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.117592436A=CA1737395159CFTRc.2269A= (p.Thr757=)
c.*1983A= (n.*1983A=)
c.2086A= (p.Thr696=)
c.*569A= (n.*569A=)
c.*2093A= (n.*2093A=)
c.1843A= (p.Thr615=)
c.1402-10390A= (n.1402-10390A=)
c.2179A= (p.Thr727=)
c.2359A= (p.Thr787=)
c.2026A= (p.Thr676=)
7g.117592436A>CCA368980750CFTRc.2269A>C (p.Thr757Pro)
c.*1983A>C (n.*1983A>C)
c.2086A>C (p.Thr696Pro)
c.*569A>C (n.*569A>C)
c.*2093A>C (n.*2093A>C)
c.1843A>C (p.Thr615Pro)
c.1402-10390A>C (n.1402-10390A>C)
c.2179A>C (p.Thr727Pro)
c.2359A>C (p.Thr787Pro)
c.2026A>C (p.Thr676Pro)
7g.117592436A>GCA368980751CFTRc.2269A>G (p.Thr757Ala)
c.*1983A>G (n.*1983A>G)
c.2086A>G (p.Thr696Ala)
c.*569A>G (n.*569A>G)
c.*2093A>G (n.*2093A>G)
c.1843A>G (p.Thr615Ala)
c.1402-10390A>G (n.1402-10390A>G)
c.2179A>G (p.Thr727Ala)
c.2359A>G (p.Thr787Ala)
c.2026A>G (p.Thr676Ala)
 dbSNP gnomAD v3 gnomAD v4
7g.117592436A>TCA368980753CFTRc.2269A>T (p.Thr757Ser)
c.*1983A>T (n.*1983A>T)
c.2086A>T (p.Thr696Ser)
c.*569A>T (n.*569A>T)
c.*2093A>T (n.*2093A>T)
c.1843A>T (p.Thr615Ser)
c.1402-10390A>T (n.1402-10390A>T)
c.2179A>T (p.Thr727Ser)
c.2359A>T (p.Thr787Ser)
c.2026A>T (p.Thr676Ser)
7g.117592437C>ACA368980754CFTRc.2270C>A (p.Thr757Asn)
c.*1984C>A (n.*1984C>A)
c.2087C>A (p.Thr696Asn)
c.*570C>A (n.*570C>A)
c.*2094C>A (n.*2094C>A)
c.1844C>A (p.Thr615Asn)
c.1402-10389C>A (n.1402-10389C>A)
c.2180C>A (p.Thr727Asn)
c.2360C>A (p.Thr787Asn)
c.2027C>A (p.Thr676Asn)
7g.117592437C=CA1737395161CFTRc.2270C= (p.Thr757=)
c.*1984C= (n.*1984C=)
c.2087C= (p.Thr696=)
c.*570C= (n.*570C=)
c.*2094C= (n.*2094C=)
c.1844C= (p.Thr615=)
c.1402-10389C= (n.1402-10389C=)
c.2180C= (p.Thr727=)
c.2360C= (p.Thr787=)
c.2027C= (p.Thr676=)
7g.117592437C>GCA368980756CFTRc.2270C>G (p.Thr757Ser)
c.*1984C>G (n.*1984C>G)
c.2087C>G (p.Thr696Ser)
c.*570C>G (n.*570C>G)
c.*2094C>G (n.*2094C>G)
c.1844C>G (p.Thr615Ser)
c.1402-10389C>G (n.1402-10389C>G)
c.2180C>G (p.Thr727Ser)
c.2360C>G (p.Thr787Ser)
c.2027C>G (p.Thr676Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.117592437C>TCA368980758CFTRc.2270C>T (p.Thr757Ile)
c.*1984C>T (n.*1984C>T)
c.2087C>T (p.Thr696Ile)
c.*570C>T (n.*570C>T)
c.*2094C>T (n.*2094C>T)
c.1844C>T (p.Thr615Ile)
c.1402-10389C>T (n.1402-10389C>T)
c.2180C>T (p.Thr727Ile)
c.2360C>T (p.Thr787Ile)
c.2027C>T (p.Thr676Ile)
 ClinVar
7g.117592438T>ACA457449605CFTRc.2271T>A (p.Thr757=)
c.*1985T>A (n.*1985T>A)
c.2088T>A (p.Thr696=)
c.*571T>A (n.*571T>A)
c.*2095T>A (n.*2095T>A)
c.1845T>A (p.Thr615=)
c.1402-10388T>A (n.1402-10388T>A)
c.2181T>A (p.Thr727=)
c.2361T>A (p.Thr787=)
c.2028T>A (p.Thr676=)
7g.117592438T>CCA457449608CFTRc.2271T>C (p.Thr757=)
c.*1985T>C (n.*1985T>C)
c.2088T>C (p.Thr696=)
c.*571T>C (n.*571T>C)
c.*2095T>C (n.*2095T>C)
c.1845T>C (p.Thr615=)
c.1402-10388T>C (n.1402-10388T>C)
c.2181T>C (p.Thr727=)
c.2361T>C (p.Thr787=)
c.2028T>C (p.Thr676=)
7g.117592438T>GCA457449609CFTRc.2271T>G (p.Thr757=)
c.*1985T>G (n.*1985T>G)
c.2088T>G (p.Thr696=)
c.*571T>G (n.*571T>G)
c.*2095T>G (n.*2095T>G)
c.1845T>G (p.Thr615=)
c.1402-10388T>G (n.1402-10388T>G)
c.2181T>G (p.Thr727=)
c.2361T>G (p.Thr787=)
c.2028T>G (p.Thr676=)
7g.117592439G>ACA368980761CFTRc.2272G>A (p.Gly758Ser)
c.*1986G>A (n.*1986G>A)
c.2089G>A (p.Gly697Ser)
c.*572G>A (n.*572G>A)
c.*2096G>A (n.*2096G>A)
c.1846G>A (p.Gly616Ser)
c.1402-10387G>A (n.1402-10387G>A)
c.2182G>A (p.Gly728Ser)
c.2362G>A (p.Gly788Ser)
c.2029G>A (p.Gly677Ser)
7g.117592439G>CCA368980763CFTRc.2272G>C (p.Gly758Arg)
c.*1986G>C (n.*1986G>C)
c.2089G>C (p.Gly697Arg)
c.*572G>C (n.*572G>C)
c.*2096G>C (n.*2096G>C)
c.1846G>C (p.Gly616Arg)
c.1402-10387G>C (n.1402-10387G>C)
c.2182G>C (p.Gly728Arg)
c.2362G>C (p.Gly788Arg)
c.2029G>C (p.Gly677Arg)
7g.117592439G>TCA368980765CFTRc.2272G>T (p.Gly758Cys)
c.*1986G>T (n.*1986G>T)
c.2089G>T (p.Gly697Cys)
c.*572G>T (n.*572G>T)
c.*2096G>T (n.*2096G>T)
c.1846G>T (p.Gly616Cys)
c.1402-10387G>T (n.1402-10387G>T)
c.2182G>T (p.Gly728Cys)
c.2362G>T (p.Gly788Cys)
c.2029G>T (p.Gly677Cys)
7g.117592440G>ACA368980770CFTRc.2273G>A (p.Gly758Asp)
c.*1987G>A (n.*1987G>A)
c.2090G>A (p.Gly697Asp)
c.*573G>A (n.*573G>A)
c.*2097G>A (n.*2097G>A)
c.1847G>A (p.Gly616Asp)
c.1402-10386G>A (n.1402-10386G>A)
c.2183G>A (p.Gly728Asp)
c.2363G>A (p.Gly788Asp)
c.2030G>A (p.Gly677Asp)
7g.117592440G>CCA368980773CFTRc.2273G>C (p.Gly758Ala)
c.*1987G>C (n.*1987G>C)
c.2090G>C (p.Gly697Ala)
c.*573G>C (n.*573G>C)
c.*2097G>C (n.*2097G>C)
c.1847G>C (p.Gly616Ala)
c.1402-10386G>C (n.1402-10386G>C)
c.2183G>C (p.Gly728Ala)
c.2363G>C (p.Gly788Ala)
c.2030G>C (p.Gly677Ala)
7g.117592440G>TCA368980768CFTRc.2273G>T (p.Gly758Val)
c.*1987G>T (n.*1987G>T)
c.2090G>T (p.Gly697Val)
c.*573G>T (n.*573G>T)
c.*2097G>T (n.*2097G>T)
c.1847G>T (p.Gly616Val)
c.1402-10386G>T (n.1402-10386G>T)
c.2183G>T (p.Gly728Val)
c.2363G>T (p.Gly788Val)
c.2030G>T (p.Gly677Val)
7g.117592440_117592442delinsGCCCA1737395164CFTRc.2273_2275delinsGCC (p.Gly758=)
c.*1987_*1989delinsGCC (n.*1987_*1989delinsGCC)
c.2090_2092delinsGCC (p.Gly697=)
c.*573_*575delinsGCC (n.*573_*575delinsGCC)
c.*2097_*2099delinsGCC (n.*2097_*2099delinsGCC)
c.1847_1849delinsGCC (p.Gly616=)
c.1402-10386_1402-10384delinsGCC (n.1402-10386_1402-10384delinsGCC)
c.2183_2185delinsGCC (p.Gly728=)
c.2363_2365delinsGCC (p.Gly788=)
c.2030_2032delinsGCC (p.Gly677=)
7g.117592440_117592456delinsGCCCCACGCTTCAGGCACA1737395165CFTRc.2273_2289delinsGCCCCACGCTTCAGGCA (p.Gly758=)
c.*1987_*2003delinsGCCCCACGCTTCAGGCA (n.*1987_*2003delinsGCCCCACGCTTCAGGCA)
c.2090_2106delinsGCCCCACGCTTCAGGCA (p.Gly697=)
c.*573_*589delinsGCCCCACGCTTCAGGCA (n.*573_*589delinsGCCCCACGCTTCAGGCA)
c.*2097_*2113delinsGCCCCACGCTTCAGGCA (n.*2097_*2113delinsGCCCCACGCTTCAGGCA)
c.1847_1863delinsGCCCCACGCTTCAGGCA (p.Gly616=)
c.1402-10386_1402-10370delinsGCCCCACGCTTCAGGCA (n.1402-10386_1402-10370delinsGCCCCACGCTTCAGGCA)
c.2183_2199delinsGCCCCACGCTTCAGGCA (p.Gly728=)
c.2363_2379delinsGCCCCACGCTTCAGGCA (p.Gly788=)
c.2030_2046delinsGCCCCACGCTTCAGGCA (p.Gly677=)
7g.117592441C>ACA457449610CFTRc.2274C>A (p.Gly758=)
c.*1988C>A (n.*1988C>A)
c.2091C>A (p.Gly697=)
c.*574C>A (n.*574C>A)
c.*2098C>A (n.*2098C>A)
c.1848C>A (p.Gly616=)
c.1402-10385C>A (n.1402-10385C>A)
c.2184C>A (p.Gly728=)
c.2364C>A (p.Gly788=)
c.2031C>A (p.Gly677=)
 gnomAD v4
7g.117592441C>GCA457449612CFTRc.2274C>G (p.Gly758=)
c.*1988C>G (n.*1988C>G)
c.2091C>G (p.Gly697=)
c.*574C>G (n.*574C>G)
c.*2098C>G (n.*2098C>G)
c.1848C>G (p.Gly616=)
c.1402-10385C>G (n.1402-10385C>G)
c.2184C>G (p.Gly728=)
c.2364C>G (p.Gly788=)
c.2031C>G (p.Gly677=)
7g.117592441C>TCA457449613CFTRc.2274C>T (p.Gly758=)
c.*1988C>T (n.*1988C>T)
c.2091C>T (p.Gly697=)
c.*574C>T (n.*574C>T)
c.*2098C>T (n.*2098C>T)
c.1848C>T (p.Gly616=)
c.1402-10385C>T (n.1402-10385C>T)
c.2184C>T (p.Gly728=)
c.2364C>T (p.Gly788=)
c.2031C>T (p.Gly677=)
7g.117592443_117592444delCA326785CFTRc.2276_2277del (p.Pro759HisfsTer19)
c.*1990_*1991del (n.*1990_*1991del)
c.2093_2094del (p.Pro698HisfsTer19)
c.*576_*577del (n.*576_*577del)
c.*2100_*2101del (n.*2100_*2101del)
c.1850_1851del (p.Pro617HisfsTer19)
c.1402-10383_1402-10382del (n.1402-10383_1402-10382del)
c.2186_2187del (p.Pro729HisfsTer19)
c.2366_2367del (p.Pro789HisfsTer19)
c.2033_2034del (p.Pro678HisfsTer19)
 dbSNP
7g.117592442_117592457delCA577680772CFTRc.2275_2290del (p.Pro759GlufsTer7)
c.*1989_*2004del (n.*1989_*2004del)
c.2092_2107del (p.Pro698GlufsTer7)
c.*575_*590del (n.*575_*590del)
c.*2099_*2114del (n.*2099_*2114del)
c.1849_1864del (p.Pro617GlufsTer7)
c.1402-10384_1402-10369del (n.1402-10384_1402-10369del)
c.2185_2200del (p.Pro729GlufsTer7)
c.2365_2380del (p.Pro789GlufsTer7)
c.2032_2047del (p.Pro678GlufsTer7)
 dbSNP gnomAD v2 gnomAD v4
7g.117592442C>ACA368980778CFTRc.2275C>A (p.Pro759Thr)
c.*1989C>A (n.*1989C>A)
c.2092C>A (p.Pro698Thr)
c.*575C>A (n.*575C>A)
c.*2099C>A (n.*2099C>A)
c.1849C>A (p.Pro617Thr)
c.1402-10384C>A (n.1402-10384C>A)
c.2185C>A (p.Pro729Thr)
c.2365C>A (p.Pro789Thr)
c.2032C>A (p.Pro678Thr)
 ClinVar dbSNP
7g.117592442C=CA1737395168CFTRc.2275C= (p.Pro759=)
c.*1989C= (n.*1989C=)
c.2092C= (p.Pro698=)
c.*575C= (n.*575C=)
c.*2099C= (n.*2099C=)
c.1849C= (p.Pro617=)
c.1402-10384C= (n.1402-10384C=)
c.2185C= (p.Pro729=)
c.2365C= (p.Pro789=)
c.2032C= (p.Pro678=)
7g.117592442C>GCA368980782CFTRc.2275C>G (p.Pro759Ala)
c.*1989C>G (n.*1989C>G)
c.2092C>G (p.Pro698Ala)
c.*575C>G (n.*575C>G)
c.*2099C>G (n.*2099C>G)
c.1849C>G (p.Pro617Ala)
c.1402-10384C>G (n.1402-10384C>G)
c.2185C>G (p.Pro729Ala)
c.2365C>G (p.Pro789Ala)
c.2032C>G (p.Pro678Ala)
7g.117592442C>TCA368980780CFTRc.2275C>T (p.Pro759Ser)
c.*1989C>T (n.*1989C>T)
c.2092C>T (p.Pro698Ser)
c.*575C>T (n.*575C>T)
c.*2099C>T (n.*2099C>T)
c.1849C>T (p.Pro617Ser)
c.1402-10384C>T (n.1402-10384C>T)
c.2185C>T (p.Pro729Ser)
c.2365C>T (p.Pro789Ser)
c.2032C>T (p.Pro678Ser)
7g.117592443C>ACA368980785CFTRc.2276C>A (p.Pro759His)
c.*1990C>A (n.*1990C>A)
c.2093C>A (p.Pro698His)
c.*576C>A (n.*576C>A)
c.*2100C>A (n.*2100C>A)
c.1850C>A (p.Pro617His)
c.1402-10383C>A (n.1402-10383C>A)
c.2186C>A (p.Pro729His)
c.2366C>A (p.Pro789His)
c.2033C>A (p.Pro678His)
7g.117592443C>GCA368980788CFTRc.2276C>G (p.Pro759Arg)
c.*1990C>G (n.*1990C>G)
c.2093C>G (p.Pro698Arg)
c.*576C>G (n.*576C>G)
c.*2100C>G (n.*2100C>G)
c.1850C>G (p.Pro617Arg)
c.1402-10383C>G (n.1402-10383C>G)
c.2186C>G (p.Pro729Arg)
c.2366C>G (p.Pro789Arg)
c.2033C>G (p.Pro678Arg)
7g.117592443C>TCA368980791CFTRc.2276C>T (p.Pro759Leu)
c.*1990C>T (n.*1990C>T)
c.2093C>T (p.Pro698Leu)
c.*576C>T (n.*576C>T)
c.*2100C>T (n.*2100C>T)
c.1850C>T (p.Pro617Leu)
c.1402-10383C>T (n.1402-10383C>T)
c.2186C>T (p.Pro729Leu)
c.2366C>T (p.Pro789Leu)
c.2033C>T (p.Pro678Leu)
7g.117592443_117592444insTGTCA2684619361CFTRc.2276_2277insTGT (p.Pro759_Thr760insVal)
c.*1990_*1991insTGT (n.*1990_*1991insTGT)
c.2093_2094insTGT (p.Pro698_Thr699insVal)
c.*576_*577insTGT (n.*576_*577insTGT)
c.*2100_*2101insTGT (n.*2100_*2101insTGT)
c.1850_1851insTGT (p.Pro617_Thr618insVal)
c.1402-10383_1402-10382insTGT (n.1402-10383_1402-10382insTGT)
c.2186_2187insTGT (p.Pro729_Thr730insVal)
c.2366_2367insTGT (p.Pro789_Thr790insVal)
c.2033_2034insTGT (p.Pro678_Thr679insVal)
 gnomAD v4
7g.117592444C>ACA457449622CFTRc.2277C>A (p.Pro759=)
c.*1991C>A (n.*1991C>A)
c.2094C>A (p.Pro698=)
c.*577C>A (n.*577C>A)
c.*2101C>A (n.*2101C>A)
c.1851C>A (p.Pro617=)
c.1402-10382C>A (n.1402-10382C>A)
c.2187C>A (p.Pro729=)
c.2367C>A (p.Pro789=)
c.2034C>A (p.Pro678=)
7g.117592444C>GCA457449624CFTRc.2277C>G (p.Pro759=)
c.*1991C>G (n.*1991C>G)
c.2094C>G (p.Pro698=)
c.*577C>G (n.*577C>G)
c.*2101C>G (n.*2101C>G)
c.1851C>G (p.Pro617=)
c.1402-10382C>G (n.1402-10382C>G)
c.2187C>G (p.Pro729=)
c.2367C>G (p.Pro789=)
c.2034C>G (p.Pro678=)
7g.117592444C>TCA457449627CFTRc.2277C>T (p.Pro759=)
c.*1991C>T (n.*1991C>T)
c.2094C>T (p.Pro698=)
c.*577C>T (n.*577C>T)
c.*2101C>T (n.*2101C>T)
c.1851C>T (p.Pro617=)
c.1402-10382C>T (n.1402-10382C>T)
c.2187C>T (p.Pro729=)
c.2367C>T (p.Pro789=)
c.2034C>T (p.Pro678=)
7g.117592445A>CCA368980799CFTRc.2278A>C (p.Thr760Pro)
c.*1992A>C (n.*1992A>C)
c.2095A>C (p.Thr699Pro)
c.*578A>C (n.*578A>C)
c.*2102A>C (n.*2102A>C)
c.1852A>C (p.Thr618Pro)
c.1402-10381A>C (n.1402-10381A>C)
c.2188A>C (p.Thr730Pro)
c.2368A>C (p.Thr790Pro)
c.2035A>C (p.Thr679Pro)
7g.117592445A>GCA368980795CFTRc.2278A>G (p.Thr760Ala)
c.*1992A>G (n.*1992A>G)
c.2095A>G (p.Thr699Ala)
c.*578A>G (n.*578A>G)
c.*2102A>G (n.*2102A>G)
c.1852A>G (p.Thr618Ala)
c.1402-10381A>G (n.1402-10381A>G)
c.2188A>G (p.Thr730Ala)
c.2368A>G (p.Thr790Ala)
c.2035A>G (p.Thr679Ala)
 ClinVar
7g.117592445A>TCA368980797CFTRc.2278A>T (p.Thr760Ser)
c.*1992A>T (n.*1992A>T)
c.2095A>T (p.Thr699Ser)
c.*578A>T (n.*578A>T)
c.*2102A>T (n.*2102A>T)
c.1852A>T (p.Thr618Ser)
c.1402-10381A>T (n.1402-10381A>T)
c.2188A>T (p.Thr730Ser)
c.2368A>T (p.Thr790Ser)
c.2035A>T (p.Thr679Ser)
7g.117592445dupCA2573141692CFTRc.2278dup (p.Thr760AsnfsTer19)
c.*1992dup (n.*1992dup)
c.2095dup (p.Thr699AsnfsTer19)
c.*578dup (n.*578dup)
c.*2102dup (n.*2102dup)
c.1852dup (p.Thr618AsnfsTer19)
c.1402-10381dup (n.1402-10381dup)
c.2188dup (p.Thr730AsnfsTer19)
c.2368dup (p.Thr790AsnfsTer19)
c.2035dup (p.Thr679AsnfsTer19)
 ClinVar dbSNP
7g.117592446C>ACA368980803CFTRc.2279C>A (p.Thr760Lys)
c.*1993C>A (n.*1993C>A)
c.2096C>A (p.Thr699Lys)
c.*579C>A (n.*579C>A)
c.*2103C>A (n.*2103C>A)
c.1853C>A (p.Thr618Lys)
c.1402-10380C>A (n.1402-10380C>A)
c.2189C>A (p.Thr730Lys)
c.2369C>A (p.Thr790Lys)
c.2036C>A (p.Thr679Lys)
7g.117592446C=CA1737395175CFTRc.2279C= (p.Thr760=)
c.*1993C= (n.*1993C=)
c.2096C= (p.Thr699=)
c.*579C= (n.*579C=)
c.*2103C= (n.*2103C=)
c.1853C= (p.Thr618=)
c.1402-10380C= (n.1402-10380C=)
c.2189C= (p.Thr730=)
c.2369C= (p.Thr790=)
c.2036C= (p.Thr679=)
7g.117592446C>GCA4451165CFTRc.2279C>G (p.Thr760Arg)
c.*1993C>G (n.*1993C>G)
c.2096C>G (p.Thr699Arg)
c.*579C>G (n.*579C>G)
c.*2103C>G (n.*2103C>G)
c.1853C>G (p.Thr618Arg)
c.1402-10380C>G (n.1402-10380C>G)
c.2189C>G (p.Thr730Arg)
c.2369C>G (p.Thr790Arg)
c.2036C>G (p.Thr679Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.117592446C>TCA326786CFTRc.2279C>T (p.Thr760Met)
