Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
7	g.117591251_117595608delinsCTACATTTGTACTA	CA2580076490	CFTR	c.1767-683_2619+550delinsCTACATTTGTACTA c.1481-683_2333+550delinsCTACATTTGTACTA c.1584-683_2436+550delinsCTACATTTGTACTA c.67-683_919+550delinsCTACATTTGTACTA c.1591-683_2443+550delinsCTACATTTGTACTA c.1341-683_2193+550delinsCTACATTTGTACTA c.1402-11575_1402-7218delinsCTACATTTGTACTA (n.1402-11575_1402-7218delinsCTACATTTGTACTA) c.1677-683_2529+550delinsCTACATTTGTACTA c.1857-683_2709+550delinsCTACATTTGTACTA c.1524-683_2376+550delinsCTACATTTGTACTA	ClinVar
7	g.117592470C>A	CA368980935	CFTR	c.2303C>A (p.Ser768Tyr) c.2017C>A (n.2017C>A) c.2120C>A (p.Ser707Tyr) c.603C>A (n.603C>A) c.2127C>A (n.2127C>A) c.1877C>A (p.Ser626Tyr) c.1402-10356C>A (n.1402-10356C>A) c.2213C>A (p.Ser738Tyr) c.2393C>A (p.Ser798Tyr) c.2060C>A (p.Ser687Tyr)
7	g.117592470C=	CA1737395241	CFTR	c.2303C= (p.Ser768=) c.2017C= (n.2017C=) c.2120C= (p.Ser707=) c.603C= (n.603C=) c.2127C= (n.2127C=) c.1877C= (p.Ser626=) c.1402-10356C= (n.1402-10356C=) c.2213C= (p.Ser738=) c.2393C= (p.Ser798=) c.2060C= (p.Ser687=)
7	g.117592470C>G	CA368980933	CFTR	c.2303C>G (p.Ser768Cys) c.2017C>G (n.2017C>G) c.2120C>G (p.Ser707Cys) c.603C>G (n.603C>G) c.2127C>G (n.2127C>G) c.1877C>G (p.Ser626Cys) c.1402-10356C>G (n.1402-10356C>G) c.2213C>G (p.Ser738Cys) c.2393C>G (p.Ser798Cys) c.2060C>G (p.Ser687Cys)
7	g.117592470C>T	CA368980934	CFTR	c.2303C>T (p.Ser768Phe) c.2017C>T (n.2017C>T) c.2120C>T (p.Ser707Phe) c.603C>T (n.603C>T) c.2127C>T (n.2127C>T) c.1877C>T (p.Ser626Phe) c.1402-10356C>T (n.1402-10356C>T) c.2213C>T (p.Ser738Phe) c.2393C>T (p.Ser798Phe) c.2060C>T (p.Ser687Phe)	dbSNP gnomAD v2 gnomAD v4
7	g.117592471T>A	CA457449696	CFTR	c.2304T>A (p.Ser768=) c.2018T>A (n.2018T>A) c.2121T>A (p.Ser707=) c.604T>A (n.604T>A) c.2128T>A (n.2128T>A) c.1878T>A (p.Ser626=) c.1402-10355T>A (n.1402-10355T>A) c.2214T>A (p.Ser738=) c.2394T>A (p.Ser798=) c.2061T>A (p.Ser687=)	ClinVar
7	g.117592471T>C	CA457449692	CFTR	c.2304T>C (p.Ser768=) c.2018T>C (n.2018T>C) c.2121T>C (p.Ser707=) c.604T>C (n.604T>C) c.2128T>C (n.2128T>C) c.1878T>C (p.Ser626=) c.1402-10355T>C (n.1402-10355T>C) c.2214T>C (p.Ser738=) c.2394T>C (p.Ser798=) c.2061T>C (p.Ser687=)	gnomAD v4
7	g.117592471T>G	CA457449695	CFTR	c.2304T>G (p.Ser768=) c.2018T>G (n.2018T>G) c.2121T>G (p.Ser707=) c.604T>G (n.604T>G) c.2128T>G (n.2128T>G) c.1878T>G (p.Ser626=) c.1402-10355T>G (n.1402-10355T>G) c.2214T>G (p.Ser738=) c.2394T>G (p.Ser798=) c.2061T>G (p.Ser687=)
7	g.117592472G>A	CA368980936	CFTR	c.2305G>A (p.Val769Ile) c.2019G>A (n.2019G>A) c.2122G>A (p.Val708Ile) c.605G>A (n.605G>A) c.2129G>A (n.2129G>A) c.1879G>A (p.Val627Ile) c.1402-10354G>A (n.1402-10354G>A) c.2215G>A (p.Val739Ile) c.2395G>A (p.Val799Ile) c.2062G>A (p.Val688Ile)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7	g.117592472G>C	CA368980937	CFTR	c.2305G>C (p.Val769Leu) c.2019G>C (n.2019G>C) c.2122G>C (p.Val708Leu) c.605G>C (n.605G>C) c.2129G>C (n.2129G>C) c.1879G>C (p.Val627Leu) c.1402-10354G>C (n.1402-10354G>C) c.2215G>C (p.Val739Leu) c.2395G>C (p.Val799Leu) c.2062G>C (p.Val688Leu)
7	g.117592472G=	CA1737395247	CFTR	c.2305G= (p.Val769=) c.2019G= (n.2019G=) c.2122G= (p.Val708=) c.605G= (n.605G=) c.2129G= (n.2129G=) c.1879G= (p.Val627=) c.1402-10354G= (n.1402-10354G=) c.2215G= (p.Val739=) c.2395G= (p.Val799=) c.2062G= (p.Val688=)
7	g.117592472G>T	CA368980938	CFTR	c.2305G>T (p.Val769Phe) c.2019G>T (n.2019G>T) c.2122G>T (p.Val708Phe) c.605G>T (n.605G>T) c.2129G>T (n.2129G>T) c.1879G>T (p.Val627Phe) c.1402-10354G>T (n.1402-10354G>T) c.2215G>T (p.Val739Phe) c.2395G>T (p.Val799Phe) c.2062G>T (p.Val688Phe)
7	g.117592473T>A	CA368980939	CFTR	c.2306T>A (p.Val769Asp) c.2020T>A (n.2020T>A) c.2123T>A (p.Val708Asp) c.606T>A (n.606T>A) c.2130T>A (n.2130T>A) c.1880T>A (p.Val627Asp) c.1402-10353T>A (n.1402-10353T>A) c.2216T>A (p.Val739Asp) c.2396T>A (p.Val799Asp) c.2063T>A (p.Val688Asp)
7	g.117592473T>C	CA368980940	CFTR	c.2306T>C (p.Val769Ala) c.2020T>C (n.2020T>C) c.2123T>C (p.Val708Ala) c.606T>C (n.606T>C) c.2130T>C (n.2130T>C) c.1880T>C (p.Val627Ala) c.1402-10353T>C (n.1402-10353T>C) c.2216T>C (p.Val739Ala) c.2396T>C (p.Val799Ala) c.2063T>C (p.Val688Ala)
7	g.117592473T>G	CA368980941	CFTR	c.2306T>G (p.Val769Gly) c.2020T>G (n.2020T>G) c.2123T>G (p.Val708Gly) c.606T>G (n.606T>G) c.2130T>G (n.2130T>G) c.1880T>G (p.Val627Gly) c.1402-10353T>G (n.1402-10353T>G) c.2216T>G (p.Val739Gly) c.2396T>G (p.Val799Gly) c.2063T>G (p.Val688Gly)
7	g.117592474C>A	CA457449701	CFTR	c.2307C>A (p.Val769=) c.2021C>A (n.2021C>A) c.2124C>A (p.Val708=) c.607C>A (n.607C>A) c.2131C>A (n.2131C>A) c.1881C>A (p.Val627=) c.1402-10352C>A (n.1402-10352C>A) c.2217C>A (p.Val739=) c.2397C>A (p.Val799=) c.2064C>A (p.Val688=)	gnomAD v4
7	g.117592474C=	CA1737395249	CFTR	c.2307C= (p.Val769=) c.2021C= (n.2021C=) c.2124C= (p.Val708=) c.607C= (n.607C=) c.2131C= (n.2131C=) c.1881C= (p.Val627=) c.1402-10352C= (n.1402-10352C=) c.2217C= (p.Val739=) c.2397C= (p.Val799=) c.2064C= (p.Val688=)
7	g.117592474C>G	CA457449705	CFTR	c.2307C>G (p.Val769=) c.2021C>G (n.2021C>G) c.2124C>G (p.Val708=) c.607C>G (n.607C>G) c.2131C>G (n.2131C>G) c.1881C>G (p.Val627=) c.1402-10352C>G (n.1402-10352C>G) c.2217C>G (p.Val739=) c.2397C>G (p.Val799=) c.2064C>G (p.Val688=)	ClinVar dbSNP gnomAD v2 gnomAD v4
7	g.117592474C>T	CA457449703	CFTR	c.2307C>T (p.Val769=) c.2021C>T (n.2021C>T) c.2124C>T (p.Val708=) c.607C>T (n.607C>T) c.2131C>T (n.2131C>T) c.1881C>T (p.Val627=) c.1402-10352C>T (n.1402-10352C>T) c.2217C>T (p.Val739=) c.2397C>T (p.Val799=) c.2064C>T (p.Val688=)	dbSNP
7	g.117592475C>A	CA368980942	CFTR	c.2308C>A (p.Leu770Met) c.2022C>A (n.2022C>A) c.2125C>A (p.Leu709Met) c.608C>A (n.608C>A) c.2132C>A (n.2132C>A) c.1882C>A (p.Leu628Met) c.1402-10351C>A (n.1402-10351C>A) c.2218C>A (p.Leu740Met) c.2398C>A (p.Leu800Met) c.2065C>A (p.Leu689Met)
7	g.117592475C>G	CA368980943	CFTR	c.2308C>G (p.Leu770Val) c.2022C>G (n.2022C>G) c.2125C>G (p.Leu709Val) c.608C>G (n.608C>G) c.2132C>G (n.2132C>G) c.1882C>G (p.Leu628Val) c.1402-10351C>G (n.1402-10351C>G) c.2218C>G (p.Leu740Val) c.2398C>G (p.Leu800Val) c.2065C>G (p.Leu689Val)
7	g.117592475C>T	CA457449709	CFTR	c.2308C>T (p.Leu770=) c.2022C>T (n.2022C>T) c.2125C>T (p.Leu709=) c.608C>T (n.608C>T) c.2132C>T (n.2132C>T) c.1882C>T (p.Leu628=) c.1402-10351C>T (n.1402-10351C>T) c.2218C>T (p.Leu740=) c.2398C>T (p.Leu800=) c.2065C>T (p.Leu689=)
7	g.117592476T>A	CA368980944	CFTR	c.2309T>A (p.Leu770Gln) c.2023T>A (n.2023T>A) c.2126T>A (p.Leu709Gln) c.609T>A (n.609T>A) c.2133T>A (n.2133T>A) c.1883T>A (p.Leu628Gln) c.1402-10350T>A (n.1402-10350T>A) c.2219T>A (p.Leu740Gln) c.2399T>A (p.Leu800Gln) c.2066T>A (p.Leu689Gln)
7	g.117592476T>C	CA368980945	CFTR	c.2309T>C (p.Leu770Pro) c.2023T>C (n.2023T>C) c.2126T>C (p.Leu709Pro) c.609T>C (n.609T>C) c.2133T>C (n.2133T>C) c.1883T>C (p.Leu628Pro) c.1402-10350T>C (n.1402-10350T>C) c.2219T>C (p.Leu740Pro) c.2399T>C (p.Leu800Pro) c.2066T>C (p.Leu689Pro)
7	g.117592476T>G	CA368980946	CFTR	c.2309T>G (p.Leu770Arg) c.2023T>G (n.2023T>G) c.2126T>G (p.Leu709Arg) c.609T>G (n.609T>G) c.2133T>G (n.2133T>G) c.1883T>G (p.Leu628Arg) c.1402-10350T>G (n.1402-10350T>G) c.2219T>G (p.Leu740Arg) c.2399T>G (p.Leu800Arg) c.2066T>G (p.Leu689Arg)
7	g.117592477G>A	CA457449710	CFTR	c.2310G>A (p.Leu770=) c.2024G>A (n.2024G>A) c.2127G>A (p.Leu709=) c.610G>A (n.610G>A) c.2134G>A (n.2134G>A) c.1884G>A (p.Leu628=) c.1402-10349G>A (n.1402-10349G>A) c.2220G>A (p.Leu740=) c.2400G>A (p.Leu800=) c.2067G>A (p.Leu689=)
7	g.117592477G>C	CA457449712	CFTR	c.2310G>C (p.Leu770=) c.2024G>C (n.2024G>C) c.2127G>C (p.Leu709=) c.610G>C (n.610G>C) c.2134G>C (n.2134G>C) c.1884G>C (p.Leu628=) c.1402-10349G>C (n.1402-10349G>C) c.2220G>C (p.Leu740=) c.2400G>C (p.Leu800=) c.2067G>C (p.Leu689=)
7	g.117592477G>T	CA457449715	CFTR	c.2310G>T (p.Leu770=) c.2024G>T (n.2024G>T) c.2127G>T (p.Leu709=) c.610G>T (n.610G>T) c.2134G>T (n.2134G>T) c.1884G>T (p.Leu628=) c.1402-10349G>T (n.1402-10349G>T) c.2220G>T (p.Leu740=) c.2400G>T (p.Leu800=) c.2067G>T (p.Leu689=)	ClinVar
7	g.117592478A>C	CA368980949	CFTR	c.2311A>C (p.Asn771His) c.2025A>C (n.2025A>C) c.2128A>C (p.Asn710His) c.611A>C (n.611A>C) c.2135A>C (n.2135A>C) c.1885A>C (p.Asn629His) c.1402-10348A>C (n.1402-10348A>C) c.2221A>C (p.Asn741His) c.2401A>C (p.Asn801His) c.2068A>C (p.Asn690His)
7	g.117592478A>G	CA368980947	CFTR	c.2311A>G (p.Asn771Asp) c.2025A>G (n.2025A>G) c.2128A>G (p.Asn710Asp) c.611A>G (n.611A>G) c.2135A>G (n.2135A>G) c.1885A>G (p.Asn629Asp) c.1402-10348A>G (n.1402-10348A>G) c.2221A>G (p.Asn741Asp) c.2401A>G (p.Asn801Asp) c.2068A>G (p.Asn690Asp)
7	g.117592478A>T	CA368980948	CFTR	c.2311A>T (p.Asn771Tyr) c.2025A>T (n.2025A>T) c.2128A>T (p.Asn710Tyr) c.611A>T (n.611A>T) c.2135A>T (n.2135A>T) c.1885A>T (p.Asn629Tyr) c.1402-10348A>T (n.1402-10348A>T) c.2221A>T (p.Asn741Tyr) c.2401A>T (p.Asn801Tyr) c.2068A>T (p.Asn690Tyr)
7	g.117592479del	CA2695208516	CFTR	c.2312del (p.Asn771ThrfsTer2) c.2026del (n.2026del) c.2129del (p.Asn710ThrfsTer2) c.612del (n.612del) c.2136del (n.2136del) c.1886del (p.Asn629ThrfsTer2) c.1402-10347del (n.1402-10347del) c.2222del (p.Asn741ThrfsTer2) c.2402del (p.Asn801ThrfsTer2) c.2069del (p.Asn690ThrfsTer2)
7	g.117592479A>C	CA368980950	CFTR	c.2312A>C (p.Asn771Thr) c.2026A>C (n.2026A>C) c.2129A>C (p.Asn710Thr) c.612A>C (n.612A>C) c.2136A>C (n.2136A>C) c.1886A>C (p.Asn629Thr) c.1402-10347A>C (n.1402-10347A>C) c.2222A>C (p.Asn741Thr) c.2402A>C (p.Asn801Thr) c.2069A>C (p.Asn690Thr)
7	g.117592479A>G	CA368980951	CFTR	c.2312A>G (p.Asn771Ser) c.2026A>G (n.2026A>G) c.2129A>G (p.Asn710Ser) c.612A>G (n.612A>G) c.2136A>G (n.2136A>G) c.1886A>G (p.Asn629Ser) c.1402-10347A>G (n.1402-10347A>G) c.2222A>G (p.Asn741Ser) c.2402A>G (p.Asn801Ser) c.2069A>G (p.Asn690Ser)	ClinVar gnomAD v4
7	g.117592479A>T	CA368980952	CFTR	c.2312A>T (p.Asn771Ile) c.2026A>T (n.2026A>T) c.2129A>T (p.Asn710Ile) c.612A>T (n.612A>T) c.2136A>T (n.2136A>T) c.1886A>T (p.Asn629Ile) c.1402-10347A>T (n.1402-10347A>T) c.2222A>T (p.Asn741Ile) c.2402A>T (p.Asn801Ile) c.2069A>T (p.Asn690Ile)
7	g.117592480C>A	CA368980953	CFTR	c.2313C>A (p.Asn771Lys) c.2027C>A (n.2027C>A) c.2130C>A (p.Asn710Lys) c.613C>A (n.613C>A) c.2137C>A (n.2137C>A) c.1887C>A (p.Asn629Lys) c.1402-10346C>A (n.1402-10346C>A) c.2223C>A (p.Asn741Lys) c.2403C>A (p.Asn801Lys) c.2070C>A (p.Asn690Lys)
7	g.117592480C=	CA1737395254	CFTR	c.2313C= (p.Asn771=) c.2027C= (n.2027C=) c.2130C= (p.Asn710=) c.613C= (n.613C=) c.2137C= (n.2137C=) c.1887C= (p.Asn629=) c.1402-10346C= (n.1402-10346C=) c.2223C= (p.Asn741=) c.2403C= (p.Asn801=) c.2070C= (p.Asn690=)
7	g.117592480C>G	CA368980954	CFTR	c.2313C>G (p.Asn771Lys) c.2027C>G (n.2027C>G) c.2130C>G (p.Asn710Lys) c.613C>G (n.613C>G) c.2137C>G (n.2137C>G) c.1887C>G (p.Asn629Lys) c.1402-10346C>G (n.1402-10346C>G) c.2223C>G (p.Asn741Lys) c.2403C>G (p.Asn801Lys) c.2070C>G (p.Asn690Lys)
7	g.117592480C>T	CA4451169	CFTR	c.2313C>T (p.Asn771=) c.2027C>T (n.2027C>T) c.2130C>T (p.Asn710=) c.613C>T (n.613C>T) c.2137C>T (n.2137C>T) c.1887C>T (p.Asn629=) c.1402-10346C>T (n.1402-10346C>T) c.2223C>T (p.Asn741=) c.2403C>T (p.Asn801=) c.2070C>T (p.Asn690=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7	g.117592481C>A	CA368980955	CFTR	c.2314C>A (p.Leu772Met) c.2028C>A (n.2028C>A) c.2131C>A (p.Leu711Met) c.614C>A (n.614C>A) c.2138C>A (n.2138C>A) c.1888C>A (p.Leu630Met) c.1402-10345C>A (n.1402-10345C>A) c.2224C>A (p.Leu742Met) c.2404C>A (p.Leu802Met) c.2071C>A (p.Leu691Met)
7	g.117592481C>G	CA368980956	CFTR	c.2314C>G (p.Leu772Val) c.2028C>G (n.2028C>G) c.2131C>G (p.Leu711Val) c.614C>G (n.614C>G) c.2138C>G (n.2138C>G) c.1888C>G (p.Leu630Val) c.1402-10345C>G (n.1402-10345C>G) c.2224C>G (p.Leu742Val) c.2404C>G (p.Leu802Val) c.2071C>G (p.Leu691Val)
7	g.117592481C>T	CA457449724	CFTR	c.2314C>T (p.Leu772=) c.2028C>T (n.2028C>T) c.2131C>T (p.Leu711=) c.614C>T (n.614C>T) c.2138C>T (n.2138C>T) c.1888C>T (p.Leu630=) c.1402-10345C>T (n.1402-10345C>T) c.2224C>T (p.Leu742=) c.2404C>T (p.Leu802=) c.2071C>T (p.Leu691=)
7	g.117592482T>A	CA368980957	CFTR	c.2315T>A (p.Leu772Gln) c.2029T>A (n.2029T>A) c.2132T>A (p.Leu711Gln) c.615T>A (n.615T>A) c.2139T>A (n.2139T>A) c.1889T>A (p.Leu630Gln) c.1402-10344T>A (n.1402-10344T>A) c.2225T>A (p.Leu742Gln) c.2405T>A (p.Leu802Gln) c.2072T>A (p.Leu691Gln)
7	g.117592482T>C	CA368980958	CFTR	c.2315T>C (p.Leu772Pro) c.2029T>C (n.2029T>C) c.2132T>C (p.Leu711Pro) c.615T>C (n.615T>C) c.2139T>C (n.2139T>C) c.1889T>C (p.Leu630Pro) c.1402-10344T>C (n.1402-10344T>C) c.2225T>C (p.Leu742Pro) c.2405T>C (p.Leu802Pro) c.2072T>C (p.Leu691Pro)	gnomAD v4
7	g.117592482T>G	CA368980959	CFTR	c.2315T>G (p.Leu772Arg) c.2029T>G (n.2029T>G) c.2132T>G (p.Leu711Arg) c.615T>G (n.615T>G) c.2139T>G (n.2139T>G) c.1889T>G (p.Leu630Arg) c.1402-10344T>G (n.1402-10344T>G) c.2225T>G (p.Leu742Arg) c.2405T>G (p.Leu802Arg) c.2072T>G (p.Leu691Arg)
7	g.117592483G>A	CA457449727	CFTR	c.2316G>A (p.Leu772=) c.2030G>A (n.2030G>A) c.2133G>A (p.Leu711=) c.616G>A (n.616G>A) c.2140G>A (n.2140G>A) c.1890G>A (p.Leu630=) c.1402-10343G>A (n.1402-10343G>A) c.2226G>A (p.Leu742=) c.2406G>A (p.Leu802=) c.2073G>A (p.Leu691=)
7	g.117592483G>C	CA457449730	CFTR	c.2316G>C (p.Leu772=) c.2030G>C (n.2030G>C) c.2133G>C (p.Leu711=) c.616G>C (n.616G>C) c.2140G>C (n.2140G>C) c.1890G>C (p.Leu630=) c.1402-10343G>C (n.1402-10343G>C) c.2226G>C (p.Leu742=) c.2406G>C (p.Leu802=) c.2073G>C (p.Leu691=)
