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.117591966G>ACA368977936CFTRc.1799G>A (p.Arg600Lys)
c.*1513G>A (n.*1513G>A)
c.1616G>A (p.Arg539Lys)
c.*99G>A (n.*99G>A)
c.*1623G>A (n.*1623G>A)
c.1373G>A (p.Arg458Lys)
c.1402-10860G>A (n.1402-10860G>A)
c.1709G>A (p.Arg570Lys)
c.1889G>A (p.Arg630Lys)
c.1556G>A (p.Arg519Lys)
7g.117591966G>CCA368977939CFTRc.1799G>C (p.Arg600Thr)
c.*1513G>C (n.*1513G>C)
c.1616G>C (p.Arg539Thr)
c.*99G>C (n.*99G>C)
c.*1623G>C (n.*1623G>C)
c.1373G>C (p.Arg458Thr)
c.1402-10860G>C (n.1402-10860G>C)
c.1709G>C (p.Arg570Thr)
c.1889G>C (p.Arg630Thr)
c.1556G>C (p.Arg519Thr)
7g.117591966G>TCA368977943CFTRc.1799G>T (p.Arg600Met)
c.*1513G>T (n.*1513G>T)
c.1616G>T (p.Arg539Met)
c.*99G>T (n.*99G>T)
c.*1623G>T (n.*1623G>T)
c.1373G>T (p.Arg458Met)
c.1402-10860G>T (n.1402-10860G>T)
c.1709G>T (p.Arg570Met)
c.1889G>T (p.Arg630Met)
c.1556G>T (p.Arg519Met)
7g.117591967delCA2695208502CFTRc.1800del (p.Ile601PhefsTer10)
c.*1514del (n.*1514del)
c.1617del (p.Ile540PhefsTer10)
c.*100del (n.*100del)
c.*1624del (n.*1624del)
c.1374del (p.Ile459PhefsTer10)
c.1402-10859del (n.1402-10859del)
c.1710del (p.Ile571PhefsTer10)
c.1890del (p.Ile631PhefsTer10)
c.1557del (p.Ile520PhefsTer10)
7g.117591967G>ACA457448823CFTRc.1800G>A (p.Arg600=)
c.*1514G>A (n.*1514G>A)
c.1617G>A (p.Arg539=)
c.*100G>A (n.*100G>A)
c.*1624G>A (n.*1624G>A)
c.1374G>A (p.Arg458=)
c.1402-10859G>A (n.1402-10859G>A)
c.1710G>A (p.Arg570=)
c.1890G>A (p.Arg630=)
c.1557G>A (p.Arg519=)
 COSMIC
7g.117591967G>CCA368977947CFTRc.1800G>C (p.Arg600Ser)
c.*1514G>C (n.*1514G>C)
c.1617G>C (p.Arg539Ser)
c.*100G>C (n.*100G>C)
c.*1624G>C (n.*1624G>C)
c.1374G>C (p.Arg458Ser)
c.1402-10859G>C (n.1402-10859G>C)
c.1710G>C (p.Arg570Ser)
c.1890G>C (p.Arg630Ser)
c.1557G>C (p.Arg519Ser)
7g.117591967G>TCA368977948CFTRc.1800G>T (p.Arg600Ser)
c.*1514G>T (n.*1514G>T)
c.1617G>T (p.Arg539Ser)
c.*100G>T (n.*100G>T)
c.*1624G>T (n.*1624G>T)
c.1374G>T (p.Arg458Ser)
c.1402-10859G>T (n.1402-10859G>T)
c.1710G>T (p.Arg570Ser)
c.1890G>T (p.Arg630Ser)
c.1557G>T (p.Arg519Ser)
7g.117591967_117591968delinsGACA1737393856CFTRc.1800_1801delinsGA (p.Arg600=)
c.*1514_*1515delinsGA (n.*1514_*1515delinsGA)
c.1617_1618delinsGA (p.Arg539=)
c.*100_*101delinsGA (n.*100_*101delinsGA)
c.*1624_*1625delinsGA (n.*1624_*1625delinsGA)
c.1374_1375delinsGA (p.Arg458=)
c.1402-10859_1402-10858delinsGA (n.1402-10859_1402-10858delinsGA)
c.1710_1711delinsGA (p.Arg570=)
c.1890_1891delinsGA (p.Arg630=)
c.1557_1558delinsGA (p.Arg519=)
7g.117591968delCA1139660229CFTRc.1801del (p.Ile601PhefsTer10)
c.*1515del (n.*1515del)
c.1618del (p.Ile540PhefsTer10)
c.*101del (n.*101del)
c.*1625del (n.*1625del)
c.1375del (p.Ile459PhefsTer10)
c.1402-10858del (n.1402-10858del)
c.1711del (p.Ile571PhefsTer10)
c.1891del (p.Ile631PhefsTer10)
c.1558del (p.Ile520PhefsTer10)
 ClinVar dbSNP
7g.117591968A=CA1737393862CFTRc.1801A= (p.Ile601=)
c.*1515A= (n.*1515A=)
c.1618A= (p.Ile540=)
c.*101A= (n.*101A=)
c.*1625A= (n.*1625A=)
c.1375A= (p.Ile459=)
c.1402-10858A= (n.1402-10858A=)
c.1711A= (p.Ile571=)
c.1891A= (p.Ile631=)
c.1558A= (p.Ile520=)
7g.117591968A>CCA368977952CFTRc.1801A>C (p.Ile601Leu)
c.*1515A>C (n.*1515A>C)
c.1618A>C (p.Ile540Leu)
c.*101A>C (n.*101A>C)
c.*1625A>C (n.*1625A>C)
c.1375A>C (p.Ile459Leu)
c.1402-10858A>C (n.1402-10858A>C)
c.1711A>C (p.Ile571Leu)
c.1891A>C (p.Ile631Leu)
c.1558A>C (p.Ile520Leu)
7g.117591968A>GCA368977959CFTRc.1801A>G (p.Ile601Val)
c.*1515A>G (n.*1515A>G)
c.1618A>G (p.Ile540Val)
c.*101A>G (n.*101A>G)
c.*1625A>G (n.*1625A>G)
c.1375A>G (p.Ile459Val)
c.1402-10858A>G (n.1402-10858A>G)
c.1711A>G (p.Ile571Val)
c.1891A>G (p.Ile631Val)
c.1558A>G (p.Ile520Val)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.117591968A>TCA326681CFTRc.1801A>T (p.Ile601Phe)
c.*1515A>T (n.*1515A>T)
c.1618A>T (p.Ile540Phe)
c.*101A>T (n.*101A>T)
c.*1625A>T (n.*1625A>T)
c.1375A>T (p.Ile459Phe)
c.1402-10858A>T (n.1402-10858A>T)
c.1711A>T (p.Ile571Phe)
c.1891A>T (p.Ile631Phe)
c.1558A>T (p.Ile520Phe)
 ClinVar dbSNP ExAC gnomAD v3 gnomAD v4
7g.117591969T>ACA368977962CFTRc.1802T>A (p.Ile601Asn)
c.*1516T>A (n.*1516T>A)
c.1619T>A (p.Ile540Asn)
c.*102T>A (n.*102T>A)
c.*1626T>A (n.*1626T>A)
c.1376T>A (p.Ile459Asn)
c.1402-10857T>A (n.1402-10857T>A)
c.1712T>A (p.Ile571Asn)
c.1892T>A (p.Ile631Asn)
c.1559T>A (p.Ile520Asn)
7g.117591969T>CCA326682CFTRc.1802T>C (p.Ile601Thr)
c.*1516T>C (n.*1516T>C)
c.1619T>C (p.Ile540Thr)
c.*102T>C (n.*102T>C)
c.*1626T>C (n.*1626T>C)
c.1376T>C (p.Ile459Thr)
c.1402-10857T>C (n.1402-10857T>C)
c.1712T>C (p.Ile571Thr)
c.1892T>C (p.Ile631Thr)
c.1559T>C (p.Ile520Thr)
 ClinVar dbSNP gnomAD v4
7g.117591969T>GCA368977979CFTRc.1802T>G (p.Ile601Ser)
c.*1516T>G (n.*1516T>G)
c.1619T>G (p.Ile540Ser)
c.*102T>G (n.*102T>G)
c.*1626T>G (n.*1626T>G)
c.1376T>G (p.Ile459Ser)
c.1402-10857T>G (n.1402-10857T>G)
c.1712T>G (p.Ile571Ser)
c.1892T>G (p.Ile631Ser)
c.1559T>G (p.Ile520Ser)
7g.117591969T=CA1737393872CFTRc.1802T= (p.Ile601=)
c.*1516T= (n.*1516T=)
c.1619T= (p.Ile540=)
c.*102T= (n.*102T=)
c.*1626T= (n.*1626T=)
c.1376T= (p.Ile459=)
c.1402-10857T= (n.1402-10857T=)
c.1712T= (p.Ile571=)
c.1892T= (p.Ile631=)
c.1559T= (p.Ile520=)
7g.117591972delCA2684619353CFTRc.1805del (p.Leu602TrpfsTer9)
c.*1519del (n.*1519del)
c.1622del (p.Leu541TrpfsTer9)
c.*105del (n.*105del)
c.*1629del (n.*1629del)
c.1379del (p.Leu460TrpfsTer9)
c.1402-10854del (n.1402-10854del)
c.1715del (p.Leu572TrpfsTer9)
c.1895del (p.Leu632TrpfsTer9)
c.1562del (p.Leu521TrpfsTer9)
 gnomAD v4
7g.117591970T>ACA457448824CFTRc.1803T>A (p.Ile601=)
c.*1517T>A (n.*1517T>A)
c.1620T>A (p.Ile540=)
c.*103T>A (n.*103T>A)
c.*1627T>A (n.*1627T>A)
c.1377T>A (p.Ile459=)
c.1402-10856T>A (n.1402-10856T>A)
c.1713T>A (p.Ile571=)
c.1893T>A (p.Ile631=)
c.1560T>A (p.Ile520=)
7g.117591970T>CCA457448825CFTRc.1803T>C (p.Ile601=)
c.*1517T>C (n.*1517T>C)
c.1620T>C (p.Ile540=)
c.*103T>C (n.*103T>C)
c.*1627T>C (n.*1627T>C)
c.1377T>C (p.Ile459=)
c.1402-10856T>C (n.1402-10856T>C)
c.1713T>C (p.Ile571=)
c.1893T>C (p.Ile631=)
c.1560T>C (p.Ile520=)
7g.117591970T>GCA368977985CFTRc.1803T>G (p.Ile601Met)
c.*1517T>G (n.*1517T>G)
c.1620T>G (p.Ile540Met)
c.*103T>G (n.*103T>G)
c.*1627T>G (n.*1627T>G)
c.1377T>G (p.Ile459Met)
c.1402-10856T>G (n.1402-10856T>G)
c.1713T>G (p.Ile571Met)
c.1893T>G (p.Ile631Met)
c.1560T>G (p.Ile520Met)
7g.117591971T>ACA368977986CFTRc.1804T>A (p.Leu602Met)
c.*1518T>A (n.*1518T>A)
c.1621T>A (p.Leu541Met)
c.*104T>A (n.*104T>A)
c.*1628T>A (n.*1628T>A)
c.1378T>A (p.Leu460Met)
c.1402-10855T>A (n.1402-10855T>A)
c.1714T>A (p.Leu572Met)
c.1894T>A (p.Leu632Met)
c.1561T>A (p.Leu521Met)
7g.117591971T>CCA457448826CFTRc.1804T>C (p.Leu602=)
c.*1518T>C (n.*1518T>C)
c.1621T>C (p.Leu541=)
c.*104T>C (n.*104T>C)
c.*1628T>C (n.*1628T>C)
c.1378T>C (p.Leu460=)
c.1402-10855T>C (n.1402-10855T>C)
c.1714T>C (p.Leu572=)
c.1894T>C (p.Leu632=)
c.1561T>C (p.Leu521=)
 ClinVar dbSNP gnomAD v4
7g.117591971T>GCA368977987CFTRc.1804T>G (p.Leu602Val)
c.*1518T>G (n.*1518T>G)
c.1621T>G (p.Leu541Val)
c.*104T>G (n.*104T>G)
c.*1628T>G (n.*1628T>G)
c.1378T>G (p.Leu460Val)
c.1402-10855T>G (n.1402-10855T>G)
c.1714T>G (p.Leu572Val)
c.1894T>G (p.Leu632Val)
c.1561T>G (p.Leu521Val)
7g.117591971T=CA1737393878CFTRc.1804T= (p.Leu602=)
c.*1518T= (n.*1518T=)
c.1621T= (p.Leu541=)
c.*104T= (n.*104T=)
c.*1628T= (n.*1628T=)
c.1378T= (p.Leu460=)
c.1402-10855T= (n.1402-10855T=)
c.1714T= (p.Leu572=)
c.1894T= (p.Leu632=)
c.1561T= (p.Leu521=)
7g.117591972T>ACA368977989CFTRc.1805T>A (p.Leu602Ter)
c.*1519T>A (n.*1519T>A)
c.1622T>A (p.Leu541Ter)
c.*105T>A (n.*105T>A)
c.*1629T>A (n.*1629T>A)
c.1379T>A (p.Leu460Ter)
c.1402-10854T>A (n.1402-10854T>A)
c.1715T>A (p.Leu572Ter)
c.1895T>A (p.Leu632Ter)
c.1562T>A (p.Leu521Ter)
7g.117591972T>CCA368977994CFTRc.1805T>C (p.Leu602Ser)
c.*1519T>C (n.*1519T>C)
c.1622T>C (p.Leu541Ser)
c.*105T>C (n.*105T>C)
c.*1629T>C (n.*1629T>C)
c.1379T>C (p.Leu460Ser)
c.1402-10854T>C (n.1402-10854T>C)
c.1715T>C (p.Leu572Ser)
c.1895T>C (p.Leu632Ser)
c.1562T>C (p.Leu521Ser)
7g.117591972T>GCA368977997CFTRc.1805T>G (p.Leu602Trp)
c.*1519T>G (n.*1519T>G)
c.1622T>G (p.Leu541Trp)
c.*105T>G (n.*105T>G)
c.*1629T>G (n.*1629T>G)
c.1379T>G (p.Leu460Trp)
c.1402-10854T>G (n.1402-10854T>G)
c.1715T>G (p.Leu572Trp)
c.1895T>G (p.Leu632Trp)
c.1562T>G (p.Leu521Trp)
7g.117591973G>ACA457448827CFTRc.1806G>A (p.Leu602=)
c.*1520G>A (n.*1520G>A)
c.1623G>A (p.Leu541=)
c.*106G>A (n.*106G>A)
c.*1630G>A (n.*1630G>A)
c.1380G>A (p.Leu460=)
c.1402-10853G>A (n.1402-10853G>A)
c.1716G>A (p.Leu572=)
c.1896G>A (p.Leu632=)
c.1563G>A (p.Leu521=)
7g.117591973G>CCA368978001CFTRc.1806G>C (p.Leu602Phe)
c.*1520G>C (n.*1520G>C)
c.1623G>C (p.Leu541Phe)
c.*106G>C (n.*106G>C)
c.*1630G>C (n.*1630G>C)
c.1380G>C (p.Leu460Phe)
c.1402-10853G>C (n.1402-10853G>C)
c.1716G>C (p.Leu572Phe)
c.1896G>C (p.Leu632Phe)
c.1563G>C (p.Leu521Phe)
7g.117591973G>TCA368978005CFTRc.1806G>T (p.Leu602Phe)
c.*1520G>T (n.*1520G>T)
c.1623G>T (p.Leu541Phe)
c.*106G>T (n.*106G>T)
c.*1630G>T (n.*1630G>T)
c.1380G>T (p.Leu460Phe)
c.1402-10853G>T (n.1402-10853G>T)
c.1716G>T (p.Leu572Phe)
c.1896G>T (p.Leu632Phe)
c.1563G>T (p.Leu521Phe)
 ClinVar
7g.117591974delCA2580076498CFTRc.1807del (p.Val603SerfsTer8)
c.*1521del (n.*1521del)
c.1624del (p.Val542SerfsTer8)
c.*107del (n.*107del)
c.*1631del (n.*1631del)
c.1381del (p.Val461SerfsTer8)
c.1402-10852del (n.1402-10852del)
c.1717del (p.Val573SerfsTer8)
c.1897del (p.Val633SerfsTer8)
c.1564del (p.Val522SerfsTer8)
 ClinVar
7g.117591974G>ACA4451099CFTRc.1807G>A (p.Val603Ile)
c.*1521G>A (n.*1521G>A)
c.1624G>A (p.Val542Ile)
c.*107G>A (n.*107G>A)
c.*1631G>A (n.*1631G>A)
c.1381G>A (p.Val461Ile)
c.1402-10852G>A (n.1402-10852G>A)
c.1717G>A (p.Val573Ile)
c.1897G>A (p.Val633Ile)
c.1564G>A (p.Val522Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117591974G>CCA368978013CFTRc.1807G>C (p.Val603Leu)
c.*1521G>C (n.*1521G>C)
c.1624G>C (p.Val542Leu)
c.*107G>C (n.*107G>C)
c.*1631G>C (n.*1631G>C)
c.1381G>C (p.Val461Leu)
c.1402-10852G>C (n.1402-10852G>C)
c.1717G>C (p.Val573Leu)
c.1897G>C (p.Val633Leu)
c.1564G>C (p.Val522Leu)
7g.117591974G=CA1737393883CFTRc.1807G= (p.Val603=)
c.*1521G= (n.*1521G=)
c.1624G= (p.Val542=)
c.*107G= (n.*107G=)
c.*1631G= (n.*1631G=)
c.1381G= (p.Val461=)
c.1402-10852G= (n.1402-10852G=)
c.1717G= (p.Val573=)
c.1897G= (p.Val633=)
c.1564G= (p.Val522=)
7g.117591974G>TCA326684CFTRc.1807G>T (p.Val603Phe)
c.*1521G>T (n.*1521G>T)
c.1624G>T (p.Val542Phe)
c.*107G>T (n.*107G>T)
c.*1631G>T (n.*1631G>T)
c.1381G>T (p.Val461Phe)
c.1402-10852G>T (n.1402-10852G>T)
c.1717G>T (p.Val573Phe)
c.1897G>T (p.Val633Phe)
c.1564G>T (p.Val522Phe)
 ClinVar dbSNP
7g.117591975T>ACA368978016CFTRc.1808T>A (p.Val603Asp)
c.*1522T>A (n.*1522T>A)
c.1625T>A (p.Val542Asp)
c.*108T>A (n.*108T>A)
c.*1632T>A (n.*1632T>A)
c.1382T>A (p.Val461Asp)
c.1402-10851T>A (n.1402-10851T>A)
c.1718T>A (p.Val573Asp)
c.1898T>A (p.Val633Asp)
c.1565T>A (p.Val522Asp)
7g.117591975T>CCA4451100CFTRc.1808T>C (p.Val603Ala)
c.*1522T>C (n.*1522T>C)
c.1625T>C (p.Val542Ala)
c.*108T>C (n.*108T>C)
c.*1632T>C (n.*1632T>C)
c.1382T>C (p.Val461Ala)
c.1402-10851T>C (n.1402-10851T>C)
c.1718T>C (p.Val573Ala)
c.1898T>C (p.Val633Ala)
c.1565T>C (p.Val522Ala)
 dbSNP ExAC gnomAD v2
7g.117591975T>GCA368978021CFTRc.1808T>G (p.Val603Gly)
c.*1522T>G (n.*1522T>G)
c.1625T>G (p.Val542Gly)
c.*108T>G (n.*108T>G)
c.*1632T>G (n.*1632T>G)
c.1382T>G (p.Val461Gly)
c.1402-10851T>G (n.1402-10851T>G)
c.1718T>G (p.Val573Gly)
c.1898T>G (p.Val633Gly)
c.1565T>G (p.Val522Gly)
7g.117591975T=CA1737393890CFTRc.1808T= (p.Val603=)
c.*1522T= (n.*1522T=)
c.1625T= (p.Val542=)
c.*108T= (n.*108T=)
c.*1632T= (n.*1632T=)
c.1382T= (p.Val461=)
c.1402-10851T= (n.1402-10851T=)
c.1718T= (p.Val573=)
c.1898T= (p.Val633=)
c.1565T= (p.Val522=)
7g.117591976C>ACA457448828CFTRc.1809C>A (p.Val603=)
c.*1523C>A (n.*1523C>A)
c.1626C>A (p.Val542=)
c.*109C>A (n.*109C>A)
c.*1633C>A (n.*1633C>A)
c.1383C>A (p.Val461=)
c.1402-10850C>A (n.1402-10850C>A)
c.1719C>A (p.Val573=)
c.1899C>A (p.Val633=)
c.1566C>A (p.Val522=)
 gnomAD v4
7g.117591976C=CA1737393893CFTRc.1809C= (p.Val603=)
c.*1523C= (n.*1523C=)
c.1626C= (p.Val542=)
c.*109C= (n.*109C=)
c.*1633C= (n.*1633C=)
c.1383C= (p.Val461=)
c.1402-10850C= (n.1402-10850C=)
c.1719C= (p.Val573=)
c.1899C= (p.Val633=)
c.1566C= (p.Val522=)
7g.117591976C>GCA457448829CFTRc.1809C>G (p.Val603=)
c.*1523C>G (n.*1523C>G)
c.1626C>G (p.Val542=)
c.*109C>G (n.*109C>G)
c.*1633C>G (n.*1633C>G)
c.1383C>G (p.Val461=)
c.1402-10850C>G (n.1402-10850C>G)
c.1719C>G (p.Val573=)
c.1899C>G (p.Val633=)
c.1566C>G (p.Val522=)
7g.117591976C>TCA4451101CFTRc.1809C>T (p.Val603=)
c.*1523C>T (n.*1523C>T)
c.1626C>T (p.Val542=)
c.*109C>T (n.*109C>T)
c.*1633C>T (n.*1633C>T)
c.1383C>T (p.Val461=)
c.1402-10850C>T (n.1402-10850C>T)
c.1719C>T (p.Val573=)
c.1899C>T (p.Val633=)
c.1566C>T (p.Val522=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
7g.117591977A=CA1737393901CFTRc.1810A= (p.Thr604=)
c.*1524A= (n.*1524A=)
c.1627A= (p.Thr543=)
c.*110A= (n.*110A=)
c.*1634A= (n.*1634A=)
c.1384A= (p.Thr462=)
c.1402-10849A= (n.1402-10849A=)
c.1720A= (p.Thr574=)
c.1900A= (p.Thr634=)
c.1567A= (p.Thr523=)
7g.117591977A>CCA368978040CFTRc.1810A>C (p.Thr604Pro)
c.*1524A>C (n.*1524A>C)
c.1627A>C (p.Thr543Pro)
c.*110A>C (n.*110A>C)
c.*1634A>C (n.*1634A>C)
c.1384A>C (p.Thr462Pro)
c.1402-10849A>C (n.1402-10849A>C)
c.1720A>C (p.Thr574Pro)
c.1900A>C (p.Thr634Pro)
c.1567A>C (p.Thr523Pro)
 ClinVar dbSNP
7g.117591977A>GCA368978037CFTRc.1810A>G (p.Thr604Ala)
c.*1524A>G (n.*1524A>G)
c.1627A>G (p.Thr543Ala)
c.*110A>G (n.*110A>G)
c.*1634A>G (n.*1634A>G)
c.1384A>G (p.Thr462Ala)
c.1402-10849A>G (n.1402-10849A>G)
c.1720A>G (p.Thr574Ala)
c.1900A>G (p.Thr634Ala)
c.1567A>G (p.Thr523Ala)
7g.117591977A>TCA368978029CFTRc.1810A>T (p.Thr604Ser)
