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.117592169C>ACA368979176CFTRc.2002C>A (p.Arg668Ser)
c.*1716C>A (n.*1716C>A)
c.1819C>A (p.Arg607Ser)
c.*302C>A (n.*302C>A)
c.*1826C>A (n.*1826C>A)
c.1576C>A (p.Arg526Ser)
c.1402-10657C>A (n.1402-10657C>A)
c.1912C>A (p.Arg638Ser)
c.2092C>A (p.Arg698Ser)
c.1759C>A (p.Arg587Ser)
 dbSNP
7g.117592169C=CA1737394439CFTRc.2002C= (p.Arg668=)
c.*1716C= (n.*1716C=)
c.1819C= (p.Arg607=)
c.*302C= (n.*302C=)
c.*1826C= (n.*1826C=)
c.1576C= (p.Arg526=)
c.1402-10657C= (n.1402-10657C=)
c.1912C= (p.Arg638=)
c.2092C= (p.Arg698=)
c.1759C= (p.Arg587=)
7g.117592169C>GCA368979175CFTRc.2002C>G (p.Arg668Gly)
c.*1716C>G (n.*1716C>G)
c.1819C>G (p.Arg607Gly)
c.*302C>G (n.*302C>G)
c.*1826C>G (n.*1826C>G)
c.1576C>G (p.Arg526Gly)
c.1402-10657C>G (n.1402-10657C>G)
c.1912C>G (p.Arg638Gly)
c.2092C>G (p.Arg698Gly)
c.1759C>G (p.Arg587Gly)
7g.117592169C>TCA182840CFTRc.2002C>T (p.Arg668Cys)
c.*1716C>T (n.*1716C>T)
c.1819C>T (p.Arg607Cys)
c.*302C>T (n.*302C>T)
c.*1826C>T (n.*1826C>T)
c.1576C>T (p.Arg526Cys)
c.1402-10657C>T (n.1402-10657C>T)
c.1912C>T (p.Arg638Cys)
c.2092C>T (p.Arg698Cys)
c.1759C>T (p.Arg587Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117592170G>ACA4451125CFTRc.2003G>A (p.Arg668His)
c.*1717G>A (n.*1717G>A)
c.1820G>A (p.Arg607His)
c.*303G>A (n.*303G>A)
c.*1827G>A (n.*1827G>A)
c.1577G>A (p.Arg526His)
c.1402-10656G>A (n.1402-10656G>A)
c.1913G>A (p.Arg638His)
c.2093G>A (p.Arg698His)
c.1760G>A (p.Arg587His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117592170G>CCA368979177CFTRc.2003G>C (p.Arg668Pro)
c.*1717G>C (n.*1717G>C)
c.1820G>C (p.Arg607Pro)
c.*303G>C (n.*303G>C)
c.*1827G>C (n.*1827G>C)
c.1577G>C (p.Arg526Pro)
c.1402-10656G>C (n.1402-10656G>C)
c.1913G>C (p.Arg638Pro)
c.2093G>C (p.Arg698Pro)
c.1760G>C (p.Arg587Pro)
7g.117592170G=CA1737394444CFTRc.2003G= (p.Arg668=)
c.*1717G= (n.*1717G=)
c.1820G= (p.Arg607=)
c.*303G= (n.*303G=)
c.*1827G= (n.*1827G=)
c.1577G= (p.Arg526=)
c.1402-10656G= (n.1402-10656G=)
c.1913G= (p.Arg638=)
c.2093G= (p.Arg698=)
c.1760G= (p.Arg587=)
7g.117592170G>TCA164947672CFTRc.2003G>T (p.Arg668Leu)
c.*1717G>T (n.*1717G>T)
c.1820G>T (p.Arg607Leu)
c.*303G>T (n.*303G>T)
c.*1827G>T (n.*1827G>T)
c.1577G>T (p.Arg526Leu)
c.1402-10656G>T (n.1402-10656G>T)
c.1913G>T (p.Arg638Leu)
c.2093G>T (p.Arg698Leu)
c.1760G>T (p.Arg587Leu)
 dbSNP gnomAD v4
7g.117592171T>ACA457448954CFTRc.2004T>A (p.Arg668=)
c.*1718T>A (n.*1718T>A)
c.1821T>A (p.Arg607=)
c.*304T>A (n.*304T>A)
c.*1828T>A (n.*1828T>A)
c.1578T>A (p.Arg526=)
c.1402-10655T>A (n.1402-10655T>A)
c.1914T>A (p.Arg638=)
c.2094T>A (p.Arg698=)
c.1761T>A (p.Arg587=)
7g.117592171T>CCA457448955CFTRc.2004T>C (p.Arg668=)
c.*1718T>C (n.*1718T>C)
c.1821T>C (p.Arg607=)
c.*304T>C (n.*304T>C)
c.*1828T>C (n.*1828T>C)
c.1578T>C (p.Arg526=)
c.1402-10655T>C (n.1402-10655T>C)
c.1914T>C (p.Arg638=)
c.2094T>C (p.Arg698=)
c.1761T>C (p.Arg587=)
 dbSNP
7g.117592171T>GCA457448956CFTRc.2004T>G (p.Arg668=)
c.*1718T>G (n.*1718T>G)
c.1821T>G (p.Arg607=)
c.*304T>G (n.*304T>G)
c.*1828T>G (n.*1828T>G)
c.1578T>G (p.Arg526=)
c.1402-10655T>G (n.1402-10655T>G)
c.1914T>G (p.Arg638=)
c.2094T>G (p.Arg698=)
c.1761T>G (p.Arg587=)
7g.117592171T=CA1737394450CFTRc.2004T= (p.Arg668=)
c.*1718T= (n.*1718T=)
c.1821T= (p.Arg607=)
c.*304T= (n.*304T=)
c.*1828T= (n.*1828T=)
c.1578T= (p.Arg526=)
c.1402-10655T= (n.1402-10655T=)
c.1914T= (p.Arg638=)
c.2094T= (p.Arg698=)
c.1761T= (p.Arg587=)
7g.117592172T>ACA368979178CFTRc.2005T>A (p.Phe669Ile)
c.*1719T>A (n.*1719T>A)
c.1822T>A (p.Phe608Ile)
c.*305T>A (n.*305T>A)
c.*1829T>A (n.*1829T>A)
c.1579T>A (p.Phe527Ile)
c.1402-10654T>A (n.1402-10654T>A)
c.1915T>A (p.Phe639Ile)
c.2095T>A (p.Phe699Ile)
c.1762T>A (p.Phe588Ile)
7g.117592172T>CCA368979179CFTRc.2005T>C (p.Phe669Leu)
c.*1719T>C (n.*1719T>C)
c.1822T>C (p.Phe608Leu)
c.*305T>C (n.*305T>C)
c.*1829T>C (n.*1829T>C)
c.1579T>C (p.Phe527Leu)
c.1402-10654T>C (n.1402-10654T>C)
c.1915T>C (p.Phe639Leu)
c.2095T>C (p.Phe699Leu)
c.1762T>C (p.Phe588Leu)
 ClinVar dbSNP gnomAD v4
7g.117592172T>GCA368979180CFTRc.2005T>G (p.Phe669Val)
c.*1719T>G (n.*1719T>G)
c.1822T>G (p.Phe608Val)
c.*305T>G (n.*305T>G)
c.*1829T>G (n.*1829T>G)
c.1579T>G (p.Phe527Val)
c.1402-10654T>G (n.1402-10654T>G)
c.1915T>G (p.Phe639Val)
c.2095T>G (p.Phe699Val)
c.1762T>G (p.Phe588Val)
7g.117592173T>ACA368979181CFTRc.2006T>A (p.Phe669Tyr)
c.*1720T>A (n.*1720T>A)
c.1823T>A (p.Phe608Tyr)
c.*306T>A (n.*306T>A)
c.*1830T>A (n.*1830T>A)
c.1580T>A (p.Phe527Tyr)
c.1402-10653T>A (n.1402-10653T>A)
c.1916T>A (p.Phe639Tyr)
c.2096T>A (p.Phe699Tyr)
c.1763T>A (p.Phe588Tyr)
7g.117592173T>CCA368979183CFTRc.2006T>C (p.Phe669Ser)
c.*1720T>C (n.*1720T>C)
c.1823T>C (p.Phe608Ser)
c.*306T>C (n.*306T>C)
c.*1830T>C (n.*1830T>C)
c.1580T>C (p.Phe527Ser)
c.1402-10653T>C (n.1402-10653T>C)
c.1916T>C (p.Phe639Ser)
c.2096T>C (p.Phe699Ser)
c.1763T>C (p.Phe588Ser)
7g.117592173T>GCA368979182CFTRc.2006T>G (p.Phe669Cys)
c.*1720T>G (n.*1720T>G)
c.1823T>G (p.Phe608Cys)
c.*306T>G (n.*306T>G)
c.*1830T>G (n.*1830T>G)
c.1580T>G (p.Phe527Cys)
c.1402-10653T>G (n.1402-10653T>G)
c.1916T>G (p.Phe639Cys)
c.2096T>G (p.Phe699Cys)
c.1763T>G (p.Phe588Cys)
7g.117592174C>ACA368979190CFTRc.2007C>A (p.Phe669Leu)
c.*1721C>A (n.*1721C>A)
c.1824C>A (p.Phe608Leu)
c.*307C>A (n.*307C>A)
c.*1831C>A (n.*1831C>A)
c.1581C>A (p.Phe527Leu)
c.1402-10652C>A (n.1402-10652C>A)
c.1917C>A (p.Phe639Leu)
c.2097C>A (p.Phe699Leu)
c.1764C>A (p.Phe588Leu)
7g.117592174C=CA1737394454CFTRc.2007C= (p.Phe669=)
c.*1721C= (n.*1721C=)
c.1824C= (p.Phe608=)
c.*307C= (n.*307C=)
c.*1831C= (n.*1831C=)
c.1581C= (p.Phe527=)
c.1402-10652C= (n.1402-10652C=)
c.1917C= (p.Phe639=)
c.2097C= (p.Phe699=)
c.1764C= (p.Phe588=)
7g.117592174C>GCA368979192CFTRc.2007C>G (p.Phe669Leu)
c.*1721C>G (n.*1721C>G)
c.1824C>G (p.Phe608Leu)
c.*307C>G (n.*307C>G)
c.*1831C>G (n.*1831C>G)
c.1581C>G (p.Phe527Leu)
c.1402-10652C>G (n.1402-10652C>G)
c.1917C>G (p.Phe639Leu)
c.2097C>G (p.Phe699Leu)
c.1764C>G (p.Phe588Leu)
7g.117592174C>TCA164947676CFTRc.2007C>T (p.Phe669=)
c.*1721C>T (n.*1721C>T)
c.1824C>T (p.Phe608=)
c.*307C>T (n.*307C>T)
c.*1831C>T (n.*1831C>T)
c.1581C>T (p.Phe527=)
c.1402-10652C>T (n.1402-10652C>T)
c.1917C>T (p.Phe639=)
c.2097C>T (p.Phe699=)
c.1764C>T (p.Phe588=)
 ClinVar dbSNP gnomAD v4
7g.117592175T>ACA368979194CFTRc.2008T>A (p.Ser670Thr)
c.*1722T>A (n.*1722T>A)
c.1825T>A (p.Ser609Thr)
c.*308T>A (n.*308T>A)
c.*1832T>A (n.*1832T>A)
c.1582T>A (p.Ser528Thr)
c.1402-10651T>A (n.1402-10651T>A)
c.1918T>A (p.Ser640Thr)
c.2098T>A (p.Ser700Thr)
c.1765T>A (p.Ser589Thr)
7g.117592175T>CCA368979196CFTRc.2008T>C (p.Ser670Pro)
c.*1722T>C (n.*1722T>C)
c.1825T>C (p.Ser609Pro)
c.*308T>C (n.*308T>C)
c.*1832T>C (n.*1832T>C)
c.1582T>C (p.Ser528Pro)
c.1402-10651T>C (n.1402-10651T>C)
c.1918T>C (p.Ser640Pro)
c.2098T>C (p.Ser700Pro)
c.1765T>C (p.Ser589Pro)
7g.117592175T>GCA368979200CFTRc.2008T>G (p.Ser670Ala)
c.*1722T>G (n.*1722T>G)
c.1825T>G (p.Ser609Ala)
c.*308T>G (n.*308T>G)
c.*1832T>G (n.*1832T>G)
c.1582T>G (p.Ser528Ala)
c.1402-10651T>G (n.1402-10651T>G)
c.1918T>G (p.Ser640Ala)
c.2098T>G (p.Ser700Ala)
c.1765T>G (p.Ser589Ala)
 COSMIC
7g.117592176C>ACA368979203CFTRc.2009C>A (p.Ser670Ter)
c.*1723C>A (n.*1723C>A)
c.1826C>A (p.Ser609Ter)
c.*309C>A (n.*309C>A)
c.*1833C>A (n.*1833C>A)
c.1583C>A (p.Ser528Ter)
c.1402-10650C>A (n.1402-10650C>A)
c.1919C>A (p.Ser640Ter)
c.2099C>A (p.Ser700Ter)
c.1766C>A (p.Ser589Ter)
7g.117592176C=CA1737394457CFTRc.2009C= (p.Ser670=)
c.*1723C= (n.*1723C=)
c.1826C= (p.Ser609=)
c.*309C= (n.*309C=)
c.*1833C= (n.*1833C=)
c.1583C= (p.Ser528=)
c.1402-10650C= (n.1402-10650C=)
c.1919C= (p.Ser640=)
c.2099C= (p.Ser700=)
c.1766C= (p.Ser589=)
7g.117592176C>GCA368979205CFTRc.2009C>G (p.Ser670Ter)
c.*1723C>G (n.*1723C>G)
c.1826C>G (p.Ser609Ter)
c.*309C>G (n.*309C>G)
c.*1833C>G (n.*1833C>G)
c.1583C>G (p.Ser528Ter)
c.1402-10650C>G (n.1402-10650C>G)
c.1919C>G (p.Ser640Ter)
c.2099C>G (p.Ser700Ter)
c.1766C>G (p.Ser589Ter)
7g.117592176C>TCA368979208CFTRc.2009C>T (p.Ser670Leu)
c.*1723C>T (n.*1723C>T)
c.1826C>T (p.Ser609Leu)
c.*309C>T (n.*309C>T)
c.*1833C>T (n.*1833C>T)
c.1583C>T (p.Ser528Leu)
c.1402-10650C>T (n.1402-10650C>T)
c.1919C>T (p.Ser640Leu)
c.2099C>T (p.Ser700Leu)
c.1766C>T (p.Ser589Leu)
 ClinVar
7g.117592177A>CCA457448995CFTRc.2010A>C (p.Ser670=)
c.*1724A>C (n.*1724A>C)
c.1827A>C (p.Ser609=)
c.*310A>C (n.*310A>C)
c.*1834A>C (n.*1834A>C)
c.1584A>C (p.Ser528=)
c.1402-10649A>C (n.1402-10649A>C)
c.1920A>C (p.Ser640=)
c.2100A>C (p.Ser700=)
c.1767A>C (p.Ser589=)
 ClinVar
7g.117592177A>GCA457448994CFTRc.2010A>G (p.Ser670=)
c.*1724A>G (n.*1724A>G)
c.1827A>G (p.Ser609=)
c.*310A>G (n.*310A>G)
c.*1834A>G (n.*1834A>G)
c.1584A>G (p.Ser528=)
c.1402-10649A>G (n.1402-10649A>G)
c.1920A>G (p.Ser640=)
c.2100A>G (p.Ser700=)
c.1767A>G (p.Ser589=)
7g.117592177A>TCA457448993CFTRc.2010A>T (p.Ser670=)
c.*1724A>T (n.*1724A>T)
c.1827A>T (p.Ser609=)
c.*310A>T (n.*310A>T)
c.*1834A>T (n.*1834A>T)
c.1584A>T (p.Ser528=)
c.1402-10649A>T (n.1402-10649A>T)
c.1920A>T (p.Ser640=)
c.2100A>T (p.Ser700=)
c.1767A>T (p.Ser589=)
7g.117592177dupCA326727CFTRc.2010dup (p.Leu671IlefsTer18)
c.*1724dup (n.*1724dup)
c.1827dup (p.Leu610IlefsTer18)
c.*310dup (n.*310dup)
c.*1834dup (n.*1834dup)
c.1584dup (p.Leu529IlefsTer18)
c.1402-10649dup (n.1402-10649dup)
c.1920dup (p.Leu641IlefsTer18)
c.2100dup (p.Leu701IlefsTer18)
c.1767dup (p.Leu590IlefsTer18)
 dbSNP
7g.117592177_117592178delinsATCA1737394460CFTRc.2010_2011delinsAT (p.Ser670=)
c.*1724_*1725delinsAT (n.*1724_*1725delinsAT)
c.1827_1828delinsAT (p.Ser609=)
c.*310_*311delinsAT (n.*310_*311delinsAT)
c.*1834_*1835delinsAT (n.*1834_*1835delinsAT)
c.1584_1585delinsAT (p.Ser528=)
c.1402-10649_1402-10648delinsAT (n.1402-10649_1402-10648delinsAT)
c.1920_1921delinsAT (p.Ser640=)
c.2100_2101delinsAT (p.Ser700=)
c.1767_1768delinsAT (p.Ser589=)
7g.117592178T>ACA368979209CFTRc.2011T>A (p.Leu671Ile)
c.*1725T>A (n.*1725T>A)
c.1828T>A (p.Leu610Ile)
c.*311T>A (n.*311T>A)
c.*1835T>A (n.*1835T>A)
c.1585T>A (p.Leu529Ile)
c.1402-10648T>A (n.1402-10648T>A)
c.1921T>A (p.Leu641Ile)
c.2101T>A (p.Leu701Ile)
c.1768T>A (p.Leu590Ile)
7g.117592178T>CCA457448996CFTRc.2011T>C (p.Leu671=)
c.*1725T>C (n.*1725T>C)
c.1828T>C (p.Leu610=)
c.*311T>C (n.*311T>C)
c.*1835T>C (n.*1835T>C)
c.1585T>C (p.Leu529=)
c.1402-10648T>C (n.1402-10648T>C)
c.1921T>C (p.Leu641=)
c.2101T>C (p.Leu701=)
c.1768T>C (p.Leu590=)
7g.117592178T>GCA368979211CFTRc.2011T>G (p.Leu671Val)
c.*1725T>G (n.*1725T>G)
c.1828T>G (p.Leu610Val)
c.*311T>G (n.*311T>G)
c.*1835T>G (n.*1835T>G)
c.1585T>G (p.Leu529Val)
c.1402-10648T>G (n.1402-10648T>G)
c.1921T>G (p.Leu641Val)
c.2101T>G (p.Leu701Val)
c.1768T>G (p.Leu590Val)
7g.117592179delCA342837CFTRc.2012del (p.Leu671Ter)
c.*1726del (n.*1726del)
c.1829del (p.Leu610Ter)
c.*312del (n.*312del)
c.*1836del (n.*1836del)
c.1586del (p.Leu529Ter)
c.1402-10647del (n.1402-10647del)
c.1922del (p.Leu641Ter)
c.2102del (p.Leu701Ter)
c.1769del (p.Leu590Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117592179T>ACA368979220CFTRc.2012T>A (p.Leu671Ter)
c.*1726T>A (n.*1726T>A)
c.1829T>A (p.Leu610Ter)
c.*312T>A (n.*312T>A)
c.*1836T>A (n.*1836T>A)
c.1586T>A (p.Leu529Ter)
c.1402-10647T>A (n.1402-10647T>A)
c.1922T>A (p.Leu641Ter)
c.2102T>A (p.Leu701Ter)
c.1769T>A (p.Leu590Ter)
 ClinVar dbSNP
7g.117592179T>CCA368979218CFTRc.2012T>C (p.Leu671Ser)
c.*1726T>C (n.*1726T>C)
c.1829T>C (p.Leu610Ser)
c.*312T>C (n.*312T>C)
c.*1836T>C (n.*1836T>C)
c.1586T>C (p.Leu529Ser)
c.1402-10647T>C (n.1402-10647T>C)
c.1922T>C (p.Leu641Ser)
c.2102T>C (p.Leu701Ser)
c.1769T>C (p.Leu590Ser)
 COSMIC
7g.117592179T>GCA368979222CFTRc.2012T>G (p.Leu671Ter)
c.*1726T>G (n.*1726T>G)
c.1829T>G (p.Leu610Ter)
c.*312T>G (n.*312T>G)
c.*1836T>G (n.*1836T>G)
c.1586T>G (p.Leu529Ter)
c.1402-10647T>G (n.1402-10647T>G)
c.1922T>G (p.Leu641Ter)
c.2102T>G (p.Leu701Ter)
c.1769T>G (p.Leu590Ter)
7g.117592179_117592182delinsTAGACA1737394470CFTRc.2012_2015delinsTAGA (p.Leu671=)
c.*1726_*1729delinsTAGA (n.*1726_*1729delinsTAGA)
c.1829_1832delinsTAGA (p.Leu610=)
c.*312_*315delinsTAGA (n.*312_*315delinsTAGA)
c.*1836_*1839delinsTAGA (n.*1836_*1839delinsTAGA)
c.1586_1589delinsTAGA (p.Leu529=)
c.1402-10647_1402-10644delinsTAGA (n.1402-10647_1402-10644delinsTAGA)
c.1922_1925delinsTAGA (p.Leu641=)
c.2102_2105delinsTAGA (p.Leu701=)
c.1769_1772delinsTAGA (p.Leu590=)
7g.117592180A>CCA368979228CFTRc.2013A>C (p.Leu671Phe)
c.*1727A>C (n.*1727A>C)
c.1830A>C (p.Leu610Phe)
c.*313A>C (n.*313A>C)
c.*1837A>C (n.*1837A>C)
c.1587A>C (p.Leu529Phe)
c.1402-10646A>C (n.1402-10646A>C)
c.1923A>C (p.Leu641Phe)
c.2103A>C (p.Leu701Phe)
c.1770A>C (p.Leu590Phe)
7g.117592180A>GCA457448997CFTRc.2013A>G (p.Leu671=)
c.*1727A>G (n.*1727A>G)
c.1830A>G (p.Leu610=)
c.*313A>G (n.*313A>G)
c.*1837A>G (n.*1837A>G)
c.1587A>G (p.Leu529=)
c.1402-10646A>G (n.1402-10646A>G)
c.1923A>G (p.Leu641=)
c.2103A>G (p.Leu701=)
c.1770A>G (p.Leu590=)
 gnomAD v4
7g.117592180A>TCA368979226CFTRc.2013A>T (p.Leu671Phe)
c.*1727A>T (n.*1727A>T)
c.1830A>T (p.Leu610Phe)
c.*313A>T (n.*313A>T)
c.*1837A>T (n.*1837A>T)
c.1587A>T (p.Leu529Phe)
c.1402-10646A>T (n.1402-10646A>T)
c.1923A>T (p.Leu641Phe)
c.2103A>T (p.Leu701Phe)
c.1770A>T (p.Leu590Phe)
7g.117592182_117592184delCA326728CFTRc.2015_2017del (p.Glu672del)
c.*1729_*1731del (n.*1729_*1731del)
c.1832_1834del (p.Glu611del)
c.*315_*317del (n.*315_*317del)
c.*1839_*1841del (n.*1839_*1841del)
c.1589_1591del (p.Glu530del)
c.1402-10644_1402-10642del (n.1402-10644_1402-10642del)
c.1925_1927del (p.Glu642del)
c.2105_2107del (p.Glu702del)
c.1772_1774del (p.Glu591del)
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.117592181G>ACA4451126CFTRc.2014G>A (p.Glu672Lys)
c.*1728G>A (n.*1728G>A)
c.1831G>A (p.Glu611Lys)
c.*314G>A (n.*314G>A)
c.*1838G>A (n.*1838G>A)
c.1588G>A (p.Glu530Lys)
c.1402-10645G>A (n.1402-10645G>A)
c.1924G>A (p.Glu642Lys)
c.2104G>A (p.Glu702Lys)
c.1771G>A (p.Glu591Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.117592181G>CCA368979232CFTRc.2014G>C (p.Glu672Gln)
c.*1728G>C (n.*1728G>C)
c.1831G>C (p.Glu611Gln)
c.*314G>C (n.*314G>C)
c.*1838G>C (n.*1838G>C)
c.1588G>C (p.Glu530Gln)
c.1402-10645G>C (n.1402-10645G>C)
c.1924G>C (p.Glu642Gln)
c.2104G>C (p.Glu702Gln)
c.1771G>C (p.Glu591Gln)
7g.117592181G=CA1737394477CFTRc.2014G= (p.Glu672=)
c.*1728G= (n.*1728G=)
c.1831G= (p.Glu611=)
c.*314G= (n.*314G=)
c.*1838G= (n.*1838G=)
c.1588G= (p.Glu530=)
c.1402-10645G= (n.1402-10645G=)
c.1924G= (p.Glu642=)
c.2104G= (p.Glu702=)
c.1771G= (p.Glu591=)
7g.117592181G>TCA368979234CFTRc.2014G>T (p.Glu672Ter)
c.*1728G>T (n.*1728G>T)
c.1831G>T (p.Glu611Ter)
c.*314G>T (n.*314G>T)
c.*1838G>T (n.*1838G>T)
c.1588G>T (p.Glu530Ter)
c.1402-10645G>T (n.1402-10645G>T)
c.1924G>T (p.Glu642Ter)
c.2104G>T (p.Glu702Ter)
c.1771G>T (p.Glu591Ter)
