Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.117591251_117595608delinsCTACATTTGTACTA | CA2580076490 | CFTR | c.1767-683_2619+550delinsCTACATTTGTACTA c.*1481-683_*2333+550delinsCTACATTTGTACTA c.1584-683_2436+550delinsCTACATTTGTACTA c.*67-683_*919+550delinsCTACATTTGTACTA c.*1591-683_*2443+550delinsCTACATTTGTACTA c.1341-683_2193+550delinsCTACATTTGTACTA c.1402-11575_1402-7218delinsCTACATTTGTACTA (n.1402-11575_1402-7218delinsCTACATTTGTACTA) c.1677-683_2529+550delinsCTACATTTGTACTA c.1857-683_2709+550delinsCTACATTTGTACTA c.1524-683_2376+550delinsCTACATTTGTACTA | ClinVar |
7 | g.117592505G>A | CA368981008 | CFTR | c.2338G>A (p.Gly780Ser) c.*2052G>A (n.*2052G>A) c.2155G>A (p.Gly719Ser) c.*638G>A (n.*638G>A) c.*2162G>A (n.*2162G>A) c.1912G>A (p.Gly638Ser) c.1402-10321G>A (n.1402-10321G>A) c.2248G>A (p.Gly750Ser) c.2428G>A (p.Gly810Ser) c.2095G>A (p.Gly699Ser) | gnomAD v4 |
7 | g.117592505G>C | CA368981009 | CFTR | c.2338G>C (p.Gly780Arg) c.*2052G>C (n.*2052G>C) c.2155G>C (p.Gly719Arg) c.*638G>C (n.*638G>C) c.*2162G>C (n.*2162G>C) c.1912G>C (p.Gly638Arg) c.1402-10321G>C (n.1402-10321G>C) c.2248G>C (p.Gly750Arg) c.2428G>C (p.Gly810Arg) c.2095G>C (p.Gly699Arg) | |
7 | g.117592505G>T | CA368981010 | CFTR | c.2338G>T (p.Gly780Cys) c.*2052G>T (n.*2052G>T) c.2155G>T (p.Gly719Cys) c.*638G>T (n.*638G>T) c.*2162G>T (n.*2162G>T) c.1912G>T (p.Gly638Cys) c.1402-10321G>T (n.1402-10321G>T) c.2248G>T (p.Gly750Cys) c.2428G>T (p.Gly810Cys) c.2095G>T (p.Gly699Cys) | gnomAD v4 |
7 | g.117592506del | CA2695208519 | CFTR | c.2339del (p.Gly780ValfsTer23) c.*2053del (n.*2053del) c.2156del (p.Gly719ValfsTer23) c.*639del (n.*639del) c.*2163del (n.*2163del) c.1913del (p.Gly638ValfsTer23) c.1402-10320del (n.1402-10320del) c.2249del (p.Gly750ValfsTer23) c.2429del (p.Gly810ValfsTer23) c.2096del (p.Gly699ValfsTer23) | |
7 | g.117592506G>A | CA368981011 | CFTR | c.2339G>A (p.Gly780Asp) c.*2053G>A (n.*2053G>A) c.2156G>A (p.Gly719Asp) c.*639G>A (n.*639G>A) c.*2163G>A (n.*2163G>A) c.1913G>A (p.Gly638Asp) c.1402-10320G>A (n.1402-10320G>A) c.2249G>A (p.Gly750Asp) c.2429G>A (p.Gly810Asp) c.2096G>A (p.Gly699Asp) | |
7 | g.117592506G>C | CA368981012 | CFTR | c.2339G>C (p.Gly780Ala) c.*2053G>C (n.*2053G>C) c.2156G>C (p.Gly719Ala) c.*639G>C (n.*639G>C) c.*2163G>C (n.*2163G>C) c.1913G>C (p.Gly638Ala) c.1402-10320G>C (n.1402-10320G>C) c.2249G>C (p.Gly750Ala) c.2429G>C (p.Gly810Ala) c.2096G>C (p.Gly699Ala) | |
7 | g.117592506G>T | CA368981013 | CFTR | c.2339G>T (p.Gly780Val) c.*2053G>T (n.*2053G>T) c.2156G>T (p.Gly719Val) c.*639G>T (n.*639G>T) c.*2163G>T (n.*2163G>T) c.1913G>T (p.Gly638Val) c.1402-10320G>T (n.1402-10320G>T) c.2249G>T (p.Gly750Val) c.2429G>T (p.Gly810Val) c.2096G>T (p.Gly699Val) | gnomAD v4 |
7 | g.117592507T>A | CA457449789 | CFTR | c.2340T>A (p.Gly780=) c.*2054T>A (n.*2054T>A) c.2157T>A (p.Gly719=) c.*640T>A (n.*640T>A) c.*2164T>A (n.*2164T>A) c.1914T>A (p.Gly638=) c.1402-10319T>A (n.1402-10319T>A) c.2250T>A (p.Gly750=) c.2430T>A (p.Gly810=) c.2097T>A (p.Gly699=) | |
7 | g.117592507T>C | CA457449791 | CFTR | c.2340T>C (p.Gly780=) c.*2054T>C (n.*2054T>C) c.2157T>C (p.Gly719=) c.*640T>C (n.*640T>C) c.*2164T>C (n.*2164T>C) c.1914T>C (p.Gly638=) c.1402-10319T>C (n.1402-10319T>C) c.2250T>C (p.Gly750=) c.2430T>C (p.Gly810=) c.2097T>C (p.Gly699=) | |
7 | g.117592507T>G | CA457449792 | CFTR | c.2340T>G (p.Gly780=) c.*2054T>G (n.*2054T>G) c.2157T>G (p.Gly719=) c.*640T>G (n.*640T>G) c.*2164T>G (n.*2164T>G) c.1914T>G (p.Gly638=) c.1402-10319T>G (n.1402-10319T>G) c.2250T>G (p.Gly750=) c.2430T>G (p.Gly810=) c.2097T>G (p.Gly699=) | |
7 | g.117592508C>A | CA368981014 | CFTR | c.2341C>A (p.Gln781Lys) c.*2055C>A (n.*2055C>A) c.2158C>A (p.Gln720Lys) c.*641C>A (n.*641C>A) c.*2165C>A (n.*2165C>A) c.1915C>A (p.Gln639Lys) c.1402-10318C>A (n.1402-10318C>A) c.2251C>A (p.Gln751Lys) c.2431C>A (p.Gln811Lys) c.2098C>A (p.Gln700Lys) | gnomAD v4 |
7 | g.117592508C= | CA1737395291 | CFTR | c.2341C= (p.Gln781=) c.*2055C= (n.*2055C=) c.2158C= (p.Gln720=) c.*641C= (n.*641C=) c.*2165C= (n.*2165C=) c.1915C= (p.Gln639=) c.1402-10318C= (n.1402-10318C=) c.2251C= (p.Gln751=) c.2431C= (p.Gln811=) c.2098C= (p.Gln700=) | |
7 | g.117592508C>G | CA368981015 | CFTR | c.2341C>G (p.Gln781Glu) c.*2055C>G (n.*2055C>G) c.2158C>G (p.Gln720Glu) c.*641C>G (n.*641C>G) c.*2165C>G (n.*2165C>G) c.1915C>G (p.Gln639Glu) c.1402-10318C>G (n.1402-10318C>G) c.2251C>G (p.Gln751Glu) c.2431C>G (p.Gln811Glu) c.2098C>G (p.Gln700Glu) | ClinVar gnomAD v4 |
7 | g.117592508C>T | CA326796 | CFTR | c.2341C>T (p.Gln781Ter) c.*2055C>T (n.*2055C>T) c.2158C>T (p.Gln720Ter) c.*641C>T (n.*641C>T) c.*2165C>T (n.*2165C>T) c.1915C>T (p.Gln639Ter) c.1402-10318C>T (n.1402-10318C>T) c.2251C>T (p.Gln751Ter) c.2431C>T (p.Gln811Ter) c.2098C>T (p.Gln700Ter) | ClinVar dbSNP |
7 | g.117592509A>C | CA368981016 | CFTR | c.2342A>C (p.Gln781Pro) c.*2056A>C (n.*2056A>C) c.2159A>C (p.Gln720Pro) c.*642A>C (n.*642A>C) c.*2166A>C (n.*2166A>C) c.1916A>C (p.Gln639Pro) c.1402-10317A>C (n.1402-10317A>C) c.2252A>C (p.Gln751Pro) c.2432A>C (p.Gln811Pro) c.2099A>C (p.Gln700Pro) | |
7 | g.117592509A>G | CA368981017 | CFTR | c.2342A>G (p.Gln781Arg) c.*2056A>G (n.*2056A>G) c.2159A>G (p.Gln720Arg) c.*642A>G (n.*642A>G) c.*2166A>G (n.*2166A>G) c.1916A>G (p.Gln639Arg) c.1402-10317A>G (n.1402-10317A>G) c.2252A>G (p.Gln751Arg) c.2432A>G (p.Gln811Arg) c.2099A>G (p.Gln700Arg) | ClinVar dbSNP gnomAD v4 |
7 | g.117592509A>T | CA368981018 | CFTR | c.2342A>T (p.Gln781Leu) c.*2056A>T (n.*2056A>T) c.2159A>T (p.Gln720Leu) c.*642A>T (n.*642A>T) c.*2166A>T (n.*2166A>T) c.1916A>T (p.Gln639Leu) c.1402-10317A>T (n.1402-10317A>T) c.2252A>T (p.Gln751Leu) c.2432A>T (p.Gln811Leu) c.2099A>T (p.Gln700Leu) | |
7 | g.117592510G>A | CA457449800 | CFTR | c.2343G>A (p.Gln781=) c.*2057G>A (n.*2057G>A) c.2160G>A (p.Gln720=) c.*643G>A (n.*643G>A) c.*2167G>A (n.*2167G>A) c.1917G>A (p.Gln639=) c.1402-10316G>A (n.1402-10316G>A) c.2253G>A (p.Gln751=) c.2433G>A (p.Gln811=) c.2100G>A (p.Gln700=) | |
7 | g.117592510G>C | CA368981019 | CFTR | c.2343G>C (p.Gln781His) c.*2057G>C (n.*2057G>C) c.2160G>C (p.Gln720His) c.*643G>C (n.*643G>C) c.*2167G>C (n.*2167G>C) c.1917G>C (p.Gln639His) c.1402-10316G>C (n.1402-10316G>C) c.2253G>C (p.Gln751His) c.2433G>C (p.Gln811His) c.2100G>C (p.Gln700His) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.117592510G= | CA1737395294 | CFTR | c.2343G= (p.Gln781=) c.*2057G= (n.*2057G=) c.2160G= (p.Gln720=) c.*643G= (n.*643G=) c.*2167G= (n.*2167G=) c.1917G= (p.Gln639=) c.1402-10316G= (n.1402-10316G=) c.2253G= (p.Gln751=) c.2433G= (p.Gln811=) c.2100G= (p.Gln700=) | |
7 | g.117592510G>T | CA368981020 | CFTR | c.2343G>T (p.Gln781His) c.*2057G>T (n.*2057G>T) c.2160G>T (p.Gln720His) c.*643G>T (n.*643G>T) c.*2167G>T (n.*2167G>T) c.1917G>T (p.Gln639His) c.1402-10316G>T (n.1402-10316G>T) c.2253G>T (p.Gln751His) c.2433G>T (p.Gln811His) c.2100G>T (p.Gln700His) | |
7 | g.117592511A>C | CA368981021 | CFTR | c.2344A>C (p.Asn782His) c.*2058A>C (n.*2058A>C) c.2161A>C (p.Asn721His) c.*644A>C (n.*644A>C) c.*2168A>C (n.*2168A>C) c.1918A>C (p.Asn640His) c.1402-10315A>C (n.1402-10315A>C) c.2254A>C (p.Asn752His) c.2434A>C (p.Asn812His) c.2101A>C (p.Asn701His) | |
7 | g.117592511A>G | CA368981022 | CFTR | c.2344A>G (p.Asn782Asp) c.*2058A>G (n.*2058A>G) c.2161A>G (p.Asn721Asp) c.*644A>G (n.*644A>G) c.*2168A>G (n.*2168A>G) c.1918A>G (p.Asn640Asp) c.1402-10315A>G (n.1402-10315A>G) c.2254A>G (p.Asn752Asp) c.2434A>G (p.Asn812Asp) c.2101A>G (p.Asn701Asp) | |
7 | g.117592511A>T | CA368981023 | CFTR | c.2344A>T (p.Asn782Tyr) c.*2058A>T (n.*2058A>T) c.2161A>T (p.Asn721Tyr) c.*644A>T (n.*644A>T) c.*2168A>T (n.*2168A>T) c.1918A>T (p.Asn640Tyr) c.1402-10315A>T (n.1402-10315A>T) c.2254A>T (p.Asn752Tyr) c.2434A>T (p.Asn812Tyr) c.2101A>T (p.Asn701Tyr) | |
7 | g.117592512A= | CA1737395296 | CFTR | c.2345A= (p.Asn782=) c.*2059A= (n.*2059A=) c.2162A= (p.Asn721=) c.*645A= (n.*645A=) c.*2169A= (n.*2169A=) c.1919A= (p.Asn640=) c.1402-10314A= (n.1402-10314A=) c.2255A= (p.Asn752=) c.2435A= (p.Asn812=) c.2102A= (p.Asn701=) | |
7 | g.117592512A>C | CA368981024 | CFTR | c.2345A>C (p.Asn782Thr) c.*2059A>C (n.*2059A>C) c.2162A>C (p.Asn721Thr) c.*645A>C (n.*645A>C) c.*2169A>C (n.*2169A>C) c.1919A>C (p.Asn640Thr) c.1402-10314A>C (n.1402-10314A>C) c.2255A>C (p.Asn752Thr) c.2435A>C (p.Asn812Thr) c.2102A>C (p.Asn701Thr) | dbSNP |
7 | g.117592512A>G | CA368981025 | CFTR | c.2345A>G (p.Asn782Ser) c.*2059A>G (n.*2059A>G) c.2162A>G (p.Asn721Ser) c.*645A>G (n.*645A>G) c.*2169A>G (n.*2169A>G) c.1919A>G (p.Asn640Ser) c.1402-10314A>G (n.1402-10314A>G) c.2255A>G (p.Asn752Ser) c.2435A>G (p.Asn812Ser) c.2102A>G (p.Asn701Ser) | |
7 | g.117592512A>T | CA368981026 | CFTR | c.2345A>T (p.Asn782Ile) c.*2059A>T (n.*2059A>T) c.2162A>T (p.Asn721Ile) c.*645A>T (n.*645A>T) c.*2169A>T (n.*2169A>T) c.1919A>T (p.Asn640Ile) c.1402-10314A>T (n.1402-10314A>T) c.2255A>T (p.Asn752Ile) c.2435A>T (p.Asn812Ile) c.2102A>T (p.Asn701Ile) | |
7 | g.117592513C>A | CA326798 | CFTR | c.2346C>A (p.Asn782Lys) c.*2060C>A (n.*2060C>A) c.2163C>A (p.Asn721Lys) c.*646C>A (n.*646C>A) c.*2170C>A (n.*2170C>A) c.1920C>A (p.Asn640Lys) c.1402-10313C>A (n.1402-10313C>A) c.2256C>A (p.Asn752Lys) c.2436C>A (p.Asn812Lys) c.2103C>A (p.Asn701Lys) | ClinVar dbSNP gnomAD v4 |
7 | g.117592513C= | CA1737395301 | CFTR | c.2346C= (p.Asn782=) c.*2060C= (n.*2060C=) c.2163C= (p.Asn721=) c.*646C= (n.*646C=) c.*2170C= (n.*2170C=) c.1920C= (p.Asn640=) c.1402-10313C= (n.1402-10313C=) c.2256C= (p.Asn752=) c.2436C= (p.Asn812=) c.2103C= (p.Asn701=) | |
7 | g.117592513C>G | CA368981027 | CFTR | c.2346C>G (p.Asn782Lys) c.*2060C>G (n.*2060C>G) c.2163C>G (p.Asn721Lys) c.*646C>G (n.*646C>G) c.*2170C>G (n.*2170C>G) c.1920C>G (p.Asn640Lys) c.1402-10313C>G (n.1402-10313C>G) c.2256C>G (p.Asn752Lys) c.2436C>G (p.Asn812Lys) c.2103C>G (p.Asn701Lys) | |
