Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.117591251_117595608delinsCTACATTTGTACTACA2580076490CFTRc.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
7g.117593484_117599275delCA2580076573CFTRc.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
7g.117593794_117597288delCA1139660206CFTRc.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
7g.117594927_117595056delinsCAGGAGTGCTTTTTTGATGATATGGAGAGCATACCAGCAGTGACTACATGGAACACATACCTTCGATATATTACTGTCCACAAGAGCTTAATTTTTGTGCTAATTTGGTGCTTAGTAATTTTTCTGGCAGCA1737397630CFTRc.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
7g.117594931_117595059delCA913190196CFTRc.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
7g.117594935_117594936delinsCTCA1737397673CFTRc.2496_2497delinsCT (p.Cys832=)
c.*2210_*2211delinsCT (n.*2210_*2211delinsCT)
c.2313_2314delinsCT (p.Cys771=)
c.*796_*797delinsCT (n.*796_*797delinsCT)
c.*2320_*2321delinsCT (n.*2320_*2321delinsCT)
c.2070_2071delinsCT (p.Cys690=)
c.87_88delinsCT (p.Cys29=)
c.146_147delinsCT
c.1402-7891_1402-7890delinsCT (n.1402-7891_1402-7890delinsCT)
c.2406_2407delinsCT (p.Cys802=)
c.2586_2587delinsCT (p.Cys862=)
c.2253_2254delinsCT (p.Cys751=)
7g.117594936T>ACA368983792CFTRc.2497T>A (p.Phe833Ile)
c.*2211T>A (n.*2211T>A)
c.2314T>A (p.Phe772Ile)
c.*797T>A (n.*797T>A)
c.*2321T>A (n.*2321T>A)
c.2071T>A (p.Phe691Ile)
c.88T>A (p.Phe30Ile)
c.147T>A
c.1402-7890T>A (n.1402-7890T>A)
c.2407T>A (p.Phe803Ile)
c.2587T>A (p.Phe863Ile)
c.2254T>A (p.Phe752Ile)
7g.117594936T>CCA368983794CFTRc.2497T>C (p.Phe833Leu)
c.*2211T>C (n.*2211T>C)
c.2314T>C (p.Phe772Leu)
c.*797T>C (n.*797T>C)
c.*2321T>C (n.*2321T>C)
c.2071T>C (p.Phe691Leu)
c.88T>C (p.Phe30Leu)
c.147T>C
c.1402-7890T>C (n.1402-7890T>C)
c.2407T>C (p.Phe803Leu)
c.2587T>C (p.Phe863Leu)
c.2254T>C (p.Phe752Leu)
 COSMIC
7g.117594936T>GCA368983795CFTRc.2497T>G (p.Phe833Val)
c.*2211T>G (n.*2211T>G)
c.2314T>G (p.Phe772Val)
c.*797T>G (n.*797T>G)
c.*2321T>G (n.*2321T>G)
c.2071T>G (p.Phe691Val)
c.88T>G (p.Phe30Val)
c.147T>G
c.1402-7890T>G (n.1402-7890T>G)
c.2407T>G (p.Phe803Val)
c.2587T>G (p.Phe863Val)
c.2254T>G (p.Phe752Val)
7g.117594941dupCA326834CFTRc.2502dup (p.Asp835Ter)
c.*2216dup (n.*2216dup)
c.2319dup (p.Asp774Ter)
c.*802dup (n.*802dup)
c.*2326dup (n.*2326dup)
c.2076dup (p.Asp693Ter)
c.93dup (p.Asp32Ter)
c.152dup
c.1402-7885dup (n.1402-7885dup)
c.2412dup (p.Asp805Ter)
c.2592dup (p.Asp865Ter)
c.2259dup (p.Asp754Ter)
 ClinVar dbSNP gnomAD v2
7g.117594941delCA326835CFTRc.2502del (p.Phe834LeufsTer10)
c.*2216del (n.*2216del)
c.2319del (p.Phe773LeufsTer10)
c.*802del (n.*802del)
c.*2326del (n.*2326del)
c.2076del (p.Phe692LeufsTer10)
c.93del (p.Phe31LeufsTer10)
c.152del
c.1402-7885del (n.1402-7885del)
c.2412del (p.Phe804LeufsTer10)
c.2592del (p.Phe864LeufsTer10)
c.2259del (p.Phe753LeufsTer10)
 ClinVar dbSNP gnomAD v4
7g.117594937T>ACA368983797CFTRc.2498T>A (p.Phe833Tyr)
c.*2212T>A (n.*2212T>A)
c.2315T>A (p.Phe772Tyr)
c.*798T>A (n.*798T>A)
c.*2322T>A (n.*2322T>A)
c.2072T>A (p.Phe691Tyr)
c.89T>A (p.Phe30Tyr)
c.148T>A
c.1402-7889T>A (n.1402-7889T>A)
c.2408T>A (p.Phe803Tyr)
c.2588T>A (p.Phe863Tyr)
c.2255T>A (p.Phe752Tyr)
7g.117594937T>CCA368983800CFTRc.2498T>C (p.Phe833Ser)
c.*2212T>C (n.*2212T>C)
c.2315T>C (p.Phe772Ser)
c.*798T>C (n.*798T>C)
c.*2322T>C (n.*2322T>C)
c.2072T>C (p.Phe691Ser)
c.89T>C (p.Phe30Ser)
c.148T>C
c.1402-7889T>C (n.1402-7889T>C)
c.2408T>C (p.Phe803Ser)
c.2588T>C (p.Phe863Ser)
c.2255T>C (p.Phe752Ser)
7g.117594937T>GCA368983799CFTRc.2498T>G (p.Phe833Cys)
c.*2212T>G (n.*2212T>G)
c.2315T>G (p.Phe772Cys)
c.*798T>G (n.*798T>G)
c.*2322T>G (n.*2322T>G)
c.2072T>G (p.Phe691Cys)
c.89T>G (p.Phe30Cys)
c.148T>G
c.1402-7889T>G (n.1402-7889T>G)
c.2408T>G (p.Phe803Cys)
c.2588T>G (p.Phe863Cys)
c.2255T>G (p.Phe752Cys)
7g.117594938T>ACA368983803CFTRc.2499T>A (p.Phe833Leu)
c.*2213T>A (n.*2213T>A)
c.2316T>A (p.Phe772Leu)
c.*799T>A (n.*799T>A)
c.*2323T>A (n.*2323T>A)
c.2073T>A (p.Phe691Leu)
c.90T>A (p.Phe30Leu)
c.149T>A
c.1402-7888T>A (n.1402-7888T>A)
c.2409T>A (p.Phe803Leu)
c.2589T>A (p.Phe863Leu)
c.2256T>A (p.Phe752Leu)
7g.117594938T>CCA457227560CFTRc.2499T>C (p.Phe833=)
c.*2213T>C (n.*2213T>C)
c.2316T>C (p.Phe772=)
c.*799T>C (n.*799T>C)
c.*2323T>C (n.*2323T>C)
c.2073T>C (p.Phe691=)
c.90T>C (p.Phe30=)
c.149T>C
c.1402-7888T>C (n.1402-7888T>C)
c.2409T>C (p.Phe803=)
c.2589T>C (p.Phe863=)
c.2256T>C (p.Phe752=)
7g.117594938T>GCA368983804CFTRc.2499T>G (p.Phe833Leu)
c.*2213T>G (n.*2213T>G)
c.2316T>G (p.Phe772Leu)
c.*799T>G (n.*799T>G)
c.*2323T>G (n.*2323T>G)
c.2073T>G (p.Phe691Leu)
c.90T>G (p.Phe30Leu)
c.149T>G
c.1402-7888T>G (n.1402-7888T>G)
c.2409T>G (p.Phe803Leu)
c.2589T>G (p.Phe863Leu)
c.2256T>G (p.Phe752Leu)
 gnomAD v4
7g.117594939T>ACA368983807CFTRc.2500T>A (p.Phe834Ile)
c.*2214T>A (n.*2214T>A)
c.2317T>A (p.Phe773Ile)
c.*800T>A (n.*800T>A)
c.*2324T>A (n.*2324T>A)
c.2074T>A (p.Phe692Ile)
c.91T>A (p.Phe31Ile)
c.150T>A
c.1402-7887T>A (n.1402-7887T>A)
c.2410T>A (p.Phe804Ile)
c.2590T>A (p.Phe864Ile)
c.2257T>A (p.Phe753Ile)
7g.117594939T>CCA368983808CFTRc.2500T>C (p.Phe834Leu)
c.*2214T>C (n.*2214T>C)
c.2317T>C (p.Phe773Leu)
c.*800T>C (n.*800T>C)
c.*2324T>C (n.*2324T>C)
c.2074T>C (p.Phe692Leu)
c.91T>C (p.Phe31Leu)
c.150T>C
c.1402-7887T>C (n.1402-7887T>C)
c.2410T>C (p.Phe804Leu)
c.2590T>C (p.Phe864Leu)
c.2257T>C (p.Phe753Leu)
7g.117594939T>GCA368983809CFTRc.2500T>G (p.Phe834Val)
c.*2214T>G (n.*2214T>G)
c.2317T>G (p.Phe773Val)
c.*800T>G (n.*800T>G)
c.*2324T>G (n.*2324T>G)
c.2074T>G (p.Phe692Val)
c.91T>G (p.Phe31Val)
c.150T>G
c.1402-7887T>G (n.1402-7887T>G)
c.2410T>G (p.Phe804Val)
c.2590T>G (p.Phe864Val)
c.2257T>G (p.Phe753Val)
7g.117594940T>ACA368983811CFTRc.2501T>A (p.Phe834Tyr)
c.*2215T>A (n.*2215T>A)
c.2318T>A (p.Phe773Tyr)
c.*801T>A (n.*801T>A)
c.*2325T>A (n.*2325T>A)
c.2075T>A (p.Phe692Tyr)
c.92T>A (p.Phe31Tyr)
c.151T>A
c.1402-7886T>A (n.1402-7886T>A)
c.2411T>A (p.Phe804Tyr)
c.2591T>A (p.Phe864Tyr)
c.2258T>A (p.Phe753Tyr)
7g.117594940T>CCA368983813CFTRc.2501T>C (p.Phe834Ser)
c.*2215T>C (n.*2215T>C)
c.2318T>C (p.Phe773Ser)
c.*801T>C (n.*801T>C)
c.*2325T>C (n.*2325T>C)
c.2075T>C (p.Phe692Ser)
c.92T>C (p.Phe31Ser)
c.151T>C
c.1402-7886T>C (n.1402-7886T>C)
c.2411T>C (p.Phe804Ser)
c.2591T>C (p.Phe864Ser)
c.2258T>C (p.Phe753Ser)
 gnomAD v4
7g.117594940T>GCA368983815CFTRc.2501T>G (p.Phe834Cys)
c.*2215T>G (n.*2215T>G)
c.2318T>G (p.Phe773Cys)
c.*801T>G (n.*801T>G)
c.*2325T>G (n.*2325T>G)
c.2075T>G (p.Phe692Cys)
c.92T>G (p.Phe31Cys)
c.151T>G
c.1402-7886T>G (n.1402-7886T>G)
c.2411T>G (p.Phe804Cys)
c.2591T>G (p.Phe864Cys)
c.2258T>G (p.Phe753Cys)
7g.117594941T>ACA368983817CFTRc.2502T>A (p.Phe834Leu)
c.*2216T>A (n.*2216T>A)
c.2319T>A (p.Phe773Leu)
c.*802T>A (n.*802T>A)
c.*2326T>A (n.*2326T>A)
c.2076T>A (p.Phe692Leu)
c.93T>A (p.Phe31Leu)
c.152T>A
c.1402-7885T>A (n.1402-7885T>A)
c.2412T>A (p.Phe804Leu)
c.2592T>A (p.Phe864Leu)
c.2259T>A (p.Phe753Leu)
7g.117594941T>CCA457227561CFTRc.2502T>C (p.Phe834=)
c.*2216T>C (n.*2216T>C)
c.2319T>C (p.Phe773=)
c.*802T>C (n.*802T>C)
c.*2326T>C (n.*2326T>C)
c.2076T>C (p.Phe692=)
c.93T>C (p.Phe31=)
c.152T>C
c.1402-7885T>C (n.1402-7885T>C)
c.2412T>C (p.Phe804=)
c.2592T>C (p.Phe864=)
c.2259T>C (p.Phe753=)
7g.117594941T>GCA4451214CFTRc.2502T>G (p.Phe834Leu)
c.*2216T>G (n.*2216T>G)
c.2319T>G (p.Phe773Leu)
c.*802T>G (n.*802T>G)
c.*2326T>G (n.*2326T>G)
c.2076T>G (p.Phe692Leu)
c.93T>G (p.Phe31Leu)
c.152T>G
c.1402-7885T>G (n.1402-7885T>G)
c.2412T>G (p.Phe804Leu)
c.2592T>G (p.Phe864Leu)
c.2259T>G (p.Phe753Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117594941T=CA1737397689CFTRc.2502T= (p.Phe834=)
c.*2216T= (n.*2216T=)
c.2319T= (p.Phe773=)
c.*802T= (n.*802T=)
c.*2326T= (n.*2326T=)
c.2076T= (p.Phe692=)
c.93T= (p.Phe31=)
c.152T=
c.1402-7885T= (n.1402-7885T=)
c.2412T= (p.Phe804=)
c.2592T= (p.Phe864=)
c.2259T= (p.Phe753=)
7g.117594942G>ACA368983819CFTRc.2503G>A (p.Asp835Asn)
c.*2217G>A (n.*2217G>A)
c.2320G>A (p.Asp774Asn)
c.*803G>A (n.*803G>A)
c.*2327G>A (n.*2327G>A)
c.2077G>A (p.Asp693Asn)
c.94G>A (p.Asp32Asn)
c.153G>A
c.1402-7884G>A (n.1402-7884G>A)
c.2413G>A (p.Asp805Asn)
c.2593G>A (p.Asp865Asn)
c.2260G>A (p.Asp754Asn)
 ClinVar dbSNP
7g.117594942G>CCA368983822CFTRc.2503G>C (p.Asp835His)
c.*2217G>C (n.*2217G>C)
c.2320G>C (p.Asp774His)
c.*803G>C (n.*803G>C)
c.*2327G>C (n.*2327G>C)
c.2077G>C (p.Asp693His)
c.94G>C (p.Asp32His)
c.153G>C
c.1402-7884G>C (n.1402-7884G>C)
c.2413G>C (p.Asp805His)
c.2593G>C (p.Asp865His)
c.2260G>C (p.Asp754His)
7g.117594942G>TCA368983821CFTRc.2503G>T (p.Asp835Tyr)
c.*2217G>T (n.*2217G>T)
c.2320G>T (p.Asp774Tyr)
c.*803G>T (n.*803G>T)
c.*2327G>T (n.*2327G>T)
c.2077G>T (p.Asp693Tyr)
c.94G>T (p.Asp32Tyr)
c.153G>T
c.1402-7884G>T (n.1402-7884G>T)
c.2413G>T (p.Asp805Tyr)
c.2593G>T (p.Asp865Tyr)
c.2260G>T (p.Asp754Tyr)
 ClinVar
7g.117594943A>CCA368983824CFTRc.2504A>C (p.Asp835Ala)
c.*2218A>C (n.*2218A>C)
c.2321A>C (p.Asp774Ala)
c.*804A>C (n.*804A>C)
c.*2328A>C (n.*2328A>C)
c.2078A>C (p.Asp693Ala)
c.95A>C (p.Asp32Ala)
c.154A>C
c.1402-7883A>C (n.1402-7883A>C)
c.2414A>C (p.Asp805Ala)
c.2594A>C (p.Asp865Ala)
c.2261A>C (p.Asp754Ala)
7g.117594943A>GCA368983825CFTRc.2504A>G (p.Asp835Gly)
c.*2218A>G (n.*2218A>G)
c.2321A>G (p.Asp774Gly)
c.*804A>G (n.*804A>G)
c.*2328A>G (n.*2328A>G)
c.2078A>G (p.Asp693Gly)
c.95A>G (p.Asp32Gly)
c.154A>G
c.1402-7883A>G (n.1402-7883A>G)
c.2414A>G (p.Asp805Gly)
c.2594A>G (p.Asp865Gly)
c.2261A>G (p.Asp754Gly)
7g.117594943A>TCA368983827CFTRc.2504A>T (p.Asp835Val)
c.*2218A>T (n.*2218A>T)
c.2321A>T (p.Asp774Val)
c.*804A>T (n.*804A>T)
c.*2328A>T (n.*2328A>T)
c.2078A>T (p.Asp693Val)
c.95A>T (p.Asp32Val)
c.154A>T
c.1402-7883A>T (n.1402-7883A>T)
c.2414A>T (p.Asp805Val)
c.2594A>T (p.Asp865Val)
c.2261A>T (p.Asp754Val)
7g.117594944T>ACA368983830CFTRc.2505T>A (p.Asp835Glu)
c.*2219T>A (n.*2219T>A)
c.2322T>A (p.Asp774Glu)
c.*805T>A (n.*805T>A)
c.*2329T>A (n.*2329T>A)
c.2079T>A (p.Asp693Glu)
c.96T>A (p.Asp32Glu)
c.155T>A
c.1402-7882T>A (n.1402-7882T>A)
c.2415T>A (p.Asp805Glu)
c.2595T>A (p.Asp865Glu)
c.2262T>A (p.Asp754Glu)
7g.117594944T>CCA4451215CFTRc.2505T>C (p.Asp835=)
c.*2219T>C (n.*2219T>C)
c.2322T>C (p.Asp774=)
c.*805T>C (n.*805T>C)
c.*2329T>C (n.*2329T>C)
c.2079T>C (p.Asp693=)
c.96T>C (p.Asp32=)
c.155T>C
c.1402-7882T>C (n.1402-7882T>C)
c.2415T>C (p.Asp805=)
c.2595T>C (p.Asp865=)
c.2262T>C (p.Asp754=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117594944T>GCA368983833CFTRc.2505T>G (p.Asp835Glu)
c.*2219T>G (n.*2219T>G)
c.2322T>G (p.Asp774Glu)
c.*805T>G (n.*805T>G)
c.*2329T>G (n.*2329T>G)
c.2079T>G (p.Asp693Glu)
c.96T>G (p.Asp32Glu)
c.155T>G
c.1402-7882T>G (n.1402-7882T>G)
c.2415T>G (p.Asp805Glu)
c.2595T>G (p.Asp865Glu)
c.2262T>G (p.Asp754Glu)
7g.117594944T=CA1737397693CFTRc.2505T= (p.Asp835=)
c.*2219T= (n.*2219T=)
c.2322T= (p.Asp774=)
c.*805T= (n.*805T=)
c.*2329T= (n.*2329T=)
c.2079T= (p.Asp693=)
c.96T= (p.Asp32=)
c.155T=
c.1402-7882T= (n.1402-7882T=)
c.2415T= (p.Asp805=)
c.2595T= (p.Asp865=)
c.2262T= (p.Asp754=)
7g.117594945G>ACA368983834CFTRc.2506G>A (p.Asp836Asn)
c.*2220G>A (n.*2220G>A)
c.2323G>A (p.Asp775Asn)
c.*806G>A (n.*806G>A)
c.*2330G>A (n.*2330G>A)
c.2080G>A (p.Asp694Asn)
c.97G>A (p.Asp33Asn)
c.156G>A
c.1402-7881G>A (n.1402-7881G>A)
c.2416G>A (p.Asp806Asn)
c.2596G>A (p.Asp866Asn)
c.2263G>A (p.Asp755Asn)
 gnomAD v4
7g.117594945G>CCA368983836CFTRc.2506G>C (p.Asp836His)
c.*2220G>C (n.*2220G>C)
c.2323G>C (p.Asp775His)
c.*806G>C (n.*806G>C)
c.*2330G>C (n.*2330G>C)
c.2080G>C (p.Asp694His)
c.97G>C (p.Asp33His)
c.156G>C
c.1402-7881G>C (n.1402-7881G>C)
c.2416G>C (p.Asp806His)
c.2596G>C (p.Asp866His)
c.2263G>C (p.Asp755His)
7g.117594945G=CA1737397698CFTRc.2506G= (p.Asp836=)
c.*2220G= (n.*2220G=)
c.2323G= (p.Asp775=)
c.*806G= (n.*806G=)
c.*2330G= (n.*2330G=)
c.2080G= (p.Asp694=)
c.97G= (p.Asp33=)
c.156G=
c.1402-7881G= (n.1402-7881G=)
c.2416G= (p.Asp806=)
c.2596G= (p.Asp866=)
c.2263G= (p.Asp755=)
7g.117594945G>TCA326836CFTRc.2506G>T (p.Asp836Tyr)
c.*2220G>T (n.*2220G>T)
c.2323G>T (p.Asp775Tyr)
c.*806G>T (n.*806G>T)
c.*2330G>T (n.*2330G>T)
c.2080G>T (p.Asp694Tyr)
c.97G>T (p.Asp33Tyr)
c.156G>T
c.1402-7881G>T (n.1402-7881G>T)
c.2416G>T (p.Asp806Tyr)
c.2596G>T (p.Asp866Tyr)
c.2263G>T (p.Asp755Tyr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117594946A>CCA368983838CFTRc.2507A>C (p.Asp836Ala)
c.*2221A>C (n.*2221A>C)
c.2324A>C (p.Asp775Ala)
c.*807A>C (n.*807A>C)
c.*2331A>C (n.*2331A>C)
c.2081A>C (p.Asp694Ala)
c.98A>C (p.Asp33Ala)
c.157A>C
c.1402-7880A>C (n.1402-7880A>C)
c.2417A>C (p.Asp806Ala)
c.2597A>C (p.Asp866Ala)
c.2264A>C (p.Asp755Ala)
7g.117594946A>GCA368983840CFTRc.2507A>G (p.Asp836Gly)
c.*2221A>G (n.*2221A>G)
c.2324A>G (p.Asp775Gly)
c.*807A>G (n.*807A>G)
c.*2331A>G (n.*2331A>G)
c.2081A>G (p.Asp694Gly)
c.98A>G (p.Asp33Gly)
c.157A>G
c.1402-7880A>G (n.1402-7880A>G)
c.2417A>G (p.Asp806Gly)
c.2597A>G (p.Asp866Gly)
c.2264A>G (p.Asp755Gly)
7g.117594946A>TCA368983841CFTRc.2507A>T (p.Asp836Val)
c.*2221A>T (n.*2221A>T)
c.2324A>T (p.Asp775Val)
c.*807A>T (n.*807A>T)
c.*2331A>T (n.*2331A>T)