7g.117592182A>CCA368979238CFTRc.2015A>C (p.Glu672Ala)
c.*1729A>C (n.*1729A>C)
c.1832A>C (p.Glu611Ala)
c.*315A>C (n.*315A>C)
c.*1839A>C (n.*1839A>C)
c.1589A>C (p.Glu530Ala)
c.1402-10644A>C (n.1402-10644A>C)
c.1925A>C (p.Glu642Ala)
c.2105A>C (p.Glu702Ala)
c.1772A>C (p.Glu591Ala)
 gnomAD v4
7g.117592182A>GCA368979240CFTRc.2015A>G (p.Glu672Gly)
c.*1729A>G (n.*1729A>G)
c.1832A>G (p.Glu611Gly)
c.*315A>G (n.*315A>G)
c.*1839A>G (n.*1839A>G)
c.1589A>G (p.Glu530Gly)
c.1402-10644A>G (n.1402-10644A>G)
c.1925A>G (p.Glu642Gly)
c.2105A>G (p.Glu702Gly)
c.1772A>G (p.Glu591Gly)
7g.117592182A>TCA368979242CFTRc.2015A>T (p.Glu672Val)
c.*1729A>T (n.*1729A>T)
c.1832A>T (p.Glu611Val)
c.*315A>T (n.*315A>T)
c.*1839A>T (n.*1839A>T)
c.1589A>T (p.Glu530Val)
c.1402-10644A>T (n.1402-10644A>T)
c.1925A>T (p.Glu642Val)
c.2105A>T (p.Glu702Val)
c.1772A>T (p.Glu591Val)
7g.117592183A=CA1737394479CFTRc.2016A= (p.Glu672=)
c.*1730A= (n.*1730A=)
c.1833A= (p.Glu611=)
c.*316A= (n.*316A=)
c.*1840A= (n.*1840A=)
c.1590A= (p.Glu530=)
c.1402-10643A= (n.1402-10643A=)
c.1926A= (p.Glu642=)
c.2106A= (p.Glu702=)
c.1773A= (p.Glu591=)
7g.117592183A>CCA368979243CFTRc.2016A>C (p.Glu672Asp)
c.*1730A>C (n.*1730A>C)
c.1833A>C (p.Glu611Asp)
c.*316A>C (n.*316A>C)
c.*1840A>C (n.*1840A>C)
c.1590A>C (p.Glu530Asp)
c.1402-10643A>C (n.1402-10643A>C)
c.1926A>C (p.Glu642Asp)
c.2106A>C (p.Glu702Asp)
c.1773A>C (p.Glu591Asp)
7g.117592183A>GCA457448998CFTRc.2016A>G (p.Glu672=)
c.*1730A>G (n.*1730A>G)
c.1833A>G (p.Glu611=)
c.*316A>G (n.*316A>G)
c.*1840A>G (n.*1840A>G)
c.1590A>G (p.Glu530=)
c.1402-10643A>G (n.1402-10643A>G)
c.1926A>G (p.Glu642=)
c.2106A>G (p.Glu702=)
c.1773A>G (p.Glu591=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
7g.117592183A>TCA368979249CFTRc.2016A>T (p.Glu672Asp)
c.*1730A>T (n.*1730A>T)
c.1833A>T (p.Glu611Asp)
c.*316A>T (n.*316A>T)
c.*1840A>T (n.*1840A>T)
c.1590A>T (p.Glu530Asp)
c.1402-10643A>T (n.1402-10643A>T)
c.1926A>T (p.Glu642Asp)
c.2106A>T (p.Glu702Asp)
c.1773A>T (p.Glu591Asp)
7g.117592184G>ACA368979251CFTRc.2017G>A (p.Gly673Arg)
c.*1731G>A (n.*1731G>A)
c.1834G>A (p.Gly612Arg)
c.*317G>A (n.*317G>A)
c.*1841G>A (n.*1841G>A)
c.1591G>A (p.Gly531Arg)
c.1402-10642G>A (n.1402-10642G>A)
c.1927G>A (p.Gly643Arg)
c.2107G>A (p.Gly703Arg)
c.1774G>A (p.Gly592Arg)
 ClinVar dbSNP gnomAD v3 gnomAD v4
7g.117592184G>CCA368979254CFTRc.2017G>C (p.Gly673Arg)
c.*1731G>C (n.*1731G>C)
c.1834G>C (p.Gly612Arg)
c.*317G>C (n.*317G>C)
c.*1841G>C (n.*1841G>C)
c.1591G>C (p.Gly531Arg)
c.1402-10642G>C (n.1402-10642G>C)
c.1927G>C (p.Gly643Arg)
c.2107G>C (p.Gly703Arg)
c.1774G>C (p.Gly592Arg)
7g.117592184G=CA1737394484CFTRc.2017G= (p.Gly673=)
c.*1731G= (n.*1731G=)
c.1834G= (p.Gly612=)
c.*317G= (n.*317G=)
c.*1841G= (n.*1841G=)
c.1591G= (p.Gly531=)
c.1402-10642G= (n.1402-10642G=)
c.1927G= (p.Gly643=)
c.2107G= (p.Gly703=)
c.1774G= (p.Gly592=)
7g.117592184G>TCA326730CFTRc.2017G>T (p.Gly673Ter)
c.*1731G>T (n.*1731G>T)
c.1834G>T (p.Gly612Ter)
c.*317G>T (n.*317G>T)
c.*1841G>T (n.*1841G>T)
c.1591G>T (p.Gly531Ter)
c.1402-10642G>T (n.1402-10642G>T)
c.1927G>T (p.Gly643Ter)
c.2107G>T (p.Gly703Ter)
c.1774G>T (p.Gly592Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.117592185G>ACA368979260CFTRc.2018G>A (p.Gly673Glu)
c.*1732G>A (n.*1732G>A)
c.1835G>A (p.Gly612Glu)
c.*318G>A (n.*318G>A)
c.*1842G>A (n.*1842G>A)
c.1592G>A (p.Gly531Glu)
c.1402-10641G>A (n.1402-10641G>A)
c.1928G>A (p.Gly643Glu)
c.2108G>A (p.Gly703Glu)
c.1775G>A (p.Gly592Glu)
7g.117592185G>CCA368979255CFTRc.2018G>C (p.Gly673Ala)
c.*1732G>C (n.*1732G>C)
c.1835G>C (p.Gly612Ala)
c.*318G>C (n.*318G>C)
c.*1842G>C (n.*1842G>C)
c.1592G>C (p.Gly531Ala)
c.1402-10641G>C (n.1402-10641G>C)
c.1928G>C (p.Gly643Ala)
c.2108G>C (p.Gly703Ala)
c.1775G>C (p.Gly592Ala)
7g.117592185G>TCA368979258CFTRc.2018G>T (p.Gly673Val)
c.*1732G>T (n.*1732G>T)
c.1835G>T (p.Gly612Val)
c.*318G>T (n.*318G>T)
c.*1842G>T (n.*1842G>T)
c.1592G>T (p.Gly531Val)
c.1402-10641G>T (n.1402-10641G>T)
c.1928G>T (p.Gly643Val)
c.2108G>T (p.Gly703Val)
c.1775G>T (p.Gly592Val)
7g.117592186A>CCA457449000CFTRc.2019A>C (p.Gly673=)
c.*1733A>C (n.*1733A>C)
c.1836A>C (p.Gly612=)
c.*319A>C (n.*319A>C)
c.*1843A>C (n.*1843A>C)
c.1593A>C (p.Gly531=)
c.1402-10640A>C (n.1402-10640A>C)
c.1929A>C (p.Gly643=)
c.2109A>C (p.Gly703=)
c.1776A>C (p.Gly592=)
7g.117592186A>GCA457449001CFTRc.2019A>G (p.Gly673=)
c.*1733A>G (n.*1733A>G)
c.1836A>G (p.Gly612=)
c.*319A>G (n.*319A>G)
c.*1843A>G (n.*1843A>G)
c.1593A>G (p.Gly531=)
c.1402-10640A>G (n.1402-10640A>G)
c.1929A>G (p.Gly643=)
c.2109A>G (p.Gly703=)
c.1776A>G (p.Gly592=)
 ClinVar dbSNP
7g.117592186A>TCA457448999CFTRc.2019A>T (p.Gly673=)
c.*1733A>T (n.*1733A>T)
c.1836A>T (p.Gly612=)
c.*319A>T (n.*319A>T)
c.*1843A>T (n.*1843A>T)
c.1593A>T (p.Gly531=)
c.1402-10640A>T (n.1402-10640A>T)
c.1929A>T (p.Gly643=)
c.2109A>T (p.Gly703=)
c.1776A>T (p.Gly592=)
7g.117592186_117592189dupCA2825001521CFTRc.2019_2022dup (p.Ala675ArgfsTer15)
c.*1733_*1736dup (n.*1733_*1736dup)
c.1836_1839dup (p.Ala614ArgfsTer15)
c.*319_*322dup (n.*319_*322dup)
c.*1843_*1846dup (n.*1843_*1846dup)
c.1593_1596dup (p.Ala533ArgfsTer15)
c.1402-10640_1402-10637dup (n.1402-10640_1402-10637dup)
c.1929_1932dup (p.Ala645ArgfsTer15)
c.2109_2112dup (p.Ala705ArgfsTer15)
c.1776_1779dup (p.Ala594ArgfsTer15)
 ClinVar
7g.117592187G>ACA368979261CFTRc.2020G>A (p.Asp674Asn)
c.*1734G>A (n.*1734G>A)
c.1837G>A (p.Asp613Asn)
c.*320G>A (n.*320G>A)
c.*1844G>A (n.*1844G>A)
c.1594G>A (p.Asp532Asn)
c.1402-10639G>A (n.1402-10639G>A)
c.1930G>A (p.Asp644Asn)
c.2110G>A (p.Asp704Asn)
c.1777G>A (p.Asp593Asn)
7g.117592187G>CCA368979262CFTRc.2020G>C (p.Asp674His)
c.*1734G>C (n.*1734G>C)
c.1837G>C (p.Asp613His)
c.*320G>C (n.*320G>C)
c.*1844G>C (n.*1844G>C)
c.1594G>C (p.Asp532His)
c.1402-10639G>C (n.1402-10639G>C)
c.1930G>C (p.Asp644His)
c.2110G>C (p.Asp704His)
c.1777G>C (p.Asp593His)
7g.117592187G=CA1737394490CFTRc.2020G= (p.Asp674=)
c.*1734G= (n.*1734G=)
c.1837G= (p.Asp613=)
c.*320G= (n.*320G=)
c.*1844G= (n.*1844G=)
c.1594G= (p.Asp532=)
c.1402-10639G= (n.1402-10639G=)
c.1930G= (p.Asp644=)
c.2110G= (p.Asp704=)
c.1777G= (p.Asp593=)
7g.117592187G>TCA368979266CFTRc.2020G>T (p.Asp674Tyr)
c.*1734G>T (n.*1734G>T)
c.1837G>T (p.Asp613Tyr)
c.*320G>T (n.*320G>T)
c.*1844G>T (n.*1844G>T)
c.1594G>T (p.Asp532Tyr)
c.1402-10639G>T (n.1402-10639G>T)
c.1930G>T (p.Asp644Tyr)
c.2110G>T (p.Asp704Tyr)
c.1777G>T (p.Asp593Tyr)
 ClinVar dbSNP gnomAD v3 gnomAD v4
7g.117592188A=CA1737394494CFTRc.2021A= (p.Asp674=)
c.*1735A= (n.*1735A=)
c.1838A= (p.Asp613=)
c.*321A= (n.*321A=)
c.*1845A= (n.*1845A=)
c.1595A= (p.Asp532=)
c.1402-10638A= (n.1402-10638A=)
c.1931A= (p.Asp644=)
c.2111A= (p.Asp704=)
c.1778A= (p.Asp593=)
7g.117592188A>CCA368979268CFTRc.2021A>C (p.Asp674Ala)
c.*1735A>C (n.*1735A>C)
c.1838A>C (p.Asp613Ala)
c.*321A>C (n.*321A>C)
c.*1845A>C (n.*1845A>C)
c.1595A>C (p.Asp532Ala)
c.1402-10638A>C (n.1402-10638A>C)
c.1931A>C (p.Asp644Ala)
c.2111A>C (p.Asp704Ala)
c.1778A>C (p.Asp593Ala)
7g.117592188A>GCA4451127CFTRc.2021A>G (p.Asp674Gly)
c.*1735A>G (n.*1735A>G)
c.1838A>G (p.Asp613Gly)
c.*321A>G (n.*321A>G)
c.*1845A>G (n.*1845A>G)
c.1595A>G (p.Asp532Gly)
c.1402-10638A>G (n.1402-10638A>G)
c.1931A>G (p.Asp644Gly)
c.2111A>G (p.Asp704Gly)
c.1778A>G (p.Asp593Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.117592188A>TCA4451128CFTRc.2021A>T (p.Asp674Val)
c.*1735A>T (n.*1735A>T)
c.1838A>T (p.Asp613Val)
c.*321A>T (n.*321A>T)
c.*1845A>T (n.*1845A>T)
c.1595A>T (p.Asp532Val)
c.1402-10638A>T (n.1402-10638A>T)
c.1931A>T (p.Asp644Val)
c.2111A>T (p.Asp704Val)
c.1778A>T (p.Asp593Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.117592189T>ACA368979282CFTRc.2022T>A (p.Asp674Glu)
c.*1736T>A (n.*1736T>A)
c.1839T>A (p.Asp613Glu)
c.*322T>A (n.*322T>A)
c.*1846T>A (n.*1846T>A)
c.1596T>A (p.Asp532Glu)
c.1402-10637T>A (n.1402-10637T>A)
c.1932T>A (p.Asp644Glu)
c.2112T>A (p.Asp704Glu)
c.1779T>A (p.Asp593Glu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.117592189T>CCA457449002CFTRc.2022T>C (p.Asp674=)
c.*1736T>C (n.*1736T>C)
c.1839T>C (p.Asp613=)
c.*322T>C (n.*322T>C)
c.*1846T>C (n.*1846T>C)
c.1596T>C (p.Asp532=)
c.1402-10637T>C (n.1402-10637T>C)
c.1932T>C (p.Asp644=)
c.2112T>C (p.Asp704=)
c.1779T>C (p.Asp593=)
 ClinVar dbSNP
7g.117592189T>GCA368979283CFTRc.2022T>G (p.Asp674Glu)
c.*1736T>G (n.*1736T>G)
c.1839T>G (p.Asp613Glu)
c.*322T>G (n.*322T>G)
c.*1846T>G (n.*1846T>G)
c.1596T>G (p.Asp532Glu)
c.1402-10637T>G (n.1402-10637T>G)
c.1932T>G (p.Asp644Glu)
c.2112T>G (p.Asp704Glu)
c.1779T>G (p.Asp593Glu)
7g.117592189T=CA1737394499CFTRc.2022T= (p.Asp674=)
c.*1736T= (n.*1736T=)
c.1839T= (p.Asp613=)
c.*322T= (n.*322T=)
c.*1846T= (n.*1846T=)
c.1596T= (p.Asp532=)
c.1402-10637T= (n.1402-10637T=)
c.1932T= (p.Asp644=)
c.2112T= (p.Asp704=)
c.1779T= (p.Asp593=)
7g.117592190G>ACA368979285CFTRc.2023G>A (p.Ala675Thr)
c.*1737G>A (n.*1737G>A)
c.1840G>A (p.Ala614Thr)
c.*323G>A (n.*323G>A)
c.*1847G>A (n.*1847G>A)
c.1597G>A (p.Ala533Thr)
c.1402-10636G>A (n.1402-10636G>A)
c.1933G>A (p.Ala645Thr)
c.2113G>A (p.Ala705Thr)
c.1780G>A (p.Ala594Thr)
7g.117592190G>CCA368979287CFTRc.2023G>C (p.Ala675Pro)
c.*1737G>C (n.*1737G>C)
c.1840G>C (p.Ala614Pro)
c.*323G>C (n.*323G>C)
c.*1847G>C (n.*1847G>C)
c.1597G>C (p.Ala533Pro)
c.1402-10636G>C (n.1402-10636G>C)
c.1933G>C (p.Ala645Pro)
c.2113G>C (p.Ala705Pro)
c.1780G>C (p.Ala594Pro)
7g.117592190G>TCA368979289CFTRc.2023G>T (p.Ala675Ser)
c.*1737G>T (n.*1737G>T)
c.1840G>T (p.Ala614Ser)
c.*323G>T (n.*323G>T)
c.*1847G>T (n.*1847G>T)
c.1597G>T (p.Ala533Ser)
c.1402-10636G>T (n.1402-10636G>T)
c.1933G>T (p.Ala645Ser)
c.2113G>T (p.Ala705Ser)
c.1780G>T (p.Ala594Ser)
7g.117592191C>ACA368979292CFTRc.2024C>A (p.Ala675Asp)
c.*1738C>A (n.*1738C>A)
c.1841C>A (p.Ala614Asp)
c.*324C>A (n.*324C>A)
c.*1848C>A (n.*1848C>A)
c.1598C>A (p.Ala533Asp)
c.1402-10635C>A (n.1402-10635C>A)
c.1934C>A (p.Ala645Asp)
c.2114C>A (p.Ala705Asp)
c.1781C>A (p.Ala594Asp)
7g.117592191C=CA1737394506CFTRc.2024C= (p.Ala675=)
c.*1738C= (n.*1738C=)
c.1841C= (p.Ala614=)
c.*324C= (n.*324C=)
c.*1848C= (n.*1848C=)
c.1598C= (p.Ala533=)
c.1402-10635C= (n.1402-10635C=)
c.1934C= (p.Ala645=)
c.2114C= (p.Ala705=)
c.1781C= (p.Ala594=)
7g.117592191C>GCA368979293CFTRc.2024C>G (p.Ala675Gly)
c.*1738C>G (n.*1738C>G)
c.1841C>G (p.Ala614Gly)
c.*324C>G (n.*324C>G)
c.*1848C>G (n.*1848C>G)
c.1598C>G (p.Ala533Gly)
c.1402-10635C>G (n.1402-10635C>G)
c.1934C>G (p.Ala645Gly)
c.2114C>G (p.Ala705Gly)
c.1781C>G (p.Ala594Gly)
7g.117592191C>TCA368979291CFTRc.2024C>T (p.Ala675Val)
c.*1738C>T (n.*1738C>T)
c.1841C>T (p.Ala614Val)
c.*324C>T (n.*324C>T)
c.*1848C>T (n.*1848C>T)
c.1598C>T (p.Ala533Val)
c.1402-10635C>T (n.1402-10635C>T)
c.1934C>T (p.Ala645Val)
c.2114C>T (p.Ala705Val)
c.1781C>T (p.Ala594Val)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
7g.117592192T>ACA457449003CFTRc.2025T>A (p.Ala675=)
c.*1739T>A (n.*1739T>A)
c.1842T>A (p.Ala614=)
c.*325T>A (n.*325T>A)
c.*1849T>A (n.*1849T>A)
c.1599T>A (p.Ala533=)
c.1402-10634T>A (n.1402-10634T>A)
c.1935T>A (p.Ala645=)
c.2115T>A (p.Ala705=)
c.1782T>A (p.Ala594=)
7g.117592192T>CCA457449004CFTRc.2025T>C (p.Ala675=)
c.*1739T>C (n.*1739T>C)
c.1842T>C (p.Ala614=)
c.*325T>C (n.*325T>C)
c.*1849T>C (n.*1849T>C)
c.1599T>C (p.Ala533=)
c.1402-10634T>C (n.1402-10634T>C)
c.1935T>C (p.Ala645=)
c.2115T>C (p.Ala705=)
c.1782T>C (p.Ala594=)
7g.117592192T>GCA457449005CFTRc.2025T>G (p.Ala675=)
c.*1739T>G (n.*1739T>G)
c.1842T>G (p.Ala614=)
c.*325T>G (n.*325T>G)
c.*1849T>G (n.*1849T>G)
c.1599T>G (p.Ala533=)
c.1402-10634T>G (n.1402-10634T>G)
c.1935T>G (p.Ala645=)
c.2115T>G (p.Ala705=)
c.1782T>G (p.Ala594=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
7g.117592192T=CA1737394508CFTRc.2025T= (p.Ala675=)
c.*1739T= (n.*1739T=)
c.1842T= (p.Ala614=)
c.*325T= (n.*325T=)
c.*1849T= (n.*1849T=)
c.1599T= (p.Ala533=)
c.1402-10634T= (n.1402-10634T=)
c.1935T= (p.Ala645=)
c.2115T= (p.Ala705=)
c.1782T= (p.Ala594=)
7g.117592193C>ACA368979295CFTRc.2026C>A (p.Pro676Thr)
c.*1740C>A (n.*1740C>A)
c.1843C>A (p.Pro615Thr)
c.*326C>A (n.*326C>A)
c.*1850C>A (n.*1850C>A)
c.1600C>A (p.Pro534Thr)
c.1402-10633C>A (n.1402-10633C>A)
c.1936C>A (p.Pro646Thr)
c.2116C>A (p.Pro706Thr)
c.1783C>A (p.Pro595Thr)
 gnomAD v4
7g.117592193C=CA1737394515CFTRc.2026C= (p.Pro676=)
c.*1740C= (n.*1740C=)
c.1843C= (p.Pro615=)
c.*326C= (n.*326C=)
c.*1850C= (n.*1850C=)
c.1600C= (p.Pro534=)
c.1402-10633C= (n.1402-10633C=)
c.1936C= (p.Pro646=)
c.2116C= (p.Pro706=)
c.1783C= (p.Pro595=)
7g.117592193C>GCA4451129CFTRc.2026C>G (p.Pro676Ala)
c.*1740C>G (n.*1740C>G)
c.1843C>G (p.Pro615Ala)
c.*326C>G (n.*326C>G)
c.*1850C>G (n.*1850C>G)
c.1600C>G (p.Pro534Ala)
c.1402-10633C>G (n.1402-10633C>G)
c.1936C>G (p.Pro646Ala)
c.2116C>G (p.Pro706Ala)
c.1783C>G (p.Pro595Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.117592193C>TCA4451130CFTRc.2026C>T (p.Pro676Ser)
c.*1740C>T (n.*1740C>T)
c.1843C>T (p.Pro615Ser)
c.*326C>T (n.*326C>T)
c.*1850C>T (n.*1850C>T)
c.1600C>T (p.Pro534Ser)
c.1402-10633C>T (n.1402-10633C>T)
c.1936C>T (p.Pro646Ser)
c.2116C>T (p.Pro706Ser)
c.1783C>T (p.Pro595Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117592194C>ACA368979298CFTRc.2027C>A (p.Pro676His)
c.*1741C>A (n.*1741C>A)
c.1844C>A (p.Pro615His)
c.*327C>A (n.*327C>A)
c.*1851C>A (n.*1851C>A)
c.1601C>A (p.Pro534His)
c.1402-10632C>A (n.1402-10632C>A)
c.1937C>A (p.Pro646His)
c.2117C>A (p.Pro706His)
c.1784C>A (p.Pro595His)
7g.117592194C>GCA368979300CFTRc.2027C>G (p.Pro676Arg)
c.*1741C>G (n.*1741C>G)
c.1844C>G (p.Pro615Arg)
c.*327C>G (n.*327C>G)
c.*1851C>G (n.*1851C>G)
c.1601C>G (p.Pro534Arg)
c.1402-10632C>G (n.1402-10632C>G)
c.1937C>G (p.Pro646Arg)
c.2117C>G (p.Pro706Arg)
c.1784C>G (p.Pro595Arg)
7g.117592194C>TCA368979302CFTRc.2027C>T (p.Pro676Leu)
c.*1741C>T (n.*1741C>T)
c.1844C>T (p.Pro615Leu)
c.*327C>T (n.*327C>T)
c.*1851C>T (n.*1851C>T)
c.1601C>T (p.Pro534Leu)
c.1402-10632C>T (n.1402-10632C>T)
c.1937C>T (p.Pro646Leu)
c.2117C>T (p.Pro706Leu)
c.1784C>T (p.Pro595Leu)
7g.117592195T>ACA457449006CFTRc.2028T>A (p.Pro676=)
c.*1742T>A (n.*1742T>A)
c.1845T>A (p.Pro615=)
c.*328T>A (n.*328T>A)
c.*1852T>A (n.*1852T>A)
c.1602T>A (p.Pro534=)
c.1402-10631T>A (n.1402-10631T>A)
c.1938T>A (p.Pro646=)
c.2118T>A (p.Pro706=)
c.1785T>A (p.Pro595=)
7g.117592195T>CCA4451131CFTRc.2028T>C (p.Pro676=)
c.*1742T>C (n.*1742T>C)
c.1845T>C (p.Pro615=)
c.*328T>C (n.*328T>C)
c.*1852T>C (n.*1852T>C)
c.1602T>C (p.Pro534=)
c.1402-10631T>C (n.1402-10631T>C)
c.1938T>C (p.Pro646=)
c.2118T>C (p.Pro706=)
c.1785T>C (p.Pro595=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117592195T>GCA457449007CFTRc.2028T>G (p.Pro676=)
c.*1742T>G (n.*1742T>G)
c.1845T>G (p.Pro615=)
c.*328T>G (n.*328T>G)
c.*1852T>G (n.*1852T>G)
c.1602T>G (p.Pro534=)
c.1402-10631T>G (n.1402-10631T>G)
c.1938T>G (p.Pro646=)
c.2118T>G (p.Pro706=)