7 | g.117592513C>T | CA164948226 | CFTR | c.2346C>T (p.Asn782=) c.*2060C>T (n.*2060C>T) c.2163C>T (p.Asn721=) c.*646C>T (n.*646C>T) c.*2170C>T (n.*2170C>T) c.1920C>T (p.Asn640=) c.1402-10313C>T (n.1402-10313C>T) c.2256C>T (p.Asn752=) c.2436C>T (p.Asn812=) c.2103C>T (p.Asn701=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.117592514A= | CA1737395304 | CFTR | c.2347A= (p.Ile783=) c.*2061A= (n.*2061A=) c.2164A= (p.Ile722=) c.*647A= (n.*647A=) c.*2171A= (n.*2171A=) c.1921A= (p.Ile641=) c.1402-10312A= (n.1402-10312A=) c.2257A= (p.Ile753=) c.2437A= (p.Ile813=) c.2104A= (p.Ile702=) | |
7 | g.117592514A>C | CA368981028 | CFTR | c.2347A>C (p.Ile783Leu) c.*2061A>C (n.*2061A>C) c.2164A>C (p.Ile722Leu) c.*647A>C (n.*647A>C) c.*2171A>C (n.*2171A>C) c.1921A>C (p.Ile641Leu) c.1402-10312A>C (n.1402-10312A>C) c.2257A>C (p.Ile753Leu) c.2437A>C (p.Ile813Leu) c.2104A>C (p.Ile702Leu) | |
7 | g.117592514A>G | CA4451173 | CFTR | c.2347A>G (p.Ile783Val) c.*2061A>G (n.*2061A>G) c.2164A>G (p.Ile722Val) c.*647A>G (n.*647A>G) c.*2171A>G (n.*2171A>G) c.1921A>G (p.Ile641Val) c.1402-10312A>G (n.1402-10312A>G) c.2257A>G (p.Ile753Val) c.2437A>G (p.Ile813Val) c.2104A>G (p.Ile702Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117592514A>T | CA368981029 | CFTR | c.2347A>T (p.Ile783Phe) c.*2061A>T (n.*2061A>T) c.2164A>T (p.Ile722Phe) c.*647A>T (n.*647A>T) c.*2171A>T (n.*2171A>T) c.1921A>T (p.Ile641Phe) c.1402-10312A>T (n.1402-10312A>T) c.2257A>T (p.Ile753Phe) c.2437A>T (p.Ile813Phe) c.2104A>T (p.Ile702Phe) | |
7 | g.117592515T>A | CA368981030 | CFTR | c.2348T>A (p.Ile783Asn) c.*2062T>A (n.*2062T>A) c.2165T>A (p.Ile722Asn) c.*648T>A (n.*648T>A) c.*2172T>A (n.*2172T>A) c.1922T>A (p.Ile641Asn) c.1402-10311T>A (n.1402-10311T>A) c.2258T>A (p.Ile753Asn) c.2438T>A (p.Ile813Asn) c.2105T>A (p.Ile702Asn) | |
7 | g.117592515T>C | CA368981031 | CFTR | c.2348T>C (p.Ile783Thr) c.*2062T>C (n.*2062T>C) c.2165T>C (p.Ile722Thr) c.*648T>C (n.*648T>C) c.*2172T>C (n.*2172T>C) c.1922T>C (p.Ile641Thr) c.1402-10311T>C (n.1402-10311T>C) c.2258T>C (p.Ile753Thr) c.2438T>C (p.Ile813Thr) c.2105T>C (p.Ile702Thr) | |
7 | g.117592515T>G | CA4451174 | CFTR | c.2348T>G (p.Ile783Ser) c.*2062T>G (n.*2062T>G) c.2165T>G (p.Ile722Ser) c.*648T>G (n.*648T>G) c.*2172T>G (n.*2172T>G) c.1922T>G (p.Ile641Ser) c.1402-10311T>G (n.1402-10311T>G) c.2258T>G (p.Ile753Ser) c.2438T>G (p.Ile813Ser) c.2105T>G (p.Ile702Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117592515T= | CA1737395307 | CFTR | c.2348T= (p.Ile783=) c.*2062T= (n.*2062T=) c.2165T= (p.Ile722=) c.*648T= (n.*648T=) c.*2172T= (n.*2172T=) c.1922T= (p.Ile641=) c.1402-10311T= (n.1402-10311T=) c.2258T= (p.Ile753=) c.2438T= (p.Ile813=) c.2105T= (p.Ile702=) | |
7 | g.117592516dup | CA2695208520 | CFTR | c.2349dup (p.His784SerfsTer21) c.*2063dup (n.*2063dup) c.2166dup (p.His723SerfsTer21) c.*649dup (n.*649dup) c.*2173dup (n.*2173dup) c.1923dup (p.His642SerfsTer21) c.1402-10310dup (n.1402-10310dup) c.2259dup (p.His754SerfsTer21) c.2439dup (p.His814SerfsTer21) c.2106dup (p.His703SerfsTer21) | |
7 | g.117592516T>A | CA457449818 | CFTR | c.2349T>A (p.Ile783=) c.*2063T>A (n.*2063T>A) c.2166T>A (p.Ile722=) c.*649T>A (n.*649T>A) c.*2173T>A (n.*2173T>A) c.1923T>A (p.Ile641=) c.1402-10310T>A (n.1402-10310T>A) c.2259T>A (p.Ile753=) c.2439T>A (p.Ile813=) c.2106T>A (p.Ile702=) | |
7 | g.117592516T>C | CA457449822 | CFTR | c.2349T>C (p.Ile783=) c.*2063T>C (n.*2063T>C) c.2166T>C (p.Ile722=) c.*649T>C (n.*649T>C) c.*2173T>C (n.*2173T>C) c.1923T>C (p.Ile641=) c.1402-10310T>C (n.1402-10310T>C) c.2259T>C (p.Ile753=) c.2439T>C (p.Ile813=) c.2106T>C (p.Ile702=) | gnomAD v4 |
7 | g.117592516T>G | CA368981032 | CFTR | c.2349T>G (p.Ile783Met) c.*2063T>G (n.*2063T>G) c.2166T>G (p.Ile722Met) c.*649T>G (n.*649T>G) c.*2173T>G (n.*2173T>G) c.1923T>G (p.Ile641Met) c.1402-10310T>G (n.1402-10310T>G) c.2259T>G (p.Ile753Met) c.2439T>G (p.Ile813Met) c.2106T>G (p.Ile702Met) | |
7 | g.117592517C>A | CA368981033 | CFTR | c.2350C>A (p.His784Asn) c.*2064C>A (n.*2064C>A) c.2167C>A (p.His723Asn) c.*650C>A (n.*650C>A) c.*2174C>A (n.*2174C>A) c.1924C>A (p.His642Asn) c.1402-10309C>A (n.1402-10309C>A) c.2260C>A (p.His754Asn) c.2440C>A (p.His814Asn) c.2107C>A (p.His703Asn) | |
7 | g.117592517C= | CA1737395308 | CFTR | c.2350C= (p.His784=) c.*2064C= (n.*2064C=) c.2167C= (p.His723=) c.*650C= (n.*650C=) c.*2174C= (n.*2174C=) c.1924C= (p.His642=) c.1402-10309C= (n.1402-10309C=) c.2260C= (p.His754=) c.2440C= (p.His814=) c.2107C= (p.His703=) | |
7 | g.117592517C>G | CA368981034 | CFTR | c.2350C>G (p.His784Asp) c.*2064C>G (n.*2064C>G) c.2167C>G (p.His723Asp) c.*650C>G (n.*650C>G) c.*2174C>G (n.*2174C>G) c.1924C>G (p.His642Asp) c.1402-10309C>G (n.1402-10309C>G) c.2260C>G (p.His754Asp) c.2440C>G (p.His814Asp) c.2107C>G (p.His703Asp) | ClinVar dbSNP |
7 | g.117592517C>T | CA368981035 | CFTR | c.2350C>T (p.His784Tyr) c.*2064C>T (n.*2064C>T) c.2167C>T (p.His723Tyr) c.*650C>T (n.*650C>T) c.*2174C>T (n.*2174C>T) c.1924C>T (p.His642Tyr) c.1402-10309C>T (n.1402-10309C>T) c.2260C>T (p.His754Tyr) c.2440C>T (p.His814Tyr) c.2107C>T (p.His703Tyr) | |
7 | g.117592518A>C | CA368981036 | CFTR | c.2351A>C (p.His784Pro) c.*2065A>C (n.*2065A>C) c.2168A>C (p.His723Pro) c.*651A>C (n.*651A>C) c.*2175A>C (n.*2175A>C) c.1925A>C (p.His642Pro) c.1A>C c.1402-10308A>C (n.1402-10308A>C) c.2261A>C (p.His754Pro) c.2441A>C (p.His814Pro) c.2108A>C (p.His703Pro) | |
7 | g.117592518A>G | CA368981037 | CFTR | c.2351A>G (p.His784Arg) c.*2065A>G (n.*2065A>G) c.2168A>G (p.His723Arg) c.*651A>G (n.*651A>G) c.*2175A>G (n.*2175A>G) c.1925A>G (p.His642Arg) c.1A>G c.1402-10308A>G (n.1402-10308A>G) c.2261A>G (p.His754Arg) c.2441A>G (p.His814Arg) c.2108A>G (p.His703Arg) | gnomAD v4 COSMIC |
7 | g.117592518A>T | CA368981038 | CFTR | c.2351A>T (p.His784Leu) c.*2065A>T (n.*2065A>T) c.2168A>T (p.His723Leu) c.*651A>T (n.*651A>T) c.*2175A>T (n.*2175A>T) c.1925A>T (p.His642Leu) c.1A>T c.1402-10308A>T (n.1402-10308A>T) c.2261A>T (p.His754Leu) c.2441A>T (p.His814Leu) c.2108A>T (p.His703Leu) | |
7 | g.117592519C>A | CA368981039 | CFTR | c.2352C>A (p.His784Gln) c.*2066C>A (n.*2066C>A) c.2169C>A (p.His723Gln) c.*652C>A (n.*652C>A) c.*2176C>A (n.*2176C>A) c.1926C>A (p.His642Gln) c.2C>A c.1402-10307C>A (n.1402-10307C>A) c.2262C>A (p.His754Gln) c.2442C>A (p.His814Gln) c.2109C>A (p.His703Gln) | |
7 | g.117592519C>G | CA368981040 | CFTR | c.2352C>G (p.His784Gln) c.*2066C>G (n.*2066C>G) c.2169C>G (p.His723Gln) c.*652C>G (n.*652C>G) c.*2176C>G (n.*2176C>G) c.1926C>G (p.His642Gln) c.2C>G c.1402-10307C>G (n.1402-10307C>G) c.2262C>G (p.His754Gln) c.2442C>G (p.His814Gln) c.2109C>G (p.His703Gln) | |
7 | g.117592519C>T | CA457449829 | CFTR | c.2352C>T (p.His784=) c.*2066C>T (n.*2066C>T) c.2169C>T (p.His723=) c.*652C>T (n.*652C>T) c.*2176C>T (n.*2176C>T) c.1926C>T (p.His642=) c.2C>T c.1402-10307C>T (n.1402-10307C>T) c.2262C>T (p.His754=) c.2442C>T (p.His814=) c.2109C>T (p.His703=) | |
7 | g.117592520C>A | CA457449830 | CFTR | c.2353C>A (p.Arg785=) c.*2067C>A (n.*2067C>A) c.2170C>A (p.Arg724=) c.*653C>A (n.*653C>A) c.*2177C>A (n.*2177C>A) c.1927C>A (p.Arg643=) c.3C>A c.1402-10306C>A (n.1402-10306C>A) c.2263C>A (p.Arg755=) c.2443C>A (p.Arg815=) c.2110C>A (p.Arg704=) | |
7 | g.117592520C= | CA1737395314 | CFTR | c.2353C= (p.Arg785=) c.*2067C= (n.*2067C=) c.2170C= (p.Arg724=) c.*653C= (n.*653C=) c.*2177C= (n.*2177C=) c.1927C= (p.Arg643=) c.3C= c.1402-10306C= (n.1402-10306C=) c.2263C= (p.Arg755=) c.2443C= (p.Arg815=) c.2110C= (p.Arg704=) | |
7 | g.117592520C>G | CA368981041 | CFTR | c.2353C>G (p.Arg785Gly) c.*2067C>G (n.*2067C>G) c.2170C>G (p.Arg724Gly) c.*653C>G (n.*653C>G) c.*2177C>G (n.*2177C>G) c.1927C>G (p.Arg643Gly) c.3C>G c.1402-10306C>G (n.1402-10306C>G) c.2263C>G (p.Arg755Gly) c.2443C>G (p.Arg815Gly) c.2110C>G (p.Arg704Gly) | ClinVar |
7 | g.117592520C>T | CA326800 | CFTR | c.2353C>T (p.Arg785Ter) c.*2067C>T (n.*2067C>T) c.2170C>T (p.Arg724Ter) c.*653C>T (n.*653C>T) c.*2177C>T (n.*2177C>T) c.1927C>T (p.Arg643Ter) c.3C>T c.1402-10306C>T (n.1402-10306C>T) c.2263C>T (p.Arg755Ter) c.2443C>T (p.Arg815Ter) c.2110C>T (p.Arg704Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117592521G>A | CA4451175 | CFTR | c.2354G>A (p.Arg785Gln) c.*2068G>A (n.*2068G>A) c.2171G>A (p.Arg724Gln) c.*654G>A (n.*654G>A) c.*2178G>A (n.*2178G>A) c.1928G>A (p.Arg643Gln) c.4G>A c.1402-10305G>A (n.1402-10305G>A) c.2264G>A (p.Arg755Gln) c.2444G>A (p.Arg815Gln) c.2111G>A (p.Arg704Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117592521G>C | CA4451176 | CFTR | c.2354G>C (p.Arg785Pro) c.*2068G>C (n.*2068G>C) c.2171G>C (p.Arg724Pro) c.*654G>C (n.*654G>C) c.*2178G>C (n.*2178G>C) c.1928G>C (p.Arg643Pro) c.4G>C c.1402-10305G>C (n.1402-10305G>C) c.2264G>C (p.Arg755Pro) c.2444G>C (p.Arg815Pro) c.2111G>C (p.Arg704Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.117592521G= | CA1737395323 | CFTR | c.2354G= (p.Arg785=) c.*2068G= (n.*2068G=) c.2171G= (p.Arg724=) c.*654G= (n.*654G=) c.*2178G= (n.*2178G=) c.1928G= (p.Arg643=) c.4G= c.1402-10305G= (n.1402-10305G=) c.2264G= (p.Arg755=) c.2444G= (p.Arg815=) c.2111G= (p.Arg704=) | |
7 | g.117592521G>T | CA368981042 | CFTR | c.2354G>T (p.Arg785Leu) c.*2068G>T (n.*2068G>T) c.2171G>T (p.Arg724Leu) c.*654G>T (n.*654G>T) c.*2178G>T (n.*2178G>T) c.1928G>T (p.Arg643Leu) c.4G>T c.1402-10305G>T (n.1402-10305G>T) c.2264G>T (p.Arg755Leu) c.2444G>T (p.Arg815Leu) c.2111G>T (p.Arg704Leu) | ClinVar dbSNP gnomAD v4 |
7 | g.117592521_117592528dup | CA2695208521 | CFTR | c.2354_2361dup (p.Thr788GlufsTer18) c.*2068_*2075dup (n.*2068_*2075dup) c.2171_2178dup (p.Thr727GlufsTer18) c.*654_*661dup (n.*654_*661dup) c.*2178_*2185dup (n.*2178_*2185dup) c.1928_1935dup (p.Thr646GlufsTer18) c.4_11dup c.1402-10305_1402-10298dup (n.1402-10305_1402-10298dup) c.2264_2271dup (p.Thr758GlufsTer18) c.2444_2451dup (p.Thr818GlufsTer18) c.2111_2118dup (p.Thr707GlufsTer18) | |
7 | g.117592522A>C | CA457449839 | CFTR | c.2355A>C (p.Arg785=) c.*2069A>C (n.*2069A>C) c.2172A>C (p.Arg724=) c.*655A>C (n.*655A>C) c.*2179A>C (n.*2179A>C) c.1929A>C (p.Arg643=) c.5A>C c.1402-10304A>C (n.1402-10304A>C) c.2265A>C (p.Arg755=) c.2445A>C (p.Arg815=) c.2112A>C (p.Arg704=) | |
