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.117592362T>ACA368980346CFTRc.2195T>A (p.Leu732Ter)
c.*1909T>A (n.*1909T>A)
c.2012T>A (p.Leu671Ter)
c.*495T>A (n.*495T>A)
c.*2019T>A (n.*2019T>A)
c.1769T>A (p.Leu590Ter)
c.1402-10464T>A (n.1402-10464T>A)
c.2105T>A (p.Leu702Ter)
c.2285T>A (p.Leu762Ter)
c.1952T>A (p.Leu651Ter)
7g.117592362T>CCA368980347CFTRc.2195T>C (p.Leu732Ser)
c.*1909T>C (n.*1909T>C)
c.2012T>C (p.Leu671Ser)
c.*495T>C (n.*495T>C)
c.*2019T>C (n.*2019T>C)
c.1769T>C (p.Leu590Ser)
c.1402-10464T>C (n.1402-10464T>C)
c.2105T>C (p.Leu702Ser)
c.2285T>C (p.Leu762Ser)
c.1952T>C (p.Leu651Ser)
7g.117592362T>GCA328095CFTRc.2195T>G (p.Leu732Ter)
c.*1909T>G (n.*1909T>G)
c.2012T>G (p.Leu671Ter)
c.*495T>G (n.*495T>G)
c.*2019T>G (n.*2019T>G)
c.1769T>G (p.Leu590Ter)
c.1402-10464T>G (n.1402-10464T>G)
c.2105T>G (p.Leu702Ter)
c.2285T>G (p.Leu762Ter)
c.1952T>G (p.Leu651Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.117592362T=CA1737394995CFTRc.2195T= (p.Leu732=)
c.*1909T= (n.*1909T=)
c.2012T= (p.Leu671=)
c.*495T= (n.*495T=)
c.*2019T= (n.*2019T=)
c.1769T= (p.Leu590=)
c.1402-10464T= (n.1402-10464T=)
c.2105T= (p.Leu702=)
c.2285T= (p.Leu762=)
c.1952T= (p.Leu651=)
7g.117592363A>CCA368980348CFTRc.2196A>C (p.Leu732Phe)
c.*1910A>C (n.*1910A>C)
c.2013A>C (p.Leu671Phe)
c.*496A>C (n.*496A>C)
c.*2020A>C (n.*2020A>C)
c.1770A>C (p.Leu590Phe)
c.1402-10463A>C (n.1402-10463A>C)
c.2106A>C (p.Leu702Phe)
c.2286A>C (p.Leu762Phe)
c.1953A>C (p.Leu651Phe)
7g.117592363A>GCA457449416CFTRc.2196A>G (p.Leu732=)
c.*1910A>G (n.*1910A>G)
c.2013A>G (p.Leu671=)
c.*496A>G (n.*496A>G)
c.*2020A>G (n.*2020A>G)
c.1770A>G (p.Leu590=)
c.1402-10463A>G (n.1402-10463A>G)
c.2106A>G (p.Leu702=)
c.2286A>G (p.Leu762=)
c.1953A>G (p.Leu651=)
 gnomAD v4
7g.117592363A>TCA368980349CFTRc.2196A>T (p.Leu732Phe)
c.*1910A>T (n.*1910A>T)
c.2013A>T (p.Leu671Phe)
c.*496A>T (n.*496A>T)
c.*2020A>T (n.*2020A>T)
c.1770A>T (p.Leu590Phe)
c.1402-10463A>T (n.1402-10463A>T)
c.2106A>T (p.Leu702Phe)
c.2286A>T (p.Leu762Phe)
c.1953A>T (p.Leu651Phe)
7g.117592364G>ACA368980350CFTRc.2197G>A (p.Glu733Lys)
c.*1911G>A (n.*1911G>A)
c.2014G>A (p.Glu672Lys)
c.*497G>A (n.*497G>A)
c.*2021G>A (n.*2021G>A)
c.1771G>A (p.Glu591Lys)
c.1402-10462G>A (n.1402-10462G>A)
c.2107G>A (p.Glu703Lys)
c.2287G>A (p.Glu763Lys)
c.1954G>A (p.Glu652Lys)
7g.117592364G>CCA368980351CFTRc.2197G>C (p.Glu733Gln)
c.*1911G>C (n.*1911G>C)
c.2014G>C (p.Glu672Gln)
c.*497G>C (n.*497G>C)
c.*2021G>C (n.*2021G>C)
c.1771G>C (p.Glu591Gln)
c.1402-10462G>C (n.1402-10462G>C)
c.2107G>C (p.Glu703Gln)
c.2287G>C (p.Glu763Gln)
c.1954G>C (p.Glu652Gln)
7g.117592364G>TCA368980352CFTRc.2197G>T (p.Glu733Ter)
c.*1911G>T (n.*1911G>T)
c.2014G>T (p.Glu672Ter)
c.*497G>T (n.*497G>T)
c.*2021G>T (n.*2021G>T)
c.1771G>T (p.Glu591Ter)
c.1402-10462G>T (n.1402-10462G>T)
c.2107G>T (p.Glu703Ter)
c.2287G>T (p.Glu763Ter)
c.1954G>T (p.Glu652Ter)
7g.117592365A>CCA368980353CFTRc.2198A>C (p.Glu733Ala)
c.*1912A>C (n.*1912A>C)
c.2015A>C (p.Glu672Ala)
c.*498A>C (n.*498A>C)
c.*2022A>C (n.*2022A>C)
c.1772A>C (p.Glu591Ala)
c.1402-10461A>C (n.1402-10461A>C)
c.2108A>C (p.Glu703Ala)
c.2288A>C (p.Glu763Ala)
c.1955A>C (p.Glu652Ala)
7g.117592365A>GCA368980354CFTRc.2198A>G (p.Glu733Gly)
c.*1912A>G (n.*1912A>G)
c.2015A>G (p.Glu672Gly)
c.*498A>G (n.*498A>G)
c.*2022A>G (n.*2022A>G)
c.1772A>G (p.Glu591Gly)
c.1402-10461A>G (n.1402-10461A>G)
c.2108A>G (p.Glu703Gly)
c.2288A>G (p.Glu763Gly)
c.1955A>G (p.Glu652Gly)
7g.117592365A>TCA368980358CFTRc.2198A>T (p.Glu733Val)
c.*1912A>T (n.*1912A>T)
c.2015A>T (p.Glu672Val)
c.*498A>T (n.*498A>T)
c.*2022A>T (n.*2022A>T)
c.1772A>T (p.Glu591Val)
c.1402-10461A>T (n.1402-10461A>T)
c.2108A>T (p.Glu703Val)
c.2288A>T (p.Glu763Val)
c.1955A>T (p.Glu652Val)
7g.117592366G>ACA457449418CFTRc.2199G>A (p.Glu733=)
c.*1913G>A (n.*1913G>A)
c.2016G>A (p.Glu672=)
c.*499G>A (n.*499G>A)
c.*2023G>A (n.*2023G>A)
c.1773G>A (p.Glu591=)
c.1402-10460G>A (n.1402-10460G>A)
c.2109G>A (p.Glu703=)
c.2289G>A (p.Glu763=)
c.1956G>A (p.Glu652=)
7g.117592366G>CCA368980363CFTRc.2199G>C (p.Glu733Asp)
c.*1913G>C (n.*1913G>C)
c.2016G>C (p.Glu672Asp)
c.*499G>C (n.*499G>C)
c.*2023G>C (n.*2023G>C)
c.1773G>C (p.Glu591Asp)
c.1402-10460G>C (n.1402-10460G>C)
c.2109G>C (p.Glu703Asp)
c.2289G>C (p.Glu763Asp)
c.1956G>C (p.Glu652Asp)
7g.117592366G>TCA368980360CFTRc.2199G>T (p.Glu733Asp)
c.*1913G>T (n.*1913G>T)
c.2016G>T (p.Glu672Asp)
c.*499G>T (n.*499G>T)
c.*2023G>T (n.*2023G>T)
c.1773G>T (p.Glu591Asp)
c.1402-10460G>T (n.1402-10460G>T)
c.2109G>T (p.Glu703Asp)
c.2289G>T (p.Glu763Asp)
c.1956G>T (p.Glu652Asp)
7g.117592367A>CCA457449419CFTRc.2200A>C (p.Arg734=)
c.*1914A>C (n.*1914A>C)
c.2017A>C (p.Arg673=)
c.*500A>C (n.*500A>C)
c.*2024A>C (n.*2024A>C)
c.1774A>C (p.Arg592=)
c.1402-10459A>C (n.1402-10459A>C)
c.2110A>C (p.Arg704=)
c.2290A>C (p.Arg764=)
c.1957A>C (p.Arg653=)
7g.117592367A>GCA368980366CFTRc.2200A>G (p.Arg734Gly)
c.*1914A>G (n.*1914A>G)
c.2017A>G (p.Arg673Gly)
c.*500A>G (n.*500A>G)
c.*2024A>G (n.*2024A>G)
c.1774A>G (p.Arg592Gly)
c.1402-10459A>G (n.1402-10459A>G)
c.2110A>G (p.Arg704Gly)
c.2290A>G (p.Arg764Gly)
c.1957A>G (p.Arg653Gly)
 ClinVar gnomAD v4
7g.117592367A>TCA368980368CFTRc.2200A>T (p.Arg734Ter)
c.*1914A>T (n.*1914A>T)
c.2017A>T (p.Arg673Ter)
c.*500A>T (n.*500A>T)
c.*2024A>T (n.*2024A>T)
c.1774A>T (p.Arg592Ter)
c.1402-10459A>T (n.1402-10459A>T)
c.2110A>T (p.Arg704Ter)
c.2290A>T (p.Arg764Ter)
c.1957A>T (p.Arg653Ter)
7g.117592369_117592371delCA2684619358CFTRc.2202_2204del (p.Arg735del)
c.*1916_*1918del (n.*1916_*1918del)
c.2019_2021del (p.Arg674del)
c.*502_*504del (n.*502_*504del)
c.*2026_*2028del (n.*2026_*2028del)
c.1776_1778del (p.Arg593del)
c.1402-10457_1402-10455del (n.1402-10457_1402-10455del)
c.2112_2114del (p.Arg705del)
c.2292_2294del (p.Arg765del)
c.1959_1961del (p.Arg654del)
 gnomAD v4
7g.117592368G>ACA368980371CFTRc.2201G>A (p.Arg734Lys)
c.*1915G>A (n.*1915G>A)
c.2018G>A (p.Arg673Lys)
c.*501G>A (n.*501G>A)
c.*2025G>A (n.*2025G>A)
c.1775G>A (p.Arg592Lys)
c.1402-10458G>A (n.1402-10458G>A)
c.2111G>A (p.Arg704Lys)
c.2291G>A (p.Arg764Lys)
c.1958G>A (p.Arg653Lys)
7g.117592368G>CCA368980373CFTRc.2201G>C (p.Arg734Thr)
c.*1915G>C (n.*1915G>C)
c.2018G>C (p.Arg673Thr)
c.*501G>C (n.*501G>C)
c.*2025G>C (n.*2025G>C)
c.1775G>C (p.Arg592Thr)
c.1402-10458G>C (n.1402-10458G>C)
c.2111G>C (p.Arg704Thr)
c.2291G>C (p.Arg764Thr)
c.1958G>C (p.Arg653Thr)
7g.117592368G>TCA368980375CFTRc.2201G>T (p.Arg734Ile)
c.*1915G>T (n.*1915G>T)
c.2018G>T (p.Arg673Ile)
c.*501G>T (n.*501G>T)
c.*2025G>T (n.*2025G>T)
c.1775G>T (p.Arg592Ile)
c.1402-10458G>T (n.1402-10458G>T)
c.2111G>T (p.Arg704Ile)
c.2291G>T (p.Arg764Ile)
c.1958G>T (p.Arg653Ile)
7g.117592368_117592369delinsGACA1737395000CFTRc.2201_2202delinsGA (p.Arg734=)
c.*1915_*1916delinsGA (n.*1915_*1916delinsGA)
c.2018_2019delinsGA (p.Arg673=)
c.*501_*502delinsGA (n.*501_*502delinsGA)
c.*2025_*2026delinsGA (n.*2025_*2026delinsGA)
c.1775_1776delinsGA (p.Arg592=)
c.1402-10458_1402-10457delinsGA (n.1402-10458_1402-10457delinsGA)
c.2111_2112delinsGA (p.Arg704=)
c.2291_2292delinsGA (p.Arg764=)
c.1958_1959delinsGA (p.Arg653=)
7g.117592369A>CCA368980378CFTRc.2202A>C (p.Arg734Ser)
c.*1916A>C (n.*1916A>C)
c.2019A>C (p.Arg673Ser)
c.*502A>C (n.*502A>C)
c.*2026A>C (n.*2026A>C)
c.1776A>C (p.Arg592Ser)
c.1402-10457A>C (n.1402-10457A>C)
c.2112A>C (p.Arg704Ser)
c.2292A>C (p.Arg764Ser)
c.1959A>C (p.Arg653Ser)
7g.117592369A>GCA457449423CFTRc.2202A>G (p.Arg734=)
c.*1916A>G (n.*1916A>G)
c.2019A>G (p.Arg673=)
c.*502A>G (n.*502A>G)
c.*2026A>G (n.*2026A>G)
c.1776A>G (p.Arg592=)
c.1402-10457A>G (n.1402-10457A>G)
c.2112A>G (p.Arg704=)
c.2292A>G (p.Arg764=)
c.1959A>G (p.Arg653=)
 ClinVar
7g.117592369A>TCA368980380CFTRc.2202A>T (p.Arg734Ser)
c.*1916A>T (n.*1916A>T)
c.2019A>T (p.Arg673Ser)
c.*502A>T (n.*502A>T)
c.*2026A>T (n.*2026A>T)
c.1776A>T (p.Arg592Ser)
c.1402-10457A>T (n.1402-10457A>T)
c.2112A>T (p.Arg704Ser)
c.2292A>T (p.Arg764Ser)
c.1959A>T (p.Arg653Ser)
7g.117592370delCA326767CFTRc.2203del (p.Arg735GlyfsTer4)
c.*1917del (n.*1917del)
c.2020del (p.Arg674GlyfsTer4)
c.*503del (n.*503del)
c.*2027del (n.*2027del)
c.1777del (p.Arg593GlyfsTer4)
c.1402-10456del (n.1402-10456del)
c.2113del (p.Arg705GlyfsTer4)
c.2293del (p.Arg765GlyfsTer4)
c.1960del (p.Arg654GlyfsTer4)
 ClinVar dbSNP
7g.117592370A>CCA457449427CFTRc.2203A>C (p.Arg735=)
c.*1917A>C (n.*1917A>C)
c.2020A>C (p.Arg674=)
c.*503A>C (n.*503A>C)
c.*2027A>C (n.*2027A>C)
c.1777A>C (p.Arg593=)
c.1402-10456A>C (n.1402-10456A>C)
c.2113A>C (p.Arg705=)
c.2293A>C (p.Arg765=)
c.1960A>C (p.Arg654=)
7g.117592370A>GCA368980385CFTRc.2203A>G (p.Arg735Gly)
c.*1917A>G (n.*1917A>G)
c.2020A>G (p.Arg674Gly)
c.*503A>G (n.*503A>G)
c.*2027A>G (n.*2027A>G)
c.1777A>G (p.Arg593Gly)
c.1402-10456A>G (n.1402-10456A>G)
c.2113A>G (p.Arg705Gly)
c.2293A>G (p.Arg765Gly)
c.1960A>G (p.Arg654Gly)
7g.117592370A>TCA368980387CFTRc.2203A>T (p.Arg735Trp)
c.*1917A>T (n.*1917A>T)
c.2020A>T (p.Arg674Trp)
c.*503A>T (n.*503A>T)
c.*2027A>T (n.*2027A>T)
c.1777A>T (p.Arg593Trp)
c.1402-10456A>T (n.1402-10456A>T)
c.2113A>T (p.Arg705Trp)
c.2293A>T (p.Arg765Trp)
c.1960A>T (p.Arg654Trp)
7g.117592370_117592371delCA2684619359CFTRc.2203_2204del (p.Arg735AlafsTer8)
c.*1917_*1918del (n.*1917_*1918del)
c.2020_2021del (p.Arg674AlafsTer8)
c.*503_*504del (n.*503_*504del)
c.*2027_*2028del (n.*2027_*2028del)
c.1777_1778del (p.Arg593AlafsTer8)
c.1402-10456_1402-10455del (n.1402-10456_1402-10455del)
c.2113_2114del (p.Arg705AlafsTer8)
c.2293_2294del (p.Arg765AlafsTer8)
c.1960_1961del (p.Arg654AlafsTer8)
 gnomAD v4
7g.117592371G>ACA326768CFTRc.2204G>A (p.Arg735Lys)
c.*1918G>A (n.*1918G>A)
c.2021G>A (p.Arg674Lys)
c.*504G>A (n.*504G>A)
c.*2028G>A (n.*2028G>A)
c.1778G>A (p.Arg593Lys)
c.1402-10455G>A (n.1402-10455G>A)
c.2114G>A (p.Arg705Lys)
c.2294G>A (p.Arg765Lys)
c.1961G>A (p.Arg654Lys)
 ClinVar dbSNP
7g.117592371G>CCA368980390CFTRc.2204G>C (p.Arg735Thr)
c.*1918G>C (n.*1918G>C)
c.2021G>C (p.Arg674Thr)
c.*504G>C (n.*504G>C)
c.*2028G>C (n.*2028G>C)
c.1778G>C (p.Arg593Thr)
c.1402-10455G>C (n.1402-10455G>C)
c.2114G>C (p.Arg705Thr)
c.2294G>C (p.Arg765Thr)
c.1961G>C (p.Arg654Thr)
7g.117592371G=CA1737395010CFTRc.2204G= (p.Arg735=)
c.*1918G= (n.*1918G=)
c.2021G= (p.Arg674=)
c.*504G= (n.*504G=)
c.*2028G= (n.*2028G=)
c.1778G= (p.Arg593=)
c.1402-10455G= (n.1402-10455G=)
c.2114G= (p.Arg705=)
c.2294G= (p.Arg765=)
c.1961G= (p.Arg654=)
7g.117592371G>TCA368980393CFTRc.2204G>T (p.Arg735Met)
c.*1918G>T (n.*1918G>T)
c.2021G>T (p.Arg674Met)
c.*504G>T (n.*504G>T)
c.*2028G>T (n.*2028G>T)
c.1778G>T (p.Arg593Met)
c.1402-10455G>T (n.1402-10455G>T)
c.2114G>T (p.Arg705Met)
c.2294G>T (p.Arg765Met)
c.1961G>T (p.Arg654Met)
 gnomAD v4
7g.117592372G>ACA457449430CFTRc.2205G>A (p.Arg735=)
c.*1919G>A (n.*1919G>A)
c.2022G>A (p.Arg674=)
c.*505G>A (n.*505G>A)
c.*2029G>A (n.*2029G>A)
c.1779G>A (p.Arg593=)
c.1402-10454G>A (n.1402-10454G>A)
c.2115G>A (p.Arg705=)
c.2295G>A (p.Arg765=)
c.1962G>A (p.Arg654=)
7g.117592372G>CCA368980397CFTRc.2205G>C (p.Arg735Ser)
c.*1919G>C (n.*1919G>C)
c.2022G>C (p.Arg674Ser)
c.*505G>C (n.*505G>C)
c.*2029G>C (n.*2029G>C)
c.1779G>C (p.Arg593Ser)
c.1402-10454G>C (n.1402-10454G>C)
c.2115G>C (p.Arg705Ser)
c.2295G>C (p.Arg765Ser)
c.1962G>C (p.Arg654Ser)
 ClinVar dbSNP
7g.117592372G>TCA368980399CFTRc.2205G>T (p.Arg735Ser)
c.*1919G>T (n.*1919G>T)
c.2022G>T (p.Arg674Ser)
c.*505G>T (n.*505G>T)
c.*2029G>T (n.*2029G>T)
c.1779G>T (p.Arg593Ser)
c.1402-10454G>T (n.1402-10454G>T)
c.2115G>T (p.Arg705Ser)
c.2295G>T (p.Arg765Ser)
c.1962G>T (p.Arg654Ser)
7g.117592373C>ACA368980400CFTRc.2206C>A (p.Leu736Met)
c.*1920C>A (n.*1920C>A)
c.2023C>A (p.Leu675Met)
c.*506C>A (n.*506C>A)
c.*2030C>A (n.*2030C>A)
c.1780C>A (p.Leu594Met)
c.1402-10453C>A (n.1402-10453C>A)
c.2116C>A (p.Leu706Met)
c.2296C>A (p.Leu766Met)
c.1963C>A (p.Leu655Met)
7g.117592373C=CA1737395012CFTRc.2206C= (p.Leu736=)
c.*1920C= (n.*1920C=)
c.2023C= (p.Leu675=)
c.*506C= (n.*506C=)
c.*2030C= (n.*2030C=)
c.1780C= (p.Leu594=)
c.1402-10453C= (n.1402-10453C=)
c.2116C= (p.Leu706=)
c.2296C= (p.Leu766=)
c.1963C= (p.Leu655=)
7g.117592373C>GCA368980402CFTRc.2206C>G (p.Leu736Val)
c.*1920C>G (n.*1920C>G)
c.2023C>G (p.Leu675Val)
c.*506C>G (n.*506C>G)
c.*2030C>G (n.*2030C>G)
c.1780C>G (p.Leu594Val)
c.1402-10453C>G (n.1402-10453C>G)
c.2116C>G (p.Leu706Val)
c.2296C>G (p.Leu766Val)
c.1963C>G (p.Leu655Val)
7g.117592373C>TCA457449433CFTRc.2206C>T (p.Leu736=)
c.*1920C>T (n.*1920C>T)
c.2023C>T (p.Leu675=)
c.*506C>T (n.*506C>T)
c.*2030C>T (n.*2030C>T)
c.1780C>T (p.Leu594=)
c.1402-10453C>T (n.1402-10453C>T)
c.2116C>T (p.Leu706=)
c.2296C>T (p.Leu766=)
c.1963C>T (p.Leu655=)
 dbSNP gnomAD v4
7g.117592374T>ACA368980405CFTRc.2207T>A (p.Leu736Gln)
c.*1921T>A (n.*1921T>A)
c.2024T>A (p.Leu675Gln)
c.*507T>A (n.*507T>A)
c.*2031T>A (n.*2031T>A)
c.1781T>A (p.Leu594Gln)
c.1402-10452T>A (n.1402-10452T>A)
c.2117T>A (p.Leu706Gln)
c.2297T>A (p.Leu766Gln)
c.1964T>A (p.Leu655Gln)
7g.117592374T>CCA368980407CFTRc.2207T>C (p.Leu736Pro)
c.*1921T>C (n.*1921T>C)
c.2024T>C (p.Leu675Pro)
c.*507T>C (n.*507T>C)
c.*2031T>C (n.*2031T>C)
c.1781T>C (p.Leu594Pro)
c.1402-10452T>C (n.1402-10452T>C)
c.2117T>C (p.Leu706Pro)
c.2297T>C (p.Leu766Pro)
c.1964T>C (p.Leu655Pro)
7g.117592374T>GCA368980409CFTRc.2207T>G (p.Leu736Arg)
c.*1921T>G (n.*1921T>G)
c.2024T>G (p.Leu675Arg)
c.*507T>G (n.*507T>G)
c.*2031T>G (n.*2031T>G)
c.1781T>G (p.Leu594Arg)
c.1402-10452T>G (n.1402-10452T>G)
c.2117T>G (p.Leu706Arg)
c.2297T>G (p.Leu766Arg)
c.1964T>G (p.Leu655Arg)
7g.117592375G>ACA457449435CFTRc.2208G>A (p.Leu736=)
c.*1922G>A (n.*1922G>A)
c.2025G>A (p.Leu675=)
c.*508G>A (n.*508G>A)
c.*2032G>A (n.*2032G>A)
c.1782G>A (p.Leu594=)
c.1402-10451G>A (n.1402-10451G>A)
c.2118G>A (p.Leu706=)
c.2298G>A (p.Leu766=)