c.*1524A>T (n.*1524A>T)
c.1627A>T (p.Thr543Ser)
c.*110A>T (n.*110A>T)
c.*1634A>T (n.*1634A>T)
c.1384A>T (p.Thr462Ser)
c.1402-10849A>T (n.1402-10849A>T)
c.1720A>T (p.Thr574Ser)
c.1900A>T (p.Thr634Ser)
c.1567A>T (p.Thr523Ser)
7g.117591978delCA2739278626CFTRc.1811del (p.Thr604IlefsTer7)
c.*1525del (n.*1525del)
c.1628del (p.Thr543IlefsTer7)
c.*111del (n.*111del)
c.*1635del (n.*1635del)
c.1385del (p.Thr462IlefsTer7)
c.1402-10848del (n.1402-10848del)
c.1721del (p.Thr574IlefsTer7)
c.1901del (p.Thr634IlefsTer7)
c.1568del (p.Thr523IlefsTer7)
 ClinVar
7g.117591978C>ACA368978046CFTRc.1811C>A (p.Thr604Asn)
c.*1525C>A (n.*1525C>A)
c.1628C>A (p.Thr543Asn)
c.*111C>A (n.*111C>A)
c.*1635C>A (n.*1635C>A)
c.1385C>A (p.Thr462Asn)
c.1402-10848C>A (n.1402-10848C>A)
c.1721C>A (p.Thr574Asn)
c.1901C>A (p.Thr634Asn)
c.1568C>A (p.Thr523Asn)
7g.117591978C=CA1737393908CFTRc.1811C= (p.Thr604=)
c.*1525C= (n.*1525C=)
c.1628C= (p.Thr543=)
c.*111C= (n.*111C=)
c.*1635C= (n.*1635C=)
c.1385C= (p.Thr462=)
c.1402-10848C= (n.1402-10848C=)
c.1721C= (p.Thr574=)
c.1901C= (p.Thr634=)
c.1568C= (p.Thr523=)
7g.117591978C>GCA326686CFTRc.1811C>G (p.Thr604Ser)
c.*1525C>G (n.*1525C>G)
c.1628C>G (p.Thr543Ser)
c.*111C>G (n.*111C>G)
c.*1635C>G (n.*1635C>G)
c.1385C>G (p.Thr462Ser)
c.1402-10848C>G (n.1402-10848C>G)
c.1721C>G (p.Thr574Ser)
c.1901C>G (p.Thr634Ser)
c.1568C>G (p.Thr523Ser)
 ClinVar dbSNP gnomAD v3 gnomAD v4
7g.117591978C>TCA326688CFTRc.1811C>T (p.Thr604Ile)
c.*1525C>T (n.*1525C>T)
c.1628C>T (p.Thr543Ile)
c.*111C>T (n.*111C>T)
c.*1635C>T (n.*1635C>T)
c.1385C>T (p.Thr462Ile)
c.1402-10848C>T (n.1402-10848C>T)
c.1721C>T (p.Thr574Ile)
c.1901C>T (p.Thr634Ile)
c.1568C>T (p.Thr523Ile)
 ClinVar dbSNP gnomAD v4
7g.117591979T>ACA457448830CFTRc.1812T>A (p.Thr604=)
c.*1526T>A (n.*1526T>A)
c.1629T>A (p.Thr543=)
c.*112T>A (n.*112T>A)
c.*1636T>A (n.*1636T>A)
c.1386T>A (p.Thr462=)
c.1402-10847T>A (n.1402-10847T>A)
c.1722T>A (p.Thr574=)
c.1902T>A (p.Thr634=)
c.1569T>A (p.Thr523=)
7g.117591979T>CCA457448832CFTRc.1812T>C (p.Thr604=)
c.*1526T>C (n.*1526T>C)
c.1629T>C (p.Thr543=)
c.*112T>C (n.*112T>C)
c.*1636T>C (n.*1636T>C)
c.1386T>C (p.Thr462=)
c.1402-10847T>C (n.1402-10847T>C)
c.1722T>C (p.Thr574=)
c.1902T>C (p.Thr634=)
c.1569T>C (p.Thr523=)
7g.117591979T>GCA457448831CFTRc.1812T>G (p.Thr604=)
c.*1526T>G (n.*1526T>G)
c.1629T>G (p.Thr543=)
c.*112T>G (n.*112T>G)
c.*1636T>G (n.*1636T>G)
c.1386T>G (p.Thr462=)
c.1402-10847T>G (n.1402-10847T>G)
c.1722T>G (p.Thr574=)
c.1902T>G (p.Thr634=)
c.1569T>G (p.Thr523=)
7g.117591980T>ACA368978055CFTRc.1813T>A (p.Ser605Thr)
c.*1527T>A (n.*1527T>A)
c.1630T>A (p.Ser544Thr)
c.*113T>A (n.*113T>A)
c.*1637T>A (n.*1637T>A)
c.1387T>A (p.Ser463Thr)
c.1402-10846T>A (n.1402-10846T>A)
c.1723T>A (p.Ser575Thr)
c.1903T>A (p.Ser635Thr)
c.1570T>A (p.Ser524Thr)
7g.117591980T>CCA4451102CFTRc.1813T>C (p.Ser605Pro)
c.*1527T>C (n.*1527T>C)
c.1630T>C (p.Ser544Pro)
c.*113T>C (n.*113T>C)
c.*1637T>C (n.*1637T>C)
c.1387T>C (p.Ser463Pro)
c.1402-10846T>C (n.1402-10846T>C)
c.1723T>C (p.Ser575Pro)
c.1903T>C (p.Ser635Pro)
c.1570T>C (p.Ser524Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.117591980T>GCA368978060CFTRc.1813T>G (p.Ser605Ala)
c.*1527T>G (n.*1527T>G)
c.1630T>G (p.Ser544Ala)
c.*113T>G (n.*113T>G)
c.*1637T>G (n.*1637T>G)
c.1387T>G (p.Ser463Ala)
c.1402-10846T>G (n.1402-10846T>G)
c.1723T>G (p.Ser575Ala)
c.1903T>G (p.Ser635Ala)
c.1570T>G (p.Ser524Ala)
7g.117591980T=CA1737393916CFTRc.1813T= (p.Ser605=)
c.*1527T= (n.*1527T=)
c.1630T= (p.Ser544=)
c.*113T= (n.*113T=)
c.*1637T= (n.*1637T=)
c.1387T= (p.Ser463=)
c.1402-10846T= (n.1402-10846T=)
c.1723T= (p.Ser575=)
c.1903T= (p.Ser635=)
c.1570T= (p.Ser524=)
7g.117591981C>ACA368978072CFTRc.1814C>A (p.Ser605Tyr)
c.*1528C>A (n.*1528C>A)
c.1631C>A (p.Ser544Tyr)
c.*114C>A (n.*114C>A)
c.*1638C>A (n.*1638C>A)
c.1388C>A (p.Ser463Tyr)
c.1402-10845C>A (n.1402-10845C>A)
c.1724C>A (p.Ser575Tyr)
c.1904C>A (p.Ser635Tyr)
c.1571C>A (p.Ser524Tyr)
7g.117591981C=CA1737393918CFTRc.1814C= (p.Ser605=)
c.*1528C= (n.*1528C=)
c.1631C= (p.Ser544=)
c.*114C= (n.*114C=)
c.*1638C= (n.*1638C=)
c.1388C= (p.Ser463=)
c.1402-10845C= (n.1402-10845C=)
c.1724C= (p.Ser575=)
c.1904C= (p.Ser635=)
c.1571C= (p.Ser524=)
7g.117591981C>GCA368978067CFTRc.1814C>G (p.Ser605Cys)
c.*1528C>G (n.*1528C>G)
c.1631C>G (p.Ser544Cys)
c.*114C>G (n.*114C>G)
c.*1638C>G (n.*1638C>G)
c.1388C>G (p.Ser463Cys)
c.1402-10845C>G (n.1402-10845C>G)
c.1724C>G (p.Ser575Cys)
c.1904C>G (p.Ser635Cys)
c.1571C>G (p.Ser524Cys)
7g.117591981C>TCA164947442CFTRc.1814C>T (p.Ser605Phe)
c.*1528C>T (n.*1528C>T)
c.1631C>T (p.Ser544Phe)
c.*114C>T (n.*114C>T)
c.*1638C>T (n.*1638C>T)
c.1388C>T (p.Ser463Phe)
c.1402-10845C>T (n.1402-10845C>T)
c.1724C>T (p.Ser575Phe)
c.1904C>T (p.Ser635Phe)
c.1571C>T (p.Ser524Phe)
 dbSNP
7g.117591982T>ACA457448833CFTRc.1815T>A (p.Ser605=)
c.*1529T>A (n.*1529T>A)
c.1632T>A (p.Ser544=)
c.*115T>A (n.*115T>A)
c.*1639T>A (n.*1639T>A)
c.1389T>A (p.Ser463=)
c.1402-10844T>A (n.1402-10844T>A)
c.1725T>A (p.Ser575=)
c.1905T>A (p.Ser635=)
c.1572T>A (p.Ser524=)
7g.117591982T>CCA457448834CFTRc.1815T>C (p.Ser605=)
c.*1529T>C (n.*1529T>C)
c.1632T>C (p.Ser544=)
c.*115T>C (n.*115T>C)
c.*1639T>C (n.*1639T>C)
c.1389T>C (p.Ser463=)
c.1402-10844T>C (n.1402-10844T>C)
c.1725T>C (p.Ser575=)
c.1905T>C (p.Ser635=)
c.1572T>C (p.Ser524=)
 dbSNP
7g.117591982T>GCA457448835CFTRc.1815T>G (p.Ser605=)
c.*1529T>G (n.*1529T>G)
c.1632T>G (p.Ser544=)
c.*115T>G (n.*115T>G)
c.*1639T>G (n.*1639T>G)
c.1389T>G (p.Ser463=)
c.1402-10844T>G (n.1402-10844T>G)
c.1725T>G (p.Ser575=)
c.1905T>G (p.Ser635=)
c.1572T>G (p.Ser524=)
7g.117591982T=CA1737393921CFTRc.1815T= (p.Ser605=)
c.*1529T= (n.*1529T=)
c.1632T= (p.Ser544=)
c.*115T= (n.*115T=)
c.*1639T= (n.*1639T=)
c.1389T= (p.Ser463=)
c.1402-10844T= (n.1402-10844T=)
c.1725T= (p.Ser575=)
c.1905T= (p.Ser635=)
c.1572T= (p.Ser524=)
7g.117591983A=CA1737393926CFTRc.1816A= (p.Lys606=)
c.*1530A= (n.*1530A=)
c.1633A= (p.Lys545=)
c.*116A= (n.*116A=)
c.*1640A= (n.*1640A=)
c.1390A= (p.Lys464=)
c.1402-10843A= (n.1402-10843A=)
c.1726A= (p.Lys576=)
c.1906A= (p.Lys636=)
c.1573A= (p.Lys525=)
7g.117591983A>CCA368978076CFTRc.1816A>C (p.Lys606Gln)
c.*1530A>C (n.*1530A>C)
c.1633A>C (p.Lys545Gln)
c.*116A>C (n.*116A>C)
c.*1640A>C (n.*1640A>C)
c.1390A>C (p.Lys464Gln)
c.1402-10843A>C (n.1402-10843A>C)
c.1726A>C (p.Lys576Gln)
c.1906A>C (p.Lys636Gln)
c.1573A>C (p.Lys525Gln)
7g.117591983A>GCA368978081CFTRc.1816A>G (p.Lys606Glu)
c.*1530A>G (n.*1530A>G)
c.1633A>G (p.Lys545Glu)
c.*116A>G (n.*116A>G)
c.*1640A>G (n.*1640A>G)
c.1390A>G (p.Lys464Glu)
c.1402-10843A>G (n.1402-10843A>G)
c.1726A>G (p.Lys576Glu)
c.1906A>G (p.Lys636Glu)
c.1573A>G (p.Lys525Glu)
 dbSNP gnomAD v3 gnomAD v4
7g.117591983A>TCA368978088CFTRc.1816A>T (p.Lys606Ter)
c.*1530A>T (n.*1530A>T)
c.1633A>T (p.Lys545Ter)
c.*116A>T (n.*116A>T)
c.*1640A>T (n.*1640A>T)
c.1390A>T (p.Lys464Ter)
c.1402-10843A>T (n.1402-10843A>T)
c.1726A>T (p.Lys576Ter)
c.1906A>T (p.Lys636Ter)
c.1573A>T (p.Lys525Ter)
7g.117591983_117592067delinsAAAATGGAACATTTAAAGAAAGCTGACAAAATATTAATTTTGCATGAAGGTAGCAGCTATTTTTATGGGACATTTTCAGAACTCCCA1737393925CFTRc.1816_1900delinsAAAATGGAACATTTAAAGAAAGCTGACAAAATATTAATTTTGCATGAAGGTAGCAGCTATTTTTATGGGACATTTTCAGAACTCC (p.Lys606=)
c.*1530_*1614delinsAAAATGGAACATTTAAAGAAAGCTGACAAAATATTAATTTTGCATGAAGGTAGCAGCTATTTTTATGGGACATTTTCAGAACTCC (n.*1530_*1614delinsAAAATGGAACATTTAAAGAAAGCTGACAAAATATTAATTTTGCATGAAGGTAGCAGCTATTTTTATGGGACATTTTCAGAACTCC)
c.1633_1717delinsAAAATGGAACATTTAAAGAAAGCTGACAAAATATTAATTTTGCATGAAGGTAGCAGCTATTTTTATGGGACATTTTCAGAACTCC (p.Lys545=)
c.*116_*200delinsAAAATGGAACATTTAAAGAAAGCTGACAAAATATTAATTTTGCATGAAGGTAGCAGCTATTTTTATGGGACATTTTCAGAACTCC (n.*116_*200delinsAAAATGGAACATTTAAAGAAAGCTGACAAAATATTAATTTTGCATGAAGGTAGCAGCTATTTTTATGGGACATTTTCAGAACTCC)
c.*1640_*1724delinsAAAATGGAACATTTAAAGAAAGCTGACAAAATATTAATTTTGCATGAAGGTAGCAGCTATTTTTATGGGACATTTTCAGAACTCC (n.*1640_*1724delinsAAAATGGAACATTTAAAGAAAGCTGACAAAATATTAATTTTGCATGAAGGTAGCAGCTATTTTTATGGGACATTTTCAGAACTCC)
c.1390_1474delinsAAAATGGAACATTTAAAGAAAGCTGACAAAATATTAATTTTGCATGAAGGTAGCAGCTATTTTTATGGGACATTTTCAGAACTCC (p.Lys464=)
c.1402-10843_1402-10759delinsAAAATGGAACATTTAAAGAAAGCTGACAAAATATTAATTTTGCATGAAGGTAGCAGCTATTTTTATGGGACATTTTCAGAACTCC (n.1402-10843_1402-10759delinsAAAATGGAACATTTAAAGAAAGCTGACAAAATATTAATTTTGCATGAAGGTAGCAGCTATTTTTATGGGACATTTTCAGAACTCC)
c.1726_1810delinsAAAATGGAACATTTAAAGAAAGCTGACAAAATATTAATTTTGCATGAAGGTAGCAGCTATTTTTATGGGACATTTTCAGAACTCC (p.Lys576=)
c.1906_1990delinsAAAATGGAACATTTAAAGAAAGCTGACAAAATATTAATTTTGCATGAAGGTAGCAGCTATTTTTATGGGACATTTTCAGAACTCC (p.Lys636=)
c.1573_1657delinsAAAATGGAACATTTAAAGAAAGCTGACAAAATATTAATTTTGCATGAAGGTAGCAGCTATTTTTATGGGACATTTTCAGAACTCC (p.Lys525=)
7g.117591983_117591984insGGAGTTCTGAAAATGTCCCATAAAAATAGCTGCTACCTTCATGCAAAATTAATATTTTGTCAGCTTTCTTTAAATGTTCCATTTCA164947456CFTRc.1816_1817insGGAGTTCTGAAAATGTCCCATAAAAATAGCTGCTACCTTCATGCAAAATTAATATTTTGTCAGCTTTCTTTAAATGTTCCATTT (p.Lys606ArgfsTer8)
c.*1530_*1531insGGAGTTCTGAAAATGTCCCATAAAAATAGCTGCTACCTTCATGCAAAATTAATATTTTGTCAGCTTTCTTTAAATGTTCCATTT (n.*1530_*1531insGGAGTTCTGAAAATGTCCCATAAAAATAGCTGCTACCTTCATGCAAAATTAATATTTTGTCAGCTTTCTTTAAATGTTCCATTT)
c.1633_1634insGGAGTTCTGAAAATGTCCCATAAAAATAGCTGCTACCTTCATGCAAAATTAATATTTTGTCAGCTTTCTTTAAATGTTCCATTT (p.Lys545ArgfsTer8)
c.*116_*117insGGAGTTCTGAAAATGTCCCATAAAAATAGCTGCTACCTTCATGCAAAATTAATATTTTGTCAGCTTTCTTTAAATGTTCCATTT (n.*116_*117insGGAGTTCTGAAAATGTCCCATAAAAATAGCTGCTACCTTCATGCAAAATTAATATTTTGTCAGCTTTCTTTAAATGTTCCATTT)
c.*1640_*1641insGGAGTTCTGAAAATGTCCCATAAAAATAGCTGCTACCTTCATGCAAAATTAATATTTTGTCAGCTTTCTTTAAATGTTCCATTT (n.*1640_*1641insGGAGTTCTGAAAATGTCCCATAAAAATAGCTGCTACCTTCATGCAAAATTAATATTTTGTCAGCTTTCTTTAAATGTTCCATTT)
c.1390_1391insGGAGTTCTGAAAATGTCCCATAAAAATAGCTGCTACCTTCATGCAAAATTAATATTTTGTCAGCTTTCTTTAAATGTTCCATTT (p.Lys464ArgfsTer8)
c.1402-10843_1402-10842insGGAGTTCTGAAAATGTCCCATAAAAATAGCTGCTACCTTCATGCAAAATTAATATTTTGTCAGCTTTCTTTAAATGTTCCATTT (n.1402-10843_1402-10842insGGAGTTCTGAAAATGTCCCATAAAAATAGCTGCTACCTTCATGCAAAATTAATATTTTGTCAGCTTTCTTTAAATGTTCCATTT)
c.1726_1727insGGAGTTCTGAAAATGTCCCATAAAAATAGCTGCTACCTTCATGCAAAATTAATATTTTGTCAGCTTTCTTTAAATGTTCCATTT (p.Lys576ArgfsTer8)
c.1906_1907insGGAGTTCTGAAAATGTCCCATAAAAATAGCTGCTACCTTCATGCAAAATTAATATTTTGTCAGCTTTCTTTAAATGTTCCATTT (p.Lys636ArgfsTer8)
c.1573_1574insGGAGTTCTGAAAATGTCCCATAAAAATAGCTGCTACCTTCATGCAAAATTAATATTTTGTCAGCTTTCTTTAAATGTTCCATTT (p.Lys525ArgfsTer8)
 dbSNP
7g.117591984A>CCA368978097CFTRc.1817A>C (p.Lys606Thr)
c.*1531A>C (n.*1531A>C)
c.1634A>C (p.Lys545Thr)
c.*117A>C (n.*117A>C)
c.*1641A>C (n.*1641A>C)
c.1391A>C (p.Lys464Thr)
c.1402-10842A>C (n.1402-10842A>C)
c.1727A>C (p.Lys576Thr)
c.1907A>C (p.Lys636Thr)
c.1574A>C (p.Lys525Thr)
7g.117591984A>GCA368978099CFTRc.1817A>G (p.Lys606Arg)
c.*1531A>G (n.*1531A>G)
c.1634A>G (p.Lys545Arg)
c.*117A>G (n.*117A>G)
c.*1641A>G (n.*1641A>G)
c.1391A>G (p.Lys464Arg)
c.1402-10842A>G (n.1402-10842A>G)
c.1727A>G (p.Lys576Arg)
c.1907A>G (p.Lys636Arg)
c.1574A>G (p.Lys525Arg)
7g.117591984A>TCA368978103CFTRc.1817A>T (p.Lys606Ile)
c.*1531A>T (n.*1531A>T)
c.1634A>T (p.Lys545Ile)
c.*117A>T (n.*117A>T)
c.*1641A>T (n.*1641A>T)
c.1391A>T (p.Lys464Ile)
c.1402-10842A>T (n.1402-10842A>T)
c.1727A>T (p.Lys576Ile)
c.1907A>T (p.Lys636Ile)
c.1574A>T (p.Lys525Ile)
7g.117591987_117592070dupCA918111646CFTRc.1820_1903dup (p.Gln634_Asn635insMetGluHisLeuLysLysAlaAspLysIleLeuIleLeuHisGluGlySerSerTyrPheTyrGlyThrPheSerGluLeuGln)
c.*1534_*1617dup (n.*1534_*1617dup)
c.1637_1720dup (p.Gln573_Asn574insMetGluHisLeuLysLysAlaAspLysIleLeuIleLeuHisGluGlySerSerTyrPheTyrGlyThrPheSerGluLeuGln)
c.*120_*203dup (n.*120_*203dup)
c.*1644_*1727dup (n.*1644_*1727dup)
c.1394_1477dup (p.Gln492_Asn493insMetGluHisLeuLysLysAlaAspLysIleLeuIleLeuHisGluGlySerSerTyrPheTyrGlyThrPheSerGluLeuGln)
c.1402-10839_1402-10756dup (n.1402-10839_1402-10756dup)
c.1730_1813dup (p.Gln604_Asn605insMetGluHisLeuLysLysAlaAspLysIleLeuIleLeuHisGluGlySerSerTyrPheTyrGlyThrPheSerGluLeuGln)
c.1910_1993dup (p.Gln664_Asn665insMetGluHisLeuLysLysAlaAspLysIleLeuIleLeuHisGluGlySerSerTyrPheTyrGlyThrPheSerGluLeuGln)
c.1577_1660dup (p.Gln553_Asn554insMetGluHisLeuLysLysAlaAspLysIleLeuIleLeuHisGluGlySerSerTyrPheTyrGlyThrPheSerGluLeuGln)
 dbSNP
7g.117591987_117592070delCA325542CFTRc.1820_1903del (p.Met607_Gln634del)
c.*1534_*1617del (n.*1534_*1617del)
c.1637_1720del (p.Met546_Gln573del)
c.*120_*203del (n.*120_*203del)
c.*1644_*1727del (n.*1644_*1727del)
c.1394_1477del (p.Met465_Gln492del)
c.1402-10839_1402-10756del (n.1402-10839_1402-10756del)
c.1730_1813del (p.Met577_Gln604del)
c.1910_1993del (p.Met637_Gln664del)
c.1577_1660del (p.Met526_Gln553del)
 ClinVar dbSNP gnomAD v3 gnomAD v4
7g.117591985A>CCA368978111CFTRc.1818A>C (p.Lys606Asn)
c.*1532A>C (n.*1532A>C)
c.1635A>C (p.Lys545Asn)
c.*118A>C (n.*118A>C)
c.*1642A>C (n.*1642A>C)
c.1392A>C (p.Lys464Asn)
c.1402-10841A>C (n.1402-10841A>C)
c.1728A>C (p.Lys576Asn)
c.1908A>C (p.Lys636Asn)
c.1575A>C (p.Lys525Asn)
7g.117591985A>GCA457448836CFTRc.1818A>G (p.Lys606=)
c.*1532A>G (n.*1532A>G)
c.1635A>G (p.Lys545=)
c.*118A>G (n.*118A>G)
c.*1642A>G (n.*1642A>G)
c.1392A>G (p.Lys464=)
c.1402-10841A>G (n.1402-10841A>G)
c.1728A>G (p.Lys576=)
c.1908A>G (p.Lys636=)
c.1575A>G (p.Lys525=)
7g.117591985A>TCA368978115CFTRc.1818A>T (p.Lys606Asn)
c.*1532A>T (n.*1532A>T)
c.1635A>T (p.Lys545Asn)
c.*118A>T (n.*118A>T)
c.*1642A>T (n.*1642A>T)
c.1392A>T (p.Lys464Asn)
c.1402-10841A>T (n.1402-10841A>T)
c.1728A>T (p.Lys576Asn)
c.1908A>T (p.Lys636Asn)
c.1575A>T (p.Lys525Asn)
7g.117591986A>CCA368978131CFTRc.1819A>C (p.Met607Leu)
c.*1533A>C (n.*1533A>C)
c.1636A>C (p.Met546Leu)
c.*119A>C (n.*119A>C)
c.*1643A>C (n.*1643A>C)
c.1393A>C (p.Met465Leu)
c.1402-10840A>C (n.1402-10840A>C)
c.1729A>C (p.Met577Leu)
c.1909A>C (p.Met637Leu)
c.1576A>C (p.Met526Leu)