7 | g.117592522A>G | CA457449840 | CFTR | c.2355A>G (p.Arg785=) c.*2069A>G (n.*2069A>G) c.2172A>G (p.Arg724=) c.*655A>G (n.*655A>G) c.*2179A>G (n.*2179A>G) c.1929A>G (p.Arg643=) c.5A>G c.1402-10304A>G (n.1402-10304A>G) c.2265A>G (p.Arg755=) c.2445A>G (p.Arg815=) c.2112A>G (p.Arg704=) | |
7 | g.117592522A>T | CA457449841 | CFTR | c.2355A>T (p.Arg785=) c.*2069A>T (n.*2069A>T) c.2172A>T (p.Arg724=) c.*655A>T (n.*655A>T) c.*2179A>T (n.*2179A>T) c.1929A>T (p.Arg643=) c.5A>T c.1402-10304A>T (n.1402-10304A>T) c.2265A>T (p.Arg755=) c.2445A>T (p.Arg815=) c.2112A>T (p.Arg704=) | |
7 | g.117592523A>C | CA368981043 | CFTR | c.2356A>C (p.Lys786Gln) c.*2070A>C (n.*2070A>C) c.2173A>C (p.Lys725Gln) c.*656A>C (n.*656A>C) c.*2180A>C (n.*2180A>C) c.1930A>C (p.Lys644Gln) c.6A>C c.1402-10303A>C (n.1402-10303A>C) c.2266A>C (p.Lys756Gln) c.2446A>C (p.Lys816Gln) c.2113A>C (p.Lys705Gln) | |
7 | g.117592523A>G | CA368981045 | CFTR | c.2356A>G (p.Lys786Glu) c.*2070A>G (n.*2070A>G) c.2173A>G (p.Lys725Glu) c.*656A>G (n.*656A>G) c.*2180A>G (n.*2180A>G) c.1930A>G (p.Lys644Glu) c.6A>G c.1402-10303A>G (n.1402-10303A>G) c.2266A>G (p.Lys756Glu) c.2446A>G (p.Lys816Glu) c.2113A>G (p.Lys705Glu) | |
7 | g.117592523A>T | CA368981044 | CFTR | c.2356A>T (p.Lys786Ter) c.*2070A>T (n.*2070A>T) c.2173A>T (p.Lys725Ter) c.*656A>T (n.*656A>T) c.*2180A>T (n.*2180A>T) c.1930A>T (p.Lys644Ter) c.6A>T c.1402-10303A>T (n.1402-10303A>T) c.2266A>T (p.Lys756Ter) c.2446A>T (p.Lys816Ter) c.2113A>T (p.Lys705Ter) | |
7 | g.117592524A>C | CA368981046 | CFTR | c.2357A>C (p.Lys786Thr) c.*2071A>C (n.*2071A>C) c.2174A>C (p.Lys725Thr) c.*657A>C (n.*657A>C) c.*2181A>C (n.*2181A>C) c.1931A>C (p.Lys644Thr) c.7A>C c.1402-10302A>C (n.1402-10302A>C) c.2267A>C (p.Lys756Thr) c.2447A>C (p.Lys816Thr) c.2114A>C (p.Lys705Thr) | |
7 | g.117592524A>G | CA368981047 | CFTR | c.2357A>G (p.Lys786Arg) c.*2071A>G (n.*2071A>G) c.2174A>G (p.Lys725Arg) c.*657A>G (n.*657A>G) c.*2181A>G (n.*2181A>G) c.1931A>G (p.Lys644Arg) c.7A>G c.1402-10302A>G (n.1402-10302A>G) c.2267A>G (p.Lys756Arg) c.2447A>G (p.Lys816Arg) c.2114A>G (p.Lys705Arg) | |
7 | g.117592524A>T | CA368981048 | CFTR | c.2357A>T (p.Lys786Met) c.*2071A>T (n.*2071A>T) c.2174A>T (p.Lys725Met) c.*657A>T (n.*657A>T) c.*2181A>T (n.*2181A>T) c.1931A>T (p.Lys644Met) c.7A>T c.1402-10302A>T (n.1402-10302A>T) c.2267A>T (p.Lys756Met) c.2447A>T (p.Lys816Met) c.2114A>T (p.Lys705Met) | |
7 | g.117592525G>A | CA457449854 | CFTR | c.2358G>A (p.Lys786=) c.*2072G>A (n.*2072G>A) c.2175G>A (p.Lys725=) c.*658G>A (n.*658G>A) c.*2182G>A (n.*2182G>A) c.1932G>A (p.Lys644=) c.8G>A c.1402-10301G>A (n.1402-10301G>A) c.2268G>A (p.Lys756=) c.2448G>A (p.Lys816=) c.2115G>A (p.Lys705=) | dbSNP |
7 | g.117592525G>C | CA4451177 | CFTR | c.2358G>C (p.Lys786Asn) c.*2072G>C (n.*2072G>C) c.2175G>C (p.Lys725Asn) c.*658G>C (n.*658G>C) c.*2182G>C (n.*2182G>C) c.1932G>C (p.Lys644Asn) c.8G>C c.1402-10301G>C (n.1402-10301G>C) c.2268G>C (p.Lys756Asn) c.2448G>C (p.Lys816Asn) c.2115G>C (p.Lys705Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.117592525G= | CA1737395330 | CFTR | c.2358G= (p.Lys786=) c.*2072G= (n.*2072G=) c.2175G= (p.Lys725=) c.*658G= (n.*658G=) c.*2182G= (n.*2182G=) c.1932G= (p.Lys644=) c.8G= c.1402-10301G= (n.1402-10301G=) c.2268G= (p.Lys756=) c.2448G= (p.Lys816=) c.2115G= (p.Lys705=) | |
7 | g.117592525G>T | CA368981049 | CFTR | c.2358G>T (p.Lys786Asn) c.*2072G>T (n.*2072G>T) c.2175G>T (p.Lys725Asn) c.*658G>T (n.*658G>T) c.*2182G>T (n.*2182G>T) c.1932G>T (p.Lys644Asn) c.8G>T c.1402-10301G>T (n.1402-10301G>T) c.2268G>T (p.Lys756Asn) c.2448G>T (p.Lys816Asn) c.2115G>T (p.Lys705Asn) | gnomAD v4 |
7 | g.117592526A>C | CA368981052 | CFTR | c.2359A>C (p.Thr787Pro) c.*2073A>C (n.*2073A>C) c.2176A>C (p.Thr726Pro) c.*659A>C (n.*659A>C) c.*2183A>C (n.*2183A>C) c.1933A>C (p.Thr645Pro) c.9A>C c.1402-10300A>C (n.1402-10300A>C) c.2269A>C (p.Thr757Pro) c.2449A>C (p.Thr817Pro) c.2116A>C (p.Thr706Pro) | |
7 | g.117592526A>G | CA368981051 | CFTR | c.2359A>G (p.Thr787Ala) c.*2073A>G (n.*2073A>G) c.2176A>G (p.Thr726Ala) c.*659A>G (n.*659A>G) c.*2183A>G (n.*2183A>G) c.1933A>G (p.Thr645Ala) c.9A>G c.1402-10300A>G (n.1402-10300A>G) c.2269A>G (p.Thr757Ala) c.2449A>G (p.Thr817Ala) c.2116A>G (p.Thr706Ala) | |
7 | g.117592526A>T | CA368981050 | CFTR | c.2359A>T (p.Thr787Ser) c.*2073A>T (n.*2073A>T) c.2176A>T (p.Thr726Ser) c.*659A>T (n.*659A>T) c.*2183A>T (n.*2183A>T) c.1933A>T (p.Thr645Ser) c.9A>T c.1402-10300A>T (n.1402-10300A>T) c.2269A>T (p.Thr757Ser) c.2449A>T (p.Thr817Ser) c.2116A>T (p.Thr706Ser) | |
7 | g.117592527C>A | CA368981053 | CFTR | c.2360C>A (p.Thr787Lys) c.*2074C>A (n.*2074C>A) c.2177C>A (p.Thr726Lys) c.*660C>A (n.*660C>A) c.*2184C>A (n.*2184C>A) c.1934C>A (p.Thr645Lys) c.10C>A c.1402-10299C>A (n.1402-10299C>A) c.2270C>A (p.Thr757Lys) c.2450C>A (p.Thr817Lys) c.2117C>A (p.Thr706Lys) | ClinVar dbSNP gnomAD v4 |
7 | g.117592527C>G | CA368981054 | CFTR | c.2360C>G (p.Thr787Arg) c.*2074C>G (n.*2074C>G) c.2177C>G (p.Thr726Arg) c.*660C>G (n.*660C>G) c.*2184C>G (n.*2184C>G) c.1934C>G (p.Thr645Arg) c.10C>G c.1402-10299C>G (n.1402-10299C>G) c.2270C>G (p.Thr757Arg) c.2450C>G (p.Thr817Arg) c.2117C>G (p.Thr706Arg) | |
7 | g.117592527C>T | CA368981055 | CFTR | c.2360C>T (p.Thr787Ile) c.*2074C>T (n.*2074C>T) c.2177C>T (p.Thr726Ile) c.*660C>T (n.*660C>T) c.*2184C>T (n.*2184C>T) c.1934C>T (p.Thr645Ile) c.10C>T c.1402-10299C>T (n.1402-10299C>T) c.2270C>T (p.Thr757Ile) c.2450C>T (p.Thr817Ile) c.2117C>T (p.Thr706Ile) | gnomAD v4 |
7 | g.117592528A>C | CA457449862 | CFTR | c.2361A>C (p.Thr787=) c.*2075A>C (n.*2075A>C) c.2178A>C (p.Thr726=) c.*661A>C (n.*661A>C) c.*2185A>C (n.*2185A>C) c.1935A>C (p.Thr645=) c.11A>C c.1402-10298A>C (n.1402-10298A>C) c.2271A>C (p.Thr757=) c.2451A>C (p.Thr817=) c.2118A>C (p.Thr706=) | |
7 | g.117592528A>G | CA457449864 | CFTR | c.2361A>G (p.Thr787=) c.*2075A>G (n.*2075A>G) c.2178A>G (p.Thr726=) c.*661A>G (n.*661A>G) c.*2185A>G (n.*2185A>G) c.1935A>G (p.Thr645=) c.11A>G c.1402-10298A>G (n.1402-10298A>G) c.2271A>G (p.Thr757=) c.2451A>G (p.Thr817=) c.2118A>G (p.Thr706=) | |
7 | g.117592528A>T | CA457449865 | CFTR | c.2361A>T (p.Thr787=) c.*2075A>T (n.*2075A>T) c.2178A>T (p.Thr726=) c.*661A>T (n.*661A>T) c.*2185A>T (n.*2185A>T) c.1935A>T (p.Thr645=) c.11A>T c.1402-10298A>T (n.1402-10298A>T) c.2271A>T (p.Thr757=) c.2451A>T (p.Thr817=) c.2118A>T (p.Thr706=) | |
7 | g.117592529A>C | CA368981056 | CFTR | c.2362A>C (p.Thr788Pro) c.*2076A>C (n.*2076A>C) c.2179A>C (p.Thr727Pro) c.*662A>C (n.*662A>C) c.*2186A>C (n.*2186A>C) c.1936A>C (p.Thr646Pro) c.12A>C c.1402-10297A>C (n.1402-10297A>C) c.2272A>C (p.Thr758Pro) c.2452A>C (p.Thr818Pro) c.2119A>C (p.Thr707Pro) | |
7 | g.117592529A>G | CA368981057 | CFTR | c.2362A>G (p.Thr788Ala) c.*2076A>G (n.*2076A>G) c.2179A>G (p.Thr727Ala) c.*662A>G (n.*662A>G) c.*2186A>G (n.*2186A>G) c.1936A>G (p.Thr646Ala) c.12A>G c.1402-10297A>G (n.1402-10297A>G) c.2272A>G (p.Thr758Ala) c.2452A>G (p.Thr818Ala) c.2119A>G (p.Thr707Ala) | gnomAD v4 |
7 | g.117592529A>T | CA368981058 | CFTR | c.2362A>T (p.Thr788Ser) c.*2076A>T (n.*2076A>T) c.2179A>T (p.Thr727Ser) c.*662A>T (n.*662A>T) c.*2186A>T (n.*2186A>T) c.1936A>T (p.Thr646Ser) c.12A>T c.1402-10297A>T (n.1402-10297A>T) c.2272A>T (p.Thr758Ser) c.2452A>T (p.Thr818Ser) c.2119A>T (p.Thr707Ser) | |
7 | g.117592530C>A | CA368981061 | CFTR | c.2363C>A (p.Thr788Lys) c.*2077C>A (n.*2077C>A) c.2180C>A (p.Thr727Lys) c.*663C>A (n.*663C>A) c.*2187C>A (n.*2187C>A) c.1937C>A (p.Thr646Lys) c.13C>A c.1402-10296C>A (n.1402-10296C>A) c.2273C>A (p.Thr758Lys) c.2453C>A (p.Thr818Lys) c.2120C>A (p.Thr707Lys) | dbSNP gnomAD v4 COSMIC |
7 | g.117592530C= | CA1737395332 | CFTR | c.2363C= (p.Thr788=) c.*2077C= (n.*2077C=) c.2180C= (p.Thr727=) c.*663C= (n.*663C=) c.*2187C= (n.*2187C=) c.1937C= (p.Thr646=) c.13C= c.1402-10296C= (n.1402-10296C=) c.2273C= (p.Thr758=) c.2453C= (p.Thr818=) c.2120C= (p.Thr707=) | |
7 | g.117592530C>G | CA368981059 | CFTR | c.2363C>G (p.Thr788Arg) c.*2077C>G (n.*2077C>G) c.2180C>G (p.Thr727Arg) c.*663C>G (n.*663C>G) c.*2187C>G (n.*2187C>G) c.1937C>G (p.Thr646Arg) c.13C>G c.1402-10296C>G (n.1402-10296C>G) c.2273C>G (p.Thr758Arg) c.2453C>G (p.Thr818Arg) c.2120C>G (p.Thr707Arg) | |
7 | g.117592530C>T | CA368981060 | CFTR | c.2363C>T (p.Thr788Ile) c.*2077C>T (n.*2077C>T) c.2180C>T (p.Thr727Ile) c.*663C>T (n.*663C>T) c.*2187C>T (n.*2187C>T) c.1937C>T (p.Thr646Ile) c.13C>T c.1402-10296C>T (n.1402-10296C>T) c.2273C>T (p.Thr758Ile) c.2453C>T (p.Thr818Ile) c.2120C>T (p.Thr707Ile) | ClinVar |
7 | g.117592531A>C | CA457449871 | CFTR | c.2364A>C (p.Thr788=) c.*2078A>C (n.*2078A>C) c.2181A>C (p.Thr727=) c.*664A>C (n.*664A>C) c.*2188A>C (n.*2188A>C) c.1938A>C (p.Thr646=) c.14A>C c.1402-10295A>C (n.1402-10295A>C) c.2274A>C (p.Thr758=) c.2454A>C (p.Thr818=) c.2121A>C (p.Thr707=) | |
7 | g.117592531A>G | CA457449870 | CFTR | c.2364A>G (p.Thr788=) c.*2078A>G (n.*2078A>G) c.2181A>G (p.Thr727=) c.*664A>G (n.*664A>G) c.*2188A>G (n.*2188A>G) c.1938A>G (p.Thr646=) c.14A>G c.1402-10295A>G (n.1402-10295A>G) c.2274A>G (p.Thr758=) c.2454A>G (p.Thr818=) c.2121A>G (p.Thr707=) | gnomAD v4 |
7 | g.117592531A>T | CA457449869 | CFTR | c.2364A>T (p.Thr788=) c.*2078A>T (n.*2078A>T) c.2181A>T (p.Thr727=) c.*664A>T (n.*664A>T) c.*2188A>T (n.*2188A>T) c.1938A>T (p.Thr646=) c.14A>T c.1402-10295A>T (n.1402-10295A>T) c.2274A>T (p.Thr758=) c.2454A>T (p.Thr818=) c.2121A>T (p.Thr707=) | |
7 | g.117592532G>A | CA368981062 | CFTR | c.2365G>A (p.Ala789Thr) c.*2079G>A (n.*2079G>A) c.2182G>A (p.Ala728Thr) c.*665G>A (n.*665G>A) c.*2189G>A (n.*2189G>A) c.1939G>A (p.Ala647Thr) c.15G>A c.1402-10294G>A (n.1402-10294G>A) c.2275G>A (p.Ala759Thr) c.2455G>A (p.Ala819Thr) c.2122G>A (p.Ala708Thr) | dbSNP |
7 | g.117592532G>C | CA368981063 | CFTR | c.2365G>C (p.Ala789Pro) c.*2079G>C (n.*2079G>C) c.2182G>C (p.Ala728Pro) c.*665G>C (n.*665G>C) c.*2189G>C (n.*2189G>C) c.1939G>C (p.Ala647Pro) c.15G>C c.1402-10294G>C (n.1402-10294G>C) c.2275G>C (p.Ala759Pro) c.2455G>C (p.Ala819Pro) c.2122G>C (p.Ala708Pro) | |