c.*1993C>T (n.*1993C>T)
c.2096C>T (p.Thr699Met)
c.*579C>T (n.*579C>T)
c.*2103C>T (n.*2103C>T)
c.1853C>T (p.Thr618Met)
c.1402-10380C>T (n.1402-10380C>T)
c.2189C>T (p.Thr730Met)
c.2369C>T (p.Thr790Met)
c.2036C>T (p.Thr679Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117592447G>ACA4451166CFTRc.2280G>A (p.Thr760=)
c.*1994G>A (n.*1994G>A)
c.2097G>A (p.Thr699=)
c.*580G>A (n.*580G>A)
c.*2104G>A (n.*2104G>A)
c.1854G>A (p.Thr618=)
c.1402-10379G>A (n.1402-10379G>A)
c.2190G>A (p.Thr730=)
c.2370G>A (p.Thr790=)
c.2037G>A (p.Thr679=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
7g.117592447G>CCA457449632CFTRc.2280G>C (p.Thr760=)
c.*1994G>C (n.*1994G>C)
c.2097G>C (p.Thr699=)
c.*580G>C (n.*580G>C)
c.*2104G>C (n.*2104G>C)
c.1854G>C (p.Thr618=)
c.1402-10379G>C (n.1402-10379G>C)
c.2190G>C (p.Thr730=)
c.2370G>C (p.Thr790=)
c.2037G>C (p.Thr679=)
 gnomAD v4
7g.117592447G=CA1737395180CFTRc.2280G= (p.Thr760=)
c.*1994G= (n.*1994G=)
c.2097G= (p.Thr699=)
c.*580G= (n.*580G=)
c.*2104G= (n.*2104G=)
c.1854G= (p.Thr618=)
c.1402-10379G= (n.1402-10379G=)
c.2190G= (p.Thr730=)
c.2370G= (p.Thr790=)
c.2037G= (p.Thr679=)
7g.117592447G>TCA457449631CFTRc.2280G>T (p.Thr760=)
c.*1994G>T (n.*1994G>T)
c.2097G>T (p.Thr699=)
c.*580G>T (n.*580G>T)
c.*2104G>T (n.*2104G>T)
c.1854G>T (p.Thr618=)
c.1402-10379G>T (n.1402-10379G>T)
c.2190G>T (p.Thr730=)
c.2370G>T (p.Thr790=)
c.2037G>T (p.Thr679=)
7g.117592448C>ACA368980815CFTRc.2281C>A (p.Leu761Ile)
c.*1995C>A (n.*1995C>A)
c.2098C>A (p.Leu700Ile)
c.*581C>A (n.*581C>A)
c.*2105C>A (n.*2105C>A)
c.1855C>A (p.Leu619Ile)
c.1402-10378C>A (n.1402-10378C>A)
c.2191C>A (p.Leu731Ile)
c.2371C>A (p.Leu791Ile)
c.2038C>A (p.Leu680Ile)
 ClinVar
7g.117592448C>GCA368980817CFTRc.2281C>G (p.Leu761Val)
c.*1995C>G (n.*1995C>G)
c.2098C>G (p.Leu700Val)
c.*581C>G (n.*581C>G)
c.*2105C>G (n.*2105C>G)
c.1855C>G (p.Leu619Val)
c.1402-10378C>G (n.1402-10378C>G)
c.2191C>G (p.Leu731Val)
c.2371C>G (p.Leu791Val)
c.2038C>G (p.Leu680Val)
7g.117592448C>TCA368980819CFTRc.2281C>T (p.Leu761Phe)
c.*1995C>T (n.*1995C>T)
c.2098C>T (p.Leu700Phe)
c.*581C>T (n.*581C>T)
c.*2105C>T (n.*2105C>T)
c.1855C>T (p.Leu619Phe)
c.1402-10378C>T (n.1402-10378C>T)
c.2191C>T (p.Leu731Phe)
c.2371C>T (p.Leu791Phe)
c.2038C>T (p.Leu680Phe)
 gnomAD v4
7g.117592449T>ACA368980823CFTRc.2282T>A (p.Leu761His)
c.*1996T>A (n.*1996T>A)
c.2099T>A (p.Leu700His)
c.*582T>A (n.*582T>A)
c.*2106T>A (n.*2106T>A)
c.1856T>A (p.Leu619His)
c.1402-10377T>A (n.1402-10377T>A)
c.2192T>A (p.Leu731His)
c.2372T>A (p.Leu791His)
c.2039T>A (p.Leu680His)
7g.117592449T>CCA164948166CFTRc.2282T>C (p.Leu761Pro)
c.*1996T>C (n.*1996T>C)
c.2099T>C (p.Leu700Pro)
c.*582T>C (n.*582T>C)
c.*2106T>C (n.*2106T>C)
c.1856T>C (p.Leu619Pro)
c.1402-10377T>C (n.1402-10377T>C)
c.2192T>C (p.Leu731Pro)
c.2372T>C (p.Leu791Pro)
c.2039T>C (p.Leu680Pro)
 dbSNP
7g.117592449T>GCA368980827CFTRc.2282T>G (p.Leu761Arg)
c.*1996T>G (n.*1996T>G)
c.2099T>G (p.Leu700Arg)
c.*582T>G (n.*582T>G)
c.*2106T>G (n.*2106T>G)
c.1856T>G (p.Leu619Arg)
c.1402-10377T>G (n.1402-10377T>G)
c.2192T>G (p.Leu731Arg)
c.2372T>G (p.Leu791Arg)
c.2039T>G (p.Leu680Arg)
7g.117592449T=CA1737395183CFTRc.2282T= (p.Leu761=)
c.*1996T= (n.*1996T=)
c.2099T= (p.Leu700=)
c.*582T= (n.*582T=)
c.*2106T= (n.*2106T=)
c.1856T= (p.Leu619=)
c.1402-10377T= (n.1402-10377T=)
c.2192T= (p.Leu731=)
c.2372T= (p.Leu791=)
c.2039T= (p.Leu680=)
7g.117592450dupCA2580076542CFTRc.2283dup (p.Gln762SerfsTer17)
c.*1997dup (n.*1997dup)
c.2100dup (p.Gln701SerfsTer17)
c.*583dup (n.*583dup)
c.*2107dup (n.*2107dup)
c.1857dup (p.Gln620SerfsTer17)
c.1402-10376dup (n.1402-10376dup)
c.2193dup (p.Gln732SerfsTer17)
c.2373dup (p.Gln792SerfsTer17)
c.2040dup (p.Gln681SerfsTer17)
 ClinVar
7g.117592450T>ACA457449638CFTRc.2283T>A (p.Leu761=)
c.*1997T>A (n.*1997T>A)
c.2100T>A (p.Leu700=)
c.*583T>A (n.*583T>A)
c.*2107T>A (n.*2107T>A)
c.1857T>A (p.Leu619=)
c.1402-10376T>A (n.1402-10376T>A)
c.2193T>A (p.Leu731=)
c.2373T>A (p.Leu791=)
c.2040T>A (p.Leu680=)
7g.117592450T>CCA457449640CFTRc.2283T>C (p.Leu761=)
c.*1997T>C (n.*1997T>C)
c.2100T>C (p.Leu700=)
c.*583T>C (n.*583T>C)
c.*2107T>C (n.*2107T>C)
c.1857T>C (p.Leu619=)
c.1402-10376T>C (n.1402-10376T>C)
c.2193T>C (p.Leu731=)
c.2373T>C (p.Leu791=)
c.2040T>C (p.Leu680=)
7g.117592450T>GCA457449645CFTRc.2283T>G (p.Leu761=)
c.*1997T>G (n.*1997T>G)
c.2100T>G (p.Leu700=)
c.*583T>G (n.*583T>G)
c.*2107T>G (n.*2107T>G)
c.1857T>G (p.Leu619=)
c.1402-10376T>G (n.1402-10376T>G)
c.2193T>G (p.Leu731=)
c.2373T>G (p.Leu791=)
c.2040T>G (p.Leu680=)
 ClinVar
7g.117592451C>ACA368980834CFTRc.2284C>A (p.Gln762Lys)
c.*1998C>A (n.*1998C>A)
c.2101C>A (p.Gln701Lys)
c.*584C>A (n.*584C>A)
c.*2108C>A (n.*2108C>A)
c.1858C>A (p.Gln620Lys)
c.1402-10375C>A (n.1402-10375C>A)
c.2194C>A (p.Gln732Lys)
c.2374C>A (p.Gln792Lys)
c.2041C>A (p.Gln681Lys)
7g.117592451C>GCA368980830CFTRc.2284C>G (p.Gln762Glu)
c.*1998C>G (n.*1998C>G)
c.2101C>G (p.Gln701Glu)
c.*584C>G (n.*584C>G)
c.*2108C>G (n.*2108C>G)
c.1858C>G (p.Gln620Glu)
c.1402-10375C>G (n.1402-10375C>G)
c.2194C>G (p.Gln732Glu)
c.2374C>G (p.Gln792Glu)
c.2041C>G (p.Gln681Glu)
7g.117592451C>TCA368980832CFTRc.2284C>T (p.Gln762Ter)
c.*1998C>T (n.*1998C>T)
c.2101C>T (p.Gln701Ter)
c.*584C>T (n.*584C>T)
c.*2108C>T (n.*2108C>T)
c.1858C>T (p.Gln620Ter)
c.1402-10375C>T (n.1402-10375C>T)
c.2194C>T (p.Gln732Ter)
c.2374C>T (p.Gln792Ter)
c.2041C>T (p.Gln681Ter)
 COSMIC
7g.117592452A>CCA368980838CFTRc.2285A>C (p.Gln762Pro)
c.*1999A>C (n.*1999A>C)
c.2102A>C (p.Gln701Pro)
c.*585A>C (n.*585A>C)
c.*2109A>C (n.*2109A>C)
c.1859A>C (p.Gln620Pro)
c.1402-10374A>C (n.1402-10374A>C)
c.2195A>C (p.Gln732Pro)
c.2375A>C (p.Gln792Pro)
c.2042A>C (p.Gln681Pro)
7g.117592452A>GCA368980840CFTRc.2285A>G (p.Gln762Arg)
c.*1999A>G (n.*1999A>G)
c.2102A>G (p.Gln701Arg)
c.*585A>G (n.*585A>G)
c.*2109A>G (n.*2109A>G)
c.1859A>G (p.Gln620Arg)
c.1402-10374A>G (n.1402-10374A>G)
c.2195A>G (p.Gln732Arg)
c.2375A>G (p.Gln792Arg)
c.2042A>G (p.Gln681Arg)
7g.117592452A>TCA368980842CFTRc.2285A>T (p.Gln762Leu)
c.*1999A>T (n.*1999A>T)
c.2102A>T (p.Gln701Leu)
c.*585A>T (n.*585A>T)
c.*2109A>T (n.*2109A>T)
c.1859A>T (p.Gln620Leu)
c.1402-10374A>T (n.1402-10374A>T)
c.2195A>T (p.Gln732Leu)
c.2375A>T (p.Gln792Leu)
c.2042A>T (p.Gln681Leu)
7g.117592453G>ACA457449653CFTRc.2286G>A (p.Gln762=)
c.*2000G>A (n.*2000G>A)
c.2103G>A (p.Gln701=)
c.*586G>A (n.*586G>A)
c.*2110G>A (n.*2110G>A)
c.1860G>A (p.Gln620=)
c.1402-10373G>A (n.1402-10373G>A)
c.2196G>A (p.Gln732=)
c.2376G>A (p.Gln792=)
c.2043G>A (p.Gln681=)
 ClinVar
7g.117592453G>CCA368980845CFTRc.2286G>C (p.Gln762His)
c.*2000G>C (n.*2000G>C)
c.2103G>C (p.Gln701His)
c.*586G>C (n.*586G>C)
c.*2110G>C (n.*2110G>C)
c.1860G>C (p.Gln620His)
c.1402-10373G>C (n.1402-10373G>C)
c.2196G>C (p.Gln732His)
c.2376G>C (p.Gln792His)
c.2043G>C (p.Gln681His)
7g.117592453G=CA1737395188CFTRc.2286G= (p.Gln762=)
c.*2000G= (n.*2000G=)
c.2103G= (p.Gln701=)
c.*586G= (n.*586G=)
c.*2110G= (n.*2110G=)
c.1860G= (p.Gln620=)
c.1402-10373G= (n.1402-10373G=)
c.2196G= (p.Gln732=)
c.2376G= (p.Gln792=)
c.2043G= (p.Gln681=)
7g.117592453G>TCA326788CFTRc.2286G>T (p.Gln762His)
c.*2000G>T (n.*2000G>T)
c.2103G>T (p.Gln701His)
c.*586G>T (n.*586G>T)
c.*2110G>T (n.*2110G>T)
c.1860G>T (p.Gln620His)
c.1402-10373G>T (n.1402-10373G>T)
c.2196G>T (p.Gln732His)
c.2376G>T (p.Gln792His)
c.2043G>T (p.Gln681His)
 dbSNP gnomAD v4
7g.117592454G>ACA368980850CFTRc.2287G>A (p.Ala763Thr)
c.*2001G>A (n.*2001G>A)
c.2104G>A (p.Ala702Thr)
c.*587G>A (n.*587G>A)
c.*2111G>A (n.*2111G>A)
c.1861G>A (p.Ala621Thr)
c.1402-10372G>A (n.1402-10372G>A)
c.2197G>A (p.Ala733Thr)
c.2377G>A (p.Ala793Thr)
c.2044G>A (p.Ala682Thr)
 ClinVar dbSNP gnomAD v4
7g.117592454G>CCA368980852CFTRc.2287G>C (p.Ala763Pro)
c.*2001G>C (n.*2001G>C)
c.2104G>C (p.Ala702Pro)
c.*587G>C (n.*587G>C)
c.*2111G>C (n.*2111G>C)
c.1861G>C (p.Ala621Pro)
c.1402-10372G>C (n.1402-10372G>C)
c.2197G>C (p.Ala733Pro)
c.2377G>C (p.Ala793Pro)
c.2044G>C (p.Ala682Pro)
7g.117592454G>TCA368980855CFTRc.2287G>T (p.Ala763Ser)
c.*2001G>T (n.*2001G>T)
c.2104G>T (p.Ala702Ser)
c.*587G>T (n.*587G>T)
c.*2111G>T (n.*2111G>T)
c.1861G>T (p.Ala621Ser)
c.1402-10372G>T (n.1402-10372G>T)
c.2197G>T (p.Ala733Ser)
c.2377G>T (p.Ala793Ser)
c.2044G>T (p.Ala682Ser)
 ClinVar
7g.117592455C>ACA368980858CFTRc.2288C>A (p.Ala763Glu)
c.*2002C>A (n.*2002C>A)
c.2105C>A (p.Ala702Glu)
c.*588C>A (n.*588C>A)
c.*2112C>A (n.*2112C>A)
c.1862C>A (p.Ala621Glu)
c.1402-10371C>A (n.1402-10371C>A)
c.2198C>A (p.Ala733Glu)
c.2378C>A (p.Ala793Glu)
c.2045C>A (p.Ala682Glu)
7g.117592455C>GCA368980860CFTRc.2288C>G (p.Ala763Gly)
c.*2002C>G (n.*2002C>G)
c.2105C>G (p.Ala702Gly)
c.*588C>G (n.*588C>G)
c.*2112C>G (n.*2112C>G)
c.1862C>G (p.Ala621Gly)
c.1402-10371C>G (n.1402-10371C>G)
c.2198C>G (p.Ala733Gly)
c.2378C>G (p.Ala793Gly)
c.2045C>G (p.Ala682Gly)
 ClinVar
7g.117592455C>TCA368980863CFTRc.2288C>T (p.Ala763Val)
c.*2002C>T (n.*2002C>T)
c.2105C>T (p.Ala702Val)
c.*588C>T (n.*588C>T)
c.*2112C>T (n.*2112C>T)
c.1862C>T (p.Ala621Val)
c.1402-10371C>T (n.1402-10371C>T)
c.2198C>T (p.Ala733Val)
c.2378C>T (p.Ala793Val)
c.2045C>T (p.Ala682Val)
7g.117592456A=CA1737395189CFTRc.2289A= (p.Ala763=)
c.*2003A= (n.*2003A=)
c.2106A= (p.Ala702=)
c.*589A= (n.*589A=)
c.*2113A= (n.*2113A=)
c.1863A= (p.Ala621=)
c.1402-10370A= (n.1402-10370A=)
c.2199A= (p.Ala733=)
c.2379A= (p.Ala793=)
c.2046A= (p.Ala682=)
7g.117592456A>CCA457449660CFTRc.2289A>C (p.Ala763=)
c.*2003A>C (n.*2003A>C)
c.2106A>C (p.Ala702=)
c.*589A>C (n.*589A>C)
c.*2113A>C (n.*2113A>C)
c.1863A>C (p.Ala621=)
c.1402-10370A>C (n.1402-10370A>C)
c.2199A>C (p.Ala733=)
c.2379A>C (p.Ala793=)
c.2046A>C (p.Ala682=)
7g.117592456A>GCA457449661CFTRc.2289A>G (p.Ala763=)
c.*2003A>G (n.*2003A>G)
c.2106A>G (p.Ala702=)
c.*589A>G (n.*589A>G)
c.*2113A>G (n.*2113A>G)
c.1863A>G (p.Ala621=)
c.1402-10370A>G (n.1402-10370A>G)
c.2199A>G (p.Ala733=)
c.2379A>G (p.Ala793=)
c.2046A>G (p.Ala682=)
 ClinVar dbSNP
7g.117592456A>TCA457449663CFTRc.2289A>T (p.Ala763=)
c.*2003A>T (n.*2003A>T)
c.2106A>T (p.Ala702=)
c.*589A>T (n.*589A>T)
c.*2113A>T (n.*2113A>T)
c.1863A>T (p.Ala621=)
c.1402-10370A>T (n.1402-10370A>T)
c.2199A>T (p.Ala733=)
c.2379A>T (p.Ala793=)
c.2046A>T (p.Ala682=)
7g.117592457C>ACA457449666CFTRc.2290C>A (p.Arg764=)
c.*2004C>A (n.*2004C>A)
c.2107C>A (p.Arg703=)
c.*590C>A (n.*590C>A)
c.*2114C>A (n.*2114C>A)
c.1864C>A (p.Arg622=)
c.1402-10369C>A (n.1402-10369C>A)
c.2200C>A (p.Arg734=)
c.2380C>A (p.Arg794=)
c.2047C>A (p.Arg683=)
 ClinVar gnomAD v4
7g.117592457C=CA1737395194CFTRc.2290C= (p.Arg764=)
c.*2004C= (n.*2004C=)
c.2107C= (p.Arg703=)
c.*590C= (n.*590C=)
c.*2114C= (n.*2114C=)
c.1864C= (p.Arg622=)
c.1402-10369C= (n.1402-10369C=)
c.2200C= (p.Arg734=)
c.2380C= (p.Arg794=)
c.2047C= (p.Arg683=)
7g.117592457C>GCA368980865CFTRc.2290C>G (p.Arg764Gly)
c.*2004C>G (n.*2004C>G)
c.2107C>G (p.Arg703Gly)
c.*590C>G (n.*590C>G)
c.*2114C>G (n.*2114C>G)
c.1864C>G (p.Arg622Gly)
c.1402-10369C>G (n.1402-10369C>G)
c.2200C>G (p.Arg734Gly)
c.2380C>G (p.Arg794Gly)
c.2047C>G (p.Arg683Gly)
7g.117592457C>TCA328100CFTRc.2290C>T (p.Arg764Ter)
c.*2004C>T (n.*2004C>T)
c.2107C>T (p.Arg703Ter)
c.*590C>T (n.*590C>T)
c.*2114C>T (n.*2114C>T)
c.1864C>T (p.Arg622Ter)
c.1402-10369C>T (n.1402-10369C>T)
c.2200C>T (p.Arg734Ter)
c.2380C>T (p.Arg794Ter)
c.2047C>T (p.Arg683Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
7g.117592457_117592458delinsCGCA1737395200CFTRc.2290_2291delinsCG (p.Arg764=)
c.*2004_*2005delinsCG (n.*2004_*2005delinsCG)
c.2107_2108delinsCG (p.Arg703=)
c.*590_*591delinsCG (n.*590_*591delinsCG)
c.*2114_*2115delinsCG (n.*2114_*2115delinsCG)
c.1864_1865delinsCG (p.Arg622=)
c.1402-10369_1402-10368delinsCG (n.1402-10369_1402-10368delinsCG)
c.2200_2201delinsCG (p.Arg734=)
c.2380_2381delinsCG (p.Arg794=)
c.2047_2048delinsCG (p.Arg683=)
7g.117592458delCA325606CFTRc.2291del (p.Arg764GlnfsTer7)
c.*2005del (n.*2005del)
c.2108del (p.Arg703GlnfsTer7)
c.*591del (n.*591del)
c.*2115del (n.*2115del)
c.1865del (p.Arg622GlnfsTer7)
c.1402-10368del (n.1402-10368del)
c.2201del (p.Arg734GlnfsTer7)
c.2381del (p.Arg794GlnfsTer7)
c.2048del (p.Arg683GlnfsTer7)
 ClinVar dbSNP
7g.117592458G>ACA368980869CFTRc.2291G>A (p.Arg764Gln)
c.*2005G>A (n.*2005G>A)
c.2108G>A (p.Arg703Gln)
c.*591G>A (n.*591G>A)
c.*2115G>A (n.*2115G>A)
c.1865G>A (p.Arg622Gln)
c.1402-10368G>A (n.1402-10368G>A)
c.2201G>A (p.Arg734Gln)
c.2381G>A (p.Arg794Gln)
c.2048G>A (p.Arg683Gln)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
7g.117592458G>CCA368980871CFTRc.2291G>C (p.Arg764Pro)
c.*2005G>C (n.*2005G>C)
c.2108G>C (p.Arg703Pro)
c.*591G>C (n.*591G>C)
c.*2115G>C (n.*2115G>C)
c.1865G>C (p.Arg622Pro)
c.1402-10368G>C (n.1402-10368G>C)
c.2201G>C (p.Arg734Pro)
c.2381G>C (p.Arg794Pro)
c.2048G>C (p.Arg683Pro)
7g.117592458G=CA1737395210CFTRc.2291G= (p.Arg764=)
c.*2005G= (n.*2005G=)
c.2108G= (p.Arg703=)
c.*591G= (n.*591G=)
c.*2115G= (n.*2115G=)
c.1865G= (p.Arg622=)
c.1402-10368G= (n.1402-10368G=)
c.2201G= (p.Arg734=)
c.2381G= (p.Arg794=)
c.2048G= (p.Arg683=)
7g.117592458G>TCA368980873CFTRc.2291G>T (p.Arg764Leu)
