| 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.117603653_117603662dup | CA2695208419 | CFTR | c.2779_2788dup (p.Gly930AlafsTer?) c.*2493_*2502dup (n.*2493_*2502dup) c.2596_2605dup (p.Gly869AlafsTer?) c.*1079_*1088dup (n.*1079_*1088dup) c.*2603_*2612dup (n.*2603_*2612dup) c.2353_2362dup (p.Gly788AlafsTer?) c.370_379dup (p.Gly127AlafsTer?) c.429_438dup c.1561_1570dup (p.Gly524AlafsTer?) c.2689_2698dup (p.Gly900AlafsTer?) c.2869_2878dup (p.Gly960AlafsTer?) c.2536_2545dup (p.Gly849AlafsTer?) | |
| 7 | g.117603654T>A | CA368986791 | CFTR | c.2780T>A (p.Leu927His) c.*2494T>A (n.*2494T>A) c.2597T>A (p.Leu866His) c.*1080T>A (n.*1080T>A) c.*2604T>A (n.*2604T>A) c.2354T>A (p.Leu785His) c.371T>A (p.Leu124His) c.430T>A c.1562T>A (p.Leu521His) c.2690T>A (p.Leu897His) c.2870T>A (p.Leu957His) c.2537T>A (p.Leu846His) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117603654T>C | CA328107 | CFTR | c.2780T>C (p.Leu927Pro) c.*2494T>C (n.*2494T>C) c.2597T>C (p.Leu866Pro) c.*1080T>C (n.*1080T>C) c.*2604T>C (n.*2604T>C) c.2354T>C (p.Leu785Pro) c.371T>C (p.Leu124Pro) c.430T>C c.1562T>C (p.Leu521Pro) c.2690T>C (p.Leu897Pro) c.2870T>C (p.Leu957Pro) c.2537T>C (p.Leu846Pro) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117603654T>G | CA368986796 | CFTR | c.2780T>G (p.Leu927Arg) c.*2494T>G (n.*2494T>G) c.2597T>G (p.Leu866Arg) c.*1080T>G (n.*1080T>G) c.*2604T>G (n.*2604T>G) c.2354T>G (p.Leu785Arg) c.371T>G (p.Leu124Arg) c.430T>G c.1562T>G (p.Leu521Arg) c.2690T>G (p.Leu897Arg) c.2870T>G (p.Leu957Arg) c.2537T>G (p.Leu846Arg) | |
| 7 | g.117603654T= | CA1737375026 | CFTR | c.2780T= (p.Leu927=) c.*2494T= (n.*2494T=) c.2597T= (p.Leu866=) c.*1080T= (n.*1080T=) c.*2604T= (n.*2604T=) c.2354T= (p.Leu785=) c.371T= (p.Leu124=) c.430T= c.1562T= (p.Leu521=) c.2690T= (p.Leu897=) c.2870T= (p.Leu957=) c.2537T= (p.Leu846=) | |
| 7 | g.117603655T>A | CA457227968 | CFTR | c.2781T>A (p.Leu927=) c.*2495T>A (n.*2495T>A) c.2598T>A (p.Leu866=) c.*1081T>A (n.*1081T>A) c.*2605T>A (n.*2605T>A) c.2355T>A (p.Leu785=) c.372T>A (p.Leu124=) c.431T>A c.1563T>A (p.Leu521=) c.2691T>A (p.Leu897=) c.2871T>A (p.Leu957=) c.2538T>A (p.Leu846=) | dbSNP |
