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.117592260A>CCA368979661CFTRc.2093A>C (p.Lys698Thr)
c.*1807A>C (n.*1807A>C)
c.1910A>C (p.Lys637Thr)
c.*393A>C (n.*393A>C)
c.*1917A>C (n.*1917A>C)
c.1667A>C (p.Lys556Thr)
c.1402-10566A>C (n.1402-10566A>C)
c.2003A>C (p.Lys668Thr)
c.2183A>C (p.Lys728Thr)
c.1850A>C (p.Lys617Thr)
7g.117592260A>GCA368979663CFTRc.2093A>G (p.Lys698Arg)
c.*1807A>G (n.*1807A>G)
c.1910A>G (p.Lys637Arg)
c.*393A>G (n.*393A>G)
c.*1917A>G (n.*1917A>G)
c.1667A>G (p.Lys556Arg)
c.1402-10566A>G (n.1402-10566A>G)
c.2003A>G (p.Lys668Arg)
c.2183A>G (p.Lys728Arg)
c.1850A>G (p.Lys617Arg)
7g.117592260A>TCA368979666CFTRc.2093A>T (p.Lys698Met)
c.*1807A>T (n.*1807A>T)
c.1910A>T (p.Lys637Met)
c.*393A>T (n.*393A>T)
c.*1917A>T (n.*1917A>T)
c.1667A>T (p.Lys556Met)
c.1402-10566A>T (n.1402-10566A>T)
c.2003A>T (p.Lys668Met)
c.2183A>T (p.Lys728Met)
c.1850A>T (p.Lys617Met)
7g.117592261G>ACA457449044CFTRc.2094G>A (p.Lys698=)
c.*1808G>A (n.*1808G>A)
c.1911G>A (p.Lys637=)
c.*394G>A (n.*394G>A)
c.*1918G>A (n.*1918G>A)
c.1668G>A (p.Lys556=)
c.1402-10565G>A (n.1402-10565G>A)
c.2004G>A (p.Lys668=)
c.2184G>A (p.Lys728=)
c.1851G>A (p.Lys617=)
 ClinVar
7g.117592261G>CCA368979668CFTRc.2094G>C (p.Lys698Asn)
c.*1808G>C (n.*1808G>C)
c.1911G>C (p.Lys637Asn)
c.*394G>C (n.*394G>C)
c.*1918G>C (n.*1918G>C)
c.1668G>C (p.Lys556Asn)
c.1402-10565G>C (n.1402-10565G>C)
c.2004G>C (p.Lys668Asn)
c.2184G>C (p.Lys728Asn)
c.1851G>C (p.Lys617Asn)
7g.117592261G>TCA368979669CFTRc.2094G>T (p.Lys698Asn)
c.*1808G>T (n.*1808G>T)
c.1911G>T (p.Lys637Asn)
c.*394G>T (n.*394G>T)
c.*1918G>T (n.*1918G>T)
c.1668G>T (p.Lys556Asn)
c.1402-10565G>T (n.1402-10565G>T)
c.2004G>T (p.Lys668Asn)
c.2184G>T (p.Lys728Asn)
c.1851G>T (p.Lys617Asn)
 COSMIC
7g.117592262A>CCA368979673CFTRc.2095A>C (p.Asn699His)
c.*1809A>C (n.*1809A>C)
c.1912A>C (p.Asn638His)
c.*395A>C (n.*395A>C)
c.*1919A>C (n.*1919A>C)
c.1669A>C (p.Asn557His)
c.1402-10564A>C (n.1402-10564A>C)
c.2005A>C (p.Asn669His)
c.2185A>C (p.Asn729His)
c.1852A>C (p.Asn618His)
7g.117592262A>GCA368979674CFTRc.2095A>G (p.Asn699Asp)
c.*1809A>G (n.*1809A>G)
c.1912A>G (p.Asn638Asp)
c.*395A>G (n.*395A>G)
c.*1919A>G (n.*1919A>G)
c.1669A>G (p.Asn557Asp)
c.1402-10564A>G (n.1402-10564A>G)
c.2005A>G (p.Asn669Asp)
c.2185A>G (p.Asn729Asp)
c.1852A>G (p.Asn618Asp)
7g.117592262A>TCA368979677CFTRc.2095A>T (p.Asn699Tyr)
c.*1809A>T (n.*1809A>T)
c.1912A>T (p.Asn638Tyr)
c.*395A>T (n.*395A>T)
c.*1919A>T (n.*1919A>T)
c.1669A>T (p.Asn557Tyr)
c.1402-10564A>T (n.1402-10564A>T)
c.2005A>T (p.Asn669Tyr)
c.2185A>T (p.Asn729Tyr)
c.1852A>T (p.Asn618Tyr)
7g.117592263A>CCA368979679CFTRc.2096A>C (p.Asn699Thr)
c.*1810A>C (n.*1810A>C)
c.1913A>C (p.Asn638Thr)
c.*396A>C (n.*396A>C)
c.*1920A>C (n.*1920A>C)
c.1670A>C (p.Asn557Thr)
c.1402-10563A>C (n.1402-10563A>C)
c.2006A>C (p.Asn669Thr)
c.2186A>C (p.Asn729Thr)
c.1853A>C (p.Asn618Thr)
7g.117592263A>GCA368979682CFTRc.2096A>G (p.Asn699Ser)
c.*1810A>G (n.*1810A>G)
c.1913A>G (p.Asn638Ser)
c.*396A>G (n.*396A>G)
c.*1920A>G (n.*1920A>G)
c.1670A>G (p.Asn557Ser)
c.1402-10563A>G (n.1402-10563A>G)
c.2006A>G (p.Asn669Ser)
c.2186A>G (p.Asn729Ser)
c.1853A>G (p.Asn618Ser)
7g.117592263A>TCA368979684CFTRc.2096A>T (p.Asn699Ile)
c.*1810A>T (n.*1810A>T)
c.1913A>T (p.Asn638Ile)
c.*396A>T (n.*396A>T)
c.*1920A>T (n.*1920A>T)
c.1670A>T (p.Asn557Ile)
c.1402-10563A>T (n.1402-10563A>T)
c.2006A>T (p.Asn669Ile)
c.2186A>T (p.Asn729Ile)
c.1853A>T (p.Asn618Ile)
 ClinVar
7g.117592264T>ACA4451139CFTRc.2097T>A (p.Asn699Lys)
c.*1811T>A (n.*1811T>A)
c.1914T>A (p.Asn638Lys)
c.*397T>A (n.*397T>A)
c.*1921T>A (n.*1921T>A)
c.1671T>A (p.Asn557Lys)
c.1402-10562T>A (n.1402-10562T>A)
c.2007T>A (p.Asn669Lys)
c.2187T>A (p.Asn729Lys)
c.1854T>A (p.Asn618Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.117592264T>CCA457449045CFTRc.2097T>C (p.Asn699=)
c.*1811T>C (n.*1811T>C)
c.1914T>C (p.Asn638=)
c.*397T>C (n.*397T>C)
c.*1921T>C (n.*1921T>C)
c.1671T>C (p.Asn557=)
c.1402-10562T>C (n.1402-10562T>C)
c.2007T>C (p.Asn669=)
c.2187T>C (p.Asn729=)
c.1854T>C (p.Asn618=)
7g.117592264T>GCA368979688CFTRc.2097T>G (p.Asn699Lys)
c.*1811T>G (n.*1811T>G)
c.1914T>G (p.Asn638Lys)
c.*397T>G (n.*397T>G)
c.*1921T>G (n.*1921T>G)
c.1671T>G (p.Asn557Lys)
c.1402-10562T>G (n.1402-10562T>G)
c.2007T>G (p.Asn669Lys)
c.2187T>G (p.Asn729Lys)
c.1854T>G (p.Asn618Lys)
7g.117592264T=CA1737394751CFTRc.2097T= (p.Asn699=)
c.*1811T= (n.*1811T=)
c.1914T= (p.Asn638=)
c.*397T= (n.*397T=)
c.*1921T= (n.*1921T=)
c.1671T= (p.Asn557=)
c.1402-10562T= (n.1402-10562T=)
c.2007T= (p.Asn669=)
c.2187T= (p.Asn729=)
c.1854T= (p.Asn618=)
7g.117592265T>ACA368979691CFTRc.2098T>A (p.Ser700Thr)
c.*1812T>A (n.*1812T>A)
c.1915T>A (p.Ser639Thr)
c.*398T>A (n.*398T>A)
c.*1922T>A (n.*1922T>A)
c.1672T>A (p.Ser558Thr)
c.1402-10561T>A (n.1402-10561T>A)
c.2008T>A (p.Ser670Thr)
c.2188T>A (p.Ser730Thr)
c.1855T>A (p.Ser619Thr)
7g.117592265T>CCA368979692CFTRc.2098T>C (p.Ser700Pro)
c.*1812T>C (n.*1812T>C)
c.1915T>C (p.Ser639Pro)
c.*398T>C (n.*398T>C)
c.*1922T>C (n.*1922T>C)
c.1672T>C (p.Ser558Pro)
c.1402-10561T>C (n.1402-10561T>C)
c.2008T>C (p.Ser670Pro)
c.2188T>C (p.Ser730Pro)
c.1855T>C (p.Ser619Pro)
 ClinVar
7g.117592265T>GCA368979695CFTRc.2098T>G (p.Ser700Ala)
c.*1812T>G (n.*1812T>G)
c.1915T>G (p.Ser639Ala)
c.*398T>G (n.*398T>G)
c.*1922T>G (n.*1922T>G)
c.1672T>G (p.Ser558Ala)
c.1402-10561T>G (n.1402-10561T>G)
c.2008T>G (p.Ser670Ala)
c.2188T>G (p.Ser730Ala)
c.1855T>G (p.Ser619Ala)
7g.117592266C>ACA368979700CFTRc.2099C>A (p.Ser700Tyr)
c.*1813C>A (n.*1813C>A)
c.1916C>A (p.Ser639Tyr)
c.*399C>A (n.*399C>A)
c.*1923C>A (n.*1923C>A)
c.1673C>A (p.Ser558Tyr)
c.1402-10560C>A (n.1402-10560C>A)
c.2009C>A (p.Ser670Tyr)
c.2189C>A (p.Ser730Tyr)
c.1856C>A (p.Ser619Tyr)
 ClinVar
7g.117592266C>GCA368979702CFTRc.2099C>G (p.Ser700Cys)
c.*1813C>G (n.*1813C>G)
c.1916C>G (p.Ser639Cys)
c.*399C>G (n.*399C>G)
c.*1923C>G (n.*1923C>G)
c.1673C>G (p.Ser558Cys)
c.1402-10560C>G (n.1402-10560C>G)
c.2009C>G (p.Ser670Cys)
c.2189C>G (p.Ser730Cys)
c.1856C>G (p.Ser619Cys)
7g.117592266C>TCA368979698CFTRc.2099C>T (p.Ser700Phe)
c.*1813C>T (n.*1813C>T)
c.1916C>T (p.Ser639Phe)
c.*399C>T (n.*399C>T)
c.*1923C>T (n.*1923C>T)
c.1673C>T (p.Ser558Phe)
c.1402-10560C>T (n.1402-10560C>T)
c.2009C>T (p.Ser670Phe)
c.2189C>T (p.Ser730Phe)
c.1856C>T (p.Ser619Phe)
7g.117592267T>ACA457449047CFTRc.2100T>A (p.Ser700=)
c.*1814T>A (n.*1814T>A)
c.1917T>A (p.Ser639=)
c.*400T>A (n.*400T>A)
c.*1924T>A (n.*1924T>A)
c.1674T>A (p.Ser558=)
c.1402-10559T>A (n.1402-10559T>A)
c.2010T>A (p.Ser670=)
c.2190T>A (p.Ser730=)
c.1857T>A (p.Ser619=)
 gnomAD v4
7g.117592267T>CCA457449048CFTRc.2100T>C (p.Ser700=)
c.*1814T>C (n.*1814T>C)
c.1917T>C (p.Ser639=)
c.*400T>C (n.*400T>C)
c.*1924T>C (n.*1924T>C)
c.1674T>C (p.Ser558=)
c.1402-10559T>C (n.1402-10559T>C)
c.2010T>C (p.Ser670=)
c.2190T>C (p.Ser730=)
c.1857T>C (p.Ser619=)
7g.117592267T>GCA457449046CFTRc.2100T>G (p.Ser700=)
c.*1814T>G (n.*1814T>G)
c.1917T>G (p.Ser639=)
c.*400T>G (n.*400T>G)
c.*1924T>G (n.*1924T>G)
c.1674T>G (p.Ser558=)
c.1402-10559T>G (n.1402-10559T>G)
c.2010T>G (p.Ser670=)
c.2190T>G (p.Ser730=)
c.1857T>G (p.Ser619=)
7g.117592268A>CCA368979705CFTRc.2101A>C (p.Ile701Leu)
c.*1815A>C (n.*1815A>C)
c.1918A>C (p.Ile640Leu)
c.*401A>C (n.*401A>C)
c.*1925A>C (n.*1925A>C)
c.1675A>C (p.Ile559Leu)
c.1402-10558A>C (n.1402-10558A>C)
c.2011A>C (p.Ile671Leu)
c.2191A>C (p.Ile731Leu)
c.1858A>C (p.Ile620Leu)
7g.117592268A>GCA368979707CFTRc.2101A>G (p.Ile701Val)
c.*1815A>G (n.*1815A>G)
c.1918A>G (p.Ile640Val)
c.*401A>G (n.*401A>G)
c.*1925A>G (n.*1925A>G)
c.1675A>G (p.Ile559Val)
c.1402-10558A>G (n.1402-10558A>G)
c.2011A>G (p.Ile671Val)
c.2191A>G (p.Ile731Val)
c.1858A>G (p.Ile620Val)
7g.117592268A>TCA368979709CFTRc.2101A>T (p.Ile701Phe)
c.*1815A>T (n.*1815A>T)
c.1918A>T (p.Ile640Phe)
c.*401A>T (n.*401A>T)
c.*1925A>T (n.*1925A>T)
c.1675A>T (p.Ile559Phe)
c.1402-10558A>T (n.1402-10558A>T)
c.2011A>T (p.Ile671Phe)
c.2191A>T (p.Ile731Phe)
c.1858A>T (p.Ile620Phe)
7g.117592269T>ACA368979713CFTRc.2102T>A (p.Ile701Asn)
c.*1816T>A (n.*1816T>A)
c.1919T>A (p.Ile640Asn)
c.*402T>A (n.*402T>A)
c.*1926T>A (n.*1926T>A)
c.1676T>A (p.Ile559Asn)
c.1402-10557T>A (n.1402-10557T>A)
c.2012T>A (p.Ile671Asn)
c.2192T>A (p.Ile731Asn)
c.1859T>A (p.Ile620Asn)
7g.117592269T>CCA368979715CFTRc.2102T>C (p.Ile701Thr)
c.*1816T>C (n.*1816T>C)
c.1919T>C (p.Ile640Thr)
c.*402T>C (n.*402T>C)
c.*1926T>C (n.*1926T>C)
c.1676T>C (p.Ile559Thr)
c.1402-10557T>C (n.1402-10557T>C)
c.2012T>C (p.Ile671Thr)
c.2192T>C (p.Ile731Thr)
c.1859T>C (p.Ile620Thr)
 gnomAD v4
7g.117592269T>GCA368979717CFTRc.2102T>G (p.Ile701Ser)
c.*1816T>G (n.*1816T>G)
c.1919T>G (p.Ile640Ser)
c.*402T>G (n.*402T>G)
c.*1926T>G (n.*1926T>G)
c.1676T>G (p.Ile559Ser)
c.1402-10557T>G (n.1402-10557T>G)
c.2012T>G (p.Ile671Ser)
c.2192T>G (p.Ile731Ser)
c.1859T>G (p.Ile620Ser)
7g.117592270T>ACA457449049CFTRc.2103T>A (p.Ile701=)
c.*1817T>A (n.*1817T>A)
c.1920T>A (p.Ile640=)
c.*403T>A (n.*403T>A)
c.*1927T>A (n.*1927T>A)
c.1677T>A (p.Ile559=)
c.1402-10556T>A (n.1402-10556T>A)
c.2013T>A (p.Ile671=)
c.2193T>A (p.Ile731=)
c.1860T>A (p.Ile620=)
7g.117592270T>CCA457449050CFTRc.2103T>C (p.Ile701=)
c.*1817T>C (n.*1817T>C)
c.1920T>C (p.Ile640=)
c.*403T>C (n.*403T>C)
c.*1927T>C (n.*1927T>C)
c.1677T>C (p.Ile559=)
c.1402-10556T>C (n.1402-10556T>C)
c.2013T>C (p.Ile671=)
c.2193T>C (p.Ile731=)
c.1860T>C (p.Ile620=)
7g.117592270T>GCA368979719CFTRc.2103T>G (p.Ile701Met)
c.*1817T>G (n.*1817T>G)
c.1920T>G (p.Ile640Met)
c.*403T>G (n.*403T>G)
c.*1927T>G (n.*1927T>G)
c.1677T>G (p.Ile559Met)
c.1402-10556T>G (n.1402-10556T>G)
c.2013T>G (p.Ile671Met)
c.2193T>G (p.Ile731Met)
c.1860T>G (p.Ile620Met)
7g.117592271C>ACA368979722CFTRc.2104C>A (p.Leu702Ile)
c.*1818C>A (n.*1818C>A)
c.1921C>A (p.Leu641Ile)
c.*404C>A (n.*404C>A)
c.*1928C>A (n.*1928C>A)
c.1678C>A (p.Leu560Ile)
c.1402-10555C>A (n.1402-10555C>A)
c.2014C>A (p.Leu672Ile)
c.2194C>A (p.Leu732Ile)
c.1861C>A (p.Leu621Ile)
7g.117592271C>GCA368979726CFTRc.2104C>G (p.Leu702Val)
c.*1818C>G (n.*1818C>G)
c.1921C>G (p.Leu641Val)
c.*404C>G (n.*404C>G)
c.*1928C>G (n.*1928C>G)
c.1678C>G (p.Leu560Val)
c.1402-10555C>G (n.1402-10555C>G)
c.2014C>G (p.Leu672Val)
c.2194C>G (p.Leu732Val)
c.1861C>G (p.Leu621Val)
 gnomAD v4
7g.117592271C>TCA368979724CFTRc.2104C>T (p.Leu702Phe)
c.*1818C>T (n.*1818C>T)
c.1921C>T (p.Leu641Phe)
c.*404C>T (n.*404C>T)
c.*1928C>T (n.*1928C>T)
c.1678C>T (p.Leu560Phe)
c.1402-10555C>T (n.1402-10555C>T)
c.2014C>T (p.Leu672Phe)
c.2194C>T (p.Leu732Phe)
c.1861C>T (p.Leu621Phe)
7g.117592272T>ACA368979729CFTRc.2105T>A (p.Leu702His)
c.*1819T>A (n.*1819T>A)
c.1922T>A (p.Leu641His)
c.*405T>A (n.*405T>A)
c.*1929T>A (n.*1929T>A)
c.1679T>A (p.Leu560His)
c.1402-10554T>A (n.1402-10554T>A)
c.2015T>A (p.Leu672His)
c.2195T>A (p.Leu732His)
c.1862T>A (p.Leu621His)
7g.117592272T>CCA368979731CFTRc.2105T>C (p.Leu702Pro)
c.*1819T>C (n.*1819T>C)
c.1922T>C (p.Leu641Pro)
c.*405T>C (n.*405T>C)
c.*1929T>C (n.*1929T>C)
c.1679T>C (p.Leu560Pro)
c.1402-10554T>C (n.1402-10554T>C)
c.2015T>C (p.Leu672Pro)
c.2195T>C (p.Leu732Pro)
c.1862T>C (p.Leu621Pro)
7g.117592272T>GCA368979733CFTRc.2105T>G (p.Leu702Arg)
c.*1819T>G (n.*1819T>G)
c.1922T>G (p.Leu641Arg)
c.*405T>G (n.*405T>G)
c.*1929T>G (n.*1929T>G)
c.1679T>G (p.Leu560Arg)
c.1402-10554T>G (n.1402-10554T>G)
c.2015T>G (p.Leu672Arg)
c.2195T>G (p.Leu732Arg)
c.1862T>G (p.Leu621Arg)
7g.117592273C>ACA457449051CFTRc.2106C>A (p.Leu702=)
c.*1820C>A (n.*1820C>A)
c.1923C>A (p.Leu641=)
c.*406C>A (n.*406C>A)
c.*1930C>A (n.*1930C>A)
c.1680C>A (p.Leu560=)
c.1402-10553C>A (n.1402-10553C>A)
c.2016C>A (p.Leu672=)
c.2196C>A (p.Leu732=)
c.1863C>A (p.Leu621=)
7g.117592273C=CA1737394755CFTRc.2106C= (p.Leu702=)
c.*1820C= (n.*1820C=)
c.1923C= (p.Leu641=)
c.*406C= (n.*406C=)
c.*1930C= (n.*1930C=)
c.1680C= (p.Leu560=)
c.1402-10553C= (n.1402-10553C=)
c.2016C= (p.Leu672=)
c.2196C= (p.Leu732=)
c.1863C= (p.Leu621=)
7g.117592273C>GCA164947832CFTRc.2106C>G (p.Leu702=)
c.*1820C>G (n.*1820C>G)
c.1923C>G (p.Leu641=)
c.*406C>G (n.*406C>G)
c.*1930C>G (n.*1930C>G)
c.1680C>G (p.Leu560=)
c.1402-10553C>G (n.1402-10553C>G)
c.2016C>G (p.Leu672=)
c.2196C>G (p.Leu732=)
c.1863C>G (p.Leu621=)
 ClinVar dbSNP gnomAD v4
7g.117592273C>TCA457449052CFTRc.2106C>T (p.Leu702=)
c.*1820C>T (n.*1820C>T)
c.1923C>T (p.Leu641=)
c.*406C>T (n.*406C>T)
c.*1930C>T (n.*1930C>T)
c.1680C>T (p.Leu560=)
c.1402-10553C>T (n.1402-10553C>T)
c.2016C>T (p.Leu672=)
c.2196C>T (p.Leu732=)
c.1863C>T (p.Leu621=)
 ClinVar dbSNP
7g.117592274A>CCA368979737CFTRc.2107A>C (p.Asn703His)
c.*1821A>C (n.*1821A>C)
c.1924A>C (p.Asn642His)
c.*407A>C (n.*407A>C)
c.*1931A>C (n.*1931A>C)
c.1681A>C (p.Asn561His)
c.1402-10552A>C (n.1402-10552A>C)
c.2017A>C (p.Asn673His)
c.2197A>C (p.Asn733His)
c.1864A>C (p.Asn622His)
7g.117592274A>GCA368979741CFTRc.2107A>G (p.Asn703Asp)
c.*1821A>G (n.*1821A>G)
c.1924A>G (p.Asn642Asp)
c.*407A>G (n.*407A>G)
c.*1931A>G (n.*1931A>G)
c.1681A>G (p.Asn561Asp)
