Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.117591251_117595608delinsCTACATTTGTACTACA2580076490CFTRc.1767-683_2619+550delinsCTACATTTGTACTA
c.*1481-683_*2333+550delinsCTACATTTGTACTA
c.1584-683_2436+550delinsCTACATTTGTACTA
c.*67-683_*919+550delinsCTACATTTGTACTA
c.*1591-683_*2443+550delinsCTACATTTGTACTA
c.1341-683_2193+550delinsCTACATTTGTACTA
c.1402-11575_1402-7218delinsCTACATTTGTACTA (n.1402-11575_1402-7218delinsCTACATTTGTACTA)
c.1677-683_2529+550delinsCTACATTTGTACTA
c.1857-683_2709+550delinsCTACATTTGTACTA
c.1524-683_2376+550delinsCTACATTTGTACTA
ClinVar
7g.117592113C>ACA368978943CFTRc.1946C>A (p.Ser649Tyr)
c.*1660C>A (n.*1660C>A)
c.1763C>A (p.Ser588Tyr)
c.*246C>A (n.*246C>A)
c.*1770C>A (n.*1770C>A)
c.1520C>A (p.Ser507Tyr)
c.1402-10713C>A (n.1402-10713C>A)
c.1856C>A (p.Ser619Tyr)
c.2036C>A (p.Ser679Tyr)
c.1703C>A (p.Ser568Tyr)
7g.117592113C>GCA368978945CFTRc.1946C>G (p.Ser649Cys)
c.*1660C>G (n.*1660C>G)
c.1763C>G (p.Ser588Cys)
c.*246C>G (n.*246C>G)
c.*1770C>G (n.*1770C>G)
c.1520C>G (p.Ser507Cys)
c.1402-10713C>G (n.1402-10713C>G)
c.1856C>G (p.Ser619Cys)
c.2036C>G (p.Ser679Cys)
c.1703C>G (p.Ser568Cys)
7g.117592113C>TCA368978947CFTRc.1946C>T (p.Ser649Phe)
c.*1660C>T (n.*1660C>T)
c.1763C>T (p.Ser588Phe)
c.*246C>T (n.*246C>T)
c.*1770C>T (n.*1770C>T)
c.1520C>T (p.Ser507Phe)
c.1402-10713C>T (n.1402-10713C>T)
c.1856C>T (p.Ser619Phe)
c.2036C>T (p.Ser679Phe)
c.1703C>T (p.Ser568Phe)
7g.117592114T>ACA457448901CFTRc.1947T>A (p.Ser649=)
c.*1661T>A (n.*1661T>A)
c.1764T>A (p.Ser588=)
c.*247T>A (n.*247T>A)
c.*1771T>A (n.*1771T>A)
c.1521T>A (p.Ser507=)
c.1402-10712T>A (n.1402-10712T>A)
c.1857T>A (p.Ser619=)
c.2037T>A (p.Ser679=)
c.1704T>A (p.Ser568=)
7g.117592114T>CCA4451118CFTRc.1947T>C (p.Ser649=)
c.*1661T>C (n.*1661T>C)
c.1764T>C (p.Ser588=)
c.*247T>C (n.*247T>C)
c.*1771T>C (n.*1771T>C)
c.1521T>C (p.Ser507=)
c.1402-10712T>C (n.1402-10712T>C)
c.1857T>C (p.Ser619=)
c.2037T>C (p.Ser679=)
c.1704T>C (p.Ser568=)
dbSNP ExAC gnomAD v2 gnomAD v4
7g.117592114T>GCA457448902CFTRc.1947T>G (p.Ser649=)
c.*1661T>G (n.*1661T>G)
c.1764T>G (p.Ser588=)
c.*247T>G (n.*247T>G)
c.*1771T>G (n.*1771T>G)
c.1521T>G (p.Ser507=)
c.1402-10712T>G (n.1402-10712T>G)
c.1857T>G (p.Ser619=)
c.2037T>G (p.Ser679=)
c.1704T>G (p.Ser568=)
7g.117592114T=CA1737394288CFTRc.1947T= (p.Ser649=)
c.*1661T= (n.*1661T=)
c.1764T= (p.Ser588=)
c.*247T= (n.*247T=)
c.*1771T= (n.*1771T=)
c.1521T= (p.Ser507=)
