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.117592124T>ACA368978994CFTRc.1957T>A (p.Phe653Ile)
c.*1671T>A (n.*1671T>A)
c.1774T>A (p.Phe592Ile)
c.*257T>A (n.*257T>A)
c.*1781T>A (n.*1781T>A)
c.1531T>A (p.Phe511Ile)
c.1402-10702T>A (n.1402-10702T>A)
c.1867T>A (p.Phe623Ile)
c.2047T>A (p.Phe683Ile)
c.1714T>A (p.Phe572Ile)
7g.117592124T>CCA368978996CFTRc.1957T>C (p.Phe653Leu)
c.*1671T>C (n.*1671T>C)
c.1774T>C (p.Phe592Leu)
c.*257T>C (n.*257T>C)
c.*1781T>C (n.*1781T>C)
c.1531T>C (p.Phe511Leu)
c.1402-10702T>C (n.1402-10702T>C)
c.1867T>C (p.Phe623Leu)
c.2047T>C (p.Phe683Leu)
c.1714T>C (p.Phe572Leu)
7g.117592124T>GCA368978998CFTRc.1957T>G (p.Phe653Val)
c.*1671T>G (n.*1671T>G)
c.1774T>G (p.Phe592Val)
c.*257T>G (n.*257T>G)
c.*1781T>G (n.*1781T>G)
c.1531T>G (p.Phe511Val)
c.1402-10702T>G (n.1402-10702T>G)
c.1867T>G (p.Phe623Val)
c.2047T>G (p.Phe683Val)
c.1714T>G (p.Phe572Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.117592124T=CA1737394313CFTRc.1957T= (p.Phe653=)
c.*1671T= (n.*1671T=)
c.1774T= (p.Phe592=)
c.*257T= (n.*257T=)
c.*1781T= (n.*1781T=)
c.1531T= (p.Phe511=)
c.1402-10702T= (n.1402-10702T=)
c.1867T= (p.Phe623=)
c.2047T= (p.Phe683=)
c.1714T= (p.Phe572=)
7g.117592125T>ACA368979002CFTRc.1958T>A (p.Phe653Tyr)
c.*1672T>A (n.*1672T>A)
c.1775T>A (p.Phe592Tyr)
c.*258T>A (n.*258T>A)
c.*1782T>A (n.*1782T>A)
c.1532T>A (p.Phe511Tyr)
c.1402-10701T>A (n.1402-10701T>A)
c.1868T>A (p.Phe623Tyr)
c.2048T>A (p.Phe683Tyr)
c.1715T>A (p.Phe572Tyr)
7g.117592125T>CCA368979004CFTRc.1958T>C (p.Phe653Ser)
c.*1672T>C (n.*1672T>C)
c.1775T>C (p.Phe592Ser)
c.*258T>C (n.*258T>C)
c.*1782T>C (n.*1782T>C)
c.1532T>C (p.Phe511Ser)
c.1402-10701T>C (n.1402-10701T>C)
c.1868T>C (p.Phe623Ser)
c.2048T>C (p.Phe683Ser)
c.1715T>C (p.Phe572Ser)
7g.117592125T>GCA368979005CFTRc.1958T>G (p.Phe653Cys)
c.*1672T>G (n.*1672T>G)
c.1775T>G (p.Phe592Cys)
c.*258T>G (n.*258T>G)
c.*1782T>G (n.*1782T>G)
c.1532T>G (p.Phe511Cys)
c.1402-10701T>G (n.1402-10701T>G)
c.1868T>G (p.Phe623Cys)
c.2048T>G (p.Phe683Cys)
c.1715T>G (p.Phe572Cys)
7g.117592126T>ACA368979006CFTRc.1959T>A (p.Phe653Leu)
c.*1673T>A (n.*1673T>A)
c.1776T>A (p.Phe592Leu)
c.*259T>A (n.*259T>A)
c.*1783T>A (n.*1783T>A)
c.1533T>A (p.Phe511Leu)
c.1402-10700T>A (n.1402-10700T>A)
c.1869T>A (p.Phe623Leu)
c.2049T>A (p.Phe683Leu)
c.1716T>A (p.Phe572Leu)
7g.117592126T>CCA457448905CFTRc.1959T>C (p.Phe653=)
c.*1673T>C (n.*1673T>C)
c.1776T>C (p.Phe592=)
c.*259T>C (n.*259T>C)
c.*1783T>C (n.*1783T>C)
c.1533T>C (p.Phe511=)
c.1402-10700T>C (n.1402-10700T>C)
c.1869T>C (p.Phe623=)
c.2049T>C (p.Phe683=)
c.1716T>C (p.Phe572=)
7g.117592126T>GCA368979007CFTRc.1959T>G (p.Phe653Leu)
c.*1673T>G (n.*1673T>G)
c.1776T>G (p.Phe592Leu)
c.*259T>G (n.*259T>G)
c.*1783T>G (n.*1783T>G)
c.1533T>G (p.Phe511Leu)
c.1402-10700T>G (n.1402-10700T>G)
c.1869T>G (p.Phe623Leu)
c.2049T>G (p.Phe683Leu)
c.1716T>G (p.Phe572Leu)
7g.117592127A=CA1737394315CFTRc.1960A= (p.Ser654=)
c.*1674A= (n.*1674A=)
c.1777A= (p.Ser593=)
c.*260A= (n.*260A=)
c.*1784A= (n.*1784A=)
c.1534A= (p.Ser512=)
c.1402-10699A= (n.1402-10699A=)
c.1870A= (p.Ser624=)
c.2050A= (p.Ser684=)
c.1717A= (p.Ser573=)
7g.117592127A>CCA368979008CFTRc.1960A>C (p.Ser654Arg)
c.*1674A>C (n.*1674A>C)
c.1777A>C (p.Ser593Arg)
c.*260A>C (n.*260A>C)
c.*1784A>C (n.*1784A>C)
c.1534A>C (p.Ser512Arg)
c.1402-10699A>C (n.1402-10699A>C)
c.1870A>C (p.Ser624Arg)
c.2050A>C (p.Ser684Arg)
c.1717A>C (p.Ser573Arg)
7g.117592127A>GCA164947637CFTRc.1960A>G (p.Ser654Gly)
c.*1674A>G (n.*1674A>G)
c.1777A>G (p.Ser593Gly)
c.*260A>G (n.*260A>G)
c.*1784A>G (n.*1784A>G)
c.1534A>G (p.Ser512Gly)
c.1402-10699A>G (n.1402-10699A>G)
c.1870A>G (p.Ser624Gly)
c.2050A>G (p.Ser684Gly)
c.1717A>G (p.Ser573Gly)
 dbSNP gnomAD v2 gnomAD v4
7g.117592127A>TCA368979009CFTRc.1960A>T (p.Ser654Cys)
c.*1674A>T (n.*1674A>T)
c.1777A>T (p.Ser593Cys)
c.*260A>T (n.*260A>T)
c.*1784A>T (n.*1784A>T)
c.1534A>T (p.Ser512Cys)
c.1402-10699A>T (n.1402-10699A>T)
c.1870A>T (p.Ser624Cys)
c.2050A>T (p.Ser684Cys)
c.1717A>T (p.Ser573Cys)
 ClinVar dbSNP
7g.117592128G>ACA368979010CFTRc.1961G>A (p.Ser654Asn)
c.*1675G>A (n.*1675G>A)
c.1778G>A (p.Ser593Asn)
c.*261G>A (n.*261G>A)
c.*1785G>A (n.*1785G>A)
c.1535G>A (p.Ser512Asn)
c.1402-10698G>A (n.1402-10698G>A)
c.1871G>A (p.Ser624Asn)
c.2051G>A (p.Ser684Asn)
c.1718G>A (p.Ser573Asn)
7g.117592128G>CCA368979013CFTRc.1961G>C (p.Ser654Thr)
c.*1675G>C (n.*1675G>C)
c.1778G>C (p.Ser593Thr)
c.*261G>C (n.*261G>C)
c.*1785G>C (n.*1785G>C)
c.1535G>C (p.Ser512Thr)
c.1402-10698G>C (n.1402-10698G>C)
c.1871G>C (p.Ser624Thr)
c.2051G>C (p.Ser684Thr)
c.1718G>C (p.Ser573Thr)
7g.117592128G>TCA368979011CFTRc.1961G>T (p.Ser654Ile)
c.*1675G>T (n.*1675G>T)
c.1778G>T (p.Ser593Ile)
c.*261G>T (n.*261G>T)
c.*1785G>T (n.*1785G>T)
c.1535G>T (p.Ser512Ile)
c.1402-10698G>T (n.1402-10698G>T)
c.1871G>T (p.Ser624Ile)
c.2051G>T (p.Ser684Ile)
c.1718G>T (p.Ser573Ile)
7g.117592129T>ACA368979017CFTRc.1962T>A (p.Ser654Arg)
c.*1676T>A (n.*1676T>A)
c.1779T>A (p.Ser593Arg)
c.*262T>A (n.*262T>A)
c.*1786T>A (n.*1786T>A)
c.1536T>A (p.Ser512Arg)
c.1402-10697T>A (n.1402-10697T>A)
c.1872T>A (p.Ser624Arg)
c.2052T>A (p.Ser684Arg)
c.1719T>A (p.Ser573Arg)
7g.117592129T>CCA457448906CFTRc.1962T>C (p.Ser654=)
c.*1676T>C (n.*1676T>C)
c.1779T>C (p.Ser593=)
c.*262T>C (n.*262T>C)
c.*1786T>C (n.*1786T>C)
c.1536T>C (p.Ser512=)
c.1402-10697T>C (n.1402-10697T>C)
c.1872T>C (p.Ser624=)
c.2052T>C (p.Ser684=)
c.1719T>C (p.Ser573=)
 ClinVar dbSNP gnomAD v4
7g.117592129T>GCA368979019CFTRc.1962T>G (p.Ser654Arg)
c.*1676T>G (n.*1676T>G)
c.1779T>G (p.Ser593Arg)
c.*262T>G (n.*262T>G)
c.*1786T>G (n.*1786T>G)
c.1536T>G (p.Ser512Arg)
c.1402-10697T>G (n.1402-10697T>G)
c.1872T>G (p.Ser624Arg)
c.2052T>G (p.Ser684Arg)
c.1719T>G (p.Ser573Arg)
 ClinVar dbSNP
7g.117592129T=CA1737394320CFTRc.1962T= (p.Ser654=)
c.*1676T= (n.*1676T=)
c.1779T= (p.Ser593=)
c.*262T= (n.*262T=)
c.*1786T= (n.*1786T=)
c.1536T= (p.Ser512=)
c.1402-10697T= (n.1402-10697T=)
c.1872T= (p.Ser624=)
c.2052T= (p.Ser684=)
c.1719T= (p.Ser573=)
7g.117592130G>ACA368979021CFTRc.1963G>A (p.Ala655Thr)
c.*1677G>A (n.*1677G>A)
c.1780G>A (p.Ala594Thr)
c.*263G>A (n.*263G>A)
c.*1787G>A (n.*1787G>A)
c.1537G>A (p.Ala513Thr)
c.1402-10696G>A (n.1402-10696G>A)
c.1873G>A (p.Ala625Thr)
c.2053G>A (p.Ala685Thr)
c.1720G>A (p.Ala574Thr)
 dbSNP COSMIC
7g.117592130G>CCA368979022CFTRc.1963G>C (p.Ala655Pro)
c.*1677G>C (n.*1677G>C)
c.1780G>C (p.Ala594Pro)
c.*263G>C (n.*263G>C)
c.*1787G>C (n.*1787G>C)
c.1537G>C (p.Ala513Pro)
c.1402-10696G>C (n.1402-10696G>C)
c.1873G>C (p.Ala625Pro)
c.2053G>C (p.Ala685Pro)
c.1720G>C (p.Ala574Pro)
7g.117592130G>TCA368979023CFTRc.1963G>T (p.Ala655Ser)
c.*1677G>T (n.*1677G>T)
c.1780G>T (p.Ala594Ser)
c.*263G>T (n.*263G>T)
c.*1787G>T (n.*1787G>T)
c.1537G>T (p.Ala513Ser)
c.1402-10696G>T (n.1402-10696G>T)
c.1873G>T (p.Ala625Ser)
c.2053G>T (p.Ala685Ser)
c.1720G>T (p.Ala574Ser)
7g.117592131C>ACA368979026CFTRc.1964C>A (p.Ala655Glu)
c.*1678C>A (n.*1678C>A)
c.1781C>A (p.Ala594Glu)
c.*264C>A (n.*264C>A)
c.*1788C>A (n.*1788C>A)
c.1538C>A (p.Ala513Glu)
c.1402-10695C>A (n.1402-10695C>A)
c.1874C>A (p.Ala625Glu)
c.2054C>A (p.Ala685Glu)
c.1721C>A (p.Ala574Glu)
7g.117592131C>GCA368979028CFTRc.1964C>G (p.Ala655Gly)
c.*1678C>G (n.*1678C>G)
c.1781C>G (p.Ala594Gly)
c.*264C>G (n.*264C>G)
c.*1788C>G (n.*1788C>G)
c.1538C>G (p.Ala513Gly)
c.1402-10695C>G (n.1402-10695C>G)
c.1874C>G (p.Ala625Gly)
c.2054C>G (p.Ala685Gly)
c.1721C>G (p.Ala574Gly)
7g.117592131C>TCA368979031CFTRc.1964C>T (p.Ala655Val)
c.*1678C>T (n.*1678C>T)
c.1781C>T (p.Ala594Val)
c.*264C>T (n.*264C>T)
c.*1788C>T (n.*1788C>T)
c.1538C>T (p.Ala513Val)
c.1402-10695C>T (n.1402-10695C>T)
c.1874C>T (p.Ala625Val)
c.2054C>T (p.Ala685Val)
c.1721C>T (p.Ala574Val)
 ClinVar gnomAD v4
7g.117592132A>CCA457448909CFTRc.1965A>C (p.Ala655=)
c.*1679A>C (n.*1679A>C)
c.1782A>C (p.Ala594=)
c.*265A>C (n.*265A>C)
c.*1789A>C (n.*1789A>C)
c.1539A>C (p.Ala513=)
c.1402-10694A>C (n.1402-10694A>C)
c.1875A>C (p.Ala625=)
c.2055A>C (p.Ala685=)
c.1722A>C (p.Ala574=)
7g.117592132A>GCA457448907CFTRc.1965A>G (p.Ala655=)
c.*1679A>G (n.*1679A>G)
c.1782A>G (p.Ala594=)
c.*265A>G (n.*265A>G)
c.*1789A>G (n.*1789A>G)
c.1539A>G (p.Ala513=)
c.1402-10694A>G (n.1402-10694A>G)
c.1875A>G (p.Ala625=)
c.2055A>G (p.Ala685=)
c.1722A>G (p.Ala574=)
7g.117592132A>TCA457448908CFTRc.1965A>T (p.Ala655=)
c.*1679A>T (n.*1679A>T)
c.1782A>T (p.Ala594=)
c.*265A>T (n.*265A>T)
c.*1789A>T (n.*1789A>T)
c.1539A>T (p.Ala513=)
c.1402-10694A>T (n.1402-10694A>T)
c.1875A>T (p.Ala625=)
c.2055A>T (p.Ala685=)
c.1722A>T (p.Ala574=)
7g.117592133G>ACA368979033CFTRc.1966G>A (p.Glu656Lys)
c.*1680G>A (n.*1680G>A)
c.1783G>A (p.Glu595Lys)
c.*266G>A (n.*266G>A)
c.*1790G>A (n.*1790G>A)
c.1540G>A (p.Glu514Lys)
c.1402-10693G>A (n.1402-10693G>A)
c.1876G>A (p.Glu626Lys)
c.2056G>A (p.Glu686Lys)
c.1723G>A (p.Glu575Lys)
7g.117592133G>CCA368979035CFTRc.1966G>C (p.Glu656Gln)
c.*1680G>C (n.*1680G>C)
c.1783G>C (p.Glu595Gln)
c.*266G>C (n.*266G>C)
c.*1790G>C (n.*1790G>C)
c.1540G>C (p.Glu514Gln)
c.1402-10693G>C (n.1402-10693G>C)
c.1876G>C (p.Glu626Gln)
c.2056G>C (p.Glu686Gln)
c.1723G>C (p.Glu575Gln)
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.117592133G=CA1737394326CFTRc.1966G= (p.Glu656=)
c.*1680G= (n.*1680G=)
c.1783G= (p.Glu595=)
c.*266G= (n.*266G=)
c.*1790G= (n.*1790G=)
c.1540G= (p.Glu514=)
c.1402-10693G= (n.1402-10693G=)
c.1876G= (p.Glu626=)
c.2056G= (p.Glu686=)
c.1723G= (p.Glu575=)
7g.117592133G>TCA326719CFTRc.1966G>T (p.Glu656Ter)
c.*1680G>T (n.*1680G>T)
c.1783G>T (p.Glu595Ter)
c.*266G>T (n.*266G>T)
c.*1790G>T (n.*1790G>T)
c.1540G>T (p.Glu514Ter)
c.1402-10693G>T (n.1402-10693G>T)
c.1876G>T (p.Glu626Ter)
c.2056G>T (p.Glu686Ter)
c.1723G>T (p.Glu575Ter)
 ClinVar dbSNP
7g.117592134A=CA1737394333CFTRc.1967A= (p.Glu656=)
c.*1681A= (n.*1681A=)
c.1784A= (p.Glu595=)
c.*267A= (n.*267A=)
c.*1791A= (n.*1791A=)
c.1541A= (p.Glu514=)
c.1402-10692A= (n.1402-10692A=)
c.1877A= (p.Glu626=)
c.2057A= (p.Glu686=)
c.1724A= (p.Glu575=)
7g.117592134A>CCA368979042CFTRc.1967A>C (p.Glu656Ala)
c.*1681A>C (n.*1681A>C)
c.1784A>C (p.Glu595Ala)
c.*267A>C (n.*267A>C)
c.*1791A>C (n.*1791A>C)
c.1541A>C (p.Glu514Ala)
c.1402-10692A>C (n.1402-10692A>C)
c.1877A>C (p.Glu626Ala)
c.2057A>C (p.Glu686Ala)
c.1724A>C (p.Glu575Ala)
7g.117592134A>GCA368979040CFTRc.1967A>G (p.Glu656Gly)
c.*1681A>G (n.*1681A>G)
c.1784A>G (p.Glu595Gly)
c.*267A>G (n.*267A>G)
c.*1791A>G (n.*1791A>G)
c.1541A>G (p.Glu514Gly)
c.1402-10692A>G (n.1402-10692A>G)
c.1877A>G (p.Glu626Gly)
c.2057A>G (p.Glu686Gly)
c.1724A>G (p.Glu575Gly)
 ClinVar dbSNP
7g.117592134A>TCA368979038CFTRc.1967A>T (p.Glu656Val)
c.*1681A>T (n.*1681A>T)
c.1784A>T (p.Glu595Val)
c.*267A>T (n.*267A>T)
c.*1791A>T (n.*1791A>T)
c.1541A>T (p.Glu514Val)
c.1402-10692A>T (n.1402-10692A>T)
c.1877A>T (p.Glu626Val)
c.2057A>T (p.Glu686Val)
c.1724A>T (p.Glu575Val)
7g.117592135A>CCA368979045CFTRc.1968A>C (p.Glu656Asp)
c.*1682A>C (n.*1682A>C)
c.1785A>C (p.Glu595Asp)
c.*268A>C (n.*268A>C)
c.*1792A>C (n.*1792A>C)
c.1542A>C (p.Glu514Asp)
c.1402-10691A>C (n.1402-10691A>C)
c.1878A>C (p.Glu626Asp)
c.2058A>C (p.Glu686Asp)
c.1725A>C (p.Glu575Asp)
7g.117592135A>GCA457448910CFTRc.1968A>G (p.Glu656=)
c.*1682A>G (n.*1682A>G)
c.1785A>G (p.Glu595=)
c.*268A>G (n.*268A>G)
c.*1792A>G (n.*1792A>G)
c.1542A>G (p.Glu514=)
c.1402-10691A>G (n.1402-10691A>G)
c.1878A>G (p.Glu626=)
c.2058A>G (p.Glu686=)
c.1725A>G (p.Glu575=)
7g.117592135A>TCA368979047CFTRc.1968A>T (p.Glu656Asp)
c.*1682A>T (n.*1682A>T)
c.1785A>T (p.Glu595Asp)
c.*268A>T (n.*268A>T)
c.*1792A>T (n.*1792A>T)
c.1542A>T (p.Glu514Asp)
c.1402-10691A>T (n.1402-10691A>T)
c.1878A>T (p.Glu626Asp)
c.2058A>T (p.Glu686Asp)
c.1725A>T (p.Glu575Asp)
7g.117592136A=CA1737394336CFTRc.1969A= (p.Arg657=)
c.*1683A= (n.*1683A=)
c.1786A= (p.Arg596=)
c.*269A= (n.*269A=)
c.*1793A= (n.*1793A=)
c.1543A= (p.Arg515=)
c.1402-10690A= (n.1402-10690A=)
c.1879A= (p.Arg627=)
c.2059A= (p.Arg687=)
c.1726A= (p.Arg576=)
7g.117592136A>CCA457448911CFTRc.1969A>C (p.Arg657=)
c.*1683A>C (n.*1683A>C)
c.1786A>C (p.Arg596=)
c.*269A>C (n.*269A>C)
c.*1793A>C (n.*1793A>C)
c.1543A>C (p.Arg515=)
c.1402-10690A>C (n.1402-10690A>C)
c.1879A>C (p.Arg627=)
c.2059A>C (p.Arg687=)
c.1726A>C (p.Arg576=)
7g.117592136A>GCA368979050CFTRc.1969A>G (p.Arg657Gly)
c.*1683A>G (n.*1683A>G)
c.1786A>G (p.Arg596Gly)
c.*269A>G (n.*269A>G)
c.*1793A>G (n.*1793A>G)
c.1543A>G (p.Arg515Gly)
c.1402-10690A>G (n.1402-10690A>G)
c.1879A>G (p.Arg627Gly)
c.2059A>G (p.Arg687Gly)
c.1726A>G (p.Arg576Gly)
 gnomAD v4
7g.117592136A>TCA368979052CFTRc.1969A>T (p.Arg657Ter)
c.*1683A>T (n.*1683A>T)
c.1786A>T (p.Arg596Ter)
c.*269A>T (n.*269A>T)
c.*1793A>T (n.*1793A>T)
c.1543A>T (p.Arg515Ter)
c.1402-10690A>T (n.1402-10690A>T)
c.1879A>T (p.Arg627Ter)
c.2059A>T (p.Arg687Ter)
c.1726A>T (p.Arg576Ter)
 ClinVar dbSNP
7g.117592137delCA457448912CFTRc.1970del (p.Arg657LysfsTer6)
c.*1684del (n.*1684del)
c.1787del (p.Arg596LysfsTer6)
c.*270del (n.*270del)
c.*1794del (n.*1794del)
c.1544del (p.Arg515LysfsTer6)
c.1402-10689del (n.1402-10689del)
c.1880del (p.Arg627LysfsTer6)
c.2060del (p.Arg687LysfsTer6)
c.1727del (p.Arg576LysfsTer6)
 ClinVar dbSNP
7g.117592137G>ACA368979054CFTRc.1970G>A (p.Arg657Lys)
c.*1684G>A (n.*1684G>A)
c.1787G>A (p.Arg596Lys)
c.*270G>A (n.*270G>A)
c.*1794G>A (n.*1794G>A)
c.1544G>A (p.Arg515Lys)
c.1402-10689G>A (n.1402-10689G>A)
c.1880G>A (p.Arg627Lys)
c.2060G>A (p.Arg687Lys)
c.1727G>A (p.Arg576Lys)
 ClinVar
7g.117592137G>CCA368979058CFTRc.1970G>C (p.Arg657Thr)
c.*1684G>C (n.*1684G>C)
c.1787G>C (p.Arg596Thr)
c.*270G>C (n.*270G>C)
c.*1794G>C (n.*1794G>C)
c.1544G>C (p.Arg515Thr)
c.1402-10689G>C (n.1402-10689G>C)
c.1880G>C (p.Arg627Thr)
c.2060G>C (p.Arg687Thr)
c.1727G>C (p.Arg576Thr)
7g.117592137G>TCA368979060CFTRc.1970G>T (p.Arg657Ile)
c.*1684G>T (n.*1684G>T)
c.1787G>T (p.Arg596Ile)
c.*270G>T (n.*270G>T)
c.*1794G>T (n.*1794G>T)
c.1544G>T (p.Arg515Ile)
c.1402-10689G>T (n.1402-10689G>T)
c.1880G>T (p.Arg627Ile)
c.2060G>T (p.Arg687Ile)
c.1727G>T (p.Arg576Ile)
 gnomAD v4
7g.117592138A>CCA368979063CFTRc.1971A>C (p.Arg657Ser)
c.*1685A>C (n.*1685A>C)
c.1788A>C (p.Arg596Ser)
c.*271A>C (n.*271A>C)
c.*1795A>C (n.*1795A>C)
c.1545A>C (p.Arg515Ser)
c.1402-10688A>C (n.1402-10688A>C)
c.1881A>C (p.Arg627Ser)
c.2061A>C (p.Arg687Ser)
c.1728A>C (p.Arg576Ser)
7g.117592138A>GCA457448913CFTRc.1971A>G (p.Arg657=)
c.*1685A>G (n.*1685A>G)
c.1788A>G (p.Arg596=)
c.*271A>G (n.*271A>G)
c.*1795A>G (n.*1795A>G)
c.1545A>G (p.Arg515=)
c.1402-10688A>G (n.1402-10688A>G)
c.1881A>G (p.Arg627=)
c.2061A>G (p.Arg687=)
c.1728A>G (p.Arg576=)
