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_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.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.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=)
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=)

Number of alleles fetched