c.1402-10712T= (n.1402-10712T=)
c.1857T= (p.Ser619=)
c.2037T= (p.Ser679=)
c.1704T= (p.Ser568=)
7g.117592116delCA2580076509CFTRc.1949del (p.Phe650SerfsTer13)
c.*1663del (n.*1663del)
c.1766del (p.Phe589SerfsTer13)
c.*249del (n.*249del)
c.*1773del (n.*1773del)
c.1523del (p.Phe508SerfsTer13)
c.1402-10710del (n.1402-10710del)
c.1859del (p.Phe620SerfsTer13)
c.2039del (p.Phe680SerfsTer13)
c.1706del (p.Phe569SerfsTer13)
ClinVar
7g.117592115T>ACA368978951CFTRc.1948T>A (p.Phe650Ile)
c.*1662T>A (n.*1662T>A)
c.1765T>A (p.Phe589Ile)
c.*248T>A (n.*248T>A)
c.*1772T>A (n.*1772T>A)
c.1522T>A (p.Phe508Ile)
c.1402-10711T>A (n.1402-10711T>A)
c.1858T>A (p.Phe620Ile)
c.2038T>A (p.Phe680Ile)
c.1705T>A (p.Phe569Ile)
7g.117592115T>CCA368978954CFTRc.1948T>C (p.Phe650Leu)
c.*1662T>C (n.*1662T>C)
c.1765T>C (p.Phe589Leu)
c.*248T>C (n.*248T>C)
c.*1772T>C (n.*1772T>C)
c.1522T>C (p.Phe508Leu)
c.1402-10711T>C (n.1402-10711T>C)
c.1858T>C (p.Phe620Leu)
c.2038T>C (p.Phe680Leu)
c.1705T>C (p.Phe569Leu)
7g.117592115T>GCA368978952CFTRc.1948T>G (p.Phe650Val)
c.*1662T>G (n.*1662T>G)
c.1765T>G (p.Phe589Val)
c.*248T>G (n.*248T>G)
c.*1772T>G (n.*1772T>G)
c.1522T>G (p.Phe508Val)
c.1402-10711T>G (n.1402-10711T>G)
c.1858T>G (p.Phe620Val)
c.2038T>G (p.Phe680Val)
c.1705T>G (p.Phe569Val)
7g.117592116T>ACA368978959CFTRc.1949T>A (p.Phe650Tyr)
c.*1663T>A (n.*1663T>A)
c.1766T>A (p.Phe589Tyr)
c.*249T>A (n.*249T>A)
c.*1773T>A (n.*1773T>A)
c.1523T>A (p.Phe508Tyr)
c.1402-10710T>A (n.1402-10710T>A)
c.1859T>A (p.Phe620Tyr)
c.2039T>A (p.Phe680Tyr)
c.1706T>A (p.Phe569Tyr)
7g.117592116T>CCA368978960CFTRc.1949T>C (p.Phe650Ser)
c.*1663T>C (n.*1663T>C)
c.1766T>C (p.Phe589Ser)
c.*249T>C (n.*249T>C)
c.*1773T>C (n.*1773T>C)
c.1523T>C (p.Phe508Ser)
c.1402-10710T>C (n.1402-10710T>C)
c.1859T>C (p.Phe620Ser)
c.2039T>C (p.Phe680Ser)
c.1706T>C (p.Phe569Ser)
dbSNP gnomAD v4
7g.117592116T>GCA368978963CFTRc.1949T>G (p.Phe650Cys)
c.*1663T>G (n.*1663T>G)
c.1766T>G (p.Phe589Cys)
c.*249T>G (n.*249T>G)
c.*1773T>G (n.*1773T>G)
c.1523T>G (p.Phe508Cys)
c.1402-10710T>G (n.1402-10710T>G)
c.1859T>G (p.Phe620Cys)
c.2039T>G (p.Phe680Cys)
c.1706T>G (p.Phe569Cys)
7g.117592116T=CA1737394290CFTRc.1949T= (p.Phe650=)
c.*1663T= (n.*1663T=)
c.1766T= (p.Phe589=)
c.*249T= (n.*249T=)
c.*1773T= (n.*1773T=)
c.1523T= (p.Phe508=)
c.1402-10710T= (n.1402-10710T=)
c.1859T= (p.Phe620=)
c.2039T= (p.Phe680=)
c.1706T= (p.Phe569=)
7g.117592117C>ACA4451120CFTRc.1950C>A (p.Phe650Leu)