c.1785T>G (p.Pro595=)
7g.117592195T=CA1737394523CFTRc.2028T= (p.Pro676=)
c.*1742T= (n.*1742T=)
c.1845T= (p.Pro615=)
c.*328T= (n.*328T=)
c.*1852T= (n.*1852T=)
c.1602T= (p.Pro534=)
c.1402-10631T= (n.1402-10631T=)
c.1938T= (p.Pro646=)
c.2118T= (p.Pro706=)
c.1785T= (p.Pro595=)
7g.117592196G>ACA368979307CFTRc.2029G>A (p.Val677Ile)
c.*1743G>A (n.*1743G>A)
c.1846G>A (p.Val616Ile)
c.*329G>A (n.*329G>A)
c.*1853G>A (n.*1853G>A)
c.1603G>A (p.Val535Ile)
c.1402-10630G>A (n.1402-10630G>A)
c.1939G>A (p.Val647Ile)
c.2119G>A (p.Val707Ile)
c.1786G>A (p.Val596Ile)
7g.117592196G>CCA368979308CFTRc.2029G>C (p.Val677Leu)
c.*1743G>C (n.*1743G>C)
c.1846G>C (p.Val616Leu)
c.*329G>C (n.*329G>C)
c.*1853G>C (n.*1853G>C)
c.1603G>C (p.Val535Leu)
c.1402-10630G>C (n.1402-10630G>C)
c.1939G>C (p.Val647Leu)
c.2119G>C (p.Val707Leu)
c.1786G>C (p.Val596Leu)
7g.117592196G>TCA368979310CFTRc.2029G>T (p.Val677Phe)
c.*1743G>T (n.*1743G>T)
c.1846G>T (p.Val616Phe)
c.*329G>T (n.*329G>T)
c.*1853G>T (n.*1853G>T)
c.1603G>T (p.Val535Phe)
c.1402-10630G>T (n.1402-10630G>T)
c.1939G>T (p.Val647Phe)
c.2119G>T (p.Val707Phe)
c.1786G>T (p.Val596Phe)
7g.117592197T>ACA368979313CFTRc.2030T>A (p.Val677Asp)
c.*1744T>A (n.*1744T>A)
c.1847T>A (p.Val616Asp)
c.*330T>A (n.*330T>A)
c.*1854T>A (n.*1854T>A)
c.1604T>A (p.Val535Asp)
c.1402-10629T>A (n.1402-10629T>A)
c.1940T>A (p.Val647Asp)
c.2120T>A (p.Val707Asp)
c.1787T>A (p.Val596Asp)
 gnomAD v4
7g.117592197T>CCA368979315CFTRc.2030T>C (p.Val677Ala)
c.*1744T>C (n.*1744T>C)
c.1847T>C (p.Val616Ala)
c.*330T>C (n.*330T>C)
c.*1854T>C (n.*1854T>C)
c.1604T>C (p.Val535Ala)
c.1402-10629T>C (n.1402-10629T>C)
c.1940T>C (p.Val647Ala)
c.2120T>C (p.Val707Ala)
c.1787T>C (p.Val596Ala)
7g.117592197T>GCA368979317CFTRc.2030T>G (p.Val677Gly)
c.*1744T>G (n.*1744T>G)
c.1847T>G (p.Val616Gly)
c.*330T>G (n.*330T>G)
c.*1854T>G (n.*1854T>G)
c.1604T>G (p.Val535Gly)
c.1402-10629T>G (n.1402-10629T>G)
c.1940T>G (p.Val647Gly)
c.2120T>G (p.Val707Gly)
c.1787T>G (p.Val596Gly)
7g.117592198C>ACA457449008CFTRc.2031C>A (p.Val677=)
c.*1745C>A (n.*1745C>A)
c.1848C>A (p.Val616=)
c.*331C>A (n.*331C>A)
c.*1855C>A (n.*1855C>A)
c.1605C>A (p.Val535=)
c.1402-10628C>A (n.1402-10628C>A)
c.1941C>A (p.Val647=)
c.2121C>A (p.Val707=)
c.1788C>A (p.Val596=)
7g.117592198C>GCA457449010CFTRc.2031C>G (p.Val677=)
c.*1745C>G (n.*1745C>G)
c.1848C>G (p.Val616=)
c.*331C>G (n.*331C>G)
c.*1855C>G (n.*1855C>G)
c.1605C>G (p.Val535=)
c.1402-10628C>G (n.1402-10628C>G)
c.1941C>G (p.Val647=)
c.2121C>G (p.Val707=)
c.1788C>G (p.Val596=)
7g.117592198C>TCA457449009CFTRc.2031C>T (p.Val677=)
c.*1745C>T (n.*1745C>T)
c.1848C>T (p.Val616=)
c.*331C>T (n.*331C>T)
c.*1855C>T (n.*1855C>T)
c.1605C>T (p.Val535=)
c.1402-10628C>T (n.1402-10628C>T)
c.1941C>T (p.Val647=)
c.2121C>T (p.Val707=)
c.1788C>T (p.Val596=)
7g.117592199T>ACA368979319CFTRc.2032T>A (p.Ser678Thr)
c.*1746T>A (n.*1746T>A)
c.1849T>A (p.Ser617Thr)
c.*332T>A (n.*332T>A)
c.*1856T>A (n.*1856T>A)
c.1606T>A (p.Ser536Thr)
c.1402-10627T>A (n.1402-10627T>A)
c.1942T>A (p.Ser648Thr)
c.2122T>A (p.Ser708Thr)
c.1789T>A (p.Ser597Thr)
7g.117592199T>CCA368979323CFTRc.2032T>C (p.Ser678Pro)
c.*1746T>C (n.*1746T>C)
c.1849T>C (p.Ser617Pro)
c.*332T>C (n.*332T>C)
c.*1856T>C (n.*1856T>C)
c.1606T>C (p.Ser536Pro)
c.1402-10627T>C (n.1402-10627T>C)
c.1942T>C (p.Ser648Pro)
c.2122T>C (p.Ser708Pro)
c.1789T>C (p.Ser597Pro)
 gnomAD v4
7g.117592199T>GCA368979321CFTRc.2032T>G (p.Ser678Ala)
c.*1746T>G (n.*1746T>G)
c.1849T>G (p.Ser617Ala)
c.*332T>G (n.*332T>G)
c.*1856T>G (n.*1856T>G)
c.1606T>G (p.Ser536Ala)
c.1402-10627T>G (n.1402-10627T>G)
c.1942T>G (p.Ser648Ala)
c.2122T>G (p.Ser708Ala)
c.1789T>G (p.Ser597Ala)
7g.117592200C>ACA368979326CFTRc.2033C>A (p.Ser678Tyr)
c.*1747C>A (n.*1747C>A)
c.1850C>A (p.Ser617Tyr)
c.*333C>A (n.*333C>A)
c.*1857C>A (n.*1857C>A)
c.1607C>A (p.Ser536Tyr)
c.1402-10626C>A (n.1402-10626C>A)
c.1943C>A (p.Ser648Tyr)
c.2123C>A (p.Ser708Tyr)
c.1790C>A (p.Ser597Tyr)
7g.117592200C=CA1737394526CFTRc.2033C= (p.Ser678=)
c.*1747C= (n.*1747C=)
c.1850C= (p.Ser617=)
c.*333C= (n.*333C=)
c.*1857C= (n.*1857C=)
c.1607C= (p.Ser536=)
c.1402-10626C= (n.1402-10626C=)
c.1943C= (p.Ser648=)
c.2123C= (p.Ser708=)
c.1790C= (p.Ser597=)
7g.117592200C>GCA368979327CFTRc.2033C>G (p.Ser678Cys)
c.*1747C>G (n.*1747C>G)
c.1850C>G (p.Ser617Cys)
c.*333C>G (n.*333C>G)
c.*1857C>G (n.*1857C>G)
c.1607C>G (p.Ser536Cys)
c.1402-10626C>G (n.1402-10626C>G)
c.1943C>G (p.Ser648Cys)
c.2123C>G (p.Ser708Cys)
c.1790C>G (p.Ser597Cys)
7g.117592200C>TCA4451132CFTRc.2033C>T (p.Ser678Phe)
c.*1747C>T (n.*1747C>T)
c.1850C>T (p.Ser617Phe)
c.*333C>T (n.*333C>T)
c.*1857C>T (n.*1857C>T)
c.1607C>T (p.Ser536Phe)
c.1402-10626C>T (n.1402-10626C>T)
c.1943C>T (p.Ser648Phe)
c.2123C>T (p.Ser708Phe)
c.1790C>T (p.Ser597Phe)
 ClinVar dbSNP ExAC gnomAD v4
7g.117592201C>ACA457449011CFTRc.2034C>A (p.Ser678=)
c.*1748C>A (n.*1748C>A)
c.1851C>A (p.Ser617=)
c.*334C>A (n.*334C>A)
c.*1858C>A (n.*1858C>A)
c.1608C>A (p.Ser536=)
c.1402-10625C>A (n.1402-10625C>A)
c.1944C>A (p.Ser648=)
c.2124C>A (p.Ser708=)
c.1791C>A (p.Ser597=)
7g.117592201C>GCA457449012CFTRc.2034C>G (p.Ser678=)
c.*1748C>G (n.*1748C>G)
c.1851C>G (p.Ser617=)
c.*334C>G (n.*334C>G)
c.*1858C>G (n.*1858C>G)
c.1608C>G (p.Ser536=)
c.1402-10625C>G (n.1402-10625C>G)
c.1944C>G (p.Ser648=)
c.2124C>G (p.Ser708=)
c.1791C>G (p.Ser597=)
7g.117592201C>TCA457449013CFTRc.2034C>T (p.Ser678=)
c.*1748C>T (n.*1748C>T)
c.1851C>T (p.Ser617=)
c.*334C>T (n.*334C>T)
c.*1858C>T (n.*1858C>T)
c.1608C>T (p.Ser536=)
c.1402-10625C>T (n.1402-10625C>T)
c.1944C>T (p.Ser648=)
c.2124C>T (p.Ser708=)
c.1791C>T (p.Ser597=)
7g.117592202T>ACA368979333CFTRc.2035T>A (p.Trp679Arg)
c.*1749T>A (n.*1749T>A)
c.1852T>A (p.Trp618Arg)
c.*335T>A (n.*335T>A)
c.*1859T>A (n.*1859T>A)
c.1609T>A (p.Trp537Arg)
c.1402-10624T>A (n.1402-10624T>A)
c.1945T>A (p.Trp649Arg)
c.2125T>A (p.Trp709Arg)
c.1792T>A (p.Trp598Arg)
7g.117592202T>CCA368979334CFTRc.2035T>C (p.Trp679Arg)
c.*1749T>C (n.*1749T>C)
c.1852T>C (p.Trp618Arg)
c.*335T>C (n.*335T>C)
c.*1859T>C (n.*1859T>C)
c.1609T>C (p.Trp537Arg)
c.1402-10624T>C (n.1402-10624T>C)
c.1945T>C (p.Trp649Arg)
c.2125T>C (p.Trp709Arg)
c.1792T>C (p.Trp598Arg)
 ClinVar
7g.117592202T>GCA368979336CFTRc.2035T>G (p.Trp679Gly)
c.*1749T>G (n.*1749T>G)
c.1852T>G (p.Trp618Gly)
c.*335T>G (n.*335T>G)
c.*1859T>G (n.*1859T>G)
c.1609T>G (p.Trp537Gly)
c.1402-10624T>G (n.1402-10624T>G)
c.1945T>G (p.Trp649Gly)
c.2125T>G (p.Trp709Gly)
c.1792T>G (p.Trp598Gly)
7g.117592203G>ACA326734CFTRc.2036G>A (p.Trp679Ter)
c.*1750G>A (n.*1750G>A)
c.1853G>A (p.Trp618Ter)
c.*336G>A (n.*336G>A)
c.*1860G>A (n.*1860G>A)
c.1610G>A (p.Trp537Ter)
c.1402-10623G>A (n.1402-10623G>A)
c.1946G>A (p.Trp649Ter)
c.2126G>A (p.Trp709Ter)
c.1793G>A (p.Trp598Ter)
 ClinVar dbSNP
7g.117592203G>CCA368979338CFTRc.2036G>C (p.Trp679Ser)
c.*1750G>C (n.*1750G>C)
c.1853G>C (p.Trp618Ser)
c.*336G>C (n.*336G>C)
c.*1860G>C (n.*1860G>C)
c.1610G>C (p.Trp537Ser)
c.1402-10623G>C (n.1402-10623G>C)
c.1946G>C (p.Trp649Ser)
c.2126G>C (p.Trp709Ser)
c.1793G>C (p.Trp598Ser)
7g.117592203G=CA1737394531CFTRc.2036G= (p.Trp679=)
c.*1750G= (n.*1750G=)
c.1853G= (p.Trp618=)
c.*336G= (n.*336G=)
c.*1860G= (n.*1860G=)
c.1610G= (p.Trp537=)
c.1402-10623G= (n.1402-10623G=)
c.1946G= (p.Trp649=)
c.2126G= (p.Trp709=)
c.1793G= (p.Trp598=)
7g.117592203G>TCA368979340CFTRc.2036G>T (p.Trp679Leu)
c.*1750G>T (n.*1750G>T)
c.1853G>T (p.Trp618Leu)
c.*336G>T (n.*336G>T)
c.*1860G>T (n.*1860G>T)
c.1610G>T (p.Trp537Leu)
c.1402-10623G>T (n.1402-10623G>T)
c.1946G>T (p.Trp649Leu)
c.2126G>T (p.Trp709Leu)
c.1793G>T (p.Trp598Leu)
7g.117592204G>ACA368979342CFTRc.2037G>A (p.Trp679Ter)
c.*1751G>A (n.*1751G>A)
c.1854G>A (p.Trp618Ter)
c.*337G>A (n.*337G>A)
c.*1861G>A (n.*1861G>A)
c.1611G>A (p.Trp537Ter)
c.1402-10622G>A (n.1402-10622G>A)
c.1947G>A (p.Trp649Ter)
c.2127G>A (p.Trp709Ter)
c.1794G>A (p.Trp598Ter)
 gnomAD v4
7g.117592204G>CCA368979344CFTRc.2037G>C (p.Trp679Cys)
c.*1751G>C (n.*1751G>C)
c.1854G>C (p.Trp618Cys)
c.*337G>C (n.*337G>C)
c.*1861G>C (n.*1861G>C)
c.1611G>C (p.Trp537Cys)
c.1402-10622G>C (n.1402-10622G>C)
c.1947G>C (p.Trp649Cys)
c.2127G>C (p.Trp709Cys)
c.1794G>C (p.Trp598Cys)
7g.117592204G>TCA368979347CFTRc.2037G>T (p.Trp679Cys)
c.*1751G>T (n.*1751G>T)
c.1854G>T (p.Trp618Cys)
c.*337G>T (n.*337G>T)
c.*1861G>T (n.*1861G>T)
c.1611G>T (p.Trp537Cys)
c.1402-10622G>T (n.1402-10622G>T)
c.1947G>T (p.Trp649Cys)
c.2127G>T (p.Trp709Cys)
c.1794G>T (p.Trp598Cys)
7g.117592205A>CCA368979350CFTRc.2038A>C (p.Thr680Pro)
c.*1752A>C (n.*1752A>C)
c.1855A>C (p.Thr619Pro)
c.*338A>C (n.*338A>C)
c.*1862A>C (n.*1862A>C)
c.1612A>C (p.Thr538Pro)
c.1402-10621A>C (n.1402-10621A>C)
c.1948A>C (p.Thr650Pro)
c.2128A>C (p.Thr710Pro)
c.1795A>C (p.Thr599Pro)
7g.117592205A>GCA368979352CFTRc.2038A>G (p.Thr680Ala)
c.*1752A>G (n.*1752A>G)
c.1855A>G (p.Thr619Ala)
c.*338A>G (n.*338A>G)
c.*1862A>G (n.*1862A>G)
c.1612A>G (p.Thr538Ala)
c.1402-10621A>G (n.1402-10621A>G)
c.1948A>G (p.Thr650Ala)
c.2128A>G (p.Thr710Ala)
c.1795A>G (p.Thr599Ala)
7g.117592205A>TCA368979348CFTRc.2038A>T (p.Thr680Ser)
c.*1752A>T (n.*1752A>T)
c.1855A>T (p.Thr619Ser)
c.*338A>T (n.*338A>T)
c.*1862A>T (n.*1862A>T)
c.1612A>T (p.Thr538Ser)
c.1402-10621A>T (n.1402-10621A>T)
c.1948A>T (p.Thr650Ser)
c.2128A>T (p.Thr710Ser)
c.1795A>T (p.Thr599Ser)
7g.117592206C>ACA368979356CFTRc.2039C>A (p.Thr680Lys)
c.*1753C>A (n.*1753C>A)
c.1856C>A (p.Thr619Lys)
c.*339C>A (n.*339C>A)
c.*1863C>A (n.*1863C>A)
c.1613C>A (p.Thr538Lys)
c.1402-10620C>A (n.1402-10620C>A)
c.1949C>A (p.Thr650Lys)
c.2129C>A (p.Thr710Lys)
c.1796C>A (p.Thr599Lys)
 gnomAD v3 gnomAD v4
7g.117592206C>GCA368979357CFTRc.2039C>G (p.Thr680Arg)
c.*1753C>G (n.*1753C>G)
c.1856C>G (p.Thr619Arg)
c.*339C>G (n.*339C>G)
c.*1863C>G (n.*1863C>G)
c.1613C>G (p.Thr538Arg)
c.1402-10620C>G (n.1402-10620C>G)
c.1949C>G (p.Thr650Arg)
c.2129C>G (p.Thr710Arg)
c.1796C>G (p.Thr599Arg)
 gnomAD v4
7g.117592206C>TCA368979360CFTRc.2039C>T (p.Thr680Ile)
c.*1753C>T (n.*1753C>T)
c.1856C>T (p.Thr619Ile)
c.*339C>T (n.*339C>T)
c.*1863C>T (n.*1863C>T)
c.1613C>T (p.Thr538Ile)
c.1402-10620C>T (n.1402-10620C>T)
c.1949C>T (p.Thr650Ile)
c.2129C>T (p.Thr710Ile)
c.1796C>T (p.Thr599Ile)
7g.117592207A>CCA457449014CFTRc.2040A>C (p.Thr680=)
c.*1754A>C (n.*1754A>C)
c.1857A>C (p.Thr619=)
c.*340A>C (n.*340A>C)
c.*1864A>C (n.*1864A>C)
c.1614A>C (p.Thr538=)
c.1402-10619A>C (n.1402-10619A>C)
c.1950A>C (p.Thr650=)
c.2130A>C (p.Thr710=)
c.1797A>C (p.Thr599=)
 gnomAD v4
7g.117592207A>GCA457449015CFTRc.2040A>G (p.Thr680=)
c.*1754A>G (n.*1754A>G)
c.1857A>G (p.Thr619=)
c.*340A>G (n.*340A>G)
c.*1864A>G (n.*1864A>G)
c.1614A>G (p.Thr538=)
c.1402-10619A>G (n.1402-10619A>G)
c.1950A>G (p.Thr650=)
c.2130A>G (p.Thr710=)
c.1797A>G (p.Thr599=)
7g.117592207A>TCA457449016CFTRc.2040A>T (p.Thr680=)
c.*1754A>T (n.*1754A>T)
c.1857A>T (p.Thr619=)
c.*340A>T (n.*340A>T)
c.*1864A>T (n.*1864A>T)
c.1614A>T (p.Thr538=)
c.1402-10619A>T (n.1402-10619A>T)
c.1950A>T (p.Thr650=)
c.2130A>T (p.Thr710=)
c.1797A>T (p.Thr599=)
7g.117592208_117592209delCA913111879CFTRc.2041_2042del (p.Glu681AsnfsTer7)
c.*1755_*1756del (n.*1755_*1756del)
c.1858_1859del (p.Glu620AsnfsTer7)
c.*341_*342del (n.*341_*342del)
c.*1865_*1866del (n.*1865_*1866del)
c.1615_1616del (p.Glu539AsnfsTer7)
c.1402-10618_1402-10617del (n.1402-10618_1402-10617del)
c.1951_1952del (p.Glu651AsnfsTer7)
c.2131_2132del (p.Glu711AsnfsTer7)
c.1798_1799del (p.Glu600AsnfsTer7)
7g.117592208G>ACA368979363CFTRc.2041G>A (p.Glu681Lys)
c.*1755G>A (n.*1755G>A)
c.1858G>A (p.Glu620Lys)
c.*341G>A (n.*341G>A)
c.*1865G>A (n.*1865G>A)
c.1615G>A (p.Glu539Lys)
c.1402-10618G>A (n.1402-10618G>A)
c.1951G>A (p.Glu651Lys)
c.2131G>A (p.Glu711Lys)
c.1798G>A (p.Glu600Lys)
 gnomAD v3 gnomAD v4
7g.117592208G>CCA368979366CFTRc.2041G>C (p.Glu681Gln)
c.*1755G>C (n.*1755G>C)
c.1858G>C (p.Glu620Gln)
c.*341G>C (n.*341G>C)
c.*1865G>C (n.*1865G>C)
c.1615G>C (p.Glu539Gln)
c.1402-10618G>C (n.1402-10618G>C)
c.1951G>C (p.Glu651Gln)
c.2131G>C (p.Glu711Gln)
c.1798G>C (p.Glu600Gln)
 COSMIC
7g.117592208G=CA1737394536CFTRc.2041G= (p.Glu681=)
c.*1755G= (n.*1755G=)
c.1858G= (p.Glu620=)
c.*341G= (n.*341G=)
c.*1865G= (n.*1865G=)
c.1615G= (p.Glu539=)
c.1402-10618G= (n.1402-10618G=)
c.1951G= (p.Glu651=)
c.2131G= (p.Glu711=)
c.1798G= (p.Glu600=)
7g.117592208G>TCA368979368CFTRc.2041G>T (p.Glu681Ter)
c.*1755G>T (n.*1755G>T)
c.1858G>T (p.Glu620Ter)
c.*341G>T (n.*341G>T)
c.*1865G>T (n.*1865G>T)
c.1615G>T (p.Glu539Ter)
c.1402-10618G>T (n.1402-10618G>T)
c.1951G>T (p.Glu651Ter)
c.2131G>T (p.Glu711Ter)
c.1798G>T (p.Glu600Ter)
7g.117592208_117592209delinsGACA1737394535CFTRc.2041_2042delinsGA (p.Glu681=)
c.*1755_*1756delinsGA (n.*1755_*1756delinsGA)
c.1858_1859delinsGA (p.Glu620=)
c.*341_*342delinsGA (n.*341_*342delinsGA)
c.*1865_*1866delinsGA (n.*1865_*1866delinsGA)
c.1615_1616delinsGA (p.Glu539=)
c.1402-10618_1402-10617delinsGA (n.1402-10618_1402-10617delinsGA)
c.1951_1952delinsGA (p.Glu651=)
c.2131_2132delinsGA (p.Glu711=)
c.1798_1799delinsGA (p.Glu600=)
7g.117592209A=CA1737394553CFTRc.2042A= (p.Glu681=)
c.*1756A= (n.*1756A=)
c.1859A= (p.Glu620=)
c.*342A= (n.*342A=)
c.*1866A= (n.*1866A=)
c.1616A= (p.Glu539=)
c.1402-10617A= (n.1402-10617A=)
c.1952A= (p.Glu651=)
c.2132A= (p.Glu711=)
c.1799A= (p.Glu600=)
7g.117592209A>CCA368979373CFTRc.2042A>C (p.Glu681Ala)
c.*1756A>C (n.*1756A>C)
c.1859A>C (p.Glu620Ala)
c.*342A>C (n.*342A>C)
c.*1866A>C (n.*1866A>C)
c.1616A>C (p.Glu539Ala)
c.1402-10617A>C (n.1402-10617A>C)
c.1952A>C (p.Glu651Ala)
c.2132A>C (p.Glu711Ala)
c.1799A>C (p.Glu600Ala)
7g.117592209A>GCA368979370CFTRc.2042A>G (p.Glu681Gly)
c.*1756A>G (n.*1756A>G)
c.1859A>G (p.Glu620Gly)
c.*342A>G (n.*342A>G)
c.*1866A>G (n.*1866A>G)
c.1616A>G (p.Glu539Gly)
c.1402-10617A>G (n.1402-10617A>G)
c.1952A>G (p.Glu651Gly)
c.2132A>G (p.Glu711Gly)
c.1799A>G (p.Glu600Gly)
7g.117592209A>TCA4451133CFTRc.2042A>T (p.Glu681Val)
c.*1756A>T (n.*1756A>T)
c.1859A>T (p.Glu620Val)
c.*342A>T (n.*342A>T)
c.*1866A>T (n.*1866A>T)
c.1616A>T (p.Glu539Val)
c.1402-10617A>T (n.1402-10617A>T)
c.1952A>T (p.Glu651Val)
c.2132A>T (p.Glu711Val)
c.1799A>T (p.Glu600Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117592211dupCA915945425CFTRc.2044dup (p.Thr682AsnfsTer7)
c.*1758dup (n.*1758dup)
c.1861dup (p.Thr621AsnfsTer7)
c.*344dup (n.*344dup)
c.*1868dup (n.*1868dup)
c.1618dup (p.Thr540AsnfsTer7)
c.1402-10615dup (n.1402-10615dup)
c.1954dup (p.Thr652AsnfsTer7)
c.2134dup (p.Thr712AsnfsTer7)
c.1801dup (p.Thr601AsnfsTer7)
 ClinVar dbSNP
7g.117592211delCA658822499CFTRc.2044del (p.Thr682GlnfsTer?)
c.*1758del (n.*1758del)
c.1861del (p.Thr621GlnfsTer?)
c.*344del (n.*344del)
c.*1868del (n.*1868del)
c.1618del (p.Thr540GlnfsTer?)
c.1402-10615del (n.1402-10615del)
c.1954del (p.Thr652GlnfsTer?)
c.2134del (p.Thr712GlnfsTer?)
c.1801del (p.Thr601GlnfsTer?)