c.2081A>T (p.Asp694Val)
c.98A>T (p.Asp33Val)
c.157A>T
c.1402-7880A>T (n.1402-7880A>T)
c.2417A>T (p.Asp806Val)
c.2597A>T (p.Asp866Val)
c.2264A>T (p.Asp755Val)
7g.117594946_117594947delinsATCA1737397704CFTRc.2507_2508delinsAT (p.Asp836=)
c.*2221_*2222delinsAT (n.*2221_*2222delinsAT)
c.2324_2325delinsAT (p.Asp775=)
c.*807_*808delinsAT (n.*807_*808delinsAT)
c.*2331_*2332delinsAT (n.*2331_*2332delinsAT)
c.2081_2082delinsAT (p.Asp694=)
c.98_99delinsAT (p.Asp33=)
c.157_158delinsAT
c.1402-7880_1402-7879delinsAT (n.1402-7880_1402-7879delinsAT)
c.2417_2418delinsAT (p.Asp806=)
c.2597_2598delinsAT (p.Asp866=)
c.2264_2265delinsAT (p.Asp755=)
7g.117594947delCA326838CFTRc.2508del (p.Asp836GlufsTer8)
c.*2222del (n.*2222del)
c.2325del (p.Asp775GlufsTer8)
c.*808del (n.*808del)
c.*2332del (n.*2332del)
c.2082del (p.Asp694GlufsTer8)
c.99del (p.Asp33GlufsTer8)
c.158del
c.1402-7879del (n.1402-7879del)
c.2418del (p.Asp806GlufsTer8)
c.2598del (p.Asp866GlufsTer8)
c.2265del (p.Asp755GlufsTer8)
 ClinVar dbSNP
7g.117594947T>ACA368983846CFTRc.2508T>A (p.Asp836Glu)
c.*2222T>A (n.*2222T>A)
c.2325T>A (p.Asp775Glu)
c.*808T>A (n.*808T>A)
c.*2332T>A (n.*2332T>A)
c.2082T>A (p.Asp694Glu)
c.99T>A (p.Asp33Glu)
c.158T>A
c.1402-7879T>A (n.1402-7879T>A)
c.2418T>A (p.Asp806Glu)
c.2598T>A (p.Asp866Glu)
c.2265T>A (p.Asp755Glu)
7g.117594947T>CCA457227562CFTRc.2508T>C (p.Asp836=)
c.*2222T>C (n.*2222T>C)
c.2325T>C (p.Asp775=)
c.*808T>C (n.*808T>C)
c.*2332T>C (n.*2332T>C)
c.2082T>C (p.Asp694=)
c.99T>C (p.Asp33=)
c.158T>C
c.1402-7879T>C (n.1402-7879T>C)
c.2418T>C (p.Asp806=)
c.2598T>C (p.Asp866=)
c.2265T>C (p.Asp755=)
 ClinVar
7g.117594947T>GCA368983843CFTRc.2508T>G (p.Asp836Glu)
c.*2222T>G (n.*2222T>G)
c.2325T>G (p.Asp775Glu)
c.*808T>G (n.*808T>G)
c.*2332T>G (n.*2332T>G)
c.2082T>G (p.Asp694Glu)
c.99T>G (p.Asp33Glu)
c.158T>G
c.1402-7879T>G (n.1402-7879T>G)
c.2418T>G (p.Asp806Glu)
c.2598T>G (p.Asp866Glu)
c.2265T>G (p.Asp755Glu)
7g.117594948A>CCA368983847CFTRc.2509A>C (p.Met837Leu)
c.*2223A>C (n.*2223A>C)
c.2326A>C (p.Met776Leu)
c.*809A>C (n.*809A>C)
c.*2333A>C (n.*2333A>C)
c.2083A>C (p.Met695Leu)
c.100A>C (p.Met34Leu)
c.159A>C
c.1402-7878A>C (n.1402-7878A>C)
c.2419A>C (p.Met807Leu)
c.2599A>C (p.Met867Leu)
c.2266A>C (p.Met756Leu)
7g.117594948A>GCA368983849CFTRc.2509A>G (p.Met837Val)
c.*2223A>G (n.*2223A>G)
c.2326A>G (p.Met776Val)
c.*809A>G (n.*809A>G)
c.*2333A>G (n.*2333A>G)
c.2083A>G (p.Met695Val)
c.100A>G (p.Met34Val)
c.159A>G
c.1402-7878A>G (n.1402-7878A>G)
c.2419A>G (p.Met807Val)
c.2599A>G (p.Met867Val)
c.2266A>G (p.Met756Val)
7g.117594948A>TCA368983850CFTRc.2509A>T (p.Met837Leu)
c.*2223A>T (n.*2223A>T)
c.2326A>T (p.Met776Leu)
c.*809A>T (n.*809A>T)
c.*2333A>T (n.*2333A>T)
c.2083A>T (p.Met695Leu)
c.100A>T (p.Met34Leu)
c.159A>T
c.1402-7878A>T (n.1402-7878A>T)
c.2419A>T (p.Met807Leu)
c.2599A>T (p.Met867Leu)
c.2266A>T (p.Met756Leu)
7g.117594949T>ACA368983852CFTRc.2510T>A (p.Met837Lys)
c.*2224T>A (n.*2224T>A)
c.2327T>A (p.Met776Lys)
c.*810T>A (n.*810T>A)
c.*2334T>A (n.*2334T>A)
c.2084T>A (p.Met695Lys)
c.101T>A (p.Met34Lys)
c.160T>A
c.1402-7877T>A (n.1402-7877T>A)
c.2420T>A (p.Met807Lys)
c.2600T>A (p.Met867Lys)
c.2267T>A (p.Met756Lys)
7g.117594949T>CCA4451216CFTRc.2510T>C (p.Met837Thr)
c.*2224T>C (n.*2224T>C)
c.2327T>C (p.Met776Thr)
c.*810T>C (n.*810T>C)
c.*2334T>C (n.*2334T>C)
c.2084T>C (p.Met695Thr)
c.101T>C (p.Met34Thr)
c.160T>C
c.1402-7877T>C (n.1402-7877T>C)
c.2420T>C (p.Met807Thr)
c.2600T>C (p.Met867Thr)
c.2267T>C (p.Met756Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.117594949T>GCA368983853CFTRc.2510T>G (p.Met837Arg)
c.*2224T>G (n.*2224T>G)
c.2327T>G (p.Met776Arg)
c.*810T>G (n.*810T>G)
c.*2334T>G (n.*2334T>G)
c.2084T>G (p.Met695Arg)
c.101T>G (p.Met34Arg)
c.160T>G
c.1402-7877T>G (n.1402-7877T>G)
c.2420T>G (p.Met807Arg)
c.2600T>G (p.Met867Arg)
c.2267T>G (p.Met756Arg)
7g.117594949T=CA1737397710CFTRc.2510T= (p.Met837=)
c.*2224T= (n.*2224T=)
c.2327T= (p.Met776=)
c.*810T= (n.*810T=)
c.*2334T= (n.*2334T=)
c.2084T= (p.Met695=)
c.101T= (p.Met34=)
c.160T=
c.1402-7877T= (n.1402-7877T=)
c.2420T= (p.Met807=)
c.2600T= (p.Met867=)
c.2267T= (p.Met756=)
7g.117594950G>ACA164949878CFTRc.2511G>A (p.Met837Ile)
c.*2225G>A (n.*2225G>A)
c.2328G>A (p.Met776Ile)
c.*811G>A (n.*811G>A)
c.*2335G>A (n.*2335G>A)
c.2085G>A (p.Met695Ile)
c.102G>A (p.Met34Ile)
c.161G>A
c.1402-7876G>A (n.1402-7876G>A)
c.2421G>A (p.Met807Ile)
c.2601G>A (p.Met867Ile)
c.2268G>A (p.Met756Ile)
 dbSNP
7g.117594950G>CCA368983855CFTRc.2511G>C (p.Met837Ile)
c.*2225G>C (n.*2225G>C)
c.2328G>C (p.Met776Ile)
c.*811G>C (n.*811G>C)
c.*2335G>C (n.*2335G>C)
c.2085G>C (p.Met695Ile)
c.102G>C (p.Met34Ile)
c.161G>C
c.1402-7876G>C (n.1402-7876G>C)
c.2421G>C (p.Met807Ile)
c.2601G>C (p.Met867Ile)
c.2268G>C (p.Met756Ile)
7g.117594950G=CA1737397714CFTRc.2511G= (p.Met837=)
c.*2225G= (n.*2225G=)
c.2328G= (p.Met776=)
c.*811G= (n.*811G=)
c.*2335G= (n.*2335G=)
c.2085G= (p.Met695=)
c.102G= (p.Met34=)
c.161G=
c.1402-7876G= (n.1402-7876G=)
c.2421G= (p.Met807=)
c.2601G= (p.Met867=)
c.2268G= (p.Met756=)
7g.117594950G>TCA368983856CFTRc.2511G>T (p.Met837Ile)
c.*2225G>T (n.*2225G>T)
c.2328G>T (p.Met776Ile)
c.*811G>T (n.*811G>T)
c.*2335G>T (n.*2335G>T)
c.2085G>T (p.Met695Ile)
c.102G>T (p.Met34Ile)
c.161G>T
c.1402-7876G>T (n.1402-7876G>T)
c.2421G>T (p.Met807Ile)
c.2601G>T (p.Met867Ile)
c.2268G>T (p.Met756Ile)
7g.117594951G>ACA368983857CFTRc.2512G>A (p.Glu838Lys)
c.*2226G>A (n.*2226G>A)
c.2329G>A (p.Glu777Lys)
c.*812G>A (n.*812G>A)
c.*2336G>A (n.*2336G>A)
c.2086G>A (p.Glu696Lys)
c.103G>A (p.Glu35Lys)
c.162G>A
c.1402-7875G>A (n.1402-7875G>A)
c.2422G>A (p.Glu808Lys)
c.2602G>A (p.Glu868Lys)
c.2269G>A (p.Glu757Lys)
 dbSNP
7g.117594951G>CCA368983858CFTRc.2512G>C (p.Glu838Gln)
c.*2226G>C (n.*2226G>C)
c.2329G>C (p.Glu777Gln)
c.*812G>C (n.*812G>C)
c.*2336G>C (n.*2336G>C)
c.2086G>C (p.Glu696Gln)
c.103G>C (p.Glu35Gln)
c.162G>C
c.1402-7875G>C (n.1402-7875G>C)
c.2422G>C (p.Glu808Gln)
c.2602G>C (p.Glu868Gln)
c.2269G>C (p.Glu757Gln)
7g.117594951G=CA1737397719CFTRc.2512G= (p.Glu838=)
c.*2226G= (n.*2226G=)
c.2329G= (p.Glu777=)
c.*812G= (n.*812G=)
c.*2336G= (n.*2336G=)
c.2086G= (p.Glu696=)
c.103G= (p.Glu35=)
c.162G=
c.1402-7875G= (n.1402-7875G=)
c.2422G= (p.Glu808=)
c.2602G= (p.Glu868=)
c.2269G= (p.Glu757=)
7g.117594951G>TCA368983859CFTRc.2512G>T (p.Glu838Ter)
c.*2226G>T (n.*2226G>T)
c.2329G>T (p.Glu777Ter)
c.*812G>T (n.*812G>T)
c.*2336G>T (n.*2336G>T)
c.2086G>T (p.Glu696Ter)
c.103G>T (p.Glu35Ter)
c.162G>T
c.1402-7875G>T (n.1402-7875G>T)
c.2422G>T (p.Glu808Ter)
c.2602G>T (p.Glu868Ter)
c.2269G>T (p.Glu757Ter)
 gnomAD v4
7g.117594952A>CCA368983861CFTRc.2513A>C (p.Glu838Ala)
c.*2227A>C (n.*2227A>C)
c.2330A>C (p.Glu777Ala)
c.*813A>C (n.*813A>C)
c.*2337A>C (n.*2337A>C)
c.2087A>C (p.Glu696Ala)
c.104A>C (p.Glu35Ala)
c.163A>C
c.1402-7874A>C (n.1402-7874A>C)
c.2423A>C (p.Glu808Ala)
c.2603A>C (p.Glu868Ala)
c.2270A>C (p.Glu757Ala)
7g.117594952A>GCA368983862CFTRc.2513A>G (p.Glu838Gly)
c.*2227A>G (n.*2227A>G)
c.2330A>G (p.Glu777Gly)
c.*813A>G (n.*813A>G)
c.*2337A>G (n.*2337A>G)
c.2087A>G (p.Glu696Gly)
c.104A>G (p.Glu35Gly)
c.163A>G
c.1402-7874A>G (n.1402-7874A>G)
c.2423A>G (p.Glu808Gly)
c.2603A>G (p.Glu868Gly)
c.2270A>G (p.Glu757Gly)
7g.117594952A>TCA368983860CFTRc.2513A>T (p.Glu838Val)
c.*2227A>T (n.*2227A>T)
c.2330A>T (p.Glu777Val)
c.*813A>T (n.*813A>T)
c.*2337A>T (n.*2337A>T)
c.2087A>T (p.Glu696Val)
c.104A>T (p.Glu35Val)
c.163A>T
c.1402-7874A>T (n.1402-7874A>T)
c.2423A>T (p.Glu808Val)
c.2603A>T (p.Glu868Val)
c.2270A>T (p.Glu757Val)
 gnomAD v4
7g.117594953G>ACA457227563CFTRc.2514G>A (p.Glu838=)
c.*2228G>A (n.*2228G>A)
c.2331G>A (p.Glu777=)
c.*814G>A (n.*814G>A)
c.*2338G>A (n.*2338G>A)
c.2088G>A (p.Glu696=)
c.105G>A (p.Glu35=)
c.164G>A
c.1402-7873G>A (n.1402-7873G>A)
c.2424G>A (p.Glu808=)
c.2604G>A (p.Glu868=)
c.2271G>A (p.Glu757=)
 dbSNP COSMIC
7g.117594953G>CCA368983864CFTRc.2514G>C (p.Glu838Asp)
c.*2228G>C (n.*2228G>C)
c.2331G>C (p.Glu777Asp)
c.*814G>C (n.*814G>C)
c.*2338G>C (n.*2338G>C)
c.2088G>C (p.Glu696Asp)
c.105G>C (p.Glu35Asp)
c.164G>C
c.1402-7873G>C (n.1402-7873G>C)
c.2424G>C (p.Glu808Asp)
c.2604G>C (p.Glu868Asp)
c.2271G>C (p.Glu757Asp)
7g.117594953G=CA1737397722CFTRc.2514G= (p.Glu838=)
c.*2228G= (n.*2228G=)
c.2331G= (p.Glu777=)
c.*814G= (n.*814G=)
c.*2338G= (n.*2338G=)
c.2088G= (p.Glu696=)
c.105G= (p.Glu35=)
c.164G=
c.1402-7873G= (n.1402-7873G=)
c.2424G= (p.Glu808=)
c.2604G= (p.Glu868=)
c.2271G= (p.Glu757=)
7g.117594953G>TCA368983863CFTRc.2514G>T (p.Glu838Asp)
c.*2228G>T (n.*2228G>T)
c.2331G>T (p.Glu777Asp)
c.*814G>T (n.*814G>T)
c.*2338G>T (n.*2338G>T)
c.2088G>T (p.Glu696Asp)
c.105G>T (p.Glu35Asp)
c.164G>T
c.1402-7873G>T (n.1402-7873G>T)
c.2424G>T (p.Glu808Asp)
c.2604G>T (p.Glu868Asp)
c.2271G>T (p.Glu757Asp)
7g.117594954A>CCA368983865CFTRc.2515A>C (p.Ser839Arg)
c.*2229A>C (n.*2229A>C)
c.2332A>C (p.Ser778Arg)
c.*815A>C (n.*815A>C)
c.*2339A>C (n.*2339A>C)
c.2089A>C (p.Ser697Arg)
c.106A>C (p.Ser36Arg)
c.165A>C
c.1402-7872A>C (n.1402-7872A>C)
c.2425A>C (p.Ser809Arg)
c.2605A>C (p.Ser869Arg)
c.2272A>C (p.Ser758Arg)
 ClinVar dbSNP
7g.117594954A>GCA368983866CFTRc.2515A>G (p.Ser839Gly)
c.*2229A>G (n.*2229A>G)
c.2332A>G (p.Ser778Gly)
c.*815A>G (n.*815A>G)
c.*2339A>G (n.*2339A>G)
c.2089A>G (p.Ser697Gly)
c.106A>G (p.Ser36Gly)
c.165A>G
c.1402-7872A>G (n.1402-7872A>G)
c.2425A>G (p.Ser809Gly)
c.2605A>G (p.Ser869Gly)
c.2272A>G (p.Ser758Gly)
 ClinVar
7g.117594954A>TCA368983867CFTRc.2515A>T (p.Ser839Cys)
c.*2229A>T (n.*2229A>T)
c.2332A>T (p.Ser778Cys)
c.*815A>T (n.*815A>T)
c.*2339A>T (n.*2339A>T)
c.2089A>T (p.Ser697Cys)
c.106A>T (p.Ser36Cys)
c.165A>T
c.1402-7872A>T (n.1402-7872A>T)
c.2425A>T (p.Ser809Cys)
c.2605A>T (p.Ser869Cys)
c.2272A>T (p.Ser758Cys)
7g.117594955G>ACA368983868CFTRc.2516G>A (p.Ser839Asn)
c.*2230G>A (n.*2230G>A)
c.2333G>A (p.Ser778Asn)
c.*816G>A (n.*816G>A)
c.*2340G>A (n.*2340G>A)
c.2090G>A (p.Ser697Asn)
c.107G>A (p.Ser36Asn)
c.166G>A
c.1402-7871G>A (n.1402-7871G>A)
c.2426G>A (p.Ser809Asn)
c.2606G>A (p.Ser869Asn)
c.2273G>A (p.Ser758Asn)
7g.117594955G>CCA368983869CFTRc.2516G>C (p.Ser839Thr)
c.*2230G>C (n.*2230G>C)
c.2333G>C (p.Ser778Thr)
c.*816G>C (n.*816G>C)
c.*2340G>C (n.*2340G>C)
c.2090G>C (p.Ser697Thr)
c.107G>C (p.Ser36Thr)
c.166G>C
c.1402-7871G>C (n.1402-7871G>C)
c.2426G>C (p.Ser809Thr)
c.2606G>C (p.Ser869Thr)
c.2273G>C (p.Ser758Thr)
 gnomAD v4
7g.117594955G>TCA368983870CFTRc.2516G>T (p.Ser839Ile)
c.*2230G>T (n.*2230G>T)
c.2333G>T (p.Ser778Ile)
c.*816G>T (n.*816G>T)
c.*2340G>T (n.*2340G>T)
c.2090G>T (p.Ser697Ile)
c.107G>T (p.Ser36Ile)
c.166G>T
c.1402-7871G>T (n.1402-7871G>T)
c.2426G>T (p.Ser809Ile)
c.2606G>T (p.Ser869Ile)
c.2273G>T (p.Ser758Ile)
7g.117594956C>ACA368983871CFTRc.2517C>A (p.Ser839Arg)
c.*2231C>A (n.*2231C>A)
c.2334C>A (p.Ser778Arg)
c.*817C>A (n.*817C>A)
c.*2341C>A (n.*2341C>A)
c.2091C>A (p.Ser697Arg)
c.108C>A (p.Ser36Arg)
c.167C>A
c.1402-7870C>A (n.1402-7870C>A)
c.2427C>A (p.Ser809Arg)
c.2607C>A (p.Ser869Arg)
c.2274C>A (p.Ser758Arg)
7g.117594956C>GCA368983872CFTRc.2517C>G (p.Ser839Arg)
c.*2231C>G (n.*2231C>G)
c.2334C>G (p.Ser778Arg)
c.*817C>G (n.*817C>G)
c.*2341C>G (n.*2341C>G)
c.2091C>G (p.Ser697Arg)
c.108C>G (p.Ser36Arg)
c.167C>G
c.1402-7870C>G (n.1402-7870C>G)
c.2427C>G (p.Ser809Arg)
c.2607C>G (p.Ser869Arg)
c.2274C>G (p.Ser758Arg)
7g.117594956C>TCA457227564CFTRc.2517C>T (p.Ser839=)
c.*2231C>T (n.*2231C>T)
c.2334C>T (p.Ser778=)
c.*817C>T (n.*817C>T)
c.*2341C>T (n.*2341C>T)
c.2091C>T (p.Ser697=)
c.108C>T (p.Ser36=)
c.167C>T
c.1402-7870C>T (n.1402-7870C>T)
c.2427C>T (p.Ser809=)
c.2607C>T (p.Ser869=)
c.2274C>T (p.Ser758=)
7g.117594957A>CCA368983873CFTRc.2518A>C (p.Ile840Leu)
c.*2232A>C (n.*2232A>C)
c.2335A>C (p.Ile779Leu)
c.*818A>C (n.*818A>C)
c.*2342A>C (n.*2342A>C)
c.2092A>C (p.Ile698Leu)
c.109A>C (p.Ile37Leu)
c.168A>C
c.1402-7869A>C (n.1402-7869A>C)
c.2428A>C (p.Ile810Leu)
c.2608A>C (p.Ile870Leu)
c.2275A>C (p.Ile759Leu)
7g.117594957A>GCA368983874CFTRc.2518A>G (p.Ile840Val)
c.*2232A>G (n.*2232A>G)
c.2335A>G (p.Ile779Val)
c.*818A>G (n.*818A>G)
c.*2342A>G (n.*2342A>G)
c.2092A>G (p.Ile698Val)
c.109A>G (p.Ile37Val)
c.168A>G
c.1402-7869A>G (n.1402-7869A>G)
c.2428A>G (p.Ile810Val)
c.2608A>G (p.Ile870Val)
c.2275A>G (p.Ile759Val)
7g.117594957A>TCA368983875CFTRc.2518A>T (p.Ile840Leu)
c.*2232A>T (n.*2232A>T)
c.2335A>T (p.Ile779Leu)
c.*818A>T (n.*818A>T)
c.*2342A>T (n.*2342A>T)
c.2092A>T (p.Ile698Leu)
c.109A>T (p.Ile37Leu)
c.168A>T
c.1402-7869A>T (n.1402-7869A>T)
c.2428A>T (p.Ile810Leu)
c.2608A>T (p.Ile870Leu)
c.2275A>T (p.Ile759Leu)
7g.117594958T>ACA368983876CFTRc.2519T>A (p.Ile840Lys)
c.*2233T>A (n.*2233T>A)
c.2336T>A (p.Ile779Lys)
c.*819T>A (n.*819T>A)
c.*2343T>A (n.*2343T>A)
c.2093T>A (p.Ile698Lys)
c.110T>A (p.Ile37Lys)
c.169T>A
c.1402-7868T>A (n.1402-7868T>A)
c.2429T>A (p.Ile810Lys)
c.2609T>A (p.Ile870Lys)
c.2276T>A (p.Ile759Lys)
7g.117594958T>CCA368983877CFTRc.2519T>C (p.Ile840Thr)
c.*2233T>C (n.*2233T>C)
c.2336T>C (p.Ile779Thr)
c.*819T>C (n.*819T>C)
c.*2343T>C (n.*2343T>C)