7	g.117592483G>T	CA457449733	CFTR	c.2316G>T (p.Leu772=) c.2030G>T (n.2030G>T) c.2133G>T (p.Leu711=) c.616G>T (n.616G>T) c.2140G>T (n.2140G>T) c.1890G>T (p.Leu630=) c.1402-10343G>T (n.1402-10343G>T) c.2226G>T (p.Leu742=) c.2406G>T (p.Leu802=) c.2073G>T (p.Leu691=)
7	g.117592484A>C	CA368980962	CFTR	c.2317A>C (p.Met773Leu) c.2031A>C (n.2031A>C) c.2134A>C (p.Met712Leu) c.617A>C (n.617A>C) c.2141A>C (n.2141A>C) c.1891A>C (p.Met631Leu) c.1402-10342A>C (n.1402-10342A>C) c.2227A>C (p.Met743Leu) c.2407A>C (p.Met803Leu) c.2074A>C (p.Met692Leu)
7	g.117592484A>G	CA368980961	CFTR	c.2317A>G (p.Met773Val) c.2031A>G (n.2031A>G) c.2134A>G (p.Met712Val) c.617A>G (n.617A>G) c.2141A>G (n.2141A>G) c.1891A>G (p.Met631Val) c.1402-10342A>G (n.1402-10342A>G) c.2227A>G (p.Met743Val) c.2407A>G (p.Met803Val) c.2074A>G (p.Met692Val)
7	g.117592484A>T	CA368980960	CFTR	c.2317A>T (p.Met773Leu) c.2031A>T (n.2031A>T) c.2134A>T (p.Met712Leu) c.617A>T (n.617A>T) c.2141A>T (n.2141A>T) c.1891A>T (p.Met631Leu) c.1402-10342A>T (n.1402-10342A>T) c.2227A>T (p.Met743Leu) c.2407A>T (p.Met803Leu) c.2074A>T (p.Met692Leu)
7	g.117592485T>A	CA368980963	CFTR	c.2318T>A (p.Met773Lys) c.2032T>A (n.2032T>A) c.2135T>A (p.Met712Lys) c.618T>A (n.618T>A) c.2142T>A (n.2142T>A) c.1892T>A (p.Met631Lys) c.1402-10341T>A (n.1402-10341T>A) c.2228T>A (p.Met743Lys) c.2408T>A (p.Met803Lys) c.2075T>A (p.Met692Lys)
7	g.117592485T>C	CA368980964	CFTR	c.2318T>C (p.Met773Thr) c.2032T>C (n.2032T>C) c.2135T>C (p.Met712Thr) c.618T>C (n.618T>C) c.2142T>C (n.2142T>C) c.1892T>C (p.Met631Thr) c.1402-10341T>C (n.1402-10341T>C) c.2228T>C (p.Met743Thr) c.2408T>C (p.Met803Thr) c.2075T>C (p.Met692Thr)
7	g.117592485T>G	CA368980965	CFTR	c.2318T>G (p.Met773Arg) c.2032T>G (n.2032T>G) c.2135T>G (p.Met712Arg) c.618T>G (n.618T>G) c.2142T>G (n.2142T>G) c.1892T>G (p.Met631Arg) c.1402-10341T>G (n.1402-10341T>G) c.2228T>G (p.Met743Arg) c.2408T>G (p.Met803Arg) c.2075T>G (p.Met692Arg)
7	g.117592486G>A	CA368980966	CFTR	c.2319G>A (p.Met773Ile) c.2033G>A (n.2033G>A) c.2136G>A (p.Met712Ile) c.619G>A (n.619G>A) c.2143G>A (n.2143G>A) c.1893G>A (p.Met631Ile) c.1402-10340G>A (n.1402-10340G>A) c.2229G>A (p.Met743Ile) c.2409G>A (p.Met803Ile) c.2076G>A (p.Met692Ile)
7	g.117592486G>C	CA368980967	CFTR	c.2319G>C (p.Met773Ile) c.2033G>C (n.2033G>C) c.2136G>C (p.Met712Ile) c.619G>C (n.619G>C) c.2143G>C (n.2143G>C) c.1893G>C (p.Met631Ile) c.1402-10340G>C (n.1402-10340G>C) c.2229G>C (p.Met743Ile) c.2409G>C (p.Met803Ile) c.2076G>C (p.Met692Ile)
7	g.117592486G>T	CA368980968	CFTR	c.2319G>T (p.Met773Ile) c.2033G>T (n.2033G>T) c.2136G>T (p.Met712Ile) c.619G>T (n.619G>T) c.2143G>T (n.2143G>T) c.1893G>T (p.Met631Ile) c.1402-10340G>T (n.1402-10340G>T) c.2229G>T (p.Met743Ile) c.2409G>T (p.Met803Ile) c.2076G>T (p.Met692Ile)
7	g.117592486_117592488delinsGAC	CA1737395261	CFTR	c.2319_2321delinsGAC (p.Met773=) c.2033_2035delinsGAC (n.2033_2035delinsGAC) c.2136_2138delinsGAC (p.Met712=) c.619_621delinsGAC (n.619_621delinsGAC) c.2143_2145delinsGAC (n.2143_2145delinsGAC) c.1893_1895delinsGAC (p.Met631=) c.1402-10340_1402-10338delinsGAC (n.1402-10340_1402-10338delinsGAC) c.2229_2231delinsGAC (p.Met743=) c.2409_2411delinsGAC (p.Met803=) c.2076_2078delinsGAC (p.Met692=)
7	g.117592487A>C	CA368980969	CFTR	c.2320A>C (p.Thr774Pro) c.2034A>C (n.2034A>C) c.2137A>C (p.Thr713Pro) c.620A>C (n.620A>C) c.2144A>C (n.2144A>C) c.1894A>C (p.Thr632Pro) c.1402-10339A>C (n.1402-10339A>C) c.2230A>C (p.Thr744Pro) c.2410A>C (p.Thr804Pro) c.2077A>C (p.Thr693Pro)
7	g.117592487A>G	CA368980970	CFTR	c.2320A>G (p.Thr774Ala) c.2034A>G (n.2034A>G) c.2137A>G (p.Thr713Ala) c.620A>G (n.620A>G) c.2144A>G (n.2144A>G) c.1894A>G (p.Thr632Ala) c.1402-10339A>G (n.1402-10339A>G) c.2230A>G (p.Thr744Ala) c.2410A>G (p.Thr804Ala) c.2077A>G (p.Thr693Ala)
7	g.117592487A>T	CA368980971	CFTR	c.2320A>T (p.Thr774Ser) c.2034A>T (n.2034A>T) c.2137A>T (p.Thr713Ser) c.620A>T (n.620A>T) c.2144A>T (n.2144A>T) c.1894A>T (p.Thr632Ser) c.1402-10339A>T (n.1402-10339A>T) c.2230A>T (p.Thr744Ser) c.2410A>T (p.Thr804Ser) c.2077A>T (p.Thr693Ser)
7	g.117592491_117592492del	CA326791	CFTR	c.2324_2325del (p.His775LeufsTer3) c.2038_2039del (n.2038_2039del) c.2141_2142del (p.His714LeufsTer3) c.624_625del (n.624_625del) c.2148_2149del (n.2148_2149del) c.1898_1899del (p.His633LeufsTer3) c.1402-10335_1402-10334del (n.1402-10335_1402-10334del) c.2234_2235del (p.His745LeufsTer3) c.2414_2415del (p.His805LeufsTer3) c.2081_2082del (p.His694LeufsTer3)	ClinVar dbSNP
7	g.117592488C>A	CA368980972	CFTR	c.2321C>A (p.Thr774Lys) c.2035C>A (n.2035C>A) c.2138C>A (p.Thr713Lys) c.621C>A (n.621C>A) c.2145C>A (n.2145C>A) c.1895C>A (p.Thr632Lys) c.1402-10338C>A (n.1402-10338C>A) c.2231C>A (p.Thr744Lys) c.2411C>A (p.Thr804Lys) c.2078C>A (p.Thr693Lys)	gnomAD v4
7	g.117592488C>G	CA368980973	CFTR	c.2321C>G (p.Thr774Arg) c.2035C>G (n.2035C>G) c.2138C>G (p.Thr713Arg) c.621C>G (n.621C>G) c.2145C>G (n.2145C>G) c.1895C>G (p.Thr632Arg) c.1402-10338C>G (n.1402-10338C>G) c.2231C>G (p.Thr744Arg) c.2411C>G (p.Thr804Arg) c.2078C>G (p.Thr693Arg)	ClinVar
7	g.117592488C>T	CA368980974	CFTR	c.2321C>T (p.Thr774Ile) c.2035C>T (n.2035C>T) c.2138C>T (p.Thr713Ile) c.621C>T (n.621C>T) c.2145C>T (n.2145C>T) c.1895C>T (p.Thr632Ile) c.1402-10338C>T (n.1402-10338C>T) c.2231C>T (p.Thr744Ile) c.2411C>T (p.Thr804Ile) c.2078C>T (p.Thr693Ile)
7	g.117592489A=	CA1737395270	CFTR	c.2322A= (p.Thr774=) c.2036A= (n.2036A=) c.2139A= (p.Thr713=) c.622A= (n.622A=) c.2146A= (n.2146A=) c.1896A= (p.Thr632=) c.1402-10337A= (n.1402-10337A=) c.2232A= (p.Thr744=) c.2412A= (p.Thr804=) c.2079A= (p.Thr693=)
7	g.117592489A>C	CA457449748	CFTR	c.2322A>C (p.Thr774=) c.2036A>C (n.2036A>C) c.2139A>C (p.Thr713=) c.622A>C (n.622A>C) c.2146A>C (n.2146A>C) c.1896A>C (p.Thr632=) c.1402-10337A>C (n.1402-10337A>C) c.2232A>C (p.Thr744=) c.2412A>C (p.Thr804=) c.2079A>C (p.Thr693=)
7	g.117592489A>G	CA457449747	CFTR	c.2322A>G (p.Thr774=) c.2036A>G (n.2036A>G) c.2139A>G (p.Thr713=) c.622A>G (n.622A>G) c.2146A>G (n.2146A>G) c.1896A>G (p.Thr632=) c.1402-10337A>G (n.1402-10337A>G) c.2232A>G (p.Thr744=) c.2412A>G (p.Thr804=) c.2079A>G (p.Thr693=)	ClinVar
7	g.117592489A>T	CA4451170	CFTR	c.2322A>T (p.Thr774=) c.2036A>T (n.2036A>T) c.2139A>T (p.Thr713=) c.622A>T (n.622A>T) c.2146A>T (n.2146A>T) c.1896A>T (p.Thr632=) c.1402-10337A>T (n.1402-10337A>T) c.2232A>T (p.Thr744=) c.2412A>T (p.Thr804=) c.2079A>T (p.Thr693=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7	g.117592490C>A	CA368980976	CFTR	c.2323C>A (p.His775Asn) c.2037C>A (n.2037C>A) c.2140C>A (p.His714Asn) c.623C>A (n.623C>A) c.2147C>A (n.2147C>A) c.1897C>A (p.His633Asn) c.1402-10336C>A (n.1402-10336C>A) c.2233C>A (p.His745Asn) c.2413C>A (p.His805Asn) c.2080C>A (p.His694Asn)
7	g.117592490C=	CA1737395276	CFTR	c.2323C= (p.His775=) c.2037C= (n.2037C=) c.2140C= (p.His714=) c.623C= (n.623C=) c.2147C= (n.2147C=) c.1897C= (p.His633=) c.1402-10336C= (n.1402-10336C=) c.2233C= (p.His745=) c.2413C= (p.His805=) c.2080C= (p.His694=)
7	g.117592490C>G	CA368980975	CFTR	c.2323C>G (p.His775Asp) c.2037C>G (n.2037C>G) c.2140C>G (p.His714Asp) c.623C>G (n.623C>G) c.2147C>G (n.2147C>G) c.1897C>G (p.His633Asp) c.1402-10336C>G (n.1402-10336C>G) c.2233C>G (p.His745Asp) c.2413C>G (p.His805Asp) c.2080C>G (p.His694Asp)
7	g.117592490C>T	CA4451171	CFTR	c.2323C>T (p.His775Tyr) c.2037C>T (n.2037C>T) c.2140C>T (p.His714Tyr) c.623C>T (n.623C>T) c.2147C>T (n.2147C>T) c.1897C>T (p.His633Tyr) c.1402-10336C>T (n.1402-10336C>T) c.2233C>T (p.His745Tyr) c.2413C>T (p.His805Tyr) c.2080C>T (p.His694Tyr)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
7	g.117592491A=	CA1737395280	CFTR	c.2324A= (p.His775=) c.2038A= (n.2038A=) c.2141A= (p.His714=) c.624A= (n.624A=) c.2148A= (n.2148A=) c.1898A= (p.His633=) c.1402-10335A= (n.1402-10335A=) c.2234A= (p.His745=) c.2414A= (p.His805=) c.2081A= (p.His694=)
7	g.117592491A>C	CA368980977	CFTR	c.2324A>C (p.His775Pro) c.2038A>C (n.2038A>C) c.2141A>C (p.His714Pro) c.624A>C (n.624A>C) c.2148A>C (n.2148A>C) c.1898A>C (p.His633Pro) c.1402-10335A>C (n.1402-10335A>C) c.2234A>C (p.His745Pro) c.2414A>C (p.His805Pro) c.2081A>C (p.His694Pro)
7	g.117592491A>G	CA4451172	CFTR	c.2324A>G (p.His775Arg) c.2038A>G (n.2038A>G) c.2141A>G (p.His714Arg) c.624A>G (n.624A>G) c.2148A>G (n.2148A>G) c.1898A>G (p.His633Arg) c.1402-10335A>G (n.1402-10335A>G) c.2234A>G (p.His745Arg) c.2414A>G (p.His805Arg) c.2081A>G (p.His694Arg)	dbSNP ExAC gnomAD v2 gnomAD v4
7	g.117592491A>T	CA368980978	CFTR	c.2324A>T (p.His775Leu) c.2038A>T (n.2038A>T) c.2141A>T (p.His714Leu) c.624A>T (n.624A>T) c.2148A>T (n.2148A>T) c.1898A>T (p.His633Leu) c.1402-10335A>T (n.1402-10335A>T) c.2234A>T (p.His745Leu) c.2414A>T (p.His805Leu) c.2081A>T (p.His694Leu)
7	g.117592492C>A	CA368980979	CFTR	c.2325C>A (p.His775Gln) c.2039C>A (n.2039C>A) c.2142C>A (p.His714Gln) c.625C>A (n.625C>A) c.2149C>A (n.2149C>A) c.1899C>A (p.His633Gln) c.1402-10334C>A (n.1402-10334C>A) c.2235C>A (p.His745Gln) c.2415C>A (p.His805Gln) c.2082C>A (p.His694Gln)
7	g.117592492C>G	CA368980980	CFTR	c.2325C>G (p.His775Gln) c.2039C>G (n.2039C>G) c.2142C>G (p.His714Gln) c.625C>G (n.625C>G) c.2149C>G (n.2149C>G) c.1899C>G (p.His633Gln) c.1402-10334C>G (n.1402-10334C>G) c.2235C>G (p.His745Gln) c.2415C>G (p.His805Gln) c.2082C>G (p.His694Gln)
7	g.117592492C>T	CA457449754	CFTR	c.2325C>T (p.His775=) c.2039C>T (n.2039C>T) c.2142C>T (p.His714=) c.625C>T (n.625C>T) c.2149C>T (n.2149C>T) c.1899C>T (p.His633=) c.1402-10334C>T (n.1402-10334C>T) c.2235C>T (p.His745=) c.2415C>T (p.His805=) c.2082C>T (p.His694=)	ClinVar
7	g.117592493T>A	CA368980981	CFTR	c.2326T>A (p.Ser776Thr) c.2040T>A (n.2040T>A) c.2143T>A (p.Ser715Thr) c.626T>A (n.626T>A) c.2150T>A (n.2150T>A) c.1900T>A (p.Ser634Thr) c.1402-10333T>A (n.1402-10333T>A) c.2236T>A (p.Ser746Thr) c.2416T>A (p.Ser806Thr) c.2083T>A (p.Ser695Thr)
7	g.117592493T>C	CA368980982	CFTR	c.2326T>C (p.Ser776Pro) c.2040T>C (n.2040T>C) c.2143T>C (p.Ser715Pro) c.626T>C (n.626T>C) c.2150T>C (n.2150T>C) c.1900T>C (p.Ser634Pro) c.1402-10333T>C (n.1402-10333T>C) c.2236T>C (p.Ser746Pro) c.2416T>C (p.Ser806Pro) c.2083T>C (p.Ser695Pro)
7	g.117592493T>G	CA368980983	CFTR	c.2326T>G (p.Ser776Ala) c.2040T>G (n.2040T>G) c.2143T>G (p.Ser715Ala) c.626T>G (n.626T>G) c.2150T>G (n.2150T>G) c.1900T>G (p.Ser634Ala) c.1402-10333T>G (n.1402-10333T>G) c.2236T>G (p.Ser746Ala) c.2416T>G (p.Ser806Ala) c.2083T>G (p.Ser695Ala)
7	g.117592494C>A	CA368980984	CFTR	c.2327C>A (p.Ser776Ter) c.2041C>A (n.2041C>A) c.2144C>A (p.Ser715Ter) c.627C>A (n.627C>A) c.2151C>A (n.2151C>A) c.1901C>A (p.Ser634Ter) c.1402-10332C>A (n.1402-10332C>A) c.2237C>A (p.Ser746Ter) c.2417C>A (p.Ser806Ter) c.2084C>A (p.Ser695Ter)
7	g.117592494C=	CA1737395284	CFTR	c.2327C= (p.Ser776=) c.2041C= (n.2041C=) c.2144C= (p.Ser715=) c.627C= (n.627C=) c.2151C= (n.2151C=) c.1901C= (p.Ser634=) c.1402-10332C= (n.1402-10332C=) c.2237C= (p.Ser746=) c.2417C= (p.Ser806=) c.2084C= (p.Ser695=)
7	g.117592494C>G	CA326792	CFTR	c.2327C>G (p.Ser776Ter) c.2041C>G (n.2041C>G) c.2144C>G (p.Ser715Ter) c.627C>G (n.627C>G) c.2151C>G (n.2151C>G) c.1901C>G (p.Ser634Ter) c.1402-10332C>G (n.1402-10332C>G) c.2237C>G (p.Ser746Ter) c.2417C>G (p.Ser806Ter) c.2084C>G (p.Ser695Ter)	ClinVar dbSNP
7	g.117592494C>T	CA368980985	CFTR	c.2327C>T (p.Ser776Leu) c.2041C>T (n.2041C>T) c.2144C>T (p.Ser715Leu) c.627C>T (n.627C>T) c.2151C>T (n.2151C>T) c.1901C>T (p.Ser634Leu) c.1402-10332C>T (n.1402-10332C>T) c.2237C>T (p.Ser746Leu) c.2417C>T (p.Ser806Leu) c.2084C>T (p.Ser695Leu)	ClinVar dbSNP gnomAD v2 gnomAD v4
7	g.117592495A>C	CA457449762	CFTR	c.2328A>C (p.Ser776=) c.2042A>C (n.2042A>C) c.2145A>C (p.Ser715=) c.628A>C (n.628A>C) c.2152A>C (n.2152A>C) c.1902A>C (p.Ser634=) c.1402-10331A>C (n.1402-10331A>C) c.2238A>C (p.Ser746=) c.2418A>C (p.Ser806=) c.2085A>C (p.Ser695=)
7	g.117592495A>G	CA457449763	CFTR	c.2328A>G (p.Ser776=) c.2042A>G (n.2042A>G) c.2145A>G (p.Ser715=) c.628A>G (n.628A>G) c.2152A>G (n.2152A>G) c.1902A>G (p.Ser634=) c.1402-10331A>G (n.1402-10331A>G) c.2238A>G (p.Ser746=) c.2418A>G (p.Ser806=) c.2085A>G (p.Ser695=)	ClinVar dbSNP gnomAD v4
7	g.117592495A>T	CA457449766	CFTR	c.2328A>T (p.Ser776=) c.2042A>T (n.2042A>T) c.2145A>T (p.Ser715=) c.628A>T (n.628A>T) c.2152A>T (n.2152A>T) c.1902A>T (p.Ser634=) c.1402-10331A>T (n.1402-10331A>T) c.2238A>T (p.Ser746=) c.2418A>T (p.Ser806=) c.2085A>T (p.Ser695=)
7	g.117592495dup	CA2695208517	CFTR	c.2328dup (p.Val777SerfsTer2) c.2042dup (n.2042dup) c.2145dup (p.Val716SerfsTer2) c.628dup (n.628dup) c.2152dup (n.2152dup) c.1902dup (p.Val635SerfsTer2) c.1402-10331dup (n.1402-10331dup) c.2238dup (p.Val747SerfsTer2) c.2418dup (p.Val807SerfsTer2) c.2085dup (p.Val696SerfsTer2)
7	g.117592496G>A	CA368980988	CFTR	c.2329G>A (p.Val777Ile) c.2043G>A (n.2043G>A) c.2146G>A (p.Val716Ile) c.629G>A (n.629G>A) c.2153G>A (n.2153G>A) c.1903G>A (p.Val635Ile) c.1402-10330G>A (n.1402-10330G>A) c.2239G>A (p.Val747Ile) c.2419G>A (p.Val807Ile) c.2086G>A (p.Val696Ile)
7	g.117592496G>C	CA368980987	CFTR	c.2329G>C (p.Val777Leu) c.2043G>C (n.2043G>C) c.2146G>C (p.Val716Leu) c.629G>C (n.629G>C) c.2153G>C (n.2153G>C) c.1903G>C (p.Val635Leu) c.1402-10330G>C (n.1402-10330G>C) c.2239G>C (p.Val747Leu) c.2419G>C (p.Val807Leu) c.2086G>C (p.Val696Leu)