 ClinVar dbSNP
7g.117592215_117592222dupCA1106305610CFTRc.2048_2055dup (p.Ser686LysfsTer?)
c.*1762_*1769dup (n.*1762_*1769dup)
c.1865_1872dup (p.Ser625LysfsTer?)
c.*348_*355dup (n.*348_*355dup)
c.*1872_*1879dup (n.*1872_*1879dup)
c.1622_1629dup (p.Ser544LysfsTer?)
c.1402-10611_1402-10604dup (n.1402-10611_1402-10604dup)
c.1958_1965dup (p.Ser656LysfsTer?)
c.2138_2145dup (p.Ser716LysfsTer?)
c.1805_1812dup (p.Ser605LysfsTer?)
 dbSNP gnomAD v3 gnomAD v4
7g.117592210A>CCA368979375CFTRc.2043A>C (p.Glu681Asp)
c.*1757A>C (n.*1757A>C)
c.1860A>C (p.Glu620Asp)
c.*343A>C (n.*343A>C)
c.*1867A>C (n.*1867A>C)
c.1617A>C (p.Glu539Asp)
c.1402-10616A>C (n.1402-10616A>C)
c.1953A>C (p.Glu651Asp)
c.2133A>C (p.Glu711Asp)
c.1800A>C (p.Glu600Asp)
7g.117592210A>GCA457449017CFTRc.2043A>G (p.Glu681=)
c.*1757A>G (n.*1757A>G)
c.1860A>G (p.Glu620=)
c.*343A>G (n.*343A>G)
c.*1867A>G (n.*1867A>G)
c.1617A>G (p.Glu539=)
c.1402-10616A>G (n.1402-10616A>G)
c.1953A>G (p.Glu651=)
c.2133A>G (p.Glu711=)
c.1800A>G (p.Glu600=)
7g.117592210A>TCA368979377CFTRc.2043A>T (p.Glu681Asp)
c.*1757A>T (n.*1757A>T)
c.1860A>T (p.Glu620Asp)
c.*343A>T (n.*343A>T)
c.*1867A>T (n.*1867A>T)
c.1617A>T (p.Glu539Asp)
c.1402-10616A>T (n.1402-10616A>T)
c.1953A>T (p.Glu651Asp)
c.2133A>T (p.Glu711Asp)
c.1800A>T (p.Glu600Asp)
7g.117592211A=CA1737394560CFTRc.2044A= (p.Thr682=)
c.*1758A= (n.*1758A=)
c.1861A= (p.Thr621=)
c.*344A= (n.*344A=)
c.*1868A= (n.*1868A=)
c.1618A= (p.Thr540=)
c.1402-10615A= (n.1402-10615A=)
c.1954A= (p.Thr652=)
c.2134A= (p.Thr712=)
c.1801A= (p.Thr601=)
7g.117592211A>CCA368979380CFTRc.2044A>C (p.Thr682Pro)
c.*1758A>C (n.*1758A>C)
c.1861A>C (p.Thr621Pro)
c.*344A>C (n.*344A>C)
c.*1868A>C (n.*1868A>C)
c.1618A>C (p.Thr540Pro)
c.1402-10615A>C (n.1402-10615A>C)
c.1954A>C (p.Thr652Pro)
c.2134A>C (p.Thr712Pro)
c.1801A>C (p.Thr601Pro)
7g.117592211A>GCA368979383CFTRc.2044A>G (p.Thr682Ala)
c.*1758A>G (n.*1758A>G)
c.1861A>G (p.Thr621Ala)
c.*344A>G (n.*344A>G)
c.*1868A>G (n.*1868A>G)
c.1618A>G (p.Thr540Ala)
c.1402-10615A>G (n.1402-10615A>G)
c.1954A>G (p.Thr652Ala)
c.2134A>G (p.Thr712Ala)
c.1801A>G (p.Thr601Ala)
7g.117592211A>TCA368979386CFTRc.2044A>T (p.Thr682Ser)
c.*1758A>T (n.*1758A>T)
c.1861A>T (p.Thr621Ser)
c.*344A>T (n.*344A>T)
c.*1868A>T (n.*1868A>T)
c.1618A>T (p.Thr540Ser)
c.1402-10615A>T (n.1402-10615A>T)
c.1954A>T (p.Thr652Ser)
c.2134A>T (p.Thr712Ser)
c.1801A>T (p.Thr601Ser)
7g.117592211_117592212delinsACCA1737394561CFTRc.2044_2045delinsAC (p.Thr682=)
c.*1758_*1759delinsAC (n.*1758_*1759delinsAC)
c.1861_1862delinsAC (p.Thr621=)
c.*344_*345delinsAC (n.*344_*345delinsAC)
c.*1868_*1869delinsAC (n.*1868_*1869delinsAC)
c.1618_1619delinsAC (p.Thr540=)
c.1402-10615_1402-10614delinsAC (n.1402-10615_1402-10614delinsAC)
c.1954_1955delinsAC (p.Thr652=)
c.2134_2135delinsAC (p.Thr712=)
c.1801_1802delinsAC (p.Thr601=)
7g.117592212delCA915945426CFTRc.2045del (p.Thr682LysfsTer?)
c.*1759del (n.*1759del)
c.1862del (p.Thr621LysfsTer?)
c.*345del (n.*345del)
c.*1869del (n.*1869del)
c.1619del (p.Thr540LysfsTer?)
c.1402-10614del (n.1402-10614del)
c.1955del (p.Thr652LysfsTer?)
c.2135del (p.Thr712LysfsTer?)
c.1802del (p.Thr601LysfsTer?)
 ClinVar dbSNP
7g.117592212C>ACA368979389CFTRc.2045C>A (p.Thr682Lys)
c.*1759C>A (n.*1759C>A)
c.1862C>A (p.Thr621Lys)
c.*345C>A (n.*345C>A)
c.*1869C>A (n.*1869C>A)
c.1619C>A (p.Thr540Lys)
c.1402-10614C>A (n.1402-10614C>A)
c.1955C>A (p.Thr652Lys)
c.2135C>A (p.Thr712Lys)
c.1802C>A (p.Thr601Lys)
 ClinVar gnomAD v3 gnomAD v4
7g.117592212C>GCA368979394CFTRc.2045C>G (p.Thr682Arg)
c.*1759C>G (n.*1759C>G)
c.1862C>G (p.Thr621Arg)
c.*345C>G (n.*345C>G)
c.*1869C>G (n.*1869C>G)
c.1619C>G (p.Thr540Arg)
c.1402-10614C>G (n.1402-10614C>G)
c.1955C>G (p.Thr652Arg)
c.2135C>G (p.Thr712Arg)
c.1802C>G (p.Thr601Arg)
7g.117592212C>TCA368979392CFTRc.2045C>T (p.Thr682Ile)
c.*1759C>T (n.*1759C>T)
c.1862C>T (p.Thr621Ile)
c.*345C>T (n.*345C>T)
c.*1869C>T (n.*1869C>T)
c.1619C>T (p.Thr540Ile)
c.1402-10614C>T (n.1402-10614C>T)
c.1955C>T (p.Thr652Ile)
c.2135C>T (p.Thr712Ile)
c.1802C>T (p.Thr601Ile)
7g.117592212dupCA326736CFTRc.2045dup (p.Gln685ThrfsTer4)
c.*1759dup (n.*1759dup)
c.1862dup (p.Gln624ThrfsTer4)
c.*345dup (n.*345dup)
c.*1869dup (n.*1869dup)
c.1619dup (p.Gln543ThrfsTer4)
c.1402-10614dup (n.1402-10614dup)
c.1955dup (p.Gln655ThrfsTer4)
c.2135dup (p.Gln715ThrfsTer4)
c.1802dup (p.Gln604ThrfsTer4)
 ClinVar dbSNP
7g.117592212_117592214delinsCAACA1737394575CFTRc.2045_2047delinsCAA (p.Thr682=)
c.*1759_*1761delinsCAA (n.*1759_*1761delinsCAA)
c.1862_1864delinsCAA (p.Thr621=)
c.*345_*347delinsCAA (n.*345_*347delinsCAA)
c.*1869_*1871delinsCAA (n.*1869_*1871delinsCAA)
c.1619_1621delinsCAA (p.Thr540=)
c.1402-10614_1402-10612delinsCAA (n.1402-10614_1402-10612delinsCAA)
c.1955_1957delinsCAA (p.Thr652=)
c.2135_2137delinsCAA (p.Thr712=)
c.1802_1804delinsCAA (p.Thr601=)
7g.117592213A>CCA457449018CFTRc.2046A>C (p.Thr682=)
c.*1760A>C (n.*1760A>C)
c.1863A>C (p.Thr621=)
c.*346A>C (n.*346A>C)
c.*1870A>C (n.*1870A>C)
c.1620A>C (p.Thr540=)
c.1402-10613A>C (n.1402-10613A>C)
c.1956A>C (p.Thr652=)
c.2136A>C (p.Thr712=)
c.1803A>C (p.Thr601=)
7g.117592213A>GCA457449019CFTRc.2046A>G (p.Thr682=)
c.*1760A>G (n.*1760A>G)
c.1863A>G (p.Thr621=)
c.*346A>G (n.*346A>G)
c.*1870A>G (n.*1870A>G)
c.1620A>G (p.Thr540=)
c.1402-10613A>G (n.1402-10613A>G)
c.1956A>G (p.Thr652=)
c.2136A>G (p.Thr712=)
c.1803A>G (p.Thr601=)
 ClinVar dbSNP
7g.117592213A>TCA457449020CFTRc.2046A>T (p.Thr682=)
c.*1760A>T (n.*1760A>T)
c.1863A>T (p.Thr621=)
c.*346A>T (n.*346A>T)
c.*1870A>T (n.*1870A>T)
c.1620A>T (p.Thr540=)
c.1402-10613A>T (n.1402-10613A>T)
c.1956A>T (p.Thr652=)
c.2136A>T (p.Thr712=)
c.1803A>T (p.Thr601=)
7g.117592219dupCA233699CFTRc.2052dup (p.Gln685ThrfsTer4)
c.*1766dup (n.*1766dup)
c.1869dup (p.Gln624ThrfsTer4)
c.*352dup (n.*352dup)
c.*1876dup (n.*1876dup)
c.1626dup (p.Gln543ThrfsTer4)
c.1402-10607dup (n.1402-10607dup)
c.1962dup (p.Gln655ThrfsTer4)
c.2142dup (p.Gln715ThrfsTer4)
c.1809dup (p.Gln604ThrfsTer4)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117592218_117592219dupCA913190194CFTRc.2051_2052dup (p.Gln685AsnfsTer?)
c.*1765_*1766dup (n.*1765_*1766dup)
c.1868_1869dup (p.Gln624AsnfsTer?)
c.*351_*352dup (n.*351_*352dup)
c.*1875_*1876dup (n.*1875_*1876dup)
c.1625_1626dup (p.Gln543AsnfsTer?)
c.1402-10608_1402-10607dup (n.1402-10608_1402-10607dup)
c.1961_1962dup (p.Gln655AsnfsTer?)
c.2141_2142dup (p.Gln715AsnfsTer?)
c.1808_1809dup (p.Gln604AsnfsTer?)
 ClinVar dbSNP
7g.117592219delCA344706CFTRc.2052del (p.Lys684AsnfsTer?)
c.*1766del (n.*1766del)
c.1869del (p.Lys623AsnfsTer?)
c.*352del (n.*352del)
c.*1876del (n.*1876del)
c.1626del (p.Lys542AsnfsTer?)
c.1402-10607del (n.1402-10607del)
c.1962del (p.Lys654AsnfsTer?)
c.2142del (p.Lys714AsnfsTer?)
c.1809del (p.Lys603AsnfsTer?)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117592218_117592219delCA326739CFTRc.2051_2052del (p.Lys684ThrfsTer4)
c.*1765_*1766del (n.*1765_*1766del)
c.1868_1869del (p.Lys623ThrfsTer4)
c.*351_*352del (n.*351_*352del)
c.*1875_*1876del (n.*1875_*1876del)
c.1625_1626del (p.Lys542ThrfsTer4)
c.1402-10608_1402-10607del (n.1402-10608_1402-10607del)
c.1961_1962del (p.Lys654ThrfsTer4)
c.2141_2142del (p.Lys714ThrfsTer4)
c.1808_1809del (p.Lys603ThrfsTer4)
 ClinVar dbSNP
7g.117592216_117592219delCA2573052803CFTRc.2049_2052del (p.Lys683AsnfsTer?)
c.*1763_*1766del (n.*1763_*1766del)
c.1866_1869del (p.Lys622AsnfsTer?)
c.*349_*352del (n.*349_*352del)
c.*1873_*1876del (n.*1873_*1876del)
c.1623_1626del (p.Lys541AsnfsTer?)
c.1402-10610_1402-10607del (n.1402-10610_1402-10607del)
c.1959_1962del (p.Lys653AsnfsTer?)
c.2139_2142del (p.Lys713AsnfsTer?)
c.1806_1809del (p.Lys602AsnfsTer?)
 ClinVar dbSNP
7g.117592214A>CCA368979407CFTRc.2047A>C (p.Lys683Gln)
c.*1761A>C (n.*1761A>C)
c.1864A>C (p.Lys622Gln)
c.*347A>C (n.*347A>C)
c.*1871A>C (n.*1871A>C)
c.1621A>C (p.Lys541Gln)
c.1402-10612A>C (n.1402-10612A>C)
c.1957A>C (p.Lys653Gln)
c.2137A>C (p.Lys713Gln)
c.1804A>C (p.Lys602Gln)
7g.117592214A>GCA368979409CFTRc.2047A>G (p.Lys683Glu)
c.*1761A>G (n.*1761A>G)
c.1864A>G (p.Lys622Glu)
c.*347A>G (n.*347A>G)
c.*1871A>G (n.*1871A>G)
c.1621A>G (p.Lys541Glu)
c.1402-10612A>G (n.1402-10612A>G)
c.1957A>G (p.Lys653Glu)
c.2137A>G (p.Lys713Glu)
c.1804A>G (p.Lys602Glu)
7g.117592214A>TCA368979411CFTRc.2047A>T (p.Lys683Ter)
c.*1761A>T (n.*1761A>T)
c.1864A>T (p.Lys622Ter)
c.*347A>T (n.*347A>T)
c.*1871A>T (n.*1871A>T)
c.1621A>T (p.Lys541Ter)
c.1402-10612A>T (n.1402-10612A>T)
c.1957A>T (p.Lys653Ter)
c.2137A>T (p.Lys713Ter)
c.1804A>T (p.Lys602Ter)
7g.117592215A=CA1737394598CFTRc.2048A= (p.Lys683=)
c.*1762A= (n.*1762A=)
c.1865A= (p.Lys622=)
c.*348A= (n.*348A=)
c.*1872A= (n.*1872A=)
c.1622A= (p.Lys541=)
c.1402-10611A= (n.1402-10611A=)
c.1958A= (p.Lys653=)
c.2138A= (p.Lys713=)
c.1805A= (p.Lys602=)
7g.117592215A>CCA368979414CFTRc.2048A>C (p.Lys683Thr)
c.*1762A>C (n.*1762A>C)
c.1865A>C (p.Lys622Thr)
c.*348A>C (n.*348A>C)
c.*1872A>C (n.*1872A>C)
c.1622A>C (p.Lys541Thr)
c.1402-10611A>C (n.1402-10611A>C)
c.1958A>C (p.Lys653Thr)
c.2138A>C (p.Lys713Thr)
c.1805A>C (p.Lys602Thr)
7g.117592215A>GCA164947738CFTRc.2048A>G (p.Lys683Arg)
c.*1762A>G (n.*1762A>G)
c.1865A>G (p.Lys622Arg)
c.*348A>G (n.*348A>G)
c.*1872A>G (n.*1872A>G)
c.1622A>G (p.Lys541Arg)
c.1402-10611A>G (n.1402-10611A>G)
c.1958A>G (p.Lys653Arg)
c.2138A>G (p.Lys713Arg)
c.1805A>G (p.Lys602Arg)
 dbSNP gnomAD v3
7g.117592215A>TCA368979417CFTRc.2048A>T (p.Lys683Ile)
c.*1762A>T (n.*1762A>T)
c.1865A>T (p.Lys622Ile)
c.*348A>T (n.*348A>T)
c.*1872A>T (n.*1872A>T)
c.1622A>T (p.Lys541Ile)
c.1402-10611A>T (n.1402-10611A>T)
c.1958A>T (p.Lys653Ile)
c.2138A>T (p.Lys713Ile)
c.1805A>T (p.Lys602Ile)
7g.117592216A>CCA368979421CFTRc.2049A>C (p.Lys683Asn)
c.*1763A>C (n.*1763A>C)
c.1866A>C (p.Lys622Asn)
c.*349A>C (n.*349A>C)
c.*1873A>C (n.*1873A>C)
c.1623A>C (p.Lys541Asn)
c.1402-10610A>C (n.1402-10610A>C)
c.1959A>C (p.Lys653Asn)
c.2139A>C (p.Lys713Asn)
c.1806A>C (p.Lys602Asn)
7g.117592216A>GCA457449021CFTRc.2049A>G (p.Lys683=)
c.*1763A>G (n.*1763A>G)
c.1866A>G (p.Lys622=)
c.*349A>G (n.*349A>G)
c.*1873A>G (n.*1873A>G)
c.1623A>G (p.Lys541=)
c.1402-10610A>G (n.1402-10610A>G)
c.1959A>G (p.Lys653=)
c.2139A>G (p.Lys713=)
c.1806A>G (p.Lys602=)
7g.117592216A>TCA368979423CFTRc.2049A>T (p.Lys683Asn)
c.*1763A>T (n.*1763A>T)
c.1866A>T (p.Lys622Asn)
c.*349A>T (n.*349A>T)
c.*1873A>T (n.*1873A>T)
c.1623A>T (p.Lys541Asn)
c.1402-10610A>T (n.1402-10610A>T)
c.1959A>T (p.Lys653Asn)
c.2139A>T (p.Lys713Asn)
c.1806A>T (p.Lys602Asn)
7g.117592216_117592220delinsAAAACCA1737394602CFTRc.2049_2053delinsAAAAC (p.Lys683=)
c.*1763_*1767delinsAAAAC (n.*1763_*1767delinsAAAAC)
c.1866_1870delinsAAAAC (p.Lys622=)
c.*349_*353delinsAAAAC (n.*349_*353delinsAAAAC)
c.*1873_*1877delinsAAAAC (n.*1873_*1877delinsAAAAC)
c.1623_1627delinsAAAAC (p.Lys541=)
c.1402-10610_1402-10606delinsAAAAC (n.1402-10610_1402-10606delinsAAAAC)
c.1959_1963delinsAAAAC (p.Lys653=)
c.2139_2143delinsAAAAC (p.Lys713=)
c.1806_1810delinsAAAAC (p.Lys602=)
7g.117592217A>CCA368979433CFTRc.2050A>C (p.Lys684Gln)
c.*1764A>C (n.*1764A>C)
c.1867A>C (p.Lys623Gln)
c.*350A>C (n.*350A>C)
c.*1874A>C (n.*1874A>C)
c.1624A>C (p.Lys542Gln)
c.1402-10609A>C (n.1402-10609A>C)
c.1960A>C (p.Lys654Gln)
c.2140A>C (p.Lys714Gln)
c.1807A>C (p.Lys603Gln)
7g.117592217A>GCA368979432CFTRc.2050A>G (p.Lys684Glu)
c.*1764A>G (n.*1764A>G)
c.1867A>G (p.Lys623Glu)
c.*350A>G (n.*350A>G)
c.*1874A>G (n.*1874A>G)
c.1624A>G (p.Lys542Glu)
c.1402-10609A>G (n.1402-10609A>G)
c.1960A>G (p.Lys654Glu)
c.2140A>G (p.Lys714Glu)
c.1807A>G (p.Lys603Glu)
7g.117592217A>TCA368979427CFTRc.2050A>T (p.Lys684Ter)
c.*1764A>T (n.*1764A>T)
c.1867A>T (p.Lys623Ter)
c.*350A>T (n.*350A>T)
c.*1874A>T (n.*1874A>T)
c.1624A>T (p.Lys542Ter)
c.1402-10609A>T (n.1402-10609A>T)
c.1960A>T (p.Lys654Ter)
c.2140A>T (p.Lys714Ter)
c.1807A>T (p.Lys603Ter)
7g.117592217_117592219delinsAAACA1737394609CFTRc.2050_2052delinsAAA (p.Lys684=)
c.*1764_*1766delinsAAA (n.*1764_*1766delinsAAA)
c.1867_1869delinsAAA (p.Lys623=)
c.*350_*352delinsAAA (n.*350_*352delinsAAA)
c.*1874_*1876delinsAAA (n.*1874_*1876delinsAAA)
c.1624_1626delinsAAA (p.Lys542=)
c.1402-10609_1402-10607delinsAAA (n.1402-10609_1402-10607delinsAAA)
c.1960_1962delinsAAA (p.Lys654=)
c.2140_2142delinsAAA (p.Lys714=)
c.1807_1809delinsAAA (p.Lys603=)
7g.117592217_117592220delinsAAACCA1737394607CFTRc.2050_2053delinsAAAC (p.Lys684=)
c.*1764_*1767delinsAAAC (n.*1764_*1767delinsAAAC)
c.1867_1870delinsAAAC (p.Lys623=)
c.*350_*353delinsAAAC (n.*350_*353delinsAAAC)
c.*1874_*1877delinsAAAC (n.*1874_*1877delinsAAAC)
c.1624_1627delinsAAAC (p.Lys542=)
c.1402-10609_1402-10606delinsAAAC (n.1402-10609_1402-10606delinsAAAC)
c.1960_1963delinsAAAC (p.Lys654=)
c.2140_2143delinsAAAC (p.Lys714=)
c.1807_1810delinsAAAC (p.Lys603=)
7g.117592219_117592222delCA368979429CFTRc.2052_2055del (p.Lys684AsnfsTer?)
c.*1766_*1769del (n.*1766_*1769del)
c.1869_1872del (p.Lys623AsnfsTer?)
c.*352_*355del (n.*352_*355del)
c.*1876_*1879del (n.*1876_*1879del)
c.1626_1629del (p.Lys542AsnfsTer?)
c.1402-10607_1402-10604del (n.1402-10607_1402-10604del)
c.1962_1965del (p.Lys654AsnfsTer?)
c.2142_2145del (p.Lys714AsnfsTer?)
c.1809_1812del (p.Lys603AsnfsTer?)
 dbSNP
7g.117592218A=CA1737394622CFTRc.2051A= (p.Lys684=)
c.*1765A= (n.*1765A=)
c.1868A= (p.Lys623=)
c.*351A= (n.*351A=)
c.*1875A= (n.*1875A=)
c.1625A= (p.Lys542=)
c.1402-10608A= (n.1402-10608A=)
c.1961A= (p.Lys654=)
c.2141A= (p.Lys714=)
c.1808A= (p.Lys603=)
7g.117592218A>CCA368979438CFTRc.2051A>C (p.Lys684Thr)
c.*1765A>C (n.*1765A>C)
c.1868A>C (p.Lys623Thr)
c.*351A>C (n.*351A>C)
c.*1875A>C (n.*1875A>C)
c.1625A>C (p.Lys542Thr)
c.1402-10608A>C (n.1402-10608A>C)
c.1961A>C (p.Lys654Thr)
c.2141A>C (p.Lys714Thr)
c.1808A>C (p.Lys603Thr)
 dbSNP gnomAD v2 gnomAD v4
7g.117592218A>GCA164947746CFTRc.2051A>G (p.Lys684Arg)
c.*1765A>G (n.*1765A>G)
c.1868A>G (p.Lys623Arg)
c.*351A>G (n.*351A>G)
c.*1875A>G (n.*1875A>G)
c.1625A>G (p.Lys542Arg)
c.1402-10608A>G (n.1402-10608A>G)
c.1961A>G (p.Lys654Arg)
c.2141A>G (p.Lys714Arg)
c.1808A>G (p.Lys603Arg)
 dbSNP
7g.117592218A>TCA368979436CFTRc.2051A>T (p.Lys684Ile)
c.*1765A>T (n.*1765A>T)
c.1868A>T (p.Lys623Ile)
c.*351A>T (n.*351A>T)
c.*1875A>T (n.*1875A>T)
c.1625A>T (p.Lys542Ile)
c.1402-10608A>T (n.1402-10608A>T)
c.1961A>T (p.Lys654Ile)
c.2141A>T (p.Lys714Ile)
c.1808A>T (p.Lys603Ile)
7g.117592218_117592219delinsGCA325699CFTRc.2051_2052delinsG (p.Lys684SerfsTer?)
c.*1765_*1766delinsG (n.*1765_*1766delinsG)
c.1868_1869delinsG (p.Lys623SerfsTer?)
c.*351_*352delinsG (n.*351_*352delinsG)
c.*1875_*1876delinsG (n.*1875_*1876delinsG)
c.1625_1626delinsG (p.Lys542SerfsTer?)
c.1402-10608_1402-10607delinsG (n.1402-10608_1402-10607delinsG)
c.1961_1962delinsG (p.Lys654SerfsTer?)
c.2141_2142delinsG (p.Lys714SerfsTer?)
c.1808_1809delinsG (p.Lys603SerfsTer?)