7g.117591986A>GCA368978134CFTRc.1819A>G (p.Met607Val)
c.*1533A>G (n.*1533A>G)
c.1636A>G (p.Met546Val)
c.*119A>G (n.*119A>G)
c.*1643A>G (n.*1643A>G)
c.1393A>G (p.Met465Val)
c.1402-10840A>G (n.1402-10840A>G)
c.1729A>G (p.Met577Val)
c.1909A>G (p.Met637Val)
c.1576A>G (p.Met526Val)
7g.117591986A>TCA368978137CFTRc.1819A>T (p.Met607Leu)
c.*1533A>T (n.*1533A>T)
c.1636A>T (p.Met546Leu)
c.*119A>T (n.*119A>T)
c.*1643A>T (n.*1643A>T)
c.1393A>T (p.Met465Leu)
c.1402-10840A>T (n.1402-10840A>T)
c.1729A>T (p.Met577Leu)
c.1909A>T (p.Met637Leu)
c.1576A>T (p.Met526Leu)
7g.117591987T>ACA368978149CFTRc.1820T>A (p.Met607Lys)
c.*1534T>A (n.*1534T>A)
c.1637T>A (p.Met546Lys)
c.*120T>A (n.*120T>A)
c.*1644T>A (n.*1644T>A)
c.1394T>A (p.Met465Lys)
c.1402-10839T>A (n.1402-10839T>A)
c.1730T>A (p.Met577Lys)
c.1910T>A (p.Met637Lys)
c.1577T>A (p.Met526Lys)
7g.117591987T>CCA368978145CFTRc.1820T>C (p.Met607Thr)
c.*1534T>C (n.*1534T>C)
c.1637T>C (p.Met546Thr)
c.*120T>C (n.*120T>C)
c.*1644T>C (n.*1644T>C)
c.1394T>C (p.Met465Thr)
c.1402-10839T>C (n.1402-10839T>C)
c.1730T>C (p.Met577Thr)
c.1910T>C (p.Met637Thr)
c.1577T>C (p.Met526Thr)
 gnomAD v4
7g.117591987T>GCA368978141CFTRc.1820T>G (p.Met607Arg)
c.*1534T>G (n.*1534T>G)
c.1637T>G (p.Met546Arg)
c.*120T>G (n.*120T>G)
c.*1644T>G (n.*1644T>G)
c.1394T>G (p.Met465Arg)
c.1402-10839T>G (n.1402-10839T>G)
c.1730T>G (p.Met577Arg)
c.1910T>G (p.Met637Arg)
c.1577T>G (p.Met526Arg)
7g.117591988G>ACA368978154CFTRc.1821G>A (p.Met607Ile)
c.*1535G>A (n.*1535G>A)
c.1638G>A (p.Met546Ile)
c.*121G>A (n.*121G>A)
c.*1645G>A (n.*1645G>A)
c.1395G>A (p.Met465Ile)
c.1402-10838G>A (n.1402-10838G>A)
c.1731G>A (p.Met577Ile)
c.1911G>A (p.Met637Ile)
c.1578G>A (p.Met526Ile)
 ClinVar dbSNP gnomAD v3 gnomAD v4
7g.117591988G>CCA368978156CFTRc.1821G>C (p.Met607Ile)
c.*1535G>C (n.*1535G>C)
c.1638G>C (p.Met546Ile)
c.*121G>C (n.*121G>C)
c.*1645G>C (n.*1645G>C)
c.1395G>C (p.Met465Ile)
c.1402-10838G>C (n.1402-10838G>C)
c.1731G>C (p.Met577Ile)
c.1911G>C (p.Met637Ile)
c.1578G>C (p.Met526Ile)
7g.117591988G=CA1737393934CFTRc.1821G= (p.Met607=)
c.*1535G= (n.*1535G=)
c.1638G= (p.Met546=)
c.*121G= (n.*121G=)
c.*1645G= (n.*1645G=)
c.1395G= (p.Met465=)
c.1402-10838G= (n.1402-10838G=)
c.1731G= (p.Met577=)
c.1911G= (p.Met637=)
c.1578G= (p.Met526=)
7g.117591988G>TCA368978159CFTRc.1821G>T (p.Met607Ile)
c.*1535G>T (n.*1535G>T)
c.1638G>T (p.Met546Ile)
c.*121G>T (n.*121G>T)
c.*1645G>T (n.*1645G>T)
c.1395G>T (p.Met465Ile)
c.1402-10838G>T (n.1402-10838G>T)
c.1731G>T (p.Met577Ile)
c.1911G>T (p.Met637Ile)
c.1578G>T (p.Met526Ile)
7g.117591989delCA2580076499CFTRc.1822del (p.Glu608AsnfsTer3)
c.*1536del (n.*1536del)
c.1639del (p.Glu547AsnfsTer3)
c.*122del (n.*122del)
c.*1646del (n.*1646del)
c.1396del (p.Glu466AsnfsTer3)
c.1402-10837del (n.1402-10837del)
c.1732del (p.Glu578AsnfsTer3)
c.1912del (p.Glu638AsnfsTer3)
c.1579del (p.Glu527AsnfsTer3)
 ClinVar
7g.117591989G>ACA368978165CFTRc.1822G>A (p.Glu608Lys)
c.*1536G>A (n.*1536G>A)
c.1639G>A (p.Glu547Lys)
c.*122G>A (n.*122G>A)
c.*1646G>A (n.*1646G>A)
c.1396G>A (p.Glu466Lys)
c.1402-10837G>A (n.1402-10837G>A)
c.1732G>A (p.Glu578Lys)
c.1912G>A (p.Glu638Lys)
c.1579G>A (p.Glu527Lys)
 gnomAD v4 COSMIC
7g.117591989G>CCA368978168CFTRc.1822G>C (p.Glu608Gln)
c.*1536G>C (n.*1536G>C)
c.1639G>C (p.Glu547Gln)
c.*122G>C (n.*122G>C)
c.*1646G>C (n.*1646G>C)
c.1396G>C (p.Glu466Gln)
c.1402-10837G>C (n.1402-10837G>C)
c.1732G>C (p.Glu578Gln)
c.1912G>C (p.Glu638Gln)
c.1579G>C (p.Glu527Gln)
 gnomAD v4
7g.117591989G>TCA368978172CFTRc.1822G>T (p.Glu608Ter)
c.*1536G>T (n.*1536G>T)
c.1639G>T (p.Glu547Ter)
c.*122G>T (n.*122G>T)
c.*1646G>T (n.*1646G>T)
c.1396G>T (p.Glu466Ter)
c.1402-10837G>T (n.1402-10837G>T)
c.1732G>T (p.Glu578Ter)
c.1912G>T (p.Glu638Ter)
c.1579G>T (p.Glu527Ter)
7g.117591990A=CA1737393937CFTRc.1823A= (p.Glu608=)
c.*1537A= (n.*1537A=)
c.1640A= (p.Glu547=)
c.*123A= (n.*123A=)
c.*1647A= (n.*1647A=)
c.1397A= (p.Glu466=)
c.1402-10836A= (n.1402-10836A=)
c.1733A= (p.Glu578=)
c.1913A= (p.Glu638=)
c.1580A= (p.Glu527=)
7g.117591990A>CCA368978191CFTRc.1823A>C (p.Glu608Ala)
c.*1537A>C (n.*1537A>C)
c.1640A>C (p.Glu547Ala)
c.*123A>C (n.*123A>C)
c.*1647A>C (n.*1647A>C)
c.1397A>C (p.Glu466Ala)
c.1402-10836A>C (n.1402-10836A>C)
c.1733A>C (p.Glu578Ala)
c.1913A>C (p.Glu638Ala)
c.1580A>C (p.Glu527Ala)
7g.117591990A>GCA326690CFTRc.1823A>G (p.Glu608Gly)
c.*1537A>G (n.*1537A>G)
c.1640A>G (p.Glu547Gly)
c.*123A>G (n.*123A>G)
c.*1647A>G (n.*1647A>G)
c.1397A>G (p.Glu466Gly)
c.1402-10836A>G (n.1402-10836A>G)
c.1733A>G (p.Glu578Gly)
c.1913A>G (p.Glu638Gly)
c.1580A>G (p.Glu527Gly)
 ClinVar dbSNP
7g.117591990A>TCA368978183CFTRc.1823A>T (p.Glu608Val)
c.*1537A>T (n.*1537A>T)
c.1640A>T (p.Glu547Val)
c.*123A>T (n.*123A>T)
c.*1647A>T (n.*1647A>T)
c.1397A>T (p.Glu466Val)
c.1402-10836A>T (n.1402-10836A>T)
c.1733A>T (p.Glu578Val)
c.1913A>T (p.Glu638Val)
c.1580A>T (p.Glu527Val)
7g.117591991A>CCA368978196CFTRc.1824A>C (p.Glu608Asp)
c.*1538A>C (n.*1538A>C)
c.1641A>C (p.Glu547Asp)
c.*124A>C (n.*124A>C)
c.*1648A>C (n.*1648A>C)
c.1398A>C (p.Glu466Asp)
c.1402-10835A>C (n.1402-10835A>C)
c.1734A>C (p.Glu578Asp)
c.1914A>C (p.Glu638Asp)
c.1581A>C (p.Glu527Asp)
7g.117591991A>GCA457448837CFTRc.1824A>G (p.Glu608=)
c.*1538A>G (n.*1538A>G)
c.1641A>G (p.Glu547=)
c.*124A>G (n.*124A>G)
c.*1648A>G (n.*1648A>G)
c.1398A>G (p.Glu466=)
c.1402-10835A>G (n.1402-10835A>G)
c.1734A>G (p.Glu578=)
c.1914A>G (p.Glu638=)
c.1581A>G (p.Glu527=)
 ClinVar dbSNP gnomAD v4 COSMIC
7g.117591991A>TCA368978198CFTRc.1824A>T (p.Glu608Asp)
c.*1538A>T (n.*1538A>T)
c.1641A>T (p.Glu547Asp)
c.*124A>T (n.*124A>T)
c.*1648A>T (n.*1648A>T)
c.1398A>T (p.Glu466Asp)
c.1402-10835A>T (n.1402-10835A>T)
c.1734A>T (p.Glu578Asp)
c.1914A>T (p.Glu638Asp)
c.1581A>T (p.Glu527Asp)
7g.117591992C>ACA368978200CFTRc.1825C>A (p.His609Asn)
c.*1539C>A (n.*1539C>A)
c.1642C>A (p.His548Asn)
c.*125C>A (n.*125C>A)
c.*1649C>A (n.*1649C>A)
c.1399C>A (p.His467Asn)
c.1402-10834C>A (n.1402-10834C>A)
c.1735C>A (p.His579Asn)
c.1915C>A (p.His639Asn)
c.1582C>A (p.His528Asn)
 gnomAD v4
7g.117591992C>GCA368978205CFTRc.1825C>G (p.His609Asp)
c.*1539C>G (n.*1539C>G)
c.1642C>G (p.His548Asp)
c.*125C>G (n.*125C>G)
c.*1649C>G (n.*1649C>G)
c.1399C>G (p.His467Asp)
c.1402-10834C>G (n.1402-10834C>G)
c.1735C>G (p.His579Asp)
c.1915C>G (p.His639Asp)
c.1582C>G (p.His528Asp)
7g.117591992C>TCA368978208CFTRc.1825C>T (p.His609Tyr)
c.*1539C>T (n.*1539C>T)
c.1642C>T (p.His548Tyr)
c.*125C>T (n.*125C>T)
c.*1649C>T (n.*1649C>T)
c.1399C>T (p.His467Tyr)
c.1402-10834C>T (n.1402-10834C>T)
c.1735C>T (p.His579Tyr)
c.1915C>T (p.His639Tyr)
c.1582C>T (p.His528Tyr)
 ClinVar dbSNP gnomAD v4
7g.117591993A=CA1737393950CFTRc.1826A= (p.His609=)
c.*1540A= (n.*1540A=)
c.1643A= (p.His548=)
c.*126A= (n.*126A=)
c.*1650A= (n.*1650A=)
c.1400A= (p.His467=)
c.1402-10833A= (n.1402-10833A=)
c.1736A= (p.His579=)
c.1916A= (p.His639=)
c.1583A= (p.His528=)
7g.117591993A>CCA368978213CFTRc.1826A>C (p.His609Pro)
c.*1540A>C (n.*1540A>C)
c.1643A>C (p.His548Pro)
c.*126A>C (n.*126A>C)
c.*1650A>C (n.*1650A>C)
c.1400A>C (p.His467Pro)
c.1402-10833A>C (n.1402-10833A>C)
c.1736A>C (p.His579Pro)
c.1916A>C (p.His639Pro)
c.1583A>C (p.His528Pro)
7g.117591993A>GCA326692CFTRc.1826A>G (p.His609Arg)
c.*1540A>G (n.*1540A>G)
c.1643A>G (p.His548Arg)
c.*126A>G (n.*126A>G)
c.*1650A>G (n.*1650A>G)
c.1400A>G (p.His467Arg)
c.1402-10833A>G (n.1402-10833A>G)
c.1736A>G (p.His579Arg)
c.1916A>G (p.His639Arg)
c.1583A>G (p.His528Arg)
 ClinVar dbSNP gnomAD v3 gnomAD v4
7g.117591993A>TCA326694CFTRc.1826A>T (p.His609Leu)
c.*1540A>T (n.*1540A>T)
c.1643A>T (p.His548Leu)
c.*126A>T (n.*126A>T)
c.*1650A>T (n.*1650A>T)
c.1400A>T (p.His467Leu)
c.1402-10833A>T (n.1402-10833A>T)
c.1736A>T (p.His579Leu)
c.1916A>T (p.His639Leu)
c.1583A>T (p.His528Leu)
 ClinVar dbSNP COSMIC
7g.117591994T>ACA368978218CFTRc.1827T>A (p.His609Gln)
c.*1541T>A (n.*1541T>A)
c.1644T>A (p.His548Gln)
c.*127T>A (n.*127T>A)
c.*1651T>A (n.*1651T>A)
c.1401T>A (p.His467Gln)
c.1402-10832T>A (n.1402-10832T>A)
c.1737T>A (p.His579Gln)
c.1917T>A (p.His639Gln)
c.1584T>A (p.His528Gln)
7g.117591994T>CCA457448838CFTRc.1827T>C (p.His609=)
c.*1541T>C (n.*1541T>C)
c.1644T>C (p.His548=)
c.*127T>C (n.*127T>C)
c.*1651T>C (n.*1651T>C)
c.1401T>C (p.His467=)
c.1402-10832T>C (n.1402-10832T>C)
c.1737T>C (p.His579=)
c.1917T>C (p.His639=)
c.1584T>C (p.His528=)
7g.117591994T>GCA368978219CFTRc.1827T>G (p.His609Gln)
c.*1541T>G (n.*1541T>G)
c.1644T>G (p.His548Gln)
c.*127T>G (n.*127T>G)
c.*1651T>G (n.*1651T>G)
c.1401T>G (p.His467Gln)
c.1402-10832T>G (n.1402-10832T>G)
c.1737T>G (p.His579Gln)
c.1917T>G (p.His639Gln)
c.1584T>G (p.His528Gln)
7g.117591995T>ACA4451103CFTRc.1828T>A (p.Leu610Ile)
c.*1542T>A (n.*1542T>A)
c.1645T>A (p.Leu549Ile)
c.*128T>A (n.*128T>A)
c.*1652T>A (n.*1652T>A)
c.1402T>A (p.Leu468Ile)
c.1402-10831T>A (n.1402-10831T>A)
c.1738T>A (p.Leu580Ile)
c.1918T>A (p.Leu640Ile)
c.1585T>A (p.Leu529Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.117591995T>CCA457448839CFTRc.1828T>C (p.Leu610=)
c.*1542T>C (n.*1542T>C)
c.1645T>C (p.Leu549=)
c.*128T>C (n.*128T>C)
c.*1652T>C (n.*1652T>C)
c.1402T>C (p.Leu468=)
c.1402-10831T>C (n.1402-10831T>C)
c.1738T>C (p.Leu580=)
c.1918T>C (p.Leu640=)
c.1585T>C (p.Leu529=)
 ClinVar
7g.117591995T>GCA368978224CFTRc.1828T>G (p.Leu610Val)
c.*1542T>G (n.*1542T>G)
c.1645T>G (p.Leu549Val)
c.*128T>G (n.*128T>G)
c.*1652T>G (n.*1652T>G)
c.1402T>G (p.Leu468Val)
c.1402-10831T>G (n.1402-10831T>G)
c.1738T>G (p.Leu580Val)
c.1918T>G (p.Leu640Val)
c.1585T>G (p.Leu529Val)
7g.117591995T=CA1737393957CFTRc.1828T= (p.Leu610=)
c.*1542T= (n.*1542T=)
c.1645T= (p.Leu549=)
c.*128T= (n.*128T=)
c.*1652T= (n.*1652T=)
c.1402T= (p.Leu468=)
c.1402-10831T= (n.1402-10831T=)
c.1738T= (p.Leu580=)
c.1918T= (p.Leu640=)
c.1585T= (p.Leu529=)
7g.117591996T>ACA368978227CFTRc.1829T>A (p.Leu610Ter)
c.*1543T>A (n.*1543T>A)
c.1646T>A (p.Leu549Ter)
c.*129T>A (n.*129T>A)
c.*1653T>A (n.*1653T>A)
c.1403T>A (p.Leu468Ter)
c.1402-10830T>A (n.1402-10830T>A)
c.1739T>A (p.Leu580Ter)
c.1919T>A (p.Leu640Ter)
c.1586T>A (p.Leu529Ter)
7g.117591996T>CCA326696CFTRc.1829T>C (p.Leu610Ser)
c.*1543T>C (n.*1543T>C)
c.1646T>C (p.Leu549Ser)
c.*129T>C (n.*129T>C)
c.*1653T>C (n.*1653T>C)
c.1403T>C (p.Leu468Ser)
c.1402-10830T>C (n.1402-10830T>C)
c.1739T>C (p.Leu580Ser)
c.1919T>C (p.Leu640Ser)
c.1586T>C (p.Leu529Ser)
 ClinVar dbSNP
7g.117591996T>GCA368978230CFTRc.1829T>G (p.Leu610Ter)
c.*1543T>G (n.*1543T>G)
c.1646T>G (p.Leu549Ter)
c.*129T>G (n.*129T>G)
c.*1653T>G (n.*1653T>G)
c.1403T>G (p.Leu468Ter)
c.1402-10830T>G (n.1402-10830T>G)
c.1739T>G (p.Leu580Ter)
c.1919T>G (p.Leu640Ter)
c.1586T>G (p.Leu529Ter)
7g.117591996T=CA1737393962CFTRc.1829T= (p.Leu610=)
c.*1543T= (n.*1543T=)
c.1646T= (p.Leu549=)
c.*129T= (n.*129T=)
c.*1653T= (n.*1653T=)
c.1403T= (p.Leu468=)
c.1402-10830T= (n.1402-10830T=)
c.1739T= (p.Leu580=)
c.1919T= (p.Leu640=)
c.1586T= (p.Leu529=)
7g.117591997A=CA1737393970CFTRc.1830A= (p.Leu610=)
c.*1544A= (n.*1544A=)
c.1647A= (p.Leu549=)
c.*130A= (n.*130A=)
c.*1654A= (n.*1654A=)
c.1404A= (p.Leu468=)
c.1402-10829A= (n.1402-10829A=)
c.1740A= (p.Leu580=)
c.1920A= (p.Leu640=)
c.1587A= (p.Leu529=)
7g.117591997A>CCA368978231CFTRc.1830A>C (p.Leu610Phe)
c.*1544A>C (n.*1544A>C)
c.1647A>C (p.Leu549Phe)
c.*130A>C (n.*130A>C)
c.*1654A>C (n.*1654A>C)
c.1404A>C (p.Leu468Phe)
c.1402-10829A>C (n.1402-10829A>C)
c.1740A>C (p.Leu580Phe)
c.1920A>C (p.Leu640Phe)
c.1587A>C (p.Leu529Phe)
 gnomAD v4
7g.117591997A>GCA164947489CFTRc.1830A>G (p.Leu610=)
c.*1544A>G (n.*1544A>G)
c.1647A>G (p.Leu549=)
c.*130A>G (n.*130A>G)
c.*1654A>G (n.*1654A>G)
c.1404A>G (p.Leu468=)
c.1402-10829A>G (n.1402-10829A>G)
c.1740A>G (p.Leu580=)
c.1920A>G (p.Leu640=)
c.1587A>G (p.Leu529=)
 dbSNP
7g.117591997A>TCA368978234CFTRc.1830A>T (p.Leu610Phe)
c.*1544A>T (n.*1544A>T)
c.1647A>T (p.Leu549Phe)
c.*130A>T (n.*130A>T)
c.*1654A>T (n.*1654A>T)
c.1404A>T (p.Leu468Phe)
c.1402-10829A>T (n.1402-10829A>T)
c.1740A>T (p.Leu580Phe)
c.1920A>T (p.Leu640Phe)
c.1587A>T (p.Leu529Phe)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.117591998A=CA1737393975CFTRc.1831A= (p.Lys611=)
c.*1545A= (n.*1545A=)
c.1648A= (p.Lys550=)
c.*131A= (n.*131A=)
c.*1655A= (n.*1655A=)
c.1405A= (p.Lys469=)
c.1402-10828A= (n.1402-10828A=)
c.1741A= (p.Lys581=)
c.1921A= (p.Lys641=)
c.1588A= (p.Lys530=)
7g.117591998A>CCA368978236CFTRc.1831A>C (p.Lys611Gln)
c.*1545A>C (n.*1545A>C)
c.1648A>C (p.Lys550Gln)
c.*131A>C (n.*131A>C)
c.*1655A>C (n.*1655A>C)
c.1405A>C (p.Lys469Gln)
c.1402-10828A>C (n.1402-10828A>C)
c.1741A>C (p.Lys581Gln)
c.1921A>C (p.Lys641Gln)
c.1588A>C (p.Lys530Gln)
7g.117591998A>GCA368978237CFTRc.1831A>G (p.Lys611Glu)
c.*1545A>G (n.*1545A>G)
c.1648A>G (p.Lys550Glu)
c.*131A>G (n.*131A>G)
c.*1655A>G (n.*1655A>G)
c.1405A>G (p.Lys469Glu)
c.1402-10828A>G (n.1402-10828A>G)
c.1741A>G (p.Lys581Glu)
c.1921A>G (p.Lys641Glu)
c.1588A>G (p.Lys530Glu)
7g.117591998A>TCA368978238CFTRc.1831A>T (p.Lys611Ter)
c.*1545A>T (n.*1545A>T)
c.1648A>T (p.Lys550Ter)
c.*131A>T (n.*131A>T)
c.*1655A>T (n.*1655A>T)
c.1405A>T (p.Lys469Ter)
c.1402-10828A>T (n.1402-10828A>T)
c.1741A>T (p.Lys581Ter)
c.1921A>T (p.Lys641Ter)
c.1588A>T (p.Lys530Ter)
 dbSNP gnomAD v2 COSMIC
7g.117591999A>CCA368978241CFTRc.1832A>C (p.Lys611Thr)
c.*1546A>C (n.*1546A>C)
c.1649A>C (p.Lys550Thr)
c.*132A>C (n.*132A>C)
c.*1656A>C (n.*1656A>C)
c.1406A>C (p.Lys469Thr)
c.1402-10827A>C (n.1402-10827A>C)
c.1742A>C (p.Lys581Thr)
c.1922A>C (p.Lys641Thr)
c.1589A>C (p.Lys530Thr)
7g.117591999A>GCA368978250CFTRc.1832A>G (p.Lys611Arg)
c.*1546A>G (n.*1546A>G)
c.1649A>G (p.Lys550Arg)
c.*132A>G (n.*132A>G)
c.*1656A>G (n.*1656A>G)
c.1406A>G (p.Lys469Arg)
c.1402-10827A>G (n.1402-10827A>G)
c.1742A>G (p.Lys581Arg)
c.1922A>G (p.Lys641Arg)
c.1589A>G (p.Lys530Arg)