c.*2005G>T (n.*2005G>T)
c.2108G>T (p.Arg703Leu)
c.*591G>T (n.*591G>T)
c.*2115G>T (n.*2115G>T)
c.1865G>T (p.Arg622Leu)
c.1402-10368G>T (n.1402-10368G>T)
c.2201G>T (p.Arg734Leu)
c.2381G>T (p.Arg794Leu)
c.2048G>T (p.Arg683Leu)
7g.117592459A>CCA457449669CFTRc.2292A>C (p.Arg764=)
c.*2006A>C (n.*2006A>C)
c.2109A>C (p.Arg703=)
c.*592A>C (n.*592A>C)
c.*2116A>C (n.*2116A>C)
c.1866A>C (p.Arg622=)
c.1402-10367A>C (n.1402-10367A>C)
c.2202A>C (p.Arg734=)
c.2382A>C (p.Arg794=)
c.2049A>C (p.Arg683=)
7g.117592459A>GCA457449670CFTRc.2292A>G (p.Arg764=)
c.*2006A>G (n.*2006A>G)
c.2109A>G (p.Arg703=)
c.*592A>G (n.*592A>G)
c.*2116A>G (n.*2116A>G)
c.1866A>G (p.Arg622=)
c.1402-10367A>G (n.1402-10367A>G)
c.2202A>G (p.Arg734=)
c.2382A>G (p.Arg794=)
c.2049A>G (p.Arg683=)
 gnomAD v4
7g.117592459A>TCA457449671CFTRc.2292A>T (p.Arg764=)
c.*2006A>T (n.*2006A>T)
c.2109A>T (p.Arg703=)
c.*592A>T (n.*592A>T)
c.*2116A>T (n.*2116A>T)
c.1866A>T (p.Arg622=)
c.1402-10367A>T (n.1402-10367A>T)
c.2202A>T (p.Arg734=)
c.2382A>T (p.Arg794=)
c.2049A>T (p.Arg683=)
7g.117592460A>CCA457449673CFTRc.2293A>C (p.Arg765=)
c.*2007A>C (n.*2007A>C)
c.2110A>C (p.Arg704=)
c.*593A>C (n.*593A>C)
c.*2117A>C (n.*2117A>C)
c.1867A>C (p.Arg623=)
c.1402-10366A>C (n.1402-10366A>C)
c.2203A>C (p.Arg735=)
c.2383A>C (p.Arg795=)
c.2050A>C (p.Arg684=)
7g.117592460A>GCA368980876CFTRc.2293A>G (p.Arg765Gly)
c.*2007A>G (n.*2007A>G)
c.2110A>G (p.Arg704Gly)
c.*593A>G (n.*593A>G)
c.*2117A>G (n.*2117A>G)
c.1867A>G (p.Arg623Gly)
c.1402-10366A>G (n.1402-10366A>G)
c.2203A>G (p.Arg735Gly)
c.2383A>G (p.Arg795Gly)
c.2050A>G (p.Arg684Gly)
 ClinVar
7g.117592460A>TCA368980878CFTRc.2293A>T (p.Arg765Trp)
c.*2007A>T (n.*2007A>T)
c.2110A>T (p.Arg704Trp)
c.*593A>T (n.*593A>T)
c.*2117A>T (n.*2117A>T)
c.1867A>T (p.Arg623Trp)
c.1402-10366A>T (n.1402-10366A>T)
c.2203A>T (p.Arg735Trp)
c.2383A>T (p.Arg795Trp)
c.2050A>T (p.Arg684Trp)
7g.117592461G>ACA4451167CFTRc.2294G>A (p.Arg765Lys)
c.*2008G>A (n.*2008G>A)
c.2111G>A (p.Arg704Lys)
c.*594G>A (n.*594G>A)
c.*2118G>A (n.*2118G>A)
c.1868G>A (p.Arg623Lys)
c.1402-10365G>A (n.1402-10365G>A)
c.2204G>A (p.Arg735Lys)
c.2384G>A (p.Arg795Lys)
c.2051G>A (p.Arg684Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117592461G>CCA368980882CFTRc.2294G>C (p.Arg765Thr)
c.*2008G>C (n.*2008G>C)
c.2111G>C (p.Arg704Thr)
c.*594G>C (n.*594G>C)
c.*2118G>C (n.*2118G>C)
c.1868G>C (p.Arg623Thr)
c.1402-10365G>C (n.1402-10365G>C)
c.2204G>C (p.Arg735Thr)
c.2384G>C (p.Arg795Thr)
c.2051G>C (p.Arg684Thr)
7g.117592461G=CA1737395219CFTRc.2294G= (p.Arg765=)
c.*2008G= (n.*2008G=)
c.2111G= (p.Arg704=)
c.*594G= (n.*594G=)
c.*2118G= (n.*2118G=)
c.1868G= (p.Arg623=)
c.1402-10365G= (n.1402-10365G=)
c.2204G= (p.Arg735=)
c.2384G= (p.Arg795=)
c.2051G= (p.Arg684=)
7g.117592461G>TCA368980884CFTRc.2294G>T (p.Arg765Met)
c.*2008G>T (n.*2008G>T)
c.2111G>T (p.Arg704Met)
c.*594G>T (n.*594G>T)
c.*2118G>T (n.*2118G>T)
c.1868G>T (p.Arg623Met)
c.1402-10365G>T (n.1402-10365G>T)
c.2204G>T (p.Arg735Met)
c.2384G>T (p.Arg795Met)
c.2051G>T (p.Arg684Met)
7g.117592462G>ACA457449676CFTRc.2295G>A (p.Arg765=)
c.*2009G>A (n.*2009G>A)
c.2112G>A (p.Arg704=)
c.*595G>A (n.*595G>A)
c.*2119G>A (n.*2119G>A)
c.1869G>A (p.Arg623=)
c.1402-10364G>A (n.1402-10364G>A)
c.2205G>A (p.Arg735=)
c.2385G>A (p.Arg795=)
c.2052G>A (p.Arg684=)
 ClinVar
7g.117592462G>CCA368980887CFTRc.2295G>C (p.Arg765Ser)
c.*2009G>C (n.*2009G>C)
c.2112G>C (p.Arg704Ser)
c.*595G>C (n.*595G>C)
c.*2119G>C (n.*2119G>C)
c.1869G>C (p.Arg623Ser)
c.1402-10364G>C (n.1402-10364G>C)
c.2205G>C (p.Arg735Ser)
c.2385G>C (p.Arg795Ser)
c.2052G>C (p.Arg684Ser)
7g.117592462G>TCA368980888CFTRc.2295G>T (p.Arg765Ser)
c.*2009G>T (n.*2009G>T)
c.2112G>T (p.Arg704Ser)
c.*595G>T (n.*595G>T)
c.*2119G>T (n.*2119G>T)
c.1869G>T (p.Arg623Ser)
c.1402-10364G>T (n.1402-10364G>T)
c.2205G>T (p.Arg735Ser)
c.2385G>T (p.Arg795Ser)
c.2052G>T (p.Arg684Ser)
 gnomAD v4
7g.117592463A>CCA457449680CFTRc.2296A>C (p.Arg766=)
c.*2010A>C (n.*2010A>C)
c.2113A>C (p.Arg705=)
c.*596A>C (n.*596A>C)
c.*2120A>C (n.*2120A>C)
c.1870A>C (p.Arg624=)
c.1402-10363A>C (n.1402-10363A>C)
c.2206A>C (p.Arg736=)
c.2386A>C (p.Arg796=)
c.2053A>C (p.Arg685=)
7g.117592463A>GCA368980892CFTRc.2296A>G (p.Arg766Gly)
c.*2010A>G (n.*2010A>G)
c.2113A>G (p.Arg705Gly)
c.*596A>G (n.*596A>G)
c.*2120A>G (n.*2120A>G)
c.1870A>G (p.Arg624Gly)
c.1402-10363A>G (n.1402-10363A>G)
c.2206A>G (p.Arg736Gly)
c.2386A>G (p.Arg796Gly)
c.2053A>G (p.Arg685Gly)
7g.117592463A>TCA368980894CFTRc.2296A>T (p.Arg766Trp)
c.*2010A>T (n.*2010A>T)
c.2113A>T (p.Arg705Trp)
c.*596A>T (n.*596A>T)
c.*2120A>T (n.*2120A>T)
c.1870A>T (p.Arg624Trp)
c.1402-10363A>T (n.1402-10363A>T)
c.2206A>T (p.Arg736Trp)
c.2386A>T (p.Arg796Trp)
c.2053A>T (p.Arg685Trp)
7g.117592464G>ACA4451168CFTRc.2297G>A (p.Arg766Lys)
c.*2011G>A (n.*2011G>A)
c.2114G>A (p.Arg705Lys)
c.*597G>A (n.*597G>A)
c.*2121G>A (n.*2121G>A)
c.1871G>A (p.Arg624Lys)
c.1402-10362G>A (n.1402-10362G>A)
c.2207G>A (p.Arg736Lys)
c.2387G>A (p.Arg796Lys)
c.2054G>A (p.Arg685Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.117592464G>CCA368980900CFTRc.2297G>C (p.Arg766Thr)
c.*2011G>C (n.*2011G>C)
c.2114G>C (p.Arg705Thr)
c.*597G>C (n.*597G>C)
c.*2121G>C (n.*2121G>C)
c.1871G>C (p.Arg624Thr)
c.1402-10362G>C (n.1402-10362G>C)
c.2207G>C (p.Arg736Thr)
c.2387G>C (p.Arg796Thr)
c.2054G>C (p.Arg685Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.117592464G=CA1737395223CFTRc.2297G= (p.Arg766=)
c.*2011G= (n.*2011G=)
c.2114G= (p.Arg705=)
c.*597G= (n.*597G=)
c.*2121G= (n.*2121G=)
c.1871G= (p.Arg624=)
c.1402-10362G= (n.1402-10362G=)
c.2207G= (p.Arg736=)
c.2387G= (p.Arg796=)
c.2054G= (p.Arg685=)
7g.117592464G>TCA326790CFTRc.2297G>T (p.Arg766Met)
c.*2011G>T (n.*2011G>T)
c.2114G>T (p.Arg705Met)
c.*597G>T (n.*597G>T)
c.*2121G>T (n.*2121G>T)
c.1871G>T (p.Arg624Met)
c.1402-10362G>T (n.1402-10362G>T)
c.2207G>T (p.Arg736Met)
c.2387G>T (p.Arg796Met)
c.2054G>T (p.Arg685Met)
 ClinVar dbSNP
7g.117592465G>ACA457449683CFTRc.2298G>A (p.Arg766=)
c.*2012G>A (n.*2012G>A)
c.2115G>A (p.Arg705=)
c.*598G>A (n.*598G>A)
c.*2122G>A (n.*2122G>A)
c.1872G>A (p.Arg624=)
c.1402-10361G>A (n.1402-10361G>A)
c.2208G>A (p.Arg736=)
c.2388G>A (p.Arg796=)
c.2055G>A (p.Arg685=)
7g.117592465G>CCA368980903CFTRc.2298G>C (p.Arg766Ser)
c.*2012G>C (n.*2012G>C)
c.2115G>C (p.Arg705Ser)
c.*598G>C (n.*598G>C)
c.*2122G>C (n.*2122G>C)
c.1872G>C (p.Arg624Ser)
c.1402-10361G>C (n.1402-10361G>C)
c.2208G>C (p.Arg736Ser)
c.2388G>C (p.Arg796Ser)
c.2055G>C (p.Arg685Ser)
7g.117592465G>TCA368980905CFTRc.2298G>T (p.Arg766Ser)
c.*2012G>T (n.*2012G>T)
c.2115G>T (p.Arg705Ser)
c.*598G>T (n.*598G>T)
c.*2122G>T (n.*2122G>T)
c.1872G>T (p.Arg624Ser)
c.1402-10361G>T (n.1402-10361G>T)
c.2208G>T (p.Arg736Ser)
c.2388G>T (p.Arg796Ser)
c.2055G>T (p.Arg685Ser)
7g.117592466C>ACA368980906CFTRc.2299C>A (p.Gln767Lys)
c.*2013C>A (n.*2013C>A)
c.2116C>A (p.Gln706Lys)
c.*599C>A (n.*599C>A)
c.*2123C>A (n.*2123C>A)
c.1873C>A (p.Gln625Lys)
c.1402-10360C>A (n.1402-10360C>A)
c.2209C>A (p.Gln737Lys)
c.2389C>A (p.Gln797Lys)
c.2056C>A (p.Gln686Lys)
7g.117592466C=CA1737395230CFTRc.2299C= (p.Gln767=)
c.*2013C= (n.*2013C=)
c.2116C= (p.Gln706=)
c.*599C= (n.*599C=)
c.*2123C= (n.*2123C=)
c.1873C= (p.Gln625=)
c.1402-10360C= (n.1402-10360C=)
c.2209C= (p.Gln737=)
c.2389C= (p.Gln797=)
c.2056C= (p.Gln686=)
7g.117592466C>GCA368980909CFTRc.2299C>G (p.Gln767Glu)
c.*2013C>G (n.*2013C>G)
c.2116C>G (p.Gln706Glu)
c.*599C>G (n.*599C>G)
c.*2123C>G (n.*2123C>G)
c.1873C>G (p.Gln625Glu)
c.1402-10360C>G (n.1402-10360C>G)
c.2209C>G (p.Gln737Glu)
c.2389C>G (p.Gln797Glu)
c.2056C>G (p.Gln686Glu)
7g.117592466C>TCA368980912CFTRc.2299C>T (p.Gln767Ter)
c.*2013C>T (n.*2013C>T)
c.2116C>T (p.Gln706Ter)
c.*599C>T (n.*599C>T)
c.*2123C>T (n.*2123C>T)
c.1873C>T (p.Gln625Ter)
c.1402-10360C>T (n.1402-10360C>T)
c.2209C>T (p.Gln737Ter)
c.2389C>T (p.Gln797Ter)
c.2056C>T (p.Gln686Ter)
 ClinVar dbSNP
7g.117592466_117592467insGACTCA2684619362CFTRc.2299_2300insGACT (p.Gln767ArgfsTer13)
c.*2013_*2014insGACT (n.*2013_*2014insGACT)
c.2116_2117insGACT (p.Gln706ArgfsTer13)
c.*599_*600insGACT (n.*599_*600insGACT)
c.*2123_*2124insGACT (n.*2123_*2124insGACT)
c.1873_1874insGACT (p.Gln625ArgfsTer13)
c.1402-10360_1402-10359insGACT (n.1402-10360_1402-10359insGACT)
c.2209_2210insGACT (p.Gln737ArgfsTer13)
c.2389_2390insGACT (p.Gln797ArgfsTer13)
c.2056_2057insGACT (p.Gln686ArgfsTer13)
 gnomAD v4
7g.117592467A>CCA368980914CFTRc.2300A>C (p.Gln767Pro)
c.*2014A>C (n.*2014A>C)
c.2117A>C (p.Gln706Pro)
c.*600A>C (n.*600A>C)
c.*2124A>C (n.*2124A>C)
c.1874A>C (p.Gln625Pro)
c.1402-10359A>C (n.1402-10359A>C)
c.2210A>C (p.Gln737Pro)
c.2390A>C (p.Gln797Pro)
c.2057A>C (p.Gln686Pro)
7g.117592467A>GCA368980916CFTRc.2300A>G (p.Gln767Arg)
c.*2014A>G (n.*2014A>G)
c.2117A>G (p.Gln706Arg)
c.*600A>G (n.*600A>G)
c.*2124A>G (n.*2124A>G)
c.1874A>G (p.Gln625Arg)
c.1402-10359A>G (n.1402-10359A>G)
c.2210A>G (p.Gln737Arg)
c.2390A>G (p.Gln797Arg)
c.2057A>G (p.Gln686Arg)
7g.117592467A>TCA368980918CFTRc.2300A>T (p.Gln767Leu)
c.*2014A>T (n.*2014A>T)
c.2117A>T (p.Gln706Leu)
c.*600A>T (n.*600A>T)
c.*2124A>T (n.*2124A>T)
c.1874A>T (p.Gln625Leu)
c.1402-10359A>T (n.1402-10359A>T)
c.2210A>T (p.Gln737Leu)
c.2390A>T (p.Gln797Leu)
c.2057A>T (p.Gln686Leu)
 gnomAD v4
7g.117592468delCA2573141693CFTRc.2301del (p.Gln767HisfsTer4)
c.*2015del (n.*2015del)
c.2118del (p.Gln706HisfsTer4)
c.*601del (n.*601del)
c.*2125del (n.*2125del)
c.1875del (p.Gln625HisfsTer4)
c.1402-10358del (n.1402-10358del)
c.2211del (p.Gln737HisfsTer4)
c.2391del (p.Gln797HisfsTer4)
c.2058del (p.Gln686HisfsTer4)
 ClinVar dbSNP
7g.117592468G>ACA457449689CFTRc.2301G>A (p.Gln767=)
c.*2015G>A (n.*2015G>A)
c.2118G>A (p.Gln706=)
c.*601G>A (n.*601G>A)
c.*2125G>A (n.*2125G>A)
c.1875G>A (p.Gln625=)
c.1402-10358G>A (n.1402-10358G>A)
c.2211G>A (p.Gln737=)
c.2391G>A (p.Gln797=)
c.2058G>A (p.Gln686=)
 ClinVar dbSNP
7g.117592468G>CCA368980921CFTRc.2301G>C (p.Gln767His)
c.*2015G>C (n.*2015G>C)
c.2118G>C (p.Gln706His)
c.*601G>C (n.*601G>C)
c.*2125G>C (n.*2125G>C)
c.1875G>C (p.Gln625His)
c.1402-10358G>C (n.1402-10358G>C)
c.2211G>C (p.Gln737His)
c.2391G>C (p.Gln797His)
c.2058G>C (p.Gln686His)
 dbSNP gnomAD v2
7g.117592468G=CA1737395236CFTRc.2301G= (p.Gln767=)
c.*2015G= (n.*2015G=)
c.2118G= (p.Gln706=)
c.*601G= (n.*601G=)
c.*2125G= (n.*2125G=)
c.1875G= (p.Gln625=)
c.1402-10358G= (n.1402-10358G=)
c.2211G= (p.Gln737=)
c.2391G= (p.Gln797=)
c.2058G= (p.Gln686=)
7g.117592468G>TCA368980923CFTRc.2301G>T (p.Gln767His)
c.*2015G>T (n.*2015G>T)
c.2118G>T (p.Gln706His)
c.*601G>T (n.*601G>T)
c.*2125G>T (n.*2125G>T)
c.1875G>T (p.Gln625His)
c.1402-10358G>T (n.1402-10358G>T)
c.2211G>T (p.Gln737His)
c.2391G>T (p.Gln797His)
c.2058G>T (p.Gln686His)
7g.117592469T>ACA368980929CFTRc.2302T>A (p.Ser768Thr)
c.*2016T>A (n.*2016T>A)
c.2119T>A (p.Ser707Thr)
c.*602T>A (n.*602T>A)
c.*2126T>A (n.*2126T>A)
c.1876T>A (p.Ser626Thr)
c.1402-10357T>A (n.1402-10357T>A)
c.2212T>A (p.Ser738Thr)
c.2392T>A (p.Ser798Thr)
c.2059T>A (p.Ser687Thr)
 gnomAD v4
7g.117592469T>CCA368980931CFTRc.2302T>C (p.Ser768Pro)
c.*2016T>C (n.*2016T>C)
c.2119T>C (p.Ser707Pro)
c.*602T>C (n.*602T>C)
c.*2126T>C (n.*2126T>C)
c.1876T>C (p.Ser626Pro)
c.1402-10357T>C (n.1402-10357T>C)
c.2212T>C (p.Ser738Pro)
c.2392T>C (p.Ser798Pro)
c.2059T>C (p.Ser687Pro)
7g.117592469T>GCA368980927CFTRc.2302T>G (p.Ser768Ala)
c.*2016T>G (n.*2016T>G)
c.2119T>G (p.Ser707Ala)
c.*602T>G (n.*602T>G)
c.*2126T>G (n.*2126T>G)
c.1876T>G (p.Ser626Ala)
c.1402-10357T>G (n.1402-10357T>G)
c.2212T>G (p.Ser738Ala)
c.2392T>G (p.Ser798Ala)
c.2059T>G (p.Ser687Ala)
7g.117592470C>ACA368980935CFTRc.2303C>A (p.Ser768Tyr)
c.*2017C>A (n.*2017C>A)
c.2120C>A (p.Ser707Tyr)
c.*603C>A (n.*603C>A)
c.*2127C>A (n.*2127C>A)
c.1877C>A (p.Ser626Tyr)
c.1402-10356C>A (n.1402-10356C>A)
c.2213C>A (p.Ser738Tyr)
c.2393C>A (p.Ser798Tyr)
c.2060C>A (p.Ser687Tyr)
7g.117592470C=CA1737395241CFTRc.2303C= (p.Ser768=)
c.*2017C= (n.*2017C=)
c.2120C= (p.Ser707=)
c.*603C= (n.*603C=)
c.*2127C= (n.*2127C=)
c.1877C= (p.Ser626=)
c.1402-10356C= (n.1402-10356C=)
c.2213C= (p.Ser738=)
c.2393C= (p.Ser798=)
c.2060C= (p.Ser687=)
7g.117592470C>GCA368980933CFTRc.2303C>G (p.Ser768Cys)
c.*2017C>G (n.*2017C>G)
c.2120C>G (p.Ser707Cys)
c.*603C>G (n.*603C>G)
c.*2127C>G (n.*2127C>G)
c.1877C>G (p.Ser626Cys)
c.1402-10356C>G (n.1402-10356C>G)
c.2213C>G (p.Ser738Cys)
c.2393C>G (p.Ser798Cys)
c.2060C>G (p.Ser687Cys)
7g.117592470C>TCA368980934CFTRc.2303C>T (p.Ser768Phe)
c.*2017C>T (n.*2017C>T)
c.2120C>T (p.Ser707Phe)
c.*603C>T (n.*603C>T)
c.*2127C>T (n.*2127C>T)
c.1877C>T (p.Ser626Phe)
c.1402-10356C>T (n.1402-10356C>T)
c.2213C>T (p.Ser738Phe)
c.2393C>T (p.Ser798Phe)
c.2060C>T (p.Ser687Phe)
 dbSNP gnomAD v2 gnomAD v4
7g.117592471T>ACA457449696CFTRc.2304T>A (p.Ser768=)
c.*2018T>A (n.*2018T>A)
c.2121T>A (p.Ser707=)
c.*604T>A (n.*604T>A)
c.*2128T>A (n.*2128T>A)
c.1878T>A (p.Ser626=)
c.1402-10355T>A (n.1402-10355T>A)
c.2214T>A (p.Ser738=)
c.2394T>A (p.Ser798=)
c.2061T>A (p.Ser687=)
7g.117592471T>CCA457449692CFTRc.2304T>C (p.Ser768=)