c.*1664C>A (n.*1664C>A)
c.1767C>A (p.Phe589Leu)
c.*250C>A (n.*250C>A)
c.*1774C>A (n.*1774C>A)
c.1524C>A (p.Phe508Leu)
c.1402-10709C>A (n.1402-10709C>A)
c.1860C>A (p.Phe620Leu)
c.2040C>A (p.Phe680Leu)
c.1707C>A (p.Phe569Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117592117C=CA1737394298CFTRc.1950C= (p.Phe650=)
c.*1664C= (n.*1664C=)
c.1767C= (p.Phe589=)
c.*250C= (n.*250C=)
c.*1774C= (n.*1774C=)
c.1524C= (p.Phe508=)
c.1402-10709C= (n.1402-10709C=)
c.1860C= (p.Phe620=)
c.2040C= (p.Phe680=)
c.1707C= (p.Phe569=)
7g.117592117C>GCA368978968CFTRc.1950C>G (p.Phe650Leu)
c.*1664C>G (n.*1664C>G)
c.1767C>G (p.Phe589Leu)
c.*250C>G (n.*250C>G)
c.*1774C>G (n.*1774C>G)
c.1524C>G (p.Phe508Leu)
c.1402-10709C>G (n.1402-10709C>G)
c.1860C>G (p.Phe620Leu)
c.2040C>G (p.Phe680Leu)
c.1707C>G (p.Phe569Leu)
7g.117592117C>TCA4451119CFTRc.1950C>T (p.Phe650=)
c.*1664C>T (n.*1664C>T)
c.1767C>T (p.Phe589=)
c.*250C>T (n.*250C>T)
c.*1774C>T (n.*1774C>T)
c.1524C>T (p.Phe508=)
c.1402-10709C>T (n.1402-10709C>T)
c.1860C>T (p.Phe620=)
c.2040C>T (p.Phe680=)
c.1707C>T (p.Phe569=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
7g.117592118G>ACA4451121CFTRc.1951G>A (p.Asp651Asn)
c.*1665G>A (n.*1665G>A)
c.1768G>A (p.Asp590Asn)
c.*251G>A (n.*251G>A)
c.*1775G>A (n.*1775G>A)
c.1525G>A (p.Asp509Asn)
c.1402-10708G>A (n.1402-10708G>A)
c.1861G>A (p.Asp621Asn)
c.2041G>A (p.Asp681Asn)
c.1708G>A (p.Asp570Asn)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.117592118G>CCA368978971CFTRc.1951G>C (p.Asp651His)
c.*1665G>C (n.*1665G>C)
c.1768G>C (p.Asp590His)
c.*251G>C (n.*251G>C)
c.*1775G>C (n.*1775G>C)
c.1525G>C (p.Asp509His)
c.1402-10708G>C (n.1402-10708G>C)
c.1861G>C (p.Asp621His)
c.2041G>C (p.Asp681His)
c.1708G>C (p.Asp570His)
7g.117592118G=CA1737394302CFTRc.1951G= (p.Asp651=)
c.*1665G= (n.*1665G=)
c.1768G= (p.Asp590=)
c.*251G= (n.*251G=)
c.*1775G= (n.*1775G=)
c.1525G= (p.Asp509=)
c.1402-10708G= (n.1402-10708G=)
c.1861G= (p.Asp621=)
c.2041G= (p.Asp681=)
c.1708G= (p.Asp570=)
7g.117592118G>TCA368978972CFTRc.1951G>T (p.Asp651Tyr)
c.*1665G>T (n.*1665G>T)
c.1768G>T (p.Asp590Tyr)
c.*251G>T (n.*251G>T)
c.*1775G>T (n.*1775G>T)
c.1525G>T (p.Asp509Tyr)
c.1402-10708G>T (n.1402-10708G>T)
c.1861G>T (p.Asp621Tyr)
c.2041G>T (p.Asp681Tyr)
c.1708G>T (p.Asp570Tyr)
7g.117592119A>CCA368978975CFTRc.1952A>C (p.Asp651Ala)
c.*1666A>C (n.*1666A>C)
c.1769A>C (p.Asp590Ala)
c.*252A>C (n.*252A>C)
c.*1776A>C (n.*1776A>C)
