Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.117591251_117595608delinsCTACATTTGTACTA | CA2580076490 | CFTR | c.1767-683_2619+550delinsCTACATTTGTACTA c.*1481-683_*2333+550delinsCTACATTTGTACTA c.1584-683_2436+550delinsCTACATTTGTACTA c.*67-683_*919+550delinsCTACATTTGTACTA c.*1591-683_*2443+550delinsCTACATTTGTACTA c.1341-683_2193+550delinsCTACATTTGTACTA c.1402-11575_1402-7218delinsCTACATTTGTACTA (n.1402-11575_1402-7218delinsCTACATTTGTACTA) c.1677-683_2529+550delinsCTACATTTGTACTA c.1857-683_2709+550delinsCTACATTTGTACTA c.1524-683_2376+550delinsCTACATTTGTACTA | ClinVar |
7 | g.117591967del | CA2695208502 | CFTR | c.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) | |
7 | g.117591967G>A | CA457448823 | CFTR | c.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 |
7 | g.117591967G>C | CA368977947 | CFTR | c.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) | |
7 | g.117591967G>T | CA368977948 | CFTR | c.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) | |
7 | g.117591967_117591968delinsGA | CA1737393856 | CFTR | c.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=) | |
7 | g.117591968del | CA1139660229 | CFTR | c.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 |
7 | g.117591968A= | CA1737393862 | CFTR | c.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=) | |
7 | g.117591968A>C | CA368977952 | CFTR | c.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) | ClinVar |
7 | g.117591968A>G | CA368977959 | CFTR | c.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 |
7 | g.117591968A>T | CA326681 | CFTR | c.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 |
7 | g.117591969T>A | CA368977962 | CFTR | c.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) | |
7 | g.117591969T>C | CA326682 | CFTR | c.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 |
7 | g.117591969T>G | CA368977979 | CFTR | c.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) | |
7 | g.117591969T= | CA1737393872 | CFTR | c.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=) | |
7 | g.117591972del | CA2684619353 | CFTR | c.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 |
7 | g.117591970T>A | CA457448824 | CFTR | c.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=) | |
7 | g.117591970T>C | CA457448825 | CFTR | c.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=) | |
7 | g.117591970T>G | CA368977985 | CFTR | c.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) | |
7 | g.117591971T>A | CA368977986 | CFTR | c.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) | |
7 | g.117591971T>C | CA457448826 | CFTR | c.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 |
7 | g.117591971T>G | CA368977987 | CFTR | c.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) | |
7 | g.117591971T= | CA1737393878 | CFTR | c.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=) | |
7 | g.117591972T>A | CA368977989 | CFTR | c.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) | |
7 | g.117591972T>C | CA368977994 | CFTR | c.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) | |
7 | g.117591972T>G | CA368977997 | CFTR | c.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) | |
7 | g.117591973G>A | CA457448827 | CFTR | c.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=) | |
7 | g.117591973G>C | CA368978001 | CFTR | c.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) | |
7 | g.117591973G>T | CA368978005 | CFTR | c.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 |
7 | g.117591974del | CA2580076498 | CFTR | c.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 |
7 | g.117591974G>A | CA4451099 | CFTR | c.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 |
7 | g.117591974G>C | CA368978013 | CFTR | c.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) | |
7 | g.117591974G= | CA1737393883 | CFTR | c.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=) | |
7 | g.117591974G>T | CA326684 | CFTR | c.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 |
7 | g.117591975T>A | CA368978016 | CFTR | c.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) | |
7 | g.117591975T>C | CA4451100 | CFTR | c.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 |
7 | g.117591975T>G | CA368978021 | CFTR | c.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) | |
7 | g.117591975T= | CA1737393890 | CFTR | c.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=) | |
7 | g.117591976C>A | CA457448828 | CFTR | c.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 |
7 | g.117591976C= | CA1737393893 | CFTR | c.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=) | |
7 | g.117591976C>G | CA457448829 | CFTR | c.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=) | |
7 | g.117591976C>T | CA4451101 | CFTR | c.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 |
7 | g.117591977A= | CA1737393901 | CFTR | c.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=) | |
7 | g.117591977A>C | CA368978040 | CFTR | c.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 |
7 | g.117591977A>G | CA368978037 | CFTR | c.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) | |
