c.*2695T>C (n.*2695T>C) c.2445T>C (p.Leu815=) c.462T>C (p.Leu154=) c.521T>C c.1653T>C (p.Leu551=) c.2781T>C (p.Leu927=) c.2961T>C (p.Leu987=) c.2628T>C (p.Leu876=) | |
| 7 | g.117603745T>G | CA457228029 | CFTR | c.2871T>G (p.Leu957=) c.*2585T>G (n.*2585T>G) c.2688T>G (p.Leu896=) c.*1171T>G (n.*1171T>G) c.*2695T>G (n.*2695T>G) c.2445T>G (p.Leu815=) c.462T>G (p.Leu154=) c.521T>G c.1653T>G (p.Leu551=) c.2781T>G (p.Leu927=) c.2961T>G (p.Leu987=) c.2628T>G (p.Leu876=) | |
| 7 | g.117603746C>A | CA368987438 | CFTR | c.2872C>A (p.Gln958Lys) c.*2586C>A (n.*2586C>A) c.2689C>A (p.Gln897Lys) c.*1172C>A (n.*1172C>A) c.*2696C>A (n.*2696C>A) c.2446C>A (p.Gln816Lys) c.463C>A (p.Gln155Lys) c.522C>A c.1654C>A (p.Gln552Lys) c.2782C>A (p.Gln928Lys) c.2962C>A (p.Gln988Lys) c.2629C>A (p.Gln877Lys) | |
| 7 | g.117603746C>G | CA368987442 | CFTR | c.2872C>G (p.Gln958Glu) c.*2586C>G (n.*2586C>G) c.2689C>G (p.Gln897Glu) c.*1172C>G (n.*1172C>G) c.*2696C>G (n.*2696C>G) c.2446C>G (p.Gln816Glu) c.463C>G (p.Gln155Glu) c.522C>G c.1654C>G (p.Gln552Glu) c.2782C>G (p.Gln928Glu) c.2962C>G (p.Gln988Glu) c.2629C>G (p.Gln877Glu) | |
| 7 | g.117603746C>T | CA368987434 | CFTR | c.2872C>T (p.Gln958Ter) c.*2586C>T (n.*2586C>T) c.2689C>T (p.Gln897Ter) c.*1172C>T (n.*1172C>T) c.*2696C>T (n.*2696C>T) c.2446C>T (p.Gln816Ter) c.463C>T (p.Gln155Ter) c.522C>T c.1654C>T (p.Gln552Ter) c.2782C>T (p.Gln928Ter) c.2962C>T (p.Gln988Ter) c.2629C>T (p.Gln877Ter) | ClinVar dbSNP |
| 7 | g.117603747A>C | CA368987446 | CFTR | c.2873A>C (p.Gln958Pro) c.*2587A>C (n.*2587A>C) c.2690A>C (p.Gln897Pro) c.*1173A>C (n.*1173A>C) c.*2697A>C (n.*2697A>C) c.2447A>C (p.Gln816Pro) c.464A>C (p.Gln155Pro) c.523A>C c.1655A>C (p.Gln552Pro) c.2783A>C (p.Gln928Pro) c.2963A>C (p.Gln988Pro) c.2630A>C (p.Gln877Pro) | |
| 7 | g.117603747A>G | CA368987448 | CFTR | c.2873A>G (p.Gln958Arg) c.*2587A>G (n.*2587A>G) c.2690A>G (p.Gln897Arg) c.*1173A>G (n.*1173A>G) c.*2697A>G (n.*2697A>G) c.2447A>G (p.Gln816Arg) c.464A>G (p.Gln155Arg) c.523A>G c.1655A>G (p.Gln552Arg) c.2783A>G (p.Gln928Arg) c.2963A>G (p.Gln988Arg) c.2630A>G (p.Gln877Arg) | |
| 7 | g.117603747A>T | CA368987449 | CFTR | c.2873A>T (p.Gln958Leu) c.*2587A>T (n.*2587A>T) c.2690A>T (p.Gln897Leu) c.*1173A>T (n.*1173A>T) c.*2697A>T (n.*2697A>T) c.2447A>T (p.Gln816Leu) c.464A>T (p.Gln155Leu) c.523A>T c.1655A>T (p.Gln552Leu) c.2783A>T (p.Gln928Leu) c.2963A>T (p.Gln988Leu) c.2630A>T (p.Gln877Leu) | |
| 7 | g.117603748A= | CA1737375458 | CFTR | c.2874A= (p.Gln958=) c.*2588A= (n.*2588A=) c.2691A= (p.Gln897=) c.*1174A= (n.*1174A=) c.*2698A= (n.*2698A=) c.2448A= (p.Gln816=) c.465A= (p.Gln155=) c.524A= c.1656A= (p.Gln552=) c.2784A= (p.Gln928=) c.2964A= (p.Gln988=) c.2631A= (p.Gln877=) | |
| 7 | g.117603748A>C | CA368987450 | CFTR | c.2874A>C (p.Gln958His) c.*2588A>C (n.*2588A>C) c.2691A>C (p.Gln897His) c.*1174A>C (n.*1174A>C) c.*2698A>C (n.*2698A>C) c.2448A>C (p.Gln816His) c.465A>C (p.Gln155His) c.524A>C c.1656A>C (p.Gln552His) c.2784A>C (p.Gln928His) c.2964A>C (p.Gln988His) c.2631A>C (p.Gln877His) | |