7g.117592138A>TCA368979064CFTRc.1971A>T (p.Arg657Ser)
c.*1685A>T (n.*1685A>T)
c.1788A>T (p.Arg596Ser)
c.*271A>T (n.*271A>T)
c.*1795A>T (n.*1795A>T)
c.1545A>T (p.Arg515Ser)
c.1402-10688A>T (n.1402-10688A>T)
c.1881A>T (p.Arg627Ser)
c.2061A>T (p.Arg687Ser)
c.1728A>T (p.Arg576Ser)
7g.117592139dupCA2684619355CFTRc.1972dup (p.Arg658LysfsTer7)
c.*1686dup (n.*1686dup)
c.1789dup (p.Arg597LysfsTer7)
c.*272dup (n.*272dup)
c.*1796dup (n.*1796dup)
c.1546dup (p.Arg516LysfsTer7)
c.1402-10687dup (n.1402-10687dup)
c.1882dup (p.Arg628LysfsTer7)
c.2062dup (p.Arg688LysfsTer7)
c.1729dup (p.Arg577LysfsTer7)
 ClinVar gnomAD v4
7g.117592139A>CCA457448914CFTRc.1972A>C (p.Arg658=)
c.*1686A>C (n.*1686A>C)
c.1789A>C (p.Arg597=)
c.*272A>C (n.*272A>C)
c.*1796A>C (n.*1796A>C)
c.1546A>C (p.Arg516=)
c.1402-10687A>C (n.1402-10687A>C)
c.1882A>C (p.Arg628=)
c.2062A>C (p.Arg688=)
c.1729A>C (p.Arg577=)
7g.117592139A>GCA368979068CFTRc.1972A>G (p.Arg658Gly)
c.*1686A>G (n.*1686A>G)
c.1789A>G (p.Arg597Gly)
c.*272A>G (n.*272A>G)
c.*1796A>G (n.*1796A>G)
c.1546A>G (p.Arg516Gly)
c.1402-10687A>G (n.1402-10687A>G)
c.1882A>G (p.Arg628Gly)
c.2062A>G (p.Arg688Gly)
c.1729A>G (p.Arg577Gly)
7g.117592139A>TCA368979069CFTRc.1972A>T (p.Arg658Ter)
c.*1686A>T (n.*1686A>T)
c.1789A>T (p.Arg597Ter)
c.*272A>T (n.*272A>T)
c.*1796A>T (n.*1796A>T)
c.1546A>T (p.Arg516Ter)
c.1402-10687A>T (n.1402-10687A>T)
c.1882A>T (p.Arg628Ter)
c.2062A>T (p.Arg688Ter)
c.1729A>T (p.Arg577Ter)
7g.117592139_117592152delinsAGAAATTCAATCCTCA1737394341CFTRc.1972_1985delinsAGAAATTCAATCCT (p.Arg658=)
c.*1686_*1699delinsAGAAATTCAATCCT (n.*1686_*1699delinsAGAAATTCAATCCT)
c.1789_1802delinsAGAAATTCAATCCT (p.Arg597=)
c.*272_*285delinsAGAAATTCAATCCT (n.*272_*285delinsAGAAATTCAATCCT)
c.*1796_*1809delinsAGAAATTCAATCCT (n.*1796_*1809delinsAGAAATTCAATCCT)
c.1546_1559delinsAGAAATTCAATCCT (p.Arg516=)
c.1402-10687_1402-10674delinsAGAAATTCAATCCT (n.1402-10687_1402-10674delinsAGAAATTCAATCCT)
c.1882_1895delinsAGAAATTCAATCCT (p.Arg628=)
c.2062_2075delinsAGAAATTCAATCCT (p.Arg688=)
c.1729_1742delinsAGAAATTCAATCCT (p.Arg577=)
7g.117592140delCA2580076510CFTRc.1973del (p.Arg658LysfsTer5)
c.*1687del (n.*1687del)
c.1790del (p.Arg597LysfsTer5)
c.*273del (n.*273del)
c.*1797del (n.*1797del)
c.1547del (p.Arg516LysfsTer5)
c.1402-10686del (n.1402-10686del)
c.1883del (p.Arg628LysfsTer5)
c.2063del (p.Arg688LysfsTer5)
c.1730del (p.Arg577LysfsTer5)
 ClinVar
7g.117592140G>ACA368979079CFTRc.1973G>A (p.Arg658Lys)
c.*1687G>A (n.*1687G>A)
c.1790G>A (p.Arg597Lys)
c.*273G>A (n.*273G>A)
c.*1797G>A (n.*1797G>A)
c.1547G>A (p.Arg516Lys)
c.1402-10686G>A (n.1402-10686G>A)
c.1883G>A (p.Arg628Lys)
c.2063G>A (p.Arg688Lys)
c.1730G>A (p.Arg577Lys)
 dbSNP COSMIC
7g.117592140G>CCA368979077CFTRc.1973G>C (p.Arg658Thr)
c.*1687G>C (n.*1687G>C)
c.1790G>C (p.Arg597Thr)
c.*273G>C (n.*273G>C)
c.*1797G>C (n.*1797G>C)
c.1547G>C (p.Arg516Thr)
c.1402-10686G>C (n.1402-10686G>C)
c.1883G>C (p.Arg628Thr)
c.2063G>C (p.Arg688Thr)
c.1730G>C (p.Arg577Thr)
7g.117592140G>TCA368979073CFTRc.1973G>T (p.Arg658Ile)
c.*1687G>T (n.*1687G>T)
c.1790G>T (p.Arg597Ile)
c.*273G>T (n.*273G>T)
c.*1797G>T (n.*1797G>T)
c.1547G>T (p.Arg516Ile)
c.1402-10686G>T (n.1402-10686G>T)
c.1883G>T (p.Arg628Ile)
c.2063G>T (p.Arg688Ile)
c.1730G>T (p.Arg577Ile)
7g.117592140_117592141delinsGACA1737394352CFTRc.1973_1974delinsGA (p.Arg658=)
c.*1687_*1688delinsGA (n.*1687_*1688delinsGA)
c.1790_1791delinsGA (p.Arg597=)
c.*273_*274delinsGA (n.*273_*274delinsGA)
c.*1797_*1798delinsGA (n.*1797_*1798delinsGA)
c.1547_1548delinsGA (p.Arg516=)
c.1402-10686_1402-10685delinsGA (n.1402-10686_1402-10685delinsGA)
c.1883_1884delinsGA (p.Arg628=)
c.2063_2064delinsGA (p.Arg688=)
c.1730_1731delinsGA (p.Arg577=)
7g.117592140_117592152delinsAGAACA2695208506CFTRc.1973_1985delinsAGAA (p.Arg658_Leu662delinsLysLys)
c.*1687_*1699delinsAGAA (n.*1687_*1699delinsAGAA)
c.1790_1802delinsAGAA (p.Arg597_Leu601delinsLysLys)
c.*273_*285delinsAGAA (n.*273_*285delinsAGAA)
c.*1797_*1809delinsAGAA (n.*1797_*1809delinsAGAA)
c.1547_1559delinsAGAA (p.Arg516_Leu520delinsLysLys)
c.1402-10686_1402-10674delinsAGAA (n.1402-10686_1402-10674delinsAGAA)
c.1883_1895delinsAGAA (p.Arg628_Leu632delinsLysLys)
c.2063_2075delinsAGAA (p.Arg688_Leu692delinsLysLys)
c.1730_1742delinsAGAA (p.Arg577_Leu581delinsLysLys)
7g.117592140_117592152delinsAGAAACA326721CFTRc.1973_1985delinsAGAAA (p.Arg658LysfsTer4)
c.*1687_*1699delinsAGAAA (n.*1687_*1699delinsAGAAA)
c.1790_1802delinsAGAAA (p.Arg597LysfsTer4)
c.*273_*285delinsAGAAA (n.*273_*285delinsAGAAA)
c.*1797_*1809delinsAGAAA (n.*1797_*1809delinsAGAAA)
c.1547_1559delinsAGAAA (p.Arg516LysfsTer4)
c.1402-10686_1402-10674delinsAGAAA (n.1402-10686_1402-10674delinsAGAAA)
c.1883_1895delinsAGAAA (p.Arg628LysfsTer4)
c.2063_2075delinsAGAAA (p.Arg688LysfsTer4)
c.1730_1742delinsAGAAA (p.Arg577LysfsTer4)
 ClinVar dbSNP
7g.117592141A>CCA368979082CFTRc.1974A>C (p.Arg658Ser)
c.*1688A>C (n.*1688A>C)
c.1791A>C (p.Arg597Ser)
c.*274A>C (n.*274A>C)
c.*1798A>C (n.*1798A>C)
c.1548A>C (p.Arg516Ser)
c.1402-10685A>C (n.1402-10685A>C)
c.1884A>C (p.Arg628Ser)
c.2064A>C (p.Arg688Ser)
c.1731A>C (p.Arg577Ser)
7g.117592141A>GCA457448915CFTRc.1974A>G (p.Arg658=)
c.*1688A>G (n.*1688A>G)
c.1791A>G (p.Arg597=)
c.*274A>G (n.*274A>G)
c.*1798A>G (n.*1798A>G)
c.1548A>G (p.Arg516=)
c.1402-10685A>G (n.1402-10685A>G)
c.1884A>G (p.Arg628=)
c.2064A>G (p.Arg688=)
c.1731A>G (p.Arg577=)
 ClinVar dbSNP gnomAD v4
7g.117592141A>TCA368979084CFTRc.1974A>T (p.Arg658Ser)
c.*1688A>T (n.*1688A>T)
c.1791A>T (p.Arg597Ser)
c.*274A>T (n.*274A>T)
c.*1798A>T (n.*1798A>T)
c.1548A>T (p.Arg516Ser)
c.1402-10685A>T (n.1402-10685A>T)
c.1884A>T (p.Arg628Ser)
c.2064A>T (p.Arg688Ser)
c.1731A>T (p.Arg577Ser)
7g.117592141_117592142insGAAAACA923726133CFTRc.1974_1975insGAAAA (p.Asn659GlufsTer6)
c.*1688_*1689insGAAAA (n.*1688_*1689insGAAAA)
c.1791_1792insGAAAA (p.Asn598GlufsTer6)
c.*274_*275insGAAAA (n.*274_*275insGAAAA)
c.*1798_*1799insGAAAA (n.*1798_*1799insGAAAA)
c.1548_1549insGAAAA (p.Asn517GlufsTer6)
c.1402-10685_1402-10684insGAAAA (n.1402-10685_1402-10684insGAAAA)
c.1884_1885insGAAAA (p.Asn629GlufsTer6)
c.2064_2065insGAAAA (p.Asn689GlufsTer6)
c.1731_1732insGAAAA (p.Asn578GlufsTer6)
7g.117592143delCA326722CFTRc.1976del (p.Asn659IlefsTer4)
c.*1690del (n.*1690del)
c.1793del (p.Asn598IlefsTer4)
c.*276del (n.*276del)
c.*1800del (n.*1800del)
c.1550del (p.Asn517IlefsTer4)
c.1402-10683del (n.1402-10683del)
c.1886del (p.Asn629IlefsTer4)
c.2066del (p.Asn689IlefsTer4)
c.1733del (p.Asn578IlefsTer4)
 ClinVar dbSNP
7g.117592142A>CCA368979088CFTRc.1975A>C (p.Asn659His)
c.*1689A>C (n.*1689A>C)
c.1792A>C (p.Asn598His)
c.*275A>C (n.*275A>C)
c.*1799A>C (n.*1799A>C)
c.1549A>C (p.Asn517His)
c.1402-10684A>C (n.1402-10684A>C)
c.1885A>C (p.Asn629His)
c.2065A>C (p.Asn689His)
c.1732A>C (p.Asn578His)
7g.117592142A>GCA368979090CFTRc.1975A>G (p.Asn659Asp)
c.*1689A>G (n.*1689A>G)
c.1792A>G (p.Asn598Asp)
c.*275A>G (n.*275A>G)
c.*1799A>G (n.*1799A>G)
c.1549A>G (p.Asn517Asp)
c.1402-10684A>G (n.1402-10684A>G)
c.1885A>G (p.Asn629Asp)
c.2065A>G (p.Asn689Asp)
c.1732A>G (p.Asn578Asp)
7g.117592142A>TCA368979092CFTRc.1975A>T (p.Asn659Tyr)
c.*1689A>T (n.*1689A>T)
c.1792A>T (p.Asn598Tyr)
c.*275A>T (n.*275A>T)
c.*1799A>T (n.*1799A>T)
c.1549A>T (p.Asn517Tyr)
c.1402-10684A>T (n.1402-10684A>T)
c.1885A>T (p.Asn629Tyr)
c.2065A>T (p.Asn689Tyr)
c.1732A>T (p.Asn578Tyr)
7g.117592143A>CCA368979095CFTRc.1976A>C (p.Asn659Thr)
c.*1690A>C (n.*1690A>C)
c.1793A>C (p.Asn598Thr)
c.*276A>C (n.*276A>C)
c.*1800A>C (n.*1800A>C)
c.1550A>C (p.Asn517Thr)
c.1402-10683A>C (n.1402-10683A>C)
c.1886A>C (p.Asn629Thr)
c.2066A>C (p.Asn689Thr)
c.1733A>C (p.Asn578Thr)
7g.117592143A>GCA368979097CFTRc.1976A>G (p.Asn659Ser)
c.*1690A>G (n.*1690A>G)
c.1793A>G (p.Asn598Ser)
c.*276A>G (n.*276A>G)
c.*1800A>G (n.*1800A>G)
c.1550A>G (p.Asn517Ser)
c.1402-10683A>G (n.1402-10683A>G)
c.1886A>G (p.Asn629Ser)
c.2066A>G (p.Asn689Ser)
c.1733A>G (p.Asn578Ser)
7g.117592143A>TCA368979099CFTRc.1976A>T (p.Asn659Ile)
c.*1690A>T (n.*1690A>T)
c.1793A>T (p.Asn598Ile)
c.*276A>T (n.*276A>T)
c.*1800A>T (n.*1800A>T)
c.1550A>T (p.Asn517Ile)
c.1402-10683A>T (n.1402-10683A>T)
c.1886A>T (p.Asn629Ile)
c.2066A>T (p.Asn689Ile)
c.1733A>T (p.Asn578Ile)
7g.117592144T>ACA368979102CFTRc.1977T>A (p.Asn659Lys)
c.*1691T>A (n.*1691T>A)
c.1794T>A (p.Asn598Lys)
c.*277T>A (n.*277T>A)
c.*1801T>A (n.*1801T>A)
c.1551T>A (p.Asn517Lys)
c.1402-10682T>A (n.1402-10682T>A)
c.1887T>A (p.Asn629Lys)
c.2067T>A (p.Asn689Lys)
c.1734T>A (p.Asn578Lys)
7g.117592144T>CCA457448919CFTRc.1977T>C (p.Asn659=)
c.*1691T>C (n.*1691T>C)
c.1794T>C (p.Asn598=)
c.*277T>C (n.*277T>C)
c.*1801T>C (n.*1801T>C)
c.1551T>C (p.Asn517=)
c.1402-10682T>C (n.1402-10682T>C)
c.1887T>C (p.Asn629=)
c.2067T>C (p.Asn689=)
c.1734T>C (p.Asn578=)
7g.117592144T>GCA368979104CFTRc.1977T>G (p.Asn659Lys)
c.*1691T>G (n.*1691T>G)
c.1794T>G (p.Asn598Lys)
c.*277T>G (n.*277T>G)
c.*1801T>G (n.*1801T>G)
c.1551T>G (p.Asn517Lys)
c.1402-10682T>G (n.1402-10682T>G)
c.1887T>G (p.Asn629Lys)
c.2067T>G (p.Asn689Lys)
c.1734T>G (p.Asn578Lys)
7g.117592144_117592152delCA2684619356CFTRc.1977_1985del (p.Asn659_Leu662delinsLys)
c.*1691_*1699del (n.*1691_*1699del)
c.1794_1802del (p.Asn598_Leu601delinsLys)
c.*277_*285del (n.*277_*285del)
c.*1801_*1809del (n.*1801_*1809del)
c.1551_1559del (p.Asn517_Leu520delinsLys)
c.1402-10682_1402-10674del (n.1402-10682_1402-10674del)
c.1887_1895del (p.Asn629_Leu632delinsLys)
c.2067_2075del (p.Asn689_Leu692delinsLys)
c.1734_1742del (p.Asn578_Leu581delinsLys)
 gnomAD v4
7g.117592145T>ACA368979112CFTRc.1978T>A (p.Ser660Thr)
c.*1692T>A (n.*1692T>A)
c.1795T>A (p.Ser599Thr)
c.*278T>A (n.*278T>A)
c.*1802T>A (n.*1802T>A)
c.1552T>A (p.Ser518Thr)
c.1402-10681T>A (n.1402-10681T>A)
c.1888T>A (p.Ser630Thr)
c.2068T>A (p.Ser690Thr)
c.1735T>A (p.Ser579Thr)
7g.117592145T>CCA368979107CFTRc.1978T>C (p.Ser660Pro)
c.*1692T>C (n.*1692T>C)
c.1795T>C (p.Ser599Pro)
c.*278T>C (n.*278T>C)
c.*1802T>C (n.*1802T>C)
c.1552T>C (p.Ser518Pro)
c.1402-10681T>C (n.1402-10681T>C)
c.1888T>C (p.Ser630Pro)
c.2068T>C (p.Ser690Pro)
c.1735T>C (p.Ser579Pro)
 gnomAD v4
7g.117592145T>GCA368979110CFTRc.1978T>G (p.Ser660Ala)
c.*1692T>G (n.*1692T>G)
c.1795T>G (p.Ser599Ala)
c.*278T>G (n.*278T>G)
c.*1802T>G (n.*1802T>G)
c.1552T>G (p.Ser518Ala)
c.1402-10681T>G (n.1402-10681T>G)
c.1888T>G (p.Ser630Ala)
c.2068T>G (p.Ser690Ala)
c.1735T>G (p.Ser579Ala)
7g.117592146C>ACA368979115CFTRc.1979C>A (p.Ser660Ter)
c.*1693C>A (n.*1693C>A)
c.1796C>A (p.Ser599Ter)
c.*279C>A (n.*279C>A)
c.*1803C>A (n.*1803C>A)
c.1553C>A (p.Ser518Ter)
c.1402-10680C>A (n.1402-10680C>A)
c.1889C>A (p.Ser630Ter)
c.2069C>A (p.Ser690Ter)
c.1736C>A (p.Ser579Ter)
7g.117592146C=CA1737394364CFTRc.1979C= (p.Ser660=)
c.*1693C= (n.*1693C=)
c.1796C= (p.Ser599=)
c.*279C= (n.*279C=)
c.*1803C= (n.*1803C=)
c.1553C= (p.Ser518=)
c.1402-10680C= (n.1402-10680C=)
c.1889C= (p.Ser630=)
c.2069C= (p.Ser690=)
c.1736C= (p.Ser579=)
7g.117592146C>GCA368979116CFTRc.1979C>G (p.Ser660Ter)
c.*1693C>G (n.*1693C>G)
c.1796C>G (p.Ser599Ter)
c.*279C>G (n.*279C>G)
c.*1803C>G (n.*1803C>G)
c.1553C>G (p.Ser518Ter)
c.1402-10680C>G (n.1402-10680C>G)
c.1889C>G (p.Ser630Ter)
c.2069C>G (p.Ser690Ter)
c.1736C>G (p.Ser579Ter)
 ClinVar dbSNP COSMIC
7g.117592146C>TCA368979118CFTRc.1979C>T (p.Ser660Leu)
c.*1693C>T (n.*1693C>T)
c.1796C>T (p.Ser599Leu)
c.*279C>T (n.*279C>T)
c.*1803C>T (n.*1803C>T)
c.1553C>T (p.Ser518Leu)
c.1402-10680C>T (n.1402-10680C>T)
c.1889C>T (p.Ser630Leu)
c.2069C>T (p.Ser690Leu)
c.1736C>T (p.Ser579Leu)
 COSMIC
7g.117592146_117592147delinsCACA1737394363CFTRc.1979_1980delinsCA (p.Ser660=)
c.*1693_*1694delinsCA (n.*1693_*1694delinsCA)
c.1796_1797delinsCA (p.Ser599=)
c.*279_*280delinsCA (n.*279_*280delinsCA)
c.*1803_*1804delinsCA (n.*1803_*1804delinsCA)
c.1553_1554delinsCA (p.Ser518=)
c.1402-10680_1402-10679delinsCA (n.1402-10680_1402-10679delinsCA)
c.1889_1890delinsCA (p.Ser630=)
c.2069_2070delinsCA (p.Ser690=)
c.1736_1737delinsCA (p.Ser579=)
7g.117592147A>CCA457448920CFTRc.1980A>C (p.Ser660=)
c.*1694A>C (n.*1694A>C)
c.1797A>C (p.Ser599=)
c.*280A>C (n.*280A>C)
c.*1804A>C (n.*1804A>C)
c.1554A>C (p.Ser518=)
c.1402-10679A>C (n.1402-10679A>C)
c.1890A>C (p.Ser630=)
c.2070A>C (p.Ser690=)
c.1737A>C (p.Ser579=)
7g.117592147A>GCA457448922CFTRc.1980A>G (p.Ser660=)
c.*1694A>G (n.*1694A>G)
c.1797A>G (p.Ser599=)
c.*280A>G (n.*280A>G)
c.*1804A>G (n.*1804A>G)
c.1554A>G (p.Ser518=)
c.1402-10679A>G (n.1402-10679A>G)
c.1890A>G (p.Ser630=)
c.2070A>G (p.Ser690=)
c.1737A>G (p.Ser579=)
7g.117592147A>TCA457448923CFTRc.1980A>T (p.Ser660=)
c.*1694A>T (n.*1694A>T)
c.1797A>T (p.Ser599=)
c.*280A>T (n.*280A>T)
c.*1804A>T (n.*1804A>T)
c.1554A>T (p.Ser518=)
c.1402-10679A>T (n.1402-10679A>T)
c.1890A>T (p.Ser630=)
c.2070A>T (p.Ser690=)
c.1737A>T (p.Ser579=)
7g.117592148delCA326723CFTRc.1981del (p.Ile661SerfsTer2)
c.*1695del (n.*1695del)
c.1798del (p.Ile600SerfsTer2)
c.*281del (n.*281del)
c.*1805del (n.*1805del)
c.1555del (p.Ile519SerfsTer2)
c.1402-10678del (n.1402-10678del)
c.1891del (p.Ile631SerfsTer2)
c.2071del (p.Ile691SerfsTer2)
c.1738del (p.Ile580SerfsTer2)
 ClinVar dbSNP
7g.117592148A=CA1737394376CFTRc.1981A= (p.Ile661=)
c.*1695A= (n.*1695A=)
c.1798A= (p.Ile600=)
c.*281A= (n.*281A=)
c.*1805A= (n.*1805A=)
c.1555A= (p.Ile519=)
c.1402-10678A= (n.1402-10678A=)
c.1891A= (p.Ile631=)
c.2071A= (p.Ile691=)
c.1738A= (p.Ile580=)
7g.117592148A>CCA368979124CFTRc.1981A>C (p.Ile661Leu)
c.*1695A>C (n.*1695A>C)
c.1798A>C (p.Ile600Leu)
c.*281A>C (n.*281A>C)
c.*1805A>C (n.*1805A>C)
c.1555A>C (p.Ile519Leu)
c.1402-10678A>C (n.1402-10678A>C)
c.1891A>C (p.Ile631Leu)
c.2071A>C (p.Ile691Leu)
c.1738A>C (p.Ile580Leu)
7g.117592148A>GCA164947651CFTRc.1981A>G (p.Ile661Val)
c.*1695A>G (n.*1695A>G)
c.1798A>G (p.Ile600Val)
c.*281A>G (n.*281A>G)
c.*1805A>G (n.*1805A>G)
c.1555A>G (p.Ile519Val)
c.1402-10678A>G (n.1402-10678A>G)
c.1891A>G (p.Ile631Val)
c.2071A>G (p.Ile691Val)
c.1738A>G (p.Ile580Val)
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.117592148A>TCA368979128CFTRc.1981A>T (p.Ile661Phe)
c.*1695A>T (n.*1695A>T)
c.1798A>T (p.Ile600Phe)
c.*281A>T (n.*281A>T)
c.*1805A>T (n.*1805A>T)
c.1555A>T (p.Ile519Phe)
c.1402-10678A>T (n.1402-10678A>T)
c.1891A>T (p.Ile631Phe)
c.2071A>T (p.Ile691Phe)
c.1738A>T (p.Ile580Phe)
7g.117592149T>ACA368979130CFTRc.1982T>A (p.Ile661Asn)
c.*1696T>A (n.*1696T>A)
c.1799T>A (p.Ile600Asn)
c.*282T>A (n.*282T>A)
c.*1806T>A (n.*1806T>A)
c.1556T>A (p.Ile519Asn)
c.1402-10677T>A (n.1402-10677T>A)
c.1892T>A (p.Ile631Asn)
c.2072T>A (p.Ile691Asn)
