| 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.117595017_117595018delinsAT | CA1737362741 | CFTR | c.2578_2579delinsAT (p.Ile860=) c.*2292_*2293delinsAT (n.*2292_*2293delinsAT) c.2395_2396delinsAT (p.Ile799=) c.*878_*879delinsAT (n.*878_*879delinsAT) c.*2402_*2403delinsAT (n.*2402_*2403delinsAT) c.2152_2153delinsAT (p.Ile718=) c.169_170delinsAT (p.Ile57=) c.228_229delinsAT c.1402-7809_1402-7808delinsAT (n.1402-7809_1402-7808delinsAT) c.2488_2489delinsAT (p.Ile830=) c.2668_2669delinsAT (p.Ile890=) c.2335_2336delinsAT (p.Ile779=) | |
| 7 | g.117595018T>A | CA368983997 | CFTR | c.2579T>A (p.Ile860Asn) c.*2293T>A (n.*2293T>A) c.2396T>A (p.Ile799Asn) c.*879T>A (n.*879T>A) c.*2403T>A (n.*2403T>A) c.2153T>A (p.Ile718Asn) c.170T>A (p.Ile57Asn) c.229T>A c.1402-7808T>A (n.1402-7808T>A) c.2489T>A (p.Ile830Asn) c.2669T>A (p.Ile890Asn) c.2336T>A (p.Ile779Asn) | |
| 7 | g.117595018T>C | CA368983998 | CFTR | c.2579T>C (p.Ile860Thr) c.*2293T>C (n.*2293T>C) c.2396T>C (p.Ile799Thr) c.*879T>C (n.*879T>C) c.*2403T>C (n.*2403T>C) c.2153T>C (p.Ile718Thr) c.170T>C (p.Ile57Thr) c.229T>C c.1402-7808T>C (n.1402-7808T>C) c.2489T>C (p.Ile830Thr) c.2669T>C (p.Ile890Thr) c.2336T>C (p.Ile779Thr) | ClinVar dbSNP |
| 7 | g.117595018T>G | CA368983999 | CFTR | c.2579T>G (p.Ile860Ser) c.*2293T>G (n.*2293T>G) c.2396T>G (p.Ile799Ser) c.*879T>G (n.*879T>G) c.*2403T>G (n.*2403T>G) c.2153T>G (p.Ile718Ser) c.170T>G (p.Ile57Ser) c.229T>G c.1402-7808T>G (n.1402-7808T>G) c.2489T>G (p.Ile830Ser) c.2669T>G (p.Ile890Ser) c.2336T>G (p.Ile779Ser) | COSMIC |
| 7 | g.117595018T= | CA1737362748 | CFTR | c.2579T= (p.Ile860=) c.*2293T= (n.*2293T=) c.2396T= (p.Ile799=) c.*879T= (n.*879T=) c.*2403T= (n.*2403T=) c.2153T= (p.Ile718=) c.170T= (p.Ile57=) c.229T= c.1402-7808T= (n.1402-7808T=) c.2489T= (p.Ile830=) c.2669T= (p.Ile890=) c.2336T= (p.Ile779=) | |
| 7 | g.117595022del | CA328105 | CFTR | c.2583del (p.Phe861LeufsTer3) c.*2297del (n.*2297del) c.2400del (p.Phe800LeufsTer3) c.*883del (n.*883del) c.*2407del (n.*2407del) c.2157del (p.Phe719LeufsTer3) c.174del (p.Phe58LeufsTer3) c.233del c.1402-7804del (n.1402-7804del) c.2493del (p.Phe831LeufsTer3) c.2673del (p.Phe891LeufsTer3) c.2340del (p.Phe780LeufsTer3) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117595018_117595019insGG | CA2520184526 | CFTR | c.2579_2580insGG (p.Ile860MetfsTer5) c.*2293_*2294insGG (n.*2293_*2294insGG) c.2396_2397insGG (p.Ile799MetfsTer5) c.*879_*880insGG (n.*879_*880insGG) c.*2403_*2404insGG (n.*2403_*2404insGG) c.2153_2154insGG (p.Ile718MetfsTer5) c.170_171insGG (p.Ile57MetfsTer5) c.229_230insGG c.1402-7808_1402-7807insGG (n.1402-7808_1402-7807insGG) c.2489_2490insGG (p.Ile830MetfsTer5) c.2669_2670insGG (p.Ile890MetfsTer5) c.2336_2337insGG (p.Ile779MetfsTer5) | |