c.1965G>A (p.Leu655=)
 ClinVar
7g.117592375G>CCA457449438CFTRc.2208G>C (p.Leu736=)
c.*1922G>C (n.*1922G>C)
c.2025G>C (p.Leu675=)
c.*508G>C (n.*508G>C)
c.*2032G>C (n.*2032G>C)
c.1782G>C (p.Leu594=)
c.1402-10451G>C (n.1402-10451G>C)
c.2118G>C (p.Leu706=)
c.2298G>C (p.Leu766=)
c.1965G>C (p.Leu655=)
7g.117592375G>TCA457449441CFTRc.2208G>T (p.Leu736=)
c.*1922G>T (n.*1922G>T)
c.2025G>T (p.Leu675=)
c.*508G>T (n.*508G>T)
c.*2032G>T (n.*2032G>T)
c.1782G>T (p.Leu594=)
c.1402-10451G>T (n.1402-10451G>T)
c.2118G>T (p.Leu706=)
c.2298G>T (p.Leu766=)
c.1965G>T (p.Leu655=)
7g.117592375_117592376insCCA2695208513CFTRc.2208_2209insC (p.Ser737LeufsTer7)
c.*1922_*1923insC (n.*1922_*1923insC)
c.2025_2026insC (p.Ser676LeufsTer7)
c.*508_*509insC (n.*508_*509insC)
c.*2032_*2033insC (n.*2032_*2033insC)
c.1782_1783insC (p.Ser595LeufsTer7)
c.1402-10451_1402-10450insC (n.1402-10451_1402-10450insC)
c.2118_2119insC (p.Ser707LeufsTer7)
c.2298_2299insC (p.Ser767LeufsTer7)
c.1965_1966insC (p.Ser656LeufsTer7)
7g.117592376T>ACA4451153CFTRc.2209T>A (p.Ser737Thr)
c.*1923T>A (n.*1923T>A)
c.2026T>A (p.Ser676Thr)
c.*509T>A (n.*509T>A)
c.*2033T>A (n.*2033T>A)
c.1783T>A (p.Ser595Thr)
c.1402-10450T>A (n.1402-10450T>A)
c.2119T>A (p.Ser707Thr)
c.2299T>A (p.Ser767Thr)
c.1966T>A (p.Ser656Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.117592376T>CCA368980413CFTRc.2209T>C (p.Ser737Pro)
c.*1923T>C (n.*1923T>C)
c.2026T>C (p.Ser676Pro)
c.*509T>C (n.*509T>C)
c.*2033T>C (n.*2033T>C)
c.1783T>C (p.Ser595Pro)
c.1402-10450T>C (n.1402-10450T>C)
c.2119T>C (p.Ser707Pro)
c.2299T>C (p.Ser767Pro)
c.1966T>C (p.Ser656Pro)
7g.117592376T>GCA368980416CFTRc.2209T>G (p.Ser737Ala)
c.*1923T>G (n.*1923T>G)
c.2026T>G (p.Ser676Ala)
c.*509T>G (n.*509T>G)
c.*2033T>G (n.*2033T>G)
c.1783T>G (p.Ser595Ala)
c.1402-10450T>G (n.1402-10450T>G)
c.2119T>G (p.Ser707Ala)
c.2299T>G (p.Ser767Ala)
c.1966T>G (p.Ser656Ala)
7g.117592376T=CA1737395016CFTRc.2209T= (p.Ser737=)
c.*1923T= (n.*1923T=)
c.2026T= (p.Ser676=)
c.*509T= (n.*509T=)
c.*2033T= (n.*2033T=)
c.1783T= (p.Ser595=)
c.1402-10450T= (n.1402-10450T=)
c.2119T= (p.Ser707=)
c.2299T= (p.Ser767=)
c.1966T= (p.Ser656=)
7g.117592377C>ACA368980418CFTRc.2210C>A (p.Ser737Tyr)
c.*1924C>A (n.*1924C>A)
c.2027C>A (p.Ser676Tyr)
c.*510C>A (n.*510C>A)
c.*2034C>A (n.*2034C>A)
c.1784C>A (p.Ser595Tyr)
c.1402-10449C>A (n.1402-10449C>A)
c.2120C>A (p.Ser707Tyr)
c.2300C>A (p.Ser767Tyr)
c.1967C>A (p.Ser656Tyr)
7g.117592377C=CA1737395019CFTRc.2210C= (p.Ser737=)
c.*1924C= (n.*1924C=)
c.2027C= (p.Ser676=)
c.*510C= (n.*510C=)
c.*2034C= (n.*2034C=)
c.1784C= (p.Ser595=)
c.1402-10449C= (n.1402-10449C=)
c.2120C= (p.Ser707=)
c.2300C= (p.Ser767=)
c.1967C= (p.Ser656=)
7g.117592377C>GCA368980420CFTRc.2210C>G (p.Ser737Cys)
c.*1924C>G (n.*1924C>G)
c.2027C>G (p.Ser676Cys)
c.*510C>G (n.*510C>G)
c.*2034C>G (n.*2034C>G)
c.1784C>G (p.Ser595Cys)
c.1402-10449C>G (n.1402-10449C>G)
c.2120C>G (p.Ser707Cys)
c.2300C>G (p.Ser767Cys)
c.1967C>G (p.Ser656Cys)
7g.117592377C>TCA326770CFTRc.2210C>T (p.Ser737Phe)
c.*1924C>T (n.*1924C>T)
c.2027C>T (p.Ser676Phe)
c.*510C>T (n.*510C>T)
c.*2034C>T (n.*2034C>T)
c.1784C>T (p.Ser595Phe)
c.1402-10449C>T (n.1402-10449C>T)
c.2120C>T (p.Ser707Phe)
c.2300C>T (p.Ser767Phe)
c.1967C>T (p.Ser656Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117592378C>ACA457449446CFTRc.2211C>A (p.Ser737=)
c.*1925C>A (n.*1925C>A)
c.2028C>A (p.Ser676=)
c.*511C>A (n.*511C>A)
c.*2035C>A (n.*2035C>A)
c.1785C>A (p.Ser595=)
c.1402-10448C>A (n.1402-10448C>A)
c.2121C>A (p.Ser707=)
c.2301C>A (p.Ser767=)
c.1968C>A (p.Ser656=)
7g.117592378C>GCA457449447CFTRc.2211C>G (p.Ser737=)
c.*1925C>G (n.*1925C>G)
c.2028C>G (p.Ser676=)
c.*511C>G (n.*511C>G)
c.*2035C>G (n.*2035C>G)
c.1785C>G (p.Ser595=)
c.1402-10448C>G (n.1402-10448C>G)
c.2121C>G (p.Ser707=)
c.2301C>G (p.Ser767=)
c.1968C>G (p.Ser656=)
7g.117592378C>TCA457449448CFTRc.2211C>T (p.Ser737=)
c.*1925C>T (n.*1925C>T)
c.2028C>T (p.Ser676=)
c.*511C>T (n.*511C>T)
c.*2035C>T (n.*2035C>T)
c.1785C>T (p.Ser595=)
c.1402-10448C>T (n.1402-10448C>T)
c.2121C>T (p.Ser707=)
c.2301C>T (p.Ser767=)
c.1968C>T (p.Ser656=)
 ClinVar
7g.117592379T>ACA368980423CFTRc.2212T>A (p.Leu738Ile)
c.*1926T>A (n.*1926T>A)
c.2029T>A (p.Leu677Ile)
c.*512T>A (n.*512T>A)
c.*2036T>A (n.*2036T>A)
c.1786T>A (p.Leu596Ile)
c.1402-10447T>A (n.1402-10447T>A)
c.2122T>A (p.Leu708Ile)
c.2302T>A (p.Leu768Ile)
c.1969T>A (p.Leu657Ile)
7g.117592379T>CCA457449451CFTRc.2212T>C (p.Leu738=)
c.*1926T>C (n.*1926T>C)
c.2029T>C (p.Leu677=)
c.*512T>C (n.*512T>C)
c.*2036T>C (n.*2036T>C)
c.1786T>C (p.Leu596=)
c.1402-10447T>C (n.1402-10447T>C)
c.2122T>C (p.Leu708=)
c.2302T>C (p.Leu768=)
c.1969T>C (p.Leu657=)
7g.117592379T>GCA368980426CFTRc.2212T>G (p.Leu738Val)
c.*1926T>G (n.*1926T>G)
c.2029T>G (p.Leu677Val)
c.*512T>G (n.*512T>G)
c.*2036T>G (n.*2036T>G)
c.1786T>G (p.Leu596Val)
c.1402-10447T>G (n.1402-10447T>G)
c.2122T>G (p.Leu708Val)
c.2302T>G (p.Leu768Val)
c.1969T>G (p.Leu657Val)
 ClinVar dbSNP gnomAD v4
7g.117592380T>ACA368980432CFTRc.2213T>A (p.Leu738Ter)
c.*1927T>A (n.*1927T>A)
c.2030T>A (p.Leu677Ter)
c.*513T>A (n.*513T>A)
c.*2037T>A (n.*2037T>A)
c.1787T>A (p.Leu596Ter)
c.1402-10446T>A (n.1402-10446T>A)
c.2123T>A (p.Leu708Ter)
c.2303T>A (p.Leu768Ter)
c.1970T>A (p.Leu657Ter)
7g.117592380T>CCA368980428CFTRc.2213T>C (p.Leu738Ser)
c.*1927T>C (n.*1927T>C)
c.2030T>C (p.Leu677Ser)
c.*513T>C (n.*513T>C)
c.*2037T>C (n.*2037T>C)
c.1787T>C (p.Leu596Ser)
c.1402-10446T>C (n.1402-10446T>C)
c.2123T>C (p.Leu708Ser)
c.2303T>C (p.Leu768Ser)
c.1970T>C (p.Leu657Ser)
7g.117592380T>GCA368980429CFTRc.2213T>G (p.Leu738Ter)
c.*1927T>G (n.*1927T>G)
c.2030T>G (p.Leu677Ter)
c.*513T>G (n.*513T>G)
c.*2037T>G (n.*2037T>G)
c.1787T>G (p.Leu596Ter)
c.1402-10446T>G (n.1402-10446T>G)
c.2123T>G (p.Leu708Ter)
c.2303T>G (p.Leu768Ter)
c.1970T>G (p.Leu657Ter)
 ClinVar
7g.117592381A=CA1737395023CFTRc.2214A= (p.Leu738=)
c.*1928A= (n.*1928A=)
c.2031A= (p.Leu677=)
c.*514A= (n.*514A=)
c.*2038A= (n.*2038A=)
c.1788A= (p.Leu596=)
c.1402-10445A= (n.1402-10445A=)
c.2124A= (p.Leu708=)
c.2304A= (p.Leu768=)
c.1971A= (p.Leu657=)
7g.117592381A>CCA368980434CFTRc.2214A>C (p.Leu738Phe)
c.*1928A>C (n.*1928A>C)
c.2031A>C (p.Leu677Phe)
c.*514A>C (n.*514A>C)
c.*2038A>C (n.*2038A>C)
c.1788A>C (p.Leu596Phe)
c.1402-10445A>C (n.1402-10445A>C)
c.2124A>C (p.Leu708Phe)
c.2304A>C (p.Leu768Phe)
c.1971A>C (p.Leu657Phe)
 dbSNP
7g.117592381A>GCA457449456CFTRc.2214A>G (p.Leu738=)
c.*1928A>G (n.*1928A>G)
c.2031A>G (p.Leu677=)
c.*514A>G (n.*514A>G)
c.*2038A>G (n.*2038A>G)
c.1788A>G (p.Leu596=)
c.1402-10445A>G (n.1402-10445A>G)
c.2124A>G (p.Leu708=)
c.2304A>G (p.Leu768=)
c.1971A>G (p.Leu657=)
7g.117592381A>TCA368980436CFTRc.2214A>T (p.Leu738Phe)
c.*1928A>T (n.*1928A>T)
c.2031A>T (p.Leu677Phe)
c.*514A>T (n.*514A>T)
c.*2038A>T (n.*2038A>T)
c.1788A>T (p.Leu596Phe)
c.1402-10445A>T (n.1402-10445A>T)
c.2124A>T (p.Leu708Phe)
c.2304A>T (p.Leu768Phe)
c.1971A>T (p.Leu657Phe)
 gnomAD v4
7g.117592381_117592382delinsAGCA1737395021CFTRc.2214_2215delinsAG (p.Leu738=)
c.*1928_*1929delinsAG (n.*1928_*1929delinsAG)
c.2031_2032delinsAG (p.Leu677=)
c.*514_*515delinsAG (n.*514_*515delinsAG)
c.*2038_*2039delinsAG (n.*2038_*2039delinsAG)
c.1788_1789delinsAG (p.Leu596=)
c.1402-10445_1402-10444delinsAG (n.1402-10445_1402-10444delinsAG)
c.2124_2125delinsAG (p.Leu708=)
c.2304_2305delinsAG (p.Leu768=)
c.1971_1972delinsAG (p.Leu657=)
7g.117592382delCA328097CFTRc.2215del (p.Val739TyrfsTer16)
c.*1929del (n.*1929del)
c.2032del (p.Val678TyrfsTer16)
c.*515del (n.*515del)
c.*2039del (n.*2039del)
c.1789del (p.Val597TyrfsTer16)
c.1402-10444del (n.1402-10444del)
c.2125del (p.Val709TyrfsTer16)
c.2305del (p.Val769TyrfsTer16)
c.1972del (p.Val658TyrfsTer16)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.117592382G>ACA4451154CFTRc.2215G>A (p.Val739Ile)
c.*1929G>A (n.*1929G>A)
c.2032G>A (p.Val678Ile)
c.*515G>A (n.*515G>A)
c.*2039G>A (n.*2039G>A)
c.1789G>A (p.Val597Ile)
c.1402-10444G>A (n.1402-10444G>A)
c.2125G>A (p.Val709Ile)
c.2305G>A (p.Val769Ile)
c.1972G>A (p.Val658Ile)
 dbSNP ExAC gnomAD v3 gnomAD v4
7g.117592382G>CCA368980440CFTRc.2215G>C (p.Val739Leu)
c.*1929G>C (n.*1929G>C)
c.2032G>C (p.Val678Leu)
c.*515G>C (n.*515G>C)
c.*2039G>C (n.*2039G>C)
c.1789G>C (p.Val597Leu)
c.1402-10444G>C (n.1402-10444G>C)
c.2125G>C (p.Val709Leu)
c.2305G>C (p.Val769Leu)
c.1972G>C (p.Val658Leu)
 gnomAD v4
7g.117592382G=CA1737395030CFTRc.2215G= (p.Val739=)
c.*1929G= (n.*1929G=)
c.2032G= (p.Val678=)
c.*515G= (n.*515G=)
c.*2039G= (n.*2039G=)
c.1789G= (p.Val597=)
c.1402-10444G= (n.1402-10444G=)
c.2125G= (p.Val709=)
c.2305G= (p.Val769=)
c.1972G= (p.Val658=)
7g.117592382G>TCA368980442CFTRc.2215G>T (p.Val739Leu)
c.*1929G>T (n.*1929G>T)
c.2032G>T (p.Val678Leu)
c.*515G>T (n.*515G>T)
c.*2039G>T (n.*2039G>T)
c.1789G>T (p.Val597Leu)
c.1402-10444G>T (n.1402-10444G>T)
c.2125G>T (p.Val709Leu)
c.2305G>T (p.Val769Leu)
c.1972G>T (p.Val658Leu)
7g.117592383T>ACA368980446CFTRc.2216T>A (p.Val739Glu)
c.*1930T>A (n.*1930T>A)
c.2033T>A (p.Val678Glu)
c.*516T>A (n.*516T>A)
c.*2040T>A (n.*2040T>A)
c.1790T>A (p.Val597Glu)
c.1402-10443T>A (n.1402-10443T>A)
c.2126T>A (p.Val709Glu)
c.2306T>A (p.Val769Glu)
c.1973T>A (p.Val658Glu)
7g.117592383T>CCA368980448CFTRc.2216T>C (p.Val739Ala)
c.*1930T>C (n.*1930T>C)
c.2033T>C (p.Val678Ala)
c.*516T>C (n.*516T>C)
c.*2040T>C (n.*2040T>C)
c.1790T>C (p.Val597Ala)
c.1402-10443T>C (n.1402-10443T>C)
c.2126T>C (p.Val709Ala)
c.2306T>C (p.Val769Ala)
c.1973T>C (p.Val658Ala)
 gnomAD v4
7g.117592383T>GCA368980451CFTRc.2216T>G (p.Val739Gly)
c.*1930T>G (n.*1930T>G)
c.2033T>G (p.Val678Gly)
c.*516T>G (n.*516T>G)
c.*2040T>G (n.*2040T>G)
c.1790T>G (p.Val597Gly)
c.1402-10443T>G (n.1402-10443T>G)
c.2126T>G (p.Val709Gly)
c.2306T>G (p.Val769Gly)
c.1973T>G (p.Val658Gly)
 gnomAD v4
7g.117592384A>CCA457449464CFTRc.2217A>C (p.Val739=)
c.*1931A>C (n.*1931A>C)
c.2034A>C (p.Val678=)
c.*517A>C (n.*517A>C)
c.*2041A>C (n.*2041A>C)
c.1791A>C (p.Val597=)
c.1402-10442A>C (n.1402-10442A>C)
c.2127A>C (p.Val709=)
c.2307A>C (p.Val769=)
c.1974A>C (p.Val658=)
7g.117592384A>GCA457449465CFTRc.2217A>G (p.Val739=)
c.*1931A>G (n.*1931A>G)
c.2034A>G (p.Val678=)
c.*517A>G (n.*517A>G)
c.*2041A>G (n.*2041A>G)
c.1791A>G (p.Val597=)
c.1402-10442A>G (n.1402-10442A>G)
c.2127A>G (p.Val709=)
c.2307A>G (p.Val769=)
c.1974A>G (p.Val658=)
 ClinVar
7g.117592384A>TCA457449466CFTRc.2217A>T (p.Val739=)
c.*1931A>T (n.*1931A>T)
c.2034A>T (p.Val678=)
c.*517A>T (n.*517A>T)
c.*2041A>T (n.*2041A>T)
c.1791A>T (p.Val597=)
c.1402-10442A>T (n.1402-10442A>T)
c.2127A>T (p.Val709=)
c.2307A>T (p.Val769=)
c.1974A>T (p.Val658=)
7g.117592385C>ACA368980454CFTRc.2218C>A (p.Pro740Thr)
c.*1932C>A (n.*1932C>A)
c.2035C>A (p.Pro679Thr)
c.*518C>A (n.*518C>A)
c.*2042C>A (n.*2042C>A)
c.1792C>A (p.Pro598Thr)
c.1402-10441C>A (n.1402-10441C>A)
c.2128C>A (p.Pro710Thr)
c.2308C>A (p.Pro770Thr)
c.1975C>A (p.Pro659Thr)
7g.117592385C>GCA368980456CFTRc.2218C>G (p.Pro740Ala)
c.*1932C>G (n.*1932C>G)
c.2035C>G (p.Pro679Ala)
c.*518C>G (n.*518C>G)
c.*2042C>G (n.*2042C>G)
c.1792C>G (p.Pro598Ala)
c.1402-10441C>G (n.1402-10441C>G)
c.2128C>G (p.Pro710Ala)
c.2308C>G (p.Pro770Ala)
c.1975C>G (p.Pro659Ala)
7g.117592385C>TCA368980459CFTRc.2218C>T (p.Pro740Ser)
c.*1932C>T (n.*1932C>T)
c.2035C>T (p.Pro679Ser)
c.*518C>T (n.*518C>T)
c.*2042C>T (n.*2042C>T)
c.1792C>T (p.Pro598Ser)
c.1402-10441C>T (n.1402-10441C>T)
c.2128C>T (p.Pro710Ser)
c.2308C>T (p.Pro770Ser)
c.1975C>T (p.Pro659Ser)
7g.117592385_117592386insAATGGAAAATTTTCA2507749182CFTRc.2218_2219insAATGGAAAATTTT (p.Pro740GlnfsTer8)
c.*1932_*1933insAATGGAAAATTTT (n.*1932_*1933insAATGGAAAATTTT)
c.2035_2036insAATGGAAAATTTT (p.Pro679GlnfsTer8)
c.*518_*519insAATGGAAAATTTT (n.*518_*519insAATGGAAAATTTT)
c.*2042_*2043insAATGGAAAATTTT (n.*2042_*2043insAATGGAAAATTTT)
c.1792_1793insAATGGAAAATTTT (p.Pro598GlnfsTer8)
c.1402-10441_1402-10440insAATGGAAAATTTT (n.1402-10441_1402-10440insAATGGAAAATTTT)
c.2128_2129insAATGGAAAATTTT (p.Pro710GlnfsTer8)
c.2308_2309insAATGGAAAATTTT (p.Pro770GlnfsTer8)
c.1975_1976insAATGGAAAATTTT (p.Pro659GlnfsTer8)
7g.117592386C>ACA368980466CFTRc.2219C>A (p.Pro740Gln)
c.*1933C>A (n.*1933C>A)
c.2036C>A (p.Pro679Gln)
c.*519C>A (n.*519C>A)
c.*2043C>A (n.*2043C>A)
c.1793C>A (p.Pro598Gln)
c.1402-10440C>A (n.1402-10440C>A)
c.2129C>A (p.Pro710Gln)
c.2309C>A (p.Pro770Gln)
c.1976C>A (p.Pro659Gln)
 dbSNP
7g.117592386C=CA1737395036CFTRc.2219C= (p.Pro740=)
c.*1933C= (n.*1933C=)
c.2036C= (p.Pro679=)
c.*519C= (n.*519C=)
c.*2043C= (n.*2043C=)
c.1793C= (p.Pro598=)
c.1402-10440C= (n.1402-10440C=)
c.2129C= (p.Pro710=)
c.2309C= (p.Pro770=)
c.1976C= (p.Pro659=)
7g.117592386C>GCA368980464CFTRc.2219C>G (p.Pro740Arg)
c.*1933C>G (n.*1933C>G)
c.2036C>G (p.Pro679Arg)
c.*519C>G (n.*519C>G)
c.*2043C>G (n.*2043C>G)
c.1793C>G (p.Pro598Arg)
c.1402-10440C>G (n.1402-10440C>G)
c.2129C>G (p.Pro710Arg)
c.2309C>G (p.Pro770Arg)
c.1976C>G (p.Pro659Arg)
 gnomAD v4
7g.117592386C>TCA4451155CFTRc.2219C>T (p.Pro740Leu)
c.*1933C>T (n.*1933C>T)
c.2036C>T (p.Pro679Leu)
c.*519C>T (n.*519C>T)
c.*2043C>T (n.*2043C>T)
c.1793C>T (p.Pro598Leu)
c.1402-10440C>T (n.1402-10440C>T)
c.2129C>T (p.Pro710Leu)
c.2309C>T (p.Pro770Leu)
c.1976C>T (p.Pro659Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117592386_117592387insGTATAGAGTTGATTGGATTGCA2570260356CFTRc.2219_2220insGTATAGAGTTGATTGGATTG (p.Asp741TyrfsTer21)
c.*1933_*1934insGTATAGAGTTGATTGGATTG (n.*1933_*1934insGTATAGAGTTGATTGGATTG)
c.2036_2037insGTATAGAGTTGATTGGATTG (p.Asp680TyrfsTer21)
c.*519_*520insGTATAGAGTTGATTGGATTG (n.*519_*520insGTATAGAGTTGATTGGATTG)
c.*2043_*2044insGTATAGAGTTGATTGGATTG (n.*2043_*2044insGTATAGAGTTGATTGGATTG)
c.1793_1794insGTATAGAGTTGATTGGATTG (p.Asp599TyrfsTer21)
c.1402-10440_1402-10439insGTATAGAGTTGATTGGATTG (n.1402-10440_1402-10439insGTATAGAGTTGATTGGATTG)