c.1402-10552A>G (n.1402-10552A>G)
c.2017A>G (p.Asn673Asp)
c.2197A>G (p.Asn733Asp)
c.1864A>G (p.Asn622Asp)
 ClinVar
7g.117592274A>TCA368979739CFTRc.2107A>T (p.Asn703Tyr)
c.*1821A>T (n.*1821A>T)
c.1924A>T (p.Asn642Tyr)
c.*407A>T (n.*407A>T)
c.*1931A>T (n.*1931A>T)
c.1681A>T (p.Asn561Tyr)
c.1402-10552A>T (n.1402-10552A>T)
c.2017A>T (p.Asn673Tyr)
c.2197A>T (p.Asn733Tyr)
c.1864A>T (p.Asn622Tyr)
7g.117592275A=CA1737394757CFTRc.2108A= (p.Asn703=)
c.*1822A= (n.*1822A=)
c.1925A= (p.Asn642=)
c.*408A= (n.*408A=)
c.*1932A= (n.*1932A=)
c.1682A= (p.Asn561=)
c.1402-10551A= (n.1402-10551A=)
c.2018A= (p.Asn673=)
c.2198A= (p.Asn733=)
c.1865A= (p.Asn622=)
7g.117592275A>CCA368979744CFTRc.2108A>C (p.Asn703Thr)
c.*1822A>C (n.*1822A>C)
c.1925A>C (p.Asn642Thr)
c.*408A>C (n.*408A>C)
c.*1932A>C (n.*1932A>C)
c.1682A>C (p.Asn561Thr)
c.1402-10551A>C (n.1402-10551A>C)
c.2018A>C (p.Asn673Thr)
c.2198A>C (p.Asn733Thr)
c.1865A>C (p.Asn622Thr)
 ClinVar
7g.117592275A>GCA368979746CFTRc.2108A>G (p.Asn703Ser)
c.*1822A>G (n.*1822A>G)
c.1925A>G (p.Asn642Ser)
c.*408A>G (n.*408A>G)
c.*1932A>G (n.*1932A>G)
c.1682A>G (p.Asn561Ser)
c.1402-10551A>G (n.1402-10551A>G)
c.2018A>G (p.Asn673Ser)
c.2198A>G (p.Asn733Ser)
c.1865A>G (p.Asn622Ser)
7g.117592275A>TCA4451140CFTRc.2108A>T (p.Asn703Ile)
c.*1822A>T (n.*1822A>T)
c.1925A>T (p.Asn642Ile)
c.*408A>T (n.*408A>T)
c.*1932A>T (n.*1932A>T)
c.1682A>T (p.Asn561Ile)
c.1402-10551A>T (n.1402-10551A>T)
c.2018A>T (p.Asn673Ile)
c.2198A>T (p.Asn733Ile)
c.1865A>T (p.Asn622Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.117592276T>ACA368979751CFTRc.2109T>A (p.Asn703Lys)
c.*1823T>A (n.*1823T>A)
c.1926T>A (p.Asn642Lys)
c.*409T>A (n.*409T>A)
c.*1933T>A (n.*1933T>A)
c.1683T>A (p.Asn561Lys)
c.1402-10550T>A (n.1402-10550T>A)
c.2019T>A (p.Asn673Lys)
c.2199T>A (p.Asn733Lys)
c.1866T>A (p.Asn622Lys)
7g.117592276T>CCA4451141CFTRc.2109T>C (p.Asn703=)
c.*1823T>C (n.*1823T>C)
c.1926T>C (p.Asn642=)
c.*409T>C (n.*409T>C)
c.*1933T>C (n.*1933T>C)
c.1683T>C (p.Asn561=)
c.1402-10550T>C (n.1402-10550T>C)
c.2019T>C (p.Asn673=)
c.2199T>C (p.Asn733=)
c.1866T>C (p.Asn622=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.117592276T>GCA368979757CFTRc.2109T>G (p.Asn703Lys)
c.*1823T>G (n.*1823T>G)
c.1926T>G (p.Asn642Lys)
c.*409T>G (n.*409T>G)
c.*1933T>G (n.*1933T>G)
c.1683T>G (p.Asn561Lys)
c.1402-10550T>G (n.1402-10550T>G)
c.2019T>G (p.Asn673Lys)
c.2199T>G (p.Asn733Lys)
c.1866T>G (p.Asn622Lys)
7g.117592276T=CA1737394761CFTRc.2109T= (p.Asn703=)
c.*1823T= (n.*1823T=)
c.1926T= (p.Asn642=)
c.*409T= (n.*409T=)
c.*1933T= (n.*1933T=)
c.1683T= (p.Asn561=)
c.1402-10550T= (n.1402-10550T=)
c.2019T= (p.Asn673=)
c.2199T= (p.Asn733=)
c.1866T= (p.Asn622=)
7g.117592277C>ACA368979760CFTRc.2110C>A (p.Pro704Thr)
c.*1824C>A (n.*1824C>A)
c.1927C>A (p.Pro643Thr)
c.*410C>A (n.*410C>A)
c.*1934C>A (n.*1934C>A)
c.1684C>A (p.Pro562Thr)
c.1402-10549C>A (n.1402-10549C>A)
c.2020C>A (p.Pro674Thr)
c.2200C>A (p.Pro734Thr)
c.1867C>A (p.Pro623Thr)
 dbSNP gnomAD v4
7g.117592277C=CA1737394766CFTRc.2110C= (p.Pro704=)
c.*1824C= (n.*1824C=)
c.1927C= (p.Pro643=)
c.*410C= (n.*410C=)
c.*1934C= (n.*1934C=)
c.1684C= (p.Pro562=)
c.1402-10549C= (n.1402-10549C=)
c.2020C= (p.Pro674=)
c.2200C= (p.Pro734=)
c.1867C= (p.Pro623=)
7g.117592277C>GCA368979769CFTRc.2110C>G (p.Pro704Ala)
c.*1824C>G (n.*1824C>G)
c.1927C>G (p.Pro643Ala)
c.*410C>G (n.*410C>G)
c.*1934C>G (n.*1934C>G)
c.1684C>G (p.Pro562Ala)
c.1402-10549C>G (n.1402-10549C>G)
c.2020C>G (p.Pro674Ala)
c.2200C>G (p.Pro734Ala)
c.1867C>G (p.Pro623Ala)
7g.117592277C>TCA368979774CFTRc.2110C>T (p.Pro704Ser)
c.*1824C>T (n.*1824C>T)
c.1927C>T (p.Pro643Ser)
c.*410C>T (n.*410C>T)
c.*1934C>T (n.*1934C>T)
c.1684C>T (p.Pro562Ser)
c.1402-10549C>T (n.1402-10549C>T)
c.2020C>T (p.Pro674Ser)
c.2200C>T (p.Pro734Ser)
c.1867C>T (p.Pro623Ser)
7g.117592278C>ACA368979782CFTRc.2111C>A (p.Pro704Gln)
c.*1825C>A (n.*1825C>A)
c.1928C>A (p.Pro643Gln)
c.*411C>A (n.*411C>A)
c.*1935C>A (n.*1935C>A)
c.1685C>A (p.Pro562Gln)
c.1402-10548C>A (n.1402-10548C>A)
c.2021C>A (p.Pro674Gln)
c.2201C>A (p.Pro734Gln)
c.1868C>A (p.Pro623Gln)
7g.117592278C=CA1737394772CFTRc.2111C= (p.Pro704=)
c.*1825C= (n.*1825C=)
c.1928C= (p.Pro643=)
c.*411C= (n.*411C=)
c.*1935C= (n.*1935C=)
c.1685C= (p.Pro562=)
c.1402-10548C= (n.1402-10548C=)
c.2021C= (p.Pro674=)
c.2201C= (p.Pro734=)
c.1868C= (p.Pro623=)
7g.117592278C>GCA368979792CFTRc.2111C>G (p.Pro704Arg)
c.*1825C>G (n.*1825C>G)
c.1928C>G (p.Pro643Arg)
c.*411C>G (n.*411C>G)
c.*1935C>G (n.*1935C>G)
c.1685C>G (p.Pro562Arg)
c.1402-10548C>G (n.1402-10548C>G)
c.2021C>G (p.Pro674Arg)
c.2201C>G (p.Pro734Arg)
c.1868C>G (p.Pro623Arg)
 dbSNP gnomAD v2 gnomAD v4
7g.117592278C>TCA4451142CFTRc.2111C>T (p.Pro704Leu)
c.*1825C>T (n.*1825C>T)
c.1928C>T (p.Pro643Leu)
c.*411C>T (n.*411C>T)
c.*1935C>T (n.*1935C>T)
c.1685C>T (p.Pro562Leu)
c.1402-10548C>T (n.1402-10548C>T)
c.2021C>T (p.Pro674Leu)
c.2201C>T (p.Pro734Leu)
c.1868C>T (p.Pro623Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117592279A=CA1737394777CFTRc.2112A= (p.Pro704=)
c.*1826A= (n.*1826A=)
c.1929A= (p.Pro643=)
c.*412A= (n.*412A=)
c.*1936A= (n.*1936A=)
c.1686A= (p.Pro562=)
c.1402-10547A= (n.1402-10547A=)
c.2022A= (p.Pro674=)
c.2202A= (p.Pro734=)
c.1869A= (p.Pro623=)
7g.117592279A>CCA457449053CFTRc.2112A>C (p.Pro704=)
c.*1826A>C (n.*1826A>C)
c.1929A>C (p.Pro643=)
c.*412A>C (n.*412A>C)
c.*1936A>C (n.*1936A>C)
c.1686A>C (p.Pro562=)
c.1402-10547A>C (n.1402-10547A>C)
c.2022A>C (p.Pro674=)
c.2202A>C (p.Pro734=)
c.1869A>C (p.Pro623=)
7g.117592279A>GCA164947848CFTRc.2112A>G (p.Pro704=)
c.*1826A>G (n.*1826A>G)
c.1929A>G (p.Pro643=)
c.*412A>G (n.*412A>G)
c.*1936A>G (n.*1936A>G)
c.1686A>G (p.Pro562=)
c.1402-10547A>G (n.1402-10547A>G)
c.2022A>G (p.Pro674=)
c.2202A>G (p.Pro734=)
c.1869A>G (p.Pro623=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
7g.117592279A>TCA457449054CFTRc.2112A>T (p.Pro704=)
c.*1826A>T (n.*1826A>T)
c.1929A>T (p.Pro643=)
c.*412A>T (n.*412A>T)
c.*1936A>T (n.*1936A>T)
c.1686A>T (p.Pro562=)
c.1402-10547A>T (n.1402-10547A>T)
c.2022A>T (p.Pro674=)
c.2202A>T (p.Pro734=)
c.1869A>T (p.Pro623=)
7g.117592280A=CA1737394779CFTRc.2113A= (p.Ile705=)
c.*1827A= (n.*1827A=)
c.1930A= (p.Ile644=)
c.*413A= (n.*413A=)
c.*1937A= (n.*1937A=)
c.1687A= (p.Ile563=)
c.1402-10546A= (n.1402-10546A=)
c.2023A= (p.Ile675=)
c.2203A= (p.Ile735=)
c.1870A= (p.Ile624=)
7g.117592280A>CCA368979794CFTRc.2113A>C (p.Ile705Leu)
c.*1827A>C (n.*1827A>C)
c.1930A>C (p.Ile644Leu)
c.*413A>C (n.*413A>C)
c.*1937A>C (n.*1937A>C)
c.1687A>C (p.Ile563Leu)
c.1402-10546A>C (n.1402-10546A>C)
c.2023A>C (p.Ile675Leu)
c.2203A>C (p.Ile735Leu)
c.1870A>C (p.Ile624Leu)
7g.117592280A>GCA4451143CFTRc.2113A>G (p.Ile705Val)
c.*1827A>G (n.*1827A>G)
c.1930A>G (p.Ile644Val)
c.*413A>G (n.*413A>G)
c.*1937A>G (n.*1937A>G)
c.1687A>G (p.Ile563Val)
c.1402-10546A>G (n.1402-10546A>G)
c.2023A>G (p.Ile675Val)
c.2203A>G (p.Ile735Val)
c.1870A>G (p.Ile624Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.117592280A>TCA368979795CFTRc.2113A>T (p.Ile705Phe)
c.*1827A>T (n.*1827A>T)
c.1930A>T (p.Ile644Phe)
c.*413A>T (n.*413A>T)
c.*1937A>T (n.*1937A>T)
c.1687A>T (p.Ile563Phe)
c.1402-10546A>T (n.1402-10546A>T)
c.2023A>T (p.Ile675Phe)
c.2203A>T (p.Ile735Phe)
c.1870A>T (p.Ile624Phe)
7g.117592281T>ACA368979797CFTRc.2114T>A (p.Ile705Asn)
c.*1828T>A (n.*1828T>A)
c.1931T>A (p.Ile644Asn)
c.*414T>A (n.*414T>A)
c.*1938T>A (n.*1938T>A)
c.1688T>A (p.Ile563Asn)
c.1402-10545T>A (n.1402-10545T>A)
c.2024T>A (p.Ile675Asn)
c.2204T>A (p.Ile735Asn)
c.1871T>A (p.Ile624Asn)
7g.117592281T>CCA368979802CFTRc.2114T>C (p.Ile705Thr)
c.*1828T>C (n.*1828T>C)
c.1931T>C (p.Ile644Thr)
c.*414T>C (n.*414T>C)
c.*1938T>C (n.*1938T>C)
c.1688T>C (p.Ile563Thr)
c.1402-10545T>C (n.1402-10545T>C)
c.2024T>C (p.Ile675Thr)
c.2204T>C (p.Ile735Thr)
c.1871T>C (p.Ile624Thr)
7g.117592281T>GCA368979800CFTRc.2114T>G (p.Ile705Ser)
c.*1828T>G (n.*1828T>G)
c.1931T>G (p.Ile644Ser)
c.*414T>G (n.*414T>G)
c.*1938T>G (n.*1938T>G)
c.1688T>G (p.Ile563Ser)
c.1402-10545T>G (n.1402-10545T>G)
c.2024T>G (p.Ile675Ser)
c.2204T>G (p.Ile735Ser)
c.1871T>G (p.Ile624Ser)
7g.117592282C>ACA457449056CFTRc.2115C>A (p.Ile705=)
c.*1829C>A (n.*1829C>A)
c.1932C>A (p.Ile644=)
c.*415C>A (n.*415C>A)
c.*1939C>A (n.*1939C>A)
c.1689C>A (p.Ile563=)
c.1402-10544C>A (n.1402-10544C>A)
c.2025C>A (p.Ile675=)
c.2205C>A (p.Ile735=)
c.1872C>A (p.Ile624=)
 ClinVar dbSNP gnomAD v4
7g.117592282C=CA1737394784CFTRc.2115C= (p.Ile705=)
c.*1829C= (n.*1829C=)
c.1932C= (p.Ile644=)
c.*415C= (n.*415C=)
c.*1939C= (n.*1939C=)
c.1689C= (p.Ile563=)
c.1402-10544C= (n.1402-10544C=)
c.2025C= (p.Ile675=)
c.2205C= (p.Ile735=)
c.1872C= (p.Ile624=)
7g.117592282C>GCA368979805CFTRc.2115C>G (p.Ile705Met)
c.*1829C>G (n.*1829C>G)
c.1932C>G (p.Ile644Met)
c.*415C>G (n.*415C>G)
c.*1939C>G (n.*1939C>G)
c.1689C>G (p.Ile563Met)
c.1402-10544C>G (n.1402-10544C>G)
c.2025C>G (p.Ile675Met)
c.2205C>G (p.Ile735Met)
c.1872C>G (p.Ile624Met)
7g.117592282C>TCA457449055CFTRc.2115C>T (p.Ile705=)
c.*1829C>T (n.*1829C>T)
c.1932C>T (p.Ile644=)
c.*415C>T (n.*415C>T)
c.*1939C>T (n.*1939C>T)
c.1689C>T (p.Ile563=)
c.1402-10544C>T (n.1402-10544C>T)
c.2025C>T (p.Ile675=)
c.2205C>T (p.Ile735=)
c.1872C>T (p.Ile624=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.117592283A>CCA368979813CFTRc.2116A>C (p.Asn706His)
c.*1830A>C (n.*1830A>C)
c.1933A>C (p.Asn645His)
c.*416A>C (n.*416A>C)
c.*1940A>C (n.*1940A>C)
c.1690A>C (p.Asn564His)
c.1402-10543A>C (n.1402-10543A>C)
c.2026A>C (p.Asn676His)
c.2206A>C (p.Asn736His)
c.1873A>C (p.Asn625His)
7g.117592283A>GCA368979809CFTRc.2116A>G (p.Asn706Asp)
c.*1830A>G (n.*1830A>G)
c.1933A>G (p.Asn645Asp)
c.*416A>G (n.*416A>G)
c.*1940A>G (n.*1940A>G)
c.1690A>G (p.Asn564Asp)
c.1402-10543A>G (n.1402-10543A>G)
c.2026A>G (p.Asn676Asp)
c.2206A>G (p.Asn736Asp)
c.1873A>G (p.Asn625Asp)
7g.117592283A>TCA368979812CFTRc.2116A>T (p.Asn706Tyr)
c.*1830A>T (n.*1830A>T)
c.1933A>T (p.Asn645Tyr)
c.*416A>T (n.*416A>T)
c.*1940A>T (n.*1940A>T)
c.1690A>T (p.Asn564Tyr)
c.1402-10543A>T (n.1402-10543A>T)
c.2026A>T (p.Asn676Tyr)
c.2206A>T (p.Asn736Tyr)
c.1873A>T (p.Asn625Tyr)
7g.117592284A=CA1737394786CFTRc.2117A= (p.Asn706=)
c.*1831A= (n.*1831A=)
c.1934A= (p.Asn645=)
c.*417A= (n.*417A=)
c.*1941A= (n.*1941A=)
c.1691A= (p.Asn564=)
c.1402-10542A= (n.1402-10542A=)
c.2027A= (p.Asn676=)
c.2207A= (p.Asn736=)
c.1874A= (p.Asn625=)
7g.117592284A>CCA368979816CFTRc.2117A>C (p.Asn706Thr)
c.*1831A>C (n.*1831A>C)
c.1934A>C (p.Asn645Thr)
c.*417A>C (n.*417A>C)
c.*1941A>C (n.*1941A>C)
c.1691A>C (p.Asn564Thr)
c.1402-10542A>C (n.1402-10542A>C)
c.2027A>C (p.Asn676Thr)
c.2207A>C (p.Asn736Thr)
c.1874A>C (p.Asn625Thr)
7g.117592284A>GCA368979817CFTRc.2117A>G (p.Asn706Ser)
c.*1831A>G (n.*1831A>G)
c.1934A>G (p.Asn645Ser)
c.*417A>G (n.*417A>G)
c.*1941A>G (n.*1941A>G)
c.1691A>G (p.Asn564Ser)
c.1402-10542A>G (n.1402-10542A>G)
c.2027A>G (p.Asn676Ser)
c.2207A>G (p.Asn736Ser)
c.1874A>G (p.Asn625Ser)
7g.117592284A>TCA164947853CFTRc.2117A>T (p.Asn706Ile)
c.*1831A>T (n.*1831A>T)
c.1934A>T (p.Asn645Ile)
c.*417A>T (n.*417A>T)
c.*1941A>T (n.*1941A>T)
c.1691A>T (p.Asn564Ile)
c.1402-10542A>T (n.1402-10542A>T)
c.2027A>T (p.Asn676Ile)
c.2207A>T (p.Asn736Ile)
c.1874A>T (p.Asn625Ile)
 dbSNP
7g.117592285C>ACA368979824CFTRc.2118C>A (p.Asn706Lys)
c.*1832C>A (n.*1832C>A)
c.1935C>A (p.Asn645Lys)
c.*418C>A (n.*418C>A)
c.*1942C>A (n.*1942C>A)
c.1692C>A (p.Asn564Lys)
c.1402-10541C>A (n.1402-10541C>A)
c.2028C>A (p.Asn676Lys)
c.2208C>A (p.Asn736Lys)
c.1875C>A (p.Asn625Lys)
7g.117592285C=CA1737394790CFTRc.2118C= (p.Asn706=)
c.*1832C= (n.*1832C=)
c.1935C= (p.Asn645=)
c.*418C= (n.*418C=)
c.*1942C= (n.*1942C=)
c.1692C= (p.Asn564=)
c.1402-10541C= (n.1402-10541C=)
c.2028C= (p.Asn676=)
c.2208C= (p.Asn736=)
c.1875C= (p.Asn625=)
7g.117592285C>GCA368979825CFTRc.2118C>G (p.Asn706Lys)
c.*1832C>G (n.*1832C>G)
c.1935C>G (p.Asn645Lys)
c.*418C>G (n.*418C>G)
c.*1942C>G (n.*1942C>G)
c.1692C>G (p.Asn564Lys)
c.1402-10541C>G (n.1402-10541C>G)
c.2028C>G (p.Asn676Lys)
c.2208C>G (p.Asn736Lys)
c.1875C>G (p.Asn625Lys)
7g.117592285C>TCA457449057CFTRc.2118C>T (p.Asn706=)
c.*1832C>T (n.*1832C>T)
c.1935C>T (p.Asn645=)
c.*418C>T (n.*418C>T)
c.*1942C>T (n.*1942C>T)
c.1692C>T (p.Asn564=)
c.1402-10541C>T (n.1402-10541C>T)
c.2028C>T (p.Asn676=)
c.2208C>T (p.Asn736=)
c.1875C>T (p.Asn625=)
 dbSNP gnomAD v3 gnomAD v4
7g.117592286T>ACA368979827CFTRc.2119T>A (p.Ser707Thr)
c.*1833T>A (n.*1833T>A)
c.1936T>A (p.Ser646Thr)
c.*419T>A (n.*419T>A)
c.*1943T>A (n.*1943T>A)
c.1693T>A (p.Ser565Thr)
c.1402-10540T>A (n.1402-10540T>A)
c.2029T>A (p.Ser677Thr)
c.2209T>A (p.Ser737Thr)
c.1876T>A (p.Ser626Thr)
7g.117592286T>CCA368979829CFTRc.2119T>C (p.Ser707Pro)
c.*1833T>C (n.*1833T>C)
c.1936T>C (p.Ser646Pro)
c.*419T>C (n.*419T>C)
c.*1943T>C (n.*1943T>C)
c.1693T>C (p.Ser565Pro)
c.1402-10540T>C (n.1402-10540T>C)
c.2029T>C (p.Ser677Pro)
c.2209T>C (p.Ser737Pro)
c.1876T>C (p.Ser626Pro)