| 7 | g.117595019T>A | CA457227615 | CFTR | c.2580T>A (p.Ile860=) c.*2294T>A (n.*2294T>A) c.2397T>A (p.Ile799=) c.*880T>A (n.*880T>A) c.*2404T>A (n.*2404T>A) c.2154T>A (p.Ile718=) c.171T>A (p.Ile57=) c.230T>A c.1402-7807T>A (n.1402-7807T>A) c.2490T>A (p.Ile830=) c.2670T>A (p.Ile890=) c.2337T>A (p.Ile779=) | |
| 7 | g.117595019T>C | CA457227616 | CFTR | c.2580T>C (p.Ile860=) c.*2294T>C (n.*2294T>C) c.2397T>C (p.Ile799=) c.*880T>C (n.*880T>C) c.*2404T>C (n.*2404T>C) c.2154T>C (p.Ile718=) c.171T>C (p.Ile57=) c.230T>C c.1402-7807T>C (n.1402-7807T>C) c.2490T>C (p.Ile830=) c.2670T>C (p.Ile890=) c.2337T>C (p.Ile779=) | |
| 7 | g.117595019T>G | CA368984000 | CFTR | c.2580T>G (p.Ile860Met) c.*2294T>G (n.*2294T>G) c.2397T>G (p.Ile799Met) c.*880T>G (n.*880T>G) c.*2404T>G (n.*2404T>G) c.2154T>G (p.Ile718Met) c.171T>G (p.Ile57Met) c.230T>G c.1402-7807T>G (n.1402-7807T>G) c.2490T>G (p.Ile830Met) c.2670T>G (p.Ile890Met) c.2337T>G (p.Ile779Met) | |
| 7 | g.117595020T>A | CA368984003 | CFTR | c.2581T>A (p.Phe861Ile) c.*2295T>A (n.*2295T>A) c.2398T>A (p.Phe800Ile) c.*881T>A (n.*881T>A) c.*2405T>A (n.*2405T>A) c.2155T>A (p.Phe719Ile) c.172T>A (p.Phe58Ile) c.231T>A c.1402-7806T>A (n.1402-7806T>A) c.2491T>A (p.Phe831Ile) c.2671T>A (p.Phe891Ile) c.2338T>A (p.Phe780Ile) | |
| 7 | g.117595020T>C | CA368984002 | CFTR | c.2581T>C (p.Phe861Leu) c.*2295T>C (n.*2295T>C) c.2398T>C (p.Phe800Leu) c.*881T>C (n.*881T>C) c.*2405T>C (n.*2405T>C) c.2155T>C (p.Phe719Leu) c.172T>C (p.Phe58Leu) c.231T>C c.1402-7806T>C (n.1402-7806T>C) c.2491T>C (p.Phe831Leu) c.2671T>C (p.Phe891Leu) c.2338T>C (p.Phe780Leu) | |
| 7 | g.117595020T>G | CA368984001 | CFTR | c.2581T>G (p.Phe861Val) c.*2295T>G (n.*2295T>G) c.2398T>G (p.Phe800Val) c.*881T>G (n.*881T>G) c.*2405T>G (n.*2405T>G) c.2155T>G (p.Phe719Val) c.172T>G (p.Phe58Val) c.231T>G c.1402-7806T>G (n.1402-7806T>G) c.2491T>G (p.Phe831Val) c.2671T>G (p.Phe891Val) c.2338T>G (p.Phe780Val) | |