| 7 | g.117603748A>G | CA457228030 | CFTR | c.2874A>G (p.Gln958=) c.*2588A>G (n.*2588A>G) c.2691A>G (p.Gln897=) c.*1174A>G (n.*1174A>G) c.*2698A>G (n.*2698A>G) c.2448A>G (p.Gln816=) c.465A>G (p.Gln155=) c.524A>G c.1656A>G (p.Gln552=) c.2784A>G (p.Gln928=) c.2964A>G (p.Gln988=) c.2631A>G (p.Gln877=) | dbSNP gnomAD v4 |
| 7 | g.117603748A>T | CA368987451 | CFTR | c.2874A>T (p.Gln958His) c.*2588A>T (n.*2588A>T) c.2691A>T (p.Gln897His) c.*1174A>T (n.*1174A>T) c.*2698A>T (n.*2698A>T) c.2448A>T (p.Gln816His) c.465A>T (p.Gln155His) c.524A>T c.1656A>T (p.Gln552His) c.2784A>T (p.Gln928His) c.2964A>T (p.Gln988His) c.2631A>T (p.Gln877His) | |
| 7 | g.117603748_117603749delinsAG | CA1737375457 | CFTR | c.2874_2875delinsAG (p.Gln958=) c.*2588_*2589delinsAG (n.*2588_*2589delinsAG) c.2691_2692delinsAG (p.Gln897=) c.*1174_*1175delinsAG (n.*1174_*1175delinsAG) c.*2698_*2699delinsAG (n.*2698_*2699delinsAG) c.2448_2449delinsAG (p.Gln816=) c.465_466delinsAG (p.Gln155=) c.524_525delinsAG c.1656_1657delinsAG (p.Gln552=) c.2784_2785delinsAG (p.Gln928=) c.2964_2965delinsAG (p.Gln988=) c.2631_2632delinsAG (p.Gln877=) | |
| 7 | g.117603749del | CA345316 | CFTR | c.2875del (p.Ala959HisfsTer9) c.*2589del (n.*2589del) c.2692del (p.Ala898HisfsTer9) c.*1175del (n.*1175del) c.*2699del (n.*2699del) c.2449del (p.Ala817HisfsTer9) c.466del (p.Ala156HisfsTer9) c.525del c.1657del (p.Ala553HisfsTer9) c.2785del (p.Ala929HisfsTer9) c.2965del (p.Ala989HisfsTer9) c.2632del (p.Ala878HisfsTer9) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117603749G>A | CA4451304 | CFTR | c.2875G>A (p.Ala959Thr) c.*2589G>A (n.*2589G>A) c.2692G>A (p.Ala898Thr) c.*1175G>A (n.*1175G>A) c.*2699G>A (n.*2699G>A) c.2449G>A (p.Ala817Thr) c.466G>A (p.Ala156Thr) c.525G>A c.1657G>A (p.Ala553Thr) c.2785G>A (p.Ala929Thr) c.2965G>A (p.Ala989Thr) c.2632G>A (p.Ala878Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117603749G>C | CA368987452 | CFTR | c.2875G>C (p.Ala959Pro) c.*2589G>C (n.*2589G>C) c.2692G>C (p.Ala898Pro) c.*1175G>C (n.*1175G>C) c.*2699G>C (n.*2699G>C) c.2449G>C (p.Ala817Pro) c.466G>C (p.Ala156Pro) c.525G>C c.1657G>C (p.Ala553Pro) c.2785G>C (p.Ala929Pro) c.2965G>C (p.Ala989Pro) c.2632G>C (p.Ala878Pro) | |
| 7 | g.117603749G= | CA1737375469 | CFTR | c.2875G= (p.Ala959=) c.*2589G= (n.*2589G=) c.2692G= (p.Ala898=) c.*1175G= (n.*1175G=) c.*2699G= (n.*2699G=) c.2449G= (p.Ala817=) c.466G= (p.Ala156=) c.525G= c.1657G= (p.Ala553=) c.2785G= (p.Ala929=) c.2965G= (p.Ala989=) c.2632G= (p.Ala878=) | |
| 7 | g.117603749G>T | CA368987454 | CFTR | c.2875G>T (p.Ala959Ser) c.*2589G>T (n.*2589G>T) c.2692G>T (p.Ala898Ser) c.*1175G>T (n.*1175G>T) c.*2699G>T (n.*2699G>T) c.2449G>T (p.Ala817Ser) c.466G>T (p.Ala156Ser) c.525G>T c.1657G>T (p.Ala553Ser) c.2785G>T (p.Ala929Ser) c.2965G>T (p.Ala989Ser) c.2632G>T (p.Ala878Ser) | |