7	g.117592496G>T	CA368980986	CFTR	c.2329G>T (p.Val777Phe) c.2043G>T (n.2043G>T) c.2146G>T (p.Val716Phe) c.629G>T (n.629G>T) c.2153G>T (n.2153G>T) c.1903G>T (p.Val635Phe) c.1402-10330G>T (n.1402-10330G>T) c.2239G>T (p.Val747Phe) c.2419G>T (p.Val807Phe) c.2086G>T (p.Val696Phe)
7	g.117592497T>A	CA368980989	CFTR	c.2330T>A (p.Val777Asp) c.2044T>A (n.2044T>A) c.2147T>A (p.Val716Asp) c.630T>A (n.630T>A) c.2154T>A (n.2154T>A) c.1904T>A (p.Val635Asp) c.1402-10329T>A (n.1402-10329T>A) c.2240T>A (p.Val747Asp) c.2420T>A (p.Val807Asp) c.2087T>A (p.Val696Asp)
7	g.117592497T>C	CA368980991	CFTR	c.2330T>C (p.Val777Ala) c.2044T>C (n.2044T>C) c.2147T>C (p.Val716Ala) c.630T>C (n.630T>C) c.2154T>C (n.2154T>C) c.1904T>C (p.Val635Ala) c.1402-10329T>C (n.1402-10329T>C) c.2240T>C (p.Val747Ala) c.2420T>C (p.Val807Ala) c.2087T>C (p.Val696Ala)
7	g.117592497T>G	CA368980990	CFTR	c.2330T>G (p.Val777Gly) c.2044T>G (n.2044T>G) c.2147T>G (p.Val716Gly) c.630T>G (n.630T>G) c.2154T>G (n.2154T>G) c.1904T>G (p.Val635Gly) c.1402-10329T>G (n.1402-10329T>G) c.2240T>G (p.Val747Gly) c.2420T>G (p.Val807Gly) c.2087T>G (p.Val696Gly)
7	g.117592498T>A	CA457449770	CFTR	c.2331T>A (p.Val777=) c.2045T>A (n.2045T>A) c.2148T>A (p.Val716=) c.631T>A (n.631T>A) c.2155T>A (n.2155T>A) c.1905T>A (p.Val635=) c.1402-10328T>A (n.1402-10328T>A) c.2241T>A (p.Val747=) c.2421T>A (p.Val807=) c.2088T>A (p.Val696=)
7	g.117592498T>C	CA457449772	CFTR	c.2331T>C (p.Val777=) c.2045T>C (n.2045T>C) c.2148T>C (p.Val716=) c.631T>C (n.631T>C) c.2155T>C (n.2155T>C) c.1905T>C (p.Val635=) c.1402-10328T>C (n.1402-10328T>C) c.2241T>C (p.Val747=) c.2421T>C (p.Val807=) c.2088T>C (p.Val696=)
7	g.117592498T>G	CA457449773	CFTR	c.2331T>G (p.Val777=) c.2045T>G (n.2045T>G) c.2148T>G (p.Val716=) c.631T>G (n.631T>G) c.2155T>G (n.2155T>G) c.1905T>G (p.Val635=) c.1402-10328T>G (n.1402-10328T>G) c.2241T>G (p.Val747=) c.2421T>G (p.Val807=) c.2088T>G (p.Val696=)
7	g.117592499A>C	CA368980992	CFTR	c.2332A>C (p.Asn778His) c.2046A>C (n.2046A>C) c.2149A>C (p.Asn717His) c.632A>C (n.632A>C) c.2156A>C (n.2156A>C) c.1906A>C (p.Asn636His) c.1402-10327A>C (n.1402-10327A>C) c.2242A>C (p.Asn748His) c.2422A>C (p.Asn808His) c.2089A>C (p.Asn697His)
7	g.117592499A>G	CA368980993	CFTR	c.2332A>G (p.Asn778Asp) c.2046A>G (n.2046A>G) c.2149A>G (p.Asn717Asp) c.632A>G (n.632A>G) c.2156A>G (n.2156A>G) c.1906A>G (p.Asn636Asp) c.1402-10327A>G (n.1402-10327A>G) c.2242A>G (p.Asn748Asp) c.2422A>G (p.Asn808Asp) c.2089A>G (p.Asn697Asp)
7	g.117592499A>T	CA368980994	CFTR	c.2332A>T (p.Asn778Tyr) c.2046A>T (n.2046A>T) c.2149A>T (p.Asn717Tyr) c.632A>T (n.632A>T) c.2156A>T (n.2156A>T) c.1906A>T (p.Asn636Tyr) c.1402-10327A>T (n.1402-10327A>T) c.2242A>T (p.Asn748Tyr) c.2422A>T (p.Asn808Tyr) c.2089A>T (p.Asn697Tyr)
7	g.117592500del	CA2695208518	CFTR	c.2333del (p.Asn778ThrfsTer25) c.2047del (n.2047del) c.2150del (p.Asn717ThrfsTer25) c.633del (n.633del) c.2157del (n.2157del) c.1907del (p.Asn636ThrfsTer25) c.1402-10326del (n.1402-10326del) c.2243del (p.Asn748ThrfsTer25) c.2423del (p.Asn808ThrfsTer25) c.2090del (p.Asn697ThrfsTer25)
7	g.117592500A>C	CA368980995	CFTR	c.2333A>C (p.Asn778Thr) c.2047A>C (n.2047A>C) c.2150A>C (p.Asn717Thr) c.633A>C (n.633A>C) c.2157A>C (n.2157A>C) c.1907A>C (p.Asn636Thr) c.1402-10326A>C (n.1402-10326A>C) c.2243A>C (p.Asn748Thr) c.2423A>C (p.Asn808Thr) c.2090A>C (p.Asn697Thr)
7	g.117592500A>G	CA368980996	CFTR	c.2333A>G (p.Asn778Ser) c.2047A>G (n.2047A>G) c.2150A>G (p.Asn717Ser) c.633A>G (n.633A>G) c.2157A>G (n.2157A>G) c.1907A>G (p.Asn636Ser) c.1402-10326A>G (n.1402-10326A>G) c.2243A>G (p.Asn748Ser) c.2423A>G (p.Asn808Ser) c.2090A>G (p.Asn697Ser)
7	g.117592500A>T	CA368980997	CFTR	c.2333A>T (p.Asn778Ile) c.2047A>T (n.2047A>T) c.2150A>T (p.Asn717Ile) c.633A>T (n.633A>T) c.2157A>T (n.2157A>T) c.1907A>T (p.Asn636Ile) c.1402-10326A>T (n.1402-10326A>T) c.2243A>T (p.Asn748Ile) c.2423A>T (p.Asn808Ile) c.2090A>T (p.Asn697Ile)
7	g.117592501C>A	CA368980998	CFTR	c.2334C>A (p.Asn778Lys) c.2048C>A (n.2048C>A) c.2151C>A (p.Asn717Lys) c.634C>A (n.634C>A) c.2158C>A (n.2158C>A) c.1908C>A (p.Asn636Lys) c.1402-10325C>A (n.1402-10325C>A) c.2244C>A (p.Asn748Lys) c.2424C>A (p.Asn808Lys) c.2091C>A (p.Asn697Lys)	gnomAD v4
7	g.117592501C>G	CA368980999	CFTR	c.2334C>G (p.Asn778Lys) c.2048C>G (n.2048C>G) c.2151C>G (p.Asn717Lys) c.634C>G (n.634C>G) c.2158C>G (n.2158C>G) c.1908C>G (p.Asn636Lys) c.1402-10325C>G (n.1402-10325C>G) c.2244C>G (p.Asn748Lys) c.2424C>G (p.Asn808Lys) c.2091C>G (p.Asn697Lys)	gnomAD v4
7	g.117592501C>T	CA457449775	CFTR	c.2334C>T (p.Asn778=) c.2048C>T (n.2048C>T) c.2151C>T (p.Asn717=) c.634C>T (n.634C>T) c.2158C>T (n.2158C>T) c.1908C>T (p.Asn636=) c.1402-10325C>T (n.1402-10325C>T) c.2244C>T (p.Asn748=) c.2424C>T (p.Asn808=) c.2091C>T (p.Asn697=)
7	g.117592502del	CA2580076545	CFTR	c.2335del (p.Gln779LysfsTer24) c.2049del (n.2049del) c.2152del (p.Gln718LysfsTer24) c.635del (n.635del) c.2159del (n.2159del) c.1909del (p.Gln637LysfsTer24) c.1402-10324del (n.1402-10324del) c.2245del (p.Gln749LysfsTer24) c.2425del (p.Gln809LysfsTer24) c.2092del (p.Gln698LysfsTer24)	ClinVar
7	g.117592502C>A	CA368981000	CFTR	c.2335C>A (p.Gln779Lys) c.2049C>A (n.2049C>A) c.2152C>A (p.Gln718Lys) c.635C>A (n.635C>A) c.2159C>A (n.2159C>A) c.1909C>A (p.Gln637Lys) c.1402-10324C>A (n.1402-10324C>A) c.2245C>A (p.Gln749Lys) c.2425C>A (p.Gln809Lys) c.2092C>A (p.Gln698Lys)	ClinVar gnomAD v4
7	g.117592502C>G	CA368981001	CFTR	c.2335C>G (p.Gln779Glu) c.2049C>G (n.2049C>G) c.2152C>G (p.Gln718Glu) c.635C>G (n.635C>G) c.2159C>G (n.2159C>G) c.1909C>G (p.Gln637Glu) c.1402-10324C>G (n.1402-10324C>G) c.2245C>G (p.Gln749Glu) c.2425C>G (p.Gln809Glu) c.2092C>G (p.Gln698Glu)
7	g.117592502C>T	CA368981002	CFTR	c.2335C>T (p.Gln779Ter) c.2049C>T (n.2049C>T) c.2152C>T (p.Gln718Ter) c.635C>T (n.635C>T) c.2159C>T (n.2159C>T) c.1909C>T (p.Gln637Ter) c.1402-10324C>T (n.1402-10324C>T) c.2245C>T (p.Gln749Ter) c.2425C>T (p.Gln809Ter) c.2092C>T (p.Gln698Ter)	ClinVar dbSNP
7	g.117592503A>C	CA368981003	CFTR	c.2336A>C (p.Gln779Pro) c.2050A>C (n.2050A>C) c.2153A>C (p.Gln718Pro) c.636A>C (n.636A>C) c.2160A>C (n.2160A>C) c.1910A>C (p.Gln637Pro) c.1402-10323A>C (n.1402-10323A>C) c.2246A>C (p.Gln749Pro) c.2426A>C (p.Gln809Pro) c.2093A>C (p.Gln698Pro)
7	g.117592503A>G	CA368981004	CFTR	c.2336A>G (p.Gln779Arg) c.2050A>G (n.2050A>G) c.2153A>G (p.Gln718Arg) c.636A>G (n.636A>G) c.2160A>G (n.2160A>G) c.1910A>G (p.Gln637Arg) c.1402-10323A>G (n.1402-10323A>G) c.2246A>G (p.Gln749Arg) c.2426A>G (p.Gln809Arg) c.2093A>G (p.Gln698Arg)
7	g.117592503A>T	CA368981005	CFTR	c.2336A>T (p.Gln779Leu) c.2050A>T (n.2050A>T) c.2153A>T (p.Gln718Leu) c.636A>T (n.636A>T) c.2160A>T (n.2160A>T) c.1910A>T (p.Gln637Leu) c.1402-10323A>T (n.1402-10323A>T) c.2246A>T (p.Gln749Leu) c.2426A>T (p.Gln809Leu) c.2093A>T (p.Gln698Leu)
7	g.117592504del	CA2580076546	CFTR	c.2337del (p.Gly780ValfsTer23) c.2051del (n.2051del) c.2154del (p.Gly719ValfsTer23) c.637del (n.637del) c.2161del (n.2161del) c.1911del (p.Gly638ValfsTer23) c.1402-10322del (n.1402-10322del) c.2247del (p.Gly750ValfsTer23) c.2427del (p.Gly810ValfsTer23) c.2094del (p.Gly699ValfsTer23)	ClinVar
7	g.117592504A>C	CA368981006	CFTR	c.2337A>C (p.Gln779His) c.2051A>C (n.2051A>C) c.2154A>C (p.Gln718His) c.637A>C (n.637A>C) c.2161A>C (n.2161A>C) c.1911A>C (p.Gln637His) c.1402-10322A>C (n.1402-10322A>C) c.2247A>C (p.Gln749His) c.2427A>C (p.Gln809His) c.2094A>C (p.Gln698His)
7	g.117592504A>G	CA457449783	CFTR	c.2337A>G (p.Gln779=) c.2051A>G (n.2051A>G) c.2154A>G (p.Gln718=) c.637A>G (n.637A>G) c.2161A>G (n.2161A>G) c.1911A>G (p.Gln637=) c.1402-10322A>G (n.1402-10322A>G) c.2247A>G (p.Gln749=) c.2427A>G (p.Gln809=) c.2094A>G (p.Gln698=)	ClinVar
7	g.117592504A>T	CA368981007	CFTR	c.2337A>T (p.Gln779His) c.2051A>T (n.2051A>T) c.2154A>T (p.Gln718His) c.637A>T (n.637A>T) c.2161A>T (n.2161A>T) c.1911A>T (p.Gln637His) c.1402-10322A>T (n.1402-10322A>T) c.2247A>T (p.Gln749His) c.2427A>T (p.Gln809His) c.2094A>T (p.Gln698His)
7	g.117592505G>A	CA368981008	CFTR	c.2338G>A (p.Gly780Ser) c.2052G>A (n.2052G>A) c.2155G>A (p.Gly719Ser) c.638G>A (n.638G>A) c.2162G>A (n.2162G>A) c.1912G>A (p.Gly638Ser) c.1402-10321G>A (n.1402-10321G>A) c.2248G>A (p.Gly750Ser) c.2428G>A (p.Gly810Ser) c.2095G>A (p.Gly699Ser)	gnomAD v4
7	g.117592505G>C	CA368981009	CFTR	c.2338G>C (p.Gly780Arg) c.2052G>C (n.2052G>C) c.2155G>C (p.Gly719Arg) c.638G>C (n.638G>C) c.2162G>C (n.2162G>C) c.1912G>C (p.Gly638Arg) c.1402-10321G>C (n.1402-10321G>C) c.2248G>C (p.Gly750Arg) c.2428G>C (p.Gly810Arg) c.2095G>C (p.Gly699Arg)
7	g.117592505G>T	CA368981010	CFTR	c.2338G>T (p.Gly780Cys) c.2052G>T (n.2052G>T) c.2155G>T (p.Gly719Cys) c.638G>T (n.638G>T) c.2162G>T (n.2162G>T) c.1912G>T (p.Gly638Cys) c.1402-10321G>T (n.1402-10321G>T) c.2248G>T (p.Gly750Cys) c.2428G>T (p.Gly810Cys) c.2095G>T (p.Gly699Cys)	gnomAD v4
7	g.117592506del	CA2695208519	CFTR	c.2339del (p.Gly780ValfsTer23) c.2053del (n.2053del) c.2156del (p.Gly719ValfsTer23) c.639del (n.639del) c.2163del (n.2163del) c.1913del (p.Gly638ValfsTer23) c.1402-10320del (n.1402-10320del) c.2249del (p.Gly750ValfsTer23) c.2429del (p.Gly810ValfsTer23) c.2096del (p.Gly699ValfsTer23)
7	g.117592506G>A	CA368981011	CFTR	c.2339G>A (p.Gly780Asp) c.2053G>A (n.2053G>A) c.2156G>A (p.Gly719Asp) c.639G>A (n.639G>A) c.2163G>A (n.2163G>A) c.1913G>A (p.Gly638Asp) c.1402-10320G>A (n.1402-10320G>A) c.2249G>A (p.Gly750Asp) c.2429G>A (p.Gly810Asp) c.2096G>A (p.Gly699Asp)
7	g.117592506G>C	CA368981012	CFTR	c.2339G>C (p.Gly780Ala) c.2053G>C (n.2053G>C) c.2156G>C (p.Gly719Ala) c.639G>C (n.639G>C) c.2163G>C (n.2163G>C) c.1913G>C (p.Gly638Ala) c.1402-10320G>C (n.1402-10320G>C) c.2249G>C (p.Gly750Ala) c.2429G>C (p.Gly810Ala) c.2096G>C (p.Gly699Ala)
7	g.117592506G>T	CA368981013	CFTR	c.2339G>T (p.Gly780Val) c.2053G>T (n.2053G>T) c.2156G>T (p.Gly719Val) c.639G>T (n.639G>T) c.2163G>T (n.2163G>T) c.1913G>T (p.Gly638Val) c.1402-10320G>T (n.1402-10320G>T) c.2249G>T (p.Gly750Val) c.2429G>T (p.Gly810Val) c.2096G>T (p.Gly699Val)	gnomAD v4
7	g.117592507T>A	CA457449789	CFTR	c.2340T>A (p.Gly780=) c.2054T>A (n.2054T>A) c.2157T>A (p.Gly719=) c.640T>A (n.640T>A) c.2164T>A (n.2164T>A) c.1914T>A (p.Gly638=) c.1402-10319T>A (n.1402-10319T>A) c.2250T>A (p.Gly750=) c.2430T>A (p.Gly810=) c.2097T>A (p.Gly699=)
7	g.117592507T>C	CA457449791	CFTR	c.2340T>C (p.Gly780=) c.2054T>C (n.2054T>C) c.2157T>C (p.Gly719=) c.640T>C (n.640T>C) c.2164T>C (n.2164T>C) c.1914T>C (p.Gly638=) c.1402-10319T>C (n.1402-10319T>C) c.2250T>C (p.Gly750=) c.2430T>C (p.Gly810=) c.2097T>C (p.Gly699=)
7	g.117592507T>G	CA457449792	CFTR	c.2340T>G (p.Gly780=) c.2054T>G (n.2054T>G) c.2157T>G (p.Gly719=) c.640T>G (n.640T>G) c.2164T>G (n.2164T>G) c.1914T>G (p.Gly638=) c.1402-10319T>G (n.1402-10319T>G) c.2250T>G (p.Gly750=) c.2430T>G (p.Gly810=) c.2097T>G (p.Gly699=)
7	g.117592508C>A	CA368981014	CFTR	c.2341C>A (p.Gln781Lys) c.2055C>A (n.2055C>A) c.2158C>A (p.Gln720Lys) c.641C>A (n.641C>A) c.2165C>A (n.2165C>A) c.1915C>A (p.Gln639Lys) c.1402-10318C>A (n.1402-10318C>A) c.2251C>A (p.Gln751Lys) c.2431C>A (p.Gln811Lys) c.2098C>A (p.Gln700Lys)	gnomAD v4
7	g.117592508C=	CA1737395291	CFTR	c.2341C= (p.Gln781=) c.2055C= (n.2055C=) c.2158C= (p.Gln720=) c.641C= (n.641C=) c.2165C= (n.2165C=) c.1915C= (p.Gln639=) c.1402-10318C= (n.1402-10318C=) c.2251C= (p.Gln751=) c.2431C= (p.Gln811=) c.2098C= (p.Gln700=)
7	g.117592508C>G	CA368981015	CFTR	c.2341C>G (p.Gln781Glu) c.2055C>G (n.2055C>G) c.2158C>G (p.Gln720Glu) c.641C>G (n.641C>G) c.2165C>G (n.2165C>G) c.1915C>G (p.Gln639Glu) c.1402-10318C>G (n.1402-10318C>G) c.2251C>G (p.Gln751Glu) c.2431C>G (p.Gln811Glu) c.2098C>G (p.Gln700Glu)	ClinVar gnomAD v4
7	g.117592508C>T	CA326796	CFTR	c.2341C>T (p.Gln781Ter) c.2055C>T (n.2055C>T) c.2158C>T (p.Gln720Ter) c.641C>T (n.641C>T) c.2165C>T (n.2165C>T) c.1915C>T (p.Gln639Ter) c.1402-10318C>T (n.1402-10318C>T) c.2251C>T (p.Gln751Ter) c.2431C>T (p.Gln811Ter) c.2098C>T (p.Gln700Ter)	ClinVar dbSNP
7	g.117592509A>C	CA368981016	CFTR	c.2342A>C (p.Gln781Pro) c.2056A>C (n.2056A>C) c.2159A>C (p.Gln720Pro) c.642A>C (n.642A>C) c.2166A>C (n.2166A>C) c.1916A>C (p.Gln639Pro) c.1402-10317A>C (n.1402-10317A>C) c.2252A>C (p.Gln751Pro) c.2432A>C (p.Gln811Pro) c.2099A>C (p.Gln700Pro)
7	g.117592509A>G	CA368981017	CFTR	c.2342A>G (p.Gln781Arg) c.2056A>G (n.2056A>G) c.2159A>G (p.Gln720Arg) c.642A>G (n.642A>G) c.2166A>G (n.2166A>G) c.1916A>G (p.Gln639Arg) c.1402-10317A>G (n.1402-10317A>G) c.2252A>G (p.Gln751Arg) c.2432A>G (p.Gln811Arg) c.2099A>G (p.Gln700Arg)	ClinVar dbSNP gnomAD v4
7	g.117592509A>T	CA368981018	CFTR	c.2342A>T (p.Gln781Leu) c.2056A>T (n.2056A>T) c.2159A>T (p.Gln720Leu) c.642A>T (n.642A>T) c.2166A>T (n.2166A>T) c.1916A>T (p.Gln639Leu) c.1402-10317A>T (n.1402-10317A>T) c.2252A>T (p.Gln751Leu) c.2432A>T (p.Gln811Leu) c.2099A>T (p.Gln700Leu)
7	g.117592510G>A	CA457449800	CFTR	c.2343G>A (p.Gln781=) c.2057G>A (n.2057G>A) c.2160G>A (p.Gln720=) c.643G>A (n.643G>A) c.2167G>A (n.2167G>A) c.1917G>A (p.Gln639=) c.1402-10316G>A (n.1402-10316G>A) c.2253G>A (p.Gln751=) c.2433G>A (p.Gln811=) c.2100G>A (p.Gln700=)
7	g.117592510G>C	CA368981019	CFTR	c.2343G>C (p.Gln781His) c.2057G>C (n.2057G>C) c.2160G>C (p.Gln720His) c.643G>C (n.643G>C) c.2167G>C (n.2167G>C) c.1917G>C (p.Gln639His) c.1402-10316G>C (n.1402-10316G>C) c.2253G>C (p.Gln751His) c.2433G>C (p.Gln811His) c.2100G>C (p.Gln700His)	dbSNP gnomAD v2 gnomAD v4