| 7 | g.117603655T>C | CA457227970 | CFTR | c.2781T>C (p.Leu927=) c.*2495T>C (n.*2495T>C) c.2598T>C (p.Leu866=) c.*1081T>C (n.*1081T>C) c.*2605T>C (n.*2605T>C) c.2355T>C (p.Leu785=) c.372T>C (p.Leu124=) c.431T>C c.1563T>C (p.Leu521=) c.2691T>C (p.Leu897=) c.2871T>C (p.Leu957=) c.2538T>C (p.Leu846=) | |
| 7 | g.117603655T>G | CA457227969 | CFTR | c.2781T>G (p.Leu927=) c.*2495T>G (n.*2495T>G) c.2598T>G (p.Leu866=) c.*1081T>G (n.*1081T>G) c.*2605T>G (n.*2605T>G) c.2355T>G (p.Leu785=) c.372T>G (p.Leu124=) c.431T>G c.1563T>G (p.Leu521=) c.2691T>G (p.Leu897=) c.2871T>G (p.Leu957=) c.2538T>G (p.Leu846=) | |
| 7 | g.117603655T= | CA1737375032 | CFTR | c.2781T= (p.Leu927=) c.*2495T= (n.*2495T=) c.2598T= (p.Leu866=) c.*1081T= (n.*1081T=) c.*2605T= (n.*2605T=) c.2355T= (p.Leu785=) c.372T= (p.Leu124=) c.431T= c.1563T= (p.Leu521=) c.2691T= (p.Leu897=) c.2871T= (p.Leu957=) c.2538T= (p.Leu846=) | |
| 7 | g.117603656G>A | CA368986801 | CFTR | c.2782G>A (p.Ala928Thr) c.*2496G>A (n.*2496G>A) c.2599G>A (p.Ala867Thr) c.*1082G>A (n.*1082G>A) c.*2606G>A (n.*2606G>A) c.2356G>A (p.Ala786Thr) c.373G>A (p.Ala125Thr) c.432G>A c.1564G>A (p.Ala522Thr) c.2692G>A (p.Ala898Thr) c.2872G>A (p.Ala958Thr) c.2539G>A (p.Ala847Thr) | |
| 7 | g.117603656G>C | CA368986804 | CFTR | c.2782G>C (p.Ala928Pro) c.*2496G>C (n.*2496G>C) c.2599G>C (p.Ala867Pro) c.*1082G>C (n.*1082G>C) c.*2606G>C (n.*2606G>C) c.2356G>C (p.Ala786Pro) c.373G>C (p.Ala125Pro) c.432G>C c.1564G>C (p.Ala522Pro) c.2692G>C (p.Ala898Pro) c.2872G>C (p.Ala958Pro) c.2539G>C (p.Ala847Pro) | |
| 7 | g.117603656G>T | CA368986806 | CFTR | c.2782G>T (p.Ala928Ser) c.*2496G>T (n.*2496G>T) c.2599G>T (p.Ala867Ser) c.*1082G>T (n.*1082G>T) c.*2606G>T (n.*2606G>T) c.2356G>T (p.Ala786Ser) c.373G>T (p.Ala125Ser) c.432G>T c.1564G>T (p.Ala522Ser) c.2692G>T (p.Ala898Ser) c.2872G>T (p.Ala958Ser) c.2539G>T (p.Ala847Ser) | |
| 7 | g.117603657C>A | CA368986809 | CFTR | c.2783C>A (p.Ala928Asp) c.*2497C>A (n.*2497C>A) c.2600C>A (p.Ala867Asp) c.*1083C>A (n.*1083C>A) c.*2607C>A (n.*2607C>A) c.2357C>A (p.Ala786Asp) c.374C>A (p.Ala125Asp) c.433C>A c.1565C>A (p.Ala522Asp) c.2693C>A (p.Ala898Asp) c.2873C>A (p.Ala958Asp) c.2540C>A (p.Ala847Asp) | |
