| 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.117603733A= | CA1737375423 | CFTR | c.2859A= (p.Leu953=) c.*2573A= (n.*2573A=) c.2676A= (p.Leu892=) c.*1159A= (n.*1159A=) c.*2683A= (n.*2683A=) c.2433A= (p.Leu811=) c.450A= (p.Leu150=) c.509A= c.1641A= (p.Leu547=) c.2769A= (p.Leu923=) c.2949A= (p.Leu983=) c.2616A= (p.Leu872=) | |
| 7 | g.117603733A>C | CA368987354 | CFTR | c.2859A>C (p.Leu953Phe) c.*2573A>C (n.*2573A>C) c.2676A>C (p.Leu892Phe) c.*1159A>C (n.*1159A>C) c.*2683A>C (n.*2683A>C) c.2433A>C (p.Leu811Phe) c.450A>C (p.Leu150Phe) c.509A>C c.1641A>C (p.Leu547Phe) c.2769A>C (p.Leu923Phe) c.2949A>C (p.Leu983Phe) c.2616A>C (p.Leu872Phe) | |
| 7 | g.117603733A>G | CA4451301 | CFTR | c.2859A>G (p.Leu953=) c.*2573A>G (n.*2573A>G) c.2676A>G (p.Leu892=) c.*1159A>G (n.*1159A>G) c.*2683A>G (n.*2683A>G) c.2433A>G (p.Leu811=) c.450A>G (p.Leu150=) c.509A>G c.1641A>G (p.Leu547=) c.2769A>G (p.Leu923=) c.2949A>G (p.Leu983=) c.2616A>G (p.Leu872=) | ClinVar dbSNP ExAC gnomAD v2 |
| 7 | g.117603733A>T | CA368987360 | CFTR | c.2859A>T (p.Leu953Phe) c.*2573A>T (n.*2573A>T) c.2676A>T (p.Leu892Phe) c.*1159A>T (n.*1159A>T) c.*2683A>T (n.*2683A>T) c.2433A>T (p.Leu811Phe) c.450A>T (p.Leu150Phe) c.509A>T c.1641A>T (p.Leu547Phe) c.2769A>T (p.Leu923Phe) c.2949A>T (p.Leu983Phe) c.2616A>T (p.Leu872Phe) | |
| 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) | |
| 7 | g.117603734C>A | CA368987367 | CFTR | c.2860C>A (p.His954Asn) c.*2574C>A (n.*2574C>A) c.2677C>A (p.His893Asn) c.*1160C>A (n.*1160C>A) c.*2684C>A (n.*2684C>A) c.2434C>A (p.His812Asn) c.451C>A (p.His151Asn) c.510C>A c.1642C>A (p.His548Asn) c.2770C>A (p.His924Asn) c.2950C>A (p.His984Asn) c.2617C>A (p.His873Asn) | |
| 7 | g.117603734C= | CA1737375431 | CFTR | c.2860C= (p.His954=) c.*2574C= (n.*2574C=) c.2677C= (p.His893=) c.*1160C= (n.*1160C=) c.*2684C= (n.*2684C=) c.2434C= (p.His812=) c.451C= (p.His151=) c.510C= c.1642C= (p.His548=) c.2770C= (p.His924=) c.2950C= (p.His984=) c.2617C= (p.His873=) | |
| 7 | g.117603734C>G | CA368987363 | CFTR | c.2860C>G (p.His954Asp) c.*2574C>G (n.*2574C>G) c.2677C>G (p.His893Asp) c.*1160C>G (n.*1160C>G) c.*2684C>G (n.*2684C>G) c.2434C>G (p.His812Asp) c.451C>G (p.His151Asp) c.510C>G c.1642C>G (p.His548Asp) c.2770C>G (p.His924Asp) c.2950C>G (p.His984Asp) c.2617C>G (p.His873Asp) | |
| 7 | g.117603734C>T | CA4451302 | CFTR | c.2860C>T (p.His954Tyr) c.*2574C>T (n.*2574C>T) c.2677C>T (p.His893Tyr) c.*1160C>T (n.*1160C>T) c.*2684C>T (n.*2684C>T) c.2434C>T (p.His812Tyr) c.451C>T (p.His151Tyr) c.510C>T c.1642C>T (p.His548Tyr) c.2770C>T (p.His924Tyr) c.2950C>T (p.His984Tyr) c.2617C>T (p.His873Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117603735A= | CA1737375437 | CFTR | c.2861A= (p.His954=) c.*2575A= (n.*2575A=) c.2678A= (p.His893=) c.*1161A= (n.*1161A=) c.*2685A= (n.*2685A=) c.2435A= (p.His812=) c.452A= (p.His151=) c.511A= c.1643A= (p.His548=) c.2771A= (p.His924=) c.2951A= (p.His984=) c.2618A= (p.His873=) | |