c.1739T>A (p.Ile580Asn)
7g.117592149T>CCA368979132CFTRc.1982T>C (p.Ile661Thr)
c.*1696T>C (n.*1696T>C)
c.1799T>C (p.Ile600Thr)
c.*282T>C (n.*282T>C)
c.*1806T>C (n.*1806T>C)
c.1556T>C (p.Ile519Thr)
c.1402-10677T>C (n.1402-10677T>C)
c.1892T>C (p.Ile631Thr)
c.2072T>C (p.Ile691Thr)
c.1739T>C (p.Ile580Thr)
 dbSNP gnomAD v2 gnomAD v4
7g.117592149T>GCA368979133CFTRc.1982T>G (p.Ile661Ser)
c.*1696T>G (n.*1696T>G)
c.1799T>G (p.Ile600Ser)
c.*282T>G (n.*282T>G)
c.*1806T>G (n.*1806T>G)
c.1556T>G (p.Ile519Ser)
c.1402-10677T>G (n.1402-10677T>G)
c.1892T>G (p.Ile631Ser)
c.2072T>G (p.Ile691Ser)
c.1739T>G (p.Ile580Ser)
7g.117592149T=CA1737394378CFTRc.1982T= (p.Ile661=)
c.*1696T= (n.*1696T=)
c.1799T= (p.Ile600=)
c.*282T= (n.*282T=)
c.*1806T= (n.*1806T=)
c.1556T= (p.Ile519=)
c.1402-10677T= (n.1402-10677T=)
c.1892T= (p.Ile631=)
c.2072T= (p.Ile691=)
c.1739T= (p.Ile580=)
7g.117592150C>ACA457448926CFTRc.1983C>A (p.Ile661=)
c.*1697C>A (n.*1697C>A)
c.1800C>A (p.Ile600=)
c.*283C>A (n.*283C>A)
c.*1807C>A (n.*1807C>A)
c.1557C>A (p.Ile519=)
c.1402-10676C>A (n.1402-10676C>A)
c.1893C>A (p.Ile631=)
c.2073C>A (p.Ile691=)
c.1740C>A (p.Ile580=)
7g.117592150C=CA1737394383CFTRc.1983C= (p.Ile661=)
c.*1697C= (n.*1697C=)
c.1800C= (p.Ile600=)
c.*283C= (n.*283C=)
c.*1807C= (n.*1807C=)
c.1557C= (p.Ile519=)
c.1402-10676C= (n.1402-10676C=)
c.1893C= (p.Ile631=)
c.2073C= (p.Ile691=)
c.1740C= (p.Ile580=)
7g.117592150C>GCA368979135CFTRc.1983C>G (p.Ile661Met)
c.*1697C>G (n.*1697C>G)
c.1800C>G (p.Ile600Met)
c.*283C>G (n.*283C>G)
c.*1807C>G (n.*1807C>G)
c.1557C>G (p.Ile519Met)
c.1402-10676C>G (n.1402-10676C>G)
c.1893C>G (p.Ile631Met)
c.2073C>G (p.Ile691Met)
c.1740C>G (p.Ile580Met)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.117592150C>TCA457448927CFTRc.1983C>T (p.Ile661=)
c.*1697C>T (n.*1697C>T)
c.1800C>T (p.Ile600=)
c.*283C>T (n.*283C>T)
c.*1807C>T (n.*1807C>T)
c.1557C>T (p.Ile519=)
c.1402-10676C>T (n.1402-10676C>T)
c.1893C>T (p.Ile631=)
c.2073C>T (p.Ile691=)
c.1740C>T (p.Ile580=)
7g.117592150_117592154delinsCCTAACA1737394382CFTRc.1983_1987delinsCCTAA (p.Ile661=)
c.*1697_*1701delinsCCTAA (n.*1697_*1701delinsCCTAA)
c.1800_1804delinsCCTAA (p.Ile600=)
c.*283_*287delinsCCTAA (n.*283_*287delinsCCTAA)
c.*1807_*1811delinsCCTAA (n.*1807_*1811delinsCCTAA)
c.1557_1561delinsCCTAA (p.Ile519=)
c.1402-10676_1402-10672delinsCCTAA (n.1402-10676_1402-10672delinsCCTAA)
c.1893_1897delinsCCTAA (p.Ile631=)
c.2073_2077delinsCCTAA (p.Ile691=)
c.1740_1744delinsCCTAA (p.Ile580=)
7g.117592151C>ACA368979136CFTRc.1984C>A (p.Leu662Ile)
c.*1698C>A (n.*1698C>A)
c.1801C>A (p.Leu601Ile)
c.*284C>A (n.*284C>A)
c.*1808C>A (n.*1808C>A)
c.1558C>A (p.Leu520Ile)
c.1402-10675C>A (n.1402-10675C>A)
c.1894C>A (p.Leu632Ile)
c.2074C>A (p.Leu692Ile)
c.1741C>A (p.Leu581Ile)
7g.117592151C>GCA368979137CFTRc.1984C>G (p.Leu662Val)
c.*1698C>G (n.*1698C>G)
c.1801C>G (p.Leu601Val)
c.*284C>G (n.*284C>G)
c.*1808C>G (n.*1808C>G)
c.1558C>G (p.Leu520Val)
c.1402-10675C>G (n.1402-10675C>G)
c.1894C>G (p.Leu632Val)
c.2074C>G (p.Leu692Val)
c.1741C>G (p.Leu581Val)
7g.117592151C>TCA457448928CFTRc.1984C>T (p.Leu662=)
c.*1698C>T (n.*1698C>T)
c.1801C>T (p.Leu601=)
c.*284C>T (n.*284C>T)
c.*1808C>T (n.*1808C>T)
c.1558C>T (p.Leu520=)
c.1402-10675C>T (n.1402-10675C>T)
c.1894C>T (p.Leu632=)
c.2074C>T (p.Leu692=)
c.1741C>T (p.Leu581=)
7g.117592153_117592156delCA326724CFTRc.1986_1989del (p.Thr663ArgfsTer8)
c.*1700_*1703del (n.*1700_*1703del)
c.1803_1806del (p.Thr602ArgfsTer8)
c.*286_*289del (n.*286_*289del)
c.*1810_*1813del (n.*1810_*1813del)
c.1560_1563del (p.Thr521ArgfsTer8)
c.1402-10673_1402-10670del (n.1402-10673_1402-10670del)
c.1896_1899del (p.Thr633ArgfsTer8)
c.2076_2079del (p.Thr693ArgfsTer8)
c.1743_1746del (p.Thr582ArgfsTer8)
 ClinVar dbSNP gnomAD v4
7g.117592152T>ACA368979138CFTRc.1985T>A (p.Leu662Gln)
c.*1699T>A (n.*1699T>A)
c.1802T>A (p.Leu601Gln)
c.*285T>A (n.*285T>A)
c.*1809T>A (n.*1809T>A)
c.1559T>A (p.Leu520Gln)
c.1402-10674T>A (n.1402-10674T>A)
c.1895T>A (p.Leu632Gln)
c.2075T>A (p.Leu692Gln)
c.1742T>A (p.Leu581Gln)
7g.117592152T>CCA368979139CFTRc.1985T>C (p.Leu662Pro)
c.*1699T>C (n.*1699T>C)
c.1802T>C (p.Leu601Pro)
c.*285T>C (n.*285T>C)
c.*1809T>C (n.*1809T>C)
c.1559T>C (p.Leu520Pro)
c.1402-10674T>C (n.1402-10674T>C)
c.1895T>C (p.Leu632Pro)
c.2075T>C (p.Leu692Pro)
c.1742T>C (p.Leu581Pro)
7g.117592152T>GCA368979140CFTRc.1985T>G (p.Leu662Arg)
c.*1699T>G (n.*1699T>G)
c.1802T>G (p.Leu601Arg)
c.*285T>G (n.*285T>G)
c.*1809T>G (n.*1809T>G)
c.1559T>G (p.Leu520Arg)
c.1402-10674T>G (n.1402-10674T>G)
c.1895T>G (p.Leu632Arg)
c.2075T>G (p.Leu692Arg)
c.1742T>G (p.Leu581Arg)
 gnomAD v4
7g.117592153A>CCA457448930CFTRc.1986A>C (p.Leu662=)
c.*1700A>C (n.*1700A>C)
c.1803A>C (p.Leu601=)
c.*286A>C (n.*286A>C)
c.*1810A>C (n.*1810A>C)
c.1560A>C (p.Leu520=)
c.1402-10673A>C (n.1402-10673A>C)
c.1896A>C (p.Leu632=)
c.2076A>C (p.Leu692=)
c.1743A>C (p.Leu581=)
7g.117592153A>GCA457448931CFTRc.1986A>G (p.Leu662=)
c.*1700A>G (n.*1700A>G)
c.1803A>G (p.Leu601=)
c.*286A>G (n.*286A>G)
c.*1810A>G (n.*1810A>G)
c.1560A>G (p.Leu520=)
c.1402-10673A>G (n.1402-10673A>G)
c.1896A>G (p.Leu632=)
c.2076A>G (p.Leu692=)
c.1743A>G (p.Leu581=)
7g.117592153A>TCA457448933CFTRc.1986A>T (p.Leu662=)
c.*1700A>T (n.*1700A>T)
c.1803A>T (p.Leu601=)
c.*286A>T (n.*286A>T)
c.*1810A>T (n.*1810A>T)
c.1560A>T (p.Leu520=)
c.1402-10673A>T (n.1402-10673A>T)
c.1896A>T (p.Leu632=)
c.2076A>T (p.Leu692=)
c.1743A>T (p.Leu581=)
7g.117592154A=CA1737394394CFTRc.1987A= (p.Thr663=)
c.*1701A= (n.*1701A=)
c.1804A= (p.Thr602=)
c.*287A= (n.*287A=)
c.*1811A= (n.*1811A=)
c.1561A= (p.Thr521=)
c.1402-10672A= (n.1402-10672A=)
c.1897A= (p.Thr633=)
c.2077A= (p.Thr693=)
c.1744A= (p.Thr582=)
7g.117592154A>CCA368979141CFTRc.1987A>C (p.Thr663Pro)
c.*1701A>C (n.*1701A>C)
c.1804A>C (p.Thr602Pro)
c.*287A>C (n.*287A>C)
c.*1811A>C (n.*1811A>C)
c.1561A>C (p.Thr521Pro)
c.1402-10672A>C (n.1402-10672A>C)
c.1897A>C (p.Thr633Pro)
c.2077A>C (p.Thr693Pro)
c.1744A>C (p.Thr582Pro)
7g.117592154A>GCA368979142CFTRc.1987A>G (p.Thr663Ala)
c.*1701A>G (n.*1701A>G)
c.1804A>G (p.Thr602Ala)
c.*287A>G (n.*287A>G)
c.*1811A>G (n.*1811A>G)
c.1561A>G (p.Thr521Ala)
c.1402-10672A>G (n.1402-10672A>G)
c.1897A>G (p.Thr633Ala)
c.2077A>G (p.Thr693Ala)
c.1744A>G (p.Thr582Ala)
7g.117592154A>TCA368979143CFTRc.1987A>T (p.Thr663Ser)
c.*1701A>T (n.*1701A>T)
c.1804A>T (p.Thr602Ser)
c.*287A>T (n.*287A>T)
c.*1811A>T (n.*1811A>T)
c.1561A>T (p.Thr521Ser)
c.1402-10672A>T (n.1402-10672A>T)
c.1897A>T (p.Thr633Ser)
c.2077A>T (p.Thr693Ser)
c.1744A>T (p.Thr582Ser)
 dbSNP gnomAD v2 gnomAD v4
7g.117592155C>ACA368979144CFTRc.1988C>A (p.Thr663Asn)
c.*1702C>A (n.*1702C>A)
c.1805C>A (p.Thr602Asn)
c.*288C>A (n.*288C>A)
c.*1812C>A (n.*1812C>A)
c.1562C>A (p.Thr521Asn)
c.1402-10671C>A (n.1402-10671C>A)
c.1898C>A (p.Thr633Asn)
c.2078C>A (p.Thr693Asn)
c.1745C>A (p.Thr582Asn)
7g.117592155C>GCA368979145CFTRc.1988C>G (p.Thr663Ser)
c.*1702C>G (n.*1702C>G)
c.1805C>G (p.Thr602Ser)
c.*288C>G (n.*288C>G)
c.*1812C>G (n.*1812C>G)
c.1562C>G (p.Thr521Ser)
c.1402-10671C>G (n.1402-10671C>G)
c.1898C>G (p.Thr633Ser)
c.2078C>G (p.Thr693Ser)
c.1745C>G (p.Thr582Ser)
7g.117592155C>TCA368979146CFTRc.1988C>T (p.Thr663Ile)
c.*1702C>T (n.*1702C>T)
c.1805C>T (p.Thr602Ile)
c.*288C>T (n.*288C>T)
c.*1812C>T (n.*1812C>T)
c.1562C>T (p.Thr521Ile)
c.1402-10671C>T (n.1402-10671C>T)
c.1898C>T (p.Thr633Ile)
c.2078C>T (p.Thr693Ile)
c.1745C>T (p.Thr582Ile)
7g.117592156T>ACA457448939CFTRc.1989T>A (p.Thr663=)
c.*1703T>A (n.*1703T>A)
c.1806T>A (p.Thr602=)
c.*289T>A (n.*289T>A)
c.*1813T>A (n.*1813T>A)
c.1563T>A (p.Thr521=)
c.1402-10670T>A (n.1402-10670T>A)
c.1899T>A (p.Thr633=)
c.2079T>A (p.Thr693=)
c.1746T>A (p.Thr582=)
7g.117592156T>CCA457448937CFTRc.1989T>C (p.Thr663=)
c.*1703T>C (n.*1703T>C)
c.1806T>C (p.Thr602=)
c.*289T>C (n.*289T>C)
c.*1813T>C (n.*1813T>C)
c.1563T>C (p.Thr521=)
c.1402-10670T>C (n.1402-10670T>C)
c.1899T>C (p.Thr633=)
c.2079T>C (p.Thr693=)
c.1746T>C (p.Thr582=)
 dbSNP
7g.117592156T>GCA457448934CFTRc.1989T>G (p.Thr663=)
c.*1703T>G (n.*1703T>G)
c.1806T>G (p.Thr602=)
c.*289T>G (n.*289T>G)
c.*1813T>G (n.*1813T>G)
c.1563T>G (p.Thr521=)
c.1402-10670T>G (n.1402-10670T>G)
c.1899T>G (p.Thr633=)
c.2079T>G (p.Thr693=)
c.1746T>G (p.Thr582=)
7g.117592156T=CA1737394398CFTRc.1989T= (p.Thr663=)
c.*1703T= (n.*1703T=)
c.1806T= (p.Thr602=)
c.*289T= (n.*289T=)
c.*1813T= (n.*1813T=)
c.1563T= (p.Thr521=)
c.1402-10670T= (n.1402-10670T=)
c.1899T= (p.Thr633=)
c.2079T= (p.Thr693=)
c.1746T= (p.Thr582=)
7g.117592157G>ACA368979147CFTRc.1990G>A (p.Glu664Lys)
c.*1704G>A (n.*1704G>A)
c.1807G>A (p.Glu603Lys)
c.*290G>A (n.*290G>A)
c.*1814G>A (n.*1814G>A)
c.1564G>A (p.Glu522Lys)
c.1402-10669G>A (n.1402-10669G>A)
c.1900G>A (p.Glu634Lys)
c.2080G>A (p.Glu694Lys)
c.1747G>A (p.Glu583Lys)
7g.117592157G>CCA368979148CFTRc.1990G>C (p.Glu664Gln)
c.*1704G>C (n.*1704G>C)
c.1807G>C (p.Glu603Gln)
c.*290G>C (n.*290G>C)
c.*1814G>C (n.*1814G>C)
c.1564G>C (p.Glu522Gln)
c.1402-10669G>C (n.1402-10669G>C)
c.1900G>C (p.Glu634Gln)
c.2080G>C (p.Glu694Gln)
c.1747G>C (p.Glu583Gln)
 ClinVar dbSNP
7g.117592157G=CA1737394406CFTRc.1990G= (p.Glu664=)
c.*1704G= (n.*1704G=)
c.1807G= (p.Glu603=)
c.*290G= (n.*290G=)
c.*1814G= (n.*1814G=)
c.1564G= (p.Glu522=)
c.1402-10669G= (n.1402-10669G=)
c.1900G= (p.Glu634=)
c.2080G= (p.Glu694=)
c.1747G= (p.Glu583=)
7g.117592157G>TCA326725CFTRc.1990G>T (p.Glu664Ter)
c.*1704G>T (n.*1704G>T)
c.1807G>T (p.Glu603Ter)
c.*290G>T (n.*290G>T)
c.*1814G>T (n.*1814G>T)
c.1564G>T (p.Glu522Ter)
c.1402-10669G>T (n.1402-10669G>T)
c.1900G>T (p.Glu634Ter)
c.2080G>T (p.Glu694Ter)
c.1747G>T (p.Glu583Ter)
 ClinVar dbSNP
7g.117592158A>CCA368979149CFTRc.1991A>C (p.Glu664Ala)
c.*1705A>C (n.*1705A>C)
c.1808A>C (p.Glu603Ala)
c.*291A>C (n.*291A>C)
c.*1815A>C (n.*1815A>C)
c.1565A>C (p.Glu522Ala)
c.1402-10668A>C (n.1402-10668A>C)
c.1901A>C (p.Glu634Ala)
c.2081A>C (p.Glu694Ala)
c.1748A>C (p.Glu583Ala)
7g.117592158A>GCA368979150CFTRc.1991A>G (p.Glu664Gly)
c.*1705A>G (n.*1705A>G)
c.1808A>G (p.Glu603Gly)
c.*291A>G (n.*291A>G)
c.*1815A>G (n.*1815A>G)
c.1565A>G (p.Glu522Gly)
c.1402-10668A>G (n.1402-10668A>G)
c.1901A>G (p.Glu634Gly)
c.2081A>G (p.Glu694Gly)
c.1748A>G (p.Glu583Gly)
7g.117592158A>TCA368979151CFTRc.1991A>T (p.Glu664Val)
c.*1705A>T (n.*1705A>T)
c.1808A>T (p.Glu603Val)
c.*291A>T (n.*291A>T)
c.*1815A>T (n.*1815A>T)
c.1565A>T (p.Glu522Val)
c.1402-10668A>T (n.1402-10668A>T)
c.1901A>T (p.Glu634Val)
c.2081A>T (p.Glu694Val)
c.1748A>T (p.Glu583Val)
7g.117592159G>ACA457448941CFTRc.1992G>A (p.Glu664=)
c.*1706G>A (n.*1706G>A)
c.1809G>A (p.Glu603=)
c.*292G>A (n.*292G>A)
c.*1816G>A (n.*1816G>A)
c.1566G>A (p.Glu522=)
c.1402-10667G>A (n.1402-10667G>A)
c.1902G>A (p.Glu634=)
c.2082G>A (p.Glu694=)
c.1749G>A (p.Glu583=)
7g.117592159G>CCA368979153CFTRc.1992G>C (p.Glu664Asp)
c.*1706G>C (n.*1706G>C)
c.1809G>C (p.Glu603Asp)
c.*292G>C (n.*292G>C)
c.*1816G>C (n.*1816G>C)
c.1566G>C (p.Glu522Asp)
c.1402-10667G>C (n.1402-10667G>C)
c.1902G>C (p.Glu634Asp)
c.2082G>C (p.Glu694Asp)
c.1749G>C (p.Glu583Asp)
7g.117592159G=CA1737394408CFTRc.1992G= (p.Glu664=)
c.*1706G= (n.*1706G=)
c.1809G= (p.Glu603=)
c.*292G= (n.*292G=)
c.*1816G= (n.*1816G=)
c.1566G= (p.Glu522=)
c.1402-10667G= (n.1402-10667G=)
c.1902G= (p.Glu634=)
c.2082G= (p.Glu694=)
c.1749G= (p.Glu583=)
7g.117592159G>TCA368979152CFTRc.1992G>T (p.Glu664Asp)
c.*1706G>T (n.*1706G>T)
c.1809G>T (p.Glu603Asp)
c.*292G>T (n.*292G>T)
c.*1816G>T (n.*1816G>T)
c.1566G>T (p.Glu522Asp)
c.1402-10667G>T (n.1402-10667G>T)
c.1902G>T (p.Glu634Asp)
c.2082G>T (p.Glu694Asp)
c.1749G>T (p.Glu583Asp)
 ClinVar dbSNP gnomAD v4
7g.117592160A=CA1737394414CFTRc.1993A= (p.Thr665=)
c.*1707A= (n.*1707A=)
c.1810A= (p.Thr604=)
c.*293A= (n.*293A=)
c.*1817A= (n.*1817A=)
c.1567A= (p.Thr523=)
c.1402-10666A= (n.1402-10666A=)
c.1903A= (p.Thr635=)
c.2083A= (p.Thr695=)
c.1750A= (p.Thr584=)
7g.117592160A>CCA368979154CFTRc.1993A>C (p.Thr665Pro)
c.*1707A>C (n.*1707A>C)
c.1810A>C (p.Thr604Pro)
c.*293A>C (n.*293A>C)
c.*1817A>C (n.*1817A>C)
c.1567A>C (p.Thr523Pro)
c.1402-10666A>C (n.1402-10666A>C)
c.1903A>C (p.Thr635Pro)
c.2083A>C (p.Thr695Pro)
c.1750A>C (p.Thr584Pro)
7g.117592160A>GCA368979155CFTRc.1993A>G (p.Thr665Ala)
c.*1707A>G (n.*1707A>G)
c.1810A>G (p.Thr604Ala)
c.*293A>G (n.*293A>G)
c.*1817A>G (n.*1817A>G)
c.1567A>G (p.Thr523Ala)
c.1402-10666A>G (n.1402-10666A>G)
c.1903A>G (p.Thr635Ala)
c.2083A>G (p.Thr695Ala)
c.1750A>G (p.Thr584Ala)
7g.117592160A>TCA368979156CFTRc.1993A>T (p.Thr665Ser)
c.*1707A>T (n.*1707A>T)
c.1810A>T (p.Thr604Ser)
c.*293A>T (n.*293A>T)
c.*1817A>T (n.*1817A>T)
c.1567A>T (p.Thr523Ser)
c.1402-10666A>T (n.1402-10666A>T)
c.1903A>T (p.Thr635Ser)
c.2083A>T (p.Thr695Ser)
c.1750A>T (p.Thr584Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.117592161C>ACA368979157CFTRc.1994C>A (p.Thr665Asn)
c.*1708C>A (n.*1708C>A)
c.1811C>A (p.Thr604Asn)
c.*294C>A (n.*294C>A)
c.*1818C>A (n.*1818C>A)
c.1568C>A (p.Thr523Asn)
c.1402-10665C>A (n.1402-10665C>A)
c.1904C>A (p.Thr635Asn)
c.2084C>A (p.Thr695Asn)
c.1751C>A (p.Thr584Asn)
 dbSNP gnomAD v4
7g.117592161C=CA1737394418CFTRc.1994C= (p.Thr665=)
c.*1708C= (n.*1708C=)
c.1811C= (p.Thr604=)
c.*294C= (n.*294C=)
c.*1818C= (n.*1818C=)
c.1568C= (p.Thr523=)
c.1402-10665C= (n.1402-10665C=)
c.1904C= (p.Thr635=)
c.2084C= (p.Thr695=)
c.1751C= (p.Thr584=)
7g.117592161C>GCA368979158CFTRc.1994C>G (p.Thr665Ser)
c.*1708C>G (n.*1708C>G)
c.1811C>G (p.Thr604Ser)
c.*294C>G (n.*294C>G)
c.*1818C>G (n.*1818C>G)
c.1568C>G (p.Thr523Ser)
c.1402-10665C>G (n.1402-10665C>G)
c.1904C>G (p.Thr635Ser)
c.2084C>G (p.Thr695Ser)
c.1751C>G (p.Thr584Ser)
7g.117592161C>TCA368979159CFTRc.1994C>T (p.Thr665Ile)
c.*1708C>T (n.*1708C>T)
c.1811C>T (p.Thr604Ile)
c.*294C>T (n.*294C>T)
c.*1818C>T (n.*1818C>T)
c.1568C>T (p.Thr523Ile)
c.1402-10665C>T (n.1402-10665C>T)
c.1904C>T (p.Thr635Ile)
c.2084C>T (p.Thr695Ile)
c.1751C>T (p.Thr584Ile)
7g.117592162C>ACA457448946CFTRc.1995C>A (p.Thr665=)
c.*1709C>A (n.*1709C>A)
c.1812C>A (p.Thr604=)
c.*295C>A (n.*295C>A)
c.*1819C>A (n.*1819C>A)
c.1569C>A (p.Thr523=)
c.1402-10664C>A (n.1402-10664C>A)
c.1905C>A (p.Thr635=)
c.2085C>A (p.Thr695=)
c.1752C>A (p.Thr584=)
 ClinVar
7g.117592162C=CA1737394420CFTRc.1995C= (p.Thr665=)
c.*1709C= (n.*1709C=)
c.1812C= (p.Thr604=)
c.*295C= (n.*295C=)
c.*1819C= (n.*1819C=)
c.1569C= (p.Thr523=)
c.1402-10664C= (n.1402-10664C=)
c.1905C= (p.Thr635=)
c.2085C= (p.Thr695=)
c.1752C= (p.Thr584=)
7g.117592162C>GCA457448947CFTRc.1995C>G (p.Thr665=)
c.*1709C>G (n.*1709C>G)
c.1812C>G (p.Thr604=)
c.*295C>G (n.*295C>G)
c.*1819C>G (n.*1819C>G)
c.1569C>G (p.Thr523=)