| 7 | g.117603657C>G | CA368986814 | CFTR | c.2783C>G (p.Ala928Gly) c.*2497C>G (n.*2497C>G) c.2600C>G (p.Ala867Gly) c.*1083C>G (n.*1083C>G) c.*2607C>G (n.*2607C>G) c.2357C>G (p.Ala786Gly) c.374C>G (p.Ala125Gly) c.433C>G c.1565C>G (p.Ala522Gly) c.2693C>G (p.Ala898Gly) c.2873C>G (p.Ala958Gly) c.2540C>G (p.Ala847Gly) | |
| 7 | g.117603657C>T | CA368986812 | CFTR | c.2783C>T (p.Ala928Val) c.*2497C>T (n.*2497C>T) c.2600C>T (p.Ala867Val) c.*1083C>T (n.*1083C>T) c.*2607C>T (n.*2607C>T) c.2357C>T (p.Ala786Val) c.374C>T (p.Ala125Val) c.433C>T c.1565C>T (p.Ala522Val) c.2693C>T (p.Ala898Val) c.2873C>T (p.Ala958Val) c.2540C>T (p.Ala847Val) | gnomAD v4 COSMIC |
| 7 | g.117603658T>A | CA457227973 | CFTR | c.2784T>A (p.Ala928=) c.*2498T>A (n.*2498T>A) c.2601T>A (p.Ala867=) c.*1084T>A (n.*1084T>A) c.*2608T>A (n.*2608T>A) c.2358T>A (p.Ala786=) c.375T>A (p.Ala125=) c.434T>A c.1566T>A (p.Ala522=) c.2694T>A (p.Ala898=) c.2874T>A (p.Ala958=) c.2541T>A (p.Ala847=) | |
| 7 | g.117603658T>C | CA457227972 | CFTR | c.2784T>C (p.Ala928=) c.*2498T>C (n.*2498T>C) c.2601T>C (p.Ala867=) c.*1084T>C (n.*1084T>C) c.*2608T>C (n.*2608T>C) c.2358T>C (p.Ala786=) c.375T>C (p.Ala125=) c.434T>C c.1566T>C (p.Ala522=) c.2694T>C (p.Ala898=) c.2874T>C (p.Ala958=) c.2541T>C (p.Ala847=) | |
| 7 | g.117603658T>G | CA457227971 | CFTR | c.2784T>G (p.Ala928=) c.*2498T>G (n.*2498T>G) c.2601T>G (p.Ala867=) c.*1084T>G (n.*1084T>G) c.*2608T>G (n.*2608T>G) c.2358T>G (p.Ala786=) c.375T>G (p.Ala125=) c.434T>G c.1566T>G (p.Ala522=) c.2694T>G (p.Ala898=) c.2874T>G (p.Ala958=) c.2541T>G (p.Ala847=) | |
| 7 | g.117603659A>C | CA368986819 | CFTR | c.2785A>C (p.Met929Leu) c.*2499A>C (n.*2499A>C) c.2602A>C (p.Met868Leu) c.*1085A>C (n.*1085A>C) c.*2609A>C (n.*2609A>C) c.2359A>C (p.Met787Leu) c.376A>C (p.Met126Leu) c.435A>C c.1567A>C (p.Met523Leu) c.2695A>C (p.Met899Leu) c.2875A>C (p.Met959Leu) c.2542A>C (p.Met848Leu) | |
| 7 | g.117603659A>G | CA368986822 | CFTR | c.2785A>G (p.Met929Val) c.*2499A>G (n.*2499A>G) c.2602A>G (p.Met868Val) c.*1085A>G (n.*1085A>G) c.*2609A>G (n.*2609A>G) c.2359A>G (p.Met787Val) c.376A>G (p.Met126Val) c.435A>G c.1567A>G (p.Met523Val) c.2695A>G (p.Met899Val) c.2875A>G (p.Met959Val) c.2542A>G (p.Met848Val) | |
