Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.117591251_117595608delinsCTACATTTGTACTA | CA2580076490 | CFTR | c.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 |
7 | g.117592125T>A | CA368979002 | CFTR | c.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) | |
7 | g.117592125T>C | CA368979004 | CFTR | c.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) | |
7 | g.117592125T>G | CA368979005 | CFTR | c.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) | |
7 | g.117592126T>A | CA368979006 | CFTR | c.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) | |
7 | g.117592126T>C | CA457448905 | CFTR | c.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=) | |
7 | g.117592126T>G | CA368979007 | CFTR | c.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) | |
7 | g.117592127A= | CA1737394315 | CFTR | c.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=) | |
7 | g.117592127A>C | CA368979008 | CFTR | c.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) | |
7 | g.117592127A>G | CA164947637 | CFTR | c.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 |
7 | g.117592127A>T | CA368979009 | CFTR | c.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 |
7 | g.117592128G>A | CA368979010 | CFTR | c.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) | |
7 | g.117592128G>C | CA368979013 | CFTR | c.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) | |
7 | g.117592128G>T | CA368979011 | CFTR | c.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) | |
7 | g.117592129T>A | CA368979017 | CFTR | c.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) | |
7 | g.117592129T>C | CA457448906 | CFTR | c.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 |
7 | g.117592129T>G | CA368979019 | CFTR | c.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 |
7 | g.117592129T= | CA1737394320 | CFTR | c.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=) | |
7 | g.117592130G>A | CA368979021 | CFTR | c.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 |
7 | g.117592130G>C | CA368979022 | CFTR | c.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) | |
7 | g.117592130G>T | CA368979023 | CFTR | c.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) | |
7 | g.117592131C>A | CA368979026 | CFTR | c.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) | |
7 | g.117592131C>G | CA368979028 | CFTR | c.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) | |
7 | g.117592131C>T | CA368979031 | CFTR | c.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 |
7 | g.117592132A>C | CA457448909 | CFTR | c.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=) | |
7 | g.117592132A>G | CA457448907 | CFTR | c.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=) | |
7 | g.117592132A>T | CA457448908 | CFTR | c.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=) | |
7 | g.117592133G>A | CA368979033 | CFTR | c.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) | |
7 | g.117592133G>C | CA368979035 | CFTR | c.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 |
7 | g.117592133G= | CA1737394326 | CFTR | c.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=) | |
7 | g.117592133G>T | CA326719 | CFTR | c.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 |
7 | g.117592134A= | CA1737394333 | CFTR | c.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=) | |
7 | g.117592134A>C | CA368979042 | CFTR | c.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) | |
7 | g.117592134A>G | CA368979040 | CFTR | c.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 |
7 | g.117592134A>T | CA368979038 | CFTR | c.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) | |
7 | g.117592135A>C | CA368979045 | CFTR | c.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) | |
7 | g.117592135A>G | CA457448910 | CFTR | c.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=) | |
7 | g.117592135A>T | CA368979047 | CFTR | c.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) | |
7 | g.117592136A= | CA1737394336 | CFTR | c.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=) | |
7 | g.117592136A>C | CA457448911 | CFTR | c.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=) | |
7 | g.117592136A>G | CA368979050 | CFTR | c.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 |
7 | g.117592136A>T | CA368979052 | CFTR | c.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 |
7 | g.117592137del | CA457448912 | CFTR | c.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 |
7 | g.117592137G>A | CA368979054 | CFTR | c.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 |
7 | g.117592137G>C | CA368979058 | CFTR | c.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) | |
7 | g.117592137G>T | CA368979060 | CFTR | c.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 |
7 | g.117592138A>C | CA368979063 | CFTR | c.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) | |
7 | g.117592138A>G | CA457448913 | CFTR | c.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=) | |
7 | g.117592138A>T | CA368979064 | CFTR | c.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) | |
7 | g.117592139dup | CA2684619355 | CFTR | c.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 |