c.2093T>C (p.Ile698Thr)
c.110T>C (p.Ile37Thr)
c.169T>C
c.1402-7868T>C (n.1402-7868T>C)
c.2429T>C (p.Ile810Thr)
c.2609T>C (p.Ile870Thr)
c.2276T>C (p.Ile759Thr)
 ClinVar gnomAD v4
7g.117594958T>GCA368983878CFTRc.2519T>G (p.Ile840Arg)
c.*2233T>G (n.*2233T>G)
c.2336T>G (p.Ile779Arg)
c.*819T>G (n.*819T>G)
c.*2343T>G (n.*2343T>G)
c.2093T>G (p.Ile698Arg)
c.110T>G (p.Ile37Arg)
c.169T>G
c.1402-7868T>G (n.1402-7868T>G)
c.2429T>G (p.Ile810Arg)
c.2609T>G (p.Ile870Arg)
c.2276T>G (p.Ile759Arg)
7g.117594959A>CCA457227565CFTRc.2520A>C (p.Ile840=)
c.*2234A>C (n.*2234A>C)
c.2337A>C (p.Ile779=)
c.*820A>C (n.*820A>C)
c.*2344A>C (n.*2344A>C)
c.2094A>C (p.Ile698=)
c.111A>C (p.Ile37=)
c.170A>C
c.1402-7867A>C (n.1402-7867A>C)
c.2430A>C (p.Ile810=)
c.2610A>C (p.Ile870=)
c.2277A>C (p.Ile759=)
7g.117594959A>GCA368983879CFTRc.2520A>G (p.Ile840Met)
c.*2234A>G (n.*2234A>G)
c.2337A>G (p.Ile779Met)
c.*820A>G (n.*820A>G)
c.*2344A>G (n.*2344A>G)
c.2094A>G (p.Ile698Met)
c.111A>G (p.Ile37Met)
c.170A>G
c.1402-7867A>G (n.1402-7867A>G)
c.2430A>G (p.Ile810Met)
c.2610A>G (p.Ile870Met)
c.2277A>G (p.Ile759Met)
7g.117594959A>TCA457227566CFTRc.2520A>T (p.Ile840=)
c.*2234A>T (n.*2234A>T)
c.2337A>T (p.Ile779=)
c.*820A>T (n.*820A>T)
c.*2344A>T (n.*2344A>T)
c.2094A>T (p.Ile698=)
c.111A>T (p.Ile37=)
c.170A>T
c.1402-7867A>T (n.1402-7867A>T)
c.2430A>T (p.Ile810=)
c.2610A>T (p.Ile870=)
c.2277A>T (p.Ile759=)
7g.117594960C>ACA368983880CFTRc.2521C>A (p.Pro841Thr)
c.*2235C>A (n.*2235C>A)
c.2338C>A (p.Pro780Thr)
c.*821C>A (n.*821C>A)
c.*2345C>A (n.*2345C>A)
c.2095C>A (p.Pro699Thr)
c.112C>A (p.Pro38Thr)
c.171C>A
c.1402-7866C>A (n.1402-7866C>A)
c.2431C>A (p.Pro811Thr)
c.2611C>A (p.Pro871Thr)
c.2278C>A (p.Pro760Thr)
 dbSNP
7g.117594960C=CA1737397726CFTRc.2521C= (p.Pro841=)
c.*2235C= (n.*2235C=)
c.2338C= (p.Pro780=)
c.*821C= (n.*821C=)
c.*2345C= (n.*2345C=)
c.2095C= (p.Pro699=)
c.112C= (p.Pro38=)
c.171C=
c.1402-7866C= (n.1402-7866C=)
c.2431C= (p.Pro811=)
c.2611C= (p.Pro871=)
c.2278C= (p.Pro760=)
7g.117594960C>GCA368983881CFTRc.2521C>G (p.Pro841Ala)
c.*2235C>G (n.*2235C>G)
c.2338C>G (p.Pro780Ala)
c.*821C>G (n.*821C>G)
c.*2345C>G (n.*2345C>G)
c.2095C>G (p.Pro699Ala)
c.112C>G (p.Pro38Ala)
c.171C>G
c.1402-7866C>G (n.1402-7866C>G)
c.2431C>G (p.Pro811Ala)
c.2611C>G (p.Pro871Ala)
c.2278C>G (p.Pro760Ala)
7g.117594960C>TCA368983882CFTRc.2521C>T (p.Pro841Ser)
c.*2235C>T (n.*2235C>T)
c.2338C>T (p.Pro780Ser)
c.*821C>T (n.*821C>T)
c.*2345C>T (n.*2345C>T)
c.2095C>T (p.Pro699Ser)
c.112C>T (p.Pro38Ser)
c.171C>T
c.1402-7866C>T (n.1402-7866C>T)
c.2431C>T (p.Pro811Ser)
c.2611C>T (p.Pro871Ser)
c.2278C>T (p.Pro760Ser)
 dbSNP COSMIC
7g.117594961C>ACA368983883CFTRc.2522C>A (p.Pro841Gln)
c.*2236C>A (n.*2236C>A)
c.2339C>A (p.Pro780Gln)
c.*822C>A (n.*822C>A)
c.*2346C>A (n.*2346C>A)
c.2096C>A (p.Pro699Gln)
c.113C>A (p.Pro38Gln)
c.172C>A
c.1402-7865C>A (n.1402-7865C>A)
c.2432C>A (p.Pro811Gln)
c.2612C>A (p.Pro871Gln)
c.2279C>A (p.Pro760Gln)
7g.117594961C=CA1737397732CFTRc.2522C= (p.Pro841=)
c.*2236C= (n.*2236C=)
c.2339C= (p.Pro780=)
c.*822C= (n.*822C=)
c.*2346C= (n.*2346C=)
c.2096C= (p.Pro699=)
c.113C= (p.Pro38=)
c.172C=
c.1402-7865C= (n.1402-7865C=)
c.2432C= (p.Pro811=)
c.2612C= (p.Pro871=)
c.2279C= (p.Pro760=)
7g.117594961C>GCA326839CFTRc.2522C>G (p.Pro841Arg)
c.*2236C>G (n.*2236C>G)
c.2339C>G (p.Pro780Arg)
c.*822C>G (n.*822C>G)
c.*2346C>G (n.*2346C>G)
c.2096C>G (p.Pro699Arg)
c.113C>G (p.Pro38Arg)
c.172C>G
c.1402-7865C>G (n.1402-7865C>G)
c.2432C>G (p.Pro811Arg)
c.2612C>G (p.Pro871Arg)
c.2279C>G (p.Pro760Arg)
 ClinVar dbSNP
7g.117594961C>TCA368983884CFTRc.2522C>T (p.Pro841Leu)
c.*2236C>T (n.*2236C>T)
c.2339C>T (p.Pro780Leu)
c.*822C>T (n.*822C>T)
c.*2346C>T (n.*2346C>T)
c.2096C>T (p.Pro699Leu)
c.113C>T (p.Pro38Leu)
c.172C>T
c.1402-7865C>T (n.1402-7865C>T)
c.2432C>T (p.Pro811Leu)
c.2612C>T (p.Pro871Leu)
c.2279C>T (p.Pro760Leu)
 dbSNP
7g.117594962A=CA1737397738CFTRc.2523A= (p.Pro841=)
c.*2237A= (n.*2237A=)
c.2340A= (p.Pro780=)
c.*823A= (n.*823A=)
c.*2347A= (n.*2347A=)
c.2097A= (p.Pro699=)
c.114A= (p.Pro38=)
c.173A=
c.1402-7864A= (n.1402-7864A=)
c.2433A= (p.Pro811=)
c.2613A= (p.Pro871=)
c.2280A= (p.Pro760=)
7g.117594962A>CCA457227568CFTRc.2523A>C (p.Pro841=)
c.*2237A>C (n.*2237A>C)
c.2340A>C (p.Pro780=)
c.*823A>C (n.*823A>C)
c.*2347A>C (n.*2347A>C)
c.2097A>C (p.Pro699=)
c.114A>C (p.Pro38=)
c.173A>C
c.1402-7864A>C (n.1402-7864A>C)
c.2433A>C (p.Pro811=)
c.2613A>C (p.Pro871=)
c.2280A>C (p.Pro760=)
7g.117594962A>GCA457227569CFTRc.2523A>G (p.Pro841=)
c.*2237A>G (n.*2237A>G)
c.2340A>G (p.Pro780=)
c.*823A>G (n.*823A>G)
c.*2347A>G (n.*2347A>G)
c.2097A>G (p.Pro699=)
c.114A>G (p.Pro38=)
c.173A>G
c.1402-7864A>G (n.1402-7864A>G)
c.2433A>G (p.Pro811=)
c.2613A>G (p.Pro871=)
c.2280A>G (p.Pro760=)
 dbSNP gnomAD v2 gnomAD v4
7g.117594962A>TCA457227567CFTRc.2523A>T (p.Pro841=)
c.*2237A>T (n.*2237A>T)
c.2340A>T (p.Pro780=)
c.*823A>T (n.*823A>T)
c.*2347A>T (n.*2347A>T)
c.2097A>T (p.Pro699=)
c.114A>T (p.Pro38=)
c.173A>T
c.1402-7864A>T (n.1402-7864A>T)
c.2433A>T (p.Pro811=)
c.2613A>T (p.Pro871=)
c.2280A>T (p.Pro760=)
 COSMIC
7g.117594963G>ACA368983885CFTRc.2524G>A (p.Ala842Thr)
c.*2238G>A (n.*2238G>A)
c.2341G>A (p.Ala781Thr)
c.*824G>A (n.*824G>A)
c.*2348G>A (n.*2348G>A)
c.2098G>A (p.Ala700Thr)
c.115G>A (p.Ala39Thr)
c.174G>A
c.1402-7863G>A (n.1402-7863G>A)
c.2434G>A (p.Ala812Thr)
c.2614G>A (p.Ala872Thr)
c.2281G>A (p.Ala761Thr)
7g.117594963G>CCA368983886CFTRc.2524G>C (p.Ala842Pro)
c.*2238G>C (n.*2238G>C)
c.2341G>C (p.Ala781Pro)
c.*824G>C (n.*824G>C)
c.*2348G>C (n.*2348G>C)
c.2098G>C (p.Ala700Pro)
c.115G>C (p.Ala39Pro)
c.174G>C
c.1402-7863G>C (n.1402-7863G>C)
c.2434G>C (p.Ala812Pro)
c.2614G>C (p.Ala872Pro)
c.2281G>C (p.Ala761Pro)
7g.117594963G>TCA368983887CFTRc.2524G>T (p.Ala842Ser)
c.*2238G>T (n.*2238G>T)
c.2341G>T (p.Ala781Ser)
c.*824G>T (n.*824G>T)
c.*2348G>T (n.*2348G>T)
c.2098G>T (p.Ala700Ser)
c.115G>T (p.Ala39Ser)
c.174G>T
c.1402-7863G>T (n.1402-7863G>T)
c.2434G>T (p.Ala812Ser)
c.2614G>T (p.Ala872Ser)
c.2281G>T (p.Ala761Ser)
7g.117594964C>ACA368983888CFTRc.2525C>A (p.Ala842Glu)
c.*2239C>A (n.*2239C>A)
c.2342C>A (p.Ala781Glu)
c.*825C>A (n.*825C>A)
c.*2349C>A (n.*2349C>A)
c.2099C>A (p.Ala700Glu)
c.116C>A (p.Ala39Glu)
c.175C>A
c.1402-7862C>A (n.1402-7862C>A)
c.2435C>A (p.Ala812Glu)
c.2615C>A (p.Ala872Glu)
c.2282C>A (p.Ala761Glu)
7g.117594964C>GCA368983889CFTRc.2525C>G (p.Ala842Gly)
c.*2239C>G (n.*2239C>G)
c.2342C>G (p.Ala781Gly)
c.*825C>G (n.*825C>G)
c.*2349C>G (n.*2349C>G)
c.2099C>G (p.Ala700Gly)
c.116C>G (p.Ala39Gly)
c.175C>G
c.1402-7862C>G (n.1402-7862C>G)
c.2435C>G (p.Ala812Gly)
c.2615C>G (p.Ala872Gly)
c.2282C>G (p.Ala761Gly)
7g.117594964C>TCA368983890CFTRc.2525C>T (p.Ala842Val)
c.*2239C>T (n.*2239C>T)
c.2342C>T (p.Ala781Val)
c.*825C>T (n.*825C>T)
c.*2349C>T (n.*2349C>T)
c.2099C>T (p.Ala700Val)
c.116C>T (p.Ala39Val)
c.175C>T
c.1402-7862C>T (n.1402-7862C>T)
c.2435C>T (p.Ala812Val)
c.2615C>T (p.Ala872Val)
c.2282C>T (p.Ala761Val)
7g.117594965A=CA1737397744CFTRc.2526A= (p.Ala842=)
c.*2240A= (n.*2240A=)
c.2343A= (p.Ala781=)
c.*826A= (n.*826A=)
c.*2350A= (n.*2350A=)
c.2100A= (p.Ala700=)
c.117A= (p.Ala39=)
c.176A=
c.1402-7861A= (n.1402-7861A=)
c.2436A= (p.Ala812=)
c.2616A= (p.Ala872=)
c.2283A= (p.Ala761=)
7g.117594965A>CCA457227570CFTRc.2526A>C (p.Ala842=)
c.*2240A>C (n.*2240A>C)
c.2343A>C (p.Ala781=)
c.*826A>C (n.*826A>C)
c.*2350A>C (n.*2350A>C)
c.2100A>C (p.Ala700=)
c.117A>C (p.Ala39=)
c.176A>C
c.1402-7861A>C (n.1402-7861A>C)
c.2436A>C (p.Ala812=)
c.2616A>C (p.Ala872=)
c.2283A>C (p.Ala761=)
7g.117594965A>GCA4451217CFTRc.2526A>G (p.Ala842=)
c.*2240A>G (n.*2240A>G)
c.2343A>G (p.Ala781=)
c.*826A>G (n.*826A>G)
c.*2350A>G (n.*2350A>G)
c.2100A>G (p.Ala700=)
c.117A>G (p.Ala39=)
c.176A>G
c.1402-7861A>G (n.1402-7861A>G)
c.2436A>G (p.Ala812=)
c.2616A>G (p.Ala872=)
c.2283A>G (p.Ala761=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117594965A>TCA457227571CFTRc.2526A>T (p.Ala842=)
c.*2240A>T (n.*2240A>T)
c.2343A>T (p.Ala781=)
c.*826A>T (n.*826A>T)
c.*2350A>T (n.*2350A>T)
c.2100A>T (p.Ala700=)
c.117A>T (p.Ala39=)
c.176A>T
c.1402-7861A>T (n.1402-7861A>T)
c.2436A>T (p.Ala812=)
c.2616A>T (p.Ala872=)
c.2283A>T (p.Ala761=)
7g.117594966G>ACA368983893CFTRc.2527G>A (p.Val843Met)
c.*2241G>A (n.*2241G>A)
c.2344G>A (p.Val782Met)
c.*827G>A (n.*827G>A)
c.*2351G>A (n.*2351G>A)
c.2101G>A (p.Val701Met)
c.118G>A (p.Val40Met)
c.177G>A
c.1402-7860G>A (n.1402-7860G>A)
c.2437G>A (p.Val813Met)
c.2617G>A (p.Val873Met)
c.2284G>A (p.Val762Met)
7g.117594966G>CCA368983892CFTRc.2527G>C (p.Val843Leu)
c.*2241G>C (n.*2241G>C)
c.2344G>C (p.Val782Leu)
c.*827G>C (n.*827G>C)
c.*2351G>C (n.*2351G>C)
c.2101G>C (p.Val701Leu)
c.118G>C (p.Val40Leu)
c.177G>C
c.1402-7860G>C (n.1402-7860G>C)
c.2437G>C (p.Val813Leu)
c.2617G>C (p.Val873Leu)
c.2284G>C (p.Val762Leu)
7g.117594966G>TCA368983891CFTRc.2527G>T (p.Val843Leu)
c.*2241G>T (n.*2241G>T)
c.2344G>T (p.Val782Leu)
c.*827G>T (n.*827G>T)
c.*2351G>T (n.*2351G>T)
c.2101G>T (p.Val701Leu)
c.118G>T (p.Val40Leu)
c.177G>T
c.1402-7860G>T (n.1402-7860G>T)
c.2437G>T (p.Val813Leu)
c.2617G>T (p.Val873Leu)
c.2284G>T (p.Val762Leu)
7g.117594967T>ACA368983894CFTRc.2528T>A (p.Val843Glu)
c.*2242T>A (n.*2242T>A)
c.2345T>A (p.Val782Glu)
c.*828T>A (n.*828T>A)
c.*2352T>A (n.*2352T>A)
c.2102T>A (p.Val701Glu)
c.119T>A (p.Val40Glu)
c.178T>A
c.1402-7859T>A (n.1402-7859T>A)
c.2438T>A (p.Val813Glu)
c.2618T>A (p.Val873Glu)
c.2285T>A (p.Val762Glu)
 ClinVar
7g.117594967T>CCA368983895CFTRc.2528T>C (p.Val843Ala)
c.*2242T>C (n.*2242T>C)
c.2345T>C (p.Val782Ala)
c.*828T>C (n.*828T>C)
c.*2352T>C (n.*2352T>C)
c.2102T>C (p.Val701Ala)
c.119T>C (p.Val40Ala)
c.178T>C
c.1402-7859T>C (n.1402-7859T>C)
c.2438T>C (p.Val813Ala)
c.2618T>C (p.Val873Ala)
c.2285T>C (p.Val762Ala)
7g.117594967T>GCA368983896CFTRc.2528T>G (p.Val843Gly)
c.*2242T>G (n.*2242T>G)
c.2345T>G (p.Val782Gly)
c.*828T>G (n.*828T>G)
c.*2352T>G (n.*2352T>G)
c.2102T>G (p.Val701Gly)
c.119T>G (p.Val40Gly)
c.178T>G
c.1402-7859T>G (n.1402-7859T>G)
c.2438T>G (p.Val813Gly)
c.2618T>G (p.Val873Gly)
c.2285T>G (p.Val762Gly)
7g.117594968G>ACA457227572CFTRc.2529G>A (p.Val843=)
c.*2243G>A (n.*2243G>A)
c.2346G>A (p.Val782=)
c.*829G>A (n.*829G>A)
c.*2353G>A (n.*2353G>A)
c.2103G>A (p.Val701=)
c.120G>A (p.Val40=)
c.179G>A
c.1402-7858G>A (n.1402-7858G>A)
c.2439G>A (p.Val813=)
c.2619G>A (p.Val873=)
c.2286G>A (p.Val762=)
 ClinVar
7g.117594968G>CCA457227573CFTRc.2529G>C (p.Val843=)
c.*2243G>C (n.*2243G>C)
c.2346G>C (p.Val782=)
c.*829G>C (n.*829G>C)
c.*2353G>C (n.*2353G>C)
c.2103G>C (p.Val701=)
c.120G>C (p.Val40=)
c.179G>C
c.1402-7858G>C (n.1402-7858G>C)
c.2439G>C (p.Val813=)
c.2619G>C (p.Val873=)
c.2286G>C (p.Val762=)
7g.117594968G>TCA457227574CFTRc.2529G>T (p.Val843=)
c.*2243G>T (n.*2243G>T)
c.2346G>T (p.Val782=)
c.*829G>T (n.*829G>T)
c.*2353G>T (n.*2353G>T)
c.2103G>T (p.Val701=)
c.120G>T (p.Val40=)
c.179G>T
c.1402-7858G>T (n.1402-7858G>T)
c.2439G>T (p.Val813=)
c.2619G>T (p.Val873=)
c.2286G>T (p.Val762=)
 ClinVar gnomAD v4
7g.117594969A>CCA368983897CFTRc.2530A>C (p.Thr844Pro)
c.*2244A>C (n.*2244A>C)
c.2347A>C (p.Thr783Pro)
c.*830A>C (n.*830A>C)
c.*2354A>C (n.*2354A>C)
c.2104A>C (p.Thr702Pro)
c.121A>C (p.Thr41Pro)
c.180A>C
c.1402-7857A>C (n.1402-7857A>C)
c.2440A>C (p.Thr814Pro)
c.2620A>C (p.Thr874Pro)
c.2287A>C (p.Thr763Pro)
7g.117594969A>GCA368983898CFTRc.2530A>G (p.Thr844Ala)
c.*2244A>G (n.*2244A>G)
c.2347A>G (p.Thr783Ala)
c.*830A>G (n.*830A>G)
c.*2354A>G (n.*2354A>G)
c.2104A>G (p.Thr702Ala)
c.121A>G (p.Thr41Ala)
c.180A>G
c.1402-7857A>G (n.1402-7857A>G)
c.2440A>G (p.Thr814Ala)
c.2620A>G (p.Thr874Ala)
c.2287A>G (p.Thr763Ala)
7g.117594969A>TCA368983899CFTRc.2530A>T (p.Thr844Ser)
c.*2244A>T (n.*2244A>T)
c.2347A>T (p.Thr783Ser)
c.*830A>T (n.*830A>T)
c.*2354A>T (n.*2354A>T)
c.2104A>T (p.Thr702Ser)
c.121A>T (p.Thr41Ser)
c.180A>T
c.1402-7857A>T (n.1402-7857A>T)
c.2440A>T (p.Thr814Ser)
c.2620A>T (p.Thr874Ser)
c.2287A>T (p.Thr763Ser)
7g.117594970C>ACA368983902CFTRc.2531C>A (p.Thr844Asn)
c.*2245C>A (n.*2245C>A)
c.2348C>A (p.Thr783Asn)
c.*831C>A (n.*831C>A)
c.*2355C>A (n.*2355C>A)
c.2105C>A (p.Thr702Asn)
c.122C>A (p.Thr41Asn)
c.181C>A
c.1402-7856C>A (n.1402-7856C>A)
c.2441C>A (p.Thr814Asn)
c.2621C>A (p.Thr874Asn)
c.2288C>A (p.Thr763Asn)
7g.117594970C=CA1737397747CFTRc.2531C= (p.Thr844=)
c.*2245C= (n.*2245C=)
c.2348C= (p.Thr783=)
c.*831C= (n.*831C=)
c.*2355C= (n.*2355C=)
c.2105C= (p.Thr702=)
c.122C= (p.Thr41=)
c.181C=
c.1402-7856C= (n.1402-7856C=)
c.2441C= (p.Thr814=)
c.2621C= (p.Thr874=)
c.2288C= (p.Thr763=)
7g.117594970C>GCA368983901CFTRc.2531C>G (p.Thr844Ser)
c.*2245C>G (n.*2245C>G)
c.2348C>G (p.Thr783Ser)
c.*831C>G (n.*831C>G)
c.*2355C>G (n.*2355C>G)
c.2105C>G (p.Thr702Ser)
c.122C>G (p.Thr41Ser)
c.181C>G
c.1402-7856C>G (n.1402-7856C>G)
c.2441C>G (p.Thr814Ser)
c.2621C>G (p.Thr874Ser)
c.2288C>G (p.Thr763Ser)
7g.117594970C>TCA368983900CFTRc.2531C>T (p.Thr844Ile)
c.*2245C>T (n.*2245C>T)
c.2348C>T (p.Thr783Ile)
c.*831C>T (n.*831C>T)
c.*2355C>T (n.*2355C>T)
c.2105C>T (p.Thr702Ile)