 ClinVar dbSNP
7g.117592220_117592222delCA577680764CFTRc.2053_2055del (p.Gln685del)
c.*1767_*1769del (n.*1767_*1769del)
c.1870_1872del (p.Gln624del)
c.*353_*355del (n.*353_*355del)
c.*1877_*1879del (n.*1877_*1879del)
c.1627_1629del (p.Gln543del)
c.1402-10606_1402-10604del (n.1402-10606_1402-10604del)
c.1963_1965del (p.Gln655del)
c.2143_2145del (p.Gln715del)
c.1810_1812del (p.Gln604del)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.117592218_117592219insGCA923726134CFTRc.2051_2052insG (p.Gln685ThrfsTer4)
c.*1765_*1766insG (n.*1765_*1766insG)
c.1868_1869insG (p.Gln624ThrfsTer4)
c.*351_*352insG (n.*351_*352insG)
c.*1875_*1876insG (n.*1875_*1876insG)
c.1625_1626insG (p.Gln543ThrfsTer4)
c.1402-10608_1402-10607insG (n.1402-10608_1402-10607insG)
c.1961_1962insG (p.Gln655ThrfsTer4)
c.2141_2142insG (p.Gln715ThrfsTer4)
c.1808_1809insG (p.Gln604ThrfsTer4)
7g.117592219A=CA1737394631CFTRc.2052A= (p.Lys684=)
c.*1766A= (n.*1766A=)
c.1869A= (p.Lys623=)
c.*352A= (n.*352A=)
c.*1876A= (n.*1876A=)
c.1626A= (p.Lys542=)
c.1402-10607A= (n.1402-10607A=)
c.1962A= (p.Lys654=)
c.2142A= (p.Lys714=)
c.1809A= (p.Lys603=)
7g.117592219A>CCA368979443CFTRc.2052A>C (p.Lys684Asn)
c.*1766A>C (n.*1766A>C)
c.1869A>C (p.Lys623Asn)
c.*352A>C (n.*352A>C)
c.*1876A>C (n.*1876A>C)
c.1626A>C (p.Lys542Asn)
c.1402-10607A>C (n.1402-10607A>C)
c.1962A>C (p.Lys654Asn)
c.2142A>C (p.Lys714Asn)
c.1809A>C (p.Lys603Asn)
 ClinVar dbSNP
7g.117592219A>GCA4451134CFTRc.2052A>G (p.Lys684=)
c.*1766A>G (n.*1766A>G)
c.1869A>G (p.Lys623=)
c.*352A>G (n.*352A>G)
c.*1876A>G (n.*1876A>G)
c.1626A>G (p.Lys542=)
c.1402-10607A>G (n.1402-10607A>G)
c.1962A>G (p.Lys654=)
c.2142A>G (p.Lys714=)
c.1809A>G (p.Lys603=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117592219A>TCA368979447CFTRc.2052A>T (p.Lys684Asn)
c.*1766A>T (n.*1766A>T)
c.1869A>T (p.Lys623Asn)
c.*352A>T (n.*352A>T)
c.*1876A>T (n.*1876A>T)
c.1626A>T (p.Lys542Asn)
c.1402-10607A>T (n.1402-10607A>T)
c.1962A>T (p.Lys654Asn)
c.2142A>T (p.Lys714Asn)
c.1809A>T (p.Lys603Asn)
 ClinVar dbSNP gnomAD v4
7g.117592220C>ACA368979449CFTRc.2053C>A (p.Gln685Lys)
c.*1767C>A (n.*1767C>A)
c.1870C>A (p.Gln624Lys)
c.*353C>A (n.*353C>A)
c.*1877C>A (n.*1877C>A)
c.1627C>A (p.Gln543Lys)
c.1402-10606C>A (n.1402-10606C>A)
c.1963C>A (p.Gln655Lys)
c.2143C>A (p.Gln715Lys)
c.1810C>A (p.Gln604Lys)
 COSMIC
7g.117592220C=CA1737394648CFTRc.2053C= (p.Gln685=)
c.*1767C= (n.*1767C=)
c.1870C= (p.Gln624=)
c.*353C= (n.*353C=)
c.*1877C= (n.*1877C=)
c.1627C= (p.Gln543=)
c.1402-10606C= (n.1402-10606C=)
c.1963C= (p.Gln655=)
c.2143C= (p.Gln715=)
c.1810C= (p.Gln604=)
7g.117592220C>GCA368979451CFTRc.2053C>G (p.Gln685Glu)
c.*1767C>G (n.*1767C>G)
c.1870C>G (p.Gln624Glu)
c.*353C>G (n.*353C>G)
c.*1877C>G (n.*1877C>G)
c.1627C>G (p.Gln543Glu)
c.1402-10606C>G (n.1402-10606C>G)
c.1963C>G (p.Gln655Glu)
c.2143C>G (p.Gln715Glu)
c.1810C>G (p.Gln604Glu)
7g.117592220C>TCA326740CFTRc.2053C>T (p.Gln685Ter)
c.*1767C>T (n.*1767C>T)
c.1870C>T (p.Gln624Ter)
c.*353C>T (n.*353C>T)
c.*1877C>T (n.*1877C>T)
c.1627C>T (p.Gln543Ter)
c.1402-10606C>T (n.1402-10606C>T)
c.1963C>T (p.Gln655Ter)
c.2143C>T (p.Gln715Ter)
c.1810C>T (p.Gln604Ter)
 ClinVar dbSNP
7g.117592220dupCA276116CFTRc.2053dup (p.Gln685ProfsTer4)
c.*1767dup (n.*1767dup)
c.1870dup (p.Gln624ProfsTer4)
c.*353dup (n.*353dup)
c.*1877dup (n.*1877dup)
c.1627dup (p.Gln543ProfsTer4)
c.1402-10606dup (n.1402-10606dup)
c.1963dup (p.Gln655ProfsTer4)
c.2143dup (p.Gln715ProfsTer4)
c.1810dup (p.Gln604ProfsTer4)
 ClinVar dbSNP
7g.117592221A>CCA368979455CFTRc.2054A>C (p.Gln685Pro)
c.*1768A>C (n.*1768A>C)
c.1871A>C (p.Gln624Pro)
c.*354A>C (n.*354A>C)
c.*1878A>C (n.*1878A>C)
c.1628A>C (p.Gln543Pro)
c.1402-10605A>C (n.1402-10605A>C)
c.1964A>C (p.Gln655Pro)
c.2144A>C (p.Gln715Pro)
c.1811A>C (p.Gln604Pro)
 ClinVar
7g.117592221A>GCA368979456CFTRc.2054A>G (p.Gln685Arg)
c.*1768A>G (n.*1768A>G)
c.1871A>G (p.Gln624Arg)
c.*354A>G (n.*354A>G)
c.*1878A>G (n.*1878A>G)
c.1628A>G (p.Gln543Arg)
c.1402-10605A>G (n.1402-10605A>G)
c.1964A>G (p.Gln655Arg)
c.2144A>G (p.Gln715Arg)
c.1811A>G (p.Gln604Arg)
7g.117592221A>TCA368979458CFTRc.2054A>T (p.Gln685Leu)
c.*1768A>T (n.*1768A>T)
c.1871A>T (p.Gln624Leu)
c.*354A>T (n.*354A>T)
c.*1878A>T (n.*1878A>T)
c.1628A>T (p.Gln543Leu)
c.1402-10605A>T (n.1402-10605A>T)
c.1964A>T (p.Gln655Leu)
c.2144A>T (p.Gln715Leu)
c.1811A>T (p.Gln604Leu)
7g.117592222A=CA1737394657CFTRc.2055A= (p.Gln685=)
c.*1769A= (n.*1769A=)
c.1872A= (p.Gln624=)
c.*355A= (n.*355A=)
c.*1879A= (n.*1879A=)
c.1629A= (p.Gln543=)
c.1402-10604A= (n.1402-10604A=)
c.1965A= (p.Gln655=)
c.2145A= (p.Gln715=)
c.1812A= (p.Gln604=)
7g.117592222A>CCA368979462CFTRc.2055A>C (p.Gln685His)
c.*1769A>C (n.*1769A>C)
c.1872A>C (p.Gln624His)
c.*355A>C (n.*355A>C)
c.*1879A>C (n.*1879A>C)
c.1629A>C (p.Gln543His)
c.1402-10604A>C (n.1402-10604A>C)
c.1965A>C (p.Gln655His)
c.2145A>C (p.Gln715His)
c.1812A>C (p.Gln604His)
7g.117592222A>GCA457449022CFTRc.2055A>G (p.Gln685=)
c.*1769A>G (n.*1769A>G)
c.1872A>G (p.Gln624=)
c.*355A>G (n.*355A>G)
c.*1879A>G (n.*1879A>G)
c.1629A>G (p.Gln543=)
c.1402-10604A>G (n.1402-10604A>G)
c.1965A>G (p.Gln655=)
c.2145A>G (p.Gln715=)
c.1812A>G (p.Gln604=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.117592222A>TCA368979464CFTRc.2055A>T (p.Gln685His)
c.*1769A>T (n.*1769A>T)
c.1872A>T (p.Gln624His)
c.*355A>T (n.*355A>T)
c.*1879A>T (n.*1879A>T)
c.1629A>T (p.Gln543His)
c.1402-10604A>T (n.1402-10604A>T)
c.1965A>T (p.Gln655His)
c.2145A>T (p.Gln715His)
c.1812A>T (p.Gln604His)
7g.117592223T>ACA368979467CFTRc.2056T>A (p.Ser686Thr)
c.*1770T>A (n.*1770T>A)
c.1873T>A (p.Ser625Thr)
c.*356T>A (n.*356T>A)
c.*1880T>A (n.*1880T>A)
c.1630T>A (p.Ser544Thr)
c.1402-10603T>A (n.1402-10603T>A)
c.1966T>A (p.Ser656Thr)
c.2146T>A (p.Ser716Thr)
c.1813T>A (p.Ser605Thr)
 dbSNP gnomAD v2 gnomAD v4
7g.117592223T>CCA368979469CFTRc.2056T>C (p.Ser686Pro)
c.*1770T>C (n.*1770T>C)
c.1873T>C (p.Ser625Pro)
c.*356T>C (n.*356T>C)
c.*1880T>C (n.*1880T>C)
c.1630T>C (p.Ser544Pro)
c.1402-10603T>C (n.1402-10603T>C)
c.1966T>C (p.Ser656Pro)
c.2146T>C (p.Ser716Pro)
c.1813T>C (p.Ser605Pro)
7g.117592223T>GCA368979471CFTRc.2056T>G (p.Ser686Ala)
c.*1770T>G (n.*1770T>G)
c.1873T>G (p.Ser625Ala)
c.*356T>G (n.*356T>G)
c.*1880T>G (n.*1880T>G)
c.1630T>G (p.Ser544Ala)
c.1402-10603T>G (n.1402-10603T>G)
c.1966T>G (p.Ser656Ala)
c.2146T>G (p.Ser716Ala)
c.1813T>G (p.Ser605Ala)
7g.117592223T=CA1737394663CFTRc.2056T= (p.Ser686=)
c.*1770T= (n.*1770T=)
c.1873T= (p.Ser625=)
c.*356T= (n.*356T=)
c.*1880T= (n.*1880T=)
c.1630T= (p.Ser544=)
c.1402-10603T= (n.1402-10603T=)
c.1966T= (p.Ser656=)
c.2146T= (p.Ser716=)
c.1813T= (p.Ser605=)
7g.117592224delCA2684619357CFTRc.2057del (p.Ser686PhefsTer?)
c.*1771del (n.*1771del)
c.1874del (p.Ser625PhefsTer?)
c.*357del (n.*357del)
c.*1881del (n.*1881del)
c.1631del (p.Ser544PhefsTer?)
c.1402-10602del (n.1402-10602del)
c.1967del (p.Ser656PhefsTer?)
c.2147del (p.Ser716PhefsTer?)
c.1814del (p.Ser605PhefsTer?)
 gnomAD v4
7g.117592224C>ACA4451135CFTRc.2057C>A (p.Ser686Tyr)
c.*1771C>A (n.*1771C>A)
c.1874C>A (p.Ser625Tyr)
c.*357C>A (n.*357C>A)
c.*1881C>A (n.*1881C>A)
c.1631C>A (p.Ser544Tyr)
c.1402-10602C>A (n.1402-10602C>A)
c.1967C>A (p.Ser656Tyr)
c.2147C>A (p.Ser716Tyr)
c.1814C>A (p.Ser605Tyr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117592224C=CA1737394669CFTRc.2057C= (p.Ser686=)
c.*1771C= (n.*1771C=)
c.1874C= (p.Ser625=)
c.*357C= (n.*357C=)
c.*1881C= (n.*1881C=)
c.1631C= (p.Ser544=)
c.1402-10602C= (n.1402-10602C=)
c.1967C= (p.Ser656=)
c.2147C= (p.Ser716=)
c.1814C= (p.Ser605=)
7g.117592224C>GCA368979475CFTRc.2057C>G (p.Ser686Cys)
c.*1771C>G (n.*1771C>G)
c.1874C>G (p.Ser625Cys)
c.*357C>G (n.*357C>G)
c.*1881C>G (n.*1881C>G)
c.1631C>G (p.Ser544Cys)
c.1402-10602C>G (n.1402-10602C>G)
c.1967C>G (p.Ser656Cys)
c.2147C>G (p.Ser716Cys)
c.1814C>G (p.Ser605Cys)
7g.117592224C>TCA368979476CFTRc.2057C>T (p.Ser686Phe)
c.*1771C>T (n.*1771C>T)
c.1874C>T (p.Ser625Phe)
c.*357C>T (n.*357C>T)
c.*1881C>T (n.*1881C>T)
c.1631C>T (p.Ser544Phe)
c.1402-10602C>T (n.1402-10602C>T)
c.1967C>T (p.Ser656Phe)
c.2147C>T (p.Ser716Phe)
c.1814C>T (p.Ser605Phe)
7g.117592224_117592225delinsACA2695208507CFTRc.2057_2058delinsA (p.Ser686TyrfsTer?)
c.*1771_*1772delinsA (n.*1771_*1772delinsA)
c.1874_1875delinsA (p.Ser625TyrfsTer?)
c.*357_*358delinsA (n.*357_*358delinsA)
c.*1881_*1882delinsA (n.*1881_*1882delinsA)
c.1631_1632delinsA (p.Ser544TyrfsTer?)
c.1402-10602_1402-10601delinsA (n.1402-10602_1402-10601delinsA)
c.1967_1968delinsA (p.Ser656TyrfsTer?)
c.2147_2148delinsA (p.Ser716TyrfsTer?)
c.1814_1815delinsA (p.Ser605TyrfsTer?)
7g.117592224_117592225delinsCTCA1737394673CFTRc.2057_2058delinsCT (p.Ser686=)
c.*1771_*1772delinsCT (n.*1771_*1772delinsCT)
c.1874_1875delinsCT (p.Ser625=)
c.*357_*358delinsCT (n.*357_*358delinsCT)
c.*1881_*1882delinsCT (n.*1881_*1882delinsCT)
c.1631_1632delinsCT (p.Ser544=)
c.1402-10602_1402-10601delinsCT (n.1402-10602_1402-10601delinsCT)
c.1967_1968delinsCT (p.Ser656=)
c.2147_2148delinsCT (p.Ser716=)
c.1814_1815delinsCT (p.Ser605=)
7g.117592224_117592225insACA2695208509CFTRc.2057_2058insA (p.Lys688Ter)
c.*1771_*1772insA (n.*1771_*1772insA)
c.1874_1875insA (p.Lys627Ter)
c.*357_*358insA (n.*357_*358insA)
c.*1881_*1882insA (n.*1881_*1882insA)
c.1631_1632insA (p.Lys546Ter)
c.1402-10602_1402-10601insA (n.1402-10602_1402-10601insA)
c.1967_1968insA (p.Lys658Ter)
c.2147_2148insA (p.Lys718Ter)
c.1814_1815insA (p.Lys607Ter)
7g.117592225T>ACA457449023CFTRc.2058T>A (p.Ser686=)
c.*1772T>A (n.*1772T>A)
c.1875T>A (p.Ser625=)
c.*358T>A (n.*358T>A)
c.*1882T>A (n.*1882T>A)
c.1632T>A (p.Ser544=)
c.1402-10601T>A (n.1402-10601T>A)
c.1968T>A (p.Ser656=)
c.2148T>A (p.Ser716=)
c.1815T>A (p.Ser605=)
 gnomAD v4
7g.117592225T>CCA457449024CFTRc.2058T>C (p.Ser686=)
c.*1772T>C (n.*1772T>C)
c.1875T>C (p.Ser625=)
c.*358T>C (n.*358T>C)
c.*1882T>C (n.*1882T>C)
c.1632T>C (p.Ser544=)
c.1402-10601T>C (n.1402-10601T>C)
c.1968T>C (p.Ser656=)
c.2148T>C (p.Ser716=)
c.1815T>C (p.Ser605=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
7g.117592225T>GCA457449025CFTRc.2058T>G (p.Ser686=)
c.*1772T>G (n.*1772T>G)
c.1875T>G (p.Ser625=)
c.*358T>G (n.*358T>G)
c.*1882T>G (n.*1882T>G)
c.1632T>G (p.Ser544=)
c.1402-10601T>G (n.1402-10601T>G)
c.1968T>G (p.Ser656=)
c.2148T>G (p.Ser716=)
c.1815T>G (p.Ser605=)
 ClinVar dbSNP
7g.117592225T=CA1737394677CFTRc.2058T= (p.Ser686=)
c.*1772T= (n.*1772T=)
c.1875T= (p.Ser625=)
c.*358T= (n.*358T=)
c.*1882T= (n.*1882T=)
c.1632T= (p.Ser544=)
c.1402-10601T= (n.1402-10601T=)
c.1968T= (p.Ser656=)
c.2148T= (p.Ser716=)
c.1815T= (p.Ser605=)
7g.117592225_117592228delCA2695208510CFTRc.2058_2061del (p.Phe687AsnfsTer?)
c.*1772_*1775del (n.*1772_*1775del)
c.1875_1878del (p.Phe626AsnfsTer?)
c.*358_*361del (n.*358_*361del)
c.*1882_*1885del (n.*1882_*1885del)
c.1632_1635del (p.Phe545AsnfsTer?)
c.1402-10601_1402-10598del (n.1402-10601_1402-10598del)
c.1968_1971del (p.Phe657AsnfsTer?)
c.2148_2151del (p.Phe717AsnfsTer?)
c.1815_1818del (p.Phe606AsnfsTer?)
7g.117592225_117592228dupCA2695208508CFTRc.2058_2061dup (p.Lys688PhefsTer2)
c.*1772_*1775dup (n.*1772_*1775dup)
c.1875_1878dup (p.Lys627PhefsTer2)
c.*358_*361dup (n.*358_*361dup)
c.*1882_*1885dup (n.*1882_*1885dup)
c.1632_1635dup (p.Lys546PhefsTer2)
c.1402-10601_1402-10598dup (n.1402-10601_1402-10598dup)
c.1968_1971dup (p.Lys658PhefsTer2)
c.2148_2151dup (p.Lys718PhefsTer2)
c.1815_1818dup (p.Lys607PhefsTer2)
 ClinVar
7g.117592228delCA577680765CFTRc.2061del (p.Phe687LeufsTer?)
c.*1775del (n.*1775del)
c.1878del (p.Phe626LeufsTer?)
c.*361del (n.*361del)
c.*1885del (n.*1885del)
c.1635del (p.Phe545LeufsTer?)
c.1402-10598del (n.1402-10598del)
c.1971del (p.Phe657LeufsTer?)
c.2151del (p.Phe717LeufsTer?)
c.1818del (p.Phe606LeufsTer?)
 dbSNP gnomAD v2 gnomAD v4
7g.117592226T>ACA368979480CFTRc.2059T>A (p.Phe687Ile)
c.*1773T>A (n.*1773T>A)
c.1876T>A (p.Phe626Ile)
c.*359T>A (n.*359T>A)
c.*1883T>A (n.*1883T>A)
c.1633T>A (p.Phe545Ile)
c.1402-10600T>A (n.1402-10600T>A)
c.1969T>A (p.Phe657Ile)
c.2149T>A (p.Phe717Ile)
c.1816T>A (p.Phe606Ile)
7g.117592226T>CCA164947754CFTRc.2059T>C (p.Phe687Leu)
c.*1773T>C (n.*1773T>C)
c.1876T>C (p.Phe626Leu)
c.*359T>C (n.*359T>C)
c.*1883T>C (n.*1883T>C)
c.1633T>C (p.Phe545Leu)
c.1402-10600T>C (n.1402-10600T>C)
c.1969T>C (p.Phe657Leu)
c.2149T>C (p.Phe717Leu)
c.1816T>C (p.Phe606Leu)
 dbSNP
7g.117592226T>GCA368979483CFTRc.2059T>G (p.Phe687Val)
c.*1773T>G (n.*1773T>G)
c.1876T>G (p.Phe626Val)
c.*359T>G (n.*359T>G)
c.*1883T>G (n.*1883T>G)
c.1633T>G (p.Phe545Val)
c.1402-10600T>G (n.1402-10600T>G)
c.1969T>G (p.Phe657Val)
c.2149T>G (p.Phe717Val)
c.1816T>G (p.Phe606Val)
7g.117592226T=CA1737394681CFTRc.2059T= (p.Phe687=)
c.*1773T= (n.*1773T=)
c.1876T= (p.Phe626=)
c.*359T= (n.*359T=)
c.*1883T= (n.*1883T=)
c.1633T= (p.Phe545=)
c.1402-10600T= (n.1402-10600T=)
c.1969T= (p.Phe657=)
c.2149T= (p.Phe717=)
c.1816T= (p.Phe606=)
7g.117592227T>ACA368979487CFTRc.2060T>A (p.Phe687Tyr)
c.*1774T>A (n.*1774T>A)
c.1877T>A (p.Phe626Tyr)
c.*360T>A (n.*360T>A)
c.*1884T>A (n.*1884T>A)
c.1634T>A (p.Phe545Tyr)
c.1402-10599T>A (n.1402-10599T>A)
c.1970T>A (p.Phe657Tyr)
c.2150T>A (p.Phe717Tyr)
c.1817T>A (p.Phe606Tyr)
7g.117592227T>CCA368979489CFTRc.2060T>C (p.Phe687Ser)
c.*1774T>C (n.*1774T>C)
c.1877T>C (p.Phe626Ser)
c.*360T>C (n.*360T>C)
c.*1884T>C (n.*1884T>C)
c.1634T>C (p.Phe545Ser)
c.1402-10599T>C (n.1402-10599T>C)
c.1970T>C (p.Phe657Ser)
c.2150T>C (p.Phe717Ser)
c.1817T>C (p.Phe606Ser)
7g.117592227T>GCA368979492CFTRc.2060T>G (p.Phe687Cys)
c.*1774T>G (n.*1774T>G)
c.1877T>G (p.Phe626Cys)
c.*360T>G (n.*360T>G)
c.*1884T>G (n.*1884T>G)
c.1634T>G (p.Phe545Cys)
c.1402-10599T>G (n.1402-10599T>G)
c.1970T>G (p.Phe657Cys)
c.2150T>G (p.Phe717Cys)
c.1817T>G (p.Phe606Cys)
7g.117592228T>ACA368979494CFTRc.2061T>A (p.Phe687Leu)
c.*1775T>A (n.*1775T>A)
c.1878T>A (p.Phe626Leu)
c.*361T>A (n.*361T>A)
c.*1885T>A (n.*1885T>A)
c.1635T>A (p.Phe545Leu)
c.1402-10598T>A (n.1402-10598T>A)
c.1971T>A (p.Phe657Leu)
c.2151T>A (p.Phe717Leu)
c.1818T>A (p.Phe606Leu)
7g.117592228T>CCA457449026CFTRc.2061T>C (p.Phe687=)
c.*1775T>C (n.*1775T>C)
c.1878T>C (p.Phe626=)
c.*361T>C (n.*361T>C)
c.*1885T>C (n.*1885T>C)
c.1635T>C (p.Phe545=)
c.1402-10598T>C (n.1402-10598T>C)
c.1971T>C (p.Phe657=)
c.2151T>C (p.Phe717=)
c.1818T>C (p.Phe606=)
 ClinVar
7g.117592228T>GCA368979497CFTRc.2061T>G (p.Phe687Leu)
c.*1775T>G (n.*1775T>G)
c.1878T>G (p.Phe626Leu)
c.*361T>G (n.*361T>G)
c.*1885T>G (n.*1885T>G)
c.1635T>G (p.Phe545Leu)
c.1402-10598T>G (n.1402-10598T>G)
c.1971T>G (p.Phe657Leu)
c.2151T>G (p.Phe717Leu)
c.1818T>G (p.Phe606Leu)
7g.117592229A=CA1737394683CFTRc.2062A= (p.Lys688=)
c.*1776A= (n.*1776A=)
c.1879A= (p.Lys627=)
c.*362A= (n.*362A=)
c.*1886A= (n.*1886A=)
c.1636A= (p.Lys546=)
c.1402-10597A= (n.1402-10597A=)
c.1972A= (p.Lys658=)
c.2152A= (p.Lys718=)
c.1819A= (p.Lys607=)
7g.117592229A>CCA368979500CFTRc.2062A>C (p.Lys688Gln)
c.*1776A>C (n.*1776A>C)
c.1879A>C (p.Lys627Gln)
c.*362A>C (n.*362A>C)
c.*1886A>C (n.*1886A>C)
c.1636A>C (p.Lys546Gln)
c.1402-10597A>C (n.1402-10597A>C)
c.1972A>C (p.Lys658Gln)
c.2152A>C (p.Lys718Gln)
c.1819A>C (p.Lys607Gln)
 dbSNP gnomAD v2 gnomAD v4
7g.117592229A>GCA368979502CFTRc.2062A>G (p.Lys688Glu)
c.*1776A>G (n.*1776A>G)
c.1879A>G (p.Lys627Glu)
c.*362A>G (n.*362A>G)
c.*1886A>G (n.*1886A>G)
c.1636A>G (p.Lys546Glu)
c.1402-10597A>G (n.1402-10597A>G)
c.1972A>G (p.Lys658Glu)
c.2152A>G (p.Lys718Glu)
c.1819A>G (p.Lys607Glu)
7g.117592229A>TCA368979505CFTRc.2062A>T (p.Lys688Ter)
c.*1776A>T (n.*1776A>T)
c.1879A>T (p.Lys627Ter)
c.*362A>T (n.*362A>T)
c.*1886A>T (n.*1886A>T)
c.1636A>T (p.Lys546Ter)
c.1402-10597A>T (n.1402-10597A>T)
c.1972A>T (p.Lys658Ter)
c.2152A>T (p.Lys718Ter)
c.1819A>T (p.Lys607Ter)
7g.117592229_117592233delinsTTTTTGTTTGCA2580076517CFTRc.2062_2066delinsTTTTTGTTTG (p.Lys688PhefsTer?)