7	g.117592510G=	CA1737395294	CFTR	c.2343G= (p.Gln781=) c.2057G= (n.2057G=) c.2160G= (p.Gln720=) c.643G= (n.643G=) c.2167G= (n.2167G=) c.1917G= (p.Gln639=) c.1402-10316G= (n.1402-10316G=) c.2253G= (p.Gln751=) c.2433G= (p.Gln811=) c.2100G= (p.Gln700=)
7	g.117592510G>T	CA368981020	CFTR	c.2343G>T (p.Gln781His) c.2057G>T (n.2057G>T) c.2160G>T (p.Gln720His) c.643G>T (n.643G>T) c.2167G>T (n.2167G>T) c.1917G>T (p.Gln639His) c.1402-10316G>T (n.1402-10316G>T) c.2253G>T (p.Gln751His) c.2433G>T (p.Gln811His) c.2100G>T (p.Gln700His)
7	g.117592511A>C	CA368981021	CFTR	c.2344A>C (p.Asn782His) c.2058A>C (n.2058A>C) c.2161A>C (p.Asn721His) c.644A>C (n.644A>C) c.2168A>C (n.2168A>C) c.1918A>C (p.Asn640His) c.1402-10315A>C (n.1402-10315A>C) c.2254A>C (p.Asn752His) c.2434A>C (p.Asn812His) c.2101A>C (p.Asn701His)
7	g.117592511A>G	CA368981022	CFTR	c.2344A>G (p.Asn782Asp) c.2058A>G (n.2058A>G) c.2161A>G (p.Asn721Asp) c.644A>G (n.644A>G) c.2168A>G (n.2168A>G) c.1918A>G (p.Asn640Asp) c.1402-10315A>G (n.1402-10315A>G) c.2254A>G (p.Asn752Asp) c.2434A>G (p.Asn812Asp) c.2101A>G (p.Asn701Asp)
7	g.117592511A>T	CA368981023	CFTR	c.2344A>T (p.Asn782Tyr) c.2058A>T (n.2058A>T) c.2161A>T (p.Asn721Tyr) c.644A>T (n.644A>T) c.2168A>T (n.2168A>T) c.1918A>T (p.Asn640Tyr) c.1402-10315A>T (n.1402-10315A>T) c.2254A>T (p.Asn752Tyr) c.2434A>T (p.Asn812Tyr) c.2101A>T (p.Asn701Tyr)
7	g.117592512A=	CA1737395296	CFTR	c.2345A= (p.Asn782=) c.2059A= (n.2059A=) c.2162A= (p.Asn721=) c.645A= (n.645A=) c.2169A= (n.2169A=) c.1919A= (p.Asn640=) c.1402-10314A= (n.1402-10314A=) c.2255A= (p.Asn752=) c.2435A= (p.Asn812=) c.2102A= (p.Asn701=)
7	g.117592512A>C	CA368981024	CFTR	c.2345A>C (p.Asn782Thr) c.2059A>C (n.2059A>C) c.2162A>C (p.Asn721Thr) c.645A>C (n.645A>C) c.2169A>C (n.2169A>C) c.1919A>C (p.Asn640Thr) c.1402-10314A>C (n.1402-10314A>C) c.2255A>C (p.Asn752Thr) c.2435A>C (p.Asn812Thr) c.2102A>C (p.Asn701Thr)	dbSNP
7	g.117592512A>G	CA368981025	CFTR	c.2345A>G (p.Asn782Ser) c.2059A>G (n.2059A>G) c.2162A>G (p.Asn721Ser) c.645A>G (n.645A>G) c.2169A>G (n.2169A>G) c.1919A>G (p.Asn640Ser) c.1402-10314A>G (n.1402-10314A>G) c.2255A>G (p.Asn752Ser) c.2435A>G (p.Asn812Ser) c.2102A>G (p.Asn701Ser)
7	g.117592512A>T	CA368981026	CFTR	c.2345A>T (p.Asn782Ile) c.2059A>T (n.2059A>T) c.2162A>T (p.Asn721Ile) c.645A>T (n.645A>T) c.2169A>T (n.2169A>T) c.1919A>T (p.Asn640Ile) c.1402-10314A>T (n.1402-10314A>T) c.2255A>T (p.Asn752Ile) c.2435A>T (p.Asn812Ile) c.2102A>T (p.Asn701Ile)
7	g.117592513C>A	CA326798	CFTR	c.2346C>A (p.Asn782Lys) c.2060C>A (n.2060C>A) c.2163C>A (p.Asn721Lys) c.646C>A (n.646C>A) c.2170C>A (n.2170C>A) c.1920C>A (p.Asn640Lys) c.1402-10313C>A (n.1402-10313C>A) c.2256C>A (p.Asn752Lys) c.2436C>A (p.Asn812Lys) c.2103C>A (p.Asn701Lys)	ClinVar dbSNP gnomAD v4
7	g.117592513C=	CA1737395301	CFTR	c.2346C= (p.Asn782=) c.2060C= (n.2060C=) c.2163C= (p.Asn721=) c.646C= (n.646C=) c.2170C= (n.2170C=) c.1920C= (p.Asn640=) c.1402-10313C= (n.1402-10313C=) c.2256C= (p.Asn752=) c.2436C= (p.Asn812=) c.2103C= (p.Asn701=)
7	g.117592513C>G	CA368981027	CFTR	c.2346C>G (p.Asn782Lys) c.2060C>G (n.2060C>G) c.2163C>G (p.Asn721Lys) c.646C>G (n.646C>G) c.2170C>G (n.2170C>G) c.1920C>G (p.Asn640Lys) c.1402-10313C>G (n.1402-10313C>G) c.2256C>G (p.Asn752Lys) c.2436C>G (p.Asn812Lys) c.2103C>G (p.Asn701Lys)
7	g.117592513C>T	CA164948226	CFTR	c.2346C>T (p.Asn782=) c.2060C>T (n.2060C>T) c.2163C>T (p.Asn721=) c.646C>T (n.646C>T) c.2170C>T (n.2170C>T) c.1920C>T (p.Asn640=) c.1402-10313C>T (n.1402-10313C>T) c.2256C>T (p.Asn752=) c.2436C>T (p.Asn812=) c.2103C>T (p.Asn701=)	ClinVar dbSNP gnomAD v3 gnomAD v4
7	g.117592514A=	CA1737395304	CFTR	c.2347A= (p.Ile783=) c.2061A= (n.2061A=) c.2164A= (p.Ile722=) c.647A= (n.647A=) c.2171A= (n.2171A=) c.1921A= (p.Ile641=) c.1402-10312A= (n.1402-10312A=) c.2257A= (p.Ile753=) c.2437A= (p.Ile813=) c.2104A= (p.Ile702=)
7	g.117592514A>C	CA368981028	CFTR	c.2347A>C (p.Ile783Leu) c.2061A>C (n.2061A>C) c.2164A>C (p.Ile722Leu) c.647A>C (n.647A>C) c.2171A>C (n.2171A>C) c.1921A>C (p.Ile641Leu) c.1402-10312A>C (n.1402-10312A>C) c.2257A>C (p.Ile753Leu) c.2437A>C (p.Ile813Leu) c.2104A>C (p.Ile702Leu)
7	g.117592514A>G	CA4451173	CFTR	c.2347A>G (p.Ile783Val) c.2061A>G (n.2061A>G) c.2164A>G (p.Ile722Val) c.647A>G (n.647A>G) c.2171A>G (n.2171A>G) c.1921A>G (p.Ile641Val) c.1402-10312A>G (n.1402-10312A>G) c.2257A>G (p.Ile753Val) c.2437A>G (p.Ile813Val) c.2104A>G (p.Ile702Val)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7	g.117592514A>T	CA368981029	CFTR	c.2347A>T (p.Ile783Phe) c.2061A>T (n.2061A>T) c.2164A>T (p.Ile722Phe) c.647A>T (n.647A>T) c.2171A>T (n.2171A>T) c.1921A>T (p.Ile641Phe) c.1402-10312A>T (n.1402-10312A>T) c.2257A>T (p.Ile753Phe) c.2437A>T (p.Ile813Phe) c.2104A>T (p.Ile702Phe)
7	g.117592515T>A	CA368981030	CFTR	c.2348T>A (p.Ile783Asn) c.2062T>A (n.2062T>A) c.2165T>A (p.Ile722Asn) c.648T>A (n.648T>A) c.2172T>A (n.2172T>A) c.1922T>A (p.Ile641Asn) c.1402-10311T>A (n.1402-10311T>A) c.2258T>A (p.Ile753Asn) c.2438T>A (p.Ile813Asn) c.2105T>A (p.Ile702Asn)
7	g.117592515T>C	CA368981031	CFTR	c.2348T>C (p.Ile783Thr) c.2062T>C (n.2062T>C) c.2165T>C (p.Ile722Thr) c.648T>C (n.648T>C) c.2172T>C (n.2172T>C) c.1922T>C (p.Ile641Thr) c.1402-10311T>C (n.1402-10311T>C) c.2258T>C (p.Ile753Thr) c.2438T>C (p.Ile813Thr) c.2105T>C (p.Ile702Thr)
7	g.117592515T>G	CA4451174	CFTR	c.2348T>G (p.Ile783Ser) c.2062T>G (n.2062T>G) c.2165T>G (p.Ile722Ser) c.648T>G (n.648T>G) c.2172T>G (n.2172T>G) c.1922T>G (p.Ile641Ser) c.1402-10311T>G (n.1402-10311T>G) c.2258T>G (p.Ile753Ser) c.2438T>G (p.Ile813Ser) c.2105T>G (p.Ile702Ser)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7	g.117592515T=	CA1737395307	CFTR	c.2348T= (p.Ile783=) c.2062T= (n.2062T=) c.2165T= (p.Ile722=) c.648T= (n.648T=) c.2172T= (n.2172T=) c.1922T= (p.Ile641=) c.1402-10311T= (n.1402-10311T=) c.2258T= (p.Ile753=) c.2438T= (p.Ile813=) c.2105T= (p.Ile702=)
7	g.117592516dup	CA2695208520	CFTR	c.2349dup (p.His784SerfsTer21) c.2063dup (n.2063dup) c.2166dup (p.His723SerfsTer21) c.649dup (n.649dup) c.2173dup (n.2173dup) c.1923dup (p.His642SerfsTer21) c.1402-10310dup (n.1402-10310dup) c.2259dup (p.His754SerfsTer21) c.2439dup (p.His814SerfsTer21) c.2106dup (p.His703SerfsTer21)
7	g.117592516T>A	CA457449818	CFTR	c.2349T>A (p.Ile783=) c.2063T>A (n.2063T>A) c.2166T>A (p.Ile722=) c.649T>A (n.649T>A) c.2173T>A (n.2173T>A) c.1923T>A (p.Ile641=) c.1402-10310T>A (n.1402-10310T>A) c.2259T>A (p.Ile753=) c.2439T>A (p.Ile813=) c.2106T>A (p.Ile702=)
7	g.117592516T>C	CA457449822	CFTR	c.2349T>C (p.Ile783=) c.2063T>C (n.2063T>C) c.2166T>C (p.Ile722=) c.649T>C (n.649T>C) c.2173T>C (n.2173T>C) c.1923T>C (p.Ile641=) c.1402-10310T>C (n.1402-10310T>C) c.2259T>C (p.Ile753=) c.2439T>C (p.Ile813=) c.2106T>C (p.Ile702=)	gnomAD v4
7	g.117592516T>G	CA368981032	CFTR	c.2349T>G (p.Ile783Met) c.2063T>G (n.2063T>G) c.2166T>G (p.Ile722Met) c.649T>G (n.649T>G) c.2173T>G (n.2173T>G) c.1923T>G (p.Ile641Met) c.1402-10310T>G (n.1402-10310T>G) c.2259T>G (p.Ile753Met) c.2439T>G (p.Ile813Met) c.2106T>G (p.Ile702Met)
7	g.117592517C>A	CA368981033	CFTR	c.2350C>A (p.His784Asn) c.2064C>A (n.2064C>A) c.2167C>A (p.His723Asn) c.650C>A (n.650C>A) c.2174C>A (n.2174C>A) c.1924C>A (p.His642Asn) c.1402-10309C>A (n.1402-10309C>A) c.2260C>A (p.His754Asn) c.2440C>A (p.His814Asn) c.2107C>A (p.His703Asn)
7	g.117592517C=	CA1737395308	CFTR	c.2350C= (p.His784=) c.2064C= (n.2064C=) c.2167C= (p.His723=) c.650C= (n.650C=) c.2174C= (n.2174C=) c.1924C= (p.His642=) c.1402-10309C= (n.1402-10309C=) c.2260C= (p.His754=) c.2440C= (p.His814=) c.2107C= (p.His703=)
7	g.117592517C>G	CA368981034	CFTR	c.2350C>G (p.His784Asp) c.2064C>G (n.2064C>G) c.2167C>G (p.His723Asp) c.650C>G (n.650C>G) c.2174C>G (n.2174C>G) c.1924C>G (p.His642Asp) c.1402-10309C>G (n.1402-10309C>G) c.2260C>G (p.His754Asp) c.2440C>G (p.His814Asp) c.2107C>G (p.His703Asp)	ClinVar dbSNP
7	g.117592517C>T	CA368981035	CFTR	c.2350C>T (p.His784Tyr) c.2064C>T (n.2064C>T) c.2167C>T (p.His723Tyr) c.650C>T (n.650C>T) c.2174C>T (n.2174C>T) c.1924C>T (p.His642Tyr) c.1402-10309C>T (n.1402-10309C>T) c.2260C>T (p.His754Tyr) c.2440C>T (p.His814Tyr) c.2107C>T (p.His703Tyr)
7	g.117592518A>C	CA368981036	CFTR	c.2351A>C (p.His784Pro) c.2065A>C (n.2065A>C) c.2168A>C (p.His723Pro) c.651A>C (n.651A>C) c.2175A>C (n.2175A>C) c.1925A>C (p.His642Pro) c.1A>C c.1402-10308A>C (n.1402-10308A>C) c.2261A>C (p.His754Pro) c.2441A>C (p.His814Pro) c.2108A>C (p.His703Pro)
7	g.117592518A>G	CA368981037	CFTR	c.2351A>G (p.His784Arg) c.2065A>G (n.2065A>G) c.2168A>G (p.His723Arg) c.651A>G (n.651A>G) c.2175A>G (n.2175A>G) c.1925A>G (p.His642Arg) c.1A>G c.1402-10308A>G (n.1402-10308A>G) c.2261A>G (p.His754Arg) c.2441A>G (p.His814Arg) c.2108A>G (p.His703Arg)	gnomAD v4 COSMIC
7	g.117592518A>T	CA368981038	CFTR	c.2351A>T (p.His784Leu) c.2065A>T (n.2065A>T) c.2168A>T (p.His723Leu) c.651A>T (n.651A>T) c.2175A>T (n.2175A>T) c.1925A>T (p.His642Leu) c.1A>T c.1402-10308A>T (n.1402-10308A>T) c.2261A>T (p.His754Leu) c.2441A>T (p.His814Leu) c.2108A>T (p.His703Leu)
7	g.117592519C>A	CA368981039	CFTR	c.2352C>A (p.His784Gln) c.2066C>A (n.2066C>A) c.2169C>A (p.His723Gln) c.652C>A (n.652C>A) c.2176C>A (n.2176C>A) c.1926C>A (p.His642Gln) c.2C>A c.1402-10307C>A (n.1402-10307C>A) c.2262C>A (p.His754Gln) c.2442C>A (p.His814Gln) c.2109C>A (p.His703Gln)
7	g.117592519C>G	CA368981040	CFTR	c.2352C>G (p.His784Gln) c.2066C>G (n.2066C>G) c.2169C>G (p.His723Gln) c.652C>G (n.652C>G) c.2176C>G (n.2176C>G) c.1926C>G (p.His642Gln) c.2C>G c.1402-10307C>G (n.1402-10307C>G) c.2262C>G (p.His754Gln) c.2442C>G (p.His814Gln) c.2109C>G (p.His703Gln)
7	g.117592519C>T	CA457449829	CFTR	c.2352C>T (p.His784=) c.2066C>T (n.2066C>T) c.2169C>T (p.His723=) c.652C>T (n.652C>T) c.2176C>T (n.2176C>T) c.1926C>T (p.His642=) c.2C>T c.1402-10307C>T (n.1402-10307C>T) c.2262C>T (p.His754=) c.2442C>T (p.His814=) c.2109C>T (p.His703=)
7	g.117592520C>A	CA457449830	CFTR	c.2353C>A (p.Arg785=) c.2067C>A (n.2067C>A) c.2170C>A (p.Arg724=) c.653C>A (n.653C>A) c.2177C>A (n.2177C>A) c.1927C>A (p.Arg643=) c.3C>A c.1402-10306C>A (n.1402-10306C>A) c.2263C>A (p.Arg755=) c.2443C>A (p.Arg815=) c.2110C>A (p.Arg704=)
7	g.117592520C=	CA1737395314	CFTR	c.2353C= (p.Arg785=) c.2067C= (n.2067C=) c.2170C= (p.Arg724=) c.653C= (n.653C=) c.2177C= (n.2177C=) c.1927C= (p.Arg643=) c.3C= c.1402-10306C= (n.1402-10306C=) c.2263C= (p.Arg755=) c.2443C= (p.Arg815=) c.2110C= (p.Arg704=)
7	g.117592520C>G	CA368981041	CFTR	c.2353C>G (p.Arg785Gly) c.2067C>G (n.2067C>G) c.2170C>G (p.Arg724Gly) c.653C>G (n.653C>G) c.2177C>G (n.2177C>G) c.1927C>G (p.Arg643Gly) c.3C>G c.1402-10306C>G (n.1402-10306C>G) c.2263C>G (p.Arg755Gly) c.2443C>G (p.Arg815Gly) c.2110C>G (p.Arg704Gly)	ClinVar
7	g.117592520C>T	CA326800	CFTR	c.2353C>T (p.Arg785Ter) c.2067C>T (n.2067C>T) c.2170C>T (p.Arg724Ter) c.653C>T (n.653C>T) c.2177C>T (n.2177C>T) c.1927C>T (p.Arg643Ter) c.3C>T c.1402-10306C>T (n.1402-10306C>T) c.2263C>T (p.Arg755Ter) c.2443C>T (p.Arg815Ter) c.2110C>T (p.Arg704Ter)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7	g.117592521G>A	CA4451175	CFTR	c.2354G>A (p.Arg785Gln) c.2068G>A (n.2068G>A) c.2171G>A (p.Arg724Gln) c.654G>A (n.654G>A) c.2178G>A (n.2178G>A) c.1928G>A (p.Arg643Gln) c.4G>A c.1402-10305G>A (n.1402-10305G>A) c.2264G>A (p.Arg755Gln) c.2444G>A (p.Arg815Gln) c.2111G>A (p.Arg704Gln)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7	g.117592521G>C	CA4451176	CFTR	c.2354G>C (p.Arg785Pro) c.2068G>C (n.2068G>C) c.2171G>C (p.Arg724Pro) c.654G>C (n.654G>C) c.2178G>C (n.2178G>C) c.1928G>C (p.Arg643Pro) c.4G>C c.1402-10305G>C (n.1402-10305G>C) c.2264G>C (p.Arg755Pro) c.2444G>C (p.Arg815Pro) c.2111G>C (p.Arg704Pro)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7	g.117592521G=	CA1737395323	CFTR	c.2354G= (p.Arg785=) c.2068G= (n.2068G=) c.2171G= (p.Arg724=) c.654G= (n.654G=) c.2178G= (n.2178G=) c.1928G= (p.Arg643=) c.4G= c.1402-10305G= (n.1402-10305G=) c.2264G= (p.Arg755=) c.2444G= (p.Arg815=) c.2111G= (p.Arg704=)
7	g.117592521G>T	CA368981042	CFTR	c.2354G>T (p.Arg785Leu) c.2068G>T (n.2068G>T) c.2171G>T (p.Arg724Leu) c.654G>T (n.654G>T) c.2178G>T (n.2178G>T) c.1928G>T (p.Arg643Leu) c.4G>T c.1402-10305G>T (n.1402-10305G>T) c.2264G>T (p.Arg755Leu) c.2444G>T (p.Arg815Leu) c.2111G>T (p.Arg704Leu)	ClinVar dbSNP gnomAD v4
7	g.117592521_117592528dup	CA2695208521	CFTR	c.2354_2361dup (p.Thr788GlufsTer18) c.2068_2075dup (n.2068_2075dup) c.2171_2178dup (p.Thr727GlufsTer18) c.654_661dup (n.654_661dup) c.2178_2185dup (n.2178_2185dup) c.1928_1935dup (p.Thr646GlufsTer18) c.4_11dup c.1402-10305_1402-10298dup (n.1402-10305_1402-10298dup) c.2264_2271dup (p.Thr758GlufsTer18) c.2444_2451dup (p.Thr818GlufsTer18) c.2111_2118dup (p.Thr707GlufsTer18)
7	g.117592522A>C	CA457449839	CFTR	c.2355A>C (p.Arg785=) c.2069A>C (n.2069A>C) c.2172A>C (p.Arg724=) c.655A>C (n.655A>C) c.2179A>C (n.2179A>C) c.1929A>C (p.Arg643=) c.5A>C c.1402-10304A>C (n.1402-10304A>C) c.2265A>C (p.Arg755=) c.2445A>C (p.Arg815=) c.2112A>C (p.Arg704=)
7	g.117592522A>G	CA457449840	CFTR	c.2355A>G (p.Arg785=) c.2069A>G (n.2069A>G) c.2172A>G (p.Arg724=) c.655A>G (n.655A>G) c.2179A>G (n.2179A>G) c.1929A>G (p.Arg643=) c.5A>G c.1402-10304A>G (n.1402-10304A>G) c.2265A>G (p.Arg755=) c.2445A>G (p.Arg815=) c.2112A>G (p.Arg704=)