c.1402-10664C>G (n.1402-10664C>G)
c.1905C>G (p.Thr635=)
c.2085C>G (p.Thr695=)
c.1752C>G (p.Thr584=)
 dbSNP
7g.117592162C>TCA457448948CFTRc.1995C>T (p.Thr665=)
c.*1709C>T (n.*1709C>T)
c.1812C>T (p.Thr604=)
c.*295C>T (n.*295C>T)
c.*1819C>T (n.*1819C>T)
c.1569C>T (p.Thr523=)
c.1402-10664C>T (n.1402-10664C>T)
c.1905C>T (p.Thr635=)
c.2085C>T (p.Thr695=)
c.1752C>T (p.Thr584=)
7g.117592163T>ACA368979160CFTRc.1996T>A (p.Leu666Ile)
c.*1710T>A (n.*1710T>A)
c.1813T>A (p.Leu605Ile)
c.*296T>A (n.*296T>A)
c.*1820T>A (n.*1820T>A)
c.1570T>A (p.Leu524Ile)
c.1402-10663T>A (n.1402-10663T>A)
c.1906T>A (p.Leu636Ile)
c.2086T>A (p.Leu696Ile)
c.1753T>A (p.Leu585Ile)
7g.117592163T>CCA457448949CFTRc.1996T>C (p.Leu666=)
c.*1710T>C (n.*1710T>C)
c.1813T>C (p.Leu605=)
c.*296T>C (n.*296T>C)
c.*1820T>C (n.*1820T>C)
c.1570T>C (p.Leu524=)
c.1402-10663T>C (n.1402-10663T>C)
c.1906T>C (p.Leu636=)
c.2086T>C (p.Leu696=)
c.1753T>C (p.Leu585=)
7g.117592163T>GCA368979161CFTRc.1996T>G (p.Leu666Val)
c.*1710T>G (n.*1710T>G)
c.1813T>G (p.Leu605Val)
c.*296T>G (n.*296T>G)
c.*1820T>G (n.*1820T>G)
c.1570T>G (p.Leu524Val)
c.1402-10663T>G (n.1402-10663T>G)
c.1906T>G (p.Leu636Val)
c.2086T>G (p.Leu696Val)
c.1753T>G (p.Leu585Val)
7g.117592164T>ACA368979162CFTRc.1997T>A (p.Leu666Ter)
c.*1711T>A (n.*1711T>A)
c.1814T>A (p.Leu605Ter)
c.*297T>A (n.*297T>A)
c.*1821T>A (n.*1821T>A)
c.1571T>A (p.Leu524Ter)
c.1402-10662T>A (n.1402-10662T>A)
c.1907T>A (p.Leu636Ter)
c.2087T>A (p.Leu696Ter)
c.1754T>A (p.Leu585Ter)
 ClinVar dbSNP
7g.117592164T>CCA368979163CFTRc.1997T>C (p.Leu666Ser)
c.*1711T>C (n.*1711T>C)
c.1814T>C (p.Leu605Ser)
c.*297T>C (n.*297T>C)
c.*1821T>C (n.*1821T>C)
c.1571T>C (p.Leu524Ser)
c.1402-10662T>C (n.1402-10662T>C)
c.1907T>C (p.Leu636Ser)
c.2087T>C (p.Leu696Ser)
c.1754T>C (p.Leu585Ser)
7g.117592164T>GCA368979164CFTRc.1997T>G (p.Leu666Ter)
c.*1711T>G (n.*1711T>G)
c.1814T>G (p.Leu605Ter)
c.*297T>G (n.*297T>G)
c.*1821T>G (n.*1821T>G)
c.1571T>G (p.Leu524Ter)
c.1402-10662T>G (n.1402-10662T>G)
c.1907T>G (p.Leu636Ter)
c.2087T>G (p.Leu696Ter)
c.1754T>G (p.Leu585Ter)
 COSMIC
7g.117592164T=CA1737394424CFTRc.1997T= (p.Leu666=)
c.*1711T= (n.*1711T=)
c.1814T= (p.Leu605=)
c.*297T= (n.*297T=)
c.*1821T= (n.*1821T=)
c.1571T= (p.Leu524=)
c.1402-10662T= (n.1402-10662T=)
c.1907T= (p.Leu636=)
c.2087T= (p.Leu696=)
c.1754T= (p.Leu585=)
7g.117592165A>CCA368979165CFTRc.1998A>C (p.Leu666Phe)
c.*1712A>C (n.*1712A>C)
c.1815A>C (p.Leu605Phe)
c.*298A>C (n.*298A>C)
c.*1822A>C (n.*1822A>C)
c.1572A>C (p.Leu524Phe)
c.1402-10661A>C (n.1402-10661A>C)
c.1908A>C (p.Leu636Phe)
c.2088A>C (p.Leu696Phe)
c.1755A>C (p.Leu585Phe)
7g.117592165A>GCA457448951CFTRc.1998A>G (p.Leu666=)
c.*1712A>G (n.*1712A>G)
c.1815A>G (p.Leu605=)
c.*298A>G (n.*298A>G)
c.*1822A>G (n.*1822A>G)
c.1572A>G (p.Leu524=)
c.1402-10661A>G (n.1402-10661A>G)
c.1908A>G (p.Leu636=)
c.2088A>G (p.Leu696=)
c.1755A>G (p.Leu585=)
7g.117592165A>TCA368979166CFTRc.1998A>T (p.Leu666Phe)
c.*1712A>T (n.*1712A>T)
c.1815A>T (p.Leu605Phe)
c.*298A>T (n.*298A>T)
c.*1822A>T (n.*1822A>T)
c.1572A>T (p.Leu524Phe)
c.1402-10661A>T (n.1402-10661A>T)
c.1908A>T (p.Leu636Phe)
c.2088A>T (p.Leu696Phe)
c.1755A>T (p.Leu585Phe)
7g.117592166C>ACA368979169CFTRc.1999C>A (p.His667Asn)
c.*1713C>A (n.*1713C>A)
c.1816C>A (p.His606Asn)
c.*299C>A (n.*299C>A)
c.*1823C>A (n.*1823C>A)
c.1573C>A (p.His525Asn)
c.1402-10660C>A (n.1402-10660C>A)
c.1909C>A (p.His637Asn)
c.2089C>A (p.His697Asn)
c.1756C>A (p.His586Asn)
7g.117592166C=CA1737394427CFTRc.1999C= (p.His667=)
c.*1713C= (n.*1713C=)
c.1816C= (p.His606=)
c.*299C= (n.*299C=)
c.*1823C= (n.*1823C=)
c.1573C= (p.His525=)
c.1402-10660C= (n.1402-10660C=)
c.1909C= (p.His637=)
c.2089C= (p.His697=)
c.1756C= (p.His586=)
7g.117592166C>GCA368979168CFTRc.1999C>G (p.His667Asp)
c.*1713C>G (n.*1713C>G)
c.1816C>G (p.His606Asp)
c.*299C>G (n.*299C>G)
c.*1823C>G (n.*1823C>G)
c.1573C>G (p.His525Asp)
c.1402-10660C>G (n.1402-10660C>G)
c.1909C>G (p.His637Asp)
c.2089C>G (p.His697Asp)
c.1756C>G (p.His586Asp)
7g.117592166C>TCA368979167CFTRc.1999C>T (p.His667Tyr)
c.*1713C>T (n.*1713C>T)
c.1816C>T (p.His606Tyr)
c.*299C>T (n.*299C>T)
c.*1823C>T (n.*1823C>T)
c.1573C>T (p.His525Tyr)
c.1402-10660C>T (n.1402-10660C>T)
c.1909C>T (p.His637Tyr)
c.2089C>T (p.His697Tyr)
c.1756C>T (p.His586Tyr)
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.117592167A=CA1737394432CFTRc.2000A= (p.His667=)
c.*1714A= (n.*1714A=)
c.1817A= (p.His606=)
c.*300A= (n.*300A=)
c.*1824A= (n.*1824A=)
c.1574A= (p.His525=)
c.1402-10659A= (n.1402-10659A=)
c.1910A= (p.His637=)
c.2090A= (p.His697=)
c.1757A= (p.His586=)
7g.117592167A>CCA368979170CFTRc.2000A>C (p.His667Pro)
c.*1714A>C (n.*1714A>C)
c.1817A>C (p.His606Pro)
c.*300A>C (n.*300A>C)
c.*1824A>C (n.*1824A>C)
c.1574A>C (p.His525Pro)
c.1402-10659A>C (n.1402-10659A>C)
c.1910A>C (p.His637Pro)
c.2090A>C (p.His697Pro)
c.1757A>C (p.His586Pro)
7g.117592167A>GCA368979171CFTRc.2000A>G (p.His667Arg)
c.*1714A>G (n.*1714A>G)
c.1817A>G (p.His606Arg)
c.*300A>G (n.*300A>G)
c.*1824A>G (n.*1824A>G)
c.1574A>G (p.His525Arg)
c.1402-10659A>G (n.1402-10659A>G)
c.1910A>G (p.His637Arg)
c.2090A>G (p.His697Arg)
c.1757A>G (p.His586Arg)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
7g.117592167A>TCA368979172CFTRc.2000A>T (p.His667Leu)
c.*1714A>T (n.*1714A>T)
c.1817A>T (p.His606Leu)
c.*300A>T (n.*300A>T)
c.*1824A>T (n.*1824A>T)
c.1574A>T (p.His525Leu)
c.1402-10659A>T (n.1402-10659A>T)
c.1910A>T (p.His637Leu)
c.2090A>T (p.His697Leu)
c.1757A>T (p.His586Leu)
7g.117592168C>ACA368979173CFTRc.2001C>A (p.His667Gln)
c.*1715C>A (n.*1715C>A)
c.1818C>A (p.His606Gln)
c.*301C>A (n.*301C>A)
c.*1825C>A (n.*1825C>A)
c.1575C>A (p.His525Gln)
c.1402-10658C>A (n.1402-10658C>A)
c.1911C>A (p.His637Gln)
c.2091C>A (p.His697Gln)
c.1758C>A (p.His586Gln)
7g.117592168C=CA1737394435CFTRc.2001C= (p.His667=)
c.*1715C= (n.*1715C=)
c.1818C= (p.His606=)
c.*301C= (n.*301C=)
c.*1825C= (n.*1825C=)
c.1575C= (p.His525=)
c.1402-10658C= (n.1402-10658C=)
c.1911C= (p.His637=)
c.2091C= (p.His697=)
c.1758C= (p.His586=)
7g.117592168C>GCA368979174CFTRc.2001C>G (p.His667Gln)
c.*1715C>G (n.*1715C>G)
c.1818C>G (p.His606Gln)
c.*301C>G (n.*301C>G)
c.*1825C>G (n.*1825C>G)
c.1575C>G (p.His525Gln)
c.1402-10658C>G (n.1402-10658C>G)
c.1911C>G (p.His637Gln)
c.2091C>G (p.His697Gln)
c.1758C>G (p.His586Gln)
7g.117592168C>TCA4451124CFTRc.2001C>T (p.His667=)
c.*1715C>T (n.*1715C>T)
c.1818C>T (p.His606=)
c.*301C>T (n.*301C>T)
c.*1825C>T (n.*1825C>T)
c.1575C>T (p.His525=)
c.1402-10658C>T (n.1402-10658C>T)
c.1911C>T (p.His637=)
c.2091C>T (p.His697=)
c.1758C>T (p.His586=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.117592169C>ACA368979176CFTRc.2002C>A (p.Arg668Ser)
c.*1716C>A (n.*1716C>A)
c.1819C>A (p.Arg607Ser)
c.*302C>A (n.*302C>A)
c.*1826C>A (n.*1826C>A)
c.1576C>A (p.Arg526Ser)
c.1402-10657C>A (n.1402-10657C>A)
c.1912C>A (p.Arg638Ser)
c.2092C>A (p.Arg698Ser)
c.1759C>A (p.Arg587Ser)
 dbSNP
7g.117592169C=CA1737394439CFTRc.2002C= (p.Arg668=)
c.*1716C= (n.*1716C=)
c.1819C= (p.Arg607=)
c.*302C= (n.*302C=)
c.*1826C= (n.*1826C=)
c.1576C= (p.Arg526=)
c.1402-10657C= (n.1402-10657C=)
c.1912C= (p.Arg638=)
c.2092C= (p.Arg698=)
c.1759C= (p.Arg587=)
7g.117592169C>GCA368979175CFTRc.2002C>G (p.Arg668Gly)
c.*1716C>G (n.*1716C>G)
c.1819C>G (p.Arg607Gly)
c.*302C>G (n.*302C>G)
c.*1826C>G (n.*1826C>G)
c.1576C>G (p.Arg526Gly)
c.1402-10657C>G (n.1402-10657C>G)
c.1912C>G (p.Arg638Gly)
c.2092C>G (p.Arg698Gly)
c.1759C>G (p.Arg587Gly)
7g.117592169C>TCA182840CFTRc.2002C>T (p.Arg668Cys)
c.*1716C>T (n.*1716C>T)
c.1819C>T (p.Arg607Cys)
c.*302C>T (n.*302C>T)
c.*1826C>T (n.*1826C>T)
c.1576C>T (p.Arg526Cys)
c.1402-10657C>T (n.1402-10657C>T)
c.1912C>T (p.Arg638Cys)
c.2092C>T (p.Arg698Cys)
c.1759C>T (p.Arg587Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117592170G>ACA4451125CFTRc.2003G>A (p.Arg668His)
c.*1717G>A (n.*1717G>A)
c.1820G>A (p.Arg607His)
c.*303G>A (n.*303G>A)
c.*1827G>A (n.*1827G>A)
c.1577G>A (p.Arg526His)
c.1402-10656G>A (n.1402-10656G>A)
c.1913G>A (p.Arg638His)
c.2093G>A (p.Arg698His)
c.1760G>A (p.Arg587His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117592170G>CCA368979177CFTRc.2003G>C (p.Arg668Pro)
c.*1717G>C (n.*1717G>C)
c.1820G>C (p.Arg607Pro)
c.*303G>C (n.*303G>C)
c.*1827G>C (n.*1827G>C)
c.1577G>C (p.Arg526Pro)
c.1402-10656G>C (n.1402-10656G>C)
c.1913G>C (p.Arg638Pro)
c.2093G>C (p.Arg698Pro)
c.1760G>C (p.Arg587Pro)
7g.117592170G=CA1737394444CFTRc.2003G= (p.Arg668=)
c.*1717G= (n.*1717G=)
c.1820G= (p.Arg607=)
c.*303G= (n.*303G=)
c.*1827G= (n.*1827G=)
c.1577G= (p.Arg526=)
c.1402-10656G= (n.1402-10656G=)
c.1913G= (p.Arg638=)
c.2093G= (p.Arg698=)
c.1760G= (p.Arg587=)
7g.117592170G>TCA164947672CFTRc.2003G>T (p.Arg668Leu)
c.*1717G>T (n.*1717G>T)
c.1820G>T (p.Arg607Leu)
c.*303G>T (n.*303G>T)
c.*1827G>T (n.*1827G>T)
c.1577G>T (p.Arg526Leu)
c.1402-10656G>T (n.1402-10656G>T)
c.1913G>T (p.Arg638Leu)
c.2093G>T (p.Arg698Leu)
c.1760G>T (p.Arg587Leu)
 dbSNP gnomAD v4
7g.117592171T>ACA457448954CFTRc.2004T>A (p.Arg668=)
c.*1718T>A (n.*1718T>A)
c.1821T>A (p.Arg607=)
c.*304T>A (n.*304T>A)
c.*1828T>A (n.*1828T>A)
c.1578T>A (p.Arg526=)
c.1402-10655T>A (n.1402-10655T>A)
c.1914T>A (p.Arg638=)
c.2094T>A (p.Arg698=)
c.1761T>A (p.Arg587=)
7g.117592171T>CCA457448955CFTRc.2004T>C (p.Arg668=)
c.*1718T>C (n.*1718T>C)
c.1821T>C (p.Arg607=)
c.*304T>C (n.*304T>C)
c.*1828T>C (n.*1828T>C)
c.1578T>C (p.Arg526=)
c.1402-10655T>C (n.1402-10655T>C)
c.1914T>C (p.Arg638=)
c.2094T>C (p.Arg698=)
c.1761T>C (p.Arg587=)
 dbSNP
7g.117592171T>GCA457448956CFTRc.2004T>G (p.Arg668=)
c.*1718T>G (n.*1718T>G)
c.1821T>G (p.Arg607=)
c.*304T>G (n.*304T>G)
c.*1828T>G (n.*1828T>G)
c.1578T>G (p.Arg526=)
c.1402-10655T>G (n.1402-10655T>G)
c.1914T>G (p.Arg638=)
c.2094T>G (p.Arg698=)
c.1761T>G (p.Arg587=)
7g.117592171T=CA1737394450CFTRc.2004T= (p.Arg668=)
c.*1718T= (n.*1718T=)
c.1821T= (p.Arg607=)
c.*304T= (n.*304T=)
c.*1828T= (n.*1828T=)
c.1578T= (p.Arg526=)
c.1402-10655T= (n.1402-10655T=)
c.1914T= (p.Arg638=)
c.2094T= (p.Arg698=)
c.1761T= (p.Arg587=)
7g.117592172T>ACA368979178CFTRc.2005T>A (p.Phe669Ile)
c.*1719T>A (n.*1719T>A)
c.1822T>A (p.Phe608Ile)
c.*305T>A (n.*305T>A)
c.*1829T>A (n.*1829T>A)
c.1579T>A (p.Phe527Ile)
c.1402-10654T>A (n.1402-10654T>A)
c.1915T>A (p.Phe639Ile)
c.2095T>A (p.Phe699Ile)
c.1762T>A (p.Phe588Ile)
7g.117592172T>CCA368979179CFTRc.2005T>C (p.Phe669Leu)
c.*1719T>C (n.*1719T>C)
c.1822T>C (p.Phe608Leu)
c.*305T>C (n.*305T>C)
c.*1829T>C (n.*1829T>C)
c.1579T>C (p.Phe527Leu)
c.1402-10654T>C (n.1402-10654T>C)
c.1915T>C (p.Phe639Leu)
c.2095T>C (p.Phe699Leu)
c.1762T>C (p.Phe588Leu)
 ClinVar dbSNP gnomAD v4
7g.117592172T>GCA368979180CFTRc.2005T>G (p.Phe669Val)
c.*1719T>G (n.*1719T>G)
c.1822T>G (p.Phe608Val)
c.*305T>G (n.*305T>G)
c.*1829T>G (n.*1829T>G)
c.1579T>G (p.Phe527Val)
c.1402-10654T>G (n.1402-10654T>G)
c.1915T>G (p.Phe639Val)
c.2095T>G (p.Phe699Val)
c.1762T>G (p.Phe588Val)
7g.117592173T>ACA368979181CFTRc.2006T>A (p.Phe669Tyr)
c.*1720T>A (n.*1720T>A)
c.1823T>A (p.Phe608Tyr)
c.*306T>A (n.*306T>A)
c.*1830T>A (n.*1830T>A)
c.1580T>A (p.Phe527Tyr)
c.1402-10653T>A (n.1402-10653T>A)
c.1916T>A (p.Phe639Tyr)
c.2096T>A (p.Phe699Tyr)
c.1763T>A (p.Phe588Tyr)
7g.117592173T>CCA368979183CFTRc.2006T>C (p.Phe669Ser)
c.*1720T>C (n.*1720T>C)
c.1823T>C (p.Phe608Ser)
c.*306T>C (n.*306T>C)
c.*1830T>C (n.*1830T>C)
c.1580T>C (p.Phe527Ser)
c.1402-10653T>C (n.1402-10653T>C)
c.1916T>C (p.Phe639Ser)
c.2096T>C (p.Phe699Ser)
c.1763T>C (p.Phe588Ser)
7g.117592173T>GCA368979182CFTRc.2006T>G (p.Phe669Cys)
c.*1720T>G (n.*1720T>G)
c.1823T>G (p.Phe608Cys)
c.*306T>G (n.*306T>G)
c.*1830T>G (n.*1830T>G)
c.1580T>G (p.Phe527Cys)
c.1402-10653T>G (n.1402-10653T>G)
c.1916T>G (p.Phe639Cys)
c.2096T>G (p.Phe699Cys)
c.1763T>G (p.Phe588Cys)
7g.117592174C>ACA368979190CFTRc.2007C>A (p.Phe669Leu)
c.*1721C>A (n.*1721C>A)
c.1824C>A (p.Phe608Leu)
c.*307C>A (n.*307C>A)
c.*1831C>A (n.*1831C>A)
c.1581C>A (p.Phe527Leu)
c.1402-10652C>A (n.1402-10652C>A)
c.1917C>A (p.Phe639Leu)
c.2097C>A (p.Phe699Leu)
c.1764C>A (p.Phe588Leu)
7g.117592174C=CA1737394454CFTRc.2007C= (p.Phe669=)
c.*1721C= (n.*1721C=)
c.1824C= (p.Phe608=)
c.*307C= (n.*307C=)
c.*1831C= (n.*1831C=)
c.1581C= (p.Phe527=)
c.1402-10652C= (n.1402-10652C=)
c.1917C= (p.Phe639=)
c.2097C= (p.Phe699=)
c.1764C= (p.Phe588=)
7g.117592174C>GCA368979192CFTRc.2007C>G (p.Phe669Leu)
c.*1721C>G (n.*1721C>G)
c.1824C>G (p.Phe608Leu)
c.*307C>G (n.*307C>G)
c.*1831C>G (n.*1831C>G)
c.1581C>G (p.Phe527Leu)
c.1402-10652C>G (n.1402-10652C>G)
c.1917C>G (p.Phe639Leu)
c.2097C>G (p.Phe699Leu)
c.1764C>G (p.Phe588Leu)
7g.117592174C>TCA164947676CFTRc.2007C>T (p.Phe669=)
c.*1721C>T (n.*1721C>T)
c.1824C>T (p.Phe608=)
c.*307C>T (n.*307C>T)
c.*1831C>T (n.*1831C>T)
c.1581C>T (p.Phe527=)
c.1402-10652C>T (n.1402-10652C>T)
c.1917C>T (p.Phe639=)
c.2097C>T (p.Phe699=)
c.1764C>T (p.Phe588=)
 ClinVar dbSNP gnomAD v4
7g.117592175T>ACA368979194CFTRc.2008T>A (p.Ser670Thr)
c.*1722T>A (n.*1722T>A)
c.1825T>A (p.Ser609Thr)
c.*308T>A (n.*308T>A)
c.*1832T>A (n.*1832T>A)
c.1582T>A (p.Ser528Thr)
c.1402-10651T>A (n.1402-10651T>A)
c.1918T>A (p.Ser640Thr)
c.2098T>A (p.Ser700Thr)
c.1765T>A (p.Ser589Thr)
7g.117592175T>CCA368979196CFTRc.2008T>C (p.Ser670Pro)
c.*1722T>C (n.*1722T>C)
c.1825T>C (p.Ser609Pro)
c.*308T>C (n.*308T>C)
c.*1832T>C (n.*1832T>C)
c.1582T>C (p.Ser528Pro)
c.1402-10651T>C (n.1402-10651T>C)
c.1918T>C (p.Ser640Pro)
c.2098T>C (p.Ser700Pro)
c.1765T>C (p.Ser589Pro)
7g.117592175T>GCA368979200CFTRc.2008T>G (p.Ser670Ala)
c.*1722T>G (n.*1722T>G)
c.1825T>G (p.Ser609Ala)
c.*308T>G (n.*308T>G)
c.*1832T>G (n.*1832T>G)
c.1582T>G (p.Ser528Ala)
c.1402-10651T>G (n.1402-10651T>G)
c.1918T>G (p.Ser640Ala)
c.2098T>G (p.Ser700Ala)
c.1765T>G (p.Ser589Ala)
 COSMIC
7g.117592176C>ACA368979203CFTRc.2009C>A (p.Ser670Ter)
c.*1723C>A (n.*1723C>A)
c.1826C>A (p.Ser609Ter)
c.*309C>A (n.*309C>A)
c.*1833C>A (n.*1833C>A)
c.1583C>A (p.Ser528Ter)
c.1402-10650C>A (n.1402-10650C>A)
c.1919C>A (p.Ser640Ter)
c.2099C>A (p.Ser700Ter)
c.1766C>A (p.Ser589Ter)
7g.117592176C=CA1737394457CFTRc.2009C= (p.Ser670=)
c.*1723C= (n.*1723C=)
c.1826C= (p.Ser609=)
c.*309C= (n.*309C=)
c.*1833C= (n.*1833C=)
c.1583C= (p.Ser528=)
c.1402-10650C= (n.1402-10650C=)
c.1919C= (p.Ser640=)
c.2099C= (p.Ser700=)
c.1766C= (p.Ser589=)
7g.117592176C>GCA368979205CFTRc.2009C>G (p.Ser670Ter)
c.*1723C>G (n.*1723C>G)
c.1826C>G (p.Ser609Ter)
c.*309C>G (n.*309C>G)
c.*1833C>G (n.*1833C>G)
c.1583C>G (p.Ser528Ter)
c.1402-10650C>G (n.1402-10650C>G)
c.1919C>G (p.Ser640Ter)
c.2099C>G (p.Ser700Ter)
c.1766C>G (p.Ser589Ter)