| 7 | g.117603659A>T | CA368986825 | CFTR | c.2785A>T (p.Met929Leu) c.*2499A>T (n.*2499A>T) c.2602A>T (p.Met868Leu) c.*1085A>T (n.*1085A>T) c.*2609A>T (n.*2609A>T) c.2359A>T (p.Met787Leu) c.376A>T (p.Met126Leu) c.435A>T c.1567A>T (p.Met523Leu) c.2695A>T (p.Met899Leu) c.2875A>T (p.Met959Leu) c.2542A>T (p.Met848Leu) | |
| 7 | g.117603660T>A | CA368986828 | CFTR | c.2786T>A (p.Met929Lys) c.*2500T>A (n.*2500T>A) c.2603T>A (p.Met868Lys) c.*1086T>A (n.*1086T>A) c.*2610T>A (n.*2610T>A) c.2360T>A (p.Met787Lys) c.377T>A (p.Met126Lys) c.436T>A c.1568T>A (p.Met523Lys) c.2696T>A (p.Met899Lys) c.2876T>A (p.Met959Lys) c.2543T>A (p.Met848Lys) | gnomAD v4 |
| 7 | g.117603660T>C | CA368986831 | CFTR | c.2786T>C (p.Met929Thr) c.*2500T>C (n.*2500T>C) c.2603T>C (p.Met868Thr) c.*1086T>C (n.*1086T>C) c.*2610T>C (n.*2610T>C) c.2360T>C (p.Met787Thr) c.377T>C (p.Met126Thr) c.436T>C c.1568T>C (p.Met523Thr) c.2696T>C (p.Met899Thr) c.2876T>C (p.Met959Thr) c.2543T>C (p.Met848Thr) | |
| 7 | g.117603660T>G | CA368986840 | CFTR | c.2786T>G (p.Met929Arg) c.*2500T>G (n.*2500T>G) c.2603T>G (p.Met868Arg) c.*1086T>G (n.*1086T>G) c.*2610T>G (n.*2610T>G) c.2360T>G (p.Met787Arg) c.377T>G (p.Met126Arg) c.436T>G c.1568T>G (p.Met523Arg) c.2696T>G (p.Met899Arg) c.2876T>G (p.Met959Arg) c.2543T>G (p.Met848Arg) | |
| 7 | g.117603661G>A | CA368986843 | CFTR | c.2787G>A (p.Met929Ile) c.*2501G>A (n.*2501G>A) c.2604G>A (p.Met868Ile) c.*1087G>A (n.*1087G>A) c.*2611G>A (n.*2611G>A) c.2361G>A (p.Met787Ile) c.378G>A (p.Met126Ile) c.437G>A c.1569G>A (p.Met523Ile) c.2697G>A (p.Met899Ile) c.2877G>A (p.Met959Ile) c.2544G>A (p.Met848Ile) | ClinVar |
| 7 | g.117603661G>C | CA368986845 | CFTR | c.2787G>C (p.Met929Ile) c.*2501G>C (n.*2501G>C) c.2604G>C (p.Met868Ile) c.*1087G>C (n.*1087G>C) c.*2611G>C (n.*2611G>C) c.2361G>C (p.Met787Ile) c.378G>C (p.Met126Ile) c.437G>C c.1569G>C (p.Met523Ile) c.2697G>C (p.Met899Ile) c.2877G>C (p.Met959Ile) c.2544G>C (p.Met848Ile) | |
| 7 | g.117603661G>T | CA368986847 | CFTR | c.2787G>T (p.Met929Ile) c.*2501G>T (n.*2501G>T) c.2604G>T (p.Met868Ile) c.*1087G>T (n.*1087G>T) c.*2611G>T (n.*2611G>T) c.2361G>T (p.Met787Ile) c.378G>T (p.Met126Ile) c.437G>T c.1569G>T (p.Met523Ile) c.2697G>T (p.Met899Ile) c.2877G>T (p.Met959Ile) c.2544G>T (p.Met848Ile) | |