7g.117591999A>TCA368978244CFTRc.1832A>T (p.Lys611Met)
c.*1546A>T (n.*1546A>T)
c.1649A>T (p.Lys550Met)
c.*132A>T (n.*132A>T)
c.*1656A>T (n.*1656A>T)
c.1406A>T (p.Lys469Met)
c.1402-10827A>T (n.1402-10827A>T)
c.1742A>T (p.Lys581Met)
c.1922A>T (p.Lys641Met)
c.1589A>T (p.Lys530Met)
7g.117592000G>ACA457448840CFTRc.1833G>A (p.Lys611=)
c.*1547G>A (n.*1547G>A)
c.1650G>A (p.Lys550=)
c.*133G>A (n.*133G>A)
c.*1657G>A (n.*1657G>A)
c.1407G>A (p.Lys469=)
c.1402-10826G>A (n.1402-10826G>A)
c.1743G>A (p.Lys581=)
c.1923G>A (p.Lys641=)
c.1590G>A (p.Lys530=)
 gnomAD v4
7g.117592000G>CCA368978254CFTRc.1833G>C (p.Lys611Asn)
c.*1547G>C (n.*1547G>C)
c.1650G>C (p.Lys550Asn)
c.*133G>C (n.*133G>C)
c.*1657G>C (n.*1657G>C)
c.1407G>C (p.Lys469Asn)
c.1402-10826G>C (n.1402-10826G>C)
c.1743G>C (p.Lys581Asn)
c.1923G>C (p.Lys641Asn)
c.1590G>C (p.Lys530Asn)
 COSMIC
7g.117592000G>TCA368978256CFTRc.1833G>T (p.Lys611Asn)
c.*1547G>T (n.*1547G>T)
c.1650G>T (p.Lys550Asn)
c.*133G>T (n.*133G>T)
c.*1657G>T (n.*1657G>T)
c.1407G>T (p.Lys469Asn)
c.1402-10826G>T (n.1402-10826G>T)
c.1743G>T (p.Lys581Asn)
c.1923G>T (p.Lys641Asn)
c.1590G>T (p.Lys530Asn)
7g.117592001A>CCA368978262CFTRc.1834A>C (p.Lys612Gln)
c.*1548A>C (n.*1548A>C)
c.1651A>C (p.Lys551Gln)
c.*134A>C (n.*134A>C)
c.*1658A>C (n.*1658A>C)
c.1408A>C (p.Lys470Gln)
c.1402-10825A>C (n.1402-10825A>C)
c.1744A>C (p.Lys582Gln)
c.1924A>C (p.Lys642Gln)
c.1591A>C (p.Lys531Gln)
7g.117592001A>GCA368978265CFTRc.1834A>G (p.Lys612Glu)
c.*1548A>G (n.*1548A>G)
c.1651A>G (p.Lys551Glu)
c.*134A>G (n.*134A>G)
c.*1658A>G (n.*1658A>G)
c.1408A>G (p.Lys470Glu)
c.1402-10825A>G (n.1402-10825A>G)
c.1744A>G (p.Lys582Glu)
c.1924A>G (p.Lys642Glu)
c.1591A>G (p.Lys531Glu)
7g.117592001A>TCA368978268CFTRc.1834A>T (p.Lys612Ter)
c.*1548A>T (n.*1548A>T)
c.1651A>T (p.Lys551Ter)
c.*134A>T (n.*134A>T)
c.*1658A>T (n.*1658A>T)
c.1408A>T (p.Lys470Ter)
c.1402-10825A>T (n.1402-10825A>T)
c.1744A>T (p.Lys582Ter)
c.1924A>T (p.Lys642Ter)
c.1591A>T (p.Lys531Ter)
7g.117592002A>CCA368978269CFTRc.1835A>C (p.Lys612Thr)
c.*1549A>C (n.*1549A>C)
c.1652A>C (p.Lys551Thr)
c.*135A>C (n.*135A>C)
c.*1659A>C (n.*1659A>C)
c.1409A>C (p.Lys470Thr)
c.1402-10824A>C (n.1402-10824A>C)
c.1745A>C (p.Lys582Thr)
c.1925A>C (p.Lys642Thr)
c.1592A>C (p.Lys531Thr)
7g.117592002A>GCA368978270CFTRc.1835A>G (p.Lys612Arg)
c.*1549A>G (n.*1549A>G)
c.1652A>G (p.Lys551Arg)
c.*135A>G (n.*135A>G)
c.*1659A>G (n.*1659A>G)
c.1409A>G (p.Lys470Arg)
c.1402-10824A>G (n.1402-10824A>G)
c.1745A>G (p.Lys582Arg)
c.1925A>G (p.Lys642Arg)
c.1592A>G (p.Lys531Arg)
7g.117592002A>TCA368978272CFTRc.1835A>T (p.Lys612Ile)
c.*1549A>T (n.*1549A>T)
c.1652A>T (p.Lys551Ile)
c.*135A>T (n.*135A>T)
c.*1659A>T (n.*1659A>T)
c.1409A>T (p.Lys470Ile)
c.1402-10824A>T (n.1402-10824A>T)
c.1745A>T (p.Lys582Ile)
c.1925A>T (p.Lys642Ile)
c.1592A>T (p.Lys531Ile)
7g.117592003A>CCA368978278CFTRc.1836A>C (p.Lys612Asn)
c.*1550A>C (n.*1550A>C)
c.1653A>C (p.Lys551Asn)
c.*136A>C (n.*136A>C)
c.*1660A>C (n.*1660A>C)
c.1410A>C (p.Lys470Asn)
c.1402-10823A>C (n.1402-10823A>C)
c.1746A>C (p.Lys582Asn)
c.1926A>C (p.Lys642Asn)
c.1593A>C (p.Lys531Asn)
7g.117592003A>GCA457448841CFTRc.1836A>G (p.Lys612=)
c.*1550A>G (n.*1550A>G)
c.1653A>G (p.Lys551=)
c.*136A>G (n.*136A>G)
c.*1660A>G (n.*1660A>G)
c.1410A>G (p.Lys470=)
c.1402-10823A>G (n.1402-10823A>G)
c.1746A>G (p.Lys582=)
c.1926A>G (p.Lys642=)
c.1593A>G (p.Lys531=)
7g.117592003A>TCA368978275CFTRc.1836A>T (p.Lys612Asn)
c.*1550A>T (n.*1550A>T)
c.1653A>T (p.Lys551Asn)
c.*136A>T (n.*136A>T)
c.*1660A>T (n.*1660A>T)
c.1410A>T (p.Lys470Asn)
c.1402-10823A>T (n.1402-10823A>T)
c.1746A>T (p.Lys582Asn)
c.1926A>T (p.Lys642Asn)
c.1593A>T (p.Lys531Asn)
7g.117592004G>ACA326697CFTRc.1837G>A (p.Ala613Thr)
c.*1551G>A (n.*1551G>A)
c.1654G>A (p.Ala552Thr)
c.*137G>A (n.*137G>A)
c.*1661G>A (n.*1661G>A)
c.1411G>A (p.Ala471Thr)
c.1402-10822G>A (n.1402-10822G>A)
c.1747G>A (p.Ala583Thr)
c.1927G>A (p.Ala643Thr)
c.1594G>A (p.Ala532Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.117592004G>CCA368978283CFTRc.1837G>C (p.Ala613Pro)
c.*1551G>C (n.*1551G>C)
c.1654G>C (p.Ala552Pro)
c.*137G>C (n.*137G>C)
c.*1661G>C (n.*1661G>C)
c.1411G>C (p.Ala471Pro)
c.1402-10822G>C (n.1402-10822G>C)
c.1747G>C (p.Ala583Pro)
c.1927G>C (p.Ala643Pro)
c.1594G>C (p.Ala532Pro)
7g.117592004G=CA1737393982CFTRc.1837G= (p.Ala613=)
c.*1551G= (n.*1551G=)
c.1654G= (p.Ala552=)
c.*137G= (n.*137G=)
c.*1661G= (n.*1661G=)
c.1411G= (p.Ala471=)
c.1402-10822G= (n.1402-10822G=)
c.1747G= (p.Ala583=)
c.1927G= (p.Ala643=)
c.1594G= (p.Ala532=)
7g.117592004G>TCA368978285CFTRc.1837G>T (p.Ala613Ser)
c.*1551G>T (n.*1551G>T)
c.1654G>T (p.Ala552Ser)
c.*137G>T (n.*137G>T)
c.*1661G>T (n.*1661G>T)
c.1411G>T (p.Ala471Ser)
c.1402-10822G>T (n.1402-10822G>T)
c.1747G>T (p.Ala583Ser)
c.1927G>T (p.Ala643Ser)
c.1594G>T (p.Ala532Ser)
7g.117592005C>ACA368978287CFTRc.1838C>A (p.Ala613Asp)
c.*1552C>A (n.*1552C>A)
c.1655C>A (p.Ala552Asp)
c.*138C>A (n.*138C>A)
c.*1662C>A (n.*1662C>A)
c.1412C>A (p.Ala471Asp)
c.1402-10821C>A (n.1402-10821C>A)
c.1748C>A (p.Ala583Asp)
c.1928C>A (p.Ala643Asp)
c.1595C>A (p.Ala532Asp)
 gnomAD v4
7g.117592005C>GCA368978290CFTRc.1838C>G (p.Ala613Gly)
c.*1552C>G (n.*1552C>G)
c.1655C>G (p.Ala552Gly)
c.*138C>G (n.*138C>G)
c.*1662C>G (n.*1662C>G)
c.1412C>G (p.Ala471Gly)
c.1402-10821C>G (n.1402-10821C>G)
c.1748C>G (p.Ala583Gly)
c.1928C>G (p.Ala643Gly)
c.1595C>G (p.Ala532Gly)
7g.117592005C>TCA368978297CFTRc.1838C>T (p.Ala613Val)
c.*1552C>T (n.*1552C>T)
c.1655C>T (p.Ala552Val)
c.*138C>T (n.*138C>T)
c.*1662C>T (n.*1662C>T)
c.1412C>T (p.Ala471Val)
c.1402-10821C>T (n.1402-10821C>T)
c.1748C>T (p.Ala583Val)
c.1928C>T (p.Ala643Val)
c.1595C>T (p.Ala532Val)
7g.117592006T>ACA457448842CFTRc.1839T>A (p.Ala613=)
c.*1553T>A (n.*1553T>A)
c.1656T>A (p.Ala552=)
c.*139T>A (n.*139T>A)
c.*1663T>A (n.*1663T>A)
c.1413T>A (p.Ala471=)
c.1402-10820T>A (n.1402-10820T>A)
c.1749T>A (p.Ala583=)
c.1929T>A (p.Ala643=)
c.1596T>A (p.Ala532=)
7g.117592006T>CCA457448843CFTRc.1839T>C (p.Ala613=)
c.*1553T>C (n.*1553T>C)
c.1656T>C (p.Ala552=)
c.*139T>C (n.*139T>C)
c.*1663T>C (n.*1663T>C)
c.1413T>C (p.Ala471=)
c.1402-10820T>C (n.1402-10820T>C)
c.1749T>C (p.Ala583=)
c.1929T>C (p.Ala643=)
c.1596T>C (p.Ala532=)
7g.117592006T>GCA457448844CFTRc.1839T>G (p.Ala613=)
c.*1553T>G (n.*1553T>G)
c.1656T>G (p.Ala552=)
c.*139T>G (n.*139T>G)
c.*1663T>G (n.*1663T>G)
c.1413T>G (p.Ala471=)
c.1402-10820T>G (n.1402-10820T>G)
c.1749T>G (p.Ala583=)
c.1929T>G (p.Ala643=)
c.1596T>G (p.Ala532=)
7g.117592007G>ACA368978302CFTRc.1840G>A (p.Asp614Asn)
c.*1554G>A (n.*1554G>A)
c.1657G>A (p.Asp553Asn)
c.*140G>A (n.*140G>A)
c.*1664G>A (n.*1664G>A)
c.1414G>A (p.Asp472Asn)
c.1402-10819G>A (n.1402-10819G>A)
c.1750G>A (p.Asp584Asn)
c.1930G>A (p.Asp644Asn)
c.1597G>A (p.Asp533Asn)
 ClinVar dbSNP
7g.117592007G>CCA368978308CFTRc.1840G>C (p.Asp614His)
c.*1554G>C (n.*1554G>C)
c.1657G>C (p.Asp553His)
c.*140G>C (n.*140G>C)
c.*1664G>C (n.*1664G>C)
c.1414G>C (p.Asp472His)
c.1402-10819G>C (n.1402-10819G>C)
c.1750G>C (p.Asp584His)
c.1930G>C (p.Asp644His)
c.1597G>C (p.Asp533His)
7g.117592007G=CA1737393991CFTRc.1840G= (p.Asp614=)
c.*1554G= (n.*1554G=)
c.1657G= (p.Asp553=)
c.*140G= (n.*140G=)
c.*1664G= (n.*1664G=)
c.1414G= (p.Asp472=)
c.1402-10819G= (n.1402-10819G=)
c.1750G= (p.Asp584=)
c.1930G= (p.Asp644=)
c.1597G= (p.Asp533=)
7g.117592007G>TCA326698CFTRc.1840G>T (p.Asp614Tyr)
c.*1554G>T (n.*1554G>T)
c.1657G>T (p.Asp553Tyr)
c.*140G>T (n.*140G>T)
c.*1664G>T (n.*1664G>T)
c.1414G>T (p.Asp472Tyr)
c.1402-10819G>T (n.1402-10819G>T)
c.1750G>T (p.Asp584Tyr)
c.1930G>T (p.Asp644Tyr)
c.1597G>T (p.Asp533Tyr)
 dbSNP gnomAD v4
7g.117592008A=CA1737393996CFTRc.1841A= (p.Asp614=)
c.*1555A= (n.*1555A=)
c.1658A= (p.Asp553=)
c.*141A= (n.*141A=)
c.*1665A= (n.*1665A=)
c.1415A= (p.Asp472=)
c.1402-10818A= (n.1402-10818A=)
c.1751A= (p.Asp584=)
c.1931A= (p.Asp644=)
c.1598A= (p.Asp533=)
7g.117592008A>CCA368978314CFTRc.1841A>C (p.Asp614Ala)
c.*1555A>C (n.*1555A>C)
c.1658A>C (p.Asp553Ala)
c.*141A>C (n.*141A>C)
c.*1665A>C (n.*1665A>C)
c.1415A>C (p.Asp472Ala)
c.1402-10818A>C (n.1402-10818A>C)
c.1751A>C (p.Asp584Ala)
c.1931A>C (p.Asp644Ala)
c.1598A>C (p.Asp533Ala)
7g.117592008A>GCA326700CFTRc.1841A>G (p.Asp614Gly)
c.*1555A>G (n.*1555A>G)
c.1658A>G (p.Asp553Gly)
c.*141A>G (n.*141A>G)
c.*1665A>G (n.*1665A>G)
c.1415A>G (p.Asp472Gly)
c.1402-10818A>G (n.1402-10818A>G)
c.1751A>G (p.Asp584Gly)
c.1931A>G (p.Asp644Gly)
c.1598A>G (p.Asp533Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117592008A>TCA368978322CFTRc.1841A>T (p.Asp614Val)
c.*1555A>T (n.*1555A>T)
c.1658A>T (p.Asp553Val)
c.*141A>T (n.*141A>T)
c.*1665A>T (n.*1665A>T)
c.1415A>T (p.Asp472Val)
c.1402-10818A>T (n.1402-10818A>T)
c.1751A>T (p.Asp584Val)
c.1931A>T (p.Asp644Val)
c.1598A>T (p.Asp533Val)
7g.117592009C>ACA368978339CFTRc.1842C>A (p.Asp614Glu)
c.*1556C>A (n.*1556C>A)
c.1659C>A (p.Asp553Glu)
c.*142C>A (n.*142C>A)
c.*1666C>A (n.*1666C>A)
c.1416C>A (p.Asp472Glu)
c.1402-10817C>A (n.1402-10817C>A)
c.1752C>A (p.Asp584Glu)
c.1932C>A (p.Asp644Glu)
c.1599C>A (p.Asp533Glu)
 ClinVar
7g.117592009C>GCA368978346CFTRc.1842C>G (p.Asp614Glu)
c.*1556C>G (n.*1556C>G)
c.1659C>G (p.Asp553Glu)
c.*142C>G (n.*142C>G)
c.*1666C>G (n.*1666C>G)
c.1416C>G (p.Asp472Glu)
c.1402-10817C>G (n.1402-10817C>G)
c.1752C>G (p.Asp584Glu)
c.1932C>G (p.Asp644Glu)
c.1599C>G (p.Asp533Glu)
7g.117592009C>TCA457448845CFTRc.1842C>T (p.Asp614=)
c.*1556C>T (n.*1556C>T)
c.1659C>T (p.Asp553=)
c.*142C>T (n.*142C>T)
c.*1666C>T (n.*1666C>T)
c.1416C>T (p.Asp472=)
c.1402-10817C>T (n.1402-10817C>T)
c.1752C>T (p.Asp584=)
c.1932C>T (p.Asp644=)
c.1599C>T (p.Asp533=)
7g.117592010A>CCA368978352CFTRc.1843A>C (p.Lys615Gln)
c.*1557A>C (n.*1557A>C)
c.1660A>C (p.Lys554Gln)
c.*143A>C (n.*143A>C)
c.*1667A>C (n.*1667A>C)
c.1417A>C (p.Lys473Gln)
c.1402-10816A>C (n.1402-10816A>C)
c.1753A>C (p.Lys585Gln)
c.1933A>C (p.Lys645Gln)
c.1600A>C (p.Lys534Gln)
7g.117592010A>GCA368978357CFTRc.1843A>G (p.Lys615Glu)
c.*1557A>G (n.*1557A>G)
c.1660A>G (p.Lys554Glu)
c.*143A>G (n.*143A>G)
c.*1667A>G (n.*1667A>G)
c.1417A>G (p.Lys473Glu)
c.1402-10816A>G (n.1402-10816A>G)
c.1753A>G (p.Lys585Glu)
c.1933A>G (p.Lys645Glu)
c.1600A>G (p.Lys534Glu)
7g.117592010A>TCA368978358CFTRc.1843A>T (p.Lys615Ter)
c.*1557A>T (n.*1557A>T)
c.1660A>T (p.Lys554Ter)
c.*143A>T (n.*143A>T)
c.*1667A>T (n.*1667A>T)
c.1417A>T (p.Lys473Ter)
c.1402-10816A>T (n.1402-10816A>T)
c.1753A>T (p.Lys585Ter)
c.1933A>T (p.Lys645Ter)
c.1600A>T (p.Lys534Ter)
7g.117592011A>CCA368978361CFTRc.1844A>C (p.Lys615Thr)
c.*1558A>C (n.*1558A>C)
c.1661A>C (p.Lys554Thr)
c.*144A>C (n.*144A>C)
c.*1668A>C (n.*1668A>C)
c.1418A>C (p.Lys473Thr)
c.1402-10815A>C (n.1402-10815A>C)
c.1754A>C (p.Lys585Thr)
c.1934A>C (p.Lys645Thr)
c.1601A>C (p.Lys534Thr)
 gnomAD v4
7g.117592011A>GCA368978363CFTRc.1844A>G (p.Lys615Arg)
c.*1558A>G (n.*1558A>G)
c.1661A>G (p.Lys554Arg)
c.*144A>G (n.*144A>G)
c.*1668A>G (n.*1668A>G)
c.1418A>G (p.Lys473Arg)
c.1402-10815A>G (n.1402-10815A>G)
c.1754A>G (p.Lys585Arg)
c.1934A>G (p.Lys645Arg)
c.1601A>G (p.Lys534Arg)
 ClinVar
7g.117592011A>TCA368978367CFTRc.1844A>T (p.Lys615Ile)
c.*1558A>T (n.*1558A>T)
c.1661A>T (p.Lys554Ile)
c.*144A>T (n.*144A>T)
c.*1668A>T (n.*1668A>T)
c.1418A>T (p.Lys473Ile)
c.1402-10815A>T (n.1402-10815A>T)
c.1754A>T (p.Lys585Ile)
c.1934A>T (p.Lys645Ile)
c.1601A>T (p.Lys534Ile)
7g.117592012A=CA1737394002CFTRc.1845A= (p.Lys615=)
c.*1559A= (n.*1559A=)
c.1662A= (p.Lys554=)
c.*145A= (n.*145A=)
c.*1669A= (n.*1669A=)
c.1419A= (p.Lys473=)
c.1402-10814A= (n.1402-10814A=)
c.1755A= (p.Lys585=)
c.1935A= (p.Lys645=)
c.1602A= (p.Lys534=)
7g.117592012A>CCA368978369CFTRc.1845A>C (p.Lys615Asn)
c.*1559A>C (n.*1559A>C)
c.1662A>C (p.Lys554Asn)
c.*145A>C (n.*145A>C)
c.*1669A>C (n.*1669A>C)
c.1419A>C (p.Lys473Asn)
c.1402-10814A>C (n.1402-10814A>C)
c.1755A>C (p.Lys585Asn)
c.1935A>C (p.Lys645Asn)
c.1602A>C (p.Lys534Asn)
7g.117592012A>GCA457448846CFTRc.1845A>G (p.Lys615=)
c.*1559A>G (n.*1559A>G)
c.1662A>G (p.Lys554=)
c.*145A>G (n.*145A>G)
c.*1669A>G (n.*1669A>G)
c.1419A>G (p.Lys473=)
c.1402-10814A>G (n.1402-10814A>G)
c.1755A>G (p.Lys585=)
c.1935A>G (p.Lys645=)
c.1602A>G (p.Lys534=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
7g.117592012A>TCA368978372CFTRc.1845A>T (p.Lys615Asn)
c.*1559A>T (n.*1559A>T)
c.1662A>T (p.Lys554Asn)
c.*145A>T (n.*145A>T)
c.*1669A>T (n.*1669A>T)
c.1419A>T (p.Lys473Asn)
c.1402-10814A>T (n.1402-10814A>T)
c.1755A>T (p.Lys585Asn)
c.1935A>T (p.Lys645Asn)
c.1602A>T (p.Lys534Asn)
7g.117592013A=CA1737394007CFTRc.1846A= (p.Ile616=)
c.*1560A= (n.*1560A=)
c.1663A= (p.Ile555=)
c.*146A= (n.*146A=)
c.*1670A= (n.*1670A=)
c.1420A= (p.Ile474=)
c.1402-10813A= (n.1402-10813A=)
c.1756A= (p.Ile586=)
c.1936A= (p.Ile646=)
c.1603A= (p.Ile535=)
7g.117592013A>CCA368978375CFTRc.1846A>C (p.Ile616Leu)
c.*1560A>C (n.*1560A>C)
c.1663A>C (p.Ile555Leu)
c.*146A>C (n.*146A>C)
c.*1670A>C (n.*1670A>C)
c.1420A>C (p.Ile474Leu)
c.1402-10813A>C (n.1402-10813A>C)
c.1756A>C (p.Ile586Leu)
c.1936A>C (p.Ile646Leu)
c.1603A>C (p.Ile535Leu)
7g.117592013A>GCA4451104CFTRc.1846A>G (p.Ile616Val)
c.*1560A>G (n.*1560A>G)
c.1663A>G (p.Ile555Val)
c.*146A>G (n.*146A>G)
c.*1670A>G (n.*1670A>G)
c.1420A>G (p.Ile474Val)
c.1402-10813A>G (n.1402-10813A>G)
c.1756A>G (p.Ile586Val)
c.1936A>G (p.Ile646Val)
c.1603A>G (p.Ile535Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.117592013A>TCA368978380CFTRc.1846A>T (p.Ile616Leu)
c.*1560A>T (n.*1560A>T)
c.1663A>T (p.Ile555Leu)
c.*146A>T (n.*146A>T)
c.*1670A>T (n.*1670A>T)
c.1420A>T (p.Ile474Leu)
c.1402-10813A>T (n.1402-10813A>T)
c.1756A>T (p.Ile586Leu)
c.1936A>T (p.Ile646Leu)
c.1603A>T (p.Ile535Leu)
7g.117592014T>ACA368978385CFTRc.1847T>A (p.Ile616Lys)
c.*1561T>A (n.*1561T>A)
c.1664T>A (p.Ile555Lys)
c.*147T>A (n.*147T>A)
c.*1671T>A (n.*1671T>A)
c.1421T>A (p.Ile474Lys)