c.2129_2130insGTATAGAGTTGATTGGATTG (p.Asp711TyrfsTer21)
c.2309_2310insGTATAGAGTTGATTGGATTG (p.Asp771TyrfsTer21)
c.1976_1977insGTATAGAGTTGATTGGATTG (p.Asp660TyrfsTer21)
7g.117592387A=CA1737395043CFTRc.2220A= (p.Pro740=)
c.*1934A= (n.*1934A=)
c.2037A= (p.Pro679=)
c.*520A= (n.*520A=)
c.*2044A= (n.*2044A=)
c.1794A= (p.Pro598=)
c.1402-10439A= (n.1402-10439A=)
c.2130A= (p.Pro710=)
c.2310A= (p.Pro770=)
c.1977A= (p.Pro659=)
7g.117592387A>CCA457449471CFTRc.2220A>C (p.Pro740=)
c.*1934A>C (n.*1934A>C)
c.2037A>C (p.Pro679=)
c.*520A>C (n.*520A>C)
c.*2044A>C (n.*2044A>C)
c.1794A>C (p.Pro598=)
c.1402-10439A>C (n.1402-10439A>C)
c.2130A>C (p.Pro710=)
c.2310A>C (p.Pro770=)
c.1977A>C (p.Pro659=)
7g.117592387A>GCA457449473CFTRc.2220A>G (p.Pro740=)
c.*1934A>G (n.*1934A>G)
c.2037A>G (p.Pro679=)
c.*520A>G (n.*520A>G)
c.*2044A>G (n.*2044A>G)
c.1794A>G (p.Pro598=)
c.1402-10439A>G (n.1402-10439A>G)
c.2130A>G (p.Pro710=)
c.2310A>G (p.Pro770=)
c.1977A>G (p.Pro659=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
7g.117592387A>TCA457449472CFTRc.2220A>T (p.Pro740=)
c.*1934A>T (n.*1934A>T)
c.2037A>T (p.Pro679=)
c.*520A>T (n.*520A>T)
c.*2044A>T (n.*2044A>T)
c.1794A>T (p.Pro598=)
c.1402-10439A>T (n.1402-10439A>T)
c.2130A>T (p.Pro710=)
c.2310A>T (p.Pro770=)
c.1977A>T (p.Pro659=)
7g.117592388G>ACA368980468CFTRc.2221G>A (p.Asp741Asn)
c.*1935G>A (n.*1935G>A)
c.2038G>A (p.Asp680Asn)
c.*521G>A (n.*521G>A)
c.*2045G>A (n.*2045G>A)
c.1795G>A (p.Asp599Asn)
c.1402-10438G>A (n.1402-10438G>A)
c.2131G>A (p.Asp711Asn)
c.2311G>A (p.Asp771Asn)
c.1978G>A (p.Asp660Asn)
7g.117592388G>CCA368980467CFTRc.2221G>C (p.Asp741His)
c.*1935G>C (n.*1935G>C)
c.2038G>C (p.Asp680His)
c.*521G>C (n.*521G>C)
c.*2045G>C (n.*2045G>C)
c.1795G>C (p.Asp599His)
c.1402-10438G>C (n.1402-10438G>C)
c.2131G>C (p.Asp711His)
c.2311G>C (p.Asp771His)
c.1978G>C (p.Asp660His)
7g.117592388G>TCA368980470CFTRc.2221G>T (p.Asp741Tyr)
c.*1935G>T (n.*1935G>T)
c.2038G>T (p.Asp680Tyr)
c.*521G>T (n.*521G>T)
c.*2045G>T (n.*2045G>T)
c.1795G>T (p.Asp599Tyr)
c.1402-10438G>T (n.1402-10438G>T)
c.2131G>T (p.Asp711Tyr)
c.2311G>T (p.Asp771Tyr)
c.1978G>T (p.Asp660Tyr)
 gnomAD v4
7g.117592389A>CCA368980473CFTRc.2222A>C (p.Asp741Ala)
c.*1936A>C (n.*1936A>C)
c.2039A>C (p.Asp680Ala)
c.*522A>C (n.*522A>C)
c.*2046A>C (n.*2046A>C)
c.1796A>C (p.Asp599Ala)
c.1402-10437A>C (n.1402-10437A>C)
c.2132A>C (p.Asp711Ala)
c.2312A>C (p.Asp771Ala)
c.1979A>C (p.Asp660Ala)
7g.117592389A>GCA368980474CFTRc.2222A>G (p.Asp741Gly)
c.*1936A>G (n.*1936A>G)
c.2039A>G (p.Asp680Gly)
c.*522A>G (n.*522A>G)
c.*2046A>G (n.*2046A>G)
c.1796A>G (p.Asp599Gly)
c.1402-10437A>G (n.1402-10437A>G)
c.2132A>G (p.Asp711Gly)
c.2312A>G (p.Asp771Gly)
c.1979A>G (p.Asp660Gly)
7g.117592389A>TCA368980477CFTRc.2222A>T (p.Asp741Val)
c.*1936A>T (n.*1936A>T)
c.2039A>T (p.Asp680Val)
c.*522A>T (n.*522A>T)
c.*2046A>T (n.*2046A>T)
c.1796A>T (p.Asp599Val)
c.1402-10437A>T (n.1402-10437A>T)
c.2132A>T (p.Asp711Val)
c.2312A>T (p.Asp771Val)
c.1979A>T (p.Asp660Val)
7g.117592390T>ACA368980479CFTRc.2223T>A (p.Asp741Glu)
c.*1937T>A (n.*1937T>A)
c.2040T>A (p.Asp680Glu)
c.*523T>A (n.*523T>A)
c.*2047T>A (n.*2047T>A)
c.1797T>A (p.Asp599Glu)
c.1402-10436T>A (n.1402-10436T>A)
c.2133T>A (p.Asp711Glu)
c.2313T>A (p.Asp771Glu)
c.1980T>A (p.Asp660Glu)
7g.117592390T>CCA457449481CFTRc.2223T>C (p.Asp741=)
c.*1937T>C (n.*1937T>C)
c.2040T>C (p.Asp680=)
c.*523T>C (n.*523T>C)
c.*2047T>C (n.*2047T>C)
c.1797T>C (p.Asp599=)
c.1402-10436T>C (n.1402-10436T>C)
c.2133T>C (p.Asp711=)
c.2313T>C (p.Asp771=)
c.1980T>C (p.Asp660=)
 gnomAD v4
7g.117592390T>GCA368980480CFTRc.2223T>G (p.Asp741Glu)
c.*1937T>G (n.*1937T>G)
c.2040T>G (p.Asp680Glu)
c.*523T>G (n.*523T>G)
c.*2047T>G (n.*2047T>G)
c.1797T>G (p.Asp599Glu)
c.1402-10436T>G (n.1402-10436T>G)
c.2133T>G (p.Asp711Glu)
c.2313T>G (p.Asp771Glu)
c.1980T>G (p.Asp660Glu)
7g.117592391T>ACA368980485CFTRc.2224T>A (p.Ser742Thr)
c.*1938T>A (n.*1938T>A)
c.2041T>A (p.Ser681Thr)
c.*524T>A (n.*524T>A)
c.*2048T>A (n.*2048T>A)
c.1798T>A (p.Ser600Thr)
c.1402-10435T>A (n.1402-10435T>A)
c.2134T>A (p.Ser712Thr)
c.2314T>A (p.Ser772Thr)
c.1981T>A (p.Ser661Thr)
7g.117592391T>CCA368980482CFTRc.2224T>C (p.Ser742Pro)
c.*1938T>C (n.*1938T>C)
c.2041T>C (p.Ser681Pro)
c.*524T>C (n.*524T>C)
c.*2048T>C (n.*2048T>C)
c.1798T>C (p.Ser600Pro)
c.1402-10435T>C (n.1402-10435T>C)
c.2134T>C (p.Ser712Pro)
c.2314T>C (p.Ser772Pro)
c.1981T>C (p.Ser661Pro)
7g.117592391T>GCA368980481CFTRc.2224T>G (p.Ser742Ala)
c.*1938T>G (n.*1938T>G)
c.2041T>G (p.Ser681Ala)
c.*524T>G (n.*524T>G)
c.*2048T>G (n.*2048T>G)
c.1798T>G (p.Ser600Ala)
c.1402-10435T>G (n.1402-10435T>G)
c.2134T>G (p.Ser712Ala)
c.2314T>G (p.Ser772Ala)
c.1981T>G (p.Ser661Ala)
7g.117592392C>ACA368980489CFTRc.2225C>A (p.Ser742Tyr)
c.*1939C>A (n.*1939C>A)
c.2042C>A (p.Ser681Tyr)
c.*525C>A (n.*525C>A)
c.*2049C>A (n.*2049C>A)
c.1799C>A (p.Ser600Tyr)
c.1402-10434C>A (n.1402-10434C>A)
c.2135C>A (p.Ser712Tyr)
c.2315C>A (p.Ser772Tyr)
c.1982C>A (p.Ser661Tyr)
7g.117592392C=CA1737395046CFTRc.2225C= (p.Ser742=)
c.*1939C= (n.*1939C=)
c.2042C= (p.Ser681=)
c.*525C= (n.*525C=)
c.*2049C= (n.*2049C=)
c.1799C= (p.Ser600=)
c.1402-10434C= (n.1402-10434C=)
c.2135C= (p.Ser712=)
c.2315C= (p.Ser772=)
c.1982C= (p.Ser661=)
7g.117592392C>GCA368980491CFTRc.2225C>G (p.Ser742Cys)
c.*1939C>G (n.*1939C>G)
c.2042C>G (p.Ser681Cys)
c.*525C>G (n.*525C>G)
c.*2049C>G (n.*2049C>G)
c.1799C>G (p.Ser600Cys)
c.1402-10434C>G (n.1402-10434C>G)
c.2135C>G (p.Ser712Cys)
c.2315C>G (p.Ser772Cys)
c.1982C>G (p.Ser661Cys)
7g.117592392C>TCA368980492CFTRc.2225C>T (p.Ser742Phe)
c.*1939C>T (n.*1939C>T)
c.2042C>T (p.Ser681Phe)
c.*525C>T (n.*525C>T)
c.*2049C>T (n.*2049C>T)
c.1799C>T (p.Ser600Phe)
c.1402-10434C>T (n.1402-10434C>T)
c.2135C>T (p.Ser712Phe)
c.2315C>T (p.Ser772Phe)
c.1982C>T (p.Ser661Phe)
 ClinVar dbSNP gnomAD v4
7g.117592393T>ACA457449485CFTRc.2226T>A (p.Ser742=)
c.*1940T>A (n.*1940T>A)
c.2043T>A (p.Ser681=)
c.*526T>A (n.*526T>A)
c.*2050T>A (n.*2050T>A)
c.1800T>A (p.Ser600=)
c.1402-10433T>A (n.1402-10433T>A)
c.2136T>A (p.Ser712=)
c.2316T>A (p.Ser772=)
c.1983T>A (p.Ser661=)
7g.117592393T>CCA457449486CFTRc.2226T>C (p.Ser742=)
c.*1940T>C (n.*1940T>C)
c.2043T>C (p.Ser681=)
c.*526T>C (n.*526T>C)
c.*2050T>C (n.*2050T>C)
c.1800T>C (p.Ser600=)
c.1402-10433T>C (n.1402-10433T>C)
c.2136T>C (p.Ser712=)
c.2316T>C (p.Ser772=)
c.1983T>C (p.Ser661=)
 ClinVar dbSNP gnomAD v4
7g.117592393T>GCA457449487CFTRc.2226T>G (p.Ser742=)
c.*1940T>G (n.*1940T>G)
c.2043T>G (p.Ser681=)
c.*526T>G (n.*526T>G)
c.*2050T>G (n.*2050T>G)
c.1800T>G (p.Ser600=)
c.1402-10433T>G (n.1402-10433T>G)
c.2136T>G (p.Ser712=)
c.2316T>G (p.Ser772=)
c.1983T>G (p.Ser661=)
7g.117592394G>ACA164948004CFTRc.2227G>A (p.Glu743Lys)
c.*1941G>A (n.*1941G>A)
c.2044G>A (p.Glu682Lys)
c.*527G>A (n.*527G>A)
c.*2051G>A (n.*2051G>A)
c.1801G>A (p.Glu601Lys)
c.1402-10432G>A (n.1402-10432G>A)
c.2137G>A (p.Glu713Lys)
c.2317G>A (p.Glu773Lys)
c.1984G>A (p.Glu662Lys)
 dbSNP COSMIC
7g.117592394G>CCA368980494CFTRc.2227G>C (p.Glu743Gln)
c.*1941G>C (n.*1941G>C)
c.2044G>C (p.Glu682Gln)
c.*527G>C (n.*527G>C)
c.*2051G>C (n.*2051G>C)
c.1801G>C (p.Glu601Gln)
c.1402-10432G>C (n.1402-10432G>C)
c.2137G>C (p.Glu713Gln)
c.2317G>C (p.Glu773Gln)
c.1984G>C (p.Glu662Gln)
 gnomAD v4
7g.117592394G=CA1737395050CFTRc.2227G= (p.Glu743=)
c.*1941G= (n.*1941G=)
c.2044G= (p.Glu682=)
c.*527G= (n.*527G=)
c.*2051G= (n.*2051G=)
c.1801G= (p.Glu601=)
c.1402-10432G= (n.1402-10432G=)
c.2137G= (p.Glu713=)
c.2317G= (p.Glu773=)
c.1984G= (p.Glu662=)
7g.117592394G>TCA368980496CFTRc.2227G>T (p.Glu743Ter)
c.*1941G>T (n.*1941G>T)
c.2044G>T (p.Glu682Ter)
c.*527G>T (n.*527G>T)
c.*2051G>T (n.*2051G>T)
c.1801G>T (p.Glu601Ter)
c.1402-10432G>T (n.1402-10432G>T)
c.2137G>T (p.Glu713Ter)
c.2317G>T (p.Glu773Ter)
c.1984G>T (p.Glu662Ter)
7g.117592395A>CCA368980506CFTRc.2228A>C (p.Glu743Ala)
c.*1942A>C (n.*1942A>C)
c.2045A>C (p.Glu682Ala)
c.*528A>C (n.*528A>C)
c.*2052A>C (n.*2052A>C)
c.1802A>C (p.Glu601Ala)
c.1402-10431A>C (n.1402-10431A>C)
c.2138A>C (p.Glu713Ala)
c.2318A>C (p.Glu773Ala)
c.1985A>C (p.Glu662Ala)
7g.117592395A>GCA368980501CFTRc.2228A>G (p.Glu743Gly)
c.*1942A>G (n.*1942A>G)
c.2045A>G (p.Glu682Gly)
c.*528A>G (n.*528A>G)
c.*2052A>G (n.*2052A>G)
c.1802A>G (p.Glu601Gly)
c.1402-10431A>G (n.1402-10431A>G)
c.2138A>G (p.Glu713Gly)
c.2318A>G (p.Glu773Gly)
c.1985A>G (p.Glu662Gly)
7g.117592395A>TCA368980504CFTRc.2228A>T (p.Glu743Val)
c.*1942A>T (n.*1942A>T)
c.2045A>T (p.Glu682Val)
c.*528A>T (n.*528A>T)
c.*2052A>T (n.*2052A>T)
c.1802A>T (p.Glu601Val)
c.1402-10431A>T (n.1402-10431A>T)
c.2138A>T (p.Glu713Val)
c.2318A>T (p.Glu773Val)
c.1985A>T (p.Glu662Val)
7g.117592396G>ACA457449491CFTRc.2229G>A (p.Glu743=)
c.*1943G>A (n.*1943G>A)
c.2046G>A (p.Glu682=)
c.*529G>A (n.*529G>A)
c.*2053G>A (n.*2053G>A)
c.1803G>A (p.Glu601=)
c.1402-10430G>A (n.1402-10430G>A)
c.2139G>A (p.Glu713=)
c.2319G>A (p.Glu773=)
c.1986G>A (p.Glu662=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
7g.117592396G>CCA368980509CFTRc.2229G>C (p.Glu743Asp)
c.*1943G>C (n.*1943G>C)
c.2046G>C (p.Glu682Asp)
c.*529G>C (n.*529G>C)
c.*2053G>C (n.*2053G>C)
c.1803G>C (p.Glu601Asp)
c.1402-10430G>C (n.1402-10430G>C)
c.2139G>C (p.Glu713Asp)
c.2319G>C (p.Glu773Asp)
c.1986G>C (p.Glu662Asp)
7g.117592396G=CA1737395053CFTRc.2229G= (p.Glu743=)
c.*1943G= (n.*1943G=)
c.2046G= (p.Glu682=)
c.*529G= (n.*529G=)
c.*2053G= (n.*2053G=)
c.1803G= (p.Glu601=)
c.1402-10430G= (n.1402-10430G=)
c.2139G= (p.Glu713=)
c.2319G= (p.Glu773=)
c.1986G= (p.Glu662=)
7g.117592396G>TCA368980511CFTRc.2229G>T (p.Glu743Asp)
c.*1943G>T (n.*1943G>T)
c.2046G>T (p.Glu682Asp)
c.*529G>T (n.*529G>T)
c.*2053G>T (n.*2053G>T)
c.1803G>T (p.Glu601Asp)
c.1402-10430G>T (n.1402-10430G>T)
c.2139G>T (p.Glu713Asp)
c.2319G>T (p.Glu773Asp)
c.1986G>T (p.Glu662Asp)
7g.117592397C>ACA368980514CFTRc.2230C>A (p.Gln744Lys)
c.*1944C>A (n.*1944C>A)
c.2047C>A (p.Gln683Lys)
c.*530C>A (n.*530C>A)
c.*2054C>A (n.*2054C>A)
c.1804C>A (p.Gln602Lys)
c.1402-10429C>A (n.1402-10429C>A)
c.2140C>A (p.Gln714Lys)
c.2320C>A (p.Gln774Lys)
c.1987C>A (p.Gln663Lys)
7g.117592397C>GCA368980516CFTRc.2230C>G (p.Gln744Glu)
c.*1944C>G (n.*1944C>G)
c.2047C>G (p.Gln683Glu)
c.*530C>G (n.*530C>G)
c.*2054C>G (n.*2054C>G)
c.1804C>G (p.Gln602Glu)
c.1402-10429C>G (n.1402-10429C>G)
c.2140C>G (p.Gln714Glu)
c.2320C>G (p.Gln774Glu)
c.1987C>G (p.Gln663Glu)
7g.117592397C>TCA368980518CFTRc.2230C>T (p.Gln744Ter)
c.*1944C>T (n.*1944C>T)
c.2047C>T (p.Gln683Ter)
c.*530C>T (n.*530C>T)
c.*2054C>T (n.*2054C>T)
c.1804C>T (p.Gln602Ter)
c.1402-10429C>T (n.1402-10429C>T)
c.2140C>T (p.Gln714Ter)
c.2320C>T (p.Gln774Ter)
c.1987C>T (p.Gln663Ter)
7g.117592398A=CA1737395055CFTRc.2231A= (p.Gln744=)
c.*1945A= (n.*1945A=)
c.2048A= (p.Gln683=)
c.*531A= (n.*531A=)
c.*2055A= (n.*2055A=)
c.1805A= (p.Gln602=)
c.1402-10428A= (n.1402-10428A=)
c.2141A= (p.Gln714=)
c.2321A= (p.Gln774=)
c.1988A= (p.Gln663=)
7g.117592398A>CCA368980519CFTRc.2231A>C (p.Gln744Pro)
c.*1945A>C (n.*1945A>C)
c.2048A>C (p.Gln683Pro)
c.*531A>C (n.*531A>C)
c.*2055A>C (n.*2055A>C)
c.1805A>C (p.Gln602Pro)
c.1402-10428A>C (n.1402-10428A>C)
c.2141A>C (p.Gln714Pro)
c.2321A>C (p.Gln774Pro)
c.1988A>C (p.Gln663Pro)
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.117592398A>GCA368980520CFTRc.2231A>G (p.Gln744Arg)
c.*1945A>G (n.*1945A>G)
c.2048A>G (p.Gln683Arg)
c.*531A>G (n.*531A>G)
c.*2055A>G (n.*2055A>G)
c.1805A>G (p.Gln602Arg)
c.1402-10428A>G (n.1402-10428A>G)
c.2141A>G (p.Gln714Arg)
c.2321A>G (p.Gln774Arg)
c.1988A>G (p.Gln663Arg)
 ClinVar gnomAD v4
7g.117592398A>TCA368980522CFTRc.2231A>T (p.Gln744Leu)
c.*1945A>T (n.*1945A>T)
c.2048A>T (p.Gln683Leu)
c.*531A>T (n.*531A>T)
c.*2055A>T (n.*2055A>T)
c.1805A>T (p.Gln602Leu)
c.1402-10428A>T (n.1402-10428A>T)
c.2141A>T (p.Gln714Leu)
c.2321A>T (p.Gln774Leu)
c.1988A>T (p.Gln663Leu)
7g.117592399G>ACA457449498CFTRc.2232G>A (p.Gln744=)
c.*1946G>A (n.*1946G>A)
c.2049G>A (p.Gln683=)
c.*532G>A (n.*532G>A)
c.*2056G>A (n.*2056G>A)
c.1806G>A (p.Gln602=)
c.1402-10427G>A (n.1402-10427G>A)
c.2142G>A (p.Gln714=)
c.2322G>A (p.Gln774=)
c.1989G>A (p.Gln663=)
7g.117592399G>CCA368980525CFTRc.2232G>C (p.Gln744His)
c.*1946G>C (n.*1946G>C)
c.2049G>C (p.Gln683His)
c.*532G>C (n.*532G>C)
c.*2056G>C (n.*2056G>C)
c.1806G>C (p.Gln602His)
c.1402-10427G>C (n.1402-10427G>C)
c.2142G>C (p.Gln714His)
c.2322G>C (p.Gln774His)
c.1989G>C (p.Gln663His)
7g.117592399G>TCA368980527CFTRc.2232G>T (p.Gln744His)
c.*1946G>T (n.*1946G>T)
c.2049G>T (p.Gln683His)
c.*532G>T (n.*532G>T)
c.*2056G>T (n.*2056G>T)
c.1806G>T (p.Gln602His)
c.1402-10427G>T (n.1402-10427G>T)
c.2142G>T (p.Gln714His)
c.2322G>T (p.Gln774His)
c.1989G>T (p.Gln663His)
7g.117592400G>ACA368980530CFTRc.2233G>A (p.Gly745Arg)
c.*1947G>A (n.*1947G>A)
c.2050G>A (p.Gly684Arg)
c.*533G>A (n.*533G>A)
c.*2057G>A (n.*2057G>A)
c.1807G>A (p.Gly603Arg)
c.1402-10426G>A (n.1402-10426G>A)
c.2143G>A (p.Gly715Arg)
c.2323G>A (p.Gly775Arg)
c.1990G>A (p.Gly664Arg)
 gnomAD v4
7g.117592400G>CCA368980532CFTRc.2233G>C (p.Gly745Arg)
c.*1947G>C (n.*1947G>C)
c.2050G>C (p.Gly684Arg)
c.*533G>C (n.*533G>C)
c.*2057G>C (n.*2057G>C)
c.1807G>C (p.Gly603Arg)
c.1402-10426G>C (n.1402-10426G>C)
c.2143G>C (p.Gly715Arg)
c.2323G>C (p.Gly775Arg)
c.1990G>C (p.Gly664Arg)
7g.117592400G=CA1737395058CFTRc.2233G= (p.Gly745=)
c.*1947G= (n.*1947G=)
c.2050G= (p.Gly684=)
c.*533G= (n.*533G=)
c.*2057G= (n.*2057G=)
c.1807G= (p.Gly603=)
c.1402-10426G= (n.1402-10426G=)
c.2143G= (p.Gly715=)
c.2323G= (p.Gly775=)
c.1990G= (p.Gly664=)
7g.117592400G>TCA326772CFTRc.2233G>T (p.Gly745Ter)
c.*1947G>T (n.*1947G>T)
c.2050G>T (p.Gly684Ter)
c.*533G>T (n.*533G>T)
c.*2057G>T (n.*2057G>T)
c.1807G>T (p.Gly603Ter)
c.1402-10426G>T (n.1402-10426G>T)
c.2143G>T (p.Gly715Ter)