c.122C>T (p.Thr41Ile)
c.181C>T
c.1402-7856C>T (n.1402-7856C>T)
c.2441C>T (p.Thr814Ile)
c.2621C>T (p.Thr874Ile)
c.2288C>T (p.Thr763Ile)
 ClinVar dbSNP gnomAD v4
7g.117594971T>ACA457227575CFTRc.2532T>A (p.Thr844=)
c.*2246T>A (n.*2246T>A)
c.2349T>A (p.Thr783=)
c.*832T>A (n.*832T>A)
c.*2356T>A (n.*2356T>A)
c.2106T>A (p.Thr702=)
c.123T>A (p.Thr41=)
c.182T>A
c.1402-7855T>A (n.1402-7855T>A)
c.2442T>A (p.Thr814=)
c.2622T>A (p.Thr874=)
c.2289T>A (p.Thr763=)
7g.117594971T>CCA164949899CFTRc.2532T>C (p.Thr844=)
c.*2246T>C (n.*2246T>C)
c.2349T>C (p.Thr783=)
c.*832T>C (n.*832T>C)
c.*2356T>C (n.*2356T>C)
c.2106T>C (p.Thr702=)
c.123T>C (p.Thr41=)
c.182T>C
c.1402-7855T>C (n.1402-7855T>C)
c.2442T>C (p.Thr814=)
c.2622T>C (p.Thr874=)
c.2289T>C (p.Thr763=)
 dbSNP
7g.117594971T>GCA457227576CFTRc.2532T>G (p.Thr844=)
c.*2246T>G (n.*2246T>G)
c.2349T>G (p.Thr783=)
c.*832T>G (n.*832T>G)
c.*2356T>G (n.*2356T>G)
c.2106T>G (p.Thr702=)
c.123T>G (p.Thr41=)
c.182T>G
c.1402-7855T>G (n.1402-7855T>G)
c.2442T>G (p.Thr814=)
c.2622T>G (p.Thr874=)
c.2289T>G (p.Thr763=)
 ClinVar
7g.117594971T=CA1737397750CFTRc.2532T= (p.Thr844=)
c.*2246T= (n.*2246T=)
c.2349T= (p.Thr783=)
c.*832T= (n.*832T=)
c.*2356T= (n.*2356T=)
c.2106T= (p.Thr702=)
c.123T= (p.Thr41=)
c.182T=
c.1402-7855T= (n.1402-7855T=)
c.2442T= (p.Thr814=)
c.2622T= (p.Thr874=)
c.2289T= (p.Thr763=)
7g.117594972A>CCA368983903CFTRc.2533A>C (p.Thr845Pro)
c.*2247A>C (n.*2247A>C)
c.2350A>C (p.Thr784Pro)
c.*833A>C (n.*833A>C)
c.*2357A>C (n.*2357A>C)
c.2107A>C (p.Thr703Pro)
c.124A>C (p.Thr42Pro)
c.183A>C
c.1402-7854A>C (n.1402-7854A>C)
c.2443A>C (p.Thr815Pro)
c.2623A>C (p.Thr875Pro)
c.2290A>C (p.Thr764Pro)
 ClinVar
7g.117594972A>GCA368983904CFTRc.2533A>G (p.Thr845Ala)
c.*2247A>G (n.*2247A>G)
c.2350A>G (p.Thr784Ala)
c.*833A>G (n.*833A>G)
c.*2357A>G (n.*2357A>G)
c.2107A>G (p.Thr703Ala)
c.124A>G (p.Thr42Ala)
c.183A>G
c.1402-7854A>G (n.1402-7854A>G)
c.2443A>G (p.Thr815Ala)
c.2623A>G (p.Thr875Ala)
c.2290A>G (p.Thr764Ala)
7g.117594972A>TCA368983905CFTRc.2533A>T (p.Thr845Ser)
c.*2247A>T (n.*2247A>T)
c.2350A>T (p.Thr784Ser)
c.*833A>T (n.*833A>T)
c.*2357A>T (n.*2357A>T)
c.2107A>T (p.Thr703Ser)
c.124A>T (p.Thr42Ser)
c.183A>T
c.1402-7854A>T (n.1402-7854A>T)
c.2443A>T (p.Thr815Ser)
c.2623A>T (p.Thr875Ser)
c.2290A>T (p.Thr764Ser)
7g.117594973C>ACA368983906CFTRc.2534C>A (p.Thr845Lys)
c.*2248C>A (n.*2248C>A)
c.2351C>A (p.Thr784Lys)
c.*834C>A (n.*834C>A)
c.*2358C>A (n.*2358C>A)
c.2108C>A (p.Thr703Lys)
c.125C>A (p.Thr42Lys)
c.184C>A
c.1402-7853C>A (n.1402-7853C>A)
c.2444C>A (p.Thr815Lys)
c.2624C>A (p.Thr875Lys)
c.2291C>A (p.Thr764Lys)
7g.117594973C>GCA368983907CFTRc.2534C>G (p.Thr845Arg)
c.*2248C>G (n.*2248C>G)
c.2351C>G (p.Thr784Arg)
c.*834C>G (n.*834C>G)
c.*2358C>G (n.*2358C>G)
c.2108C>G (p.Thr703Arg)
c.125C>G (p.Thr42Arg)
c.184C>G
c.1402-7853C>G (n.1402-7853C>G)
c.2444C>G (p.Thr815Arg)
c.2624C>G (p.Thr875Arg)
c.2291C>G (p.Thr764Arg)
7g.117594973C>TCA368983908CFTRc.2534C>T (p.Thr845Ile)
c.*2248C>T (n.*2248C>T)
c.2351C>T (p.Thr784Ile)
c.*834C>T (n.*834C>T)
c.*2358C>T (n.*2358C>T)
c.2108C>T (p.Thr703Ile)
c.125C>T (p.Thr42Ile)
c.184C>T
c.1402-7853C>T (n.1402-7853C>T)
c.2444C>T (p.Thr815Ile)
c.2624C>T (p.Thr875Ile)
c.2291C>T (p.Thr764Ile)
 gnomAD v4
7g.117594974A>CCA457227578CFTRc.2535A>C (p.Thr845=)
c.*2249A>C (n.*2249A>C)
c.2352A>C (p.Thr784=)
c.*835A>C (n.*835A>C)
c.*2359A>C (n.*2359A>C)
c.2109A>C (p.Thr703=)
c.126A>C (p.Thr42=)
c.185A>C
c.1402-7852A>C (n.1402-7852A>C)
c.2445A>C (p.Thr815=)
c.2625A>C (p.Thr875=)
c.2292A>C (p.Thr764=)
7g.117594974A>GCA457227577CFTRc.2535A>G (p.Thr845=)
c.*2249A>G (n.*2249A>G)
c.2352A>G (p.Thr784=)
c.*835A>G (n.*835A>G)
c.*2359A>G (n.*2359A>G)
c.2109A>G (p.Thr703=)
c.126A>G (p.Thr42=)
c.185A>G
c.1402-7852A>G (n.1402-7852A>G)
c.2445A>G (p.Thr815=)
c.2625A>G (p.Thr875=)
c.2292A>G (p.Thr764=)
7g.117594974A>TCA457227579CFTRc.2535A>T (p.Thr845=)
c.*2249A>T (n.*2249A>T)
c.2352A>T (p.Thr784=)
c.*835A>T (n.*835A>T)
c.*2359A>T (n.*2359A>T)
c.2109A>T (p.Thr703=)
c.126A>T (p.Thr42=)
c.185A>T
c.1402-7852A>T (n.1402-7852A>T)
c.2445A>T (p.Thr815=)
c.2625A>T (p.Thr875=)
c.2292A>T (p.Thr764=)
7g.117594975T>ACA368983909CFTRc.2536T>A (p.Trp846Arg)
c.*2250T>A (n.*2250T>A)
c.2353T>A (p.Trp785Arg)
c.*836T>A (n.*836T>A)
c.*2360T>A (n.*2360T>A)
c.2110T>A (p.Trp704Arg)
c.127T>A (p.Trp43Arg)
c.186T>A
c.1402-7851T>A (n.1402-7851T>A)
c.2446T>A (p.Trp816Arg)
c.2626T>A (p.Trp876Arg)
c.2293T>A (p.Trp765Arg)
7g.117594975T>CCA368983911CFTRc.2536T>C (p.Trp846Arg)
c.*2250T>C (n.*2250T>C)
c.2353T>C (p.Trp785Arg)
c.*836T>C (n.*836T>C)
c.*2360T>C (n.*2360T>C)
c.2110T>C (p.Trp704Arg)
c.127T>C (p.Trp43Arg)
c.186T>C
c.1402-7851T>C (n.1402-7851T>C)
c.2446T>C (p.Trp816Arg)
c.2626T>C (p.Trp876Arg)
c.2293T>C (p.Trp765Arg)
7g.117594975T>GCA368983910CFTRc.2536T>G (p.Trp846Gly)
c.*2250T>G (n.*2250T>G)
c.2353T>G (p.Trp785Gly)
c.*836T>G (n.*836T>G)
c.*2360T>G (n.*2360T>G)
c.2110T>G (p.Trp704Gly)
c.127T>G (p.Trp43Gly)
c.186T>G
c.1402-7851T>G (n.1402-7851T>G)
c.2446T>G (p.Trp816Gly)
c.2626T>G (p.Trp876Gly)
c.2293T>G (p.Trp765Gly)
7g.117594976G>ACA328104CFTRc.2537G>A (p.Trp846Ter)
c.*2251G>A (n.*2251G>A)
c.2354G>A (p.Trp785Ter)
c.*837G>A (n.*837G>A)
c.*2361G>A (n.*2361G>A)
c.2111G>A (p.Trp704Ter)
c.128G>A (p.Trp43Ter)
c.187G>A
c.1402-7850G>A (n.1402-7850G>A)
c.2447G>A (p.Trp816Ter)
c.2627G>A (p.Trp876Ter)
c.2294G>A (p.Trp765Ter)
 ClinVar dbSNP gnomAD v3 gnomAD v4
7g.117594976G>CCA368983912CFTRc.2537G>C (p.Trp846Ser)
c.*2251G>C (n.*2251G>C)
c.2354G>C (p.Trp785Ser)
c.*837G>C (n.*837G>C)
c.*2361G>C (n.*2361G>C)
c.2111G>C (p.Trp704Ser)
c.128G>C (p.Trp43Ser)
c.187G>C
c.1402-7850G>C (n.1402-7850G>C)
c.2447G>C (p.Trp816Ser)
c.2627G>C (p.Trp876Ser)
c.2294G>C (p.Trp765Ser)
7g.117594976G=CA1737397752CFTRc.2537G= (p.Trp846=)
c.*2251G= (n.*2251G=)
c.2354G= (p.Trp785=)
c.*837G= (n.*837G=)
c.*2361G= (n.*2361G=)
c.2111G= (p.Trp704=)
c.128G= (p.Trp43=)
c.187G=
c.1402-7850G= (n.1402-7850G=)
c.2447G= (p.Trp816=)
c.2627G= (p.Trp876=)
c.2294G= (p.Trp765=)
7g.117594976G>TCA368983913CFTRc.2537G>T (p.Trp846Leu)
c.*2251G>T (n.*2251G>T)
c.2354G>T (p.Trp785Leu)
c.*837G>T (n.*837G>T)
c.*2361G>T (n.*2361G>T)
c.2111G>T (p.Trp704Leu)
c.128G>T (p.Trp43Leu)
c.187G>T
c.1402-7850G>T (n.1402-7850G>T)
c.2447G>T (p.Trp816Leu)
c.2627G>T (p.Trp876Leu)
c.2294G>T (p.Trp765Leu)
 gnomAD v4
7g.117594977G>ACA325527CFTRc.2538G>A (p.Trp846Ter)
c.*2252G>A (n.*2252G>A)
c.2355G>A (p.Trp785Ter)
c.*838G>A (n.*838G>A)
c.*2362G>A (n.*2362G>A)
c.2112G>A (p.Trp704Ter)
c.129G>A (p.Trp43Ter)
c.188G>A
c.1402-7849G>A (n.1402-7849G>A)
c.2448G>A (p.Trp816Ter)
c.2628G>A (p.Trp876Ter)
c.2295G>A (p.Trp765Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
7g.117594977G>CCA368983914CFTRc.2538G>C (p.Trp846Cys)
c.*2252G>C (n.*2252G>C)
c.2355G>C (p.Trp785Cys)
c.*838G>C (n.*838G>C)
c.*2362G>C (n.*2362G>C)
c.2112G>C (p.Trp704Cys)
c.129G>C (p.Trp43Cys)
c.188G>C
c.1402-7849G>C (n.1402-7849G>C)
c.2448G>C (p.Trp816Cys)
c.2628G>C (p.Trp876Cys)
c.2295G>C (p.Trp765Cys)
7g.117594977G=CA1737397758CFTRc.2538G= (p.Trp846=)
c.*2252G= (n.*2252G=)
c.2355G= (p.Trp785=)
c.*838G= (n.*838G=)
c.*2362G= (n.*2362G=)
c.2112G= (p.Trp704=)
c.129G= (p.Trp43=)
c.188G=
c.1402-7849G= (n.1402-7849G=)
c.2448G= (p.Trp816=)
c.2628G= (p.Trp876=)
c.2295G= (p.Trp765=)
7g.117594977G>TCA368983915CFTRc.2538G>T (p.Trp846Cys)
c.*2252G>T (n.*2252G>T)
c.2355G>T (p.Trp785Cys)
c.*838G>T (n.*838G>T)
c.*2362G>T (n.*2362G>T)
c.2112G>T (p.Trp704Cys)
c.129G>T (p.Trp43Cys)
c.188G>T
c.1402-7849G>T (n.1402-7849G>T)
c.2448G>T (p.Trp816Cys)
c.2628G>T (p.Trp876Cys)
c.2295G>T (p.Trp765Cys)
7g.117594978A=CA1737397760CFTRc.2539A= (p.Asn847=)
c.*2253A= (n.*2253A=)
c.2356A= (p.Asn786=)
c.*839A= (n.*839A=)
c.*2363A= (n.*2363A=)
c.2113A= (p.Asn705=)
c.130A= (p.Asn44=)
c.189A=
c.1402-7848A= (n.1402-7848A=)
c.2449A= (p.Asn817=)
c.2629A= (p.Asn877=)
c.2296A= (p.Asn766=)
7g.117594978A>CCA368983916CFTRc.2539A>C (p.Asn847His)
c.*2253A>C (n.*2253A>C)
c.2356A>C (p.Asn786His)
c.*839A>C (n.*839A>C)
c.*2363A>C (n.*2363A>C)
c.2113A>C (p.Asn705His)
c.130A>C (p.Asn44His)
c.189A>C
c.1402-7848A>C (n.1402-7848A>C)
c.2449A>C (p.Asn817His)
c.2629A>C (p.Asn877His)
c.2296A>C (p.Asn766His)
7g.117594978A>GCA368983917CFTRc.2539A>G (p.Asn847Asp)
c.*2253A>G (n.*2253A>G)
c.2356A>G (p.Asn786Asp)
c.*839A>G (n.*839A>G)
c.*2363A>G (n.*2363A>G)
c.2113A>G (p.Asn705Asp)
c.130A>G (p.Asn44Asp)
c.189A>G
c.1402-7848A>G (n.1402-7848A>G)
c.2449A>G (p.Asn817Asp)
c.2629A>G (p.Asn877Asp)
c.2296A>G (p.Asn766Asp)
 dbSNP
7g.117594978A>TCA368983918CFTRc.2539A>T (p.Asn847Tyr)
c.*2253A>T (n.*2253A>T)
c.2356A>T (p.Asn786Tyr)
c.*839A>T (n.*839A>T)
c.*2363A>T (n.*2363A>T)
c.2113A>T (p.Asn705Tyr)
c.130A>T (p.Asn44Tyr)
c.189A>T
c.1402-7848A>T (n.1402-7848A>T)
c.2449A>T (p.Asn817Tyr)
c.2629A>T (p.Asn877Tyr)
c.2296A>T (p.Asn766Tyr)
7g.117594979A=CA1737397763CFTRc.2540A= (p.Asn847=)
c.*2254A= (n.*2254A=)
c.2357A= (p.Asn786=)
c.*840A= (n.*840A=)
c.*2364A= (n.*2364A=)
c.2114A= (p.Asn705=)
c.131A= (p.Asn44=)
c.190A=
c.1402-7847A= (n.1402-7847A=)
c.2450A= (p.Asn817=)
c.2630A= (p.Asn877=)
c.2297A= (p.Asn766=)
7g.117594979A>CCA368983919CFTRc.2540A>C (p.Asn847Thr)
c.*2254A>C (n.*2254A>C)
c.2357A>C (p.Asn786Thr)
c.*840A>C (n.*840A>C)
c.*2364A>C (n.*2364A>C)
c.2114A>C (p.Asn705Thr)
c.131A>C (p.Asn44Thr)
c.190A>C
c.1402-7847A>C (n.1402-7847A>C)
c.2450A>C (p.Asn817Thr)
c.2630A>C (p.Asn877Thr)
c.2297A>C (p.Asn766Thr)
7g.117594979A>GCA4451218CFTRc.2540A>G (p.Asn847Ser)
c.*2254A>G (n.*2254A>G)
c.2357A>G (p.Asn786Ser)
c.*840A>G (n.*840A>G)
c.*2364A>G (n.*2364A>G)
c.2114A>G (p.Asn705Ser)
c.131A>G (p.Asn44Ser)
c.190A>G
c.1402-7847A>G (n.1402-7847A>G)
c.2450A>G (p.Asn817Ser)
c.2630A>G (p.Asn877Ser)
c.2297A>G (p.Asn766Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117594979A>TCA368983920CFTRc.2540A>T (p.Asn847Ile)
c.*2254A>T (n.*2254A>T)
c.2357A>T (p.Asn786Ile)
c.*840A>T (n.*840A>T)
c.*2364A>T (n.*2364A>T)
c.2114A>T (p.Asn705Ile)
c.131A>T (p.Asn44Ile)
c.190A>T
c.1402-7847A>T (n.1402-7847A>T)
c.2450A>T (p.Asn817Ile)
c.2630A>T (p.Asn877Ile)
c.2297A>T (p.Asn766Ile)
7g.117594980C>ACA368983921CFTRc.2541C>A (p.Asn847Lys)
c.*2255C>A (n.*2255C>A)
c.2358C>A (p.Asn786Lys)
c.*841C>A (n.*841C>A)
c.*2365C>A (n.*2365C>A)
c.2115C>A (p.Asn705Lys)
c.132C>A (p.Asn44Lys)
c.191C>A
c.1402-7846C>A (n.1402-7846C>A)
c.2451C>A (p.Asn817Lys)
c.2631C>A (p.Asn877Lys)
c.2298C>A (p.Asn766Lys)
 gnomAD v4
7g.117594980C>GCA368983922CFTRc.2541C>G (p.Asn847Lys)
c.*2255C>G (n.*2255C>G)
c.2358C>G (p.Asn786Lys)
c.*841C>G (n.*841C>G)
c.*2365C>G (n.*2365C>G)
c.2115C>G (p.Asn705Lys)
c.132C>G (p.Asn44Lys)
c.191C>G
c.1402-7846C>G (n.1402-7846C>G)
c.2451C>G (p.Asn817Lys)
c.2631C>G (p.Asn877Lys)
c.2298C>G (p.Asn766Lys)
7g.117594980C>TCA457227580CFTRc.2541C>T (p.Asn847=)
c.*2255C>T (n.*2255C>T)
c.2358C>T (p.Asn786=)
c.*841C>T (n.*841C>T)
c.*2365C>T (n.*2365C>T)
c.2115C>T (p.Asn705=)
c.132C>T (p.Asn44=)
c.191C>T
c.1402-7846C>T (n.1402-7846C>T)
c.2451C>T (p.Asn817=)
c.2631C>T (p.Asn877=)
c.2298C>T (p.Asn766=)
7g.117594981A>CCA368983923CFTRc.2542A>C (p.Thr848Pro)
c.*2256A>C (n.*2256A>C)
c.2359A>C (p.Thr787Pro)
c.*842A>C (n.*842A>C)
c.*2366A>C (n.*2366A>C)
c.2116A>C (p.Thr706Pro)
c.133A>C (p.Thr45Pro)
c.192A>C
c.1402-7845A>C (n.1402-7845A>C)
c.2452A>C (p.Thr818Pro)
c.2632A>C (p.Thr878Pro)
c.2299A>C (p.Thr767Pro)
7g.117594981A>GCA368983925CFTRc.2542A>G (p.Thr848Ala)
c.*2256A>G (n.*2256A>G)
c.2359A>G (p.Thr787Ala)
c.*842A>G (n.*842A>G)
c.*2366A>G (n.*2366A>G)
c.2116A>G (p.Thr706Ala)
c.133A>G (p.Thr45Ala)
c.192A>G
c.1402-7845A>G (n.1402-7845A>G)
c.2452A>G (p.Thr818Ala)
c.2632A>G (p.Thr878Ala)
c.2299A>G (p.Thr767Ala)
7g.117594981A>TCA368983924CFTRc.2542A>T (p.Thr848Ser)
c.*2256A>T (n.*2256A>T)
c.2359A>T (p.Thr787Ser)
c.*842A>T (n.*842A>T)
c.*2366A>T (n.*2366A>T)
c.2116A>T (p.Thr706Ser)
c.133A>T (p.Thr45Ser)
c.192A>T
c.1402-7845A>T (n.1402-7845A>T)
c.2452A>T (p.Thr818Ser)
c.2632A>T (p.Thr878Ser)
c.2299A>T (p.Thr767Ser)
7g.117594982C>ACA368983926CFTRc.2543C>A (p.Thr848Lys)
c.*2257C>A (n.*2257C>A)
c.2360C>A (p.Thr787Lys)
c.*843C>A (n.*843C>A)
c.*2367C>A (n.*2367C>A)
c.2117C>A (p.Thr706Lys)
c.134C>A (p.Thr45Lys)
c.193C>A
c.1402-7844C>A (n.1402-7844C>A)
c.2453C>A (p.Thr818Lys)
c.2633C>A (p.Thr878Lys)
c.2300C>A (p.Thr767Lys)
7g.117594982C>GCA368983928CFTRc.2543C>G (p.Thr848Arg)
c.*2257C>G (n.*2257C>G)
c.2360C>G (p.Thr787Arg)
c.*843C>G (n.*843C>G)
c.*2367C>G (n.*2367C>G)
c.2117C>G (p.Thr706Arg)
c.134C>G (p.Thr45Arg)
c.193C>G
c.1402-7844C>G (n.1402-7844C>G)
c.2453C>G (p.Thr818Arg)
c.2633C>G (p.Thr878Arg)
c.2300C>G (p.Thr767Arg)
 ClinVar
7g.117594982C>TCA368983927CFTRc.2543C>T (p.Thr848Ile)
c.*2257C>T (n.*2257C>T)
c.2360C>T (p.Thr787Ile)
c.*843C>T (n.*843C>T)
c.*2367C>T (n.*2367C>T)
c.2117C>T (p.Thr706Ile)
c.134C>T (p.Thr45Ile)
c.193C>T
c.1402-7844C>T (n.1402-7844C>T)
c.2453C>T (p.Thr818Ile)
c.2633C>T (p.Thr878Ile)
c.2300C>T (p.Thr767Ile)
7g.117594982_117594983insTGTATACCTTCGTAATCA2684619532CFTRc.2543_2544insTGTATACCTTCGTAAT (p.Tyr849ValfsTer?)