7g.117592286T>GCA368979832CFTRc.2119T>G (p.Ser707Ala)
c.*1833T>G (n.*1833T>G)
c.1936T>G (p.Ser646Ala)
c.*419T>G (n.*419T>G)
c.*1943T>G (n.*1943T>G)
c.1693T>G (p.Ser565Ala)
c.1402-10540T>G (n.1402-10540T>G)
c.2029T>G (p.Ser677Ala)
c.2209T>G (p.Ser737Ala)
c.1876T>G (p.Ser626Ala)
7g.117592287C>ACA368979836CFTRc.2120C>A (p.Ser707Tyr)
c.*1834C>A (n.*1834C>A)
c.1937C>A (p.Ser646Tyr)
c.*420C>A (n.*420C>A)
c.*1944C>A (n.*1944C>A)
c.1694C>A (p.Ser565Tyr)
c.1402-10539C>A (n.1402-10539C>A)
c.2030C>A (p.Ser677Tyr)
c.2210C>A (p.Ser737Tyr)
c.1877C>A (p.Ser626Tyr)
7g.117592287C=CA1737394796CFTRc.2120C= (p.Ser707=)
c.*1834C= (n.*1834C=)
c.1937C= (p.Ser646=)
c.*420C= (n.*420C=)
c.*1944C= (n.*1944C=)
c.1694C= (p.Ser565=)
c.1402-10539C= (n.1402-10539C=)
c.2030C= (p.Ser677=)
c.2210C= (p.Ser737=)
c.1877C= (p.Ser626=)
7g.117592287C>GCA368979840CFTRc.2120C>G (p.Ser707Cys)
c.*1834C>G (n.*1834C>G)
c.1937C>G (p.Ser646Cys)
c.*420C>G (n.*420C>G)
c.*1944C>G (n.*1944C>G)
c.1694C>G (p.Ser565Cys)
c.1402-10539C>G (n.1402-10539C>G)
c.2030C>G (p.Ser677Cys)
c.2210C>G (p.Ser737Cys)
c.1877C>G (p.Ser626Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.117592287C>TCA368979843CFTRc.2120C>T (p.Ser707Phe)
c.*1834C>T (n.*1834C>T)
c.1937C>T (p.Ser646Phe)
c.*420C>T (n.*420C>T)
c.*1944C>T (n.*1944C>T)
c.1694C>T (p.Ser565Phe)
c.1402-10539C>T (n.1402-10539C>T)
c.2030C>T (p.Ser677Phe)
c.2210C>T (p.Ser737Phe)
c.1877C>T (p.Ser626Phe)
7g.117592288T>ACA457449058CFTRc.2121T>A (p.Ser707=)
c.*1835T>A (n.*1835T>A)
c.1938T>A (p.Ser646=)
c.*421T>A (n.*421T>A)
c.*1945T>A (n.*1945T>A)
c.1695T>A (p.Ser565=)
c.1402-10538T>A (n.1402-10538T>A)
c.2031T>A (p.Ser677=)
c.2211T>A (p.Ser737=)
c.1878T>A (p.Ser626=)
 ClinVar dbSNP
7g.117592288T>CCA457449059CFTRc.2121T>C (p.Ser707=)
c.*1835T>C (n.*1835T>C)
c.1938T>C (p.Ser646=)
c.*421T>C (n.*421T>C)
c.*1945T>C (n.*1945T>C)
c.1695T>C (p.Ser565=)
c.1402-10538T>C (n.1402-10538T>C)
c.2031T>C (p.Ser677=)
c.2211T>C (p.Ser737=)
c.1878T>C (p.Ser626=)
7g.117592288T>GCA457449060CFTRc.2121T>G (p.Ser707=)
c.*1835T>G (n.*1835T>G)
c.1938T>G (p.Ser646=)
c.*421T>G (n.*421T>G)
c.*1945T>G (n.*1945T>G)
c.1695T>G (p.Ser565=)
c.1402-10538T>G (n.1402-10538T>G)
c.2031T>G (p.Ser677=)
c.2211T>G (p.Ser737=)
c.1878T>G (p.Ser626=)
7g.117592289A>CCA368979844CFTRc.2122A>C (p.Ile708Leu)
c.*1836A>C (n.*1836A>C)
c.1939A>C (p.Ile647Leu)
c.*422A>C (n.*422A>C)
c.*1946A>C (n.*1946A>C)
c.1696A>C (p.Ile566Leu)
c.1402-10537A>C (n.1402-10537A>C)
c.2032A>C (p.Ile678Leu)
c.2212A>C (p.Ile738Leu)
c.1879A>C (p.Ile627Leu)
7g.117592289A>GCA368979847CFTRc.2122A>G (p.Ile708Val)
c.*1836A>G (n.*1836A>G)
c.1939A>G (p.Ile647Val)
c.*422A>G (n.*422A>G)
c.*1946A>G (n.*1946A>G)
c.1696A>G (p.Ile566Val)
c.1402-10537A>G (n.1402-10537A>G)
c.2032A>G (p.Ile678Val)
c.2212A>G (p.Ile738Val)
c.1879A>G (p.Ile627Val)
 COSMIC
7g.117592289A>TCA368979845CFTRc.2122A>T (p.Ile708Leu)
c.*1836A>T (n.*1836A>T)
c.1939A>T (p.Ile647Leu)
c.*422A>T (n.*422A>T)
c.*1946A>T (n.*1946A>T)
c.1696A>T (p.Ile566Leu)
c.1402-10537A>T (n.1402-10537A>T)
c.2032A>T (p.Ile678Leu)
c.2212A>T (p.Ile738Leu)
c.1879A>T (p.Ile627Leu)
7g.117592290T>ACA368979850CFTRc.2123T>A (p.Ile708Lys)
c.*1837T>A (n.*1837T>A)
c.1940T>A (p.Ile647Lys)
c.*423T>A (n.*423T>A)
c.*1947T>A (n.*1947T>A)
c.1697T>A (p.Ile566Lys)
c.1402-10536T>A (n.1402-10536T>A)
c.2033T>A (p.Ile678Lys)
c.2213T>A (p.Ile738Lys)
c.1880T>A (p.Ile627Lys)
7g.117592290T>CCA4451144CFTRc.2123T>C (p.Ile708Thr)
c.*1837T>C (n.*1837T>C)
c.1940T>C (p.Ile647Thr)
c.*423T>C (n.*423T>C)
c.*1947T>C (n.*1947T>C)
c.1697T>C (p.Ile566Thr)
c.1402-10536T>C (n.1402-10536T>C)
c.2033T>C (p.Ile678Thr)
c.2213T>C (p.Ile738Thr)
c.1880T>C (p.Ile627Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117592290T>GCA368979859CFTRc.2123T>G (p.Ile708Arg)
c.*1837T>G (n.*1837T>G)
c.1940T>G (p.Ile647Arg)
c.*423T>G (n.*423T>G)
c.*1947T>G (n.*1947T>G)
c.1697T>G (p.Ile566Arg)
c.1402-10536T>G (n.1402-10536T>G)
c.2033T>G (p.Ile678Arg)
c.2213T>G (p.Ile738Arg)
c.1880T>G (p.Ile627Arg)
7g.117592290T=CA1737394807CFTRc.2123T= (p.Ile708=)
c.*1837T= (n.*1837T=)
c.1940T= (p.Ile647=)
c.*423T= (n.*423T=)
c.*1947T= (n.*1947T=)
c.1697T= (p.Ile566=)
c.1402-10536T= (n.1402-10536T=)
c.2033T= (p.Ile678=)
c.2213T= (p.Ile738=)
c.1880T= (p.Ile627=)
7g.117592291A>CCA457449061CFTRc.2124A>C (p.Ile708=)
c.*1838A>C (n.*1838A>C)
c.1941A>C (p.Ile647=)
c.*424A>C (n.*424A>C)
c.*1948A>C (n.*1948A>C)
c.1698A>C (p.Ile566=)
c.1402-10535A>C (n.1402-10535A>C)
c.2034A>C (p.Ile678=)
c.2214A>C (p.Ile738=)
c.1881A>C (p.Ile627=)
 gnomAD v4
7g.117592291A>GCA368979862CFTRc.2124A>G (p.Ile708Met)
c.*1838A>G (n.*1838A>G)
c.1941A>G (p.Ile647Met)
c.*424A>G (n.*424A>G)
c.*1948A>G (n.*1948A>G)
c.1698A>G (p.Ile566Met)
c.1402-10535A>G (n.1402-10535A>G)
c.2034A>G (p.Ile678Met)
c.2214A>G (p.Ile738Met)
c.1881A>G (p.Ile627Met)
7g.117592291A>TCA457449062CFTRc.2124A>T (p.Ile708=)
c.*1838A>T (n.*1838A>T)
c.1941A>T (p.Ile647=)
c.*424A>T (n.*424A>T)
c.*1948A>T (n.*1948A>T)
c.1698A>T (p.Ile566=)
c.1402-10535A>T (n.1402-10535A>T)
c.2034A>T (p.Ile678=)
c.2214A>T (p.Ile738=)
c.1881A>T (p.Ile627=)
 ClinVar
7g.117592292C>ACA457449063CFTRc.2125C>A (p.Arg709=)
c.*1839C>A (n.*1839C>A)
c.1942C>A (p.Arg648=)
c.*425C>A (n.*425C>A)
c.*1949C>A (n.*1949C>A)
c.1699C>A (p.Arg567=)
c.1402-10534C>A (n.1402-10534C>A)
c.2035C>A (p.Arg679=)
c.2215C>A (p.Arg739=)
c.1882C>A (p.Arg628=)
7g.117592292C=CA1737394818CFTRc.2125C= (p.Arg709=)
c.*1839C= (n.*1839C=)
c.1942C= (p.Arg648=)
c.*425C= (n.*425C=)
c.*1949C= (n.*1949C=)
c.1699C= (p.Arg567=)
c.1402-10534C= (n.1402-10534C=)
c.2035C= (p.Arg679=)
c.2215C= (p.Arg739=)
c.1882C= (p.Arg628=)
7g.117592292C>GCA368979863CFTRc.2125C>G (p.Arg709Gly)
c.*1839C>G (n.*1839C>G)
c.1942C>G (p.Arg648Gly)
c.*425C>G (n.*425C>G)
c.*1949C>G (n.*1949C>G)
c.1699C>G (p.Arg567Gly)
c.1402-10534C>G (n.1402-10534C>G)
c.2035C>G (p.Arg679Gly)
c.2215C>G (p.Arg739Gly)
c.1882C>G (p.Arg628Gly)
 ClinVar dbSNP gnomAD v4
7g.117592292C>TCA328093CFTRc.2125C>T (p.Arg709Ter)
c.*1839C>T (n.*1839C>T)
c.1942C>T (p.Arg648Ter)
c.*425C>T (n.*425C>T)
c.*1949C>T (n.*1949C>T)
c.1699C>T (p.Arg567Ter)
c.1402-10534C>T (n.1402-10534C>T)
c.2035C>T (p.Arg679Ter)
c.2215C>T (p.Arg739Ter)
c.1882C>T (p.Arg628Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
7g.117592292_117592293delinsCGCA1737394816CFTRc.2125_2126delinsCG (p.Arg709=)
c.*1839_*1840delinsCG (n.*1839_*1840delinsCG)
c.1942_1943delinsCG (p.Arg648=)
c.*425_*426delinsCG (n.*425_*426delinsCG)
c.*1949_*1950delinsCG (n.*1949_*1950delinsCG)
c.1699_1700delinsCG (p.Arg567=)
c.1402-10534_1402-10533delinsCG (n.1402-10534_1402-10533delinsCG)
c.2035_2036delinsCG (p.Arg679=)
c.2215_2216delinsCG (p.Arg739=)
c.1882_1883delinsCG (p.Arg628=)
7g.117592293delCA164947854CFTRc.2126del (p.Arg709GlnfsTer13)
c.*1840del (n.*1840del)
c.1943del (p.Arg648GlnfsTer13)
c.*426del (n.*426del)
c.*1950del (n.*1950del)
c.1700del (p.Arg567GlnfsTer13)
c.1402-10533del (n.1402-10533del)
c.2036del (p.Arg679GlnfsTer13)
c.2216del (p.Arg739GlnfsTer13)
c.1883del (p.Arg628GlnfsTer13)
 dbSNP
7g.117592293G>ACA326749CFTRc.2126G>A (p.Arg709Gln)
c.*1840G>A (n.*1840G>A)
c.1943G>A (p.Arg648Gln)
c.*426G>A (n.*426G>A)
c.*1950G>A (n.*1950G>A)
c.1700G>A (p.Arg567Gln)
c.1402-10533G>A (n.1402-10533G>A)
c.2036G>A (p.Arg679Gln)
c.2216G>A (p.Arg739Gln)
c.1883G>A (p.Arg628Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
7g.117592293G>CCA368979868CFTRc.2126G>C (p.Arg709Pro)
c.*1840G>C (n.*1840G>C)
c.1943G>C (p.Arg648Pro)
c.*426G>C (n.*426G>C)
c.*1950G>C (n.*1950G>C)
c.1700G>C (p.Arg567Pro)
c.1402-10533G>C (n.1402-10533G>C)
c.2036G>C (p.Arg679Pro)
c.2216G>C (p.Arg739Pro)
c.1883G>C (p.Arg628Pro)
7g.117592293G=CA1737394826CFTRc.2126G= (p.Arg709=)
c.*1840G= (n.*1840G=)
c.1943G= (p.Arg648=)
c.*426G= (n.*426G=)
c.*1950G= (n.*1950G=)
c.1700G= (p.Arg567=)
c.1402-10533G= (n.1402-10533G=)
c.2036G= (p.Arg679=)
c.2216G= (p.Arg739=)
c.1883G= (p.Arg628=)
7g.117592293G>TCA368979871CFTRc.2126G>T (p.Arg709Leu)
c.*1840G>T (n.*1840G>T)
c.1943G>T (p.Arg648Leu)
c.*426G>T (n.*426G>T)
c.*1950G>T (n.*1950G>T)
c.1700G>T (p.Arg567Leu)
c.1402-10533G>T (n.1402-10533G>T)
c.2036G>T (p.Arg679Leu)
c.2216G>T (p.Arg739Leu)
c.1883G>T (p.Arg628Leu)
7g.117592294A>CCA457449064CFTRc.2127A>C (p.Arg709=)
c.*1841A>C (n.*1841A>C)
c.1944A>C (p.Arg648=)
c.*427A>C (n.*427A>C)
c.*1951A>C (n.*1951A>C)
c.1701A>C (p.Arg567=)
c.1402-10532A>C (n.1402-10532A>C)
c.2037A>C (p.Arg679=)
c.2217A>C (p.Arg739=)
c.1884A>C (p.Arg628=)
7g.117592294A>GCA457449065CFTRc.2127A>G (p.Arg709=)
c.*1841A>G (n.*1841A>G)
c.1944A>G (p.Arg648=)
c.*427A>G (n.*427A>G)
c.*1951A>G (n.*1951A>G)
c.1701A>G (p.Arg567=)
c.1402-10532A>G (n.1402-10532A>G)
c.2037A>G (p.Arg679=)
c.2217A>G (p.Arg739=)
c.1884A>G (p.Arg628=)
 ClinVar dbSNP
7g.117592294A>TCA457449066CFTRc.2127A>T (p.Arg709=)
c.*1841A>T (n.*1841A>T)
c.1944A>T (p.Arg648=)
c.*427A>T (n.*427A>T)
c.*1951A>T (n.*1951A>T)
c.1701A>T (p.Arg567=)
c.1402-10532A>T (n.1402-10532A>T)
c.2037A>T (p.Arg679=)
c.2217A>T (p.Arg739=)
c.1884A>T (p.Arg628=)
7g.117592295A=CA1737394835CFTRc.2128A= (p.Lys710=)
c.*1842A= (n.*1842A=)
c.1945A= (p.Lys649=)
c.*428A= (n.*428A=)
c.*1952A= (n.*1952A=)
c.1702A= (p.Lys568=)
c.1402-10531A= (n.1402-10531A=)
c.2038A= (p.Lys680=)
c.2218A= (p.Lys740=)
c.1885A= (p.Lys629=)
7g.117592295A>CCA368979887CFTRc.2128A>C (p.Lys710Gln)
c.*1842A>C (n.*1842A>C)
c.1945A>C (p.Lys649Gln)
c.*428A>C (n.*428A>C)
c.*1952A>C (n.*1952A>C)
c.1702A>C (p.Lys568Gln)
c.1402-10531A>C (n.1402-10531A>C)
c.2038A>C (p.Lys680Gln)
c.2218A>C (p.Lys740Gln)
c.1885A>C (p.Lys629Gln)
7g.117592295A>GCA368979884CFTRc.2128A>G (p.Lys710Glu)
c.*1842A>G (n.*1842A>G)
c.1945A>G (p.Lys649Glu)
c.*428A>G (n.*428A>G)
c.*1952A>G (n.*1952A>G)
c.1702A>G (p.Lys568Glu)
c.1402-10531A>G (n.1402-10531A>G)
c.2038A>G (p.Lys680Glu)
c.2218A>G (p.Lys740Glu)
c.1885A>G (p.Lys629Glu)
7g.117592295A>TCA325588CFTRc.2128A>T (p.Lys710Ter)
c.*1842A>T (n.*1842A>T)
c.1945A>T (p.Lys649Ter)
c.*428A>T (n.*428A>T)
c.*1952A>T (n.*1952A>T)
c.1702A>T (p.Lys568Ter)
c.1402-10531A>T (n.1402-10531A>T)
c.2038A>T (p.Lys680Ter)
c.2218A>T (p.Lys740Ter)
c.1885A>T (p.Lys629Ter)
 ClinVar dbSNP gnomAD v4
7g.117592296A>CCA368979891CFTRc.2129A>C (p.Lys710Thr)
c.*1843A>C (n.*1843A>C)
c.1946A>C (p.Lys649Thr)
c.*429A>C (n.*429A>C)
c.*1953A>C (n.*1953A>C)
c.1703A>C (p.Lys568Thr)
c.1402-10530A>C (n.1402-10530A>C)
c.2039A>C (p.Lys680Thr)
c.2219A>C (p.Lys740Thr)
c.1886A>C (p.Lys629Thr)
7g.117592296A>GCA368979893CFTRc.2129A>G (p.Lys710Arg)
c.*1843A>G (n.*1843A>G)
c.1946A>G (p.Lys649Arg)
c.*429A>G (n.*429A>G)
c.*1953A>G (n.*1953A>G)
c.1703A>G (p.Lys568Arg)
c.1402-10530A>G (n.1402-10530A>G)
c.2039A>G (p.Lys680Arg)
c.2219A>G (p.Lys740Arg)
c.1886A>G (p.Lys629Arg)
 ClinVar dbSNP
7g.117592296A>TCA368979895CFTRc.2129A>T (p.Lys710Ile)
c.*1843A>T (n.*1843A>T)
c.1946A>T (p.Lys649Ile)
c.*429A>T (n.*429A>T)
c.*1953A>T (n.*1953A>T)
c.1703A>T (p.Lys568Ile)
c.1402-10530A>T (n.1402-10530A>T)
c.2039A>T (p.Lys680Ile)
c.2219A>T (p.Lys740Ile)
c.1886A>T (p.Lys629Ile)
7g.117592297A=CA1737394840CFTRc.2130A= (p.Lys710=)
c.*1844A= (n.*1844A=)
c.1947A= (p.Lys649=)
c.*430A= (n.*430A=)
c.*1954A= (n.*1954A=)
c.1704A= (p.Lys568=)
c.1402-10529A= (n.1402-10529A=)
c.2040A= (p.Lys680=)
c.2220A= (p.Lys740=)
c.1887A= (p.Lys629=)
7g.117592297A>CCA368979899CFTRc.2130A>C (p.Lys710Asn)
c.*1844A>C (n.*1844A>C)
c.1947A>C (p.Lys649Asn)
c.*430A>C (n.*430A>C)
c.*1954A>C (n.*1954A>C)
c.1704A>C (p.Lys568Asn)
c.1402-10529A>C (n.1402-10529A>C)
c.2040A>C (p.Lys680Asn)
c.2220A>C (p.Lys740Asn)
c.1887A>C (p.Lys629Asn)
 ClinVar dbSNP gnomAD v3 gnomAD v4
7g.117592297A>GCA457449067CFTRc.2130A>G (p.Lys710=)
c.*1844A>G (n.*1844A>G)
c.1947A>G (p.Lys649=)
c.*430A>G (n.*430A>G)
c.*1954A>G (n.*1954A>G)
c.1704A>G (p.Lys568=)
c.1402-10529A>G (n.1402-10529A>G)
c.2040A>G (p.Lys680=)
c.2220A>G (p.Lys740=)
c.1887A>G (p.Lys629=)
 ClinVar
7g.117592297A>TCA368979901CFTRc.2130A>T (p.Lys710Asn)
c.*1844A>T (n.*1844A>T)
c.1947A>T (p.Lys649Asn)
c.*430A>T (n.*430A>T)
c.*1954A>T (n.*1954A>T)
c.1704A>T (p.Lys568Asn)
c.1402-10529A>T (n.1402-10529A>T)
c.2040A>T (p.Lys680Asn)
c.2220A>T (p.Lys740Asn)
c.1887A>T (p.Lys629Asn)
7g.117592298T>ACA368979910CFTRc.2131T>A (p.Phe711Ile)
c.*1845T>A (n.*1845T>A)
c.1948T>A (p.Phe650Ile)
c.*431T>A (n.*431T>A)
c.*1955T>A (n.*1955T>A)
c.1705T>A (p.Phe569Ile)
c.1402-10528T>A (n.1402-10528T>A)
c.2041T>A (p.Phe681Ile)
c.2221T>A (p.Phe741Ile)
c.1888T>A (p.Phe630Ile)
7g.117592298T>CCA368979911CFTRc.2131T>C (p.Phe711Leu)
c.*1845T>C (n.*1845T>C)
c.1948T>C (p.Phe650Leu)
c.*431T>C (n.*431T>C)
c.*1955T>C (n.*1955T>C)
c.1705T>C (p.Phe569Leu)
c.1402-10528T>C (n.1402-10528T>C)
c.2041T>C (p.Phe681Leu)
c.2221T>C (p.Phe741Leu)
c.1888T>C (p.Phe630Leu)
 ClinVar dbSNP
7g.117592298T>GCA368979912CFTRc.2131T>G (p.Phe711Val)
c.*1845T>G (n.*1845T>G)
c.1948T>G (p.Phe650Val)
c.*431T>G (n.*431T>G)
c.*1955T>G (n.*1955T>G)
c.1705T>G (p.Phe569Val)
c.1402-10528T>G (n.1402-10528T>G)