7g.117592176C>TCA368979208CFTRc.2009C>T (p.Ser670Leu)
c.*1723C>T (n.*1723C>T)
c.1826C>T (p.Ser609Leu)
c.*309C>T (n.*309C>T)
c.*1833C>T (n.*1833C>T)
c.1583C>T (p.Ser528Leu)
c.1402-10650C>T (n.1402-10650C>T)
c.1919C>T (p.Ser640Leu)
c.2099C>T (p.Ser700Leu)
c.1766C>T (p.Ser589Leu)
 ClinVar
7g.117592177A>CCA457448995CFTRc.2010A>C (p.Ser670=)
c.*1724A>C (n.*1724A>C)
c.1827A>C (p.Ser609=)
c.*310A>C (n.*310A>C)
c.*1834A>C (n.*1834A>C)
c.1584A>C (p.Ser528=)
c.1402-10649A>C (n.1402-10649A>C)
c.1920A>C (p.Ser640=)
c.2100A>C (p.Ser700=)
c.1767A>C (p.Ser589=)
 ClinVar
7g.117592177A>GCA457448994CFTRc.2010A>G (p.Ser670=)
c.*1724A>G (n.*1724A>G)
c.1827A>G (p.Ser609=)
c.*310A>G (n.*310A>G)
c.*1834A>G (n.*1834A>G)
c.1584A>G (p.Ser528=)
c.1402-10649A>G (n.1402-10649A>G)
c.1920A>G (p.Ser640=)
c.2100A>G (p.Ser700=)
c.1767A>G (p.Ser589=)
7g.117592177A>TCA457448993CFTRc.2010A>T (p.Ser670=)
c.*1724A>T (n.*1724A>T)
c.1827A>T (p.Ser609=)
c.*310A>T (n.*310A>T)
c.*1834A>T (n.*1834A>T)
c.1584A>T (p.Ser528=)
c.1402-10649A>T (n.1402-10649A>T)
c.1920A>T (p.Ser640=)
c.2100A>T (p.Ser700=)
c.1767A>T (p.Ser589=)
7g.117592177dupCA326727CFTRc.2010dup (p.Leu671IlefsTer18)
c.*1724dup (n.*1724dup)
c.1827dup (p.Leu610IlefsTer18)
c.*310dup (n.*310dup)
c.*1834dup (n.*1834dup)
c.1584dup (p.Leu529IlefsTer18)
c.1402-10649dup (n.1402-10649dup)
c.1920dup (p.Leu641IlefsTer18)
c.2100dup (p.Leu701IlefsTer18)
c.1767dup (p.Leu590IlefsTer18)
 dbSNP
7g.117592177_117592178delinsATCA1737394460CFTRc.2010_2011delinsAT (p.Ser670=)
c.*1724_*1725delinsAT (n.*1724_*1725delinsAT)
c.1827_1828delinsAT (p.Ser609=)
c.*310_*311delinsAT (n.*310_*311delinsAT)
c.*1834_*1835delinsAT (n.*1834_*1835delinsAT)
c.1584_1585delinsAT (p.Ser528=)
c.1402-10649_1402-10648delinsAT (n.1402-10649_1402-10648delinsAT)
c.1920_1921delinsAT (p.Ser640=)
c.2100_2101delinsAT (p.Ser700=)
c.1767_1768delinsAT (p.Ser589=)
7g.117592178T>ACA368979209CFTRc.2011T>A (p.Leu671Ile)
c.*1725T>A (n.*1725T>A)
c.1828T>A (p.Leu610Ile)
c.*311T>A (n.*311T>A)
c.*1835T>A (n.*1835T>A)
c.1585T>A (p.Leu529Ile)
c.1402-10648T>A (n.1402-10648T>A)
c.1921T>A (p.Leu641Ile)
c.2101T>A (p.Leu701Ile)
c.1768T>A (p.Leu590Ile)
7g.117592178T>CCA457448996CFTRc.2011T>C (p.Leu671=)
c.*1725T>C (n.*1725T>C)
c.1828T>C (p.Leu610=)
c.*311T>C (n.*311T>C)
c.*1835T>C (n.*1835T>C)
c.1585T>C (p.Leu529=)
c.1402-10648T>C (n.1402-10648T>C)
c.1921T>C (p.Leu641=)
c.2101T>C (p.Leu701=)
c.1768T>C (p.Leu590=)
7g.117592178T>GCA368979211CFTRc.2011T>G (p.Leu671Val)
c.*1725T>G (n.*1725T>G)
c.1828T>G (p.Leu610Val)
c.*311T>G (n.*311T>G)
c.*1835T>G (n.*1835T>G)
c.1585T>G (p.Leu529Val)
c.1402-10648T>G (n.1402-10648T>G)
c.1921T>G (p.Leu641Val)
c.2101T>G (p.Leu701Val)
c.1768T>G (p.Leu590Val)
7g.117592179delCA342837CFTRc.2012del (p.Leu671Ter)
c.*1726del (n.*1726del)
c.1829del (p.Leu610Ter)
c.*312del (n.*312del)
c.*1836del (n.*1836del)
c.1586del (p.Leu529Ter)
c.1402-10647del (n.1402-10647del)
c.1922del (p.Leu641Ter)
c.2102del (p.Leu701Ter)
c.1769del (p.Leu590Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117592179T>ACA368979220CFTRc.2012T>A (p.Leu671Ter)
c.*1726T>A (n.*1726T>A)
c.1829T>A (p.Leu610Ter)
c.*312T>A (n.*312T>A)
c.*1836T>A (n.*1836T>A)
c.1586T>A (p.Leu529Ter)
c.1402-10647T>A (n.1402-10647T>A)
c.1922T>A (p.Leu641Ter)
c.2102T>A (p.Leu701Ter)
c.1769T>A (p.Leu590Ter)
 ClinVar dbSNP
7g.117592179T>CCA368979218CFTRc.2012T>C (p.Leu671Ser)
c.*1726T>C (n.*1726T>C)
c.1829T>C (p.Leu610Ser)
c.*312T>C (n.*312T>C)
c.*1836T>C (n.*1836T>C)
c.1586T>C (p.Leu529Ser)
c.1402-10647T>C (n.1402-10647T>C)
c.1922T>C (p.Leu641Ser)
c.2102T>C (p.Leu701Ser)
c.1769T>C (p.Leu590Ser)
 COSMIC
7g.117592179T>GCA368979222CFTRc.2012T>G (p.Leu671Ter)
c.*1726T>G (n.*1726T>G)
c.1829T>G (p.Leu610Ter)
c.*312T>G (n.*312T>G)
c.*1836T>G (n.*1836T>G)
c.1586T>G (p.Leu529Ter)
c.1402-10647T>G (n.1402-10647T>G)
c.1922T>G (p.Leu641Ter)
c.2102T>G (p.Leu701Ter)
c.1769T>G (p.Leu590Ter)
7g.117592179_117592182delinsTAGACA1737394470CFTRc.2012_2015delinsTAGA (p.Leu671=)
c.*1726_*1729delinsTAGA (n.*1726_*1729delinsTAGA)
c.1829_1832delinsTAGA (p.Leu610=)
c.*312_*315delinsTAGA (n.*312_*315delinsTAGA)
c.*1836_*1839delinsTAGA (n.*1836_*1839delinsTAGA)
c.1586_1589delinsTAGA (p.Leu529=)
c.1402-10647_1402-10644delinsTAGA (n.1402-10647_1402-10644delinsTAGA)
c.1922_1925delinsTAGA (p.Leu641=)
c.2102_2105delinsTAGA (p.Leu701=)
c.1769_1772delinsTAGA (p.Leu590=)
7g.117592180A>CCA368979228CFTRc.2013A>C (p.Leu671Phe)
c.*1727A>C (n.*1727A>C)
c.1830A>C (p.Leu610Phe)
c.*313A>C (n.*313A>C)
c.*1837A>C (n.*1837A>C)
c.1587A>C (p.Leu529Phe)
c.1402-10646A>C (n.1402-10646A>C)
c.1923A>C (p.Leu641Phe)
c.2103A>C (p.Leu701Phe)
c.1770A>C (p.Leu590Phe)
7g.117592180A>GCA457448997CFTRc.2013A>G (p.Leu671=)
c.*1727A>G (n.*1727A>G)
c.1830A>G (p.Leu610=)
c.*313A>G (n.*313A>G)
c.*1837A>G (n.*1837A>G)
c.1587A>G (p.Leu529=)
c.1402-10646A>G (n.1402-10646A>G)
c.1923A>G (p.Leu641=)
c.2103A>G (p.Leu701=)
c.1770A>G (p.Leu590=)
 gnomAD v4
7g.117592180A>TCA368979226CFTRc.2013A>T (p.Leu671Phe)
c.*1727A>T (n.*1727A>T)
c.1830A>T (p.Leu610Phe)
c.*313A>T (n.*313A>T)
c.*1837A>T (n.*1837A>T)
c.1587A>T (p.Leu529Phe)
c.1402-10646A>T (n.1402-10646A>T)
c.1923A>T (p.Leu641Phe)
c.2103A>T (p.Leu701Phe)
c.1770A>T (p.Leu590Phe)
7g.117592182_117592184delCA326728CFTRc.2015_2017del (p.Glu672del)
c.*1729_*1731del (n.*1729_*1731del)
c.1832_1834del (p.Glu611del)
c.*315_*317del (n.*315_*317del)
c.*1839_*1841del (n.*1839_*1841del)
c.1589_1591del (p.Glu530del)
c.1402-10644_1402-10642del (n.1402-10644_1402-10642del)
c.1925_1927del (p.Glu642del)
c.2105_2107del (p.Glu702del)
c.1772_1774del (p.Glu591del)
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.117592181G>ACA4451126CFTRc.2014G>A (p.Glu672Lys)
c.*1728G>A (n.*1728G>A)
c.1831G>A (p.Glu611Lys)
c.*314G>A (n.*314G>A)
c.*1838G>A (n.*1838G>A)
c.1588G>A (p.Glu530Lys)
c.1402-10645G>A (n.1402-10645G>A)
c.1924G>A (p.Glu642Lys)
c.2104G>A (p.Glu702Lys)
c.1771G>A (p.Glu591Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.117592181G>CCA368979232CFTRc.2014G>C (p.Glu672Gln)
c.*1728G>C (n.*1728G>C)
c.1831G>C (p.Glu611Gln)
c.*314G>C (n.*314G>C)
c.*1838G>C (n.*1838G>C)
c.1588G>C (p.Glu530Gln)
c.1402-10645G>C (n.1402-10645G>C)
c.1924G>C (p.Glu642Gln)
c.2104G>C (p.Glu702Gln)
c.1771G>C (p.Glu591Gln)
7g.117592181G=CA1737394477CFTRc.2014G= (p.Glu672=)
c.*1728G= (n.*1728G=)
c.1831G= (p.Glu611=)
c.*314G= (n.*314G=)
c.*1838G= (n.*1838G=)
c.1588G= (p.Glu530=)
c.1402-10645G= (n.1402-10645G=)
c.1924G= (p.Glu642=)
c.2104G= (p.Glu702=)
c.1771G= (p.Glu591=)
7g.117592181G>TCA368979234CFTRc.2014G>T (p.Glu672Ter)
c.*1728G>T (n.*1728G>T)
c.1831G>T (p.Glu611Ter)
c.*314G>T (n.*314G>T)
c.*1838G>T (n.*1838G>T)
c.1588G>T (p.Glu530Ter)
c.1402-10645G>T (n.1402-10645G>T)
c.1924G>T (p.Glu642Ter)
c.2104G>T (p.Glu702Ter)
c.1771G>T (p.Glu591Ter)
7g.117592182A>CCA368979238CFTRc.2015A>C (p.Glu672Ala)
c.*1729A>C (n.*1729A>C)
c.1832A>C (p.Glu611Ala)
c.*315A>C (n.*315A>C)
c.*1839A>C (n.*1839A>C)
c.1589A>C (p.Glu530Ala)
c.1402-10644A>C (n.1402-10644A>C)
c.1925A>C (p.Glu642Ala)
c.2105A>C (p.Glu702Ala)
c.1772A>C (p.Glu591Ala)
 gnomAD v4
7g.117592182A>GCA368979240CFTRc.2015A>G (p.Glu672Gly)
c.*1729A>G (n.*1729A>G)
c.1832A>G (p.Glu611Gly)
c.*315A>G (n.*315A>G)
c.*1839A>G (n.*1839A>G)
c.1589A>G (p.Glu530Gly)
c.1402-10644A>G (n.1402-10644A>G)
c.1925A>G (p.Glu642Gly)
c.2105A>G (p.Glu702Gly)
c.1772A>G (p.Glu591Gly)
7g.117592182A>TCA368979242CFTRc.2015A>T (p.Glu672Val)
c.*1729A>T (n.*1729A>T)
c.1832A>T (p.Glu611Val)
c.*315A>T (n.*315A>T)
c.*1839A>T (n.*1839A>T)
c.1589A>T (p.Glu530Val)
c.1402-10644A>T (n.1402-10644A>T)
c.1925A>T (p.Glu642Val)
c.2105A>T (p.Glu702Val)
c.1772A>T (p.Glu591Val)
7g.117592183A=CA1737394479CFTRc.2016A= (p.Glu672=)
c.*1730A= (n.*1730A=)
c.1833A= (p.Glu611=)
c.*316A= (n.*316A=)
c.*1840A= (n.*1840A=)
c.1590A= (p.Glu530=)
c.1402-10643A= (n.1402-10643A=)
c.1926A= (p.Glu642=)
c.2106A= (p.Glu702=)
c.1773A= (p.Glu591=)
7g.117592183A>CCA368979243CFTRc.2016A>C (p.Glu672Asp)
c.*1730A>C (n.*1730A>C)
c.1833A>C (p.Glu611Asp)
c.*316A>C (n.*316A>C)
c.*1840A>C (n.*1840A>C)
c.1590A>C (p.Glu530Asp)
c.1402-10643A>C (n.1402-10643A>C)
c.1926A>C (p.Glu642Asp)
c.2106A>C (p.Glu702Asp)
c.1773A>C (p.Glu591Asp)
7g.117592183A>GCA457448998CFTRc.2016A>G (p.Glu672=)
c.*1730A>G (n.*1730A>G)
c.1833A>G (p.Glu611=)
c.*316A>G (n.*316A>G)
c.*1840A>G (n.*1840A>G)
c.1590A>G (p.Glu530=)
c.1402-10643A>G (n.1402-10643A>G)
c.1926A>G (p.Glu642=)
c.2106A>G (p.Glu702=)
c.1773A>G (p.Glu591=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
7g.117592183A>TCA368979249CFTRc.2016A>T (p.Glu672Asp)
c.*1730A>T (n.*1730A>T)
c.1833A>T (p.Glu611Asp)
c.*316A>T (n.*316A>T)
c.*1840A>T (n.*1840A>T)
c.1590A>T (p.Glu530Asp)
c.1402-10643A>T (n.1402-10643A>T)
c.1926A>T (p.Glu642Asp)
c.2106A>T (p.Glu702Asp)
c.1773A>T (p.Glu591Asp)
7g.117592184G>ACA368979251CFTRc.2017G>A (p.Gly673Arg)
c.*1731G>A (n.*1731G>A)
c.1834G>A (p.Gly612Arg)
c.*317G>A (n.*317G>A)
c.*1841G>A (n.*1841G>A)
c.1591G>A (p.Gly531Arg)
c.1402-10642G>A (n.1402-10642G>A)
c.1927G>A (p.Gly643Arg)
c.2107G>A (p.Gly703Arg)
c.1774G>A (p.Gly592Arg)
 ClinVar dbSNP gnomAD v3 gnomAD v4
7g.117592184G>CCA368979254CFTRc.2017G>C (p.Gly673Arg)
c.*1731G>C (n.*1731G>C)
c.1834G>C (p.Gly612Arg)
c.*317G>C (n.*317G>C)
c.*1841G>C (n.*1841G>C)
c.1591G>C (p.Gly531Arg)
c.1402-10642G>C (n.1402-10642G>C)
c.1927G>C (p.Gly643Arg)
c.2107G>C (p.Gly703Arg)
c.1774G>C (p.Gly592Arg)
7g.117592184G=CA1737394484CFTRc.2017G= (p.Gly673=)
c.*1731G= (n.*1731G=)
c.1834G= (p.Gly612=)
c.*317G= (n.*317G=)
c.*1841G= (n.*1841G=)
c.1591G= (p.Gly531=)
c.1402-10642G= (n.1402-10642G=)
c.1927G= (p.Gly643=)
c.2107G= (p.Gly703=)
c.1774G= (p.Gly592=)
7g.117592184G>TCA326730CFTRc.2017G>T (p.Gly673Ter)
c.*1731G>T (n.*1731G>T)
c.1834G>T (p.Gly612Ter)
c.*317G>T (n.*317G>T)
c.*1841G>T (n.*1841G>T)
c.1591G>T (p.Gly531Ter)
c.1402-10642G>T (n.1402-10642G>T)
c.1927G>T (p.Gly643Ter)
c.2107G>T (p.Gly703Ter)
c.1774G>T (p.Gly592Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.117592185G>ACA368979260CFTRc.2018G>A (p.Gly673Glu)
c.*1732G>A (n.*1732G>A)
c.1835G>A (p.Gly612Glu)
c.*318G>A (n.*318G>A)
c.*1842G>A (n.*1842G>A)
c.1592G>A (p.Gly531Glu)
c.1402-10641G>A (n.1402-10641G>A)
c.1928G>A (p.Gly643Glu)
c.2108G>A (p.Gly703Glu)
c.1775G>A (p.Gly592Glu)
7g.117592185G>CCA368979255CFTRc.2018G>C (p.Gly673Ala)
c.*1732G>C (n.*1732G>C)
c.1835G>C (p.Gly612Ala)
c.*318G>C (n.*318G>C)
c.*1842G>C (n.*1842G>C)
c.1592G>C (p.Gly531Ala)
c.1402-10641G>C (n.1402-10641G>C)
c.1928G>C (p.Gly643Ala)
c.2108G>C (p.Gly703Ala)
c.1775G>C (p.Gly592Ala)
7g.117592185G>TCA368979258CFTRc.2018G>T (p.Gly673Val)
c.*1732G>T (n.*1732G>T)
c.1835G>T (p.Gly612Val)
c.*318G>T (n.*318G>T)
c.*1842G>T (n.*1842G>T)
c.1592G>T (p.Gly531Val)
c.1402-10641G>T (n.1402-10641G>T)
c.1928G>T (p.Gly643Val)
c.2108G>T (p.Gly703Val)
c.1775G>T (p.Gly592Val)
7g.117592186A>CCA457449000CFTRc.2019A>C (p.Gly673=)
c.*1733A>C (n.*1733A>C)
c.1836A>C (p.Gly612=)
c.*319A>C (n.*319A>C)
c.*1843A>C (n.*1843A>C)
c.1593A>C (p.Gly531=)
c.1402-10640A>C (n.1402-10640A>C)
c.1929A>C (p.Gly643=)
c.2109A>C (p.Gly703=)
c.1776A>C (p.Gly592=)
7g.117592186A>GCA457449001CFTRc.2019A>G (p.Gly673=)
c.*1733A>G (n.*1733A>G)
c.1836A>G (p.Gly612=)
c.*319A>G (n.*319A>G)
c.*1843A>G (n.*1843A>G)
c.1593A>G (p.Gly531=)
c.1402-10640A>G (n.1402-10640A>G)
c.1929A>G (p.Gly643=)
c.2109A>G (p.Gly703=)
c.1776A>G (p.Gly592=)
 ClinVar dbSNP
7g.117592186A>TCA457448999CFTRc.2019A>T (p.Gly673=)
c.*1733A>T (n.*1733A>T)
c.1836A>T (p.Gly612=)
c.*319A>T (n.*319A>T)
c.*1843A>T (n.*1843A>T)
c.1593A>T (p.Gly531=)
c.1402-10640A>T (n.1402-10640A>T)
c.1929A>T (p.Gly643=)
c.2109A>T (p.Gly703=)
c.1776A>T (p.Gly592=)
7g.117592187G>ACA368979261CFTRc.2020G>A (p.Asp674Asn)
c.*1734G>A (n.*1734G>A)
c.1837G>A (p.Asp613Asn)
c.*320G>A (n.*320G>A)
c.*1844G>A (n.*1844G>A)
c.1594G>A (p.Asp532Asn)
c.1402-10639G>A (n.1402-10639G>A)
c.1930G>A (p.Asp644Asn)
c.2110G>A (p.Asp704Asn)
c.1777G>A (p.Asp593Asn)
7g.117592187G>CCA368979262CFTRc.2020G>C (p.Asp674His)
c.*1734G>C (n.*1734G>C)
c.1837G>C (p.Asp613His)
c.*320G>C (n.*320G>C)
c.*1844G>C (n.*1844G>C)
c.1594G>C (p.Asp532His)
c.1402-10639G>C (n.1402-10639G>C)
c.1930G>C (p.Asp644His)
c.2110G>C (p.Asp704His)
c.1777G>C (p.Asp593His)
7g.117592187G=CA1737394490CFTRc.2020G= (p.Asp674=)
c.*1734G= (n.*1734G=)
c.1837G= (p.Asp613=)
c.*320G= (n.*320G=)
c.*1844G= (n.*1844G=)
c.1594G= (p.Asp532=)
c.1402-10639G= (n.1402-10639G=)
c.1930G= (p.Asp644=)
c.2110G= (p.Asp704=)
c.1777G= (p.Asp593=)
7g.117592187G>TCA368979266CFTRc.2020G>T (p.Asp674Tyr)
c.*1734G>T (n.*1734G>T)
c.1837G>T (p.Asp613Tyr)
c.*320G>T (n.*320G>T)
c.*1844G>T (n.*1844G>T)
c.1594G>T (p.Asp532Tyr)
c.1402-10639G>T (n.1402-10639G>T)
c.1930G>T (p.Asp644Tyr)
c.2110G>T (p.Asp704Tyr)
c.1777G>T (p.Asp593Tyr)
 ClinVar dbSNP gnomAD v3 gnomAD v4
7g.117592188A=CA1737394494CFTRc.2021A= (p.Asp674=)
c.*1735A= (n.*1735A=)
c.1838A= (p.Asp613=)
c.*321A= (n.*321A=)
c.*1845A= (n.*1845A=)
c.1595A= (p.Asp532=)
c.1402-10638A= (n.1402-10638A=)
c.1931A= (p.Asp644=)
c.2111A= (p.Asp704=)
c.1778A= (p.Asp593=)
7g.117592188A>CCA368979268CFTRc.2021A>C (p.Asp674Ala)
c.*1735A>C (n.*1735A>C)
c.1838A>C (p.Asp613Ala)
c.*321A>C (n.*321A>C)
c.*1845A>C (n.*1845A>C)
c.1595A>C (p.Asp532Ala)
c.1402-10638A>C (n.1402-10638A>C)
c.1931A>C (p.Asp644Ala)
c.2111A>C (p.Asp704Ala)
c.1778A>C (p.Asp593Ala)
7g.117592188A>GCA4451127CFTRc.2021A>G (p.Asp674Gly)
c.*1735A>G (n.*1735A>G)
c.1838A>G (p.Asp613Gly)
c.*321A>G (n.*321A>G)
c.*1845A>G (n.*1845A>G)
c.1595A>G (p.Asp532Gly)
c.1402-10638A>G (n.1402-10638A>G)
c.1931A>G (p.Asp644Gly)
c.2111A>G (p.Asp704Gly)
c.1778A>G (p.Asp593Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.117592188A>TCA4451128CFTRc.2021A>T (p.Asp674Val)
c.*1735A>T (n.*1735A>T)
c.1838A>T (p.Asp613Val)
c.*321A>T (n.*321A>T)
c.*1845A>T (n.*1845A>T)
c.1595A>T (p.Asp532Val)
c.1402-10638A>T (n.1402-10638A>T)
c.1931A>T (p.Asp644Val)
c.2111A>T (p.Asp704Val)
c.1778A>T (p.Asp593Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.117592189T>ACA368979282CFTRc.2022T>A (p.Asp674Glu)
c.*1736T>A (n.*1736T>A)
c.1839T>A (p.Asp613Glu)
c.*322T>A (n.*322T>A)
c.*1846T>A (n.*1846T>A)
c.1596T>A (p.Asp532Glu)
c.1402-10637T>A (n.1402-10637T>A)
c.1932T>A (p.Asp644Glu)
c.2112T>A (p.Asp704Glu)
c.1779T>A (p.Asp593Glu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.117592189T>CCA457449002CFTRc.2022T>C (p.Asp674=)
c.*1736T>C (n.*1736T>C)
c.1839T>C (p.Asp613=)
c.*322T>C (n.*322T>C)
c.*1846T>C (n.*1846T>C)
c.1596T>C (p.Asp532=)
c.1402-10637T>C (n.1402-10637T>C)