7 | g.117591977A>T | CA368978029 | CFTR | c.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) | |
7 | g.117591978del | CA2739278626 | CFTR | c.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 |
7 | g.117591978C>A | CA368978046 | CFTR | c.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) | |
7 | g.117591978C= | CA1737393908 | CFTR | c.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=) | |
7 | g.117591978C>G | CA326686 | CFTR | c.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 |
7 | g.117591978C>T | CA326688 | CFTR | c.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 |
7 | g.117591979T>A | CA457448830 | CFTR | c.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=) | |
7 | g.117591979T>C | CA457448832 | CFTR | c.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=) | |
7 | g.117591979T>G | CA457448831 | CFTR | c.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=) | |
7 | g.117591980T>A | CA368978055 | CFTR | c.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) | |
7 | g.117591980T>C | CA4451102 | CFTR | c.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 |
7 | g.117591980T>G | CA368978060 | CFTR | c.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) | |
7 | g.117591980T= | CA1737393916 | CFTR | c.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=) | |
7 | g.117591981C>A | CA368978072 | CFTR | c.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) | |
7 | g.117591981C= | CA1737393918 | CFTR | c.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=) | |
7 | g.117591981C>G | CA368978067 | CFTR | c.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) | |
7 | g.117591981C>T | CA164947442 | CFTR | c.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 |
7 | g.117591982T>A | CA457448833 | CFTR | c.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=) | |
7 | g.117591982T>C | CA457448834 | CFTR | c.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 |
7 | g.117591982T>G | CA457448835 | CFTR | c.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=) | |
7 | g.117591982T= | CA1737393921 | CFTR | c.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=) | |
7 | g.117591983A= | CA1737393926 | CFTR | c.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=) | |
7 | g.117591983A>C | CA368978076 | CFTR | c.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) | |
7 | g.117591983A>G | CA368978081 | CFTR | c.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 |
7 | g.117591983A>T | CA368978088 | CFTR | c.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) | |
7 | g.117591983_117592067delinsAAAATGGAACATTTAAAGAAAGCTGACAAAATATTAATTTTGCATGAAGGTAGCAGCTATTTTTATGGGACATTTTCAGAACTCC | CA1737393925 | CFTR | c.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=) | |
7 | g.117591983_117591984insGGAGTTCTGAAAATGTCCCATAAAAATAGCTGCTACCTTCATGCAAAATTAATATTTTGTCAGCTTTCTTTAAATGTTCCATTT | CA164947456 | CFTR | c.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 |
7 | g.117591984A>C | CA368978097 | CFTR | c.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) | |
7 | g.117591984A>G | CA368978099 | CFTR | c.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) | |
7 | g.117591984A>T | CA368978103 | CFTR | c.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) | |
7 | g.117591987_117592070dup | CA918111646 | CFTR | c.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 |
7 | g.117591987_117592070del | CA325542 | CFTR | c.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 |
7 | g.117591985A>C | CA368978111 | CFTR | c.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) | |
7 | g.117591985A>G | CA457448836 | CFTR | c.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=) | |
7 | g.117591985A>T | CA368978115 | CFTR | c.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) | |
7 | g.117591986A>C | CA368978131 | CFTR | c.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) | |
7 | g.117591986A>G | CA368978134 | CFTR | c.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) | |
7 | g.117591986A>T | CA368978137 | CFTR | c.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) | |
7 | g.117591987T>A | CA368978149 | CFTR | c.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) | |
7 | g.117591987T>C | CA368978145 | CFTR | c.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) | ClinVar gnomAD v4 |
7 | g.117591987T>G | CA368978141 | CFTR | c.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) | |
7 | g.117591988G>A | CA368978154 | CFTR | c.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 |
7 | g.117591988G>C | CA368978156 | CFTR | c.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) | |
7 | g.117591988G= | CA1737393934 | CFTR | c.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=) | |
7 | g.117591988G>T | CA368978159 | CFTR | c.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) | |
7 | g.117591989del | CA2580076499 | CFTR | c.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 |
7 | g.117591989G>A | CA368978165 | CFTR | c.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 |