c.2041T>G (p.Phe681Val)
c.2221T>G (p.Phe741Val)
c.1888T>G (p.Phe630Val)
 dbSNP gnomAD v4
7g.117592298T=CA1737394845CFTRc.2131T= (p.Phe711=)
c.*1845T= (n.*1845T=)
c.1948T= (p.Phe650=)
c.*431T= (n.*431T=)
c.*1955T= (n.*1955T=)
c.1705T= (p.Phe569=)
c.1402-10528T= (n.1402-10528T=)
c.2041T= (p.Phe681=)
c.2221T= (p.Phe741=)
c.1888T= (p.Phe630=)
7g.117592299T>ACA368979915CFTRc.2132T>A (p.Phe711Tyr)
c.*1846T>A (n.*1846T>A)
c.1949T>A (p.Phe650Tyr)
c.*432T>A (n.*432T>A)
c.*1956T>A (n.*1956T>A)
c.1706T>A (p.Phe569Tyr)
c.1402-10527T>A (n.1402-10527T>A)
c.2042T>A (p.Phe681Tyr)
c.2222T>A (p.Phe741Tyr)
c.1889T>A (p.Phe630Tyr)
7g.117592299T>CCA368979917CFTRc.2132T>C (p.Phe711Ser)
c.*1846T>C (n.*1846T>C)
c.1949T>C (p.Phe650Ser)
c.*432T>C (n.*432T>C)
c.*1956T>C (n.*1956T>C)
c.1706T>C (p.Phe569Ser)
c.1402-10527T>C (n.1402-10527T>C)
c.2042T>C (p.Phe681Ser)
c.2222T>C (p.Phe741Ser)
c.1889T>C (p.Phe630Ser)
7g.117592299T>GCA368979920CFTRc.2132T>G (p.Phe711Cys)
c.*1846T>G (n.*1846T>G)
c.1949T>G (p.Phe650Cys)
c.*432T>G (n.*432T>G)
c.*1956T>G (n.*1956T>G)
c.1706T>G (p.Phe569Cys)
c.1402-10527T>G (n.1402-10527T>G)
c.2042T>G (p.Phe681Cys)
c.2222T>G (p.Phe741Cys)
c.1889T>G (p.Phe630Cys)
7g.117592300T>ACA368979923CFTRc.2133T>A (p.Phe711Leu)
c.*1847T>A (n.*1847T>A)
c.1950T>A (p.Phe650Leu)
c.*433T>A (n.*433T>A)
c.*1957T>A (n.*1957T>A)
c.1707T>A (p.Phe569Leu)
c.1402-10526T>A (n.1402-10526T>A)
c.2043T>A (p.Phe681Leu)
c.2223T>A (p.Phe741Leu)
c.1890T>A (p.Phe630Leu)
7g.117592300T>CCA457449068CFTRc.2133T>C (p.Phe711=)
c.*1847T>C (n.*1847T>C)
c.1950T>C (p.Phe650=)
c.*433T>C (n.*433T>C)
c.*1957T>C (n.*1957T>C)
c.1707T>C (p.Phe569=)
c.1402-10526T>C (n.1402-10526T>C)
c.2043T>C (p.Phe681=)
c.2223T>C (p.Phe741=)
c.1890T>C (p.Phe630=)
7g.117592300T>GCA368979925CFTRc.2133T>G (p.Phe711Leu)
c.*1847T>G (n.*1847T>G)
c.1950T>G (p.Phe650Leu)
c.*433T>G (n.*433T>G)
c.*1957T>G (n.*1957T>G)
c.1707T>G (p.Phe569Leu)
c.1402-10526T>G (n.1402-10526T>G)
c.2043T>G (p.Phe681Leu)
c.2223T>G (p.Phe741Leu)
c.1890T>G (p.Phe630Leu)
7g.117592301T>ACA368979941CFTRc.2134T>A (p.Ser712Thr)
c.*1848T>A (n.*1848T>A)
c.1951T>A (p.Ser651Thr)
c.*434T>A (n.*434T>A)
c.*1958T>A (n.*1958T>A)
c.1708T>A (p.Ser570Thr)
c.1402-10525T>A (n.1402-10525T>A)
c.2044T>A (p.Ser682Thr)
c.2224T>A (p.Ser742Thr)
c.1891T>A (p.Ser631Thr)
7g.117592301T>CCA368979936CFTRc.2134T>C (p.Ser712Pro)
c.*1848T>C (n.*1848T>C)
c.1951T>C (p.Ser651Pro)
c.*434T>C (n.*434T>C)
c.*1958T>C (n.*1958T>C)
c.1708T>C (p.Ser570Pro)
c.1402-10525T>C (n.1402-10525T>C)
c.2044T>C (p.Ser682Pro)
c.2224T>C (p.Ser742Pro)
c.1891T>C (p.Ser631Pro)
7g.117592301T>GCA368979939CFTRc.2134T>G (p.Ser712Ala)
c.*1848T>G (n.*1848T>G)
c.1951T>G (p.Ser651Ala)
c.*434T>G (n.*434T>G)
c.*1958T>G (n.*1958T>G)
c.1708T>G (p.Ser570Ala)
c.1402-10525T>G (n.1402-10525T>G)
c.2044T>G (p.Ser682Ala)
c.2224T>G (p.Ser742Ala)
c.1891T>G (p.Ser631Ala)
7g.117592302C>ACA368979944CFTRc.2135C>A (p.Ser712Tyr)
c.*1849C>A (n.*1849C>A)
c.1952C>A (p.Ser651Tyr)
c.*435C>A (n.*435C>A)
c.*1959C>A (n.*1959C>A)
c.1709C>A (p.Ser570Tyr)
c.1402-10524C>A (n.1402-10524C>A)
c.2045C>A (p.Ser682Tyr)
c.2225C>A (p.Ser742Tyr)
c.1892C>A (p.Ser631Tyr)
7g.117592302C>GCA368979946CFTRc.2135C>G (p.Ser712Cys)
c.*1849C>G (n.*1849C>G)
c.1952C>G (p.Ser651Cys)
c.*435C>G (n.*435C>G)
c.*1959C>G (n.*1959C>G)
c.1709C>G (p.Ser570Cys)
c.1402-10524C>G (n.1402-10524C>G)
c.2045C>G (p.Ser682Cys)
c.2225C>G (p.Ser742Cys)
c.1892C>G (p.Ser631Cys)
7g.117592302C>TCA368979950CFTRc.2135C>T (p.Ser712Phe)
c.*1849C>T (n.*1849C>T)
c.1952C>T (p.Ser651Phe)
c.*435C>T (n.*435C>T)
c.*1959C>T (n.*1959C>T)
c.1709C>T (p.Ser570Phe)
c.1402-10524C>T (n.1402-10524C>T)
c.2045C>T (p.Ser682Phe)
c.2225C>T (p.Ser742Phe)
c.1892C>T (p.Ser631Phe)
7g.117592303C>ACA457449069CFTRc.2136C>A (p.Ser712=)
c.*1850C>A (n.*1850C>A)
c.1953C>A (p.Ser651=)
c.*436C>A (n.*436C>A)
c.*1960C>A (n.*1960C>A)
c.1710C>A (p.Ser570=)
c.1402-10523C>A (n.1402-10523C>A)
c.2046C>A (p.Ser682=)
c.2226C>A (p.Ser742=)
c.1893C>A (p.Ser631=)
7g.117592303C>GCA457449070CFTRc.2136C>G (p.Ser712=)
c.*1850C>G (n.*1850C>G)
c.1953C>G (p.Ser651=)
c.*436C>G (n.*436C>G)
c.*1960C>G (n.*1960C>G)
c.1710C>G (p.Ser570=)
c.1402-10523C>G (n.1402-10523C>G)
c.2046C>G (p.Ser682=)
c.2226C>G (p.Ser742=)
c.1893C>G (p.Ser631=)
7g.117592303C>TCA457449071CFTRc.2136C>T (p.Ser712=)
c.*1850C>T (n.*1850C>T)
c.1953C>T (p.Ser651=)
c.*436C>T (n.*436C>T)
c.*1960C>T (n.*1960C>T)
c.1710C>T (p.Ser570=)
c.1402-10523C>T (n.1402-10523C>T)
c.2046C>T (p.Ser682=)
c.2226C>T (p.Ser742=)
c.1893C>T (p.Ser631=)
 ClinVar
7g.117592304A=CA1737394848CFTRc.2137A= (p.Ile713=)
c.*1851A= (n.*1851A=)
c.1954A= (p.Ile652=)
c.*437A= (n.*437A=)
c.*1961A= (n.*1961A=)
c.1711A= (p.Ile571=)
c.1402-10522A= (n.1402-10522A=)
c.2047A= (p.Ile683=)
c.2227A= (p.Ile743=)
c.1894A= (p.Ile632=)
7g.117592304A>CCA368979956CFTRc.2137A>C (p.Ile713Leu)
c.*1851A>C (n.*1851A>C)
c.1954A>C (p.Ile652Leu)
c.*437A>C (n.*437A>C)
c.*1961A>C (n.*1961A>C)
c.1711A>C (p.Ile571Leu)
c.1402-10522A>C (n.1402-10522A>C)
c.2047A>C (p.Ile683Leu)
c.2227A>C (p.Ile743Leu)
c.1894A>C (p.Ile632Leu)
7g.117592304A>GCA368979959CFTRc.2137A>G (p.Ile713Val)
c.*1851A>G (n.*1851A>G)
c.1954A>G (p.Ile652Val)
c.*437A>G (n.*437A>G)
c.*1961A>G (n.*1961A>G)
c.1711A>G (p.Ile571Val)
c.1402-10522A>G (n.1402-10522A>G)
c.2047A>G (p.Ile683Val)
c.2227A>G (p.Ile743Val)
c.1894A>G (p.Ile632Val)
 ClinVar dbSNP gnomAD v3 gnomAD v4
7g.117592304A>TCA368979962CFTRc.2137A>T (p.Ile713Phe)
c.*1851A>T (n.*1851A>T)
c.1954A>T (p.Ile652Phe)
c.*437A>T (n.*437A>T)
c.*1961A>T (n.*1961A>T)
c.1711A>T (p.Ile571Phe)
c.1402-10522A>T (n.1402-10522A>T)
c.2047A>T (p.Ile683Phe)
c.2227A>T (p.Ile743Phe)
c.1894A>T (p.Ile632Phe)
7g.117592305T>ACA368979964CFTRc.2138T>A (p.Ile713Asn)
c.*1852T>A (n.*1852T>A)
c.1955T>A (p.Ile652Asn)
c.*438T>A (n.*438T>A)
c.*1962T>A (n.*1962T>A)
c.1712T>A (p.Ile571Asn)
c.1402-10521T>A (n.1402-10521T>A)
c.2048T>A (p.Ile683Asn)
c.2228T>A (p.Ile743Asn)
c.1895T>A (p.Ile632Asn)
7g.117592305T>CCA368979965CFTRc.2138T>C (p.Ile713Thr)
c.*1852T>C (n.*1852T>C)
c.1955T>C (p.Ile652Thr)
c.*438T>C (n.*438T>C)
c.*1962T>C (n.*1962T>C)
c.1712T>C (p.Ile571Thr)
c.1402-10521T>C (n.1402-10521T>C)
c.2048T>C (p.Ile683Thr)
c.2228T>C (p.Ile743Thr)
c.1895T>C (p.Ile632Thr)
7g.117592305T>GCA368979966CFTRc.2138T>G (p.Ile713Ser)
c.*1852T>G (n.*1852T>G)
c.1955T>G (p.Ile652Ser)
c.*438T>G (n.*438T>G)
c.*1962T>G (n.*1962T>G)
c.1712T>G (p.Ile571Ser)
c.1402-10521T>G (n.1402-10521T>G)
c.2048T>G (p.Ile683Ser)
c.2228T>G (p.Ile743Ser)
c.1895T>G (p.Ile632Ser)
7g.117592306T>ACA4451145CFTRc.2139T>A (p.Ile713=)
c.*1853T>A (n.*1853T>A)
c.1956T>A (p.Ile652=)
c.*439T>A (n.*439T>A)
c.*1963T>A (n.*1963T>A)
c.1713T>A (p.Ile571=)
c.1402-10520T>A (n.1402-10520T>A)
c.2049T>A (p.Ile683=)
c.2229T>A (p.Ile743=)
c.1896T>A (p.Ile632=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117592306T>CCA457449376CFTRc.2139T>C (p.Ile713=)
c.*1853T>C (n.*1853T>C)
c.1956T>C (p.Ile652=)
c.*439T>C (n.*439T>C)
c.*1963T>C (n.*1963T>C)
c.1713T>C (p.Ile571=)
c.1402-10520T>C (n.1402-10520T>C)
c.2049T>C (p.Ile683=)
c.2229T>C (p.Ile743=)
c.1896T>C (p.Ile632=)
 ClinVar dbSNP
7g.117592306T>GCA368979973CFTRc.2139T>G (p.Ile713Met)
c.*1853T>G (n.*1853T>G)
c.1956T>G (p.Ile652Met)
c.*439T>G (n.*439T>G)
c.*1963T>G (n.*1963T>G)
c.1713T>G (p.Ile571Met)
c.1402-10520T>G (n.1402-10520T>G)
c.2049T>G (p.Ile683Met)
c.2229T>G (p.Ile743Met)
c.1896T>G (p.Ile632Met)
7g.117592306T=CA1737394856CFTRc.2139T= (p.Ile713=)
c.*1853T= (n.*1853T=)
c.1956T= (p.Ile652=)
c.*439T= (n.*439T=)
c.*1963T= (n.*1963T=)
c.1713T= (p.Ile571=)
c.1402-10520T= (n.1402-10520T=)
c.2049T= (p.Ile683=)
c.2229T= (p.Ile743=)
c.1896T= (p.Ile632=)
7g.117592307G>ACA368979987CFTRc.2140G>A (p.Val714Met)
c.*1854G>A (n.*1854G>A)
c.1957G>A (p.Val653Met)
c.*440G>A (n.*440G>A)
c.*1964G>A (n.*1964G>A)
c.1714G>A (p.Val572Met)
c.1402-10519G>A (n.1402-10519G>A)
c.2050G>A (p.Val684Met)
c.2230G>A (p.Val744Met)
c.1897G>A (p.Val633Met)
 gnomAD v4
7g.117592307G>CCA368979979CFTRc.2140G>C (p.Val714Leu)
c.*1854G>C (n.*1854G>C)
c.1957G>C (p.Val653Leu)
c.*440G>C (n.*440G>C)
c.*1964G>C (n.*1964G>C)
c.1714G>C (p.Val572Leu)
c.1402-10519G>C (n.1402-10519G>C)
c.2050G>C (p.Val684Leu)
c.2230G>C (p.Val744Leu)
c.1897G>C (p.Val633Leu)
7g.117592307G=CA1737394859CFTRc.2140G= (p.Val714=)
c.*1854G= (n.*1854G=)
c.1957G= (p.Val653=)
c.*440G= (n.*440G=)
c.*1964G= (n.*1964G=)
c.1714G= (p.Val572=)
c.1402-10519G= (n.1402-10519G=)
c.2050G= (p.Val684=)
c.2230G= (p.Val744=)
c.1897G= (p.Val633=)
7g.117592307G>TCA4451146CFTRc.2140G>T (p.Val714Leu)
c.*1854G>T (n.*1854G>T)
c.1957G>T (p.Val653Leu)
c.*440G>T (n.*440G>T)
c.*1964G>T (n.*1964G>T)
c.1714G>T (p.Val572Leu)
c.1402-10519G>T (n.1402-10519G>T)
c.2050G>T (p.Val684Leu)
c.2230G>T (p.Val744Leu)
c.1897G>T (p.Val633Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.117592308T>ACA368979991CFTRc.2141T>A (p.Val714Glu)
c.*1855T>A (n.*1855T>A)
c.1958T>A (p.Val653Glu)
c.*441T>A (n.*441T>A)
c.*1965T>A (n.*1965T>A)
c.1715T>A (p.Val572Glu)
c.1402-10518T>A (n.1402-10518T>A)
c.2051T>A (p.Val684Glu)
c.2231T>A (p.Val744Glu)
c.1898T>A (p.Val633Glu)
7g.117592308T>CCA368979996CFTRc.2141T>C (p.Val714Ala)
c.*1855T>C (n.*1855T>C)
c.1958T>C (p.Val653Ala)
c.*441T>C (n.*441T>C)
c.*1965T>C (n.*1965T>C)
c.1715T>C (p.Val572Ala)
c.1402-10518T>C (n.1402-10518T>C)
c.2051T>C (p.Val684Ala)
c.2231T>C (p.Val744Ala)
c.1898T>C (p.Val633Ala)
 gnomAD v4
7g.117592308T>GCA368979993CFTRc.2141T>G (p.Val714Gly)
c.*1855T>G (n.*1855T>G)
c.1958T>G (p.Val653Gly)
c.*441T>G (n.*441T>G)
c.*1965T>G (n.*1965T>G)
c.1715T>G (p.Val572Gly)
c.1402-10518T>G (n.1402-10518T>G)
c.2051T>G (p.Val684Gly)
c.2231T>G (p.Val744Gly)
c.1898T>G (p.Val633Gly)
7g.117592309G>ACA457449377CFTRc.2142G>A (p.Val714=)
c.*1856G>A (n.*1856G>A)
c.1959G>A (p.Val653=)
c.*442G>A (n.*442G>A)
c.*1966G>A (n.*1966G>A)
c.1716G>A (p.Val572=)
c.1402-10517G>A (n.1402-10517G>A)
c.2052G>A (p.Val684=)
c.2232G>A (p.Val744=)
c.1899G>A (p.Val633=)
7g.117592309G>CCA457449378CFTRc.2142G>C (p.Val714=)
c.*1856G>C (n.*1856G>C)
c.1959G>C (p.Val653=)
c.*442G>C (n.*442G>C)
c.*1966G>C (n.*1966G>C)
c.1716G>C (p.Val572=)
c.1402-10517G>C (n.1402-10517G>C)
c.2052G>C (p.Val684=)
c.2232G>C (p.Val744=)
c.1899G>C (p.Val633=)
7g.117592309G=CA1737394863CFTRc.2142G= (p.Val714=)
c.*1856G= (n.*1856G=)
c.1959G= (p.Val653=)
c.*442G= (n.*442G=)
c.*1966G= (n.*1966G=)
c.1716G= (p.Val572=)
c.1402-10517G= (n.1402-10517G=)
c.2052G= (p.Val684=)
c.2232G= (p.Val744=)
c.1899G= (p.Val633=)
7g.117592309G>TCA457449379CFTRc.2142G>T (p.Val714=)
c.*1856G>T (n.*1856G>T)
c.1959G>T (p.Val653=)
c.*442G>T (n.*442G>T)
c.*1966G>T (n.*1966G>T)
c.1716G>T (p.Val572=)
c.1402-10517G>T (n.1402-10517G>T)
c.2052G>T (p.Val684=)
c.2232G>T (p.Val744=)
c.1899G>T (p.Val633=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.117592310C>ACA368980000CFTRc.2143C>A (p.Gln715Lys)
c.*1857C>A (n.*1857C>A)
c.1960C>A (p.Gln654Lys)
c.*443C>A (n.*443C>A)
c.*1967C>A (n.*1967C>A)
c.1717C>A (p.Gln573Lys)
c.1402-10516C>A (n.1402-10516C>A)
c.2053C>A (p.Gln685Lys)
c.2233C>A (p.Gln745Lys)
c.1900C>A (p.Gln634Lys)
7g.117592310C=CA1737394868CFTRc.2143C= (p.Gln715=)
c.*1857C= (n.*1857C=)
c.1960C= (p.Gln654=)
c.*443C= (n.*443C=)
c.*1967C= (n.*1967C=)
c.1717C= (p.Gln573=)
c.1402-10516C= (n.1402-10516C=)
c.2053C= (p.Gln685=)
c.2233C= (p.Gln745=)
c.1900C= (p.Gln634=)
7g.117592310C>GCA368980001CFTRc.2143C>G (p.Gln715Glu)
c.*1857C>G (n.*1857C>G)
c.1960C>G (p.Gln654Glu)
c.*443C>G (n.*443C>G)
c.*1967C>G (n.*1967C>G)
c.1717C>G (p.Gln573Glu)
c.1402-10516C>G (n.1402-10516C>G)
c.2053C>G (p.Gln685Glu)
c.2233C>G (p.Gln745Glu)
c.1900C>G (p.Gln634Glu)
 ClinVar
7g.117592310C>TCA326751CFTRc.2143C>T (p.Gln715Ter)
c.*1857C>T (n.*1857C>T)
c.1960C>T (p.Gln654Ter)
c.*443C>T (n.*443C>T)
c.*1967C>T (n.*1967C>T)
c.1717C>T (p.Gln573Ter)
c.1402-10516C>T (n.1402-10516C>T)
c.2053C>T (p.Gln685Ter)
c.2233C>T (p.Gln745Ter)
c.1900C>T (p.Gln634Ter)
 ClinVar dbSNP gnomAD v4
7g.117592311A>CCA368980003CFTRc.2144A>C (p.Gln715Pro)
c.*1858A>C (n.*1858A>C)
c.1961A>C (p.Gln654Pro)
c.*444A>C (n.*444A>C)
c.*1968A>C (n.*1968A>C)
c.1718A>C (p.Gln573Pro)
c.1402-10515A>C (n.1402-10515A>C)
c.2054A>C (p.Gln685Pro)
c.2234A>C (p.Gln745Pro)
c.1901A>C (p.Gln634Pro)
7g.117592311A>GCA368980004CFTRc.2144A>G (p.Gln715Arg)
c.*1858A>G (n.*1858A>G)
c.1961A>G (p.Gln654Arg)
c.*444A>G (n.*444A>G)
c.*1968A>G (n.*1968A>G)
c.1718A>G (p.Gln573Arg)
c.1402-10515A>G (n.1402-10515A>G)
c.2054A>G (p.Gln685Arg)
c.2234A>G (p.Gln745Arg)
c.1901A>G (p.Gln634Arg)
7g.117592311A>TCA368980005CFTRc.2144A>T (p.Gln715Leu)
c.*1858A>T (n.*1858A>T)
c.1961A>T (p.Gln654Leu)
c.*444A>T (n.*444A>T)
c.*1968A>T (n.*1968A>T)
c.1718A>T (p.Gln573Leu)
c.1402-10515A>T (n.1402-10515A>T)
c.2054A>T (p.Gln685Leu)
c.2234A>T (p.Gln745Leu)
c.1901A>T (p.Gln634Leu)
7g.117592312A=CA1737394880CFTRc.2145A= (p.Gln715=)
c.*1859A= (n.*1859A=)
c.1962A= (p.Gln654=)
c.*445A= (n.*445A=)
c.*1969A= (n.*1969A=)