| 7 | g.117603735A>C | CA326948 | CFTR | c.2861A>C (p.His954Pro) c.*2575A>C (n.*2575A>C) c.2678A>C (p.His893Pro) c.*1161A>C (n.*1161A>C) c.*2685A>C (n.*2685A>C) c.2435A>C (p.His812Pro) c.452A>C (p.His151Pro) c.511A>C c.1643A>C (p.His548Pro) c.2771A>C (p.His924Pro) c.2951A>C (p.His984Pro) c.2618A>C (p.His873Pro) | ClinVar dbSNP |
| 7 | g.117603735A>G | CA368987372 | CFTR | c.2861A>G (p.His954Arg) c.*2575A>G (n.*2575A>G) c.2678A>G (p.His893Arg) c.*1161A>G (n.*1161A>G) c.*2685A>G (n.*2685A>G) c.2435A>G (p.His812Arg) c.452A>G (p.His151Arg) c.511A>G c.1643A>G (p.His548Arg) c.2771A>G (p.His924Arg) c.2951A>G (p.His984Arg) c.2618A>G (p.His873Arg) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117603735A>T | CA368987375 | CFTR | c.2861A>T (p.His954Leu) c.*2575A>T (n.*2575A>T) c.2678A>T (p.His893Leu) c.*1161A>T (n.*1161A>T) c.*2685A>T (n.*2685A>T) c.2435A>T (p.His812Leu) c.452A>T (p.His151Leu) c.511A>T c.1643A>T (p.His548Leu) c.2771A>T (p.His924Leu) c.2951A>T (p.His984Leu) c.2618A>T (p.His873Leu) | |
| 7 | g.117603736T>A | CA368987379 | CFTR | c.2862T>A (p.His954Gln) c.*2576T>A (n.*2576T>A) c.2679T>A (p.His893Gln) c.*1162T>A (n.*1162T>A) c.*2686T>A (n.*2686T>A) c.2436T>A (p.His812Gln) c.453T>A (p.His151Gln) c.512T>A c.1644T>A (p.His548Gln) c.2772T>A (p.His924Gln) c.2952T>A (p.His984Gln) c.2619T>A (p.His873Gln) | |
| 7 | g.117603736T>C | CA457228020 | CFTR | c.2862T>C (p.His954=) c.*2576T>C (n.*2576T>C) c.2679T>C (p.His893=) c.*1162T>C (n.*1162T>C) c.*2686T>C (n.*2686T>C) c.2436T>C (p.His812=) c.453T>C (p.His151=) c.512T>C c.1644T>C (p.His548=) c.2772T>C (p.His924=) c.2952T>C (p.His984=) c.2619T>C (p.His873=) | |
| 7 | g.117603736T>G | CA368987382 | CFTR | c.2862T>G (p.His954Gln) c.*2576T>G (n.*2576T>G) c.2679T>G (p.His893Gln) c.*1162T>G (n.*1162T>G) c.*2686T>G (n.*2686T>G) c.2436T>G (p.His812Gln) c.453T>G (p.His151Gln) c.512T>G c.1644T>G (p.His548Gln) c.2772T>G (p.His924Gln) c.2952T>G (p.His984Gln) c.2619T>G (p.His873Gln) | |
| 7 | g.117603737T>A | CA368987386 | CFTR | c.2863T>A (p.Ser955Thr) c.*2577T>A (n.*2577T>A) c.2680T>A (p.Ser894Thr) c.*1163T>A (n.*1163T>A) c.*2687T>A (n.*2687T>A) c.2437T>A (p.Ser813Thr) c.454T>A (p.Ser152Thr) c.513T>A c.1645T>A (p.Ser549Thr) c.2773T>A (p.Ser925Thr) c.2953T>A (p.Ser985Thr) c.2620T>A (p.Ser874Thr) | |
| 7 | g.117603737T>C | CA368987389 | CFTR | c.2863T>C (p.Ser955Pro) c.*2577T>C (n.*2577T>C) c.2680T>C (p.Ser894Pro) c.*1163T>C (n.*1163T>C) c.*2687T>C (n.*2687T>C) c.2437T>C (p.Ser813Pro) c.454T>C (p.Ser152Pro) c.513T>C c.1645T>C (p.Ser549Pro) c.2773T>C (p.Ser925Pro) c.2953T>C (p.Ser985Pro) c.2620T>C (p.Ser874Pro) | |