c.*2257_*2258insTGTATACCTTCGTAAT (n.*2257_*2258insTGTATACCTTCGTAAT)
c.2360_2361insTGTATACCTTCGTAAT (p.Tyr788ValfsTer?)
c.*843_*844insTGTATACCTTCGTAAT (n.*843_*844insTGTATACCTTCGTAAT)
c.*2367_*2368insTGTATACCTTCGTAAT (n.*2367_*2368insTGTATACCTTCGTAAT)
c.2117_2118insTGTATACCTTCGTAAT (p.Tyr707ValfsTer?)
c.134_135insTGTATACCTTCGTAAT (p.Tyr46ValfsTer?)
c.193_194insTGTATACCTTCGTAAT
c.1402-7844_1402-7843insTGTATACCTTCGTAAT (n.1402-7844_1402-7843insTGTATACCTTCGTAAT)
c.2453_2454insTGTATACCTTCGTAAT (p.Tyr819ValfsTer?)
c.2633_2634insTGTATACCTTCGTAAT (p.Tyr879ValfsTer?)
c.2300_2301insTGTATACCTTCGTAAT (p.Tyr768ValfsTer?)
 gnomAD v4
7g.117594983A=CA1737397771CFTRc.2544A= (p.Thr848=)
c.*2258A= (n.*2258A=)
c.2361A= (p.Thr787=)
c.*844A= (n.*844A=)
c.*2368A= (n.*2368A=)
c.2118A= (p.Thr706=)
c.135A= (p.Thr45=)
c.194A=
c.1402-7843A= (n.1402-7843A=)
c.2454A= (p.Thr818=)
c.2634A= (p.Thr878=)
c.2301A= (p.Thr767=)
7g.117594983A>CCA457227581CFTRc.2544A>C (p.Thr848=)
c.*2258A>C (n.*2258A>C)
c.2361A>C (p.Thr787=)
c.*844A>C (n.*844A>C)
c.*2368A>C (n.*2368A>C)
c.2118A>C (p.Thr706=)
c.135A>C (p.Thr45=)
c.194A>C
c.1402-7843A>C (n.1402-7843A>C)
c.2454A>C (p.Thr818=)
c.2634A>C (p.Thr878=)
c.2301A>C (p.Thr767=)
7g.117594983A>GCA457227582CFTRc.2544A>G (p.Thr848=)
c.*2258A>G (n.*2258A>G)
c.2361A>G (p.Thr787=)
c.*844A>G (n.*844A>G)
c.*2368A>G (n.*2368A>G)
c.2118A>G (p.Thr706=)
c.135A>G (p.Thr45=)
c.194A>G
c.1402-7843A>G (n.1402-7843A>G)
c.2454A>G (p.Thr818=)
c.2634A>G (p.Thr878=)
c.2301A>G (p.Thr767=)
7g.117594983A>TCA4451219CFTRc.2544A>T (p.Thr848=)
c.*2258A>T (n.*2258A>T)
c.2361A>T (p.Thr787=)
c.*844A>T (n.*844A>T)
c.*2368A>T (n.*2368A>T)
c.2118A>T (p.Thr706=)
c.135A>T (p.Thr45=)
c.194A>T
c.1402-7843A>T (n.1402-7843A>T)
c.2454A>T (p.Thr818=)
c.2634A>T (p.Thr878=)
c.2301A>T (p.Thr767=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117594984T>ACA368983929CFTRc.2545T>A (p.Tyr849Asn)
c.*2259T>A (n.*2259T>A)
c.2362T>A (p.Tyr788Asn)
c.*845T>A (n.*845T>A)
c.*2369T>A (n.*2369T>A)
c.2119T>A (p.Tyr707Asn)
c.136T>A (p.Tyr46Asn)
c.195T>A
c.1402-7842T>A (n.1402-7842T>A)
c.2455T>A (p.Tyr819Asn)
c.2635T>A (p.Tyr879Asn)
c.2302T>A (p.Tyr768Asn)
 ClinVar dbSNP
7g.117594984T>CCA4451220CFTRc.2545T>C (p.Tyr849His)
c.*2259T>C (n.*2259T>C)
c.2362T>C (p.Tyr788His)
c.*845T>C (n.*845T>C)
c.*2369T>C (n.*2369T>C)
c.2119T>C (p.Tyr707His)
c.136T>C (p.Tyr46His)
c.195T>C
c.1402-7842T>C (n.1402-7842T>C)
c.2455T>C (p.Tyr819His)
c.2635T>C (p.Tyr879His)
c.2302T>C (p.Tyr768His)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.117594984T>GCA368983930CFTRc.2545T>G (p.Tyr849Asp)
c.*2259T>G (n.*2259T>G)
c.2362T>G (p.Tyr788Asp)
c.*845T>G (n.*845T>G)
c.*2369T>G (n.*2369T>G)
c.2119T>G (p.Tyr707Asp)
c.136T>G (p.Tyr46Asp)
c.195T>G
c.1402-7842T>G (n.1402-7842T>G)
c.2455T>G (p.Tyr819Asp)
c.2635T>G (p.Tyr879Asp)
c.2302T>G (p.Tyr768Asp)
7g.117594984T=CA1737397777CFTRc.2545T= (p.Tyr849=)
c.*2259T= (n.*2259T=)
c.2362T= (p.Tyr788=)
c.*845T= (n.*845T=)
c.*2369T= (n.*2369T=)
c.2119T= (p.Tyr707=)
c.136T= (p.Tyr46=)
c.195T=
c.1402-7842T= (n.1402-7842T=)
c.2455T= (p.Tyr819=)
c.2635T= (p.Tyr879=)
c.2302T= (p.Tyr768=)
7g.117594985A=CA1737397780CFTRc.2546A= (p.Tyr849=)
c.*2260A= (n.*2260A=)
c.2363A= (p.Tyr788=)
c.*846A= (n.*846A=)
c.*2370A= (n.*2370A=)
c.2120A= (p.Tyr707=)
c.137A= (p.Tyr46=)
c.196A=
c.1402-7841A= (n.1402-7841A=)
c.2456A= (p.Tyr819=)
c.2636A= (p.Tyr879=)
c.2303A= (p.Tyr768=)
7g.117594985A>CCA368983931CFTRc.2546A>C (p.Tyr849Ser)
c.*2260A>C (n.*2260A>C)
c.2363A>C (p.Tyr788Ser)
c.*846A>C (n.*846A>C)
c.*2370A>C (n.*2370A>C)
c.2120A>C (p.Tyr707Ser)
c.137A>C (p.Tyr46Ser)
c.196A>C
c.1402-7841A>C (n.1402-7841A>C)
c.2456A>C (p.Tyr819Ser)
c.2636A>C (p.Tyr879Ser)
c.2303A>C (p.Tyr768Ser)
7g.117594985A>GCA4451221CFTRc.2546A>G (p.Tyr849Cys)
c.*2260A>G (n.*2260A>G)
c.2363A>G (p.Tyr788Cys)
c.*846A>G (n.*846A>G)
c.*2370A>G (n.*2370A>G)
c.2120A>G (p.Tyr707Cys)
c.137A>G (p.Tyr46Cys)
c.196A>G
c.1402-7841A>G (n.1402-7841A>G)
c.2456A>G (p.Tyr819Cys)
c.2636A>G (p.Tyr879Cys)
c.2303A>G (p.Tyr768Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.117594985A>TCA368983932CFTRc.2546A>T (p.Tyr849Phe)
c.*2260A>T (n.*2260A>T)
c.2363A>T (p.Tyr788Phe)
c.*846A>T (n.*846A>T)
c.*2370A>T (n.*2370A>T)
c.2120A>T (p.Tyr707Phe)
c.137A>T (p.Tyr46Phe)
c.196A>T
c.1402-7841A>T (n.1402-7841A>T)
c.2456A>T (p.Tyr819Phe)
c.2636A>T (p.Tyr879Phe)
c.2303A>T (p.Tyr768Phe)
7g.117594986C>ACA326841CFTRc.2547C>A (p.Tyr849Ter)
c.*2261C>A (n.*2261C>A)
c.2364C>A (p.Tyr788Ter)
c.*847C>A (n.*847C>A)
c.*2371C>A (n.*2371C>A)
c.2121C>A (p.Tyr707Ter)
c.138C>A (p.Tyr46Ter)
c.197C>A
c.1402-7840C>A (n.1402-7840C>A)
c.2457C>A (p.Tyr819Ter)
c.2637C>A (p.Tyr879Ter)
c.2304C>A (p.Tyr768Ter)
 ClinVar dbSNP gnomAD v4
7g.117594986C=CA1737397785CFTRc.2547C= (p.Tyr849=)
c.*2261C= (n.*2261C=)
c.2364C= (p.Tyr788=)
c.*847C= (n.*847C=)
c.*2371C= (n.*2371C=)
c.2121C= (p.Tyr707=)
c.138C= (p.Tyr46=)
c.197C=
c.1402-7840C= (n.1402-7840C=)
c.2457C= (p.Tyr819=)
c.2637C= (p.Tyr879=)
c.2304C= (p.Tyr768=)
7g.117594986C>GCA368983933CFTRc.2547C>G (p.Tyr849Ter)
c.*2261C>G (n.*2261C>G)
c.2364C>G (p.Tyr788Ter)
c.*847C>G (n.*847C>G)
c.*2371C>G (n.*2371C>G)
c.2121C>G (p.Tyr707Ter)
c.138C>G (p.Tyr46Ter)
c.197C>G
c.1402-7840C>G (n.1402-7840C>G)
c.2457C>G (p.Tyr819Ter)
c.2637C>G (p.Tyr879Ter)
c.2304C>G (p.Tyr768Ter)
7g.117594986C>TCA457227583CFTRc.2547C>T (p.Tyr849=)
c.*2261C>T (n.*2261C>T)
c.2364C>T (p.Tyr788=)
c.*847C>T (n.*847C>T)
c.*2371C>T (n.*2371C>T)
c.2121C>T (p.Tyr707=)
c.138C>T (p.Tyr46=)
c.197C>T
c.1402-7840C>T (n.1402-7840C>T)
c.2457C>T (p.Tyr819=)
c.2637C>T (p.Tyr879=)
c.2304C>T (p.Tyr768=)
 ClinVar dbSNP gnomAD v4
7g.117594987C>ACA368983934CFTRc.2548C>A (p.Leu850Ile)
c.*2262C>A (n.*2262C>A)
c.2365C>A (p.Leu789Ile)
c.*848C>A (n.*848C>A)
c.*2372C>A (n.*2372C>A)
c.2122C>A (p.Leu708Ile)
c.139C>A (p.Leu47Ile)
c.198C>A
c.1402-7839C>A (n.1402-7839C>A)
c.2458C>A (p.Leu820Ile)
c.2638C>A (p.Leu880Ile)
c.2305C>A (p.Leu769Ile)
7g.117594987C>GCA368983935CFTRc.2548C>G (p.Leu850Val)
c.*2262C>G (n.*2262C>G)
c.2365C>G (p.Leu789Val)
c.*848C>G (n.*848C>G)
c.*2372C>G (n.*2372C>G)
c.2122C>G (p.Leu708Val)
c.139C>G (p.Leu47Val)
c.198C>G
c.1402-7839C>G (n.1402-7839C>G)
c.2458C>G (p.Leu820Val)
c.2638C>G (p.Leu880Val)
c.2305C>G (p.Leu769Val)
7g.117594987C>TCA368983936CFTRc.2548C>T (p.Leu850Phe)
c.*2262C>T (n.*2262C>T)
c.2365C>T (p.Leu789Phe)
c.*848C>T (n.*848C>T)
c.*2372C>T (n.*2372C>T)
c.2122C>T (p.Leu708Phe)
c.139C>T (p.Leu47Phe)
c.198C>T
c.1402-7839C>T (n.1402-7839C>T)
c.2458C>T (p.Leu820Phe)
c.2638C>T (p.Leu880Phe)
c.2305C>T (p.Leu769Phe)
 gnomAD v3 gnomAD v4 COSMIC
7g.117594988T>ACA368983937CFTRc.2549T>A (p.Leu850His)
c.*2263T>A (n.*2263T>A)
c.2366T>A (p.Leu789His)
c.*849T>A (n.*849T>A)
c.*2373T>A (n.*2373T>A)
c.2123T>A (p.Leu708His)
c.140T>A (p.Leu47His)
c.199T>A
c.1402-7838T>A (n.1402-7838T>A)
c.2459T>A (p.Leu820His)
c.2639T>A (p.Leu880His)
c.2306T>A (p.Leu769His)
7g.117594988T>CCA368983938CFTRc.2549T>C (p.Leu850Pro)
c.*2263T>C (n.*2263T>C)
c.2366T>C (p.Leu789Pro)
c.*849T>C (n.*849T>C)
c.*2373T>C (n.*2373T>C)
c.2123T>C (p.Leu708Pro)
c.140T>C (p.Leu47Pro)
c.199T>C
c.1402-7838T>C (n.1402-7838T>C)
c.2459T>C (p.Leu820Pro)
c.2639T>C (p.Leu880Pro)
c.2306T>C (p.Leu769Pro)
7g.117594988T>GCA368983939CFTRc.2549T>G (p.Leu850Arg)
c.*2263T>G (n.*2263T>G)
c.2366T>G (p.Leu789Arg)
c.*849T>G (n.*849T>G)
c.*2373T>G (n.*2373T>G)
c.2123T>G (p.Leu708Arg)
c.140T>G (p.Leu47Arg)
c.199T>G
c.1402-7838T>G (n.1402-7838T>G)
c.2459T>G (p.Leu820Arg)
c.2639T>G (p.Leu880Arg)
c.2306T>G (p.Leu769Arg)
 ClinVar gnomAD v4
7g.117594989T>ACA457227584CFTRc.2550T>A (p.Leu850=)
c.*2264T>A (n.*2264T>A)
c.2367T>A (p.Leu789=)
c.*850T>A (n.*850T>A)
c.*2374T>A (n.*2374T>A)
c.2124T>A (p.Leu708=)
c.141T>A (p.Leu47=)
c.200T>A
c.1402-7837T>A (n.1402-7837T>A)
c.2460T>A (p.Leu820=)
c.2640T>A (p.Leu880=)
c.2307T>A (p.Leu769=)
7g.117594989T>CCA457227585CFTRc.2550T>C (p.Leu850=)
c.*2264T>C (n.*2264T>C)
c.2367T>C (p.Leu789=)
c.*850T>C (n.*850T>C)
c.*2374T>C (n.*2374T>C)
c.2124T>C (p.Leu708=)
c.141T>C (p.Leu47=)
c.200T>C
c.1402-7837T>C (n.1402-7837T>C)
c.2460T>C (p.Leu820=)
c.2640T>C (p.Leu880=)
c.2307T>C (p.Leu769=)
7g.117594989T>GCA457227586CFTRc.2550T>G (p.Leu850=)
c.*2264T>G (n.*2264T>G)
c.2367T>G (p.Leu789=)
c.*850T>G (n.*850T>G)
c.*2374T>G (n.*2374T>G)
c.2124T>G (p.Leu708=)
c.141T>G (p.Leu47=)
c.200T>G
c.1402-7837T>G (n.1402-7837T>G)
c.2460T>G (p.Leu820=)
c.2640T>G (p.Leu880=)
c.2307T>G (p.Leu769=)
7g.117594990C>ACA457227587CFTRc.2551C>A (p.Arg851=)
c.*2265C>A (n.*2265C>A)
c.2368C>A (p.Arg790=)
c.*851C>A (n.*851C>A)
c.*2375C>A (n.*2375C>A)
c.2125C>A (p.Arg709=)
c.142C>A (p.Arg48=)
c.201C>A
c.1402-7836C>A (n.1402-7836C>A)
c.2461C>A (p.Arg821=)
c.2641C>A (p.Arg881=)
c.2308C>A (p.Arg770=)
 gnomAD v4
7g.117594990C=CA1737397791CFTRc.2551C= (p.Arg851=)
c.*2265C= (n.*2265C=)
c.2368C= (p.Arg790=)
c.*851C= (n.*851C=)
c.*2375C= (n.*2375C=)
c.2125C= (p.Arg709=)
c.142C= (p.Arg48=)
c.201C=
c.1402-7836C= (n.1402-7836C=)
c.2461C= (p.Arg821=)
c.2641C= (p.Arg881=)
c.2308C= (p.Arg770=)
7g.117594990C>GCA368983940CFTRc.2551C>G (p.Arg851Gly)
c.*2265C>G (n.*2265C>G)
c.2368C>G (p.Arg790Gly)
c.*851C>G (n.*851C>G)
c.*2375C>G (n.*2375C>G)
c.2125C>G (p.Arg709Gly)
c.142C>G (p.Arg48Gly)
c.201C>G
c.1402-7836C>G (n.1402-7836C>G)
c.2461C>G (p.Arg821Gly)
c.2641C>G (p.Arg881Gly)
c.2308C>G (p.Arg770Gly)
7g.117594990C>TCA340645CFTRc.2551C>T (p.Arg851Ter)
c.*2265C>T (n.*2265C>T)
c.2368C>T (p.Arg790Ter)
c.*851C>T (n.*851C>T)
c.*2375C>T (n.*2375C>T)
c.2125C>T (p.Arg709Ter)
c.142C>T (p.Arg48Ter)
c.201C>T
c.1402-7836C>T (n.1402-7836C>T)
c.2461C>T (p.Arg821Ter)
c.2641C>T (p.Arg881Ter)
c.2308C>T (p.Arg770Ter)
 ClinVar dbSNP ExAC gnomAD v4
7g.117594991G>ACA4451222CFTRc.2552G>A (p.Arg851Gln)
c.*2266G>A (n.*2266G>A)
c.2369G>A (p.Arg790Gln)
c.*852G>A (n.*852G>A)
c.*2376G>A (n.*2376G>A)
c.2126G>A (p.Arg709Gln)
c.143G>A (p.Arg48Gln)
c.202G>A
c.1402-7835G>A (n.1402-7835G>A)
c.2462G>A (p.Arg821Gln)
c.2642G>A (p.Arg881Gln)
c.2309G>A (p.Arg770Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
7g.117594991G>CCA368983941CFTRc.2552G>C (p.Arg851Pro)
c.*2266G>C (n.*2266G>C)
c.2369G>C (p.Arg790Pro)
c.*852G>C (n.*852G>C)
c.*2376G>C (n.*2376G>C)
c.2126G>C (p.Arg709Pro)
c.143G>C (p.Arg48Pro)
c.202G>C
c.1402-7835G>C (n.1402-7835G>C)
c.2462G>C (p.Arg821Pro)
c.2642G>C (p.Arg881Pro)
c.2309G>C (p.Arg770Pro)
7g.117594991G=CA1737397799CFTRc.2552G= (p.Arg851=)
c.*2266G= (n.*2266G=)
c.2369G= (p.Arg790=)
c.*852G= (n.*852G=)
c.*2376G= (n.*2376G=)
c.2126G= (p.Arg709=)
c.143G= (p.Arg48=)
c.202G=
c.1402-7835G= (n.1402-7835G=)
c.2462G= (p.Arg821=)
c.2642G= (p.Arg881=)
c.2309G= (p.Arg770=)
7g.117594991G>TCA326845CFTRc.2552G>T (p.Arg851Leu)
c.*2266G>T (n.*2266G>T)
c.2369G>T (p.Arg790Leu)
c.*852G>T (n.*852G>T)
c.*2376G>T (n.*2376G>T)
c.2126G>T (p.Arg709Leu)
c.143G>T (p.Arg48Leu)
c.202G>T
c.1402-7835G>T (n.1402-7835G>T)
c.2462G>T (p.Arg821Leu)
c.2642G>T (p.Arg881Leu)
c.2309G>T (p.Arg770Leu)
 ClinVar dbSNP gnomAD v3 gnomAD v4
7g.117594992A=CA1737397806CFTRc.2553A= (p.Arg851=)
c.*2267A= (n.*2267A=)
c.2370A= (p.Arg790=)
c.*853A= (n.*853A=)
c.*2377A= (n.*2377A=)
c.2127A= (p.Arg709=)
c.144A= (p.Arg48=)
c.203A=
c.1402-7834A= (n.1402-7834A=)
c.2463A= (p.Arg821=)
c.2643A= (p.Arg881=)
c.2310A= (p.Arg770=)
7g.117594992A>CCA457227589CFTRc.2553A>C (p.Arg851=)
c.*2267A>C (n.*2267A>C)
c.2370A>C (p.Arg790=)
c.*853A>C (n.*853A>C)
c.*2377A>C (n.*2377A>C)
c.2127A>C (p.Arg709=)
c.144A>C (p.Arg48=)
c.203A>C
c.1402-7834A>C (n.1402-7834A>C)
c.2463A>C (p.Arg821=)
c.2643A>C (p.Arg881=)
c.2310A>C (p.Arg770=)
7g.117594992A>GCA457227590CFTRc.2553A>G (p.Arg851=)
c.*2267A>G (n.*2267A>G)
c.2370A>G (p.Arg790=)
c.*853A>G (n.*853A>G)
c.*2377A>G (n.*2377A>G)
c.2127A>G (p.Arg709=)
c.144A>G (p.Arg48=)
c.203A>G
c.1402-7834A>G (n.1402-7834A>G)
c.2463A>G (p.Arg821=)
c.2643A>G (p.Arg881=)
c.2310A>G (p.Arg770=)
7g.117594992A>TCA457227591CFTRc.2553A>T (p.Arg851=)
c.*2267A>T (n.*2267A>T)
c.2370A>T (p.Arg790=)
c.*853A>T (n.*853A>T)
c.*2377A>T (n.*2377A>T)
c.2127A>T (p.Arg709=)
c.144A>T (p.Arg48=)
c.203A>T
c.1402-7834A>T (n.1402-7834A>T)
c.2463A>T (p.Arg821=)
c.2643A>T (p.Arg881=)
c.2310A>T (p.Arg770=)
7g.117594993T>ACA368983942CFTRc.2554T>A (p.Tyr852Asn)
c.*2268T>A (n.*2268T>A)
c.2371T>A (p.Tyr791Asn)
c.*854T>A (n.*854T>A)
c.*2378T>A (n.*2378T>A)
c.2128T>A (p.Tyr710Asn)
c.145T>A (p.Tyr49Asn)
c.204T>A
c.1402-7833T>A (n.1402-7833T>A)
c.2464T>A (p.Tyr822Asn)
c.2644T>A (p.Tyr882Asn)
c.2311T>A (p.Tyr771Asn)
7g.117594993T>CCA368983943CFTRc.2554T>C (p.Tyr852His)
c.*2268T>C (n.*2268T>C)
c.2371T>C (p.Tyr791His)
c.*854T>C (n.*854T>C)
c.*2378T>C (n.*2378T>C)
c.2128T>C (p.Tyr710His)
c.145T>C (p.Tyr49His)
c.204T>C
c.1402-7833T>C (n.1402-7833T>C)
c.2464T>C (p.Tyr822His)
c.2644T>C (p.Tyr882His)
c.2311T>C (p.Tyr771His)
7g.117594993T>GCA368983944CFTRc.2554T>G (p.Tyr852Asp)
c.*2268T>G (n.*2268T>G)
c.2371T>G (p.Tyr791Asp)
c.*854T>G (n.*854T>G)
c.*2378T>G (n.*2378T>G)
c.2128T>G (p.Tyr710Asp)
c.145T>G (p.Tyr49Asp)
c.204T>G
c.1402-7833T>G (n.1402-7833T>G)
c.2464T>G (p.Tyr822Asp)
c.2644T>G (p.Tyr882Asp)
c.2311T>G (p.Tyr771Asp)
7g.117594993dupCA16041133CFTRc.2554dup (p.Tyr852LeufsTer?)