c.*2018T>C (n.*2018T>C)
c.2121T>C (p.Ser707=)
c.*604T>C (n.*604T>C)
c.*2128T>C (n.*2128T>C)
c.1878T>C (p.Ser626=)
c.1402-10355T>C (n.1402-10355T>C)
c.2214T>C (p.Ser738=)
c.2394T>C (p.Ser798=)
c.2061T>C (p.Ser687=)
 gnomAD v4
7g.117592471T>GCA457449695CFTRc.2304T>G (p.Ser768=)
c.*2018T>G (n.*2018T>G)
c.2121T>G (p.Ser707=)
c.*604T>G (n.*604T>G)
c.*2128T>G (n.*2128T>G)
c.1878T>G (p.Ser626=)
c.1402-10355T>G (n.1402-10355T>G)
c.2214T>G (p.Ser738=)
c.2394T>G (p.Ser798=)
c.2061T>G (p.Ser687=)
7g.117592472G>ACA368980936CFTRc.2305G>A (p.Val769Ile)
c.*2019G>A (n.*2019G>A)
c.2122G>A (p.Val708Ile)
c.*605G>A (n.*605G>A)
c.*2129G>A (n.*2129G>A)
c.1879G>A (p.Val627Ile)
c.1402-10354G>A (n.1402-10354G>A)
c.2215G>A (p.Val739Ile)
c.2395G>A (p.Val799Ile)
c.2062G>A (p.Val688Ile)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.117592472G>CCA368980937CFTRc.2305G>C (p.Val769Leu)
c.*2019G>C (n.*2019G>C)
c.2122G>C (p.Val708Leu)
c.*605G>C (n.*605G>C)
c.*2129G>C (n.*2129G>C)
c.1879G>C (p.Val627Leu)
c.1402-10354G>C (n.1402-10354G>C)
c.2215G>C (p.Val739Leu)
c.2395G>C (p.Val799Leu)
c.2062G>C (p.Val688Leu)
7g.117592472G=CA1737395247CFTRc.2305G= (p.Val769=)
c.*2019G= (n.*2019G=)
c.2122G= (p.Val708=)
c.*605G= (n.*605G=)
c.*2129G= (n.*2129G=)
c.1879G= (p.Val627=)
c.1402-10354G= (n.1402-10354G=)
c.2215G= (p.Val739=)
c.2395G= (p.Val799=)
c.2062G= (p.Val688=)
7g.117592472G>TCA368980938CFTRc.2305G>T (p.Val769Phe)
c.*2019G>T (n.*2019G>T)
c.2122G>T (p.Val708Phe)
c.*605G>T (n.*605G>T)
c.*2129G>T (n.*2129G>T)
c.1879G>T (p.Val627Phe)
c.1402-10354G>T (n.1402-10354G>T)
c.2215G>T (p.Val739Phe)
c.2395G>T (p.Val799Phe)
c.2062G>T (p.Val688Phe)
7g.117592473T>ACA368980939CFTRc.2306T>A (p.Val769Asp)
c.*2020T>A (n.*2020T>A)
c.2123T>A (p.Val708Asp)
c.*606T>A (n.*606T>A)
c.*2130T>A (n.*2130T>A)
c.1880T>A (p.Val627Asp)
c.1402-10353T>A (n.1402-10353T>A)
c.2216T>A (p.Val739Asp)
c.2396T>A (p.Val799Asp)
c.2063T>A (p.Val688Asp)
7g.117592473T>CCA368980940CFTRc.2306T>C (p.Val769Ala)
c.*2020T>C (n.*2020T>C)
c.2123T>C (p.Val708Ala)
c.*606T>C (n.*606T>C)
c.*2130T>C (n.*2130T>C)
c.1880T>C (p.Val627Ala)
c.1402-10353T>C (n.1402-10353T>C)
c.2216T>C (p.Val739Ala)
c.2396T>C (p.Val799Ala)
c.2063T>C (p.Val688Ala)
7g.117592473T>GCA368980941CFTRc.2306T>G (p.Val769Gly)
c.*2020T>G (n.*2020T>G)
c.2123T>G (p.Val708Gly)
c.*606T>G (n.*606T>G)
c.*2130T>G (n.*2130T>G)
c.1880T>G (p.Val627Gly)
c.1402-10353T>G (n.1402-10353T>G)
c.2216T>G (p.Val739Gly)
c.2396T>G (p.Val799Gly)
c.2063T>G (p.Val688Gly)
7g.117592474C>ACA457449701CFTRc.2307C>A (p.Val769=)
c.*2021C>A (n.*2021C>A)
c.2124C>A (p.Val708=)
c.*607C>A (n.*607C>A)
c.*2131C>A (n.*2131C>A)
c.1881C>A (p.Val627=)
c.1402-10352C>A (n.1402-10352C>A)
c.2217C>A (p.Val739=)
c.2397C>A (p.Val799=)
c.2064C>A (p.Val688=)
 gnomAD v4
7g.117592474C=CA1737395249CFTRc.2307C= (p.Val769=)
c.*2021C= (n.*2021C=)
c.2124C= (p.Val708=)
c.*607C= (n.*607C=)
c.*2131C= (n.*2131C=)
c.1881C= (p.Val627=)
c.1402-10352C= (n.1402-10352C=)
c.2217C= (p.Val739=)
c.2397C= (p.Val799=)
c.2064C= (p.Val688=)
7g.117592474C>GCA457449705CFTRc.2307C>G (p.Val769=)
c.*2021C>G (n.*2021C>G)
c.2124C>G (p.Val708=)
c.*607C>G (n.*607C>G)
c.*2131C>G (n.*2131C>G)
c.1881C>G (p.Val627=)
c.1402-10352C>G (n.1402-10352C>G)
c.2217C>G (p.Val739=)
c.2397C>G (p.Val799=)
c.2064C>G (p.Val688=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.117592474C>TCA457449703CFTRc.2307C>T (p.Val769=)
c.*2021C>T (n.*2021C>T)
c.2124C>T (p.Val708=)
c.*607C>T (n.*607C>T)
c.*2131C>T (n.*2131C>T)
c.1881C>T (p.Val627=)
c.1402-10352C>T (n.1402-10352C>T)
c.2217C>T (p.Val739=)
c.2397C>T (p.Val799=)
c.2064C>T (p.Val688=)
 dbSNP
7g.117592475C>ACA368980942CFTRc.2308C>A (p.Leu770Met)
c.*2022C>A (n.*2022C>A)
c.2125C>A (p.Leu709Met)
c.*608C>A (n.*608C>A)
c.*2132C>A (n.*2132C>A)
c.1882C>A (p.Leu628Met)
c.1402-10351C>A (n.1402-10351C>A)
c.2218C>A (p.Leu740Met)
c.2398C>A (p.Leu800Met)
c.2065C>A (p.Leu689Met)
7g.117592475C>GCA368980943CFTRc.2308C>G (p.Leu770Val)
c.*2022C>G (n.*2022C>G)
c.2125C>G (p.Leu709Val)
c.*608C>G (n.*608C>G)
c.*2132C>G (n.*2132C>G)
c.1882C>G (p.Leu628Val)
c.1402-10351C>G (n.1402-10351C>G)
c.2218C>G (p.Leu740Val)
c.2398C>G (p.Leu800Val)
c.2065C>G (p.Leu689Val)
7g.117592475C>TCA457449709CFTRc.2308C>T (p.Leu770=)
c.*2022C>T (n.*2022C>T)
c.2125C>T (p.Leu709=)
c.*608C>T (n.*608C>T)
c.*2132C>T (n.*2132C>T)
c.1882C>T (p.Leu628=)
c.1402-10351C>T (n.1402-10351C>T)
c.2218C>T (p.Leu740=)
c.2398C>T (p.Leu800=)
c.2065C>T (p.Leu689=)
7g.117592476T>ACA368980944CFTRc.2309T>A (p.Leu770Gln)
c.*2023T>A (n.*2023T>A)
c.2126T>A (p.Leu709Gln)
c.*609T>A (n.*609T>A)
c.*2133T>A (n.*2133T>A)
c.1883T>A (p.Leu628Gln)
c.1402-10350T>A (n.1402-10350T>A)
c.2219T>A (p.Leu740Gln)
c.2399T>A (p.Leu800Gln)
c.2066T>A (p.Leu689Gln)
7g.117592476T>CCA368980945CFTRc.2309T>C (p.Leu770Pro)
c.*2023T>C (n.*2023T>C)
c.2126T>C (p.Leu709Pro)
c.*609T>C (n.*609T>C)
c.*2133T>C (n.*2133T>C)
c.1883T>C (p.Leu628Pro)
c.1402-10350T>C (n.1402-10350T>C)
c.2219T>C (p.Leu740Pro)
c.2399T>C (p.Leu800Pro)
c.2066T>C (p.Leu689Pro)
7g.117592476T>GCA368980946CFTRc.2309T>G (p.Leu770Arg)
c.*2023T>G (n.*2023T>G)
c.2126T>G (p.Leu709Arg)
c.*609T>G (n.*609T>G)
c.*2133T>G (n.*2133T>G)
c.1883T>G (p.Leu628Arg)
c.1402-10350T>G (n.1402-10350T>G)
c.2219T>G (p.Leu740Arg)
c.2399T>G (p.Leu800Arg)
c.2066T>G (p.Leu689Arg)
7g.117592477G>ACA457449710CFTRc.2310G>A (p.Leu770=)
c.*2024G>A (n.*2024G>A)
c.2127G>A (p.Leu709=)
c.*610G>A (n.*610G>A)
c.*2134G>A (n.*2134G>A)
c.1884G>A (p.Leu628=)
c.1402-10349G>A (n.1402-10349G>A)
c.2220G>A (p.Leu740=)
c.2400G>A (p.Leu800=)
c.2067G>A (p.Leu689=)
7g.117592477G>CCA457449712CFTRc.2310G>C (p.Leu770=)
c.*2024G>C (n.*2024G>C)
c.2127G>C (p.Leu709=)
c.*610G>C (n.*610G>C)
c.*2134G>C (n.*2134G>C)
c.1884G>C (p.Leu628=)
c.1402-10349G>C (n.1402-10349G>C)
c.2220G>C (p.Leu740=)
c.2400G>C (p.Leu800=)
c.2067G>C (p.Leu689=)
7g.117592477G>TCA457449715CFTRc.2310G>T (p.Leu770=)
c.*2024G>T (n.*2024G>T)
c.2127G>T (p.Leu709=)
c.*610G>T (n.*610G>T)
c.*2134G>T (n.*2134G>T)
c.1884G>T (p.Leu628=)
c.1402-10349G>T (n.1402-10349G>T)
c.2220G>T (p.Leu740=)
c.2400G>T (p.Leu800=)
c.2067G>T (p.Leu689=)
 ClinVar
7g.117592478A>CCA368980949CFTRc.2311A>C (p.Asn771His)
c.*2025A>C (n.*2025A>C)
c.2128A>C (p.Asn710His)
c.*611A>C (n.*611A>C)
c.*2135A>C (n.*2135A>C)
c.1885A>C (p.Asn629His)
c.1402-10348A>C (n.1402-10348A>C)
c.2221A>C (p.Asn741His)
c.2401A>C (p.Asn801His)
c.2068A>C (p.Asn690His)
7g.117592478A>GCA368980947CFTRc.2311A>G (p.Asn771Asp)
c.*2025A>G (n.*2025A>G)
c.2128A>G (p.Asn710Asp)
c.*611A>G (n.*611A>G)
c.*2135A>G (n.*2135A>G)
c.1885A>G (p.Asn629Asp)
c.1402-10348A>G (n.1402-10348A>G)
c.2221A>G (p.Asn741Asp)
c.2401A>G (p.Asn801Asp)
c.2068A>G (p.Asn690Asp)
7g.117592478A>TCA368980948CFTRc.2311A>T (p.Asn771Tyr)
c.*2025A>T (n.*2025A>T)
c.2128A>T (p.Asn710Tyr)
c.*611A>T (n.*611A>T)
c.*2135A>T (n.*2135A>T)
c.1885A>T (p.Asn629Tyr)
c.1402-10348A>T (n.1402-10348A>T)
c.2221A>T (p.Asn741Tyr)
c.2401A>T (p.Asn801Tyr)
c.2068A>T (p.Asn690Tyr)
7g.117592479delCA2695208516CFTRc.2312del (p.Asn771ThrfsTer2)
c.*2026del (n.*2026del)
c.2129del (p.Asn710ThrfsTer2)
c.*612del (n.*612del)
c.*2136del (n.*2136del)
c.1886del (p.Asn629ThrfsTer2)
c.1402-10347del (n.1402-10347del)
c.2222del (p.Asn741ThrfsTer2)
c.2402del (p.Asn801ThrfsTer2)
c.2069del (p.Asn690ThrfsTer2)
7g.117592479A>CCA368980950CFTRc.2312A>C (p.Asn771Thr)
c.*2026A>C (n.*2026A>C)
c.2129A>C (p.Asn710Thr)
c.*612A>C (n.*612A>C)
c.*2136A>C (n.*2136A>C)
c.1886A>C (p.Asn629Thr)
c.1402-10347A>C (n.1402-10347A>C)
c.2222A>C (p.Asn741Thr)
c.2402A>C (p.Asn801Thr)
c.2069A>C (p.Asn690Thr)
7g.117592479A>GCA368980951CFTRc.2312A>G (p.Asn771Ser)
c.*2026A>G (n.*2026A>G)
c.2129A>G (p.Asn710Ser)
c.*612A>G (n.*612A>G)
c.*2136A>G (n.*2136A>G)
c.1886A>G (p.Asn629Ser)
c.1402-10347A>G (n.1402-10347A>G)
c.2222A>G (p.Asn741Ser)
c.2402A>G (p.Asn801Ser)
c.2069A>G (p.Asn690Ser)
 ClinVar gnomAD v4
7g.117592479A>TCA368980952CFTRc.2312A>T (p.Asn771Ile)
c.*2026A>T (n.*2026A>T)
c.2129A>T (p.Asn710Ile)
c.*612A>T (n.*612A>T)
c.*2136A>T (n.*2136A>T)
c.1886A>T (p.Asn629Ile)
c.1402-10347A>T (n.1402-10347A>T)
c.2222A>T (p.Asn741Ile)
c.2402A>T (p.Asn801Ile)
c.2069A>T (p.Asn690Ile)
7g.117592480C>ACA368980953CFTRc.2313C>A (p.Asn771Lys)
c.*2027C>A (n.*2027C>A)
c.2130C>A (p.Asn710Lys)
c.*613C>A (n.*613C>A)
c.*2137C>A (n.*2137C>A)
c.1887C>A (p.Asn629Lys)
c.1402-10346C>A (n.1402-10346C>A)
c.2223C>A (p.Asn741Lys)
c.2403C>A (p.Asn801Lys)
c.2070C>A (p.Asn690Lys)
7g.117592480C=CA1737395254CFTRc.2313C= (p.Asn771=)
c.*2027C= (n.*2027C=)
c.2130C= (p.Asn710=)
c.*613C= (n.*613C=)
c.*2137C= (n.*2137C=)
c.1887C= (p.Asn629=)
c.1402-10346C= (n.1402-10346C=)
c.2223C= (p.Asn741=)
c.2403C= (p.Asn801=)
c.2070C= (p.Asn690=)
7g.117592480C>GCA368980954CFTRc.2313C>G (p.Asn771Lys)
c.*2027C>G (n.*2027C>G)
c.2130C>G (p.Asn710Lys)
c.*613C>G (n.*613C>G)
c.*2137C>G (n.*2137C>G)
c.1887C>G (p.Asn629Lys)
c.1402-10346C>G (n.1402-10346C>G)
c.2223C>G (p.Asn741Lys)
c.2403C>G (p.Asn801Lys)
c.2070C>G (p.Asn690Lys)
7g.117592480C>TCA4451169CFTRc.2313C>T (p.Asn771=)
c.*2027C>T (n.*2027C>T)
c.2130C>T (p.Asn710=)
c.*613C>T (n.*613C>T)
c.*2137C>T (n.*2137C>T)
c.1887C>T (p.Asn629=)
c.1402-10346C>T (n.1402-10346C>T)
c.2223C>T (p.Asn741=)
c.2403C>T (p.Asn801=)
c.2070C>T (p.Asn690=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.117592481C>ACA368980955CFTRc.2314C>A (p.Leu772Met)
c.*2028C>A (n.*2028C>A)
c.2131C>A (p.Leu711Met)
c.*614C>A (n.*614C>A)
c.*2138C>A (n.*2138C>A)
c.1888C>A (p.Leu630Met)
c.1402-10345C>A (n.1402-10345C>A)
c.2224C>A (p.Leu742Met)
c.2404C>A (p.Leu802Met)
c.2071C>A (p.Leu691Met)
7g.117592481C>GCA368980956CFTRc.2314C>G (p.Leu772Val)
c.*2028C>G (n.*2028C>G)
c.2131C>G (p.Leu711Val)
c.*614C>G (n.*614C>G)
c.*2138C>G (n.*2138C>G)
c.1888C>G (p.Leu630Val)
c.1402-10345C>G (n.1402-10345C>G)
c.2224C>G (p.Leu742Val)
c.2404C>G (p.Leu802Val)
c.2071C>G (p.Leu691Val)
7g.117592481C>TCA457449724CFTRc.2314C>T (p.Leu772=)
c.*2028C>T (n.*2028C>T)
c.2131C>T (p.Leu711=)
c.*614C>T (n.*614C>T)
c.*2138C>T (n.*2138C>T)
c.1888C>T (p.Leu630=)
c.1402-10345C>T (n.1402-10345C>T)
c.2224C>T (p.Leu742=)
c.2404C>T (p.Leu802=)
c.2071C>T (p.Leu691=)
7g.117592482T>ACA368980957CFTRc.2315T>A (p.Leu772Gln)
c.*2029T>A (n.*2029T>A)
c.2132T>A (p.Leu711Gln)
c.*615T>A (n.*615T>A)
c.*2139T>A (n.*2139T>A)
c.1889T>A (p.Leu630Gln)
c.1402-10344T>A (n.1402-10344T>A)
c.2225T>A (p.Leu742Gln)
c.2405T>A (p.Leu802Gln)
c.2072T>A (p.Leu691Gln)
7g.117592482T>CCA368980958CFTRc.2315T>C (p.Leu772Pro)
c.*2029T>C (n.*2029T>C)
c.2132T>C (p.Leu711Pro)
c.*615T>C (n.*615T>C)
c.*2139T>C (n.*2139T>C)
c.1889T>C (p.Leu630Pro)
c.1402-10344T>C (n.1402-10344T>C)
c.2225T>C (p.Leu742Pro)
c.2405T>C (p.Leu802Pro)
c.2072T>C (p.Leu691Pro)
 gnomAD v4
7g.117592482T>GCA368980959CFTRc.2315T>G (p.Leu772Arg)
c.*2029T>G (n.*2029T>G)
c.2132T>G (p.Leu711Arg)
c.*615T>G (n.*615T>G)
c.*2139T>G (n.*2139T>G)
c.1889T>G (p.Leu630Arg)
c.1402-10344T>G (n.1402-10344T>G)
c.2225T>G (p.Leu742Arg)
c.2405T>G (p.Leu802Arg)
c.2072T>G (p.Leu691Arg)
7g.117592483G>ACA457449727CFTRc.2316G>A (p.Leu772=)
c.*2030G>A (n.*2030G>A)
c.2133G>A (p.Leu711=)
c.*616G>A (n.*616G>A)
c.*2140G>A (n.*2140G>A)
c.1890G>A (p.Leu630=)
c.1402-10343G>A (n.1402-10343G>A)
c.2226G>A (p.Leu742=)
c.2406G>A (p.Leu802=)
c.2073G>A (p.Leu691=)
7g.117592483G>CCA457449730CFTRc.2316G>C (p.Leu772=)
c.*2030G>C (n.*2030G>C)
c.2133G>C (p.Leu711=)
c.*616G>C (n.*616G>C)
c.*2140G>C (n.*2140G>C)
c.1890G>C (p.Leu630=)
c.1402-10343G>C (n.1402-10343G>C)
c.2226G>C (p.Leu742=)
c.2406G>C (p.Leu802=)
c.2073G>C (p.Leu691=)
7g.117592483G>TCA457449733CFTRc.2316G>T (p.Leu772=)
c.*2030G>T (n.*2030G>T)
c.2133G>T (p.Leu711=)
c.*616G>T (n.*616G>T)
c.*2140G>T (n.*2140G>T)
c.1890G>T (p.Leu630=)
c.1402-10343G>T (n.1402-10343G>T)
c.2226G>T (p.Leu742=)
c.2406G>T (p.Leu802=)
c.2073G>T (p.Leu691=)
7g.117592484A>CCA368980962CFTRc.2317A>C (p.Met773Leu)
c.*2031A>C (n.*2031A>C)
c.2134A>C (p.Met712Leu)
c.*617A>C (n.*617A>C)
c.*2141A>C (n.*2141A>C)
c.1891A>C (p.Met631Leu)
c.1402-10342A>C (n.1402-10342A>C)
c.2227A>C (p.Met743Leu)
c.2407A>C (p.Met803Leu)
c.2074A>C (p.Met692Leu)
7g.117592484A>GCA368980961CFTRc.2317A>G (p.Met773Val)
c.*2031A>G (n.*2031A>G)
c.2134A>G (p.Met712Val)
c.*617A>G (n.*617A>G)
c.*2141A>G (n.*2141A>G)
c.1891A>G (p.Met631Val)
c.1402-10342A>G (n.1402-10342A>G)
c.2227A>G (p.Met743Val)
c.2407A>G (p.Met803Val)
c.2074A>G (p.Met692Val)
7g.117592484A>TCA368980960CFTRc.2317A>T (p.Met773Leu)
c.*2031A>T (n.*2031A>T)
c.2134A>T (p.Met712Leu)
c.*617A>T (n.*617A>T)
c.*2141A>T (n.*2141A>T)
c.1891A>T (p.Met631Leu)
c.1402-10342A>T (n.1402-10342A>T)
c.2227A>T (p.Met743Leu)
c.2407A>T (p.Met803Leu)
c.2074A>T (p.Met692Leu)
7g.117592485T>ACA368980963CFTRc.2318T>A (p.Met773Lys)
c.*2032T>A (n.*2032T>A)
c.2135T>A (p.Met712Lys)
c.*618T>A (n.*618T>A)
c.*2142T>A (n.*2142T>A)
c.1892T>A (p.Met631Lys)
c.1402-10341T>A (n.1402-10341T>A)
c.2228T>A (p.Met743Lys)
c.2408T>A (p.Met803Lys)
c.2075T>A (p.Met692Lys)
7g.117592485T>CCA368980964CFTRc.2318T>C (p.Met773Thr)
c.*2032T>C (n.*2032T>C)
c.2135T>C (p.Met712Thr)