7	g.117592522A>T	CA457449841	CFTR	c.2355A>T (p.Arg785=) c.2069A>T (n.2069A>T) c.2172A>T (p.Arg724=) c.655A>T (n.655A>T) c.2179A>T (n.2179A>T) c.1929A>T (p.Arg643=) c.5A>T c.1402-10304A>T (n.1402-10304A>T) c.2265A>T (p.Arg755=) c.2445A>T (p.Arg815=) c.2112A>T (p.Arg704=)
7	g.117592523A>C	CA368981043	CFTR	c.2356A>C (p.Lys786Gln) c.2070A>C (n.2070A>C) c.2173A>C (p.Lys725Gln) c.656A>C (n.656A>C) c.2180A>C (n.2180A>C) c.1930A>C (p.Lys644Gln) c.6A>C c.1402-10303A>C (n.1402-10303A>C) c.2266A>C (p.Lys756Gln) c.2446A>C (p.Lys816Gln) c.2113A>C (p.Lys705Gln)
7	g.117592523A>G	CA368981045	CFTR	c.2356A>G (p.Lys786Glu) c.2070A>G (n.2070A>G) c.2173A>G (p.Lys725Glu) c.656A>G (n.656A>G) c.2180A>G (n.2180A>G) c.1930A>G (p.Lys644Glu) c.6A>G c.1402-10303A>G (n.1402-10303A>G) c.2266A>G (p.Lys756Glu) c.2446A>G (p.Lys816Glu) c.2113A>G (p.Lys705Glu)
7	g.117592523A>T	CA368981044	CFTR	c.2356A>T (p.Lys786Ter) c.2070A>T (n.2070A>T) c.2173A>T (p.Lys725Ter) c.656A>T (n.656A>T) c.2180A>T (n.2180A>T) c.1930A>T (p.Lys644Ter) c.6A>T c.1402-10303A>T (n.1402-10303A>T) c.2266A>T (p.Lys756Ter) c.2446A>T (p.Lys816Ter) c.2113A>T (p.Lys705Ter)
7	g.117592524A>C	CA368981046	CFTR	c.2357A>C (p.Lys786Thr) c.2071A>C (n.2071A>C) c.2174A>C (p.Lys725Thr) c.657A>C (n.657A>C) c.2181A>C (n.2181A>C) c.1931A>C (p.Lys644Thr) c.7A>C c.1402-10302A>C (n.1402-10302A>C) c.2267A>C (p.Lys756Thr) c.2447A>C (p.Lys816Thr) c.2114A>C (p.Lys705Thr)
7	g.117592524A>G	CA368981047	CFTR	c.2357A>G (p.Lys786Arg) c.2071A>G (n.2071A>G) c.2174A>G (p.Lys725Arg) c.657A>G (n.657A>G) c.2181A>G (n.2181A>G) c.1931A>G (p.Lys644Arg) c.7A>G c.1402-10302A>G (n.1402-10302A>G) c.2267A>G (p.Lys756Arg) c.2447A>G (p.Lys816Arg) c.2114A>G (p.Lys705Arg)
7	g.117592524A>T	CA368981048	CFTR	c.2357A>T (p.Lys786Met) c.2071A>T (n.2071A>T) c.2174A>T (p.Lys725Met) c.657A>T (n.657A>T) c.2181A>T (n.2181A>T) c.1931A>T (p.Lys644Met) c.7A>T c.1402-10302A>T (n.1402-10302A>T) c.2267A>T (p.Lys756Met) c.2447A>T (p.Lys816Met) c.2114A>T (p.Lys705Met)
7	g.117592525G>A	CA457449854	CFTR	c.2358G>A (p.Lys786=) c.2072G>A (n.2072G>A) c.2175G>A (p.Lys725=) c.658G>A (n.658G>A) c.2182G>A (n.2182G>A) c.1932G>A (p.Lys644=) c.8G>A c.1402-10301G>A (n.1402-10301G>A) c.2268G>A (p.Lys756=) c.2448G>A (p.Lys816=) c.2115G>A (p.Lys705=)	dbSNP
7	g.117592525G>C	CA4451177	CFTR	c.2358G>C (p.Lys786Asn) c.2072G>C (n.2072G>C) c.2175G>C (p.Lys725Asn) c.658G>C (n.658G>C) c.2182G>C (n.2182G>C) c.1932G>C (p.Lys644Asn) c.8G>C c.1402-10301G>C (n.1402-10301G>C) c.2268G>C (p.Lys756Asn) c.2448G>C (p.Lys816Asn) c.2115G>C (p.Lys705Asn)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7	g.117592525G=	CA1737395330	CFTR	c.2358G= (p.Lys786=) c.2072G= (n.2072G=) c.2175G= (p.Lys725=) c.658G= (n.658G=) c.2182G= (n.2182G=) c.1932G= (p.Lys644=) c.8G= c.1402-10301G= (n.1402-10301G=) c.2268G= (p.Lys756=) c.2448G= (p.Lys816=) c.2115G= (p.Lys705=)
7	g.117592525G>T	CA368981049	CFTR	c.2358G>T (p.Lys786Asn) c.2072G>T (n.2072G>T) c.2175G>T (p.Lys725Asn) c.658G>T (n.658G>T) c.2182G>T (n.2182G>T) c.1932G>T (p.Lys644Asn) c.8G>T c.1402-10301G>T (n.1402-10301G>T) c.2268G>T (p.Lys756Asn) c.2448G>T (p.Lys816Asn) c.2115G>T (p.Lys705Asn)	gnomAD v4
7	g.117592526A>C	CA368981052	CFTR	c.2359A>C (p.Thr787Pro) c.2073A>C (n.2073A>C) c.2176A>C (p.Thr726Pro) c.659A>C (n.659A>C) c.2183A>C (n.2183A>C) c.1933A>C (p.Thr645Pro) c.9A>C c.1402-10300A>C (n.1402-10300A>C) c.2269A>C (p.Thr757Pro) c.2449A>C (p.Thr817Pro) c.2116A>C (p.Thr706Pro)
7	g.117592526A>G	CA368981051	CFTR	c.2359A>G (p.Thr787Ala) c.2073A>G (n.2073A>G) c.2176A>G (p.Thr726Ala) c.659A>G (n.659A>G) c.2183A>G (n.2183A>G) c.1933A>G (p.Thr645Ala) c.9A>G c.1402-10300A>G (n.1402-10300A>G) c.2269A>G (p.Thr757Ala) c.2449A>G (p.Thr817Ala) c.2116A>G (p.Thr706Ala)
7	g.117592526A>T	CA368981050	CFTR	c.2359A>T (p.Thr787Ser) c.2073A>T (n.2073A>T) c.2176A>T (p.Thr726Ser) c.659A>T (n.659A>T) c.2183A>T (n.2183A>T) c.1933A>T (p.Thr645Ser) c.9A>T c.1402-10300A>T (n.1402-10300A>T) c.2269A>T (p.Thr757Ser) c.2449A>T (p.Thr817Ser) c.2116A>T (p.Thr706Ser)
7	g.117592527C>A	CA368981053	CFTR	c.2360C>A (p.Thr787Lys) c.2074C>A (n.2074C>A) c.2177C>A (p.Thr726Lys) c.660C>A (n.660C>A) c.2184C>A (n.2184C>A) c.1934C>A (p.Thr645Lys) c.10C>A c.1402-10299C>A (n.1402-10299C>A) c.2270C>A (p.Thr757Lys) c.2450C>A (p.Thr817Lys) c.2117C>A (p.Thr706Lys)	ClinVar dbSNP gnomAD v4
7	g.117592527C>G	CA368981054	CFTR	c.2360C>G (p.Thr787Arg) c.2074C>G (n.2074C>G) c.2177C>G (p.Thr726Arg) c.660C>G (n.660C>G) c.2184C>G (n.2184C>G) c.1934C>G (p.Thr645Arg) c.10C>G c.1402-10299C>G (n.1402-10299C>G) c.2270C>G (p.Thr757Arg) c.2450C>G (p.Thr817Arg) c.2117C>G (p.Thr706Arg)
7	g.117592527C>T	CA368981055	CFTR	c.2360C>T (p.Thr787Ile) c.2074C>T (n.2074C>T) c.2177C>T (p.Thr726Ile) c.660C>T (n.660C>T) c.2184C>T (n.2184C>T) c.1934C>T (p.Thr645Ile) c.10C>T c.1402-10299C>T (n.1402-10299C>T) c.2270C>T (p.Thr757Ile) c.2450C>T (p.Thr817Ile) c.2117C>T (p.Thr706Ile)	gnomAD v4
7	g.117592528A>C	CA457449862	CFTR	c.2361A>C (p.Thr787=) c.2075A>C (n.2075A>C) c.2178A>C (p.Thr726=) c.661A>C (n.661A>C) c.2185A>C (n.2185A>C) c.1935A>C (p.Thr645=) c.11A>C c.1402-10298A>C (n.1402-10298A>C) c.2271A>C (p.Thr757=) c.2451A>C (p.Thr817=) c.2118A>C (p.Thr706=)
7	g.117592528A>G	CA457449864	CFTR	c.2361A>G (p.Thr787=) c.2075A>G (n.2075A>G) c.2178A>G (p.Thr726=) c.661A>G (n.661A>G) c.2185A>G (n.2185A>G) c.1935A>G (p.Thr645=) c.11A>G c.1402-10298A>G (n.1402-10298A>G) c.2271A>G (p.Thr757=) c.2451A>G (p.Thr817=) c.2118A>G (p.Thr706=)
7	g.117592528A>T	CA457449865	CFTR	c.2361A>T (p.Thr787=) c.2075A>T (n.2075A>T) c.2178A>T (p.Thr726=) c.661A>T (n.661A>T) c.2185A>T (n.2185A>T) c.1935A>T (p.Thr645=) c.11A>T c.1402-10298A>T (n.1402-10298A>T) c.2271A>T (p.Thr757=) c.2451A>T (p.Thr817=) c.2118A>T (p.Thr706=)
7	g.117592529A>C	CA368981056	CFTR	c.2362A>C (p.Thr788Pro) c.2076A>C (n.2076A>C) c.2179A>C (p.Thr727Pro) c.662A>C (n.662A>C) c.2186A>C (n.2186A>C) c.1936A>C (p.Thr646Pro) c.12A>C c.1402-10297A>C (n.1402-10297A>C) c.2272A>C (p.Thr758Pro) c.2452A>C (p.Thr818Pro) c.2119A>C (p.Thr707Pro)
7	g.117592529A>G	CA368981057	CFTR	c.2362A>G (p.Thr788Ala) c.2076A>G (n.2076A>G) c.2179A>G (p.Thr727Ala) c.662A>G (n.662A>G) c.2186A>G (n.2186A>G) c.1936A>G (p.Thr646Ala) c.12A>G c.1402-10297A>G (n.1402-10297A>G) c.2272A>G (p.Thr758Ala) c.2452A>G (p.Thr818Ala) c.2119A>G (p.Thr707Ala)	gnomAD v4
7	g.117592529A>T	CA368981058	CFTR	c.2362A>T (p.Thr788Ser) c.2076A>T (n.2076A>T) c.2179A>T (p.Thr727Ser) c.662A>T (n.662A>T) c.2186A>T (n.2186A>T) c.1936A>T (p.Thr646Ser) c.12A>T c.1402-10297A>T (n.1402-10297A>T) c.2272A>T (p.Thr758Ser) c.2452A>T (p.Thr818Ser) c.2119A>T (p.Thr707Ser)
7	g.117592530C>A	CA368981061	CFTR	c.2363C>A (p.Thr788Lys) c.2077C>A (n.2077C>A) c.2180C>A (p.Thr727Lys) c.663C>A (n.663C>A) c.2187C>A (n.2187C>A) c.1937C>A (p.Thr646Lys) c.13C>A c.1402-10296C>A (n.1402-10296C>A) c.2273C>A (p.Thr758Lys) c.2453C>A (p.Thr818Lys) c.2120C>A (p.Thr707Lys)	dbSNP gnomAD v4 COSMIC
7	g.117592530C=	CA1737395332	CFTR	c.2363C= (p.Thr788=) c.2077C= (n.2077C=) c.2180C= (p.Thr727=) c.663C= (n.663C=) c.2187C= (n.2187C=) c.1937C= (p.Thr646=) c.13C= c.1402-10296C= (n.1402-10296C=) c.2273C= (p.Thr758=) c.2453C= (p.Thr818=) c.2120C= (p.Thr707=)
7	g.117592530C>G	CA368981059	CFTR	c.2363C>G (p.Thr788Arg) c.2077C>G (n.2077C>G) c.2180C>G (p.Thr727Arg) c.663C>G (n.663C>G) c.2187C>G (n.2187C>G) c.1937C>G (p.Thr646Arg) c.13C>G c.1402-10296C>G (n.1402-10296C>G) c.2273C>G (p.Thr758Arg) c.2453C>G (p.Thr818Arg) c.2120C>G (p.Thr707Arg)
7	g.117592530C>T	CA368981060	CFTR	c.2363C>T (p.Thr788Ile) c.2077C>T (n.2077C>T) c.2180C>T (p.Thr727Ile) c.663C>T (n.663C>T) c.2187C>T (n.2187C>T) c.1937C>T (p.Thr646Ile) c.13C>T c.1402-10296C>T (n.1402-10296C>T) c.2273C>T (p.Thr758Ile) c.2453C>T (p.Thr818Ile) c.2120C>T (p.Thr707Ile)	ClinVar
7	g.117592531A>C	CA457449871	CFTR	c.2364A>C (p.Thr788=) c.2078A>C (n.2078A>C) c.2181A>C (p.Thr727=) c.664A>C (n.664A>C) c.2188A>C (n.2188A>C) c.1938A>C (p.Thr646=) c.14A>C c.1402-10295A>C (n.1402-10295A>C) c.2274A>C (p.Thr758=) c.2454A>C (p.Thr818=) c.2121A>C (p.Thr707=)
7	g.117592531A>G	CA457449870	CFTR	c.2364A>G (p.Thr788=) c.2078A>G (n.2078A>G) c.2181A>G (p.Thr727=) c.664A>G (n.664A>G) c.2188A>G (n.2188A>G) c.1938A>G (p.Thr646=) c.14A>G c.1402-10295A>G (n.1402-10295A>G) c.2274A>G (p.Thr758=) c.2454A>G (p.Thr818=) c.2121A>G (p.Thr707=)	gnomAD v4
7	g.117592531A>T	CA457449869	CFTR	c.2364A>T (p.Thr788=) c.2078A>T (n.2078A>T) c.2181A>T (p.Thr727=) c.664A>T (n.664A>T) c.2188A>T (n.2188A>T) c.1938A>T (p.Thr646=) c.14A>T c.1402-10295A>T (n.1402-10295A>T) c.2274A>T (p.Thr758=) c.2454A>T (p.Thr818=) c.2121A>T (p.Thr707=)
7	g.117592532G>A	CA368981062	CFTR	c.2365G>A (p.Ala789Thr) c.2079G>A (n.2079G>A) c.2182G>A (p.Ala728Thr) c.665G>A (n.665G>A) c.2189G>A (n.2189G>A) c.1939G>A (p.Ala647Thr) c.15G>A c.1402-10294G>A (n.1402-10294G>A) c.2275G>A (p.Ala759Thr) c.2455G>A (p.Ala819Thr) c.2122G>A (p.Ala708Thr)	dbSNP
7	g.117592532G>C	CA368981063	CFTR	c.2365G>C (p.Ala789Pro) c.2079G>C (n.2079G>C) c.2182G>C (p.Ala728Pro) c.665G>C (n.665G>C) c.2189G>C (n.2189G>C) c.1939G>C (p.Ala647Pro) c.15G>C c.1402-10294G>C (n.1402-10294G>C) c.2275G>C (p.Ala759Pro) c.2455G>C (p.Ala819Pro) c.2122G>C (p.Ala708Pro)
7	g.117592532G=	CA1737395334	CFTR	c.2365G= (p.Ala789=) c.2079G= (n.2079G=) c.2182G= (p.Ala728=) c.665G= (n.665G=) c.2189G= (n.2189G=) c.1939G= (p.Ala647=) c.15G= c.1402-10294G= (n.1402-10294G=) c.2275G= (p.Ala759=) c.2455G= (p.Ala819=) c.2122G= (p.Ala708=)
7	g.117592532G>T	CA368981064	CFTR	c.2365G>T (p.Ala789Ser) c.2079G>T (n.2079G>T) c.2182G>T (p.Ala728Ser) c.665G>T (n.665G>T) c.2189G>T (n.2189G>T) c.1939G>T (p.Ala647Ser) c.15G>T c.1402-10294G>T (n.1402-10294G>T) c.2275G>T (p.Ala759Ser) c.2455G>T (p.Ala819Ser) c.2122G>T (p.Ala708Ser)	COSMIC
7	g.117592533C>A	CA368981065	CFTR	c.2366C>A (p.Ala789Glu) c.2080C>A (n.2080C>A) c.2183C>A (p.Ala728Glu) c.666C>A (n.666C>A) c.2190C>A (n.2190C>A) c.1940C>A (p.Ala647Glu) c.16C>A c.1402-10293C>A (n.1402-10293C>A) c.2276C>A (p.Ala759Glu) c.2456C>A (p.Ala819Glu) c.2123C>A (p.Ala708Glu)	gnomAD v4
7	g.117592533C>G	CA368981066	CFTR	c.2366C>G (p.Ala789Gly) c.2080C>G (n.2080C>G) c.2183C>G (p.Ala728Gly) c.666C>G (n.666C>G) c.2190C>G (n.2190C>G) c.1940C>G (p.Ala647Gly) c.16C>G c.1402-10293C>G (n.1402-10293C>G) c.2276C>G (p.Ala759Gly) c.2456C>G (p.Ala819Gly) c.2123C>G (p.Ala708Gly)
7	g.117592533C>T	CA368981067	CFTR	c.2366C>T (p.Ala789Val) c.2080C>T (n.2080C>T) c.2183C>T (p.Ala728Val) c.666C>T (n.666C>T) c.2190C>T (n.2190C>T) c.1940C>T (p.Ala647Val) c.16C>T c.1402-10293C>T (n.1402-10293C>T) c.2276C>T (p.Ala759Val) c.2456C>T (p.Ala819Val) c.2123C>T (p.Ala708Val)	gnomAD v4
7	g.117592534A>C	CA457449880	CFTR	c.2367A>C (p.Ala789=) c.2081A>C (n.2081A>C) c.2184A>C (p.Ala728=) c.667A>C (n.667A>C) c.2191A>C (n.2191A>C) c.1941A>C (p.Ala647=) c.17A>C c.1402-10292A>C (n.1402-10292A>C) c.2277A>C (p.Ala759=) c.2457A>C (p.Ala819=) c.2124A>C (p.Ala708=)
7	g.117592534A>G	CA457449881	CFTR	c.2367A>G (p.Ala789=) c.2081A>G (n.2081A>G) c.2184A>G (p.Ala728=) c.667A>G (n.667A>G) c.2191A>G (n.2191A>G) c.1941A>G (p.Ala647=) c.17A>G c.1402-10292A>G (n.1402-10292A>G) c.2277A>G (p.Ala759=) c.2457A>G (p.Ala819=) c.2124A>G (p.Ala708=)
7	g.117592534A>T	CA457449882	CFTR	c.2367A>T (p.Ala789=) c.2081A>T (n.2081A>T) c.2184A>T (p.Ala728=) c.667A>T (n.667A>T) c.2191A>T (n.2191A>T) c.1941A>T (p.Ala647=) c.17A>T c.1402-10292A>T (n.1402-10292A>T) c.2277A>T (p.Ala759=) c.2457A>T (p.Ala819=) c.2124A>T (p.Ala708=)
7	g.117592535T>A	CA368981068	CFTR	c.2368T>A (p.Ser790Thr) c.2082T>A (n.2082T>A) c.2185T>A (p.Ser729Thr) c.668T>A (n.668T>A) c.2192T>A (n.2192T>A) c.1942T>A (p.Ser648Thr) c.18T>A c.1402-10291T>A (n.1402-10291T>A) c.2278T>A (p.Ser760Thr) c.2458T>A (p.Ser820Thr) c.2125T>A (p.Ser709Thr)
7	g.117592535T>C	CA368981069	CFTR	c.2368T>C (p.Ser790Pro) c.2082T>C (n.2082T>C) c.2185T>C (p.Ser729Pro) c.668T>C (n.668T>C) c.2192T>C (n.2192T>C) c.1942T>C (p.Ser648Pro) c.18T>C c.1402-10291T>C (n.1402-10291T>C) c.2278T>C (p.Ser760Pro) c.2458T>C (p.Ser820Pro) c.2125T>C (p.Ser709Pro)
7	g.117592535T>G	CA368981070	CFTR	c.2368T>G (p.Ser790Ala) c.2082T>G (n.2082T>G) c.2185T>G (p.Ser729Ala) c.668T>G (n.668T>G) c.2192T>G (n.2192T>G) c.1942T>G (p.Ser648Ala) c.18T>G c.1402-10291T>G (n.1402-10291T>G) c.2278T>G (p.Ser760Ala) c.2458T>G (p.Ser820Ala) c.2125T>G (p.Ser709Ala)
7	g.117592536C>A	CA368981071	CFTR	c.2369C>A (p.Ser790Tyr) c.2083C>A (n.2083C>A) c.2186C>A (p.Ser729Tyr) c.669C>A (n.669C>A) c.2193C>A (n.2193C>A) c.1943C>A (p.Ser648Tyr) c.19C>A c.1402-10290C>A (n.1402-10290C>A) c.2279C>A (p.Ser760Tyr) c.2459C>A (p.Ser820Tyr) c.2126C>A (p.Ser709Tyr)
7	g.117592536C>G	CA368981072	CFTR	c.2369C>G (p.Ser790Cys) c.2083C>G (n.2083C>G) c.2186C>G (p.Ser729Cys) c.669C>G (n.669C>G) c.2193C>G (n.2193C>G) c.1943C>G (p.Ser648Cys) c.19C>G c.1402-10290C>G (n.1402-10290C>G) c.2279C>G (p.Ser760Cys) c.2459C>G (p.Ser820Cys) c.2126C>G (p.Ser709Cys)
7	g.117592536C>T	CA368981073	CFTR	c.2369C>T (p.Ser790Phe) c.2083C>T (n.2083C>T) c.2186C>T (p.Ser729Phe) c.669C>T (n.669C>T) c.2193C>T (n.2193C>T) c.1943C>T (p.Ser648Phe) c.19C>T c.1402-10290C>T (n.1402-10290C>T) c.2279C>T (p.Ser760Phe) c.2459C>T (p.Ser820Phe) c.2126C>T (p.Ser709Phe)	gnomAD v4
