Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.117591251_117595608delinsCTACATTTGTACTACA2580076490CFTRc.1767-683_2619+550delinsCTACATTTGTACTA
c.*1481-683_*2333+550delinsCTACATTTGTACTA
c.1584-683_2436+550delinsCTACATTTGTACTA
c.*67-683_*919+550delinsCTACATTTGTACTA
c.*1591-683_*2443+550delinsCTACATTTGTACTA
c.1341-683_2193+550delinsCTACATTTGTACTA
c.1402-11575_1402-7218delinsCTACATTTGTACTA (n.1402-11575_1402-7218delinsCTACATTTGTACTA)
c.1677-683_2529+550delinsCTACATTTGTACTA
c.1857-683_2709+550delinsCTACATTTGTACTA
c.1524-683_2376+550delinsCTACATTTGTACTA
 ClinVar
7g.117592491_117592492delCA326791CFTRc.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
7g.117592492C>ACA368980979CFTRc.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)
7g.117592492C>GCA368980980CFTRc.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)
7g.117592492C>TCA457449754CFTRc.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=)
7g.117592493T>ACA368980981CFTRc.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)
7g.117592493T>CCA368980982CFTRc.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)
7g.117592493T>GCA368980983CFTRc.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)
7g.117592494C>ACA368980984CFTRc.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)
7g.117592494C=CA1737395284CFTRc.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=)
7g.117592494C>GCA326792CFTRc.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
7g.117592494C>TCA368980985CFTRc.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
7g.117592495A>CCA457449762CFTRc.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=)
7g.117592495A>GCA457449763CFTRc.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
7g.117592495A>TCA457449766CFTRc.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=)
7g.117592495dupCA2695208517CFTRc.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)
7g.117592496G>ACA368980988CFTRc.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)
7g.117592496G>CCA368980987CFTRc.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)
7g.117592496G>TCA368980986CFTRc.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)
7g.117592497T>ACA368980989CFTRc.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)
7g.117592497T>CCA368980991CFTRc.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)
7g.117592497T>GCA368980990CFTRc.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)
7g.117592498T>ACA457449770CFTRc.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=)
7g.117592498T>CCA457449772CFTRc.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=)
7g.117592498T>GCA457449773CFTRc.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=)
7g.117592499A>CCA368980992CFTRc.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)
7g.117592499A>GCA368980993CFTRc.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)
7g.117592499A>TCA368980994CFTRc.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)
7g.117592500delCA2695208518CFTRc.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)
7g.117592500A>CCA368980995CFTRc.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)
7g.117592500A>GCA368980996CFTRc.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)
7g.117592500A>TCA368980997CFTRc.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)
7g.117592501C>ACA368980998CFTRc.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
7g.117592501C>GCA368980999CFTRc.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
7g.117592501C>TCA457449775CFTRc.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=)
7g.117592502delCA2580076545CFTRc.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
7g.117592502C>ACA368981000CFTRc.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)
 gnomAD v4
7g.117592502C>GCA368981001CFTRc.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)
7g.117592502C>TCA368981002CFTRc.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
7g.117592503A>CCA368981003CFTRc.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)
7g.117592503A>GCA368981004CFTRc.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)
7g.117592503A>TCA368981005CFTRc.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)
7g.117592504delCA2580076546CFTRc.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
7g.117592504A>CCA368981006CFTRc.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)
7g.117592504A>GCA457449783CFTRc.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=)
7g.117592504A>TCA368981007CFTRc.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)
7g.117592505G>ACA368981008CFTRc.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
7g.117592505G>CCA368981009CFTRc.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)
7g.117592505G>TCA368981010CFTRc.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
7g.117592506delCA2695208519CFTRc.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)
7g.117592506G>ACA368981011CFTRc.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)
7g.117592506G>CCA368981012CFTRc.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)
7g.117592506G>TCA368981013CFTRc.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
7g.117592507T>ACA457449789CFTRc.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=)
7g.117592507T>CCA457449791CFTRc.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=)
7g.117592507T>GCA457449792CFTRc.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=)
7g.117592508C>ACA368981014CFTRc.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
7g.117592508C=CA1737395291CFTRc.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=)
7g.117592508C>GCA368981015CFTRc.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
7g.117592508C>TCA326796CFTRc.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
7g.117592509A>CCA368981016CFTRc.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)
7g.117592509A>GCA368981017CFTRc.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
7g.117592509A>TCA368981018CFTRc.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)
7g.117592510G>ACA457449800CFTRc.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=)
7g.117592510G>CCA368981019CFTRc.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
7g.117592510G=CA1737395294CFTRc.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=)