7 | g.117591989G>C | CA368978168 | CFTR | c.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 |
7 | g.117591989G>T | CA368978172 | CFTR | c.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) | |
7 | g.117591990A= | CA1737393937 | CFTR | c.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=) | |
7 | g.117591990A>C | CA368978191 | CFTR | c.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) | |
7 | g.117591990A>G | CA326690 | CFTR | c.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 |
7 | g.117591990A>T | CA368978183 | CFTR | c.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) | |
7 | g.117591991A>C | CA368978196 | CFTR | c.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) | |
7 | g.117591991A>G | CA457448837 | CFTR | c.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 |
7 | g.117591991A>T | CA368978198 | CFTR | c.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) | |
7 | g.117591992C>A | CA368978200 | CFTR | c.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 |
7 | g.117591992C>G | CA368978205 | CFTR | c.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) | |
7 | g.117591992C>T | CA368978208 | CFTR | c.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 |
7 | g.117591993A= | CA1737393950 | CFTR | c.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=) | |
7 | g.117591993A>C | CA368978213 | CFTR | c.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) | |
7 | g.117591993A>G | CA326692 | CFTR | c.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 |
7 | g.117591993A>T | CA326694 | CFTR | c.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 |
7 | g.117591994T>A | CA368978218 | CFTR | c.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) | |
7 | g.117591994T>C | CA457448838 | CFTR | c.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=) | |
7 | g.117591994T>G | CA368978219 | CFTR | c.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) | |
7 | g.117591995T>A | CA4451103 | CFTR | c.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 |
7 | g.117591995T>C | CA457448839 | CFTR | c.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 |
7 | g.117591995T>G | CA368978224 | CFTR | c.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) | |
7 | g.117591995T= | CA1737393957 | CFTR | c.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=) | |
7 | g.117591996T>A | CA368978227 | CFTR | c.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) | |
7 | g.117591996T>C | CA326696 | CFTR | c.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 |
7 | g.117591996T>G | CA368978230 | CFTR | c.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) | |
7 | g.117591996T= | CA1737393962 | CFTR | c.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=) | |
7 | g.117591997A= | CA1737393970 | CFTR | c.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=) | |
7 | g.117591997A>C | CA368978231 | CFTR | c.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 |
7 | g.117591997A>G | CA164947489 | CFTR | c.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 |
7 | g.117591997A>T | CA368978234 | CFTR | c.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 |
7 | g.117591998A= | CA1737393975 | CFTR | c.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=) | |
7 | g.117591998A>C | CA368978236 | CFTR | c.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) | |
7 | g.117591998A>G | CA368978237 | CFTR | c.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) | |
7 | g.117591998A>T | CA368978238 | CFTR | c.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 |
7 | g.117591999A>C | CA368978241 | CFTR | c.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) | |
7 | g.117591999A>G | CA368978250 | CFTR | c.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) | |
7 | g.117591999A>T | CA368978244 | CFTR | c.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) | |
7 | g.117592000G>A | CA457448840 | CFTR | c.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 |
7 | g.117592000G>C | CA368978254 | CFTR | c.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 |
7 | g.117592000G>T | CA368978256 | CFTR | c.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) | |
7 | g.117592001A>C | CA368978262 | CFTR | c.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) | |
7 | g.117592001A>G | CA368978265 | CFTR | c.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) | |
7 | g.117592001A>T | CA368978268 | CFTR | c.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) | |
7 | g.117592002A>C | CA368978269 | CFTR | c.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) | |
7 | g.117592002A>G | CA368978270 | CFTR | c.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) | |
7 | g.117592002A>T | CA368978272 | CFTR | c.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) | |
7 | g.117592003A>C | CA368978278 | CFTR | c.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) | |
7 | g.117592003A>G | CA457448841 | CFTR | c.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=) | |