7	g.117592537C>A	CA457449888	CFTR	c.2370C>A (p.Ser790=) c.2084C>A (n.2084C>A) c.2187C>A (p.Ser729=) c.670C>A (n.670C>A) c.2194C>A (n.2194C>A) c.1944C>A (p.Ser648=) c.20C>A c.1402-10289C>A (n.1402-10289C>A) c.2280C>A (p.Ser760=) c.2460C>A (p.Ser820=) c.2127C>A (p.Ser709=)
7	g.117592537C>G	CA457449889	CFTR	c.2370C>G (p.Ser790=) c.2084C>G (n.2084C>G) c.2187C>G (p.Ser729=) c.670C>G (n.670C>G) c.2194C>G (n.2194C>G) c.1944C>G (p.Ser648=) c.20C>G c.1402-10289C>G (n.1402-10289C>G) c.2280C>G (p.Ser760=) c.2460C>G (p.Ser820=) c.2127C>G (p.Ser709=)
7	g.117592537C>T	CA457449892	CFTR	c.2370C>T (p.Ser790=) c.2084C>T (n.2084C>T) c.2187C>T (p.Ser729=) c.670C>T (n.670C>T) c.2194C>T (n.2194C>T) c.1944C>T (p.Ser648=) c.20C>T c.1402-10289C>T (n.1402-10289C>T) c.2280C>T (p.Ser760=) c.2460C>T (p.Ser820=) c.2127C>T (p.Ser709=)
7	g.117592537_117592543delinsCACACGA	CA1737395339	CFTR	c.2370_2376delinsCACACGA (p.Ser790=) c.2084_2090delinsCACACGA (n.2084_2090delinsCACACGA) c.2187_2193delinsCACACGA (p.Ser729=) c.670_676delinsCACACGA (n.670_676delinsCACACGA) c.2194_2200delinsCACACGA (n.2194_2200delinsCACACGA) c.1944_1950delinsCACACGA (p.Ser648=) c.20_26delinsCACACGA c.1402-10289_1402-10283delinsCACACGA (n.1402-10289_1402-10283delinsCACACGA) c.2280_2286delinsCACACGA (p.Ser760=) c.2460_2466delinsCACACGA (p.Ser820=) c.2127_2133delinsCACACGA (p.Ser709=)
7	g.117592538A>C	CA368981074	CFTR	c.2371A>C (p.Thr791Pro) c.2085A>C (n.2085A>C) c.2188A>C (p.Thr730Pro) c.671A>C (n.671A>C) c.2195A>C (n.2195A>C) c.1945A>C (p.Thr649Pro) c.21A>C c.1402-10288A>C (n.1402-10288A>C) c.2281A>C (p.Thr761Pro) c.2461A>C (p.Thr821Pro) c.2128A>C (p.Thr710Pro)
7	g.117592538A>G	CA368981076	CFTR	c.2371A>G (p.Thr791Ala) c.2085A>G (n.2085A>G) c.2188A>G (p.Thr730Ala) c.671A>G (n.671A>G) c.2195A>G (n.2195A>G) c.1945A>G (p.Thr649Ala) c.21A>G c.1402-10288A>G (n.1402-10288A>G) c.2281A>G (p.Thr761Ala) c.2461A>G (p.Thr821Ala) c.2128A>G (p.Thr710Ala)
7	g.117592538A>T	CA368981075	CFTR	c.2371A>T (p.Thr791Ser) c.2085A>T (n.2085A>T) c.2188A>T (p.Thr730Ser) c.671A>T (n.671A>T) c.2195A>T (n.2195A>T) c.1945A>T (p.Thr649Ser) c.21A>T c.1402-10288A>T (n.1402-10288A>T) c.2281A>T (p.Thr761Ser) c.2461A>T (p.Thr821Ser) c.2128A>T (p.Thr710Ser)
7	g.117592539_117592544del	CA913190195	CFTR	c.2372_2377del (p.Thr791_Arg792del) c.2086_2091del (n.2086_2091del) c.2189_2194del (p.Thr730_Arg731del) c.672_677del (n.672_677del) c.2196_2201del (n.2196_2201del) c.1946_1951del (p.Thr649_Arg650del) c.22_27del c.1402-10287_1402-10282del (n.1402-10287_1402-10282del) c.2282_2287del (p.Thr761_Arg762del) c.2462_2467del (p.Thr821_Arg822del) c.2129_2134del (p.Thr710_Arg711del)	ClinVar dbSNP
7	g.117592539C>A	CA368981077	CFTR	c.2372C>A (p.Thr791Lys) c.2086C>A (n.2086C>A) c.2189C>A (p.Thr730Lys) c.672C>A (n.672C>A) c.2196C>A (n.2196C>A) c.1946C>A (p.Thr649Lys) c.22C>A c.1402-10287C>A (n.1402-10287C>A) c.2282C>A (p.Thr761Lys) c.2462C>A (p.Thr821Lys) c.2129C>A (p.Thr710Lys)
7	g.117592539C=	CA1737395348	CFTR	c.2372C= (p.Thr791=) c.2086C= (n.2086C=) c.2189C= (p.Thr730=) c.672C= (n.672C=) c.2196C= (n.2196C=) c.1946C= (p.Thr649=) c.22C= c.1402-10287C= (n.1402-10287C=) c.2282C= (p.Thr761=) c.2462C= (p.Thr821=) c.2129C= (p.Thr710=)
7	g.117592539C>G	CA368981078	CFTR	c.2372C>G (p.Thr791Arg) c.2086C>G (n.2086C>G) c.2189C>G (p.Thr730Arg) c.672C>G (n.672C>G) c.2196C>G (n.2196C>G) c.1946C>G (p.Thr649Arg) c.22C>G c.1402-10287C>G (n.1402-10287C>G) c.2282C>G (p.Thr761Arg) c.2462C>G (p.Thr821Arg) c.2129C>G (p.Thr710Arg)
7	g.117592539C>T	CA368981079	CFTR	c.2372C>T (p.Thr791Ile) c.2086C>T (n.2086C>T) c.2189C>T (p.Thr730Ile) c.672C>T (n.672C>T) c.2196C>T (n.2196C>T) c.1946C>T (p.Thr649Ile) c.22C>T c.1402-10287C>T (n.1402-10287C>T) c.2282C>T (p.Thr761Ile) c.2462C>T (p.Thr821Ile) c.2129C>T (p.Thr710Ile)	dbSNP
7	g.117592539_117592540delinsCA	CA1737395346	CFTR	c.2372_2373delinsCA (p.Thr791=) c.2086_2087delinsCA (n.2086_2087delinsCA) c.2189_2190delinsCA (p.Thr730=) c.672_673delinsCA (n.672_673delinsCA) c.2196_2197delinsCA (n.2196_2197delinsCA) c.1946_1947delinsCA (p.Thr649=) c.22_23delinsCA c.1402-10287_1402-10286delinsCA (n.1402-10287_1402-10286delinsCA) c.2282_2283delinsCA (p.Thr761=) c.2462_2463delinsCA (p.Thr821=) c.2129_2130delinsCA (p.Thr710=)
7	g.117592540del	CA915945427	CFTR	c.2373del (p.Arg792GlufsTer11) c.2087del (n.2087del) c.2190del (p.Arg731GlufsTer11) c.673del (n.673del) c.2197del (n.2197del) c.1947del (p.Arg650GlufsTer11) c.23del c.1402-10286del (n.1402-10286del) c.2283del (p.Arg762GlufsTer11) c.2463del (p.Arg822GlufsTer11) c.2130del (p.Arg711GlufsTer11)	ClinVar dbSNP
7	g.117592540A=	CA1737395358	CFTR	c.2373A= (p.Thr791=) c.2087A= (n.2087A=) c.2190A= (p.Thr730=) c.673A= (n.673A=) c.2197A= (n.2197A=) c.1947A= (p.Thr649=) c.23A= c.1402-10286A= (n.1402-10286A=) c.2283A= (p.Thr761=) c.2463A= (p.Thr821=) c.2130A= (p.Thr710=)
7	g.117592540A>C	CA457449909	CFTR	c.2373A>C (p.Thr791=) c.2087A>C (n.2087A>C) c.2190A>C (p.Thr730=) c.673A>C (n.673A>C) c.2197A>C (n.2197A>C) c.1947A>C (p.Thr649=) c.23A>C c.1402-10286A>C (n.1402-10286A>C) c.2283A>C (p.Thr761=) c.2463A>C (p.Thr821=) c.2130A>C (p.Thr710=)	ClinVar dbSNP gnomAD v2 gnomAD v4
7	g.117592540A>G	CA164948251	CFTR	c.2373A>G (p.Thr791=) c.2087A>G (n.2087A>G) c.2190A>G (p.Thr730=) c.673A>G (n.673A>G) c.2197A>G (n.2197A>G) c.1947A>G (p.Thr649=) c.23A>G c.1402-10286A>G (n.1402-10286A>G) c.2283A>G (p.Thr761=) c.2463A>G (p.Thr821=) c.2130A>G (p.Thr710=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
7	g.117592540A>T	CA457449911	CFTR	c.2373A>T (p.Thr791=) c.2087A>T (n.2087A>T) c.2190A>T (p.Thr730=) c.673A>T (n.673A>T) c.2197A>T (n.2197A>T) c.1947A>T (p.Thr649=) c.23A>T c.1402-10286A>T (n.1402-10286A>T) c.2283A>T (p.Thr761=) c.2463A>T (p.Thr821=) c.2130A>T (p.Thr710=)
7	g.117592540_117592544delinsCC	CA2580614249	CFTR	c.2373_2377delinsCC (p.Arg792_Lys793delinsGln) c.2087_2091delinsCC (n.2087_2091delinsCC) c.2190_2194delinsCC (p.Arg731_Lys732delinsGln) c.673_677delinsCC (n.673_677delinsCC) c.2197_2201delinsCC (n.2197_2201delinsCC) c.1947_1951delinsCC (p.Arg650_Lys651delinsGln) c.23_27delinsCC c.1402-10286_1402-10282delinsCC (n.1402-10286_1402-10282delinsCC) c.2283_2287delinsCC (p.Arg762_Lys763delinsGln) c.2463_2467delinsCC (p.Arg822_Lys823delinsGln) c.2130_2134delinsCC (p.Arg711_Lys712delinsGln)	ClinVar
7	g.117592541C>A	CA457449914	CFTR	c.2374C>A (p.Arg792=) c.2088C>A (n.2088C>A) c.2191C>A (p.Arg731=) c.674C>A (n.674C>A) c.2198C>A (n.2198C>A) c.1948C>A (p.Arg650=) c.24C>A c.1402-10285C>A (n.1402-10285C>A) c.2284C>A (p.Arg762=) c.2464C>A (p.Arg822=) c.2131C>A (p.Arg711=)	ClinVar
7	g.117592541C=	CA1737395455	CFTR	c.2374C= (p.Arg792=) c.2088C= (n.2088C=) c.2191C= (p.Arg731=) c.674C= (n.674C=) c.2198C= (n.2198C=) c.1948C= (p.Arg650=) c.24C= c.1402-10285C= (n.1402-10285C=) c.2284C= (p.Arg762=) c.2464C= (p.Arg822=) c.2131C= (p.Arg711=)
7	g.117592541C>G	CA326806	CFTR	c.2374C>G (p.Arg792Gly) c.2088C>G (n.2088C>G) c.2191C>G (p.Arg731Gly) c.674C>G (n.674C>G) c.2198C>G (n.2198C>G) c.1948C>G (p.Arg650Gly) c.24C>G c.1402-10285C>G (n.1402-10285C>G) c.2284C>G (p.Arg762Gly) c.2464C>G (p.Arg822Gly) c.2131C>G (p.Arg711Gly)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7	g.117592541C>T	CA326807	CFTR	c.2374C>T (p.Arg792Ter) c.2088C>T (n.2088C>T) c.2191C>T (p.Arg731Ter) c.674C>T (n.674C>T) c.2198C>T (n.2198C>T) c.1948C>T (p.Arg650Ter) c.24C>T c.1402-10285C>T (n.1402-10285C>T) c.2284C>T (p.Arg762Ter) c.2464C>T (p.Arg822Ter) c.2131C>T (p.Arg711Ter)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7	g.117592542G>A	CA4451178	CFTR	c.2375G>A (p.Arg792Gln) c.2089G>A (n.2089G>A) c.2192G>A (p.Arg731Gln) c.675G>A (n.675G>A) c.2199G>A (n.2199G>A) c.1949G>A (p.Arg650Gln) c.25G>A c.1402-10284G>A (n.1402-10284G>A) c.2285G>A (p.Arg762Gln) c.2465G>A (p.Arg822Gln) c.2132G>A (p.Arg711Gln)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7	g.117592542G>C	CA368981080	CFTR	c.2375G>C (p.Arg792Pro) c.2089G>C (n.2089G>C) c.2192G>C (p.Arg731Pro) c.675G>C (n.675G>C) c.2199G>C (n.2199G>C) c.1949G>C (p.Arg650Pro) c.25G>C c.1402-10284G>C (n.1402-10284G>C) c.2285G>C (p.Arg762Pro) c.2465G>C (p.Arg822Pro) c.2132G>C (p.Arg711Pro)
7	g.117592542G=	CA1737395468	CFTR	c.2375G= (p.Arg792=) c.2089G= (n.2089G=) c.2192G= (p.Arg731=) c.675G= (n.675G=) c.2199G= (n.2199G=) c.1949G= (p.Arg650=) c.25G= c.1402-10284G= (n.1402-10284G=) c.2285G= (p.Arg762=) c.2465G= (p.Arg822=) c.2132G= (p.Arg711=)
7	g.117592542G>T	CA368981081	CFTR	c.2375G>T (p.Arg792Leu) c.2089G>T (n.2089G>T) c.2192G>T (p.Arg731Leu) c.675G>T (n.675G>T) c.2199G>T (n.2199G>T) c.1949G>T (p.Arg650Leu) c.25G>T c.1402-10284G>T (n.1402-10284G>T) c.2285G>T (p.Arg762Leu) c.2465G>T (p.Arg822Leu) c.2132G>T (p.Arg711Leu)
7	g.117592542_117592544del	CA577680773	CFTR	c.2375_2377del (p.Arg792_Lys793delinsGln) c.2089_2091del (n.2089_2091del) c.2192_2194del (p.Arg731_Lys732delinsGln) c.675_677del (n.675_677del) c.2199_2201del (n.2199_2201del) c.1949_1951del (p.Arg650_Lys651delinsGln) c.25_27del c.1402-10284_1402-10282del (n.1402-10284_1402-10282del) c.2285_2287del (p.Arg762_Lys763delinsGln) c.2465_2467del (p.Arg822_Lys823delinsGln) c.2132_2134del (p.Arg711_Lys712delinsGln)	ClinVar gnomAD v2 gnomAD v4
7	g.117592543A>C	CA457449919	CFTR	c.2376A>C (p.Arg792=) c.2090A>C (n.2090A>C) c.2193A>C (p.Arg731=) c.676A>C (n.676A>C) c.2200A>C (n.2200A>C) c.1950A>C (p.Arg650=) c.26A>C c.1402-10283A>C (n.1402-10283A>C) c.2286A>C (p.Arg762=) c.2466A>C (p.Arg822=) c.2133A>C (p.Arg711=)
7	g.117592543A>G	CA457449920	CFTR	c.2376A>G (p.Arg792=) c.2090A>G (n.2090A>G) c.2193A>G (p.Arg731=) c.676A>G (n.676A>G) c.2200A>G (n.2200A>G) c.1950A>G (p.Arg650=) c.26A>G c.1402-10283A>G (n.1402-10283A>G) c.2286A>G (p.Arg762=) c.2466A>G (p.Arg822=) c.2133A>G (p.Arg711=)
7	g.117592543A>T	CA457449922	CFTR	c.2376A>T (p.Arg792=) c.2090A>T (n.2090A>T) c.2193A>T (p.Arg731=) c.676A>T (n.676A>T) c.2200A>T (n.2200A>T) c.1950A>T (p.Arg650=) c.26A>T c.1402-10283A>T (n.1402-10283A>T) c.2286A>T (p.Arg762=) c.2466A>T (p.Arg822=) c.2133A>T (p.Arg711=)
7	g.117592546del	CA2580076555	CFTR	c.2379del (p.Val794CysfsTer9) c.2093del (n.2093del) c.2196del (p.Val733CysfsTer9) c.679del (n.679del) c.2203del (n.2203del) c.1953del (p.Val652CysfsTer9) c.29del c.1402-10280del (n.1402-10280del) c.2289del (p.Val764CysfsTer9) c.2469del (p.Val824CysfsTer9) c.2136del (p.Val713CysfsTer9)	ClinVar
7	g.117592544A>C	CA368981082	CFTR	c.2377A>C (p.Lys793Gln) c.2091A>C (n.2091A>C) c.2194A>C (p.Lys732Gln) c.677A>C (n.677A>C) c.2201A>C (n.2201A>C) c.1951A>C (p.Lys651Gln) c.27A>C c.1402-10282A>C (n.1402-10282A>C) c.2287A>C (p.Lys763Gln) c.2467A>C (p.Lys823Gln) c.2134A>C (p.Lys712Gln)
7	g.117592544A>G	CA368981083	CFTR	c.2377A>G (p.Lys793Glu) c.2091A>G (n.2091A>G) c.2194A>G (p.Lys732Glu) c.677A>G (n.677A>G) c.2201A>G (n.2201A>G) c.1951A>G (p.Lys651Glu) c.27A>G c.1402-10282A>G (n.1402-10282A>G) c.2287A>G (p.Lys763Glu) c.2467A>G (p.Lys823Glu) c.2134A>G (p.Lys712Glu)
7	g.117592544A>T	CA368981084	CFTR	c.2377A>T (p.Lys793Ter) c.2091A>T (n.2091A>T) c.2194A>T (p.Lys732Ter) c.677A>T (n.677A>T) c.2201A>T (n.2201A>T) c.1951A>T (p.Lys651Ter) c.27A>T c.1402-10282A>T (n.1402-10282A>T) c.2287A>T (p.Lys763Ter) c.2467A>T (p.Lys823Ter) c.2134A>T (p.Lys712Ter)
7	g.117592545A>C	CA368981087	CFTR	c.2378A>C (p.Lys793Thr) c.2092A>C (n.2092A>C) c.2195A>C (p.Lys732Thr) c.678A>C (n.678A>C) c.2202A>C (n.2202A>C) c.1952A>C (p.Lys651Thr) c.28A>C c.1402-10281A>C (n.1402-10281A>C) c.2288A>C (p.Lys763Thr) c.2468A>C (p.Lys823Thr) c.2135A>C (p.Lys712Thr)
7	g.117592545A>G	CA368981085	CFTR	c.2378A>G (p.Lys793Arg) c.2092A>G (n.2092A>G) c.2195A>G (p.Lys732Arg) c.678A>G (n.678A>G) c.2202A>G (n.2202A>G) c.1952A>G (p.Lys651Arg) c.28A>G c.1402-10281A>G (n.1402-10281A>G) c.2288A>G (p.Lys763Arg) c.2468A>G (p.Lys823Arg) c.2135A>G (p.Lys712Arg)	gnomAD v4
7	g.117592545A>T	CA368981086	CFTR	c.2378A>T (p.Lys793Ile) c.2092A>T (n.2092A>T) c.2195A>T (p.Lys732Ile) c.678A>T (n.678A>T) c.2202A>T (n.2202A>T) c.1952A>T (p.Lys651Ile) c.28A>T c.1402-10281A>T (n.1402-10281A>T) c.2288A>T (p.Lys763Ile) c.2468A>T (p.Lys823Ile) c.2135A>T (p.Lys712Ile)
7	g.117592546A>C	CA368981088	CFTR	c.2379A>C (p.Lys793Asn) c.2093A>C (n.2093A>C) c.2196A>C (p.Lys732Asn) c.679A>C (n.679A>C) c.2203A>C (n.2203A>C) c.1953A>C (p.Lys651Asn) c.29A>C c.1402-10280A>C (n.1402-10280A>C) c.2289A>C (p.Lys763Asn) c.2469A>C (p.Lys823Asn) c.2136A>C (p.Lys712Asn)
7	g.117592546A>G	CA457449926	CFTR	c.2379A>G (p.Lys793=) c.2093A>G (n.2093A>G) c.2196A>G (p.Lys732=) c.679A>G (n.679A>G) c.2203A>G (n.2203A>G) c.1953A>G (p.Lys651=) c.29A>G c.1402-10280A>G (n.1402-10280A>G) c.2289A>G (p.Lys763=) c.2469A>G (p.Lys823=) c.2136A>G (p.Lys712=)
7	g.117592546A>T	CA368981089	CFTR	c.2379A>T (p.Lys793Asn) c.2093A>T (n.2093A>T) c.2196A>T (p.Lys732Asn) c.679A>T (n.679A>T) c.2203A>T (n.2203A>T) c.1953A>T (p.Lys651Asn) c.29A>T c.1402-10280A>T (n.1402-10280A>T) c.2289A>T (p.Lys763Asn) c.2469A>T (p.Lys823Asn) c.2136A>T (p.Lys712Asn)	ClinVar
7	g.117592547G>A	CA368981090	CFTR	c.2380G>A (p.Val794Met) c.2094G>A (n.2094G>A) c.2197G>A (p.Val733Met) c.680G>A (n.680G>A) c.2204G>A (n.2204G>A) c.1954G>A (p.Val652Met) c.30G>A c.1402-10279G>A (n.1402-10279G>A) c.2290G>A (p.Val764Met) c.2470G>A (p.Val824Met) c.2137G>A (p.Val713Met)	ClinVar dbSNP gnomAD v3 gnomAD v4