c.*618T>C (n.*618T>C)
c.*2142T>C (n.*2142T>C)
c.1892T>C (p.Met631Thr)
c.1402-10341T>C (n.1402-10341T>C)
c.2228T>C (p.Met743Thr)
c.2408T>C (p.Met803Thr)
c.2075T>C (p.Met692Thr)
7g.117592485T>GCA368980965CFTRc.2318T>G (p.Met773Arg)
c.*2032T>G (n.*2032T>G)
c.2135T>G (p.Met712Arg)
c.*618T>G (n.*618T>G)
c.*2142T>G (n.*2142T>G)
c.1892T>G (p.Met631Arg)
c.1402-10341T>G (n.1402-10341T>G)
c.2228T>G (p.Met743Arg)
c.2408T>G (p.Met803Arg)
c.2075T>G (p.Met692Arg)
7g.117592486G>ACA368980966CFTRc.2319G>A (p.Met773Ile)
c.*2033G>A (n.*2033G>A)
c.2136G>A (p.Met712Ile)
c.*619G>A (n.*619G>A)
c.*2143G>A (n.*2143G>A)
c.1893G>A (p.Met631Ile)
c.1402-10340G>A (n.1402-10340G>A)
c.2229G>A (p.Met743Ile)
c.2409G>A (p.Met803Ile)
c.2076G>A (p.Met692Ile)
7g.117592486G>CCA368980967CFTRc.2319G>C (p.Met773Ile)
c.*2033G>C (n.*2033G>C)
c.2136G>C (p.Met712Ile)
c.*619G>C (n.*619G>C)
c.*2143G>C (n.*2143G>C)
c.1893G>C (p.Met631Ile)
c.1402-10340G>C (n.1402-10340G>C)
c.2229G>C (p.Met743Ile)
c.2409G>C (p.Met803Ile)
c.2076G>C (p.Met692Ile)
7g.117592486G>TCA368980968CFTRc.2319G>T (p.Met773Ile)
c.*2033G>T (n.*2033G>T)
c.2136G>T (p.Met712Ile)
c.*619G>T (n.*619G>T)
c.*2143G>T (n.*2143G>T)
c.1893G>T (p.Met631Ile)
c.1402-10340G>T (n.1402-10340G>T)
c.2229G>T (p.Met743Ile)
c.2409G>T (p.Met803Ile)
c.2076G>T (p.Met692Ile)
7g.117592486_117592488delinsGACCA1737395261CFTRc.2319_2321delinsGAC (p.Met773=)
c.*2033_*2035delinsGAC (n.*2033_*2035delinsGAC)
c.2136_2138delinsGAC (p.Met712=)
c.*619_*621delinsGAC (n.*619_*621delinsGAC)
c.*2143_*2145delinsGAC (n.*2143_*2145delinsGAC)
c.1893_1895delinsGAC (p.Met631=)
c.1402-10340_1402-10338delinsGAC (n.1402-10340_1402-10338delinsGAC)
c.2229_2231delinsGAC (p.Met743=)
c.2409_2411delinsGAC (p.Met803=)
c.2076_2078delinsGAC (p.Met692=)
7g.117592487A>CCA368980969CFTRc.2320A>C (p.Thr774Pro)
c.*2034A>C (n.*2034A>C)
c.2137A>C (p.Thr713Pro)
c.*620A>C (n.*620A>C)
c.*2144A>C (n.*2144A>C)
c.1894A>C (p.Thr632Pro)
c.1402-10339A>C (n.1402-10339A>C)
c.2230A>C (p.Thr744Pro)
c.2410A>C (p.Thr804Pro)
c.2077A>C (p.Thr693Pro)
7g.117592487A>GCA368980970CFTRc.2320A>G (p.Thr774Ala)
c.*2034A>G (n.*2034A>G)
c.2137A>G (p.Thr713Ala)
c.*620A>G (n.*620A>G)
c.*2144A>G (n.*2144A>G)
c.1894A>G (p.Thr632Ala)
c.1402-10339A>G (n.1402-10339A>G)
c.2230A>G (p.Thr744Ala)
c.2410A>G (p.Thr804Ala)
c.2077A>G (p.Thr693Ala)
7g.117592487A>TCA368980971CFTRc.2320A>T (p.Thr774Ser)
c.*2034A>T (n.*2034A>T)
c.2137A>T (p.Thr713Ser)
c.*620A>T (n.*620A>T)
c.*2144A>T (n.*2144A>T)
c.1894A>T (p.Thr632Ser)
c.1402-10339A>T (n.1402-10339A>T)
c.2230A>T (p.Thr744Ser)
c.2410A>T (p.Thr804Ser)
c.2077A>T (p.Thr693Ser)
7g.117592491_117592492delCA326791CFTRc.2324_2325del (p.His775LeufsTer3)
c.*2038_*2039del (n.*2038_*2039del)
c.2141_2142del (p.His714LeufsTer3)
c.*624_*625del (n.*624_*625del)
c.*2148_*2149del (n.*2148_*2149del)
c.1898_1899del (p.His633LeufsTer3)
c.1402-10335_1402-10334del (n.1402-10335_1402-10334del)
c.2234_2235del (p.His745LeufsTer3)
c.2414_2415del (p.His805LeufsTer3)
c.2081_2082del (p.His694LeufsTer3)
 ClinVar dbSNP
7g.117592488C>ACA368980972CFTRc.2321C>A (p.Thr774Lys)
c.*2035C>A (n.*2035C>A)
c.2138C>A (p.Thr713Lys)
c.*621C>A (n.*621C>A)
c.*2145C>A (n.*2145C>A)
c.1895C>A (p.Thr632Lys)
c.1402-10338C>A (n.1402-10338C>A)
c.2231C>A (p.Thr744Lys)
c.2411C>A (p.Thr804Lys)
c.2078C>A (p.Thr693Lys)
 gnomAD v4
7g.117592488C>GCA368980973CFTRc.2321C>G (p.Thr774Arg)
c.*2035C>G (n.*2035C>G)
c.2138C>G (p.Thr713Arg)
c.*621C>G (n.*621C>G)
c.*2145C>G (n.*2145C>G)
c.1895C>G (p.Thr632Arg)
c.1402-10338C>G (n.1402-10338C>G)
c.2231C>G (p.Thr744Arg)
c.2411C>G (p.Thr804Arg)
c.2078C>G (p.Thr693Arg)
 ClinVar
7g.117592488C>TCA368980974CFTRc.2321C>T (p.Thr774Ile)
c.*2035C>T (n.*2035C>T)
c.2138C>T (p.Thr713Ile)
c.*621C>T (n.*621C>T)
c.*2145C>T (n.*2145C>T)
c.1895C>T (p.Thr632Ile)
c.1402-10338C>T (n.1402-10338C>T)
c.2231C>T (p.Thr744Ile)
c.2411C>T (p.Thr804Ile)
c.2078C>T (p.Thr693Ile)
7g.117592489A=CA1737395270CFTRc.2322A= (p.Thr774=)
c.*2036A= (n.*2036A=)
c.2139A= (p.Thr713=)
c.*622A= (n.*622A=)
c.*2146A= (n.*2146A=)
c.1896A= (p.Thr632=)
c.1402-10337A= (n.1402-10337A=)
c.2232A= (p.Thr744=)
c.2412A= (p.Thr804=)
c.2079A= (p.Thr693=)
7g.117592489A>CCA457449748CFTRc.2322A>C (p.Thr774=)
c.*2036A>C (n.*2036A>C)
c.2139A>C (p.Thr713=)
c.*622A>C (n.*622A>C)
c.*2146A>C (n.*2146A>C)
c.1896A>C (p.Thr632=)
c.1402-10337A>C (n.1402-10337A>C)
c.2232A>C (p.Thr744=)
c.2412A>C (p.Thr804=)
c.2079A>C (p.Thr693=)
7g.117592489A>GCA457449747CFTRc.2322A>G (p.Thr774=)
c.*2036A>G (n.*2036A>G)
c.2139A>G (p.Thr713=)
c.*622A>G (n.*622A>G)
c.*2146A>G (n.*2146A>G)
c.1896A>G (p.Thr632=)
c.1402-10337A>G (n.1402-10337A>G)
c.2232A>G (p.Thr744=)
c.2412A>G (p.Thr804=)
c.2079A>G (p.Thr693=)
 ClinVar
7g.117592489A>TCA4451170CFTRc.2322A>T (p.Thr774=)
c.*2036A>T (n.*2036A>T)
c.2139A>T (p.Thr713=)
c.*622A>T (n.*622A>T)
c.*2146A>T (n.*2146A>T)
c.1896A>T (p.Thr632=)
c.1402-10337A>T (n.1402-10337A>T)
c.2232A>T (p.Thr744=)
c.2412A>T (p.Thr804=)
c.2079A>T (p.Thr693=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.117592490C>ACA368980976CFTRc.2323C>A (p.His775Asn)
c.*2037C>A (n.*2037C>A)
c.2140C>A (p.His714Asn)
c.*623C>A (n.*623C>A)
c.*2147C>A (n.*2147C>A)
c.1897C>A (p.His633Asn)
c.1402-10336C>A (n.1402-10336C>A)
c.2233C>A (p.His745Asn)
c.2413C>A (p.His805Asn)
c.2080C>A (p.His694Asn)
7g.117592490C=CA1737395276CFTRc.2323C= (p.His775=)
c.*2037C= (n.*2037C=)
c.2140C= (p.His714=)
c.*623C= (n.*623C=)
c.*2147C= (n.*2147C=)
c.1897C= (p.His633=)
c.1402-10336C= (n.1402-10336C=)
c.2233C= (p.His745=)
c.2413C= (p.His805=)
c.2080C= (p.His694=)
7g.117592490C>GCA368980975CFTRc.2323C>G (p.His775Asp)
c.*2037C>G (n.*2037C>G)
c.2140C>G (p.His714Asp)
c.*623C>G (n.*623C>G)
c.*2147C>G (n.*2147C>G)
c.1897C>G (p.His633Asp)
c.1402-10336C>G (n.1402-10336C>G)
c.2233C>G (p.His745Asp)
c.2413C>G (p.His805Asp)
c.2080C>G (p.His694Asp)
7g.117592490C>TCA4451171CFTRc.2323C>T (p.His775Tyr)
c.*2037C>T (n.*2037C>T)
c.2140C>T (p.His714Tyr)
c.*623C>T (n.*623C>T)
c.*2147C>T (n.*2147C>T)
c.1897C>T (p.His633Tyr)
c.1402-10336C>T (n.1402-10336C>T)
c.2233C>T (p.His745Tyr)
c.2413C>T (p.His805Tyr)
c.2080C>T (p.His694Tyr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
7g.117592491A=CA1737395280CFTRc.2324A= (p.His775=)
c.*2038A= (n.*2038A=)
c.2141A= (p.His714=)
c.*624A= (n.*624A=)
c.*2148A= (n.*2148A=)
c.1898A= (p.His633=)
c.1402-10335A= (n.1402-10335A=)
c.2234A= (p.His745=)
c.2414A= (p.His805=)
c.2081A= (p.His694=)
7g.117592491A>CCA368980977CFTRc.2324A>C (p.His775Pro)
c.*2038A>C (n.*2038A>C)
c.2141A>C (p.His714Pro)
c.*624A>C (n.*624A>C)
c.*2148A>C (n.*2148A>C)
c.1898A>C (p.His633Pro)
c.1402-10335A>C (n.1402-10335A>C)
c.2234A>C (p.His745Pro)
c.2414A>C (p.His805Pro)
c.2081A>C (p.His694Pro)
7g.117592491A>GCA4451172CFTRc.2324A>G (p.His775Arg)
c.*2038A>G (n.*2038A>G)
c.2141A>G (p.His714Arg)
c.*624A>G (n.*624A>G)
c.*2148A>G (n.*2148A>G)
c.1898A>G (p.His633Arg)
c.1402-10335A>G (n.1402-10335A>G)
c.2234A>G (p.His745Arg)
c.2414A>G (p.His805Arg)
c.2081A>G (p.His694Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.117592491A>TCA368980978CFTRc.2324A>T (p.His775Leu)
c.*2038A>T (n.*2038A>T)
c.2141A>T (p.His714Leu)
c.*624A>T (n.*624A>T)
c.*2148A>T (n.*2148A>T)
c.1898A>T (p.His633Leu)
c.1402-10335A>T (n.1402-10335A>T)
c.2234A>T (p.His745Leu)
c.2414A>T (p.His805Leu)
c.2081A>T (p.His694Leu)
7g.117592492C>ACA368980979CFTRc.2325C>A (p.His775Gln)
c.*2039C>A (n.*2039C>A)
c.2142C>A (p.His714Gln)
c.*625C>A (n.*625C>A)
c.*2149C>A (n.*2149C>A)
c.1899C>A (p.His633Gln)
c.1402-10334C>A (n.1402-10334C>A)
c.2235C>A (p.His745Gln)
c.2415C>A (p.His805Gln)
c.2082C>A (p.His694Gln)
7g.117592492C>GCA368980980CFTRc.2325C>G (p.His775Gln)
c.*2039C>G (n.*2039C>G)
c.2142C>G (p.His714Gln)
c.*625C>G (n.*625C>G)
c.*2149C>G (n.*2149C>G)
c.1899C>G (p.His633Gln)
c.1402-10334C>G (n.1402-10334C>G)
c.2235C>G (p.His745Gln)
c.2415C>G (p.His805Gln)
c.2082C>G (p.His694Gln)
7g.117592492C>TCA457449754CFTRc.2325C>T (p.His775=)
c.*2039C>T (n.*2039C>T)
c.2142C>T (p.His714=)
c.*625C>T (n.*625C>T)
c.*2149C>T (n.*2149C>T)
c.1899C>T (p.His633=)
c.1402-10334C>T (n.1402-10334C>T)
c.2235C>T (p.His745=)
c.2415C>T (p.His805=)
c.2082C>T (p.His694=)
7g.117592493T>ACA368980981CFTRc.2326T>A (p.Ser776Thr)
c.*2040T>A (n.*2040T>A)
c.2143T>A (p.Ser715Thr)
c.*626T>A (n.*626T>A)
c.*2150T>A (n.*2150T>A)
c.1900T>A (p.Ser634Thr)
c.1402-10333T>A (n.1402-10333T>A)
c.2236T>A (p.Ser746Thr)
c.2416T>A (p.Ser806Thr)
c.2083T>A (p.Ser695Thr)
7g.117592493T>CCA368980982CFTRc.2326T>C (p.Ser776Pro)
c.*2040T>C (n.*2040T>C)
c.2143T>C (p.Ser715Pro)
c.*626T>C (n.*626T>C)
c.*2150T>C (n.*2150T>C)
c.1900T>C (p.Ser634Pro)
c.1402-10333T>C (n.1402-10333T>C)
c.2236T>C (p.Ser746Pro)
c.2416T>C (p.Ser806Pro)
c.2083T>C (p.Ser695Pro)
7g.117592493T>GCA368980983CFTRc.2326T>G (p.Ser776Ala)
c.*2040T>G (n.*2040T>G)
c.2143T>G (p.Ser715Ala)
c.*626T>G (n.*626T>G)
c.*2150T>G (n.*2150T>G)
c.1900T>G (p.Ser634Ala)
c.1402-10333T>G (n.1402-10333T>G)
c.2236T>G (p.Ser746Ala)
c.2416T>G (p.Ser806Ala)
c.2083T>G (p.Ser695Ala)
7g.117592494C>ACA368980984CFTRc.2327C>A (p.Ser776Ter)
c.*2041C>A (n.*2041C>A)
c.2144C>A (p.Ser715Ter)
c.*627C>A (n.*627C>A)
c.*2151C>A (n.*2151C>A)
c.1901C>A (p.Ser634Ter)
c.1402-10332C>A (n.1402-10332C>A)
c.2237C>A (p.Ser746Ter)
c.2417C>A (p.Ser806Ter)
c.2084C>A (p.Ser695Ter)
7g.117592494C=CA1737395284CFTRc.2327C= (p.Ser776=)
c.*2041C= (n.*2041C=)
c.2144C= (p.Ser715=)
c.*627C= (n.*627C=)
c.*2151C= (n.*2151C=)
c.1901C= (p.Ser634=)
c.1402-10332C= (n.1402-10332C=)
c.2237C= (p.Ser746=)
c.2417C= (p.Ser806=)
c.2084C= (p.Ser695=)
7g.117592494C>GCA326792CFTRc.2327C>G (p.Ser776Ter)
c.*2041C>G (n.*2041C>G)
c.2144C>G (p.Ser715Ter)
c.*627C>G (n.*627C>G)
c.*2151C>G (n.*2151C>G)
c.1901C>G (p.Ser634Ter)
c.1402-10332C>G (n.1402-10332C>G)
c.2237C>G (p.Ser746Ter)
c.2417C>G (p.Ser806Ter)
c.2084C>G (p.Ser695Ter)
 ClinVar dbSNP
7g.117592494C>TCA368980985CFTRc.2327C>T (p.Ser776Leu)
c.*2041C>T (n.*2041C>T)
c.2144C>T (p.Ser715Leu)
c.*627C>T (n.*627C>T)
c.*2151C>T (n.*2151C>T)
c.1901C>T (p.Ser634Leu)
c.1402-10332C>T (n.1402-10332C>T)
c.2237C>T (p.Ser746Leu)
c.2417C>T (p.Ser806Leu)
c.2084C>T (p.Ser695Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.117592495A>CCA457449762CFTRc.2328A>C (p.Ser776=)
c.*2042A>C (n.*2042A>C)
c.2145A>C (p.Ser715=)
c.*628A>C (n.*628A>C)
c.*2152A>C (n.*2152A>C)
c.1902A>C (p.Ser634=)
c.1402-10331A>C (n.1402-10331A>C)
c.2238A>C (p.Ser746=)
c.2418A>C (p.Ser806=)
c.2085A>C (p.Ser695=)
7g.117592495A>GCA457449763CFTRc.2328A>G (p.Ser776=)
c.*2042A>G (n.*2042A>G)
c.2145A>G (p.Ser715=)
c.*628A>G (n.*628A>G)
c.*2152A>G (n.*2152A>G)
c.1902A>G (p.Ser634=)
c.1402-10331A>G (n.1402-10331A>G)
c.2238A>G (p.Ser746=)
c.2418A>G (p.Ser806=)
c.2085A>G (p.Ser695=)
 ClinVar dbSNP gnomAD v4
7g.117592495A>TCA457449766CFTRc.2328A>T (p.Ser776=)
c.*2042A>T (n.*2042A>T)
c.2145A>T (p.Ser715=)
c.*628A>T (n.*628A>T)
c.*2152A>T (n.*2152A>T)
c.1902A>T (p.Ser634=)
c.1402-10331A>T (n.1402-10331A>T)
c.2238A>T (p.Ser746=)
c.2418A>T (p.Ser806=)
c.2085A>T (p.Ser695=)
7g.117592495dupCA2695208517CFTRc.2328dup (p.Val777SerfsTer2)
c.*2042dup (n.*2042dup)
c.2145dup (p.Val716SerfsTer2)
c.*628dup (n.*628dup)
c.*2152dup (n.*2152dup)
c.1902dup (p.Val635SerfsTer2)
c.1402-10331dup (n.1402-10331dup)
c.2238dup (p.Val747SerfsTer2)
c.2418dup (p.Val807SerfsTer2)
c.2085dup (p.Val696SerfsTer2)
7g.117592496G>ACA368980988CFTRc.2329G>A (p.Val777Ile)
c.*2043G>A (n.*2043G>A)
c.2146G>A (p.Val716Ile)
c.*629G>A (n.*629G>A)
c.*2153G>A (n.*2153G>A)
c.1903G>A (p.Val635Ile)
c.1402-10330G>A (n.1402-10330G>A)
c.2239G>A (p.Val747Ile)
c.2419G>A (p.Val807Ile)
c.2086G>A (p.Val696Ile)
7g.117592496G>CCA368980987CFTRc.2329G>C (p.Val777Leu)
c.*2043G>C (n.*2043G>C)
c.2146G>C (p.Val716Leu)
c.*629G>C (n.*629G>C)
c.*2153G>C (n.*2153G>C)
c.1903G>C (p.Val635Leu)
c.1402-10330G>C (n.1402-10330G>C)
c.2239G>C (p.Val747Leu)
c.2419G>C (p.Val807Leu)
c.2086G>C (p.Val696Leu)
7g.117592496G>TCA368980986CFTRc.2329G>T (p.Val777Phe)
c.*2043G>T (n.*2043G>T)
c.2146G>T (p.Val716Phe)
c.*629G>T (n.*629G>T)
c.*2153G>T (n.*2153G>T)
c.1903G>T (p.Val635Phe)
c.1402-10330G>T (n.1402-10330G>T)
c.2239G>T (p.Val747Phe)
c.2419G>T (p.Val807Phe)
c.2086G>T (p.Val696Phe)
7g.117592497T>ACA368980989CFTRc.2330T>A (p.Val777Asp)
c.*2044T>A (n.*2044T>A)
c.2147T>A (p.Val716Asp)
c.*630T>A (n.*630T>A)
c.*2154T>A (n.*2154T>A)
c.1904T>A (p.Val635Asp)
c.1402-10329T>A (n.1402-10329T>A)
c.2240T>A (p.Val747Asp)
c.2420T>A (p.Val807Asp)
c.2087T>A (p.Val696Asp)
7g.117592497T>CCA368980991CFTRc.2330T>C (p.Val777Ala)
c.*2044T>C (n.*2044T>C)
c.2147T>C (p.Val716Ala)
c.*630T>C (n.*630T>C)
c.*2154T>C (n.*2154T>C)
c.1904T>C (p.Val635Ala)
c.1402-10329T>C (n.1402-10329T>C)
c.2240T>C (p.Val747Ala)
c.2420T>C (p.Val807Ala)
c.2087T>C (p.Val696Ala)
7g.117592497T>GCA368980990CFTRc.2330T>G (p.Val777Gly)
c.*2044T>G (n.*2044T>G)
c.2147T>G (p.Val716Gly)
c.*630T>G (n.*630T>G)
c.*2154T>G (n.*2154T>G)
c.1904T>G (p.Val635Gly)
c.1402-10329T>G (n.1402-10329T>G)
c.2240T>G (p.Val747Gly)
c.2420T>G (p.Val807Gly)
c.2087T>G (p.Val696Gly)