c.1526A>C (p.Asp509Ala)
c.1402-10707A>C (n.1402-10707A>C)
c.1862A>C (p.Asp621Ala)
c.2042A>C (p.Asp681Ala)
c.1709A>C (p.Asp570Ala)
7g.117592119A>GCA368978977CFTRc.1952A>G (p.Asp651Gly)
c.*1666A>G (n.*1666A>G)
c.1769A>G (p.Asp590Gly)
c.*252A>G (n.*252A>G)
c.*1776A>G (n.*1776A>G)
c.1526A>G (p.Asp509Gly)
c.1402-10707A>G (n.1402-10707A>G)
c.1862A>G (p.Asp621Gly)
c.2042A>G (p.Asp681Gly)
c.1709A>G (p.Asp570Gly)
7g.117592119A>TCA368978978CFTRc.1952A>T (p.Asp651Val)
c.*1666A>T (n.*1666A>T)
c.1769A>T (p.Asp590Val)
c.*252A>T (n.*252A>T)
c.*1776A>T (n.*1776A>T)
c.1526A>T (p.Asp509Val)
c.1402-10707A>T (n.1402-10707A>T)
c.1862A>T (p.Asp621Val)
c.2042A>T (p.Asp681Val)
c.1709A>T (p.Asp570Val)
7g.117592120C>ACA368978981CFTRc.1953C>A (p.Asp651Glu)
c.*1667C>A (n.*1667C>A)
c.1770C>A (p.Asp590Glu)
c.*253C>A (n.*253C>A)
c.*1777C>A (n.*1777C>A)
c.1527C>A (p.Asp509Glu)
c.1402-10706C>A (n.1402-10706C>A)
c.1863C>A (p.Asp621Glu)
c.2043C>A (p.Asp681Glu)
c.1710C>A (p.Asp570Glu)
7g.117592120C>GCA368978983CFTRc.1953C>G (p.Asp651Glu)
c.*1667C>G (n.*1667C>G)
c.1770C>G (p.Asp590Glu)
c.*253C>G (n.*253C>G)
c.*1777C>G (n.*1777C>G)
c.1527C>G (p.Asp509Glu)
c.1402-10706C>G (n.1402-10706C>G)
c.1863C>G (p.Asp621Glu)
c.2043C>G (p.Asp681Glu)
c.1710C>G (p.Asp570Glu)
7g.117592120C>TCA457448903CFTRc.1953C>T (p.Asp651=)
c.*1667C>T (n.*1667C>T)
c.1770C>T (p.Asp590=)
c.*253C>T (n.*253C>T)
c.*1777C>T (n.*1777C>T)
c.1527C>T (p.Asp509=)
c.1402-10706C>T (n.1402-10706C>T)
c.1863C>T (p.Asp621=)
c.2043C>T (p.Asp681=)
c.1710C>T (p.Asp570=)
ClinVar gnomAD v4
7g.117592121C>ACA4451122CFTRc.1954C>A (p.Gln652Lys)
c.*1668C>A (n.*1668C>A)
c.1771C>A (p.Gln591Lys)
c.*254C>A (n.*254C>A)
c.*1778C>A (n.*1778C>A)
c.1528C>A (p.Gln510Lys)
c.1402-10705C>A (n.1402-10705C>A)
c.1864C>A (p.Gln622Lys)
c.2044C>A (p.Gln682Lys)
c.1711C>A (p.Gln571Lys)
dbSNP ExAC gnomAD v2 gnomAD v4
7g.117592121C=CA1737394308CFTRc.1954C= (p.Gln652=)
c.*1668C= (n.*1668C=)
c.1771C= (p.Gln591=)
c.*254C= (n.*254C=)
c.*1778C= (n.*1778C=)
c.1528C= (p.Gln510=)
c.1402-10705C= (n.1402-10705C=)
c.1864C= (p.Gln622=)
c.2044C= (p.Gln682=)
c.1711C= (p.Gln571=)
7g.117592121C>GCA4451123CFTRc.1954C>G (p.Gln652Glu)
c.*1668C>G (n.*1668C>G)
c.1771C>G (p.Gln591Glu)
c.*254C>G (n.*254C>G)
c.*1778C>G (n.*1778C>G)
c.1528C>G (p.Gln510Glu)
c.1402-10705C>G (n.1402-10705C>G)
c.1864C>G (p.Gln622Glu)
c.2044C>G (p.Gln682Glu)