7g.117592510G>TCA368981020CFTRc.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)
7g.117592511A>CCA368981021CFTRc.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)
7g.117592511A>GCA368981022CFTRc.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)
7g.117592511A>TCA368981023CFTRc.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)
7g.117592512A=CA1737395296CFTRc.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=)
7g.117592512A>CCA368981024CFTRc.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
7g.117592512A>GCA368981025CFTRc.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)
7g.117592512A>TCA368981026CFTRc.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)
7g.117592513C>ACA326798CFTRc.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
7g.117592513C=CA1737395301CFTRc.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=)
7g.117592513C>GCA368981027CFTRc.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)
7g.117592513C>TCA164948226CFTRc.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
7g.117592514A=CA1737395304CFTRc.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=)
7g.117592514A>CCA368981028CFTRc.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)
7g.117592514A>GCA4451173CFTRc.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
7g.117592514A>TCA368981029CFTRc.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)
7g.117592515T>ACA368981030CFTRc.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)
7g.117592515T>CCA368981031CFTRc.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)
7g.117592515T>GCA4451174CFTRc.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
7g.117592515T=CA1737395307CFTRc.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=)
7g.117592516dupCA2695208520CFTRc.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)
7g.117592516T>ACA457449818CFTRc.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=)
7g.117592516T>CCA457449822CFTRc.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
7g.117592516T>GCA368981032CFTRc.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)
7g.117592517C>ACA368981033CFTRc.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)
7g.117592517C=CA1737395308CFTRc.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=)
7g.117592517C>GCA368981034CFTRc.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
7g.117592517C>TCA368981035CFTRc.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)
7g.117592518A>CCA368981036CFTRc.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)
7g.117592518A>GCA368981037CFTRc.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
7g.117592518A>TCA368981038CFTRc.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)
7g.117592519C>ACA368981039CFTRc.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)
7g.117592519C>GCA368981040CFTRc.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)
7g.117592519C>TCA457449829CFTRc.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=)
7g.117592520C>ACA457449830CFTRc.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=)
7g.117592520C=CA1737395314CFTRc.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=)
7g.117592520C>GCA368981041CFTRc.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
7g.117592520C>TCA326800CFTRc.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
7g.117592521G>ACA4451175CFTRc.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
7g.117592521G>CCA4451176CFTRc.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
7g.117592521G=CA1737395323CFTRc.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=)
7g.117592521G>TCA368981042CFTRc.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
7g.117592521_117592528dupCA2695208521CFTRc.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)
7g.117592522A>CCA457449839CFTRc.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=)
7g.117592522A>GCA457449840CFTRc.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=)
7g.117592522A>TCA457449841CFTRc.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=)
7g.117592523A>CCA368981043CFTRc.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)
7g.117592523A>GCA368981045CFTRc.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)
7g.117592523A>TCA368981044CFTRc.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)
7g.117592524A>CCA368981046CFTRc.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)
7g.117592524A>GCA368981047CFTRc.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)
7g.117592524A>TCA368981048CFTRc.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)
7g.117592525G>ACA457449854CFTRc.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
7g.117592525G>CCA4451177CFTRc.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
7g.117592525G=CA1737395330CFTRc.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=)
7g.117592525G>TCA368981049CFTRc.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
7g.117592526A>CCA368981052CFTRc.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)
7g.117592526A>GCA368981051CFTRc.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)
7g.117592526A>TCA368981050CFTRc.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)
7g.117592527C>ACA368981053CFTRc.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
7g.117592527C>GCA368981054CFTRc.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)
7g.117592527C>TCA368981055CFTRc.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
7g.117592528A>CCA457449862CFTRc.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=)
7g.117592528A>GCA457449864CFTRc.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=)
7g.117592528A>TCA457449865CFTRc.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=)
7g.117592529A>CCA368981056CFTRc.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)
7g.117592529A>GCA368981057CFTRc.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
7g.117592529A>TCA368981058CFTRc.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)
7g.117592530C>ACA368981061CFTRc.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
7g.117592530C=CA1737395332CFTRc.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=)
7g.117592530C>GCA368981059CFTRc.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)
7g.117592530C>TCA368981060CFTRc.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)