| 7 | g.117603663del | CA2695208420 | CFTR | c.2789del (p.Gly930AspfsTer12) c.*2503del (n.*2503del) c.2606del (p.Gly869AspfsTer12) c.*1089del (n.*1089del) c.*2613del (n.*2613del) c.2363del (p.Gly788AspfsTer12) c.380del (p.Gly127AspfsTer12) c.439del c.1571del (p.Gly524AspfsTer12) c.2699del (p.Gly900AspfsTer12) c.2879del (p.Gly960AspfsTer12) c.2546del (p.Gly849AspfsTer12) | |
| 7 | g.117603662G>A | CA368986848 | CFTR | c.2788G>A (p.Gly930Arg) c.*2502G>A (n.*2502G>A) c.2605G>A (p.Gly869Arg) c.*1088G>A (n.*1088G>A) c.*2612G>A (n.*2612G>A) c.2362G>A (p.Gly788Arg) c.379G>A (p.Gly127Arg) c.438G>A c.1570G>A (p.Gly524Arg) c.2698G>A (p.Gly900Arg) c.2878G>A (p.Gly960Arg) c.2545G>A (p.Gly849Arg) | |
| 7 | g.117603662G>C | CA368986849 | CFTR | c.2788G>C (p.Gly930Arg) c.*2502G>C (n.*2502G>C) c.2605G>C (p.Gly869Arg) c.*1088G>C (n.*1088G>C) c.*2612G>C (n.*2612G>C) c.2362G>C (p.Gly788Arg) c.379G>C (p.Gly127Arg) c.438G>C c.1570G>C (p.Gly524Arg) c.2698G>C (p.Gly900Arg) c.2878G>C (p.Gly960Arg) c.2545G>C (p.Gly849Arg) | |
| 7 | g.117603662G>T | CA368986851 | CFTR | c.2788G>T (p.Gly930Ter) c.*2502G>T (n.*2502G>T) c.2605G>T (p.Gly869Ter) c.*1088G>T (n.*1088G>T) c.*2612G>T (n.*2612G>T) c.2362G>T (p.Gly788Ter) c.379G>T (p.Gly127Ter) c.438G>T c.1570G>T (p.Gly524Ter) c.2698G>T (p.Gly900Ter) c.2878G>T (p.Gly960Ter) c.2545G>T (p.Gly849Ter) | gnomAD v4 |
| 7 | g.117603663G>A | CA368986853 | CFTR | c.2789G>A (p.Gly930Glu) c.*2503G>A (n.*2503G>A) c.2606G>A (p.Gly869Glu) c.*1089G>A (n.*1089G>A) c.*2613G>A (n.*2613G>A) c.2363G>A (p.Gly788Glu) c.380G>A (p.Gly127Glu) c.439G>A c.1571G>A (p.Gly524Glu) c.2699G>A (p.Gly900Glu) c.2879G>A (p.Gly960Glu) c.2546G>A (p.Gly849Glu) | |
| 7 | g.117603663G>C | CA368986855 | CFTR | c.2789G>C (p.Gly930Ala) c.*2503G>C (n.*2503G>C) c.2606G>C (p.Gly869Ala) c.*1089G>C (n.*1089G>C) c.*2613G>C (n.*2613G>C) c.2363G>C (p.Gly788Ala) c.380G>C (p.Gly127Ala) c.439G>C c.1571G>C (p.Gly524Ala) c.2699G>C (p.Gly900Ala) c.2879G>C (p.Gly960Ala) c.2546G>C (p.Gly849Ala) | |
| 7 | g.117603663G>T | CA368986854 | CFTR | c.2789G>T (p.Gly930Val) c.*2503G>T (n.*2503G>T) c.2606G>T (p.Gly869Val) c.*1089G>T (n.*1089G>T) c.*2613G>T (n.*2613G>T) c.2363G>T (p.Gly788Val) c.380G>T (p.Gly127Val) c.439G>T c.1571G>T (p.Gly524Val) c.2699G>T (p.Gly900Val) c.2879G>T (p.Gly960Val) c.2546G>T (p.Gly849Val) | gnomAD v4 |