c.1932T>C (p.Asp644=)
c.2112T>C (p.Asp704=)
c.1779T>C (p.Asp593=)
 ClinVar dbSNP
7g.117592189T>GCA368979283CFTRc.2022T>G (p.Asp674Glu)
c.*1736T>G (n.*1736T>G)
c.1839T>G (p.Asp613Glu)
c.*322T>G (n.*322T>G)
c.*1846T>G (n.*1846T>G)
c.1596T>G (p.Asp532Glu)
c.1402-10637T>G (n.1402-10637T>G)
c.1932T>G (p.Asp644Glu)
c.2112T>G (p.Asp704Glu)
c.1779T>G (p.Asp593Glu)
7g.117592189T=CA1737394499CFTRc.2022T= (p.Asp674=)
c.*1736T= (n.*1736T=)
c.1839T= (p.Asp613=)
c.*322T= (n.*322T=)
c.*1846T= (n.*1846T=)
c.1596T= (p.Asp532=)
c.1402-10637T= (n.1402-10637T=)
c.1932T= (p.Asp644=)
c.2112T= (p.Asp704=)
c.1779T= (p.Asp593=)
7g.117592190G>ACA368979285CFTRc.2023G>A (p.Ala675Thr)
c.*1737G>A (n.*1737G>A)
c.1840G>A (p.Ala614Thr)
c.*323G>A (n.*323G>A)
c.*1847G>A (n.*1847G>A)
c.1597G>A (p.Ala533Thr)
c.1402-10636G>A (n.1402-10636G>A)
c.1933G>A (p.Ala645Thr)
c.2113G>A (p.Ala705Thr)
c.1780G>A (p.Ala594Thr)
7g.117592190G>CCA368979287CFTRc.2023G>C (p.Ala675Pro)
c.*1737G>C (n.*1737G>C)
c.1840G>C (p.Ala614Pro)
c.*323G>C (n.*323G>C)
c.*1847G>C (n.*1847G>C)
c.1597G>C (p.Ala533Pro)
c.1402-10636G>C (n.1402-10636G>C)
c.1933G>C (p.Ala645Pro)
c.2113G>C (p.Ala705Pro)
c.1780G>C (p.Ala594Pro)
7g.117592190G>TCA368979289CFTRc.2023G>T (p.Ala675Ser)
c.*1737G>T (n.*1737G>T)
c.1840G>T (p.Ala614Ser)
c.*323G>T (n.*323G>T)
c.*1847G>T (n.*1847G>T)
c.1597G>T (p.Ala533Ser)
c.1402-10636G>T (n.1402-10636G>T)
c.1933G>T (p.Ala645Ser)
c.2113G>T (p.Ala705Ser)
c.1780G>T (p.Ala594Ser)
7g.117592191C>ACA368979292CFTRc.2024C>A (p.Ala675Asp)
c.*1738C>A (n.*1738C>A)
c.1841C>A (p.Ala614Asp)
c.*324C>A (n.*324C>A)
c.*1848C>A (n.*1848C>A)
c.1598C>A (p.Ala533Asp)
c.1402-10635C>A (n.1402-10635C>A)
c.1934C>A (p.Ala645Asp)
c.2114C>A (p.Ala705Asp)
c.1781C>A (p.Ala594Asp)
7g.117592191C=CA1737394506CFTRc.2024C= (p.Ala675=)
c.*1738C= (n.*1738C=)
c.1841C= (p.Ala614=)
c.*324C= (n.*324C=)
c.*1848C= (n.*1848C=)
c.1598C= (p.Ala533=)
c.1402-10635C= (n.1402-10635C=)
c.1934C= (p.Ala645=)
c.2114C= (p.Ala705=)
c.1781C= (p.Ala594=)
7g.117592191C>GCA368979293CFTRc.2024C>G (p.Ala675Gly)
c.*1738C>G (n.*1738C>G)
c.1841C>G (p.Ala614Gly)
c.*324C>G (n.*324C>G)
c.*1848C>G (n.*1848C>G)
c.1598C>G (p.Ala533Gly)
c.1402-10635C>G (n.1402-10635C>G)
c.1934C>G (p.Ala645Gly)
c.2114C>G (p.Ala705Gly)
c.1781C>G (p.Ala594Gly)
7g.117592191C>TCA368979291CFTRc.2024C>T (p.Ala675Val)
c.*1738C>T (n.*1738C>T)
c.1841C>T (p.Ala614Val)
c.*324C>T (n.*324C>T)
c.*1848C>T (n.*1848C>T)
c.1598C>T (p.Ala533Val)
c.1402-10635C>T (n.1402-10635C>T)
c.1934C>T (p.Ala645Val)
c.2114C>T (p.Ala705Val)
c.1781C>T (p.Ala594Val)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
7g.117592192T>ACA457449003CFTRc.2025T>A (p.Ala675=)
c.*1739T>A (n.*1739T>A)
c.1842T>A (p.Ala614=)
c.*325T>A (n.*325T>A)
c.*1849T>A (n.*1849T>A)
c.1599T>A (p.Ala533=)
c.1402-10634T>A (n.1402-10634T>A)
c.1935T>A (p.Ala645=)
c.2115T>A (p.Ala705=)
c.1782T>A (p.Ala594=)
7g.117592192T>CCA457449004CFTRc.2025T>C (p.Ala675=)
c.*1739T>C (n.*1739T>C)
c.1842T>C (p.Ala614=)
c.*325T>C (n.*325T>C)
c.*1849T>C (n.*1849T>C)
c.1599T>C (p.Ala533=)
c.1402-10634T>C (n.1402-10634T>C)
c.1935T>C (p.Ala645=)
c.2115T>C (p.Ala705=)
c.1782T>C (p.Ala594=)
7g.117592192T>GCA457449005CFTRc.2025T>G (p.Ala675=)
c.*1739T>G (n.*1739T>G)
c.1842T>G (p.Ala614=)
c.*325T>G (n.*325T>G)
c.*1849T>G (n.*1849T>G)
c.1599T>G (p.Ala533=)
c.1402-10634T>G (n.1402-10634T>G)
c.1935T>G (p.Ala645=)
c.2115T>G (p.Ala705=)
c.1782T>G (p.Ala594=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
7g.117592192T=CA1737394508CFTRc.2025T= (p.Ala675=)
c.*1739T= (n.*1739T=)
c.1842T= (p.Ala614=)
c.*325T= (n.*325T=)
c.*1849T= (n.*1849T=)
c.1599T= (p.Ala533=)
c.1402-10634T= (n.1402-10634T=)
c.1935T= (p.Ala645=)
c.2115T= (p.Ala705=)
c.1782T= (p.Ala594=)
7g.117592193C>ACA368979295CFTRc.2026C>A (p.Pro676Thr)
c.*1740C>A (n.*1740C>A)
c.1843C>A (p.Pro615Thr)
c.*326C>A (n.*326C>A)
c.*1850C>A (n.*1850C>A)
c.1600C>A (p.Pro534Thr)
c.1402-10633C>A (n.1402-10633C>A)
c.1936C>A (p.Pro646Thr)
c.2116C>A (p.Pro706Thr)
c.1783C>A (p.Pro595Thr)
 gnomAD v4
7g.117592193C=CA1737394515CFTRc.2026C= (p.Pro676=)
c.*1740C= (n.*1740C=)
c.1843C= (p.Pro615=)
c.*326C= (n.*326C=)
c.*1850C= (n.*1850C=)
c.1600C= (p.Pro534=)
c.1402-10633C= (n.1402-10633C=)
c.1936C= (p.Pro646=)
c.2116C= (p.Pro706=)
c.1783C= (p.Pro595=)
7g.117592193C>GCA4451129CFTRc.2026C>G (p.Pro676Ala)
c.*1740C>G (n.*1740C>G)
c.1843C>G (p.Pro615Ala)
c.*326C>G (n.*326C>G)
c.*1850C>G (n.*1850C>G)
c.1600C>G (p.Pro534Ala)
c.1402-10633C>G (n.1402-10633C>G)
c.1936C>G (p.Pro646Ala)
c.2116C>G (p.Pro706Ala)
c.1783C>G (p.Pro595Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.117592193C>TCA4451130CFTRc.2026C>T (p.Pro676Ser)
c.*1740C>T (n.*1740C>T)
c.1843C>T (p.Pro615Ser)
c.*326C>T (n.*326C>T)
c.*1850C>T (n.*1850C>T)
c.1600C>T (p.Pro534Ser)
c.1402-10633C>T (n.1402-10633C>T)
c.1936C>T (p.Pro646Ser)
c.2116C>T (p.Pro706Ser)
c.1783C>T (p.Pro595Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117592194C>ACA368979298CFTRc.2027C>A (p.Pro676His)
c.*1741C>A (n.*1741C>A)
c.1844C>A (p.Pro615His)
c.*327C>A (n.*327C>A)
c.*1851C>A (n.*1851C>A)
c.1601C>A (p.Pro534His)
c.1402-10632C>A (n.1402-10632C>A)
c.1937C>A (p.Pro646His)
c.2117C>A (p.Pro706His)
c.1784C>A (p.Pro595His)
7g.117592194C>GCA368979300CFTRc.2027C>G (p.Pro676Arg)
c.*1741C>G (n.*1741C>G)
c.1844C>G (p.Pro615Arg)
c.*327C>G (n.*327C>G)
c.*1851C>G (n.*1851C>G)
c.1601C>G (p.Pro534Arg)
c.1402-10632C>G (n.1402-10632C>G)
c.1937C>G (p.Pro646Arg)
c.2117C>G (p.Pro706Arg)
c.1784C>G (p.Pro595Arg)
7g.117592194C>TCA368979302CFTRc.2027C>T (p.Pro676Leu)
c.*1741C>T (n.*1741C>T)
c.1844C>T (p.Pro615Leu)
c.*327C>T (n.*327C>T)
c.*1851C>T (n.*1851C>T)
c.1601C>T (p.Pro534Leu)
c.1402-10632C>T (n.1402-10632C>T)
c.1937C>T (p.Pro646Leu)
c.2117C>T (p.Pro706Leu)
c.1784C>T (p.Pro595Leu)
7g.117592195T>ACA457449006CFTRc.2028T>A (p.Pro676=)
c.*1742T>A (n.*1742T>A)
c.1845T>A (p.Pro615=)
c.*328T>A (n.*328T>A)
c.*1852T>A (n.*1852T>A)
c.1602T>A (p.Pro534=)
c.1402-10631T>A (n.1402-10631T>A)
c.1938T>A (p.Pro646=)
c.2118T>A (p.Pro706=)
c.1785T>A (p.Pro595=)
7g.117592195T>CCA4451131CFTRc.2028T>C (p.Pro676=)
c.*1742T>C (n.*1742T>C)
c.1845T>C (p.Pro615=)
c.*328T>C (n.*328T>C)
c.*1852T>C (n.*1852T>C)
c.1602T>C (p.Pro534=)
c.1402-10631T>C (n.1402-10631T>C)
c.1938T>C (p.Pro646=)
c.2118T>C (p.Pro706=)
c.1785T>C (p.Pro595=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117592195T>GCA457449007CFTRc.2028T>G (p.Pro676=)
c.*1742T>G (n.*1742T>G)
c.1845T>G (p.Pro615=)
c.*328T>G (n.*328T>G)
c.*1852T>G (n.*1852T>G)
c.1602T>G (p.Pro534=)
c.1402-10631T>G (n.1402-10631T>G)
c.1938T>G (p.Pro646=)
c.2118T>G (p.Pro706=)
c.1785T>G (p.Pro595=)
7g.117592195T=CA1737394523CFTRc.2028T= (p.Pro676=)
c.*1742T= (n.*1742T=)
c.1845T= (p.Pro615=)
c.*328T= (n.*328T=)
c.*1852T= (n.*1852T=)
c.1602T= (p.Pro534=)
c.1402-10631T= (n.1402-10631T=)
c.1938T= (p.Pro646=)
c.2118T= (p.Pro706=)
c.1785T= (p.Pro595=)
7g.117592196G>ACA368979307CFTRc.2029G>A (p.Val677Ile)
c.*1743G>A (n.*1743G>A)
c.1846G>A (p.Val616Ile)
c.*329G>A (n.*329G>A)
c.*1853G>A (n.*1853G>A)
c.1603G>A (p.Val535Ile)
c.1402-10630G>A (n.1402-10630G>A)
c.1939G>A (p.Val647Ile)
c.2119G>A (p.Val707Ile)
c.1786G>A (p.Val596Ile)
7g.117592196G>CCA368979308CFTRc.2029G>C (p.Val677Leu)
c.*1743G>C (n.*1743G>C)
c.1846G>C (p.Val616Leu)
c.*329G>C (n.*329G>C)
c.*1853G>C (n.*1853G>C)
c.1603G>C (p.Val535Leu)
c.1402-10630G>C (n.1402-10630G>C)
c.1939G>C (p.Val647Leu)
c.2119G>C (p.Val707Leu)
c.1786G>C (p.Val596Leu)
7g.117592196G>TCA368979310CFTRc.2029G>T (p.Val677Phe)
c.*1743G>T (n.*1743G>T)
c.1846G>T (p.Val616Phe)
c.*329G>T (n.*329G>T)
c.*1853G>T (n.*1853G>T)
c.1603G>T (p.Val535Phe)
c.1402-10630G>T (n.1402-10630G>T)
c.1939G>T (p.Val647Phe)
c.2119G>T (p.Val707Phe)
c.1786G>T (p.Val596Phe)
7g.117592197T>ACA368979313CFTRc.2030T>A (p.Val677Asp)
c.*1744T>A (n.*1744T>A)
c.1847T>A (p.Val616Asp)
c.*330T>A (n.*330T>A)
c.*1854T>A (n.*1854T>A)
c.1604T>A (p.Val535Asp)
c.1402-10629T>A (n.1402-10629T>A)
c.1940T>A (p.Val647Asp)
c.2120T>A (p.Val707Asp)
c.1787T>A (p.Val596Asp)
 gnomAD v4
7g.117592197T>CCA368979315CFTRc.2030T>C (p.Val677Ala)
c.*1744T>C (n.*1744T>C)
c.1847T>C (p.Val616Ala)
c.*330T>C (n.*330T>C)
c.*1854T>C (n.*1854T>C)
c.1604T>C (p.Val535Ala)
c.1402-10629T>C (n.1402-10629T>C)
c.1940T>C (p.Val647Ala)
c.2120T>C (p.Val707Ala)
c.1787T>C (p.Val596Ala)
7g.117592197T>GCA368979317CFTRc.2030T>G (p.Val677Gly)
c.*1744T>G (n.*1744T>G)
c.1847T>G (p.Val616Gly)
c.*330T>G (n.*330T>G)
c.*1854T>G (n.*1854T>G)
c.1604T>G (p.Val535Gly)
c.1402-10629T>G (n.1402-10629T>G)
c.1940T>G (p.Val647Gly)
c.2120T>G (p.Val707Gly)
c.1787T>G (p.Val596Gly)
7g.117592198C>ACA457449008CFTRc.2031C>A (p.Val677=)
c.*1745C>A (n.*1745C>A)
c.1848C>A (p.Val616=)
c.*331C>A (n.*331C>A)
c.*1855C>A (n.*1855C>A)
c.1605C>A (p.Val535=)
c.1402-10628C>A (n.1402-10628C>A)
c.1941C>A (p.Val647=)
c.2121C>A (p.Val707=)
c.1788C>A (p.Val596=)
7g.117592198C>GCA457449010CFTRc.2031C>G (p.Val677=)
c.*1745C>G (n.*1745C>G)
c.1848C>G (p.Val616=)
c.*331C>G (n.*331C>G)
c.*1855C>G (n.*1855C>G)
c.1605C>G (p.Val535=)
c.1402-10628C>G (n.1402-10628C>G)
c.1941C>G (p.Val647=)
c.2121C>G (p.Val707=)
c.1788C>G (p.Val596=)
7g.117592198C>TCA457449009CFTRc.2031C>T (p.Val677=)
c.*1745C>T (n.*1745C>T)
c.1848C>T (p.Val616=)
c.*331C>T (n.*331C>T)
c.*1855C>T (n.*1855C>T)
c.1605C>T (p.Val535=)
c.1402-10628C>T (n.1402-10628C>T)
c.1941C>T (p.Val647=)
c.2121C>T (p.Val707=)
c.1788C>T (p.Val596=)
7g.117592199T>ACA368979319CFTRc.2032T>A (p.Ser678Thr)
c.*1746T>A (n.*1746T>A)
c.1849T>A (p.Ser617Thr)
c.*332T>A (n.*332T>A)
c.*1856T>A (n.*1856T>A)
c.1606T>A (p.Ser536Thr)
c.1402-10627T>A (n.1402-10627T>A)
c.1942T>A (p.Ser648Thr)
c.2122T>A (p.Ser708Thr)
c.1789T>A (p.Ser597Thr)
7g.117592199T>CCA368979323CFTRc.2032T>C (p.Ser678Pro)
c.*1746T>C (n.*1746T>C)
c.1849T>C (p.Ser617Pro)
c.*332T>C (n.*332T>C)
c.*1856T>C (n.*1856T>C)
c.1606T>C (p.Ser536Pro)
c.1402-10627T>C (n.1402-10627T>C)
c.1942T>C (p.Ser648Pro)
c.2122T>C (p.Ser708Pro)
c.1789T>C (p.Ser597Pro)
 gnomAD v4
7g.117592199T>GCA368979321CFTRc.2032T>G (p.Ser678Ala)
c.*1746T>G (n.*1746T>G)
c.1849T>G (p.Ser617Ala)
c.*332T>G (n.*332T>G)
c.*1856T>G (n.*1856T>G)
c.1606T>G (p.Ser536Ala)
c.1402-10627T>G (n.1402-10627T>G)
c.1942T>G (p.Ser648Ala)
c.2122T>G (p.Ser708Ala)
c.1789T>G (p.Ser597Ala)
7g.117592200C>ACA368979326CFTRc.2033C>A (p.Ser678Tyr)
c.*1747C>A (n.*1747C>A)
c.1850C>A (p.Ser617Tyr)
c.*333C>A (n.*333C>A)
c.*1857C>A (n.*1857C>A)
c.1607C>A (p.Ser536Tyr)
c.1402-10626C>A (n.1402-10626C>A)
c.1943C>A (p.Ser648Tyr)
c.2123C>A (p.Ser708Tyr)
c.1790C>A (p.Ser597Tyr)
7g.117592200C=CA1737394526CFTRc.2033C= (p.Ser678=)
c.*1747C= (n.*1747C=)
c.1850C= (p.Ser617=)
c.*333C= (n.*333C=)
c.*1857C= (n.*1857C=)
c.1607C= (p.Ser536=)
c.1402-10626C= (n.1402-10626C=)
c.1943C= (p.Ser648=)
c.2123C= (p.Ser708=)
c.1790C= (p.Ser597=)
7g.117592200C>GCA368979327CFTRc.2033C>G (p.Ser678Cys)
c.*1747C>G (n.*1747C>G)
c.1850C>G (p.Ser617Cys)
c.*333C>G (n.*333C>G)
c.*1857C>G (n.*1857C>G)
c.1607C>G (p.Ser536Cys)
c.1402-10626C>G (n.1402-10626C>G)
c.1943C>G (p.Ser648Cys)
c.2123C>G (p.Ser708Cys)
c.1790C>G (p.Ser597Cys)
7g.117592200C>TCA4451132CFTRc.2033C>T (p.Ser678Phe)
c.*1747C>T (n.*1747C>T)
c.1850C>T (p.Ser617Phe)
c.*333C>T (n.*333C>T)
c.*1857C>T (n.*1857C>T)
c.1607C>T (p.Ser536Phe)
c.1402-10626C>T (n.1402-10626C>T)
c.1943C>T (p.Ser648Phe)
c.2123C>T (p.Ser708Phe)
c.1790C>T (p.Ser597Phe)
 ClinVar dbSNP ExAC gnomAD v4
7g.117592201C>ACA457449011CFTRc.2034C>A (p.Ser678=)
c.*1748C>A (n.*1748C>A)
c.1851C>A (p.Ser617=)
c.*334C>A (n.*334C>A)
c.*1858C>A (n.*1858C>A)
c.1608C>A (p.Ser536=)
c.1402-10625C>A (n.1402-10625C>A)
c.1944C>A (p.Ser648=)
c.2124C>A (p.Ser708=)
c.1791C>A (p.Ser597=)
7g.117592201C>GCA457449012CFTRc.2034C>G (p.Ser678=)
c.*1748C>G (n.*1748C>G)
c.1851C>G (p.Ser617=)
c.*334C>G (n.*334C>G)
c.*1858C>G (n.*1858C>G)
c.1608C>G (p.Ser536=)
c.1402-10625C>G (n.1402-10625C>G)
c.1944C>G (p.Ser648=)
c.2124C>G (p.Ser708=)
c.1791C>G (p.Ser597=)
7g.117592201C>TCA457449013CFTRc.2034C>T (p.Ser678=)
c.*1748C>T (n.*1748C>T)
c.1851C>T (p.Ser617=)
c.*334C>T (n.*334C>T)
c.*1858C>T (n.*1858C>T)
c.1608C>T (p.Ser536=)
c.1402-10625C>T (n.1402-10625C>T)
c.1944C>T (p.Ser648=)
c.2124C>T (p.Ser708=)
c.1791C>T (p.Ser597=)
7g.117592202T>ACA368979333CFTRc.2035T>A (p.Trp679Arg)
c.*1749T>A (n.*1749T>A)
c.1852T>A (p.Trp618Arg)
c.*335T>A (n.*335T>A)
c.*1859T>A (n.*1859T>A)
c.1609T>A (p.Trp537Arg)
c.1402-10624T>A (n.1402-10624T>A)
c.1945T>A (p.Trp649Arg)
c.2125T>A (p.Trp709Arg)
c.1792T>A (p.Trp598Arg)
7g.117592202T>CCA368979334CFTRc.2035T>C (p.Trp679Arg)
c.*1749T>C (n.*1749T>C)
c.1852T>C (p.Trp618Arg)
c.*335T>C (n.*335T>C)
c.*1859T>C (n.*1859T>C)
c.1609T>C (p.Trp537Arg)
c.1402-10624T>C (n.1402-10624T>C)
c.1945T>C (p.Trp649Arg)
c.2125T>C (p.Trp709Arg)
c.1792T>C (p.Trp598Arg)
 ClinVar
7g.117592202T>GCA368979336CFTRc.2035T>G (p.Trp679Gly)
c.*1749T>G (n.*1749T>G)
c.1852T>G (p.Trp618Gly)
c.*335T>G (n.*335T>G)
c.*1859T>G (n.*1859T>G)
c.1609T>G (p.Trp537Gly)
c.1402-10624T>G (n.1402-10624T>G)
c.1945T>G (p.Trp649Gly)
c.2125T>G (p.Trp709Gly)
c.1792T>G (p.Trp598Gly)
7g.117592203G>ACA326734CFTRc.2036G>A (p.Trp679Ter)
c.*1750G>A (n.*1750G>A)
c.1853G>A (p.Trp618Ter)
c.*336G>A (n.*336G>A)
c.*1860G>A (n.*1860G>A)
c.1610G>A (p.Trp537Ter)
c.1402-10623G>A (n.1402-10623G>A)
c.1946G>A (p.Trp649Ter)
c.2126G>A (p.Trp709Ter)
c.1793G>A (p.Trp598Ter)
 ClinVar dbSNP
7g.117592203G>CCA368979338CFTRc.2036G>C (p.Trp679Ser)
c.*1750G>C (n.*1750G>C)
c.1853G>C (p.Trp618Ser)
c.*336G>C (n.*336G>C)
c.*1860G>C (n.*1860G>C)
c.1610G>C (p.Trp537Ser)
c.1402-10623G>C (n.1402-10623G>C)
c.1946G>C (p.Trp649Ser)
c.2126G>C (p.Trp709Ser)
c.1793G>C (p.Trp598Ser)
7g.117592203G=CA1737394531CFTRc.2036G= (p.Trp679=)
c.*1750G= (n.*1750G=)
c.1853G= (p.Trp618=)
c.*336G= (n.*336G=)
c.*1860G= (n.*1860G=)
c.1610G= (p.Trp537=)
c.1402-10623G= (n.1402-10623G=)
c.1946G= (p.Trp649=)
c.2126G= (p.Trp709=)
c.1793G= (p.Trp598=)
7g.117592203G>TCA368979340CFTRc.2036G>T (p.Trp679Leu)
c.*1750G>T (n.*1750G>T)
c.1853G>T (p.Trp618Leu)
c.*336G>T (n.*336G>T)
c.*1860G>T (n.*1860G>T)
c.1610G>T (p.Trp537Leu)
c.1402-10623G>T (n.1402-10623G>T)
c.1946G>T (p.Trp649Leu)
c.2126G>T (p.Trp709Leu)
c.1793G>T (p.Trp598Leu)
7g.117592204G>ACA368979342CFTRc.2037G>A (p.Trp679Ter)
c.*1751G>A (n.*1751G>A)
c.1854G>A (p.Trp618Ter)
c.*337G>A (n.*337G>A)
c.*1861G>A (n.*1861G>A)
c.1611G>A (p.Trp537Ter)
c.1402-10622G>A (n.1402-10622G>A)
c.1947G>A (p.Trp649Ter)
c.2127G>A (p.Trp709Ter)
c.1794G>A (p.Trp598Ter)
 gnomAD v4
7g.117592204G>CCA368979344CFTRc.2037G>C (p.Trp679Cys)