c.1719A= (p.Gln573=)
c.1402-10514A= (n.1402-10514A=)
c.2055A= (p.Gln685=)
c.2235A= (p.Gln745=)
c.1902A= (p.Gln634=)
7g.117592312A>CCA4451147CFTRc.2145A>C (p.Gln715His)
c.*1859A>C (n.*1859A>C)
c.1962A>C (p.Gln654His)
c.*445A>C (n.*445A>C)
c.*1969A>C (n.*1969A>C)
c.1719A>C (p.Gln573His)
c.1402-10514A>C (n.1402-10514A>C)
c.2055A>C (p.Gln685His)
c.2235A>C (p.Gln745His)
c.1902A>C (p.Gln634His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117592312A>GCA457449380CFTRc.2145A>G (p.Gln715=)
c.*1859A>G (n.*1859A>G)
c.1962A>G (p.Gln654=)
c.*445A>G (n.*445A>G)
c.*1969A>G (n.*1969A>G)
c.1719A>G (p.Gln573=)
c.1402-10514A>G (n.1402-10514A>G)
c.2055A>G (p.Gln685=)
c.2235A>G (p.Gln745=)
c.1902A>G (p.Gln634=)
 ClinVar
7g.117592312A>TCA368980010CFTRc.2145A>T (p.Gln715His)
c.*1859A>T (n.*1859A>T)
c.1962A>T (p.Gln654His)
c.*445A>T (n.*445A>T)
c.*1969A>T (n.*1969A>T)
c.1719A>T (p.Gln573His)
c.1402-10514A>T (n.1402-10514A>T)
c.2055A>T (p.Gln685His)
c.2235A>T (p.Gln745His)
c.1902A>T (p.Gln634His)
7g.117592312_117592313delinsAACA1737394876CFTRc.2145_2146delinsAA (p.Gln715=)
c.*1859_*1860delinsAA (n.*1859_*1860delinsAA)
c.1962_1963delinsAA (p.Gln654=)
c.*445_*446delinsAA (n.*445_*446delinsAA)
c.*1969_*1970delinsAA (n.*1969_*1970delinsAA)
c.1719_1720delinsAA (p.Gln573=)
c.1402-10514_1402-10513delinsAA (n.1402-10514_1402-10513delinsAA)
c.2055_2056delinsAA (p.Gln685=)
c.2235_2236delinsAA (p.Gln745=)
c.1902_1903delinsAA (p.Gln634=)
7g.117592312_117592313delinsGTCA326753CFTRc.2145_2146delinsGT (p.Gln716Ter)
c.*1859_*1860delinsGT (n.*1859_*1860delinsGT)
c.1962_1963delinsGT (p.Gln655Ter)
c.*445_*446delinsGT (n.*445_*446delinsGT)
c.*1969_*1970delinsGT (n.*1969_*1970delinsGT)
c.1719_1720delinsGT (p.Gln574Ter)
c.1402-10514_1402-10513delinsGT (n.1402-10514_1402-10513delinsGT)
c.2055_2056delinsGT (p.Gln686Ter)
c.2235_2236delinsGT (p.Gln746Ter)
c.1902_1903delinsGT (p.Gln635Ter)
 ClinVar dbSNP
7g.117592313A=CA1737394887CFTRc.2146A= (p.Lys716=)
c.*1860A= (n.*1860A=)
c.1963A= (p.Lys655=)
c.*446A= (n.*446A=)
c.*1970A= (n.*1970A=)
c.1720A= (p.Lys574=)
c.1402-10513A= (n.1402-10513A=)
c.2056A= (p.Lys686=)
c.2236A= (p.Lys746=)
c.1903A= (p.Lys635=)
7g.117592313A>CCA368980011CFTRc.2146A>C (p.Lys716Gln)
c.*1860A>C (n.*1860A>C)
c.1963A>C (p.Lys655Gln)
c.*446A>C (n.*446A>C)
c.*1970A>C (n.*1970A>C)
c.1720A>C (p.Lys574Gln)
c.1402-10513A>C (n.1402-10513A>C)
c.2056A>C (p.Lys686Gln)
c.2236A>C (p.Lys746Gln)
c.1903A>C (p.Lys635Gln)
7g.117592313A>GCA368980012CFTRc.2146A>G (p.Lys716Glu)
c.*1860A>G (n.*1860A>G)
c.1963A>G (p.Lys655Glu)
c.*446A>G (n.*446A>G)
c.*1970A>G (n.*1970A>G)
c.1720A>G (p.Lys574Glu)
c.1402-10513A>G (n.1402-10513A>G)
c.2056A>G (p.Lys686Glu)
c.2236A>G (p.Lys746Glu)
c.1903A>G (p.Lys635Glu)
7g.117592313A>TCA254113CFTRc.2146A>T (p.Lys716Ter)
c.*1860A>T (n.*1860A>T)
c.1963A>T (p.Lys655Ter)
c.*446A>T (n.*446A>T)
c.*1970A>T (n.*1970A>T)
c.1720A>T (p.Lys574Ter)
c.1402-10513A>T (n.1402-10513A>T)
c.2056A>T (p.Lys686Ter)
c.2236A>T (p.Lys746Ter)
c.1903A>T (p.Lys635Ter)
 ClinVar dbSNP
7g.117592313_117592314insTTTCCATTGTGCCA2573141690CFTRc.2146_2147insTTTCCATTGTGC (p.Lys716delinsIleSerIleValGln)
c.*1860_*1861insTTTCCATTGTGC (n.*1860_*1861insTTTCCATTGTGC)
c.1963_1964insTTTCCATTGTGC (p.Lys655delinsIleSerIleValGln)
c.*446_*447insTTTCCATTGTGC (n.*446_*447insTTTCCATTGTGC)
c.*1970_*1971insTTTCCATTGTGC (n.*1970_*1971insTTTCCATTGTGC)
c.1720_1721insTTTCCATTGTGC (p.Lys574delinsIleSerIleValGln)
c.1402-10513_1402-10512insTTTCCATTGTGC (n.1402-10513_1402-10512insTTTCCATTGTGC)
c.2056_2057insTTTCCATTGTGC (p.Lys686delinsIleSerIleValGln)
c.2236_2237insTTTCCATTGTGC (p.Lys746delinsIleSerIleValGln)
c.1903_1904insTTTCCATTGTGC (p.Lys635delinsIleSerIleValGln)
 ClinVar dbSNP
7g.117592314A>CCA368980019CFTRc.2147A>C (p.Lys716Thr)
c.*1861A>C (n.*1861A>C)
c.1964A>C (p.Lys655Thr)
c.*447A>C (n.*447A>C)
c.*1971A>C (n.*1971A>C)
c.1721A>C (p.Lys574Thr)
c.1402-10512A>C (n.1402-10512A>C)
c.2057A>C (p.Lys686Thr)
c.2237A>C (p.Lys746Thr)
c.1904A>C (p.Lys635Thr)
7g.117592314A>GCA368980017CFTRc.2147A>G (p.Lys716Arg)
c.*1861A>G (n.*1861A>G)
c.1964A>G (p.Lys655Arg)
c.*447A>G (n.*447A>G)
c.*1971A>G (n.*1971A>G)
c.1721A>G (p.Lys574Arg)
c.1402-10512A>G (n.1402-10512A>G)
c.2057A>G (p.Lys686Arg)
c.2237A>G (p.Lys746Arg)
c.1904A>G (p.Lys635Arg)
7g.117592314A>TCA368980018CFTRc.2147A>T (p.Lys716Met)
c.*1861A>T (n.*1861A>T)
c.1964A>T (p.Lys655Met)
c.*447A>T (n.*447A>T)
c.*1971A>T (n.*1971A>T)
c.1721A>T (p.Lys574Met)
c.1402-10512A>T (n.1402-10512A>T)
c.2057A>T (p.Lys686Met)
c.2237A>T (p.Lys746Met)
c.1904A>T (p.Lys635Met)
7g.117592315G>ACA457449381CFTRc.2148G>A (p.Lys716=)
c.*1862G>A (n.*1862G>A)
c.1965G>A (p.Lys655=)
c.*448G>A (n.*448G>A)
c.*1972G>A (n.*1972G>A)
c.1722G>A (p.Lys574=)
c.1402-10511G>A (n.1402-10511G>A)
c.2058G>A (p.Lys686=)
c.2238G>A (p.Lys746=)
c.1905G>A (p.Lys635=)
 ClinVar dbSNP
7g.117592315G>CCA368980020CFTRc.2148G>C (p.Lys716Asn)
c.*1862G>C (n.*1862G>C)
c.1965G>C (p.Lys655Asn)
c.*448G>C (n.*448G>C)
c.*1972G>C (n.*1972G>C)
c.1722G>C (p.Lys574Asn)
c.1402-10511G>C (n.1402-10511G>C)
c.2058G>C (p.Lys686Asn)
c.2238G>C (p.Lys746Asn)
c.1905G>C (p.Lys635Asn)
7g.117592315G>TCA368980021CFTRc.2148G>T (p.Lys716Asn)
c.*1862G>T (n.*1862G>T)
c.1965G>T (p.Lys655Asn)
c.*448G>T (n.*448G>T)
c.*1972G>T (n.*1972G>T)
c.1722G>T (p.Lys574Asn)
c.1402-10511G>T (n.1402-10511G>T)
c.2058G>T (p.Lys686Asn)
c.2238G>T (p.Lys746Asn)
c.1905G>T (p.Lys635Asn)
 COSMIC
7g.117592316A>CCA368980022CFTRc.2149A>C (p.Thr717Pro)
c.*1863A>C (n.*1863A>C)
c.1966A>C (p.Thr656Pro)
c.*449A>C (n.*449A>C)
c.*1973A>C (n.*1973A>C)
c.1723A>C (p.Thr575Pro)
c.1402-10510A>C (n.1402-10510A>C)
c.2059A>C (p.Thr687Pro)
c.2239A>C (p.Thr747Pro)
c.1906A>C (p.Thr636Pro)
7g.117592316A>GCA368980025CFTRc.2149A>G (p.Thr717Ala)
c.*1863A>G (n.*1863A>G)
c.1966A>G (p.Thr656Ala)
c.*449A>G (n.*449A>G)
c.*1973A>G (n.*1973A>G)
c.1723A>G (p.Thr575Ala)
c.1402-10510A>G (n.1402-10510A>G)
c.2059A>G (p.Thr687Ala)
c.2239A>G (p.Thr747Ala)
c.1906A>G (p.Thr636Ala)
 gnomAD v4
7g.117592316A>TCA368980029CFTRc.2149A>T (p.Thr717Ser)
c.*1863A>T (n.*1863A>T)
c.1966A>T (p.Thr656Ser)
c.*449A>T (n.*449A>T)
c.*1973A>T (n.*1973A>T)
c.1723A>T (p.Thr575Ser)
c.1402-10510A>T (n.1402-10510A>T)
c.2059A>T (p.Thr687Ser)
c.2239A>T (p.Thr747Ser)
c.1906A>T (p.Thr636Ser)
7g.117592317C>ACA368980030CFTRc.2150C>A (p.Thr717Asn)
c.*1864C>A (n.*1864C>A)
c.1967C>A (p.Thr656Asn)
c.*450C>A (n.*450C>A)
c.*1974C>A (n.*1974C>A)
c.1724C>A (p.Thr575Asn)
c.1402-10509C>A (n.1402-10509C>A)
c.2060C>A (p.Thr687Asn)
c.2240C>A (p.Thr747Asn)
c.1907C>A (p.Thr636Asn)
 dbSNP gnomAD v3 gnomAD v4
7g.117592317C=CA1737394891CFTRc.2150C= (p.Thr717=)
c.*1864C= (n.*1864C=)
c.1967C= (p.Thr656=)
c.*450C= (n.*450C=)
c.*1974C= (n.*1974C=)
c.1724C= (p.Thr575=)
c.1402-10509C= (n.1402-10509C=)
c.2060C= (p.Thr687=)
c.2240C= (p.Thr747=)
c.1907C= (p.Thr636=)
7g.117592317C>GCA368980032CFTRc.2150C>G (p.Thr717Ser)
c.*1864C>G (n.*1864C>G)
c.1967C>G (p.Thr656Ser)
c.*450C>G (n.*450C>G)
c.*1974C>G (n.*1974C>G)
c.1724C>G (p.Thr575Ser)
c.1402-10509C>G (n.1402-10509C>G)
c.2060C>G (p.Thr687Ser)
c.2240C>G (p.Thr747Ser)
c.1907C>G (p.Thr636Ser)
7g.117592317C>TCA4451148CFTRc.2150C>T (p.Thr717Ile)
c.*1864C>T (n.*1864C>T)
c.1967C>T (p.Thr656Ile)
c.*450C>T (n.*450C>T)
c.*1974C>T (n.*1974C>T)
c.1724C>T (p.Thr575Ile)
c.1402-10509C>T (n.1402-10509C>T)
c.2060C>T (p.Thr687Ile)
c.2240C>T (p.Thr747Ile)
c.1907C>T (p.Thr636Ile)
 dbSNP ExAC gnomAD v4
7g.117592318T>ACA457449382CFTRc.2151T>A (p.Thr717=)
c.*1865T>A (n.*1865T>A)
c.1968T>A (p.Thr656=)
c.*451T>A (n.*451T>A)
c.*1975T>A (n.*1975T>A)
c.1725T>A (p.Thr575=)
c.1402-10508T>A (n.1402-10508T>A)
c.2061T>A (p.Thr687=)
c.2241T>A (p.Thr747=)
c.1908T>A (p.Thr636=)
7g.117592318T>CCA457449383CFTRc.2151T>C (p.Thr717=)
c.*1865T>C (n.*1865T>C)
c.1968T>C (p.Thr656=)
c.*451T>C (n.*451T>C)
c.*1975T>C (n.*1975T>C)
c.1725T>C (p.Thr575=)
c.1402-10508T>C (n.1402-10508T>C)
c.2061T>C (p.Thr687=)
c.2241T>C (p.Thr747=)
c.1908T>C (p.Thr636=)
 ClinVar
7g.117592318T>GCA457449384CFTRc.2151T>G (p.Thr717=)
c.*1865T>G (n.*1865T>G)
c.1968T>G (p.Thr656=)
c.*451T>G (n.*451T>G)
c.*1975T>G (n.*1975T>G)
c.1725T>G (p.Thr575=)
c.1402-10508T>G (n.1402-10508T>G)
c.2061T>G (p.Thr687=)
c.2241T>G (p.Thr747=)
c.1908T>G (p.Thr636=)
 ClinVar dbSNP
7g.117592319C>ACA368980038CFTRc.2152C>A (p.Pro718Thr)
c.*1866C>A (n.*1866C>A)
c.1969C>A (p.Pro657Thr)
c.*452C>A (n.*452C>A)
c.*1976C>A (n.*1976C>A)
c.1726C>A (p.Pro576Thr)
c.1402-10507C>A (n.1402-10507C>A)
c.2062C>A (p.Pro688Thr)
c.2242C>A (p.Pro748Thr)
c.1909C>A (p.Pro637Thr)
7g.117592319C>GCA368980041CFTRc.2152C>G (p.Pro718Ala)
c.*1866C>G (n.*1866C>G)
c.1969C>G (p.Pro657Ala)
c.*452C>G (n.*452C>G)
c.*1976C>G (n.*1976C>G)
c.1726C>G (p.Pro576Ala)
c.1402-10507C>G (n.1402-10507C>G)
c.2062C>G (p.Pro688Ala)
c.2242C>G (p.Pro748Ala)
c.1909C>G (p.Pro637Ala)
7g.117592319C>TCA368980046CFTRc.2152C>T (p.Pro718Ser)
c.*1866C>T (n.*1866C>T)
c.1969C>T (p.Pro657Ser)
c.*452C>T (n.*452C>T)
c.*1976C>T (n.*1976C>T)
c.1726C>T (p.Pro576Ser)
c.1402-10507C>T (n.1402-10507C>T)
c.2062C>T (p.Pro688Ser)
c.2242C>T (p.Pro748Ser)
c.1909C>T (p.Pro637Ser)
 ClinVar
7g.117592320C>ACA368980060CFTRc.2153C>A (p.Pro718His)
c.*1867C>A (n.*1867C>A)
c.1970C>A (p.Pro657His)
c.*453C>A (n.*453C>A)
c.*1977C>A (n.*1977C>A)
c.1727C>A (p.Pro576His)
c.1402-10506C>A (n.1402-10506C>A)
c.2063C>A (p.Pro688His)
c.2243C>A (p.Pro748His)
c.1910C>A (p.Pro637His)
7g.117592320C=CA1737394897CFTRc.2153C= (p.Pro718=)
c.*1867C= (n.*1867C=)
c.1970C= (p.Pro657=)
c.*453C= (n.*453C=)
c.*1977C= (n.*1977C=)
c.1727C= (p.Pro576=)
c.1402-10506C= (n.1402-10506C=)
c.2063C= (p.Pro688=)
c.2243C= (p.Pro748=)
c.1910C= (p.Pro637=)
7g.117592320C>GCA4451149CFTRc.2153C>G (p.Pro718Arg)
c.*1867C>G (n.*1867C>G)
c.1970C>G (p.Pro657Arg)
c.*453C>G (n.*453C>G)
c.*1977C>G (n.*1977C>G)
c.1727C>G (p.Pro576Arg)
c.1402-10506C>G (n.1402-10506C>G)
c.2063C>G (p.Pro688Arg)
c.2243C>G (p.Pro748Arg)
c.1910C>G (p.Pro637Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117592320C>TCA368980051CFTRc.2153C>T (p.Pro718Leu)
c.*1867C>T (n.*1867C>T)
c.1970C>T (p.Pro657Leu)
c.*453C>T (n.*453C>T)
c.*1977C>T (n.*1977C>T)
c.1727C>T (p.Pro576Leu)
c.1402-10506C>T (n.1402-10506C>T)
c.2063C>T (p.Pro688Leu)
c.2243C>T (p.Pro748Leu)
c.1910C>T (p.Pro637Leu)
7g.117592321C>ACA457449386CFTRc.2154C>A (p.Pro718=)
c.*1868C>A (n.*1868C>A)
c.1971C>A (p.Pro657=)
c.*454C>A (n.*454C>A)
c.*1978C>A (n.*1978C>A)
c.1728C>A (p.Pro576=)
c.1402-10505C>A (n.1402-10505C>A)
c.2064C>A (p.Pro688=)
c.2244C>A (p.Pro748=)
c.1911C>A (p.Pro637=)
7g.117592321C>GCA457449385CFTRc.2154C>G (p.Pro718=)
c.*1868C>G (n.*1868C>G)
c.1971C>G (p.Pro657=)
c.*454C>G (n.*454C>G)
c.*1978C>G (n.*1978C>G)
c.1728C>G (p.Pro576=)
c.1402-10505C>G (n.1402-10505C>G)
c.2064C>G (p.Pro688=)
c.2244C>G (p.Pro748=)
c.1911C>G (p.Pro637=)
7g.117592321C>TCA457449387CFTRc.2154C>T (p.Pro718=)
c.*1868C>T (n.*1868C>T)
c.1971C>T (p.Pro657=)
c.*454C>T (n.*454C>T)
c.*1978C>T (n.*1978C>T)
c.1728C>T (p.Pro576=)
c.1402-10505C>T (n.1402-10505C>T)
c.2064C>T (p.Pro688=)
c.2244C>T (p.Pro748=)
c.1911C>T (p.Pro637=)
 ClinVar
7g.117592322T>ACA368980061CFTRc.2155T>A (p.Leu719Ile)
c.*1869T>A (n.*1869T>A)
c.1972T>A (p.Leu658Ile)
c.*455T>A (n.*455T>A)
c.*1979T>A (n.*1979T>A)
c.1729T>A (p.Leu577Ile)
c.1402-10504T>A (n.1402-10504T>A)
c.2065T>A (p.Leu689Ile)
c.2245T>A (p.Leu749Ile)
c.1912T>A (p.Leu638Ile)
7g.117592322T>CCA457449388CFTRc.2155T>C (p.Leu719=)
c.*1869T>C (n.*1869T>C)
c.1972T>C (p.Leu658=)
c.*455T>C (n.*455T>C)
c.*1979T>C (n.*1979T>C)
c.1729T>C (p.Leu577=)
c.1402-10504T>C (n.1402-10504T>C)
c.2065T>C (p.Leu689=)
c.2245T>C (p.Leu749=)
c.1912T>C (p.Leu638=)
7g.117592322T>GCA368980062CFTRc.2155T>G (p.Leu719Val)
c.*1869T>G (n.*1869T>G)
c.1972T>G (p.Leu658Val)
c.*455T>G (n.*455T>G)
c.*1979T>G (n.*1979T>G)
c.1729T>G (p.Leu577Val)
c.1402-10504T>G (n.1402-10504T>G)
c.2065T>G (p.Leu689Val)
c.2245T>G (p.Leu749Val)
c.1912T>G (p.Leu638Val)
7g.117592323T>ACA326754CFTRc.2156T>A (p.Leu719Ter)
c.*1870T>A (n.*1870T>A)
c.1973T>A (p.Leu658Ter)
c.*456T>A (n.*456T>A)
c.*1980T>A (n.*1980T>A)
c.1730T>A (p.Leu577Ter)
c.1402-10503T>A (n.1402-10503T>A)
c.2066T>A (p.Leu689Ter)
c.2246T>A (p.Leu749Ter)
c.1913T>A (p.Leu638Ter)
 ClinVar dbSNP
7g.117592323T>CCA368980077CFTRc.2156T>C (p.Leu719Ser)
c.*1870T>C (n.*1870T>C)
c.1973T>C (p.Leu658Ser)
c.*456T>C (n.*456T>C)
c.*1980T>C (n.*1980T>C)
c.1730T>C (p.Leu577Ser)
c.1402-10503T>C (n.1402-10503T>C)
c.2066T>C (p.Leu689Ser)
c.2246T>C (p.Leu749Ser)
c.1913T>C (p.Leu638Ser)
7g.117592323T>GCA368980084CFTRc.2156T>G (p.Leu719Ter)
c.*1870T>G (n.*1870T>G)
c.1973T>G (p.Leu658Ter)
c.*456T>G (n.*456T>G)
c.*1980T>G (n.*1980T>G)
c.1730T>G (p.Leu577Ter)
c.1402-10503T>G (n.1402-10503T>G)
c.2066T>G (p.Leu689Ter)
c.2246T>G (p.Leu749Ter)
c.1913T>G (p.Leu638Ter)
7g.117592323T=CA1737394903CFTRc.2156T= (p.Leu719=)
c.*1870T= (n.*1870T=)
c.1973T= (p.Leu658=)
c.*456T= (n.*456T=)