c.*2268dup (n.*2268dup)
c.2371dup (p.Tyr791LeufsTer?)
c.*854dup (n.*854dup)
c.*2378dup (n.*2378dup)
c.2128dup (p.Tyr710LeufsTer?)
c.145dup (p.Tyr49LeufsTer?)
c.204dup
c.1402-7833dup (n.1402-7833dup)
c.2464dup (p.Tyr822LeufsTer?)
c.2644dup (p.Tyr882LeufsTer?)
c.2311dup (p.Tyr771LeufsTer?)
 ClinVar dbSNP gnomAD v3 gnomAD v4
7g.117594994delCA2580076590CFTRc.2555del (p.Tyr852LeufsTer8)
c.*2269del (n.*2269del)
c.2372del (p.Tyr791LeufsTer8)
c.*855del (n.*855del)
c.*2379del (n.*2379del)
c.2129del (p.Tyr710LeufsTer8)
c.146del (p.Tyr49LeufsTer8)
c.205del
c.1402-7832del (n.1402-7832del)
c.2465del (p.Tyr822LeufsTer8)
c.2645del (p.Tyr882LeufsTer8)
c.2312del (p.Tyr771LeufsTer8)
 ClinVar
7g.117594994A>CCA368983945CFTRc.2555A>C (p.Tyr852Ser)
c.*2269A>C (n.*2269A>C)
c.2372A>C (p.Tyr791Ser)
c.*855A>C (n.*855A>C)
c.*2379A>C (n.*2379A>C)
c.2129A>C (p.Tyr710Ser)
c.146A>C (p.Tyr49Ser)
c.205A>C
c.1402-7832A>C (n.1402-7832A>C)
c.2465A>C (p.Tyr822Ser)
c.2645A>C (p.Tyr882Ser)
c.2312A>C (p.Tyr771Ser)
7g.117594994A>GCA368983946CFTRc.2555A>G (p.Tyr852Cys)
c.*2269A>G (n.*2269A>G)
c.2372A>G (p.Tyr791Cys)
c.*855A>G (n.*855A>G)
c.*2379A>G (n.*2379A>G)
c.2129A>G (p.Tyr710Cys)
c.146A>G (p.Tyr49Cys)
c.205A>G
c.1402-7832A>G (n.1402-7832A>G)
c.2465A>G (p.Tyr822Cys)
c.2645A>G (p.Tyr882Cys)
c.2312A>G (p.Tyr771Cys)
7g.117594994A>TCA368983947CFTRc.2555A>T (p.Tyr852Phe)
c.*2269A>T (n.*2269A>T)
c.2372A>T (p.Tyr791Phe)
c.*855A>T (n.*855A>T)
c.*2379A>T (n.*2379A>T)
c.2129A>T (p.Tyr710Phe)
c.146A>T (p.Tyr49Phe)
c.205A>T
c.1402-7832A>T (n.1402-7832A>T)
c.2465A>T (p.Tyr822Phe)
c.2645A>T (p.Tyr882Phe)
c.2312A>T (p.Tyr771Phe)
7g.117594995T>ACA368983948CFTRc.2556T>A (p.Tyr852Ter)
c.*2270T>A (n.*2270T>A)
c.2373T>A (p.Tyr791Ter)
c.*856T>A (n.*856T>A)
c.*2380T>A (n.*2380T>A)
c.2130T>A (p.Tyr710Ter)
c.147T>A (p.Tyr49Ter)
c.206T>A
c.1402-7831T>A (n.1402-7831T>A)
c.2466T>A (p.Tyr822Ter)
c.2646T>A (p.Tyr882Ter)
c.2313T>A (p.Tyr771Ter)
7g.117594995T>CCA457227594CFTRc.2556T>C (p.Tyr852=)
c.*2270T>C (n.*2270T>C)
c.2373T>C (p.Tyr791=)
c.*856T>C (n.*856T>C)
c.*2380T>C (n.*2380T>C)
c.2130T>C (p.Tyr710=)
c.147T>C (p.Tyr49=)
c.206T>C
c.1402-7831T>C (n.1402-7831T>C)
c.2466T>C (p.Tyr822=)
c.2646T>C (p.Tyr882=)
c.2313T>C (p.Tyr771=)
 ClinVar gnomAD v4
7g.117594995T>GCA368983949CFTRc.2556T>G (p.Tyr852Ter)
c.*2270T>G (n.*2270T>G)
c.2373T>G (p.Tyr791Ter)
c.*856T>G (n.*856T>G)
c.*2380T>G (n.*2380T>G)
c.2130T>G (p.Tyr710Ter)
c.147T>G (p.Tyr49Ter)
c.206T>G
c.1402-7831T>G (n.1402-7831T>G)
c.2466T>G (p.Tyr822Ter)
c.2646T>G (p.Tyr882Ter)
c.2313T>G (p.Tyr771Ter)
 ClinVar dbSNP
7g.117594995T=CA1737397813CFTRc.2556T= (p.Tyr852=)
c.*2270T= (n.*2270T=)
c.2373T= (p.Tyr791=)
c.*856T= (n.*856T=)
c.*2380T= (n.*2380T=)
c.2130T= (p.Tyr710=)
c.147T= (p.Tyr49=)
c.206T=
c.1402-7831T= (n.1402-7831T=)
c.2466T= (p.Tyr822=)
c.2646T= (p.Tyr882=)
c.2313T= (p.Tyr771=)
7g.117594996A=CA1737397821CFTRc.2557A= (p.Ile853=)
c.*2271A= (n.*2271A=)
c.2374A= (p.Ile792=)
c.*857A= (n.*857A=)
c.*2381A= (n.*2381A=)
c.2131A= (p.Ile711=)
c.148A= (p.Ile50=)
c.207A=
c.1402-7830A= (n.1402-7830A=)
c.2467A= (p.Ile823=)
c.2647A= (p.Ile883=)
c.2314A= (p.Ile772=)
7g.117594996A>CCA368983950CFTRc.2557A>C (p.Ile853Leu)
c.*2271A>C (n.*2271A>C)
c.2374A>C (p.Ile792Leu)
c.*857A>C (n.*857A>C)
c.*2381A>C (n.*2381A>C)
c.2131A>C (p.Ile711Leu)
c.148A>C (p.Ile50Leu)
c.207A>C
c.1402-7830A>C (n.1402-7830A>C)
c.2467A>C (p.Ile823Leu)
c.2647A>C (p.Ile883Leu)
c.2314A>C (p.Ile772Leu)
7g.117594996A>GCA4451224CFTRc.2557A>G (p.Ile853Val)
c.*2271A>G (n.*2271A>G)
c.2374A>G (p.Ile792Val)
c.*857A>G (n.*857A>G)
c.*2381A>G (n.*2381A>G)
c.2131A>G (p.Ile711Val)
c.148A>G (p.Ile50Val)
c.207A>G
c.1402-7830A>G (n.1402-7830A>G)
c.2467A>G (p.Ile823Val)
c.2647A>G (p.Ile883Val)
c.2314A>G (p.Ile772Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117594996A>TCA4451223CFTRc.2557A>T (p.Ile853Phe)
c.*2271A>T (n.*2271A>T)
c.2374A>T (p.Ile792Phe)
c.*857A>T (n.*857A>T)
c.*2381A>T (n.*2381A>T)
c.2131A>T (p.Ile711Phe)
c.148A>T (p.Ile50Phe)
c.207A>T
c.1402-7830A>T (n.1402-7830A>T)
c.2467A>T (p.Ile823Phe)
c.2647A>T (p.Ile883Phe)
c.2314A>T (p.Ile772Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117594997T>ACA368983953CFTRc.2558T>A (p.Ile853Asn)
c.*2272T>A (n.*2272T>A)
c.2375T>A (p.Ile792Asn)
c.*858T>A (n.*858T>A)
c.*2382T>A (n.*2382T>A)
c.2132T>A (p.Ile711Asn)
c.149T>A (p.Ile50Asn)
c.208T>A
c.1402-7829T>A (n.1402-7829T>A)
c.2468T>A (p.Ile823Asn)
c.2648T>A (p.Ile883Asn)
c.2315T>A (p.Ile772Asn)
7g.117594997T>CCA368983952CFTRc.2558T>C (p.Ile853Thr)
c.*2272T>C (n.*2272T>C)
c.2375T>C (p.Ile792Thr)
c.*858T>C (n.*858T>C)
c.*2382T>C (n.*2382T>C)
c.2132T>C (p.Ile711Thr)
c.149T>C (p.Ile50Thr)
c.208T>C
c.1402-7829T>C (n.1402-7829T>C)
c.2468T>C (p.Ile823Thr)
c.2648T>C (p.Ile883Thr)
c.2315T>C (p.Ile772Thr)
 dbSNP
7g.117594997T>GCA368983951CFTRc.2558T>G (p.Ile853Ser)
c.*2272T>G (n.*2272T>G)
c.2375T>G (p.Ile792Ser)
c.*858T>G (n.*858T>G)
c.*2382T>G (n.*2382T>G)
c.2132T>G (p.Ile711Ser)
c.149T>G (p.Ile50Ser)
c.208T>G
c.1402-7829T>G (n.1402-7829T>G)
c.2468T>G (p.Ile823Ser)
c.2648T>G (p.Ile883Ser)
c.2315T>G (p.Ile772Ser)
7g.117594997T=CA1737397826CFTRc.2558T= (p.Ile853=)
c.*2272T= (n.*2272T=)
c.2375T= (p.Ile792=)
c.*858T= (n.*858T=)
c.*2382T= (n.*2382T=)
c.2132T= (p.Ile711=)
c.149T= (p.Ile50=)
c.208T=
c.1402-7829T= (n.1402-7829T=)
c.2468T= (p.Ile823=)
c.2648T= (p.Ile883=)
c.2315T= (p.Ile772=)
7g.117594998T>ACA457227596CFTRc.2559T>A (p.Ile853=)
c.*2273T>A (n.*2273T>A)
c.2376T>A (p.Ile792=)
c.*859T>A (n.*859T>A)
c.*2383T>A (n.*2383T>A)
c.2133T>A (p.Ile711=)
c.150T>A (p.Ile50=)
c.209T>A
c.1402-7828T>A (n.1402-7828T>A)
c.2469T>A (p.Ile823=)
c.2649T>A (p.Ile883=)
c.2316T>A (p.Ile772=)
7g.117594998T>CCA4451225CFTRc.2559T>C (p.Ile853=)
c.*2273T>C (n.*2273T>C)
c.2376T>C (p.Ile792=)
c.*859T>C (n.*859T>C)
c.*2383T>C (n.*2383T>C)
c.2133T>C (p.Ile711=)
c.150T>C (p.Ile50=)
c.209T>C
c.1402-7828T>C (n.1402-7828T>C)
c.2469T>C (p.Ile823=)
c.2649T>C (p.Ile883=)
c.2316T>C (p.Ile772=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117594998T>GCA368983954CFTRc.2559T>G (p.Ile853Met)
c.*2273T>G (n.*2273T>G)
c.2376T>G (p.Ile792Met)
c.*859T>G (n.*859T>G)
c.*2383T>G (n.*2383T>G)
c.2133T>G (p.Ile711Met)
c.150T>G (p.Ile50Met)
c.209T>G
c.1402-7828T>G (n.1402-7828T>G)
c.2469T>G (p.Ile823Met)
c.2649T>G (p.Ile883Met)
c.2316T>G (p.Ile772Met)
 gnomAD v4
7g.117594998T=CA1737397833CFTRc.2559T= (p.Ile853=)
c.*2273T= (n.*2273T=)
c.2376T= (p.Ile792=)
c.*859T= (n.*859T=)
c.*2383T= (n.*2383T=)
c.2133T= (p.Ile711=)
c.150T= (p.Ile50=)
c.209T=
c.1402-7828T= (n.1402-7828T=)
c.2469T= (p.Ile823=)
c.2649T= (p.Ile883=)
c.2316T= (p.Ile772=)
7g.117594999A=CA1737362686CFTRc.2560A= (p.Thr854=)
c.*2274A= (n.*2274A=)
c.2377A= (p.Thr793=)
c.*860A= (n.*860A=)
c.*2384A= (n.*2384A=)
c.2134A= (p.Thr712=)
c.151A= (p.Thr51=)
c.210A=
c.1402-7827A= (n.1402-7827A=)
c.2470A= (p.Thr824=)
c.2650A= (p.Thr884=)
c.2317A= (p.Thr773=)
7g.117594999A>CCA368983955CFTRc.2560A>C (p.Thr854Pro)
c.*2274A>C (n.*2274A>C)
c.2377A>C (p.Thr793Pro)
c.*860A>C (n.*860A>C)
c.*2384A>C (n.*2384A>C)
c.2134A>C (p.Thr712Pro)
c.151A>C (p.Thr51Pro)
c.210A>C
c.1402-7827A>C (n.1402-7827A>C)
c.2470A>C (p.Thr824Pro)
c.2650A>C (p.Thr884Pro)
c.2317A>C (p.Thr773Pro)
7g.117594999A>GCA368983956CFTRc.2560A>G (p.Thr854Ala)
c.*2274A>G (n.*2274A>G)
c.2377A>G (p.Thr793Ala)
c.*860A>G (n.*860A>G)
c.*2384A>G (n.*2384A>G)
c.2134A>G (p.Thr712Ala)
c.151A>G (p.Thr51Ala)
c.210A>G
c.1402-7827A>G (n.1402-7827A>G)
c.2470A>G (p.Thr824Ala)
c.2650A>G (p.Thr884Ala)
c.2317A>G (p.Thr773Ala)
 dbSNP
7g.117594999A>TCA368983957CFTRc.2560A>T (p.Thr854Ser)
c.*2274A>T (n.*2274A>T)
c.2377A>T (p.Thr793Ser)
c.*860A>T (n.*860A>T)
c.*2384A>T (n.*2384A>T)
c.2134A>T (p.Thr712Ser)
c.151A>T (p.Thr51Ser)
c.210A>T
c.1402-7827A>T (n.1402-7827A>T)
c.2470A>T (p.Thr824Ser)
c.2650A>T (p.Thr884Ser)
c.2317A>T (p.Thr773Ser)
7g.117594999dupCA2499218684CFTRc.2560dup (p.Thr854AsnfsTer?)
c.*2274dup (n.*2274dup)
c.2377dup (p.Thr793AsnfsTer?)
c.*860dup (n.*860dup)
c.*2384dup (n.*2384dup)
c.2134dup (p.Thr712AsnfsTer?)
c.151dup (p.Thr51AsnfsTer?)
c.210dup
c.1402-7827dup (n.1402-7827dup)
c.2470dup (p.Thr824AsnfsTer?)
c.2650dup (p.Thr884AsnfsTer?)
c.2317dup (p.Thr773AsnfsTer?)