7 | g.117592003A>T | CA368978275 | CFTR | c.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) | |
7 | g.117592004G>A | CA326697 | CFTR | c.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 |
7 | g.117592004G>C | CA368978283 | CFTR | c.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) | |
7 | g.117592004G= | CA1737393982 | CFTR | c.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=) | |
7 | g.117592004G>T | CA368978285 | CFTR | c.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) | |
7 | g.117592005C>A | CA368978287 | CFTR | c.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 |
7 | g.117592005C>G | CA368978290 | CFTR | c.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) | |
7 | g.117592005C>T | CA368978297 | CFTR | c.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) | |
7 | g.117592006T>A | CA457448842 | CFTR | c.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=) | |
7 | g.117592006T>C | CA457448843 | CFTR | c.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=) | |
7 | g.117592006T>G | CA457448844 | CFTR | c.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=) | |
7 | g.117592007G>A | CA368978302 | CFTR | c.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 |
7 | g.117592007G>C | CA368978308 | CFTR | c.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) | |
7 | g.117592007G= | CA1737393991 | CFTR | c.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=) | |
7 | g.117592007G>T | CA326698 | CFTR | c.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 |
7 | g.117592008A= | CA1737393996 | CFTR | c.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=) | |
7 | g.117592008A>C | CA368978314 | CFTR | c.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) | |
7 | g.117592008A>G | CA326700 | CFTR | c.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 |
7 | g.117592008A>T | CA368978322 | CFTR | c.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) | |
7 | g.117592009C>A | CA368978339 | CFTR | c.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 |
7 | g.117592009C>G | CA368978346 | CFTR | c.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) | |
7 | g.117592009C>T | CA457448845 | CFTR | c.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=) | |
7 | g.117592010A>C | CA368978352 | CFTR | c.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) | |
7 | g.117592010A>G | CA368978357 | CFTR | c.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) | |
7 | g.117592010A>T | CA368978358 | CFTR | c.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) | |
7 | g.117592011A>C | CA368978361 | CFTR | c.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 |
7 | g.117592011A>G | CA368978363 | CFTR | c.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 |
7 | g.117592011A>T | CA368978367 | CFTR | c.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) | |
7 | g.117592012A= | CA1737394002 | CFTR | c.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=) | |
7 | g.117592012A>C | CA368978369 | CFTR | c.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) | |
7 | g.117592012A>G | CA457448846 | CFTR | c.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 |
7 | g.117592012A>T | CA368978372 | CFTR | c.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) | |
7 | g.117592013A= | CA1737394007 | CFTR | c.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=) | |
7 | g.117592013A>C | CA368978375 | CFTR | c.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) | |
7 | g.117592013A>G | CA4451104 | CFTR | c.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 |
7 | g.117592013A>T | CA368978380 | CFTR | c.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) | |
7 | g.117592014T>A | CA368978385 | CFTR | c.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) | |
7 | g.117592014T>C | CA368978389 | CFTR | c.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) | ClinVar gnomAD v4 |
7 | g.117592014T>G | CA368978391 | CFTR | c.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) | |
7 | g.117592016_117592018del | CA2580076501 | CFTR | c.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 |
7 | g.117592015A>C | CA457448847 | CFTR | c.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=) | |
7 | g.117592015A>G | CA368978394 | CFTR | c.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 |
7 | g.117592015A>T | CA457448848 | CFTR | c.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=) | |
7 | g.117592016T>A | CA368978404 | CFTR | c.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) | |
7 | g.117592016T>C | CA457448849 | CFTR | c.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=) | |
7 | g.117592016T>G | CA368978407 | CFTR | c.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) | |
7 | g.117592017T>A | CA368978411 | CFTR | c.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) | |
7 | g.117592017T>C | CA368978413 | CFTR | c.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) | |
7 | g.117592017T>G | CA368978414 | CFTR | c.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) | |