c.*1776_*1780delinsTTTTTGTTTG (n.*1776_*1780delinsTTTTTGTTTG)
c.1879_1883delinsTTTTTGTTTG (p.Lys627PhefsTer?)
c.*362_*366delinsTTTTTGTTTG (n.*362_*366delinsTTTTTGTTTG)
c.*1886_*1890delinsTTTTTGTTTG (n.*1886_*1890delinsTTTTTGTTTG)
c.1636_1640delinsTTTTTGTTTG (p.Lys546PhefsTer?)
c.1402-10597_1402-10593delinsTTTTTGTTTG (n.1402-10597_1402-10593delinsTTTTTGTTTG)
c.1972_1976delinsTTTTTGTTTG (p.Lys658PhefsTer?)
c.2152_2156delinsTTTTTGTTTG (p.Lys718PhefsTer?)
c.1819_1823delinsTTTTTGTTTG (p.Lys607PhefsTer?)
 ClinVar
7g.117592230A>CCA368979508CFTRc.2063A>C (p.Lys688Thr)
c.*1777A>C (n.*1777A>C)
c.1880A>C (p.Lys627Thr)
c.*363A>C (n.*363A>C)
c.*1887A>C (n.*1887A>C)
c.1637A>C (p.Lys546Thr)
c.1402-10596A>C (n.1402-10596A>C)
c.1973A>C (p.Lys658Thr)
c.2153A>C (p.Lys718Thr)
c.1820A>C (p.Lys607Thr)
7g.117592230A>GCA368979509CFTRc.2063A>G (p.Lys688Arg)
c.*1777A>G (n.*1777A>G)
c.1880A>G (p.Lys627Arg)
c.*363A>G (n.*363A>G)
c.*1887A>G (n.*1887A>G)
c.1637A>G (p.Lys546Arg)
c.1402-10596A>G (n.1402-10596A>G)
c.1973A>G (p.Lys658Arg)
c.2153A>G (p.Lys718Arg)
c.1820A>G (p.Lys607Arg)
7g.117592230A>TCA368979511CFTRc.2063A>T (p.Lys688Ile)
c.*1777A>T (n.*1777A>T)
c.1880A>T (p.Lys627Ile)
c.*363A>T (n.*363A>T)
c.*1887A>T (n.*1887A>T)
c.1637A>T (p.Lys546Ile)
c.1402-10596A>T (n.1402-10596A>T)
c.1973A>T (p.Lys658Ile)
c.2153A>T (p.Lys718Ile)
c.1820A>T (p.Lys607Ile)
 gnomAD v4
7g.117592231A>CCA368979514CFTRc.2064A>C (p.Lys688Asn)
c.*1778A>C (n.*1778A>C)
c.1881A>C (p.Lys627Asn)
c.*364A>C (n.*364A>C)
c.*1888A>C (n.*1888A>C)
c.1638A>C (p.Lys546Asn)
c.1402-10595A>C (n.1402-10595A>C)
c.1974A>C (p.Lys658Asn)
c.2154A>C (p.Lys718Asn)
c.1821A>C (p.Lys607Asn)
7g.117592231A>GCA457449027CFTRc.2064A>G (p.Lys688=)
c.*1778A>G (n.*1778A>G)
c.1881A>G (p.Lys627=)
c.*364A>G (n.*364A>G)
c.*1888A>G (n.*1888A>G)
c.1638A>G (p.Lys546=)
c.1402-10595A>G (n.1402-10595A>G)
c.1974A>G (p.Lys658=)
c.2154A>G (p.Lys718=)
c.1821A>G (p.Lys607=)
 ClinVar
7g.117592231A>TCA368979517CFTRc.2064A>T (p.Lys688Asn)
c.*1778A>T (n.*1778A>T)
c.1881A>T (p.Lys627Asn)
c.*364A>T (n.*364A>T)
c.*1888A>T (n.*1888A>T)
c.1638A>T (p.Lys546Asn)
c.1402-10595A>T (n.1402-10595A>T)
c.1974A>T (p.Lys658Asn)
c.2154A>T (p.Lys718Asn)
c.1821A>T (p.Lys607Asn)
7g.117592232C>ACA368979520CFTRc.2065C>A (p.Gln689Lys)
c.*1779C>A (n.*1779C>A)
c.1882C>A (p.Gln628Lys)
c.*365C>A (n.*365C>A)
c.*1889C>A (n.*1889C>A)
c.1639C>A (p.Gln547Lys)
c.1402-10594C>A (n.1402-10594C>A)
c.1975C>A (p.Gln659Lys)
c.2155C>A (p.Gln719Lys)
c.1822C>A (p.Gln608Lys)
7g.117592232C=CA1737394686CFTRc.2065C= (p.Gln689=)
c.*1779C= (n.*1779C=)
c.1882C= (p.Gln628=)
c.*365C= (n.*365C=)
c.*1889C= (n.*1889C=)
c.1639C= (p.Gln547=)
c.1402-10594C= (n.1402-10594C=)
c.1975C= (p.Gln659=)
c.2155C= (p.Gln719=)
c.1822C= (p.Gln608=)
7g.117592232C>GCA368979524CFTRc.2065C>G (p.Gln689Glu)
c.*1779C>G (n.*1779C>G)
c.1882C>G (p.Gln628Glu)
c.*365C>G (n.*365C>G)
c.*1889C>G (n.*1889C>G)
c.1639C>G (p.Gln547Glu)
c.1402-10594C>G (n.1402-10594C>G)
c.1975C>G (p.Gln659Glu)
c.2155C>G (p.Gln719Glu)
c.1822C>G (p.Gln608Glu)
7g.117592232C>TCA368979522CFTRc.2065C>T (p.Gln689Ter)
c.*1779C>T (n.*1779C>T)
c.1882C>T (p.Gln628Ter)
c.*365C>T (n.*365C>T)
c.*1889C>T (n.*1889C>T)
c.1639C>T (p.Gln547Ter)
c.1402-10594C>T (n.1402-10594C>T)
c.1975C>T (p.Gln659Ter)
c.2155C>T (p.Gln719Ter)
c.1822C>T (p.Gln608Ter)
 ClinVar dbSNP
7g.117592233A=CA1737394687CFTRc.2066A= (p.Gln689=)
c.*1780A= (n.*1780A=)
c.1883A= (p.Gln628=)
c.*366A= (n.*366A=)
c.*1890A= (n.*1890A=)
c.1640A= (p.Gln547=)
c.1402-10593A= (n.1402-10593A=)
c.1976A= (p.Gln659=)
c.2156A= (p.Gln719=)
c.1823A= (p.Gln608=)
7g.117592233A>CCA368979527CFTRc.2066A>C (p.Gln689Pro)
c.*1780A>C (n.*1780A>C)
c.1883A>C (p.Gln628Pro)
c.*366A>C (n.*366A>C)
c.*1890A>C (n.*1890A>C)
c.1640A>C (p.Gln547Pro)
c.1402-10593A>C (n.1402-10593A>C)
c.1976A>C (p.Gln659Pro)
c.2156A>C (p.Gln719Pro)
c.1823A>C (p.Gln608Pro)
 ClinVar dbSNP
7g.117592233A>GCA368979528CFTRc.2066A>G (p.Gln689Arg)
c.*1780A>G (n.*1780A>G)
c.1883A>G (p.Gln628Arg)
c.*366A>G (n.*366A>G)
c.*1890A>G (n.*1890A>G)
c.1640A>G (p.Gln547Arg)
c.1402-10593A>G (n.1402-10593A>G)
c.1976A>G (p.Gln659Arg)
c.2156A>G (p.Gln719Arg)
c.1823A>G (p.Gln608Arg)
 gnomAD v4
7g.117592233A>TCA368979531CFTRc.2066A>T (p.Gln689Leu)
c.*1780A>T (n.*1780A>T)
c.1883A>T (p.Gln628Leu)
c.*366A>T (n.*366A>T)
c.*1890A>T (n.*1890A>T)
c.1640A>T (p.Gln547Leu)
c.1402-10593A>T (n.1402-10593A>T)
c.1976A>T (p.Gln659Leu)
c.2156A>T (p.Gln719Leu)
c.1823A>T (p.Gln608Leu)
7g.117592234G>ACA457449028CFTRc.2067G>A (p.Gln689=)
c.*1781G>A (n.*1781G>A)
c.1884G>A (p.Gln628=)
c.*367G>A (n.*367G>A)
c.*1891G>A (n.*1891G>A)
c.1641G>A (p.Gln547=)
c.1402-10592G>A (n.1402-10592G>A)
c.1977G>A (p.Gln659=)
c.2157G>A (p.Gln719=)
c.1824G>A (p.Gln608=)
 ClinVar gnomAD v4 COSMIC
7g.117592234G>CCA368979533CFTRc.2067G>C (p.Gln689His)
c.*1781G>C (n.*1781G>C)
c.1884G>C (p.Gln628His)
c.*367G>C (n.*367G>C)
c.*1891G>C (n.*1891G>C)
c.1641G>C (p.Gln547His)
c.1402-10592G>C (n.1402-10592G>C)
c.1977G>C (p.Gln659His)
c.2157G>C (p.Gln719His)
c.1824G>C (p.Gln608His)
7g.117592234G>TCA368979535CFTRc.2067G>T (p.Gln689His)
c.*1781G>T (n.*1781G>T)
c.1884G>T (p.Gln628His)
c.*367G>T (n.*367G>T)
c.*1891G>T (n.*1891G>T)
c.1641G>T (p.Gln547His)
c.1402-10592G>T (n.1402-10592G>T)
c.1977G>T (p.Gln659His)
c.2157G>T (p.Gln719His)
c.1824G>T (p.Gln608His)
7g.117592235A=CA1737394688CFTRc.2068A= (p.Thr690=)
c.*1782A= (n.*1782A=)
c.1885A= (p.Thr629=)
c.*368A= (n.*368A=)
c.*1892A= (n.*1892A=)
c.1642A= (p.Thr548=)
c.1402-10591A= (n.1402-10591A=)
c.1978A= (p.Thr660=)
c.2158A= (p.Thr720=)
c.1825A= (p.Thr609=)
7g.117592235A>CCA368979539CFTRc.2068A>C (p.Thr690Pro)
c.*1782A>C (n.*1782A>C)
c.1885A>C (p.Thr629Pro)
c.*368A>C (n.*368A>C)
c.*1892A>C (n.*1892A>C)
c.1642A>C (p.Thr548Pro)
c.1402-10591A>C (n.1402-10591A>C)
c.1978A>C (p.Thr660Pro)
c.2158A>C (p.Thr720Pro)
c.1825A>C (p.Thr609Pro)
7g.117592235A>GCA4451136CFTRc.2068A>G (p.Thr690Ala)
c.*1782A>G (n.*1782A>G)
c.1885A>G (p.Thr629Ala)
c.*368A>G (n.*368A>G)
c.*1892A>G (n.*1892A>G)
c.1642A>G (p.Thr548Ala)
c.1402-10591A>G (n.1402-10591A>G)
c.1978A>G (p.Thr660Ala)
c.2158A>G (p.Thr720Ala)
c.1825A>G (p.Thr609Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117592235A>TCA368979542CFTRc.2068A>T (p.Thr690Ser)
c.*1782A>T (n.*1782A>T)
c.1885A>T (p.Thr629Ser)
c.*368A>T (n.*368A>T)
c.*1892A>T (n.*1892A>T)
c.1642A>T (p.Thr548Ser)
c.1402-10591A>T (n.1402-10591A>T)
c.1978A>T (p.Thr660Ser)
c.2158A>T (p.Thr720Ser)
c.1825A>T (p.Thr609Ser)
7g.117592236C>ACA368979546CFTRc.2069C>A (p.Thr690Asn)
c.*1783C>A (n.*1783C>A)
c.1886C>A (p.Thr629Asn)
c.*369C>A (n.*369C>A)
c.*1893C>A (n.*1893C>A)
c.1643C>A (p.Thr548Asn)
c.1402-10590C>A (n.1402-10590C>A)
c.1979C>A (p.Thr660Asn)
c.2159C>A (p.Thr720Asn)
c.1826C>A (p.Thr609Asn)
7g.117592236C>GCA368979548CFTRc.2069C>G (p.Thr690Ser)
c.*1783C>G (n.*1783C>G)
c.1886C>G (p.Thr629Ser)
c.*369C>G (n.*369C>G)
c.*1893C>G (n.*1893C>G)
c.1643C>G (p.Thr548Ser)
c.1402-10590C>G (n.1402-10590C>G)
c.1979C>G (p.Thr660Ser)
c.2159C>G (p.Thr720Ser)
c.1826C>G (p.Thr609Ser)
7g.117592236C>TCA368979551CFTRc.2069C>T (p.Thr690Ile)
c.*1783C>T (n.*1783C>T)
c.1886C>T (p.Thr629Ile)
c.*369C>T (n.*369C>T)
c.*1893C>T (n.*1893C>T)
c.1643C>T (p.Thr548Ile)
c.1402-10590C>T (n.1402-10590C>T)
c.1979C>T (p.Thr660Ile)
c.2159C>T (p.Thr720Ile)
c.1826C>T (p.Thr609Ile)
7g.117592237T>ACA457449029CFTRc.2070T>A (p.Thr690=)
c.*1784T>A (n.*1784T>A)
c.1887T>A (p.Thr629=)
c.*370T>A (n.*370T>A)
c.*1894T>A (n.*1894T>A)
c.1644T>A (p.Thr548=)
c.1402-10589T>A (n.1402-10589T>A)
c.1980T>A (p.Thr660=)
c.2160T>A (p.Thr720=)
c.1827T>A (p.Thr609=)
7g.117592237T>CCA457449031CFTRc.2070T>C (p.Thr690=)
c.*1784T>C (n.*1784T>C)
c.1887T>C (p.Thr629=)
c.*370T>C (n.*370T>C)
c.*1894T>C (n.*1894T>C)
c.1644T>C (p.Thr548=)
c.1402-10589T>C (n.1402-10589T>C)
c.1980T>C (p.Thr660=)
c.2160T>C (p.Thr720=)
c.1827T>C (p.Thr609=)
 ClinVar gnomAD v4
7g.117592237T>GCA457449030CFTRc.2070T>G (p.Thr690=)
c.*1784T>G (n.*1784T>G)
c.1887T>G (p.Thr629=)
c.*370T>G (n.*370T>G)
c.*1894T>G (n.*1894T>G)
c.1644T>G (p.Thr548=)
c.1402-10589T>G (n.1402-10589T>G)
c.1980T>G (p.Thr660=)
c.2160T>G (p.Thr720=)
c.1827T>G (p.Thr609=)
 gnomAD v4
7g.117592238G>ACA368979554CFTRc.2071G>A (p.Gly691Arg)
c.*1785G>A (n.*1785G>A)
c.1888G>A (p.Gly630Arg)
c.*371G>A (n.*371G>A)
c.*1895G>A (n.*1895G>A)
c.1645G>A (p.Gly549Arg)
c.1402-10588G>A (n.1402-10588G>A)
c.1981G>A (p.Gly661Arg)
c.2161G>A (p.Gly721Arg)
c.1828G>A (p.Gly610Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.117592238G>CCA368979556CFTRc.2071G>C (p.Gly691Arg)
c.*1785G>C (n.*1785G>C)
c.1888G>C (p.Gly630Arg)
c.*371G>C (n.*371G>C)
c.*1895G>C (n.*1895G>C)
c.1645G>C (p.Gly549Arg)
c.1402-10588G>C (n.1402-10588G>C)
c.1981G>C (p.Gly661Arg)
c.2161G>C (p.Gly721Arg)
c.1828G>C (p.Gly610Arg)
7g.117592238G=CA1737394689CFTRc.2071G= (p.Gly691=)
c.*1785G= (n.*1785G=)
c.1888G= (p.Gly630=)
c.*371G= (n.*371G=)
c.*1895G= (n.*1895G=)
c.1645G= (p.Gly549=)
c.1402-10588G= (n.1402-10588G=)
c.1981G= (p.Gly661=)
c.2161G= (p.Gly721=)
c.1828G= (p.Gly610=)
7g.117592238G>TCA368979558CFTRc.2071G>T (p.Gly691Ter)
c.*1785G>T (n.*1785G>T)
c.1888G>T (p.Gly630Ter)
c.*371G>T (n.*371G>T)
c.*1895G>T (n.*1895G>T)
c.1645G>T (p.Gly549Ter)
c.1402-10588G>T (n.1402-10588G>T)
c.1981G>T (p.Gly661Ter)
c.2161G>T (p.Gly721Ter)
c.1828G>T (p.Gly610Ter)
7g.117592239G>ACA368979560CFTRc.2072G>A (p.Gly691Glu)
c.*1786G>A (n.*1786G>A)
c.1889G>A (p.Gly630Glu)
c.*372G>A (n.*372G>A)
c.*1896G>A (n.*1896G>A)
c.1646G>A (p.Gly549Glu)
c.1402-10587G>A (n.1402-10587G>A)
c.1982G>A (p.Gly661Glu)
c.2162G>A (p.Gly721Glu)
c.1829G>A (p.Gly610Glu)
 dbSNP
7g.117592239G>CCA368979561CFTRc.2072G>C (p.Gly691Ala)
c.*1786G>C (n.*1786G>C)
c.1889G>C (p.Gly630Ala)
c.*372G>C (n.*372G>C)
c.*1896G>C (n.*1896G>C)
c.1646G>C (p.Gly549Ala)
c.1402-10587G>C (n.1402-10587G>C)
c.1982G>C (p.Gly661Ala)
c.2162G>C (p.Gly721Ala)
c.1829G>C (p.Gly610Ala)
7g.117592239G=CA1737394690CFTRc.2072G= (p.Gly691=)
c.*1786G= (n.*1786G=)
c.1889G= (p.Gly630=)
c.*372G= (n.*372G=)
c.*1896G= (n.*1896G=)
c.1646G= (p.Gly549=)
c.1402-10587G= (n.1402-10587G=)
c.1982G= (p.Gly661=)
c.2162G= (p.Gly721=)
c.1829G= (p.Gly610=)
7g.117592239G>TCA368979562CFTRc.2072G>T (p.Gly691Val)
c.*1786G>T (n.*1786G>T)
c.1889G>T (p.Gly630Val)
c.*372G>T (n.*372G>T)
c.*1896G>T (n.*1896G>T)
c.1646G>T (p.Gly549Val)
c.1402-10587G>T (n.1402-10587G>T)
c.1982G>T (p.Gly661Val)
c.2162G>T (p.Gly721Val)
c.1829G>T (p.Gly610Val)
 ClinVar gnomAD v4
7g.117592240A>CCA457449032CFTRc.2073A>C (p.Gly691=)
c.*1787A>C (n.*1787A>C)
c.1890A>C (p.Gly630=)
c.*373A>C (n.*373A>C)
c.*1897A>C (n.*1897A>C)
c.1647A>C (p.Gly549=)
c.1402-10586A>C (n.1402-10586A>C)
c.1983A>C (p.Gly661=)
c.2163A>C (p.Gly721=)
c.1830A>C (p.Gly610=)
7g.117592240A>GCA457449033CFTRc.2073A>G (p.Gly691=)
c.*1787A>G (n.*1787A>G)
c.1890A>G (p.Gly630=)
c.*373A>G (n.*373A>G)
c.*1897A>G (n.*1897A>G)
c.1647A>G (p.Gly549=)
c.1402-10586A>G (n.1402-10586A>G)
c.1983A>G (p.Gly661=)
c.2163A>G (p.Gly721=)
c.1830A>G (p.Gly610=)
7g.117592240A>TCA457449034CFTRc.2073A>T (p.Gly691=)
c.*1787A>T (n.*1787A>T)
c.1890A>T (p.Gly630=)
c.*373A>T (n.*373A>T)
c.*1897A>T (n.*1897A>T)
c.1647A>T (p.Gly549=)
c.1402-10586A>T (n.1402-10586A>T)
c.1983A>T (p.Gly661=)
c.2163A>T (p.Gly721=)
c.1830A>T (p.Gly610=)
 COSMIC
7g.117592241G>ACA368979563CFTRc.2074G>A (p.Glu692Lys)
c.*1788G>A (n.*1788G>A)
c.1891G>A (p.Glu631Lys)
c.*374G>A (n.*374G>A)
c.*1898G>A (n.*1898G>A)
c.1648G>A (p.Glu550Lys)
c.1402-10585G>A (n.1402-10585G>A)
c.1984G>A (p.Glu662Lys)
c.2164G>A (p.Glu722Lys)
c.1831G>A (p.Glu611Lys)
7g.117592241G>CCA368979564CFTRc.2074G>C (p.Glu692Gln)
c.*1788G>C (n.*1788G>C)
c.1891G>C (p.Glu631Gln)
c.*374G>C (n.*374G>C)
c.*1898G>C (n.*1898G>C)
c.1648G>C (p.Glu550Gln)
c.1402-10585G>C (n.1402-10585G>C)
c.1984G>C (p.Glu662Gln)
c.2164G>C (p.Glu722Gln)
c.1831G>C (p.Glu611Gln)
 ClinVar
7g.117592241G=CA1737394691CFTRc.2074G= (p.Glu692=)
c.*1788G= (n.*1788G=)
c.1891G= (p.Glu631=)
c.*374G= (n.*374G=)
c.*1898G= (n.*1898G=)
c.1648G= (p.Glu550=)
c.1402-10585G= (n.1402-10585G=)
c.1984G= (p.Glu662=)
c.2164G= (p.Glu722=)
c.1831G= (p.Glu611=)
7g.117592241G>TCA326742CFTRc.2074G>T (p.Glu692Ter)
c.*1788G>T (n.*1788G>T)
c.1891G>T (p.Glu631Ter)
c.*374G>T (n.*374G>T)
c.*1898G>T (n.*1898G>T)
c.1648G>T (p.Glu550Ter)
c.1402-10585G>T (n.1402-10585G>T)
c.1984G>T (p.Glu662Ter)
c.2164G>T (p.Glu722Ter)
c.1831G>T (p.Glu611Ter)
 ClinVar dbSNP
7g.117592242A=CA1737394693CFTRc.2075A= (p.Glu692=)
c.*1789A= (n.*1789A=)
c.1892A= (p.Glu631=)
c.*375A= (n.*375A=)
c.*1899A= (n.*1899A=)
c.1649A= (p.Glu550=)
c.1402-10584A= (n.1402-10584A=)
c.1985A= (p.Glu662=)
c.2165A= (p.Glu722=)
c.1832A= (p.Glu611=)
7g.117592242A>CCA368979567CFTRc.2075A>C (p.Glu692Ala)
c.*1789A>C (n.*1789A>C)
c.1892A>C (p.Glu631Ala)
c.*375A>C (n.*375A>C)
c.*1899A>C (n.*1899A>C)
c.1649A>C (p.Glu550Ala)
c.1402-10584A>C (n.1402-10584A>C)
c.1985A>C (p.Glu662Ala)
c.2165A>C (p.Glu722Ala)
c.1832A>C (p.Glu611Ala)
7g.117592242A>GCA368979565CFTRc.2075A>G (p.Glu692Gly)
c.*1789A>G (n.*1789A>G)
c.1892A>G (p.Glu631Gly)
c.*375A>G (n.*375A>G)
c.*1899A>G (n.*1899A>G)
c.1649A>G (p.Glu550Gly)
c.1402-10584A>G (n.1402-10584A>G)
c.1985A>G (p.Glu662Gly)
c.2165A>G (p.Glu722Gly)
c.1832A>G (p.Glu611Gly)
 dbSNP
7g.117592242A>TCA368979566CFTRc.2075A>T (p.Glu692Val)
c.*1789A>T (n.*1789A>T)
c.1892A>T (p.Glu631Val)
c.*375A>T (n.*375A>T)
c.*1899A>T (n.*1899A>T)
c.1649A>T (p.Glu550Val)
c.1402-10584A>T (n.1402-10584A>T)
c.1985A>T (p.Glu662Val)
c.2165A>T (p.Glu722Val)
c.1832A>T (p.Glu611Val)
 ClinVar
7g.117592243G>ACA457449035CFTRc.2076G>A (p.Glu692=)
c.*1790G>A (n.*1790G>A)
c.1893G>A (p.Glu631=)
c.*376G>A (n.*376G>A)
c.*1900G>A (n.*1900G>A)
c.1650G>A (p.Glu550=)
c.1402-10583G>A (n.1402-10583G>A)
c.1986G>A (p.Glu662=)
c.2166G>A (p.Glu722=)
c.1833G>A (p.Glu611=)
 ClinVar
7g.117592243G>CCA368979568CFTRc.2076G>C (p.Glu692Asp)
c.*1790G>C (n.*1790G>C)
c.1893G>C (p.Glu631Asp)
c.*376G>C (n.*376G>C)
c.*1900G>C (n.*1900G>C)
c.1650G>C (p.Glu550Asp)
c.1402-10583G>C (n.1402-10583G>C)
c.1986G>C (p.Glu662Asp)
c.2166G>C (p.Glu722Asp)
c.1833G>C (p.Glu611Asp)
 ClinVar
7g.117592243G>TCA368979569CFTRc.2076G>T (p.Glu692Asp)
c.*1790G>T (n.*1790G>T)
c.1893G>T (p.Glu631Asp)
c.*376G>T (n.*376G>T)
c.*1900G>T (n.*1900G>T)
c.1650G>T (p.Glu550Asp)
c.1402-10583G>T (n.1402-10583G>T)
c.1986G>T (p.Glu662Asp)
c.2166G>T (p.Glu722Asp)
c.1833G>T (p.Glu611Asp)
7g.117592243_117592245delinsGTTCA1737394694CFTRc.2076_2078delinsGTT (p.Glu692=)
c.*1790_*1792delinsGTT (n.*1790_*1792delinsGTT)
c.1893_1895delinsGTT (p.Glu631=)
c.*376_*378delinsGTT (n.*376_*378delinsGTT)
c.*1900_*1902delinsGTT (n.*1900_*1902delinsGTT)
c.1650_1652delinsGTT (p.Glu550=)
c.1402-10583_1402-10581delinsGTT (n.1402-10583_1402-10581delinsGTT)
c.1986_1988delinsGTT (p.Glu662=)
c.2166_2168delinsGTT (p.Glu722=)
c.1833_1835delinsGTT (p.Glu611=)
7g.117592244T>ACA368979570CFTRc.2077T>A (p.Phe693Ile)
c.*1791T>A (n.*1791T>A)
c.1894T>A (p.Phe632Ile)
c.*377T>A (n.*377T>A)
c.*1901T>A (n.*1901T>A)
c.1651T>A (p.Phe551Ile)
c.1402-10582T>A (n.1402-10582T>A)
c.1987T>A (p.Phe663Ile)
c.2167T>A (p.Phe723Ile)
c.1834T>A (p.Phe612Ile)
7g.117592244T>CCA326744CFTRc.2077T>C (p.Phe693Leu)
c.*1791T>C (n.*1791T>C)
c.1894T>C (p.Phe632Leu)
c.*377T>C (n.*377T>C)
c.*1901T>C (n.*1901T>C)
c.1651T>C (p.Phe551Leu)
c.1402-10582T>C (n.1402-10582T>C)
c.1987T>C (p.Phe663Leu)
c.2167T>C (p.Phe723Leu)
c.1834T>C (p.Phe612Leu)
 ClinVar dbSNP
7g.117592244T>GCA368979572CFTRc.2077T>G (p.Phe693Val)
c.*1791T>G (n.*1791T>G)
c.1894T>G (p.Phe632Val)
c.*377T>G (n.*377T>G)
c.*1901T>G (n.*1901T>G)
c.1651T>G (p.Phe551Val)
c.1402-10582T>G (n.1402-10582T>G)
c.1987T>G (p.Phe663Val)
c.2167T>G (p.Phe723Val)
c.1834T>G (p.Phe612Val)
7g.117592244T=CA1737394698CFTRc.2077T= (p.Phe693=)
c.*1791T= (n.*1791T=)
c.1894T= (p.Phe632=)
c.*377T= (n.*377T=)
c.*1901T= (n.*1901T=)
c.1651T= (p.Phe551=)
c.1402-10582T= (n.1402-10582T=)
c.1987T= (p.Phe663=)
c.2167T= (p.Phe723=)
c.1834T= (p.Phe612=)
7g.117592245_117592246delCA4451137CFTRc.2078_2079del (p.Phe693TrpfsTer?)