c.1402-10812T>A (n.1402-10812T>A)
c.1757T>A (p.Ile586Lys)
c.1937T>A (p.Ile646Lys)
c.1604T>A (p.Ile535Lys)
7g.117592014T>CCA368978389CFTRc.1847T>C (p.Ile616Thr)
c.*1561T>C (n.*1561T>C)
c.1664T>C (p.Ile555Thr)
c.*147T>C (n.*147T>C)
c.*1671T>C (n.*1671T>C)
c.1421T>C (p.Ile474Thr)
c.1402-10812T>C (n.1402-10812T>C)
c.1757T>C (p.Ile586Thr)
c.1937T>C (p.Ile646Thr)
c.1604T>C (p.Ile535Thr)
 gnomAD v4
7g.117592014T>GCA368978391CFTRc.1847T>G (p.Ile616Arg)
c.*1561T>G (n.*1561T>G)
c.1664T>G (p.Ile555Arg)
c.*147T>G (n.*147T>G)
c.*1671T>G (n.*1671T>G)
c.1421T>G (p.Ile474Arg)
c.1402-10812T>G (n.1402-10812T>G)
c.1757T>G (p.Ile586Arg)
c.1937T>G (p.Ile646Arg)
c.1604T>G (p.Ile535Arg)
7g.117592016_117592018delCA2580076501CFTRc.1849_1851del (p.Leu617del)
c.*1563_*1565del (n.*1563_*1565del)
c.1666_1668del (p.Leu556del)
c.*149_*151del (n.*149_*151del)
c.*1673_*1675del (n.*1673_*1675del)
c.1423_1425del (p.Leu475del)
c.1402-10810_1402-10808del (n.1402-10810_1402-10808del)
c.1759_1761del (p.Leu587del)
c.1939_1941del (p.Leu647del)
c.1606_1608del (p.Leu536del)
 ClinVar
7g.117592015A>CCA457448847CFTRc.1848A>C (p.Ile616=)
c.*1562A>C (n.*1562A>C)
c.1665A>C (p.Ile555=)
c.*148A>C (n.*148A>C)
c.*1672A>C (n.*1672A>C)
c.1422A>C (p.Ile474=)
c.1402-10811A>C (n.1402-10811A>C)
c.1758A>C (p.Ile586=)
c.1938A>C (p.Ile646=)
c.1605A>C (p.Ile535=)
7g.117592015A>GCA368978394CFTRc.1848A>G (p.Ile616Met)
c.*1562A>G (n.*1562A>G)
c.1665A>G (p.Ile555Met)
c.*148A>G (n.*148A>G)
c.*1672A>G (n.*1672A>G)
c.1422A>G (p.Ile474Met)
c.1402-10811A>G (n.1402-10811A>G)
c.1758A>G (p.Ile586Met)
c.1938A>G (p.Ile646Met)
c.1605A>G (p.Ile535Met)
 ClinVar
7g.117592015A>TCA457448848CFTRc.1848A>T (p.Ile616=)
c.*1562A>T (n.*1562A>T)
c.1665A>T (p.Ile555=)
c.*148A>T (n.*148A>T)
c.*1672A>T (n.*1672A>T)
c.1422A>T (p.Ile474=)
c.1402-10811A>T (n.1402-10811A>T)
c.1758A>T (p.Ile586=)
c.1938A>T (p.Ile646=)
c.1605A>T (p.Ile535=)
7g.117592016T>ACA368978404CFTRc.1849T>A (p.Leu617Ile)
c.*1563T>A (n.*1563T>A)
c.1666T>A (p.Leu556Ile)
c.*149T>A (n.*149T>A)
c.*1673T>A (n.*1673T>A)
c.1423T>A (p.Leu475Ile)
c.1402-10810T>A (n.1402-10810T>A)
c.1759T>A (p.Leu587Ile)
c.1939T>A (p.Leu647Ile)
c.1606T>A (p.Leu536Ile)
7g.117592016T>CCA457448849CFTRc.1849T>C (p.Leu617=)
c.*1563T>C (n.*1563T>C)
c.1666T>C (p.Leu556=)
c.*149T>C (n.*149T>C)
c.*1673T>C (n.*1673T>C)
c.1423T>C (p.Leu475=)
c.1402-10810T>C (n.1402-10810T>C)
c.1759T>C (p.Leu587=)
c.1939T>C (p.Leu647=)
c.1606T>C (p.Leu536=)
7g.117592016T>GCA368978407CFTRc.1849T>G (p.Leu617Val)
c.*1563T>G (n.*1563T>G)
c.1666T>G (p.Leu556Val)
c.*149T>G (n.*149T>G)
c.*1673T>G (n.*1673T>G)
c.1423T>G (p.Leu475Val)
c.1402-10810T>G (n.1402-10810T>G)
c.1759T>G (p.Leu587Val)
c.1939T>G (p.Leu647Val)
c.1606T>G (p.Leu536Val)
7g.117592017T>ACA368978411CFTRc.1850T>A (p.Leu617Ter)
c.*1564T>A (n.*1564T>A)
c.1667T>A (p.Leu556Ter)
c.*150T>A (n.*150T>A)
c.*1674T>A (n.*1674T>A)
c.1424T>A (p.Leu475Ter)
c.1402-10809T>A (n.1402-10809T>A)
c.1760T>A (p.Leu587Ter)
c.1940T>A (p.Leu647Ter)
c.1607T>A (p.Leu536Ter)
7g.117592017T>CCA368978413CFTRc.1850T>C (p.Leu617Ser)
c.*1564T>C (n.*1564T>C)
c.1667T>C (p.Leu556Ser)
c.*150T>C (n.*150T>C)
c.*1674T>C (n.*1674T>C)
c.1424T>C (p.Leu475Ser)
c.1402-10809T>C (n.1402-10809T>C)
c.1760T>C (p.Leu587Ser)
c.1940T>C (p.Leu647Ser)
c.1607T>C (p.Leu536Ser)
7g.117592017T>GCA368978414CFTRc.1850T>G (p.Leu617Ter)
c.*1564T>G (n.*1564T>G)
c.1667T>G (p.Leu556Ter)
c.*150T>G (n.*150T>G)
c.*1674T>G (n.*1674T>G)
c.1424T>G (p.Leu475Ter)
c.1402-10809T>G (n.1402-10809T>G)
c.1760T>G (p.Leu587Ter)
c.1940T>G (p.Leu647Ter)
c.1607T>G (p.Leu536Ter)
7g.117592018A=CA1737394009CFTRc.1851A= (p.Leu617=)
c.*1565A= (n.*1565A=)
c.1668A= (p.Leu556=)
c.*151A= (n.*151A=)
c.*1675A= (n.*1675A=)
c.1425A= (p.Leu475=)
c.1402-10808A= (n.1402-10808A=)
c.1761A= (p.Leu587=)
c.1941A= (p.Leu647=)
c.1608A= (p.Leu536=)
7g.117592018A>CCA368978418CFTRc.1851A>C (p.Leu617Phe)
c.*1565A>C (n.*1565A>C)
c.1668A>C (p.Leu556Phe)
c.*151A>C (n.*151A>C)
c.*1675A>C (n.*1675A>C)
c.1425A>C (p.Leu475Phe)
c.1402-10808A>C (n.1402-10808A>C)
c.1761A>C (p.Leu587Phe)
c.1941A>C (p.Leu647Phe)
c.1608A>C (p.Leu536Phe)
7g.117592018A>GCA457448850CFTRc.1851A>G (p.Leu617=)
c.*1565A>G (n.*1565A>G)
c.1668A>G (p.Leu556=)
c.*151A>G (n.*151A>G)
c.*1675A>G (n.*1675A>G)
c.1425A>G (p.Leu475=)
c.1402-10808A>G (n.1402-10808A>G)
c.1761A>G (p.Leu587=)
c.1941A>G (p.Leu647=)
c.1608A>G (p.Leu536=)
7g.117592018A>TCA4451105CFTRc.1851A>T (p.Leu617Phe)
c.*1565A>T (n.*1565A>T)
c.1668A>T (p.Leu556Phe)
c.*151A>T (n.*151A>T)
c.*1675A>T (n.*1675A>T)
c.1425A>T (p.Leu475Phe)
c.1402-10808A>T (n.1402-10808A>T)
c.1761A>T (p.Leu587Phe)
c.1941A>T (p.Leu647Phe)
c.1608A>T (p.Leu536Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.117592020_117592030delCA2695208503CFTRc.1853_1863del (p.Ile618ArgfsTer2)
c.*1567_*1577del (n.*1567_*1577del)
c.1670_1680del (p.Ile557ArgfsTer2)
c.*153_*163del (n.*153_*163del)
c.*1677_*1687del (n.*1677_*1687del)
c.1427_1437del (p.Ile476ArgfsTer2)
c.1402-10806_1402-10796del (n.1402-10806_1402-10796del)
c.1763_1773del (p.Ile588ArgfsTer2)
c.1943_1953del (p.Ile648ArgfsTer2)
c.1610_1620del (p.Ile537ArgfsTer2)
7g.117592019A=CA1737394013CFTRc.1852A= (p.Ile618=)
c.*1566A= (n.*1566A=)
c.1669A= (p.Ile557=)
c.*152A= (n.*152A=)
c.*1676A= (n.*1676A=)
c.1426A= (p.Ile476=)
c.1402-10807A= (n.1402-10807A=)
c.1762A= (p.Ile588=)
c.1942A= (p.Ile648=)
c.1609A= (p.Ile537=)
7g.117592019A>CCA368978426CFTRc.1852A>C (p.Ile618Leu)
c.*1566A>C (n.*1566A>C)
c.1669A>C (p.Ile557Leu)
c.*152A>C (n.*152A>C)
c.*1676A>C (n.*1676A>C)
c.1426A>C (p.Ile476Leu)
c.1402-10807A>C (n.1402-10807A>C)
c.1762A>C (p.Ile588Leu)
c.1942A>C (p.Ile648Leu)
c.1609A>C (p.Ile537Leu)
7g.117592019A>GCA368978430CFTRc.1852A>G (p.Ile618Val)
c.*1566A>G (n.*1566A>G)
c.1669A>G (p.Ile557Val)
c.*152A>G (n.*152A>G)
c.*1676A>G (n.*1676A>G)
c.1426A>G (p.Ile476Val)
c.1402-10807A>G (n.1402-10807A>G)
c.1762A>G (p.Ile588Val)
c.1942A>G (p.Ile648Val)
c.1609A>G (p.Ile537Val)
 dbSNP
7g.117592019A>TCA368978428CFTRc.1852A>T (p.Ile618Phe)
c.*1566A>T (n.*1566A>T)
c.1669A>T (p.Ile557Phe)
c.*152A>T (n.*152A>T)
c.*1676A>T (n.*1676A>T)
c.1426A>T (p.Ile476Phe)
c.1402-10807A>T (n.1402-10807A>T)
c.1762A>T (p.Ile588Phe)
c.1942A>T (p.Ile648Phe)
c.1609A>T (p.Ile537Phe)
7g.117592020T>ACA368978433CFTRc.1853T>A (p.Ile618Asn)
c.*1567T>A (n.*1567T>A)
c.1670T>A (p.Ile557Asn)
c.*153T>A (n.*153T>A)
c.*1677T>A (n.*1677T>A)
c.1427T>A (p.Ile476Asn)
c.1402-10806T>A (n.1402-10806T>A)
c.1763T>A (p.Ile588Asn)
c.1943T>A (p.Ile648Asn)
c.1610T>A (p.Ile537Asn)
7g.117592020T>CCA221010CFTRc.1853T>C (p.Ile618Thr)
c.*1567T>C (n.*1567T>C)
c.1670T>C (p.Ile557Thr)
c.*153T>C (n.*153T>C)
c.*1677T>C (n.*1677T>C)
c.1427T>C (p.Ile476Thr)
c.1402-10806T>C (n.1402-10806T>C)
c.1763T>C (p.Ile588Thr)
c.1943T>C (p.Ile648Thr)
c.1610T>C (p.Ile537Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117592020T>GCA368978438CFTRc.1853T>G (p.Ile618Ser)
c.*1567T>G (n.*1567T>G)
c.1670T>G (p.Ile557Ser)
c.*153T>G (n.*153T>G)
c.*1677T>G (n.*1677T>G)
c.1427T>G (p.Ile476Ser)
c.1402-10806T>G (n.1402-10806T>G)
c.1763T>G (p.Ile588Ser)
c.1943T>G (p.Ile648Ser)
c.1610T>G (p.Ile537Ser)
7g.117592020T=CA1737394020CFTRc.1853T= (p.Ile618=)
c.*1567T= (n.*1567T=)
c.1670T= (p.Ile557=)
c.*153T= (n.*153T=)
c.*1677T= (n.*1677T=)
c.1427T= (p.Ile476=)
c.1402-10806T= (n.1402-10806T=)
c.1763T= (p.Ile588=)
c.1943T= (p.Ile648=)
c.1610T= (p.Ile537=)
7g.117592021T>ACA457448851CFTRc.1854T>A (p.Ile618=)
c.*1568T>A (n.*1568T>A)
c.1671T>A (p.Ile557=)
c.*154T>A (n.*154T>A)
c.*1678T>A (n.*1678T>A)
c.1428T>A (p.Ile476=)
c.1402-10805T>A (n.1402-10805T>A)
c.1764T>A (p.Ile588=)
c.1944T>A (p.Ile648=)
c.1611T>A (p.Ile537=)
7g.117592021T>CCA457448852CFTRc.1854T>C (p.Ile618=)
c.*1568T>C (n.*1568T>C)
c.1671T>C (p.Ile557=)
c.*154T>C (n.*154T>C)
c.*1678T>C (n.*1678T>C)
c.1428T>C (p.Ile476=)
c.1402-10805T>C (n.1402-10805T>C)
c.1764T>C (p.Ile588=)
c.1944T>C (p.Ile648=)
c.1611T>C (p.Ile537=)
7g.117592021T>GCA368978442CFTRc.1854T>G (p.Ile618Met)
c.*1568T>G (n.*1568T>G)
c.1671T>G (p.Ile557Met)
c.*154T>G (n.*154T>G)
c.*1678T>G (n.*1678T>G)
c.1428T>G (p.Ile476Met)
c.1402-10805T>G (n.1402-10805T>G)
c.1764T>G (p.Ile588Met)
c.1944T>G (p.Ile648Met)
c.1611T>G (p.Ile537Met)
7g.117592022T>ACA368978445CFTRc.1855T>A (p.Leu619Met)
c.*1569T>A (n.*1569T>A)
c.1672T>A (p.Leu558Met)
c.*155T>A (n.*155T>A)
c.*1679T>A (n.*1679T>A)
c.1429T>A (p.Leu477Met)
c.1402-10804T>A (n.1402-10804T>A)
c.1765T>A (p.Leu589Met)
c.1945T>A (p.Leu649Met)
c.1612T>A (p.Leu538Met)
7g.117592022T>CCA457448853CFTRc.1855T>C (p.Leu619=)
c.*1569T>C (n.*1569T>C)
c.1672T>C (p.Leu558=)
c.*155T>C (n.*155T>C)
c.*1679T>C (n.*1679T>C)
c.1429T>C (p.Leu477=)
c.1402-10804T>C (n.1402-10804T>C)
c.1765T>C (p.Leu589=)
c.1945T>C (p.Leu649=)
c.1612T>C (p.Leu538=)
7g.117592022T>GCA368978448CFTRc.1855T>G (p.Leu619Val)
c.*1569T>G (n.*1569T>G)
c.1672T>G (p.Leu558Val)
c.*155T>G (n.*155T>G)
c.*1679T>G (n.*1679T>G)
c.1429T>G (p.Leu477Val)
c.1402-10804T>G (n.1402-10804T>G)
c.1765T>G (p.Leu589Val)
c.1945T>G (p.Leu649Val)
c.1612T>G (p.Leu538Val)
7g.117592023T>ACA368978452CFTRc.1856T>A (p.Leu619Ter)
c.*1570T>A (n.*1570T>A)
c.1673T>A (p.Leu558Ter)
c.*156T>A (n.*156T>A)
c.*1680T>A (n.*1680T>A)
c.1430T>A (p.Leu477Ter)
c.1402-10803T>A (n.1402-10803T>A)
c.1766T>A (p.Leu589Ter)
c.1946T>A (p.Leu649Ter)
c.1613T>A (p.Leu538Ter)
7g.117592023T>CCA326701CFTRc.1856T>C (p.Leu619Ser)
c.*1570T>C (n.*1570T>C)
c.1673T>C (p.Leu558Ser)
c.*156T>C (n.*156T>C)
c.*1680T>C (n.*1680T>C)
c.1430T>C (p.Leu477Ser)
c.1402-10803T>C (n.1402-10803T>C)
c.1766T>C (p.Leu589Ser)
c.1946T>C (p.Leu649Ser)
c.1613T>C (p.Leu538Ser)
 ClinVar dbSNP
7g.117592023T>GCA368978459CFTRc.1856T>G (p.Leu619Trp)
c.*1570T>G (n.*1570T>G)
c.1673T>G (p.Leu558Trp)
c.*156T>G (n.*156T>G)
c.*1680T>G (n.*1680T>G)
c.1430T>G (p.Leu477Trp)
c.1402-10803T>G (n.1402-10803T>G)
c.1766T>G (p.Leu589Trp)
c.1946T>G (p.Leu649Trp)
c.1613T>G (p.Leu538Trp)
7g.117592023T=CA1737394023CFTRc.1856T= (p.Leu619=)
c.*1570T= (n.*1570T=)
c.1673T= (p.Leu558=)
c.*156T= (n.*156T=)
c.*1680T= (n.*1680T=)
c.1430T= (p.Leu477=)
c.1402-10803T= (n.1402-10803T=)
c.1766T= (p.Leu589=)
c.1946T= (p.Leu649=)
c.1613T= (p.Leu538=)
7g.117592024G>ACA457448854CFTRc.1857G>A (p.Leu619=)
c.*1571G>A (n.*1571G>A)
c.1674G>A (p.Leu558=)
c.*157G>A (n.*157G>A)
c.*1681G>A (n.*1681G>A)
c.1431G>A (p.Leu477=)
c.1402-10802G>A (n.1402-10802G>A)
c.1767G>A (p.Leu589=)
c.1947G>A (p.Leu649=)
c.1614G>A (p.Leu538=)
7g.117592024G>CCA368978463CFTRc.1857G>C (p.Leu619Phe)
c.*1571G>C (n.*1571G>C)
c.1674G>C (p.Leu558Phe)
c.*157G>C (n.*157G>C)
c.*1681G>C (n.*1681G>C)
c.1431G>C (p.Leu477Phe)
c.1402-10802G>C (n.1402-10802G>C)
c.1767G>C (p.Leu589Phe)
c.1947G>C (p.Leu649Phe)
c.1614G>C (p.Leu538Phe)
7g.117592024G>TCA368978465CFTRc.1857G>T (p.Leu619Phe)
c.*1571G>T (n.*1571G>T)
c.1674G>T (p.Leu558Phe)
c.*157G>T (n.*157G>T)
c.*1681G>T (n.*1681G>T)
c.1431G>T (p.Leu477Phe)
c.1402-10802G>T (n.1402-10802G>T)
c.1767G>T (p.Leu589Phe)
c.1947G>T (p.Leu649Phe)
c.1614G>T (p.Leu538Phe)
 gnomAD v4
7g.117592025C>ACA368978472CFTRc.1858C>A (p.His620Asn)
c.*1572C>A (n.*1572C>A)
c.1675C>A (p.His559Asn)
c.*158C>A (n.*158C>A)
c.*1682C>A (n.*1682C>A)
c.1432C>A (p.His478Asn)
c.1402-10801C>A (n.1402-10801C>A)
c.1768C>A (p.His590Asn)
c.1948C>A (p.His650Asn)
c.1615C>A (p.His539Asn)
 gnomAD v4
7g.117592025C>GCA368978474CFTRc.1858C>G (p.His620Asp)
c.*1572C>G (n.*1572C>G)
c.1675C>G (p.His559Asp)
c.*158C>G (n.*158C>G)
c.*1682C>G (n.*1682C>G)
c.1432C>G (p.His478Asp)
c.1402-10801C>G (n.1402-10801C>G)
c.1768C>G (p.His590Asp)
c.1948C>G (p.His650Asp)
c.1615C>G (p.His539Asp)
7g.117592025C>TCA368978469CFTRc.1858C>T (p.His620Tyr)
c.*1572C>T (n.*1572C>T)
c.1675C>T (p.His559Tyr)
c.*158C>T (n.*158C>T)
c.*1682C>T (n.*1682C>T)
c.1432C>T (p.His478Tyr)
c.1402-10801C>T (n.1402-10801C>T)
c.1768C>T (p.His590Tyr)
c.1948C>T (p.His650Tyr)
c.1615C>T (p.His539Tyr)
 ClinVar gnomAD v4
7g.117592026A=CA1737394026CFTRc.1859A= (p.His620=)
c.*1573A= (n.*1573A=)
c.1676A= (p.His559=)
c.*159A= (n.*159A=)
c.*1683A= (n.*1683A=)
c.1433A= (p.His478=)
c.1402-10800A= (n.1402-10800A=)
c.1769A= (p.His590=)
c.1949A= (p.His650=)
c.1616A= (p.His539=)
7g.117592026A>CCA326702CFTRc.1859A>C (p.His620Pro)
c.*1573A>C (n.*1573A>C)
c.1676A>C (p.His559Pro)
c.*159A>C (n.*159A>C)
c.*1683A>C (n.*1683A>C)
c.1433A>C (p.His478Pro)
c.1402-10800A>C (n.1402-10800A>C)
c.1769A>C (p.His590Pro)
c.1949A>C (p.His650Pro)
c.1616A>C (p.His539Pro)
 ClinVar dbSNP gnomAD v4
7g.117592026A>GCA4451106CFTRc.1859A>G (p.His620Arg)
c.*1573A>G (n.*1573A>G)
c.1676A>G (p.His559Arg)
c.*159A>G (n.*159A>G)
c.*1683A>G (n.*1683A>G)
c.1433A>G (p.His478Arg)
c.1402-10800A>G (n.1402-10800A>G)
c.1769A>G (p.His590Arg)
c.1949A>G (p.His650Arg)
c.1616A>G (p.His539Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.117592026A>TCA4451107CFTRc.1859A>T (p.His620Leu)
c.*1573A>T (n.*1573A>T)
c.1676A>T (p.His559Leu)
c.*159A>T (n.*159A>T)
c.*1683A>T (n.*1683A>T)
c.1433A>T (p.His478Leu)
c.1402-10800A>T (n.1402-10800A>T)
c.1769A>T (p.His590Leu)
c.1949A>T (p.His650Leu)
c.1616A>T (p.His539Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117592027T>ACA368978481CFTRc.1860T>A (p.His620Gln)
c.*1574T>A (n.*1574T>A)
c.1677T>A (p.His559Gln)
c.*160T>A (n.*160T>A)
c.*1684T>A (n.*1684T>A)
c.1434T>A (p.His478Gln)
c.1402-10799T>A (n.1402-10799T>A)
c.1770T>A (p.His590Gln)
c.1950T>A (p.His650Gln)
c.1617T>A (p.His539Gln)
7g.117592027T>CCA457448855CFTRc.1860T>C (p.His620=)
c.*1574T>C (n.*1574T>C)
c.1677T>C (p.His559=)
c.*160T>C (n.*160T>C)
c.*1684T>C (n.*1684T>C)
c.1434T>C (p.His478=)
c.1402-10799T>C (n.1402-10799T>C)
c.1770T>C (p.His590=)
c.1950T>C (p.His650=)
c.1617T>C (p.His539=)
 ClinVar dbSNP
7g.117592027T>GCA326703CFTRc.1860T>G (p.His620Gln)
c.*1574T>G (n.*1574T>G)