7 | g.117592018A= | CA1737394009 | CFTR | c.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=) | |
7 | g.117592018A>C | CA368978418 | CFTR | c.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) | |
7 | g.117592018A>G | CA457448850 | CFTR | c.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=) | |
7 | g.117592018A>T | CA4451105 | CFTR | c.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 |
7 | g.117592020_117592030del | CA2695208503 | CFTR | c.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) | |
7 | g.117592019A= | CA1737394013 | CFTR | c.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=) | |
7 | g.117592019A>C | CA368978426 | CFTR | c.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) | |
7 | g.117592019A>G | CA368978430 | CFTR | c.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 |
7 | g.117592019A>T | CA368978428 | CFTR | c.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) | |
7 | g.117592020T>A | CA368978433 | CFTR | c.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) | |
7 | g.117592020T>C | CA221010 | CFTR | c.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 |
7 | g.117592020T>G | CA368978438 | CFTR | c.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) | |
7 | g.117592020T= | CA1737394020 | CFTR | c.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=) | |
7 | g.117592021T>A | CA457448851 | CFTR | c.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=) | |
7 | g.117592021T>C | CA457448852 | CFTR | c.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=) | |
7 | g.117592021T>G | CA368978442 | CFTR | c.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) | |
7 | g.117592022T>A | CA368978445 | CFTR | c.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) | |
7 | g.117592022T>C | CA457448853 | CFTR | c.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=) | |
7 | g.117592022T>G | CA368978448 | CFTR | c.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) | |
7 | g.117592023T>A | CA368978452 | CFTR | c.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) | |
7 | g.117592023T>C | CA326701 | CFTR | c.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 |
7 | g.117592023T>G | CA368978459 | CFTR | c.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) | |
7 | g.117592023T= | CA1737394023 | CFTR | c.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=) | |
7 | g.117592024G>A | CA457448854 | CFTR | c.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=) | |
7 | g.117592024G>C | CA368978463 | CFTR | c.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) | |
7 | g.117592024G>T | CA368978465 | CFTR | c.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 |
7 | g.117592025C>A | CA368978472 | CFTR | c.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 |
7 | g.117592025C>G | CA368978474 | CFTR | c.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) | |
7 | g.117592025C>T | CA368978469 | CFTR | c.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 |
7 | g.117592026A= | CA1737394026 | CFTR | c.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=) | |
7 | g.117592026A>C | CA326702 | CFTR | c.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 |
7 | g.117592026A>G | CA4451106 | CFTR | c.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 |
7 | g.117592026A>T | CA4451107 | CFTR | c.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 |
7 | g.117592027T>A | CA368978481 | CFTR | c.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) | |
7 | g.117592027T>C | CA457448855 | CFTR | c.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 |
7 | g.117592027T>G | CA326703 | CFTR | c.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 |
7 | g.117592027T= | CA1737394035 | CFTR | c.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=) | |
7 | g.117592027dup | CA2695208504 | CFTR | c.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) | |
7 | g.117592028G>A | CA368978489 | CFTR | c.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 |
7 | g.117592028G>C | CA368978490 | CFTR | c.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) | |
7 | g.117592028G= | CA1737394038 | CFTR | c.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=) | |
7 | g.117592028G>T | CA368978491 | CFTR | c.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 |
7 | g.117592029A= | CA1737394042 | CFTR | c.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=) | |
7 | g.117592029A>C | CA368978492 | CFTR | c.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) | |
7 | g.117592029A>G | CA368978493 | CFTR | c.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 |
7 | g.117592029A>T | CA368978495 | CFTR | c.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) | |
7 | g.117592030A>C | CA368978498 | CFTR | c.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) | |
7 | g.117592030A>G | CA457448856 | CFTR | c.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 |
7 | g.117592030A>T | CA368978500 | CFTR | c.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) | |
7 | g.117592031G>A | CA368978503 | CFTR | c.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) | |