7g.117592531A>CCA457449871CFTRc.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=)
7g.117592531A>GCA457449870CFTRc.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
7g.117592531A>TCA457449869CFTRc.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=)
7g.117592532G>ACA368981062CFTRc.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
7g.117592532G>CCA368981063CFTRc.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)
7g.117592532G=CA1737395334CFTRc.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=)
7g.117592532G>TCA368981064CFTRc.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
7g.117592533C>ACA368981065CFTRc.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
7g.117592533C>GCA368981066CFTRc.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)
7g.117592533C>TCA368981067CFTRc.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
7g.117592534A>CCA457449880CFTRc.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=)
7g.117592534A>GCA457449881CFTRc.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=)
7g.117592534A>TCA457449882CFTRc.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=)
7g.117592535T>ACA368981068CFTRc.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)
7g.117592535T>CCA368981069CFTRc.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)
7g.117592535T>GCA368981070CFTRc.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)
7g.117592536C>ACA368981071CFTRc.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)
7g.117592536C>GCA368981072CFTRc.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)
7g.117592536C>TCA368981073CFTRc.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
7g.117592537C>ACA457449888CFTRc.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=)
7g.117592537C>GCA457449889CFTRc.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=)
7g.117592537C>TCA457449892CFTRc.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=)
7g.117592537_117592543delinsCACACGACA1737395339CFTRc.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=)
7g.117592538A>CCA368981074CFTRc.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)
7g.117592538A>GCA368981076CFTRc.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)
7g.117592538A>TCA368981075CFTRc.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)
7g.117592539_117592544delCA913190195CFTRc.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
7g.117592539C>ACA368981077CFTRc.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)
7g.117592539C=CA1737395348CFTRc.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=)
7g.117592539C>GCA368981078CFTRc.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)
7g.117592539C>TCA368981079CFTRc.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
7g.117592539_117592540delinsCACA1737395346CFTRc.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=)
7g.117592540delCA915945427CFTRc.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
7g.117592540A=CA1737395358CFTRc.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=)
7g.117592540A>CCA457449909CFTRc.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
7g.117592540A>GCA164948251CFTRc.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
7g.117592540A>TCA457449911CFTRc.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=)
7g.117592540_117592544delinsCCCA2580614249CFTRc.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
7g.117592541C>ACA457449914CFTRc.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
7g.117592541C=CA1737395455CFTRc.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=)
7g.117592541C>GCA326806CFTRc.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
7g.117592541C>TCA326807CFTRc.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
7g.117592542G>ACA4451178CFTRc.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
7g.117592542G>CCA368981080CFTRc.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)
7g.117592542G=CA1737395468CFTRc.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=)
7g.117592542G>TCA368981081CFTRc.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)
7g.117592542_117592544delCA577680773CFTRc.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)
 gnomAD v2 gnomAD v4
7g.117592543A>CCA457449919CFTRc.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=)
7g.117592543A>GCA457449920CFTRc.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=)
7g.117592543A>TCA457449922CFTRc.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=)
7g.117592546delCA2580076555CFTRc.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
7g.117592544A>CCA368981082CFTRc.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)
7g.117592544A>GCA368981083CFTRc.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)
7g.117592544A>TCA368981084CFTRc.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)
7g.117592545A>CCA368981087CFTRc.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)
7g.117592545A>GCA368981085CFTRc.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
7g.117592545A>TCA368981086CFTRc.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)
7g.117592546A>CCA368981088CFTRc.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)
7g.117592546A>GCA457449926CFTRc.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=)
7g.117592546A>TCA368981089CFTRc.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
7g.117592547G>ACA368981090CFTRc.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
7g.117592547G>CCA368981091CFTRc.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
7g.117592547G=CA1737395470CFTRc.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=)
7g.117592547G>TCA368981092CFTRc.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
7g.117592549_117592550delCA2580617857CFTRc.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
7g.117592548_117592617delCA2695199624CFTRc.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
7g.117592548T>ACA368981093CFTRc.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
7g.117592548T>CCA368981094CFTRc.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)
7g.117592548T>GCA368981095CFTRc.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)
7g.117592549G>ACA457449937CFTRc.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=)
7g.117592549G>CCA457449936CFTRc.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=)