c.2323G>T (p.Gly775Ter)
c.1990G>T (p.Gly664Ter)
 ClinVar dbSNP
7g.117592401G>ACA368980536CFTRc.2234G>A (p.Gly745Glu)
c.*1948G>A (n.*1948G>A)
c.2051G>A (p.Gly684Glu)
c.*534G>A (n.*534G>A)
c.*2058G>A (n.*2058G>A)
c.1808G>A (p.Gly603Glu)
c.1402-10425G>A (n.1402-10425G>A)
c.2144G>A (p.Gly715Glu)
c.2324G>A (p.Gly775Glu)
c.1991G>A (p.Gly664Glu)
 gnomAD v4
7g.117592401G>CCA368980540CFTRc.2234G>C (p.Gly745Ala)
c.*1948G>C (n.*1948G>C)
c.2051G>C (p.Gly684Ala)
c.*534G>C (n.*534G>C)
c.*2058G>C (n.*2058G>C)
c.1808G>C (p.Gly603Ala)
c.1402-10425G>C (n.1402-10425G>C)
c.2144G>C (p.Gly715Ala)
c.2324G>C (p.Gly775Ala)
c.1991G>C (p.Gly664Ala)
7g.117592401G>TCA368980537CFTRc.2234G>T (p.Gly745Val)
c.*1948G>T (n.*1948G>T)
c.2051G>T (p.Gly684Val)
c.*534G>T (n.*534G>T)
c.*2058G>T (n.*2058G>T)
c.1808G>T (p.Gly603Val)
c.1402-10425G>T (n.1402-10425G>T)
c.2144G>T (p.Gly715Val)
c.2324G>T (p.Gly775Val)
c.1991G>T (p.Gly664Val)
7g.117592402A>CCA457449503CFTRc.2235A>C (p.Gly745=)
c.*1949A>C (n.*1949A>C)
c.2052A>C (p.Gly684=)
c.*535A>C (n.*535A>C)
c.*2059A>C (n.*2059A>C)
c.1809A>C (p.Gly603=)
c.1402-10424A>C (n.1402-10424A>C)
c.2145A>C (p.Gly715=)
c.2325A>C (p.Gly775=)
c.1992A>C (p.Gly664=)
7g.117592402A>GCA457449504CFTRc.2235A>G (p.Gly745=)
c.*1949A>G (n.*1949A>G)
c.2052A>G (p.Gly684=)
c.*535A>G (n.*535A>G)
c.*2059A>G (n.*2059A>G)
c.1809A>G (p.Gly603=)
c.1402-10424A>G (n.1402-10424A>G)
c.2145A>G (p.Gly715=)
c.2325A>G (p.Gly775=)
c.1992A>G (p.Gly664=)
 ClinVar
7g.117592402A>TCA457449505CFTRc.2235A>T (p.Gly745=)
c.*1949A>T (n.*1949A>T)
c.2052A>T (p.Gly684=)
c.*535A>T (n.*535A>T)
c.*2059A>T (n.*2059A>T)
c.1809A>T (p.Gly603=)
c.1402-10424A>T (n.1402-10424A>T)
c.2145A>T (p.Gly715=)
c.2325A>T (p.Gly775=)
c.1992A>T (p.Gly664=)
7g.117592403G>ACA368980542CFTRc.2236G>A (p.Glu746Lys)
c.*1950G>A (n.*1950G>A)
c.2053G>A (p.Glu685Lys)
c.*536G>A (n.*536G>A)
c.*2060G>A (n.*2060G>A)
c.1810G>A (p.Glu604Lys)
c.1402-10423G>A (n.1402-10423G>A)
c.2146G>A (p.Glu716Lys)
c.2326G>A (p.Glu776Lys)
c.1993G>A (p.Glu665Lys)
7g.117592403G>CCA368980545CFTRc.2236G>C (p.Glu746Gln)
c.*1950G>C (n.*1950G>C)
c.2053G>C (p.Glu685Gln)
c.*536G>C (n.*536G>C)
c.*2060G>C (n.*2060G>C)
c.1810G>C (p.Glu604Gln)
c.1402-10423G>C (n.1402-10423G>C)
c.2146G>C (p.Glu716Gln)
c.2326G>C (p.Glu776Gln)
c.1993G>C (p.Glu665Gln)
7g.117592403G>TCA368980547CFTRc.2236G>T (p.Glu746Ter)
c.*1950G>T (n.*1950G>T)
c.2053G>T (p.Glu685Ter)
c.*536G>T (n.*536G>T)
c.*2060G>T (n.*2060G>T)
c.1810G>T (p.Glu604Ter)
c.1402-10423G>T (n.1402-10423G>T)
c.2146G>T (p.Glu716Ter)
c.2326G>T (p.Glu776Ter)
c.1993G>T (p.Glu665Ter)
7g.117592403_117592413delinsAAAAATCCA2695208514CFTRc.2236_2246delinsAAAAATC (p.Glu746LysfsTer8)
c.*1950_*1960delinsAAAAATC (n.*1950_*1960delinsAAAAATC)
c.2053_2063delinsAAAAATC (p.Glu685LysfsTer8)
c.*536_*546delinsAAAAATC (n.*536_*546delinsAAAAATC)
c.*2060_*2070delinsAAAAATC (n.*2060_*2070delinsAAAAATC)
c.1810_1820delinsAAAAATC (p.Glu604LysfsTer8)
c.1402-10423_1402-10413delinsAAAAATC (n.1402-10423_1402-10413delinsAAAAATC)
c.2146_2156delinsAAAAATC (p.Glu716LysfsTer8)
c.2326_2336delinsAAAAATC (p.Glu776LysfsTer8)
c.1993_2003delinsAAAAATC (p.Glu665LysfsTer8)
7g.117592404_117592414delCA2695208515CFTRc.2237_2247del (p.Glu746AlafsTer29)
c.*1951_*1961del (n.*1951_*1961del)
c.2054_2064del (p.Glu685AlafsTer29)
c.*537_*547del (n.*537_*547del)
c.*2061_*2071del (n.*2061_*2071del)
c.1811_1821del (p.Glu604AlafsTer29)
c.1402-10422_1402-10412del (n.1402-10422_1402-10412del)
c.2147_2157del (p.Glu716AlafsTer29)
c.2327_2337del (p.Glu776AlafsTer29)
c.1994_2004del (p.Glu665AlafsTer29)
7g.117592404A>CCA368980550CFTRc.2237A>C (p.Glu746Ala)
c.*1951A>C (n.*1951A>C)
c.2054A>C (p.Glu685Ala)
c.*537A>C (n.*537A>C)
c.*2061A>C (n.*2061A>C)
c.1811A>C (p.Glu604Ala)
c.1402-10422A>C (n.1402-10422A>C)
c.2147A>C (p.Glu716Ala)
c.2327A>C (p.Glu776Ala)
c.1994A>C (p.Glu665Ala)
7g.117592404A>GCA368980552CFTRc.2237A>G (p.Glu746Gly)
c.*1951A>G (n.*1951A>G)
c.2054A>G (p.Glu685Gly)
c.*537A>G (n.*537A>G)
c.*2061A>G (n.*2061A>G)
c.1811A>G (p.Glu604Gly)
c.1402-10422A>G (n.1402-10422A>G)
c.2147A>G (p.Glu716Gly)
c.2327A>G (p.Glu776Gly)
c.1994A>G (p.Glu665Gly)
7g.117592404A>TCA368980554CFTRc.2237A>T (p.Glu746Val)
c.*1951A>T (n.*1951A>T)
c.2054A>T (p.Glu685Val)
c.*537A>T (n.*537A>T)
c.*2061A>T (n.*2061A>T)
c.1811A>T (p.Glu604Val)
c.1402-10422A>T (n.1402-10422A>T)
c.2147A>T (p.Glu716Val)
c.2327A>T (p.Glu776Val)
c.1994A>T (p.Glu665Val)
7g.117592405G>ACA457449509CFTRc.2238G>A (p.Glu746=)
c.*1952G>A (n.*1952G>A)
c.2055G>A (p.Glu685=)
c.*538G>A (n.*538G>A)
c.*2062G>A (n.*2062G>A)
c.1812G>A (p.Glu604=)
c.1402-10421G>A (n.1402-10421G>A)
c.2148G>A (p.Glu716=)
c.2328G>A (p.Glu776=)
c.1995G>A (p.Glu665=)
 dbSNP
7g.117592405G>CCA368980557CFTRc.2238G>C (p.Glu746Asp)
c.*1952G>C (n.*1952G>C)
c.2055G>C (p.Glu685Asp)
c.*538G>C (n.*538G>C)
c.*2062G>C (n.*2062G>C)
c.1812G>C (p.Glu604Asp)
c.1402-10421G>C (n.1402-10421G>C)
c.2148G>C (p.Glu716Asp)
c.2328G>C (p.Glu776Asp)
c.1995G>C (p.Glu665Asp)
 ClinVar
7g.117592405G=CA1737395065CFTRc.2238G= (p.Glu746=)
c.*1952G= (n.*1952G=)
c.2055G= (p.Glu685=)
c.*538G= (n.*538G=)
c.*2062G= (n.*2062G=)
c.1812G= (p.Glu604=)
c.1402-10421G= (n.1402-10421G=)
c.2148G= (p.Glu716=)
c.2328G= (p.Glu776=)
c.1995G= (p.Glu665=)
7g.117592405G>TCA368980559CFTRc.2238G>T (p.Glu746Asp)
c.*1952G>T (n.*1952G>T)
c.2055G>T (p.Glu685Asp)
c.*538G>T (n.*538G>T)
c.*2062G>T (n.*2062G>T)
c.1812G>T (p.Glu604Asp)
c.1402-10421G>T (n.1402-10421G>T)
c.2148G>T (p.Glu716Asp)
c.2328G>T (p.Glu776Asp)
c.1995G>T (p.Glu665Asp)
7g.117592405_117592413delinsGGCGATACTCA1737395063CFTRc.2238_2246delinsGGCGATACT (p.Glu746=)
c.*1952_*1960delinsGGCGATACT (n.*1952_*1960delinsGGCGATACT)
c.2055_2063delinsGGCGATACT (p.Glu685=)
c.*538_*546delinsGGCGATACT (n.*538_*546delinsGGCGATACT)
c.*2062_*2070delinsGGCGATACT (n.*2062_*2070delinsGGCGATACT)
c.1812_1820delinsGGCGATACT (p.Glu604=)
c.1402-10421_1402-10413delinsGGCGATACT (n.1402-10421_1402-10413delinsGGCGATACT)
c.2148_2156delinsGGCGATACT (p.Glu716=)
c.2328_2336delinsGGCGATACT (p.Glu776=)
c.1995_2003delinsGGCGATACT (p.Glu665=)
7g.117592406G>ACA368980563CFTRc.2239G>A (p.Ala747Thr)
c.*1953G>A (n.*1953G>A)
c.2056G>A (p.Ala686Thr)
c.*539G>A (n.*539G>A)
c.*2063G>A (n.*2063G>A)
c.1813G>A (p.Ala605Thr)
c.1402-10420G>A (n.1402-10420G>A)
c.2149G>A (p.Ala717Thr)
c.2329G>A (p.Ala777Thr)
c.1996G>A (p.Ala666Thr)
 gnomAD v4
7g.117592406G>CCA368980565CFTRc.2239G>C (p.Ala747Pro)
c.*1953G>C (n.*1953G>C)
c.2056G>C (p.Ala686Pro)
c.*539G>C (n.*539G>C)
c.*2063G>C (n.*2063G>C)
c.1813G>C (p.Ala605Pro)
c.1402-10420G>C (n.1402-10420G>C)
c.2149G>C (p.Ala717Pro)
c.2329G>C (p.Ala777Pro)
c.1996G>C (p.Ala666Pro)
7g.117592406G>TCA368980568CFTRc.2239G>T (p.Ala747Ser)
c.*1953G>T (n.*1953G>T)
c.2056G>T (p.Ala686Ser)
c.*539G>T (n.*539G>T)
c.*2063G>T (n.*2063G>T)
c.1813G>T (p.Ala605Ser)
c.1402-10420G>T (n.1402-10420G>T)
c.2149G>T (p.Ala717Ser)
c.2329G>T (p.Ala777Ser)
c.1996G>T (p.Ala666Ser)
7g.117592408_117592415delCA326774CFTRc.2241_2248del (p.Ile748SerfsTer28)
c.*1955_*1962del (n.*1955_*1962del)
c.2058_2065del (p.Ile687SerfsTer28)
c.*541_*548del (n.*541_*548del)
c.*2065_*2072del (n.*2065_*2072del)
c.1815_1822del (p.Ile606SerfsTer28)
c.1402-10418_1402-10411del (n.1402-10418_1402-10411del)
c.2151_2158del (p.Ile718SerfsTer28)
c.2331_2338del (p.Ile778SerfsTer28)
c.1998_2005del (p.Ile667SerfsTer28)
 ClinVar dbSNP
7g.117592407C>ACA368980576CFTRc.2240C>A (p.Ala747Glu)
c.*1954C>A (n.*1954C>A)
c.2057C>A (p.Ala686Glu)
c.*540C>A (n.*540C>A)
c.*2064C>A (n.*2064C>A)
c.1814C>A (p.Ala605Glu)
c.1402-10419C>A (n.1402-10419C>A)
c.2150C>A (p.Ala717Glu)
c.2330C>A (p.Ala777Glu)
c.1997C>A (p.Ala666Glu)
 ClinVar
7g.117592407C=CA1737395072CFTRc.2240C= (p.Ala747=)
c.*1954C= (n.*1954C=)
c.2057C= (p.Ala686=)
c.*540C= (n.*540C=)
c.*2064C= (n.*2064C=)
c.1814C= (p.Ala605=)
c.1402-10419C= (n.1402-10419C=)
c.2150C= (p.Ala717=)
c.2330C= (p.Ala777=)
c.1997C= (p.Ala666=)
7g.117592407C>GCA368980574CFTRc.2240C>G (p.Ala747Gly)
c.*1954C>G (n.*1954C>G)
c.2057C>G (p.Ala686Gly)
c.*540C>G (n.*540C>G)
c.*2064C>G (n.*2064C>G)
c.1814C>G (p.Ala605Gly)
c.1402-10419C>G (n.1402-10419C>G)
c.2150C>G (p.Ala717Gly)
c.2330C>G (p.Ala777Gly)
c.1997C>G (p.Ala666Gly)
7g.117592407C>TCA4451156CFTRc.2240C>T (p.Ala747Val)
c.*1954C>T (n.*1954C>T)
c.2057C>T (p.Ala686Val)
c.*540C>T (n.*540C>T)
c.*2064C>T (n.*2064C>T)
c.1814C>T (p.Ala605Val)
c.1402-10419C>T (n.1402-10419C>T)
c.2150C>T (p.Ala717Val)
c.2330C>T (p.Ala777Val)
c.1997C>T (p.Ala666Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
7g.117592408delCA2580076537CFTRc.2241del (p.Ile748TyrfsTer7)
c.*1955del (n.*1955del)
c.2058del (p.Ile687TyrfsTer7)
c.*541del (n.*541del)
c.*2065del (n.*2065del)
c.1815del (p.Ile606TyrfsTer7)
c.1402-10418del (n.1402-10418del)
c.2151del (p.Ile718TyrfsTer7)
c.2331del (p.Ile778TyrfsTer7)
c.1998del (p.Ile667TyrfsTer7)
 ClinVar
7g.117592408G>ACA4451157CFTRc.2241G>A (p.Ala747=)
c.*1955G>A (n.*1955G>A)
c.2058G>A (p.Ala686=)
c.*541G>A (n.*541G>A)
c.*2065G>A (n.*2065G>A)
c.1815G>A (p.Ala605=)
c.1402-10418G>A (n.1402-10418G>A)
c.2151G>A (p.Ala717=)
c.2331G>A (p.Ala777=)
c.1998G>A (p.Ala666=)
 ClinVar dbSNP ExAC gnomAD v3 gnomAD v4
7g.117592408G>CCA457449521CFTRc.2241G>C (p.Ala747=)
c.*1955G>C (n.*1955G>C)
c.2058G>C (p.Ala686=)
c.*541G>C (n.*541G>C)
c.*2065G>C (n.*2065G>C)
c.1815G>C (p.Ala605=)
c.1402-10418G>C (n.1402-10418G>C)
c.2151G>C (p.Ala717=)
c.2331G>C (p.Ala777=)
c.1998G>C (p.Ala666=)
7g.117592408G=CA1737395075CFTRc.2241G= (p.Ala747=)
c.*1955G= (n.*1955G=)
c.2058G= (p.Ala686=)
c.*541G= (n.*541G=)
c.*2065G= (n.*2065G=)
c.1815G= (p.Ala605=)
c.1402-10418G= (n.1402-10418G=)
c.2151G= (p.Ala717=)
c.2331G= (p.Ala777=)
c.1998G= (p.Ala666=)
7g.117592408G>TCA457449522CFTRc.2241G>T (p.Ala747=)
c.*1955G>T (n.*1955G>T)
c.2058G>T (p.Ala686=)
c.*541G>T (n.*541G>T)
c.*2065G>T (n.*2065G>T)
c.1815G>T (p.Ala605=)
c.1402-10418G>T (n.1402-10418G>T)
c.2151G>T (p.Ala717=)
c.2331G>T (p.Ala777=)
c.1998G>T (p.Ala666=)
7g.117592409A>CCA368980586CFTRc.2242A>C (p.Ile748Leu)
c.*1956A>C (n.*1956A>C)
c.2059A>C (p.Ile687Leu)
c.*542A>C (n.*542A>C)
c.*2066A>C (n.*2066A>C)
c.1816A>C (p.Ile606Leu)
c.1402-10417A>C (n.1402-10417A>C)
c.2152A>C (p.Ile718Leu)
c.2332A>C (p.Ile778Leu)
c.1999A>C (p.Ile667Leu)
7g.117592409A>GCA368980588CFTRc.2242A>G (p.Ile748Val)
c.*1956A>G (n.*1956A>G)
c.2059A>G (p.Ile687Val)
c.*542A>G (n.*542A>G)
c.*2066A>G (n.*2066A>G)
c.1816A>G (p.Ile606Val)
c.1402-10417A>G (n.1402-10417A>G)
c.2152A>G (p.Ile718Val)
c.2332A>G (p.Ile778Val)
c.1999A>G (p.Ile667Val)
7g.117592409A>TCA368980590CFTRc.2242A>T (p.Ile748Leu)
c.*1956A>T (n.*1956A>T)
c.2059A>T (p.Ile687Leu)
c.*542A>T (n.*542A>T)
c.*2066A>T (n.*2066A>T)
c.1816A>T (p.Ile606Leu)
c.1402-10417A>T (n.1402-10417A>T)
c.2152A>T (p.Ile718Leu)
c.2332A>T (p.Ile778Leu)
c.1999A>T (p.Ile667Leu)
7g.117592410T>ACA368980593CFTRc.2243T>A (p.Ile748Lys)
c.*1957T>A (n.*1957T>A)
c.2060T>A (p.Ile687Lys)
c.*543T>A (n.*543T>A)
c.*2067T>A (n.*2067T>A)
c.1817T>A (p.Ile606Lys)
c.1402-10416T>A (n.1402-10416T>A)
c.2153T>A (p.Ile718Lys)
c.2333T>A (p.Ile778Lys)
c.2000T>A (p.Ile667Lys)
7g.117592410T>CCA368980595CFTRc.2243T>C (p.Ile748Thr)
c.*1957T>C (n.*1957T>C)
c.2060T>C (p.Ile687Thr)
c.*543T>C (n.*543T>C)
c.*2067T>C (n.*2067T>C)
c.1817T>C (p.Ile606Thr)
c.1402-10416T>C (n.1402-10416T>C)
c.2153T>C (p.Ile718Thr)
c.2333T>C (p.Ile778Thr)
c.2000T>C (p.Ile667Thr)
 gnomAD v4 COSMIC
7g.117592410T>GCA368980598CFTRc.2243T>G (p.Ile748Arg)
c.*1957T>G (n.*1957T>G)
c.2060T>G (p.Ile687Arg)
c.*543T>G (n.*543T>G)
c.*2067T>G (n.*2067T>G)
c.1817T>G (p.Ile606Arg)
c.1402-10416T>G (n.1402-10416T>G)
c.2153T>G (p.Ile718Arg)
c.2333T>G (p.Ile778Arg)
c.2000T>G (p.Ile667Arg)
7g.117592411A>CCA457449530CFTRc.2244A>C (p.Ile748=)
c.*1958A>C (n.*1958A>C)
c.2061A>C (p.Ile687=)
c.*544A>C (n.*544A>C)
c.*2068A>C (n.*2068A>C)
c.1818A>C (p.Ile606=)
c.1402-10415A>C (n.1402-10415A>C)
c.2154A>C (p.Ile718=)
c.2334A>C (p.Ile778=)
c.2001A>C (p.Ile667=)
7g.117592411A>GCA368980600CFTRc.2244A>G (p.Ile748Met)
c.*1958A>G (n.*1958A>G)
c.2061A>G (p.Ile687Met)
c.*544A>G (n.*544A>G)
c.*2068A>G (n.*2068A>G)
c.1818A>G (p.Ile606Met)
c.1402-10415A>G (n.1402-10415A>G)
c.2154A>G (p.Ile718Met)
c.2334A>G (p.Ile778Met)
c.2001A>G (p.Ile667Met)
7g.117592411A>TCA457449531CFTRc.2244A>T (p.Ile748=)
c.*1958A>T (n.*1958A>T)
c.2061A>T (p.Ile687=)
c.*544A>T (n.*544A>T)
c.*2068A>T (n.*2068A>T)
c.1818A>T (p.Ile606=)
c.1402-10415A>T (n.1402-10415A>T)
c.2154A>T (p.Ile718=)
c.2334A>T (p.Ile778=)
c.2001A>T (p.Ile667=)
7g.117592412C>ACA368980604CFTRc.2245C>A (p.Leu749Met)
c.*1959C>A (n.*1959C>A)
c.2062C>A (p.Leu688Met)
c.*545C>A (n.*545C>A)
c.*2069C>A (n.*2069C>A)
c.1819C>A (p.Leu607Met)
c.1402-10414C>A (n.1402-10414C>A)
c.2155C>A (p.Leu719Met)
c.2335C>A (p.Leu779Met)
c.2002C>A (p.Leu668Met)
 dbSNP
7g.117592412C=CA1737395080CFTRc.2245C= (p.Leu749=)
c.*1959C= (n.*1959C=)
c.2062C= (p.Leu688=)
c.*545C= (n.*545C=)
c.*2069C= (n.*2069C=)
c.1819C= (p.Leu607=)
c.1402-10414C= (n.1402-10414C=)
c.2155C= (p.Leu719=)
c.2335C= (p.Leu779=)
c.2002C= (p.Leu668=)
7g.117592412C>GCA368980607CFTRc.2245C>G (p.Leu749Val)
c.*1959C>G (n.*1959C>G)
c.2062C>G (p.Leu688Val)
c.*545C>G (n.*545C>G)
c.*2069C>G (n.*2069C>G)
c.1819C>G (p.Leu607Val)
c.1402-10414C>G (n.1402-10414C>G)
c.2155C>G (p.Leu719Val)
c.2335C>G (p.Leu779Val)
c.2002C>G (p.Leu668Val)
7g.117592412C>TCA4451158CFTRc.2245C>T (p.Leu749=)
c.*1959C>T (n.*1959C>T)
c.2062C>T (p.Leu688=)
c.*545C>T (n.*545C>T)
c.*2069C>T (n.*2069C>T)
c.1819C>T (p.Leu607=)
c.1402-10414C>T (n.1402-10414C>T)
c.2155C>T (p.Leu719=)
c.2335C>T (p.Leu779=)
c.2002C>T (p.Leu668=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117592413_117592415delCA2684619360CFTRc.2246_2248del (p.Leu749del)
c.*1960_*1962del (n.*1960_*1962del)