c.1677T>G (p.His559Gln)
c.*160T>G (n.*160T>G)
c.*1684T>G (n.*1684T>G)
c.1434T>G (p.His478Gln)
c.1402-10799T>G (n.1402-10799T>G)
c.1770T>G (p.His590Gln)
c.1950T>G (p.His650Gln)
c.1617T>G (p.His539Gln)
 ClinVar dbSNP
7g.117592027T=CA1737394035CFTRc.1860T= (p.His620=)
c.*1574T= (n.*1574T=)
c.1677T= (p.His559=)
c.*160T= (n.*160T=)
c.*1684T= (n.*1684T=)
c.1434T= (p.His478=)
c.1402-10799T= (n.1402-10799T=)
c.1770T= (p.His590=)
c.1950T= (p.His650=)
c.1617T= (p.His539=)
7g.117592027dupCA2695208504CFTRc.1860dup (p.Glu621Ter)
c.*1574dup (n.*1574dup)
c.1677dup (p.Glu560Ter)
c.*160dup (n.*160dup)
c.*1684dup (n.*1684dup)
c.1434dup (p.Glu479Ter)
c.1402-10799dup (n.1402-10799dup)
c.1770dup (p.Glu591Ter)
c.1950dup (p.Glu651Ter)
c.1617dup (p.Glu540Ter)
7g.117592028G>ACA368978489CFTRc.1861G>A (p.Glu621Lys)
c.*1575G>A (n.*1575G>A)
c.1678G>A (p.Glu560Lys)
c.*161G>A (n.*161G>A)
c.*1685G>A (n.*1685G>A)
c.1435G>A (p.Glu479Lys)
c.1402-10798G>A (n.1402-10798G>A)
c.1771G>A (p.Glu591Lys)
c.1951G>A (p.Glu651Lys)
c.1618G>A (p.Glu540Lys)
 COSMIC
7g.117592028G>CCA368978490CFTRc.1861G>C (p.Glu621Gln)
c.*1575G>C (n.*1575G>C)
c.1678G>C (p.Glu560Gln)
c.*161G>C (n.*161G>C)
c.*1685G>C (n.*1685G>C)
c.1435G>C (p.Glu479Gln)
c.1402-10798G>C (n.1402-10798G>C)
c.1771G>C (p.Glu591Gln)
c.1951G>C (p.Glu651Gln)
c.1618G>C (p.Glu540Gln)
7g.117592028G=CA1737394038CFTRc.1861G= (p.Glu621=)
c.*1575G= (n.*1575G=)
c.1678G= (p.Glu560=)
c.*161G= (n.*161G=)
c.*1685G= (n.*1685G=)
c.1435G= (p.Glu479=)
c.1402-10798G= (n.1402-10798G=)
c.1771G= (p.Glu591=)
c.1951G= (p.Glu651=)
c.1618G= (p.Glu540=)
7g.117592028G>TCA368978491CFTRc.1861G>T (p.Glu621Ter)
c.*1575G>T (n.*1575G>T)
c.1678G>T (p.Glu560Ter)
c.*161G>T (n.*161G>T)
c.*1685G>T (n.*1685G>T)
c.1435G>T (p.Glu479Ter)
c.1402-10798G>T (n.1402-10798G>T)
c.1771G>T (p.Glu591Ter)
c.1951G>T (p.Glu651Ter)
c.1618G>T (p.Glu540Ter)
 ClinVar dbSNP
7g.117592029A=CA1737394042CFTRc.1862A= (p.Glu621=)
c.*1576A= (n.*1576A=)
c.1679A= (p.Glu560=)
c.*162A= (n.*162A=)
c.*1686A= (n.*1686A=)
c.1436A= (p.Glu479=)
c.1402-10797A= (n.1402-10797A=)
c.1772A= (p.Glu591=)
c.1952A= (p.Glu651=)
c.1619A= (p.Glu540=)
7g.117592029A>CCA368978492CFTRc.1862A>C (p.Glu621Ala)
c.*1576A>C (n.*1576A>C)
c.1679A>C (p.Glu560Ala)
c.*162A>C (n.*162A>C)
c.*1686A>C (n.*1686A>C)
c.1436A>C (p.Glu479Ala)
c.1402-10797A>C (n.1402-10797A>C)
c.1772A>C (p.Glu591Ala)
c.1952A>C (p.Glu651Ala)
c.1619A>C (p.Glu540Ala)
7g.117592029A>GCA368978493CFTRc.1862A>G (p.Glu621Gly)
c.*1576A>G (n.*1576A>G)
c.1679A>G (p.Glu560Gly)
c.*162A>G (n.*162A>G)
c.*1686A>G (n.*1686A>G)
c.1436A>G (p.Glu479Gly)
c.1402-10797A>G (n.1402-10797A>G)
c.1772A>G (p.Glu591Gly)
c.1952A>G (p.Glu651Gly)
c.1619A>G (p.Glu540Gly)
 dbSNP
7g.117592029A>TCA368978495CFTRc.1862A>T (p.Glu621Val)
c.*1576A>T (n.*1576A>T)
c.1679A>T (p.Glu560Val)
c.*162A>T (n.*162A>T)
c.*1686A>T (n.*1686A>T)
c.1436A>T (p.Glu479Val)
c.1402-10797A>T (n.1402-10797A>T)
c.1772A>T (p.Glu591Val)
c.1952A>T (p.Glu651Val)
c.1619A>T (p.Glu540Val)
7g.117592030A>CCA368978498CFTRc.1863A>C (p.Glu621Asp)
c.*1577A>C (n.*1577A>C)
c.1680A>C (p.Glu560Asp)
c.*163A>C (n.*163A>C)
c.*1687A>C (n.*1687A>C)
c.1437A>C (p.Glu479Asp)
c.1402-10796A>C (n.1402-10796A>C)
c.1773A>C (p.Glu591Asp)
c.1953A>C (p.Glu651Asp)
c.1620A>C (p.Glu540Asp)
7g.117592030A>GCA457448856CFTRc.1863A>G (p.Glu621=)
c.*1577A>G (n.*1577A>G)
c.1680A>G (p.Glu560=)
c.*163A>G (n.*163A>G)
c.*1687A>G (n.*1687A>G)
c.1437A>G (p.Glu479=)
c.1402-10796A>G (n.1402-10796A>G)
c.1773A>G (p.Glu591=)
c.1953A>G (p.Glu651=)
c.1620A>G (p.Glu540=)
 ClinVar
7g.117592030A>TCA368978500CFTRc.1863A>T (p.Glu621Asp)
c.*1577A>T (n.*1577A>T)
c.1680A>T (p.Glu560Asp)
c.*163A>T (n.*163A>T)
c.*1687A>T (n.*1687A>T)
c.1437A>T (p.Glu479Asp)
c.1402-10796A>T (n.1402-10796A>T)
c.1773A>T (p.Glu591Asp)
c.1953A>T (p.Glu651Asp)
c.1620A>T (p.Glu540Asp)
7g.117592031G>ACA368978503CFTRc.1864G>A (p.Gly622Ser)
c.*1578G>A (n.*1578G>A)
c.1681G>A (p.Gly561Ser)
c.*164G>A (n.*164G>A)
c.*1688G>A (n.*1688G>A)
c.1438G>A (p.Gly480Ser)
c.1402-10795G>A (n.1402-10795G>A)
c.1774G>A (p.Gly592Ser)
c.1954G>A (p.Gly652Ser)
c.1621G>A (p.Gly541Ser)
7g.117592031G>CCA368978505CFTRc.1864G>C (p.Gly622Arg)
c.*1578G>C (n.*1578G>C)
c.1681G>C (p.Gly561Arg)
c.*164G>C (n.*164G>C)
c.*1688G>C (n.*1688G>C)
c.1438G>C (p.Gly480Arg)
c.1402-10795G>C (n.1402-10795G>C)
c.1774G>C (p.Gly592Arg)
c.1954G>C (p.Gly652Arg)
c.1621G>C (p.Gly541Arg)
7g.117592031G>TCA368978508CFTRc.1864G>T (p.Gly622Cys)
c.*1578G>T (n.*1578G>T)
c.1681G>T (p.Gly561Cys)
c.*164G>T (n.*164G>T)
c.*1688G>T (n.*1688G>T)
c.1438G>T (p.Gly480Cys)
c.1402-10795G>T (n.1402-10795G>T)
c.1774G>T (p.Gly592Cys)
c.1954G>T (p.Gly652Cys)
c.1621G>T (p.Gly541Cys)
7g.117592032G>ACA326704CFTRc.1865G>A (p.Gly622Asp)
c.*1579G>A (n.*1579G>A)
c.1682G>A (p.Gly561Asp)
c.*165G>A (n.*165G>A)
c.*1689G>A (n.*1689G>A)
c.1439G>A (p.Gly480Asp)
c.1402-10794G>A (n.1402-10794G>A)
c.1775G>A (p.Gly592Asp)
c.1955G>A (p.Gly652Asp)
c.1622G>A (p.Gly541Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117592032G>CCA368978514CFTRc.1865G>C (p.Gly622Ala)
c.*1579G>C (n.*1579G>C)
c.1682G>C (p.Gly561Ala)
c.*165G>C (n.*165G>C)
c.*1689G>C (n.*1689G>C)
c.1439G>C (p.Gly480Ala)
c.1402-10794G>C (n.1402-10794G>C)
c.1775G>C (p.Gly592Ala)
c.1955G>C (p.Gly652Ala)
c.1622G>C (p.Gly541Ala)
7g.117592032G=CA1737394048CFTRc.1865G= (p.Gly622=)
c.*1579G= (n.*1579G=)
c.1682G= (p.Gly561=)
c.*165G= (n.*165G=)
c.*1689G= (n.*1689G=)
c.1439G= (p.Gly480=)
c.1402-10794G= (n.1402-10794G=)
c.1775G= (p.Gly592=)
c.1955G= (p.Gly652=)
c.1622G= (p.Gly541=)
7g.117592032G>TCA368978513CFTRc.1865G>T (p.Gly622Val)
c.*1579G>T (n.*1579G>T)
c.1682G>T (p.Gly561Val)
c.*165G>T (n.*165G>T)
c.*1689G>T (n.*1689G>T)
c.1439G>T (p.Gly480Val)
c.1402-10794G>T (n.1402-10794G>T)
c.1775G>T (p.Gly592Val)
c.1955G>T (p.Gly652Val)
c.1622G>T (p.Gly541Val)
7g.117592033T>ACA457448857CFTRc.1866T>A (p.Gly622=)
c.*1580T>A (n.*1580T>A)
c.1683T>A (p.Gly561=)
c.*166T>A (n.*166T>A)
c.*1690T>A (n.*1690T>A)
c.1440T>A (p.Gly480=)
c.1402-10793T>A (n.1402-10793T>A)
c.1776T>A (p.Gly592=)
c.1956T>A (p.Gly652=)
c.1623T>A (p.Gly541=)
7g.117592033T>CCA457448859CFTRc.1866T>C (p.Gly622=)
c.*1580T>C (n.*1580T>C)
c.1683T>C (p.Gly561=)
c.*166T>C (n.*166T>C)
c.*1690T>C (n.*1690T>C)
c.1440T>C (p.Gly480=)
c.1402-10793T>C (n.1402-10793T>C)
c.1776T>C (p.Gly592=)
c.1956T>C (p.Gly652=)
c.1623T>C (p.Gly541=)
 gnomAD v4
7g.117592033T>GCA457448858CFTRc.1866T>G (p.Gly622=)
c.*1580T>G (n.*1580T>G)
c.1683T>G (p.Gly561=)
c.*166T>G (n.*166T>G)
c.*1690T>G (n.*1690T>G)
c.1440T>G (p.Gly480=)
c.1402-10793T>G (n.1402-10793T>G)
c.1776T>G (p.Gly592=)
c.1956T>G (p.Gly652=)
c.1623T>G (p.Gly541=)
7g.117592034A>CCA368978518CFTRc.1867A>C (p.Ser623Arg)
c.*1581A>C (n.*1581A>C)
c.1684A>C (p.Ser562Arg)
c.*167A>C (n.*167A>C)
c.*1691A>C (n.*1691A>C)
c.1441A>C (p.Ser481Arg)
c.1402-10792A>C (n.1402-10792A>C)
c.1777A>C (p.Ser593Arg)
c.1957A>C (p.Ser653Arg)
c.1624A>C (p.Ser542Arg)
7g.117592034A>GCA368978520CFTRc.1867A>G (p.Ser623Gly)
c.*1581A>G (n.*1581A>G)
c.1684A>G (p.Ser562Gly)
c.*167A>G (n.*167A>G)
c.*1691A>G (n.*1691A>G)
c.1441A>G (p.Ser481Gly)
c.1402-10792A>G (n.1402-10792A>G)
c.1777A>G (p.Ser593Gly)
c.1957A>G (p.Ser653Gly)
c.1624A>G (p.Ser542Gly)
7g.117592034A>TCA368978523CFTRc.1867A>T (p.Ser623Cys)
c.*1581A>T (n.*1581A>T)
c.1684A>T (p.Ser562Cys)
c.*167A>T (n.*167A>T)
c.*1691A>T (n.*1691A>T)
c.1441A>T (p.Ser481Cys)
c.1402-10792A>T (n.1402-10792A>T)
c.1777A>T (p.Ser593Cys)
c.1957A>T (p.Ser653Cys)
c.1624A>T (p.Ser542Cys)
7g.117592034dupCA2580076503CFTRc.1867dup (p.Ser623LysfsTer19)
c.*1581dup (n.*1581dup)
c.1684dup (p.Ser562LysfsTer19)
c.*167dup (n.*167dup)
c.*1691dup (n.*1691dup)
c.1441dup (p.Ser481LysfsTer19)
c.1402-10792dup (n.1402-10792dup)
c.1777dup (p.Ser593LysfsTer19)
c.1957dup (p.Ser653LysfsTer19)
c.1624dup (p.Ser542LysfsTer19)
 ClinVar
7g.117592034_117592036delinsGCA2580076502CFTRc.1867_1869delinsG (p.Ser623GlufsTer18)
c.*1581_*1583delinsG (n.*1581_*1583delinsG)
c.1684_1686delinsG (p.Ser562GlufsTer18)
c.*167_*169delinsG (n.*167_*169delinsG)
c.*1691_*1693delinsG (n.*1691_*1693delinsG)
c.1441_1443delinsG (p.Ser481GlufsTer18)
c.1402-10792_1402-10790delinsG (n.1402-10792_1402-10790delinsG)
c.1777_1779delinsG (p.Ser593GlufsTer18)
c.1957_1959delinsG (p.Ser653GlufsTer18)
c.1624_1626delinsG (p.Ser542GlufsTer18)
 ClinVar
7g.117592035G>ACA368978526CFTRc.1868G>A (p.Ser623Asn)
c.*1582G>A (n.*1582G>A)
c.1685G>A (p.Ser562Asn)
c.*168G>A (n.*168G>A)
c.*1692G>A (n.*1692G>A)
c.1442G>A (p.Ser481Asn)
c.1402-10791G>A (n.1402-10791G>A)
c.1778G>A (p.Ser593Asn)
c.1958G>A (p.Ser653Asn)
c.1625G>A (p.Ser542Asn)
7g.117592035G>CCA368978528CFTRc.1868G>C (p.Ser623Thr)
c.*1582G>C (n.*1582G>C)
c.1685G>C (p.Ser562Thr)
c.*168G>C (n.*168G>C)
c.*1692G>C (n.*1692G>C)
c.1442G>C (p.Ser481Thr)
c.1402-10791G>C (n.1402-10791G>C)
c.1778G>C (p.Ser593Thr)
c.1958G>C (p.Ser653Thr)
c.1625G>C (p.Ser542Thr)
7g.117592035G>TCA368978529CFTRc.1868G>T (p.Ser623Ile)
c.*1582G>T (n.*1582G>T)
c.1685G>T (p.Ser562Ile)
c.*168G>T (n.*168G>T)
c.*1692G>T (n.*1692G>T)
c.1442G>T (p.Ser481Ile)
c.1402-10791G>T (n.1402-10791G>T)
c.1778G>T (p.Ser593Ile)
c.1958G>T (p.Ser653Ile)
c.1625G>T (p.Ser542Ile)
7g.117592036C>ACA368978530CFTRc.1869C>A (p.Ser623Arg)
c.*1583C>A (n.*1583C>A)
c.1686C>A (p.Ser562Arg)
c.*169C>A (n.*169C>A)
c.*1693C>A (n.*1693C>A)
c.1443C>A (p.Ser481Arg)
c.1402-10790C>A (n.1402-10790C>A)
c.1779C>A (p.Ser593Arg)
c.1959C>A (p.Ser653Arg)
c.1626C>A (p.Ser542Arg)
7g.117592036C>GCA368978532CFTRc.1869C>G (p.Ser623Arg)
c.*1583C>G (n.*1583C>G)
c.1686C>G (p.Ser562Arg)
c.*169C>G (n.*169C>G)
c.*1693C>G (n.*1693C>G)
c.1443C>G (p.Ser481Arg)
c.1402-10790C>G (n.1402-10790C>G)
c.1779C>G (p.Ser593Arg)
c.1959C>G (p.Ser653Arg)
c.1626C>G (p.Ser542Arg)
7g.117592036C>TCA457448860CFTRc.1869C>T (p.Ser623=)
c.*1583C>T (n.*1583C>T)
c.1686C>T (p.Ser562=)
c.*169C>T (n.*169C>T)
c.*1693C>T (n.*1693C>T)
c.1443C>T (p.Ser481=)
c.1402-10790C>T (n.1402-10790C>T)
c.1779C>T (p.Ser593=)
c.1959C>T (p.Ser653=)
c.1626C>T (p.Ser542=)
7g.117592037A>CCA368978534CFTRc.1870A>C (p.Ser624Arg)
c.*1584A>C (n.*1584A>C)
c.1687A>C (p.Ser563Arg)
c.*170A>C (n.*170A>C)
c.*1694A>C (n.*1694A>C)
c.1444A>C (p.Ser482Arg)
c.1402-10789A>C (n.1402-10789A>C)
c.1780A>C (p.Ser594Arg)
c.1960A>C (p.Ser654Arg)
c.1627A>C (p.Ser543Arg)
7g.117592037A>GCA368978536CFTRc.1870A>G (p.Ser624Gly)
c.*1584A>G (n.*1584A>G)
c.1687A>G (p.Ser563Gly)
c.*170A>G (n.*170A>G)
c.*1694A>G (n.*1694A>G)
c.1444A>G (p.Ser482Gly)
c.1402-10789A>G (n.1402-10789A>G)
c.1780A>G (p.Ser594Gly)
c.1960A>G (p.Ser654Gly)
c.1627A>G (p.Ser543Gly)
7g.117592037A>TCA368978539CFTRc.1870A>T (p.Ser624Cys)
c.*1584A>T (n.*1584A>T)
c.1687A>T (p.Ser563Cys)
c.*170A>T (n.*170A>T)
c.*1694A>T (n.*1694A>T)
c.1444A>T (p.Ser482Cys)
c.1402-10789A>T (n.1402-10789A>T)
c.1780A>T (p.Ser594Cys)
c.1960A>T (p.Ser654Cys)
c.1627A>T (p.Ser543Cys)
 ClinVar gnomAD v4
7g.117592037_117592045delinsAGCTATTTTCA1737394053CFTRc.1870_1878delinsAGCTATTTT (p.Ser624=)
c.*1584_*1592delinsAGCTATTTT (n.*1584_*1592delinsAGCTATTTT)
c.1687_1695delinsAGCTATTTT (p.Ser563=)
c.*170_*178delinsAGCTATTTT (n.*170_*178delinsAGCTATTTT)
c.*1694_*1702delinsAGCTATTTT (n.*1694_*1702delinsAGCTATTTT)
c.1444_1452delinsAGCTATTTT (p.Ser482=)
c.1402-10789_1402-10781delinsAGCTATTTT (n.1402-10789_1402-10781delinsAGCTATTTT)
c.1780_1788delinsAGCTATTTT (p.Ser594=)
c.1960_1968delinsAGCTATTTT (p.Ser654=)
c.1627_1635delinsAGCTATTTT (p.Ser543=)
7g.117592038G>ACA368978544CFTRc.1871G>A (p.Ser624Asn)
c.*1585G>A (n.*1585G>A)
c.1688G>A (p.Ser563Asn)
c.*171G>A (n.*171G>A)
c.*1695G>A (n.*1695G>A)
c.1445G>A (p.Ser482Asn)
c.1402-10788G>A (n.1402-10788G>A)
c.1781G>A (p.Ser594Asn)
c.1961G>A (p.Ser654Asn)
c.1628G>A (p.Ser543Asn)
 gnomAD v4
7g.117592038G>CCA368978543CFTRc.1871G>C (p.Ser624Thr)
c.*1585G>C (n.*1585G>C)
c.1688G>C (p.Ser563Thr)
c.*171G>C (n.*171G>C)
c.*1695G>C (n.*1695G>C)
c.1445G>C (p.Ser482Thr)
c.1402-10788G>C (n.1402-10788G>C)
c.1781G>C (p.Ser594Thr)
c.1961G>C (p.Ser654Thr)
c.1628G>C (p.Ser543Thr)
7g.117592038G>TCA368978540CFTRc.1871G>T (p.Ser624Ile)
c.*1585G>T (n.*1585G>T)
c.1688G>T (p.Ser563Ile)
c.*171G>T (n.*171G>T)
c.*1695G>T (n.*1695G>T)
c.1445G>T (p.Ser482Ile)
c.1402-10788G>T (n.1402-10788G>T)
c.1781G>T (p.Ser594Ile)
c.1961G>T (p.Ser654Ile)
c.1628G>T (p.Ser543Ile)
7g.117592038_117592045delCA577680762CFTRc.1871_1878del (p.Ser624IlefsTer15)
c.*1585_*1592del (n.*1585_*1592del)
c.1688_1695del (p.Ser563IlefsTer15)
c.*171_*178del (n.*171_*178del)
c.*1695_*1702del (n.*1695_*1702del)
c.1445_1452del (p.Ser482IlefsTer15)
c.1402-10788_1402-10781del (n.1402-10788_1402-10781del)
c.1781_1788del (p.Ser594IlefsTer15)
c.1961_1968del (p.Ser654IlefsTer15)
c.1628_1635del (p.Ser543IlefsTer15)
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.117592039C>ACA368978549CFTRc.1872C>A (p.Ser624Arg)
c.*1586C>A (n.*1586C>A)
c.1689C>A (p.Ser563Arg)
c.*172C>A (n.*172C>A)
c.*1696C>A (n.*1696C>A)
c.1446C>A (p.Ser482Arg)
c.1402-10787C>A (n.1402-10787C>A)
c.1782C>A (p.Ser594Arg)
c.1962C>A (p.Ser654Arg)
c.1629C>A (p.Ser543Arg)
 ClinVar dbSNP gnomAD v3 gnomAD v4
7g.117592039C=CA1737394057CFTRc.1872C= (p.Ser624=)
c.*1586C= (n.*1586C=)
c.1689C= (p.Ser563=)
c.*172C= (n.*172C=)
c.*1696C= (n.*1696C=)
c.1446C= (p.Ser482=)
c.1402-10787C= (n.1402-10787C=)
c.1782C= (p.Ser594=)
c.1962C= (p.Ser654=)
c.1629C= (p.Ser543=)
7g.117592039C>GCA368978548CFTRc.1872C>G (p.Ser624Arg)
c.*1586C>G (n.*1586C>G)
c.1689C>G (p.Ser563Arg)
c.*172C>G (n.*172C>G)
c.*1696C>G (n.*1696C>G)
c.1446C>G (p.Ser482Arg)
c.1402-10787C>G (n.1402-10787C>G)
c.1782C>G (p.Ser594Arg)
c.1962C>G (p.Ser654Arg)
c.1629C>G (p.Ser543Arg)
7g.117592039C>TCA457448861CFTRc.1872C>T (p.Ser624=)
c.*1586C>T (n.*1586C>T)
c.1689C>T (p.Ser563=)
c.*172C>T (n.*172C>T)
c.*1696C>T (n.*1696C>T)