7g.117592549G>TCA457449935CFTRc.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=)
7g.117592550T>ACA368981096CFTRc.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)
7g.117592550T>CCA368981097CFTRc.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)
7g.117592550T>GCA368981098CFTRc.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)
7g.117592550_117592551delinsTCCA1737395474CFTRc.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=)
7g.117592551delCA164948262CFTRc.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
7g.117592551C>ACA368981100CFTRc.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
7g.117592551C=CA1737395477CFTRc.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=)
7g.117592551C>GCA368981101CFTRc.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)
7g.117592551C>TCA368981099CFTRc.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
7g.117592552A>CCA457449948CFTRc.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=)
7g.117592552A>GCA457449949CFTRc.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=)
7g.117592552A>TCA457449950CFTRc.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=)
7g.117592553C>ACA368981103CFTRc.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)
7g.117592553C>GCA368981102CFTRc.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)
7g.117592553C>TCA457449951CFTRc.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
7g.117592554T>ACA368981106CFTRc.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
7g.117592554T>CCA368981104CFTRc.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
7g.117592554T>GCA368981105CFTRc.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)
7g.117592554T=CA1737395480CFTRc.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=)
7g.117592555G>ACA457449956CFTRc.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=)
7g.117592555G>CCA457449959CFTRc.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=)
7g.117592555G>TCA457449958CFTRc.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=)
7g.117592556G>ACA368981107CFTRc.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
7g.117592556G>CCA368981108CFTRc.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)
7g.117592556G=CA1737395485CFTRc.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=)
7g.117592556G>TCA368981109CFTRc.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
7g.117592557C>ACA368981110CFTRc.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)
7g.117592557C>GCA368981111CFTRc.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
7g.117592557C>TCA368981112CFTRc.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)
7g.117592560dupCA326809CFTRc.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
7g.117592558C>ACA164948266CFTRc.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
7g.117592558C=CA1737395493CFTRc.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=)
7g.117592558C>GCA457449968CFTRc.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
7g.117592558C>TCA457449970CFTRc.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
7g.117592559C>ACA368981113CFTRc.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)
7g.117592559C=CA1737395497CFTRc.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=)
7g.117592559C>GCA368981114CFTRc.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
7g.117592559C>TCA260215CFTRc.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
7g.117592560C>ACA368981115CFTRc.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)
7g.117592560C=CA1737395502CFTRc.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=)
7g.117592560C>GCA368981116CFTRc.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
7g.117592560C>TCA368981117CFTRc.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)
7g.117592561T>ACA457448916CFTRc.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=)
7g.117592561T>CCA457448917CFTRc.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=)
7g.117592561T>GCA457448918CFTRc.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=)
7g.117592562C>ACA164948282CFTRc.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
7g.117592562C=CA1737395506CFTRc.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=)
7g.117592562C>GCA368981120CFTRc.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)
7g.117592562C>TCA368981119CFTRc.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
7g.117592563A=CA1737395512CFTRc.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=)
7g.117592563A>CCA368981122CFTRc.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)
7g.117592563A>GCA368981123CFTRc.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
7g.117592563A>TCA368981124CFTRc.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)
7g.117592564G>ACA457448921CFTRc.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
7g.117592564G>CCA368981125CFTRc.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)
7g.117592564G>TCA368981127CFTRc.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)
7g.117592565G>ACA368981128CFTRc.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
7g.117592565G>CCA368981129CFTRc.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)
7g.117592565G=CA1737395515CFTRc.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=)
7g.117592565G>TCA4451179CFTRc.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
7g.117592566C>ACA368981132CFTRc.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
7g.117592566C=CA1737395519CFTRc.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=)
7g.117592566C>GCA326810CFTRc.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
7g.117592566C>TCA368981134CFTRc.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
7g.117592567A=CA1737395524CFTRc.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=)
7g.117592567A>CCA457448924CFTRc.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=)
7g.117592567A>GCA457448925CFTRc.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=)
7g.117592567A>TCA164948307CFTRc.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
7g.117592568A=CA1737395527CFTRc.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=)
7g.117592568A>CCA368981138CFTRc.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)