c.*1751G>C (n.*1751G>C)
c.1854G>C (p.Trp618Cys)
c.*337G>C (n.*337G>C)
c.*1861G>C (n.*1861G>C)
c.1611G>C (p.Trp537Cys)
c.1402-10622G>C (n.1402-10622G>C)
c.1947G>C (p.Trp649Cys)
c.2127G>C (p.Trp709Cys)
c.1794G>C (p.Trp598Cys)
7g.117592204G>TCA368979347CFTRc.2037G>T (p.Trp679Cys)
c.*1751G>T (n.*1751G>T)
c.1854G>T (p.Trp618Cys)
c.*337G>T (n.*337G>T)
c.*1861G>T (n.*1861G>T)
c.1611G>T (p.Trp537Cys)
c.1402-10622G>T (n.1402-10622G>T)
c.1947G>T (p.Trp649Cys)
c.2127G>T (p.Trp709Cys)
c.1794G>T (p.Trp598Cys)
7g.117592205A>CCA368979350CFTRc.2038A>C (p.Thr680Pro)
c.*1752A>C (n.*1752A>C)
c.1855A>C (p.Thr619Pro)
c.*338A>C (n.*338A>C)
c.*1862A>C (n.*1862A>C)
c.1612A>C (p.Thr538Pro)
c.1402-10621A>C (n.1402-10621A>C)
c.1948A>C (p.Thr650Pro)
c.2128A>C (p.Thr710Pro)
c.1795A>C (p.Thr599Pro)
7g.117592205A>GCA368979352CFTRc.2038A>G (p.Thr680Ala)
c.*1752A>G (n.*1752A>G)
c.1855A>G (p.Thr619Ala)
c.*338A>G (n.*338A>G)
c.*1862A>G (n.*1862A>G)
c.1612A>G (p.Thr538Ala)
c.1402-10621A>G (n.1402-10621A>G)
c.1948A>G (p.Thr650Ala)
c.2128A>G (p.Thr710Ala)
c.1795A>G (p.Thr599Ala)
7g.117592205A>TCA368979348CFTRc.2038A>T (p.Thr680Ser)
c.*1752A>T (n.*1752A>T)
c.1855A>T (p.Thr619Ser)
c.*338A>T (n.*338A>T)
c.*1862A>T (n.*1862A>T)
c.1612A>T (p.Thr538Ser)
c.1402-10621A>T (n.1402-10621A>T)
c.1948A>T (p.Thr650Ser)
c.2128A>T (p.Thr710Ser)
c.1795A>T (p.Thr599Ser)
7g.117592206C>ACA368979356CFTRc.2039C>A (p.Thr680Lys)
c.*1753C>A (n.*1753C>A)
c.1856C>A (p.Thr619Lys)
c.*339C>A (n.*339C>A)
c.*1863C>A (n.*1863C>A)
c.1613C>A (p.Thr538Lys)
c.1402-10620C>A (n.1402-10620C>A)
c.1949C>A (p.Thr650Lys)
c.2129C>A (p.Thr710Lys)
c.1796C>A (p.Thr599Lys)
 gnomAD v3 gnomAD v4
7g.117592206C>GCA368979357CFTRc.2039C>G (p.Thr680Arg)
c.*1753C>G (n.*1753C>G)
c.1856C>G (p.Thr619Arg)
c.*339C>G (n.*339C>G)
c.*1863C>G (n.*1863C>G)
c.1613C>G (p.Thr538Arg)
c.1402-10620C>G (n.1402-10620C>G)
c.1949C>G (p.Thr650Arg)
c.2129C>G (p.Thr710Arg)
c.1796C>G (p.Thr599Arg)
 gnomAD v4
7g.117592206C>TCA368979360CFTRc.2039C>T (p.Thr680Ile)
c.*1753C>T (n.*1753C>T)
c.1856C>T (p.Thr619Ile)
c.*339C>T (n.*339C>T)
c.*1863C>T (n.*1863C>T)
c.1613C>T (p.Thr538Ile)
c.1402-10620C>T (n.1402-10620C>T)
c.1949C>T (p.Thr650Ile)
c.2129C>T (p.Thr710Ile)
c.1796C>T (p.Thr599Ile)
7g.117592207A>CCA457449014CFTRc.2040A>C (p.Thr680=)
c.*1754A>C (n.*1754A>C)
c.1857A>C (p.Thr619=)
c.*340A>C (n.*340A>C)
c.*1864A>C (n.*1864A>C)
c.1614A>C (p.Thr538=)
c.1402-10619A>C (n.1402-10619A>C)
c.1950A>C (p.Thr650=)
c.2130A>C (p.Thr710=)
c.1797A>C (p.Thr599=)
 gnomAD v4
7g.117592207A>GCA457449015CFTRc.2040A>G (p.Thr680=)
c.*1754A>G (n.*1754A>G)
c.1857A>G (p.Thr619=)
c.*340A>G (n.*340A>G)
c.*1864A>G (n.*1864A>G)
c.1614A>G (p.Thr538=)
c.1402-10619A>G (n.1402-10619A>G)
c.1950A>G (p.Thr650=)
c.2130A>G (p.Thr710=)
c.1797A>G (p.Thr599=)
7g.117592207A>TCA457449016CFTRc.2040A>T (p.Thr680=)
c.*1754A>T (n.*1754A>T)
c.1857A>T (p.Thr619=)
c.*340A>T (n.*340A>T)
c.*1864A>T (n.*1864A>T)
c.1614A>T (p.Thr538=)
c.1402-10619A>T (n.1402-10619A>T)
c.1950A>T (p.Thr650=)
c.2130A>T (p.Thr710=)
c.1797A>T (p.Thr599=)
7g.117592208_117592209delCA913111879CFTRc.2041_2042del (p.Glu681AsnfsTer7)
c.*1755_*1756del (n.*1755_*1756del)
c.1858_1859del (p.Glu620AsnfsTer7)
c.*341_*342del (n.*341_*342del)
c.*1865_*1866del (n.*1865_*1866del)
c.1615_1616del (p.Glu539AsnfsTer7)
c.1402-10618_1402-10617del (n.1402-10618_1402-10617del)
c.1951_1952del (p.Glu651AsnfsTer7)
c.2131_2132del (p.Glu711AsnfsTer7)
c.1798_1799del (p.Glu600AsnfsTer7)
7g.117592208G>ACA368979363CFTRc.2041G>A (p.Glu681Lys)
c.*1755G>A (n.*1755G>A)
c.1858G>A (p.Glu620Lys)
c.*341G>A (n.*341G>A)
c.*1865G>A (n.*1865G>A)
c.1615G>A (p.Glu539Lys)
c.1402-10618G>A (n.1402-10618G>A)
c.1951G>A (p.Glu651Lys)
c.2131G>A (p.Glu711Lys)
c.1798G>A (p.Glu600Lys)
 gnomAD v3 gnomAD v4
7g.117592208G>CCA368979366CFTRc.2041G>C (p.Glu681Gln)
c.*1755G>C (n.*1755G>C)
c.1858G>C (p.Glu620Gln)
c.*341G>C (n.*341G>C)
c.*1865G>C (n.*1865G>C)
c.1615G>C (p.Glu539Gln)
c.1402-10618G>C (n.1402-10618G>C)
c.1951G>C (p.Glu651Gln)
c.2131G>C (p.Glu711Gln)
c.1798G>C (p.Glu600Gln)
 COSMIC
7g.117592208G=CA1737394536CFTRc.2041G= (p.Glu681=)
c.*1755G= (n.*1755G=)
c.1858G= (p.Glu620=)
c.*341G= (n.*341G=)
c.*1865G= (n.*1865G=)
c.1615G= (p.Glu539=)
c.1402-10618G= (n.1402-10618G=)
c.1951G= (p.Glu651=)
c.2131G= (p.Glu711=)
c.1798G= (p.Glu600=)
7g.117592208G>TCA368979368CFTRc.2041G>T (p.Glu681Ter)
c.*1755G>T (n.*1755G>T)
c.1858G>T (p.Glu620Ter)
c.*341G>T (n.*341G>T)
c.*1865G>T (n.*1865G>T)
c.1615G>T (p.Glu539Ter)
c.1402-10618G>T (n.1402-10618G>T)
c.1951G>T (p.Glu651Ter)
c.2131G>T (p.Glu711Ter)
c.1798G>T (p.Glu600Ter)
7g.117592208_117592209delinsGACA1737394535CFTRc.2041_2042delinsGA (p.Glu681=)
c.*1755_*1756delinsGA (n.*1755_*1756delinsGA)
c.1858_1859delinsGA (p.Glu620=)
c.*341_*342delinsGA (n.*341_*342delinsGA)
c.*1865_*1866delinsGA (n.*1865_*1866delinsGA)
c.1615_1616delinsGA (p.Glu539=)
c.1402-10618_1402-10617delinsGA (n.1402-10618_1402-10617delinsGA)
c.1951_1952delinsGA (p.Glu651=)
c.2131_2132delinsGA (p.Glu711=)
c.1798_1799delinsGA (p.Glu600=)
7g.117592209A=CA1737394553CFTRc.2042A= (p.Glu681=)
c.*1756A= (n.*1756A=)
c.1859A= (p.Glu620=)
c.*342A= (n.*342A=)
c.*1866A= (n.*1866A=)
c.1616A= (p.Glu539=)
c.1402-10617A= (n.1402-10617A=)
c.1952A= (p.Glu651=)
c.2132A= (p.Glu711=)
c.1799A= (p.Glu600=)
7g.117592209A>CCA368979373CFTRc.2042A>C (p.Glu681Ala)
c.*1756A>C (n.*1756A>C)
c.1859A>C (p.Glu620Ala)
c.*342A>C (n.*342A>C)
c.*1866A>C (n.*1866A>C)
c.1616A>C (p.Glu539Ala)
c.1402-10617A>C (n.1402-10617A>C)
c.1952A>C (p.Glu651Ala)
c.2132A>C (p.Glu711Ala)
c.1799A>C (p.Glu600Ala)
7g.117592209A>GCA368979370CFTRc.2042A>G (p.Glu681Gly)
c.*1756A>G (n.*1756A>G)
c.1859A>G (p.Glu620Gly)
c.*342A>G (n.*342A>G)
c.*1866A>G (n.*1866A>G)
c.1616A>G (p.Glu539Gly)
c.1402-10617A>G (n.1402-10617A>G)
c.1952A>G (p.Glu651Gly)
c.2132A>G (p.Glu711Gly)
c.1799A>G (p.Glu600Gly)
7g.117592209A>TCA4451133CFTRc.2042A>T (p.Glu681Val)
c.*1756A>T (n.*1756A>T)
c.1859A>T (p.Glu620Val)
c.*342A>T (n.*342A>T)
c.*1866A>T (n.*1866A>T)
c.1616A>T (p.Glu539Val)
c.1402-10617A>T (n.1402-10617A>T)
c.1952A>T (p.Glu651Val)
c.2132A>T (p.Glu711Val)
c.1799A>T (p.Glu600Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117592211dupCA915945425CFTRc.2044dup (p.Thr682AsnfsTer7)
c.*1758dup (n.*1758dup)
c.1861dup (p.Thr621AsnfsTer7)
c.*344dup (n.*344dup)
c.*1868dup (n.*1868dup)
c.1618dup (p.Thr540AsnfsTer7)
c.1402-10615dup (n.1402-10615dup)
c.1954dup (p.Thr652AsnfsTer7)
c.2134dup (p.Thr712AsnfsTer7)
c.1801dup (p.Thr601AsnfsTer7)
 ClinVar dbSNP
7g.117592211delCA658822499CFTRc.2044del (p.Thr682GlnfsTer?)
c.*1758del (n.*1758del)
c.1861del (p.Thr621GlnfsTer?)
c.*344del (n.*344del)
c.*1868del (n.*1868del)
c.1618del (p.Thr540GlnfsTer?)
c.1402-10615del (n.1402-10615del)
c.1954del (p.Thr652GlnfsTer?)
c.2134del (p.Thr712GlnfsTer?)
c.1801del (p.Thr601GlnfsTer?)
 ClinVar dbSNP
7g.117592215_117592222dupCA1106305610CFTRc.2048_2055dup (p.Ser686LysfsTer?)
c.*1762_*1769dup (n.*1762_*1769dup)
c.1865_1872dup (p.Ser625LysfsTer?)
c.*348_*355dup (n.*348_*355dup)
c.*1872_*1879dup (n.*1872_*1879dup)
c.1622_1629dup (p.Ser544LysfsTer?)
c.1402-10611_1402-10604dup (n.1402-10611_1402-10604dup)
c.1958_1965dup (p.Ser656LysfsTer?)
c.2138_2145dup (p.Ser716LysfsTer?)
c.1805_1812dup (p.Ser605LysfsTer?)
 dbSNP gnomAD v3 gnomAD v4
7g.117592210A>CCA368979375CFTRc.2043A>C (p.Glu681Asp)
c.*1757A>C (n.*1757A>C)
c.1860A>C (p.Glu620Asp)
c.*343A>C (n.*343A>C)
c.*1867A>C (n.*1867A>C)
c.1617A>C (p.Glu539Asp)
c.1402-10616A>C (n.1402-10616A>C)
c.1953A>C (p.Glu651Asp)
c.2133A>C (p.Glu711Asp)
c.1800A>C (p.Glu600Asp)
7g.117592210A>GCA457449017CFTRc.2043A>G (p.Glu681=)
c.*1757A>G (n.*1757A>G)
c.1860A>G (p.Glu620=)
c.*343A>G (n.*343A>G)
c.*1867A>G (n.*1867A>G)
c.1617A>G (p.Glu539=)
c.1402-10616A>G (n.1402-10616A>G)
c.1953A>G (p.Glu651=)
c.2133A>G (p.Glu711=)
c.1800A>G (p.Glu600=)
7g.117592210A>TCA368979377CFTRc.2043A>T (p.Glu681Asp)
c.*1757A>T (n.*1757A>T)
c.1860A>T (p.Glu620Asp)
c.*343A>T (n.*343A>T)
c.*1867A>T (n.*1867A>T)
c.1617A>T (p.Glu539Asp)
c.1402-10616A>T (n.1402-10616A>T)
c.1953A>T (p.Glu651Asp)
c.2133A>T (p.Glu711Asp)
c.1800A>T (p.Glu600Asp)
7g.117592211A=CA1737394560CFTRc.2044A= (p.Thr682=)
c.*1758A= (n.*1758A=)
c.1861A= (p.Thr621=)
c.*344A= (n.*344A=)
c.*1868A= (n.*1868A=)
c.1618A= (p.Thr540=)
c.1402-10615A= (n.1402-10615A=)
c.1954A= (p.Thr652=)
c.2134A= (p.Thr712=)
c.1801A= (p.Thr601=)
7g.117592211A>CCA368979380CFTRc.2044A>C (p.Thr682Pro)
c.*1758A>C (n.*1758A>C)
c.1861A>C (p.Thr621Pro)
c.*344A>C (n.*344A>C)
c.*1868A>C (n.*1868A>C)
c.1618A>C (p.Thr540Pro)
c.1402-10615A>C (n.1402-10615A>C)
c.1954A>C (p.Thr652Pro)
c.2134A>C (p.Thr712Pro)
c.1801A>C (p.Thr601Pro)
7g.117592211A>GCA368979383CFTRc.2044A>G (p.Thr682Ala)
c.*1758A>G (n.*1758A>G)
c.1861A>G (p.Thr621Ala)
c.*344A>G (n.*344A>G)
c.*1868A>G (n.*1868A>G)
c.1618A>G (p.Thr540Ala)
c.1402-10615A>G (n.1402-10615A>G)
c.1954A>G (p.Thr652Ala)
c.2134A>G (p.Thr712Ala)
c.1801A>G (p.Thr601Ala)
7g.117592211A>TCA368979386CFTRc.2044A>T (p.Thr682Ser)
c.*1758A>T (n.*1758A>T)
c.1861A>T (p.Thr621Ser)
c.*344A>T (n.*344A>T)
c.*1868A>T (n.*1868A>T)
c.1618A>T (p.Thr540Ser)
c.1402-10615A>T (n.1402-10615A>T)
c.1954A>T (p.Thr652Ser)
c.2134A>T (p.Thr712Ser)
c.1801A>T (p.Thr601Ser)
7g.117592211_117592212delinsACCA1737394561CFTRc.2044_2045delinsAC (p.Thr682=)
c.*1758_*1759delinsAC (n.*1758_*1759delinsAC)
c.1861_1862delinsAC (p.Thr621=)
c.*344_*345delinsAC (n.*344_*345delinsAC)
c.*1868_*1869delinsAC (n.*1868_*1869delinsAC)
c.1618_1619delinsAC (p.Thr540=)
c.1402-10615_1402-10614delinsAC (n.1402-10615_1402-10614delinsAC)
c.1954_1955delinsAC (p.Thr652=)
c.2134_2135delinsAC (p.Thr712=)
c.1801_1802delinsAC (p.Thr601=)
7g.117592212delCA915945426CFTRc.2045del (p.Thr682LysfsTer?)
c.*1759del (n.*1759del)
c.1862del (p.Thr621LysfsTer?)
c.*345del (n.*345del)
c.*1869del (n.*1869del)
c.1619del (p.Thr540LysfsTer?)
c.1402-10614del (n.1402-10614del)
c.1955del (p.Thr652LysfsTer?)
c.2135del (p.Thr712LysfsTer?)
c.1802del (p.Thr601LysfsTer?)
 ClinVar dbSNP
7g.117592212C>ACA368979389CFTRc.2045C>A (p.Thr682Lys)
c.*1759C>A (n.*1759C>A)
c.1862C>A (p.Thr621Lys)
c.*345C>A (n.*345C>A)
c.*1869C>A (n.*1869C>A)
c.1619C>A (p.Thr540Lys)
c.1402-10614C>A (n.1402-10614C>A)
c.1955C>A (p.Thr652Lys)
c.2135C>A (p.Thr712Lys)
c.1802C>A (p.Thr601Lys)
 ClinVar gnomAD v3 gnomAD v4
7g.117592212C>GCA368979394CFTRc.2045C>G (p.Thr682Arg)
c.*1759C>G (n.*1759C>G)
c.1862C>G (p.Thr621Arg)
c.*345C>G (n.*345C>G)
c.*1869C>G (n.*1869C>G)
c.1619C>G (p.Thr540Arg)
c.1402-10614C>G (n.1402-10614C>G)
c.1955C>G (p.Thr652Arg)
c.2135C>G (p.Thr712Arg)
c.1802C>G (p.Thr601Arg)
7g.117592212C>TCA368979392CFTRc.2045C>T (p.Thr682Ile)
c.*1759C>T (n.*1759C>T)
c.1862C>T (p.Thr621Ile)
c.*345C>T (n.*345C>T)
c.*1869C>T (n.*1869C>T)
c.1619C>T (p.Thr540Ile)
c.1402-10614C>T (n.1402-10614C>T)
c.1955C>T (p.Thr652Ile)
c.2135C>T (p.Thr712Ile)
c.1802C>T (p.Thr601Ile)
7g.117592212dupCA326736CFTRc.2045dup (p.Gln685ThrfsTer4)
c.*1759dup (n.*1759dup)
c.1862dup (p.Gln624ThrfsTer4)
c.*345dup (n.*345dup)
c.*1869dup (n.*1869dup)
c.1619dup (p.Gln543ThrfsTer4)
c.1402-10614dup (n.1402-10614dup)
c.1955dup (p.Gln655ThrfsTer4)
c.2135dup (p.Gln715ThrfsTer4)
c.1802dup (p.Gln604ThrfsTer4)
 ClinVar dbSNP
7g.117592212_117592214delinsCAACA1737394575CFTRc.2045_2047delinsCAA (p.Thr682=)
c.*1759_*1761delinsCAA (n.*1759_*1761delinsCAA)
c.1862_1864delinsCAA (p.Thr621=)
c.*345_*347delinsCAA (n.*345_*347delinsCAA)
c.*1869_*1871delinsCAA (n.*1869_*1871delinsCAA)
c.1619_1621delinsCAA (p.Thr540=)
c.1402-10614_1402-10612delinsCAA (n.1402-10614_1402-10612delinsCAA)
c.1955_1957delinsCAA (p.Thr652=)
c.2135_2137delinsCAA (p.Thr712=)
c.1802_1804delinsCAA (p.Thr601=)
7g.117592213A>CCA457449018CFTRc.2046A>C (p.Thr682=)
c.*1760A>C (n.*1760A>C)
c.1863A>C (p.Thr621=)
c.*346A>C (n.*346A>C)
c.*1870A>C (n.*1870A>C)
c.1620A>C (p.Thr540=)
c.1402-10613A>C (n.1402-10613A>C)
c.1956A>C (p.Thr652=)
c.2136A>C (p.Thr712=)
c.1803A>C (p.Thr601=)
7g.117592213A>GCA457449019CFTRc.2046A>G (p.Thr682=)
c.*1760A>G (n.*1760A>G)
c.1863A>G (p.Thr621=)
c.*346A>G (n.*346A>G)
c.*1870A>G (n.*1870A>G)
c.1620A>G (p.Thr540=)
c.1402-10613A>G (n.1402-10613A>G)
c.1956A>G (p.Thr652=)
c.2136A>G (p.Thr712=)
c.1803A>G (p.Thr601=)
 ClinVar dbSNP
7g.117592213A>TCA457449020CFTRc.2046A>T (p.Thr682=)
c.*1760A>T (n.*1760A>T)
c.1863A>T (p.Thr621=)
c.*346A>T (n.*346A>T)
c.*1870A>T (n.*1870A>T)
c.1620A>T (p.Thr540=)
c.1402-10613A>T (n.1402-10613A>T)
c.1956A>T (p.Thr652=)
c.2136A>T (p.Thr712=)
c.1803A>T (p.Thr601=)
7g.117592219dupCA233699CFTRc.2052dup (p.Gln685ThrfsTer4)
c.*1766dup (n.*1766dup)
c.1869dup (p.Gln624ThrfsTer4)
c.*352dup (n.*352dup)
c.*1876dup (n.*1876dup)
c.1626dup (p.Gln543ThrfsTer4)
c.1402-10607dup (n.1402-10607dup)
c.1962dup (p.Gln655ThrfsTer4)
c.2142dup (p.Gln715ThrfsTer4)
c.1809dup (p.Gln604ThrfsTer4)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117592218_117592219dupCA913190194CFTRc.2051_2052dup (p.Gln685AsnfsTer?)
c.*1765_*1766dup (n.*1765_*1766dup)
c.1868_1869dup (p.Gln624AsnfsTer?)
c.*351_*352dup (n.*351_*352dup)
c.*1875_*1876dup (n.*1875_*1876dup)
c.1625_1626dup (p.Gln543AsnfsTer?)
c.1402-10608_1402-10607dup (n.1402-10608_1402-10607dup)
c.1961_1962dup (p.Gln655AsnfsTer?)
c.2141_2142dup (p.Gln715AsnfsTer?)
c.1808_1809dup (p.Gln604AsnfsTer?)
 ClinVar dbSNP
7g.117592219delCA344706CFTRc.2052del (p.Lys684AsnfsTer?)
c.*1766del (n.*1766del)
c.1869del (p.Lys623AsnfsTer?)
c.*352del (n.*352del)
c.*1876del (n.*1876del)
c.1626del (p.Lys542AsnfsTer?)
c.1402-10607del (n.1402-10607del)
c.1962del (p.Lys654AsnfsTer?)
c.2142del (p.Lys714AsnfsTer?)
c.1809del (p.Lys603AsnfsTer?)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117592218_117592219delCA326739CFTRc.2051_2052del (p.Lys684ThrfsTer4)
c.*1765_*1766del (n.*1765_*1766del)
c.1868_1869del (p.Lys623ThrfsTer4)
c.*351_*352del (n.*351_*352del)
c.*1875_*1876del (n.*1875_*1876del)
c.1625_1626del (p.Lys542ThrfsTer4)
c.1402-10608_1402-10607del (n.1402-10608_1402-10607del)
c.1961_1962del (p.Lys654ThrfsTer4)
c.2141_2142del (p.Lys714ThrfsTer4)
c.1808_1809del (p.Lys603ThrfsTer4)
 ClinVar dbSNP
7g.117592216_117592219delCA2573052803CFTRc.2049_2052del (p.Lys683AsnfsTer?)
c.*1763_*1766del (n.*1763_*1766del)
c.1866_1869del (p.Lys622AsnfsTer?)
c.*349_*352del (n.*349_*352del)
c.*1873_*1876del (n.*1873_*1876del)
c.1623_1626del (p.Lys541AsnfsTer?)
c.1402-10610_1402-10607del (n.1402-10610_1402-10607del)
c.1959_1962del (p.Lys653AsnfsTer?)
c.2139_2142del (p.Lys713AsnfsTer?)
c.1806_1809del (p.Lys602AsnfsTer?)