c.2063_2065del (p.Leu688del)
c.*546_*548del (n.*546_*548del)
c.*2070_*2072del (n.*2070_*2072del)
c.1820_1822del (p.Leu607del)
c.1402-10413_1402-10411del (n.1402-10413_1402-10411del)
c.2156_2158del (p.Leu719del)
c.2336_2338del (p.Leu779del)
c.2003_2005del (p.Leu668del)
 gnomAD v4
7g.117592413T>ACA368980619CFTRc.2246T>A (p.Leu749Gln)
c.*1960T>A (n.*1960T>A)
c.2063T>A (p.Leu688Gln)
c.*546T>A (n.*546T>A)
c.*2070T>A (n.*2070T>A)
c.1820T>A (p.Leu607Gln)
c.1402-10413T>A (n.1402-10413T>A)
c.2156T>A (p.Leu719Gln)
c.2336T>A (p.Leu779Gln)
c.2003T>A (p.Leu668Gln)
 gnomAD v4
7g.117592413T>CCA368980616CFTRc.2246T>C (p.Leu749Pro)
c.*1960T>C (n.*1960T>C)
c.2063T>C (p.Leu688Pro)
c.*546T>C (n.*546T>C)
c.*2070T>C (n.*2070T>C)
c.1820T>C (p.Leu607Pro)
c.1402-10413T>C (n.1402-10413T>C)
c.2156T>C (p.Leu719Pro)
c.2336T>C (p.Leu779Pro)
c.2003T>C (p.Leu668Pro)
7g.117592413T>GCA368980614CFTRc.2246T>G (p.Leu749Arg)
c.*1960T>G (n.*1960T>G)
c.2063T>G (p.Leu688Arg)
c.*546T>G (n.*546T>G)
c.*2070T>G (n.*2070T>G)
c.1820T>G (p.Leu607Arg)
c.1402-10413T>G (n.1402-10413T>G)
c.2156T>G (p.Leu719Arg)
c.2336T>G (p.Leu779Arg)
c.2003T>G (p.Leu668Arg)
7g.117592414G>ACA457449544CFTRc.2247G>A (p.Leu749=)
c.*1961G>A (n.*1961G>A)
c.2064G>A (p.Leu688=)
c.*547G>A (n.*547G>A)
c.*2071G>A (n.*2071G>A)
c.1821G>A (p.Leu607=)
c.1402-10412G>A (n.1402-10412G>A)
c.2157G>A (p.Leu719=)
c.2337G>A (p.Leu779=)
c.2004G>A (p.Leu668=)
7g.117592414G>CCA457449546CFTRc.2247G>C (p.Leu749=)
c.*1961G>C (n.*1961G>C)
c.2064G>C (p.Leu688=)
c.*547G>C (n.*547G>C)
c.*2071G>C (n.*2071G>C)
c.1821G>C (p.Leu607=)
c.1402-10412G>C (n.1402-10412G>C)
c.2157G>C (p.Leu719=)
c.2337G>C (p.Leu779=)
c.2004G>C (p.Leu668=)
 dbSNP
7g.117592414G=CA1737395085CFTRc.2247G= (p.Leu749=)
c.*1961G= (n.*1961G=)
c.2064G= (p.Leu688=)
c.*547G= (n.*547G=)
c.*2071G= (n.*2071G=)
c.1821G= (p.Leu607=)
c.1402-10412G= (n.1402-10412G=)
c.2157G= (p.Leu719=)
c.2337G= (p.Leu779=)
c.2004G= (p.Leu668=)
7g.117592414G>TCA457449548CFTRc.2247G>T (p.Leu749=)
c.*1961G>T (n.*1961G>T)
c.2064G>T (p.Leu688=)
c.*547G>T (n.*547G>T)
c.*2071G>T (n.*2071G>T)
c.1821G>T (p.Leu607=)
c.1402-10412G>T (n.1402-10412G>T)
c.2157G>T (p.Leu719=)
c.2337G>T (p.Leu779=)
c.2004G>T (p.Leu668=)
7g.117592414_117592422delinsGCCTCGCATCA1737395083CFTRc.2247_2255delinsGCCTCGCAT (p.Leu749=)
c.*1961_*1969delinsGCCTCGCAT (n.*1961_*1969delinsGCCTCGCAT)
c.2064_2072delinsGCCTCGCAT (p.Leu688=)
c.*547_*555delinsGCCTCGCAT (n.*547_*555delinsGCCTCGCAT)
c.*2071_*2079delinsGCCTCGCAT (n.*2071_*2079delinsGCCTCGCAT)
c.1821_1829delinsGCCTCGCAT (p.Leu607=)
c.1402-10412_1402-10404delinsGCCTCGCAT (n.1402-10412_1402-10404delinsGCCTCGCAT)
c.2157_2165delinsGCCTCGCAT (p.Leu719=)
c.2337_2345delinsGCCTCGCAT (p.Leu779=)
c.2004_2012delinsGCCTCGCAT (p.Leu668=)
7g.117592415C>ACA368980622CFTRc.2248C>A (p.Pro750Thr)
c.*1962C>A (n.*1962C>A)
c.2065C>A (p.Pro689Thr)
c.*548C>A (n.*548C>A)
c.*2072C>A (n.*2072C>A)
c.1822C>A (p.Pro608Thr)
c.1402-10411C>A (n.1402-10411C>A)
c.2158C>A (p.Pro720Thr)
c.2338C>A (p.Pro780Thr)
c.2005C>A (p.Pro669Thr)
 ClinVar
7g.117592415C>GCA368980624CFTRc.2248C>G (p.Pro750Ala)
c.*1962C>G (n.*1962C>G)
c.2065C>G (p.Pro689Ala)
c.*548C>G (n.*548C>G)
c.*2072C>G (n.*2072C>G)
c.1822C>G (p.Pro608Ala)
c.1402-10411C>G (n.1402-10411C>G)
c.2158C>G (p.Pro720Ala)
c.2338C>G (p.Pro780Ala)
c.2005C>G (p.Pro669Ala)
7g.117592415C>TCA368980626CFTRc.2248C>T (p.Pro750Ser)
c.*1962C>T (n.*1962C>T)
c.2065C>T (p.Pro689Ser)
c.*548C>T (n.*548C>T)
c.*2072C>T (n.*2072C>T)
c.1822C>T (p.Pro608Ser)
c.1402-10411C>T (n.1402-10411C>T)
c.2158C>T (p.Pro720Ser)
c.2338C>T (p.Pro780Ser)
c.2005C>T (p.Pro669Ser)
7g.117592416_117592423delCA326775CFTRc.2249_2256del (p.Pro750GlnfsTer26)
c.*1963_*1970del (n.*1963_*1970del)
c.2066_2073del (p.Pro689GlnfsTer26)
c.*549_*556del (n.*549_*556del)
c.*2073_*2080del (n.*2073_*2080del)
c.1823_1830del (p.Pro608GlnfsTer26)
c.1402-10410_1402-10403del (n.1402-10410_1402-10403del)
c.2159_2166del (p.Pro720GlnfsTer26)
c.2339_2346del (p.Pro780GlnfsTer26)
c.2006_2013del (p.Pro669GlnfsTer26)
 ClinVar dbSNP
7g.117592416C>ACA368980630CFTRc.2249C>A (p.Pro750His)
c.*1963C>A (n.*1963C>A)
c.2066C>A (p.Pro689His)
c.*549C>A (n.*549C>A)
c.*2073C>A (n.*2073C>A)
c.1823C>A (p.Pro608His)
c.1402-10410C>A (n.1402-10410C>A)
c.2159C>A (p.Pro720His)
c.2339C>A (p.Pro780His)
c.2006C>A (p.Pro669His)
7g.117592416C=CA1737395094CFTRc.2249C= (p.Pro750=)
c.*1963C= (n.*1963C=)
c.2066C= (p.Pro689=)
c.*549C= (n.*549C=)
c.*2073C= (n.*2073C=)
c.1823C= (p.Pro608=)
c.1402-10410C= (n.1402-10410C=)
c.2159C= (p.Pro720=)
c.2339C= (p.Pro780=)
c.2006C= (p.Pro669=)
7g.117592416C>GCA368980632CFTRc.2249C>G (p.Pro750Arg)
c.*1963C>G (n.*1963C>G)
c.2066C>G (p.Pro689Arg)
c.*549C>G (n.*549C>G)
c.*2073C>G (n.*2073C>G)
c.1823C>G (p.Pro608Arg)
c.1402-10410C>G (n.1402-10410C>G)
c.2159C>G (p.Pro720Arg)
c.2339C>G (p.Pro780Arg)
c.2006C>G (p.Pro669Arg)
7g.117592416C>TCA221011CFTRc.2249C>T (p.Pro750Leu)
c.*1963C>T (n.*1963C>T)
c.2066C>T (p.Pro689Leu)
c.*549C>T (n.*549C>T)
c.*2073C>T (n.*2073C>T)
c.1823C>T (p.Pro608Leu)
c.1402-10410C>T (n.1402-10410C>T)
c.2159C>T (p.Pro720Leu)
c.2339C>T (p.Pro780Leu)
c.2006C>T (p.Pro669Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117592417T>ACA457449554CFTRc.2250T>A (p.Pro750=)
c.*1964T>A (n.*1964T>A)
c.2067T>A (p.Pro689=)
c.*550T>A (n.*550T>A)
c.*2074T>A (n.*2074T>A)
c.1824T>A (p.Pro608=)
c.1402-10409T>A (n.1402-10409T>A)
c.2160T>A (p.Pro720=)
c.2340T>A (p.Pro780=)
c.2007T>A (p.Pro669=)
7g.117592417T>CCA457449555CFTRc.2250T>C (p.Pro750=)
c.*1964T>C (n.*1964T>C)
c.2067T>C (p.Pro689=)
c.*550T>C (n.*550T>C)
c.*2074T>C (n.*2074T>C)
c.1824T>C (p.Pro608=)
c.1402-10409T>C (n.1402-10409T>C)
c.2160T>C (p.Pro720=)
c.2340T>C (p.Pro780=)
c.2007T>C (p.Pro669=)
7g.117592417T>GCA457449556CFTRc.2250T>G (p.Pro750=)
c.*1964T>G (n.*1964T>G)
c.2067T>G (p.Pro689=)
c.*550T>G (n.*550T>G)
c.*2074T>G (n.*2074T>G)
c.1824T>G (p.Pro608=)
c.1402-10409T>G (n.1402-10409T>G)
c.2160T>G (p.Pro720=)
c.2340T>G (p.Pro780=)
c.2007T>G (p.Pro669=)
7g.117592418C>ACA368980639CFTRc.2251C>A (p.Arg751Ser)
c.*1965C>A (n.*1965C>A)
c.2068C>A (p.Arg690Ser)
c.*551C>A (n.*551C>A)
c.*2075C>A (n.*2075C>A)
c.1825C>A (p.Arg609Ser)
c.1402-10408C>A (n.1402-10408C>A)
c.2161C>A (p.Arg721Ser)
c.2341C>A (p.Arg781Ser)
c.2008C>A (p.Arg670Ser)
7g.117592418C=CA1737395098CFTRc.2251C= (p.Arg751=)
c.*1965C= (n.*1965C=)
c.2068C= (p.Arg690=)
c.*551C= (n.*551C=)
c.*2075C= (n.*2075C=)
c.1825C= (p.Arg609=)
c.1402-10408C= (n.1402-10408C=)
c.2161C= (p.Arg721=)
c.2341C= (p.Arg781=)
c.2008C= (p.Arg670=)
7g.117592418C>GCA368980643CFTRc.2251C>G (p.Arg751Gly)
c.*1965C>G (n.*1965C>G)
c.2068C>G (p.Arg690Gly)
c.*551C>G (n.*551C>G)
c.*2075C>G (n.*2075C>G)
c.1825C>G (p.Arg609Gly)
c.1402-10408C>G (n.1402-10408C>G)
c.2161C>G (p.Arg721Gly)
c.2341C>G (p.Arg781Gly)
c.2008C>G (p.Arg670Gly)
 gnomAD v4
7g.117592418C>TCA4451159CFTRc.2251C>T (p.Arg751Cys)
c.*1965C>T (n.*1965C>T)
c.2068C>T (p.Arg690Cys)
c.*551C>T (n.*551C>T)
c.*2075C>T (n.*2075C>T)
c.1825C>T (p.Arg609Cys)
c.1402-10408C>T (n.1402-10408C>T)
c.2161C>T (p.Arg721Cys)
c.2341C>T (p.Arg781Cys)
c.2008C>T (p.Arg670Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117592419G>ACA4451160CFTRc.2252G>A (p.Arg751His)
c.*1966G>A (n.*1966G>A)
c.2069G>A (p.Arg690His)
c.*552G>A (n.*552G>A)
c.*2076G>A (n.*2076G>A)
c.1826G>A (p.Arg609His)
c.1402-10407G>A (n.1402-10407G>A)
c.2162G>A (p.Arg721His)
c.2342G>A (p.Arg781His)
c.2009G>A (p.Arg670His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
7g.117592419G>CCA326778CFTRc.2252G>C (p.Arg751Pro)
c.*1966G>C (n.*1966G>C)
c.2069G>C (p.Arg690Pro)
c.*552G>C (n.*552G>C)
c.*2076G>C (n.*2076G>C)
c.1826G>C (p.Arg609Pro)
c.1402-10407G>C (n.1402-10407G>C)
c.2162G>C (p.Arg721Pro)
c.2342G>C (p.Arg781Pro)
c.2009G>C (p.Arg670Pro)
 dbSNP
7g.117592419G=CA1737395104CFTRc.2252G= (p.Arg751=)
c.*1966G= (n.*1966G=)
c.2069G= (p.Arg690=)
c.*552G= (n.*552G=)
c.*2076G= (n.*2076G=)
c.1826G= (p.Arg609=)
c.1402-10407G= (n.1402-10407G=)
c.2162G= (p.Arg721=)
c.2342G= (p.Arg781=)
c.2009G= (p.Arg670=)
7g.117592419G>TCA10581251CFTRc.2252G>T (p.Arg751Leu)
c.*1966G>T (n.*1966G>T)
c.2069G>T (p.Arg690Leu)
c.*552G>T (n.*552G>T)
c.*2076G>T (n.*2076G>T)
c.1826G>T (p.Arg609Leu)
c.1402-10407G>T (n.1402-10407G>T)
c.2162G>T (p.Arg721Leu)
c.2342G>T (p.Arg781Leu)
c.2009G>T (p.Arg670Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.117592420C>ACA457449558CFTRc.2253C>A (p.Arg751=)
c.*1967C>A (n.*1967C>A)
c.2070C>A (p.Arg690=)
c.*553C>A (n.*553C>A)
c.*2077C>A (n.*2077C>A)
c.1827C>A (p.Arg609=)
c.1402-10406C>A (n.1402-10406C>A)
c.2163C>A (p.Arg721=)
c.2343C>A (p.Arg781=)
c.2010C>A (p.Arg670=)
7g.117592420C=CA1737395110CFTRc.2253C= (p.Arg751=)
c.*1967C= (n.*1967C=)
c.2070C= (p.Arg690=)
c.*553C= (n.*553C=)
c.*2077C= (n.*2077C=)
c.1827C= (p.Arg609=)
c.1402-10406C= (n.1402-10406C=)
c.2163C= (p.Arg721=)
c.2343C= (p.Arg781=)
c.2010C= (p.Arg670=)
7g.117592420C>GCA457449559CFTRc.2253C>G (p.Arg751=)
c.*1967C>G (n.*1967C>G)
c.2070C>G (p.Arg690=)
c.*553C>G (n.*553C>G)
c.*2077C>G (n.*2077C>G)
c.1827C>G (p.Arg609=)
c.1402-10406C>G (n.1402-10406C>G)
c.2163C>G (p.Arg721=)
c.2343C>G (p.Arg781=)
c.2010C>G (p.Arg670=)
7g.117592420C>TCA4451161CFTRc.2253C>T (p.Arg751=)
c.*1967C>T (n.*1967C>T)
c.2070C>T (p.Arg690=)
c.*553C>T (n.*553C>T)
c.*2077C>T (n.*2077C>T)
c.1827C>T (p.Arg609=)
c.1402-10406C>T (n.1402-10406C>T)
c.2163C>T (p.Arg721=)
c.2343C>T (p.Arg781=)
c.2010C>T (p.Arg670=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117592421A>CCA368980659CFTRc.2254A>C (p.Ile752Leu)
c.*1968A>C (n.*1968A>C)
c.2071A>C (p.Ile691Leu)
c.*554A>C (n.*554A>C)
c.*2078A>C (n.*2078A>C)
c.1828A>C (p.Ile610Leu)
c.1402-10405A>C (n.1402-10405A>C)
c.2164A>C (p.Ile722Leu)
c.2344A>C (p.Ile782Leu)
c.2011A>C (p.Ile671Leu)
 ClinVar gnomAD v4
7g.117592421A>GCA368980653CFTRc.2254A>G (p.Ile752Val)
c.*1968A>G (n.*1968A>G)
c.2071A>G (p.Ile691Val)
c.*554A>G (n.*554A>G)
c.*2078A>G (n.*2078A>G)
c.1828A>G (p.Ile610Val)
c.1402-10405A>G (n.1402-10405A>G)
c.2164A>G (p.Ile722Val)
c.2344A>G (p.Ile782Val)
c.2011A>G (p.Ile671Val)
7g.117592421A>TCA368980656CFTRc.2254A>T (p.Ile752Phe)
c.*1968A>T (n.*1968A>T)
c.2071A>T (p.Ile691Phe)
c.*554A>T (n.*554A>T)
c.*2078A>T (n.*2078A>T)
c.1828A>T (p.Ile610Phe)
c.1402-10405A>T (n.1402-10405A>T)
c.2164A>T (p.Ile722Phe)
c.2344A>T (p.Ile782Phe)
c.2011A>T (p.Ile671Phe)
 ClinVar
7g.117592422T>ACA368980663CFTRc.2255T>A (p.Ile752Asn)
c.*1969T>A (n.*1969T>A)
c.2072T>A (p.Ile691Asn)
c.*555T>A (n.*555T>A)
c.*2079T>A (n.*2079T>A)
c.1829T>A (p.Ile610Asn)
c.1402-10404T>A (n.1402-10404T>A)
c.2165T>A (p.Ile722Asn)
c.2345T>A (p.Ile782Asn)
c.2012T>A (p.Ile671Asn)
7g.117592422T>CCA368980666CFTRc.2255T>C (p.Ile752Thr)
c.*1969T>C (n.*1969T>C)
c.2072T>C (p.Ile691Thr)
c.*555T>C (n.*555T>C)
c.*2079T>C (n.*2079T>C)
c.1829T>C (p.Ile610Thr)
c.1402-10404T>C (n.1402-10404T>C)
c.2165T>C (p.Ile722Thr)
c.2345T>C (p.Ile782Thr)
c.2012T>C (p.Ile671Thr)
 dbSNP
7g.117592422T>GCA4451162CFTRc.2255T>G (p.Ile752Ser)
c.*1969T>G (n.*1969T>G)
c.2072T>G (p.Ile691Ser)
c.*555T>G (n.*555T>G)
c.*2079T>G (n.*2079T>G)
c.1829T>G (p.Ile610Ser)
c.1402-10404T>G (n.1402-10404T>G)
c.2165T>G (p.Ile722Ser)
c.2345T>G (p.Ile782Ser)
c.2012T>G (p.Ile671Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117592422T=CA1737395114CFTRc.2255T= (p.Ile752=)
c.*1969T= (n.*1969T=)
c.2072T= (p.Ile691=)
c.*555T= (n.*555T=)
c.*2079T= (n.*2079T=)
c.1829T= (p.Ile610=)
c.1402-10404T= (n.1402-10404T=)
c.2165T= (p.Ile722=)
c.2345T= (p.Ile782=)
c.2012T= (p.Ile671=)
7g.117592423C>ACA457449566CFTRc.2256C>A (p.Ile752=)
c.*1970C>A (n.*1970C>A)
c.2073C>A (p.Ile691=)
c.*556C>A (n.*556C>A)
c.*2080C>A (n.*2080C>A)
c.1830C>A (p.Ile610=)
c.1402-10403C>A (n.1402-10403C>A)
c.2166C>A (p.Ile722=)
c.2346C>A (p.Ile782=)
c.2013C>A (p.Ile671=)
 gnomAD v4
7g.117592423C>GCA368980670CFTRc.2256C>G (p.Ile752Met)
c.*1970C>G (n.*1970C>G)
c.2073C>G (p.Ile691Met)
c.*556C>G (n.*556C>G)
c.*2080C>G (n.*2080C>G)
c.1830C>G (p.Ile610Met)
c.1402-10403C>G (n.1402-10403C>G)
c.2166C>G (p.Ile722Met)
c.2346C>G (p.Ile782Met)
c.2013C>G (p.Ile671Met)
7g.117592423C>TCA457449569CFTRc.2256C>T (p.Ile752=)
c.*1970C>T (n.*1970C>T)
c.2073C>T (p.Ile691=)
c.*556C>T (n.*556C>T)
c.*2080C>T (n.*2080C>T)
c.1830C>T (p.Ile610=)
c.1402-10403C>T (n.1402-10403C>T)
c.2166C>T (p.Ile722=)
c.2346C>T (p.Ile782=)
c.2013C>T (p.Ile671=)
7g.117592424A=CA1737395123CFTRc.2257A= (p.Ser753=)
c.*1971A= (n.*1971A=)
c.2074A= (p.Ser692=)
c.*557A= (n.*557A=)
c.*2081A= (n.*2081A=)
c.1831A= (p.Ser611=)
c.1402-10402A= (n.1402-10402A=)
c.2167A= (p.Ser723=)
c.2347A= (p.Ser783=)
c.2014A= (p.Ser672=)
7g.117592424A>CCA368980673CFTRc.2257A>C (p.Ser753Arg)
c.*1971A>C (n.*1971A>C)
c.2074A>C (p.Ser692Arg)
c.*557A>C (n.*557A>C)
c.*2081A>C (n.*2081A>C)
c.1831A>C (p.Ser611Arg)
c.1402-10402A>C (n.1402-10402A>C)
c.2167A>C (p.Ser723Arg)
c.2347A>C (p.Ser783Arg)
c.2014A>C (p.Ser672Arg)
7g.117592424A>GCA368980675CFTRc.2257A>G (p.Ser753Gly)
c.*1971A>G (n.*1971A>G)
c.2074A>G (p.Ser692Gly)
c.*557A>G (n.*557A>G)
c.*2081A>G (n.*2081A>G)
c.1831A>G (p.Ser611Gly)
c.1402-10402A>G (n.1402-10402A>G)
c.2167A>G (p.Ser723Gly)
c.2347A>G (p.Ser783Gly)
c.2014A>G (p.Ser672Gly)
 dbSNP gnomAD v2 gnomAD v4
7g.117592424A>TCA368980676CFTRc.2257A>T (p.Ser753Cys)
c.*1971A>T (n.*1971A>T)
c.2074A>T (p.Ser692Cys)
c.*557A>T (n.*557A>T)
c.*2081A>T (n.*2081A>T)
c.1831A>T (p.Ser611Cys)
c.1402-10402A>T (n.1402-10402A>T)
c.2167A>T (p.Ser723Cys)
c.2347A>T (p.Ser783Cys)
c.2014A>T (p.Ser672Cys)
7g.117592425G>ACA4451163CFTRc.2258G>A (p.Ser753Asn)
c.*1972G>A (n.*1972G>A)
c.2075G>A (p.Ser692Asn)
c.*558G>A (n.*558G>A)
c.*2082G>A (n.*2082G>A)
c.1832G>A (p.Ser611Asn)
c.1402-10401G>A (n.1402-10401G>A)
c.2168G>A (p.Ser723Asn)