7 | g.117592031G>C | CA368978505 | CFTR | c.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) | |
7 | g.117592031G>T | CA368978508 | CFTR | c.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) | |
7 | g.117592032G>A | CA326704 | CFTR | c.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 |
7 | g.117592032G>C | CA368978514 | CFTR | c.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) | |
7 | g.117592032G= | CA1737394048 | CFTR | c.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=) | |
7 | g.117592032G>T | CA368978513 | CFTR | c.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) | |
7 | g.117592033T>A | CA457448857 | CFTR | c.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=) | |
7 | g.117592033T>C | CA457448859 | CFTR | c.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 |
7 | g.117592033T>G | CA457448858 | CFTR | c.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=) | |
7 | g.117592034A>C | CA368978518 | CFTR | c.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) | |
7 | g.117592034A>G | CA368978520 | CFTR | c.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) | |
7 | g.117592034A>T | CA368978523 | CFTR | c.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) | |
7 | g.117592034dup | CA2580076503 | CFTR | c.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 |
7 | g.117592034_117592036delinsG | CA2580076502 | CFTR | c.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 |
7 | g.117592035G>A | CA368978526 | CFTR | c.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) | |
7 | g.117592035G>C | CA368978528 | CFTR | c.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) | |
7 | g.117592035G>T | CA368978529 | CFTR | c.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) | |
7 | g.117592036C>A | CA368978530 | CFTR | c.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) | |
7 | g.117592036C>G | CA368978532 | CFTR | c.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) | |
7 | g.117592036C>T | CA457448860 | CFTR | c.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=) | |
7 | g.117592037A>C | CA368978534 | CFTR | c.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) | |
7 | g.117592037A>G | CA368978536 | CFTR | c.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) | |
7 | g.117592037A>T | CA368978539 | CFTR | c.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 |
7 | g.117592037_117592045delinsAGCTATTTT | CA1737394053 | CFTR | c.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=) | |
7 | g.117592038G>A | CA368978544 | CFTR | c.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 |
7 | g.117592038G>C | CA368978543 | CFTR | c.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) | |
7 | g.117592038G>T | CA368978540 | CFTR | c.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) | |
7 | g.117592038_117592045del | CA577680762 | CFTR | c.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 |
7 | g.117592039C>A | CA368978549 | CFTR | c.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 |
7 | g.117592039C= | CA1737394057 | CFTR | c.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=) | |
7 | g.117592039C>G | CA368978548 | CFTR | c.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) | |
7 | g.117592039C>T | CA457448861 | CFTR | c.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=) | |
7 | g.117592040T>A | CA4451108 | CFTR | c.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 |
7 | g.117592040T>C | CA368978551 | CFTR | c.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) | |
7 | g.117592040T>G | CA368978553 | CFTR | c.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) | |
7 | g.117592040T= | CA1737394059 | CFTR | c.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=) | |
7 | g.117592041A>C | CA368978555 | CFTR | c.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 |
7 | g.117592041A>G | CA368978557 | CFTR | c.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 |
7 | g.117592041A>T | CA368978559 | CFTR | c.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) | |
7 | g.117592042T>A | CA368978562 | CFTR | c.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) | |
7 | g.117592042T>C | CA457448862 | CFTR | c.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 |
7 | g.117592042T>G | CA368978564 | CFTR | c.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) | |
7 | g.117592044_117592046del | CA2684619354 | CFTR | c.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 |
7 | g.117592043T>A | CA368978570 | CFTR | c.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) | |
7 | g.117592043T>C | CA368978572 | CFTR | c.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) | |
7 | g.117592043T>G | CA368978574 | CFTR | c.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) | |
7 | g.117592044T>A | CA368978582 | CFTR | c.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) | |
7 | g.117592044T>C | CA368978580 | CFTR | c.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) | |