c.*1980T= (n.*1980T=)
c.1730T= (p.Leu577=)
c.1402-10503T= (n.1402-10503T=)
c.2066T= (p.Leu689=)
c.2246T= (p.Leu749=)
c.1913T= (p.Leu638=)
7g.117592324A>CCA368980087CFTRc.2157A>C (p.Leu719Phe)
c.*1871A>C (n.*1871A>C)
c.1974A>C (p.Leu658Phe)
c.*457A>C (n.*457A>C)
c.*1981A>C (n.*1981A>C)
c.1731A>C (p.Leu577Phe)
c.1402-10502A>C (n.1402-10502A>C)
c.2067A>C (p.Leu689Phe)
c.2247A>C (p.Leu749Phe)
c.1914A>C (p.Leu638Phe)
7g.117592324A>GCA457449389CFTRc.2157A>G (p.Leu719=)
c.*1871A>G (n.*1871A>G)
c.1974A>G (p.Leu658=)
c.*457A>G (n.*457A>G)
c.*1981A>G (n.*1981A>G)
c.1731A>G (p.Leu577=)
c.1402-10502A>G (n.1402-10502A>G)
c.2067A>G (p.Leu689=)
c.2247A>G (p.Leu749=)
c.1914A>G (p.Leu638=)
7g.117592324A>TCA368980089CFTRc.2157A>T (p.Leu719Phe)
c.*1871A>T (n.*1871A>T)
c.1974A>T (p.Leu658Phe)
c.*457A>T (n.*457A>T)
c.*1981A>T (n.*1981A>T)
c.1731A>T (p.Leu577Phe)
c.1402-10502A>T (n.1402-10502A>T)
c.2067A>T (p.Leu689Phe)
c.2247A>T (p.Leu749Phe)
c.1914A>T (p.Leu638Phe)
7g.117592324_117592333delinsGTAAGCA2695208511CFTRc.2157_2166delinsGTAAG (p.Gln720Ter)
c.*1871_*1880delinsGTAAG (n.*1871_*1880delinsGTAAG)
c.1974_1983delinsGTAAG (p.Gln659Ter)
c.*457_*466delinsGTAAG (n.*457_*466delinsGTAAG)
c.*1981_*1990delinsGTAAG (n.*1981_*1990delinsGTAAG)
c.1731_1740delinsGTAAG (p.Gln578Ter)
c.1402-10502_1402-10493delinsGTAAG (n.1402-10502_1402-10493delinsGTAAG)
c.2067_2076delinsGTAAG (p.Gln690Ter)
c.2247_2256delinsGTAAG (p.Gln750Ter)
c.1914_1923delinsGTAAG (p.Gln639Ter)
7g.117592325C>ACA368980093CFTRc.2158C>A (p.Gln720Lys)
c.*1872C>A (n.*1872C>A)
c.1975C>A (p.Gln659Lys)
c.*458C>A (n.*458C>A)
c.*1982C>A (n.*1982C>A)
c.1732C>A (p.Gln578Lys)
c.1402-10501C>A (n.1402-10501C>A)
c.2068C>A (p.Gln690Lys)
c.2248C>A (p.Gln750Lys)
c.1915C>A (p.Gln639Lys)
7g.117592325C=CA1737394909CFTRc.2158C= (p.Gln720=)
c.*1872C= (n.*1872C=)
c.1975C= (p.Gln659=)
c.*458C= (n.*458C=)
c.*1982C= (n.*1982C=)
c.1732C= (p.Gln578=)
c.1402-10501C= (n.1402-10501C=)
c.2068C= (p.Gln690=)
c.2248C= (p.Gln750=)
c.1915C= (p.Gln639=)
7g.117592325C>GCA368980102CFTRc.2158C>G (p.Gln720Glu)
c.*1872C>G (n.*1872C>G)
c.1975C>G (p.Gln659Glu)
c.*458C>G (n.*458C>G)
c.*1982C>G (n.*1982C>G)
c.1732C>G (p.Gln578Glu)
c.1402-10501C>G (n.1402-10501C>G)
c.2068C>G (p.Gln690Glu)
c.2248C>G (p.Gln750Glu)
c.1915C>G (p.Gln639Glu)
7g.117592325C>TCA326756CFTRc.2158C>T (p.Gln720Ter)
c.*1872C>T (n.*1872C>T)
c.1975C>T (p.Gln659Ter)
c.*458C>T (n.*458C>T)
c.*1982C>T (n.*1982C>T)
c.1732C>T (p.Gln578Ter)
c.1402-10501C>T (n.1402-10501C>T)
c.2068C>T (p.Gln690Ter)
c.2248C>T (p.Gln750Ter)
c.1915C>T (p.Gln639Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.117592326A=CA1737394915CFTRc.2159A= (p.Gln720=)
c.*1873A= (n.*1873A=)
c.1976A= (p.Gln659=)
c.*459A= (n.*459A=)
c.*1983A= (n.*1983A=)
c.1733A= (p.Gln578=)
c.1402-10500A= (n.1402-10500A=)
c.2069A= (p.Gln690=)
c.2249A= (p.Gln750=)
c.1916A= (p.Gln639=)
7g.117592326A>CCA368980111CFTRc.2159A>C (p.Gln720Pro)
c.*1873A>C (n.*1873A>C)
c.1976A>C (p.Gln659Pro)
c.*459A>C (n.*459A>C)
c.*1983A>C (n.*1983A>C)
c.1733A>C (p.Gln578Pro)
c.1402-10500A>C (n.1402-10500A>C)
c.2069A>C (p.Gln690Pro)
c.2249A>C (p.Gln750Pro)
c.1916A>C (p.Gln639Pro)
7g.117592326A>GCA4451150CFTRc.2159A>G (p.Gln720Arg)
c.*1873A>G (n.*1873A>G)
c.1976A>G (p.Gln659Arg)
c.*459A>G (n.*459A>G)
c.*1983A>G (n.*1983A>G)
c.1733A>G (p.Gln578Arg)
c.1402-10500A>G (n.1402-10500A>G)
c.2069A>G (p.Gln690Arg)
c.2249A>G (p.Gln750Arg)
c.1916A>G (p.Gln639Arg)
 dbSNP ExAC gnomAD v2
7g.117592326A>TCA368980115CFTRc.2159A>T (p.Gln720Leu)
c.*1873A>T (n.*1873A>T)
c.1976A>T (p.Gln659Leu)
c.*459A>T (n.*459A>T)
c.*1983A>T (n.*1983A>T)
c.1733A>T (p.Gln578Leu)
c.1402-10500A>T (n.1402-10500A>T)
c.2069A>T (p.Gln690Leu)
c.2249A>T (p.Gln750Leu)
c.1916A>T (p.Gln639Leu)
7g.117592328delCA2580614246CFTRc.2161del (p.Met721Ter)
c.*1875del (n.*1875del)
c.1978del (p.Met660Ter)
c.*461del (n.*461del)
c.*1985del (n.*1985del)
c.1735del (p.Met579Ter)
c.1402-10498del (n.1402-10498del)
c.2071del (p.Met691Ter)
c.2251del (p.Met751Ter)
c.1918del (p.Met640Ter)
 ClinVar
7g.117592327A>CCA368980117CFTRc.2160A>C (p.Gln720His)
c.*1874A>C (n.*1874A>C)
c.1977A>C (p.Gln659His)
c.*460A>C (n.*460A>C)
c.*1984A>C (n.*1984A>C)
c.1734A>C (p.Gln578His)
c.1402-10499A>C (n.1402-10499A>C)
c.2070A>C (p.Gln690His)
c.2250A>C (p.Gln750His)
c.1917A>C (p.Gln639His)
7g.117592327A>GCA457449390CFTRc.2160A>G (p.Gln720=)
c.*1874A>G (n.*1874A>G)
c.1977A>G (p.Gln659=)
c.*460A>G (n.*460A>G)
c.*1984A>G (n.*1984A>G)
c.1734A>G (p.Gln578=)
c.1402-10499A>G (n.1402-10499A>G)
c.2070A>G (p.Gln690=)
c.2250A>G (p.Gln750=)
c.1917A>G (p.Gln639=)
7g.117592327A>TCA368980116CFTRc.2160A>T (p.Gln720His)
c.*1874A>T (n.*1874A>T)
c.1977A>T (p.Gln659His)
c.*460A>T (n.*460A>T)
c.*1984A>T (n.*1984A>T)
c.1734A>T (p.Gln578His)
c.1402-10499A>T (n.1402-10499A>T)
c.2070A>T (p.Gln690His)
c.2250A>T (p.Gln750His)
c.1917A>T (p.Gln639His)
7g.117592328A>CCA368980119CFTRc.2161A>C (p.Met721Leu)
c.*1875A>C (n.*1875A>C)
c.1978A>C (p.Met660Leu)
c.*461A>C (n.*461A>C)
c.*1985A>C (n.*1985A>C)
c.1735A>C (p.Met579Leu)
c.1402-10498A>C (n.1402-10498A>C)
c.2071A>C (p.Met691Leu)
c.2251A>C (p.Met751Leu)
c.1918A>C (p.Met640Leu)
7g.117592328A>GCA368980122CFTRc.2161A>G (p.Met721Val)
c.*1875A>G (n.*1875A>G)
c.1978A>G (p.Met660Val)
c.*461A>G (n.*461A>G)
c.*1985A>G (n.*1985A>G)
c.1735A>G (p.Met579Val)
c.1402-10498A>G (n.1402-10498A>G)
c.2071A>G (p.Met691Val)
c.2251A>G (p.Met751Val)
c.1918A>G (p.Met640Val)
 gnomAD v4
7g.117592328A>TCA368980125CFTRc.2161A>T (p.Met721Leu)
c.*1875A>T (n.*1875A>T)
c.1978A>T (p.Met660Leu)
c.*461A>T (n.*461A>T)
c.*1985A>T (n.*1985A>T)
c.1735A>T (p.Met579Leu)
c.1402-10498A>T (n.1402-10498A>T)
c.2071A>T (p.Met691Leu)
c.2251A>T (p.Met751Leu)
c.1918A>T (p.Met640Leu)
7g.117592329T>ACA368980128CFTRc.2162T>A (p.Met721Lys)
c.*1876T>A (n.*1876T>A)
c.1979T>A (p.Met660Lys)
c.*462T>A (n.*462T>A)
c.*1986T>A (n.*1986T>A)
c.1736T>A (p.Met579Lys)
c.1402-10497T>A (n.1402-10497T>A)
c.2072T>A (p.Met691Lys)
c.2252T>A (p.Met751Lys)
c.1919T>A (p.Met640Lys)
7g.117592329T>CCA368980130CFTRc.2162T>C (p.Met721Thr)
c.*1876T>C (n.*1876T>C)
c.1979T>C (p.Met660Thr)
c.*462T>C (n.*462T>C)
c.*1986T>C (n.*1986T>C)
c.1736T>C (p.Met579Thr)
c.1402-10497T>C (n.1402-10497T>C)
c.2072T>C (p.Met691Thr)
c.2252T>C (p.Met751Thr)
c.1919T>C (p.Met640Thr)
7g.117592329T>GCA368980134CFTRc.2162T>G (p.Met721Arg)
c.*1876T>G (n.*1876T>G)
c.1979T>G (p.Met660Arg)
c.*462T>G (n.*462T>G)
c.*1986T>G (n.*1986T>G)
c.1736T>G (p.Met579Arg)
c.1402-10497T>G (n.1402-10497T>G)
c.2072T>G (p.Met691Arg)
c.2252T>G (p.Met751Arg)
c.1919T>G (p.Met640Arg)
7g.117592330G>ACA368980137CFTRc.2163G>A (p.Met721Ile)
c.*1877G>A (n.*1877G>A)
c.1980G>A (p.Met660Ile)
c.*463G>A (n.*463G>A)
c.*1987G>A (n.*1987G>A)
c.1737G>A (p.Met579Ile)
c.1402-10496G>A (n.1402-10496G>A)
c.2073G>A (p.Met691Ile)
c.2253G>A (p.Met751Ile)
c.1920G>A (p.Met640Ile)
7g.117592330G>CCA368980139CFTRc.2163G>C (p.Met721Ile)
c.*1877G>C (n.*1877G>C)
c.1980G>C (p.Met660Ile)
c.*463G>C (n.*463G>C)
c.*1987G>C (n.*1987G>C)
c.1737G>C (p.Met579Ile)
c.1402-10496G>C (n.1402-10496G>C)
c.2073G>C (p.Met691Ile)
c.2253G>C (p.Met751Ile)
c.1920G>C (p.Met640Ile)
7g.117592330G>TCA368980142CFTRc.2163G>T (p.Met721Ile)
c.*1877G>T (n.*1877G>T)
c.1980G>T (p.Met660Ile)
c.*463G>T (n.*463G>T)
c.*1987G>T (n.*1987G>T)
c.1737G>T (p.Met579Ile)
c.1402-10496G>T (n.1402-10496G>T)
c.2073G>T (p.Met691Ile)
c.2253G>T (p.Met751Ile)
c.1920G>T (p.Met640Ile)
7g.117592331A>CCA368980146CFTRc.2164A>C (p.Asn722His)
c.*1878A>C (n.*1878A>C)
c.1981A>C (p.Asn661His)
c.*464A>C (n.*464A>C)
c.*1988A>C (n.*1988A>C)
c.1738A>C (p.Asn580His)
c.1402-10495A>C (n.1402-10495A>C)
c.2074A>C (p.Asn692His)
c.2254A>C (p.Asn752His)
c.1921A>C (p.Asn641His)
7g.117592331A>GCA368980148CFTRc.2164A>G (p.Asn722Asp)
c.*1878A>G (n.*1878A>G)
c.1981A>G (p.Asn661Asp)
c.*464A>G (n.*464A>G)
c.*1988A>G (n.*1988A>G)
c.1738A>G (p.Asn580Asp)
c.1402-10495A>G (n.1402-10495A>G)
c.2074A>G (p.Asn692Asp)
c.2254A>G (p.Asn752Asp)
c.1921A>G (p.Asn641Asp)
7g.117592331A>TCA368980150CFTRc.2164A>T (p.Asn722Tyr)
c.*1878A>T (n.*1878A>T)
c.1981A>T (p.Asn661Tyr)
c.*464A>T (n.*464A>T)
c.*1988A>T (n.*1988A>T)
c.1738A>T (p.Asn580Tyr)
c.1402-10495A>T (n.1402-10495A>T)
c.2074A>T (p.Asn692Tyr)
c.2254A>T (p.Asn752Tyr)
c.1921A>T (p.Asn641Tyr)
7g.117592332A>CCA368980156CFTRc.2165A>C (p.Asn722Thr)
c.*1879A>C (n.*1879A>C)
c.1982A>C (p.Asn661Thr)
c.*465A>C (n.*465A>C)
c.*1989A>C (n.*1989A>C)
c.1739A>C (p.Asn580Thr)
c.1402-10494A>C (n.1402-10494A>C)
c.2075A>C (p.Asn692Thr)
c.2255A>C (p.Asn752Thr)
c.1922A>C (p.Asn641Thr)
7g.117592332A>GCA368980160CFTRc.2165A>G (p.Asn722Ser)
c.*1879A>G (n.*1879A>G)
c.1982A>G (p.Asn661Ser)
c.*465A>G (n.*465A>G)
c.*1989A>G (n.*1989A>G)
c.1739A>G (p.Asn580Ser)
c.1402-10494A>G (n.1402-10494A>G)
c.2075A>G (p.Asn692Ser)
c.2255A>G (p.Asn752Ser)
c.1922A>G (p.Asn641Ser)
7g.117592332A>TCA368980158CFTRc.2165A>T (p.Asn722Ile)
c.*1879A>T (n.*1879A>T)
c.1982A>T (p.Asn661Ile)
c.*465A>T (n.*465A>T)
c.*1989A>T (n.*1989A>T)
c.1739A>T (p.Asn580Ile)
c.1402-10494A>T (n.1402-10494A>T)
c.2075A>T (p.Asn692Ile)
c.2255A>T (p.Asn752Ile)
c.1922A>T (p.Asn641Ile)
 gnomAD v4
7g.117592333T>ACA368980162CFTRc.2166T>A (p.Asn722Lys)
c.*1880T>A (n.*1880T>A)
c.1983T>A (p.Asn661Lys)
c.*466T>A (n.*466T>A)
c.*1990T>A (n.*1990T>A)
c.1740T>A (p.Asn580Lys)
c.1402-10493T>A (n.1402-10493T>A)
c.2076T>A (p.Asn692Lys)
c.2256T>A (p.Asn752Lys)
c.1923T>A (p.Asn641Lys)
 ClinVar dbSNP
7g.117592333T>CCA457449391CFTRc.2166T>C (p.Asn722=)
c.*1880T>C (n.*1880T>C)
c.1983T>C (p.Asn661=)
c.*466T>C (n.*466T>C)
c.*1990T>C (n.*1990T>C)
c.1740T>C (p.Asn580=)
c.1402-10493T>C (n.1402-10493T>C)
c.2076T>C (p.Asn692=)
c.2256T>C (p.Asn752=)
c.1923T>C (p.Asn641=)
 ClinVar dbSNP
7g.117592333T>GCA368980168CFTRc.2166T>G (p.Asn722Lys)
c.*1880T>G (n.*1880T>G)
c.1983T>G (p.Asn661Lys)
c.*466T>G (n.*466T>G)
c.*1990T>G (n.*1990T>G)
c.1740T>G (p.Asn580Lys)
c.1402-10493T>G (n.1402-10493T>G)
c.2076T>G (p.Asn692Lys)
c.2256T>G (p.Asn752Lys)
c.1923T>G (p.Asn641Lys)
7g.117592333T=CA1737394920CFTRc.2166T= (p.Asn722=)
c.*1880T= (n.*1880T=)
c.1983T= (p.Asn661=)
c.*466T= (n.*466T=)
c.*1990T= (n.*1990T=)
c.1740T= (p.Asn580=)
c.1402-10493T= (n.1402-10493T=)
c.2076T= (p.Asn692=)
c.2256T= (p.Asn752=)
c.1923T= (p.Asn641=)
7g.117592334G>ACA368980172CFTRc.2167G>A (p.Gly723Ser)
c.*1881G>A (n.*1881G>A)
c.1984G>A (p.Gly662Ser)
c.*467G>A (n.*467G>A)
c.*1991G>A (n.*1991G>A)
c.1741G>A (p.Gly581Ser)
c.1402-10492G>A (n.1402-10492G>A)
c.2077G>A (p.Gly693Ser)
c.2257G>A (p.Gly753Ser)
c.1924G>A (p.Gly642Ser)
7g.117592334G>CCA368980179CFTRc.2167G>C (p.Gly723Arg)
c.*1881G>C (n.*1881G>C)
c.1984G>C (p.Gly662Arg)
c.*467G>C (n.*467G>C)
c.*1991G>C (n.*1991G>C)
c.1741G>C (p.Gly581Arg)
c.1402-10492G>C (n.1402-10492G>C)
c.2077G>C (p.Gly693Arg)
c.2257G>C (p.Gly753Arg)
c.1924G>C (p.Gly642Arg)
7g.117592334G>TCA368980174CFTRc.2167G>T (p.Gly723Cys)
c.*1881G>T (n.*1881G>T)
c.1984G>T (p.Gly662Cys)
c.*467G>T (n.*467G>T)
c.*1991G>T (n.*1991G>T)
c.1741G>T (p.Gly581Cys)
c.1402-10492G>T (n.1402-10492G>T)
c.2077G>T (p.Gly693Cys)
c.2257G>T (p.Gly753Cys)
c.1924G>T (p.Gly642Cys)
7g.117592335G>ACA368980187CFTRc.2168G>A (p.Gly723Asp)
c.*1882G>A (n.*1882G>A)
c.1985G>A (p.Gly662Asp)
c.*468G>A (n.*468G>A)
c.*1992G>A (n.*1992G>A)
c.1742G>A (p.Gly581Asp)
c.1402-10491G>A (n.1402-10491G>A)
c.2078G>A (p.Gly693Asp)
c.2258G>A (p.Gly753Asp)
c.1925G>A (p.Gly642Asp)
7g.117592335G>CCA368980190CFTRc.2168G>C (p.Gly723Ala)
c.*1882G>C (n.*1882G>C)
c.1985G>C (p.Gly662Ala)
c.*468G>C (n.*468G>C)
c.*1992G>C (n.*1992G>C)
c.1742G>C (p.Gly581Ala)
c.1402-10491G>C (n.1402-10491G>C)
c.2078G>C (p.Gly693Ala)
c.2258G>C (p.Gly753Ala)
c.1925G>C (p.Gly642Ala)
7g.117592335G=CA1737394927CFTRc.2168G= (p.Gly723=)
c.*1882G= (n.*1882G=)
c.1985G= (p.Gly662=)
c.*468G= (n.*468G=)
c.*1992G= (n.*1992G=)
c.1742G= (p.Gly581=)
c.1402-10491G= (n.1402-10491G=)
c.2078G= (p.Gly693=)
c.2258G= (p.Gly753=)
c.1925G= (p.Gly642=)
7g.117592335G>TCA326760CFTRc.2168G>T (p.Gly723Val)
c.*1882G>T (n.*1882G>T)
c.1985G>T (p.Gly662Val)
c.*468G>T (n.*468G>T)
c.*1992G>T (n.*1992G>T)
c.1742G>T (p.Gly581Val)
c.1402-10491G>T (n.1402-10491G>T)
c.2078G>T (p.Gly693Val)
c.2258G>T (p.Gly753Val)
c.1925G>T (p.Gly642Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117592336C>ACA457449393CFTRc.2169C>A (p.Gly723=)
c.*1883C>A (n.*1883C>A)
c.1986C>A (p.Gly662=)
c.*469C>A (n.*469C>A)
c.*1993C>A (n.*1993C>A)
c.1743C>A (p.Gly581=)
c.1402-10490C>A (n.1402-10490C>A)
c.2079C>A (p.Gly693=)
c.2259C>A (p.Gly753=)
c.1926C>A (p.Gly642=)
7g.117592336C>GCA457449394CFTRc.2169C>G (p.Gly723=)
c.*1883C>G (n.*1883C>G)
c.1986C>G (p.Gly662=)
c.*469C>G (n.*469C>G)
c.*1993C>G (n.*1993C>G)
c.1743C>G (p.Gly581=)
c.1402-10490C>G (n.1402-10490C>G)
c.2079C>G (p.Gly693=)
c.2259C>G (p.Gly753=)
c.1926C>G (p.Gly642=)
7g.117592336C>TCA457449392CFTRc.2169C>T (p.Gly723=)
c.*1883C>T (n.*1883C>T)
c.1986C>T (p.Gly662=)
c.*469C>T (n.*469C>T)