| 7 | g.117603737T>G | CA368987390 | CFTR | c.2863T>G (p.Ser955Ala) c.*2577T>G (n.*2577T>G) c.2680T>G (p.Ser894Ala) c.*1163T>G (n.*1163T>G) c.*2687T>G (n.*2687T>G) c.2437T>G (p.Ser813Ala) c.454T>G (p.Ser152Ala) c.513T>G c.1645T>G (p.Ser549Ala) c.2773T>G (p.Ser925Ala) c.2953T>G (p.Ser985Ala) c.2620T>G (p.Ser874Ala) | ClinVar dbSNP |
| 7 | g.117603737T= | CA1737375447 | CFTR | c.2863T= (p.Ser955=) c.*2577T= (n.*2577T=) c.2680T= (p.Ser894=) c.*1163T= (n.*1163T=) c.*2687T= (n.*2687T=) c.2437T= (p.Ser813=) c.454T= (p.Ser152=) c.513T= c.1645T= (p.Ser549=) c.2773T= (p.Ser925=) c.2953T= (p.Ser985=) c.2620T= (p.Ser874=) | |
| 7 | g.117603738C>A | CA368987394 | CFTR | c.2864C>A (p.Ser955Tyr) c.*2578C>A (n.*2578C>A) c.2681C>A (p.Ser894Tyr) c.*1164C>A (n.*1164C>A) c.*2688C>A (n.*2688C>A) c.2438C>A (p.Ser813Tyr) c.455C>A (p.Ser152Tyr) c.514C>A c.1646C>A (p.Ser549Tyr) c.2774C>A (p.Ser925Tyr) c.2954C>A (p.Ser985Tyr) c.2621C>A (p.Ser874Tyr) | |
| 7 | g.117603738C>G | CA368987393 | CFTR | c.2864C>G (p.Ser955Cys) c.*2578C>G (n.*2578C>G) c.2681C>G (p.Ser894Cys) c.*1164C>G (n.*1164C>G) c.*2688C>G (n.*2688C>G) c.2438C>G (p.Ser813Cys) c.455C>G (p.Ser152Cys) c.514C>G c.1646C>G (p.Ser549Cys) c.2774C>G (p.Ser925Cys) c.2954C>G (p.Ser985Cys) c.2621C>G (p.Ser874Cys) | |
| 7 | g.117603738C>T | CA368987391 | CFTR | c.2864C>T (p.Ser955Phe) c.*2578C>T (n.*2578C>T) c.2681C>T (p.Ser894Phe) c.*1164C>T (n.*1164C>T) c.*2688C>T (n.*2688C>T) c.2438C>T (p.Ser813Phe) c.455C>T (p.Ser152Phe) c.514C>T c.1646C>T (p.Ser549Phe) c.2774C>T (p.Ser925Phe) c.2954C>T (p.Ser985Phe) c.2621C>T (p.Ser874Phe) | gnomAD v4 |
| 7 | g.117603739T>A | CA457228021 | CFTR | c.2865T>A (p.Ser955=) c.*2579T>A (n.*2579T>A) c.2682T>A (p.Ser894=) c.*1165T>A (n.*1165T>A) c.*2689T>A (n.*2689T>A) c.2439T>A (p.Ser813=) c.456T>A (p.Ser152=) c.515T>A c.1647T>A (p.Ser549=) c.2775T>A (p.Ser925=) c.2955T>A (p.Ser985=) c.2622T>A (p.Ser874=) | |
| 7 | g.117603739T>C | CA457228022 | CFTR | c.2865T>C (p.Ser955=) c.*2579T>C (n.*2579T>C) c.2682T>C (p.Ser894=) c.*1165T>C (n.*1165T>C) c.*2689T>C (n.*2689T>C) c.2439T>C (p.Ser813=) c.456T>C (p.Ser152=) c.515T>C c.1647T>C (p.Ser549=) c.2775T>C (p.Ser925=) c.2955T>C (p.Ser985=) c.2622T>C (p.Ser874=) | gnomAD v4 |
| 7 | g.117603739T>G | CA457228023 | CFTR | c.2865T>G (p.Ser955=) c.*2579T>G (n.*2579T>G) c.2682T>G (p.Ser894=) c.*1165T>G (n.*1165T>G) c.*2689T>G (n.*2689T>G) c.2439T>G (p.Ser813=) c.456T>G (p.Ser152=) c.515T>G c.1647T>G (p.Ser549=) c.2775T>G (p.Ser925=) c.2955T>G (p.Ser985=) c.2622T>G (p.Ser874=) | gnomAD v4 |
| 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=) |