c.1446C>T (p.Ser482=)
c.1402-10787C>T (n.1402-10787C>T)
c.1782C>T (p.Ser594=)
c.1962C>T (p.Ser654=)
c.1629C>T (p.Ser543=)
7g.117592040T>ACA4451108CFTRc.1873T>A (p.Tyr625Asn)
c.*1587T>A (n.*1587T>A)
c.1690T>A (p.Tyr564Asn)
c.*173T>A (n.*173T>A)
c.*1697T>A (n.*1697T>A)
c.1447T>A (p.Tyr483Asn)
c.1402-10786T>A (n.1402-10786T>A)
c.1783T>A (p.Tyr595Asn)
c.1963T>A (p.Tyr655Asn)
c.1630T>A (p.Tyr544Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.117592040T>CCA368978551CFTRc.1873T>C (p.Tyr625His)
c.*1587T>C (n.*1587T>C)
c.1690T>C (p.Tyr564His)
c.*173T>C (n.*173T>C)
c.*1697T>C (n.*1697T>C)
c.1447T>C (p.Tyr483His)
c.1402-10786T>C (n.1402-10786T>C)
c.1783T>C (p.Tyr595His)
c.1963T>C (p.Tyr655His)
c.1630T>C (p.Tyr544His)
7g.117592040T>GCA368978553CFTRc.1873T>G (p.Tyr625Asp)
c.*1587T>G (n.*1587T>G)
c.1690T>G (p.Tyr564Asp)
c.*173T>G (n.*173T>G)
c.*1697T>G (n.*1697T>G)
c.1447T>G (p.Tyr483Asp)
c.1402-10786T>G (n.1402-10786T>G)
c.1783T>G (p.Tyr595Asp)
c.1963T>G (p.Tyr655Asp)
c.1630T>G (p.Tyr544Asp)
7g.117592040T=CA1737394059CFTRc.1873T= (p.Tyr625=)
c.*1587T= (n.*1587T=)
c.1690T= (p.Tyr564=)
c.*173T= (n.*173T=)
c.*1697T= (n.*1697T=)
c.1447T= (p.Tyr483=)
c.1402-10786T= (n.1402-10786T=)
c.1783T= (p.Tyr595=)
c.1963T= (p.Tyr655=)
c.1630T= (p.Tyr544=)
7g.117592041A>CCA368978555CFTRc.1874A>C (p.Tyr625Ser)
c.*1588A>C (n.*1588A>C)
c.1691A>C (p.Tyr564Ser)
c.*174A>C (n.*174A>C)
c.*1698A>C (n.*1698A>C)
c.1448A>C (p.Tyr483Ser)
c.1402-10785A>C (n.1402-10785A>C)
c.1784A>C (p.Tyr595Ser)
c.1964A>C (p.Tyr655Ser)
c.1631A>C (p.Tyr544Ser)
 ClinVar
7g.117592041A>GCA368978557CFTRc.1874A>G (p.Tyr625Cys)
c.*1588A>G (n.*1588A>G)
c.1691A>G (p.Tyr564Cys)
c.*174A>G (n.*174A>G)
c.*1698A>G (n.*1698A>G)
c.1448A>G (p.Tyr483Cys)
c.1402-10785A>G (n.1402-10785A>G)
c.1784A>G (p.Tyr595Cys)
c.1964A>G (p.Tyr655Cys)
c.1631A>G (p.Tyr544Cys)
 gnomAD v4
7g.117592041A>TCA368978559CFTRc.1874A>T (p.Tyr625Phe)
c.*1588A>T (n.*1588A>T)
c.1691A>T (p.Tyr564Phe)
c.*174A>T (n.*174A>T)
c.*1698A>T (n.*1698A>T)
c.1448A>T (p.Tyr483Phe)
c.1402-10785A>T (n.1402-10785A>T)
c.1784A>T (p.Tyr595Phe)
c.1964A>T (p.Tyr655Phe)
c.1631A>T (p.Tyr544Phe)
7g.117592042T>ACA368978562CFTRc.1875T>A (p.Tyr625Ter)
c.*1589T>A (n.*1589T>A)
c.1692T>A (p.Tyr564Ter)
c.*175T>A (n.*175T>A)
c.*1699T>A (n.*1699T>A)
c.1449T>A (p.Tyr483Ter)
c.1402-10784T>A (n.1402-10784T>A)
c.1785T>A (p.Tyr595Ter)
c.1965T>A (p.Tyr655Ter)
c.1632T>A (p.Tyr544Ter)
7g.117592042T>CCA457448862CFTRc.1875T>C (p.Tyr625=)
c.*1589T>C (n.*1589T>C)
c.1692T>C (p.Tyr564=)
c.*175T>C (n.*175T>C)
c.*1699T>C (n.*1699T>C)
c.1449T>C (p.Tyr483=)
c.1402-10784T>C (n.1402-10784T>C)
c.1785T>C (p.Tyr595=)
c.1965T>C (p.Tyr655=)
c.1632T>C (p.Tyr544=)
 ClinVar dbSNP
7g.117592042T>GCA368978564CFTRc.1875T>G (p.Tyr625Ter)
c.*1589T>G (n.*1589T>G)
c.1692T>G (p.Tyr564Ter)
c.*175T>G (n.*175T>G)
c.*1699T>G (n.*1699T>G)
c.1449T>G (p.Tyr483Ter)
c.1402-10784T>G (n.1402-10784T>G)
c.1785T>G (p.Tyr595Ter)
c.1965T>G (p.Tyr655Ter)
c.1632T>G (p.Tyr544Ter)
7g.117592044_117592046delCA2684619354CFTRc.1877_1879del (p.Phe626del)
c.*1591_*1593del (n.*1591_*1593del)
c.1694_1696del (p.Phe565del)
c.*177_*179del (n.*177_*179del)
c.*1701_*1703del (n.*1701_*1703del)
c.1451_1453del (p.Phe484del)
c.1402-10782_1402-10780del (n.1402-10782_1402-10780del)
c.1787_1789del (p.Phe596del)
c.1967_1969del (p.Phe656del)
c.1634_1636del (p.Phe545del)
 gnomAD v4
7g.117592043T>ACA368978570CFTRc.1876T>A (p.Phe626Ile)
c.*1590T>A (n.*1590T>A)
c.1693T>A (p.Phe565Ile)
c.*176T>A (n.*176T>A)
c.*1700T>A (n.*1700T>A)
c.1450T>A (p.Phe484Ile)
c.1402-10783T>A (n.1402-10783T>A)
c.1786T>A (p.Phe596Ile)
c.1966T>A (p.Phe656Ile)
c.1633T>A (p.Phe545Ile)
7g.117592043T>CCA368978572CFTRc.1876T>C (p.Phe626Leu)
c.*1590T>C (n.*1590T>C)
c.1693T>C (p.Phe565Leu)
c.*176T>C (n.*176T>C)
c.*1700T>C (n.*1700T>C)
c.1450T>C (p.Phe484Leu)
c.1402-10783T>C (n.1402-10783T>C)
c.1786T>C (p.Phe596Leu)
c.1966T>C (p.Phe656Leu)
c.1633T>C (p.Phe545Leu)
7g.117592043T>GCA368978574CFTRc.1876T>G (p.Phe626Val)
c.*1590T>G (n.*1590T>G)
c.1693T>G (p.Phe565Val)
c.*176T>G (n.*176T>G)
c.*1700T>G (n.*1700T>G)
c.1450T>G (p.Phe484Val)
c.1402-10783T>G (n.1402-10783T>G)
c.1786T>G (p.Phe596Val)
c.1966T>G (p.Phe656Val)
c.1633T>G (p.Phe545Val)
7g.117592044T>ACA368978582CFTRc.1877T>A (p.Phe626Tyr)
c.*1591T>A (n.*1591T>A)
c.1694T>A (p.Phe565Tyr)
c.*177T>A (n.*177T>A)
c.*1701T>A (n.*1701T>A)
c.1451T>A (p.Phe484Tyr)
c.1402-10782T>A (n.1402-10782T>A)
c.1787T>A (p.Phe596Tyr)
c.1967T>A (p.Phe656Tyr)
c.1634T>A (p.Phe545Tyr)
7g.117592044T>CCA368978580CFTRc.1877T>C (p.Phe626Ser)
c.*1591T>C (n.*1591T>C)
c.1694T>C (p.Phe565Ser)
c.*177T>C (n.*177T>C)
c.*1701T>C (n.*1701T>C)
c.1451T>C (p.Phe484Ser)
c.1402-10782T>C (n.1402-10782T>C)
c.1787T>C (p.Phe596Ser)
c.1967T>C (p.Phe656Ser)
c.1634T>C (p.Phe545Ser)
7g.117592044T>GCA368978576CFTRc.1877T>G (p.Phe626Cys)
c.*1591T>G (n.*1591T>G)
c.1694T>G (p.Phe565Cys)
c.*177T>G (n.*177T>G)
c.*1701T>G (n.*1701T>G)
c.1451T>G (p.Phe484Cys)
c.1402-10782T>G (n.1402-10782T>G)
c.1787T>G (p.Phe596Cys)
c.1967T>G (p.Phe656Cys)
c.1634T>G (p.Phe545Cys)
7g.117592045T>ACA368978584CFTRc.1878T>A (p.Phe626Leu)
c.*1592T>A (n.*1592T>A)
c.1695T>A (p.Phe565Leu)
c.*178T>A (n.*178T>A)
c.*1702T>A (n.*1702T>A)
c.1452T>A (p.Phe484Leu)
c.1402-10781T>A (n.1402-10781T>A)
c.1788T>A (p.Phe596Leu)
c.1968T>A (p.Phe656Leu)
c.1635T>A (p.Phe545Leu)
7g.117592045T>CCA457448863CFTRc.1878T>C (p.Phe626=)
c.*1592T>C (n.*1592T>C)
c.1695T>C (p.Phe565=)
c.*178T>C (n.*178T>C)
c.*1702T>C (n.*1702T>C)
c.1452T>C (p.Phe484=)
c.1402-10781T>C (n.1402-10781T>C)
c.1788T>C (p.Phe596=)
c.1968T>C (p.Phe656=)
c.1635T>C (p.Phe545=)
7g.117592045T>GCA4451109CFTRc.1878T>G (p.Phe626Leu)
c.*1592T>G (n.*1592T>G)
c.1695T>G (p.Phe565Leu)
c.*178T>G (n.*178T>G)
c.*1702T>G (n.*1702T>G)
c.1452T>G (p.Phe484Leu)
c.1402-10781T>G (n.1402-10781T>G)
c.1788T>G (p.Phe596Leu)
c.1968T>G (p.Phe656Leu)
c.1635T>G (p.Phe545Leu)
 dbSNP ExAC gnomAD v2
7g.117592045T=CA1737394062CFTRc.1878T= (p.Phe626=)
c.*1592T= (n.*1592T=)
c.1695T= (p.Phe565=)
c.*178T= (n.*178T=)
c.*1702T= (n.*1702T=)
c.1452T= (p.Phe484=)
c.1402-10781T= (n.1402-10781T=)
c.1788T= (p.Phe596=)
c.1968T= (p.Phe656=)
c.1635T= (p.Phe545=)
7g.117592046T>ACA368978588CFTRc.1879T>A (p.Tyr627Asn)
c.*1593T>A (n.*1593T>A)
c.1696T>A (p.Tyr566Asn)
c.*179T>A (n.*179T>A)
c.*1703T>A (n.*1703T>A)
c.1453T>A (p.Tyr485Asn)
c.1402-10780T>A (n.1402-10780T>A)
c.1789T>A (p.Tyr597Asn)
c.1969T>A (p.Tyr657Asn)
c.1636T>A (p.Tyr546Asn)
7g.117592046T>CCA368978592CFTRc.1879T>C (p.Tyr627His)
c.*1593T>C (n.*1593T>C)
c.1696T>C (p.Tyr566His)
c.*179T>C (n.*179T>C)
c.*1703T>C (n.*1703T>C)
c.1453T>C (p.Tyr485His)
c.1402-10780T>C (n.1402-10780T>C)
c.1789T>C (p.Tyr597His)
c.1969T>C (p.Tyr657His)
c.1636T>C (p.Tyr546His)
7g.117592046T>GCA368978594CFTRc.1879T>G (p.Tyr627Asp)
c.*1593T>G (n.*1593T>G)
c.1696T>G (p.Tyr566Asp)
c.*179T>G (n.*179T>G)
c.*1703T>G (n.*1703T>G)
c.1453T>G (p.Tyr485Asp)
c.1402-10780T>G (n.1402-10780T>G)
c.1789T>G (p.Tyr597Asp)
c.1969T>G (p.Tyr657Asp)
c.1636T>G (p.Tyr546Asp)
7g.117592047A=CA1737394065CFTRc.1880A= (p.Tyr627=)
c.*1594A= (n.*1594A=)
c.1697A= (p.Tyr566=)
c.*180A= (n.*180A=)
c.*1704A= (n.*1704A=)
c.1454A= (p.Tyr485=)
c.1402-10779A= (n.1402-10779A=)
c.1790A= (p.Tyr597=)
c.1970A= (p.Tyr657=)
c.1637A= (p.Tyr546=)
7g.117592047A>CCA368978596CFTRc.1880A>C (p.Tyr627Ser)
c.*1594A>C (n.*1594A>C)
c.1697A>C (p.Tyr566Ser)
c.*180A>C (n.*180A>C)
c.*1704A>C (n.*1704A>C)
c.1454A>C (p.Tyr485Ser)
c.1402-10779A>C (n.1402-10779A>C)
c.1790A>C (p.Tyr597Ser)
c.1970A>C (p.Tyr657Ser)
c.1637A>C (p.Tyr546Ser)
7g.117592047A>GCA368978597CFTRc.1880A>G (p.Tyr627Cys)
c.*1594A>G (n.*1594A>G)
c.1697A>G (p.Tyr566Cys)
c.*180A>G (n.*180A>G)
c.*1704A>G (n.*1704A>G)
c.1454A>G (p.Tyr485Cys)
c.1402-10779A>G (n.1402-10779A>G)
c.1790A>G (p.Tyr597Cys)
c.1970A>G (p.Tyr657Cys)
c.1637A>G (p.Tyr546Cys)
 dbSNP gnomAD v2 gnomAD v4
7g.117592047A>TCA368978598CFTRc.1880A>T (p.Tyr627Phe)
c.*1594A>T (n.*1594A>T)
c.1697A>T (p.Tyr566Phe)
c.*180A>T (n.*180A>T)
c.*1704A>T (n.*1704A>T)
c.1454A>T (p.Tyr485Phe)
c.1402-10779A>T (n.1402-10779A>T)
c.1790A>T (p.Tyr597Phe)
c.1970A>T (p.Tyr657Phe)
c.1637A>T (p.Tyr546Phe)
7g.117592048T>ACA368978602CFTRc.1881T>A (p.Tyr627Ter)
c.*1595T>A (n.*1595T>A)
c.1698T>A (p.Tyr566Ter)
c.*181T>A (n.*181T>A)
c.*1705T>A (n.*1705T>A)
c.1455T>A (p.Tyr485Ter)
c.1402-10778T>A (n.1402-10778T>A)
c.1791T>A (p.Tyr597Ter)
c.1971T>A (p.Tyr657Ter)
c.1638T>A (p.Tyr546Ter)
7g.117592048T>CCA457448864CFTRc.1881T>C (p.Tyr627=)
c.*1595T>C (n.*1595T>C)
c.1698T>C (p.Tyr566=)
c.*181T>C (n.*181T>C)
c.*1705T>C (n.*1705T>C)
c.1455T>C (p.Tyr485=)
c.1402-10778T>C (n.1402-10778T>C)
c.1791T>C (p.Tyr597=)
c.1971T>C (p.Tyr657=)
c.1638T>C (p.Tyr546=)
 ClinVar
7g.117592048T>GCA368978603CFTRc.1881T>G (p.Tyr627Ter)
c.*1595T>G (n.*1595T>G)
c.1698T>G (p.Tyr566Ter)
c.*181T>G (n.*181T>G)
c.*1705T>G (n.*1705T>G)
c.1455T>G (p.Tyr485Ter)
c.1402-10778T>G (n.1402-10778T>G)
c.1791T>G (p.Tyr597Ter)
c.1971T>G (p.Tyr657Ter)
c.1638T>G (p.Tyr546Ter)
7g.117592049G>ACA326706CFTRc.1882G>A (p.Gly628Arg)
c.*1596G>A (n.*1596G>A)
c.1699G>A (p.Gly567Arg)
c.*182G>A (n.*182G>A)
c.*1706G>A (n.*1706G>A)
c.1456G>A (p.Gly486Arg)
c.1402-10777G>A (n.1402-10777G>A)
c.1792G>A (p.Gly598Arg)
c.1972G>A (p.Gly658Arg)
c.1639G>A (p.Gly547Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.117592049G>CCA326707CFTRc.1882G>C (p.Gly628Arg)
c.*1596G>C (n.*1596G>C)
c.1699G>C (p.Gly567Arg)
c.*182G>C (n.*182G>C)
c.*1706G>C (n.*1706G>C)
c.1456G>C (p.Gly486Arg)
c.1402-10777G>C (n.1402-10777G>C)
c.1792G>C (p.Gly598Arg)
c.1972G>C (p.Gly658Arg)
c.1639G>C (p.Gly547Arg)
 ClinVar dbSNP gnomAD v4
7g.117592049G=CA1737394069CFTRc.1882G= (p.Gly628=)
c.*1596G= (n.*1596G=)
c.1699G= (p.Gly567=)
c.*182G= (n.*182G=)
c.*1706G= (n.*1706G=)
c.1456G= (p.Gly486=)
c.1402-10777G= (n.1402-10777G=)
c.1792G= (p.Gly598=)
c.1972G= (p.Gly658=)
c.1639G= (p.Gly547=)
7g.117592049G>TCA368978610CFTRc.1882G>T (p.Gly628Trp)
c.*1596G>T (n.*1596G>T)
c.1699G>T (p.Gly567Trp)
c.*182G>T (n.*182G>T)
c.*1706G>T (n.*1706G>T)
c.1456G>T (p.Gly486Trp)
c.1402-10777G>T (n.1402-10777G>T)
c.1792G>T (p.Gly598Trp)
c.1972G>T (p.Gly658Trp)
c.1639G>T (p.Gly547Trp)
7g.117592050G>ACA368978612CFTRc.1883G>A (p.Gly628Glu)
c.*1597G>A (n.*1597G>A)
c.1700G>A (p.Gly567Glu)
c.*183G>A (n.*183G>A)
c.*1707G>A (n.*1707G>A)
c.1457G>A (p.Gly486Glu)
c.1402-10776G>A (n.1402-10776G>A)
c.1793G>A (p.Gly598Glu)
c.1973G>A (p.Gly658Glu)
c.1640G>A (p.Gly547Glu)
7g.117592050G>CCA368978613CFTRc.1883G>C (p.Gly628Ala)
c.*1597G>C (n.*1597G>C)
c.1700G>C (p.Gly567Ala)
c.*183G>C (n.*183G>C)
c.*1707G>C (n.*1707G>C)
c.1457G>C (p.Gly486Ala)
c.1402-10776G>C (n.1402-10776G>C)
c.1793G>C (p.Gly598Ala)
c.1973G>C (p.Gly658Ala)
c.1640G>C (p.Gly547Ala)
 ClinVar dbSNP
7g.117592050G=CA1737394077CFTRc.1883G= (p.Gly628=)
c.*1597G= (n.*1597G=)
c.1700G= (p.Gly567=)
c.*183G= (n.*183G=)
c.*1707G= (n.*1707G=)
c.1457G= (p.Gly486=)
c.1402-10776G= (n.1402-10776G=)
c.1793G= (p.Gly598=)
c.1973G= (p.Gly658=)
c.1640G= (p.Gly547=)
7g.117592050G>TCA368978611CFTRc.1883G>T (p.Gly628Val)
c.*1597G>T (n.*1597G>T)
c.1700G>T (p.Gly567Val)
c.*183G>T (n.*183G>T)
c.*1707G>T (n.*1707G>T)
c.1457G>T (p.Gly486Val)
c.1402-10776G>T (n.1402-10776G>T)
c.1793G>T (p.Gly598Val)
c.1973G>T (p.Gly658Val)
c.1640G>T (p.Gly547Val)
7g.117592051G>ACA457448865CFTRc.1884G>A (p.Gly628=)
c.*1598G>A (n.*1598G>A)
c.1701G>A (p.Gly567=)
c.*184G>A (n.*184G>A)
c.*1708G>A (n.*1708G>A)
c.1458G>A (p.Gly486=)
c.1402-10775G>A (n.1402-10775G>A)
c.1794G>A (p.Gly598=)
c.1974G>A (p.Gly658=)
c.1641G>A (p.Gly547=)
 COSMIC
7g.117592051G>CCA457448866CFTRc.1884G>C (p.Gly628=)
c.*1598G>C (n.*1598G>C)
c.1701G>C (p.Gly567=)
c.*184G>C (n.*184G>C)
c.*1708G>C (n.*1708G>C)
c.1458G>C (p.Gly486=)
c.1402-10775G>C (n.1402-10775G>C)
c.1794G>C (p.Gly598=)
c.1974G>C (p.Gly658=)
c.1641G>C (p.Gly547=)
7g.117592051G=CA1737394087CFTRc.1884G= (p.Gly628=)
c.*1598G= (n.*1598G=)
c.1701G= (p.Gly567=)
c.*184G= (n.*184G=)
c.*1708G= (n.*1708G=)
c.1458G= (p.Gly486=)
c.1402-10775G= (n.1402-10775G=)
c.1794G= (p.Gly598=)
c.1974G= (p.Gly658=)
c.1641G= (p.Gly547=)
7g.117592051G>TCA457448867CFTRc.1884G>T (p.Gly628=)
c.*1598G>T (n.*1598G>T)
c.1701G>T (p.Gly567=)
c.*184G>T (n.*184G>T)
c.*1708G>T (n.*1708G>T)
c.1458G>T (p.Gly486=)
c.1402-10775G>T (n.1402-10775G>T)
c.1794G>T (p.Gly598=)
c.1974G>T (p.Gly658=)
c.1641G>T (p.Gly547=)
 dbSNP gnomAD v2
7g.117592052A=CA1737394089CFTRc.1885A= (p.Thr629=)
c.*1599A= (n.*1599A=)
c.1702A= (p.Thr568=)
c.*185A= (n.*185A=)
c.*1709A= (n.*1709A=)
c.1459A= (p.Thr487=)
c.1402-10774A= (n.1402-10774A=)
c.1795A= (p.Thr599=)
c.1975A= (p.Thr659=)
c.1642A= (p.Thr548=)
7g.117592052A>CCA368978617CFTRc.1885A>C (p.Thr629Pro)
c.*1599A>C (n.*1599A>C)
c.1702A>C (p.Thr568Pro)
c.*185A>C (n.*185A>C)
c.*1709A>C (n.*1709A>C)
c.1459A>C (p.Thr487Pro)
c.1402-10774A>C (n.1402-10774A>C)
c.1795A>C (p.Thr599Pro)
c.1975A>C (p.Thr659Pro)
c.1642A>C (p.Thr548Pro)
7g.117592052A>GCA368978619CFTRc.1885A>G (p.Thr629Ala)
c.*1599A>G (n.*1599A>G)
c.1702A>G (p.Thr568Ala)
c.*185A>G (n.*185A>G)
c.*1709A>G (n.*1709A>G)
c.1459A>G (p.Thr487Ala)
c.1402-10774A>G (n.1402-10774A>G)
c.1795A>G (p.Thr599Ala)
c.1975A>G (p.Thr659Ala)
c.1642A>G (p.Thr548Ala)
 dbSNP gnomAD v2 gnomAD v4
7g.117592052A>TCA368978621CFTRc.1885A>T (p.Thr629Ser)
c.*1599A>T (n.*1599A>T)
c.1702A>T (p.Thr568Ser)
c.*185A>T (n.*185A>T)
c.*1709A>T (n.*1709A>T)
c.1459A>T (p.Thr487Ser)
c.1402-10774A>T (n.1402-10774A>T)
c.1795A>T (p.Thr599Ser)
c.1975A>T (p.Thr659Ser)
c.1642A>T (p.Thr548Ser)
7g.117592053C>ACA368978622CFTRc.1886C>A (p.Thr629Lys)
c.*1600C>A (n.*1600C>A)
c.1703C>A (p.Thr568Lys)
c.*186C>A (n.*186C>A)
c.*1710C>A (n.*1710C>A)
c.1460C>A (p.Thr487Lys)
c.1402-10773C>A (n.1402-10773C>A)
c.1796C>A (p.Thr599Lys)