| 7 | g.117603750del | CA368987472 | CFTR | c.2876del (p.Ala959AspfsTer9) c.*2590del (n.*2590del) c.2693del (p.Ala898AspfsTer9) c.*1176del (n.*1176del) c.*2700del (n.*2700del) c.2450del (p.Ala817AspfsTer9) c.467del (p.Ala156AspfsTer9) c.526del c.1658del (p.Ala553AspfsTer9) c.2786del (p.Ala929AspfsTer9) c.2966del (p.Ala989AspfsTer9) c.2633del (p.Ala878AspfsTer9) | |
| 7 | g.117603750C>A | CA368987459 | CFTR | c.2876C>A (p.Ala959Glu) c.*2590C>A (n.*2590C>A) c.2693C>A (p.Ala898Glu) c.*1176C>A (n.*1176C>A) c.*2700C>A (n.*2700C>A) c.2450C>A (p.Ala817Glu) c.467C>A (p.Ala156Glu) c.526C>A c.1658C>A (p.Ala553Glu) c.2786C>A (p.Ala929Glu) c.2966C>A (p.Ala989Glu) c.2633C>A (p.Ala878Glu) | |
| 7 | g.117603750C= | CA1737375475 | CFTR | c.2876C= (p.Ala959=) c.*2590C= (n.*2590C=) c.2693C= (p.Ala898=) c.*1176C= (n.*1176C=) c.*2700C= (n.*2700C=) c.2450C= (p.Ala817=) c.467C= (p.Ala156=) c.526C= c.1658C= (p.Ala553=) c.2786C= (p.Ala929=) c.2966C= (p.Ala989=) c.2633C= (p.Ala878=) | |
| 7 | g.117603750C>G | CA368987467 | CFTR | c.2876C>G (p.Ala959Gly) c.*2590C>G (n.*2590C>G) c.2693C>G (p.Ala898Gly) c.*1176C>G (n.*1176C>G) c.*2700C>G (n.*2700C>G) c.2450C>G (p.Ala817Gly) c.467C>G (p.Ala156Gly) c.526C>G c.1658C>G (p.Ala553Gly) c.2786C>G (p.Ala929Gly) c.2966C>G (p.Ala989Gly) c.2633C>G (p.Ala878Gly) | |
| 7 | g.117603750C>T | CA326950 | CFTR | c.2876C>T (p.Ala959Val) c.*2590C>T (n.*2590C>T) c.2693C>T (p.Ala898Val) c.*1176C>T (n.*1176C>T) c.*2700C>T (n.*2700C>T) c.2450C>T (p.Ala817Val) c.467C>T (p.Ala156Val) c.526C>T c.1658C>T (p.Ala553Val) c.2786C>T (p.Ala929Val) c.2966C>T (p.Ala989Val) c.2633C>T (p.Ala878Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117603751A>C | CA457228031 | CFTR | c.2877A>C (p.Ala959=) c.*2591A>C (n.*2591A>C) c.2694A>C (p.Ala898=) c.*1177A>C (n.*1177A>C) c.*2701A>C (n.*2701A>C) c.2451A>C (p.Ala817=) c.468A>C (p.Ala156=) c.527A>C c.1659A>C (p.Ala553=) c.2787A>C (p.Ala929=) c.2967A>C (p.Ala989=) c.2634A>C (p.Ala878=) | |
| 7 | g.117603751A>G | CA457228032 | CFTR | c.2877A>G (p.Ala959=) c.*2591A>G (n.*2591A>G) c.2694A>G (p.Ala898=) c.*1177A>G (n.*1177A>G) c.*2701A>G (n.*2701A>G) c.2451A>G (p.Ala817=) c.468A>G (p.Ala156=) c.527A>G c.1659A>G (p.Ala553=) c.2787A>G (p.Ala929=) c.2967A>G (p.Ala989=) c.2634A>G (p.Ala878=) | |
| 7 | g.117603751A>T | CA457228033 | CFTR | c.2877A>T (p.Ala959=) c.*2591A>T (n.*2591A>T) c.2694A>T (p.Ala898=) c.*1177A>T (n.*1177A>T) c.*2701A>T (n.*2701A>T) c.2451A>T (p.Ala817=) c.468A>T (p.Ala156=) c.527A>T c.1659A>T (p.Ala553=) c.2787A>T (p.Ala929=) c.2967A>T (p.Ala989=) c.2634A>T (p.Ala878=) | |
| 7 | g.117603752C>A | CA368987490 | CFTR | c.2878C>A (p.Pro960Thr) c.*2592C>A (n.*2592C>A) c.2695C>A (p.Pro899Thr) c.*1178C>A (n.*1178C>A) c.*2702C>A (n.*2702C>A) c.2452C>A (p.Pro818Thr) c.469C>A (p.Pro157Thr) c.528C>A c.1660C>A (p.Pro554Thr) c.2788C>A (p.Pro930Thr) c.2968C>A (p.Pro990Thr) c.2635C>A (p.Pro879Thr) |