7 | g.117592532G= | CA1737395334 | CFTR | c.2365G= (p.Ala789=) c.*2079G= (n.*2079G=) c.2182G= (p.Ala728=) c.*665G= (n.*665G=) c.*2189G= (n.*2189G=) c.1939G= (p.Ala647=) c.15G= c.1402-10294G= (n.1402-10294G=) c.2275G= (p.Ala759=) c.2455G= (p.Ala819=) c.2122G= (p.Ala708=) | |
7 | g.117592532G>T | CA368981064 | CFTR | c.2365G>T (p.Ala789Ser) c.*2079G>T (n.*2079G>T) c.2182G>T (p.Ala728Ser) c.*665G>T (n.*665G>T) c.*2189G>T (n.*2189G>T) c.1939G>T (p.Ala647Ser) c.15G>T c.1402-10294G>T (n.1402-10294G>T) c.2275G>T (p.Ala759Ser) c.2455G>T (p.Ala819Ser) c.2122G>T (p.Ala708Ser) | COSMIC |
7 | g.117592533C>A | CA368981065 | CFTR | c.2366C>A (p.Ala789Glu) c.*2080C>A (n.*2080C>A) c.2183C>A (p.Ala728Glu) c.*666C>A (n.*666C>A) c.*2190C>A (n.*2190C>A) c.1940C>A (p.Ala647Glu) c.16C>A c.1402-10293C>A (n.1402-10293C>A) c.2276C>A (p.Ala759Glu) c.2456C>A (p.Ala819Glu) c.2123C>A (p.Ala708Glu) | gnomAD v4 |
7 | g.117592533C>G | CA368981066 | CFTR | c.2366C>G (p.Ala789Gly) c.*2080C>G (n.*2080C>G) c.2183C>G (p.Ala728Gly) c.*666C>G (n.*666C>G) c.*2190C>G (n.*2190C>G) c.1940C>G (p.Ala647Gly) c.16C>G c.1402-10293C>G (n.1402-10293C>G) c.2276C>G (p.Ala759Gly) c.2456C>G (p.Ala819Gly) c.2123C>G (p.Ala708Gly) | |
7 | g.117592533C>T | CA368981067 | CFTR | c.2366C>T (p.Ala789Val) c.*2080C>T (n.*2080C>T) c.2183C>T (p.Ala728Val) c.*666C>T (n.*666C>T) c.*2190C>T (n.*2190C>T) c.1940C>T (p.Ala647Val) c.16C>T c.1402-10293C>T (n.1402-10293C>T) c.2276C>T (p.Ala759Val) c.2456C>T (p.Ala819Val) c.2123C>T (p.Ala708Val) | gnomAD v4 |
7 | g.117592534A>C | CA457449880 | CFTR | c.2367A>C (p.Ala789=) c.*2081A>C (n.*2081A>C) c.2184A>C (p.Ala728=) c.*667A>C (n.*667A>C) c.*2191A>C (n.*2191A>C) c.1941A>C (p.Ala647=) c.17A>C c.1402-10292A>C (n.1402-10292A>C) c.2277A>C (p.Ala759=) c.2457A>C (p.Ala819=) c.2124A>C (p.Ala708=) | |
7 | g.117592534A>G | CA457449881 | CFTR | c.2367A>G (p.Ala789=) c.*2081A>G (n.*2081A>G) c.2184A>G (p.Ala728=) c.*667A>G (n.*667A>G) c.*2191A>G (n.*2191A>G) c.1941A>G (p.Ala647=) c.17A>G c.1402-10292A>G (n.1402-10292A>G) c.2277A>G (p.Ala759=) c.2457A>G (p.Ala819=) c.2124A>G (p.Ala708=) | |
7 | g.117592534A>T | CA457449882 | CFTR | c.2367A>T (p.Ala789=) c.*2081A>T (n.*2081A>T) c.2184A>T (p.Ala728=) c.*667A>T (n.*667A>T) c.*2191A>T (n.*2191A>T) c.1941A>T (p.Ala647=) c.17A>T c.1402-10292A>T (n.1402-10292A>T) c.2277A>T (p.Ala759=) c.2457A>T (p.Ala819=) c.2124A>T (p.Ala708=) | |
7 | g.117592535T>A | CA368981068 | CFTR | c.2368T>A (p.Ser790Thr) c.*2082T>A (n.*2082T>A) c.2185T>A (p.Ser729Thr) c.*668T>A (n.*668T>A) c.*2192T>A (n.*2192T>A) c.1942T>A (p.Ser648Thr) c.18T>A c.1402-10291T>A (n.1402-10291T>A) c.2278T>A (p.Ser760Thr) c.2458T>A (p.Ser820Thr) c.2125T>A (p.Ser709Thr) | |
7 | g.117592535T>C | CA368981069 | CFTR | c.2368T>C (p.Ser790Pro) c.*2082T>C (n.*2082T>C) c.2185T>C (p.Ser729Pro) c.*668T>C (n.*668T>C) c.*2192T>C (n.*2192T>C) c.1942T>C (p.Ser648Pro) c.18T>C c.1402-10291T>C (n.1402-10291T>C) c.2278T>C (p.Ser760Pro) c.2458T>C (p.Ser820Pro) c.2125T>C (p.Ser709Pro) | |
7 | g.117592535T>G | CA368981070 | CFTR | c.2368T>G (p.Ser790Ala) c.*2082T>G (n.*2082T>G) c.2185T>G (p.Ser729Ala) c.*668T>G (n.*668T>G) c.*2192T>G (n.*2192T>G) c.1942T>G (p.Ser648Ala) c.18T>G c.1402-10291T>G (n.1402-10291T>G) c.2278T>G (p.Ser760Ala) c.2458T>G (p.Ser820Ala) c.2125T>G (p.Ser709Ala) | |
7 | g.117592536C>A | CA368981071 | CFTR | c.2369C>A (p.Ser790Tyr) c.*2083C>A (n.*2083C>A) c.2186C>A (p.Ser729Tyr) c.*669C>A (n.*669C>A) c.*2193C>A (n.*2193C>A) c.1943C>A (p.Ser648Tyr) c.19C>A c.1402-10290C>A (n.1402-10290C>A) c.2279C>A (p.Ser760Tyr) c.2459C>A (p.Ser820Tyr) c.2126C>A (p.Ser709Tyr) | |
7 | g.117592536C>G | CA368981072 | CFTR | c.2369C>G (p.Ser790Cys) c.*2083C>G (n.*2083C>G) c.2186C>G (p.Ser729Cys) c.*669C>G (n.*669C>G) c.*2193C>G (n.*2193C>G) c.1943C>G (p.Ser648Cys) c.19C>G c.1402-10290C>G (n.1402-10290C>G) c.2279C>G (p.Ser760Cys) c.2459C>G (p.Ser820Cys) c.2126C>G (p.Ser709Cys) | |
7 | g.117592536C>T | CA368981073 | CFTR | c.2369C>T (p.Ser790Phe) c.*2083C>T (n.*2083C>T) c.2186C>T (p.Ser729Phe) c.*669C>T (n.*669C>T) c.*2193C>T (n.*2193C>T) c.1943C>T (p.Ser648Phe) c.19C>T c.1402-10290C>T (n.1402-10290C>T) c.2279C>T (p.Ser760Phe) c.2459C>T (p.Ser820Phe) c.2126C>T (p.Ser709Phe) | gnomAD v4 |
7 | g.117592537C>A | CA457449888 | CFTR | c.2370C>A (p.Ser790=) c.*2084C>A (n.*2084C>A) c.2187C>A (p.Ser729=) c.*670C>A (n.*670C>A) c.*2194C>A (n.*2194C>A) c.1944C>A (p.Ser648=) c.20C>A c.1402-10289C>A (n.1402-10289C>A) c.2280C>A (p.Ser760=) c.2460C>A (p.Ser820=) c.2127C>A (p.Ser709=) | |
7 | g.117592537C>G | CA457449889 | CFTR | c.2370C>G (p.Ser790=) c.*2084C>G (n.*2084C>G) c.2187C>G (p.Ser729=) c.*670C>G (n.*670C>G) c.*2194C>G (n.*2194C>G) c.1944C>G (p.Ser648=) c.20C>G c.1402-10289C>G (n.1402-10289C>G) c.2280C>G (p.Ser760=) c.2460C>G (p.Ser820=) c.2127C>G (p.Ser709=) | |
7 | g.117592537C>T | CA457449892 | CFTR | c.2370C>T (p.Ser790=) c.*2084C>T (n.*2084C>T) c.2187C>T (p.Ser729=) c.*670C>T (n.*670C>T) c.*2194C>T (n.*2194C>T) c.1944C>T (p.Ser648=) c.20C>T c.1402-10289C>T (n.1402-10289C>T) c.2280C>T (p.Ser760=) c.2460C>T (p.Ser820=) c.2127C>T (p.Ser709=) | |
7 | g.117592537_117592543delinsCACACGA | CA1737395339 | CFTR | c.2370_2376delinsCACACGA (p.Ser790=) c.*2084_*2090delinsCACACGA (n.*2084_*2090delinsCACACGA) c.2187_2193delinsCACACGA (p.Ser729=) c.*670_*676delinsCACACGA (n.*670_*676delinsCACACGA) c.*2194_*2200delinsCACACGA (n.*2194_*2200delinsCACACGA) c.1944_1950delinsCACACGA (p.Ser648=) c.20_26delinsCACACGA c.1402-10289_1402-10283delinsCACACGA (n.1402-10289_1402-10283delinsCACACGA) c.2280_2286delinsCACACGA (p.Ser760=) c.2460_2466delinsCACACGA (p.Ser820=) c.2127_2133delinsCACACGA (p.Ser709=) | |
7 | g.117592538A>C | CA368981074 | CFTR | c.2371A>C (p.Thr791Pro) c.*2085A>C (n.*2085A>C) c.2188A>C (p.Thr730Pro) c.*671A>C (n.*671A>C) c.*2195A>C (n.*2195A>C) c.1945A>C (p.Thr649Pro) c.21A>C c.1402-10288A>C (n.1402-10288A>C) c.2281A>C (p.Thr761Pro) c.2461A>C (p.Thr821Pro) c.2128A>C (p.Thr710Pro) | |
7 | g.117592538A>G | CA368981076 | CFTR | c.2371A>G (p.Thr791Ala) c.*2085A>G (n.*2085A>G) c.2188A>G (p.Thr730Ala) c.*671A>G (n.*671A>G) c.*2195A>G (n.*2195A>G) c.1945A>G (p.Thr649Ala) c.21A>G c.1402-10288A>G (n.1402-10288A>G) c.2281A>G (p.Thr761Ala) c.2461A>G (p.Thr821Ala) c.2128A>G (p.Thr710Ala) | |
7 | g.117592538A>T | CA368981075 | CFTR | c.2371A>T (p.Thr791Ser) c.*2085A>T (n.*2085A>T) c.2188A>T (p.Thr730Ser) c.*671A>T (n.*671A>T) c.*2195A>T (n.*2195A>T) c.1945A>T (p.Thr649Ser) c.21A>T c.1402-10288A>T (n.1402-10288A>T) c.2281A>T (p.Thr761Ser) c.2461A>T (p.Thr821Ser) c.2128A>T (p.Thr710Ser) | |
7 | g.117592539_117592544del | CA913190195 | CFTR | c.2372_2377del (p.Thr791_Arg792del) c.*2086_*2091del (n.*2086_*2091del) c.2189_2194del (p.Thr730_Arg731del) c.*672_*677del (n.*672_*677del) c.*2196_*2201del (n.*2196_*2201del) c.1946_1951del (p.Thr649_Arg650del) c.22_27del c.1402-10287_1402-10282del (n.1402-10287_1402-10282del) c.2282_2287del (p.Thr761_Arg762del) c.2462_2467del (p.Thr821_Arg822del) c.2129_2134del (p.Thr710_Arg711del) | ClinVar dbSNP |
7 | g.117592539C>A | CA368981077 | CFTR | c.2372C>A (p.Thr791Lys) c.*2086C>A (n.*2086C>A) c.2189C>A (p.Thr730Lys) c.*672C>A (n.*672C>A) c.*2196C>A (n.*2196C>A) c.1946C>A (p.Thr649Lys) c.22C>A c.1402-10287C>A (n.1402-10287C>A) c.2282C>A (p.Thr761Lys) c.2462C>A (p.Thr821Lys) c.2129C>A (p.Thr710Lys) | |
7 | g.117592539C= | CA1737395348 | CFTR | c.2372C= (p.Thr791=) c.*2086C= (n.*2086C=) c.2189C= (p.Thr730=) c.*672C= (n.*672C=) c.*2196C= (n.*2196C=) c.1946C= (p.Thr649=) c.22C= c.1402-10287C= (n.1402-10287C=) c.2282C= (p.Thr761=) c.2462C= (p.Thr821=) c.2129C= (p.Thr710=) | |
7 | g.117592539C>G | CA368981078 | CFTR | c.2372C>G (p.Thr791Arg) c.*2086C>G (n.*2086C>G) c.2189C>G (p.Thr730Arg) c.*672C>G (n.*672C>G) c.*2196C>G (n.*2196C>G) c.1946C>G (p.Thr649Arg) c.22C>G c.1402-10287C>G (n.1402-10287C>G) c.2282C>G (p.Thr761Arg) c.2462C>G (p.Thr821Arg) c.2129C>G (p.Thr710Arg) | |
7 | g.117592539C>T | CA368981079 | CFTR | c.2372C>T (p.Thr791Ile) c.*2086C>T (n.*2086C>T) c.2189C>T (p.Thr730Ile) c.*672C>T (n.*672C>T) c.*2196C>T (n.*2196C>T) c.1946C>T (p.Thr649Ile) c.22C>T c.1402-10287C>T (n.1402-10287C>T) c.2282C>T (p.Thr761Ile) c.2462C>T (p.Thr821Ile) c.2129C>T (p.Thr710Ile) | dbSNP |
7 | g.117592539_117592540delinsCA | CA1737395346 | CFTR | c.2372_2373delinsCA (p.Thr791=) c.*2086_*2087delinsCA (n.*2086_*2087delinsCA) c.2189_2190delinsCA (p.Thr730=) c.*672_*673delinsCA (n.*672_*673delinsCA) c.*2196_*2197delinsCA (n.*2196_*2197delinsCA) c.1946_1947delinsCA (p.Thr649=) c.22_23delinsCA c.1402-10287_1402-10286delinsCA (n.1402-10287_1402-10286delinsCA) c.2282_2283delinsCA (p.Thr761=) c.2462_2463delinsCA (p.Thr821=) c.2129_2130delinsCA (p.Thr710=) | |
7 | g.117592540del | CA915945427 | CFTR | c.2373del (p.Arg792GlufsTer11) c.*2087del (n.*2087del) c.2190del (p.Arg731GlufsTer11) c.*673del (n.*673del) c.*2197del (n.*2197del) c.1947del (p.Arg650GlufsTer11) c.23del c.1402-10286del (n.1402-10286del) c.2283del (p.Arg762GlufsTer11) c.2463del (p.Arg822GlufsTer11) c.2130del (p.Arg711GlufsTer11) | ClinVar dbSNP |
7 | g.117592540A= | CA1737395358 | CFTR | c.2373A= (p.Thr791=) c.*2087A= (n.*2087A=) c.2190A= (p.Thr730=) c.*673A= (n.*673A=) c.*2197A= (n.*2197A=) c.1947A= (p.Thr649=) c.23A= c.1402-10286A= (n.1402-10286A=) c.2283A= (p.Thr761=) c.2463A= (p.Thr821=) c.2130A= (p.Thr710=) | |
7 | g.117592540A>C | CA457449909 | CFTR | c.2373A>C (p.Thr791=) c.*2087A>C (n.*2087A>C) c.2190A>C (p.Thr730=) c.*673A>C (n.*673A>C) c.*2197A>C (n.*2197A>C) c.1947A>C (p.Thr649=) c.23A>C c.1402-10286A>C (n.1402-10286A>C) c.2283A>C (p.Thr761=) c.2463A>C (p.Thr821=) c.2130A>C (p.Thr710=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.117592540A>G | CA164948251 | CFTR | c.2373A>G (p.Thr791=) c.*2087A>G (n.*2087A>G) c.2190A>G (p.Thr730=) c.*673A>G (n.*673A>G) c.*2197A>G (n.*2197A>G) c.1947A>G (p.Thr649=) c.23A>G c.1402-10286A>G (n.1402-10286A>G) c.2283A>G (p.Thr761=) c.2463A>G (p.Thr821=) c.2130A>G (p.Thr710=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