7	g.117592547G>C	CA368981091	CFTR	c.2380G>C (p.Val794Leu) c.2094G>C (n.2094G>C) c.2197G>C (p.Val733Leu) c.680G>C (n.680G>C) c.2204G>C (n.2204G>C) c.1954G>C (p.Val652Leu) c.30G>C c.1402-10279G>C (n.1402-10279G>C) c.2290G>C (p.Val764Leu) c.2470G>C (p.Val824Leu) c.2137G>C (p.Val713Leu)	ClinVar dbSNP gnomAD v2 gnomAD v4
7	g.117592547G=	CA1737395470	CFTR	c.2380G= (p.Val794=) c.2094G= (n.2094G=) c.2197G= (p.Val733=) c.680G= (n.680G=) c.2204G= (n.2204G=) c.1954G= (p.Val652=) c.30G= c.1402-10279G= (n.1402-10279G=) c.2290G= (p.Val764=) c.2470G= (p.Val824=) c.2137G= (p.Val713=)
7	g.117592547G>T	CA368981092	CFTR	c.2380G>T (p.Val794Leu) c.2094G>T (n.2094G>T) c.2197G>T (p.Val733Leu) c.680G>T (n.680G>T) c.2204G>T (n.2204G>T) c.1954G>T (p.Val652Leu) c.30G>T c.1402-10279G>T (n.1402-10279G>T) c.2290G>T (p.Val764Leu) c.2470G>T (p.Val824Leu) c.2137G>T (p.Val713Leu)	dbSNP gnomAD v2 gnomAD v4
7	g.117592549_117592550del	CA2580617857	CFTR	c.2382_2383del (p.Ser795ThrfsTer9) c.2096_2097del (n.2096_2097del) c.2199_2200del (p.Ser734ThrfsTer9) c.682_683del (n.682_683del) c.2206_2207del (n.2206_2207del) c.1956_1957del (p.Ser653ThrfsTer9) c.32_33del c.1402-10277_1402-10276del (n.1402-10277_1402-10276del) c.2292_2293del (p.Ser765ThrfsTer9) c.2472_2473del (p.Ser825ThrfsTer9) c.2139_2140del (p.Ser714ThrfsTer9)	ClinVar
7	g.117592548_117592617del	CA2695199624	CFTR	c.2381_2450del (p.Val794AlafsTer4) c.2095_2164del (n.2095_2164del) c.2198_2267del (p.Val733AlafsTer4) c.681_750del (n.681_750del) c.2205_2274del (n.2205_2274del) c.1955_2024del (p.Val652AlafsTer4) c.31_100del c.1402-10278_1402-10209del (n.1402-10278_1402-10209del) c.2291_2360del (p.Val764AlafsTer4) c.2471_2540del (p.Val824AlafsTer4) c.2138_2207del (p.Val713AlafsTer4)	ClinVar
7	g.117592548T>A	CA368981093	CFTR	c.2381T>A (p.Val794Glu) c.2095T>A (n.2095T>A) c.2198T>A (p.Val733Glu) c.681T>A (n.681T>A) c.2205T>A (n.2205T>A) c.1955T>A (p.Val652Glu) c.31T>A c.1402-10278T>A (n.1402-10278T>A) c.2291T>A (p.Val764Glu) c.2471T>A (p.Val824Glu) c.2138T>A (p.Val713Glu)	ClinVar
7	g.117592548T>C	CA368981094	CFTR	c.2381T>C (p.Val794Ala) c.2095T>C (n.2095T>C) c.2198T>C (p.Val733Ala) c.681T>C (n.681T>C) c.2205T>C (n.2205T>C) c.1955T>C (p.Val652Ala) c.31T>C c.1402-10278T>C (n.1402-10278T>C) c.2291T>C (p.Val764Ala) c.2471T>C (p.Val824Ala) c.2138T>C (p.Val713Ala)
7	g.117592548T>G	CA368981095	CFTR	c.2381T>G (p.Val794Gly) c.2095T>G (n.2095T>G) c.2198T>G (p.Val733Gly) c.681T>G (n.681T>G) c.2205T>G (n.2205T>G) c.1955T>G (p.Val652Gly) c.31T>G c.1402-10278T>G (n.1402-10278T>G) c.2291T>G (p.Val764Gly) c.2471T>G (p.Val824Gly) c.2138T>G (p.Val713Gly)
7	g.117592549G>A	CA457449937	CFTR	c.2382G>A (p.Val794=) c.2096G>A (n.2096G>A) c.2199G>A (p.Val733=) c.682G>A (n.682G>A) c.2206G>A (n.2206G>A) c.1956G>A (p.Val652=) c.32G>A c.1402-10277G>A (n.1402-10277G>A) c.2292G>A (p.Val764=) c.2472G>A (p.Val824=) c.2139G>A (p.Val713=)
7	g.117592549G>C	CA457449936	CFTR	c.2382G>C (p.Val794=) c.2096G>C (n.2096G>C) c.2199G>C (p.Val733=) c.682G>C (n.682G>C) c.2206G>C (n.2206G>C) c.1956G>C (p.Val652=) c.32G>C c.1402-10277G>C (n.1402-10277G>C) c.2292G>C (p.Val764=) c.2472G>C (p.Val824=) c.2139G>C (p.Val713=)
7	g.117592549G>T	CA457449935	CFTR	c.2382G>T (p.Val794=) c.2096G>T (n.2096G>T) c.2199G>T (p.Val733=) c.682G>T (n.682G>T) c.2206G>T (n.2206G>T) c.1956G>T (p.Val652=) c.32G>T c.1402-10277G>T (n.1402-10277G>T) c.2292G>T (p.Val764=) c.2472G>T (p.Val824=) c.2139G>T (p.Val713=)
7	g.117592550T>A	CA368981096	CFTR	c.2383T>A (p.Ser795Thr) c.2097T>A (n.2097T>A) c.2200T>A (p.Ser734Thr) c.683T>A (n.683T>A) c.2207T>A (n.2207T>A) c.1957T>A (p.Ser653Thr) c.33T>A c.1402-10276T>A (n.1402-10276T>A) c.2293T>A (p.Ser765Thr) c.2473T>A (p.Ser825Thr) c.2140T>A (p.Ser714Thr)
7	g.117592550T>C	CA368981097	CFTR	c.2383T>C (p.Ser795Pro) c.2097T>C (n.2097T>C) c.2200T>C (p.Ser734Pro) c.683T>C (n.683T>C) c.2207T>C (n.2207T>C) c.1957T>C (p.Ser653Pro) c.33T>C c.1402-10276T>C (n.1402-10276T>C) c.2293T>C (p.Ser765Pro) c.2473T>C (p.Ser825Pro) c.2140T>C (p.Ser714Pro)
7	g.117592550T>G	CA368981098	CFTR	c.2383T>G (p.Ser795Ala) c.2097T>G (n.2097T>G) c.2200T>G (p.Ser734Ala) c.683T>G (n.683T>G) c.2207T>G (n.2207T>G) c.1957T>G (p.Ser653Ala) c.33T>G c.1402-10276T>G (n.1402-10276T>G) c.2293T>G (p.Ser765Ala) c.2473T>G (p.Ser825Ala) c.2140T>G (p.Ser714Ala)
7	g.117592550_117592551delinsTC	CA1737395474	CFTR	c.2383_2384delinsTC (p.Ser795=) c.2097_2098delinsTC (n.2097_2098delinsTC) c.2200_2201delinsTC (p.Ser734=) c.683_684delinsTC (n.683_684delinsTC) c.2207_2208delinsTC (n.2207_2208delinsTC) c.1957_1958delinsTC (p.Ser653=) c.33_34delinsTC c.1402-10276_1402-10275delinsTC (n.1402-10276_1402-10275delinsTC) c.2293_2294delinsTC (p.Ser765=) c.2473_2474delinsTC (p.Ser825=) c.2140_2141delinsTC (p.Ser714=)
7	g.117592551del	CA164948262	CFTR	c.2384del (p.Ser795TyrfsTer8) c.2098del (n.2098del) c.2201del (p.Ser734TyrfsTer8) c.684del (n.684del) c.2208del (n.2208del) c.1958del (p.Ser653TyrfsTer8) c.34del c.1402-10275del (n.1402-10275del) c.2294del (p.Ser765TyrfsTer8) c.2474del (p.Ser825TyrfsTer8) c.2141del (p.Ser714TyrfsTer8)	dbSNP
7	g.117592551C>A	CA368981100	CFTR	c.2384C>A (p.Ser795Ter) c.2098C>A (n.2098C>A) c.2201C>A (p.Ser734Ter) c.684C>A (n.684C>A) c.2208C>A (n.2208C>A) c.1958C>A (p.Ser653Ter) c.34C>A c.1402-10275C>A (n.1402-10275C>A) c.2294C>A (p.Ser765Ter) c.2474C>A (p.Ser825Ter) c.2141C>A (p.Ser714Ter)	gnomAD v4
7	g.117592551C=	CA1737395477	CFTR	c.2384C= (p.Ser795=) c.2098C= (n.2098C=) c.2201C= (p.Ser734=) c.684C= (n.684C=) c.2208C= (n.2208C=) c.1958C= (p.Ser653=) c.34C= c.1402-10275C= (n.1402-10275C=) c.2294C= (p.Ser765=) c.2474C= (p.Ser825=) c.2141C= (p.Ser714=)
7	g.117592551C>G	CA368981101	CFTR	c.2384C>G (p.Ser795Ter) c.2098C>G (n.2098C>G) c.2201C>G (p.Ser734Ter) c.684C>G (n.684C>G) c.2208C>G (n.2208C>G) c.1958C>G (p.Ser653Ter) c.34C>G c.1402-10275C>G (n.1402-10275C>G) c.2294C>G (p.Ser765Ter) c.2474C>G (p.Ser825Ter) c.2141C>G (p.Ser714Ter)
7	g.117592551C>T	CA368981099	CFTR	c.2384C>T (p.Ser795Leu) c.2098C>T (n.2098C>T) c.2201C>T (p.Ser734Leu) c.684C>T (n.684C>T) c.2208C>T (n.2208C>T) c.1958C>T (p.Ser653Leu) c.34C>T c.1402-10275C>T (n.1402-10275C>T) c.2294C>T (p.Ser765Leu) c.2474C>T (p.Ser825Leu) c.2141C>T (p.Ser714Leu)	dbSNP
7	g.117592552A>C	CA457449948	CFTR	c.2385A>C (p.Ser795=) c.2099A>C (n.2099A>C) c.2202A>C (p.Ser734=) c.685A>C (n.685A>C) c.2209A>C (n.2209A>C) c.1959A>C (p.Ser653=) c.35A>C c.1402-10274A>C (n.1402-10274A>C) c.2295A>C (p.Ser765=) c.2475A>C (p.Ser825=) c.2142A>C (p.Ser714=)
7	g.117592552A>G	CA457449949	CFTR	c.2385A>G (p.Ser795=) c.2099A>G (n.2099A>G) c.2202A>G (p.Ser734=) c.685A>G (n.685A>G) c.2209A>G (n.2209A>G) c.1959A>G (p.Ser653=) c.35A>G c.1402-10274A>G (n.1402-10274A>G) c.2295A>G (p.Ser765=) c.2475A>G (p.Ser825=) c.2142A>G (p.Ser714=)
7	g.117592552A>T	CA457449950	CFTR	c.2385A>T (p.Ser795=) c.2099A>T (n.2099A>T) c.2202A>T (p.Ser734=) c.685A>T (n.685A>T) c.2209A>T (n.2209A>T) c.1959A>T (p.Ser653=) c.35A>T c.1402-10274A>T (n.1402-10274A>T) c.2295A>T (p.Ser765=) c.2475A>T (p.Ser825=) c.2142A>T (p.Ser714=)
7	g.117592553C>A	CA368981103	CFTR	c.2386C>A (p.Leu796Met) c.2100C>A (n.2100C>A) c.2203C>A (p.Leu735Met) c.686C>A (n.686C>A) c.2210C>A (n.2210C>A) c.1960C>A (p.Leu654Met) c.36C>A c.1402-10273C>A (n.1402-10273C>A) c.2296C>A (p.Leu766Met) c.2476C>A (p.Leu826Met) c.2143C>A (p.Leu715Met)
7	g.117592553C>G	CA368981102	CFTR	c.2386C>G (p.Leu796Val) c.2100C>G (n.2100C>G) c.2203C>G (p.Leu735Val) c.686C>G (n.686C>G) c.2210C>G (n.2210C>G) c.1960C>G (p.Leu654Val) c.36C>G c.1402-10273C>G (n.1402-10273C>G) c.2296C>G (p.Leu766Val) c.2476C>G (p.Leu826Val) c.2143C>G (p.Leu715Val)
7	g.117592553C>T	CA457449951	CFTR	c.2386C>T (p.Leu796=) c.2100C>T (n.2100C>T) c.2203C>T (p.Leu735=) c.686C>T (n.686C>T) c.2210C>T (n.2210C>T) c.1960C>T (p.Leu654=) c.36C>T c.1402-10273C>T (n.1402-10273C>T) c.2296C>T (p.Leu766=) c.2476C>T (p.Leu826=) c.2143C>T (p.Leu715=)	gnomAD v4
7	g.117592554T>A	CA368981106	CFTR	c.2387T>A (p.Leu796Gln) c.2101T>A (n.2101T>A) c.2204T>A (p.Leu735Gln) c.687T>A (n.687T>A) c.2211T>A (n.2211T>A) c.1961T>A (p.Leu654Gln) c.37T>A c.1402-10272T>A (n.1402-10272T>A) c.2297T>A (p.Leu766Gln) c.2477T>A (p.Leu826Gln) c.2144T>A (p.Leu715Gln)	ClinVar gnomAD v4
7	g.117592554T>C	CA368981104	CFTR	c.2387T>C (p.Leu796Pro) c.2101T>C (n.2101T>C) c.2204T>C (p.Leu735Pro) c.687T>C (n.687T>C) c.2211T>C (n.2211T>C) c.1961T>C (p.Leu654Pro) c.37T>C c.1402-10272T>C (n.1402-10272T>C) c.2297T>C (p.Leu766Pro) c.2477T>C (p.Leu826Pro) c.2144T>C (p.Leu715Pro)	ClinVar dbSNP gnomAD v2 gnomAD v4
7	g.117592554T>G	CA368981105	CFTR	c.2387T>G (p.Leu796Arg) c.2101T>G (n.2101T>G) c.2204T>G (p.Leu735Arg) c.687T>G (n.687T>G) c.2211T>G (n.2211T>G) c.1961T>G (p.Leu654Arg) c.37T>G c.1402-10272T>G (n.1402-10272T>G) c.2297T>G (p.Leu766Arg) c.2477T>G (p.Leu826Arg) c.2144T>G (p.Leu715Arg)
7	g.117592554T=	CA1737395480	CFTR	c.2387T= (p.Leu796=) c.2101T= (n.2101T=) c.2204T= (p.Leu735=) c.687T= (n.687T=) c.2211T= (n.2211T=) c.1961T= (p.Leu654=) c.37T= c.1402-10272T= (n.1402-10272T=) c.2297T= (p.Leu766=) c.2477T= (p.Leu826=) c.2144T= (p.Leu715=)
7	g.117592555G>A	CA457449956	CFTR	c.2388G>A (p.Leu796=) c.2102G>A (n.2102G>A) c.2205G>A (p.Leu735=) c.688G>A (n.688G>A) c.2212G>A (n.2212G>A) c.1962G>A (p.Leu654=) c.38G>A c.1402-10271G>A (n.1402-10271G>A) c.2298G>A (p.Leu766=) c.2478G>A (p.Leu826=) c.2145G>A (p.Leu715=)
7	g.117592555G>C	CA457449959	CFTR	c.2388G>C (p.Leu796=) c.2102G>C (n.2102G>C) c.2205G>C (p.Leu735=) c.688G>C (n.688G>C) c.2212G>C (n.2212G>C) c.1962G>C (p.Leu654=) c.38G>C c.1402-10271G>C (n.1402-10271G>C) c.2298G>C (p.Leu766=) c.2478G>C (p.Leu826=) c.2145G>C (p.Leu715=)
7	g.117592555G>T	CA457449958	CFTR	c.2388G>T (p.Leu796=) c.2102G>T (n.2102G>T) c.2205G>T (p.Leu735=) c.688G>T (n.688G>T) c.2212G>T (n.2212G>T) c.1962G>T (p.Leu654=) c.38G>T c.1402-10271G>T (n.1402-10271G>T) c.2298G>T (p.Leu766=) c.2478G>T (p.Leu826=) c.2145G>T (p.Leu715=)
7	g.117592556G>A	CA368981107	CFTR	c.2389G>A (p.Ala797Thr) c.2103G>A (n.2103G>A) c.2206G>A (p.Ala736Thr) c.689G>A (n.689G>A) c.2213G>A (n.2213G>A) c.1963G>A (p.Ala655Thr) c.39G>A c.1402-10270G>A (n.1402-10270G>A) c.2299G>A (p.Ala767Thr) c.2479G>A (p.Ala827Thr) c.2146G>A (p.Ala716Thr)	dbSNP gnomAD v4
7	g.117592556G>C	CA368981108	CFTR	c.2389G>C (p.Ala797Pro) c.2103G>C (n.2103G>C) c.2206G>C (p.Ala736Pro) c.689G>C (n.689G>C) c.2213G>C (n.2213G>C) c.1963G>C (p.Ala655Pro) c.39G>C c.1402-10270G>C (n.1402-10270G>C) c.2299G>C (p.Ala767Pro) c.2479G>C (p.Ala827Pro) c.2146G>C (p.Ala716Pro)
7	g.117592556G=	CA1737395485	CFTR	c.2389G= (p.Ala797=) c.2103G= (n.2103G=) c.2206G= (p.Ala736=) c.689G= (n.689G=) c.2213G= (n.2213G=) c.1963G= (p.Ala655=) c.39G= c.1402-10270G= (n.1402-10270G=) c.2299G= (p.Ala767=) c.2479G= (p.Ala827=) c.2146G= (p.Ala716=)
7	g.117592556G>T	CA368981109	CFTR	c.2389G>T (p.Ala797Ser) c.2103G>T (n.2103G>T) c.2206G>T (p.Ala736Ser) c.689G>T (n.689G>T) c.2213G>T (n.2213G>T) c.1963G>T (p.Ala655Ser) c.39G>T c.1402-10270G>T (n.1402-10270G>T) c.2299G>T (p.Ala767Ser) c.2479G>T (p.Ala827Ser) c.2146G>T (p.Ala716Ser)	ClinVar gnomAD v4
7	g.117592557C>A	CA368981110	CFTR	c.2390C>A (p.Ala797Asp) c.2104C>A (n.2104C>A) c.2207C>A (p.Ala736Asp) c.690C>A (n.690C>A) c.2214C>A (n.2214C>A) c.1964C>A (p.Ala655Asp) c.40C>A c.1402-10269C>A (n.1402-10269C>A) c.2300C>A (p.Ala767Asp) c.2480C>A (p.Ala827Asp) c.2147C>A (p.Ala716Asp)
7	g.117592557C>G	CA368981111	CFTR	c.2390C>G (p.Ala797Gly) c.2104C>G (n.2104C>G) c.2207C>G (p.Ala736Gly) c.690C>G (n.690C>G) c.2214C>G (n.2214C>G) c.1964C>G (p.Ala655Gly) c.40C>G c.1402-10269C>G (n.1402-10269C>G) c.2300C>G (p.Ala767Gly) c.2480C>G (p.Ala827Gly) c.2147C>G (p.Ala716Gly)	ClinVar dbSNP
7	g.117592557C>T	CA368981112	CFTR	c.2390C>T (p.Ala797Val) c.2104C>T (n.2104C>T) c.2207C>T (p.Ala736Val) c.690C>T (n.690C>T) c.2214C>T (n.2214C>T) c.1964C>T (p.Ala655Val) c.40C>T c.1402-10269C>T (n.1402-10269C>T) c.2300C>T (p.Ala767Val) c.2480C>T (p.Ala827Val) c.2147C>T (p.Ala716Val)
7	g.117592560dup	CA326809	CFTR	c.2393dup (p.Gln799SerfsTer6) c.2107dup (n.2107dup) c.2210dup (p.Gln738SerfsTer6) c.693dup (n.693dup) c.2217dup (n.2217dup) c.1967dup (p.Gln657SerfsTer6) c.43dup c.1402-10266dup (n.1402-10266dup) c.2303dup (p.Gln769SerfsTer6) c.2483dup (p.Gln829SerfsTer6) c.2150dup (p.Gln718SerfsTer6)	ClinVar dbSNP
7	g.117592558C>A	CA164948266	CFTR	c.2391C>A (p.Ala797=) c.2105C>A (n.2105C>A) c.2208C>A (p.Ala736=) c.691C>A (n.691C>A) c.2215C>A (n.2215C>A) c.1965C>A (p.Ala655=) c.41C>A c.1402-10268C>A (n.1402-10268C>A) c.2301C>A (p.Ala767=) c.2481C>A (p.Ala827=) c.2148C>A (p.Ala716=)	dbSNP gnomAD v4
7	g.117592558C=	CA1737395493	CFTR	c.2391C= (p.Ala797=) c.2105C= (n.2105C=) c.2208C= (p.Ala736=) c.691C= (n.691C=) c.2215C= (n.2215C=) c.1965C= (p.Ala655=) c.41C= c.1402-10268C= (n.1402-10268C=) c.2301C= (p.Ala767=) c.2481C= (p.Ala827=) c.2148C= (p.Ala716=)
7	g.117592558C>G	CA457449968	CFTR	c.2391C>G (p.Ala797=) c.2105C>G (n.2105C>G) c.2208C>G (p.Ala736=) c.691C>G (n.691C>G) c.2215C>G (n.2215C>G) c.1965C>G (p.Ala655=) c.41C>G c.1402-10268C>G (n.1402-10268C>G) c.2301C>G (p.Ala767=) c.2481C>G (p.Ala827=) c.2148C>G (p.Ala716=)	gnomAD v4
7	g.117592558C>T	CA457449970	CFTR	c.2391C>T (p.Ala797=) c.2105C>T (n.2105C>T) c.2208C>T (p.Ala736=) c.691C>T (n.691C>T) c.2215C>T (n.2215C>T) c.1965C>T (p.Ala655=) c.41C>T c.1402-10268C>T (n.1402-10268C>T) c.2301C>T (p.Ala767=) c.2481C>T (p.Ala827=) c.2148C>T (p.Ala716=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7	g.117592559C>A	CA368981113	CFTR	c.2392C>A (p.Pro798Thr) c.2106C>A (n.2106C>A) c.2209C>A (p.Pro737Thr) c.692C>A (n.692C>A) c.2216C>A (n.2216C>A) c.1966C>A (p.Pro656Thr) c.42C>A c.1402-10267C>A (n.1402-10267C>A) c.2302C>A (p.Pro768Thr) c.2482C>A (p.Pro828Thr) c.2149C>A (p.Pro717Thr)