7g.117592568A>GCA368981141CFTRc.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)
7g.117592568A>TCA368981139CFTRc.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
7g.117592569A=CA1737395533CFTRc.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=)
7g.117592569A>CCA368981142CFTRc.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)
7g.117592569A>GCA368981144CFTRc.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
7g.117592569A>TCA368981146CFTRc.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
7g.117592570C>ACA368981147CFTRc.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)
7g.117592570C=CA1737395537CFTRc.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=)
7g.117592570C>GCA368981148CFTRc.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
7g.117592570C>TCA4451180CFTRc.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
7g.117592571T>ACA368981149CFTRc.2404T>A (p.Leu802Met)
c.*2118T>A (n.*2118T>A)
c.2221T>A (p.Leu741Met)
c.*704T>A (n.*704T>A)
c.*2228T>A (n.*2228T>A)
c.1978T>A (p.Leu660Met)
c.54T>A
c.1402-10255T>A (n.1402-10255T>A)
c.2314T>A (p.Leu772Met)
c.2494T>A (p.Leu832Met)
c.2161T>A (p.Leu721Met)
7g.117592571T>CCA457448929CFTRc.2404T>C (p.Leu802=)
c.*2118T>C (n.*2118T>C)
c.2221T>C (p.Leu741=)
c.*704T>C (n.*704T>C)
c.*2228T>C (n.*2228T>C)
c.1978T>C (p.Leu660=)
c.54T>C
c.1402-10255T>C (n.1402-10255T>C)
c.2314T>C (p.Leu772=)
c.2494T>C (p.Leu832=)
c.2161T>C (p.Leu721=)
7g.117592571T>GCA368981151CFTRc.2404T>G (p.Leu802Val)
c.*2118T>G (n.*2118T>G)
c.2221T>G (p.Leu741Val)
c.*704T>G (n.*704T>G)
c.*2228T>G (n.*2228T>G)
c.1978T>G (p.Leu660Val)
c.54T>G
c.1402-10255T>G (n.1402-10255T>G)
c.2314T>G (p.Leu772Val)
c.2494T>G (p.Leu832Val)
c.2161T>G (p.Leu721Val)
 ClinVar
7g.117592572T>ACA368981152CFTRc.2405T>A (p.Leu802Ter)
c.*2119T>A (n.*2119T>A)
c.2222T>A (p.Leu741Ter)
c.*705T>A (n.*705T>A)
c.*2229T>A (n.*2229T>A)
c.1979T>A (p.Leu660Ter)
c.55T>A
c.1402-10254T>A (n.1402-10254T>A)
c.2315T>A (p.Leu772Ter)
c.2495T>A (p.Leu832Ter)
c.2162T>A (p.Leu721Ter)
7g.117592572T>CCA368981153CFTRc.2405T>C (p.Leu802Ser)
c.*2119T>C (n.*2119T>C)
c.2222T>C (p.Leu741Ser)
c.*705T>C (n.*705T>C)
c.*2229T>C (n.*2229T>C)
c.1979T>C (p.Leu660Ser)
c.55T>C
c.1402-10254T>C (n.1402-10254T>C)
c.2315T>C (p.Leu772Ser)
c.2495T>C (p.Leu832Ser)
c.2162T>C (p.Leu721Ser)
 gnomAD v4
7g.117592572T>GCA368981155CFTRc.2405T>G (p.Leu802Trp)
c.*2119T>G (n.*2119T>G)
c.2222T>G (p.Leu741Trp)
c.*705T>G (n.*705T>G)
c.*2229T>G (n.*2229T>G)
c.1979T>G (p.Leu660Trp)
c.55T>G
c.1402-10254T>G (n.1402-10254T>G)
c.2315T>G (p.Leu772Trp)
c.2495T>G (p.Leu832Trp)
c.2162T>G (p.Leu721Trp)
7g.117592573G>ACA457448932CFTRc.2406G>A (p.Leu802=)
c.*2120G>A (n.*2120G>A)
c.2223G>A (p.Leu741=)
c.*706G>A (n.*706G>A)
c.*2230G>A (n.*2230G>A)
c.1980G>A (p.Leu660=)
c.56G>A
c.1402-10253G>A (n.1402-10253G>A)
c.2316G>A (p.Leu772=)
c.2496G>A (p.Leu832=)
c.2163G>A (p.Leu721=)
7g.117592573G>CCA368981156CFTRc.2406G>C (p.Leu802Phe)
c.*2120G>C (n.*2120G>C)
c.2223G>C (p.Leu741Phe)
c.*706G>C (n.*706G>C)
c.*2230G>C (n.*2230G>C)
c.1980G>C (p.Leu660Phe)
c.56G>C
c.1402-10253G>C (n.1402-10253G>C)
c.2316G>C (p.Leu772Phe)
c.2496G>C (p.Leu832Phe)
c.2163G>C (p.Leu721Phe)
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.117592573G=CA1737395540CFTRc.2406G= (p.Leu802=)
c.*2120G= (n.*2120G=)
c.2223G= (p.Leu741=)
c.*706G= (n.*706G=)
c.*2230G= (n.*2230G=)
c.1980G= (p.Leu660=)
c.56G=
c.1402-10253G= (n.1402-10253G=)
c.2316G= (p.Leu772=)
c.2496G= (p.Leu832=)
c.2163G= (p.Leu721=)
7g.117592573G>TCA368981157CFTRc.2406G>T (p.Leu802Phe)
c.*2120G>T (n.*2120G>T)
c.2223G>T (p.Leu741Phe)
c.*706G>T (n.*706G>T)
c.*2230G>T (n.*2230G>T)
c.1980G>T (p.Leu660Phe)
c.56G>T
c.1402-10253G>T (n.1402-10253G>T)
c.2316G>T (p.Leu772Phe)
c.2496G>T (p.Leu832Phe)
c.2163G>T (p.Leu721Phe)
 gnomAD v4
7g.117592574A=CA1737395543CFTRc.2407A= (p.Thr803=)
c.*2121A= (n.*2121A=)
c.2224A= (p.Thr742=)
c.*707A= (n.*707A=)
c.*2231A= (n.*2231A=)
c.1981A= (p.Thr661=)
c.57A=
c.1402-10252A= (n.1402-10252A=)
c.2317A= (p.Thr773=)
c.2497A= (p.Thr833=)
c.2164A= (p.Thr722=)
7g.117592574A>CCA368981159CFTRc.2407A>C (p.Thr803Pro)
c.*2121A>C (n.*2121A>C)
c.2224A>C (p.Thr742Pro)
c.*707A>C (n.*707A>C)
c.*2231A>C (n.*2231A>C)
c.1981A>C (p.Thr661Pro)
c.57A>C
c.1402-10252A>C (n.1402-10252A>C)
c.2317A>C (p.Thr773Pro)
c.2497A>C (p.Thr833Pro)
c.2164A>C (p.Thr722Pro)
7g.117592574A>GCA368981163CFTRc.2407A>G (p.Thr803Ala)
c.*2121A>G (n.*2121A>G)
c.2224A>G (p.Thr742Ala)
c.*707A>G (n.*707A>G)
c.*2231A>G (n.*2231A>G)
c.1981A>G (p.Thr661Ala)
c.57A>G
c.1402-10252A>G (n.1402-10252A>G)
c.2317A>G (p.Thr773Ala)
c.2497A>G (p.Thr833Ala)
c.2164A>G (p.Thr722Ala)
7g.117592574A>TCA368981161CFTRc.2407A>T (p.Thr803Ser)
c.*2121A>T (n.*2121A>T)
c.2224A>T (p.Thr742Ser)
c.*707A>T (n.*707A>T)
c.*2231A>T (n.*2231A>T)
c.1981A>T (p.Thr661Ser)
c.57A>T
c.1402-10252A>T (n.1402-10252A>T)
c.2317A>T (p.Thr773Ser)
c.2497A>T (p.Thr833Ser)
c.2164A>T (p.Thr722Ser)
 ClinVar dbSNP
7g.117592575C>ACA368981165CFTRc.2408C>A (p.Thr803Asn)
c.*2122C>A (n.*2122C>A)
c.2225C>A (p.Thr742Asn)
c.*708C>A (n.*708C>A)
c.*2232C>A (n.*2232C>A)
c.1982C>A (p.Thr661Asn)
c.58C>A
c.1402-10251C>A (n.1402-10251C>A)
c.2318C>A (p.Thr773Asn)
c.2498C>A (p.Thr833Asn)
c.2165C>A (p.Thr722Asn)
7g.117592575C>GCA368981167CFTRc.2408C>G (p.Thr803Ser)
c.*2122C>G (n.*2122C>G)
c.2225C>G (p.Thr742Ser)
c.*708C>G (n.*708C>G)
c.*2232C>G (n.*2232C>G)
c.1982C>G (p.Thr661Ser)
c.58C>G
c.1402-10251C>G (n.1402-10251C>G)
c.2318C>G (p.Thr773Ser)
c.2498C>G (p.Thr833Ser)
c.2165C>G (p.Thr722Ser)
7g.117592575C>TCA368981168CFTRc.2408C>T (p.Thr803Ile)
c.*2122C>T (n.*2122C>T)
c.2225C>T (p.Thr742Ile)
c.*708C>T (n.*708C>T)
c.*2232C>T (n.*2232C>T)
c.1982C>T (p.Thr661Ile)
c.58C>T
c.1402-10251C>T (n.1402-10251C>T)
c.2318C>T (p.Thr773Ile)
c.2498C>T (p.Thr833Ile)
c.2165C>T (p.Thr722Ile)
 gnomAD v4
7g.117592576T>ACA457448935CFTRc.2409T>A (p.Thr803=)
c.*2123T>A (n.*2123T>A)
c.2226T>A (p.Thr742=)
c.*709T>A (n.*709T>A)
c.*2233T>A (n.*2233T>A)
c.1983T>A (p.Thr661=)
c.59T>A
c.1402-10250T>A (n.1402-10250T>A)
c.2319T>A (p.Thr773=)
c.2499T>A (p.Thr833=)
c.2166T>A (p.Thr722=)
7g.117592576T>CCA457448936CFTRc.2409T>C (p.Thr803=)
c.*2123T>C (n.*2123T>C)
c.2226T>C (p.Thr742=)
c.*709T>C (n.*709T>C)
c.*2233T>C (n.*2233T>C)
c.1983T>C (p.Thr661=)
c.59T>C
c.1402-10250T>C (n.1402-10250T>C)
c.2319T>C (p.Thr773=)
c.2499T>C (p.Thr833=)