c.*1993C>T (n.*1993C>T)
c.1743C>T (p.Gly581=)
c.1402-10490C>T (n.1402-10490C>T)
c.2079C>T (p.Gly693=)
c.2259C>T (p.Gly753=)
c.1926C>T (p.Gly642=)
 gnomAD v4
7g.117592337A>CCA368980192CFTRc.2170A>C (p.Ile724Leu)
c.*1884A>C (n.*1884A>C)
c.1987A>C (p.Ile663Leu)
c.*470A>C (n.*470A>C)
c.*1994A>C (n.*1994A>C)
c.1744A>C (p.Ile582Leu)
c.1402-10489A>C (n.1402-10489A>C)
c.2080A>C (p.Ile694Leu)
c.2260A>C (p.Ile754Leu)
c.1927A>C (p.Ile643Leu)
 ClinVar gnomAD v4
7g.117592337A>GCA368980196CFTRc.2170A>G (p.Ile724Val)
c.*1884A>G (n.*1884A>G)
c.1987A>G (p.Ile663Val)
c.*470A>G (n.*470A>G)
c.*1994A>G (n.*1994A>G)
c.1744A>G (p.Ile582Val)
c.1402-10489A>G (n.1402-10489A>G)
c.2080A>G (p.Ile694Val)
c.2260A>G (p.Ile754Val)
c.1927A>G (p.Ile643Val)
7g.117592337A>TCA368980194CFTRc.2170A>T (p.Ile724Phe)
c.*1884A>T (n.*1884A>T)
c.1987A>T (p.Ile663Phe)
c.*470A>T (n.*470A>T)
c.*1994A>T (n.*1994A>T)
c.1744A>T (p.Ile582Phe)
c.1402-10489A>T (n.1402-10489A>T)
c.2080A>T (p.Ile694Phe)
c.2260A>T (p.Ile754Phe)
c.1927A>T (p.Ile643Phe)
7g.117592338_117592341delCA2715457499CFTRc.2171_2174del (p.Ile724LysfsTer8)
c.*1885_*1888del (n.*1885_*1888del)
c.1988_1991del (p.Ile663LysfsTer8)
c.*471_*474del (n.*471_*474del)
c.*1995_*1998del (n.*1995_*1998del)
c.1745_1748del (p.Ile582LysfsTer8)
c.1402-10488_1402-10485del (n.1402-10488_1402-10485del)
c.2081_2084del (p.Ile694LysfsTer8)
c.2261_2264del (p.Ile754LysfsTer8)
c.1928_1931del (p.Ile643LysfsTer8)
 dbSNP
7g.117592338T>ACA368980200CFTRc.2171T>A (p.Ile724Asn)
c.*1885T>A (n.*1885T>A)
c.1988T>A (p.Ile663Asn)
c.*471T>A (n.*471T>A)
c.*1995T>A (n.*1995T>A)
c.1745T>A (p.Ile582Asn)
c.1402-10488T>A (n.1402-10488T>A)
c.2081T>A (p.Ile694Asn)
c.2261T>A (p.Ile754Asn)
c.1928T>A (p.Ile643Asn)
7g.117592338T>CCA368980206CFTRc.2171T>C (p.Ile724Thr)
c.*1885T>C (n.*1885T>C)
c.1988T>C (p.Ile663Thr)
c.*471T>C (n.*471T>C)
c.*1995T>C (n.*1995T>C)
c.1745T>C (p.Ile582Thr)
c.1402-10488T>C (n.1402-10488T>C)
c.2081T>C (p.Ile694Thr)
c.2261T>C (p.Ile754Thr)
c.1928T>C (p.Ile643Thr)
 ClinVar gnomAD v4
7g.117592338T>GCA368980205CFTRc.2171T>G (p.Ile724Ser)
c.*1885T>G (n.*1885T>G)
c.1988T>G (p.Ile663Ser)
c.*471T>G (n.*471T>G)
c.*1995T>G (n.*1995T>G)
c.1745T>G (p.Ile582Ser)
c.1402-10488T>G (n.1402-10488T>G)
c.2081T>G (p.Ile694Ser)
c.2261T>G (p.Ile754Ser)
c.1928T>G (p.Ile643Ser)
7g.117592339C>ACA457449395CFTRc.2172C>A (p.Ile724=)
c.*1886C>A (n.*1886C>A)
c.1989C>A (p.Ile663=)
c.*472C>A (n.*472C>A)
c.*1996C>A (n.*1996C>A)
c.1746C>A (p.Ile582=)
c.1402-10487C>A (n.1402-10487C>A)
c.2082C>A (p.Ile694=)
c.2262C>A (p.Ile754=)
c.1929C>A (p.Ile643=)
 ClinVar dbSNP
7g.117592339C=CA1737394931CFTRc.2172C= (p.Ile724=)
c.*1886C= (n.*1886C=)
c.1989C= (p.Ile663=)
c.*472C= (n.*472C=)
c.*1996C= (n.*1996C=)
c.1746C= (p.Ile582=)
c.1402-10487C= (n.1402-10487C=)
c.2082C= (p.Ile694=)
c.2262C= (p.Ile754=)
c.1929C= (p.Ile643=)
7g.117592339C>GCA368980207CFTRc.2172C>G (p.Ile724Met)
c.*1886C>G (n.*1886C>G)
c.1989C>G (p.Ile663Met)
c.*472C>G (n.*472C>G)
c.*1996C>G (n.*1996C>G)
c.1746C>G (p.Ile582Met)
c.1402-10487C>G (n.1402-10487C>G)
c.2082C>G (p.Ile694Met)
c.2262C>G (p.Ile754Met)
c.1929C>G (p.Ile643Met)
 dbSNP
7g.117592339C>TCA164947935CFTRc.2172C>T (p.Ile724=)
c.*1886C>T (n.*1886C>T)
c.1989C>T (p.Ile663=)
c.*472C>T (n.*472C>T)
c.*1996C>T (n.*1996C>T)
c.1746C>T (p.Ile582=)
c.1402-10487C>T (n.1402-10487C>T)
c.2082C>T (p.Ile694=)
c.2262C>T (p.Ile754=)
c.1929C>T (p.Ile643=)
 ClinVar dbSNP gnomAD v4 COSMIC
7g.117592340G>ACA326762CFTRc.2173G>A (p.Glu725Lys)
c.*1887G>A (n.*1887G>A)
c.1990G>A (p.Glu664Lys)
c.*473G>A (n.*473G>A)
c.*1997G>A (n.*1997G>A)
c.1747G>A (p.Glu583Lys)
c.1402-10486G>A (n.1402-10486G>A)
c.2083G>A (p.Glu695Lys)
c.2263G>A (p.Glu755Lys)
c.1930G>A (p.Glu644Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
7g.117592340G>CCA368980212CFTRc.2173G>C (p.Glu725Gln)
c.*1887G>C (n.*1887G>C)
c.1990G>C (p.Glu664Gln)
c.*473G>C (n.*473G>C)
c.*1997G>C (n.*1997G>C)
c.1747G>C (p.Glu583Gln)
c.1402-10486G>C (n.1402-10486G>C)
c.2083G>C (p.Glu695Gln)
c.2263G>C (p.Glu755Gln)
c.1930G>C (p.Glu644Gln)
 gnomAD v4
7g.117592340G=CA1737394938CFTRc.2173G= (p.Glu725=)
c.*1887G= (n.*1887G=)
c.1990G= (p.Glu664=)
c.*473G= (n.*473G=)
c.*1997G= (n.*1997G=)
c.1747G= (p.Glu583=)
c.1402-10486G= (n.1402-10486G=)
c.2083G= (p.Glu695=)
c.2263G= (p.Glu755=)
c.1930G= (p.Glu644=)
7g.117592340G>TCA368980215CFTRc.2173G>T (p.Glu725Ter)
c.*1887G>T (n.*1887G>T)
c.1990G>T (p.Glu664Ter)
c.*473G>T (n.*473G>T)
c.*1997G>T (n.*1997G>T)
c.1747G>T (p.Glu583Ter)
c.1402-10486G>T (n.1402-10486G>T)
c.2083G>T (p.Glu695Ter)
c.2263G>T (p.Glu755Ter)
c.1930G>T (p.Glu644Ter)
7g.117592341A=CA1737394946CFTRc.2174A= (p.Glu725=)
c.*1888A= (n.*1888A=)
c.1991A= (p.Glu664=)
c.*474A= (n.*474A=)
c.*1998A= (n.*1998A=)
c.1748A= (p.Glu583=)
c.1402-10485A= (n.1402-10485A=)
c.2084A= (p.Glu695=)
c.2264A= (p.Glu755=)
c.1931A= (p.Glu644=)
7g.117592341A>CCA368980221CFTRc.2174A>C (p.Glu725Ala)
c.*1888A>C (n.*1888A>C)
c.1991A>C (p.Glu664Ala)
c.*474A>C (n.*474A>C)
c.*1998A>C (n.*1998A>C)
c.1748A>C (p.Glu583Ala)
c.1402-10485A>C (n.1402-10485A>C)
c.2084A>C (p.Glu695Ala)
c.2264A>C (p.Glu755Ala)
c.1931A>C (p.Glu644Ala)
7g.117592341A>GCA368980222CFTRc.2174A>G (p.Glu725Gly)
c.*1888A>G (n.*1888A>G)
c.1991A>G (p.Glu664Gly)
c.*474A>G (n.*474A>G)
c.*1998A>G (n.*1998A>G)
c.1748A>G (p.Glu583Gly)
c.1402-10485A>G (n.1402-10485A>G)
c.2084A>G (p.Glu695Gly)
c.2264A>G (p.Glu755Gly)
c.1931A>G (p.Glu644Gly)
 dbSNP gnomAD v3 gnomAD v4
7g.117592341A>TCA368980223CFTRc.2174A>T (p.Glu725Val)
c.*1888A>T (n.*1888A>T)
c.1991A>T (p.Glu664Val)
c.*474A>T (n.*474A>T)
c.*1998A>T (n.*1998A>T)
c.1748A>T (p.Glu583Val)
c.1402-10485A>T (n.1402-10485A>T)
c.2084A>T (p.Glu695Val)
c.2264A>T (p.Glu755Val)
c.1931A>T (p.Glu644Val)
 gnomAD v4
7g.117592342dupCA325575CFTRc.2175dup (p.Glu726ArgfsTer4)
c.*1889dup (n.*1889dup)
c.1992dup (p.Glu665ArgfsTer4)
c.*475dup (n.*475dup)
c.*1999dup (n.*1999dup)
c.1749dup (p.Glu584ArgfsTer4)
c.1402-10484dup (n.1402-10484dup)
c.2085dup (p.Glu696ArgfsTer4)
c.2265dup (p.Glu756ArgfsTer4)
c.1932dup (p.Glu645ArgfsTer4)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117592342A>CCA368980225CFTRc.2175A>C (p.Glu725Asp)
c.*1889A>C (n.*1889A>C)
c.1992A>C (p.Glu664Asp)
c.*475A>C (n.*475A>C)
c.*1999A>C (n.*1999A>C)
c.1749A>C (p.Glu583Asp)
c.1402-10484A>C (n.1402-10484A>C)
c.2085A>C (p.Glu695Asp)
c.2265A>C (p.Glu755Asp)
c.1932A>C (p.Glu644Asp)
7g.117592342A>GCA457449396CFTRc.2175A>G (p.Glu725=)
c.*1889A>G (n.*1889A>G)
c.1992A>G (p.Glu664=)
c.*475A>G (n.*475A>G)
c.*1999A>G (n.*1999A>G)
c.1749A>G (p.Glu583=)
c.1402-10484A>G (n.1402-10484A>G)
c.2085A>G (p.Glu695=)
c.2265A>G (p.Glu755=)
c.1932A>G (p.Glu644=)
7g.117592342A>TCA368980227CFTRc.2175A>T (p.Glu725Asp)
c.*1889A>T (n.*1889A>T)
c.1992A>T (p.Glu664Asp)
c.*475A>T (n.*475A>T)
c.*1999A>T (n.*1999A>T)
c.1749A>T (p.Glu583Asp)
c.1402-10484A>T (n.1402-10484A>T)
c.2085A>T (p.Glu695Asp)
c.2265A>T (p.Glu755Asp)
c.1932A>T (p.Glu644Asp)
7g.117592343G>ACA368980236CFTRc.2176G>A (p.Glu726Lys)
c.*1890G>A (n.*1890G>A)
c.1993G>A (p.Glu665Lys)
c.*476G>A (n.*476G>A)
c.*2000G>A (n.*2000G>A)
c.1750G>A (p.Glu584Lys)
c.1402-10483G>A (n.1402-10483G>A)
c.2086G>A (p.Glu696Lys)
c.2266G>A (p.Glu756Lys)
c.1933G>A (p.Glu645Lys)
7g.117592343G>CCA368980234CFTRc.2176G>C (p.Glu726Gln)
c.*1890G>C (n.*1890G>C)
c.1993G>C (p.Glu665Gln)
c.*476G>C (n.*476G>C)
c.*2000G>C (n.*2000G>C)
c.1750G>C (p.Glu584Gln)
c.1402-10483G>C (n.1402-10483G>C)
c.2086G>C (p.Glu696Gln)
c.2266G>C (p.Glu756Gln)
c.1933G>C (p.Glu645Gln)
7g.117592343G>TCA368980232CFTRc.2176G>T (p.Glu726Ter)
c.*1890G>T (n.*1890G>T)
c.1993G>T (p.Glu665Ter)
c.*476G>T (n.*476G>T)
c.*2000G>T (n.*2000G>T)
c.1750G>T (p.Glu584Ter)
c.1402-10483G>T (n.1402-10483G>T)
c.2086G>T (p.Glu696Ter)
c.2266G>T (p.Glu756Ter)
c.1933G>T (p.Glu645Ter)
7g.117592344A>CCA368980242CFTRc.2177A>C (p.Glu726Ala)
c.*1891A>C (n.*1891A>C)
c.1994A>C (p.Glu665Ala)
c.*477A>C (n.*477A>C)
c.*2001A>C (n.*2001A>C)
c.1751A>C (p.Glu584Ala)
c.1402-10482A>C (n.1402-10482A>C)
c.2087A>C (p.Glu696Ala)
c.2267A>C (p.Glu756Ala)
c.1934A>C (p.Glu645Ala)
7g.117592344A>GCA368980245CFTRc.2177A>G (p.Glu726Gly)
c.*1891A>G (n.*1891A>G)
c.1994A>G (p.Glu665Gly)
c.*477A>G (n.*477A>G)
c.*2001A>G (n.*2001A>G)
c.1751A>G (p.Glu584Gly)
c.1402-10482A>G (n.1402-10482A>G)
c.2087A>G (p.Glu696Gly)
c.2267A>G (p.Glu756Gly)
c.1934A>G (p.Glu645Gly)
7g.117592344A>TCA368980249CFTRc.2177A>T (p.Glu726Val)
c.*1891A>T (n.*1891A>T)
c.1994A>T (p.Glu665Val)
c.*477A>T (n.*477A>T)
c.*2001A>T (n.*2001A>T)
c.1751A>T (p.Glu584Val)
c.1402-10482A>T (n.1402-10482A>T)
c.2087A>T (p.Glu696Val)
c.2267A>T (p.Glu756Val)
c.1934A>T (p.Glu645Val)
7g.117592344dupCA368980239CFTRc.2177dup (p.Asp727GlyfsTer3)
c.*1891dup (n.*1891dup)
c.1994dup (p.Asp666GlyfsTer3)
c.*477dup (n.*477dup)
c.*2001dup (n.*2001dup)
c.1751dup (p.Asp585GlyfsTer3)
c.1402-10482dup (n.1402-10482dup)
c.2087dup (p.Asp697GlyfsTer3)
c.2267dup (p.Asp757GlyfsTer3)
c.1934dup (p.Asp646GlyfsTer3)
7g.117592345G>ACA457449397CFTRc.2178G>A (p.Glu726=)
c.*1892G>A (n.*1892G>A)
c.1995G>A (p.Glu665=)
c.*478G>A (n.*478G>A)
c.*2002G>A (n.*2002G>A)
c.1752G>A (p.Glu584=)
c.1402-10481G>A (n.1402-10481G>A)
c.2088G>A (p.Glu696=)
c.2268G>A (p.Glu756=)
c.1935G>A (p.Glu645=)
 ClinVar
7g.117592345G>CCA368980252CFTRc.2178G>C (p.Glu726Asp)
c.*1892G>C (n.*1892G>C)
c.1995G>C (p.Glu665Asp)
c.*478G>C (n.*478G>C)
c.*2002G>C (n.*2002G>C)
c.1752G>C (p.Glu584Asp)
c.1402-10481G>C (n.1402-10481G>C)
c.2088G>C (p.Glu696Asp)
c.2268G>C (p.Glu756Asp)
c.1935G>C (p.Glu645Asp)
 gnomAD v4
7g.117592345G>TCA368980254CFTRc.2178G>T (p.Glu726Asp)
c.*1892G>T (n.*1892G>T)
c.1995G>T (p.Glu665Asp)
c.*478G>T (n.*478G>T)
c.*2002G>T (n.*2002G>T)
c.1752G>T (p.Glu584Asp)
c.1402-10481G>T (n.1402-10481G>T)
c.2088G>T (p.Glu696Asp)
c.2268G>T (p.Glu756Asp)
c.1935G>T (p.Glu645Asp)
7g.117592346G>ACA368980258CFTRc.2179G>A (p.Asp727Asn)
c.*1893G>A (n.*1893G>A)
c.1996G>A (p.Asp666Asn)
c.*479G>A (n.*479G>A)
c.*2003G>A (n.*2003G>A)
c.1753G>A (p.Asp585Asn)
c.1402-10480G>A (n.1402-10480G>A)
c.2089G>A (p.Asp697Asn)
c.2269G>A (p.Asp757Asn)
c.1936G>A (p.Asp646Asn)
7g.117592346G>CCA368980263CFTRc.2179G>C (p.Asp727His)
c.*1893G>C (n.*1893G>C)
c.1996G>C (p.Asp666His)
c.*479G>C (n.*479G>C)
c.*2003G>C (n.*2003G>C)
c.1753G>C (p.Asp585His)
c.1402-10480G>C (n.1402-10480G>C)
c.2089G>C (p.Asp697His)
c.2269G>C (p.Asp757His)
c.1936G>C (p.Asp646His)
7g.117592346G=CA1737394952CFTRc.2179G= (p.Asp727=)
c.*1893G= (n.*1893G=)
c.1996G= (p.Asp666=)
c.*479G= (n.*479G=)
c.*2003G= (n.*2003G=)
c.1753G= (p.Asp585=)
c.1402-10480G= (n.1402-10480G=)
c.2089G= (p.Asp697=)
c.2269G= (p.Asp757=)
c.1936G= (p.Asp646=)
7g.117592346G>TCA368980267CFTRc.2179G>T (p.Asp727Tyr)
c.*1893G>T (n.*1893G>T)
c.1996G>T (p.Asp666Tyr)
c.*479G>T (n.*479G>T)
c.*2003G>T (n.*2003G>T)
c.1753G>T (p.Asp585Tyr)
c.1402-10480G>T (n.1402-10480G>T)
c.2089G>T (p.Asp697Tyr)
c.2269G>T (p.Asp757Tyr)
c.1936G>T (p.Asp646Tyr)
 ClinVar dbSNP gnomAD v4
7g.117592347A=CA1737394956CFTRc.2180A= (p.Asp727=)
c.*1894A= (n.*1894A=)
c.1997A= (p.Asp666=)
c.*480A= (n.*480A=)
c.*2004A= (n.*2004A=)
c.1754A= (p.Asp585=)
c.1402-10479A= (n.1402-10479A=)
c.2090A= (p.Asp697=)
c.2270A= (p.Asp757=)
c.1937A= (p.Asp646=)
7g.117592347A>CCA368980272CFTRc.2180A>C (p.Asp727Ala)
c.*1894A>C (n.*1894A>C)
c.1997A>C (p.Asp666Ala)
c.*480A>C (n.*480A>C)
c.*2004A>C (n.*2004A>C)
c.1754A>C (p.Asp585Ala)
c.1402-10479A>C (n.1402-10479A>C)
c.2090A>C (p.Asp697Ala)
c.2270A>C (p.Asp757Ala)
c.1937A>C (p.Asp646Ala)
 dbSNP gnomAD v2 gnomAD v4
7g.117592347A>GCA368980274CFTRc.2180A>G (p.Asp727Gly)
c.*1894A>G (n.*1894A>G)
c.1997A>G (p.Asp666Gly)
c.*480A>G (n.*480A>G)
c.*2004A>G (n.*2004A>G)
c.1754A>G (p.Asp585Gly)
c.1402-10479A>G (n.1402-10479A>G)
c.2090A>G (p.Asp697Gly)
c.2270A>G (p.Asp757Gly)
c.1937A>G (p.Asp646Gly)
7g.117592347A>TCA368980276CFTRc.2180A>T (p.Asp727Val)
c.*1894A>T (n.*1894A>T)
c.1997A>T (p.Asp666Val)
c.*480A>T (n.*480A>T)
c.*2004A>T (n.*2004A>T)
c.1754A>T (p.Asp585Val)
c.1402-10479A>T (n.1402-10479A>T)
c.2090A>T (p.Asp697Val)
c.2270A>T (p.Asp757Val)
c.1937A>T (p.Asp646Val)
7g.117592348T>ACA368980279CFTRc.2181T>A (p.Asp727Glu)
c.*1895T>A (n.*1895T>A)
c.1998T>A (p.Asp666Glu)
c.*481T>A (n.*481T>A)
c.*2005T>A (n.*2005T>A)
c.1755T>A (p.Asp585Glu)
c.1402-10478T>A (n.1402-10478T>A)
c.2091T>A (p.Asp697Glu)
c.2271T>A (p.Asp757Glu)
c.1938T>A (p.Asp646Glu)
7g.117592348T>CCA457449398CFTRc.2181T>C (p.Asp727=)
c.*1895T>C (n.*1895T>C)
c.1998T>C (p.Asp666=)
c.*481T>C (n.*481T>C)
c.*2005T>C (n.*2005T>C)
c.1755T>C (p.Asp585=)
c.1402-10478T>C (n.1402-10478T>C)
c.2091T>C (p.Asp697=)
c.2271T>C (p.Asp757=)
c.1938T>C (p.Asp646=)
 ClinVar dbSNP gnomAD v4
7g.117592348T>GCA368980282CFTRc.2181T>G (p.Asp727Glu)
c.*1895T>G (n.*1895T>G)
c.1998T>G (p.Asp666Glu)
c.*481T>G (n.*481T>G)
c.*2005T>G (n.*2005T>G)
c.1755T>G (p.Asp585Glu)
c.1402-10478T>G (n.1402-10478T>G)
c.2091T>G (p.Asp697Glu)
c.2271T>G (p.Asp757Glu)