 ClinVar dbSNP
7g.117595000C>ACA368983958CFTRc.2561C>A (p.Thr854Asn)
c.*2275C>A (n.*2275C>A)
c.2378C>A (p.Thr793Asn)
c.*861C>A (n.*861C>A)
c.*2385C>A (n.*2385C>A)
c.2135C>A (p.Thr712Asn)
c.152C>A (p.Thr51Asn)
c.211C>A
c.1402-7826C>A (n.1402-7826C>A)
c.2471C>A (p.Thr824Asn)
c.2651C>A (p.Thr884Asn)
c.2318C>A (p.Thr773Asn)
7g.117595000C=CA1737362689CFTRc.2561C= (p.Thr854=)
c.*2275C= (n.*2275C=)
c.2378C= (p.Thr793=)
c.*861C= (n.*861C=)
c.*2385C= (n.*2385C=)
c.2135C= (p.Thr712=)
c.152C= (p.Thr51=)
c.211C=
c.1402-7826C= (n.1402-7826C=)
c.2471C= (p.Thr824=)
c.2651C= (p.Thr884=)
c.2318C= (p.Thr773=)
7g.117595000C>GCA368983959CFTRc.2561C>G (p.Thr854Ser)
c.*2275C>G (n.*2275C>G)
c.2378C>G (p.Thr793Ser)
c.*861C>G (n.*861C>G)
c.*2385C>G (n.*2385C>G)
c.2135C>G (p.Thr712Ser)
c.152C>G (p.Thr51Ser)
c.211C>G
c.1402-7826C>G (n.1402-7826C>G)
c.2471C>G (p.Thr824Ser)
c.2651C>G (p.Thr884Ser)
c.2318C>G (p.Thr773Ser)
7g.117595000C>TCA4451226CFTRc.2561C>T (p.Thr854Ile)
c.*2275C>T (n.*2275C>T)
c.2378C>T (p.Thr793Ile)
c.*861C>T (n.*861C>T)
c.*2385C>T (n.*2385C>T)
c.2135C>T (p.Thr712Ile)
c.152C>T (p.Thr51Ile)
c.211C>T
c.1402-7826C>T (n.1402-7826C>T)
c.2471C>T (p.Thr824Ile)
c.2651C>T (p.Thr884Ile)
c.2318C>T (p.Thr773Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117595000_117595001delinsCTCA1737362688CFTRc.2561_2562delinsCT (p.Thr854=)
c.*2275_*2276delinsCT (n.*2275_*2276delinsCT)
c.2378_2379delinsCT (p.Thr793=)
c.*861_*862delinsCT (n.*861_*862delinsCT)
c.*2385_*2386delinsCT (n.*2385_*2386delinsCT)
c.2135_2136delinsCT (p.Thr712=)
c.152_153delinsCT (p.Thr51=)
c.211_212delinsCT
c.1402-7826_1402-7825delinsCT (n.1402-7826_1402-7825delinsCT)
c.2471_2472delinsCT (p.Thr824=)
c.2651_2652delinsCT (p.Thr884=)
c.2318_2319delinsCT (p.Thr773=)
7g.117595000_117595001delinsTGCA658797002CFTRc.2561_2562delinsTG (p.Thr854Met)
c.*2275_*2276delinsTG (n.*2275_*2276delinsTG)
c.2378_2379delinsTG (p.Thr793Met)
c.*861_*862delinsTG (n.*861_*862delinsTG)
c.*2385_*2386delinsTG (n.*2385_*2386delinsTG)
c.2135_2136delinsTG (p.Thr712Met)
c.152_153delinsTG (p.Thr51Met)
c.211_212delinsTG
c.1402-7826_1402-7825delinsTG (n.1402-7826_1402-7825delinsTG)
c.2471_2472delinsTG (p.Thr824Met)
c.2651_2652delinsTG (p.Thr884Met)
c.2318_2319delinsTG (p.Thr773Met)
 ClinVar dbSNP
7g.117595001delCA326847CFTRc.2562del (p.Val855SerfsTer5)
c.*2276del (n.*2276del)
c.2379del (p.Val794SerfsTer5)
c.*862del (n.*862del)
c.*2386del (n.*2386del)
c.2136del (p.Val713SerfsTer5)
c.153del (p.Val52SerfsTer5)
c.212del
c.1402-7825del (n.1402-7825del)
c.2472del (p.Val825SerfsTer5)
c.2652del (p.Val885SerfsTer5)
c.2319del (p.Val774SerfsTer5)
 dbSNP
7g.117595001T>ACA4451227CFTRc.2562T>A (p.Thr854=)
c.*2276T>A (n.*2276T>A)
c.2379T>A (p.Thr793=)
c.*862T>A (n.*862T>A)
c.*2386T>A (n.*2386T>A)
c.2136T>A (p.Thr712=)
c.153T>A (p.Thr51=)
c.212T>A
c.1402-7825T>A (n.1402-7825T>A)
c.2472T>A (p.Thr824=)
c.2652T>A (p.Thr884=)
c.2319T>A (p.Thr773=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117595001T>CCA457227599CFTRc.2562T>C (p.Thr854=)
c.*2276T>C (n.*2276T>C)
c.2379T>C (p.Thr793=)
c.*862T>C (n.*862T>C)
c.*2386T>C (n.*2386T>C)
c.2136T>C (p.Thr712=)
c.153T>C (p.Thr51=)
c.212T>C
c.1402-7825T>C (n.1402-7825T>C)
c.2472T>C (p.Thr824=)
c.2652T>C (p.Thr884=)
c.2319T>C (p.Thr773=)
7g.117595001T>GCA132752CFTRc.2562T>G (p.Thr854=)
c.*2276T>G (n.*2276T>G)
c.2379T>G (p.Thr793=)
c.*862T>G (n.*862T>G)
c.*2386T>G (n.*2386T>G)
c.2136T>G (p.Thr712=)
c.153T>G (p.Thr51=)
c.212T>G
c.1402-7825T>G (n.1402-7825T>G)
c.2472T>G (p.Thr824=)
c.2652T>G (p.Thr884=)
c.2319T>G (p.Thr773=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117595001T=CA1737362695CFTRc.2562T= (p.Thr854=)
c.*2276T= (n.*2276T=)
c.2379T= (p.Thr793=)
c.*862T= (n.*862T=)
c.*2386T= (n.*2386T=)
c.2136T= (p.Thr712=)
c.153T= (p.Thr51=)
c.212T=
c.1402-7825T= (n.1402-7825T=)
c.2472T= (p.Thr824=)
c.2652T= (p.Thr884=)
c.2319T= (p.Thr773=)
7g.117595001_117595002delinsGACA915945430CFTRc.2562_2563delinsGA (p.Val855Ile)
c.*2276_*2277delinsGA (n.*2276_*2277delinsGA)
c.2379_2380delinsGA (p.Val794Ile)
c.*862_*863delinsGA (n.*862_*863delinsGA)
c.*2386_*2387delinsGA (n.*2386_*2387delinsGA)
c.2136_2137delinsGA (p.Val713Ile)
c.153_154delinsGA (p.Val52Ile)
c.212_213delinsGA
c.1402-7825_1402-7824delinsGA (n.1402-7825_1402-7824delinsGA)
c.2472_2473delinsGA (p.Val825Ile)
c.2652_2653delinsGA (p.Val885Ile)
c.2319_2320delinsGA (p.Val774Ile)
 ClinVar dbSNP
7g.117595001_117595002delinsTGCA1737362692CFTRc.2562_2563delinsTG (p.Thr854=)
c.*2276_*2277delinsTG (n.*2276_*2277delinsTG)
c.2379_2380delinsTG (p.Thr793=)
c.*862_*863delinsTG (n.*862_*863delinsTG)
c.*2386_*2387delinsTG (n.*2386_*2387delinsTG)
c.2136_2137delinsTG (p.Thr712=)
c.153_154delinsTG (p.Thr51=)
c.212_213delinsTG
c.1402-7825_1402-7824delinsTG (n.1402-7825_1402-7824delinsTG)
c.2472_2473delinsTG (p.Thr824=)
c.2652_2653delinsTG (p.Thr884=)
c.2319_2320delinsTG (p.Thr773=)
7g.117595002G>ACA326848CFTRc.2563G>A (p.Val855Ile)
c.*2277G>A (n.*2277G>A)
c.2380G>A (p.Val794Ile)
c.*863G>A (n.*863G>A)
c.*2387G>A (n.*2387G>A)
c.2137G>A (p.Val713Ile)
c.154G>A (p.Val52Ile)
c.213G>A
c.1402-7824G>A (n.1402-7824G>A)
c.2473G>A (p.Val825Ile)
c.2653G>A (p.Val885Ile)
c.2320G>A (p.Val774Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117595002G>CCA368983961CFTRc.2563G>C (p.Val855Leu)
c.*2277G>C (n.*2277G>C)
c.2380G>C (p.Val794Leu)
c.*863G>C (n.*863G>C)
c.*2387G>C (n.*2387G>C)
c.2137G>C (p.Val713Leu)
c.154G>C (p.Val52Leu)
c.213G>C
c.1402-7824G>C (n.1402-7824G>C)
c.2473G>C (p.Val825Leu)
c.2653G>C (p.Val885Leu)
c.2320G>C (p.Val774Leu)
7g.117595002G=CA1737362703CFTRc.2563G= (p.Val855=)
c.*2277G= (n.*2277G=)
c.2380G= (p.Val794=)
c.*863G= (n.*863G=)
c.*2387G= (n.*2387G=)
c.2137G= (p.Val713=)
c.154G= (p.Val52=)
c.213G=
c.1402-7824G= (n.1402-7824G=)
c.2473G= (p.Val825=)
c.2653G= (p.Val885=)
c.2320G= (p.Val774=)
7g.117595002G>TCA368983960CFTRc.2563G>T (p.Val855Phe)
c.*2277G>T (n.*2277G>T)
c.2380G>T (p.Val794Phe)
c.*863G>T (n.*863G>T)
c.*2387G>T (n.*2387G>T)
c.2137G>T (p.Val713Phe)
c.154G>T (p.Val52Phe)
c.213G>T
c.1402-7824G>T (n.1402-7824G>T)
c.2473G>T (p.Val825Phe)
c.2653G>T (p.Val885Phe)
c.2320G>T (p.Val774Phe)
 COSMIC
7g.117595003T>ACA368983962CFTRc.2564T>A (p.Val855Asp)
c.*2278T>A (n.*2278T>A)
c.2381T>A (p.Val794Asp)
c.*864T>A (n.*864T>A)
c.*2388T>A (n.*2388T>A)
c.2138T>A (p.Val713Asp)
c.155T>A (p.Val52Asp)
c.214T>A
c.1402-7823T>A (n.1402-7823T>A)
c.2474T>A (p.Val825Asp)
c.2654T>A (p.Val885Asp)
c.2321T>A (p.Val774Asp)
7g.117595003T>CCA368983963CFTRc.2564T>C (p.Val855Ala)
c.*2278T>C (n.*2278T>C)
c.2381T>C (p.Val794Ala)
c.*864T>C (n.*864T>C)
c.*2388T>C (n.*2388T>C)
c.2138T>C (p.Val713Ala)
c.155T>C (p.Val52Ala)
c.214T>C
c.1402-7823T>C (n.1402-7823T>C)
c.2474T>C (p.Val825Ala)
c.2654T>C (p.Val885Ala)
c.2321T>C (p.Val774Ala)
 COSMIC
7g.117595003T>GCA368983964CFTRc.2564T>G (p.Val855Gly)
c.*2278T>G (n.*2278T>G)
c.2381T>G (p.Val794Gly)
c.*864T>G (n.*864T>G)
c.*2388T>G (n.*2388T>G)
c.2138T>G (p.Val713Gly)
c.155T>G (p.Val52Gly)
c.214T>G
c.1402-7823T>G (n.1402-7823T>G)
c.2474T>G (p.Val825Gly)
c.2654T>G (p.Val885Gly)
c.2321T>G (p.Val774Gly)
7g.117595004C>ACA457227601CFTRc.2565C>A (p.Val855=)
c.*2279C>A (n.*2279C>A)
c.2382C>A (p.Val794=)
c.*865C>A (n.*865C>A)
c.*2389C>A (n.*2389C>A)
c.2139C>A (p.Val713=)
c.156C>A (p.Val52=)
c.215C>A
c.1402-7822C>A (n.1402-7822C>A)
c.2475C>A (p.Val825=)
c.2655C>A (p.Val885=)
c.2322C>A (p.Val774=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.117595004C=CA1737362707CFTRc.2565C= (p.Val855=)
c.*2279C= (n.*2279C=)
c.2382C= (p.Val794=)
c.*865C= (n.*865C=)
c.*2389C= (n.*2389C=)
c.2139C= (p.Val713=)
c.156C= (p.Val52=)
c.215C=
c.1402-7822C= (n.1402-7822C=)
c.2475C= (p.Val825=)
c.2655C= (p.Val885=)
c.2322C= (p.Val774=)
7g.117595004C>GCA457227602CFTRc.2565C>G (p.Val855=)
c.*2279C>G (n.*2279C>G)
c.2382C>G (p.Val794=)
c.*865C>G (n.*865C>G)
c.*2389C>G (n.*2389C>G)
c.2139C>G (p.Val713=)
c.156C>G (p.Val52=)
c.215C>G
c.1402-7822C>G (n.1402-7822C>G)
c.2475C>G (p.Val825=)
c.2655C>G (p.Val885=)
c.2322C>G (p.Val774=)
 ClinVar dbSNP
7g.117595004C>TCA457227603CFTRc.2565C>T (p.Val855=)
c.*2279C>T (n.*2279C>T)
c.2382C>T (p.Val794=)
c.*865C>T (n.*865C>T)
c.*2389C>T (n.*2389C>T)
c.2139C>T (p.Val713=)
c.156C>T (p.Val52=)
c.215C>T
c.1402-7822C>T (n.1402-7822C>T)
c.2475C>T (p.Val825=)
c.2655C>T (p.Val885=)
c.2322C>T (p.Val774=)
7g.117595005C>ACA368983965CFTRc.2566C>A (p.His856Asn)
c.*2280C>A (n.*2280C>A)
c.2383C>A (p.His795Asn)
c.*866C>A (n.*866C>A)
c.*2390C>A (n.*2390C>A)
c.2140C>A (p.His714Asn)
c.157C>A (p.His53Asn)
c.216C>A
c.1402-7821C>A (n.1402-7821C>A)
c.2476C>A (p.His826Asn)
c.2656C>A (p.His886Asn)
c.2323C>A (p.His775Asn)
7g.117595005C>GCA368983966CFTRc.2566C>G (p.His856Asp)
c.*2280C>G (n.*2280C>G)
c.2383C>G (p.His795Asp)
c.*866C>G (n.*866C>G)
c.*2390C>G (n.*2390C>G)
c.2140C>G (p.His714Asp)
c.157C>G (p.His53Asp)
c.216C>G
c.1402-7821C>G (n.1402-7821C>G)
c.2476C>G (p.His826Asp)
c.2656C>G (p.His886Asp)
c.2323C>G (p.His775Asp)
7g.117595005C>TCA368983967CFTRc.2566C>T (p.His856Tyr)
c.*2280C>T (n.*2280C>T)
c.2383C>T (p.His795Tyr)
c.*866C>T (n.*866C>T)
c.*2390C>T (n.*2390C>T)
c.2140C>T (p.His714Tyr)
c.157C>T (p.His53Tyr)
c.216C>T
c.1402-7821C>T (n.1402-7821C>T)
c.2476C>T (p.His826Tyr)
c.2656C>T (p.His886Tyr)
c.2323C>T (p.His775Tyr)
 gnomAD v4
7g.117595005_117595006insTACCA4451228CFTRc.2566_2567insTAC (p.Val855_His856insLeu)
c.*2280_*2281insTAC (n.*2280_*2281insTAC)
c.2383_2384insTAC (p.Val794_His795insLeu)
c.*866_*867insTAC (n.*866_*867insTAC)
c.*2390_*2391insTAC (n.*2390_*2391insTAC)
c.2140_2141insTAC (p.Val713_His714insLeu)
c.157_158insTAC (p.Val52_His53insLeu)
c.216_217insTAC
c.1402-7821_1402-7820insTAC (n.1402-7821_1402-7820insTAC)
c.2476_2477insTAC (p.Val825_His826insLeu)
c.2656_2657insTAC (p.Val885_His886insLeu)
c.2323_2324insTAC (p.Val774_His775insLeu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.117595006A>CCA368983968CFTRc.2567A>C (p.His856Pro)
c.*2281A>C (n.*2281A>C)
c.2384A>C (p.His795Pro)
c.*867A>C (n.*867A>C)
c.*2391A>C (n.*2391A>C)
c.2141A>C (p.His714Pro)
c.158A>C (p.His53Pro)
c.217A>C
c.1402-7820A>C (n.1402-7820A>C)
c.2477A>C (p.His826Pro)
c.2657A>C (p.His886Pro)
c.2324A>C (p.His775Pro)
7g.117595006A>GCA368983969CFTRc.2567A>G (p.His856Arg)
c.*2281A>G (n.*2281A>G)
c.2384A>G (p.His795Arg)
c.*867A>G (n.*867A>G)
c.*2391A>G (n.*2391A>G)
c.2141A>G (p.His714Arg)
c.158A>G (p.His53Arg)
c.217A>G
c.1402-7820A>G (n.1402-7820A>G)
c.2477A>G (p.His826Arg)
c.2657A>G (p.His886Arg)
c.2324A>G (p.His775Arg)
7g.117595006A>TCA368983970CFTRc.2567A>T (p.His856Leu)
c.*2281A>T (n.*2281A>T)
c.2384A>T (p.His795Leu)
c.*867A>T (n.*867A>T)
c.*2391A>T (n.*2391A>T)
c.2141A>T (p.His714Leu)
c.158A>T (p.His53Leu)
c.217A>T
c.1402-7820A>T (n.1402-7820A>T)
c.2477A>T (p.His826Leu)
c.2657A>T (p.His886Leu)
c.2324A>T (p.His775Leu)
7g.117595007C>ACA368983971CFTRc.2568C>A (p.His856Gln)
c.*2282C>A (n.*2282C>A)
c.2385C>A (p.His795Gln)
c.*868C>A (n.*868C>A)
c.*2392C>A (n.*2392C>A)
c.2142C>A (p.His714Gln)
c.159C>A (p.His53Gln)
c.218C>A
c.1402-7819C>A (n.1402-7819C>A)
c.2478C>A (p.His826Gln)
c.2658C>A (p.His886Gln)
c.2325C>A (p.His775Gln)
7g.117595007C=CA1737362715CFTRc.2568C= (p.His856=)
c.*2282C= (n.*2282C=)
c.2385C= (p.His795=)
c.*868C= (n.*868C=)
c.*2392C= (n.*2392C=)
c.2142C= (p.His714=)
c.159C= (p.His53=)
c.218C=
c.1402-7819C= (n.1402-7819C=)
c.2478C= (p.His826=)
c.2658C= (p.His886=)
c.2325C= (p.His775=)
7g.117595007C>GCA368983972CFTRc.2568C>G (p.His856Gln)
c.*2282C>G (n.*2282C>G)
c.2385C>G (p.His795Gln)
c.*868C>G (n.*868C>G)
c.*2392C>G (n.*2392C>G)
c.2142C>G (p.His714Gln)
c.159C>G (p.His53Gln)
c.218C>G
c.1402-7819C>G (n.1402-7819C>G)
c.2478C>G (p.His826Gln)
c.2658C>G (p.His886Gln)
c.2325C>G (p.His775Gln)
7g.117595007C>TCA4451229CFTRc.2568C>T (p.His856=)
c.*2282C>T (n.*2282C>T)
c.2385C>T (p.His795=)
c.*868C>T (n.*868C>T)
c.*2392C>T (n.*2392C>T)
c.2142C>T (p.His714=)
c.159C>T (p.His53=)
c.218C>T
c.1402-7819C>T (n.1402-7819C>T)
c.2478C>T (p.His826=)
c.2658C>T (p.His886=)
c.2325C>T (p.His775=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117595008A>CCA368983974CFTRc.2569A>C (p.Lys857Gln)
c.*2283A>C (n.*2283A>C)
c.2386A>C (p.Lys796Gln)
c.*869A>C (n.*869A>C)
c.*2393A>C (n.*2393A>C)
c.2143A>C (p.Lys715Gln)
c.160A>C (p.Lys54Gln)
c.219A>C
c.1402-7818A>C (n.1402-7818A>C)
c.2479A>C (p.Lys827Gln)
c.2659A>C (p.Lys887Gln)
c.2326A>C (p.Lys776Gln)
7g.117595008A>GCA368983975CFTRc.2569A>G (p.Lys857Glu)
c.*2283A>G (n.*2283A>G)
c.2386A>G (p.Lys796Glu)
c.*869A>G (n.*869A>G)
c.*2393A>G (n.*2393A>G)
c.2143A>G (p.Lys715Glu)
c.160A>G (p.Lys54Glu)
c.219A>G
c.1402-7818A>G (n.1402-7818A>G)
c.2479A>G (p.Lys827Glu)
c.2659A>G (p.Lys887Glu)
c.2326A>G (p.Lys776Glu)
 gnomAD v4
7g.117595008A>TCA368983973CFTRc.2569A>T (p.Lys857Ter)
c.*2283A>T (n.*2283A>T)
c.2386A>T (p.Lys796Ter)
c.*869A>T (n.*869A>T)
c.*2393A>T (n.*2393A>T)
c.2143A>T (p.Lys715Ter)
c.160A>T (p.Lys54Ter)
c.219A>T
c.1402-7818A>T (n.1402-7818A>T)
c.2479A>T (p.Lys827Ter)
c.2659A>T (p.Lys887Ter)
c.2326A>T (p.Lys776Ter)
7g.117595009A=CA1737362720CFTRc.2570A= (p.Lys857=)
c.*2284A= (n.*2284A=)
c.2387A= (p.Lys796=)
c.*870A= (n.*870A=)
c.*2394A= (n.*2394A=)
c.2144A= (p.Lys715=)
c.161A= (p.Lys54=)
c.220A=
c.1402-7817A= (n.1402-7817A=)
c.2480A= (p.Lys827=)
c.2660A= (p.Lys887=)
c.2327A= (p.Lys776=)
7g.117595009A>CCA368983978CFTRc.2570A>C (p.Lys857Thr)
c.*2284A>C (n.*2284A>C)
c.2387A>C (p.Lys796Thr)
c.*870A>C (n.*870A>C)
c.*2394A>C (n.*2394A>C)
c.2144A>C (p.Lys715Thr)
c.161A>C (p.Lys54Thr)
c.220A>C
c.1402-7817A>C (n.1402-7817A>C)
c.2480A>C (p.Lys827Thr)
c.2660A>C (p.Lys887Thr)
c.2327A>C (p.Lys776Thr)
7g.117595009A>GCA368983976CFTRc.2570A>G (p.Lys857Arg)
c.*2284A>G (n.*2284A>G)
c.2387A>G (p.Lys796Arg)
c.*870A>G (n.*870A>G)
c.*2394A>G (n.*2394A>G)
c.2144A>G (p.Lys715Arg)
c.161A>G (p.Lys54Arg)
c.220A>G
c.1402-7817A>G (n.1402-7817A>G)
c.2480A>G (p.Lys827Arg)
c.2660A>G (p.Lys887Arg)
c.2327A>G (p.Lys776Arg)
 ClinVar dbSNP gnomAD v4
7g.117595009A>TCA368983977CFTRc.2570A>T (p.Lys857Met)
c.*2284A>T (n.*2284A>T)
c.2387A>T (p.Lys796Met)
c.*870A>T (n.*870A>T)
c.*2394A>T (n.*2394A>T)
c.2144A>T (p.Lys715Met)
c.161A>T (p.Lys54Met)
c.220A>T
c.1402-7817A>T (n.1402-7817A>T)
c.2480A>T (p.Lys827Met)
c.2660A>T (p.Lys887Met)
c.2327A>T (p.Lys776Met)
7g.117595010G>ACA326850CFTRc.2571G>A (p.Lys857=)
c.*2285G>A (n.*2285G>A)
c.2388G>A (p.Lys796=)
c.*871G>A (n.*871G>A)
c.*2395G>A (n.*2395G>A)
c.2145G>A (p.Lys715=)
c.162G>A (p.Lys54=)
c.221G>A
c.1402-7816G>A (n.1402-7816G>A)
c.2481G>A (p.Lys827=)
c.2661G>A (p.Lys887=)
c.2328G>A (p.Lys776=)
 ClinVar dbSNP gnomAD v4
7g.117595010G>CCA4451230CFTRc.2571G>C (p.Lys857Asn)
c.*2285G>C (n.*2285G>C)
c.2388G>C (p.Lys796Asn)
c.*871G>C (n.*871G>C)
c.*2395G>C (n.*2395G>C)
c.2145G>C (p.Lys715Asn)
c.162G>C (p.Lys54Asn)
c.221G>C
c.1402-7816G>C (n.1402-7816G>C)
c.2481G>C (p.Lys827Asn)
c.2661G>C (p.Lys887Asn)
c.2328G>C (p.Lys776Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117595010G=CA1737362728CFTRc.2571G= (p.Lys857=)
c.*2285G= (n.*2285G=)
c.2388G= (p.Lys796=)
c.*871G= (n.*871G=)
c.*2395G= (n.*2395G=)
c.2145G= (p.Lys715=)
c.162G= (p.Lys54=)
c.221G=
c.1402-7816G= (n.1402-7816G=)
c.2481G= (p.Lys827=)
c.2661G= (p.Lys887=)
c.2328G= (p.Lys776=)
7g.117595010G>TCA368983979CFTRc.2571G>T (p.Lys857Asn)
c.*2285G>T (n.*2285G>T)
c.2388G>T (p.Lys796Asn)
c.*871G>T (n.*871G>T)
c.*2395G>T (n.*2395G>T)
c.2145G>T (p.Lys715Asn)
c.162G>T (p.Lys54Asn)
c.221G>T
c.1402-7816G>T (n.1402-7816G>T)
c.2481G>T (p.Lys827Asn)
c.2661G>T (p.Lys887Asn)
c.2328G>T (p.Lys776Asn)
7g.117595011A>CCA368983980CFTRc.2572A>C (p.Ser858Arg)
c.*2286A>C (n.*2286A>C)
c.2389A>C (p.Ser797Arg)
c.*872A>C (n.*872A>C)
c.*2396A>C (n.*2396A>C)
c.2146A>C (p.Ser716Arg)
c.163A>C (p.Ser55Arg)
c.222A>C
c.1402-7815A>C (n.1402-7815A>C)
c.2482A>C (p.Ser828Arg)
c.2662A>C (p.Ser888Arg)
c.2329A>C (p.Ser777Arg)
7g.117595011A>GCA368983981CFTRc.2572A>G (p.Ser858Gly)
c.*2286A>G (n.*2286A>G)