c.*1792_*1793del (n.*1792_*1793del)
c.1895_1896del (p.Phe632TrpfsTer?)
c.*378_*379del (n.*378_*379del)
c.*1902_*1903del (n.*1902_*1903del)
c.1652_1653del (p.Phe551TrpfsTer?)
c.1402-10581_1402-10580del (n.1402-10581_1402-10580del)
c.1988_1989del (p.Phe663TrpfsTer?)
c.2168_2169del (p.Phe723TrpfsTer?)
c.1835_1836del (p.Phe612TrpfsTer?)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.117592245T>ACA368979580CFTRc.2078T>A (p.Phe693Tyr)
c.*1792T>A (n.*1792T>A)
c.1895T>A (p.Phe632Tyr)
c.*378T>A (n.*378T>A)
c.*1902T>A (n.*1902T>A)
c.1652T>A (p.Phe551Tyr)
c.1402-10581T>A (n.1402-10581T>A)
c.1988T>A (p.Phe663Tyr)
c.2168T>A (p.Phe723Tyr)
c.1835T>A (p.Phe612Tyr)
 gnomAD v4
7g.117592245T>CCA368979579CFTRc.2078T>C (p.Phe693Ser)
c.*1792T>C (n.*1792T>C)
c.1895T>C (p.Phe632Ser)
c.*378T>C (n.*378T>C)
c.*1902T>C (n.*1902T>C)
c.1652T>C (p.Phe551Ser)
c.1402-10581T>C (n.1402-10581T>C)
c.1988T>C (p.Phe663Ser)
c.2168T>C (p.Phe723Ser)
c.1835T>C (p.Phe612Ser)
 dbSNP gnomAD v3 gnomAD v4
7g.117592245T>GCA368979576CFTRc.2078T>G (p.Phe693Cys)
c.*1792T>G (n.*1792T>G)
c.1895T>G (p.Phe632Cys)
c.*378T>G (n.*378T>G)
c.*1902T>G (n.*1902T>G)
c.1652T>G (p.Phe551Cys)
c.1402-10581T>G (n.1402-10581T>G)
c.1988T>G (p.Phe663Cys)
c.2168T>G (p.Phe723Cys)
c.1835T>G (p.Phe612Cys)
7g.117592245T=CA1737394701CFTRc.2078T= (p.Phe693=)
c.*1792T= (n.*1792T=)
c.1895T= (p.Phe632=)
c.*378T= (n.*378T=)
c.*1902T= (n.*1902T=)
c.1652T= (p.Phe551=)
c.1402-10581T= (n.1402-10581T=)
c.1988T= (p.Phe663=)
c.2168T= (p.Phe723=)
c.1835T= (p.Phe612=)
7g.117592246T>ACA368979583CFTRc.2079T>A (p.Phe693Leu)
c.*1793T>A (n.*1793T>A)
c.1896T>A (p.Phe632Leu)
c.*379T>A (n.*379T>A)
c.*1903T>A (n.*1903T>A)
c.1653T>A (p.Phe551Leu)
c.1402-10580T>A (n.1402-10580T>A)
c.1989T>A (p.Phe663Leu)
c.2169T>A (p.Phe723Leu)
c.1836T>A (p.Phe612Leu)
7g.117592246T>CCA457449036CFTRc.2079T>C (p.Phe693=)
c.*1793T>C (n.*1793T>C)
c.1896T>C (p.Phe632=)
c.*379T>C (n.*379T>C)
c.*1903T>C (n.*1903T>C)
c.1653T>C (p.Phe551=)
c.1402-10580T>C (n.1402-10580T>C)
c.1989T>C (p.Phe663=)
c.2169T>C (p.Phe723=)
c.1836T>C (p.Phe612=)
7g.117592246T>GCA240239CFTRc.2079T>G (p.Phe693Leu)
c.*1793T>G (n.*1793T>G)
c.1896T>G (p.Phe632Leu)
c.*379T>G (n.*379T>G)
c.*1903T>G (n.*1903T>G)
c.1653T>G (p.Phe551Leu)
c.1402-10580T>G (n.1402-10580T>G)
c.1989T>G (p.Phe663Leu)
c.2169T>G (p.Phe723Leu)
c.1836T>G (p.Phe612Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117592246T=CA1737394707CFTRc.2079T= (p.Phe693=)
c.*1793T= (n.*1793T=)
c.1896T= (p.Phe632=)
c.*379T= (n.*379T=)
c.*1903T= (n.*1903T=)
c.1653T= (p.Phe551=)
c.1402-10580T= (n.1402-10580T=)
c.1989T= (p.Phe663=)
c.2169T= (p.Phe723=)
c.1836T= (p.Phe612=)
7g.117592247G>ACA368979589CFTRc.2080G>A (p.Gly694Arg)
c.*1794G>A (n.*1794G>A)
c.1897G>A (p.Gly633Arg)
c.*380G>A (n.*380G>A)
c.*1904G>A (n.*1904G>A)
c.1654G>A (p.Gly552Arg)
c.1402-10579G>A (n.1402-10579G>A)
c.1990G>A (p.Gly664Arg)
c.2170G>A (p.Gly724Arg)
c.1837G>A (p.Gly613Arg)
 COSMIC
7g.117592247G>CCA368979591CFTRc.2080G>C (p.Gly694Arg)
c.*1794G>C (n.*1794G>C)
c.1897G>C (p.Gly633Arg)
c.*380G>C (n.*380G>C)
c.*1904G>C (n.*1904G>C)
c.1654G>C (p.Gly552Arg)
c.1402-10579G>C (n.1402-10579G>C)
c.1990G>C (p.Gly664Arg)
c.2170G>C (p.Gly724Arg)
c.1837G>C (p.Gly613Arg)
7g.117592247G>TCA368979593CFTRc.2080G>T (p.Gly694Trp)
c.*1794G>T (n.*1794G>T)
c.1897G>T (p.Gly633Trp)
c.*380G>T (n.*380G>T)
c.*1904G>T (n.*1904G>T)
c.1654G>T (p.Gly552Trp)
c.1402-10579G>T (n.1402-10579G>T)
c.1990G>T (p.Gly664Trp)
c.2170G>T (p.Gly724Trp)
c.1837G>T (p.Gly613Trp)
7g.117592250dupCA326745CFTRc.2083dup (p.Glu695GlyfsTer?)
c.*1797dup (n.*1797dup)
c.1900dup (p.Glu634GlyfsTer?)
c.*383dup (n.*383dup)
c.*1907dup (n.*1907dup)
c.1657dup (p.Glu553GlyfsTer?)
c.1402-10576dup (n.1402-10576dup)
c.1993dup (p.Glu665GlyfsTer?)
c.2173dup (p.Glu725GlyfsTer?)
c.1840dup (p.Glu614GlyfsTer?)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.117592250delCA2579000098CFTRc.2083del (p.Glu695LysfsTer27)
c.*1797del (n.*1797del)
c.1900del (p.Glu634LysfsTer27)
c.*383del (n.*383del)
c.*1907del (n.*1907del)
c.1657del (p.Glu553LysfsTer27)
c.1402-10576del (n.1402-10576del)
c.1993del (p.Glu665LysfsTer27)
c.2173del (p.Glu725LysfsTer27)
c.1840del (p.Glu614LysfsTer27)
 gnomAD v4
7g.117592248G>ACA368979596CFTRc.2081G>A (p.Gly694Glu)
c.*1795G>A (n.*1795G>A)
c.1898G>A (p.Gly633Glu)
c.*381G>A (n.*381G>A)
c.*1905G>A (n.*1905G>A)
c.1655G>A (p.Gly552Glu)
c.1402-10578G>A (n.1402-10578G>A)
c.1991G>A (p.Gly664Glu)
c.2171G>A (p.Gly724Glu)
c.1838G>A (p.Gly613Glu)
 COSMIC
7g.117592248G>CCA368979600CFTRc.2081G>C (p.Gly694Ala)
c.*1795G>C (n.*1795G>C)
c.1898G>C (p.Gly633Ala)
c.*381G>C (n.*381G>C)
c.*1905G>C (n.*1905G>C)
c.1655G>C (p.Gly552Ala)
c.1402-10578G>C (n.1402-10578G>C)
c.1991G>C (p.Gly664Ala)
c.2171G>C (p.Gly724Ala)
c.1838G>C (p.Gly613Ala)
7g.117592248G>TCA368979598CFTRc.2081G>T (p.Gly694Val)
c.*1795G>T (n.*1795G>T)
c.1898G>T (p.Gly633Val)
c.*381G>T (n.*381G>T)
c.*1905G>T (n.*1905G>T)
c.1655G>T (p.Gly552Val)
c.1402-10578G>T (n.1402-10578G>T)
c.1991G>T (p.Gly664Val)
c.2171G>T (p.Gly724Val)
c.1838G>T (p.Gly613Val)
7g.117592249G>ACA457449037CFTRc.2082G>A (p.Gly694=)
c.*1796G>A (n.*1796G>A)
c.1899G>A (p.Gly633=)
c.*382G>A (n.*382G>A)
c.*1906G>A (n.*1906G>A)
c.1656G>A (p.Gly552=)
c.1402-10577G>A (n.1402-10577G>A)
c.1992G>A (p.Gly664=)
c.2172G>A (p.Gly724=)
c.1839G>A (p.Gly613=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
7g.117592249G>CCA457449038CFTRc.2082G>C (p.Gly694=)
c.*1796G>C (n.*1796G>C)
c.1899G>C (p.Gly633=)
c.*382G>C (n.*382G>C)
c.*1906G>C (n.*1906G>C)
c.1656G>C (p.Gly552=)
c.1402-10577G>C (n.1402-10577G>C)
c.1992G>C (p.Gly664=)
c.2172G>C (p.Gly724=)
c.1839G>C (p.Gly613=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
7g.117592249G=CA1737394721CFTRc.2082G= (p.Gly694=)
c.*1796G= (n.*1796G=)
c.1899G= (p.Gly633=)
c.*382G= (n.*382G=)
c.*1906G= (n.*1906G=)
c.1656G= (p.Gly552=)
c.1402-10577G= (n.1402-10577G=)
c.1992G= (p.Gly664=)
c.2172G= (p.Gly724=)
c.1839G= (p.Gly613=)
7g.117592249G>TCA457449039CFTRc.2082G>T (p.Gly694=)
c.*1796G>T (n.*1796G>T)
c.1899G>T (p.Gly633=)
c.*382G>T (n.*382G>T)
c.*1906G>T (n.*1906G>T)
c.1656G>T (p.Gly552=)
c.1402-10577G>T (n.1402-10577G>T)
c.1992G>T (p.Gly664=)
c.2172G>T (p.Gly724=)
c.1839G>T (p.Gly613=)
7g.117592250G>ACA368979603CFTRc.2083G>A (p.Glu695Lys)
c.*1797G>A (n.*1797G>A)
c.1900G>A (p.Glu634Lys)
c.*383G>A (n.*383G>A)
c.*1907G>A (n.*1907G>A)
c.1657G>A (p.Glu553Lys)
c.1402-10576G>A (n.1402-10576G>A)
c.1993G>A (p.Glu665Lys)
c.2173G>A (p.Glu725Lys)
c.1840G>A (p.Glu614Lys)
 ClinVar
7g.117592250G>CCA368979605CFTRc.2083G>C (p.Glu695Gln)
c.*1797G>C (n.*1797G>C)
c.1900G>C (p.Glu634Gln)
c.*383G>C (n.*383G>C)
c.*1907G>C (n.*1907G>C)
c.1657G>C (p.Glu553Gln)
c.1402-10576G>C (n.1402-10576G>C)
c.1993G>C (p.Glu665Gln)
c.2173G>C (p.Glu725Gln)
c.1840G>C (p.Glu614Gln)
7g.117592250G>TCA368979607CFTRc.2083G>T (p.Glu695Ter)
c.*1797G>T (n.*1797G>T)
c.1900G>T (p.Glu634Ter)
c.*383G>T (n.*383G>T)
c.*1907G>T (n.*1907G>T)
c.1657G>T (p.Glu553Ter)
c.1402-10576G>T (n.1402-10576G>T)
c.1993G>T (p.Glu665Ter)
c.2173G>T (p.Glu725Ter)
c.1840G>T (p.Glu614Ter)
7g.117592250_117592251delinsGACA1737394725CFTRc.2083_2084delinsGA (p.Glu695=)
c.*1797_*1798delinsGA (n.*1797_*1798delinsGA)
c.1900_1901delinsGA (p.Glu634=)
c.*383_*384delinsGA (n.*383_*384delinsGA)
c.*1907_*1908delinsGA (n.*1907_*1908delinsGA)
c.1657_1658delinsGA (p.Glu553=)
c.1402-10576_1402-10575delinsGA (n.1402-10576_1402-10575delinsGA)
c.1993_1994delinsGA (p.Glu665=)
c.2173_2174delinsGA (p.Glu725=)
c.1840_1841delinsGA (p.Glu614=)
7g.117592251A=CA1737394734CFTRc.2084A= (p.Glu695=)
c.*1798A= (n.*1798A=)
c.1901A= (p.Glu634=)
c.*384A= (n.*384A=)
c.*1908A= (n.*1908A=)
c.1658A= (p.Glu553=)
c.1402-10575A= (n.1402-10575A=)
c.1994A= (p.Glu665=)
c.2174A= (p.Glu725=)
c.1841A= (p.Glu614=)
7g.117592251A>CCA368979611CFTRc.2084A>C (p.Glu695Ala)
c.*1798A>C (n.*1798A>C)
c.1901A>C (p.Glu634Ala)
c.*384A>C (n.*384A>C)
c.*1908A>C (n.*1908A>C)
c.1658A>C (p.Glu553Ala)
c.1402-10575A>C (n.1402-10575A>C)
c.1994A>C (p.Glu665Ala)
c.2174A>C (p.Glu725Ala)
c.1841A>C (p.Glu614Ala)
7g.117592251A>GCA4451138CFTRc.2084A>G (p.Glu695Gly)
c.*1798A>G (n.*1798A>G)
c.1901A>G (p.Glu634Gly)
c.*384A>G (n.*384A>G)
c.*1908A>G (n.*1908A>G)
c.1658A>G (p.Glu553Gly)
c.1402-10575A>G (n.1402-10575A>G)
c.1994A>G (p.Glu665Gly)
c.2174A>G (p.Glu725Gly)
c.1841A>G (p.Glu614Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
7g.117592251A>TCA368979613CFTRc.2084A>T (p.Glu695Val)
c.*1798A>T (n.*1798A>T)
c.1901A>T (p.Glu634Val)
c.*384A>T (n.*384A>T)
c.*1908A>T (n.*1908A>T)
c.1658A>T (p.Glu553Val)
c.1402-10575A>T (n.1402-10575A>T)
c.1994A>T (p.Glu665Val)
c.2174A>T (p.Glu725Val)
c.1841A>T (p.Glu614Val)
7g.117592256dupCA326748CFTRc.2089dup (p.Arg697LysfsTer?)
c.*1803dup (n.*1803dup)
c.1906dup (p.Arg636LysfsTer?)
c.*389dup (n.*389dup)
c.*1913dup (n.*1913dup)
c.1663dup (p.Arg555LysfsTer?)
c.1402-10570dup (n.1402-10570dup)
c.1999dup (p.Arg667LysfsTer?)
c.2179dup (p.Arg727LysfsTer?)
c.1846dup (p.Arg616LysfsTer?)