7 | g.117592540A>T | CA457449911 | CFTR | c.2373A>T (p.Thr791=) c.*2087A>T (n.*2087A>T) c.2190A>T (p.Thr730=) c.*673A>T (n.*673A>T) c.*2197A>T (n.*2197A>T) c.1947A>T (p.Thr649=) c.23A>T c.1402-10286A>T (n.1402-10286A>T) c.2283A>T (p.Thr761=) c.2463A>T (p.Thr821=) c.2130A>T (p.Thr710=) | |
7 | g.117592540_117592544delinsCC | CA2580614249 | CFTR | c.2373_2377delinsCC (p.Arg792_Lys793delinsGln) c.*2087_*2091delinsCC (n.*2087_*2091delinsCC) c.2190_2194delinsCC (p.Arg731_Lys732delinsGln) c.*673_*677delinsCC (n.*673_*677delinsCC) c.*2197_*2201delinsCC (n.*2197_*2201delinsCC) c.1947_1951delinsCC (p.Arg650_Lys651delinsGln) c.23_27delinsCC c.1402-10286_1402-10282delinsCC (n.1402-10286_1402-10282delinsCC) c.2283_2287delinsCC (p.Arg762_Lys763delinsGln) c.2463_2467delinsCC (p.Arg822_Lys823delinsGln) c.2130_2134delinsCC (p.Arg711_Lys712delinsGln) | ClinVar |
7 | g.117592541C>A | CA457449914 | CFTR | c.2374C>A (p.Arg792=) c.*2088C>A (n.*2088C>A) c.2191C>A (p.Arg731=) c.*674C>A (n.*674C>A) c.*2198C>A (n.*2198C>A) c.1948C>A (p.Arg650=) c.24C>A c.1402-10285C>A (n.1402-10285C>A) c.2284C>A (p.Arg762=) c.2464C>A (p.Arg822=) c.2131C>A (p.Arg711=) | ClinVar |
7 | g.117592541C= | CA1737395455 | CFTR | c.2374C= (p.Arg792=) c.*2088C= (n.*2088C=) c.2191C= (p.Arg731=) c.*674C= (n.*674C=) c.*2198C= (n.*2198C=) c.1948C= (p.Arg650=) c.24C= c.1402-10285C= (n.1402-10285C=) c.2284C= (p.Arg762=) c.2464C= (p.Arg822=) c.2131C= (p.Arg711=) | |
7 | g.117592541C>G | CA326806 | CFTR | c.2374C>G (p.Arg792Gly) c.*2088C>G (n.*2088C>G) c.2191C>G (p.Arg731Gly) c.*674C>G (n.*674C>G) c.*2198C>G (n.*2198C>G) c.1948C>G (p.Arg650Gly) c.24C>G c.1402-10285C>G (n.1402-10285C>G) c.2284C>G (p.Arg762Gly) c.2464C>G (p.Arg822Gly) c.2131C>G (p.Arg711Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117592541C>T | CA326807 | CFTR | c.2374C>T (p.Arg792Ter) c.*2088C>T (n.*2088C>T) c.2191C>T (p.Arg731Ter) c.*674C>T (n.*674C>T) c.*2198C>T (n.*2198C>T) c.1948C>T (p.Arg650Ter) c.24C>T c.1402-10285C>T (n.1402-10285C>T) c.2284C>T (p.Arg762Ter) c.2464C>T (p.Arg822Ter) c.2131C>T (p.Arg711Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117592542G>A | CA4451178 | CFTR | c.2375G>A (p.Arg792Gln) c.*2089G>A (n.*2089G>A) c.2192G>A (p.Arg731Gln) c.*675G>A (n.*675G>A) c.*2199G>A (n.*2199G>A) c.1949G>A (p.Arg650Gln) c.25G>A c.1402-10284G>A (n.1402-10284G>A) c.2285G>A (p.Arg762Gln) c.2465G>A (p.Arg822Gln) c.2132G>A (p.Arg711Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117592542G>C | CA368981080 | CFTR | c.2375G>C (p.Arg792Pro) c.*2089G>C (n.*2089G>C) c.2192G>C (p.Arg731Pro) c.*675G>C (n.*675G>C) c.*2199G>C (n.*2199G>C) c.1949G>C (p.Arg650Pro) c.25G>C c.1402-10284G>C (n.1402-10284G>C) c.2285G>C (p.Arg762Pro) c.2465G>C (p.Arg822Pro) c.2132G>C (p.Arg711Pro) | |
7 | g.117592542G= | CA1737395468 | CFTR | c.2375G= (p.Arg792=) c.*2089G= (n.*2089G=) c.2192G= (p.Arg731=) c.*675G= (n.*675G=) c.*2199G= (n.*2199G=) c.1949G= (p.Arg650=) c.25G= c.1402-10284G= (n.1402-10284G=) c.2285G= (p.Arg762=) c.2465G= (p.Arg822=) c.2132G= (p.Arg711=) | |
7 | g.117592542G>T | CA368981081 | CFTR | c.2375G>T (p.Arg792Leu) c.*2089G>T (n.*2089G>T) c.2192G>T (p.Arg731Leu) c.*675G>T (n.*675G>T) c.*2199G>T (n.*2199G>T) c.1949G>T (p.Arg650Leu) c.25G>T c.1402-10284G>T (n.1402-10284G>T) c.2285G>T (p.Arg762Leu) c.2465G>T (p.Arg822Leu) c.2132G>T (p.Arg711Leu) | |
7 | g.117592542_117592544del | CA577680773 | CFTR | c.2375_2377del (p.Arg792_Lys793delinsGln) c.*2089_*2091del (n.*2089_*2091del) c.2192_2194del (p.Arg731_Lys732delinsGln) c.*675_*677del (n.*675_*677del) c.*2199_*2201del (n.*2199_*2201del) c.1949_1951del (p.Arg650_Lys651delinsGln) c.25_27del c.1402-10284_1402-10282del (n.1402-10284_1402-10282del) c.2285_2287del (p.Arg762_Lys763delinsGln) c.2465_2467del (p.Arg822_Lys823delinsGln) c.2132_2134del (p.Arg711_Lys712delinsGln) | ClinVar gnomAD v2 gnomAD v4 |
7 | g.117592543A>C | CA457449919 | CFTR | c.2376A>C (p.Arg792=) c.*2090A>C (n.*2090A>C) c.2193A>C (p.Arg731=) c.*676A>C (n.*676A>C) c.*2200A>C (n.*2200A>C) c.1950A>C (p.Arg650=) c.26A>C c.1402-10283A>C (n.1402-10283A>C) c.2286A>C (p.Arg762=) c.2466A>C (p.Arg822=) c.2133A>C (p.Arg711=) | |
7 | g.117592543A>G | CA457449920 | CFTR | c.2376A>G (p.Arg792=) c.*2090A>G (n.*2090A>G) c.2193A>G (p.Arg731=) c.*676A>G (n.*676A>G) c.*2200A>G (n.*2200A>G) c.1950A>G (p.Arg650=) c.26A>G c.1402-10283A>G (n.1402-10283A>G) c.2286A>G (p.Arg762=) c.2466A>G (p.Arg822=) c.2133A>G (p.Arg711=) | |
7 | g.117592543A>T | CA457449922 | CFTR | c.2376A>T (p.Arg792=) c.*2090A>T (n.*2090A>T) c.2193A>T (p.Arg731=) c.*676A>T (n.*676A>T) c.*2200A>T (n.*2200A>T) c.1950A>T (p.Arg650=) c.26A>T c.1402-10283A>T (n.1402-10283A>T) c.2286A>T (p.Arg762=) c.2466A>T (p.Arg822=) c.2133A>T (p.Arg711=) | |
7 | g.117592546del | CA2580076555 | CFTR | c.2379del (p.Val794CysfsTer9) c.*2093del (n.*2093del) c.2196del (p.Val733CysfsTer9) c.*679del (n.*679del) c.*2203del (n.*2203del) c.1953del (p.Val652CysfsTer9) c.29del c.1402-10280del (n.1402-10280del) c.2289del (p.Val764CysfsTer9) c.2469del (p.Val824CysfsTer9) c.2136del (p.Val713CysfsTer9) | ClinVar |
7 | g.117592544A>C | CA368981082 | CFTR | c.2377A>C (p.Lys793Gln) c.*2091A>C (n.*2091A>C) c.2194A>C (p.Lys732Gln) c.*677A>C (n.*677A>C) c.*2201A>C (n.*2201A>C) c.1951A>C (p.Lys651Gln) c.27A>C c.1402-10282A>C (n.1402-10282A>C) c.2287A>C (p.Lys763Gln) c.2467A>C (p.Lys823Gln) c.2134A>C (p.Lys712Gln) | |
7 | g.117592544A>G | CA368981083 | CFTR | c.2377A>G (p.Lys793Glu) c.*2091A>G (n.*2091A>G) c.2194A>G (p.Lys732Glu) c.*677A>G (n.*677A>G) c.*2201A>G (n.*2201A>G) c.1951A>G (p.Lys651Glu) c.27A>G c.1402-10282A>G (n.1402-10282A>G) c.2287A>G (p.Lys763Glu) c.2467A>G (p.Lys823Glu) c.2134A>G (p.Lys712Glu) | |
7 | g.117592544A>T | CA368981084 | CFTR | c.2377A>T (p.Lys793Ter) c.*2091A>T (n.*2091A>T) c.2194A>T (p.Lys732Ter) c.*677A>T (n.*677A>T) c.*2201A>T (n.*2201A>T) c.1951A>T (p.Lys651Ter) c.27A>T c.1402-10282A>T (n.1402-10282A>T) c.2287A>T (p.Lys763Ter) c.2467A>T (p.Lys823Ter) c.2134A>T (p.Lys712Ter) | |
7 | g.117592545A>C | CA368981087 | CFTR | c.2378A>C (p.Lys793Thr) c.*2092A>C (n.*2092A>C) c.2195A>C (p.Lys732Thr) c.*678A>C (n.*678A>C) c.*2202A>C (n.*2202A>C) c.1952A>C (p.Lys651Thr) c.28A>C c.1402-10281A>C (n.1402-10281A>C) c.2288A>C (p.Lys763Thr) c.2468A>C (p.Lys823Thr) c.2135A>C (p.Lys712Thr) | |
7 | g.117592545A>G | CA368981085 | CFTR | c.2378A>G (p.Lys793Arg) c.*2092A>G (n.*2092A>G) c.2195A>G (p.Lys732Arg) c.*678A>G (n.*678A>G) c.*2202A>G (n.*2202A>G) c.1952A>G (p.Lys651Arg) c.28A>G c.1402-10281A>G (n.1402-10281A>G) c.2288A>G (p.Lys763Arg) c.2468A>G (p.Lys823Arg) c.2135A>G (p.Lys712Arg) | gnomAD v4 |
7 | g.117592545A>T | CA368981086 | CFTR | c.2378A>T (p.Lys793Ile) c.*2092A>T (n.*2092A>T) c.2195A>T (p.Lys732Ile) c.*678A>T (n.*678A>T) c.*2202A>T (n.*2202A>T) c.1952A>T (p.Lys651Ile) c.28A>T c.1402-10281A>T (n.1402-10281A>T) c.2288A>T (p.Lys763Ile) c.2468A>T (p.Lys823Ile) c.2135A>T (p.Lys712Ile) | |
7 | g.117592546A>C | CA368981088 | CFTR | c.2379A>C (p.Lys793Asn) c.*2093A>C (n.*2093A>C) c.2196A>C (p.Lys732Asn) c.*679A>C (n.*679A>C) c.*2203A>C (n.*2203A>C) c.1953A>C (p.Lys651Asn) c.29A>C c.1402-10280A>C (n.1402-10280A>C) c.2289A>C (p.Lys763Asn) c.2469A>C (p.Lys823Asn) c.2136A>C (p.Lys712Asn) | |
7 | g.117592546A>G | CA457449926 | CFTR | c.2379A>G (p.Lys793=) c.*2093A>G (n.*2093A>G) c.2196A>G (p.Lys732=) c.*679A>G (n.*679A>G) c.*2203A>G (n.*2203A>G) c.1953A>G (p.Lys651=) c.29A>G c.1402-10280A>G (n.1402-10280A>G) c.2289A>G (p.Lys763=) c.2469A>G (p.Lys823=) c.2136A>G (p.Lys712=) | |
7 | g.117592546A>T | CA368981089 | CFTR | c.2379A>T (p.Lys793Asn) c.*2093A>T (n.*2093A>T) c.2196A>T (p.Lys732Asn) c.*679A>T (n.*679A>T) c.*2203A>T (n.*2203A>T) c.1953A>T (p.Lys651Asn) c.29A>T c.1402-10280A>T (n.1402-10280A>T) c.2289A>T (p.Lys763Asn) c.2469A>T (p.Lys823Asn) c.2136A>T (p.Lys712Asn) | ClinVar |
7 | g.117592547G>A | CA368981090 | CFTR | c.2380G>A (p.Val794Met) c.*2094G>A (n.*2094G>A) c.2197G>A (p.Val733Met) c.*680G>A (n.*680G>A) c.*2204G>A (n.*2204G>A) c.1954G>A (p.Val652Met) c.30G>A c.1402-10279G>A (n.1402-10279G>A) c.2290G>A (p.Val764Met) c.2470G>A (p.Val824Met) c.2137G>A (p.Val713Met) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.117592547G>C | CA368981091 | CFTR | c.2380G>C (p.Val794Leu) c.*2094G>C (n.*2094G>C) c.2197G>C (p.Val733Leu) c.*680G>C (n.*680G>C) c.*2204G>C (n.*2204G>C) c.1954G>C (p.Val652Leu) c.30G>C c.1402-10279G>C (n.1402-10279G>C) c.2290G>C (p.Val764Leu) c.2470G>C (p.Val824Leu) c.2137G>C (p.Val713Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.117592547G= | CA1737395470 | CFTR | c.2380G= (p.Val794=) c.*2094G= (n.*2094G=) c.2197G= (p.Val733=) c.*680G= (n.*680G=) c.*2204G= (n.*2204G=) c.1954G= (p.Val652=) c.30G= c.1402-10279G= (n.1402-10279G=) c.2290G= (p.Val764=) c.2470G= (p.Val824=) c.2137G= (p.Val713=) | |
7 | g.117592547G>T | CA368981092 | CFTR | c.2380G>T (p.Val794Leu) c.*2094G>T (n.*2094G>T) c.2197G>T (p.Val733Leu) c.*680G>T (n.*680G>T) c.*2204G>T (n.*2204G>T) c.1954G>T (p.Val652Leu) c.30G>T c.1402-10279G>T (n.1402-10279G>T) c.2290G>T (p.Val764Leu) c.2470G>T (p.Val824Leu) c.2137G>T (p.Val713Leu) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.117592549_117592550del | CA2580617857 | CFTR | c.2382_2383del (p.Ser795ThrfsTer9) c.*2096_*2097del (n.*2096_*2097del) c.2199_2200del (p.Ser734ThrfsTer9) c.*682_*683del (n.*682_*683del) c.*2206_*2207del (n.*2206_*2207del) c.1956_1957del (p.Ser653ThrfsTer9) c.32_33del c.1402-10277_1402-10276del (n.1402-10277_1402-10276del) c.2292_2293del (p.Ser765ThrfsTer9) c.2472_2473del (p.Ser825ThrfsTer9) c.2139_2140del (p.Ser714ThrfsTer9) | ClinVar |
7 | g.117592548_117592617del | CA2695199624 | CFTR | c.2381_2450del (p.Val794AlafsTer4) c.*2095_*2164del (n.*2095_*2164del) c.2198_2267del (p.Val733AlafsTer4) c.*681_*750del (n.*681_*750del) c.*2205_*2274del (n.*2205_*2274del) c.1955_2024del (p.Val652AlafsTer4) c.31_100del c.1402-10278_1402-10209del (n.1402-10278_1402-10209del) c.2291_2360del (p.Val764AlafsTer4) c.2471_2540del (p.Val824AlafsTer4) c.2138_2207del (p.Val713AlafsTer4) | ClinVar |