c.1938T>G (p.Asp646Glu)
7g.117592348T=CA1737394958CFTRc.2181T= (p.Asp727=)
c.*1895T= (n.*1895T=)
c.1998T= (p.Asp666=)
c.*481T= (n.*481T=)
c.*2005T= (n.*2005T=)
c.1755T= (p.Asp585=)
c.1402-10478T= (n.1402-10478T=)
c.2091T= (p.Asp697=)
c.2271T= (p.Asp757=)
c.1938T= (p.Asp646=)
7g.117592349T>ACA368980285CFTRc.2182T>A (p.Ser728Thr)
c.*1896T>A (n.*1896T>A)
c.1999T>A (p.Ser667Thr)
c.*482T>A (n.*482T>A)
c.*2006T>A (n.*2006T>A)
c.1756T>A (p.Ser586Thr)
c.1402-10477T>A (n.1402-10477T>A)
c.2092T>A (p.Ser698Thr)
c.2272T>A (p.Ser758Thr)
c.1939T>A (p.Ser647Thr)
7g.117592349T>CCA368980289CFTRc.2182T>C (p.Ser728Pro)
c.*1896T>C (n.*1896T>C)
c.1999T>C (p.Ser667Pro)
c.*482T>C (n.*482T>C)
c.*2006T>C (n.*2006T>C)
c.1756T>C (p.Ser586Pro)
c.1402-10477T>C (n.1402-10477T>C)
c.2092T>C (p.Ser698Pro)
c.2272T>C (p.Ser758Pro)
c.1939T>C (p.Ser647Pro)
 gnomAD v4
7g.117592349T>GCA368980292CFTRc.2182T>G (p.Ser728Ala)
c.*1896T>G (n.*1896T>G)
c.1999T>G (p.Ser667Ala)
c.*482T>G (n.*482T>G)
c.*2006T>G (n.*2006T>G)
c.1756T>G (p.Ser586Ala)
c.1402-10477T>G (n.1402-10477T>G)
c.2092T>G (p.Ser698Ala)
c.2272T>G (p.Ser758Ala)
c.1939T>G (p.Ser647Ala)
 gnomAD v4
7g.117592350C>ACA368980301CFTRc.2183C>A (p.Ser728Tyr)
c.*1897C>A (n.*1897C>A)
c.2000C>A (p.Ser667Tyr)
c.*483C>A (n.*483C>A)
c.*2007C>A (n.*2007C>A)
c.1757C>A (p.Ser586Tyr)
c.1402-10476C>A (n.1402-10476C>A)
c.2093C>A (p.Ser698Tyr)
c.2273C>A (p.Ser758Tyr)
c.1940C>A (p.Ser647Tyr)
7g.117592350C=CA1737394962CFTRc.2183C= (p.Ser728=)
c.*1897C= (n.*1897C=)
c.2000C= (p.Ser667=)
c.*483C= (n.*483C=)
c.*2007C= (n.*2007C=)
c.1757C= (p.Ser586=)
c.1402-10476C= (n.1402-10476C=)
c.2093C= (p.Ser698=)
c.2273C= (p.Ser758=)
c.1940C= (p.Ser647=)
7g.117592350C>GCA368980303CFTRc.2183C>G (p.Ser728Cys)
c.*1897C>G (n.*1897C>G)
c.2000C>G (p.Ser667Cys)
c.*483C>G (n.*483C>G)
c.*2007C>G (n.*2007C>G)
c.1757C>G (p.Ser586Cys)
c.1402-10476C>G (n.1402-10476C>G)
c.2093C>G (p.Ser698Cys)
c.2273C>G (p.Ser758Cys)
c.1940C>G (p.Ser647Cys)
7g.117592350C>TCA368980306CFTRc.2183C>T (p.Ser728Phe)
c.*1897C>T (n.*1897C>T)
c.2000C>T (p.Ser667Phe)
c.*483C>T (n.*483C>T)
c.*2007C>T (n.*2007C>T)
c.1757C>T (p.Ser586Phe)
c.1402-10476C>T (n.1402-10476C>T)
c.2093C>T (p.Ser698Phe)
c.2273C>T (p.Ser758Phe)
c.1940C>T (p.Ser647Phe)
 ClinVar dbSNP
7g.117592351T>ACA457449399CFTRc.2184T>A (p.Ser728=)
c.*1898T>A (n.*1898T>A)
c.2001T>A (p.Ser667=)
c.*484T>A (n.*484T>A)
c.*2008T>A (n.*2008T>A)
c.1758T>A (p.Ser586=)
c.1402-10475T>A (n.1402-10475T>A)
c.2094T>A (p.Ser698=)
c.2274T>A (p.Ser758=)
c.1941T>A (p.Ser647=)
7g.117592351T>CCA457449400CFTRc.2184T>C (p.Ser728=)
c.*1898T>C (n.*1898T>C)
c.2001T>C (p.Ser667=)
c.*484T>C (n.*484T>C)
c.*2008T>C (n.*2008T>C)
c.1758T>C (p.Ser586=)
c.1402-10475T>C (n.1402-10475T>C)
c.2094T>C (p.Ser698=)
c.2274T>C (p.Ser758=)
c.1941T>C (p.Ser647=)
7g.117592351T>GCA4451151CFTRc.2184T>G (p.Ser728=)
c.*1898T>G (n.*1898T>G)
c.2001T>G (p.Ser667=)
c.*484T>G (n.*484T>G)
c.*2008T>G (n.*2008T>G)
c.1758T>G (p.Ser586=)
c.1402-10475T>G (n.1402-10475T>G)
c.2094T>G (p.Ser698=)
c.2274T>G (p.Ser758=)
c.1941T>G (p.Ser647=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117592351T=CA1737394967CFTRc.2184T= (p.Ser728=)
c.*1898T= (n.*1898T=)
c.2001T= (p.Ser667=)
c.*484T= (n.*484T=)
c.*2008T= (n.*2008T=)
c.1758T= (p.Ser586=)
c.1402-10475T= (n.1402-10475T=)
c.2094T= (p.Ser698=)
c.2274T= (p.Ser758=)
c.1941T= (p.Ser647=)
7g.117592351_117592352insACA645509178CFTRc.2184_2185insA (p.Asp729ArgfsTer2)
c.*1898_*1899insA (n.*1898_*1899insA)
c.2001_2002insA (p.Asp668ArgfsTer2)
c.*484_*485insA (n.*484_*485insA)
c.*2008_*2009insA (n.*2008_*2009insA)
c.1758_1759insA (p.Asp587ArgfsTer2)
c.1402-10475_1402-10474insA (n.1402-10475_1402-10474insA)
c.2094_2095insA (p.Asp699ArgfsTer2)
c.2274_2275insA (p.Asp759ArgfsTer2)
c.1941_1942insA (p.Asp648ArgfsTer2)
 ClinVar dbSNP
7g.117592352G>ACA368980313CFTRc.2185G>A (p.Asp729Asn)
c.*1899G>A (n.*1899G>A)
c.2002G>A (p.Asp668Asn)
c.*485G>A (n.*485G>A)
c.*2009G>A (n.*2009G>A)
c.1759G>A (p.Asp587Asn)
c.1402-10474G>A (n.1402-10474G>A)
c.2095G>A (p.Asp699Asn)
c.2275G>A (p.Asp759Asn)
c.1942G>A (p.Asp648Asn)
7g.117592352G>CCA368980315CFTRc.2185G>C (p.Asp729His)
c.*1899G>C (n.*1899G>C)
c.2002G>C (p.Asp668His)
c.*485G>C (n.*485G>C)
c.*2009G>C (n.*2009G>C)
c.1759G>C (p.Asp587His)
c.1402-10474G>C (n.1402-10474G>C)
c.2095G>C (p.Asp699His)
c.2275G>C (p.Asp759His)
c.1942G>C (p.Asp648His)
 ClinVar
7g.117592352G>TCA368980318CFTRc.2185G>T (p.Asp729Tyr)
c.*1899G>T (n.*1899G>T)
c.2002G>T (p.Asp668Tyr)
c.*485G>T (n.*485G>T)
c.*2009G>T (n.*2009G>T)
c.1759G>T (p.Asp587Tyr)
c.1402-10474G>T (n.1402-10474G>T)
c.2095G>T (p.Asp699Tyr)
c.2275G>T (p.Asp759Tyr)
c.1942G>T (p.Asp648Tyr)
7g.117592353A>CCA368980320CFTRc.2186A>C (p.Asp729Ala)
c.*1900A>C (n.*1900A>C)
c.2003A>C (p.Asp668Ala)
c.*486A>C (n.*486A>C)
c.*2010A>C (n.*2010A>C)
c.1760A>C (p.Asp587Ala)
c.1402-10473A>C (n.1402-10473A>C)
c.2096A>C (p.Asp699Ala)
c.2276A>C (p.Asp759Ala)
c.1943A>C (p.Asp648Ala)
 ClinVar
7g.117592353A>GCA368980321CFTRc.2186A>G (p.Asp729Gly)
c.*1900A>G (n.*1900A>G)
c.2003A>G (p.Asp668Gly)
c.*486A>G (n.*486A>G)
c.*2010A>G (n.*2010A>G)
c.1760A>G (p.Asp587Gly)
c.1402-10473A>G (n.1402-10473A>G)
c.2096A>G (p.Asp699Gly)
c.2276A>G (p.Asp759Gly)
c.1943A>G (p.Asp648Gly)
7g.117592353A>TCA368980324CFTRc.2186A>T (p.Asp729Val)
c.*1900A>T (n.*1900A>T)
c.2003A>T (p.Asp668Val)
c.*486A>T (n.*486A>T)
c.*2010A>T (n.*2010A>T)
c.1760A>T (p.Asp587Val)
c.1402-10473A>T (n.1402-10473A>T)
c.2096A>T (p.Asp699Val)
c.2276A>T (p.Asp759Val)
c.1943A>T (p.Asp648Val)
7g.117592354T>ACA368980325CFTRc.2187T>A (p.Asp729Glu)
c.*1901T>A (n.*1901T>A)
c.2004T>A (p.Asp668Glu)
c.*487T>A (n.*487T>A)
c.*2011T>A (n.*2011T>A)
c.1761T>A (p.Asp587Glu)
c.1402-10472T>A (n.1402-10472T>A)
c.2097T>A (p.Asp699Glu)
c.2277T>A (p.Asp759Glu)
c.1944T>A (p.Asp648Glu)
7g.117592354T>CCA457449404CFTRc.2187T>C (p.Asp729=)
c.*1901T>C (n.*1901T>C)
c.2004T>C (p.Asp668=)
c.*487T>C (n.*487T>C)
c.*2011T>C (n.*2011T>C)
c.1761T>C (p.Asp587=)
c.1402-10472T>C (n.1402-10472T>C)
c.2097T>C (p.Asp699=)
c.2277T>C (p.Asp759=)
c.1944T>C (p.Asp648=)
 ClinVar
7g.117592354T>GCA368980327CFTRc.2187T>G (p.Asp729Glu)
c.*1901T>G (n.*1901T>G)
c.2004T>G (p.Asp668Glu)
c.*487T>G (n.*487T>G)
c.*2011T>G (n.*2011T>G)
c.1761T>G (p.Asp587Glu)
c.1402-10472T>G (n.1402-10472T>G)
c.2097T>G (p.Asp699Glu)
c.2277T>G (p.Asp759Glu)
c.1944T>G (p.Asp648Glu)
7g.117592355G>ACA368980329CFTRc.2188G>A (p.Glu730Lys)
c.*1902G>A (n.*1902G>A)
c.2005G>A (p.Glu669Lys)
c.*488G>A (n.*488G>A)
c.*2012G>A (n.*2012G>A)
c.1762G>A (p.Glu588Lys)
c.1402-10471G>A (n.1402-10471G>A)
c.2098G>A (p.Glu700Lys)
c.2278G>A (p.Glu760Lys)
c.1945G>A (p.Glu649Lys)
 ClinVar
7g.117592355G>CCA368980331CFTRc.2188G>C (p.Glu730Gln)
c.*1902G>C (n.*1902G>C)
c.2005G>C (p.Glu669Gln)
c.*488G>C (n.*488G>C)
c.*2012G>C (n.*2012G>C)
c.1762G>C (p.Glu588Gln)
c.1402-10471G>C (n.1402-10471G>C)
c.2098G>C (p.Glu700Gln)
c.2278G>C (p.Glu760Gln)
c.1945G>C (p.Glu649Gln)
7g.117592355G=CA1737394976CFTRc.2188G= (p.Glu730=)
c.*1902G= (n.*1902G=)
c.2005G= (p.Glu669=)
c.*488G= (n.*488G=)
c.*2012G= (n.*2012G=)
c.1762G= (p.Glu588=)
c.1402-10471G= (n.1402-10471G=)
c.2098G= (p.Glu700=)
c.2278G= (p.Glu760=)
c.1945G= (p.Glu649=)
7g.117592355G>TCA326765CFTRc.2188G>T (p.Glu730Ter)
c.*1902G>T (n.*1902G>T)
c.2005G>T (p.Glu669Ter)
c.*488G>T (n.*488G>T)
c.*2012G>T (n.*2012G>T)
c.1762G>T (p.Glu588Ter)
c.1402-10471G>T (n.1402-10471G>T)
c.2098G>T (p.Glu700Ter)
c.2278G>T (p.Glu760Ter)
c.1945G>T (p.Glu649Ter)
 ClinVar dbSNP gnomAD v4
7g.117592356A>CCA368980334CFTRc.2189A>C (p.Glu730Ala)
c.*1903A>C (n.*1903A>C)
c.2006A>C (p.Glu669Ala)
c.*489A>C (n.*489A>C)
c.*2013A>C (n.*2013A>C)
c.1763A>C (p.Glu588Ala)
c.1402-10470A>C (n.1402-10470A>C)
c.2099A>C (p.Glu700Ala)
c.2279A>C (p.Glu760Ala)
c.1946A>C (p.Glu649Ala)
 ClinVar
7g.117592356A>GCA368980335CFTRc.2189A>G (p.Glu730Gly)
c.*1903A>G (n.*1903A>G)
c.2006A>G (p.Glu669Gly)
c.*489A>G (n.*489A>G)
c.*2013A>G (n.*2013A>G)
c.1763A>G (p.Glu588Gly)
c.1402-10470A>G (n.1402-10470A>G)
c.2099A>G (p.Glu700Gly)
c.2279A>G (p.Glu760Gly)
c.1946A>G (p.Glu649Gly)
7g.117592356A>TCA368980336CFTRc.2189A>T (p.Glu730Val)
c.*1903A>T (n.*1903A>T)
c.2006A>T (p.Glu669Val)
c.*489A>T (n.*489A>T)
c.*2013A>T (n.*2013A>T)
c.1763A>T (p.Glu588Val)
c.1402-10470A>T (n.1402-10470A>T)
c.2099A>T (p.Glu700Val)
c.2279A>T (p.Glu760Val)
c.1946A>T (p.Glu649Val)
7g.117592357delCA2695208512CFTRc.2190del (p.Glu730AspfsTer3)
c.*1904del (n.*1904del)
c.2007del (p.Glu669AspfsTer3)
c.*490del (n.*490del)
c.*2014del (n.*2014del)
c.1764del (p.Glu588AspfsTer3)
c.1402-10469del (n.1402-10469del)
c.2100del (p.Glu700AspfsTer3)
c.2280del (p.Glu760AspfsTer3)
c.1947del (p.Glu649AspfsTer3)
7g.117592357G>ACA457449409CFTRc.2190G>A (p.Glu730=)
c.*1904G>A (n.*1904G>A)
c.2007G>A (p.Glu669=)
c.*490G>A (n.*490G>A)
c.*2014G>A (n.*2014G>A)
c.1764G>A (p.Glu588=)
c.1402-10469G>A (n.1402-10469G>A)
c.2100G>A (p.Glu700=)
c.2280G>A (p.Glu760=)
c.1947G>A (p.Glu649=)
 ClinVar
7g.117592357G>CCA368980337CFTRc.2190G>C (p.Glu730Asp)
c.*1904G>C (n.*1904G>C)
c.2007G>C (p.Glu669Asp)
c.*490G>C (n.*490G>C)
c.*2014G>C (n.*2014G>C)
c.1764G>C (p.Glu588Asp)
c.1402-10469G>C (n.1402-10469G>C)
c.2100G>C (p.Glu700Asp)
c.2280G>C (p.Glu760Asp)
c.1947G>C (p.Glu649Asp)
7g.117592357G>TCA368980338CFTRc.2190G>T (p.Glu730Asp)
c.*1904G>T (n.*1904G>T)
c.2007G>T (p.Glu669Asp)
c.*490G>T (n.*490G>T)
c.*2014G>T (n.*2014G>T)
c.1764G>T (p.Glu588Asp)
c.1402-10469G>T (n.1402-10469G>T)
c.2100G>T (p.Glu700Asp)
c.2280G>T (p.Glu760Asp)
c.1947G>T (p.Glu649Asp)
7g.117592358C>ACA368980339CFTRc.2191C>A (p.Pro731Thr)
c.*1905C>A (n.*1905C>A)
c.2008C>A (p.Pro670Thr)
c.*491C>A (n.*491C>A)
c.*2015C>A (n.*2015C>A)
c.1765C>A (p.Pro589Thr)
c.1402-10468C>A (n.1402-10468C>A)
c.2101C>A (p.Pro701Thr)
c.2281C>A (p.Pro761Thr)
c.1948C>A (p.Pro650Thr)
7g.117592358C=CA1737394983CFTRc.2191C= (p.Pro731=)
c.*1905C= (n.*1905C=)
c.2008C= (p.Pro670=)
c.*491C= (n.*491C=)
c.*2015C= (n.*2015C=)
c.1765C= (p.Pro589=)
c.1402-10468C= (n.1402-10468C=)
c.2101C= (p.Pro701=)
c.2281C= (p.Pro761=)
c.1948C= (p.Pro650=)
7g.117592358C>GCA368980340CFTRc.2191C>G (p.Pro731Ala)
c.*1905C>G (n.*1905C>G)
c.2008C>G (p.Pro670Ala)
c.*491C>G (n.*491C>G)
c.*2015C>G (n.*2015C>G)
c.1765C>G (p.Pro589Ala)
c.1402-10468C>G (n.1402-10468C>G)
c.2101C>G (p.Pro701Ala)
c.2281C>G (p.Pro761Ala)
c.1948C>G (p.Pro650Ala)
7g.117592358C>TCA368980341CFTRc.2191C>T (p.Pro731Ser)
c.*1905C>T (n.*1905C>T)
c.2008C>T (p.Pro670Ser)
c.*491C>T (n.*491C>T)
c.*2015C>T (n.*2015C>T)
c.1765C>T (p.Pro589Ser)
c.1402-10468C>T (n.1402-10468C>T)
c.2101C>T (p.Pro701Ser)
c.2281C>T (p.Pro761Ser)
c.1948C>T (p.Pro650Ser)
 ClinVar dbSNP
7g.117592359C>ACA368980343CFTRc.2192C>A (p.Pro731His)
c.*1906C>A (n.*1906C>A)
c.2009C>A (p.Pro670His)
c.*492C>A (n.*492C>A)
c.*2016C>A (n.*2016C>A)
c.1766C>A (p.Pro589His)
c.1402-10467C>A (n.1402-10467C>A)
c.2102C>A (p.Pro701His)
c.2282C>A (p.Pro761His)
c.1949C>A (p.Pro650His)
7g.117592359C=CA1737394988CFTRc.2192C= (p.Pro731=)
c.*1906C= (n.*1906C=)
c.2009C= (p.Pro670=)
c.*492C= (n.*492C=)
c.*2016C= (n.*2016C=)
c.1766C= (p.Pro589=)
c.1402-10467C= (n.1402-10467C=)
c.2102C= (p.Pro701=)
c.2282C= (p.Pro761=)
c.1949C= (p.Pro650=)
7g.117592359C>GCA368980342CFTRc.2192C>G (p.Pro731Arg)
c.*1906C>G (n.*1906C>G)
c.2009C>G (p.Pro670Arg)
c.*492C>G (n.*492C>G)
c.*2016C>G (n.*2016C>G)
c.1766C>G (p.Pro589Arg)
c.1402-10467C>G (n.1402-10467C>G)
c.2102C>G (p.Pro701Arg)
c.2282C>G (p.Pro761Arg)
c.1949C>G (p.Pro650Arg)
 ClinVar dbSNP
7g.117592359C>TCA4451152CFTRc.2192C>T (p.Pro731Leu)
c.*1906C>T (n.*1906C>T)
c.2009C>T (p.Pro670Leu)
c.*492C>T (n.*492C>T)
c.*2016C>T (n.*2016C>T)
c.1766C>T (p.Pro589Leu)
c.1402-10467C>T (n.1402-10467C>T)
c.2102C>T (p.Pro701Leu)
c.2282C>T (p.Pro761Leu)
c.1949C>T (p.Pro650Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117592360T>ACA457449413CFTRc.2193T>A (p.Pro731=)
c.*1907T>A (n.*1907T>A)
c.2010T>A (p.Pro670=)
c.*493T>A (n.*493T>A)
c.*2017T>A (n.*2017T>A)
c.1767T>A (p.Pro589=)
c.1402-10466T>A (n.1402-10466T>A)
c.2103T>A (p.Pro701=)
c.2283T>A (p.Pro761=)
c.1950T>A (p.Pro650=)
7g.117592360T>CCA10605877CFTRc.2193T>C (p.Pro731=)
c.*1907T>C (n.*1907T>C)
c.2010T>C (p.Pro670=)
c.*493T>C (n.*493T>C)
c.*2017T>C (n.*2017T>C)
c.1767T>C (p.Pro589=)
c.1402-10466T>C (n.1402-10466T>C)
c.2103T>C (p.Pro701=)
c.2283T>C (p.Pro761=)
c.1950T>C (p.Pro650=)
 ClinVar dbSNP
7g.117592360T>GCA457449414CFTRc.2193T>G (p.Pro731=)
c.*1907T>G (n.*1907T>G)
c.2010T>G (p.Pro670=)
c.*493T>G (n.*493T>G)
c.*2017T>G (n.*2017T>G)
c.1767T>G (p.Pro589=)
c.1402-10466T>G (n.1402-10466T>G)
c.2103T>G (p.Pro701=)
c.2283T>G (p.Pro761=)
c.1950T>G (p.Pro650=)
7g.117592360T=CA1737394991CFTRc.2193T= (p.Pro731=)
c.*1907T= (n.*1907T=)
c.2010T= (p.Pro670=)
c.*493T= (n.*493T=)
c.*2017T= (n.*2017T=)
c.1767T= (p.Pro589=)
c.1402-10466T= (n.1402-10466T=)
c.2103T= (p.Pro701=)
c.2283T= (p.Pro761=)
c.1950T= (p.Pro650=)

Number of alleles fetched