c.1711C>G (p.Gln571Glu)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117592121C>TCA368978987CFTRc.1954C>T (p.Gln652Ter)
c.*1668C>T (n.*1668C>T)
c.1771C>T (p.Gln591Ter)
c.*254C>T (n.*254C>T)
c.*1778C>T (n.*1778C>T)
c.1528C>T (p.Gln510Ter)
c.1402-10705C>T (n.1402-10705C>T)
c.1864C>T (p.Gln622Ter)
c.2044C>T (p.Gln682Ter)
c.1711C>T (p.Gln571Ter)
7g.117592122A>CCA368978988CFTRc.1955A>C (p.Gln652Pro)
c.*1669A>C (n.*1669A>C)
c.1772A>C (p.Gln591Pro)
c.*255A>C (n.*255A>C)
c.*1779A>C (n.*1779A>C)
c.1529A>C (p.Gln510Pro)
c.1402-10704A>C (n.1402-10704A>C)
c.1865A>C (p.Gln622Pro)
c.2045A>C (p.Gln682Pro)
c.1712A>C (p.Gln571Pro)
ClinVar gnomAD v4
7g.117592122A>GCA368978989CFTRc.1955A>G (p.Gln652Arg)
c.*1669A>G (n.*1669A>G)
c.1772A>G (p.Gln591Arg)
c.*255A>G (n.*255A>G)
c.*1779A>G (n.*1779A>G)
c.1529A>G (p.Gln510Arg)
c.1402-10704A>G (n.1402-10704A>G)
c.1865A>G (p.Gln622Arg)
c.2045A>G (p.Gln682Arg)
c.1712A>G (p.Gln571Arg)
7g.117592122A>TCA368978990CFTRc.1955A>T (p.Gln652Leu)
c.*1669A>T (n.*1669A>T)
c.1772A>T (p.Gln591Leu)
c.*255A>T (n.*255A>T)
c.*1779A>T (n.*1779A>T)
c.1529A>T (p.Gln510Leu)
c.1402-10704A>T (n.1402-10704A>T)
c.1865A>T (p.Gln622Leu)
c.2045A>T (p.Gln682Leu)
c.1712A>T (p.Gln571Leu)
7g.117592123A>CCA368978991CFTRc.1956A>C (p.Gln652His)
c.*1670A>C (n.*1670A>C)
c.1773A>C (p.Gln591His)
c.*256A>C (n.*256A>C)
c.*1780A>C (n.*1780A>C)
c.1530A>C (p.Gln510His)
c.1402-10703A>C (n.1402-10703A>C)
c.1866A>C (p.Gln622His)
c.2046A>C (p.Gln682His)
c.1713A>C (p.Gln571His)
7g.117592123A>GCA457448904CFTRc.1956A>G (p.Gln652=)
c.*1670A>G (n.*1670A>G)
c.1773A>G (p.Gln591=)
c.*256A>G (n.*256A>G)
c.*1780A>G (n.*1780A>G)
c.1530A>G (p.Gln510=)
c.1402-10703A>G (n.1402-10703A>G)
c.1866A>G (p.Gln622=)
c.2046A>G (p.Gln682=)
c.1713A>G (p.Gln571=)
7g.117592123A>TCA368978993CFTRc.1956A>T (p.Gln652His)
c.*1670A>T (n.*1670A>T)
c.1773A>T (p.Gln591His)
c.*256A>T (n.*256A>T)
c.*1780A>T (n.*1780A>T)
c.1530A>T (p.Gln510His)
c.1402-10703A>T (n.1402-10703A>T)
c.1866A>T (p.Gln622His)
c.2046A>T (p.Gln682His)
c.1713A>T (p.Gln571His)
7g.117592124T>ACA368978994CFTRc.1957T>A (p.Phe653Ile)
c.*1671T>A (n.*1671T>A)
c.1774T>A (p.Phe592Ile)
c.*257T>A (n.*257T>A)
c.*1781T>A (n.*1781T>A)
c.1531T>A (p.Phe511Ile)
c.1402-10702T>A (n.1402-10702T>A)
c.1867T>A (p.Phe623Ile)
c.2047T>A (p.Phe683Ile)
c.1714T>A (p.Phe572Ile)
7g.117592124T>CCA368978996CFTRc.1957T>C (p.Phe653Leu)
c.*1671T>C (n.*1671T>C)
c.1774T>C (p.Phe592Leu)
c.*257T>C (n.*257T>C)
c.*1781T>C (n.*1781T>C)