7 | g.117592044T>G | CA368978576 | CFTR | c.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) | |
7 | g.117592045T>A | CA368978584 | CFTR | c.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) | |
7 | g.117592045T>C | CA457448863 | CFTR | c.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=) | |
7 | g.117592045T>G | CA4451109 | CFTR | c.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 |
7 | g.117592045T= | CA1737394062 | CFTR | c.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=) | |
7 | g.117592046T>A | CA368978588 | CFTR | c.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) | |
7 | g.117592046T>C | CA368978592 | CFTR | c.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) | |
7 | g.117592046T>G | CA368978594 | CFTR | c.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) | |
7 | g.117592047A= | CA1737394065 | CFTR | c.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=) | |
7 | g.117592047A>C | CA368978596 | CFTR | c.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) | |
7 | g.117592047A>G | CA368978597 | CFTR | c.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 |
7 | g.117592047A>T | CA368978598 | CFTR | c.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) | |
7 | g.117592048T>A | CA368978602 | CFTR | c.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) | |
7 | g.117592048T>C | CA457448864 | CFTR | c.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 |
7 | g.117592048T>G | CA368978603 | CFTR | c.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) | |
7 | g.117592049G>A | CA326706 | CFTR | c.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 |
7 | g.117592049G>C | CA326707 | CFTR | c.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 |
7 | g.117592049G= | CA1737394069 | CFTR | c.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=) | |
7 | g.117592049G>T | CA368978610 | CFTR | c.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) | |
7 | g.117592051del | CA2831039081 | CFTR | c.1884del (p.Thr629HisfsTer?) c.*1598del (n.*1598del) c.1701del (p.Thr568HisfsTer?) c.*184del (n.*184del) c.*1708del (n.*1708del) c.1458del (p.Thr487HisfsTer?) c.1402-10775del (n.1402-10775del) c.1794del (p.Thr599HisfsTer?) c.1974del (p.Thr659HisfsTer?) c.1641del (p.Thr548HisfsTer?) | |
7 | g.117592050G>A | CA368978612 | CFTR | c.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) | |
7 | g.117592050G>C | CA368978613 | CFTR | c.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 |
7 | g.117592050G= | CA1737394077 | CFTR | c.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=) | |
7 | g.117592050G>T | CA368978611 | CFTR | c.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) | |
7 | g.117592051G>A | CA457448865 | CFTR | c.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 |
7 | g.117592051G>C | CA457448866 | CFTR | c.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=) | |
7 | g.117592051G= | CA1737394087 | CFTR | c.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=) | |
7 | g.117592051G>T | CA457448867 | CFTR | c.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 |
7 | g.117592052A= | CA1737394089 | CFTR | c.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=) | |
7 | g.117592052A>C | CA368978617 | CFTR | c.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) | |
7 | g.117592052A>G | CA368978619 | CFTR | c.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 |
7 | g.117592052A>T | CA368978621 | CFTR | c.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) | |
7 | g.117592053C>A | CA368978622 | CFTR | c.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) | |
7 | g.117592053C= | CA1737394095 | CFTR | c.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=) | |
7 | g.117592053C>G | CA368978624 | CFTR | c.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) | |
7 | g.117592053C>T | CA368978631 | CFTR | c.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 |
7 | g.117592054A= | CA1737394098 | CFTR | c.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=) | |
7 | g.117592054A>C | CA457448870 | CFTR | c.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=) | |
7 | g.117592054A>G | CA457448869 | CFTR | c.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=) | |
7 | g.117592054A>T | CA457448868 | CFTR | c.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=) | |
7 | g.117592055T>A | CA368978645 | CFTR | c.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) | |
7 | g.117592055T>C | CA368978636 | CFTR | c.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 |
7 | g.117592055T>G | CA368978643 | CFTR | c.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) | |
7 | g.117592058dup | CA4451110 | CFTR | c.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 |
7 | g.117592056T>A | CA368978647 | CFTR | c.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) | |
7 | g.117592056T>C | CA368978648 | CFTR | c.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) | |
7 | g.117592056T>G | CA368978651 | CFTR | c.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) | |