c.2348G>A (p.Ser783Asn)
c.2015G>A (p.Ser672Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.117592425G>CCA368980681CFTRc.2258G>C (p.Ser753Thr)
c.*1972G>C (n.*1972G>C)
c.2075G>C (p.Ser692Thr)
c.*558G>C (n.*558G>C)
c.*2082G>C (n.*2082G>C)
c.1832G>C (p.Ser611Thr)
c.1402-10401G>C (n.1402-10401G>C)
c.2168G>C (p.Ser723Thr)
c.2348G>C (p.Ser783Thr)
c.2015G>C (p.Ser672Thr)
 gnomAD v4
7g.117592425G=CA1737395126CFTRc.2258G= (p.Ser753=)
c.*1972G= (n.*1972G=)
c.2075G= (p.Ser692=)
c.*558G= (n.*558G=)
c.*2082G= (n.*2082G=)
c.1832G= (p.Ser611=)
c.1402-10401G= (n.1402-10401G=)
c.2168G= (p.Ser723=)
c.2348G= (p.Ser783=)
c.2015G= (p.Ser672=)
7g.117592425G>TCA368980683CFTRc.2258G>T (p.Ser753Ile)
c.*1972G>T (n.*1972G>T)
c.2075G>T (p.Ser692Ile)
c.*558G>T (n.*558G>T)
c.*2082G>T (n.*2082G>T)
c.1832G>T (p.Ser611Ile)
c.1402-10401G>T (n.1402-10401G>T)
c.2168G>T (p.Ser723Ile)
c.2348G>T (p.Ser783Ile)
c.2015G>T (p.Ser672Ile)
7g.117592426C>ACA368980689CFTRc.2259C>A (p.Ser753Arg)
c.*1973C>A (n.*1973C>A)
c.2076C>A (p.Ser692Arg)
c.*559C>A (n.*559C>A)
c.*2083C>A (n.*2083C>A)
c.1833C>A (p.Ser611Arg)
c.1402-10400C>A (n.1402-10400C>A)
c.2169C>A (p.Ser723Arg)
c.2349C>A (p.Ser783Arg)
c.2016C>A (p.Ser672Arg)
7g.117592426C=CA1737395133CFTRc.2259C= (p.Ser753=)
c.*1973C= (n.*1973C=)
c.2076C= (p.Ser692=)
c.*559C= (n.*559C=)
c.*2083C= (n.*2083C=)
c.1833C= (p.Ser611=)
c.1402-10400C= (n.1402-10400C=)
c.2169C= (p.Ser723=)
c.2349C= (p.Ser783=)
c.2016C= (p.Ser672=)
7g.117592426C>GCA326780CFTRc.2259C>G (p.Ser753Arg)
c.*1973C>G (n.*1973C>G)
c.2076C>G (p.Ser692Arg)
c.*559C>G (n.*559C>G)
c.*2083C>G (n.*2083C>G)
c.1833C>G (p.Ser611Arg)
c.1402-10400C>G (n.1402-10400C>G)
c.2169C>G (p.Ser723Arg)
c.2349C>G (p.Ser783Arg)
c.2016C>G (p.Ser672Arg)
 ClinVar dbSNP
7g.117592426C>TCA326782CFTRc.2259C>T (p.Ser753=)
c.*1973C>T (n.*1973C>T)
c.2076C>T (p.Ser692=)
c.*559C>T (n.*559C>T)
c.*2083C>T (n.*2083C>T)
c.1833C>T (p.Ser611=)
c.1402-10400C>T (n.1402-10400C>T)
c.2169C>T (p.Ser723=)
c.2349C>T (p.Ser783=)
c.2016C>T (p.Ser672=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
7g.117592427G>ACA326784CFTRc.2260G>A (p.Val754Met)
c.*1974G>A (n.*1974G>A)
c.2077G>A (p.Val693Met)
c.*560G>A (n.*560G>A)
c.*2084G>A (n.*2084G>A)
c.1834G>A (p.Val612Met)
c.1402-10399G>A (n.1402-10399G>A)
c.2170G>A (p.Val724Met)
c.2350G>A (p.Val784Met)
c.2017G>A (p.Val673Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117592427G>CCA368980697CFTRc.2260G>C (p.Val754Leu)
c.*1974G>C (n.*1974G>C)
c.2077G>C (p.Val693Leu)
c.*560G>C (n.*560G>C)
c.*2084G>C (n.*2084G>C)
c.1834G>C (p.Val612Leu)
c.1402-10399G>C (n.1402-10399G>C)
c.2170G>C (p.Val724Leu)
c.2350G>C (p.Val784Leu)
c.2017G>C (p.Val673Leu)
7g.117592427G=CA1737395143CFTRc.2260G= (p.Val754=)
c.*1974G= (n.*1974G=)
c.2077G= (p.Val693=)
c.*560G= (n.*560G=)
c.*2084G= (n.*2084G=)
c.1834G= (p.Val612=)
c.1402-10399G= (n.1402-10399G=)
c.2170G= (p.Val724=)
c.2350G= (p.Val784=)
c.2017G= (p.Val673=)
7g.117592427G>TCA368980696CFTRc.2260G>T (p.Val754Leu)
c.*1974G>T (n.*1974G>T)
c.2077G>T (p.Val693Leu)
c.*560G>T (n.*560G>T)
c.*2084G>T (n.*2084G>T)
c.1834G>T (p.Val612Leu)
c.1402-10399G>T (n.1402-10399G>T)
c.2170G>T (p.Val724Leu)
c.2350G>T (p.Val784Leu)
c.2017G>T (p.Val673Leu)
 dbSNP
7g.117592428delCA2573141691CFTRc.2261del (p.Val754GlyfsTer17)
c.*1975del (n.*1975del)
c.2078del (p.Val693GlyfsTer17)
c.*561del (n.*561del)
c.*2085del (n.*2085del)
c.1835del (p.Val612GlyfsTer17)
c.1402-10398del (n.1402-10398del)
c.2171del (p.Val724GlyfsTer17)
c.2351del (p.Val784GlyfsTer17)
c.2018del (p.Val673GlyfsTer17)
 ClinVar dbSNP
7g.117592428T>ACA368980701CFTRc.2261T>A (p.Val754Glu)
c.*1975T>A (n.*1975T>A)
c.2078T>A (p.Val693Glu)
c.*561T>A (n.*561T>A)
c.*2085T>A (n.*2085T>A)
c.1835T>A (p.Val612Glu)
c.1402-10398T>A (n.1402-10398T>A)
c.2171T>A (p.Val724Glu)
c.2351T>A (p.Val784Glu)
c.2018T>A (p.Val673Glu)
7g.117592428T>CCA368980703CFTRc.2261T>C (p.Val754Ala)
c.*1975T>C (n.*1975T>C)
c.2078T>C (p.Val693Ala)
c.*561T>C (n.*561T>C)
c.*2085T>C (n.*2085T>C)
c.1835T>C (p.Val612Ala)
c.1402-10398T>C (n.1402-10398T>C)
c.2171T>C (p.Val724Ala)
c.2351T>C (p.Val784Ala)
c.2018T>C (p.Val673Ala)
7g.117592428T>GCA368980705CFTRc.2261T>G (p.Val754Gly)
c.*1975T>G (n.*1975T>G)
c.2078T>G (p.Val693Gly)
c.*561T>G (n.*561T>G)
c.*2085T>G (n.*2085T>G)
c.1835T>G (p.Val612Gly)
c.1402-10398T>G (n.1402-10398T>G)
c.2171T>G (p.Val724Gly)
c.2351T>G (p.Val784Gly)
c.2018T>G (p.Val673Gly)
7g.117592429G>ACA457449578CFTRc.2262G>A (p.Val754=)
c.*1976G>A (n.*1976G>A)
c.2079G>A (p.Val693=)
c.*562G>A (n.*562G>A)
c.*2086G>A (n.*2086G>A)
c.1836G>A (p.Val612=)
c.1402-10397G>A (n.1402-10397G>A)
c.2172G>A (p.Val724=)
c.2352G>A (p.Val784=)
c.2019G>A (p.Val673=)
 COSMIC
7g.117592429G>CCA457449574CFTRc.2262G>C (p.Val754=)
c.*1976G>C (n.*1976G>C)
c.2079G>C (p.Val693=)
c.*562G>C (n.*562G>C)
c.*2086G>C (n.*2086G>C)
c.1836G>C (p.Val612=)
c.1402-10397G>C (n.1402-10397G>C)
c.2172G>C (p.Val724=)
c.2352G>C (p.Val784=)
c.2019G>C (p.Val673=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.117592429G=CA1737395150CFTRc.2262G= (p.Val754=)
c.*1976G= (n.*1976G=)
c.2079G= (p.Val693=)
c.*562G= (n.*562G=)
c.*2086G= (n.*2086G=)
c.1836G= (p.Val612=)
c.1402-10397G= (n.1402-10397G=)
c.2172G= (p.Val724=)
c.2352G= (p.Val784=)
c.2019G= (p.Val673=)
7g.117592429G>TCA457449575CFTRc.2262G>T (p.Val754=)
c.*1976G>T (n.*1976G>T)
c.2079G>T (p.Val693=)
c.*562G>T (n.*562G>T)
c.*2086G>T (n.*2086G>T)
c.1836G>T (p.Val612=)
c.1402-10397G>T (n.1402-10397G>T)
c.2172G>T (p.Val724=)
c.2352G>T (p.Val784=)
c.2019G>T (p.Val673=)
 ClinVar
7g.117592430A=CA1737395154CFTRc.2263A= (p.Ile755=)
c.*1977A= (n.*1977A=)
c.2080A= (p.Ile694=)
c.*563A= (n.*563A=)
c.*2087A= (n.*2087A=)
c.1837A= (p.Ile613=)
c.1402-10396A= (n.1402-10396A=)
c.2173A= (p.Ile725=)
c.2353A= (p.Ile785=)
c.2020A= (p.Ile674=)
7g.117592430A>CCA368980710CFTRc.2263A>C (p.Ile755Leu)
c.*1977A>C (n.*1977A>C)
c.2080A>C (p.Ile694Leu)
c.*563A>C (n.*563A>C)
c.*2087A>C (n.*2087A>C)
c.1837A>C (p.Ile613Leu)
c.1402-10396A>C (n.1402-10396A>C)
c.2173A>C (p.Ile725Leu)
c.2353A>C (p.Ile785Leu)
c.2020A>C (p.Ile674Leu)
7g.117592430A>GCA368980715CFTRc.2263A>G (p.Ile755Val)
c.*1977A>G (n.*1977A>G)
c.2080A>G (p.Ile694Val)
c.*563A>G (n.*563A>G)
c.*2087A>G (n.*2087A>G)
c.1837A>G (p.Ile613Val)
c.1402-10396A>G (n.1402-10396A>G)
c.2173A>G (p.Ile725Val)
c.2353A>G (p.Ile785Val)
c.2020A>G (p.Ile674Val)
7g.117592430A>TCA4451164CFTRc.2263A>T (p.Ile755Phe)
c.*1977A>T (n.*1977A>T)
c.2080A>T (p.Ile694Phe)
c.*563A>T (n.*563A>T)
c.*2087A>T (n.*2087A>T)
c.1837A>T (p.Ile613Phe)
c.1402-10396A>T (n.1402-10396A>T)
c.2173A>T (p.Ile725Phe)
c.2353A>T (p.Ile785Phe)
c.2020A>T (p.Ile674Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.117592431T>ACA368980718CFTRc.2264T>A (p.Ile755Asn)
c.*1978T>A (n.*1978T>A)
c.2081T>A (p.Ile694Asn)
c.*564T>A (n.*564T>A)
c.*2088T>A (n.*2088T>A)
c.1838T>A (p.Ile613Asn)
c.1402-10395T>A (n.1402-10395T>A)
c.2174T>A (p.Ile725Asn)
c.2354T>A (p.Ile785Asn)
c.2021T>A (p.Ile674Asn)
7g.117592431T>CCA368980720CFTRc.2264T>C (p.Ile755Thr)
c.*1978T>C (n.*1978T>C)
c.2081T>C (p.Ile694Thr)
c.*564T>C (n.*564T>C)
c.*2088T>C (n.*2088T>C)
c.1838T>C (p.Ile613Thr)
c.1402-10395T>C (n.1402-10395T>C)
c.2174T>C (p.Ile725Thr)
c.2354T>C (p.Ile785Thr)
c.2021T>C (p.Ile674Thr)
7g.117592431T>GCA368980723CFTRc.2264T>G (p.Ile755Ser)
c.*1978T>G (n.*1978T>G)
c.2081T>G (p.Ile694Ser)
c.*564T>G (n.*564T>G)
c.*2088T>G (n.*2088T>G)
c.1838T>G (p.Ile613Ser)
c.1402-10395T>G (n.1402-10395T>G)
c.2174T>G (p.Ile725Ser)
c.2354T>G (p.Ile785Ser)
c.2021T>G (p.Ile674Ser)
7g.117592432C>ACA457449584CFTRc.2265C>A (p.Ile755=)
c.*1979C>A (n.*1979C>A)
c.2082C>A (p.Ile694=)
c.*565C>A (n.*565C>A)
c.*2089C>A (n.*2089C>A)
c.1839C>A (p.Ile613=)
c.1402-10394C>A (n.1402-10394C>A)
c.2175C>A (p.Ile725=)
c.2355C>A (p.Ile785=)
c.2022C>A (p.Ile674=)
7g.117592432C>GCA368980725CFTRc.2265C>G (p.Ile755Met)
c.*1979C>G (n.*1979C>G)
c.2082C>G (p.Ile694Met)
c.*565C>G (n.*565C>G)
c.*2089C>G (n.*2089C>G)
c.1839C>G (p.Ile613Met)
c.1402-10394C>G (n.1402-10394C>G)
c.2175C>G (p.Ile725Met)
c.2355C>G (p.Ile785Met)
c.2022C>G (p.Ile674Met)
7g.117592432C>TCA457449586CFTRc.2265C>T (p.Ile755=)
c.*1979C>T (n.*1979C>T)
c.2082C>T (p.Ile694=)
c.*565C>T (n.*565C>T)
c.*2089C>T (n.*2089C>T)
c.1839C>T (p.Ile613=)
c.1402-10394C>T (n.1402-10394C>T)
c.2175C>T (p.Ile725=)
c.2355C>T (p.Ile785=)
c.2022C>T (p.Ile674=)
7g.117592433A=CA1737395157CFTRc.2266A= (p.Ser756=)
c.*1980A= (n.*1980A=)
c.2083A= (p.Ser695=)
c.*566A= (n.*566A=)
c.*2090A= (n.*2090A=)
c.1840A= (p.Ser614=)
c.1402-10393A= (n.1402-10393A=)
c.2176A= (p.Ser726=)
c.2356A= (p.Ser786=)
c.2023A= (p.Ser675=)
7g.117592433A>CCA368980729CFTRc.2266A>C (p.Ser756Arg)
c.*1980A>C (n.*1980A>C)
c.2083A>C (p.Ser695Arg)
c.*566A>C (n.*566A>C)
c.*2090A>C (n.*2090A>C)
c.1840A>C (p.Ser614Arg)
c.1402-10393A>C (n.1402-10393A>C)
c.2176A>C (p.Ser726Arg)
c.2356A>C (p.Ser786Arg)
c.2023A>C (p.Ser675Arg)
7g.117592433A>GCA368980730CFTRc.2266A>G (p.Ser756Gly)
c.*1980A>G (n.*1980A>G)
c.2083A>G (p.Ser695Gly)
c.*566A>G (n.*566A>G)
c.*2090A>G (n.*2090A>G)
c.1840A>G (p.Ser614Gly)
c.1402-10393A>G (n.1402-10393A>G)
c.2176A>G (p.Ser726Gly)
c.2356A>G (p.Ser786Gly)
c.2023A>G (p.Ser675Gly)
7g.117592433A>TCA368980732CFTRc.2266A>T (p.Ser756Cys)
c.*1980A>T (n.*1980A>T)
c.2083A>T (p.Ser695Cys)
c.*566A>T (n.*566A>T)
c.*2090A>T (n.*2090A>T)
c.1840A>T (p.Ser614Cys)
c.1402-10393A>T (n.1402-10393A>T)
c.2176A>T (p.Ser726Cys)
c.2356A>T (p.Ser786Cys)
c.2023A>T (p.Ser675Cys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.117592434G>ACA368980736CFTRc.2267G>A (p.Ser756Asn)
c.*1981G>A (n.*1981G>A)
c.2084G>A (p.Ser695Asn)
c.*567G>A (n.*567G>A)
c.*2091G>A (n.*2091G>A)
c.1841G>A (p.Ser614Asn)
c.1402-10392G>A (n.1402-10392G>A)
c.2177G>A (p.Ser726Asn)
c.2357G>A (p.Ser786Asn)
c.2024G>A (p.Ser675Asn)
 ClinVar gnomAD v4
7g.117592434G>CCA368980741CFTRc.2267G>C (p.Ser756Thr)
c.*1981G>C (n.*1981G>C)
c.2084G>C (p.Ser695Thr)
c.*567G>C (n.*567G>C)
c.*2091G>C (n.*2091G>C)
c.1841G>C (p.Ser614Thr)
c.1402-10392G>C (n.1402-10392G>C)
c.2177G>C (p.Ser726Thr)
c.2357G>C (p.Ser786Thr)
c.2024G>C (p.Ser675Thr)
7g.117592434G>TCA368980738CFTRc.2267G>T (p.Ser756Ile)
c.*1981G>T (n.*1981G>T)
c.2084G>T (p.Ser695Ile)
c.*567G>T (n.*567G>T)
c.*2091G>T (n.*2091G>T)
c.1841G>T (p.Ser614Ile)
c.1402-10392G>T (n.1402-10392G>T)
c.2177G>T (p.Ser726Ile)
c.2357G>T (p.Ser786Ile)
c.2024G>T (p.Ser675Ile)
 ClinVar gnomAD v4
7g.117592435C>ACA368980744CFTRc.2268C>A (p.Ser756Arg)
c.*1982C>A (n.*1982C>A)
c.2085C>A (p.Ser695Arg)
c.*568C>A (n.*568C>A)
c.*2092C>A (n.*2092C>A)
c.1842C>A (p.Ser614Arg)
c.1402-10391C>A (n.1402-10391C>A)
c.2178C>A (p.Ser726Arg)
c.2358C>A (p.Ser786Arg)
c.2025C>A (p.Ser675Arg)
7g.117592435C>GCA368980746CFTRc.2268C>G (p.Ser756Arg)
c.*1982C>G (n.*1982C>G)
c.2085C>G (p.Ser695Arg)
c.*568C>G (n.*568C>G)
c.*2092C>G (n.*2092C>G)
c.1842C>G (p.Ser614Arg)
c.1402-10391C>G (n.1402-10391C>G)
c.2178C>G (p.Ser726Arg)
c.2358C>G (p.Ser786Arg)
c.2025C>G (p.Ser675Arg)
7g.117592435C>TCA457449598CFTRc.2268C>T (p.Ser756=)
c.*1982C>T (n.*1982C>T)
c.2085C>T (p.Ser695=)
c.*568C>T (n.*568C>T)
c.*2092C>T (n.*2092C>T)
c.1842C>T (p.Ser614=)
c.1402-10391C>T (n.1402-10391C>T)
c.2178C>T (p.Ser726=)
c.2358C>T (p.Ser786=)
c.2025C>T (p.Ser675=)
7g.117592436A=CA1737395159CFTRc.2269A= (p.Thr757=)
c.*1983A= (n.*1983A=)
c.2086A= (p.Thr696=)
c.*569A= (n.*569A=)
c.*2093A= (n.*2093A=)
c.1843A= (p.Thr615=)
c.1402-10390A= (n.1402-10390A=)
c.2179A= (p.Thr727=)
c.2359A= (p.Thr787=)
c.2026A= (p.Thr676=)
7g.117592436A>CCA368980750CFTRc.2269A>C (p.Thr757Pro)
c.*1983A>C (n.*1983A>C)
c.2086A>C (p.Thr696Pro)
c.*569A>C (n.*569A>C)
c.*2093A>C (n.*2093A>C)
c.1843A>C (p.Thr615Pro)
c.1402-10390A>C (n.1402-10390A>C)
c.2179A>C (p.Thr727Pro)
c.2359A>C (p.Thr787Pro)
c.2026A>C (p.Thr676Pro)
7g.117592436A>GCA368980751CFTRc.2269A>G (p.Thr757Ala)
c.*1983A>G (n.*1983A>G)
c.2086A>G (p.Thr696Ala)
c.*569A>G (n.*569A>G)
c.*2093A>G (n.*2093A>G)
c.1843A>G (p.Thr615Ala)
c.1402-10390A>G (n.1402-10390A>G)
c.2179A>G (p.Thr727Ala)
c.2359A>G (p.Thr787Ala)
c.2026A>G (p.Thr676Ala)
 dbSNP gnomAD v3 gnomAD v4
7g.117592436A>TCA368980753CFTRc.2269A>T (p.Thr757Ser)
c.*1983A>T (n.*1983A>T)
c.2086A>T (p.Thr696Ser)
c.*569A>T (n.*569A>T)
c.*2093A>T (n.*2093A>T)
c.1843A>T (p.Thr615Ser)
c.1402-10390A>T (n.1402-10390A>T)
c.2179A>T (p.Thr727Ser)
c.2359A>T (p.Thr787Ser)
c.2026A>T (p.Thr676Ser)
7g.117592437C>ACA368980754CFTRc.2270C>A (p.Thr757Asn)
c.*1984C>A (n.*1984C>A)
c.2087C>A (p.Thr696Asn)
c.*570C>A (n.*570C>A)
c.*2094C>A (n.*2094C>A)
c.1844C>A (p.Thr615Asn)
c.1402-10389C>A (n.1402-10389C>A)
c.2180C>A (p.Thr727Asn)
c.2360C>A (p.Thr787Asn)
c.2027C>A (p.Thr676Asn)
7g.117592437C=CA1737395161CFTRc.2270C= (p.Thr757=)
c.*1984C= (n.*1984C=)
c.2087C= (p.Thr696=)
c.*570C= (n.*570C=)
c.*2094C= (n.*2094C=)
c.1844C= (p.Thr615=)
c.1402-10389C= (n.1402-10389C=)
c.2180C= (p.Thr727=)
c.2360C= (p.Thr787=)
c.2027C= (p.Thr676=)
7g.117592437C>GCA368980756CFTRc.2270C>G (p.Thr757Ser)
c.*1984C>G (n.*1984C>G)
c.2087C>G (p.Thr696Ser)
c.*570C>G (n.*570C>G)
c.*2094C>G (n.*2094C>G)
c.1844C>G (p.Thr615Ser)
c.1402-10389C>G (n.1402-10389C>G)
c.2180C>G (p.Thr727Ser)
c.2360C>G (p.Thr787Ser)
c.2027C>G (p.Thr676Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.117592437C>TCA368980758CFTRc.2270C>T (p.Thr757Ile)
c.*1984C>T (n.*1984C>T)
c.2087C>T (p.Thr696Ile)
c.*570C>T (n.*570C>T)
c.*2094C>T (n.*2094C>T)
c.1844C>T (p.Thr615Ile)
c.1402-10389C>T (n.1402-10389C>T)
c.2180C>T (p.Thr727Ile)
c.2360C>T (p.Thr787Ile)
c.2027C>T (p.Thr676Ile)
 ClinVar
7g.117592438T>ACA457449605CFTRc.2271T>A (p.Thr757=)
c.*1985T>A (n.*1985T>A)
c.2088T>A (p.Thr696=)
c.*571T>A (n.*571T>A)
c.*2095T>A (n.*2095T>A)
c.1845T>A (p.Thr615=)
c.1402-10388T>A (n.1402-10388T>A)