c.1531T>C (p.Phe511Leu)
c.1402-10702T>C (n.1402-10702T>C)
c.1867T>C (p.Phe623Leu)
c.2047T>C (p.Phe683Leu)
c.1714T>C (p.Phe572Leu)
7g.117592124T>GCA368978998CFTRc.1957T>G (p.Phe653Val)
c.*1671T>G (n.*1671T>G)
c.1774T>G (p.Phe592Val)
c.*257T>G (n.*257T>G)
c.*1781T>G (n.*1781T>G)
c.1531T>G (p.Phe511Val)
c.1402-10702T>G (n.1402-10702T>G)
c.1867T>G (p.Phe623Val)
c.2047T>G (p.Phe683Val)
c.1714T>G (p.Phe572Val)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.117592124T=CA1737394313CFTRc.1957T= (p.Phe653=)
c.*1671T= (n.*1671T=)
c.1774T= (p.Phe592=)
c.*257T= (n.*257T=)
c.*1781T= (n.*1781T=)
c.1531T= (p.Phe511=)
c.1402-10702T= (n.1402-10702T=)
c.1867T= (p.Phe623=)
c.2047T= (p.Phe683=)
c.1714T= (p.Phe572=)
7g.117592125T>ACA368979002CFTRc.1958T>A (p.Phe653Tyr)
c.*1672T>A (n.*1672T>A)
c.1775T>A (p.Phe592Tyr)
c.*258T>A (n.*258T>A)
c.*1782T>A (n.*1782T>A)
c.1532T>A (p.Phe511Tyr)
c.1402-10701T>A (n.1402-10701T>A)
c.1868T>A (p.Phe623Tyr)
c.2048T>A (p.Phe683Tyr)
c.1715T>A (p.Phe572Tyr)
7g.117592125T>CCA368979004CFTRc.1958T>C (p.Phe653Ser)
c.*1672T>C (n.*1672T>C)
c.1775T>C (p.Phe592Ser)
c.*258T>C (n.*258T>C)
c.*1782T>C (n.*1782T>C)
c.1532T>C (p.Phe511Ser)
c.1402-10701T>C (n.1402-10701T>C)
c.1868T>C (p.Phe623Ser)
c.2048T>C (p.Phe683Ser)
c.1715T>C (p.Phe572Ser)
7g.117592125T>GCA368979005CFTRc.1958T>G (p.Phe653Cys)
c.*1672T>G (n.*1672T>G)
c.1775T>G (p.Phe592Cys)
c.*258T>G (n.*258T>G)
c.*1782T>G (n.*1782T>G)
c.1532T>G (p.Phe511Cys)
c.1402-10701T>G (n.1402-10701T>G)
c.1868T>G (p.Phe623Cys)
c.2048T>G (p.Phe683Cys)
c.1715T>G (p.Phe572Cys)
7g.117592126T>ACA368979006CFTRc.1959T>A (p.Phe653Leu)
c.*1673T>A (n.*1673T>A)
c.1776T>A (p.Phe592Leu)
c.*259T>A (n.*259T>A)
c.*1783T>A (n.*1783T>A)
c.1533T>A (p.Phe511Leu)
c.1402-10700T>A (n.1402-10700T>A)
c.1869T>A (p.Phe623Leu)
c.2049T>A (p.Phe683Leu)
c.1716T>A (p.Phe572Leu)
7g.117592126T>CCA457448905CFTRc.1959T>C (p.Phe653=)
c.*1673T>C (n.*1673T>C)
c.1776T>C (p.Phe592=)
c.*259T>C (n.*259T>C)
c.*1783T>C (n.*1783T>C)
c.1533T>C (p.Phe511=)
c.1402-10700T>C (n.1402-10700T>C)
c.1869T>C (p.Phe623=)
c.2049T>C (p.Phe683=)
c.1716T>C (p.Phe572=)
7g.117592126T>GCA368979007CFTRc.1959T>G (p.Phe653Leu)
c.*1673T>G (n.*1673T>G)
c.1776T>G (p.Phe592Leu)
c.*259T>G (n.*259T>G)
c.*1783T>G (n.*1783T>G)
c.1533T>G (p.Phe511Leu)
c.1402-10700T>G (n.1402-10700T>G)
c.1869T>G (p.Phe623Leu)
c.2049T>G (p.Phe683Leu)
c.1716T>G (p.Phe572Leu)

Number of alleles fetched