c.2166T>C (p.Thr722=)
 gnomAD v4
7g.117592576T>GCA457448938CFTRc.2409T>G (p.Thr803=)
c.*2123T>G (n.*2123T>G)
c.2226T>G (p.Thr742=)
c.*709T>G (n.*709T>G)
c.*2233T>G (n.*2233T>G)
c.1983T>G (p.Thr661=)
c.59T>G
c.1402-10250T>G (n.1402-10250T>G)
c.2319T>G (p.Thr773=)
c.2499T>G (p.Thr833=)
c.2166T>G (p.Thr722=)
 gnomAD v4
7g.117592577G>ACA368981169CFTRc.2410G>A (p.Glu804Lys)
c.*2124G>A (n.*2124G>A)
c.2227G>A (p.Glu743Lys)
c.*710G>A (n.*710G>A)
c.*2234G>A (n.*2234G>A)
c.1984G>A (p.Glu662Lys)
c.1G>A (p.Glu1Lys)
c.60G>A
c.1402-10249G>A (n.1402-10249G>A)
c.2320G>A (p.Glu774Lys)
c.2500G>A (p.Glu834Lys)
c.2167G>A (p.Glu723Lys)
 ClinVar dbSNP gnomAD v3 gnomAD v4
7g.117592577G>CCA368981171CFTRc.2410G>C (p.Glu804Gln)
c.*2124G>C (n.*2124G>C)
c.2227G>C (p.Glu743Gln)
c.*710G>C (n.*710G>C)
c.*2234G>C (n.*2234G>C)
c.1984G>C (p.Glu662Gln)
c.1G>C (p.Glu1Gln)
c.60G>C
c.1402-10249G>C (n.1402-10249G>C)
c.2320G>C (p.Glu774Gln)
c.2500G>C (p.Glu834Gln)
c.2167G>C (p.Glu723Gln)
7g.117592577G=CA1737395553CFTRc.2410G= (p.Glu804=)
c.*2124G= (n.*2124G=)
c.2227G= (p.Glu743=)
c.*710G= (n.*710G=)
c.*2234G= (n.*2234G=)
c.1984G= (p.Glu662=)
c.1G= (p.Glu1=)
c.60G=
c.1402-10249G= (n.1402-10249G=)
c.2320G= (p.Glu774=)
c.2500G= (p.Glu834=)
c.2167G= (p.Glu723=)
7g.117592577G>TCA368981172CFTRc.2410G>T (p.Glu804Ter)
c.*2124G>T (n.*2124G>T)
c.2227G>T (p.Glu743Ter)
c.*710G>T (n.*710G>T)
c.*2234G>T (n.*2234G>T)
c.1984G>T (p.Glu662Ter)
c.1G>T (p.Glu1Ter)
c.60G>T
c.1402-10249G>T (n.1402-10249G>T)
c.2320G>T (p.Glu774Ter)
c.2500G>T (p.Glu834Ter)
c.2167G>T (p.Glu723Ter)
 ClinVar dbSNP
7g.117592578A=CA1737395556CFTRc.2411A= (p.Glu804=)
c.*2125A= (n.*2125A=)
c.2228A= (p.Glu743=)
c.*711A= (n.*711A=)
c.*2235A= (n.*2235A=)
c.1985A= (p.Glu662=)
c.2A= (p.Glu1=)
c.61A=
c.1402-10248A= (n.1402-10248A=)
c.2321A= (p.Glu774=)
c.2501A= (p.Glu834=)
c.2168A= (p.Glu723=)
7g.117592578A>CCA368981173CFTRc.2411A>C (p.Glu804Ala)
c.*2125A>C (n.*2125A>C)
c.2228A>C (p.Glu743Ala)
c.*711A>C (n.*711A>C)
c.*2235A>C (n.*2235A>C)
c.1985A>C (p.Glu662Ala)
c.2A>C (p.Glu1Ala)
c.61A>C
c.1402-10248A>C (n.1402-10248A>C)
c.2321A>C (p.Glu774Ala)
c.2501A>C (p.Glu834Ala)
c.2168A>C (p.Glu723Ala)
7g.117592578A>GCA368981175CFTRc.2411A>G (p.Glu804Gly)
c.*2125A>G (n.*2125A>G)
c.2228A>G (p.Glu743Gly)
c.*711A>G (n.*711A>G)
c.*2235A>G (n.*2235A>G)
c.1985A>G (p.Glu662Gly)
c.2A>G (p.Glu1Gly)
c.61A>G
c.1402-10248A>G (n.1402-10248A>G)
c.2321A>G (p.Glu774Gly)
c.2501A>G (p.Glu834Gly)
c.2168A>G (p.Glu723Gly)
7g.117592578A>TCA326811CFTRc.2411A>T (p.Glu804Val)
c.*2125A>T (n.*2125A>T)
c.2228A>T (p.Glu743Val)
c.*711A>T (n.*711A>T)
c.*2235A>T (n.*2235A>T)
c.1985A>T (p.Glu662Val)
c.2A>T (p.Glu1Val)
c.61A>T
c.1402-10248A>T (n.1402-10248A>T)
c.2321A>T (p.Glu774Val)
c.2501A>T (p.Glu834Val)
c.2168A>T (p.Glu723Val)
 ClinVar dbSNP
7g.117592579A=CA1737395559CFTRc.2412A= (p.Glu804=)
c.*2126A= (n.*2126A=)
c.2229A= (p.Glu743=)
c.*712A= (n.*712A=)
c.*2236A= (n.*2236A=)
c.1986A= (p.Glu662=)
c.3A= (p.Glu1=)
c.62A=
c.1402-10247A= (n.1402-10247A=)
c.2322A= (p.Glu774=)
c.2502A= (p.Glu834=)
c.2169A= (p.Glu723=)
7g.117592579A>CCA368981178CFTRc.2412A>C (p.Glu804Asp)
c.*2126A>C (n.*2126A>C)
c.2229A>C (p.Glu743Asp)
c.*712A>C (n.*712A>C)
c.*2236A>C (n.*2236A>C)
c.1986A>C (p.Glu662Asp)
c.3A>C (p.Glu1Asp)
c.62A>C
c.1402-10247A>C (n.1402-10247A>C)
c.2322A>C (p.Glu774Asp)
c.2502A>C (p.Glu834Asp)
c.2169A>C (p.Glu723Asp)
 dbSNP
7g.117592579A>GCA457448940CFTRc.2412A>G (p.Glu804=)
c.*2126A>G (n.*2126A>G)
c.2229A>G (p.Glu743=)
c.*712A>G (n.*712A>G)
c.*2236A>G (n.*2236A>G)
c.1986A>G (p.Glu662=)
c.3A>G (p.Glu1=)
c.62A>G
c.1402-10247A>G (n.1402-10247A>G)
c.2322A>G (p.Glu774=)
c.2502A>G (p.Glu834=)
c.2169A>G (p.Glu723=)
 dbSNP gnomAD v4
7g.117592579A>TCA368981179CFTRc.2412A>T (p.Glu804Asp)
c.*2126A>T (n.*2126A>T)
c.2229A>T (p.Glu743Asp)
c.*712A>T (n.*712A>T)
c.*2236A>T (n.*2236A>T)
c.1986A>T (p.Glu662Asp)
c.3A>T (p.Glu1Asp)
c.62A>T
c.1402-10247A>T (n.1402-10247A>T)
c.2322A>T (p.Glu774Asp)
c.2502A>T (p.Glu834Asp)
c.2169A>T (p.Glu723Asp)
7g.117592580C>ACA368981182CFTRc.2413C>A (p.Leu805Met)
c.*2127C>A (n.*2127C>A)
c.2230C>A (p.Leu744Met)
c.*713C>A (n.*713C>A)
c.*2237C>A (n.*2237C>A)
c.1987C>A (p.Leu663Met)
c.4C>A (p.Leu2Met)
c.63C>A
c.1402-10246C>A (n.1402-10246C>A)
c.2323C>A (p.Leu775Met)
c.2503C>A (p.Leu835Met)
c.2170C>A (p.Leu724Met)
 gnomAD v4
7g.117592580C>GCA368981181CFTRc.2413C>G (p.Leu805Val)
c.*2127C>G (n.*2127C>G)
c.2230C>G (p.Leu744Val)
c.*713C>G (n.*713C>G)
c.*2237C>G (n.*2237C>G)
c.1987C>G (p.Leu663Val)
c.4C>G (p.Leu2Val)
c.63C>G
c.1402-10246C>G (n.1402-10246C>G)
c.2323C>G (p.Leu775Val)
c.2503C>G (p.Leu835Val)
c.2170C>G (p.Leu724Val)
7g.117592580C>TCA457448942CFTRc.2413C>T (p.Leu805=)
c.*2127C>T (n.*2127C>T)
c.2230C>T (p.Leu744=)
c.*713C>T (n.*713C>T)
c.*2237C>T (n.*2237C>T)
c.1987C>T (p.Leu663=)
c.4C>T (p.Leu2=)
c.63C>T
c.1402-10246C>T (n.1402-10246C>T)
c.2323C>T (p.Leu775=)
c.2503C>T (p.Leu835=)
c.2170C>T (p.Leu724=)
 ClinVar dbSNP gnomAD v4
7g.117592581T>ACA368981183CFTRc.2414T>A (p.Leu805Gln)
c.*2128T>A (n.*2128T>A)
c.2231T>A (p.Leu744Gln)
c.*714T>A (n.*714T>A)
c.*2238T>A (n.*2238T>A)
c.1988T>A (p.Leu663Gln)
c.5T>A (p.Leu2Gln)
c.64T>A
c.1402-10245T>A (n.1402-10245T>A)
c.2324T>A (p.Leu775Gln)
c.2504T>A (p.Leu835Gln)
c.2171T>A (p.Leu724Gln)
7g.117592581T>CCA368981184CFTRc.2414T>C (p.Leu805Pro)
c.*2128T>C (n.*2128T>C)
c.2231T>C (p.Leu744Pro)
c.*714T>C (n.*714T>C)
c.*2238T>C (n.*2238T>C)
c.1988T>C (p.Leu663Pro)
c.5T>C (p.Leu2Pro)
c.64T>C
c.1402-10245T>C (n.1402-10245T>C)
c.2324T>C (p.Leu775Pro)
c.2504T>C (p.Leu835Pro)
c.2171T>C (p.Leu724Pro)
7g.117592581T>GCA368981187CFTRc.2414T>G (p.Leu805Arg)
c.*2128T>G (n.*2128T>G)
c.2231T>G (p.Leu744Arg)
c.*714T>G (n.*714T>G)
c.*2238T>G (n.*2238T>G)
c.1988T>G (p.Leu663Arg)
c.5T>G (p.Leu2Arg)
c.64T>G
c.1402-10245T>G (n.1402-10245T>G)
c.2324T>G (p.Leu775Arg)
c.2504T>G (p.Leu835Arg)
c.2171T>G (p.Leu724Arg)
7g.117592582G>ACA457448943CFTRc.2415G>A (p.Leu805=)
c.*2129G>A (n.*2129G>A)
c.2232G>A (p.Leu744=)
c.*715G>A (n.*715G>A)
c.*2239G>A (n.*2239G>A)
c.1989G>A (p.Leu663=)
c.6G>A (p.Leu2=)
c.65G>A
c.1402-10244G>A (n.1402-10244G>A)
c.2325G>A (p.Leu775=)
c.2505G>A (p.Leu835=)
c.2172G>A (p.Leu724=)
7g.117592582G>CCA457448944CFTRc.2415G>C (p.Leu805=)
c.*2129G>C (n.*2129G>C)
c.2232G>C (p.Leu744=)
c.*715G>C (n.*715G>C)
c.*2239G>C (n.*2239G>C)