7 | g.117592057T>A | CA368978654 | CFTR | c.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) | |
7 | g.117592057T>C | CA457448871 | CFTR | c.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 |
7 | g.117592057T>G | CA368978657 | CFTR | c.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) | |
7 | g.117592058T>A | CA368978661 | CFTR | c.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) | |
7 | g.117592058T>C | CA368978666 | CFTR | c.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 |
7 | g.117592058T>G | CA368978664 | CFTR | c.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) | |
7 | g.117592059C>A | CA368978670 | CFTR | c.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) | |
7 | g.117592059C>G | CA368978674 | CFTR | c.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) | |
7 | g.117592059C>T | CA368978677 | CFTR | c.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) | |
7 | g.117592060_117592064del | CA2580076505 | CFTR | c.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 |
7 | g.117592060A>C | CA457448872 | CFTR | c.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=) | |
7 | g.117592060A>G | CA457448874 | CFTR | c.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=) | |
7 | g.117592060A>T | CA457448873 | CFTR | c.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=) | |
7 | g.117592061G>A | CA368978681 | CFTR | c.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 |
7 | g.117592061G>C | CA368978683 | CFTR | c.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) | |
7 | g.117592061G>T | CA368978686 | CFTR | c.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) | |
7 | g.117592062A>C | CA368978690 | CFTR | c.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) | |
7 | g.117592062A>G | CA368978694 | CFTR | c.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) | |
7 | g.117592062A>T | CA368978697 | CFTR | c.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) | |
7 | g.117592063A>C | CA368978699 | CFTR | c.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) | |
7 | g.117592063A>G | CA457448875 | CFTR | c.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=) | |
7 | g.117592063A>T | CA368978701 | CFTR | c.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) | |
7 | g.117592064C>A | CA326708 | CFTR | c.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 |
7 | g.117592064C= | CA1737394103 | CFTR | c.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=) | |
7 | g.117592064C>G | CA368978706 | CFTR | c.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 |
7 | g.117592064C>T | CA368978704 | CFTR | c.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) | |
7 | g.117592065T>A | CA368978707 | CFTR | c.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) | |
7 | g.117592065T>C | CA326710 | CFTR | c.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 |
7 | g.117592065T>G | CA368978710 | CFTR | c.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) | |
7 | g.117592065T= | CA1737394109 | CFTR | c.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=) | |
7 | g.117592066C>A | CA457448876 | CFTR | c.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=) | |
7 | g.117592066C= | CA1737394115 | CFTR | c.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=) | |
7 | g.117592066C>G | CA457448877 | CFTR | c.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=) | |
7 | g.117592066C>T | CA457448878 | CFTR | c.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 |
7 | g.117592067C>A | CA368978712 | CFTR | c.1900C>A (p.Gln634Lys) c.*1614C>A (n.*1614C>A) c.1717C>A (p.Gln573Lys) c.*200C>A (n.*200C>A) c.*1724C>A (n.*1724C>A) c.1474C>A (p.Gln492Lys) c.1402-10759C>A (n.1402-10759C>A) c.1810C>A (p.Gln604Lys) c.1990C>A (p.Gln664Lys) c.1657C>A (p.Gln553Lys) | |
7 | g.117592067C= | CA1737394120 | CFTR | c.1900C= (p.Gln634=) c.*1614C= (n.*1614C=) c.1717C= (p.Gln573=) c.*200C= (n.*200C=) c.*1724C= (n.*1724C=) c.1474C= (p.Gln492=) c.1402-10759C= (n.1402-10759C=) c.1810C= (p.Gln604=) c.1990C= (p.Gln664=) c.1657C= (p.Gln553=) | |
7 | g.117592067C>G | CA368978714 | CFTR | c.1900C>G (p.Gln634Glu) c.*1614C>G (n.*1614C>G) c.1717C>G (p.Gln573Glu) c.*200C>G (n.*200C>G) c.*1724C>G (n.*1724C>G) c.1474C>G (p.Gln492Glu) c.1402-10759C>G (n.1402-10759C>G) c.1810C>G (p.Gln604Glu) c.1990C>G (p.Gln664Glu) c.1657C>G (p.Gln553Glu) | |
7 | g.117592067C>T | CA326711 | CFTR | c.1900C>T (p.Gln634Ter) c.*1614C>T (n.*1614C>T) c.1717C>T (p.Gln573Ter) c.*200C>T (n.*200C>T) c.*1724C>T (n.*1724C>T) c.1474C>T (p.Gln492Ter) c.1402-10759C>T (n.1402-10759C>T) c.1810C>T (p.Gln604Ter) c.1990C>T (p.Gln664Ter) c.1657C>T (p.Gln553Ter) | dbSNP |
7 | g.117592067_117592068delinsCA | CA1737394121 | CFTR | c.1900_1901delinsCA (p.Gln634=) c.*1614_*1615delinsCA (n.*1614_*1615delinsCA) c.1717_1718delinsCA (p.Gln573=) c.*200_*201delinsCA (n.*200_*201delinsCA) c.*1724_*1725delinsCA (n.*1724_*1725delinsCA) c.1474_1475delinsCA (p.Gln492=) c.1402-10759_1402-10758delinsCA (n.1402-10759_1402-10758delinsCA) c.1810_1811delinsCA (p.Gln604=) c.1990_1991delinsCA (p.Gln664=) c.1657_1658delinsCA (p.Gln553=) |