7 | g.117592548T>A | CA368981093 | CFTR | c.2381T>A (p.Val794Glu) c.*2095T>A (n.*2095T>A) c.2198T>A (p.Val733Glu) c.*681T>A (n.*681T>A) c.*2205T>A (n.*2205T>A) c.1955T>A (p.Val652Glu) c.31T>A c.1402-10278T>A (n.1402-10278T>A) c.2291T>A (p.Val764Glu) c.2471T>A (p.Val824Glu) c.2138T>A (p.Val713Glu) | ClinVar |
7 | g.117592548T>C | CA368981094 | CFTR | c.2381T>C (p.Val794Ala) c.*2095T>C (n.*2095T>C) c.2198T>C (p.Val733Ala) c.*681T>C (n.*681T>C) c.*2205T>C (n.*2205T>C) c.1955T>C (p.Val652Ala) c.31T>C c.1402-10278T>C (n.1402-10278T>C) c.2291T>C (p.Val764Ala) c.2471T>C (p.Val824Ala) c.2138T>C (p.Val713Ala) | |
7 | g.117592548T>G | CA368981095 | CFTR | c.2381T>G (p.Val794Gly) c.*2095T>G (n.*2095T>G) c.2198T>G (p.Val733Gly) c.*681T>G (n.*681T>G) c.*2205T>G (n.*2205T>G) c.1955T>G (p.Val652Gly) c.31T>G c.1402-10278T>G (n.1402-10278T>G) c.2291T>G (p.Val764Gly) c.2471T>G (p.Val824Gly) c.2138T>G (p.Val713Gly) | |
7 | g.117592549G>A | CA457449937 | CFTR | c.2382G>A (p.Val794=) c.*2096G>A (n.*2096G>A) c.2199G>A (p.Val733=) c.*682G>A (n.*682G>A) c.*2206G>A (n.*2206G>A) c.1956G>A (p.Val652=) c.32G>A c.1402-10277G>A (n.1402-10277G>A) c.2292G>A (p.Val764=) c.2472G>A (p.Val824=) c.2139G>A (p.Val713=) | |
7 | g.117592549G>C | CA457449936 | CFTR | c.2382G>C (p.Val794=) c.*2096G>C (n.*2096G>C) c.2199G>C (p.Val733=) c.*682G>C (n.*682G>C) c.*2206G>C (n.*2206G>C) c.1956G>C (p.Val652=) c.32G>C c.1402-10277G>C (n.1402-10277G>C) c.2292G>C (p.Val764=) c.2472G>C (p.Val824=) c.2139G>C (p.Val713=) | |
7 | g.117592549G>T | CA457449935 | CFTR | c.2382G>T (p.Val794=) c.*2096G>T (n.*2096G>T) c.2199G>T (p.Val733=) c.*682G>T (n.*682G>T) c.*2206G>T (n.*2206G>T) c.1956G>T (p.Val652=) c.32G>T c.1402-10277G>T (n.1402-10277G>T) c.2292G>T (p.Val764=) c.2472G>T (p.Val824=) c.2139G>T (p.Val713=) | |
7 | g.117592550T>A | CA368981096 | CFTR | c.2383T>A (p.Ser795Thr) c.*2097T>A (n.*2097T>A) c.2200T>A (p.Ser734Thr) c.*683T>A (n.*683T>A) c.*2207T>A (n.*2207T>A) c.1957T>A (p.Ser653Thr) c.33T>A c.1402-10276T>A (n.1402-10276T>A) c.2293T>A (p.Ser765Thr) c.2473T>A (p.Ser825Thr) c.2140T>A (p.Ser714Thr) | |
7 | g.117592550T>C | CA368981097 | CFTR | c.2383T>C (p.Ser795Pro) c.*2097T>C (n.*2097T>C) c.2200T>C (p.Ser734Pro) c.*683T>C (n.*683T>C) c.*2207T>C (n.*2207T>C) c.1957T>C (p.Ser653Pro) c.33T>C c.1402-10276T>C (n.1402-10276T>C) c.2293T>C (p.Ser765Pro) c.2473T>C (p.Ser825Pro) c.2140T>C (p.Ser714Pro) | |
7 | g.117592550T>G | CA368981098 | CFTR | c.2383T>G (p.Ser795Ala) c.*2097T>G (n.*2097T>G) c.2200T>G (p.Ser734Ala) c.*683T>G (n.*683T>G) c.*2207T>G (n.*2207T>G) c.1957T>G (p.Ser653Ala) c.33T>G c.1402-10276T>G (n.1402-10276T>G) c.2293T>G (p.Ser765Ala) c.2473T>G (p.Ser825Ala) c.2140T>G (p.Ser714Ala) | |
7 | g.117592550_117592551delinsTC | CA1737395474 | CFTR | c.2383_2384delinsTC (p.Ser795=) c.*2097_*2098delinsTC (n.*2097_*2098delinsTC) c.2200_2201delinsTC (p.Ser734=) c.*683_*684delinsTC (n.*683_*684delinsTC) c.*2207_*2208delinsTC (n.*2207_*2208delinsTC) c.1957_1958delinsTC (p.Ser653=) c.33_34delinsTC c.1402-10276_1402-10275delinsTC (n.1402-10276_1402-10275delinsTC) c.2293_2294delinsTC (p.Ser765=) c.2473_2474delinsTC (p.Ser825=) c.2140_2141delinsTC (p.Ser714=) | |
7 | g.117592551del | CA164948262 | CFTR | c.2384del (p.Ser795TyrfsTer8) c.*2098del (n.*2098del) c.2201del (p.Ser734TyrfsTer8) c.*684del (n.*684del) c.*2208del (n.*2208del) c.1958del (p.Ser653TyrfsTer8) c.34del c.1402-10275del (n.1402-10275del) c.2294del (p.Ser765TyrfsTer8) c.2474del (p.Ser825TyrfsTer8) c.2141del (p.Ser714TyrfsTer8) | dbSNP |
7 | g.117592551C>A | CA368981100 | CFTR | c.2384C>A (p.Ser795Ter) c.*2098C>A (n.*2098C>A) c.2201C>A (p.Ser734Ter) c.*684C>A (n.*684C>A) c.*2208C>A (n.*2208C>A) c.1958C>A (p.Ser653Ter) c.34C>A c.1402-10275C>A (n.1402-10275C>A) c.2294C>A (p.Ser765Ter) c.2474C>A (p.Ser825Ter) c.2141C>A (p.Ser714Ter) | gnomAD v4 |
7 | g.117592551C= | CA1737395477 | CFTR | c.2384C= (p.Ser795=) c.*2098C= (n.*2098C=) c.2201C= (p.Ser734=) c.*684C= (n.*684C=) c.*2208C= (n.*2208C=) c.1958C= (p.Ser653=) c.34C= c.1402-10275C= (n.1402-10275C=) c.2294C= (p.Ser765=) c.2474C= (p.Ser825=) c.2141C= (p.Ser714=) | |
7 | g.117592551C>G | CA368981101 | CFTR | c.2384C>G (p.Ser795Ter) c.*2098C>G (n.*2098C>G) c.2201C>G (p.Ser734Ter) c.*684C>G (n.*684C>G) c.*2208C>G (n.*2208C>G) c.1958C>G (p.Ser653Ter) c.34C>G c.1402-10275C>G (n.1402-10275C>G) c.2294C>G (p.Ser765Ter) c.2474C>G (p.Ser825Ter) c.2141C>G (p.Ser714Ter) | |
7 | g.117592551C>T | CA368981099 | CFTR | c.2384C>T (p.Ser795Leu) c.*2098C>T (n.*2098C>T) c.2201C>T (p.Ser734Leu) c.*684C>T (n.*684C>T) c.*2208C>T (n.*2208C>T) c.1958C>T (p.Ser653Leu) c.34C>T c.1402-10275C>T (n.1402-10275C>T) c.2294C>T (p.Ser765Leu) c.2474C>T (p.Ser825Leu) c.2141C>T (p.Ser714Leu) | dbSNP |
7 | g.117592552A>C | CA457449948 | CFTR | c.2385A>C (p.Ser795=) c.*2099A>C (n.*2099A>C) c.2202A>C (p.Ser734=) c.*685A>C (n.*685A>C) c.*2209A>C (n.*2209A>C) c.1959A>C (p.Ser653=) c.35A>C c.1402-10274A>C (n.1402-10274A>C) c.2295A>C (p.Ser765=) c.2475A>C (p.Ser825=) c.2142A>C (p.Ser714=) | |
7 | g.117592552A>G | CA457449949 | CFTR | c.2385A>G (p.Ser795=) c.*2099A>G (n.*2099A>G) c.2202A>G (p.Ser734=) c.*685A>G (n.*685A>G) c.*2209A>G (n.*2209A>G) c.1959A>G (p.Ser653=) c.35A>G c.1402-10274A>G (n.1402-10274A>G) c.2295A>G (p.Ser765=) c.2475A>G (p.Ser825=) c.2142A>G (p.Ser714=) | |
7 | g.117592552A>T | CA457449950 | CFTR | c.2385A>T (p.Ser795=) c.*2099A>T (n.*2099A>T) c.2202A>T (p.Ser734=) c.*685A>T (n.*685A>T) c.*2209A>T (n.*2209A>T) c.1959A>T (p.Ser653=) c.35A>T c.1402-10274A>T (n.1402-10274A>T) c.2295A>T (p.Ser765=) c.2475A>T (p.Ser825=) c.2142A>T (p.Ser714=) | |
7 | g.117592553C>A | CA368981103 | CFTR | c.2386C>A (p.Leu796Met) c.*2100C>A (n.*2100C>A) c.2203C>A (p.Leu735Met) c.*686C>A (n.*686C>A) c.*2210C>A (n.*2210C>A) c.1960C>A (p.Leu654Met) c.36C>A c.1402-10273C>A (n.1402-10273C>A) c.2296C>A (p.Leu766Met) c.2476C>A (p.Leu826Met) c.2143C>A (p.Leu715Met) | |
7 | g.117592553C>G | CA368981102 | CFTR | c.2386C>G (p.Leu796Val) c.*2100C>G (n.*2100C>G) c.2203C>G (p.Leu735Val) c.*686C>G (n.*686C>G) c.*2210C>G (n.*2210C>G) c.1960C>G (p.Leu654Val) c.36C>G c.1402-10273C>G (n.1402-10273C>G) c.2296C>G (p.Leu766Val) c.2476C>G (p.Leu826Val) c.2143C>G (p.Leu715Val) | |
7 | g.117592553C>T | CA457449951 | CFTR | c.2386C>T (p.Leu796=) c.*2100C>T (n.*2100C>T) c.2203C>T (p.Leu735=) c.*686C>T (n.*686C>T) c.*2210C>T (n.*2210C>T) c.1960C>T (p.Leu654=) c.36C>T c.1402-10273C>T (n.1402-10273C>T) c.2296C>T (p.Leu766=) c.2476C>T (p.Leu826=) c.2143C>T (p.Leu715=) | gnomAD v4 |
7 | g.117592554T>A | CA368981106 | CFTR | c.2387T>A (p.Leu796Gln) c.*2101T>A (n.*2101T>A) c.2204T>A (p.Leu735Gln) c.*687T>A (n.*687T>A) c.*2211T>A (n.*2211T>A) c.1961T>A (p.Leu654Gln) c.37T>A c.1402-10272T>A (n.1402-10272T>A) c.2297T>A (p.Leu766Gln) c.2477T>A (p.Leu826Gln) c.2144T>A (p.Leu715Gln) | ClinVar gnomAD v4 |
7 | g.117592554T>C | CA368981104 | CFTR | c.2387T>C (p.Leu796Pro) c.*2101T>C (n.*2101T>C) c.2204T>C (p.Leu735Pro) c.*687T>C (n.*687T>C) c.*2211T>C (n.*2211T>C) c.1961T>C (p.Leu654Pro) c.37T>C c.1402-10272T>C (n.1402-10272T>C) c.2297T>C (p.Leu766Pro) c.2477T>C (p.Leu826Pro) c.2144T>C (p.Leu715Pro) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.117592554T>G | CA368981105 | CFTR | c.2387T>G (p.Leu796Arg) c.*2101T>G (n.*2101T>G) c.2204T>G (p.Leu735Arg) c.*687T>G (n.*687T>G) c.*2211T>G (n.*2211T>G) c.1961T>G (p.Leu654Arg) c.37T>G c.1402-10272T>G (n.1402-10272T>G) c.2297T>G (p.Leu766Arg) c.2477T>G (p.Leu826Arg) c.2144T>G (p.Leu715Arg) | |
7 | g.117592554T= | CA1737395480 | CFTR | c.2387T= (p.Leu796=) c.*2101T= (n.*2101T=) c.2204T= (p.Leu735=) c.*687T= (n.*687T=) c.*2211T= (n.*2211T=) c.1961T= (p.Leu654=) c.37T= c.1402-10272T= (n.1402-10272T=) c.2297T= (p.Leu766=) c.2477T= (p.Leu826=) c.2144T= (p.Leu715=) | |
7 | g.117592555G>A | CA457449956 | CFTR | c.2388G>A (p.Leu796=) c.*2102G>A (n.*2102G>A) c.2205G>A (p.Leu735=) c.*688G>A (n.*688G>A) c.*2212G>A (n.*2212G>A) c.1962G>A (p.Leu654=) c.38G>A c.1402-10271G>A (n.1402-10271G>A) c.2298G>A (p.Leu766=) c.2478G>A (p.Leu826=) c.2145G>A (p.Leu715=) | |
7 | g.117592555G>C | CA457449959 | CFTR | c.2388G>C (p.Leu796=) c.*2102G>C (n.*2102G>C) c.2205G>C (p.Leu735=) c.*688G>C (n.*688G>C) c.*2212G>C (n.*2212G>C) c.1962G>C (p.Leu654=) c.38G>C c.1402-10271G>C (n.1402-10271G>C) c.2298G>C (p.Leu766=) c.2478G>C (p.Leu826=) c.2145G>C (p.Leu715=) | |
7 | g.117592555G>T | CA457449958 | CFTR | c.2388G>T (p.Leu796=) c.*2102G>T (n.*2102G>T) c.2205G>T (p.Leu735=) c.*688G>T (n.*688G>T) c.*2212G>T (n.*2212G>T) c.1962G>T (p.Leu654=) c.38G>T c.1402-10271G>T (n.1402-10271G>T) c.2298G>T (p.Leu766=) c.2478G>T (p.Leu826=) c.2145G>T (p.Leu715=) | |
7 | g.117592556G>A | CA368981107 | CFTR | c.2389G>A (p.Ala797Thr) c.*2103G>A (n.*2103G>A) c.2206G>A (p.Ala736Thr) c.*689G>A (n.*689G>A) c.*2213G>A (n.*2213G>A) c.1963G>A (p.Ala655Thr) c.39G>A c.1402-10270G>A (n.1402-10270G>A) c.2299G>A (p.Ala767Thr) c.2479G>A (p.Ala827Thr) c.2146G>A (p.Ala716Thr) | dbSNP gnomAD v4 |
7 | g.117592556G>C | CA368981108 | CFTR | c.2389G>C (p.Ala797Pro) c.*2103G>C (n.*2103G>C) c.2206G>C (p.Ala736Pro) c.*689G>C (n.*689G>C) c.*2213G>C (n.*2213G>C) c.1963G>C (p.Ala655Pro) c.39G>C c.1402-10270G>C (n.1402-10270G>C) c.2299G>C (p.Ala767Pro) c.2479G>C (p.Ala827Pro) c.2146G>C (p.Ala716Pro) | |
7 | g.117592556G= | CA1737395485 | CFTR | c.2389G= (p.Ala797=) c.*2103G= (n.*2103G=) c.2206G= (p.Ala736=) c.*689G= (n.*689G=) c.*2213G= (n.*2213G=) c.1963G= (p.Ala655=) c.39G= c.1402-10270G= (n.1402-10270G=) c.2299G= (p.Ala767=) c.2479G= (p.Ala827=) c.2146G= (p.Ala716=) | |
7 | g.117592556G>T | CA368981109 | CFTR | c.2389G>T (p.Ala797Ser) c.*2103G>T (n.*2103G>T) c.2206G>T (p.Ala736Ser) c.*689G>T (n.*689G>T) c.*2213G>T (n.*2213G>T) c.1963G>T (p.Ala655Ser) c.39G>T c.1402-10270G>T (n.1402-10270G>T) c.2299G>T (p.Ala767Ser) c.2479G>T (p.Ala827Ser) c.2146G>T (p.Ala716Ser) | ClinVar gnomAD v4 |
7 | g.117592557C>A | CA368981110 | CFTR | c.2390C>A (p.Ala797Asp) c.*2104C>A (n.*2104C>A) c.2207C>A (p.Ala736Asp) c.*690C>A (n.*690C>A) c.*2214C>A (n.*2214C>A) c.1964C>A (p.Ala655Asp) c.40C>A c.1402-10269C>A (n.1402-10269C>A) c.2300C>A (p.Ala767Asp) c.2480C>A (p.Ala827Asp) c.2147C>A (p.Ala716Asp) | |