7	g.117592559C=	CA1737395497	CFTR	c.2392C= (p.Pro798=) c.2106C= (n.2106C=) c.2209C= (p.Pro737=) c.692C= (n.692C=) c.2216C= (n.2216C=) c.1966C= (p.Pro656=) c.42C= c.1402-10267C= (n.1402-10267C=) c.2302C= (p.Pro768=) c.2482C= (p.Pro828=) c.2149C= (p.Pro717=)
7	g.117592559C>G	CA368981114	CFTR	c.2392C>G (p.Pro798Ala) c.2106C>G (n.2106C>G) c.2209C>G (p.Pro737Ala) c.692C>G (n.692C>G) c.2216C>G (n.2216C>G) c.1966C>G (p.Pro656Ala) c.42C>G c.1402-10267C>G (n.1402-10267C>G) c.2302C>G (p.Pro768Ala) c.2482C>G (p.Pro828Ala) c.2149C>G (p.Pro717Ala)	gnomAD v4
7	g.117592559C>T	CA260215	CFTR	c.2392C>T (p.Pro798Ser) c.2106C>T (n.2106C>T) c.2209C>T (p.Pro737Ser) c.692C>T (n.692C>T) c.2216C>T (n.2216C>T) c.1966C>T (p.Pro656Ser) c.42C>T c.1402-10267C>T (n.1402-10267C>T) c.2302C>T (p.Pro768Ser) c.2482C>T (p.Pro828Ser) c.2149C>T (p.Pro717Ser)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7	g.117592560C>A	CA368981115	CFTR	c.2393C>A (p.Pro798His) c.2107C>A (n.2107C>A) c.2210C>A (p.Pro737His) c.693C>A (n.693C>A) c.2217C>A (n.2217C>A) c.1967C>A (p.Pro656His) c.43C>A c.1402-10266C>A (n.1402-10266C>A) c.2303C>A (p.Pro768His) c.2483C>A (p.Pro828His) c.2150C>A (p.Pro717His)
7	g.117592560C=	CA1737395502	CFTR	c.2393C= (p.Pro798=) c.2107C= (n.2107C=) c.2210C= (p.Pro737=) c.693C= (n.693C=) c.2217C= (n.2217C=) c.1967C= (p.Pro656=) c.43C= c.1402-10266C= (n.1402-10266C=) c.2303C= (p.Pro768=) c.2483C= (p.Pro828=) c.2150C= (p.Pro717=)
7	g.117592560C>G	CA368981116	CFTR	c.2393C>G (p.Pro798Arg) c.2107C>G (n.2107C>G) c.2210C>G (p.Pro737Arg) c.693C>G (n.693C>G) c.2217C>G (n.2217C>G) c.1967C>G (p.Pro656Arg) c.43C>G c.1402-10266C>G (n.1402-10266C>G) c.2303C>G (p.Pro768Arg) c.2483C>G (p.Pro828Arg) c.2150C>G (p.Pro717Arg)	ClinVar dbSNP gnomAD v3 gnomAD v4
7	g.117592560C>T	CA368981117	CFTR	c.2393C>T (p.Pro798Leu) c.2107C>T (n.2107C>T) c.2210C>T (p.Pro737Leu) c.693C>T (n.693C>T) c.2217C>T (n.2217C>T) c.1967C>T (p.Pro656Leu) c.43C>T c.1402-10266C>T (n.1402-10266C>T) c.2303C>T (p.Pro768Leu) c.2483C>T (p.Pro828Leu) c.2150C>T (p.Pro717Leu)
7	g.117592561T>A	CA457448916	CFTR	c.2394T>A (p.Pro798=) c.2108T>A (n.2108T>A) c.2211T>A (p.Pro737=) c.694T>A (n.694T>A) c.2218T>A (n.2218T>A) c.1968T>A (p.Pro656=) c.44T>A c.1402-10265T>A (n.1402-10265T>A) c.2304T>A (p.Pro768=) c.2484T>A (p.Pro828=) c.2151T>A (p.Pro717=)
7	g.117592561T>C	CA457448917	CFTR	c.2394T>C (p.Pro798=) c.2108T>C (n.2108T>C) c.2211T>C (p.Pro737=) c.694T>C (n.694T>C) c.2218T>C (n.2218T>C) c.1968T>C (p.Pro656=) c.44T>C c.1402-10265T>C (n.1402-10265T>C) c.2304T>C (p.Pro768=) c.2484T>C (p.Pro828=) c.2151T>C (p.Pro717=)
7	g.117592561T>G	CA457448918	CFTR	c.2394T>G (p.Pro798=) c.2108T>G (n.2108T>G) c.2211T>G (p.Pro737=) c.694T>G (n.694T>G) c.2218T>G (n.2218T>G) c.1968T>G (p.Pro656=) c.44T>G c.1402-10265T>G (n.1402-10265T>G) c.2304T>G (p.Pro768=) c.2484T>G (p.Pro828=) c.2151T>G (p.Pro717=)
7	g.117592562C>A	CA164948282	CFTR	c.2395C>A (p.Gln799Lys) c.2109C>A (n.2109C>A) c.2212C>A (p.Gln738Lys) c.695C>A (n.695C>A) c.2219C>A (n.2219C>A) c.1969C>A (p.Gln657Lys) c.45C>A c.1402-10264C>A (n.1402-10264C>A) c.2305C>A (p.Gln769Lys) c.2485C>A (p.Gln829Lys) c.2152C>A (p.Gln718Lys)	ClinVar dbSNP gnomAD v2 gnomAD v4
7	g.117592562C=	CA1737395506	CFTR	c.2395C= (p.Gln799=) c.2109C= (n.2109C=) c.2212C= (p.Gln738=) c.695C= (n.695C=) c.2219C= (n.2219C=) c.1969C= (p.Gln657=) c.45C= c.1402-10264C= (n.1402-10264C=) c.2305C= (p.Gln769=) c.2485C= (p.Gln829=) c.2152C= (p.Gln718=)
7	g.117592562C>G	CA368981120	CFTR	c.2395C>G (p.Gln799Glu) c.2109C>G (n.2109C>G) c.2212C>G (p.Gln738Glu) c.695C>G (n.695C>G) c.2219C>G (n.2219C>G) c.1969C>G (p.Gln657Glu) c.45C>G c.1402-10264C>G (n.1402-10264C>G) c.2305C>G (p.Gln769Glu) c.2485C>G (p.Gln829Glu) c.2152C>G (p.Gln718Glu)
7	g.117592562C>T	CA368981119	CFTR	c.2395C>T (p.Gln799Ter) c.2109C>T (n.2109C>T) c.2212C>T (p.Gln738Ter) c.695C>T (n.695C>T) c.2219C>T (n.2219C>T) c.1969C>T (p.Gln657Ter) c.45C>T c.1402-10264C>T (n.1402-10264C>T) c.2305C>T (p.Gln769Ter) c.2485C>T (p.Gln829Ter) c.2152C>T (p.Gln718Ter)	ClinVar dbSNP
7	g.117592563A=	CA1737395512	CFTR	c.2396A= (p.Gln799=) c.2110A= (n.2110A=) c.2213A= (p.Gln738=) c.696A= (n.696A=) c.2220A= (n.2220A=) c.1970A= (p.Gln657=) c.46A= c.1402-10263A= (n.1402-10263A=) c.2306A= (p.Gln769=) c.2486A= (p.Gln829=) c.2153A= (p.Gln718=)
7	g.117592563A>C	CA368981122	CFTR	c.2396A>C (p.Gln799Pro) c.2110A>C (n.2110A>C) c.2213A>C (p.Gln738Pro) c.696A>C (n.696A>C) c.2220A>C (n.2220A>C) c.1970A>C (p.Gln657Pro) c.46A>C c.1402-10263A>C (n.1402-10263A>C) c.2306A>C (p.Gln769Pro) c.2486A>C (p.Gln829Pro) c.2153A>C (p.Gln718Pro)
7	g.117592563A>G	CA368981123	CFTR	c.2396A>G (p.Gln799Arg) c.2110A>G (n.2110A>G) c.2213A>G (p.Gln738Arg) c.696A>G (n.696A>G) c.2220A>G (n.2220A>G) c.1970A>G (p.Gln657Arg) c.46A>G c.1402-10263A>G (n.1402-10263A>G) c.2306A>G (p.Gln769Arg) c.2486A>G (p.Gln829Arg) c.2153A>G (p.Gln718Arg)	dbSNP gnomAD v4
7	g.117592563A>T	CA368981124	CFTR	c.2396A>T (p.Gln799Leu) c.2110A>T (n.2110A>T) c.2213A>T (p.Gln738Leu) c.696A>T (n.696A>T) c.2220A>T (n.2220A>T) c.1970A>T (p.Gln657Leu) c.46A>T c.1402-10263A>T (n.1402-10263A>T) c.2306A>T (p.Gln769Leu) c.2486A>T (p.Gln829Leu) c.2153A>T (p.Gln718Leu)
7	g.117592564G>A	CA457448921	CFTR	c.2397G>A (p.Gln799=) c.2111G>A (n.2111G>A) c.2214G>A (p.Gln738=) c.697G>A (n.697G>A) c.2221G>A (n.2221G>A) c.1971G>A (p.Gln657=) c.47G>A c.1402-10262G>A (n.1402-10262G>A) c.2307G>A (p.Gln769=) c.2487G>A (p.Gln829=) c.2154G>A (p.Gln718=)	ClinVar
7	g.117592564G>C	CA368981125	CFTR	c.2397G>C (p.Gln799His) c.2111G>C (n.2111G>C) c.2214G>C (p.Gln738His) c.697G>C (n.697G>C) c.2221G>C (n.2221G>C) c.1971G>C (p.Gln657His) c.47G>C c.1402-10262G>C (n.1402-10262G>C) c.2307G>C (p.Gln769His) c.2487G>C (p.Gln829His) c.2154G>C (p.Gln718His)
7	g.117592564G>T	CA368981127	CFTR	c.2397G>T (p.Gln799His) c.2111G>T (n.2111G>T) c.2214G>T (p.Gln738His) c.697G>T (n.697G>T) c.2221G>T (n.2221G>T) c.1971G>T (p.Gln657His) c.47G>T c.1402-10262G>T (n.1402-10262G>T) c.2307G>T (p.Gln769His) c.2487G>T (p.Gln829His) c.2154G>T (p.Gln718His)
7	g.117592565G>A	CA368981128	CFTR	c.2398G>A (p.Ala800Thr) c.2112G>A (n.2112G>A) c.2215G>A (p.Ala739Thr) c.698G>A (n.698G>A) c.2222G>A (n.2222G>A) c.1972G>A (p.Ala658Thr) c.48G>A c.1402-10261G>A (n.1402-10261G>A) c.2308G>A (p.Ala770Thr) c.2488G>A (p.Ala830Thr) c.2155G>A (p.Ala719Thr)	gnomAD v4
7	g.117592565G>C	CA368981129	CFTR	c.2398G>C (p.Ala800Pro) c.2112G>C (n.2112G>C) c.2215G>C (p.Ala739Pro) c.698G>C (n.698G>C) c.2222G>C (n.2222G>C) c.1972G>C (p.Ala658Pro) c.48G>C c.1402-10261G>C (n.1402-10261G>C) c.2308G>C (p.Ala770Pro) c.2488G>C (p.Ala830Pro) c.2155G>C (p.Ala719Pro)
7	g.117592565G=	CA1737395515	CFTR	c.2398G= (p.Ala800=) c.2112G= (n.2112G=) c.2215G= (p.Ala739=) c.698G= (n.698G=) c.2222G= (n.2222G=) c.1972G= (p.Ala658=) c.48G= c.1402-10261G= (n.1402-10261G=) c.2308G= (p.Ala770=) c.2488G= (p.Ala830=) c.2155G= (p.Ala719=)
7	g.117592565G>T	CA4451179	CFTR	c.2398G>T (p.Ala800Ser) c.2112G>T (n.2112G>T) c.2215G>T (p.Ala739Ser) c.698G>T (n.698G>T) c.2222G>T (n.2222G>T) c.1972G>T (p.Ala658Ser) c.48G>T c.1402-10261G>T (n.1402-10261G>T) c.2308G>T (p.Ala770Ser) c.2488G>T (p.Ala830Ser) c.2155G>T (p.Ala719Ser)	dbSNP ExAC gnomAD v2 gnomAD v4
7	g.117592566C>A	CA368981132	CFTR	c.2399C>A (p.Ala800Glu) c.2113C>A (n.2113C>A) c.2216C>A (p.Ala739Glu) c.699C>A (n.699C>A) c.2223C>A (n.2223C>A) c.1973C>A (p.Ala658Glu) c.49C>A c.1402-10260C>A (n.1402-10260C>A) c.2309C>A (p.Ala770Glu) c.2489C>A (p.Ala830Glu) c.2156C>A (p.Ala719Glu)	ClinVar gnomAD v4
7	g.117592566C=	CA1737395519	CFTR	c.2399C= (p.Ala800=) c.2113C= (n.2113C=) c.2216C= (p.Ala739=) c.699C= (n.699C=) c.2223C= (n.2223C=) c.1973C= (p.Ala658=) c.49C= c.1402-10260C= (n.1402-10260C=) c.2309C= (p.Ala770=) c.2489C= (p.Ala830=) c.2156C= (p.Ala719=)
7	g.117592566C>G	CA326810	CFTR	c.2399C>G (p.Ala800Gly) c.2113C>G (n.2113C>G) c.2216C>G (p.Ala739Gly) c.699C>G (n.699C>G) c.2223C>G (n.2223C>G) c.1973C>G (p.Ala658Gly) c.49C>G c.1402-10260C>G (n.1402-10260C>G) c.2309C>G (p.Ala770Gly) c.2489C>G (p.Ala830Gly) c.2156C>G (p.Ala719Gly)	ClinVar dbSNP
7	g.117592566C>T	CA368981134	CFTR	c.2399C>T (p.Ala800Val) c.2113C>T (n.2113C>T) c.2216C>T (p.Ala739Val) c.699C>T (n.699C>T) c.2223C>T (n.2223C>T) c.1973C>T (p.Ala658Val) c.49C>T c.1402-10260C>T (n.1402-10260C>T) c.2309C>T (p.Ala770Val) c.2489C>T (p.Ala830Val) c.2156C>T (p.Ala719Val)	ClinVar dbSNP gnomAD v2 gnomAD v4
7	g.117592567A=	CA1737395524	CFTR	c.2400A= (p.Ala800=) c.2114A= (n.2114A=) c.2217A= (p.Ala739=) c.700A= (n.700A=) c.2224A= (n.2224A=) c.1974A= (p.Ala658=) c.50A= c.1402-10259A= (n.1402-10259A=) c.2310A= (p.Ala770=) c.2490A= (p.Ala830=) c.2157A= (p.Ala719=)
7	g.117592567A>C	CA457448924	CFTR	c.2400A>C (p.Ala800=) c.2114A>C (n.2114A>C) c.2217A>C (p.Ala739=) c.700A>C (n.700A>C) c.2224A>C (n.2224A>C) c.1974A>C (p.Ala658=) c.50A>C c.1402-10259A>C (n.1402-10259A>C) c.2310A>C (p.Ala770=) c.2490A>C (p.Ala830=) c.2157A>C (p.Ala719=)
7	g.117592567A>G	CA457448925	CFTR	c.2400A>G (p.Ala800=) c.2114A>G (n.2114A>G) c.2217A>G (p.Ala739=) c.700A>G (n.700A>G) c.2224A>G (n.2224A>G) c.1974A>G (p.Ala658=) c.50A>G c.1402-10259A>G (n.1402-10259A>G) c.2310A>G (p.Ala770=) c.2490A>G (p.Ala830=) c.2157A>G (p.Ala719=)
7	g.117592567A>T	CA164948307	CFTR	c.2400A>T (p.Ala800=) c.2114A>T (n.2114A>T) c.2217A>T (p.Ala739=) c.700A>T (n.700A>T) c.2224A>T (n.2224A>T) c.1974A>T (p.Ala658=) c.50A>T c.1402-10259A>T (n.1402-10259A>T) c.2310A>T (p.Ala770=) c.2490A>T (p.Ala830=) c.2157A>T (p.Ala719=)	dbSNP
7	g.117592568A=	CA1737395527	CFTR	c.2401A= (p.Asn801=) c.2115A= (n.2115A=) c.2218A= (p.Asn740=) c.701A= (n.701A=) c.2225A= (n.2225A=) c.1975A= (p.Asn659=) c.51A= c.1402-10258A= (n.1402-10258A=) c.2311A= (p.Asn771=) c.2491A= (p.Asn831=) c.2158A= (p.Asn720=)
7	g.117592568A>C	CA368981138	CFTR	c.2401A>C (p.Asn801His) c.2115A>C (n.2115A>C) c.2218A>C (p.Asn740His) c.701A>C (n.701A>C) c.2225A>C (n.2225A>C) c.1975A>C (p.Asn659His) c.51A>C c.1402-10258A>C (n.1402-10258A>C) c.2311A>C (p.Asn771His) c.2491A>C (p.Asn831His) c.2158A>C (p.Asn720His)
7	g.117592568A>G	CA368981141	CFTR	c.2401A>G (p.Asn801Asp) c.2115A>G (n.2115A>G) c.2218A>G (p.Asn740Asp) c.701A>G (n.701A>G) c.2225A>G (n.2225A>G) c.1975A>G (p.Asn659Asp) c.51A>G c.1402-10258A>G (n.1402-10258A>G) c.2311A>G (p.Asn771Asp) c.2491A>G (p.Asn831Asp) c.2158A>G (p.Asn720Asp)
7	g.117592568A>T	CA368981139	CFTR	c.2401A>T (p.Asn801Tyr) c.2115A>T (n.2115A>T) c.2218A>T (p.Asn740Tyr) c.701A>T (n.701A>T) c.2225A>T (n.2225A>T) c.1975A>T (p.Asn659Tyr) c.51A>T c.1402-10258A>T (n.1402-10258A>T) c.2311A>T (p.Asn771Tyr) c.2491A>T (p.Asn831Tyr) c.2158A>T (p.Asn720Tyr)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7	g.117592569A=	CA1737395533	CFTR	c.2402A= (p.Asn801=) c.2116A= (n.2116A=) c.2219A= (p.Asn740=) c.702A= (n.702A=) c.2226A= (n.2226A=) c.1976A= (p.Asn659=) c.52A= c.1402-10257A= (n.1402-10257A=) c.2312A= (p.Asn771=) c.2492A= (p.Asn831=) c.2159A= (p.Asn720=)
7	g.117592569A>C	CA368981142	CFTR	c.2402A>C (p.Asn801Thr) c.2116A>C (n.2116A>C) c.2219A>C (p.Asn740Thr) c.702A>C (n.702A>C) c.2226A>C (n.2226A>C) c.1976A>C (p.Asn659Thr) c.52A>C c.1402-10257A>C (n.1402-10257A>C) c.2312A>C (p.Asn771Thr) c.2492A>C (p.Asn831Thr) c.2159A>C (p.Asn720Thr)
7	g.117592569A>G	CA368981144	CFTR	c.2402A>G (p.Asn801Ser) c.2116A>G (n.2116A>G) c.2219A>G (p.Asn740Ser) c.702A>G (n.702A>G) c.2226A>G (n.2226A>G) c.1976A>G (p.Asn659Ser) c.52A>G c.1402-10257A>G (n.1402-10257A>G) c.2312A>G (p.Asn771Ser) c.2492A>G (p.Asn831Ser) c.2159A>G (p.Asn720Ser)	ClinVar dbSNP
7	g.117592569A>T	CA368981146	CFTR	c.2402A>T (p.Asn801Ile) c.2116A>T (n.2116A>T) c.2219A>T (p.Asn740Ile) c.702A>T (n.702A>T) c.2226A>T (n.2226A>T) c.1976A>T (p.Asn659Ile) c.52A>T c.1402-10257A>T (n.1402-10257A>T) c.2312A>T (p.Asn771Ile) c.2492A>T (p.Asn831Ile) c.2159A>T (p.Asn720Ile)	ClinVar gnomAD v4
7	g.117592570C>A	CA368981147	CFTR	c.2403C>A (p.Asn801Lys) c.2117C>A (n.2117C>A) c.2220C>A (p.Asn740Lys) c.703C>A (n.703C>A) c.2227C>A (n.2227C>A) c.1977C>A (p.Asn659Lys) c.53C>A c.1402-10256C>A (n.1402-10256C>A) c.2313C>A (p.Asn771Lys) c.2493C>A (p.Asn831Lys) c.2160C>A (p.Asn720Lys)
7	g.117592570C=	CA1737395537	CFTR	c.2403C= (p.Asn801=) c.2117C= (n.2117C=) c.2220C= (p.Asn740=) c.703C= (n.703C=) c.2227C= (n.2227C=) c.1977C= (p.Asn659=) c.53C= c.1402-10256C= (n.1402-10256C=) c.2313C= (p.Asn771=) c.2493C= (p.Asn831=) c.2160C= (p.Asn720=)
7	g.117592570C>G	CA368981148	CFTR	c.2403C>G (p.Asn801Lys) c.2117C>G (n.2117C>G) c.2220C>G (p.Asn740Lys) c.703C>G (n.703C>G) c.2227C>G (n.2227C>G) c.1977C>G (p.Asn659Lys) c.53C>G c.1402-10256C>G (n.1402-10256C>G) c.2313C>G (p.Asn771Lys) c.2493C>G (p.Asn831Lys) c.2160C>G (p.Asn720Lys)	ClinVar dbSNP gnomAD v3 gnomAD v4
7	g.117592570C>T	CA4451180	CFTR	c.2403C>T (p.Asn801=) c.2117C>T (n.2117C>T) c.2220C>T (p.Asn740=) c.703C>T (n.703C>T) c.2227C>T (n.2227C>T) c.1977C>T (p.Asn659=) c.53C>T c.1402-10256C>T (n.1402-10256C>T) c.2313C>T (p.Asn771=) c.2493C>T (p.Asn831=) c.2160C>T (p.Asn720=)	dbSNP ExAC gnomAD v2 gnomAD v4

Number of alleles fetched