| 7 | g.117595021T>A | CA368984004 | CFTR | c.2582T>A (p.Phe861Tyr) c.*2296T>A (n.*2296T>A) c.2399T>A (p.Phe800Tyr) c.*882T>A (n.*882T>A) c.*2406T>A (n.*2406T>A) c.2156T>A (p.Phe719Tyr) c.173T>A (p.Phe58Tyr) c.232T>A c.1402-7805T>A (n.1402-7805T>A) c.2492T>A (p.Phe831Tyr) c.2672T>A (p.Phe891Tyr) c.2339T>A (p.Phe780Tyr) | |
| 7 | g.117595021T>C | CA368984006 | CFTR | c.2582T>C (p.Phe861Ser) c.*2296T>C (n.*2296T>C) c.2399T>C (p.Phe800Ser) c.*882T>C (n.*882T>C) c.*2406T>C (n.*2406T>C) c.2156T>C (p.Phe719Ser) c.173T>C (p.Phe58Ser) c.232T>C c.1402-7805T>C (n.1402-7805T>C) c.2492T>C (p.Phe831Ser) c.2672T>C (p.Phe891Ser) c.2339T>C (p.Phe780Ser) | dbSNP |
| 7 | g.117595021T>G | CA368984005 | CFTR | c.2582T>G (p.Phe861Cys) c.*2296T>G (n.*2296T>G) c.2399T>G (p.Phe800Cys) c.*882T>G (n.*882T>G) c.*2406T>G (n.*2406T>G) c.2156T>G (p.Phe719Cys) c.173T>G (p.Phe58Cys) c.232T>G c.1402-7805T>G (n.1402-7805T>G) c.2492T>G (p.Phe831Cys) c.2672T>G (p.Phe891Cys) c.2339T>G (p.Phe780Cys) | gnomAD v4 |
| 7 | g.117595021T= | CA1737362751 | CFTR | c.2582T= (p.Phe861=) c.*2296T= (n.*2296T=) c.2399T= (p.Phe800=) c.*882T= (n.*882T=) c.*2406T= (n.*2406T=) c.2156T= (p.Phe719=) c.173T= (p.Phe58=) c.232T= c.1402-7805T= (n.1402-7805T=) c.2492T= (p.Phe831=) c.2672T= (p.Phe891=) c.2339T= (p.Phe780=) | |
| 7 | g.117595022T>A | CA368984007 | CFTR | c.2583T>A (p.Phe861Leu) c.*2297T>A (n.*2297T>A) c.2400T>A (p.Phe800Leu) c.*883T>A (n.*883T>A) c.*2407T>A (n.*2407T>A) c.2157T>A (p.Phe719Leu) c.174T>A (p.Phe58Leu) c.233T>A c.1402-7804T>A (n.1402-7804T>A) c.2493T>A (p.Phe831Leu) c.2673T>A (p.Phe891Leu) c.2340T>A (p.Phe780Leu) | |
| 7 | g.117595022T>C | CA457227618 | CFTR | c.2583T>C (p.Phe861=) c.*2297T>C (n.*2297T>C) c.2400T>C (p.Phe800=) c.*883T>C (n.*883T>C) c.*2407T>C (n.*2407T>C) c.2157T>C (p.Phe719=) c.174T>C (p.Phe58=) c.233T>C c.1402-7804T>C (n.1402-7804T>C) c.2493T>C (p.Phe831=) c.2673T>C (p.Phe891=) c.2340T>C (p.Phe780=) | |
| 7 | g.117595022T>G | CA368984008 | CFTR | c.2583T>G (p.Phe861Leu) c.*2297T>G (n.*2297T>G) c.2400T>G (p.Phe800Leu) c.*883T>G (n.*883T>G) c.*2407T>G (n.*2407T>G) c.2157T>G (p.Phe719Leu) c.174T>G (p.Phe58Leu) c.233T>G c.1402-7804T>G (n.1402-7804T>G) c.2493T>G (p.Phe831Leu) c.2673T>G (p.Phe891Leu) c.2340T>G (p.Phe780Leu) | |
| 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) | ClinVar 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=) | ClinVar 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=) | ClinVar |
| 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) |