c.2181T>A (p.Thr727=)
c.2361T>A (p.Thr787=)
c.2028T>A (p.Thr676=)
7g.117592438T>CCA457449608CFTRc.2271T>C (p.Thr757=)
c.*1985T>C (n.*1985T>C)
c.2088T>C (p.Thr696=)
c.*571T>C (n.*571T>C)
c.*2095T>C (n.*2095T>C)
c.1845T>C (p.Thr615=)
c.1402-10388T>C (n.1402-10388T>C)
c.2181T>C (p.Thr727=)
c.2361T>C (p.Thr787=)
c.2028T>C (p.Thr676=)
7g.117592438T>GCA457449609CFTRc.2271T>G (p.Thr757=)
c.*1985T>G (n.*1985T>G)
c.2088T>G (p.Thr696=)
c.*571T>G (n.*571T>G)
c.*2095T>G (n.*2095T>G)
c.1845T>G (p.Thr615=)
c.1402-10388T>G (n.1402-10388T>G)
c.2181T>G (p.Thr727=)
c.2361T>G (p.Thr787=)
c.2028T>G (p.Thr676=)
7g.117592439G>ACA368980761CFTRc.2272G>A (p.Gly758Ser)
c.*1986G>A (n.*1986G>A)
c.2089G>A (p.Gly697Ser)
c.*572G>A (n.*572G>A)
c.*2096G>A (n.*2096G>A)
c.1846G>A (p.Gly616Ser)
c.1402-10387G>A (n.1402-10387G>A)
c.2182G>A (p.Gly728Ser)
c.2362G>A (p.Gly788Ser)
c.2029G>A (p.Gly677Ser)
7g.117592439G>CCA368980763CFTRc.2272G>C (p.Gly758Arg)
c.*1986G>C (n.*1986G>C)
c.2089G>C (p.Gly697Arg)
c.*572G>C (n.*572G>C)
c.*2096G>C (n.*2096G>C)
c.1846G>C (p.Gly616Arg)
c.1402-10387G>C (n.1402-10387G>C)
c.2182G>C (p.Gly728Arg)
c.2362G>C (p.Gly788Arg)
c.2029G>C (p.Gly677Arg)
7g.117592439G>TCA368980765CFTRc.2272G>T (p.Gly758Cys)
c.*1986G>T (n.*1986G>T)
c.2089G>T (p.Gly697Cys)
c.*572G>T (n.*572G>T)
c.*2096G>T (n.*2096G>T)
c.1846G>T (p.Gly616Cys)
c.1402-10387G>T (n.1402-10387G>T)
c.2182G>T (p.Gly728Cys)
c.2362G>T (p.Gly788Cys)
c.2029G>T (p.Gly677Cys)
7g.117592440G>ACA368980770CFTRc.2273G>A (p.Gly758Asp)
c.*1987G>A (n.*1987G>A)
c.2090G>A (p.Gly697Asp)
c.*573G>A (n.*573G>A)
c.*2097G>A (n.*2097G>A)
c.1847G>A (p.Gly616Asp)
c.1402-10386G>A (n.1402-10386G>A)
c.2183G>A (p.Gly728Asp)
c.2363G>A (p.Gly788Asp)
c.2030G>A (p.Gly677Asp)
7g.117592440G>CCA368980773CFTRc.2273G>C (p.Gly758Ala)
c.*1987G>C (n.*1987G>C)
c.2090G>C (p.Gly697Ala)
c.*573G>C (n.*573G>C)
c.*2097G>C (n.*2097G>C)
c.1847G>C (p.Gly616Ala)
c.1402-10386G>C (n.1402-10386G>C)
c.2183G>C (p.Gly728Ala)
c.2363G>C (p.Gly788Ala)
c.2030G>C (p.Gly677Ala)
7g.117592440G>TCA368980768CFTRc.2273G>T (p.Gly758Val)
c.*1987G>T (n.*1987G>T)
c.2090G>T (p.Gly697Val)
c.*573G>T (n.*573G>T)
c.*2097G>T (n.*2097G>T)
c.1847G>T (p.Gly616Val)
c.1402-10386G>T (n.1402-10386G>T)
c.2183G>T (p.Gly728Val)
c.2363G>T (p.Gly788Val)
c.2030G>T (p.Gly677Val)
7g.117592440_117592442delinsGCCCA1737395164CFTRc.2273_2275delinsGCC (p.Gly758=)
c.*1987_*1989delinsGCC (n.*1987_*1989delinsGCC)
c.2090_2092delinsGCC (p.Gly697=)
c.*573_*575delinsGCC (n.*573_*575delinsGCC)
c.*2097_*2099delinsGCC (n.*2097_*2099delinsGCC)
c.1847_1849delinsGCC (p.Gly616=)
c.1402-10386_1402-10384delinsGCC (n.1402-10386_1402-10384delinsGCC)
c.2183_2185delinsGCC (p.Gly728=)
c.2363_2365delinsGCC (p.Gly788=)
c.2030_2032delinsGCC (p.Gly677=)
7g.117592440_117592456delinsGCCCCACGCTTCAGGCACA1737395165CFTRc.2273_2289delinsGCCCCACGCTTCAGGCA (p.Gly758=)
c.*1987_*2003delinsGCCCCACGCTTCAGGCA (n.*1987_*2003delinsGCCCCACGCTTCAGGCA)
c.2090_2106delinsGCCCCACGCTTCAGGCA (p.Gly697=)
c.*573_*589delinsGCCCCACGCTTCAGGCA (n.*573_*589delinsGCCCCACGCTTCAGGCA)
c.*2097_*2113delinsGCCCCACGCTTCAGGCA (n.*2097_*2113delinsGCCCCACGCTTCAGGCA)
c.1847_1863delinsGCCCCACGCTTCAGGCA (p.Gly616=)
c.1402-10386_1402-10370delinsGCCCCACGCTTCAGGCA (n.1402-10386_1402-10370delinsGCCCCACGCTTCAGGCA)
c.2183_2199delinsGCCCCACGCTTCAGGCA (p.Gly728=)
c.2363_2379delinsGCCCCACGCTTCAGGCA (p.Gly788=)
c.2030_2046delinsGCCCCACGCTTCAGGCA (p.Gly677=)
7g.117592441C>ACA457449610CFTRc.2274C>A (p.Gly758=)
c.*1988C>A (n.*1988C>A)
c.2091C>A (p.Gly697=)
c.*574C>A (n.*574C>A)
c.*2098C>A (n.*2098C>A)
c.1848C>A (p.Gly616=)
c.1402-10385C>A (n.1402-10385C>A)
c.2184C>A (p.Gly728=)
c.2364C>A (p.Gly788=)
c.2031C>A (p.Gly677=)
 gnomAD v4
7g.117592441C>GCA457449612CFTRc.2274C>G (p.Gly758=)
c.*1988C>G (n.*1988C>G)
c.2091C>G (p.Gly697=)
c.*574C>G (n.*574C>G)
c.*2098C>G (n.*2098C>G)
c.1848C>G (p.Gly616=)
c.1402-10385C>G (n.1402-10385C>G)
c.2184C>G (p.Gly728=)
c.2364C>G (p.Gly788=)
c.2031C>G (p.Gly677=)
7g.117592441C>TCA457449613CFTRc.2274C>T (p.Gly758=)
c.*1988C>T (n.*1988C>T)
c.2091C>T (p.Gly697=)
c.*574C>T (n.*574C>T)
c.*2098C>T (n.*2098C>T)
c.1848C>T (p.Gly616=)
c.1402-10385C>T (n.1402-10385C>T)
c.2184C>T (p.Gly728=)
c.2364C>T (p.Gly788=)
c.2031C>T (p.Gly677=)
7g.117592443_117592444delCA326785CFTRc.2276_2277del (p.Pro759HisfsTer19)
c.*1990_*1991del (n.*1990_*1991del)
c.2093_2094del (p.Pro698HisfsTer19)
c.*576_*577del (n.*576_*577del)
c.*2100_*2101del (n.*2100_*2101del)
c.1850_1851del (p.Pro617HisfsTer19)
c.1402-10383_1402-10382del (n.1402-10383_1402-10382del)
c.2186_2187del (p.Pro729HisfsTer19)
c.2366_2367del (p.Pro789HisfsTer19)
c.2033_2034del (p.Pro678HisfsTer19)
 dbSNP
7g.117592442_117592457delCA577680772CFTRc.2275_2290del (p.Pro759GlufsTer7)
c.*1989_*2004del (n.*1989_*2004del)
c.2092_2107del (p.Pro698GlufsTer7)
c.*575_*590del (n.*575_*590del)
c.*2099_*2114del (n.*2099_*2114del)
c.1849_1864del (p.Pro617GlufsTer7)
c.1402-10384_1402-10369del (n.1402-10384_1402-10369del)
c.2185_2200del (p.Pro729GlufsTer7)
c.2365_2380del (p.Pro789GlufsTer7)
c.2032_2047del (p.Pro678GlufsTer7)
 dbSNP gnomAD v2 gnomAD v4
7g.117592442C>ACA368980778CFTRc.2275C>A (p.Pro759Thr)
c.*1989C>A (n.*1989C>A)
c.2092C>A (p.Pro698Thr)
c.*575C>A (n.*575C>A)
c.*2099C>A (n.*2099C>A)
c.1849C>A (p.Pro617Thr)
c.1402-10384C>A (n.1402-10384C>A)
c.2185C>A (p.Pro729Thr)
c.2365C>A (p.Pro789Thr)
c.2032C>A (p.Pro678Thr)
 ClinVar dbSNP
7g.117592442C=CA1737395168CFTRc.2275C= (p.Pro759=)
c.*1989C= (n.*1989C=)
c.2092C= (p.Pro698=)
c.*575C= (n.*575C=)
c.*2099C= (n.*2099C=)
c.1849C= (p.Pro617=)
c.1402-10384C= (n.1402-10384C=)
c.2185C= (p.Pro729=)
c.2365C= (p.Pro789=)
c.2032C= (p.Pro678=)
7g.117592442C>GCA368980782CFTRc.2275C>G (p.Pro759Ala)
c.*1989C>G (n.*1989C>G)
c.2092C>G (p.Pro698Ala)
c.*575C>G (n.*575C>G)
c.*2099C>G (n.*2099C>G)
c.1849C>G (p.Pro617Ala)
c.1402-10384C>G (n.1402-10384C>G)
c.2185C>G (p.Pro729Ala)
c.2365C>G (p.Pro789Ala)
c.2032C>G (p.Pro678Ala)
7g.117592442C>TCA368980780CFTRc.2275C>T (p.Pro759Ser)
c.*1989C>T (n.*1989C>T)
c.2092C>T (p.Pro698Ser)
c.*575C>T (n.*575C>T)
c.*2099C>T (n.*2099C>T)
c.1849C>T (p.Pro617Ser)
c.1402-10384C>T (n.1402-10384C>T)
c.2185C>T (p.Pro729Ser)
c.2365C>T (p.Pro789Ser)
c.2032C>T (p.Pro678Ser)
7g.117592443C>ACA368980785CFTRc.2276C>A (p.Pro759His)
c.*1990C>A (n.*1990C>A)
c.2093C>A (p.Pro698His)
c.*576C>A (n.*576C>A)
c.*2100C>A (n.*2100C>A)
c.1850C>A (p.Pro617His)
c.1402-10383C>A (n.1402-10383C>A)
c.2186C>A (p.Pro729His)
c.2366C>A (p.Pro789His)
c.2033C>A (p.Pro678His)
7g.117592443C>GCA368980788CFTRc.2276C>G (p.Pro759Arg)
c.*1990C>G (n.*1990C>G)
c.2093C>G (p.Pro698Arg)
c.*576C>G (n.*576C>G)
c.*2100C>G (n.*2100C>G)
c.1850C>G (p.Pro617Arg)
c.1402-10383C>G (n.1402-10383C>G)
c.2186C>G (p.Pro729Arg)
c.2366C>G (p.Pro789Arg)
c.2033C>G (p.Pro678Arg)
7g.117592443C>TCA368980791CFTRc.2276C>T (p.Pro759Leu)
c.*1990C>T (n.*1990C>T)
c.2093C>T (p.Pro698Leu)
c.*576C>T (n.*576C>T)
c.*2100C>T (n.*2100C>T)
c.1850C>T (p.Pro617Leu)
c.1402-10383C>T (n.1402-10383C>T)
c.2186C>T (p.Pro729Leu)
c.2366C>T (p.Pro789Leu)
c.2033C>T (p.Pro678Leu)
7g.117592443_117592444insTGTCA2684619361CFTRc.2276_2277insTGT (p.Pro759_Thr760insVal)
c.*1990_*1991insTGT (n.*1990_*1991insTGT)
c.2093_2094insTGT (p.Pro698_Thr699insVal)
c.*576_*577insTGT (n.*576_*577insTGT)
c.*2100_*2101insTGT (n.*2100_*2101insTGT)
c.1850_1851insTGT (p.Pro617_Thr618insVal)
c.1402-10383_1402-10382insTGT (n.1402-10383_1402-10382insTGT)
c.2186_2187insTGT (p.Pro729_Thr730insVal)
c.2366_2367insTGT (p.Pro789_Thr790insVal)
c.2033_2034insTGT (p.Pro678_Thr679insVal)
 gnomAD v4
7g.117592444C>ACA457449622CFTRc.2277C>A (p.Pro759=)
c.*1991C>A (n.*1991C>A)
c.2094C>A (p.Pro698=)
c.*577C>A (n.*577C>A)
c.*2101C>A (n.*2101C>A)
c.1851C>A (p.Pro617=)
c.1402-10382C>A (n.1402-10382C>A)
c.2187C>A (p.Pro729=)
c.2367C>A (p.Pro789=)
c.2034C>A (p.Pro678=)
7g.117592444C>GCA457449624CFTRc.2277C>G (p.Pro759=)
c.*1991C>G (n.*1991C>G)
c.2094C>G (p.Pro698=)
c.*577C>G (n.*577C>G)
c.*2101C>G (n.*2101C>G)
c.1851C>G (p.Pro617=)
c.1402-10382C>G (n.1402-10382C>G)
c.2187C>G (p.Pro729=)
c.2367C>G (p.Pro789=)
c.2034C>G (p.Pro678=)
7g.117592444C>TCA457449627CFTRc.2277C>T (p.Pro759=)
c.*1991C>T (n.*1991C>T)
c.2094C>T (p.Pro698=)
c.*577C>T (n.*577C>T)
c.*2101C>T (n.*2101C>T)
c.1851C>T (p.Pro617=)
c.1402-10382C>T (n.1402-10382C>T)
c.2187C>T (p.Pro729=)
c.2367C>T (p.Pro789=)
c.2034C>T (p.Pro678=)
7g.117592445A>CCA368980799CFTRc.2278A>C (p.Thr760Pro)
c.*1992A>C (n.*1992A>C)
c.2095A>C (p.Thr699Pro)
c.*578A>C (n.*578A>C)
c.*2102A>C (n.*2102A>C)
c.1852A>C (p.Thr618Pro)
c.1402-10381A>C (n.1402-10381A>C)
c.2188A>C (p.Thr730Pro)
c.2368A>C (p.Thr790Pro)
c.2035A>C (p.Thr679Pro)
7g.117592445A>GCA368980795CFTRc.2278A>G (p.Thr760Ala)
c.*1992A>G (n.*1992A>G)
c.2095A>G (p.Thr699Ala)
c.*578A>G (n.*578A>G)
c.*2102A>G (n.*2102A>G)
c.1852A>G (p.Thr618Ala)
c.1402-10381A>G (n.1402-10381A>G)
c.2188A>G (p.Thr730Ala)
c.2368A>G (p.Thr790Ala)
c.2035A>G (p.Thr679Ala)
 ClinVar
7g.117592445A>TCA368980797CFTRc.2278A>T (p.Thr760Ser)
c.*1992A>T (n.*1992A>T)
c.2095A>T (p.Thr699Ser)
c.*578A>T (n.*578A>T)
c.*2102A>T (n.*2102A>T)
c.1852A>T (p.Thr618Ser)
c.1402-10381A>T (n.1402-10381A>T)
c.2188A>T (p.Thr730Ser)
c.2368A>T (p.Thr790Ser)
c.2035A>T (p.Thr679Ser)
 ClinVar
7g.117592445dupCA2573141692CFTRc.2278dup (p.Thr760AsnfsTer19)
c.*1992dup (n.*1992dup)
c.2095dup (p.Thr699AsnfsTer19)
c.*578dup (n.*578dup)
c.*2102dup (n.*2102dup)
c.1852dup (p.Thr618AsnfsTer19)
c.1402-10381dup (n.1402-10381dup)
c.2188dup (p.Thr730AsnfsTer19)
c.2368dup (p.Thr790AsnfsTer19)
c.2035dup (p.Thr679AsnfsTer19)
 ClinVar dbSNP
7g.117592446C>ACA368980803CFTRc.2279C>A (p.Thr760Lys)
c.*1993C>A (n.*1993C>A)
c.2096C>A (p.Thr699Lys)
c.*579C>A (n.*579C>A)
c.*2103C>A (n.*2103C>A)
c.1853C>A (p.Thr618Lys)
c.1402-10380C>A (n.1402-10380C>A)
c.2189C>A (p.Thr730Lys)
c.2369C>A (p.Thr790Lys)
c.2036C>A (p.Thr679Lys)
7g.117592446C=CA1737395175CFTRc.2279C= (p.Thr760=)
c.*1993C= (n.*1993C=)
c.2096C= (p.Thr699=)
c.*579C= (n.*579C=)
c.*2103C= (n.*2103C=)
c.1853C= (p.Thr618=)
c.1402-10380C= (n.1402-10380C=)
c.2189C= (p.Thr730=)
c.2369C= (p.Thr790=)
c.2036C= (p.Thr679=)
7g.117592446C>GCA4451165CFTRc.2279C>G (p.Thr760Arg)
c.*1993C>G (n.*1993C>G)
c.2096C>G (p.Thr699Arg)
c.*579C>G (n.*579C>G)
c.*2103C>G (n.*2103C>G)
c.1853C>G (p.Thr618Arg)
c.1402-10380C>G (n.1402-10380C>G)
c.2189C>G (p.Thr730Arg)
c.2369C>G (p.Thr790Arg)
c.2036C>G (p.Thr679Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.117592446C>TCA326786CFTRc.2279C>T (p.Thr760Met)
c.*1993C>T (n.*1993C>T)
c.2096C>T (p.Thr699Met)
c.*579C>T (n.*579C>T)
c.*2103C>T (n.*2103C>T)
c.1853C>T (p.Thr618Met)
c.1402-10380C>T (n.1402-10380C>T)
c.2189C>T (p.Thr730Met)
c.2369C>T (p.Thr790Met)
c.2036C>T (p.Thr679Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117592447G>ACA4451166CFTRc.2280G>A (p.Thr760=)
c.*1994G>A (n.*1994G>A)
c.2097G>A (p.Thr699=)
c.*580G>A (n.*580G>A)
c.*2104G>A (n.*2104G>A)
c.1854G>A (p.Thr618=)
c.1402-10379G>A (n.1402-10379G>A)
c.2190G>A (p.Thr730=)
c.2370G>A (p.Thr790=)
c.2037G>A (p.Thr679=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
7g.117592447G>CCA457449632CFTRc.2280G>C (p.Thr760=)
c.*1994G>C (n.*1994G>C)
c.2097G>C (p.Thr699=)
c.*580G>C (n.*580G>C)
c.*2104G>C (n.*2104G>C)
c.1854G>C (p.Thr618=)
c.1402-10379G>C (n.1402-10379G>C)
c.2190G>C (p.Thr730=)
c.2370G>C (p.Thr790=)
c.2037G>C (p.Thr679=)
 gnomAD v4
7g.117592447G=CA1737395180CFTRc.2280G= (p.Thr760=)
c.*1994G= (n.*1994G=)
c.2097G= (p.Thr699=)
c.*580G= (n.*580G=)
c.*2104G= (n.*2104G=)
c.1854G= (p.Thr618=)
c.1402-10379G= (n.1402-10379G=)
c.2190G= (p.Thr730=)
c.2370G= (p.Thr790=)
c.2037G= (p.Thr679=)
7g.117592447G>TCA457449631CFTRc.2280G>T (p.Thr760=)
c.*1994G>T (n.*1994G>T)
c.2097G>T (p.Thr699=)
c.*580G>T (n.*580G>T)
c.*2104G>T (n.*2104G>T)
c.1854G>T (p.Thr618=)
c.1402-10379G>T (n.1402-10379G>T)
c.2190G>T (p.Thr730=)
c.2370G>T (p.Thr790=)
c.2037G>T (p.Thr679=)
7g.117592448C>ACA368980815CFTRc.2281C>A (p.Leu761Ile)
c.*1995C>A (n.*1995C>A)
c.2098C>A (p.Leu700Ile)
c.*581C>A (n.*581C>A)
c.*2105C>A (n.*2105C>A)
c.1855C>A (p.Leu619Ile)
c.1402-10378C>A (n.1402-10378C>A)
c.2191C>A (p.Leu731Ile)
c.2371C>A (p.Leu791Ile)
c.2038C>A (p.Leu680Ile)
 ClinVar
7g.117592448C>GCA368980817CFTRc.2281C>G (p.Leu761Val)
c.*1995C>G (n.*1995C>G)
c.2098C>G (p.Leu700Val)
c.*581C>G (n.*581C>G)
c.*2105C>G (n.*2105C>G)
c.1855C>G (p.Leu619Val)
c.1402-10378C>G (n.1402-10378C>G)
c.2191C>G (p.Leu731Val)
c.2371C>G (p.Leu791Val)
c.2038C>G (p.Leu680Val)
7g.117592448C>TCA368980819CFTRc.2281C>T (p.Leu761Phe)
c.*1995C>T (n.*1995C>T)
c.2098C>T (p.Leu700Phe)
c.*581C>T (n.*581C>T)
c.*2105C>T (n.*2105C>T)
c.1855C>T (p.Leu619Phe)
c.1402-10378C>T (n.1402-10378C>T)
c.2191C>T (p.Leu731Phe)
c.2371C>T (p.Leu791Phe)
c.2038C>T (p.Leu680Phe)
 gnomAD v4
7g.117592449T>ACA368980823CFTRc.2282T>A (p.Leu761His)
c.*1996T>A (n.*1996T>A)
c.2099T>A (p.Leu700His)
c.*582T>A (n.*582T>A)
c.*2106T>A (n.*2106T>A)
c.1856T>A (p.Leu619His)
c.1402-10377T>A (n.1402-10377T>A)
c.2192T>A (p.Leu731His)
c.2372T>A (p.Leu791His)
c.2039T>A (p.Leu680His)
7g.117592449T>CCA164948166CFTRc.2282T>C (p.Leu761Pro)
c.*1996T>C (n.*1996T>C)
c.2099T>C (p.Leu700Pro)
c.*582T>C (n.*582T>C)
c.*2106T>C (n.*2106T>C)
c.1856T>C (p.Leu619Pro)
c.1402-10377T>C (n.1402-10377T>C)
c.2192T>C (p.Leu731Pro)
c.2372T>C (p.Leu791Pro)
c.2039T>C (p.Leu680Pro)
 dbSNP
7g.117592449T>GCA368980827CFTRc.2282T>G (p.Leu761Arg)
c.*1996T>G (n.*1996T>G)
c.2099T>G (p.Leu700Arg)
c.*582T>G (n.*582T>G)
c.*2106T>G (n.*2106T>G)
c.1856T>G (p.Leu619Arg)
c.1402-10377T>G (n.1402-10377T>G)
c.2192T>G (p.Leu731Arg)
c.2372T>G (p.Leu791Arg)
c.2039T>G (p.Leu680Arg)
7g.117592449T=CA1737395183CFTRc.2282T= (p.Leu761=)
c.*1996T= (n.*1996T=)
c.2099T= (p.Leu700=)