 ClinVar dbSNP
7g.117592214A>CCA368979407CFTRc.2047A>C (p.Lys683Gln)
c.*1761A>C (n.*1761A>C)
c.1864A>C (p.Lys622Gln)
c.*347A>C (n.*347A>C)
c.*1871A>C (n.*1871A>C)
c.1621A>C (p.Lys541Gln)
c.1402-10612A>C (n.1402-10612A>C)
c.1957A>C (p.Lys653Gln)
c.2137A>C (p.Lys713Gln)
c.1804A>C (p.Lys602Gln)
7g.117592214A>GCA368979409CFTRc.2047A>G (p.Lys683Glu)
c.*1761A>G (n.*1761A>G)
c.1864A>G (p.Lys622Glu)
c.*347A>G (n.*347A>G)
c.*1871A>G (n.*1871A>G)
c.1621A>G (p.Lys541Glu)
c.1402-10612A>G (n.1402-10612A>G)
c.1957A>G (p.Lys653Glu)
c.2137A>G (p.Lys713Glu)
c.1804A>G (p.Lys602Glu)
7g.117592214A>TCA368979411CFTRc.2047A>T (p.Lys683Ter)
c.*1761A>T (n.*1761A>T)
c.1864A>T (p.Lys622Ter)
c.*347A>T (n.*347A>T)
c.*1871A>T (n.*1871A>T)
c.1621A>T (p.Lys541Ter)
c.1402-10612A>T (n.1402-10612A>T)
c.1957A>T (p.Lys653Ter)
c.2137A>T (p.Lys713Ter)
c.1804A>T (p.Lys602Ter)
7g.117592215A=CA1737394598CFTRc.2048A= (p.Lys683=)
c.*1762A= (n.*1762A=)
c.1865A= (p.Lys622=)
c.*348A= (n.*348A=)
c.*1872A= (n.*1872A=)
c.1622A= (p.Lys541=)
c.1402-10611A= (n.1402-10611A=)
c.1958A= (p.Lys653=)
c.2138A= (p.Lys713=)
c.1805A= (p.Lys602=)
7g.117592215A>CCA368979414CFTRc.2048A>C (p.Lys683Thr)
c.*1762A>C (n.*1762A>C)
c.1865A>C (p.Lys622Thr)
c.*348A>C (n.*348A>C)
c.*1872A>C (n.*1872A>C)
c.1622A>C (p.Lys541Thr)
c.1402-10611A>C (n.1402-10611A>C)
c.1958A>C (p.Lys653Thr)
c.2138A>C (p.Lys713Thr)
c.1805A>C (p.Lys602Thr)
7g.117592215A>GCA164947738CFTRc.2048A>G (p.Lys683Arg)
c.*1762A>G (n.*1762A>G)
c.1865A>G (p.Lys622Arg)
c.*348A>G (n.*348A>G)
c.*1872A>G (n.*1872A>G)
c.1622A>G (p.Lys541Arg)
c.1402-10611A>G (n.1402-10611A>G)
c.1958A>G (p.Lys653Arg)
c.2138A>G (p.Lys713Arg)
c.1805A>G (p.Lys602Arg)
 dbSNP gnomAD v3
7g.117592215A>TCA368979417CFTRc.2048A>T (p.Lys683Ile)
c.*1762A>T (n.*1762A>T)
c.1865A>T (p.Lys622Ile)
c.*348A>T (n.*348A>T)
c.*1872A>T (n.*1872A>T)
c.1622A>T (p.Lys541Ile)
c.1402-10611A>T (n.1402-10611A>T)
c.1958A>T (p.Lys653Ile)
c.2138A>T (p.Lys713Ile)
c.1805A>T (p.Lys602Ile)
7g.117592216A>CCA368979421CFTRc.2049A>C (p.Lys683Asn)
c.*1763A>C (n.*1763A>C)
c.1866A>C (p.Lys622Asn)
c.*349A>C (n.*349A>C)
c.*1873A>C (n.*1873A>C)
c.1623A>C (p.Lys541Asn)
c.1402-10610A>C (n.1402-10610A>C)
c.1959A>C (p.Lys653Asn)
c.2139A>C (p.Lys713Asn)
c.1806A>C (p.Lys602Asn)
7g.117592216A>GCA457449021CFTRc.2049A>G (p.Lys683=)
c.*1763A>G (n.*1763A>G)
c.1866A>G (p.Lys622=)
c.*349A>G (n.*349A>G)
c.*1873A>G (n.*1873A>G)
c.1623A>G (p.Lys541=)
c.1402-10610A>G (n.1402-10610A>G)
c.1959A>G (p.Lys653=)
c.2139A>G (p.Lys713=)
c.1806A>G (p.Lys602=)
7g.117592216A>TCA368979423CFTRc.2049A>T (p.Lys683Asn)
c.*1763A>T (n.*1763A>T)
c.1866A>T (p.Lys622Asn)
c.*349A>T (n.*349A>T)
c.*1873A>T (n.*1873A>T)
c.1623A>T (p.Lys541Asn)
c.1402-10610A>T (n.1402-10610A>T)
c.1959A>T (p.Lys653Asn)
c.2139A>T (p.Lys713Asn)
c.1806A>T (p.Lys602Asn)
7g.117592216_117592220delinsAAAACCA1737394602CFTRc.2049_2053delinsAAAAC (p.Lys683=)
c.*1763_*1767delinsAAAAC (n.*1763_*1767delinsAAAAC)
c.1866_1870delinsAAAAC (p.Lys622=)
c.*349_*353delinsAAAAC (n.*349_*353delinsAAAAC)
c.*1873_*1877delinsAAAAC (n.*1873_*1877delinsAAAAC)
c.1623_1627delinsAAAAC (p.Lys541=)
c.1402-10610_1402-10606delinsAAAAC (n.1402-10610_1402-10606delinsAAAAC)
c.1959_1963delinsAAAAC (p.Lys653=)
c.2139_2143delinsAAAAC (p.Lys713=)
c.1806_1810delinsAAAAC (p.Lys602=)
7g.117592217A>CCA368979433CFTRc.2050A>C (p.Lys684Gln)
c.*1764A>C (n.*1764A>C)
c.1867A>C (p.Lys623Gln)
c.*350A>C (n.*350A>C)
c.*1874A>C (n.*1874A>C)
c.1624A>C (p.Lys542Gln)
c.1402-10609A>C (n.1402-10609A>C)
c.1960A>C (p.Lys654Gln)
c.2140A>C (p.Lys714Gln)
c.1807A>C (p.Lys603Gln)
7g.117592217A>GCA368979432CFTRc.2050A>G (p.Lys684Glu)
c.*1764A>G (n.*1764A>G)
c.1867A>G (p.Lys623Glu)
c.*350A>G (n.*350A>G)
c.*1874A>G (n.*1874A>G)
c.1624A>G (p.Lys542Glu)
c.1402-10609A>G (n.1402-10609A>G)
c.1960A>G (p.Lys654Glu)
c.2140A>G (p.Lys714Glu)
c.1807A>G (p.Lys603Glu)
7g.117592217A>TCA368979427CFTRc.2050A>T (p.Lys684Ter)
c.*1764A>T (n.*1764A>T)
c.1867A>T (p.Lys623Ter)
c.*350A>T (n.*350A>T)
c.*1874A>T (n.*1874A>T)
c.1624A>T (p.Lys542Ter)
c.1402-10609A>T (n.1402-10609A>T)
c.1960A>T (p.Lys654Ter)
c.2140A>T (p.Lys714Ter)
c.1807A>T (p.Lys603Ter)
7g.117592217_117592219delinsAAACA1737394609CFTRc.2050_2052delinsAAA (p.Lys684=)
c.*1764_*1766delinsAAA (n.*1764_*1766delinsAAA)
c.1867_1869delinsAAA (p.Lys623=)
c.*350_*352delinsAAA (n.*350_*352delinsAAA)
c.*1874_*1876delinsAAA (n.*1874_*1876delinsAAA)
c.1624_1626delinsAAA (p.Lys542=)
c.1402-10609_1402-10607delinsAAA (n.1402-10609_1402-10607delinsAAA)
c.1960_1962delinsAAA (p.Lys654=)
c.2140_2142delinsAAA (p.Lys714=)
c.1807_1809delinsAAA (p.Lys603=)
7g.117592217_117592220delinsAAACCA1737394607CFTRc.2050_2053delinsAAAC (p.Lys684=)
c.*1764_*1767delinsAAAC (n.*1764_*1767delinsAAAC)
c.1867_1870delinsAAAC (p.Lys623=)
c.*350_*353delinsAAAC (n.*350_*353delinsAAAC)
c.*1874_*1877delinsAAAC (n.*1874_*1877delinsAAAC)
c.1624_1627delinsAAAC (p.Lys542=)
c.1402-10609_1402-10606delinsAAAC (n.1402-10609_1402-10606delinsAAAC)
c.1960_1963delinsAAAC (p.Lys654=)
c.2140_2143delinsAAAC (p.Lys714=)
c.1807_1810delinsAAAC (p.Lys603=)
7g.117592219_117592222delCA368979429CFTRc.2052_2055del (p.Lys684AsnfsTer?)
c.*1766_*1769del (n.*1766_*1769del)
c.1869_1872del (p.Lys623AsnfsTer?)
c.*352_*355del (n.*352_*355del)
c.*1876_*1879del (n.*1876_*1879del)
c.1626_1629del (p.Lys542AsnfsTer?)
c.1402-10607_1402-10604del (n.1402-10607_1402-10604del)
c.1962_1965del (p.Lys654AsnfsTer?)
c.2142_2145del (p.Lys714AsnfsTer?)
c.1809_1812del (p.Lys603AsnfsTer?)
 dbSNP
7g.117592218A=CA1737394622CFTRc.2051A= (p.Lys684=)
c.*1765A= (n.*1765A=)
c.1868A= (p.Lys623=)
c.*351A= (n.*351A=)
c.*1875A= (n.*1875A=)
c.1625A= (p.Lys542=)
c.1402-10608A= (n.1402-10608A=)
c.1961A= (p.Lys654=)
c.2141A= (p.Lys714=)
c.1808A= (p.Lys603=)
7g.117592218A>CCA368979438CFTRc.2051A>C (p.Lys684Thr)
c.*1765A>C (n.*1765A>C)
c.1868A>C (p.Lys623Thr)
c.*351A>C (n.*351A>C)
c.*1875A>C (n.*1875A>C)
c.1625A>C (p.Lys542Thr)
c.1402-10608A>C (n.1402-10608A>C)
c.1961A>C (p.Lys654Thr)
c.2141A>C (p.Lys714Thr)
c.1808A>C (p.Lys603Thr)
 dbSNP gnomAD v2 gnomAD v4
7g.117592218A>GCA164947746CFTRc.2051A>G (p.Lys684Arg)
c.*1765A>G (n.*1765A>G)
c.1868A>G (p.Lys623Arg)
c.*351A>G (n.*351A>G)
c.*1875A>G (n.*1875A>G)
c.1625A>G (p.Lys542Arg)
c.1402-10608A>G (n.1402-10608A>G)
c.1961A>G (p.Lys654Arg)
c.2141A>G (p.Lys714Arg)
c.1808A>G (p.Lys603Arg)
 dbSNP
7g.117592218A>TCA368979436CFTRc.2051A>T (p.Lys684Ile)
c.*1765A>T (n.*1765A>T)
c.1868A>T (p.Lys623Ile)
c.*351A>T (n.*351A>T)
c.*1875A>T (n.*1875A>T)
c.1625A>T (p.Lys542Ile)
c.1402-10608A>T (n.1402-10608A>T)
c.1961A>T (p.Lys654Ile)
c.2141A>T (p.Lys714Ile)
c.1808A>T (p.Lys603Ile)
7g.117592218_117592219delinsGCA325699CFTRc.2051_2052delinsG (p.Lys684SerfsTer?)
c.*1765_*1766delinsG (n.*1765_*1766delinsG)
c.1868_1869delinsG (p.Lys623SerfsTer?)
c.*351_*352delinsG (n.*351_*352delinsG)
c.*1875_*1876delinsG (n.*1875_*1876delinsG)
c.1625_1626delinsG (p.Lys542SerfsTer?)
c.1402-10608_1402-10607delinsG (n.1402-10608_1402-10607delinsG)
c.1961_1962delinsG (p.Lys654SerfsTer?)
c.2141_2142delinsG (p.Lys714SerfsTer?)
c.1808_1809delinsG (p.Lys603SerfsTer?)
 ClinVar dbSNP
7g.117592220_117592222delCA577680764CFTRc.2053_2055del (p.Gln685del)
c.*1767_*1769del (n.*1767_*1769del)
c.1870_1872del (p.Gln624del)
c.*353_*355del (n.*353_*355del)
c.*1877_*1879del (n.*1877_*1879del)
c.1627_1629del (p.Gln543del)
c.1402-10606_1402-10604del (n.1402-10606_1402-10604del)
c.1963_1965del (p.Gln655del)
c.2143_2145del (p.Gln715del)
c.1810_1812del (p.Gln604del)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.117592218_117592219insGCA923726134CFTRc.2051_2052insG (p.Gln685ThrfsTer4)
c.*1765_*1766insG (n.*1765_*1766insG)
c.1868_1869insG (p.Gln624ThrfsTer4)
c.*351_*352insG (n.*351_*352insG)
c.*1875_*1876insG (n.*1875_*1876insG)
c.1625_1626insG (p.Gln543ThrfsTer4)
c.1402-10608_1402-10607insG (n.1402-10608_1402-10607insG)
c.1961_1962insG (p.Gln655ThrfsTer4)
c.2141_2142insG (p.Gln715ThrfsTer4)
c.1808_1809insG (p.Gln604ThrfsTer4)
7g.117592219A=CA1737394631CFTRc.2052A= (p.Lys684=)
c.*1766A= (n.*1766A=)
c.1869A= (p.Lys623=)
c.*352A= (n.*352A=)
c.*1876A= (n.*1876A=)
c.1626A= (p.Lys542=)
c.1402-10607A= (n.1402-10607A=)
c.1962A= (p.Lys654=)
c.2142A= (p.Lys714=)
c.1809A= (p.Lys603=)
7g.117592219A>CCA368979443CFTRc.2052A>C (p.Lys684Asn)
c.*1766A>C (n.*1766A>C)
c.1869A>C (p.Lys623Asn)
c.*352A>C (n.*352A>C)
c.*1876A>C (n.*1876A>C)
c.1626A>C (p.Lys542Asn)
c.1402-10607A>C (n.1402-10607A>C)
c.1962A>C (p.Lys654Asn)
c.2142A>C (p.Lys714Asn)
c.1809A>C (p.Lys603Asn)
 ClinVar dbSNP
7g.117592219A>GCA4451134CFTRc.2052A>G (p.Lys684=)
c.*1766A>G (n.*1766A>G)
c.1869A>G (p.Lys623=)
c.*352A>G (n.*352A>G)
c.*1876A>G (n.*1876A>G)
c.1626A>G (p.Lys542=)
c.1402-10607A>G (n.1402-10607A>G)
c.1962A>G (p.Lys654=)
c.2142A>G (p.Lys714=)
c.1809A>G (p.Lys603=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117592219A>TCA368979447CFTRc.2052A>T (p.Lys684Asn)
c.*1766A>T (n.*1766A>T)
c.1869A>T (p.Lys623Asn)
c.*352A>T (n.*352A>T)
c.*1876A>T (n.*1876A>T)
c.1626A>T (p.Lys542Asn)
c.1402-10607A>T (n.1402-10607A>T)
c.1962A>T (p.Lys654Asn)
c.2142A>T (p.Lys714Asn)
c.1809A>T (p.Lys603Asn)
 ClinVar dbSNP gnomAD v4
7g.117592220C>ACA368979449CFTRc.2053C>A (p.Gln685Lys)
c.*1767C>A (n.*1767C>A)
c.1870C>A (p.Gln624Lys)
c.*353C>A (n.*353C>A)
c.*1877C>A (n.*1877C>A)
c.1627C>A (p.Gln543Lys)
c.1402-10606C>A (n.1402-10606C>A)
c.1963C>A (p.Gln655Lys)
c.2143C>A (p.Gln715Lys)
c.1810C>A (p.Gln604Lys)
 COSMIC
7g.117592220C=CA1737394648CFTRc.2053C= (p.Gln685=)
c.*1767C= (n.*1767C=)
c.1870C= (p.Gln624=)
c.*353C= (n.*353C=)
c.*1877C= (n.*1877C=)
c.1627C= (p.Gln543=)
c.1402-10606C= (n.1402-10606C=)
c.1963C= (p.Gln655=)
c.2143C= (p.Gln715=)
c.1810C= (p.Gln604=)
7g.117592220C>GCA368979451CFTRc.2053C>G (p.Gln685Glu)
c.*1767C>G (n.*1767C>G)
c.1870C>G (p.Gln624Glu)
c.*353C>G (n.*353C>G)
c.*1877C>G (n.*1877C>G)
c.1627C>G (p.Gln543Glu)
c.1402-10606C>G (n.1402-10606C>G)
c.1963C>G (p.Gln655Glu)
c.2143C>G (p.Gln715Glu)
c.1810C>G (p.Gln604Glu)
7g.117592220C>TCA326740CFTRc.2053C>T (p.Gln685Ter)
c.*1767C>T (n.*1767C>T)
c.1870C>T (p.Gln624Ter)
c.*353C>T (n.*353C>T)
c.*1877C>T (n.*1877C>T)
c.1627C>T (p.Gln543Ter)
c.1402-10606C>T (n.1402-10606C>T)
c.1963C>T (p.Gln655Ter)
c.2143C>T (p.Gln715Ter)
c.1810C>T (p.Gln604Ter)
 ClinVar dbSNP
7g.117592220dupCA276116CFTRc.2053dup (p.Gln685ProfsTer4)
c.*1767dup (n.*1767dup)
c.1870dup (p.Gln624ProfsTer4)
c.*353dup (n.*353dup)
c.*1877dup (n.*1877dup)
c.1627dup (p.Gln543ProfsTer4)
c.1402-10606dup (n.1402-10606dup)
c.1963dup (p.Gln655ProfsTer4)
c.2143dup (p.Gln715ProfsTer4)
c.1810dup (p.Gln604ProfsTer4)
 ClinVar dbSNP
7g.117592221A>CCA368979455CFTRc.2054A>C (p.Gln685Pro)
c.*1768A>C (n.*1768A>C)
c.1871A>C (p.Gln624Pro)
c.*354A>C (n.*354A>C)
c.*1878A>C (n.*1878A>C)
c.1628A>C (p.Gln543Pro)
c.1402-10605A>C (n.1402-10605A>C)
c.1964A>C (p.Gln655Pro)
c.2144A>C (p.Gln715Pro)
c.1811A>C (p.Gln604Pro)
 ClinVar
7g.117592221A>GCA368979456CFTRc.2054A>G (p.Gln685Arg)
c.*1768A>G (n.*1768A>G)
c.1871A>G (p.Gln624Arg)
c.*354A>G (n.*354A>G)
c.*1878A>G (n.*1878A>G)
c.1628A>G (p.Gln543Arg)
c.1402-10605A>G (n.1402-10605A>G)
c.1964A>G (p.Gln655Arg)
c.2144A>G (p.Gln715Arg)
c.1811A>G (p.Gln604Arg)
7g.117592221A>TCA368979458CFTRc.2054A>T (p.Gln685Leu)
c.*1768A>T (n.*1768A>T)
c.1871A>T (p.Gln624Leu)
c.*354A>T (n.*354A>T)
c.*1878A>T (n.*1878A>T)
c.1628A>T (p.Gln543Leu)
c.1402-10605A>T (n.1402-10605A>T)
c.1964A>T (p.Gln655Leu)
c.2144A>T (p.Gln715Leu)
c.1811A>T (p.Gln604Leu)
7g.117592222A=CA1737394657CFTRc.2055A= (p.Gln685=)
c.*1769A= (n.*1769A=)
c.1872A= (p.Gln624=)
c.*355A= (n.*355A=)
c.*1879A= (n.*1879A=)
c.1629A= (p.Gln543=)
c.1402-10604A= (n.1402-10604A=)
c.1965A= (p.Gln655=)
c.2145A= (p.Gln715=)
c.1812A= (p.Gln604=)
7g.117592222A>CCA368979462CFTRc.2055A>C (p.Gln685His)
c.*1769A>C (n.*1769A>C)
c.1872A>C (p.Gln624His)
c.*355A>C (n.*355A>C)
c.*1879A>C (n.*1879A>C)
c.1629A>C (p.Gln543His)
c.1402-10604A>C (n.1402-10604A>C)
c.1965A>C (p.Gln655His)
c.2145A>C (p.Gln715His)
c.1812A>C (p.Gln604His)
7g.117592222A>GCA457449022CFTRc.2055A>G (p.Gln685=)
c.*1769A>G (n.*1769A>G)
c.1872A>G (p.Gln624=)
c.*355A>G (n.*355A>G)
c.*1879A>G (n.*1879A>G)
c.1629A>G (p.Gln543=)
c.1402-10604A>G (n.1402-10604A>G)
c.1965A>G (p.Gln655=)
c.2145A>G (p.Gln715=)
c.1812A>G (p.Gln604=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.117592222A>TCA368979464CFTRc.2055A>T (p.Gln685His)
c.*1769A>T (n.*1769A>T)
c.1872A>T (p.Gln624His)
c.*355A>T (n.*355A>T)
c.*1879A>T (n.*1879A>T)
c.1629A>T (p.Gln543His)
c.1402-10604A>T (n.1402-10604A>T)
c.1965A>T (p.Gln655His)
c.2145A>T (p.Gln715His)
c.1812A>T (p.Gln604His)
7g.117592223T>ACA368979467CFTRc.2056T>A (p.Ser686Thr)
c.*1770T>A (n.*1770T>A)
c.1873T>A (p.Ser625Thr)
c.*356T>A (n.*356T>A)
c.*1880T>A (n.*1880T>A)
c.1630T>A (p.Ser544Thr)
c.1402-10603T>A (n.1402-10603T>A)
c.1966T>A (p.Ser656Thr)
c.2146T>A (p.Ser716Thr)
c.1813T>A (p.Ser605Thr)
 dbSNP gnomAD v2 gnomAD v4
7g.117592223T>CCA368979469CFTRc.2056T>C (p.Ser686Pro)
c.*1770T>C (n.*1770T>C)
c.1873T>C (p.Ser625Pro)
c.*356T>C (n.*356T>C)
c.*1880T>C (n.*1880T>C)
c.1630T>C (p.Ser544Pro)
c.1402-10603T>C (n.1402-10603T>C)
c.1966T>C (p.Ser656Pro)
c.2146T>C (p.Ser716Pro)
c.1813T>C (p.Ser605Pro)
7g.117592223T>GCA368979471CFTRc.2056T>G (p.Ser686Ala)
c.*1770T>G (n.*1770T>G)
c.1873T>G (p.Ser625Ala)
c.*356T>G (n.*356T>G)
c.*1880T>G (n.*1880T>G)
c.1630T>G (p.Ser544Ala)
c.1402-10603T>G (n.1402-10603T>G)
c.1966T>G (p.Ser656Ala)
c.2146T>G (p.Ser716Ala)
c.1813T>G (p.Ser605Ala)
7g.117592223T=CA1737394663CFTRc.2056T= (p.Ser686=)
c.*1770T= (n.*1770T=)
c.1873T= (p.Ser625=)
c.*356T= (n.*356T=)
c.*1880T= (n.*1880T=)
c.1630T= (p.Ser544=)
c.1402-10603T= (n.1402-10603T=)
c.1966T= (p.Ser656=)
c.2146T= (p.Ser716=)
c.1813T= (p.Ser605=)
7g.117592224delCA2684619357CFTRc.2057del (p.Ser686PhefsTer?)
c.*1771del (n.*1771del)
c.1874del (p.Ser625PhefsTer?)
c.*357del (n.*357del)
c.*1881del (n.*1881del)
c.1631del (p.Ser544PhefsTer?)
c.1402-10602del (n.1402-10602del)
c.1967del (p.Ser656PhefsTer?)
c.2147del (p.Ser716PhefsTer?)
c.1814del (p.Ser605PhefsTer?)
 gnomAD v4
7g.117592224C>ACA4451135CFTRc.2057C>A (p.Ser686Tyr)
c.*1771C>A (n.*1771C>A)
c.1874C>A (p.Ser625Tyr)
c.*357C>A (n.*357C>A)
c.*1881C>A (n.*1881C>A)
c.1631C>A (p.Ser544Tyr)
c.1402-10602C>A (n.1402-10602C>A)
c.1967C>A (p.Ser656Tyr)
c.2147C>A (p.Ser716Tyr)
c.1814C>A (p.Ser605Tyr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117592224C=CA1737394669CFTRc.2057C= (p.Ser686=)
c.*1771C= (n.*1771C=)
c.1874C= (p.Ser625=)
c.*357C= (n.*357C=)
c.*1881C= (n.*1881C=)
c.1631C= (p.Ser544=)
c.1402-10602C= (n.1402-10602C=)
c.1967C= (p.Ser656=)
c.2147C= (p.Ser716=)
c.1814C= (p.Ser605=)
7g.117592224C>GCA368979475CFTRc.2057C>G (p.Ser686Cys)
c.*1771C>G (n.*1771C>G)
c.1874C>G (p.Ser625Cys)
c.*357C>G (n.*357C>G)
c.*1881C>G (n.*1881C>G)
c.1631C>G (p.Ser544Cys)
c.1402-10602C>G (n.1402-10602C>G)
c.1967C>G (p.Ser656Cys)
c.2147C>G (p.Ser716Cys)
c.1814C>G (p.Ser605Cys)
7g.117592224C>TCA368979476CFTRc.2057C>T (p.Ser686Phe)
c.*1771C>T (n.*1771C>T)
c.1874C>T (p.Ser625Phe)
c.*357C>T (n.*357C>T)
c.*1881C>T (n.*1881C>T)
c.1631C>T (p.Ser544Phe)
c.1402-10602C>T (n.1402-10602C>T)
c.1967C>T (p.Ser656Phe)
c.2147C>T (p.Ser716Phe)
c.1814C>T (p.Ser605Phe)
7g.117592224_117592225delinsACA2695208507CFTRc.2057_2058delinsA (p.Ser686TyrfsTer?)
c.*1771_*1772delinsA (n.*1771_*1772delinsA)
c.1874_1875delinsA (p.Ser625TyrfsTer?)
c.*357_*358delinsA (n.*357_*358delinsA)
c.*1881_*1882delinsA (n.*1881_*1882delinsA)
c.1631_1632delinsA (p.Ser544TyrfsTer?)
c.1402-10602_1402-10601delinsA (n.1402-10602_1402-10601delinsA)
c.1967_1968delinsA (p.Ser656TyrfsTer?)
c.2147_2148delinsA (p.Ser716TyrfsTer?)
c.1814_1815delinsA (p.Ser605TyrfsTer?)
7g.117592224_117592225delinsCTCA1737394673CFTRc.2057_2058delinsCT (p.Ser686=)
c.*1771_*1772delinsCT (n.*1771_*1772delinsCT)
c.1874_1875delinsCT (p.Ser625=)
c.*357_*358delinsCT (n.*357_*358delinsCT)
c.*1881_*1882delinsCT (n.*1881_*1882delinsCT)
c.1631_1632delinsCT (p.Ser544=)
c.1402-10602_1402-10601delinsCT (n.1402-10602_1402-10601delinsCT)
c.1967_1968delinsCT (p.Ser656=)
c.2147_2148delinsCT (p.Ser716=)
c.1814_1815delinsCT (p.Ser605=)

Number of alleles fetched