| 7 | g.117603664A= | CA1737375034 | CFTR | c.2790A= (p.Gly930=) c.*2504A= (n.*2504A=) c.2607A= (p.Gly869=) c.*1090A= (n.*1090A=) c.*2614A= (n.*2614A=) c.2364A= (p.Gly788=) c.381A= (p.Gly127=) c.440A= c.1572A= (p.Gly524=) c.2700A= (p.Gly900=) c.2880A= (p.Gly960=) c.2547A= (p.Gly849=) | |
| 7 | g.117603664A>C | CA457227974 | CFTR | c.2790A>C (p.Gly930=) c.*2504A>C (n.*2504A>C) c.2607A>C (p.Gly869=) c.*1090A>C (n.*1090A>C) c.*2614A>C (n.*2614A>C) c.2364A>C (p.Gly788=) c.381A>C (p.Gly127=) c.440A>C c.1572A>C (p.Gly524=) c.2700A>C (p.Gly900=) c.2880A>C (p.Gly960=) c.2547A>C (p.Gly849=) | ClinVar |
| 7 | g.117603664A>G | CA164960202 | CFTR | c.2790A>G (p.Gly930=) c.*2504A>G (n.*2504A>G) c.2607A>G (p.Gly869=) c.*1090A>G (n.*1090A>G) c.*2614A>G (n.*2614A>G) c.2364A>G (p.Gly788=) c.381A>G (p.Gly127=) c.440A>G c.1572A>G (p.Gly524=) c.2700A>G (p.Gly900=) c.2880A>G (p.Gly960=) c.2547A>G (p.Gly849=) | ClinVar dbSNP |
| 7 | g.117603664A>T | CA457227975 | CFTR | c.2790A>T (p.Gly930=) c.*2504A>T (n.*2504A>T) c.2607A>T (p.Gly869=) c.*1090A>T (n.*1090A>T) c.*2614A>T (n.*2614A>T) c.2364A>T (p.Gly788=) c.381A>T (p.Gly127=) c.440A>T c.1572A>T (p.Gly524=) c.2700A>T (p.Gly900=) c.2880A>T (p.Gly960=) c.2547A>T (p.Gly849=) | |
| 7 | g.117603665T>A | CA368986857 | CFTR | c.2791T>A (p.Phe931Ile) c.*2505T>A (n.*2505T>A) c.2608T>A (p.Phe870Ile) c.*1091T>A (n.*1091T>A) c.*2615T>A (n.*2615T>A) c.2365T>A (p.Phe789Ile) c.382T>A (p.Phe128Ile) c.441T>A c.1573T>A (p.Phe525Ile) c.2701T>A (p.Phe901Ile) c.2881T>A (p.Phe961Ile) c.2548T>A (p.Phe850Ile) | |
| 7 | g.117603665T>C | CA368986859 | CFTR | c.2791T>C (p.Phe931Leu) c.*2505T>C (n.*2505T>C) c.2608T>C (p.Phe870Leu) c.*1091T>C (n.*1091T>C) c.*2615T>C (n.*2615T>C) c.2365T>C (p.Phe789Leu) c.382T>C (p.Phe128Leu) c.441T>C c.1573T>C (p.Phe525Leu) c.2701T>C (p.Phe901Leu) c.2881T>C (p.Phe961Leu) c.2548T>C (p.Phe850Leu) | |
| 7 | g.117603665T>G | CA368986863 | CFTR | c.2791T>G (p.Phe931Val) c.*2505T>G (n.*2505T>G) c.2608T>G (p.Phe870Val) c.*1091T>G (n.*1091T>G) c.*2615T>G (n.*2615T>G) c.2365T>G (p.Phe789Val) c.382T>G (p.Phe128Val) c.441T>G c.1573T>G (p.Phe525Val) c.2701T>G (p.Phe901Val) c.2881T>G (p.Phe961Val) c.2548T>G (p.Phe850Val) | |