7 | g.117592557C>G | CA368981111 | CFTR | c.2390C>G (p.Ala797Gly) c.*2104C>G (n.*2104C>G) c.2207C>G (p.Ala736Gly) c.*690C>G (n.*690C>G) c.*2214C>G (n.*2214C>G) c.1964C>G (p.Ala655Gly) c.40C>G c.1402-10269C>G (n.1402-10269C>G) c.2300C>G (p.Ala767Gly) c.2480C>G (p.Ala827Gly) c.2147C>G (p.Ala716Gly) | ClinVar dbSNP |
7 | g.117592557C>T | CA368981112 | CFTR | c.2390C>T (p.Ala797Val) c.*2104C>T (n.*2104C>T) c.2207C>T (p.Ala736Val) c.*690C>T (n.*690C>T) c.*2214C>T (n.*2214C>T) c.1964C>T (p.Ala655Val) c.40C>T c.1402-10269C>T (n.1402-10269C>T) c.2300C>T (p.Ala767Val) c.2480C>T (p.Ala827Val) c.2147C>T (p.Ala716Val) | |
7 | g.117592560dup | CA326809 | CFTR | c.2393dup (p.Gln799SerfsTer6) c.*2107dup (n.*2107dup) c.2210dup (p.Gln738SerfsTer6) c.*693dup (n.*693dup) c.*2217dup (n.*2217dup) c.1967dup (p.Gln657SerfsTer6) c.43dup c.1402-10266dup (n.1402-10266dup) c.2303dup (p.Gln769SerfsTer6) c.2483dup (p.Gln829SerfsTer6) c.2150dup (p.Gln718SerfsTer6) | ClinVar dbSNP |
7 | g.117592558C>A | CA164948266 | CFTR | c.2391C>A (p.Ala797=) c.*2105C>A (n.*2105C>A) c.2208C>A (p.Ala736=) c.*691C>A (n.*691C>A) c.*2215C>A (n.*2215C>A) c.1965C>A (p.Ala655=) c.41C>A c.1402-10268C>A (n.1402-10268C>A) c.2301C>A (p.Ala767=) c.2481C>A (p.Ala827=) c.2148C>A (p.Ala716=) | dbSNP gnomAD v4 |
7 | g.117592558C= | CA1737395493 | CFTR | c.2391C= (p.Ala797=) c.*2105C= (n.*2105C=) c.2208C= (p.Ala736=) c.*691C= (n.*691C=) c.*2215C= (n.*2215C=) c.1965C= (p.Ala655=) c.41C= c.1402-10268C= (n.1402-10268C=) c.2301C= (p.Ala767=) c.2481C= (p.Ala827=) c.2148C= (p.Ala716=) | |
7 | g.117592558C>G | CA457449968 | CFTR | c.2391C>G (p.Ala797=) c.*2105C>G (n.*2105C>G) c.2208C>G (p.Ala736=) c.*691C>G (n.*691C>G) c.*2215C>G (n.*2215C>G) c.1965C>G (p.Ala655=) c.41C>G c.1402-10268C>G (n.1402-10268C>G) c.2301C>G (p.Ala767=) c.2481C>G (p.Ala827=) c.2148C>G (p.Ala716=) | gnomAD v4 |
7 | g.117592558C>T | CA457449970 | CFTR | c.2391C>T (p.Ala797=) c.*2105C>T (n.*2105C>T) c.2208C>T (p.Ala736=) c.*691C>T (n.*691C>T) c.*2215C>T (n.*2215C>T) c.1965C>T (p.Ala655=) c.41C>T c.1402-10268C>T (n.1402-10268C>T) c.2301C>T (p.Ala767=) c.2481C>T (p.Ala827=) c.2148C>T (p.Ala716=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117592559C>A | CA368981113 | CFTR | c.2392C>A (p.Pro798Thr) c.*2106C>A (n.*2106C>A) c.2209C>A (p.Pro737Thr) c.*692C>A (n.*692C>A) c.*2216C>A (n.*2216C>A) c.1966C>A (p.Pro656Thr) c.42C>A c.1402-10267C>A (n.1402-10267C>A) c.2302C>A (p.Pro768Thr) c.2482C>A (p.Pro828Thr) c.2149C>A (p.Pro717Thr) | |
7 | g.117592559C= | CA1737395497 | CFTR | c.2392C= (p.Pro798=) c.*2106C= (n.*2106C=) c.2209C= (p.Pro737=) c.*692C= (n.*692C=) c.*2216C= (n.*2216C=) c.1966C= (p.Pro656=) c.42C= c.1402-10267C= (n.1402-10267C=) c.2302C= (p.Pro768=) c.2482C= (p.Pro828=) c.2149C= (p.Pro717=) | |
7 | g.117592559C>G | CA368981114 | CFTR | c.2392C>G (p.Pro798Ala) c.*2106C>G (n.*2106C>G) c.2209C>G (p.Pro737Ala) c.*692C>G (n.*692C>G) c.*2216C>G (n.*2216C>G) c.1966C>G (p.Pro656Ala) c.42C>G c.1402-10267C>G (n.1402-10267C>G) c.2302C>G (p.Pro768Ala) c.2482C>G (p.Pro828Ala) c.2149C>G (p.Pro717Ala) | gnomAD v4 |
7 | g.117592559C>T | CA260215 | CFTR | c.2392C>T (p.Pro798Ser) c.*2106C>T (n.*2106C>T) c.2209C>T (p.Pro737Ser) c.*692C>T (n.*692C>T) c.*2216C>T (n.*2216C>T) c.1966C>T (p.Pro656Ser) c.42C>T c.1402-10267C>T (n.1402-10267C>T) c.2302C>T (p.Pro768Ser) c.2482C>T (p.Pro828Ser) c.2149C>T (p.Pro717Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117592560C>A | CA368981115 | CFTR | c.2393C>A (p.Pro798His) c.*2107C>A (n.*2107C>A) c.2210C>A (p.Pro737His) c.*693C>A (n.*693C>A) c.*2217C>A (n.*2217C>A) c.1967C>A (p.Pro656His) c.43C>A c.1402-10266C>A (n.1402-10266C>A) c.2303C>A (p.Pro768His) c.2483C>A (p.Pro828His) c.2150C>A (p.Pro717His) | |
7 | g.117592560C= | CA1737395502 | CFTR | c.2393C= (p.Pro798=) c.*2107C= (n.*2107C=) c.2210C= (p.Pro737=) c.*693C= (n.*693C=) c.*2217C= (n.*2217C=) c.1967C= (p.Pro656=) c.43C= c.1402-10266C= (n.1402-10266C=) c.2303C= (p.Pro768=) c.2483C= (p.Pro828=) c.2150C= (p.Pro717=) | |
7 | g.117592560C>G | CA368981116 | CFTR | c.2393C>G (p.Pro798Arg) c.*2107C>G (n.*2107C>G) c.2210C>G (p.Pro737Arg) c.*693C>G (n.*693C>G) c.*2217C>G (n.*2217C>G) c.1967C>G (p.Pro656Arg) c.43C>G c.1402-10266C>G (n.1402-10266C>G) c.2303C>G (p.Pro768Arg) c.2483C>G (p.Pro828Arg) c.2150C>G (p.Pro717Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.117592560C>T | CA368981117 | CFTR | c.2393C>T (p.Pro798Leu) c.*2107C>T (n.*2107C>T) c.2210C>T (p.Pro737Leu) c.*693C>T (n.*693C>T) c.*2217C>T (n.*2217C>T) c.1967C>T (p.Pro656Leu) c.43C>T c.1402-10266C>T (n.1402-10266C>T) c.2303C>T (p.Pro768Leu) c.2483C>T (p.Pro828Leu) c.2150C>T (p.Pro717Leu) | |
7 | g.117592561T>A | CA457448916 | CFTR | c.2394T>A (p.Pro798=) c.*2108T>A (n.*2108T>A) c.2211T>A (p.Pro737=) c.*694T>A (n.*694T>A) c.*2218T>A (n.*2218T>A) c.1968T>A (p.Pro656=) c.44T>A c.1402-10265T>A (n.1402-10265T>A) c.2304T>A (p.Pro768=) c.2484T>A (p.Pro828=) c.2151T>A (p.Pro717=) | |
7 | g.117592561T>C | CA457448917 | CFTR | c.2394T>C (p.Pro798=) c.*2108T>C (n.*2108T>C) c.2211T>C (p.Pro737=) c.*694T>C (n.*694T>C) c.*2218T>C (n.*2218T>C) c.1968T>C (p.Pro656=) c.44T>C c.1402-10265T>C (n.1402-10265T>C) c.2304T>C (p.Pro768=) c.2484T>C (p.Pro828=) c.2151T>C (p.Pro717=) | |
7 | g.117592561T>G | CA457448918 | CFTR | c.2394T>G (p.Pro798=) c.*2108T>G (n.*2108T>G) c.2211T>G (p.Pro737=) c.*694T>G (n.*694T>G) c.*2218T>G (n.*2218T>G) c.1968T>G (p.Pro656=) c.44T>G c.1402-10265T>G (n.1402-10265T>G) c.2304T>G (p.Pro768=) c.2484T>G (p.Pro828=) c.2151T>G (p.Pro717=) | |
7 | g.117592562C>A | CA164948282 | CFTR | c.2395C>A (p.Gln799Lys) c.*2109C>A (n.*2109C>A) c.2212C>A (p.Gln738Lys) c.*695C>A (n.*695C>A) c.*2219C>A (n.*2219C>A) c.1969C>A (p.Gln657Lys) c.45C>A c.1402-10264C>A (n.1402-10264C>A) c.2305C>A (p.Gln769Lys) c.2485C>A (p.Gln829Lys) c.2152C>A (p.Gln718Lys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.117592562C= | CA1737395506 | CFTR | c.2395C= (p.Gln799=) c.*2109C= (n.*2109C=) c.2212C= (p.Gln738=) c.*695C= (n.*695C=) c.*2219C= (n.*2219C=) c.1969C= (p.Gln657=) c.45C= c.1402-10264C= (n.1402-10264C=) c.2305C= (p.Gln769=) c.2485C= (p.Gln829=) c.2152C= (p.Gln718=) | |
7 | g.117592562C>G | CA368981120 | CFTR | c.2395C>G (p.Gln799Glu) c.*2109C>G (n.*2109C>G) c.2212C>G (p.Gln738Glu) c.*695C>G (n.*695C>G) c.*2219C>G (n.*2219C>G) c.1969C>G (p.Gln657Glu) c.45C>G c.1402-10264C>G (n.1402-10264C>G) c.2305C>G (p.Gln769Glu) c.2485C>G (p.Gln829Glu) c.2152C>G (p.Gln718Glu) | |
7 | g.117592562C>T | CA368981119 | CFTR | c.2395C>T (p.Gln799Ter) c.*2109C>T (n.*2109C>T) c.2212C>T (p.Gln738Ter) c.*695C>T (n.*695C>T) c.*2219C>T (n.*2219C>T) c.1969C>T (p.Gln657Ter) c.45C>T c.1402-10264C>T (n.1402-10264C>T) c.2305C>T (p.Gln769Ter) c.2485C>T (p.Gln829Ter) c.2152C>T (p.Gln718Ter) | ClinVar dbSNP |
7 | g.117592563A= | CA1737395512 | CFTR | c.2396A= (p.Gln799=) c.*2110A= (n.*2110A=) c.2213A= (p.Gln738=) c.*696A= (n.*696A=) c.*2220A= (n.*2220A=) c.1970A= (p.Gln657=) c.46A= c.1402-10263A= (n.1402-10263A=) c.2306A= (p.Gln769=) c.2486A= (p.Gln829=) c.2153A= (p.Gln718=) | |
7 | g.117592563A>C | CA368981122 | CFTR | c.2396A>C (p.Gln799Pro) c.*2110A>C (n.*2110A>C) c.2213A>C (p.Gln738Pro) c.*696A>C (n.*696A>C) c.*2220A>C (n.*2220A>C) c.1970A>C (p.Gln657Pro) c.46A>C c.1402-10263A>C (n.1402-10263A>C) c.2306A>C (p.Gln769Pro) c.2486A>C (p.Gln829Pro) c.2153A>C (p.Gln718Pro) | |
7 | g.117592563A>G | CA368981123 | CFTR | c.2396A>G (p.Gln799Arg) c.*2110A>G (n.*2110A>G) c.2213A>G (p.Gln738Arg) c.*696A>G (n.*696A>G) c.*2220A>G (n.*2220A>G) c.1970A>G (p.Gln657Arg) c.46A>G c.1402-10263A>G (n.1402-10263A>G) c.2306A>G (p.Gln769Arg) c.2486A>G (p.Gln829Arg) c.2153A>G (p.Gln718Arg) | dbSNP gnomAD v4 |
7 | g.117592563A>T | CA368981124 | CFTR | c.2396A>T (p.Gln799Leu) c.*2110A>T (n.*2110A>T) c.2213A>T (p.Gln738Leu) c.*696A>T (n.*696A>T) c.*2220A>T (n.*2220A>T) c.1970A>T (p.Gln657Leu) c.46A>T c.1402-10263A>T (n.1402-10263A>T) c.2306A>T (p.Gln769Leu) c.2486A>T (p.Gln829Leu) c.2153A>T (p.Gln718Leu) | |
7 | g.117592564G>A | CA457448921 | CFTR | c.2397G>A (p.Gln799=) c.*2111G>A (n.*2111G>A) c.2214G>A (p.Gln738=) c.*697G>A (n.*697G>A) c.*2221G>A (n.*2221G>A) c.1971G>A (p.Gln657=) c.47G>A c.1402-10262G>A (n.1402-10262G>A) c.2307G>A (p.Gln769=) c.2487G>A (p.Gln829=) c.2154G>A (p.Gln718=) | ClinVar |
7 | g.117592564G>C | CA368981125 | CFTR | c.2397G>C (p.Gln799His) c.*2111G>C (n.*2111G>C) c.2214G>C (p.Gln738His) c.*697G>C (n.*697G>C) c.*2221G>C (n.*2221G>C) c.1971G>C (p.Gln657His) c.47G>C c.1402-10262G>C (n.1402-10262G>C) c.2307G>C (p.Gln769His) c.2487G>C (p.Gln829His) c.2154G>C (p.Gln718His) | |
7 | g.117592564G>T | CA368981127 | CFTR | c.2397G>T (p.Gln799His) c.*2111G>T (n.*2111G>T) c.2214G>T (p.Gln738His) c.*697G>T (n.*697G>T) c.*2221G>T (n.*2221G>T) c.1971G>T (p.Gln657His) c.47G>T c.1402-10262G>T (n.1402-10262G>T) c.2307G>T (p.Gln769His) c.2487G>T (p.Gln829His) c.2154G>T (p.Gln718His) | |
7 | g.117592565G>A | CA368981128 | CFTR | c.2398G>A (p.Ala800Thr) c.*2112G>A (n.*2112G>A) c.2215G>A (p.Ala739Thr) c.*698G>A (n.*698G>A) c.*2222G>A (n.*2222G>A) c.1972G>A (p.Ala658Thr) c.48G>A c.1402-10261G>A (n.1402-10261G>A) c.2308G>A (p.Ala770Thr) c.2488G>A (p.Ala830Thr) c.2155G>A (p.Ala719Thr) | gnomAD v4 |
7 | g.117592565G>C | CA368981129 | CFTR | c.2398G>C (p.Ala800Pro) c.*2112G>C (n.*2112G>C) c.2215G>C (p.Ala739Pro) c.*698G>C (n.*698G>C) c.*2222G>C (n.*2222G>C) c.1972G>C (p.Ala658Pro) c.48G>C c.1402-10261G>C (n.1402-10261G>C) c.2308G>C (p.Ala770Pro) c.2488G>C (p.Ala830Pro) c.2155G>C (p.Ala719Pro) | |
7 | g.117592565G= | CA1737395515 | CFTR | c.2398G= (p.Ala800=) c.*2112G= (n.*2112G=) c.2215G= (p.Ala739=) c.*698G= (n.*698G=) c.*2222G= (n.*2222G=) c.1972G= (p.Ala658=) c.48G= c.1402-10261G= (n.1402-10261G=) c.2308G= (p.Ala770=) c.2488G= (p.Ala830=) c.2155G= (p.Ala719=) | |