c.*582T= (n.*582T=)
c.*2106T= (n.*2106T=)
c.1856T= (p.Leu619=)
c.1402-10377T= (n.1402-10377T=)
c.2192T= (p.Leu731=)
c.2372T= (p.Leu791=)
c.2039T= (p.Leu680=)
7g.117592450dupCA2580076542CFTRc.2283dup (p.Gln762SerfsTer17)
c.*1997dup (n.*1997dup)
c.2100dup (p.Gln701SerfsTer17)
c.*583dup (n.*583dup)
c.*2107dup (n.*2107dup)
c.1857dup (p.Gln620SerfsTer17)
c.1402-10376dup (n.1402-10376dup)
c.2193dup (p.Gln732SerfsTer17)
c.2373dup (p.Gln792SerfsTer17)
c.2040dup (p.Gln681SerfsTer17)
 ClinVar
7g.117592450T>ACA457449638CFTRc.2283T>A (p.Leu761=)
c.*1997T>A (n.*1997T>A)
c.2100T>A (p.Leu700=)
c.*583T>A (n.*583T>A)
c.*2107T>A (n.*2107T>A)
c.1857T>A (p.Leu619=)
c.1402-10376T>A (n.1402-10376T>A)
c.2193T>A (p.Leu731=)
c.2373T>A (p.Leu791=)
c.2040T>A (p.Leu680=)
7g.117592450T>CCA457449640CFTRc.2283T>C (p.Leu761=)
c.*1997T>C (n.*1997T>C)
c.2100T>C (p.Leu700=)
c.*583T>C (n.*583T>C)
c.*2107T>C (n.*2107T>C)
c.1857T>C (p.Leu619=)
c.1402-10376T>C (n.1402-10376T>C)
c.2193T>C (p.Leu731=)
c.2373T>C (p.Leu791=)
c.2040T>C (p.Leu680=)
7g.117592450T>GCA457449645CFTRc.2283T>G (p.Leu761=)
c.*1997T>G (n.*1997T>G)
c.2100T>G (p.Leu700=)
c.*583T>G (n.*583T>G)
c.*2107T>G (n.*2107T>G)
c.1857T>G (p.Leu619=)
c.1402-10376T>G (n.1402-10376T>G)
c.2193T>G (p.Leu731=)
c.2373T>G (p.Leu791=)
c.2040T>G (p.Leu680=)
 ClinVar
7g.117592451C>ACA368980834CFTRc.2284C>A (p.Gln762Lys)
c.*1998C>A (n.*1998C>A)
c.2101C>A (p.Gln701Lys)
c.*584C>A (n.*584C>A)
c.*2108C>A (n.*2108C>A)
c.1858C>A (p.Gln620Lys)
c.1402-10375C>A (n.1402-10375C>A)
c.2194C>A (p.Gln732Lys)
c.2374C>A (p.Gln792Lys)
c.2041C>A (p.Gln681Lys)
7g.117592451C>GCA368980830CFTRc.2284C>G (p.Gln762Glu)
c.*1998C>G (n.*1998C>G)
c.2101C>G (p.Gln701Glu)
c.*584C>G (n.*584C>G)
c.*2108C>G (n.*2108C>G)
c.1858C>G (p.Gln620Glu)
c.1402-10375C>G (n.1402-10375C>G)
c.2194C>G (p.Gln732Glu)
c.2374C>G (p.Gln792Glu)
c.2041C>G (p.Gln681Glu)
7g.117592451C>TCA368980832CFTRc.2284C>T (p.Gln762Ter)
c.*1998C>T (n.*1998C>T)
c.2101C>T (p.Gln701Ter)
c.*584C>T (n.*584C>T)
c.*2108C>T (n.*2108C>T)
c.1858C>T (p.Gln620Ter)
c.1402-10375C>T (n.1402-10375C>T)
c.2194C>T (p.Gln732Ter)
c.2374C>T (p.Gln792Ter)
c.2041C>T (p.Gln681Ter)
 COSMIC
7g.117592452A>CCA368980838CFTRc.2285A>C (p.Gln762Pro)
c.*1999A>C (n.*1999A>C)
c.2102A>C (p.Gln701Pro)
c.*585A>C (n.*585A>C)
c.*2109A>C (n.*2109A>C)
c.1859A>C (p.Gln620Pro)
c.1402-10374A>C (n.1402-10374A>C)
c.2195A>C (p.Gln732Pro)
c.2375A>C (p.Gln792Pro)
c.2042A>C (p.Gln681Pro)
7g.117592452A>GCA368980840CFTRc.2285A>G (p.Gln762Arg)
c.*1999A>G (n.*1999A>G)
c.2102A>G (p.Gln701Arg)
c.*585A>G (n.*585A>G)
c.*2109A>G (n.*2109A>G)
c.1859A>G (p.Gln620Arg)
c.1402-10374A>G (n.1402-10374A>G)
c.2195A>G (p.Gln732Arg)
c.2375A>G (p.Gln792Arg)
c.2042A>G (p.Gln681Arg)
7g.117592452A>TCA368980842CFTRc.2285A>T (p.Gln762Leu)
c.*1999A>T (n.*1999A>T)
c.2102A>T (p.Gln701Leu)
c.*585A>T (n.*585A>T)
c.*2109A>T (n.*2109A>T)
c.1859A>T (p.Gln620Leu)
c.1402-10374A>T (n.1402-10374A>T)
c.2195A>T (p.Gln732Leu)
c.2375A>T (p.Gln792Leu)
c.2042A>T (p.Gln681Leu)
7g.117592453G>ACA457449653CFTRc.2286G>A (p.Gln762=)
c.*2000G>A (n.*2000G>A)
c.2103G>A (p.Gln701=)
c.*586G>A (n.*586G>A)
c.*2110G>A (n.*2110G>A)
c.1860G>A (p.Gln620=)
c.1402-10373G>A (n.1402-10373G>A)
c.2196G>A (p.Gln732=)
c.2376G>A (p.Gln792=)
c.2043G>A (p.Gln681=)
 ClinVar
7g.117592453G>CCA368980845CFTRc.2286G>C (p.Gln762His)
c.*2000G>C (n.*2000G>C)
c.2103G>C (p.Gln701His)
c.*586G>C (n.*586G>C)
c.*2110G>C (n.*2110G>C)
c.1860G>C (p.Gln620His)
c.1402-10373G>C (n.1402-10373G>C)
c.2196G>C (p.Gln732His)
c.2376G>C (p.Gln792His)
c.2043G>C (p.Gln681His)
7g.117592453G=CA1737395188CFTRc.2286G= (p.Gln762=)
c.*2000G= (n.*2000G=)
c.2103G= (p.Gln701=)
c.*586G= (n.*586G=)
c.*2110G= (n.*2110G=)
c.1860G= (p.Gln620=)
c.1402-10373G= (n.1402-10373G=)
c.2196G= (p.Gln732=)
c.2376G= (p.Gln792=)
c.2043G= (p.Gln681=)
7g.117592453G>TCA326788CFTRc.2286G>T (p.Gln762His)
c.*2000G>T (n.*2000G>T)
c.2103G>T (p.Gln701His)
c.*586G>T (n.*586G>T)
c.*2110G>T (n.*2110G>T)
c.1860G>T (p.Gln620His)
c.1402-10373G>T (n.1402-10373G>T)
c.2196G>T (p.Gln732His)
c.2376G>T (p.Gln792His)
c.2043G>T (p.Gln681His)
 dbSNP gnomAD v4
7g.117592454G>ACA368980850CFTRc.2287G>A (p.Ala763Thr)
c.*2001G>A (n.*2001G>A)
c.2104G>A (p.Ala702Thr)
c.*587G>A (n.*587G>A)
c.*2111G>A (n.*2111G>A)
c.1861G>A (p.Ala621Thr)
c.1402-10372G>A (n.1402-10372G>A)
c.2197G>A (p.Ala733Thr)
c.2377G>A (p.Ala793Thr)
c.2044G>A (p.Ala682Thr)
 ClinVar dbSNP gnomAD v4
7g.117592454G>CCA368980852CFTRc.2287G>C (p.Ala763Pro)
c.*2001G>C (n.*2001G>C)
c.2104G>C (p.Ala702Pro)
c.*587G>C (n.*587G>C)
c.*2111G>C (n.*2111G>C)
c.1861G>C (p.Ala621Pro)
c.1402-10372G>C (n.1402-10372G>C)
c.2197G>C (p.Ala733Pro)
c.2377G>C (p.Ala793Pro)
c.2044G>C (p.Ala682Pro)
7g.117592454G>TCA368980855CFTRc.2287G>T (p.Ala763Ser)
c.*2001G>T (n.*2001G>T)
c.2104G>T (p.Ala702Ser)
c.*587G>T (n.*587G>T)
c.*2111G>T (n.*2111G>T)
c.1861G>T (p.Ala621Ser)
c.1402-10372G>T (n.1402-10372G>T)
c.2197G>T (p.Ala733Ser)
c.2377G>T (p.Ala793Ser)
c.2044G>T (p.Ala682Ser)
 ClinVar
7g.117592455C>ACA368980858CFTRc.2288C>A (p.Ala763Glu)
c.*2002C>A (n.*2002C>A)
c.2105C>A (p.Ala702Glu)
c.*588C>A (n.*588C>A)
c.*2112C>A (n.*2112C>A)
c.1862C>A (p.Ala621Glu)
c.1402-10371C>A (n.1402-10371C>A)
c.2198C>A (p.Ala733Glu)
c.2378C>A (p.Ala793Glu)
c.2045C>A (p.Ala682Glu)
7g.117592455C>GCA368980860CFTRc.2288C>G (p.Ala763Gly)
c.*2002C>G (n.*2002C>G)
c.2105C>G (p.Ala702Gly)
c.*588C>G (n.*588C>G)
c.*2112C>G (n.*2112C>G)
c.1862C>G (p.Ala621Gly)
c.1402-10371C>G (n.1402-10371C>G)
c.2198C>G (p.Ala733Gly)
c.2378C>G (p.Ala793Gly)
c.2045C>G (p.Ala682Gly)
 ClinVar
7g.117592455C>TCA368980863CFTRc.2288C>T (p.Ala763Val)
c.*2002C>T (n.*2002C>T)
c.2105C>T (p.Ala702Val)
c.*588C>T (n.*588C>T)
c.*2112C>T (n.*2112C>T)
c.1862C>T (p.Ala621Val)
c.1402-10371C>T (n.1402-10371C>T)
c.2198C>T (p.Ala733Val)
c.2378C>T (p.Ala793Val)
c.2045C>T (p.Ala682Val)
7g.117592456A=CA1737395189CFTRc.2289A= (p.Ala763=)
c.*2003A= (n.*2003A=)
c.2106A= (p.Ala702=)
c.*589A= (n.*589A=)
c.*2113A= (n.*2113A=)
c.1863A= (p.Ala621=)
c.1402-10370A= (n.1402-10370A=)
c.2199A= (p.Ala733=)
c.2379A= (p.Ala793=)
c.2046A= (p.Ala682=)
7g.117592456A>CCA457449660CFTRc.2289A>C (p.Ala763=)
c.*2003A>C (n.*2003A>C)
c.2106A>C (p.Ala702=)
c.*589A>C (n.*589A>C)
c.*2113A>C (n.*2113A>C)
c.1863A>C (p.Ala621=)
c.1402-10370A>C (n.1402-10370A>C)
c.2199A>C (p.Ala733=)
c.2379A>C (p.Ala793=)
c.2046A>C (p.Ala682=)
7g.117592456A>GCA457449661CFTRc.2289A>G (p.Ala763=)
c.*2003A>G (n.*2003A>G)
c.2106A>G (p.Ala702=)
c.*589A>G (n.*589A>G)
c.*2113A>G (n.*2113A>G)
c.1863A>G (p.Ala621=)
c.1402-10370A>G (n.1402-10370A>G)
c.2199A>G (p.Ala733=)
c.2379A>G (p.Ala793=)
c.2046A>G (p.Ala682=)
 ClinVar dbSNP
7g.117592456A>TCA457449663CFTRc.2289A>T (p.Ala763=)
c.*2003A>T (n.*2003A>T)
c.2106A>T (p.Ala702=)
c.*589A>T (n.*589A>T)
c.*2113A>T (n.*2113A>T)
c.1863A>T (p.Ala621=)
c.1402-10370A>T (n.1402-10370A>T)
c.2199A>T (p.Ala733=)
c.2379A>T (p.Ala793=)
c.2046A>T (p.Ala682=)
7g.117592457C>ACA457449666CFTRc.2290C>A (p.Arg764=)
c.*2004C>A (n.*2004C>A)
c.2107C>A (p.Arg703=)
c.*590C>A (n.*590C>A)
c.*2114C>A (n.*2114C>A)
c.1864C>A (p.Arg622=)
c.1402-10369C>A (n.1402-10369C>A)
c.2200C>A (p.Arg734=)
c.2380C>A (p.Arg794=)
c.2047C>A (p.Arg683=)
 ClinVar gnomAD v4
7g.117592457C=CA1737395194CFTRc.2290C= (p.Arg764=)
c.*2004C= (n.*2004C=)
c.2107C= (p.Arg703=)
c.*590C= (n.*590C=)
c.*2114C= (n.*2114C=)
c.1864C= (p.Arg622=)
c.1402-10369C= (n.1402-10369C=)
c.2200C= (p.Arg734=)
c.2380C= (p.Arg794=)
c.2047C= (p.Arg683=)
7g.117592457C>GCA368980865CFTRc.2290C>G (p.Arg764Gly)
c.*2004C>G (n.*2004C>G)
c.2107C>G (p.Arg703Gly)
c.*590C>G (n.*590C>G)
c.*2114C>G (n.*2114C>G)
c.1864C>G (p.Arg622Gly)
c.1402-10369C>G (n.1402-10369C>G)
c.2200C>G (p.Arg734Gly)
c.2380C>G (p.Arg794Gly)
c.2047C>G (p.Arg683Gly)
7g.117592457C>TCA328100CFTRc.2290C>T (p.Arg764Ter)
c.*2004C>T (n.*2004C>T)
c.2107C>T (p.Arg703Ter)
c.*590C>T (n.*590C>T)
c.*2114C>T (n.*2114C>T)
c.1864C>T (p.Arg622Ter)
c.1402-10369C>T (n.1402-10369C>T)
c.2200C>T (p.Arg734Ter)
c.2380C>T (p.Arg794Ter)
c.2047C>T (p.Arg683Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
7g.117592457_117592458delinsCGCA1737395200CFTRc.2290_2291delinsCG (p.Arg764=)
c.*2004_*2005delinsCG (n.*2004_*2005delinsCG)
c.2107_2108delinsCG (p.Arg703=)
c.*590_*591delinsCG (n.*590_*591delinsCG)
c.*2114_*2115delinsCG (n.*2114_*2115delinsCG)
c.1864_1865delinsCG (p.Arg622=)
c.1402-10369_1402-10368delinsCG (n.1402-10369_1402-10368delinsCG)
c.2200_2201delinsCG (p.Arg734=)
c.2380_2381delinsCG (p.Arg794=)
c.2047_2048delinsCG (p.Arg683=)
7g.117592458delCA325606CFTRc.2291del (p.Arg764GlnfsTer7)
c.*2005del (n.*2005del)
c.2108del (p.Arg703GlnfsTer7)
c.*591del (n.*591del)
c.*2115del (n.*2115del)
c.1865del (p.Arg622GlnfsTer7)
c.1402-10368del (n.1402-10368del)
c.2201del (p.Arg734GlnfsTer7)
c.2381del (p.Arg794GlnfsTer7)
c.2048del (p.Arg683GlnfsTer7)
 ClinVar dbSNP
7g.117592458G>ACA368980869CFTRc.2291G>A (p.Arg764Gln)
c.*2005G>A (n.*2005G>A)
c.2108G>A (p.Arg703Gln)
c.*591G>A (n.*591G>A)
c.*2115G>A (n.*2115G>A)
c.1865G>A (p.Arg622Gln)
c.1402-10368G>A (n.1402-10368G>A)
c.2201G>A (p.Arg734Gln)
c.2381G>A (p.Arg794Gln)
c.2048G>A (p.Arg683Gln)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
7g.117592458G>CCA368980871CFTRc.2291G>C (p.Arg764Pro)
c.*2005G>C (n.*2005G>C)
c.2108G>C (p.Arg703Pro)
c.*591G>C (n.*591G>C)
c.*2115G>C (n.*2115G>C)
c.1865G>C (p.Arg622Pro)
c.1402-10368G>C (n.1402-10368G>C)
c.2201G>C (p.Arg734Pro)
c.2381G>C (p.Arg794Pro)
c.2048G>C (p.Arg683Pro)
7g.117592458G=CA1737395210CFTRc.2291G= (p.Arg764=)
c.*2005G= (n.*2005G=)
c.2108G= (p.Arg703=)
c.*591G= (n.*591G=)
c.*2115G= (n.*2115G=)
c.1865G= (p.Arg622=)
c.1402-10368G= (n.1402-10368G=)
c.2201G= (p.Arg734=)
c.2381G= (p.Arg794=)
c.2048G= (p.Arg683=)
7g.117592458G>TCA368980873CFTRc.2291G>T (p.Arg764Leu)
c.*2005G>T (n.*2005G>T)
c.2108G>T (p.Arg703Leu)
c.*591G>T (n.*591G>T)
c.*2115G>T (n.*2115G>T)
c.1865G>T (p.Arg622Leu)
c.1402-10368G>T (n.1402-10368G>T)
c.2201G>T (p.Arg734Leu)
c.2381G>T (p.Arg794Leu)
c.2048G>T (p.Arg683Leu)
7g.117592459A>CCA457449669CFTRc.2292A>C (p.Arg764=)
c.*2006A>C (n.*2006A>C)
c.2109A>C (p.Arg703=)
c.*592A>C (n.*592A>C)
c.*2116A>C (n.*2116A>C)
c.1866A>C (p.Arg622=)
c.1402-10367A>C (n.1402-10367A>C)
c.2202A>C (p.Arg734=)
c.2382A>C (p.Arg794=)
c.2049A>C (p.Arg683=)
7g.117592459A>GCA457449670CFTRc.2292A>G (p.Arg764=)
c.*2006A>G (n.*2006A>G)
c.2109A>G (p.Arg703=)
c.*592A>G (n.*592A>G)
c.*2116A>G (n.*2116A>G)
c.1866A>G (p.Arg622=)
c.1402-10367A>G (n.1402-10367A>G)
c.2202A>G (p.Arg734=)
c.2382A>G (p.Arg794=)
c.2049A>G (p.Arg683=)
 gnomAD v4
7g.117592459A>TCA457449671CFTRc.2292A>T (p.Arg764=)
c.*2006A>T (n.*2006A>T)
c.2109A>T (p.Arg703=)
c.*592A>T (n.*592A>T)
c.*2116A>T (n.*2116A>T)
c.1866A>T (p.Arg622=)
c.1402-10367A>T (n.1402-10367A>T)
c.2202A>T (p.Arg734=)
c.2382A>T (p.Arg794=)
c.2049A>T (p.Arg683=)
7g.117592460A>CCA457449673CFTRc.2293A>C (p.Arg765=)
c.*2007A>C (n.*2007A>C)
c.2110A>C (p.Arg704=)
c.*593A>C (n.*593A>C)
c.*2117A>C (n.*2117A>C)
c.1867A>C (p.Arg623=)
c.1402-10366A>C (n.1402-10366A>C)
c.2203A>C (p.Arg735=)
c.2383A>C (p.Arg795=)
c.2050A>C (p.Arg684=)
7g.117592460A>GCA368980876CFTRc.2293A>G (p.Arg765Gly)
c.*2007A>G (n.*2007A>G)
c.2110A>G (p.Arg704Gly)
c.*593A>G (n.*593A>G)
c.*2117A>G (n.*2117A>G)
c.1867A>G (p.Arg623Gly)
c.1402-10366A>G (n.1402-10366A>G)
c.2203A>G (p.Arg735Gly)
c.2383A>G (p.Arg795Gly)
c.2050A>G (p.Arg684Gly)
 ClinVar
7g.117592460A>TCA368980878CFTRc.2293A>T (p.Arg765Trp)
c.*2007A>T (n.*2007A>T)
c.2110A>T (p.Arg704Trp)
c.*593A>T (n.*593A>T)
c.*2117A>T (n.*2117A>T)
c.1867A>T (p.Arg623Trp)
c.1402-10366A>T (n.1402-10366A>T)
c.2203A>T (p.Arg735Trp)
c.2383A>T (p.Arg795Trp)
c.2050A>T (p.Arg684Trp)
7g.117592461G>ACA4451167CFTRc.2294G>A (p.Arg765Lys)
c.*2008G>A (n.*2008G>A)
c.2111G>A (p.Arg704Lys)
c.*594G>A (n.*594G>A)
c.*2118G>A (n.*2118G>A)
c.1868G>A (p.Arg623Lys)
c.1402-10365G>A (n.1402-10365G>A)
c.2204G>A (p.Arg735Lys)
c.2384G>A (p.Arg795Lys)
c.2051G>A (p.Arg684Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117592461G>CCA368980882CFTRc.2294G>C (p.Arg765Thr)
c.*2008G>C (n.*2008G>C)
c.2111G>C (p.Arg704Thr)
c.*594G>C (n.*594G>C)
c.*2118G>C (n.*2118G>C)
c.1868G>C (p.Arg623Thr)
c.1402-10365G>C (n.1402-10365G>C)
c.2204G>C (p.Arg735Thr)
c.2384G>C (p.Arg795Thr)
c.2051G>C (p.Arg684Thr)
7g.117592461G=CA1737395219CFTRc.2294G= (p.Arg765=)
c.*2008G= (n.*2008G=)
c.2111G= (p.Arg704=)
c.*594G= (n.*594G=)
c.*2118G= (n.*2118G=)
c.1868G= (p.Arg623=)
c.1402-10365G= (n.1402-10365G=)
c.2204G= (p.Arg735=)
c.2384G= (p.Arg795=)
c.2051G= (p.Arg684=)
7g.117592461G>TCA368980884CFTRc.2294G>T (p.Arg765Met)
c.*2008G>T (n.*2008G>T)
c.2111G>T (p.Arg704Met)
c.*594G>T (n.*594G>T)
c.*2118G>T (n.*2118G>T)
c.1868G>T (p.Arg623Met)
c.1402-10365G>T (n.1402-10365G>T)
c.2204G>T (p.Arg735Met)
c.2384G>T (p.Arg795Met)
c.2051G>T (p.Arg684Met)
7g.117592462G>ACA457449676CFTRc.2295G>A (p.Arg765=)
c.*2009G>A (n.*2009G>A)
c.2112G>A (p.Arg704=)
c.*595G>A (n.*595G>A)
c.*2119G>A (n.*2119G>A)
c.1869G>A (p.Arg623=)
c.1402-10364G>A (n.1402-10364G>A)
c.2205G>A (p.Arg735=)
c.2385G>A (p.Arg795=)
c.2052G>A (p.Arg684=)
 ClinVar
7g.117592462G>CCA368980887CFTRc.2295G>C (p.Arg765Ser)
c.*2009G>C (n.*2009G>C)
c.2112G>C (p.Arg704Ser)
c.*595G>C (n.*595G>C)
c.*2119G>C (n.*2119G>C)
c.1869G>C (p.Arg623Ser)
c.1402-10364G>C (n.1402-10364G>C)
c.2205G>C (p.Arg735Ser)
c.2385G>C (p.Arg795Ser)
c.2052G>C (p.Arg684Ser)
7g.117592462G>TCA368980888CFTRc.2295G>T (p.Arg765Ser)
c.*2009G>T (n.*2009G>T)
c.2112G>T (p.Arg704Ser)
c.*595G>T (n.*595G>T)
c.*2119G>T (n.*2119G>T)
c.1869G>T (p.Arg623Ser)
c.1402-10364G>T (n.1402-10364G>T)
c.2205G>T (p.Arg735Ser)
c.2385G>T (p.Arg795Ser)
c.2052G>T (p.Arg684Ser)
 gnomAD v4

Number of alleles fetched