7g.117592498T>ACA457449770CFTRc.2331T>A (p.Val777=)
c.*2045T>A (n.*2045T>A)
c.2148T>A (p.Val716=)
c.*631T>A (n.*631T>A)
c.*2155T>A (n.*2155T>A)
c.1905T>A (p.Val635=)
c.1402-10328T>A (n.1402-10328T>A)
c.2241T>A (p.Val747=)
c.2421T>A (p.Val807=)
c.2088T>A (p.Val696=)
7g.117592498T>CCA457449772CFTRc.2331T>C (p.Val777=)
c.*2045T>C (n.*2045T>C)
c.2148T>C (p.Val716=)
c.*631T>C (n.*631T>C)
c.*2155T>C (n.*2155T>C)
c.1905T>C (p.Val635=)
c.1402-10328T>C (n.1402-10328T>C)
c.2241T>C (p.Val747=)
c.2421T>C (p.Val807=)
c.2088T>C (p.Val696=)
7g.117592498T>GCA457449773CFTRc.2331T>G (p.Val777=)
c.*2045T>G (n.*2045T>G)
c.2148T>G (p.Val716=)
c.*631T>G (n.*631T>G)
c.*2155T>G (n.*2155T>G)
c.1905T>G (p.Val635=)
c.1402-10328T>G (n.1402-10328T>G)
c.2241T>G (p.Val747=)
c.2421T>G (p.Val807=)
c.2088T>G (p.Val696=)
7g.117592499A>CCA368980992CFTRc.2332A>C (p.Asn778His)
c.*2046A>C (n.*2046A>C)
c.2149A>C (p.Asn717His)
c.*632A>C (n.*632A>C)
c.*2156A>C (n.*2156A>C)
c.1906A>C (p.Asn636His)
c.1402-10327A>C (n.1402-10327A>C)
c.2242A>C (p.Asn748His)
c.2422A>C (p.Asn808His)
c.2089A>C (p.Asn697His)
7g.117592499A>GCA368980993CFTRc.2332A>G (p.Asn778Asp)
c.*2046A>G (n.*2046A>G)
c.2149A>G (p.Asn717Asp)
c.*632A>G (n.*632A>G)
c.*2156A>G (n.*2156A>G)
c.1906A>G (p.Asn636Asp)
c.1402-10327A>G (n.1402-10327A>G)
c.2242A>G (p.Asn748Asp)
c.2422A>G (p.Asn808Asp)
c.2089A>G (p.Asn697Asp)
7g.117592499A>TCA368980994CFTRc.2332A>T (p.Asn778Tyr)
c.*2046A>T (n.*2046A>T)
c.2149A>T (p.Asn717Tyr)
c.*632A>T (n.*632A>T)
c.*2156A>T (n.*2156A>T)
c.1906A>T (p.Asn636Tyr)
c.1402-10327A>T (n.1402-10327A>T)
c.2242A>T (p.Asn748Tyr)
c.2422A>T (p.Asn808Tyr)
c.2089A>T (p.Asn697Tyr)
7g.117592500delCA2695208518CFTRc.2333del (p.Asn778ThrfsTer25)
c.*2047del (n.*2047del)
c.2150del (p.Asn717ThrfsTer25)
c.*633del (n.*633del)
c.*2157del (n.*2157del)
c.1907del (p.Asn636ThrfsTer25)
c.1402-10326del (n.1402-10326del)
c.2243del (p.Asn748ThrfsTer25)
c.2423del (p.Asn808ThrfsTer25)
c.2090del (p.Asn697ThrfsTer25)
7g.117592500A>CCA368980995CFTRc.2333A>C (p.Asn778Thr)
c.*2047A>C (n.*2047A>C)
c.2150A>C (p.Asn717Thr)
c.*633A>C (n.*633A>C)
c.*2157A>C (n.*2157A>C)
c.1907A>C (p.Asn636Thr)
c.1402-10326A>C (n.1402-10326A>C)
c.2243A>C (p.Asn748Thr)
c.2423A>C (p.Asn808Thr)
c.2090A>C (p.Asn697Thr)
7g.117592500A>GCA368980996CFTRc.2333A>G (p.Asn778Ser)
c.*2047A>G (n.*2047A>G)
c.2150A>G (p.Asn717Ser)
c.*633A>G (n.*633A>G)
c.*2157A>G (n.*2157A>G)
c.1907A>G (p.Asn636Ser)
c.1402-10326A>G (n.1402-10326A>G)
c.2243A>G (p.Asn748Ser)
c.2423A>G (p.Asn808Ser)
c.2090A>G (p.Asn697Ser)
7g.117592500A>TCA368980997CFTRc.2333A>T (p.Asn778Ile)
c.*2047A>T (n.*2047A>T)
c.2150A>T (p.Asn717Ile)
c.*633A>T (n.*633A>T)
c.*2157A>T (n.*2157A>T)
c.1907A>T (p.Asn636Ile)
c.1402-10326A>T (n.1402-10326A>T)
c.2243A>T (p.Asn748Ile)
c.2423A>T (p.Asn808Ile)
c.2090A>T (p.Asn697Ile)
7g.117592501C>ACA368980998CFTRc.2334C>A (p.Asn778Lys)
c.*2048C>A (n.*2048C>A)
c.2151C>A (p.Asn717Lys)
c.*634C>A (n.*634C>A)
c.*2158C>A (n.*2158C>A)
c.1908C>A (p.Asn636Lys)
c.1402-10325C>A (n.1402-10325C>A)
c.2244C>A (p.Asn748Lys)
c.2424C>A (p.Asn808Lys)
c.2091C>A (p.Asn697Lys)
 gnomAD v4
7g.117592501C>GCA368980999CFTRc.2334C>G (p.Asn778Lys)
c.*2048C>G (n.*2048C>G)
c.2151C>G (p.Asn717Lys)
c.*634C>G (n.*634C>G)
c.*2158C>G (n.*2158C>G)
c.1908C>G (p.Asn636Lys)
c.1402-10325C>G (n.1402-10325C>G)
c.2244C>G (p.Asn748Lys)
c.2424C>G (p.Asn808Lys)
c.2091C>G (p.Asn697Lys)
 gnomAD v4
7g.117592501C>TCA457449775CFTRc.2334C>T (p.Asn778=)
c.*2048C>T (n.*2048C>T)
c.2151C>T (p.Asn717=)
c.*634C>T (n.*634C>T)
c.*2158C>T (n.*2158C>T)
c.1908C>T (p.Asn636=)
c.1402-10325C>T (n.1402-10325C>T)
c.2244C>T (p.Asn748=)
c.2424C>T (p.Asn808=)
c.2091C>T (p.Asn697=)
7g.117592502delCA2580076545CFTRc.2335del (p.Gln779LysfsTer24)
c.*2049del (n.*2049del)
c.2152del (p.Gln718LysfsTer24)
c.*635del (n.*635del)
c.*2159del (n.*2159del)
c.1909del (p.Gln637LysfsTer24)
c.1402-10324del (n.1402-10324del)
c.2245del (p.Gln749LysfsTer24)
c.2425del (p.Gln809LysfsTer24)
c.2092del (p.Gln698LysfsTer24)
 ClinVar
7g.117592502C>ACA368981000CFTRc.2335C>A (p.Gln779Lys)
c.*2049C>A (n.*2049C>A)
c.2152C>A (p.Gln718Lys)
c.*635C>A (n.*635C>A)
c.*2159C>A (n.*2159C>A)
c.1909C>A (p.Gln637Lys)
c.1402-10324C>A (n.1402-10324C>A)
c.2245C>A (p.Gln749Lys)
c.2425C>A (p.Gln809Lys)
c.2092C>A (p.Gln698Lys)
 gnomAD v4
7g.117592502C>GCA368981001CFTRc.2335C>G (p.Gln779Glu)
c.*2049C>G (n.*2049C>G)
c.2152C>G (p.Gln718Glu)
c.*635C>G (n.*635C>G)
c.*2159C>G (n.*2159C>G)
c.1909C>G (p.Gln637Glu)
c.1402-10324C>G (n.1402-10324C>G)
c.2245C>G (p.Gln749Glu)
c.2425C>G (p.Gln809Glu)
c.2092C>G (p.Gln698Glu)
7g.117592502C>TCA368981002CFTRc.2335C>T (p.Gln779Ter)
c.*2049C>T (n.*2049C>T)
c.2152C>T (p.Gln718Ter)
c.*635C>T (n.*635C>T)
c.*2159C>T (n.*2159C>T)
c.1909C>T (p.Gln637Ter)
c.1402-10324C>T (n.1402-10324C>T)
c.2245C>T (p.Gln749Ter)
c.2425C>T (p.Gln809Ter)
c.2092C>T (p.Gln698Ter)
 ClinVar dbSNP
7g.117592503A>CCA368981003CFTRc.2336A>C (p.Gln779Pro)
c.*2050A>C (n.*2050A>C)
c.2153A>C (p.Gln718Pro)
c.*636A>C (n.*636A>C)
c.*2160A>C (n.*2160A>C)
c.1910A>C (p.Gln637Pro)
c.1402-10323A>C (n.1402-10323A>C)
c.2246A>C (p.Gln749Pro)
c.2426A>C (p.Gln809Pro)
c.2093A>C (p.Gln698Pro)
7g.117592503A>GCA368981004CFTRc.2336A>G (p.Gln779Arg)
c.*2050A>G (n.*2050A>G)
c.2153A>G (p.Gln718Arg)
c.*636A>G (n.*636A>G)
c.*2160A>G (n.*2160A>G)
c.1910A>G (p.Gln637Arg)
c.1402-10323A>G (n.1402-10323A>G)
c.2246A>G (p.Gln749Arg)
c.2426A>G (p.Gln809Arg)
c.2093A>G (p.Gln698Arg)
7g.117592503A>TCA368981005CFTRc.2336A>T (p.Gln779Leu)
c.*2050A>T (n.*2050A>T)
c.2153A>T (p.Gln718Leu)
c.*636A>T (n.*636A>T)
c.*2160A>T (n.*2160A>T)
c.1910A>T (p.Gln637Leu)
c.1402-10323A>T (n.1402-10323A>T)
c.2246A>T (p.Gln749Leu)
c.2426A>T (p.Gln809Leu)
c.2093A>T (p.Gln698Leu)
7g.117592504delCA2580076546CFTRc.2337del (p.Gly780ValfsTer23)
c.*2051del (n.*2051del)
c.2154del (p.Gly719ValfsTer23)
c.*637del (n.*637del)
c.*2161del (n.*2161del)
c.1911del (p.Gly638ValfsTer23)
c.1402-10322del (n.1402-10322del)
c.2247del (p.Gly750ValfsTer23)
c.2427del (p.Gly810ValfsTer23)
c.2094del (p.Gly699ValfsTer23)
 ClinVar
7g.117592504A>CCA368981006CFTRc.2337A>C (p.Gln779His)
c.*2051A>C (n.*2051A>C)
c.2154A>C (p.Gln718His)
c.*637A>C (n.*637A>C)
c.*2161A>C (n.*2161A>C)
c.1911A>C (p.Gln637His)
c.1402-10322A>C (n.1402-10322A>C)
c.2247A>C (p.Gln749His)
c.2427A>C (p.Gln809His)
c.2094A>C (p.Gln698His)
7g.117592504A>GCA457449783CFTRc.2337A>G (p.Gln779=)
c.*2051A>G (n.*2051A>G)
c.2154A>G (p.Gln718=)
c.*637A>G (n.*637A>G)
c.*2161A>G (n.*2161A>G)
c.1911A>G (p.Gln637=)
c.1402-10322A>G (n.1402-10322A>G)
c.2247A>G (p.Gln749=)
c.2427A>G (p.Gln809=)
c.2094A>G (p.Gln698=)
7g.117592504A>TCA368981007CFTRc.2337A>T (p.Gln779His)
c.*2051A>T (n.*2051A>T)
c.2154A>T (p.Gln718His)
c.*637A>T (n.*637A>T)
c.*2161A>T (n.*2161A>T)
c.1911A>T (p.Gln637His)
c.1402-10322A>T (n.1402-10322A>T)
c.2247A>T (p.Gln749His)
c.2427A>T (p.Gln809His)
c.2094A>T (p.Gln698His)
7g.117592505G>ACA368981008CFTRc.2338G>A (p.Gly780Ser)
c.*2052G>A (n.*2052G>A)
c.2155G>A (p.Gly719Ser)
c.*638G>A (n.*638G>A)
c.*2162G>A (n.*2162G>A)
c.1912G>A (p.Gly638Ser)
c.1402-10321G>A (n.1402-10321G>A)
c.2248G>A (p.Gly750Ser)
c.2428G>A (p.Gly810Ser)
c.2095G>A (p.Gly699Ser)
 gnomAD v4
7g.117592505G>CCA368981009CFTRc.2338G>C (p.Gly780Arg)
c.*2052G>C (n.*2052G>C)
c.2155G>C (p.Gly719Arg)
c.*638G>C (n.*638G>C)
c.*2162G>C (n.*2162G>C)
c.1912G>C (p.Gly638Arg)
c.1402-10321G>C (n.1402-10321G>C)
c.2248G>C (p.Gly750Arg)
c.2428G>C (p.Gly810Arg)
c.2095G>C (p.Gly699Arg)
7g.117592505G>TCA368981010CFTRc.2338G>T (p.Gly780Cys)
c.*2052G>T (n.*2052G>T)
c.2155G>T (p.Gly719Cys)
c.*638G>T (n.*638G>T)
c.*2162G>T (n.*2162G>T)
c.1912G>T (p.Gly638Cys)
c.1402-10321G>T (n.1402-10321G>T)
c.2248G>T (p.Gly750Cys)
c.2428G>T (p.Gly810Cys)
c.2095G>T (p.Gly699Cys)
 gnomAD v4
7g.117592506delCA2695208519CFTRc.2339del (p.Gly780ValfsTer23)
c.*2053del (n.*2053del)
c.2156del (p.Gly719ValfsTer23)
c.*639del (n.*639del)
c.*2163del (n.*2163del)
c.1913del (p.Gly638ValfsTer23)
c.1402-10320del (n.1402-10320del)
c.2249del (p.Gly750ValfsTer23)
c.2429del (p.Gly810ValfsTer23)
c.2096del (p.Gly699ValfsTer23)
7g.117592506G>ACA368981011CFTRc.2339G>A (p.Gly780Asp)
c.*2053G>A (n.*2053G>A)
c.2156G>A (p.Gly719Asp)
c.*639G>A (n.*639G>A)
c.*2163G>A (n.*2163G>A)
c.1913G>A (p.Gly638Asp)
c.1402-10320G>A (n.1402-10320G>A)
c.2249G>A (p.Gly750Asp)
c.2429G>A (p.Gly810Asp)
c.2096G>A (p.Gly699Asp)
7g.117592506G>CCA368981012CFTRc.2339G>C (p.Gly780Ala)
c.*2053G>C (n.*2053G>C)
c.2156G>C (p.Gly719Ala)
c.*639G>C (n.*639G>C)
c.*2163G>C (n.*2163G>C)
c.1913G>C (p.Gly638Ala)
c.1402-10320G>C (n.1402-10320G>C)
c.2249G>C (p.Gly750Ala)
c.2429G>C (p.Gly810Ala)
c.2096G>C (p.Gly699Ala)
7g.117592506G>TCA368981013CFTRc.2339G>T (p.Gly780Val)
c.*2053G>T (n.*2053G>T)
c.2156G>T (p.Gly719Val)
c.*639G>T (n.*639G>T)
c.*2163G>T (n.*2163G>T)
c.1913G>T (p.Gly638Val)
c.1402-10320G>T (n.1402-10320G>T)
c.2249G>T (p.Gly750Val)
c.2429G>T (p.Gly810Val)
c.2096G>T (p.Gly699Val)
 gnomAD v4
7g.117592507T>ACA457449789CFTRc.2340T>A (p.Gly780=)
c.*2054T>A (n.*2054T>A)
c.2157T>A (p.Gly719=)
c.*640T>A (n.*640T>A)
c.*2164T>A (n.*2164T>A)
c.1914T>A (p.Gly638=)
c.1402-10319T>A (n.1402-10319T>A)
c.2250T>A (p.Gly750=)
c.2430T>A (p.Gly810=)
c.2097T>A (p.Gly699=)
7g.117592507T>CCA457449791CFTRc.2340T>C (p.Gly780=)
c.*2054T>C (n.*2054T>C)
c.2157T>C (p.Gly719=)
c.*640T>C (n.*640T>C)
c.*2164T>C (n.*2164T>C)
c.1914T>C (p.Gly638=)
c.1402-10319T>C (n.1402-10319T>C)
c.2250T>C (p.Gly750=)
c.2430T>C (p.Gly810=)
c.2097T>C (p.Gly699=)
7g.117592507T>GCA457449792CFTRc.2340T>G (p.Gly780=)
c.*2054T>G (n.*2054T>G)
c.2157T>G (p.Gly719=)
c.*640T>G (n.*640T>G)
c.*2164T>G (n.*2164T>G)
c.1914T>G (p.Gly638=)
c.1402-10319T>G (n.1402-10319T>G)
c.2250T>G (p.Gly750=)
c.2430T>G (p.Gly810=)
c.2097T>G (p.Gly699=)
7g.117592508C>ACA368981014CFTRc.2341C>A (p.Gln781Lys)
c.*2055C>A (n.*2055C>A)
c.2158C>A (p.Gln720Lys)
c.*641C>A (n.*641C>A)
c.*2165C>A (n.*2165C>A)
c.1915C>A (p.Gln639Lys)
c.1402-10318C>A (n.1402-10318C>A)
c.2251C>A (p.Gln751Lys)
c.2431C>A (p.Gln811Lys)
c.2098C>A (p.Gln700Lys)
 gnomAD v4
7g.117592508C=CA1737395291CFTRc.2341C= (p.Gln781=)
c.*2055C= (n.*2055C=)
c.2158C= (p.Gln720=)
c.*641C= (n.*641C=)
c.*2165C= (n.*2165C=)
c.1915C= (p.Gln639=)
c.1402-10318C= (n.1402-10318C=)
c.2251C= (p.Gln751=)
c.2431C= (p.Gln811=)
c.2098C= (p.Gln700=)
7g.117592508C>GCA368981015CFTRc.2341C>G (p.Gln781Glu)
c.*2055C>G (n.*2055C>G)
c.2158C>G (p.Gln720Glu)
c.*641C>G (n.*641C>G)
c.*2165C>G (n.*2165C>G)
c.1915C>G (p.Gln639Glu)
c.1402-10318C>G (n.1402-10318C>G)
c.2251C>G (p.Gln751Glu)
c.2431C>G (p.Gln811Glu)
c.2098C>G (p.Gln700Glu)
 ClinVar gnomAD v4
7g.117592508C>TCA326796CFTRc.2341C>T (p.Gln781Ter)
c.*2055C>T (n.*2055C>T)
c.2158C>T (p.Gln720Ter)
c.*641C>T (n.*641C>T)
c.*2165C>T (n.*2165C>T)
c.1915C>T (p.Gln639Ter)
c.1402-10318C>T (n.1402-10318C>T)
c.2251C>T (p.Gln751Ter)
c.2431C>T (p.Gln811Ter)
c.2098C>T (p.Gln700Ter)
 ClinVar dbSNP
7g.117592509A>CCA368981016CFTRc.2342A>C (p.Gln781Pro)
c.*2056A>C (n.*2056A>C)
c.2159A>C (p.Gln720Pro)
c.*642A>C (n.*642A>C)
c.*2166A>C (n.*2166A>C)
c.1916A>C (p.Gln639Pro)
c.1402-10317A>C (n.1402-10317A>C)
c.2252A>C (p.Gln751Pro)
c.2432A>C (p.Gln811Pro)
c.2099A>C (p.Gln700Pro)
7g.117592509A>GCA368981017CFTRc.2342A>G (p.Gln781Arg)
c.*2056A>G (n.*2056A>G)
c.2159A>G (p.Gln720Arg)
c.*642A>G (n.*642A>G)
c.*2166A>G (n.*2166A>G)
c.1916A>G (p.Gln639Arg)
c.1402-10317A>G (n.1402-10317A>G)
c.2252A>G (p.Gln751Arg)
c.2432A>G (p.Gln811Arg)
c.2099A>G (p.Gln700Arg)
 ClinVar dbSNP gnomAD v4
7g.117592509A>TCA368981018CFTRc.2342A>T (p.Gln781Leu)
c.*2056A>T (n.*2056A>T)
c.2159A>T (p.Gln720Leu)
c.*642A>T (n.*642A>T)
c.*2166A>T (n.*2166A>T)
c.1916A>T (p.Gln639Leu)
c.1402-10317A>T (n.1402-10317A>T)
c.2252A>T (p.Gln751Leu)
c.2432A>T (p.Gln811Leu)
c.2099A>T (p.Gln700Leu)
7g.117592510G>ACA457449800CFTRc.2343G>A (p.Gln781=)
c.*2057G>A (n.*2057G>A)
c.2160G>A (p.Gln720=)
c.*643G>A (n.*643G>A)
c.*2167G>A (n.*2167G>A)
c.1917G>A (p.Gln639=)
c.1402-10316G>A (n.1402-10316G>A)
c.2253G>A (p.Gln751=)
c.2433G>A (p.Gln811=)
c.2100G>A (p.Gln700=)
7g.117592510G>CCA368981019CFTRc.2343G>C (p.Gln781His)
c.*2057G>C (n.*2057G>C)
c.2160G>C (p.Gln720His)
c.*643G>C (n.*643G>C)
c.*2167G>C (n.*2167G>C)
c.1917G>C (p.Gln639His)
c.1402-10316G>C (n.1402-10316G>C)
c.2253G>C (p.Gln751His)
c.2433G>C (p.Gln811His)
c.2100G>C (p.Gln700His)
 dbSNP gnomAD v2 gnomAD v4
7g.117592510G=CA1737395294CFTRc.2343G= (p.Gln781=)
c.*2057G= (n.*2057G=)
c.2160G= (p.Gln720=)
c.*643G= (n.*643G=)
c.*2167G= (n.*2167G=)
c.1917G= (p.Gln639=)
c.1402-10316G= (n.1402-10316G=)
c.2253G= (p.Gln751=)
c.2433G= (p.Gln811=)
c.2100G= (p.Gln700=)
7g.117592510G>TCA368981020CFTRc.2343G>T (p.Gln781His)
c.*2057G>T (n.*2057G>T)
c.2160G>T (p.Gln720His)
c.*643G>T (n.*643G>T)
c.*2167G>T (n.*2167G>T)
c.1917G>T (p.Gln639His)
c.1402-10316G>T (n.1402-10316G>T)
c.2253G>T (p.Gln751His)
c.2433G>T (p.Gln811His)
c.2100G>T (p.Gln700His)
7g.117592511A>CCA368981021CFTRc.2344A>C (p.Asn782His)
c.*2058A>C (n.*2058A>C)
c.2161A>C (p.Asn721His)
c.*644A>C (n.*644A>C)
c.*2168A>C (n.*2168A>C)
c.1918A>C (p.Asn640His)
c.1402-10315A>C (n.1402-10315A>C)
c.2254A>C (p.Asn752His)
c.2434A>C (p.Asn812His)
c.2101A>C (p.Asn701His)
7g.117592511A>GCA368981022CFTRc.2344A>G (p.Asn782Asp)
c.*2058A>G (n.*2058A>G)
c.2161A>G (p.Asn721Asp)
c.*644A>G (n.*644A>G)
c.*2168A>G (n.*2168A>G)
c.1918A>G (p.Asn640Asp)
c.1402-10315A>G (n.1402-10315A>G)
c.2254A>G (p.Asn752Asp)
c.2434A>G (p.Asn812Asp)
c.2101A>G (p.Asn701Asp)
7g.117592511A>TCA368981023CFTRc.2344A>T (p.Asn782Tyr)
c.*2058A>T (n.*2058A>T)
c.2161A>T (p.Asn721Tyr)
c.*644A>T (n.*644A>T)
c.*2168A>T (n.*2168A>T)
c.1918A>T (p.Asn640Tyr)
c.1402-10315A>T (n.1402-10315A>T)
c.2254A>T (p.Asn752Tyr)
c.2434A>T (p.Asn812Tyr)
c.2101A>T (p.Asn701Tyr)
7g.117592512A=CA1737395296CFTRc.2345A= (p.Asn782=)
c.*2059A= (n.*2059A=)
c.2162A= (p.Asn721=)
c.*645A= (n.*645A=)
c.*2169A= (n.*2169A=)
c.1919A= (p.Asn640=)
c.1402-10314A= (n.1402-10314A=)
c.2255A= (p.Asn752=)
c.2435A= (p.Asn812=)
c.2102A= (p.Asn701=)
7g.117592512A>CCA368981024CFTRc.2345A>C (p.Asn782Thr)
c.*2059A>C (n.*2059A>C)
c.2162A>C (p.Asn721Thr)
c.*645A>C (n.*645A>C)
c.*2169A>C (n.*2169A>C)
c.1919A>C (p.Asn640Thr)
c.1402-10314A>C (n.1402-10314A>C)
c.2255A>C (p.Asn752Thr)
c.2435A>C (p.Asn812Thr)
c.2102A>C (p.Asn701Thr)
 dbSNP
7g.117592512A>GCA368981025CFTRc.2345A>G (p.Asn782Ser)
c.*2059A>G (n.*2059A>G)
c.2162A>G (p.Asn721Ser)
c.*645A>G (n.*645A>G)
c.*2169A>G (n.*2169A>G)
c.1919A>G (p.Asn640Ser)
c.1402-10314A>G (n.1402-10314A>G)
c.2255A>G (p.Asn752Ser)
c.2435A>G (p.Asn812Ser)
c.2102A>G (p.Asn701Ser)
7g.117592512A>TCA368981026CFTRc.2345A>T (p.Asn782Ile)
c.*2059A>T (n.*2059A>T)
c.2162A>T (p.Asn721Ile)
c.*645A>T (n.*645A>T)
c.*2169A>T (n.*2169A>T)
c.1919A>T (p.Asn640Ile)
c.1402-10314A>T (n.1402-10314A>T)
c.2255A>T (p.Asn752Ile)
c.2435A>T (p.Asn812Ile)
c.2102A>T (p.Asn701Ile)
7g.117592513C>ACA326798CFTRc.2346C>A (p.Asn782Lys)
c.*2060C>A (n.*2060C>A)
c.2163C>A (p.Asn721Lys)
c.*646C>A (n.*646C>A)
c.*2170C>A (n.*2170C>A)
c.1920C>A (p.Asn640Lys)
c.1402-10313C>A (n.1402-10313C>A)
c.2256C>A (p.Asn752Lys)
c.2436C>A (p.Asn812Lys)
c.2103C>A (p.Asn701Lys)
 ClinVar dbSNP gnomAD v4
7g.117592513C=CA1737395301CFTRc.2346C= (p.Asn782=)
c.*2060C= (n.*2060C=)
c.2163C= (p.Asn721=)
c.*646C= (n.*646C=)
c.*2170C= (n.*2170C=)
c.1920C= (p.Asn640=)
c.1402-10313C= (n.1402-10313C=)
c.2256C= (p.Asn752=)
c.2436C= (p.Asn812=)
c.2103C= (p.Asn701=)
7g.117592513C>GCA368981027CFTRc.2346C>G (p.Asn782Lys)
c.*2060C>G (n.*2060C>G)
c.2163C>G (p.Asn721Lys)
c.*646C>G (n.*646C>G)
c.*2170C>G (n.*2170C>G)
c.1920C>G (p.Asn640Lys)
c.1402-10313C>G (n.1402-10313C>G)
c.2256C>G (p.Asn752Lys)
c.2436C>G (p.Asn812Lys)
c.2103C>G (p.Asn701Lys)
7g.117592513C>TCA164948226CFTRc.2346C>T (p.Asn782=)
c.*2060C>T (n.*2060C>T)
c.2163C>T (p.Asn721=)
c.*646C>T (n.*646C>T)
c.*2170C>T (n.*2170C>T)
c.1920C>T (p.Asn640=)
c.1402-10313C>T (n.1402-10313C>T)
c.2256C>T (p.Asn752=)
c.2436C>T (p.Asn812=)
c.2103C>T (p.Asn701=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
7g.117592514A=CA1737395304CFTRc.2347A= (p.Ile783=)
c.*2061A= (n.*2061A=)
c.2164A= (p.Ile722=)
c.*647A= (n.*647A=)
c.*2171A= (n.*2171A=)
c.1921A= (p.Ile641=)
c.1402-10312A= (n.1402-10312A=)
c.2257A= (p.Ile753=)
c.2437A= (p.Ile813=)
c.2104A= (p.Ile702=)
7g.117592514A>CCA368981028CFTRc.2347A>C (p.Ile783Leu)
c.*2061A>C (n.*2061A>C)
c.2164A>C (p.Ile722Leu)
c.*647A>C (n.*647A>C)
c.*2171A>C (n.*2171A>C)
c.1921A>C (p.Ile641Leu)
c.1402-10312A>C (n.1402-10312A>C)
c.2257A>C (p.Ile753Leu)
c.2437A>C (p.Ile813Leu)
c.2104A>C (p.Ile702Leu)
7g.117592514A>GCA4451173CFTRc.2347A>G (p.Ile783Val)
c.*2061A>G (n.*2061A>G)
c.2164A>G (p.Ile722Val)
c.*647A>G (n.*647A>G)
c.*2171A>G (n.*2171A>G)
c.1921A>G (p.Ile641Val)
c.1402-10312A>G (n.1402-10312A>G)
c.2257A>G (p.Ile753Val)
c.2437A>G (p.Ile813Val)
c.2104A>G (p.Ile702Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117592514A>TCA368981029CFTRc.2347A>T (p.Ile783Phe)
c.*2061A>T (n.*2061A>T)
c.2164A>T (p.Ile722Phe)
c.*647A>T (n.*647A>T)
c.*2171A>T (n.*2171A>T)
c.1921A>T (p.Ile641Phe)
c.1402-10312A>T (n.1402-10312A>T)
c.2257A>T (p.Ile753Phe)
c.2437A>T (p.Ile813Phe)
c.2104A>T (p.Ile702Phe)
7g.117592515T>ACA368981030CFTRc.2348T>A (p.Ile783Asn)
c.*2062T>A (n.*2062T>A)
c.2165T>A (p.Ile722Asn)
c.*648T>A (n.*648T>A)
c.*2172T>A (n.*2172T>A)
c.1922T>A (p.Ile641Asn)
c.1402-10311T>A (n.1402-10311T>A)
c.2258T>A (p.Ile753Asn)
c.2438T>A (p.Ile813Asn)
c.2105T>A (p.Ile702Asn)
7g.117592515T>CCA368981031CFTRc.2348T>C (p.Ile783Thr)
c.*2062T>C (n.*2062T>C)
c.2165T>C (p.Ile722Thr)
c.*648T>C (n.*648T>C)
c.*2172T>C (n.*2172T>C)
c.1922T>C (p.Ile641Thr)
c.1402-10311T>C (n.1402-10311T>C)
c.2258T>C (p.Ile753Thr)
c.2438T>C (p.Ile813Thr)
c.2105T>C (p.Ile702Thr)
7g.117592515T>GCA4451174CFTRc.2348T>G (p.Ile783Ser)
c.*2062T>G (n.*2062T>G)
c.2165T>G (p.Ile722Ser)
c.*648T>G (n.*648T>G)
c.*2172T>G (n.*2172T>G)
c.1922T>G (p.Ile641Ser)
c.1402-10311T>G (n.1402-10311T>G)
c.2258T>G (p.Ile753Ser)
c.2438T>G (p.Ile813Ser)
c.2105T>G (p.Ile702Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117592515T=CA1737395307CFTRc.2348T= (p.Ile783=)
c.*2062T= (n.*2062T=)
c.2165T= (p.Ile722=)
c.*648T= (n.*648T=)
c.*2172T= (n.*2172T=)
c.1922T= (p.Ile641=)
c.1402-10311T= (n.1402-10311T=)
c.2258T= (p.Ile753=)
c.2438T= (p.Ile813=)
c.2105T= (p.Ile702=)
7g.117592516dupCA2695208520CFTRc.2349dup (p.His784SerfsTer21)
c.*2063dup (n.*2063dup)
c.2166dup (p.His723SerfsTer21)
c.*649dup (n.*649dup)
c.*2173dup (n.*2173dup)
c.1923dup (p.His642SerfsTer21)
c.1402-10310dup (n.1402-10310dup)
c.2259dup (p.His754SerfsTer21)
c.2439dup (p.His814SerfsTer21)
c.2106dup (p.His703SerfsTer21)
7g.117592516T>ACA457449818CFTRc.2349T>A (p.Ile783=)
c.*2063T>A (n.*2063T>A)
c.2166T>A (p.Ile722=)
c.*649T>A (n.*649T>A)
c.*2173T>A (n.*2173T>A)
c.1923T>A (p.Ile641=)
c.1402-10310T>A (n.1402-10310T>A)
c.2259T>A (p.Ile753=)
c.2439T>A (p.Ile813=)
c.2106T>A (p.Ile702=)
7g.117592516T>CCA457449822CFTRc.2349T>C (p.Ile783=)
c.*2063T>C (n.*2063T>C)
c.2166T>C (p.Ile722=)
c.*649T>C (n.*649T>C)
c.*2173T>C (n.*2173T>C)
c.1923T>C (p.Ile641=)
c.1402-10310T>C (n.1402-10310T>C)
c.2259T>C (p.Ile753=)
c.2439T>C (p.Ile813=)
c.2106T>C (p.Ile702=)
 gnomAD v4
7g.117592516T>GCA368981032CFTRc.2349T>G (p.Ile783Met)
c.*2063T>G (n.*2063T>G)
c.2166T>G (p.Ile722Met)
c.*649T>G (n.*649T>G)
c.*2173T>G (n.*2173T>G)
c.1923T>G (p.Ile641Met)
c.1402-10310T>G (n.1402-10310T>G)
c.2259T>G (p.Ile753Met)
c.2439T>G (p.Ile813Met)
c.2106T>G (p.Ile702Met)
7g.117592517C>ACA368981033CFTRc.2350C>A (p.His784Asn)
c.*2064C>A (n.*2064C>A)
c.2167C>A (p.His723Asn)
c.*650C>A (n.*650C>A)
c.*2174C>A (n.*2174C>A)
c.1924C>A (p.His642Asn)
c.1402-10309C>A (n.1402-10309C>A)
c.2260C>A (p.His754Asn)
c.2440C>A (p.His814Asn)
c.2107C>A (p.His703Asn)
7g.117592517C=CA1737395308CFTRc.2350C= (p.His784=)
c.*2064C= (n.*2064C=)
c.2167C= (p.His723=)
c.*650C= (n.*650C=)
c.*2174C= (n.*2174C=)
c.1924C= (p.His642=)
c.1402-10309C= (n.1402-10309C=)
c.2260C= (p.His754=)
c.2440C= (p.His814=)
c.2107C= (p.His703=)
7g.117592517C>GCA368981034CFTRc.2350C>G (p.His784Asp)
c.*2064C>G (n.*2064C>G)
c.2167C>G (p.His723Asp)
c.*650C>G (n.*650C>G)
c.*2174C>G (n.*2174C>G)
c.1924C>G (p.His642Asp)
c.1402-10309C>G (n.1402-10309C>G)
c.2260C>G (p.His754Asp)
c.2440C>G (p.His814Asp)
c.2107C>G (p.His703Asp)
 ClinVar dbSNP
7g.117592517C>TCA368981035CFTRc.2350C>T (p.His784Tyr)
c.*2064C>T (n.*2064C>T)
c.2167C>T (p.His723Tyr)
c.*650C>T (n.*650C>T)
c.*2174C>T (n.*2174C>T)
c.1924C>T (p.His642Tyr)
c.1402-10309C>T (n.1402-10309C>T)
c.2260C>T (p.His754Tyr)
c.2440C>T (p.His814Tyr)
c.2107C>T (p.His703Tyr)
7g.117592518A>CCA368981036CFTRc.2351A>C (p.His784Pro)
c.*2065A>C (n.*2065A>C)
c.2168A>C (p.His723Pro)
c.*651A>C (n.*651A>C)
c.*2175A>C (n.*2175A>C)
c.1925A>C (p.His642Pro)
c.1A>C
c.1402-10308A>C (n.1402-10308A>C)
c.2261A>C (p.His754Pro)
c.2441A>C (p.His814Pro)
c.2108A>C (p.His703Pro)
7g.117592518A>GCA368981037CFTRc.2351A>G (p.His784Arg)
c.*2065A>G (n.*2065A>G)
c.2168A>G (p.His723Arg)
c.*651A>G (n.*651A>G)
c.*2175A>G (n.*2175A>G)
c.1925A>G (p.His642Arg)
c.1A>G
c.1402-10308A>G (n.1402-10308A>G)
c.2261A>G (p.His754Arg)
c.2441A>G (p.His814Arg)
c.2108A>G (p.His703Arg)
 gnomAD v4 COSMIC
7g.117592518A>TCA368981038CFTRc.2351A>T (p.His784Leu)
c.*2065A>T (n.*2065A>T)
c.2168A>T (p.His723Leu)
c.*651A>T (n.*651A>T)
c.*2175A>T (n.*2175A>T)
c.1925A>T (p.His642Leu)
c.1A>T
c.1402-10308A>T (n.1402-10308A>T)
c.2261A>T (p.His754Leu)
c.2441A>T (p.His814Leu)
c.2108A>T (p.His703Leu)
7g.117592519C>ACA368981039CFTRc.2352C>A (p.His784Gln)
c.*2066C>A (n.*2066C>A)
c.2169C>A (p.His723Gln)
c.*652C>A (n.*652C>A)
c.*2176C>A (n.*2176C>A)
c.1926C>A (p.His642Gln)
c.2C>A
c.1402-10307C>A (n.1402-10307C>A)
c.2262C>A (p.His754Gln)
c.2442C>A (p.His814Gln)
c.2109C>A (p.His703Gln)
7g.117592519C>GCA368981040CFTRc.2352C>G (p.His784Gln)
c.*2066C>G (n.*2066C>G)
c.2169C>G (p.His723Gln)
c.*652C>G (n.*652C>G)
c.*2176C>G (n.*2176C>G)
c.1926C>G (p.His642Gln)
c.2C>G
c.1402-10307C>G (n.1402-10307C>G)
c.2262C>G (p.His754Gln)
c.2442C>G (p.His814Gln)
c.2109C>G (p.His703Gln)
7g.117592519C>TCA457449829CFTRc.2352C>T (p.His784=)
c.*2066C>T (n.*2066C>T)
c.2169C>T (p.His723=)
c.*652C>T (n.*652C>T)
c.*2176C>T (n.*2176C>T)
c.1926C>T (p.His642=)
c.2C>T
c.1402-10307C>T (n.1402-10307C>T)
c.2262C>T (p.His754=)
c.2442C>T (p.His814=)
c.2109C>T (p.His703=)
7g.117592520C>ACA457449830CFTRc.2353C>A (p.Arg785=)
c.*2067C>A (n.*2067C>A)
c.2170C>A (p.Arg724=)
c.*653C>A (n.*653C>A)
c.*2177C>A (n.*2177C>A)
c.1927C>A (p.Arg643=)
c.3C>A
c.1402-10306C>A (n.1402-10306C>A)
c.2263C>A (p.Arg755=)
c.2443C>A (p.Arg815=)
c.2110C>A (p.Arg704=)
7g.117592520C=CA1737395314CFTRc.2353C= (p.Arg785=)
c.*2067C= (n.*2067C=)
c.2170C= (p.Arg724=)
c.*653C= (n.*653C=)
c.*2177C= (n.*2177C=)
c.1927C= (p.Arg643=)
c.3C=
c.1402-10306C= (n.1402-10306C=)
c.2263C= (p.Arg755=)
c.2443C= (p.Arg815=)
c.2110C= (p.Arg704=)
7g.117592520C>GCA368981041CFTRc.2353C>G (p.Arg785Gly)
c.*2067C>G (n.*2067C>G)
c.2170C>G (p.Arg724Gly)
c.*653C>G (n.*653C>G)
c.*2177C>G (n.*2177C>G)
c.1927C>G (p.Arg643Gly)
c.3C>G
c.1402-10306C>G (n.1402-10306C>G)
c.2263C>G (p.Arg755Gly)
c.2443C>G (p.Arg815Gly)
c.2110C>G (p.Arg704Gly)
 ClinVar
7g.117592520C>TCA326800CFTRc.2353C>T (p.Arg785Ter)
c.*2067C>T (n.*2067C>T)
c.2170C>T (p.Arg724Ter)
c.*653C>T (n.*653C>T)
c.*2177C>T (n.*2177C>T)
c.1927C>T (p.Arg643Ter)
c.3C>T
c.1402-10306C>T (n.1402-10306C>T)
c.2263C>T (p.Arg755Ter)
c.2443C>T (p.Arg815Ter)
c.2110C>T (p.Arg704Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117592521G>ACA4451175CFTRc.2354G>A (p.Arg785Gln)
c.*2068G>A (n.*2068G>A)
c.2171G>A (p.Arg724Gln)
c.*654G>A (n.*654G>A)
c.*2178G>A (n.*2178G>A)
c.1928G>A (p.Arg643Gln)
c.4G>A
c.1402-10305G>A (n.1402-10305G>A)
c.2264G>A (p.Arg755Gln)
c.2444G>A (p.Arg815Gln)
c.2111G>A (p.Arg704Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117592521G>CCA4451176CFTRc.2354G>C (p.Arg785Pro)
c.*2068G>C (n.*2068G>C)
c.2171G>C (p.Arg724Pro)
c.*654G>C (n.*654G>C)
c.*2178G>C (n.*2178G>C)
c.1928G>C (p.Arg643Pro)
c.4G>C
c.1402-10305G>C (n.1402-10305G>C)
c.2264G>C (p.Arg755Pro)
c.2444G>C (p.Arg815Pro)
c.2111G>C (p.Arg704Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.117592521G=CA1737395323CFTRc.2354G= (p.Arg785=)
c.*2068G= (n.*2068G=)
c.2171G= (p.Arg724=)
c.*654G= (n.*654G=)
c.*2178G= (n.*2178G=)
c.1928G= (p.Arg643=)
c.4G=
c.1402-10305G= (n.1402-10305G=)
c.2264G= (p.Arg755=)
c.2444G= (p.Arg815=)
c.2111G= (p.Arg704=)
7g.117592521G>TCA368981042CFTRc.2354G>T (p.Arg785Leu)
c.*2068G>T (n.*2068G>T)
c.2171G>T (p.Arg724Leu)
c.*654G>T (n.*654G>T)
c.*2178G>T (n.*2178G>T)
c.1928G>T (p.Arg643Leu)
c.4G>T
c.1402-10305G>T (n.1402-10305G>T)
c.2264G>T (p.Arg755Leu)
c.2444G>T (p.Arg815Leu)
c.2111G>T (p.Arg704Leu)
 ClinVar dbSNP gnomAD v4
7g.117592521_117592528dupCA2695208521CFTRc.2354_2361dup (p.Thr788GlufsTer18)
c.*2068_*2075dup (n.*2068_*2075dup)
c.2171_2178dup (p.Thr727GlufsTer18)
c.*654_*661dup (n.*654_*661dup)
c.*2178_*2185dup (n.*2178_*2185dup)
c.1928_1935dup (p.Thr646GlufsTer18)
c.4_11dup
c.1402-10305_1402-10298dup (n.1402-10305_1402-10298dup)
c.2264_2271dup (p.Thr758GlufsTer18)
c.2444_2451dup (p.Thr818GlufsTer18)
c.2111_2118dup (p.Thr707GlufsTer18)
7g.117592522A>CCA457449839CFTRc.2355A>C (p.Arg785=)
c.*2069A>C (n.*2069A>C)
c.2172A>C (p.Arg724=)
c.*655A>C (n.*655A>C)
c.*2179A>C (n.*2179A>C)
c.1929A>C (p.Arg643=)
c.5A>C
c.1402-10304A>C (n.1402-10304A>C)
c.2265A>C (p.Arg755=)
c.2445A>C (p.Arg815=)
c.2112A>C (p.Arg704=)
7g.117592522A>GCA457449840CFTRc.2355A>G (p.Arg785=)
c.*2069A>G (n.*2069A>G)
c.2172A>G (p.Arg724=)
c.*655A>G (n.*655A>G)
c.*2179A>G (n.*2179A>G)
c.1929A>G (p.Arg643=)
c.5A>G
c.1402-10304A>G (n.1402-10304A>G)
c.2265A>G (p.Arg755=)
c.2445A>G (p.Arg815=)
c.2112A>G (p.Arg704=)
7g.117592522A>TCA457449841CFTRc.2355A>T (p.Arg785=)
c.*2069A>T (n.*2069A>T)
c.2172A>T (p.Arg724=)
c.*655A>T (n.*655A>T)
c.*2179A>T (n.*2179A>T)
c.1929A>T (p.Arg643=)
c.5A>T
c.1402-10304A>T (n.1402-10304A>T)
c.2265A>T (p.Arg755=)
c.2445A>T (p.Arg815=)
c.2112A>T (p.Arg704=)
7g.117592523A>CCA368981043CFTRc.2356A>C (p.Lys786Gln)