 ClinVar dbSNP
7g.117592256delCA645541503CFTRc.2089del (p.Arg697GlyfsTer25)
c.*1803del (n.*1803del)
c.1906del (p.Arg636GlyfsTer25)
c.*389del (n.*389del)
c.*1913del (n.*1913del)
c.1663del (p.Arg555GlyfsTer25)
c.1402-10570del (n.1402-10570del)
c.1999del (p.Arg667GlyfsTer25)
c.2179del (p.Arg727GlyfsTer25)
c.1846del (p.Arg616GlyfsTer25)
 ClinVar dbSNP COSMIC
7g.117592252A>CCA368979616CFTRc.2085A>C (p.Glu695Asp)
c.*1799A>C (n.*1799A>C)
c.1902A>C (p.Glu634Asp)
c.*385A>C (n.*385A>C)
c.*1909A>C (n.*1909A>C)
c.1659A>C (p.Glu553Asp)
c.1402-10574A>C (n.1402-10574A>C)
c.1995A>C (p.Glu665Asp)
c.2175A>C (p.Glu725Asp)
c.1842A>C (p.Glu614Asp)
7g.117592252A>GCA457449040CFTRc.2085A>G (p.Glu695=)
c.*1799A>G (n.*1799A>G)
c.1902A>G (p.Glu634=)
c.*385A>G (n.*385A>G)
c.*1909A>G (n.*1909A>G)
c.1659A>G (p.Glu553=)
c.1402-10574A>G (n.1402-10574A>G)
c.1995A>G (p.Glu665=)
c.2175A>G (p.Glu725=)
c.1842A>G (p.Glu614=)
7g.117592252A>TCA368979618CFTRc.2085A>T (p.Glu695Asp)
c.*1799A>T (n.*1799A>T)
c.1902A>T (p.Glu634Asp)
c.*385A>T (n.*385A>T)
c.*1909A>T (n.*1909A>T)
c.1659A>T (p.Glu553Asp)
c.1402-10574A>T (n.1402-10574A>T)
c.1995A>T (p.Glu665Asp)
c.2175A>T (p.Glu725Asp)
c.1842A>T (p.Glu614Asp)
7g.117592253A>CCA368979620CFTRc.2086A>C (p.Lys696Gln)
c.*1800A>C (n.*1800A>C)
c.1903A>C (p.Lys635Gln)
c.*386A>C (n.*386A>C)
c.*1910A>C (n.*1910A>C)
c.1660A>C (p.Lys554Gln)
c.1402-10573A>C (n.1402-10573A>C)
c.1996A>C (p.Lys666Gln)
c.2176A>C (p.Lys726Gln)
c.1843A>C (p.Lys615Gln)
7g.117592253A>GCA368979623CFTRc.2086A>G (p.Lys696Glu)
c.*1800A>G (n.*1800A>G)
c.1903A>G (p.Lys635Glu)
c.*386A>G (n.*386A>G)
c.*1910A>G (n.*1910A>G)
c.1660A>G (p.Lys554Glu)
c.1402-10573A>G (n.1402-10573A>G)
c.1996A>G (p.Lys666Glu)
c.2176A>G (p.Lys726Glu)
c.1843A>G (p.Lys615Glu)
7g.117592253A>TCA368979624CFTRc.2086A>T (p.Lys696Ter)
c.*1800A>T (n.*1800A>T)
c.1903A>T (p.Lys635Ter)
c.*386A>T (n.*386A>T)
c.*1910A>T (n.*1910A>T)
c.1660A>T (p.Lys554Ter)
c.1402-10573A>T (n.1402-10573A>T)
c.1996A>T (p.Lys666Ter)
c.2176A>T (p.Lys726Ter)
c.1843A>T (p.Lys615Ter)
7g.117592254A=CA1737394747CFTRc.2087A= (p.Lys696=)
c.*1801A= (n.*1801A=)
c.1904A= (p.Lys635=)
c.*387A= (n.*387A=)
c.*1911A= (n.*1911A=)
c.1661A= (p.Lys554=)
c.1402-10572A= (n.1402-10572A=)
c.1997A= (p.Lys666=)
c.2177A= (p.Lys726=)
c.1844A= (p.Lys615=)
7g.117592254A>CCA368979628CFTRc.2087A>C (p.Lys696Thr)
c.*1801A>C (n.*1801A>C)
c.1904A>C (p.Lys635Thr)
c.*387A>C (n.*387A>C)
c.*1911A>C (n.*1911A>C)
c.1661A>C (p.Lys554Thr)
c.1402-10572A>C (n.1402-10572A>C)
c.1997A>C (p.Lys666Thr)
c.2177A>C (p.Lys726Thr)
c.1844A>C (p.Lys615Thr)
7g.117592254A>GCA326746CFTRc.2087A>G (p.Lys696Arg)
c.*1801A>G (n.*1801A>G)
c.1904A>G (p.Lys635Arg)
c.*387A>G (n.*387A>G)
c.*1911A>G (n.*1911A>G)
c.1661A>G (p.Lys554Arg)
c.1402-10572A>G (n.1402-10572A>G)
c.1997A>G (p.Lys666Arg)
c.2177A>G (p.Lys726Arg)
c.1844A>G (p.Lys615Arg)
 ClinVar dbSNP gnomAD v4
7g.117592254A>TCA368979630CFTRc.2087A>T (p.Lys696Ile)
c.*1801A>T (n.*1801A>T)
c.1904A>T (p.Lys635Ile)
c.*387A>T (n.*387A>T)
c.*1911A>T (n.*1911A>T)
c.1661A>T (p.Lys554Ile)
c.1402-10572A>T (n.1402-10572A>T)
c.1997A>T (p.Lys666Ile)
c.2177A>T (p.Lys726Ile)
c.1844A>T (p.Lys615Ile)
 COSMIC
7g.117592255A>CCA368979634CFTRc.2088A>C (p.Lys696Asn)
c.*1802A>C (n.*1802A>C)
c.1905A>C (p.Lys635Asn)
c.*388A>C (n.*388A>C)
c.*1912A>C (n.*1912A>C)
c.1662A>C (p.Lys554Asn)
c.1402-10571A>C (n.1402-10571A>C)
c.1998A>C (p.Lys666Asn)
c.2178A>C (p.Lys726Asn)
c.1845A>C (p.Lys615Asn)
7g.117592255A>GCA457449041CFTRc.2088A>G (p.Lys696=)
c.*1802A>G (n.*1802A>G)
c.1905A>G (p.Lys635=)
c.*388A>G (n.*388A>G)
c.*1912A>G (n.*1912A>G)
c.1662A>G (p.Lys554=)
c.1402-10571A>G (n.1402-10571A>G)
c.1998A>G (p.Lys666=)
c.2178A>G (p.Lys726=)
c.1845A>G (p.Lys615=)
7g.117592255A>TCA368979636CFTRc.2088A>T (p.Lys696Asn)
c.*1802A>T (n.*1802A>T)
c.1905A>T (p.Lys635Asn)
c.*388A>T (n.*388A>T)
c.*1912A>T (n.*1912A>T)
c.1662A>T (p.Lys554Asn)
c.1402-10571A>T (n.1402-10571A>T)
c.1998A>T (p.Lys666Asn)
c.2178A>T (p.Lys726Asn)
c.1845A>T (p.Lys615Asn)
7g.117592256A>CCA457449042CFTRc.2089A>C (p.Arg697=)
c.*1803A>C (n.*1803A>C)
c.1906A>C (p.Arg636=)
c.*389A>C (n.*389A>C)
c.*1913A>C (n.*1913A>C)
c.1663A>C (p.Arg555=)
c.1402-10570A>C (n.1402-10570A>C)
c.1999A>C (p.Arg667=)
c.2179A>C (p.Arg727=)
c.1846A>C (p.Arg616=)
 gnomAD v4
7g.117592256A>GCA368979639CFTRc.2089A>G (p.Arg697Gly)
c.*1803A>G (n.*1803A>G)
c.1906A>G (p.Arg636Gly)
c.*389A>G (n.*389A>G)
c.*1913A>G (n.*1913A>G)
c.1663A>G (p.Arg555Gly)
c.1402-10570A>G (n.1402-10570A>G)
c.1999A>G (p.Arg667Gly)
c.2179A>G (p.Arg727Gly)
c.1846A>G (p.Arg616Gly)
7g.117592256A>TCA368979640CFTRc.2089A>T (p.Arg697Trp)
c.*1803A>T (n.*1803A>T)
c.1906A>T (p.Arg636Trp)
c.*389A>T (n.*389A>T)
c.*1913A>T (n.*1913A>T)
c.1663A>T (p.Arg555Trp)
c.1402-10570A>T (n.1402-10570A>T)
c.1999A>T (p.Arg667Trp)
c.2179A>T (p.Arg727Trp)
c.1846A>T (p.Arg616Trp)
7g.117592257G>ACA368979643CFTRc.2090G>A (p.Arg697Lys)
c.*1804G>A (n.*1804G>A)
c.1907G>A (p.Arg636Lys)
c.*390G>A (n.*390G>A)
c.*1914G>A (n.*1914G>A)
c.1664G>A (p.Arg555Lys)
c.1402-10569G>A (n.1402-10569G>A)
c.2000G>A (p.Arg667Lys)
c.2180G>A (p.Arg727Lys)
c.1847G>A (p.Arg616Lys)
 gnomAD v4
7g.117592257G>CCA368979645CFTRc.2090G>C (p.Arg697Thr)
c.*1804G>C (n.*1804G>C)
c.1907G>C (p.Arg636Thr)
c.*390G>C (n.*390G>C)
c.*1914G>C (n.*1914G>C)
c.1664G>C (p.Arg555Thr)
c.1402-10569G>C (n.1402-10569G>C)
c.2000G>C (p.Arg667Thr)
c.2180G>C (p.Arg727Thr)
c.1847G>C (p.Arg616Thr)
7g.117592257G>TCA368979648CFTRc.2090G>T (p.Arg697Met)
c.*1804G>T (n.*1804G>T)
c.1907G>T (p.Arg636Met)
c.*390G>T (n.*390G>T)
c.*1914G>T (n.*1914G>T)
c.1664G>T (p.Arg555Met)
c.1402-10569G>T (n.1402-10569G>T)
c.2000G>T (p.Arg667Met)
c.2180G>T (p.Arg727Met)
c.1847G>T (p.Arg616Met)
7g.117592258G>ACA457449043CFTRc.2091G>A (p.Arg697=)
c.*1805G>A (n.*1805G>A)
c.1908G>A (p.Arg636=)
c.*391G>A (n.*391G>A)
c.*1915G>A (n.*1915G>A)
c.1665G>A (p.Arg555=)
c.1402-10568G>A (n.1402-10568G>A)
c.2001G>A (p.Arg667=)
c.2181G>A (p.Arg727=)
c.1848G>A (p.Arg616=)
7g.117592258G>CCA368979650CFTRc.2091G>C (p.Arg697Ser)
c.*1805G>C (n.*1805G>C)
c.1908G>C (p.Arg636Ser)
c.*391G>C (n.*391G>C)
c.*1915G>C (n.*1915G>C)
c.1665G>C (p.Arg555Ser)
c.1402-10568G>C (n.1402-10568G>C)
c.2001G>C (p.Arg667Ser)
c.2181G>C (p.Arg727Ser)
c.1848G>C (p.Arg616Ser)
7g.117592258G>TCA368979652CFTRc.2091G>T (p.Arg697Ser)
c.*1805G>T (n.*1805G>T)
c.1908G>T (p.Arg636Ser)
c.*391G>T (n.*391G>T)
c.*1915G>T (n.*1915G>T)
c.1665G>T (p.Arg555Ser)
c.1402-10568G>T (n.1402-10568G>T)
c.2001G>T (p.Arg667Ser)
c.2181G>T (p.Arg727Ser)
c.1848G>T (p.Arg616Ser)
7g.117592259A>CCA368979656CFTRc.2092A>C (p.Lys698Gln)
c.*1806A>C (n.*1806A>C)
c.1909A>C (p.Lys637Gln)
c.*392A>C (n.*392A>C)
c.*1916A>C (n.*1916A>C)
c.1666A>C (p.Lys556Gln)
c.1402-10567A>C (n.1402-10567A>C)
c.2002A>C (p.Lys668Gln)
c.2182A>C (p.Lys728Gln)
c.1849A>C (p.Lys617Gln)
7g.117592259A>GCA368979657CFTRc.2092A>G (p.Lys698Glu)
c.*1806A>G (n.*1806A>G)
c.1909A>G (p.Lys637Glu)
c.*392A>G (n.*392A>G)
c.*1916A>G (n.*1916A>G)
c.1666A>G (p.Lys556Glu)
c.1402-10567A>G (n.1402-10567A>G)
c.2002A>G (p.Lys668Glu)
c.2182A>G (p.Lys728Glu)
c.1849A>G (p.Lys617Glu)
 COSMIC
7g.117592259A>TCA368979658CFTRc.2092A>T (p.Lys698Ter)
c.*1806A>T (n.*1806A>T)
c.1909A>T (p.Lys637Ter)
c.*392A>T (n.*392A>T)
c.*1916A>T (n.*1916A>T)
c.1666A>T (p.Lys556Ter)
c.1402-10567A>T (n.1402-10567A>T)
c.2002A>T (p.Lys668Ter)
c.2182A>T (p.Lys728Ter)
c.1849A>T (p.Lys617Ter)
7g.117592260A>CCA368979661CFTRc.2093A>C (p.Lys698Thr)
c.*1807A>C (n.*1807A>C)
c.1910A>C (p.Lys637Thr)
c.*393A>C (n.*393A>C)
c.*1917A>C (n.*1917A>C)
c.1667A>C (p.Lys556Thr)
c.1402-10566A>C (n.1402-10566A>C)
c.2003A>C (p.Lys668Thr)
c.2183A>C (p.Lys728Thr)
c.1850A>C (p.Lys617Thr)
7g.117592260A>GCA368979663CFTRc.2093A>G (p.Lys698Arg)
c.*1807A>G (n.*1807A>G)
c.1910A>G (p.Lys637Arg)
c.*393A>G (n.*393A>G)
c.*1917A>G (n.*1917A>G)
c.1667A>G (p.Lys556Arg)
c.1402-10566A>G (n.1402-10566A>G)
c.2003A>G (p.Lys668Arg)
c.2183A>G (p.Lys728Arg)
c.1850A>G (p.Lys617Arg)
7g.117592260A>TCA368979666CFTRc.2093A>T (p.Lys698Met)
c.*1807A>T (n.*1807A>T)
c.1910A>T (p.Lys637Met)
c.*393A>T (n.*393A>T)
c.*1917A>T (n.*1917A>T)
c.1667A>T (p.Lys556Met)
c.1402-10566A>T (n.1402-10566A>T)
c.2003A>T (p.Lys668Met)
c.2183A>T (p.Lys728Met)
c.1850A>T (p.Lys617Met)
7g.117592261G>ACA457449044CFTRc.2094G>A (p.Lys698=)
c.*1808G>A (n.*1808G>A)
c.1911G>A (p.Lys637=)
c.*394G>A (n.*394G>A)
c.*1918G>A (n.*1918G>A)
c.1668G>A (p.Lys556=)
c.1402-10565G>A (n.1402-10565G>A)
c.2004G>A (p.Lys668=)
c.2184G>A (p.Lys728=)
c.1851G>A (p.Lys617=)
 ClinVar
7g.117592261G>CCA368979668CFTRc.2094G>C (p.Lys698Asn)
c.*1808G>C (n.*1808G>C)
c.1911G>C (p.Lys637Asn)
c.*394G>C (n.*394G>C)
c.*1918G>C (n.*1918G>C)
c.1668G>C (p.Lys556Asn)
c.1402-10565G>C (n.1402-10565G>C)
c.2004G>C (p.Lys668Asn)
c.2184G>C (p.Lys728Asn)
c.1851G>C (p.Lys617Asn)
7g.117592261G>TCA368979669CFTRc.2094G>T (p.Lys698Asn)
c.*1808G>T (n.*1808G>T)
c.1911G>T (p.Lys637Asn)
c.*394G>T (n.*394G>T)
c.*1918G>T (n.*1918G>T)
c.1668G>T (p.Lys556Asn)
c.1402-10565G>T (n.1402-10565G>T)
c.2004G>T (p.Lys668Asn)
c.2184G>T (p.Lys728Asn)
c.1851G>T (p.Lys617Asn)
 COSMIC
7g.117592262A>CCA368979673CFTRc.2095A>C (p.Asn699His)
c.*1809A>C (n.*1809A>C)
c.1912A>C (p.Asn638His)
c.*395A>C (n.*395A>C)
c.*1919A>C (n.*1919A>C)
c.1669A>C (p.Asn557His)
c.1402-10564A>C (n.1402-10564A>C)
c.2005A>C (p.Asn669His)
c.2185A>C (p.Asn729His)
c.1852A>C (p.Asn618His)
7g.117592262A>GCA368979674CFTRc.2095A>G (p.Asn699Asp)
c.*1809A>G (n.*1809A>G)
c.1912A>G (p.Asn638Asp)
c.*395A>G (n.*395A>G)
c.*1919A>G (n.*1919A>G)
c.1669A>G (p.Asn557Asp)
c.1402-10564A>G (n.1402-10564A>G)
c.2005A>G (p.Asn669Asp)
c.2185A>G (p.Asn729Asp)
c.1852A>G (p.Asn618Asp)
7g.117592262A>TCA368979677CFTRc.2095A>T (p.Asn699Tyr)
c.*1809A>T (n.*1809A>T)
c.1912A>T (p.Asn638Tyr)
c.*395A>T (n.*395A>T)
c.*1919A>T (n.*1919A>T)
c.1669A>T (p.Asn557Tyr)
c.1402-10564A>T (n.1402-10564A>T)
c.2005A>T (p.Asn669Tyr)
c.2185A>T (p.Asn729Tyr)
c.1852A>T (p.Asn618Tyr)
7g.117592263A>CCA368979679CFTRc.2096A>C (p.Asn699Thr)
c.*1810A>C (n.*1810A>C)
c.1913A>C (p.Asn638Thr)
c.*396A>C (n.*396A>C)
c.*1920A>C (n.*1920A>C)
c.1670A>C (p.Asn557Thr)
c.1402-10563A>C (n.1402-10563A>C)
c.2006A>C (p.Asn669Thr)
c.2186A>C (p.Asn729Thr)
c.1853A>C (p.Asn618Thr)
7g.117592263A>GCA368979682CFTRc.2096A>G (p.Asn699Ser)
c.*1810A>G (n.*1810A>G)
c.1913A>G (p.Asn638Ser)
c.*396A>G (n.*396A>G)
c.*1920A>G (n.*1920A>G)
c.1670A>G (p.Asn557Ser)
c.1402-10563A>G (n.1402-10563A>G)
c.2006A>G (p.Asn669Ser)
c.2186A>G (p.Asn729Ser)
c.1853A>G (p.Asn618Ser)
7g.117592263A>TCA368979684CFTRc.2096A>T (p.Asn699Ile)
c.*1810A>T (n.*1810A>T)
c.1913A>T (p.Asn638Ile)
c.*396A>T (n.*396A>T)
c.*1920A>T (n.*1920A>T)
c.1670A>T (p.Asn557Ile)
c.1402-10563A>T (n.1402-10563A>T)
c.2006A>T (p.Asn669Ile)
c.2186A>T (p.Asn729Ile)
c.1853A>T (p.Asn618Ile)
 ClinVar
7g.117592264T>ACA4451139CFTRc.2097T>A (p.Asn699Lys)
c.*1811T>A (n.*1811T>A)
c.1914T>A (p.Asn638Lys)
c.*397T>A (n.*397T>A)
c.*1921T>A (n.*1921T>A)
c.1671T>A (p.Asn557Lys)
c.1402-10562T>A (n.1402-10562T>A)
c.2007T>A (p.Asn669Lys)
c.2187T>A (p.Asn729Lys)
c.1854T>A (p.Asn618Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.117592264T>CCA457449045CFTRc.2097T>C (p.Asn699=)
c.*1811T>C (n.*1811T>C)
c.1914T>C (p.Asn638=)
c.*397T>C (n.*397T>C)
c.*1921T>C (n.*1921T>C)
c.1671T>C (p.Asn557=)
c.1402-10562T>C (n.1402-10562T>C)
c.2007T>C (p.Asn669=)
c.2187T>C (p.Asn729=)
c.1854T>C (p.Asn618=)
7g.117592264T>GCA368979688CFTRc.2097T>G (p.Asn699Lys)
c.*1811T>G (n.*1811T>G)
c.1914T>G (p.Asn638Lys)
c.*397T>G (n.*397T>G)
c.*1921T>G (n.*1921T>G)
c.1671T>G (p.Asn557Lys)
c.1402-10562T>G (n.1402-10562T>G)
c.2007T>G (p.Asn669Lys)
c.2187T>G (p.Asn729Lys)
c.1854T>G (p.Asn618Lys)
7g.117592264T=CA1737394751CFTRc.2097T= (p.Asn699=)
c.*1811T= (n.*1811T=)
c.1914T= (p.Asn638=)
c.*397T= (n.*397T=)
c.*1921T= (n.*1921T=)
c.1671T= (p.Asn557=)
c.1402-10562T= (n.1402-10562T=)
c.2007T= (p.Asn669=)
c.2187T= (p.Asn729=)
c.1854T= (p.Asn618=)
7g.117592265T>ACA368979691CFTRc.2098T>A (p.Ser700Thr)
c.*1812T>A (n.*1812T>A)
c.1915T>A (p.Ser639Thr)
c.*398T>A (n.*398T>A)
c.*1922T>A (n.*1922T>A)
c.1672T>A (p.Ser558Thr)
c.1402-10561T>A (n.1402-10561T>A)
c.2008T>A (p.Ser670Thr)
c.2188T>A (p.Ser730Thr)
c.1855T>A (p.Ser619Thr)
7g.117592265T>CCA368979692CFTRc.2098T>C (p.Ser700Pro)
c.*1812T>C (n.*1812T>C)
c.1915T>C (p.Ser639Pro)
c.*398T>C (n.*398T>C)
c.*1922T>C (n.*1922T>C)
c.1672T>C (p.Ser558Pro)
c.1402-10561T>C (n.1402-10561T>C)
c.2008T>C (p.Ser670Pro)
c.2188T>C (p.Ser730Pro)
c.1855T>C (p.Ser619Pro)
 ClinVar
7g.117592265T>GCA368979695CFTRc.2098T>G (p.Ser700Ala)
c.*1812T>G (n.*1812T>G)
c.1915T>G (p.Ser639Ala)
c.*398T>G (n.*398T>G)
c.*1922T>G (n.*1922T>G)
c.1672T>G (p.Ser558Ala)
c.1402-10561T>G (n.1402-10561T>G)
c.2008T>G (p.Ser670Ala)
c.2188T>G (p.Ser730Ala)
c.1855T>G (p.Ser619Ala)
7g.117592266C>ACA368979700CFTRc.2099C>A (p.Ser700Tyr)
c.*1813C>A (n.*1813C>A)
c.1916C>A (p.Ser639Tyr)
c.*399C>A (n.*399C>A)
c.*1923C>A (n.*1923C>A)
c.1673C>A (p.Ser558Tyr)
c.1402-10560C>A (n.1402-10560C>A)
c.2009C>A (p.Ser670Tyr)
c.2189C>A (p.Ser730Tyr)
c.1856C>A (p.Ser619Tyr)
 ClinVar
7g.117592266C>GCA368979702CFTRc.2099C>G (p.Ser700Cys)
c.*1813C>G (n.*1813C>G)
c.1916C>G (p.Ser639Cys)
c.*399C>G (n.*399C>G)
c.*1923C>G (n.*1923C>G)
c.1673C>G (p.Ser558Cys)
c.1402-10560C>G (n.1402-10560C>G)
c.2009C>G (p.Ser670Cys)
c.2189C>G (p.Ser730Cys)
c.1856C>G (p.Ser619Cys)
7g.117592266C>TCA368979698CFTRc.2099C>T (p.Ser700Phe)
c.*1813C>T (n.*1813C>T)
c.1916C>T (p.Ser639Phe)
c.*399C>T (n.*399C>T)
c.*1923C>T (n.*1923C>T)
c.1673C>T (p.Ser558Phe)
c.1402-10560C>T (n.1402-10560C>T)
c.2009C>T (p.Ser670Phe)
c.2189C>T (p.Ser730Phe)
c.1856C>T (p.Ser619Phe)
7g.117592267T>ACA457449047CFTRc.2100T>A (p.Ser700=)
c.*1814T>A (n.*1814T>A)
c.1917T>A (p.Ser639=)
c.*400T>A (n.*400T>A)
c.*1924T>A (n.*1924T>A)
c.1674T>A (p.Ser558=)
c.1402-10559T>A (n.1402-10559T>A)
c.2010T>A (p.Ser670=)
c.2190T>A (p.Ser730=)
c.1857T>A (p.Ser619=)
 gnomAD v4
7g.117592267T>CCA457449048CFTRc.2100T>C (p.Ser700=)
c.*1814T>C (n.*1814T>C)
c.1917T>C (p.Ser639=)
c.*400T>C (n.*400T>C)
c.*1924T>C (n.*1924T>C)
c.1674T>C (p.Ser558=)
c.1402-10559T>C (n.1402-10559T>C)
c.2010T>C (p.Ser670=)
c.2190T>C (p.Ser730=)
c.1857T>C (p.Ser619=)
7g.117592267T>GCA457449046CFTRc.2100T>G (p.Ser700=)
c.*1814T>G (n.*1814T>G)
c.1917T>G (p.Ser639=)
c.*400T>G (n.*400T>G)
c.*1924T>G (n.*1924T>G)
c.1674T>G (p.Ser558=)
c.1402-10559T>G (n.1402-10559T>G)
c.2010T>G (p.Ser670=)
c.2190T>G (p.Ser730=)
c.1857T>G (p.Ser619=)
7g.117592268A>CCA368979705CFTRc.2101A>C (p.Ile701Leu)
c.*1815A>C (n.*1815A>C)
c.1918A>C (p.Ile640Leu)
c.*401A>C (n.*401A>C)
c.*1925A>C (n.*1925A>C)
c.1675A>C (p.Ile559Leu)
c.1402-10558A>C (n.1402-10558A>C)
c.2011A>C (p.Ile671Leu)
c.2191A>C (p.Ile731Leu)
c.1858A>C (p.Ile620Leu)
7g.117592268A>GCA368979707CFTRc.2101A>G (p.Ile701Val)
c.*1815A>G (n.*1815A>G)
c.1918A>G (p.Ile640Val)
c.*401A>G (n.*401A>G)
c.*1925A>G (n.*1925A>G)
c.1675A>G (p.Ile559Val)
c.1402-10558A>G (n.1402-10558A>G)
c.2011A>G (p.Ile671Val)
c.2191A>G (p.Ile731Val)
c.1858A>G (p.Ile620Val)
7g.117592268A>TCA368979709CFTRc.2101A>T (p.Ile701Phe)
c.*1815A>T (n.*1815A>T)
c.1918A>T (p.Ile640Phe)
c.*401A>T (n.*401A>T)
c.*1925A>T (n.*1925A>T)
c.1675A>T (p.Ile559Phe)
c.1402-10558A>T (n.1402-10558A>T)
c.2011A>T (p.Ile671Phe)
c.2191A>T (p.Ile731Phe)
c.1858A>T (p.Ile620Phe)
7g.117592269T>ACA368979713CFTRc.2102T>A (p.Ile701Asn)
c.*1816T>A (n.*1816T>A)
c.1919T>A (p.Ile640Asn)
c.*402T>A (n.*402T>A)
c.*1926T>A (n.*1926T>A)
c.1676T>A (p.Ile559Asn)
c.1402-10557T>A (n.1402-10557T>A)
c.2012T>A (p.Ile671Asn)
c.2192T>A (p.Ile731Asn)
c.1859T>A (p.Ile620Asn)
7g.117592269T>CCA368979715CFTRc.2102T>C (p.Ile701Thr)
c.*1816T>C (n.*1816T>C)
c.1919T>C (p.Ile640Thr)
c.*402T>C (n.*402T>C)
c.*1926T>C (n.*1926T>C)
c.1676T>C (p.Ile559Thr)
c.1402-10557T>C (n.1402-10557T>C)
c.2012T>C (p.Ile671Thr)
c.2192T>C (p.Ile731Thr)
c.1859T>C (p.Ile620Thr)
 gnomAD v4
7g.117592269T>GCA368979717CFTRc.2102T>G (p.Ile701Ser)
c.*1816T>G (n.*1816T>G)
c.1919T>G (p.Ile640Ser)
c.*402T>G (n.*402T>G)
c.*1926T>G (n.*1926T>G)
c.1676T>G (p.Ile559Ser)
c.1402-10557T>G (n.1402-10557T>G)
c.2012T>G (p.Ile671Ser)
c.2192T>G (p.Ile731Ser)
c.1859T>G (p.Ile620Ser)

Number of alleles fetched