c.1989G>C (p.Leu663=)
c.6G>C (p.Leu2=)
c.65G>C
c.1402-10244G>C (n.1402-10244G>C)
c.2325G>C (p.Leu775=)
c.2505G>C (p.Leu835=)
c.2172G>C (p.Leu724=)
 ClinVar
7g.117592582G>TCA457448945CFTRc.2415G>T (p.Leu805=)
c.*2129G>T (n.*2129G>T)
c.2232G>T (p.Leu744=)
c.*715G>T (n.*715G>T)
c.*2239G>T (n.*2239G>T)
c.1989G>T (p.Leu663=)
c.6G>T (p.Leu2=)
c.65G>T
c.1402-10244G>T (n.1402-10244G>T)
c.2325G>T (p.Leu775=)
c.2505G>T (p.Leu835=)
c.2172G>T (p.Leu724=)
7g.117592583G>ACA368981189CFTRc.2416G>A (p.Asp806Asn)
c.*2130G>A (n.*2130G>A)
c.2233G>A (p.Asp745Asn)
c.*716G>A (n.*716G>A)
c.*2240G>A (n.*2240G>A)
c.1990G>A (p.Asp664Asn)
c.7G>A (p.Asp3Asn)
c.66G>A
c.1402-10243G>A (n.1402-10243G>A)
c.2326G>A (p.Asp776Asn)
c.2506G>A (p.Asp836Asn)
c.2173G>A (p.Asp725Asn)
 COSMIC
7g.117592583G>CCA368981191CFTRc.2416G>C (p.Asp806His)
c.*2130G>C (n.*2130G>C)
c.2233G>C (p.Asp745His)
c.*716G>C (n.*716G>C)
c.*2240G>C (n.*2240G>C)
c.1990G>C (p.Asp664His)
c.7G>C (p.Asp3His)
c.66G>C
c.1402-10243G>C (n.1402-10243G>C)
c.2326G>C (p.Asp776His)
c.2506G>C (p.Asp836His)
c.2173G>C (p.Asp725His)
7g.117592583G=CA1737395563CFTRc.2416G= (p.Asp806=)
c.*2130G= (n.*2130G=)
c.2233G= (p.Asp745=)
c.*716G= (n.*716G=)
c.*2240G= (n.*2240G=)
c.1990G= (p.Asp664=)
c.7G= (p.Asp3=)
c.66G=
c.1402-10243G= (n.1402-10243G=)
c.2326G= (p.Asp776=)
c.2506G= (p.Asp836=)
c.2173G= (p.Asp725=)
7g.117592583G>TCA368981193CFTRc.2416G>T (p.Asp806Tyr)
c.*2130G>T (n.*2130G>T)
c.2233G>T (p.Asp745Tyr)
c.*716G>T (n.*716G>T)
c.*2240G>T (n.*2240G>T)
c.1990G>T (p.Asp664Tyr)
c.7G>T (p.Asp3Tyr)
c.66G>T
c.1402-10243G>T (n.1402-10243G>T)
c.2326G>T (p.Asp776Tyr)
c.2506G>T (p.Asp836Tyr)
c.2173G>T (p.Asp725Tyr)
7g.117592584A=CA1737395569CFTRc.2417A= (p.Asp806=)
c.*2131A= (n.*2131A=)
c.2234A= (p.Asp745=)
c.*717A= (n.*717A=)
c.*2241A= (n.*2241A=)
c.1991A= (p.Asp664=)
c.8A= (p.Asp3=)
c.67A=
c.1402-10242A= (n.1402-10242A=)
c.2327A= (p.Asp776=)
c.2507A= (p.Asp836=)
c.2174A= (p.Asp725=)
7g.117592584A>CCA368981196CFTRc.2417A>C (p.Asp806Ala)
c.*2131A>C (n.*2131A>C)
c.2234A>C (p.Asp745Ala)
c.*717A>C (n.*717A>C)
c.*2241A>C (n.*2241A>C)
c.1991A>C (p.Asp664Ala)
c.8A>C (p.Asp3Ala)
c.67A>C
c.1402-10242A>C (n.1402-10242A>C)
c.2327A>C (p.Asp776Ala)
c.2507A>C (p.Asp836Ala)
c.2174A>C (p.Asp725Ala)
7g.117592584A>GCA326813CFTRc.2417A>G (p.Asp806Gly)
c.*2131A>G (n.*2131A>G)
c.2234A>G (p.Asp745Gly)
c.*717A>G (n.*717A>G)
c.*2241A>G (n.*2241A>G)
c.1991A>G (p.Asp664Gly)
c.8A>G (p.Asp3Gly)
c.67A>G
c.1402-10242A>G (n.1402-10242A>G)
c.2327A>G (p.Asp776Gly)
c.2507A>G (p.Asp836Gly)
c.2174A>G (p.Asp725Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.117592584A>TCA368981195CFTRc.2417A>T (p.Asp806Val)
c.*2131A>T (n.*2131A>T)
c.2234A>T (p.Asp745Val)
c.*717A>T (n.*717A>T)
c.*2241A>T (n.*2241A>T)
c.1991A>T (p.Asp664Val)
c.8A>T (p.Asp3Val)
c.67A>T
c.1402-10242A>T (n.1402-10242A>T)
c.2327A>T (p.Asp776Val)
c.2507A>T (p.Asp836Val)
c.2174A>T (p.Asp725Val)
7g.117592590_117592591dupCA254109CFTRc.2423_2424dup (p.Ser809IlefsTer13)
c.*2137_*2138dup (n.*2137_*2138dup)
c.2240_2241dup (p.Ser748IlefsTer13)
c.*723_*724dup (n.*723_*724dup)
c.*2247_*2248dup (n.*2247_*2248dup)
c.1997_1998dup (p.Ser667IlefsTer13)
c.14_15dup (p.Ser6IlefsTer13)
c.73_74dup
c.1402-10236_1402-10235dup (n.1402-10236_1402-10235dup)
c.2333_2334dup (p.Ser779IlefsTer13)
c.2513_2514dup (p.Ser839IlefsTer13)
c.2180_2181dup (p.Ser728IlefsTer13)
 ClinVar dbSNP
7g.117592585T>ACA368981198CFTRc.2418T>A (p.Asp806Glu)
c.*2132T>A (n.*2132T>A)
c.2235T>A (p.Asp745Glu)
c.*718T>A (n.*718T>A)
c.*2242T>A (n.*2242T>A)
c.1992T>A (p.Asp664Glu)
c.9T>A (p.Asp3Glu)
c.68T>A
c.1402-10241T>A (n.1402-10241T>A)
c.2328T>A (p.Asp776Glu)
c.2508T>A (p.Asp836Glu)
c.2175T>A (p.Asp725Glu)
 ClinVar dbSNP
7g.117592585T>CCA457448950CFTRc.2418T>C (p.Asp806=)
c.*2132T>C (n.*2132T>C)
c.2235T>C (p.Asp745=)
c.*718T>C (n.*718T>C)
c.*2242T>C (n.*2242T>C)
c.1992T>C (p.Asp664=)
c.9T>C (p.Asp3=)
c.68T>C
c.1402-10241T>C (n.1402-10241T>C)
c.2328T>C (p.Asp776=)
c.2508T>C (p.Asp836=)
c.2175T>C (p.Asp725=)
7g.117592585T>GCA368981200CFTRc.2418T>G (p.Asp806Glu)
c.*2132T>G (n.*2132T>G)
c.2235T>G (p.Asp745Glu)
c.*718T>G (n.*718T>G)
c.*2242T>G (n.*2242T>G)
c.1992T>G (p.Asp664Glu)
c.9T>G (p.Asp3Glu)
c.68T>G
c.1402-10241T>G (n.1402-10241T>G)
c.2328T>G (p.Asp776Glu)
c.2508T>G (p.Asp836Glu)
c.2175T>G (p.Asp725Glu)
7g.117592585T=CA1737395573CFTRc.2418T= (p.Asp806=)
c.*2132T= (n.*2132T=)
c.2235T= (p.Asp745=)
c.*718T= (n.*718T=)
c.*2242T= (n.*2242T=)
c.1992T= (p.Asp664=)
c.9T= (p.Asp3=)
c.68T=
c.1402-10241T= (n.1402-10241T=)
c.2328T= (p.Asp776=)
c.2508T= (p.Asp836=)
c.2175T= (p.Asp725=)
7g.117592586A=CA1737395576CFTRc.2419A= (p.Ile807=)
c.*2133A= (n.*2133A=)
c.2236A= (p.Ile746=)
c.*719A= (n.*719A=)
c.*2243A= (n.*2243A=)
c.1993A= (p.Ile665=)
c.10A= (p.Ile4=)
c.69A=
c.1402-10240A= (n.1402-10240A=)
c.2329A= (p.Ile777=)
c.2509A= (p.Ile837=)
c.2176A= (p.Ile726=)
7g.117592586A>CCA368981203CFTRc.2419A>C (p.Ile807Leu)
c.*2133A>C (n.*2133A>C)
c.2236A>C (p.Ile746Leu)
c.*719A>C (n.*719A>C)
c.*2243A>C (n.*2243A>C)
c.1993A>C (p.Ile665Leu)
c.10A>C (p.Ile4Leu)
c.69A>C
c.1402-10240A>C (n.1402-10240A>C)
c.2329A>C (p.Ile777Leu)
c.2509A>C (p.Ile837Leu)
c.2176A>C (p.Ile726Leu)
7g.117592586A>GCA368981205CFTRc.2419A>G (p.Ile807Val)
c.*2133A>G (n.*2133A>G)
c.2236A>G (p.Ile746Val)
c.*719A>G (n.*719A>G)
c.*2243A>G (n.*2243A>G)
c.1993A>G (p.Ile665Val)
c.10A>G (p.Ile4Val)
c.69A>G
c.1402-10240A>G (n.1402-10240A>G)
c.2329A>G (p.Ile777Val)
c.2509A>G (p.Ile837Val)
c.2176A>G (p.Ile726Val)
 ClinVar dbSNP gnomAD v3 gnomAD v4
7g.117592586A>TCA368981206CFTRc.2419A>T (p.Ile807Leu)
c.*2133A>T (n.*2133A>T)
c.2236A>T (p.Ile746Leu)
c.*719A>T (n.*719A>T)
c.*2243A>T (n.*2243A>T)
c.1993A>T (p.Ile665Leu)
c.10A>T (p.Ile4Leu)
c.69A>T
c.1402-10240A>T (n.1402-10240A>T)
c.2329A>T (p.Ile777Leu)
c.2509A>T (p.Ile837Leu)
c.2176A>T (p.Ile726Leu)
7g.117592587T>ACA368981210CFTRc.2420T>A (p.Ile807Lys)
c.*2134T>A (n.*2134T>A)
c.2237T>A (p.Ile746Lys)
c.*720T>A (n.*720T>A)
c.*2244T>A (n.*2244T>A)
c.1994T>A (p.Ile665Lys)
c.11T>A (p.Ile4Lys)
c.70T>A
c.1402-10239T>A (n.1402-10239T>A)
c.2330T>A (p.Ile777Lys)
c.2510T>A (p.Ile837Lys)
c.2177T>A (p.Ile726Lys)
7g.117592587T>CCA368981212CFTRc.2420T>C (p.Ile807Thr)
c.*2134T>C (n.*2134T>C)
c.2237T>C (p.Ile746Thr)
c.*720T>C (n.*720T>C)
c.*2244T>C (n.*2244T>C)
c.1994T>C (p.Ile665Thr)