| 7 | g.117603666T>A | CA368986866 | CFTR | c.2792T>A (p.Phe931Tyr) c.*2506T>A (n.*2506T>A) c.2609T>A (p.Phe870Tyr) c.*1092T>A (n.*1092T>A) c.*2616T>A (n.*2616T>A) c.2366T>A (p.Phe789Tyr) c.383T>A (p.Phe128Tyr) c.442T>A c.1574T>A (p.Phe525Tyr) c.2702T>A (p.Phe901Tyr) c.2882T>A (p.Phe961Tyr) c.2549T>A (p.Phe850Tyr) | |
| 7 | g.117603666T>C | CA368986867 | CFTR | c.2792T>C (p.Phe931Ser) c.*2506T>C (n.*2506T>C) c.2609T>C (p.Phe870Ser) c.*1092T>C (n.*1092T>C) c.*2616T>C (n.*2616T>C) c.2366T>C (p.Phe789Ser) c.383T>C (p.Phe128Ser) c.442T>C c.1574T>C (p.Phe525Ser) c.2702T>C (p.Phe901Ser) c.2882T>C (p.Phe961Ser) c.2549T>C (p.Phe850Ser) | |
| 7 | g.117603666T>G | CA368986869 | CFTR | c.2792T>G (p.Phe931Cys) c.*2506T>G (n.*2506T>G) c.2609T>G (p.Phe870Cys) c.*1092T>G (n.*1092T>G) c.*2616T>G (n.*2616T>G) c.2366T>G (p.Phe789Cys) c.383T>G (p.Phe128Cys) c.442T>G c.1574T>G (p.Phe525Cys) c.2702T>G (p.Phe901Cys) c.2882T>G (p.Phe961Cys) c.2549T>G (p.Phe850Cys) | |
| 7 | g.117603667C>A | CA368986870 | CFTR | c.2793C>A (p.Phe931Leu) c.*2507C>A (n.*2507C>A) c.2610C>A (p.Phe870Leu) c.*1093C>A (n.*1093C>A) c.*2617C>A (n.*2617C>A) c.2367C>A (p.Phe789Leu) c.384C>A (p.Phe128Leu) c.443C>A c.1575C>A (p.Phe525Leu) c.2703C>A (p.Phe901Leu) c.2883C>A (p.Phe961Leu) c.2550C>A (p.Phe850Leu) | |
| 7 | g.117603667C= | CA1737375038 | CFTR | c.2793C= (p.Phe931=) c.*2507C= (n.*2507C=) c.2610C= (p.Phe870=) c.*1093C= (n.*1093C=) c.*2617C= (n.*2617C=) c.2367C= (p.Phe789=) c.384C= (p.Phe128=) c.443C= c.1575C= (p.Phe525=) c.2703C= (p.Phe901=) c.2883C= (p.Phe961=) c.2550C= (p.Phe850=) | |
| 7 | g.117603667C>G | CA368986872 | CFTR | c.2793C>G (p.Phe931Leu) c.*2507C>G (n.*2507C>G) c.2610C>G (p.Phe870Leu) c.*1093C>G (n.*1093C>G) c.*2617C>G (n.*2617C>G) c.2367C>G (p.Phe789Leu) c.384C>G (p.Phe128Leu) c.443C>G c.1575C>G (p.Phe525Leu) c.2703C>G (p.Phe901Leu) c.2883C>G (p.Phe961Leu) c.2550C>G (p.Phe850Leu) | gnomAD v4 |
| 7 | g.117603667C>T | CA457227976 | CFTR | c.2793C>T (p.Phe931=) c.*2507C>T (n.*2507C>T) c.2610C>T (p.Phe870=) c.*1093C>T (n.*1093C>T) c.*2617C>T (n.*2617C>T) c.2367C>T (p.Phe789=) c.384C>T (p.Phe128=) c.443C>T c.1575C>T (p.Phe525=) c.2703C>T (p.Phe901=) c.2883C>T (p.Phe961=) c.2550C>T (p.Phe850=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |