| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117591251_117595608delinsCTACATTTGTACTA | CA2580076490 | CFTR | c.1767-683_2619+550delinsCTACATTTGTACTA c.*1481-683_*2333+550delinsCTACATTTGTACTA c.1584-683_2436+550delinsCTACATTTGTACTA c.*67-683_*919+550delinsCTACATTTGTACTA c.*1591-683_*2443+550delinsCTACATTTGTACTA c.1341-683_2193+550delinsCTACATTTGTACTA c.1402-11575_1402-7218delinsCTACATTTGTACTA (n.1402-11575_1402-7218delinsCTACATTTGTACTA) c.1677-683_2529+550delinsCTACATTTGTACTA c.1857-683_2709+550delinsCTACATTTGTACTA c.1524-683_2376+550delinsCTACATTTGTACTA | ClinVar |
| 7 | g.117593484_117599275del | CA2580076573 | CFTR | c.2490+827_2620-3551del c.*2204+827_*2334-3551del c.2307+827_2437-3551del c.*790+827_*920-3551del c.*2314+827_*2444-3551del c.2064+827_2194-3551del c.81+827_211-3551del c.140+827_270-3551del c.1402-9342_1402-3551del (n.1402-9342_1402-3551del) c.2400+827_2530-3551del c.2580+827_2710-3551del c.2247+827_2377-3551del | ClinVar |
| 7 | g.117593794_117597288del | CA1139660206 | CFTR | c.2491-1136_2619+2230del c.*2205-1136_*2333+2230del c.2308-1136_2436+2230del c.*791-1136_*919+2230del c.*2315-1136_*2443+2230del c.2065-1136_2193+2230del c.82-1136_210+2230del c.141-1136_269+2230del c.1402-9032_1402-5538del (n.1402-9032_1402-5538del) c.2401-1136_2529+2230del c.2581-1136_2709+2230del c.2248-1136_2376+2230del | ClinVar |
| 7 | g.117594927_117595056delinsCAGGAGTGCTTTTTTGATGATATGGAGAGCATACCAGCAGTGACTACATGGAACACATACCTTCGATATATTACTGTCCACAAGAGCTTAATTTTTGTGCTAATTTGGTGCTTAGTAATTTTTCTGGCAG | CA1737397630 | CFTR | c.2491-3_2617delinsCAGGAGTGCTTTTTTGATGATATGGAGAGCATACCAGCAGTGACTACATGGAACACATACCTTCGATATATTACTGTCCACAAGAGCTTAATTTTTGTGCTAATTTGGTGCTTAGTAATTTTTCTGGCAG c.*2205-3_*2331delinsCAGGAGTGCTTTTTTGATGATATGGAGAGCATACCAGCAGTGACTACATGGAACACATACCTTCGATATATTACTGTCCACAAGAGCTTAATTTTTGTGCTAATTTGGTGCTTAGTAATTTTTCTGGCAG c.2308-3_2434delinsCAGGAGTGCTTTTTTGATGATATGGAGAGCATACCAGCAGTGACTACATGGAACACATACCTTCGATATATTACTGTCCACAAGAGCTTAATTTTTGTGCTAATTTGGTGCTTAGTAATTTTTCTGGCAG c.*791-3_*917delinsCAGGAGTGCTTTTTTGATGATATGGAGAGCATACCAGCAGTGACTACATGGAACACATACCTTCGATATATTACTGTCCACAAGAGCTTAATTTTTGTGCTAATTTGGTGCTTAGTAATTTTTCTGGCAG c.*2315-3_*2441delinsCAGGAGTGCTTTTTTGATGATATGGAGAGCATACCAGCAGTGACTACATGGAACACATACCTTCGATATATTACTGTCCACAAGAGCTTAATTTTTGTGCTAATTTGGTGCTTAGTAATTTTTCTGGCAG c.2065-3_2191delinsCAGGAGTGCTTTTTTGATGATATGGAGAGCATACCAGCAGTGACTACATGGAACACATACCTTCGATATATTACTGTCCACAAGAGCTTAATTTTTGTGCTAATTTGGTGCTTAGTAATTTTTCTGGCAG c.82-3_208delinsCAGGAGTGCTTTTTTGATGATATGGAGAGCATACCAGCAGTGACTACATGGAACACATACCTTCGATATATTACTGTCCACAAGAGCTTAATTTTTGTGCTAATTTGGTGCTTAGTAATTTTTCTGGCAG c.141-3_267delinsCAGGAGTGCTTTTTTGATGATATGGAGAGCATACCAGCAGTGACTACATGGAACACATACCTTCGATATATTACTGTCCACAAGAGCTTAATTTTTGTGCTAATTTGGTGCTTAGTAATTTTTCTGGCAG c.1402-7899_1402-7770delinsCAGGAGTGCTTTTTTGATGATATGGAGAGCATACCAGCAGTGACTACATGGAACACATACCTTCGATATATTACTGTCCACAAGAGCTTAATTTTTGTGCTAATTTGGTGCTTAGTAATTTTTCTGGCAG (n.1402-7899_1402-7770delinsCAGGAGTGCTTTTTTGATGATATGGAGAGCATACCAGCAGTGACTACATGGAACACATACCTTCGATATATTACTGTCCACAAGAGCTTAATTTTTGTGCTAATTTGGTGCTTAGTAATTTTTCTGGCAG) c.2401-3_2527delinsCAGGAGTGCTTTTTTGATGATATGGAGAGCATACCAGCAGTGACTACATGGAACACATACCTTCGATATATTACTGTCCACAAGAGCTTAATTTTTGTGCTAATTTGGTGCTTAGTAATTTTTCTGGCAG c.2581-3_2707delinsCAGGAGTGCTTTTTTGATGATATGGAGAGCATACCAGCAGTGACTACATGGAACACATACCTTCGATATATTACTGTCCACAAGAGCTTAATTTTTGTGCTAATTTGGTGCTTAGTAATTTTTCTGGCAG c.2248-3_2374delinsCAGGAGTGCTTTTTTGATGATATGGAGAGCATACCAGCAGTGACTACATGGAACACATACCTTCGATATATTACTGTCCACAAGAGCTTAATTTTTGTGCTAATTTGGTGCTTAGTAATTTTTCTGGCAG | |
| 7 | g.117594931_117595059del | CA913190196 | CFTR | c.2492_2619+1del c.*2206_*2333+1del c.2309_2436+1del c.*792_*919+1del c.*2316_*2443+1del c.2066_2193+1del c.83_210+1del c.142_269+1del c.1402-7895_1402-7767del (n.1402-7895_1402-7767del) c.2402_2529+1del c.2582_2709+1del c.2249_2376+1del | ClinVar dbSNP |
| 7 | g.117595022_117595033delinsTGTGCTAATTTG | CA1737362756 | CFTR | c.2583_2594delinsTGTGCTAATTTG (p.Phe861=) c.*2297_*2308delinsTGTGCTAATTTG (n.*2297_*2308delinsTGTGCTAATTTG) c.2400_2411delinsTGTGCTAATTTG (p.Phe800=) c.*883_*894delinsTGTGCTAATTTG (n.*883_*894delinsTGTGCTAATTTG) c.*2407_*2418delinsTGTGCTAATTTG (n.*2407_*2418delinsTGTGCTAATTTG) c.2157_2168delinsTGTGCTAATTTG (p.Phe719=) c.174_185delinsTGTGCTAATTTG (p.Phe58=) c.233_244delinsTGTGCTAATTTG c.1402-7804_1402-7793delinsTGTGCTAATTTG (n.1402-7804_1402-7793delinsTGTGCTAATTTG) c.2493_2504delinsTGTGCTAATTTG (p.Phe831=) c.2673_2684delinsTGTGCTAATTTG (p.Phe891=) c.2340_2351delinsTGTGCTAATTTG (p.Phe780=) | |
| 7 | g.117595023G>A | CA368984009 | CFTR | c.2584G>A (p.Val862Met) c.*2298G>A (n.*2298G>A) c.2401G>A (p.Val801Met) c.*884G>A (n.*884G>A) c.*2408G>A (n.*2408G>A) c.2158G>A (p.Val720Met) c.175G>A (p.Val59Met) c.234G>A c.1402-7803G>A (n.1402-7803G>A) c.2494G>A (p.Val832Met) c.2674G>A (p.Val892Met) c.2341G>A (p.Val781Met) | gnomAD v4 |
| 7 | g.117595023G>C | CA368984010 | CFTR | c.2584G>C (p.Val862Leu) c.*2298G>C (n.*2298G>C) c.2401G>C (p.Val801Leu) c.*884G>C (n.*884G>C) c.*2408G>C (n.*2408G>C) c.2158G>C (p.Val720Leu) c.175G>C (p.Val59Leu) c.234G>C c.1402-7803G>C (n.1402-7803G>C) c.2494G>C (p.Val832Leu) c.2674G>C (p.Val892Leu) c.2341G>C (p.Val781Leu) | |
| 7 | g.117595023G= | CA1737362762 | CFTR | c.2584G= (p.Val862=) c.*2298G= (n.*2298G=) c.2401G= (p.Val801=) c.*884G= (n.*884G=) c.*2408G= (n.*2408G=) c.2158G= (p.Val720=) c.175G= (p.Val59=) c.234G= c.1402-7803G= (n.1402-7803G=) c.2494G= (p.Val832=) c.2674G= (p.Val892=) c.2341G= (p.Val781=) | |
| 7 | g.117595023G>T | CA4451232 | CFTR | c.2584G>T (p.Val862Leu) c.*2298G>T (n.*2298G>T) c.2401G>T (p.Val801Leu) c.*884G>T (n.*884G>T) c.*2408G>T (n.*2408G>T) c.2158G>T (p.Val720Leu) c.175G>T (p.Val59Leu) c.234G>T c.1402-7803G>T (n.1402-7803G>T) c.2494G>T (p.Val832Leu) c.2674G>T (p.Val892Leu) c.2341G>T (p.Val781Leu) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 7 | g.117595028_117595038del | CA326852 | CFTR | c.2589_2599del (p.Ile864SerfsTer28) c.*2303_*2313del (n.*2303_*2313del) c.2406_2416del (p.Ile803SerfsTer28) c.*889_*899del (n.*889_*899del) c.*2413_*2423del (n.*2413_*2423del) c.2163_2173del (p.Ile722SerfsTer28) c.180_190del (p.Ile61SerfsTer28) c.239_249del c.1402-7798_1402-7788del (n.1402-7798_1402-7788del) c.2499_2509del (p.Ile834SerfsTer28) c.2679_2689del (p.Ile894SerfsTer28) c.2346_2356del (p.Ile783SerfsTer28) | ClinVar dbSNP |
| 7 | g.117595024del | CA2695208528 | CFTR | c.2585del (p.Val862GlyfsTer2) c.*2299del (n.*2299del) c.2402del (p.Val801GlyfsTer2) c.*885del (n.*885del) c.*2409del (n.*2409del) c.2159del (p.Val720GlyfsTer2) c.176del (p.Val59GlyfsTer2) c.235del c.1402-7802del (n.1402-7802del) c.2495del (p.Val832GlyfsTer2) c.2675del (p.Val892GlyfsTer2) c.2342del (p.Val781GlyfsTer2) | |
| 7 | g.117595024T>A | CA368984011 | CFTR | c.2585T>A (p.Val862Glu) c.*2299T>A (n.*2299T>A) c.2402T>A (p.Val801Glu) c.*885T>A (n.*885T>A) c.*2409T>A (n.*2409T>A) c.2159T>A (p.Val720Glu) c.176T>A (p.Val59Glu) c.235T>A c.1402-7802T>A (n.1402-7802T>A) c.2495T>A (p.Val832Glu) c.2675T>A (p.Val892Glu) c.2342T>A (p.Val781Glu) | |
| 7 | g.117595024T>C | CA368984012 | CFTR | c.2585T>C (p.Val862Ala) c.*2299T>C (n.*2299T>C) c.2402T>C (p.Val801Ala) c.*885T>C (n.*885T>C) c.*2409T>C (n.*2409T>C) c.2159T>C (p.Val720Ala) c.176T>C (p.Val59Ala) c.235T>C c.1402-7802T>C (n.1402-7802T>C) c.2495T>C (p.Val832Ala) c.2675T>C (p.Val892Ala) c.2342T>C (p.Val781Ala) | |
| 7 | g.117595024T>G | CA368984013 | CFTR | c.2585T>G (p.Val862Gly) c.*2299T>G (n.*2299T>G) c.2402T>G (p.Val801Gly) c.*885T>G (n.*885T>G) c.*2409T>G (n.*2409T>G) c.2159T>G (p.Val720Gly) c.176T>G (p.Val59Gly) c.235T>G c.1402-7802T>G (n.1402-7802T>G) c.2495T>G (p.Val832Gly) c.2675T>G (p.Val892Gly) c.2342T>G (p.Val781Gly) | |
| 7 | g.117595025G>A | CA457227620 | CFTR | c.2586G>A (p.Val862=) c.*2300G>A (n.*2300G>A) c.2403G>A (p.Val801=) c.*886G>A (n.*886G>A) c.*2410G>A (n.*2410G>A) c.2160G>A (p.Val720=) c.177G>A (p.Val59=) c.236G>A c.1402-7801G>A (n.1402-7801G>A) c.2496G>A (p.Val832=) c.2676G>A (p.Val892=) c.2343G>A (p.Val781=) | |
| 7 | g.117595025G>C | CA457227622 | CFTR | c.2586G>C (p.Val862=) c.*2300G>C (n.*2300G>C) c.2403G>C (p.Val801=) c.*886G>C (n.*886G>C) c.*2410G>C (n.*2410G>C) c.2160G>C (p.Val720=) c.177G>C (p.Val59=) c.236G>C c.1402-7801G>C (n.1402-7801G>C) c.2496G>C (p.Val832=) c.2676G>C (p.Val892=) c.2343G>C (p.Val781=) | |
| 7 | g.117595025G>T | CA457227623 | CFTR | c.2586G>T (p.Val862=) c.*2300G>T (n.*2300G>T) c.2403G>T (p.Val801=) c.*886G>T (n.*886G>T) c.*2410G>T (n.*2410G>T) c.2160G>T (p.Val720=) c.177G>T (p.Val59=) c.236G>T c.1402-7801G>T (n.1402-7801G>T) c.2496G>T (p.Val832=) c.2676G>T (p.Val892=) c.2343G>T (p.Val781=) | |
| 7 | g.117595026C>A | CA368984014 | CFTR | c.2587C>A (p.Leu863Ile) c.*2301C>A (n.*2301C>A) c.2404C>A (p.Leu802Ile) c.*887C>A (n.*887C>A) c.*2411C>A (n.*2411C>A) c.2161C>A (p.Leu721Ile) c.178C>A (p.Leu60Ile) c.237C>A c.1402-7800C>A (n.1402-7800C>A) c.2497C>A (p.Leu833Ile) c.2677C>A (p.Leu893Ile) c.2344C>A (p.Leu782Ile) | gnomAD v4 |
| 7 | g.117595026C= | CA1737362764 | CFTR | c.2587C= (p.Leu863=) c.*2301C= (n.*2301C=) c.2404C= (p.Leu802=) c.*887C= (n.*887C=) c.*2411C= (n.*2411C=) c.2161C= (p.Leu721=) c.178C= (p.Leu60=) c.237C= c.1402-7800C= (n.1402-7800C=) c.2497C= (p.Leu833=) c.2677C= (p.Leu893=) c.2344C= (p.Leu782=) | |
| 7 | g.117595026C>G | CA368984015 | CFTR | c.2587C>G (p.Leu863Val) c.*2301C>G (n.*2301C>G) c.2404C>G (p.Leu802Val) c.*887C>G (n.*887C>G) c.*2411C>G (n.*2411C>G) c.2161C>G (p.Leu721Val) c.178C>G (p.Leu60Val) c.237C>G c.1402-7800C>G (n.1402-7800C>G) c.2497C>G (p.Leu833Val) c.2677C>G (p.Leu893Val) c.2344C>G (p.Leu782Val) | |
| 7 | g.117595026C>T | CA457227624 | CFTR | c.2587C>T (p.Leu863=) c.*2301C>T (n.*2301C>T) c.2404C>T (p.Leu802=) c.*887C>T (n.*887C>T) c.*2411C>T (n.*2411C>T) c.2161C>T (p.Leu721=) c.178C>T (p.Leu60=) c.237C>T c.1402-7800C>T (n.1402-7800C>T) c.2497C>T (p.Leu833=) c.2677C>T (p.Leu893=) c.2344C>T (p.Leu782=) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 7 | g.117595027T>A | CA368984018 | CFTR | c.2588T>A (p.Leu863Gln) c.*2302T>A (n.*2302T>A) c.2405T>A (p.Leu802Gln) c.*888T>A (n.*888T>A) c.*2412T>A (n.*2412T>A) c.2162T>A (p.Leu721Gln) c.179T>A (p.Leu60Gln) c.238T>A c.1402-7799T>A (n.1402-7799T>A) c.2498T>A (p.Leu833Gln) c.2678T>A (p.Leu893Gln) c.2345T>A (p.Leu782Gln) | |
| 7 | g.117595027T>C | CA368984016 | CFTR | c.2588T>C (p.Leu863Pro) c.*2302T>C (n.*2302T>C) c.2405T>C (p.Leu802Pro) c.*888T>C (n.*888T>C) c.*2412T>C (n.*2412T>C) c.2162T>C (p.Leu721Pro) c.179T>C (p.Leu60Pro) c.238T>C c.1402-7799T>C (n.1402-7799T>C) c.2498T>C (p.Leu833Pro) c.2678T>C (p.Leu893Pro) c.2345T>C (p.Leu782Pro) | gnomAD v4 |
| 7 | g.117595027T>G | CA368984017 | CFTR | c.2588T>G (p.Leu863Arg) c.*2302T>G (n.*2302T>G) c.2405T>G (p.Leu802Arg) c.*888T>G (n.*888T>G) c.*2412T>G (n.*2412T>G) c.2162T>G (p.Leu721Arg) c.179T>G (p.Leu60Arg) c.238T>G c.1402-7799T>G (n.1402-7799T>G) c.2498T>G (p.Leu833Arg) c.2678T>G (p.Leu893Arg) c.2345T>G (p.Leu782Arg) | |
| 7 | g.117595028A>C | CA457227628 | CFTR | c.2589A>C (p.Leu863=) c.*2303A>C (n.*2303A>C) c.2406A>C (p.Leu802=) c.*889A>C (n.*889A>C) c.*2413A>C (n.*2413A>C) c.2163A>C (p.Leu721=) c.180A>C (p.Leu60=) c.239A>C c.1402-7798A>C (n.1402-7798A>C) c.2499A>C (p.Leu833=) c.2679A>C (p.Leu893=) c.2346A>C (p.Leu782=) | |
| 7 | g.117595028A>G | CA457227629 | CFTR | c.2589A>G (p.Leu863=) c.*2303A>G (n.*2303A>G) c.2406A>G (p.Leu802=) c.*889A>G (n.*889A>G) c.*2413A>G (n.*2413A>G) c.2163A>G (p.Leu721=) c.180A>G (p.Leu60=) c.239A>G c.1402-7798A>G (n.1402-7798A>G) c.2499A>G (p.Leu833=) c.2679A>G (p.Leu893=) c.2346A>G (p.Leu782=) | |
| 7 | g.117595028A>T | CA457227630 | CFTR | c.2589A>T (p.Leu863=) c.*2303A>T (n.*2303A>T) c.2406A>T (p.Leu802=) c.*889A>T (n.*889A>T) c.*2413A>T (n.*2413A>T) c.2163A>T (p.Leu721=) c.180A>T (p.Leu60=) c.239A>T c.1402-7798A>T (n.1402-7798A>T) c.2499A>T (p.Leu833=) c.2679A>T (p.Leu893=) c.2346A>T (p.Leu782=) | |
| 7 | g.117595029A>C | CA368984019 | CFTR | c.2590A>C (p.Ile864Leu) c.*2304A>C (n.*2304A>C) c.2407A>C (p.Ile803Leu) c.*890A>C (n.*890A>C) c.*2414A>C (n.*2414A>C) c.2164A>C (p.Ile722Leu) c.181A>C (p.Ile61Leu) c.240A>C c.1402-7797A>C (n.1402-7797A>C) c.2500A>C (p.Ile834Leu) c.2680A>C (p.Ile894Leu) c.2347A>C (p.Ile783Leu) | |
| 7 | g.117595029A>G | CA368984020 | CFTR | c.2590A>G (p.Ile864Val) c.*2304A>G (n.*2304A>G) c.2407A>G (p.Ile803Val) c.*890A>G (n.*890A>G) c.*2414A>G (n.*2414A>G) c.2164A>G (p.Ile722Val) c.181A>G (p.Ile61Val) c.240A>G c.1402-7797A>G (n.1402-7797A>G) c.2500A>G (p.Ile834Val) c.2680A>G (p.Ile894Val) c.2347A>G (p.Ile783Val) | |
| 7 | g.117595029A>T | CA368984021 | CFTR | c.2590A>T (p.Ile864Phe) c.*2304A>T (n.*2304A>T) c.2407A>T (p.Ile803Phe) c.*890A>T (n.*890A>T) c.*2414A>T (n.*2414A>T) c.2164A>T (p.Ile722Phe) c.181A>T (p.Ile61Phe) c.240A>T c.1402-7797A>T (n.1402-7797A>T) c.2500A>T (p.Ile834Phe) c.2680A>T (p.Ile894Phe) c.2347A>T (p.Ile783Phe) | |
| 7 | g.117595029_117595031delinsATT | CA1737362766 | CFTR | c.2590_2592delinsATT (p.Ile864=) c.*2304_*2306delinsATT (n.*2304_*2306delinsATT) c.2407_2409delinsATT (p.Ile803=) c.*890_*892delinsATT (n.*890_*892delinsATT) c.*2414_*2416delinsATT (n.*2414_*2416delinsATT) c.2164_2166delinsATT (p.Ile722=) c.181_183delinsATT (p.Ile61=) c.240_242delinsATT c.1402-7797_1402-7795delinsATT (n.1402-7797_1402-7795delinsATT) c.2500_2502delinsATT (p.Ile834=) c.2680_2682delinsATT (p.Ile894=) c.2347_2349delinsATT (p.Ile783=) | |
| 7 | g.117595030T>A | CA368984022 | CFTR | c.2591T>A (p.Ile864Asn) c.*2305T>A (n.*2305T>A) c.2408T>A (p.Ile803Asn) c.*891T>A (n.*891T>A) c.*2415T>A (n.*2415T>A) c.2165T>A (p.Ile722Asn) c.182T>A (p.Ile61Asn) c.241T>A c.1402-7796T>A (n.1402-7796T>A) c.2501T>A (p.Ile834Asn) c.2681T>A (p.Ile894Asn) c.2348T>A (p.Ile783Asn) | |
| 7 | g.117595030T>C | CA368984023 | CFTR | c.2591T>C (p.Ile864Thr) c.*2305T>C (n.*2305T>C) c.2408T>C (p.Ile803Thr) c.*891T>C (n.*891T>C) c.*2415T>C (n.*2415T>C) c.2165T>C (p.Ile722Thr) c.182T>C (p.Ile61Thr) c.241T>C c.1402-7796T>C (n.1402-7796T>C) c.2501T>C (p.Ile834Thr) c.2681T>C (p.Ile894Thr) c.2348T>C (p.Ile783Thr) | |
| 7 | g.117595030T>G | CA368984024 | CFTR | c.2591T>G (p.Ile864Ser) c.*2305T>G (n.*2305T>G) c.2408T>G (p.Ile803Ser) c.*891T>G (n.*891T>G) c.*2415T>G (n.*2415T>G) c.2165T>G (p.Ile722Ser) c.182T>G (p.Ile61Ser) c.241T>G c.1402-7796T>G (n.1402-7796T>G) c.2501T>G (p.Ile834Ser) c.2681T>G (p.Ile894Ser) c.2348T>G (p.Ile783Ser) | |
| 7 | g.117595031_117595032del | CA326853 | CFTR | c.2592_2593del (p.Ile864MetfsTer?) c.*2306_*2307del (n.*2306_*2307del) c.2409_2410del (p.Ile803MetfsTer?) c.*892_*893del (n.*892_*893del) c.*2416_*2417del (n.*2416_*2417del) c.2166_2167del (p.Ile722MetfsTer?) c.183_184del (p.Ile61MetfsTer?) c.242_243del c.1402-7795_1402-7794del (n.1402-7795_1402-7794del) c.2502_2503del (p.Ile834MetfsTer?) c.2682_2683del (p.Ile894MetfsTer?) c.2349_2350del (p.Ile783MetfsTer?) | ClinVar dbSNP |
| 7 | g.117595031T>A | CA457227633 | CFTR | c.2592T>A (p.Ile864=) c.*2306T>A (n.*2306T>A) c.2409T>A (p.Ile803=) c.*892T>A (n.*892T>A) c.*2416T>A (n.*2416T>A) c.2166T>A (p.Ile722=) c.183T>A (p.Ile61=) c.242T>A c.1402-7795T>A (n.1402-7795T>A) c.2502T>A (p.Ile834=) c.2682T>A (p.Ile894=) c.2349T>A (p.Ile783=) | gnomAD v4 |
| 7 | g.117595031T>C | CA457227632 | CFTR | c.2592T>C (p.Ile864=) c.*2306T>C (n.*2306T>C) c.2409T>C (p.Ile803=) c.*892T>C (n.*892T>C) c.*2416T>C (n.*2416T>C) c.2166T>C (p.Ile722=) c.183T>C (p.Ile61=) c.242T>C c.1402-7795T>C (n.1402-7795T>C) c.2502T>C (p.Ile834=) c.2682T>C (p.Ile894=) c.2349T>C (p.Ile783=) | dbSNP gnomAD v4 |
| 7 | g.117595031T>G | CA368984025 | CFTR | c.2592T>G (p.Ile864Met) c.*2306T>G (n.*2306T>G) c.2409T>G (p.Ile803Met) c.*892T>G (n.*892T>G) c.*2416T>G (n.*2416T>G) c.2166T>G (p.Ile722Met) c.183T>G (p.Ile61Met) c.242T>G c.1402-7795T>G (n.1402-7795T>G) c.2502T>G (p.Ile834Met) c.2682T>G (p.Ile894Met) c.2349T>G (p.Ile783Met) | |
| 7 | g.117595031T= | CA1737362773 | CFTR | c.2592T= (p.Ile864=) c.*2306T= (n.*2306T=) c.2409T= (p.Ile803=) c.*892T= (n.*892T=) c.*2416T= (n.*2416T=) c.2166T= (p.Ile722=) c.183T= (p.Ile61=) c.242T= c.1402-7795T= (n.1402-7795T=) c.2502T= (p.Ile834=) c.2682T= (p.Ile894=) c.2349T= (p.Ile783=) | |
| 7 | g.117595032T>A | CA368984026 | CFTR | c.2593T>A (p.Trp865Arg) c.*2307T>A (n.*2307T>A) c.2410T>A (p.Trp804Arg) c.*893T>A (n.*893T>A) c.*2417T>A (n.*2417T>A) c.2167T>A (p.Trp723Arg) c.184T>A (p.Trp62Arg) c.243T>A c.1402-7794T>A (n.1402-7794T>A) c.2503T>A (p.Trp835Arg) c.2683T>A (p.Trp895Arg) c.2350T>A (p.Trp784Arg) | |
| 7 | g.117595032T>C | CA368984027 | CFTR | c.2593T>C (p.Trp865Arg) c.*2307T>C (n.*2307T>C) c.2410T>C (p.Trp804Arg) c.*893T>C (n.*893T>C) c.*2417T>C (n.*2417T>C) c.2167T>C (p.Trp723Arg) c.184T>C (p.Trp62Arg) c.243T>C c.1402-7794T>C (n.1402-7794T>C) c.2503T>C (p.Trp835Arg) c.2683T>C (p.Trp895Arg) c.2350T>C (p.Trp784Arg) | |
| 7 | g.117595032T>G | CA368984028 | CFTR | c.2593T>G (p.Trp865Gly) c.*2307T>G (n.*2307T>G) c.2410T>G (p.Trp804Gly) c.*893T>G (n.*893T>G) c.*2417T>G (n.*2417T>G) c.2167T>G (p.Trp723Gly) c.184T>G (p.Trp62Gly) c.243T>G c.1402-7794T>G (n.1402-7794T>G) c.2503T>G (p.Trp835Gly) c.2683T>G (p.Trp895Gly) c.2350T>G (p.Trp784Gly) | |
| 7 | g.117595033G>A | CA368984031 | CFTR | c.2594G>A (p.Trp865Ter) c.*2308G>A (n.*2308G>A) c.2411G>A (p.Trp804Ter) c.*894G>A (n.*894G>A) c.*2418G>A (n.*2418G>A) c.2168G>A (p.Trp723Ter) c.185G>A (p.Trp62Ter) c.244G>A c.1402-7793G>A (n.1402-7793G>A) c.2504G>A (p.Trp835Ter) c.2684G>A (p.Trp895Ter) c.2351G>A (p.Trp784Ter) | |
| 7 | g.117595033G>C | CA368984030 | CFTR | c.2594G>C (p.Trp865Ser) c.*2308G>C (n.*2308G>C) c.2411G>C (p.Trp804Ser) c.*894G>C (n.*894G>C) c.*2418G>C (n.*2418G>C) c.2168G>C (p.Trp723Ser) c.185G>C (p.Trp62Ser) c.244G>C c.1402-7793G>C (n.1402-7793G>C) c.2504G>C (p.Trp835Ser) c.2684G>C (p.Trp895Ser) c.2351G>C (p.Trp784Ser) | |
| 7 | g.117595033G>T | CA368984029 | CFTR | c.2594G>T (p.Trp865Leu) c.*2308G>T (n.*2308G>T) c.2411G>T (p.Trp804Leu) c.*894G>T (n.*894G>T) c.*2418G>T (n.*2418G>T) c.2168G>T (p.Trp723Leu) c.185G>T (p.Trp62Leu) c.244G>T c.1402-7793G>T (n.1402-7793G>T) c.2504G>T (p.Trp835Leu) c.2684G>T (p.Trp895Leu) c.2351G>T (p.Trp784Leu) | gnomAD v4 |
| 7 | g.117595034G>A | CA368984032 | CFTR | c.2595G>A (p.Trp865Ter) c.*2309G>A (n.*2309G>A) c.2412G>A (p.Trp804Ter) c.*895G>A (n.*895G>A) c.*2419G>A (n.*2419G>A) c.2169G>A (p.Trp723Ter) c.186G>A (p.Trp62Ter) c.245G>A c.1402-7792G>A (n.1402-7792G>A) c.2505G>A (p.Trp835Ter) c.2685G>A (p.Trp895Ter) c.2352G>A (p.Trp784Ter) | |
| 7 | g.117595034G>C | CA368984034 | CFTR | c.2595G>C (p.Trp865Cys) c.*2309G>C (n.*2309G>C) c.2412G>C (p.Trp804Cys) c.*895G>C (n.*895G>C) c.*2419G>C (n.*2419G>C) c.2169G>C (p.Trp723Cys) c.186G>C (p.Trp62Cys) c.245G>C c.1402-7792G>C (n.1402-7792G>C) c.2505G>C (p.Trp835Cys) c.2685G>C (p.Trp895Cys) c.2352G>C (p.Trp784Cys) | |
| 7 | g.117595034G>T | CA368984033 | CFTR | c.2595G>T (p.Trp865Cys) c.*2309G>T (n.*2309G>T) c.2412G>T (p.Trp804Cys) c.*895G>T (n.*895G>T) c.*2419G>T (n.*2419G>T) c.2169G>T (p.Trp723Cys) c.186G>T (p.Trp62Cys) c.245G>T c.1402-7792G>T (n.1402-7792G>T) c.2505G>T (p.Trp835Cys) c.2685G>T (p.Trp895Cys) c.2352G>T (p.Trp784Cys) | |
| 7 | g.117595035T>A | CA368984035 | CFTR | c.2596T>A (p.Cys866Ser) c.*2310T>A (n.*2310T>A) c.2413T>A (p.Cys805Ser) c.*896T>A (n.*896T>A) c.*2420T>A (n.*2420T>A) c.2170T>A (p.Cys724Ser) c.187T>A (p.Cys63Ser) c.246T>A c.1402-7791T>A (n.1402-7791T>A) c.2506T>A (p.Cys836Ser) c.2686T>A (p.Cys896Ser) c.2353T>A (p.Cys785Ser) |