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.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.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)

Number of alleles fetched