c.11T>C (p.Ile4Thr)
c.70T>C
c.1402-10239T>C (n.1402-10239T>C)
c.2330T>C (p.Ile777Thr)
c.2510T>C (p.Ile837Thr)
c.2177T>C (p.Ile726Thr)
 ClinVar dbSNP
7g.117592587T>GCA368981208CFTRc.2420T>G (p.Ile807Arg)
c.*2134T>G (n.*2134T>G)
c.2237T>G (p.Ile746Arg)
c.*720T>G (n.*720T>G)
c.*2244T>G (n.*2244T>G)
c.1994T>G (p.Ile665Arg)
c.11T>G (p.Ile4Arg)
c.70T>G
c.1402-10239T>G (n.1402-10239T>G)
c.2330T>G (p.Ile777Arg)
c.2510T>G (p.Ile837Arg)
c.2177T>G (p.Ile726Arg)
7g.117592587T=CA1737395579CFTRc.2420T= (p.Ile807=)
c.*2134T= (n.*2134T=)
c.2237T= (p.Ile746=)
c.*720T= (n.*720T=)
c.*2244T= (n.*2244T=)
c.1994T= (p.Ile665=)
c.11T= (p.Ile4=)
c.70T=
c.1402-10239T= (n.1402-10239T=)
c.2330T= (p.Ile777=)
c.2510T= (p.Ile837=)
c.2177T= (p.Ile726=)
7g.117592588A=CA1737395586CFTRc.2421A= (p.Ile807=)
c.*2135A= (n.*2135A=)
c.2238A= (p.Ile746=)
c.*721A= (n.*721A=)
c.*2245A= (n.*2245A=)
c.1995A= (p.Ile665=)
c.12A= (p.Ile4=)
c.71A=
c.1402-10238A= (n.1402-10238A=)
c.2331A= (p.Ile777=)
c.2511A= (p.Ile837=)
c.2178A= (p.Ile726=)
7g.117592588A>CCA457448952CFTRc.2421A>C (p.Ile807=)
c.*2135A>C (n.*2135A>C)
c.2238A>C (p.Ile746=)
c.*721A>C (n.*721A>C)
c.*2245A>C (n.*2245A>C)
c.1995A>C (p.Ile665=)
c.12A>C (p.Ile4=)
c.71A>C
c.1402-10238A>C (n.1402-10238A>C)
c.2331A>C (p.Ile777=)
c.2511A>C (p.Ile837=)
c.2178A>C (p.Ile726=)
 ClinVar
7g.117592588A>GCA260217CFTRc.2421A>G (p.Ile807Met)
c.*2135A>G (n.*2135A>G)
c.2238A>G (p.Ile746Met)
c.*721A>G (n.*721A>G)
c.*2245A>G (n.*2245A>G)
c.1995A>G (p.Ile665Met)
c.12A>G (p.Ile4Met)
c.71A>G
c.1402-10238A>G (n.1402-10238A>G)
c.2331A>G (p.Ile777Met)
c.2511A>G (p.Ile837Met)
c.2178A>G (p.Ile726Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117592588A>TCA457448953CFTRc.2421A>T (p.Ile807=)
c.*2135A>T (n.*2135A>T)
c.2238A>T (p.Ile746=)
c.*721A>T (n.*721A>T)
c.*2245A>T (n.*2245A>T)
c.1995A>T (p.Ile665=)
c.12A>T (p.Ile4=)
c.71A>T
c.1402-10238A>T (n.1402-10238A>T)
c.2331A>T (p.Ile777=)
c.2511A>T (p.Ile837=)
c.2178A>T (p.Ile726=)
7g.117592589T>ACA368981220CFTRc.2422T>A (p.Tyr808Asn)
c.*2136T>A (n.*2136T>A)
c.2239T>A (p.Tyr747Asn)
c.*722T>A (n.*722T>A)
c.*2246T>A (n.*2246T>A)
c.1996T>A (p.Tyr666Asn)
c.13T>A (p.Tyr5Asn)
c.72T>A
c.1402-10237T>A (n.1402-10237T>A)
c.2332T>A (p.Tyr778Asn)
c.2512T>A (p.Tyr838Asn)
c.2179T>A (p.Tyr727Asn)
7g.117592589T>CCA368981217CFTRc.2422T>C (p.Tyr808His)
c.*2136T>C (n.*2136T>C)
c.2239T>C (p.Tyr747His)
c.*722T>C (n.*722T>C)
c.*2246T>C (n.*2246T>C)
c.1996T>C (p.Tyr666His)
c.13T>C (p.Tyr5His)
c.72T>C
c.1402-10237T>C (n.1402-10237T>C)
c.2332T>C (p.Tyr778His)
c.2512T>C (p.Tyr838His)
c.2179T>C (p.Tyr727His)
7g.117592589T>GCA368981219CFTRc.2422T>G (p.Tyr808Asp)
c.*2136T>G (n.*2136T>G)
c.2239T>G (p.Tyr747Asp)
c.*722T>G (n.*722T>G)
c.*2246T>G (n.*2246T>G)
c.1996T>G (p.Tyr666Asp)
c.13T>G (p.Tyr5Asp)
c.72T>G
c.1402-10237T>G (n.1402-10237T>G)
c.2332T>G (p.Tyr778Asp)
c.2512T>G (p.Tyr838Asp)
c.2179T>G (p.Tyr727Asp)
7g.117592590A=CA1737395592CFTRc.2423A= (p.Tyr808=)
c.*2137A= (n.*2137A=)
c.2240A= (p.Tyr747=)
c.*723A= (n.*723A=)
c.*2247A= (n.*2247A=)
c.1997A= (p.Tyr666=)
c.14A= (p.Tyr5=)
c.73A=
c.1402-10236A= (n.1402-10236A=)
c.2333A= (p.Tyr778=)
c.2513A= (p.Tyr838=)
c.2180A= (p.Tyr727=)
7g.117592590A>CCA368981223CFTRc.2423A>C (p.Tyr808Ser)
c.*2137A>C (n.*2137A>C)
c.2240A>C (p.Tyr747Ser)
c.*723A>C (n.*723A>C)
c.*2247A>C (n.*2247A>C)
c.1997A>C (p.Tyr666Ser)
c.14A>C (p.Tyr5Ser)
c.73A>C
c.1402-10236A>C (n.1402-10236A>C)
c.2333A>C (p.Tyr778Ser)
c.2513A>C (p.Tyr838Ser)
c.2180A>C (p.Tyr727Ser)
7g.117592590A>GCA368981225CFTRc.2423A>G (p.Tyr808Cys)
c.*2137A>G (n.*2137A>G)
c.2240A>G (p.Tyr747Cys)
c.*723A>G (n.*723A>G)
c.*2247A>G (n.*2247A>G)
c.1997A>G (p.Tyr666Cys)
c.14A>G (p.Tyr5Cys)
c.73A>G
c.1402-10236A>G (n.1402-10236A>G)
c.2333A>G (p.Tyr778Cys)
c.2513A>G (p.Tyr838Cys)
c.2180A>G (p.Tyr727Cys)
7g.117592590A>TCA368981227CFTRc.2423A>T (p.Tyr808Phe)
c.*2137A>T (n.*2137A>T)
c.2240A>T (p.Tyr747Phe)
c.*723A>T (n.*723A>T)
c.*2247A>T (n.*2247A>T)
c.1997A>T (p.Tyr666Phe)
c.14A>T (p.Tyr5Phe)
c.73A>T
c.1402-10236A>T (n.1402-10236A>T)
c.2333A>T (p.Tyr778Phe)
c.2513A>T (p.Tyr838Phe)
c.2180A>T (p.Tyr727Phe)
 ClinVar dbSNP
7g.117592591T>ACA368981228CFTRc.2424T>A (p.Tyr808Ter)
c.*2138T>A (n.*2138T>A)
c.2241T>A (p.Tyr747Ter)
c.*724T>A (n.*724T>A)
c.*2248T>A (n.*2248T>A)
c.1998T>A (p.Tyr666Ter)
c.15T>A (p.Tyr5Ter)
c.74T>A
c.1402-10235T>A (n.1402-10235T>A)
c.2334T>A (p.Tyr778Ter)
c.2514T>A (p.Tyr838Ter)
c.2181T>A (p.Tyr727Ter)
7g.117592591T>CCA4451181CFTRc.2424T>C (p.Tyr808=)
c.*2138T>C (n.*2138T>C)
c.2241T>C (p.Tyr747=)
c.*724T>C (n.*724T>C)
c.*2248T>C (n.*2248T>C)
c.1998T>C (p.Tyr666=)
c.15T>C (p.Tyr5=)
c.74T>C
c.1402-10235T>C (n.1402-10235T>C)
c.2334T>C (p.Tyr778=)
c.2514T>C (p.Tyr838=)
c.2181T>C (p.Tyr727=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117592591T>GCA368981230CFTRc.2424T>G (p.Tyr808Ter)
c.*2138T>G (n.*2138T>G)
c.2241T>G (p.Tyr747Ter)
c.*724T>G (n.*724T>G)
c.*2248T>G (n.*2248T>G)
c.1998T>G (p.Tyr666Ter)
c.15T>G (p.Tyr5Ter)
c.74T>G
c.1402-10235T>G (n.1402-10235T>G)
c.2334T>G (p.Tyr778Ter)
c.2514T>G (p.Tyr838Ter)
c.2181T>G (p.Tyr727Ter)
7g.117592591T=CA1737395597CFTRc.2424T= (p.Tyr808=)
c.*2138T= (n.*2138T=)
c.2241T= (p.Tyr747=)
c.*724T= (n.*724T=)
c.*2248T= (n.*2248T=)
c.1998T= (p.Tyr666=)
c.15T= (p.Tyr5=)
c.74T=
c.1402-10235T= (n.1402-10235T=)
c.2334T= (p.Tyr778=)
c.2514T= (p.Tyr838=)
c.2181T= (p.Tyr727=)
7g.117592592T>ACA368981233CFTRc.2425T>A (p.Ser809Thr)
c.*2139T>A (n.*2139T>A)
c.2242T>A (p.Ser748Thr)
c.*725T>A (n.*725T>A)
c.*2249T>A (n.*2249T>A)
c.1999T>A (p.Ser667Thr)
c.16T>A (p.Ser6Thr)
c.75T>A
c.1402-10234T>A (n.1402-10234T>A)
c.2335T>A (p.Ser779Thr)
c.2515T>A (p.Ser839Thr)
c.2182T>A (p.Ser728Thr)
7g.117592592T>CCA368981235CFTRc.2425T>C (p.Ser809Pro)
c.*2139T>C (n.*2139T>C)
c.2242T>C (p.Ser748Pro)
c.*725T>C (n.*725T>C)
c.*2249T>C (n.*2249T>C)
c.1999T>C (p.Ser667Pro)
c.16T>C (p.Ser6Pro)
c.75T>C
c.1402-10234T>C (n.1402-10234T>C)
c.2335T>C (p.Ser779Pro)
c.2515T>C (p.Ser839Pro)
c.2182T>C (p.Ser728Pro)
7g.117592592T>GCA368981236CFTRc.2425T>G (p.Ser809Ala)
c.*2139T>G (n.*2139T>G)
c.2242T>G (p.Ser748Ala)
c.*725T>G (n.*725T>G)
c.*2249T>G (n.*2249T>G)
c.1999T>G (p.Ser667Ala)
c.16T>G (p.Ser6Ala)
c.75T>G
c.1402-10234T>G (n.1402-10234T>G)
c.2335T>G (p.Ser779Ala)
c.2515T>G (p.Ser839Ala)
c.2182T>G (p.Ser728Ala)

Number of alleles fetched