c.*2070A>C (n.*2070A>C)
c.2173A>C (p.Lys725Gln)
c.*656A>C (n.*656A>C)
c.*2180A>C (n.*2180A>C)
c.1930A>C (p.Lys644Gln)
c.6A>C
c.1402-10303A>C (n.1402-10303A>C)
c.2266A>C (p.Lys756Gln)
c.2446A>C (p.Lys816Gln)
c.2113A>C (p.Lys705Gln)
7g.117592523A>GCA368981045CFTRc.2356A>G (p.Lys786Glu)
c.*2070A>G (n.*2070A>G)
c.2173A>G (p.Lys725Glu)
c.*656A>G (n.*656A>G)
c.*2180A>G (n.*2180A>G)
c.1930A>G (p.Lys644Glu)
c.6A>G
c.1402-10303A>G (n.1402-10303A>G)
c.2266A>G (p.Lys756Glu)
c.2446A>G (p.Lys816Glu)
c.2113A>G (p.Lys705Glu)
7g.117592523A>TCA368981044CFTRc.2356A>T (p.Lys786Ter)
c.*2070A>T (n.*2070A>T)
c.2173A>T (p.Lys725Ter)
c.*656A>T (n.*656A>T)
c.*2180A>T (n.*2180A>T)
c.1930A>T (p.Lys644Ter)
c.6A>T
c.1402-10303A>T (n.1402-10303A>T)
c.2266A>T (p.Lys756Ter)
c.2446A>T (p.Lys816Ter)
c.2113A>T (p.Lys705Ter)
7g.117592524A>CCA368981046CFTRc.2357A>C (p.Lys786Thr)
c.*2071A>C (n.*2071A>C)
c.2174A>C (p.Lys725Thr)
c.*657A>C (n.*657A>C)
c.*2181A>C (n.*2181A>C)
c.1931A>C (p.Lys644Thr)
c.7A>C
c.1402-10302A>C (n.1402-10302A>C)
c.2267A>C (p.Lys756Thr)
c.2447A>C (p.Lys816Thr)
c.2114A>C (p.Lys705Thr)
7g.117592524A>GCA368981047CFTRc.2357A>G (p.Lys786Arg)
c.*2071A>G (n.*2071A>G)
c.2174A>G (p.Lys725Arg)
c.*657A>G (n.*657A>G)
c.*2181A>G (n.*2181A>G)
c.1931A>G (p.Lys644Arg)
c.7A>G
c.1402-10302A>G (n.1402-10302A>G)
c.2267A>G (p.Lys756Arg)
c.2447A>G (p.Lys816Arg)
c.2114A>G (p.Lys705Arg)
7g.117592524A>TCA368981048CFTRc.2357A>T (p.Lys786Met)
c.*2071A>T (n.*2071A>T)
c.2174A>T (p.Lys725Met)
c.*657A>T (n.*657A>T)
c.*2181A>T (n.*2181A>T)
c.1931A>T (p.Lys644Met)
c.7A>T
c.1402-10302A>T (n.1402-10302A>T)
c.2267A>T (p.Lys756Met)
c.2447A>T (p.Lys816Met)
c.2114A>T (p.Lys705Met)
7g.117592525G>ACA457449854CFTRc.2358G>A (p.Lys786=)
c.*2072G>A (n.*2072G>A)
c.2175G>A (p.Lys725=)
c.*658G>A (n.*658G>A)
c.*2182G>A (n.*2182G>A)
c.1932G>A (p.Lys644=)
c.8G>A
c.1402-10301G>A (n.1402-10301G>A)
c.2268G>A (p.Lys756=)
c.2448G>A (p.Lys816=)
c.2115G>A (p.Lys705=)
 dbSNP
7g.117592525G>CCA4451177CFTRc.2358G>C (p.Lys786Asn)
c.*2072G>C (n.*2072G>C)
c.2175G>C (p.Lys725Asn)
c.*658G>C (n.*658G>C)
c.*2182G>C (n.*2182G>C)
c.1932G>C (p.Lys644Asn)
c.8G>C
c.1402-10301G>C (n.1402-10301G>C)
c.2268G>C (p.Lys756Asn)
c.2448G>C (p.Lys816Asn)
c.2115G>C (p.Lys705Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.117592525G=CA1737395330CFTRc.2358G= (p.Lys786=)
c.*2072G= (n.*2072G=)
c.2175G= (p.Lys725=)
c.*658G= (n.*658G=)
c.*2182G= (n.*2182G=)
c.1932G= (p.Lys644=)
c.8G=
c.1402-10301G= (n.1402-10301G=)
c.2268G= (p.Lys756=)
c.2448G= (p.Lys816=)
c.2115G= (p.Lys705=)
7g.117592525G>TCA368981049CFTRc.2358G>T (p.Lys786Asn)
c.*2072G>T (n.*2072G>T)
c.2175G>T (p.Lys725Asn)
c.*658G>T (n.*658G>T)
c.*2182G>T (n.*2182G>T)
c.1932G>T (p.Lys644Asn)
c.8G>T
c.1402-10301G>T (n.1402-10301G>T)
c.2268G>T (p.Lys756Asn)
c.2448G>T (p.Lys816Asn)
c.2115G>T (p.Lys705Asn)
 gnomAD v4
7g.117592526A>CCA368981052CFTRc.2359A>C (p.Thr787Pro)
c.*2073A>C (n.*2073A>C)
c.2176A>C (p.Thr726Pro)
c.*659A>C (n.*659A>C)
c.*2183A>C (n.*2183A>C)
c.1933A>C (p.Thr645Pro)
c.9A>C
c.1402-10300A>C (n.1402-10300A>C)
c.2269A>C (p.Thr757Pro)
c.2449A>C (p.Thr817Pro)
c.2116A>C (p.Thr706Pro)
7g.117592526A>GCA368981051CFTRc.2359A>G (p.Thr787Ala)
c.*2073A>G (n.*2073A>G)
c.2176A>G (p.Thr726Ala)
c.*659A>G (n.*659A>G)
c.*2183A>G (n.*2183A>G)
c.1933A>G (p.Thr645Ala)
c.9A>G
c.1402-10300A>G (n.1402-10300A>G)
c.2269A>G (p.Thr757Ala)
c.2449A>G (p.Thr817Ala)
c.2116A>G (p.Thr706Ala)
7g.117592526A>TCA368981050CFTRc.2359A>T (p.Thr787Ser)
c.*2073A>T (n.*2073A>T)
c.2176A>T (p.Thr726Ser)
c.*659A>T (n.*659A>T)
c.*2183A>T (n.*2183A>T)
c.1933A>T (p.Thr645Ser)
c.9A>T
c.1402-10300A>T (n.1402-10300A>T)
c.2269A>T (p.Thr757Ser)
c.2449A>T (p.Thr817Ser)
c.2116A>T (p.Thr706Ser)
7g.117592527C>ACA368981053CFTRc.2360C>A (p.Thr787Lys)
c.*2074C>A (n.*2074C>A)
c.2177C>A (p.Thr726Lys)
c.*660C>A (n.*660C>A)
c.*2184C>A (n.*2184C>A)
c.1934C>A (p.Thr645Lys)
c.10C>A
c.1402-10299C>A (n.1402-10299C>A)
c.2270C>A (p.Thr757Lys)
c.2450C>A (p.Thr817Lys)
c.2117C>A (p.Thr706Lys)
 ClinVar dbSNP gnomAD v4
7g.117592527C>GCA368981054CFTRc.2360C>G (p.Thr787Arg)
c.*2074C>G (n.*2074C>G)
c.2177C>G (p.Thr726Arg)
c.*660C>G (n.*660C>G)
c.*2184C>G (n.*2184C>G)
c.1934C>G (p.Thr645Arg)
c.10C>G
c.1402-10299C>G (n.1402-10299C>G)
c.2270C>G (p.Thr757Arg)
c.2450C>G (p.Thr817Arg)
c.2117C>G (p.Thr706Arg)
7g.117592527C>TCA368981055CFTRc.2360C>T (p.Thr787Ile)
c.*2074C>T (n.*2074C>T)
c.2177C>T (p.Thr726Ile)
c.*660C>T (n.*660C>T)
c.*2184C>T (n.*2184C>T)
c.1934C>T (p.Thr645Ile)
c.10C>T
c.1402-10299C>T (n.1402-10299C>T)
c.2270C>T (p.Thr757Ile)
c.2450C>T (p.Thr817Ile)
c.2117C>T (p.Thr706Ile)
 gnomAD v4
7g.117592528A>CCA457449862CFTRc.2361A>C (p.Thr787=)
c.*2075A>C (n.*2075A>C)
c.2178A>C (p.Thr726=)
c.*661A>C (n.*661A>C)
c.*2185A>C (n.*2185A>C)
c.1935A>C (p.Thr645=)
c.11A>C
c.1402-10298A>C (n.1402-10298A>C)
c.2271A>C (p.Thr757=)
c.2451A>C (p.Thr817=)
c.2118A>C (p.Thr706=)
7g.117592528A>GCA457449864CFTRc.2361A>G (p.Thr787=)
c.*2075A>G (n.*2075A>G)
c.2178A>G (p.Thr726=)
c.*661A>G (n.*661A>G)
c.*2185A>G (n.*2185A>G)
c.1935A>G (p.Thr645=)
c.11A>G
c.1402-10298A>G (n.1402-10298A>G)
c.2271A>G (p.Thr757=)
c.2451A>G (p.Thr817=)
c.2118A>G (p.Thr706=)
7g.117592528A>TCA457449865CFTRc.2361A>T (p.Thr787=)
c.*2075A>T (n.*2075A>T)
c.2178A>T (p.Thr726=)
c.*661A>T (n.*661A>T)
c.*2185A>T (n.*2185A>T)
c.1935A>T (p.Thr645=)
c.11A>T
c.1402-10298A>T (n.1402-10298A>T)
c.2271A>T (p.Thr757=)
c.2451A>T (p.Thr817=)
c.2118A>T (p.Thr706=)
7g.117592529A>CCA368981056CFTRc.2362A>C (p.Thr788Pro)
c.*2076A>C (n.*2076A>C)
c.2179A>C (p.Thr727Pro)
c.*662A>C (n.*662A>C)
c.*2186A>C (n.*2186A>C)
c.1936A>C (p.Thr646Pro)
c.12A>C
c.1402-10297A>C (n.1402-10297A>C)
c.2272A>C (p.Thr758Pro)
c.2452A>C (p.Thr818Pro)
c.2119A>C (p.Thr707Pro)
7g.117592529A>GCA368981057CFTRc.2362A>G (p.Thr788Ala)
c.*2076A>G (n.*2076A>G)
c.2179A>G (p.Thr727Ala)
c.*662A>G (n.*662A>G)
c.*2186A>G (n.*2186A>G)
c.1936A>G (p.Thr646Ala)
c.12A>G
c.1402-10297A>G (n.1402-10297A>G)
c.2272A>G (p.Thr758Ala)
c.2452A>G (p.Thr818Ala)
c.2119A>G (p.Thr707Ala)
 gnomAD v4
7g.117592529A>TCA368981058CFTRc.2362A>T (p.Thr788Ser)
c.*2076A>T (n.*2076A>T)
c.2179A>T (p.Thr727Ser)
c.*662A>T (n.*662A>T)
c.*2186A>T (n.*2186A>T)
c.1936A>T (p.Thr646Ser)
c.12A>T
c.1402-10297A>T (n.1402-10297A>T)
c.2272A>T (p.Thr758Ser)
c.2452A>T (p.Thr818Ser)
c.2119A>T (p.Thr707Ser)
7g.117592530C>ACA368981061CFTRc.2363C>A (p.Thr788Lys)
c.*2077C>A (n.*2077C>A)
c.2180C>A (p.Thr727Lys)
c.*663C>A (n.*663C>A)
c.*2187C>A (n.*2187C>A)
c.1937C>A (p.Thr646Lys)
c.13C>A
c.1402-10296C>A (n.1402-10296C>A)
c.2273C>A (p.Thr758Lys)
c.2453C>A (p.Thr818Lys)
c.2120C>A (p.Thr707Lys)
 dbSNP gnomAD v4 COSMIC
7g.117592530C=CA1737395332CFTRc.2363C= (p.Thr788=)
c.*2077C= (n.*2077C=)
c.2180C= (p.Thr727=)
c.*663C= (n.*663C=)
c.*2187C= (n.*2187C=)
c.1937C= (p.Thr646=)
c.13C=
c.1402-10296C= (n.1402-10296C=)
c.2273C= (p.Thr758=)
c.2453C= (p.Thr818=)
c.2120C= (p.Thr707=)
7g.117592530C>GCA368981059CFTRc.2363C>G (p.Thr788Arg)
c.*2077C>G (n.*2077C>G)
c.2180C>G (p.Thr727Arg)
c.*663C>G (n.*663C>G)
c.*2187C>G (n.*2187C>G)
c.1937C>G (p.Thr646Arg)
c.13C>G
c.1402-10296C>G (n.1402-10296C>G)
c.2273C>G (p.Thr758Arg)
c.2453C>G (p.Thr818Arg)
c.2120C>G (p.Thr707Arg)
7g.117592530C>TCA368981060CFTRc.2363C>T (p.Thr788Ile)
c.*2077C>T (n.*2077C>T)
c.2180C>T (p.Thr727Ile)
c.*663C>T (n.*663C>T)
c.*2187C>T (n.*2187C>T)
c.1937C>T (p.Thr646Ile)
c.13C>T
c.1402-10296C>T (n.1402-10296C>T)
c.2273C>T (p.Thr758Ile)
c.2453C>T (p.Thr818Ile)
c.2120C>T (p.Thr707Ile)
7g.117592531A>CCA457449871CFTRc.2364A>C (p.Thr788=)
c.*2078A>C (n.*2078A>C)
c.2181A>C (p.Thr727=)
c.*664A>C (n.*664A>C)
c.*2188A>C (n.*2188A>C)
c.1938A>C (p.Thr646=)
c.14A>C
c.1402-10295A>C (n.1402-10295A>C)
c.2274A>C (p.Thr758=)
c.2454A>C (p.Thr818=)
c.2121A>C (p.Thr707=)
7g.117592531A>GCA457449870CFTRc.2364A>G (p.Thr788=)
c.*2078A>G (n.*2078A>G)
c.2181A>G (p.Thr727=)
c.*664A>G (n.*664A>G)
c.*2188A>G (n.*2188A>G)
c.1938A>G (p.Thr646=)
c.14A>G
c.1402-10295A>G (n.1402-10295A>G)
c.2274A>G (p.Thr758=)
c.2454A>G (p.Thr818=)
c.2121A>G (p.Thr707=)
 gnomAD v4
7g.117592531A>TCA457449869CFTRc.2364A>T (p.Thr788=)
c.*2078A>T (n.*2078A>T)
c.2181A>T (p.Thr727=)
c.*664A>T (n.*664A>T)
c.*2188A>T (n.*2188A>T)
c.1938A>T (p.Thr646=)
c.14A>T
c.1402-10295A>T (n.1402-10295A>T)
c.2274A>T (p.Thr758=)
c.2454A>T (p.Thr818=)
c.2121A>T (p.Thr707=)
7g.117592532G>ACA368981062CFTRc.2365G>A (p.Ala789Thr)
c.*2079G>A (n.*2079G>A)
c.2182G>A (p.Ala728Thr)
c.*665G>A (n.*665G>A)
c.*2189G>A (n.*2189G>A)
c.1939G>A (p.Ala647Thr)
c.15G>A
c.1402-10294G>A (n.1402-10294G>A)
c.2275G>A (p.Ala759Thr)
c.2455G>A (p.Ala819Thr)
c.2122G>A (p.Ala708Thr)
 dbSNP
7g.117592532G>CCA368981063CFTRc.2365G>C (p.Ala789Pro)
c.*2079G>C (n.*2079G>C)
c.2182G>C (p.Ala728Pro)
c.*665G>C (n.*665G>C)
c.*2189G>C (n.*2189G>C)
c.1939G>C (p.Ala647Pro)
c.15G>C
c.1402-10294G>C (n.1402-10294G>C)
c.2275G>C (p.Ala759Pro)
c.2455G>C (p.Ala819Pro)
c.2122G>C (p.Ala708Pro)
7g.117592532G=CA1737395334CFTRc.2365G= (p.Ala789=)
c.*2079G= (n.*2079G=)
c.2182G= (p.Ala728=)
c.*665G= (n.*665G=)
c.*2189G= (n.*2189G=)
c.1939G= (p.Ala647=)
c.15G=
c.1402-10294G= (n.1402-10294G=)
c.2275G= (p.Ala759=)
c.2455G= (p.Ala819=)
c.2122G= (p.Ala708=)
7g.117592532G>TCA368981064CFTRc.2365G>T (p.Ala789Ser)
c.*2079G>T (n.*2079G>T)
c.2182G>T (p.Ala728Ser)
c.*665G>T (n.*665G>T)
c.*2189G>T (n.*2189G>T)
c.1939G>T (p.Ala647Ser)
c.15G>T
c.1402-10294G>T (n.1402-10294G>T)
c.2275G>T (p.Ala759Ser)
c.2455G>T (p.Ala819Ser)
c.2122G>T (p.Ala708Ser)
 COSMIC
7g.117592533C>ACA368981065CFTRc.2366C>A (p.Ala789Glu)
c.*2080C>A (n.*2080C>A)
c.2183C>A (p.Ala728Glu)
c.*666C>A (n.*666C>A)
c.*2190C>A (n.*2190C>A)
c.1940C>A (p.Ala647Glu)
c.16C>A
c.1402-10293C>A (n.1402-10293C>A)
c.2276C>A (p.Ala759Glu)
c.2456C>A (p.Ala819Glu)
c.2123C>A (p.Ala708Glu)
 gnomAD v4
7g.117592533C>GCA368981066CFTRc.2366C>G (p.Ala789Gly)
c.*2080C>G (n.*2080C>G)
c.2183C>G (p.Ala728Gly)
c.*666C>G (n.*666C>G)
c.*2190C>G (n.*2190C>G)
c.1940C>G (p.Ala647Gly)
c.16C>G
c.1402-10293C>G (n.1402-10293C>G)
c.2276C>G (p.Ala759Gly)
c.2456C>G (p.Ala819Gly)
c.2123C>G (p.Ala708Gly)
7g.117592533C>TCA368981067CFTRc.2366C>T (p.Ala789Val)
c.*2080C>T (n.*2080C>T)
c.2183C>T (p.Ala728Val)
c.*666C>T (n.*666C>T)
c.*2190C>T (n.*2190C>T)
c.1940C>T (p.Ala647Val)
c.16C>T
c.1402-10293C>T (n.1402-10293C>T)
c.2276C>T (p.Ala759Val)
c.2456C>T (p.Ala819Val)
c.2123C>T (p.Ala708Val)
 gnomAD v4
7g.117592534A>CCA457449880CFTRc.2367A>C (p.Ala789=)
c.*2081A>C (n.*2081A>C)
c.2184A>C (p.Ala728=)
c.*667A>C (n.*667A>C)
c.*2191A>C (n.*2191A>C)
c.1941A>C (p.Ala647=)
c.17A>C
c.1402-10292A>C (n.1402-10292A>C)
c.2277A>C (p.Ala759=)
c.2457A>C (p.Ala819=)
c.2124A>C (p.Ala708=)
7g.117592534A>GCA457449881CFTRc.2367A>G (p.Ala789=)
c.*2081A>G (n.*2081A>G)
c.2184A>G (p.Ala728=)
c.*667A>G (n.*667A>G)
c.*2191A>G (n.*2191A>G)
c.1941A>G (p.Ala647=)
c.17A>G
c.1402-10292A>G (n.1402-10292A>G)
c.2277A>G (p.Ala759=)
c.2457A>G (p.Ala819=)
c.2124A>G (p.Ala708=)
7g.117592534A>TCA457449882CFTRc.2367A>T (p.Ala789=)
c.*2081A>T (n.*2081A>T)
c.2184A>T (p.Ala728=)
c.*667A>T (n.*667A>T)
c.*2191A>T (n.*2191A>T)
c.1941A>T (p.Ala647=)
c.17A>T
c.1402-10292A>T (n.1402-10292A>T)
c.2277A>T (p.Ala759=)
c.2457A>T (p.Ala819=)
c.2124A>T (p.Ala708=)
7g.117592535T>ACA368981068CFTRc.2368T>A (p.Ser790Thr)
c.*2082T>A (n.*2082T>A)
c.2185T>A (p.Ser729Thr)
c.*668T>A (n.*668T>A)
c.*2192T>A (n.*2192T>A)
c.1942T>A (p.Ser648Thr)
c.18T>A
c.1402-10291T>A (n.1402-10291T>A)
c.2278T>A (p.Ser760Thr)
c.2458T>A (p.Ser820Thr)
c.2125T>A (p.Ser709Thr)
7g.117592535T>CCA368981069CFTRc.2368T>C (p.Ser790Pro)
c.*2082T>C (n.*2082T>C)
c.2185T>C (p.Ser729Pro)
c.*668T>C (n.*668T>C)
c.*2192T>C (n.*2192T>C)
c.1942T>C (p.Ser648Pro)
c.18T>C
c.1402-10291T>C (n.1402-10291T>C)
c.2278T>C (p.Ser760Pro)
c.2458T>C (p.Ser820Pro)
c.2125T>C (p.Ser709Pro)
7g.117592535T>GCA368981070CFTRc.2368T>G (p.Ser790Ala)
c.*2082T>G (n.*2082T>G)
c.2185T>G (p.Ser729Ala)
c.*668T>G (n.*668T>G)
c.*2192T>G (n.*2192T>G)
c.1942T>G (p.Ser648Ala)
c.18T>G
c.1402-10291T>G (n.1402-10291T>G)
c.2278T>G (p.Ser760Ala)
c.2458T>G (p.Ser820Ala)
c.2125T>G (p.Ser709Ala)
7g.117592536C>ACA368981071CFTRc.2369C>A (p.Ser790Tyr)
c.*2083C>A (n.*2083C>A)
c.2186C>A (p.Ser729Tyr)
c.*669C>A (n.*669C>A)
c.*2193C>A (n.*2193C>A)
c.1943C>A (p.Ser648Tyr)
c.19C>A
c.1402-10290C>A (n.1402-10290C>A)
c.2279C>A (p.Ser760Tyr)
c.2459C>A (p.Ser820Tyr)
c.2126C>A (p.Ser709Tyr)
7g.117592536C>GCA368981072CFTRc.2369C>G (p.Ser790Cys)
c.*2083C>G (n.*2083C>G)
c.2186C>G (p.Ser729Cys)
c.*669C>G (n.*669C>G)
c.*2193C>G (n.*2193C>G)
c.1943C>G (p.Ser648Cys)
c.19C>G
c.1402-10290C>G (n.1402-10290C>G)
c.2279C>G (p.Ser760Cys)
c.2459C>G (p.Ser820Cys)
c.2126C>G (p.Ser709Cys)
7g.117592536C>TCA368981073CFTRc.2369C>T (p.Ser790Phe)
c.*2083C>T (n.*2083C>T)
c.2186C>T (p.Ser729Phe)
c.*669C>T (n.*669C>T)
c.*2193C>T (n.*2193C>T)
c.1943C>T (p.Ser648Phe)
c.19C>T
c.1402-10290C>T (n.1402-10290C>T)
c.2279C>T (p.Ser760Phe)
c.2459C>T (p.Ser820Phe)
c.2126C>T (p.Ser709Phe)
 gnomAD v4

Number of alleles fetched