c.2389A>G (p.Ser797Gly)
c.*872A>G (n.*872A>G)
c.*2396A>G (n.*2396A>G)
c.2146A>G (p.Ser716Gly)
c.163A>G (p.Ser55Gly)
c.222A>G
c.1402-7815A>G (n.1402-7815A>G)
c.2482A>G (p.Ser828Gly)
c.2662A>G (p.Ser888Gly)
c.2329A>G (p.Ser777Gly)
 gnomAD v4
7g.117595011A>TCA368983982CFTRc.2572A>T (p.Ser858Cys)
c.*2286A>T (n.*2286A>T)
c.2389A>T (p.Ser797Cys)
c.*872A>T (n.*872A>T)
c.*2396A>T (n.*2396A>T)
c.2146A>T (p.Ser716Cys)
c.163A>T (p.Ser55Cys)
c.222A>T
c.1402-7815A>T (n.1402-7815A>T)
c.2482A>T (p.Ser828Cys)
c.2662A>T (p.Ser888Cys)
c.2329A>T (p.Ser777Cys)
7g.117595011_117595012delinsAGCA1737362731CFTRc.2572_2573delinsAG (p.Ser858=)
c.*2286_*2287delinsAG (n.*2286_*2287delinsAG)
c.2389_2390delinsAG (p.Ser797=)
c.*872_*873delinsAG (n.*872_*873delinsAG)
c.*2396_*2397delinsAG (n.*2396_*2397delinsAG)
c.2146_2147delinsAG (p.Ser716=)
c.163_164delinsAG (p.Ser55=)
c.222_223delinsAG
c.1402-7815_1402-7814delinsAG (n.1402-7815_1402-7814delinsAG)
c.2482_2483delinsAG (p.Ser828=)
c.2662_2663delinsAG (p.Ser888=)
c.2329_2330delinsAG (p.Ser777=)
7g.117595012delCA913190197CFTRc.2573del (p.Ser858ThrfsTer2)
c.*2287del (n.*2287del)
c.2390del (p.Ser797ThrfsTer2)
c.*873del (n.*873del)
c.*2397del (n.*2397del)
c.2147del (p.Ser716ThrfsTer2)
c.164del (p.Ser55ThrfsTer2)
c.223del
c.1402-7814del (n.1402-7814del)
c.2483del (p.Ser828ThrfsTer2)
c.2663del (p.Ser888ThrfsTer2)
c.2330del (p.Ser777ThrfsTer2)
 ClinVar dbSNP
7g.117595012G>ACA368983983CFTRc.2573G>A (p.Ser858Asn)
c.*2287G>A (n.*2287G>A)
c.2390G>A (p.Ser797Asn)
c.*873G>A (n.*873G>A)
c.*2397G>A (n.*2397G>A)
c.2147G>A (p.Ser716Asn)
c.164G>A (p.Ser55Asn)
c.223G>A
c.1402-7814G>A (n.1402-7814G>A)
c.2483G>A (p.Ser828Asn)
c.2663G>A (p.Ser888Asn)
c.2330G>A (p.Ser777Asn)
 ClinVar dbSNP gnomAD v4
7g.117595012G>CCA368983984CFTRc.2573G>C (p.Ser858Thr)
c.*2287G>C (n.*2287G>C)
c.2390G>C (p.Ser797Thr)
c.*873G>C (n.*873G>C)
c.*2397G>C (n.*2397G>C)
c.2147G>C (p.Ser716Thr)
c.164G>C (p.Ser55Thr)
c.223G>C
c.1402-7814G>C (n.1402-7814G>C)
c.2483G>C (p.Ser828Thr)
c.2663G>C (p.Ser888Thr)
c.2330G>C (p.Ser777Thr)
7g.117595012G>TCA368983985CFTRc.2573G>T (p.Ser858Ile)
c.*2287G>T (n.*2287G>T)
c.2390G>T (p.Ser797Ile)
c.*873G>T (n.*873G>T)
c.*2397G>T (n.*2397G>T)
c.2147G>T (p.Ser716Ile)
c.164G>T (p.Ser55Ile)
c.223G>T
c.1402-7814G>T (n.1402-7814G>T)
c.2483G>T (p.Ser828Ile)
c.2663G>T (p.Ser888Ile)
c.2330G>T (p.Ser777Ile)
7g.117595013C>ACA368983986CFTRc.2574C>A (p.Ser858Arg)
c.*2288C>A (n.*2288C>A)
c.2391C>A (p.Ser797Arg)
c.*874C>A (n.*874C>A)
c.*2398C>A (n.*2398C>A)
c.2148C>A (p.Ser716Arg)
c.165C>A (p.Ser55Arg)
c.224C>A
c.1402-7813C>A (n.1402-7813C>A)
c.2484C>A (p.Ser828Arg)
c.2664C>A (p.Ser888Arg)
c.2331C>A (p.Ser777Arg)
7g.117595013C>GCA368983987CFTRc.2574C>G (p.Ser858Arg)
c.*2288C>G (n.*2288C>G)
c.2391C>G (p.Ser797Arg)
c.*874C>G (n.*874C>G)
c.*2398C>G (n.*2398C>G)
c.2148C>G (p.Ser716Arg)
c.165C>G (p.Ser55Arg)
c.224C>G
c.1402-7813C>G (n.1402-7813C>G)
c.2484C>G (p.Ser828Arg)
c.2664C>G (p.Ser888Arg)
c.2331C>G (p.Ser777Arg)
7g.117595013C>TCA457227607CFTRc.2574C>T (p.Ser858=)
c.*2288C>T (n.*2288C>T)
c.2391C>T (p.Ser797=)
c.*874C>T (n.*874C>T)
c.*2398C>T (n.*2398C>T)
c.2148C>T (p.Ser716=)
c.165C>T (p.Ser55=)
c.224C>T
c.1402-7813C>T (n.1402-7813C>T)
c.2484C>T (p.Ser828=)
c.2664C>T (p.Ser888=)
c.2331C>T (p.Ser777=)
 ClinVar dbSNP
7g.117595014T>ACA368983989CFTRc.2575T>A (p.Leu859Ile)
c.*2289T>A (n.*2289T>A)
c.2392T>A (p.Leu798Ile)
c.*875T>A (n.*875T>A)
c.*2399T>A (n.*2399T>A)
c.2149T>A (p.Leu717Ile)
c.166T>A (p.Leu56Ile)
c.225T>A
c.1402-7812T>A (n.1402-7812T>A)
c.2485T>A (p.Leu829Ile)
c.2665T>A (p.Leu889Ile)
c.2332T>A (p.Leu778Ile)
7g.117595014T>CCA457227609CFTRc.2575T>C (p.Leu859=)
c.*2289T>C (n.*2289T>C)
c.2392T>C (p.Leu798=)
c.*875T>C (n.*875T>C)
c.*2399T>C (n.*2399T>C)
c.2149T>C (p.Leu717=)
c.166T>C (p.Leu56=)
c.225T>C
c.1402-7812T>C (n.1402-7812T>C)
c.2485T>C (p.Leu829=)
c.2665T>C (p.Leu889=)
c.2332T>C (p.Leu778=)
7g.117595014T>GCA368983988CFTRc.2575T>G (p.Leu859Val)
c.*2289T>G (n.*2289T>G)
c.2392T>G (p.Leu798Val)
c.*875T>G (n.*875T>G)
c.*2399T>G (n.*2399T>G)
c.2149T>G (p.Leu717Val)
c.166T>G (p.Leu56Val)
c.225T>G
c.1402-7812T>G (n.1402-7812T>G)
c.2485T>G (p.Leu829Val)
c.2665T>G (p.Leu889Val)
c.2332T>G (p.Leu778Val)
7g.117595015T>ACA368983990CFTRc.2576T>A (p.Leu859Ter)
c.*2290T>A (n.*2290T>A)
c.2393T>A (p.Leu798Ter)
c.*876T>A (n.*876T>A)
c.*2400T>A (n.*2400T>A)
c.2150T>A (p.Leu717Ter)
c.167T>A (p.Leu56Ter)
c.226T>A
c.1402-7811T>A (n.1402-7811T>A)
c.2486T>A (p.Leu829Ter)
c.2666T>A (p.Leu889Ter)
c.2333T>A (p.Leu778Ter)
7g.117595015T>CCA368983991CFTRc.2576T>C (p.Leu859Ser)
c.*2290T>C (n.*2290T>C)
c.2393T>C (p.Leu798Ser)
c.*876T>C (n.*876T>C)
c.*2400T>C (n.*2400T>C)
c.2150T>C (p.Leu717Ser)
c.167T>C (p.Leu56Ser)
c.226T>C
c.1402-7811T>C (n.1402-7811T>C)
c.2486T>C (p.Leu829Ser)
c.2666T>C (p.Leu889Ser)
c.2333T>C (p.Leu778Ser)
7g.117595015T>GCA368983992CFTRc.2576T>G (p.Leu859Ter)
c.*2290T>G (n.*2290T>G)
c.2393T>G (p.Leu798Ter)
c.*876T>G (n.*876T>G)
c.*2400T>G (n.*2400T>G)
c.2150T>G (p.Leu717Ter)
c.167T>G (p.Leu56Ter)
c.226T>G
c.1402-7811T>G (n.1402-7811T>G)
c.2486T>G (p.Leu829Ter)
c.2666T>G (p.Leu889Ter)
c.2333T>G (p.Leu778Ter)
7g.117595016A=CA1737362738CFTRc.2577A= (p.Leu859=)
c.*2291A= (n.*2291A=)
c.2394A= (p.Leu798=)
c.*877A= (n.*877A=)
c.*2401A= (n.*2401A=)
c.2151A= (p.Leu717=)
c.168A= (p.Leu56=)
c.227A=
c.1402-7810A= (n.1402-7810A=)
c.2487A= (p.Leu829=)
c.2667A= (p.Leu889=)
c.2334A= (p.Leu778=)
7g.117595016A>CCA4451231CFTRc.2577A>C (p.Leu859Phe)
c.*2291A>C (n.*2291A>C)
c.2394A>C (p.Leu798Phe)
c.*877A>C (n.*877A>C)
c.*2401A>C (n.*2401A>C)
c.2151A>C (p.Leu717Phe)
c.168A>C (p.Leu56Phe)
c.227A>C
c.1402-7810A>C (n.1402-7810A>C)
c.2487A>C (p.Leu829Phe)
c.2667A>C (p.Leu889Phe)
c.2334A>C (p.Leu778Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.117595016A>GCA457227613CFTRc.2577A>G (p.Leu859=)
c.*2291A>G (n.*2291A>G)
c.2394A>G (p.Leu798=)
c.*877A>G (n.*877A>G)
c.*2401A>G (n.*2401A>G)
c.2151A>G (p.Leu717=)
c.168A>G (p.Leu56=)
c.227A>G
c.1402-7810A>G (n.1402-7810A>G)
c.2487A>G (p.Leu829=)
c.2667A>G (p.Leu889=)
c.2334A>G (p.Leu778=)
 dbSNP gnomAD v2 gnomAD v4
7g.117595016A>TCA368983993CFTRc.2577A>T (p.Leu859Phe)
c.*2291A>T (n.*2291A>T)
c.2394A>T (p.Leu798Phe)
c.*877A>T (n.*877A>T)
c.*2401A>T (n.*2401A>T)
c.2151A>T (p.Leu717Phe)
c.168A>T (p.Leu56Phe)
c.227A>T
c.1402-7810A>T (n.1402-7810A>T)
c.2487A>T (p.Leu829Phe)
c.2667A>T (p.Leu889Phe)
c.2334A>T (p.Leu778Phe)
7g.117595017A>CCA368983994CFTRc.2578A>C (p.Ile860Leu)
c.*2292A>C (n.*2292A>C)
c.2395A>C (p.Ile799Leu)
c.*878A>C (n.*878A>C)
c.*2402A>C (n.*2402A>C)
c.2152A>C (p.Ile718Leu)
c.169A>C (p.Ile57Leu)
c.228A>C
c.1402-7809A>C (n.1402-7809A>C)
c.2488A>C (p.Ile830Leu)
c.2668A>C (p.Ile890Leu)
c.2335A>C (p.Ile779Leu)
 COSMIC
7g.117595017A>GCA368983995CFTRc.2578A>G (p.Ile860Val)
c.*2292A>G (n.*2292A>G)
c.2395A>G (p.Ile799Val)
c.*878A>G (n.*878A>G)
c.*2402A>G (n.*2402A>G)
c.2152A>G (p.Ile718Val)
c.169A>G (p.Ile57Val)
c.228A>G
c.1402-7809A>G (n.1402-7809A>G)
c.2488A>G (p.Ile830Val)
c.2668A>G (p.Ile890Val)
c.2335A>G (p.Ile779Val)
 ClinVar
7g.117595017A>TCA368983996CFTRc.2578A>T (p.Ile860Phe)
c.*2292A>T (n.*2292A>T)
c.2395A>T (p.Ile799Phe)
c.*878A>T (n.*878A>T)
c.*2402A>T (n.*2402A>T)
c.2152A>T (p.Ile718Phe)
c.169A>T (p.Ile57Phe)
c.228A>T
c.1402-7809A>T (n.1402-7809A>T)
c.2488A>T (p.Ile830Phe)
c.2668A>T (p.Ile890Phe)
c.2335A>T (p.Ile779Phe)
7g.117595017_117595018delinsATCA1737362741CFTRc.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=)
7g.117595017_117595018insGCA2514512930CFTRc.2578_2579insG (p.Ile860SerfsTer?)
c.*2292_*2293insG (n.*2292_*2293insG)
c.2395_2396insG (p.Ile799SerfsTer?)
c.*878_*879insG (n.*878_*879insG)
c.*2402_*2403insG (n.*2402_*2403insG)
c.2152_2153insG (p.Ile718SerfsTer?)
c.169_170insG (p.Ile57SerfsTer?)
c.228_229insG
c.1402-7809_1402-7808insG (n.1402-7809_1402-7808insG)
c.2488_2489insG (p.Ile830SerfsTer?)
c.2668_2669insG (p.Ile890SerfsTer?)
c.2335_2336insG (p.Ile779SerfsTer?)
7g.117595018T>ACA368983997CFTRc.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)
7g.117595018T>CCA368983998CFTRc.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
7g.117595018T>GCA368983999CFTRc.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
7g.117595018T=CA1737362748CFTRc.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=)
7g.117595022delCA328105CFTRc.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
7g.117595018_117595019insGGCA2520184526CFTRc.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)
7g.117595019T>ACA457227615CFTRc.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=)
7g.117595019T>CCA457227616CFTRc.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=)
7g.117595019T>GCA368984000CFTRc.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)
7g.117595020T>ACA368984003CFTRc.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)
7g.117595020T>CCA368984002CFTRc.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)
7g.117595020T>GCA368984001CFTRc.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)
7g.117595021T>ACA368984004CFTRc.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)
7g.117595021T>CCA368984006CFTRc.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
7g.117595021T>GCA368984005CFTRc.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
7g.117595021T=CA1737362751CFTRc.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=)
7g.117595022T>ACA368984007CFTRc.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)
7g.117595022T>CCA457227618CFTRc.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=)
7g.117595022T>GCA368984008CFTRc.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)
7g.117595022_117595033delinsTGTGCTAATTTGCA1737362756CFTRc.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=)
7g.117595023G>ACA368984009CFTRc.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
7g.117595023G>CCA368984010CFTRc.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)
7g.117595023G=CA1737362762CFTRc.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=)
7g.117595023G>TCA4451232CFTRc.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
7g.117595028_117595038delCA326852CFTRc.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
7g.117595024delCA2695208528CFTRc.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)
7g.117595024T>ACA368984011CFTRc.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)
7g.117595024T>CCA368984012CFTRc.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)
7g.117595024T>GCA368984013CFTRc.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)
7g.117595025G>ACA457227620CFTRc.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=)
7g.117595025G>CCA457227622CFTRc.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=)
7g.117595025G>TCA457227623CFTRc.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=)
7g.117595026C>ACA368984014CFTRc.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
7g.117595026C=CA1737362764CFTRc.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=)
7g.117595026C>GCA368984015CFTRc.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)
7g.117595026C>TCA457227624CFTRc.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
7g.117595027T>ACA368984018CFTRc.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)
7g.117595027T>CCA368984016CFTRc.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
7g.117595027T>GCA368984017CFTRc.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)
7g.117595028A>CCA457227628CFTRc.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=)
7g.117595028A>GCA457227629CFTRc.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
7g.117595028A>TCA457227630CFTRc.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=)
7g.117595029A>CCA368984019CFTRc.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)
7g.117595029A>GCA368984020CFTRc.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)
7g.117595029A>TCA368984021CFTRc.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)
7g.117595029_117595031delinsATTCA1737362766CFTRc.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=)
7g.117595030T>ACA368984022CFTRc.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)
7g.117595030T>CCA368984023CFTRc.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)
7g.117595030T>GCA368984024CFTRc.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)
7g.117595031_117595032delCA326853CFTRc.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
7g.117595031T>ACA457227633CFTRc.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
7g.117595031T>CCA457227632CFTRc.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
7g.117595031T>GCA368984025CFTRc.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)
7g.117595031T=CA1737362773CFTRc.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=)
7g.117595032T>ACA368984026CFTRc.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)
7g.117595032T>CCA368984027CFTRc.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)
7g.117595032T>GCA368984028CFTRc.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)
7g.117595033G>ACA368984031CFTRc.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)
7g.117595033G>CCA368984030CFTRc.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)
7g.117595033G>TCA368984029CFTRc.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
7g.117595034G>ACA368984032CFTRc.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)
7g.117595034G>CCA368984034CFTRc.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)
7g.117595034G>TCA368984033CFTRc.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)
7g.117595035T>ACA368984035CFTRc.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)
7g.117595035T>CCA326854CFTRc.2596T>C (p.Cys866Arg)
c.*2310T>C (n.*2310T>C)
c.2413T>C (p.Cys805Arg)
c.*896T>C (n.*896T>C)
c.*2420T>C (n.*2420T>C)
c.2170T>C (p.Cys724Arg)
c.187T>C (p.Cys63Arg)
c.246T>C
c.1402-7791T>C (n.1402-7791T>C)
c.2506T>C (p.Cys836Arg)
c.2686T>C (p.Cys896Arg)
c.2353T>C (p.Cys785Arg)
 ClinVar dbSNP
7g.117595035T>GCA368984036CFTRc.2596T>G (p.Cys866Gly)
c.*2310T>G (n.*2310T>G)
c.2413T>G (p.Cys805Gly)
c.*896T>G (n.*896T>G)
c.*2420T>G (n.*2420T>G)
c.2170T>G (p.Cys724Gly)
c.187T>G (p.Cys63Gly)
c.246T>G
c.1402-7791T>G (n.1402-7791T>G)
c.2506T>G (p.Cys836Gly)
c.2686T>G (p.Cys896Gly)
c.2353T>G (p.Cys785Gly)
7g.117595035T=CA1737362781CFTRc.2596T= (p.Cys866=)
c.*2310T= (n.*2310T=)
c.2413T= (p.Cys805=)
c.*896T= (n.*896T=)
c.*2420T= (n.*2420T=)
c.2170T= (p.Cys724=)
c.187T= (p.Cys63=)
c.246T=
c.1402-7791T= (n.1402-7791T=)
c.2506T= (p.Cys836=)
c.2686T= (p.Cys896=)
c.2353T= (p.Cys785=)
7g.117595036G>ACA325700CFTRc.2597G>A (p.Cys866Tyr)
c.*2311G>A (n.*2311G>A)
c.2414G>A (p.Cys805Tyr)
c.*897G>A (n.*897G>A)
c.*2421G>A (n.*2421G>A)
c.2171G>A (p.Cys724Tyr)
c.188G>A (p.Cys63Tyr)
c.247G>A
c.1402-7790G>A (n.1402-7790G>A)
c.2507G>A (p.Cys836Tyr)
c.2687G>A (p.Cys896Tyr)
c.2354G>A (p.Cys785Tyr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
7g.117595036G>CCA368984037CFTRc.2597G>C (p.Cys866Ser)
c.*2311G>C (n.*2311G>C)
c.2414G>C (p.Cys805Ser)
c.*897G>C (n.*897G>C)
c.*2421G>C (n.*2421G>C)
c.2171G>C (p.Cys724Ser)
c.188G>C (p.Cys63Ser)
c.247G>C
c.1402-7790G>C (n.1402-7790G>C)
c.2507G>C (p.Cys836Ser)
c.2687G>C (p.Cys896Ser)
c.2354G>C (p.Cys785Ser)
7g.117595036G=CA1737362786CFTRc.2597G= (p.Cys866=)
c.*2311G= (n.*2311G=)
c.2414G= (p.Cys805=)
c.*897G= (n.*897G=)
c.*2421G= (n.*2421G=)
c.2171G= (p.Cys724=)
c.188G= (p.Cys63=)
c.247G=
c.1402-7790G= (n.1402-7790G=)
c.2507G= (p.Cys836=)
c.2687G= (p.Cys896=)
c.2354G= (p.Cys785=)
7g.117595036G>TCA368984038CFTRc.2597G>T (p.Cys866Phe)
c.*2311G>T (n.*2311G>T)
c.2414G>T (p.Cys805Phe)
c.*897G>T (n.*897G>T)
c.*2421G>T (n.*2421G>T)
c.2171G>T (p.Cys724Phe)
c.188G>T (p.Cys63Phe)
c.247G>T
c.1402-7790G>T (n.1402-7790G>T)
c.2507G>T (p.Cys836Phe)
c.2687G>T (p.Cys896Phe)
c.2354G>T (p.Cys785Phe)

Number of alleles fetched