c.1976C>A (p.Thr659Lys)
c.1643C>A (p.Thr548Lys)
7g.117592053C=CA1737394095CFTRc.1886C= (p.Thr629=)
c.*1600C= (n.*1600C=)
c.1703C= (p.Thr568=)
c.*186C= (n.*186C=)
c.*1710C= (n.*1710C=)
c.1460C= (p.Thr487=)
c.1402-10773C= (n.1402-10773C=)
c.1796C= (p.Thr599=)
c.1976C= (p.Thr659=)
c.1643C= (p.Thr548=)
7g.117592053C>GCA368978624CFTRc.1886C>G (p.Thr629Arg)
c.*1600C>G (n.*1600C>G)
c.1703C>G (p.Thr568Arg)
c.*186C>G (n.*186C>G)
c.*1710C>G (n.*1710C>G)
c.1460C>G (p.Thr487Arg)
c.1402-10773C>G (n.1402-10773C>G)
c.1796C>G (p.Thr599Arg)
c.1976C>G (p.Thr659Arg)
c.1643C>G (p.Thr548Arg)
7g.117592053C>TCA368978631CFTRc.1886C>T (p.Thr629Ile)
c.*1600C>T (n.*1600C>T)
c.1703C>T (p.Thr568Ile)
c.*186C>T (n.*186C>T)
c.*1710C>T (n.*1710C>T)
c.1460C>T (p.Thr487Ile)
c.1402-10773C>T (n.1402-10773C>T)
c.1796C>T (p.Thr599Ile)
c.1976C>T (p.Thr659Ile)
c.1643C>T (p.Thr548Ile)
 dbSNP
7g.117592054A=CA1737394098CFTRc.1887A= (p.Thr629=)
c.*1601A= (n.*1601A=)
c.1704A= (p.Thr568=)
c.*187A= (n.*187A=)
c.*1711A= (n.*1711A=)
c.1461A= (p.Thr487=)
c.1402-10772A= (n.1402-10772A=)
c.1797A= (p.Thr599=)
c.1977A= (p.Thr659=)
c.1644A= (p.Thr548=)
7g.117592054A>CCA457448870CFTRc.1887A>C (p.Thr629=)
c.*1601A>C (n.*1601A>C)
c.1704A>C (p.Thr568=)
c.*187A>C (n.*187A>C)
c.*1711A>C (n.*1711A>C)
c.1461A>C (p.Thr487=)
c.1402-10772A>C (n.1402-10772A>C)
c.1797A>C (p.Thr599=)
c.1977A>C (p.Thr659=)
c.1644A>C (p.Thr548=)
7g.117592054A>GCA457448869CFTRc.1887A>G (p.Thr629=)
c.*1601A>G (n.*1601A>G)
c.1704A>G (p.Thr568=)
c.*187A>G (n.*187A>G)
c.*1711A>G (n.*1711A>G)
c.1461A>G (p.Thr487=)
c.1402-10772A>G (n.1402-10772A>G)
c.1797A>G (p.Thr599=)
c.1977A>G (p.Thr659=)
c.1644A>G (p.Thr548=)
7g.117592054A>TCA457448868CFTRc.1887A>T (p.Thr629=)
c.*1601A>T (n.*1601A>T)
c.1704A>T (p.Thr568=)
c.*187A>T (n.*187A>T)
c.*1711A>T (n.*1711A>T)
c.1461A>T (p.Thr487=)
c.1402-10772A>T (n.1402-10772A>T)
c.1797A>T (p.Thr599=)
c.1977A>T (p.Thr659=)
c.1644A>T (p.Thr548=)
7g.117592055T>ACA368978645CFTRc.1888T>A (p.Phe630Ile)
c.*1602T>A (n.*1602T>A)
c.1705T>A (p.Phe569Ile)
c.*188T>A (n.*188T>A)
c.*1712T>A (n.*1712T>A)
c.1462T>A (p.Phe488Ile)
c.1402-10771T>A (n.1402-10771T>A)
c.1798T>A (p.Phe600Ile)
c.1978T>A (p.Phe660Ile)
c.1645T>A (p.Phe549Ile)
7g.117592055T>CCA368978636CFTRc.1888T>C (p.Phe630Leu)
c.*1602T>C (n.*1602T>C)
c.1705T>C (p.Phe569Leu)
c.*188T>C (n.*188T>C)
c.*1712T>C (n.*1712T>C)
c.1462T>C (p.Phe488Leu)
c.1402-10771T>C (n.1402-10771T>C)
c.1798T>C (p.Phe600Leu)
c.1978T>C (p.Phe660Leu)
c.1645T>C (p.Phe549Leu)
 ClinVar
7g.117592055T>GCA368978643CFTRc.1888T>G (p.Phe630Val)
c.*1602T>G (n.*1602T>G)
c.1705T>G (p.Phe569Val)
c.*188T>G (n.*188T>G)
c.*1712T>G (n.*1712T>G)
c.1462T>G (p.Phe488Val)
c.1402-10771T>G (n.1402-10771T>G)
c.1798T>G (p.Phe600Val)
c.1978T>G (p.Phe660Val)
c.1645T>G (p.Phe549Val)
7g.117592058dupCA4451110CFTRc.1891dup (p.Ser631PhefsTer11)
c.*1605dup (n.*1605dup)
c.1708dup (p.Ser570PhefsTer11)
c.*191dup (n.*191dup)
c.*1715dup (n.*1715dup)
c.1465dup (p.Ser489PhefsTer11)
c.1402-10768dup (n.1402-10768dup)
c.1801dup (p.Ser601PhefsTer11)
c.1981dup (p.Ser661PhefsTer11)
c.1648dup (p.Ser550PhefsTer11)
 ClinVar dbSNP ExAC gnomAD v2
7g.117592056T>ACA368978647CFTRc.1889T>A (p.Phe630Tyr)
c.*1603T>A (n.*1603T>A)
c.1706T>A (p.Phe569Tyr)
c.*189T>A (n.*189T>A)
c.*1713T>A (n.*1713T>A)
c.1463T>A (p.Phe488Tyr)
c.1402-10770T>A (n.1402-10770T>A)
c.1799T>A (p.Phe600Tyr)
c.1979T>A (p.Phe660Tyr)
c.1646T>A (p.Phe549Tyr)
7g.117592056T>CCA368978648CFTRc.1889T>C (p.Phe630Ser)
c.*1603T>C (n.*1603T>C)
c.1706T>C (p.Phe569Ser)
c.*189T>C (n.*189T>C)
c.*1713T>C (n.*1713T>C)
c.1463T>C (p.Phe488Ser)
c.1402-10770T>C (n.1402-10770T>C)
c.1799T>C (p.Phe600Ser)
c.1979T>C (p.Phe660Ser)
c.1646T>C (p.Phe549Ser)
7g.117592056T>GCA368978651CFTRc.1889T>G (p.Phe630Cys)
c.*1603T>G (n.*1603T>G)
c.1706T>G (p.Phe569Cys)
c.*189T>G (n.*189T>G)
c.*1713T>G (n.*1713T>G)
c.1463T>G (p.Phe488Cys)
c.1402-10770T>G (n.1402-10770T>G)
c.1799T>G (p.Phe600Cys)
c.1979T>G (p.Phe660Cys)
c.1646T>G (p.Phe549Cys)
7g.117592057T>ACA368978654CFTRc.1890T>A (p.Phe630Leu)
c.*1604T>A (n.*1604T>A)
c.1707T>A (p.Phe569Leu)
c.*190T>A (n.*190T>A)
c.*1714T>A (n.*1714T>A)
c.1464T>A (p.Phe488Leu)
c.1402-10769T>A (n.1402-10769T>A)
c.1800T>A (p.Phe600Leu)
c.1980T>A (p.Phe660Leu)
c.1647T>A (p.Phe549Leu)
7g.117592057T>CCA457448871CFTRc.1890T>C (p.Phe630=)
c.*1604T>C (n.*1604T>C)
c.1707T>C (p.Phe569=)
c.*190T>C (n.*190T>C)
c.*1714T>C (n.*1714T>C)
c.1464T>C (p.Phe488=)
c.1402-10769T>C (n.1402-10769T>C)
c.1800T>C (p.Phe600=)
c.1980T>C (p.Phe660=)
c.1647T>C (p.Phe549=)
 ClinVar
7g.117592057T>GCA368978657CFTRc.1890T>G (p.Phe630Leu)
c.*1604T>G (n.*1604T>G)
c.1707T>G (p.Phe569Leu)
c.*190T>G (n.*190T>G)
c.*1714T>G (n.*1714T>G)
c.1464T>G (p.Phe488Leu)
c.1402-10769T>G (n.1402-10769T>G)
c.1800T>G (p.Phe600Leu)
c.1980T>G (p.Phe660Leu)
c.1647T>G (p.Phe549Leu)
7g.117592058T>ACA368978661CFTRc.1891T>A (p.Ser631Thr)
c.*1605T>A (n.*1605T>A)
c.1708T>A (p.Ser570Thr)
c.*191T>A (n.*191T>A)
c.*1715T>A (n.*1715T>A)
c.1465T>A (p.Ser489Thr)
c.1402-10768T>A (n.1402-10768T>A)
c.1801T>A (p.Ser601Thr)
c.1981T>A (p.Ser661Thr)
c.1648T>A (p.Ser550Thr)
7g.117592058T>CCA368978666CFTRc.1891T>C (p.Ser631Pro)
c.*1605T>C (n.*1605T>C)
c.1708T>C (p.Ser570Pro)
c.*191T>C (n.*191T>C)
c.*1715T>C (n.*1715T>C)
c.1465T>C (p.Ser489Pro)
c.1402-10768T>C (n.1402-10768T>C)
c.1801T>C (p.Ser601Pro)
c.1981T>C (p.Ser661Pro)
c.1648T>C (p.Ser550Pro)
 COSMIC
7g.117592058T>GCA368978664CFTRc.1891T>G (p.Ser631Ala)
c.*1605T>G (n.*1605T>G)
c.1708T>G (p.Ser570Ala)
c.*191T>G (n.*191T>G)
c.*1715T>G (n.*1715T>G)
c.1465T>G (p.Ser489Ala)
c.1402-10768T>G (n.1402-10768T>G)
c.1801T>G (p.Ser601Ala)
c.1981T>G (p.Ser661Ala)
c.1648T>G (p.Ser550Ala)
7g.117592059C>ACA368978670CFTRc.1892C>A (p.Ser631Ter)
c.*1606C>A (n.*1606C>A)
c.1709C>A (p.Ser570Ter)
c.*192C>A (n.*192C>A)
c.*1716C>A (n.*1716C>A)
c.1466C>A (p.Ser489Ter)
c.1402-10767C>A (n.1402-10767C>A)
c.1802C>A (p.Ser601Ter)
c.1982C>A (p.Ser661Ter)
c.1649C>A (p.Ser550Ter)
7g.117592059C>GCA368978674CFTRc.1892C>G (p.Ser631Ter)
c.*1606C>G (n.*1606C>G)
c.1709C>G (p.Ser570Ter)
c.*192C>G (n.*192C>G)
c.*1716C>G (n.*1716C>G)
c.1466C>G (p.Ser489Ter)
c.1402-10767C>G (n.1402-10767C>G)
c.1802C>G (p.Ser601Ter)
c.1982C>G (p.Ser661Ter)
c.1649C>G (p.Ser550Ter)
7g.117592059C>TCA368978677CFTRc.1892C>T (p.Ser631Leu)
c.*1606C>T (n.*1606C>T)
c.1709C>T (p.Ser570Leu)
c.*192C>T (n.*192C>T)
c.*1716C>T (n.*1716C>T)
c.1466C>T (p.Ser489Leu)
c.1402-10767C>T (n.1402-10767C>T)
c.1802C>T (p.Ser601Leu)
c.1982C>T (p.Ser661Leu)
c.1649C>T (p.Ser550Leu)
7g.117592060_117592064delCA2580076505CFTRc.1893_1897del (p.Glu632ProfsTer8)
c.*1607_*1611del (n.*1607_*1611del)
c.1710_1714del (p.Glu571ProfsTer8)
c.*193_*197del (n.*193_*197del)
c.*1717_*1721del (n.*1717_*1721del)
c.1467_1471del (p.Glu490ProfsTer8)
c.1402-10766_1402-10762del (n.1402-10766_1402-10762del)
c.1803_1807del (p.Glu602ProfsTer8)
c.1983_1987del (p.Glu662ProfsTer8)
c.1650_1654del (p.Glu551ProfsTer8)
 ClinVar
7g.117592060A>CCA457448872CFTRc.1893A>C (p.Ser631=)
c.*1607A>C (n.*1607A>C)
c.1710A>C (p.Ser570=)
c.*193A>C (n.*193A>C)
c.*1717A>C (n.*1717A>C)
c.1467A>C (p.Ser489=)
c.1402-10766A>C (n.1402-10766A>C)
c.1803A>C (p.Ser601=)
c.1983A>C (p.Ser661=)
c.1650A>C (p.Ser550=)
7g.117592060A>GCA457448874CFTRc.1893A>G (p.Ser631=)
c.*1607A>G (n.*1607A>G)
c.1710A>G (p.Ser570=)
c.*193A>G (n.*193A>G)
c.*1717A>G (n.*1717A>G)
c.1467A>G (p.Ser489=)
c.1402-10766A>G (n.1402-10766A>G)
c.1803A>G (p.Ser601=)
c.1983A>G (p.Ser661=)
c.1650A>G (p.Ser550=)
7g.117592060A>TCA457448873CFTRc.1893A>T (p.Ser631=)
c.*1607A>T (n.*1607A>T)
c.1710A>T (p.Ser570=)
c.*193A>T (n.*193A>T)
c.*1717A>T (n.*1717A>T)
c.1467A>T (p.Ser489=)
c.1402-10766A>T (n.1402-10766A>T)
c.1803A>T (p.Ser601=)
c.1983A>T (p.Ser661=)
c.1650A>T (p.Ser550=)
7g.117592061G>ACA368978681CFTRc.1894G>A (p.Glu632Lys)
c.*1608G>A (n.*1608G>A)
c.1711G>A (p.Glu571Lys)
c.*194G>A (n.*194G>A)
c.*1718G>A (n.*1718G>A)
c.1468G>A (p.Glu490Lys)
c.1402-10765G>A (n.1402-10765G>A)
c.1804G>A (p.Glu602Lys)
c.1984G>A (p.Glu662Lys)
c.1651G>A (p.Glu551Lys)
 gnomAD v4
7g.117592061G>CCA368978683CFTRc.1894G>C (p.Glu632Gln)
c.*1608G>C (n.*1608G>C)
c.1711G>C (p.Glu571Gln)
c.*194G>C (n.*194G>C)
c.*1718G>C (n.*1718G>C)
c.1468G>C (p.Glu490Gln)
c.1402-10765G>C (n.1402-10765G>C)
c.1804G>C (p.Glu602Gln)
c.1984G>C (p.Glu662Gln)
c.1651G>C (p.Glu551Gln)
7g.117592061G>TCA368978686CFTRc.1894G>T (p.Glu632Ter)
c.*1608G>T (n.*1608G>T)
c.1711G>T (p.Glu571Ter)
c.*194G>T (n.*194G>T)
c.*1718G>T (n.*1718G>T)
c.1468G>T (p.Glu490Ter)
c.1402-10765G>T (n.1402-10765G>T)
c.1804G>T (p.Glu602Ter)
c.1984G>T (p.Glu662Ter)
c.1651G>T (p.Glu551Ter)
7g.117592062A>CCA368978690CFTRc.1895A>C (p.Glu632Ala)
c.*1609A>C (n.*1609A>C)
c.1712A>C (p.Glu571Ala)
c.*195A>C (n.*195A>C)
c.*1719A>C (n.*1719A>C)
c.1469A>C (p.Glu490Ala)
c.1402-10764A>C (n.1402-10764A>C)
c.1805A>C (p.Glu602Ala)
c.1985A>C (p.Glu662Ala)
c.1652A>C (p.Glu551Ala)
7g.117592062A>GCA368978694CFTRc.1895A>G (p.Glu632Gly)
c.*1609A>G (n.*1609A>G)
c.1712A>G (p.Glu571Gly)
c.*195A>G (n.*195A>G)
c.*1719A>G (n.*1719A>G)
c.1469A>G (p.Glu490Gly)
c.1402-10764A>G (n.1402-10764A>G)
c.1805A>G (p.Glu602Gly)
c.1985A>G (p.Glu662Gly)
c.1652A>G (p.Glu551Gly)
7g.117592062A>TCA368978697CFTRc.1895A>T (p.Glu632Val)
c.*1609A>T (n.*1609A>T)
c.1712A>T (p.Glu571Val)
c.*195A>T (n.*195A>T)
c.*1719A>T (n.*1719A>T)
c.1469A>T (p.Glu490Val)
c.1402-10764A>T (n.1402-10764A>T)
c.1805A>T (p.Glu602Val)
c.1985A>T (p.Glu662Val)
c.1652A>T (p.Glu551Val)
7g.117592063A>CCA368978699CFTRc.1896A>C (p.Glu632Asp)
c.*1610A>C (n.*1610A>C)
c.1713A>C (p.Glu571Asp)
c.*196A>C (n.*196A>C)
c.*1720A>C (n.*1720A>C)
c.1470A>C (p.Glu490Asp)
c.1402-10763A>C (n.1402-10763A>C)
c.1806A>C (p.Glu602Asp)
c.1986A>C (p.Glu662Asp)
c.1653A>C (p.Glu551Asp)
7g.117592063A>GCA457448875CFTRc.1896A>G (p.Glu632=)
c.*1610A>G (n.*1610A>G)
c.1713A>G (p.Glu571=)
c.*196A>G (n.*196A>G)
c.*1720A>G (n.*1720A>G)
c.1470A>G (p.Glu490=)
c.1402-10763A>G (n.1402-10763A>G)
c.1806A>G (p.Glu602=)
c.1986A>G (p.Glu662=)
c.1653A>G (p.Glu551=)
7g.117592063A>TCA368978701CFTRc.1896A>T (p.Glu632Asp)
c.*1610A>T (n.*1610A>T)
c.1713A>T (p.Glu571Asp)
c.*196A>T (n.*196A>T)
c.*1720A>T (n.*1720A>T)
c.1470A>T (p.Glu490Asp)
c.1402-10763A>T (n.1402-10763A>T)
c.1806A>T (p.Glu602Asp)
c.1986A>T (p.Glu662Asp)
c.1653A>T (p.Glu551Asp)
7g.117592064C>ACA326708CFTRc.1897C>A (p.Leu633Ile)
c.*1611C>A (n.*1611C>A)
c.1714C>A (p.Leu572Ile)
c.*197C>A (n.*197C>A)
c.*1721C>A (n.*1721C>A)
c.1471C>A (p.Leu491Ile)
c.1402-10762C>A (n.1402-10762C>A)
c.1807C>A (p.Leu603Ile)
c.1987C>A (p.Leu663Ile)
c.1654C>A (p.Leu552Ile)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.117592064C=CA1737394103CFTRc.1897C= (p.Leu633=)
c.*1611C= (n.*1611C=)
c.1714C= (p.Leu572=)
c.*197C= (n.*197C=)
c.*1721C= (n.*1721C=)
c.1471C= (p.Leu491=)
c.1402-10762C= (n.1402-10762C=)
c.1807C= (p.Leu603=)
c.1987C= (p.Leu663=)
c.1654C= (p.Leu552=)
7g.117592064C>GCA368978706CFTRc.1897C>G (p.Leu633Val)
c.*1611C>G (n.*1611C>G)
c.1714C>G (p.Leu572Val)
c.*197C>G (n.*197C>G)
c.*1721C>G (n.*1721C>G)
c.1471C>G (p.Leu491Val)
c.1402-10762C>G (n.1402-10762C>G)
c.1807C>G (p.Leu603Val)
c.1987C>G (p.Leu663Val)
c.1654C>G (p.Leu552Val)
 dbSNP gnomAD v3 gnomAD v4
7g.117592064C>TCA368978704CFTRc.1897C>T (p.Leu633Phe)
c.*1611C>T (n.*1611C>T)
c.1714C>T (p.Leu572Phe)
c.*197C>T (n.*197C>T)
c.*1721C>T (n.*1721C>T)
c.1471C>T (p.Leu491Phe)
c.1402-10762C>T (n.1402-10762C>T)
c.1807C>T (p.Leu603Phe)
c.1987C>T (p.Leu663Phe)
c.1654C>T (p.Leu552Phe)
7g.117592065T>ACA368978707CFTRc.1898T>A (p.Leu633His)
c.*1612T>A (n.*1612T>A)
c.1715T>A (p.Leu572His)
c.*198T>A (n.*198T>A)
c.*1722T>A (n.*1722T>A)
c.1472T>A (p.Leu491His)
c.1402-10761T>A (n.1402-10761T>A)
c.1808T>A (p.Leu603His)
c.1988T>A (p.Leu663His)
c.1655T>A (p.Leu552His)
7g.117592065T>CCA326710CFTRc.1898T>C (p.Leu633Pro)
c.*1612T>C (n.*1612T>C)
c.1715T>C (p.Leu572Pro)
c.*198T>C (n.*198T>C)
c.*1722T>C (n.*1722T>C)
c.1472T>C (p.Leu491Pro)
c.1402-10761T>C (n.1402-10761T>C)
c.1808T>C (p.Leu603Pro)
c.1988T>C (p.Leu663Pro)
c.1655T>C (p.Leu552Pro)
 ClinVar dbSNP
7g.117592065T>GCA368978710CFTRc.1898T>G (p.Leu633Arg)
c.*1612T>G (n.*1612T>G)
c.1715T>G (p.Leu572Arg)
c.*198T>G (n.*198T>G)
c.*1722T>G (n.*1722T>G)
c.1472T>G (p.Leu491Arg)
c.1402-10761T>G (n.1402-10761T>G)
c.1808T>G (p.Leu603Arg)
c.1988T>G (p.Leu663Arg)
c.1655T>G (p.Leu552Arg)
7g.117592065T=CA1737394109CFTRc.1898T= (p.Leu633=)
c.*1612T= (n.*1612T=)
c.1715T= (p.Leu572=)
c.*198T= (n.*198T=)
c.*1722T= (n.*1722T=)
c.1472T= (p.Leu491=)
c.1402-10761T= (n.1402-10761T=)
c.1808T= (p.Leu603=)
c.1988T= (p.Leu663=)
c.1655T= (p.Leu552=)
7g.117592066C>ACA457448876CFTRc.1899C>A (p.Leu633=)
c.*1613C>A (n.*1613C>A)
c.1716C>A (p.Leu572=)
c.*199C>A (n.*199C>A)
c.*1723C>A (n.*1723C>A)
c.1473C>A (p.Leu491=)
c.1402-10760C>A (n.1402-10760C>A)
c.1809C>A (p.Leu603=)
c.1989C>A (p.Leu663=)
c.1656C>A (p.Leu552=)
7g.117592066C=CA1737394115CFTRc.1899C= (p.Leu633=)
c.*1613C= (n.*1613C=)
c.1716C= (p.Leu572=)
c.*199C= (n.*199C=)
c.*1723C= (n.*1723C=)
c.1473C= (p.Leu491=)
c.1402-10760C= (n.1402-10760C=)
c.1809C= (p.Leu603=)
c.1989C= (p.Leu663=)
c.1656C= (p.Leu552=)
7g.117592066C>GCA457448877CFTRc.1899C>G (p.Leu633=)
c.*1613C>G (n.*1613C>G)
c.1716C>G (p.Leu572=)
c.*199C>G (n.*199C>G)
c.*1723C>G (n.*1723C>G)
c.1473C>G (p.Leu491=)
c.1402-10760C>G (n.1402-10760C>G)
c.1809C>G (p.Leu603=)
c.1989C>G (p.Leu663=)
c.1656C>G (p.Leu552=)
7g.117592066C>TCA457448878CFTRc.1899C>T (p.Leu633=)
c.*1613C>T (n.*1613C>T)
c.1716C>T (p.Leu572=)
c.*199C>T (n.*199C>T)
c.*1723C>T (n.*1723C>T)
c.1473C>T (p.Leu491=)
c.1402-10760C>T (n.1402-10760C>T)
c.1809C>T (p.Leu603=)
c.1989C>T (p.Leu663=)
c.1656C>T (p.Leu552=)
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC

Number of alleles fetched