7 | g.117592565G>T | CA4451179 | CFTR | c.2398G>T (p.Ala800Ser) c.*2112G>T (n.*2112G>T) c.2215G>T (p.Ala739Ser) c.*698G>T (n.*698G>T) c.*2222G>T (n.*2222G>T) c.1972G>T (p.Ala658Ser) c.48G>T c.1402-10261G>T (n.1402-10261G>T) c.2308G>T (p.Ala770Ser) c.2488G>T (p.Ala830Ser) c.2155G>T (p.Ala719Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.117592566C>A | CA368981132 | CFTR | c.2399C>A (p.Ala800Glu) c.*2113C>A (n.*2113C>A) c.2216C>A (p.Ala739Glu) c.*699C>A (n.*699C>A) c.*2223C>A (n.*2223C>A) c.1973C>A (p.Ala658Glu) c.49C>A c.1402-10260C>A (n.1402-10260C>A) c.2309C>A (p.Ala770Glu) c.2489C>A (p.Ala830Glu) c.2156C>A (p.Ala719Glu) | ClinVar gnomAD v4 |
7 | g.117592566C= | CA1737395519 | CFTR | c.2399C= (p.Ala800=) c.*2113C= (n.*2113C=) c.2216C= (p.Ala739=) c.*699C= (n.*699C=) c.*2223C= (n.*2223C=) c.1973C= (p.Ala658=) c.49C= c.1402-10260C= (n.1402-10260C=) c.2309C= (p.Ala770=) c.2489C= (p.Ala830=) c.2156C= (p.Ala719=) | |
7 | g.117592566C>G | CA326810 | CFTR | c.2399C>G (p.Ala800Gly) c.*2113C>G (n.*2113C>G) c.2216C>G (p.Ala739Gly) c.*699C>G (n.*699C>G) c.*2223C>G (n.*2223C>G) c.1973C>G (p.Ala658Gly) c.49C>G c.1402-10260C>G (n.1402-10260C>G) c.2309C>G (p.Ala770Gly) c.2489C>G (p.Ala830Gly) c.2156C>G (p.Ala719Gly) | ClinVar dbSNP |
7 | g.117592566C>T | CA368981134 | CFTR | c.2399C>T (p.Ala800Val) c.*2113C>T (n.*2113C>T) c.2216C>T (p.Ala739Val) c.*699C>T (n.*699C>T) c.*2223C>T (n.*2223C>T) c.1973C>T (p.Ala658Val) c.49C>T c.1402-10260C>T (n.1402-10260C>T) c.2309C>T (p.Ala770Val) c.2489C>T (p.Ala830Val) c.2156C>T (p.Ala719Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.117592567A= | CA1737395524 | CFTR | c.2400A= (p.Ala800=) c.*2114A= (n.*2114A=) c.2217A= (p.Ala739=) c.*700A= (n.*700A=) c.*2224A= (n.*2224A=) c.1974A= (p.Ala658=) c.50A= c.1402-10259A= (n.1402-10259A=) c.2310A= (p.Ala770=) c.2490A= (p.Ala830=) c.2157A= (p.Ala719=) | |
7 | g.117592567A>C | CA457448924 | CFTR | c.2400A>C (p.Ala800=) c.*2114A>C (n.*2114A>C) c.2217A>C (p.Ala739=) c.*700A>C (n.*700A>C) c.*2224A>C (n.*2224A>C) c.1974A>C (p.Ala658=) c.50A>C c.1402-10259A>C (n.1402-10259A>C) c.2310A>C (p.Ala770=) c.2490A>C (p.Ala830=) c.2157A>C (p.Ala719=) | |
7 | g.117592567A>G | CA457448925 | CFTR | c.2400A>G (p.Ala800=) c.*2114A>G (n.*2114A>G) c.2217A>G (p.Ala739=) c.*700A>G (n.*700A>G) c.*2224A>G (n.*2224A>G) c.1974A>G (p.Ala658=) c.50A>G c.1402-10259A>G (n.1402-10259A>G) c.2310A>G (p.Ala770=) c.2490A>G (p.Ala830=) c.2157A>G (p.Ala719=) | |
7 | g.117592567A>T | CA164948307 | CFTR | c.2400A>T (p.Ala800=) c.*2114A>T (n.*2114A>T) c.2217A>T (p.Ala739=) c.*700A>T (n.*700A>T) c.*2224A>T (n.*2224A>T) c.1974A>T (p.Ala658=) c.50A>T c.1402-10259A>T (n.1402-10259A>T) c.2310A>T (p.Ala770=) c.2490A>T (p.Ala830=) c.2157A>T (p.Ala719=) | dbSNP |
7 | g.117592568A= | CA1737395527 | CFTR | c.2401A= (p.Asn801=) c.*2115A= (n.*2115A=) c.2218A= (p.Asn740=) c.*701A= (n.*701A=) c.*2225A= (n.*2225A=) c.1975A= (p.Asn659=) c.51A= c.1402-10258A= (n.1402-10258A=) c.2311A= (p.Asn771=) c.2491A= (p.Asn831=) c.2158A= (p.Asn720=) | |
7 | g.117592568A>C | CA368981138 | CFTR | c.2401A>C (p.Asn801His) c.*2115A>C (n.*2115A>C) c.2218A>C (p.Asn740His) c.*701A>C (n.*701A>C) c.*2225A>C (n.*2225A>C) c.1975A>C (p.Asn659His) c.51A>C c.1402-10258A>C (n.1402-10258A>C) c.2311A>C (p.Asn771His) c.2491A>C (p.Asn831His) c.2158A>C (p.Asn720His) | |
7 | g.117592568A>G | CA368981141 | CFTR | c.2401A>G (p.Asn801Asp) c.*2115A>G (n.*2115A>G) c.2218A>G (p.Asn740Asp) c.*701A>G (n.*701A>G) c.*2225A>G (n.*2225A>G) c.1975A>G (p.Asn659Asp) c.51A>G c.1402-10258A>G (n.1402-10258A>G) c.2311A>G (p.Asn771Asp) c.2491A>G (p.Asn831Asp) c.2158A>G (p.Asn720Asp) | |
7 | g.117592568A>T | CA368981139 | CFTR | c.2401A>T (p.Asn801Tyr) c.*2115A>T (n.*2115A>T) c.2218A>T (p.Asn740Tyr) c.*701A>T (n.*701A>T) c.*2225A>T (n.*2225A>T) c.1975A>T (p.Asn659Tyr) c.51A>T c.1402-10258A>T (n.1402-10258A>T) c.2311A>T (p.Asn771Tyr) c.2491A>T (p.Asn831Tyr) c.2158A>T (p.Asn720Tyr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117592569A= | CA1737395533 | CFTR | c.2402A= (p.Asn801=) c.*2116A= (n.*2116A=) c.2219A= (p.Asn740=) c.*702A= (n.*702A=) c.*2226A= (n.*2226A=) c.1976A= (p.Asn659=) c.52A= c.1402-10257A= (n.1402-10257A=) c.2312A= (p.Asn771=) c.2492A= (p.Asn831=) c.2159A= (p.Asn720=) | |
7 | g.117592569A>C | CA368981142 | CFTR | c.2402A>C (p.Asn801Thr) c.*2116A>C (n.*2116A>C) c.2219A>C (p.Asn740Thr) c.*702A>C (n.*702A>C) c.*2226A>C (n.*2226A>C) c.1976A>C (p.Asn659Thr) c.52A>C c.1402-10257A>C (n.1402-10257A>C) c.2312A>C (p.Asn771Thr) c.2492A>C (p.Asn831Thr) c.2159A>C (p.Asn720Thr) | |
7 | g.117592569A>G | CA368981144 | CFTR | c.2402A>G (p.Asn801Ser) c.*2116A>G (n.*2116A>G) c.2219A>G (p.Asn740Ser) c.*702A>G (n.*702A>G) c.*2226A>G (n.*2226A>G) c.1976A>G (p.Asn659Ser) c.52A>G c.1402-10257A>G (n.1402-10257A>G) c.2312A>G (p.Asn771Ser) c.2492A>G (p.Asn831Ser) c.2159A>G (p.Asn720Ser) | ClinVar dbSNP |
7 | g.117592569A>T | CA368981146 | CFTR | c.2402A>T (p.Asn801Ile) c.*2116A>T (n.*2116A>T) c.2219A>T (p.Asn740Ile) c.*702A>T (n.*702A>T) c.*2226A>T (n.*2226A>T) c.1976A>T (p.Asn659Ile) c.52A>T c.1402-10257A>T (n.1402-10257A>T) c.2312A>T (p.Asn771Ile) c.2492A>T (p.Asn831Ile) c.2159A>T (p.Asn720Ile) | ClinVar gnomAD v4 |
7 | g.117592570C>A | CA368981147 | CFTR | c.2403C>A (p.Asn801Lys) c.*2117C>A (n.*2117C>A) c.2220C>A (p.Asn740Lys) c.*703C>A (n.*703C>A) c.*2227C>A (n.*2227C>A) c.1977C>A (p.Asn659Lys) c.53C>A c.1402-10256C>A (n.1402-10256C>A) c.2313C>A (p.Asn771Lys) c.2493C>A (p.Asn831Lys) c.2160C>A (p.Asn720Lys) | |
7 | g.117592570C= | CA1737395537 | CFTR | c.2403C= (p.Asn801=) c.*2117C= (n.*2117C=) c.2220C= (p.Asn740=) c.*703C= (n.*703C=) c.*2227C= (n.*2227C=) c.1977C= (p.Asn659=) c.53C= c.1402-10256C= (n.1402-10256C=) c.2313C= (p.Asn771=) c.2493C= (p.Asn831=) c.2160C= (p.Asn720=) | |
7 | g.117592570C>G | CA368981148 | CFTR | c.2403C>G (p.Asn801Lys) c.*2117C>G (n.*2117C>G) c.2220C>G (p.Asn740Lys) c.*703C>G (n.*703C>G) c.*2227C>G (n.*2227C>G) c.1977C>G (p.Asn659Lys) c.53C>G c.1402-10256C>G (n.1402-10256C>G) c.2313C>G (p.Asn771Lys) c.2493C>G (p.Asn831Lys) c.2160C>G (p.Asn720Lys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.117592570C>T | CA4451180 | CFTR | c.2403C>T (p.Asn801=) c.*2117C>T (n.*2117C>T) c.2220C>T (p.Asn740=) c.*703C>T (n.*703C>T) c.*2227C>T (n.*2227C>T) c.1977C>T (p.Asn659=) c.53C>T c.1402-10256C>T (n.1402-10256C>T) c.2313C>T (p.Asn771=) c.2493C>T (p.Asn831=) c.2160C>T (p.Asn720=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.117592571T>A | CA368981149 | CFTR | c.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) | |
7 | g.117592571T>C | CA457448929 | CFTR | c.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=) | |
7 | g.117592571T>G | CA368981151 | CFTR | c.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 |
7 | g.117592572T>A | CA368981152 | CFTR | c.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) | |
7 | g.117592572T>C | CA368981153 | CFTR | c.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 |
7 | g.117592572T>G | CA368981155 | CFTR | c.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) | |
7 | g.117592573G>A | CA457448932 | CFTR | c.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=) | |
7 | g.117592573G>C | CA368981156 | CFTR | c.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 |
7 | g.117592573G= | CA1737395540 | CFTR | c.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=) | |
7 | g.117592573G>T | CA368981157 | CFTR | c.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 |
7 | g.117592574A= | CA1737395543 | CFTR | c.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=) | |
7 | g.117592574A>C | CA368981159 | CFTR | c.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) | |
7 | g.117592574A>G | CA368981163 | CFTR | c.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) | |
7 | g.117592574A>T | CA368981161 | CFTR | c.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 |
7 | g.117592575C>A | CA368981165 | CFTR | c.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) | |
7 | g.117592575C>G | CA368981167 | CFTR | c.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) | |
7 | g.117592575C>T | CA368981168 | CFTR | c.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 |
7 | g.117592576T>A | CA457448935 | CFTR | c.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=) | |
7 | g.117592576T>C | CA457448936 | CFTR | c.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 |
7 | g.117592576T>G | CA457448938 | CFTR | c.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 |
7 | g.117592577G>A | CA368981169 | CFTR | c.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 |
7 | g.117592577G>C | CA368981171 | CFTR | c.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) | |
7 | g.117592577G= | CA1737395553 | CFTR | c.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=) | |
7 | g.117592577G>T | CA368981172 | CFTR | c.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 |
7 | g.117592578A= | CA1737395556 | CFTR | c.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=) | |
7 | g.117592578A>C | CA368981173 | CFTR | c.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) | |
7 | g.117592578A>G | CA368981175 | CFTR | c.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) | |
7 | g.117592578A>T | CA326811 | CFTR | c.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 |
7 | g.117592579A= | CA1737395559 | CFTR | c.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=) | |
7 | g.117592579A>C | CA368981178 | CFTR | c.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 |
7 | g.117592579A>G | CA457448940 | CFTR | c.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 |
7 | g.117592579A>T | CA368981179 | CFTR | c.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) | |
7 | g.117592580C>A | CA368981182 | CFTR | c.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 |
7 | g.117592580C>G | CA368981181 | CFTR | c.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) | |
7 | g.117592580C>T | CA457448942 | CFTR | c.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 |
7 | g.117592581T>A | CA368981183 | CFTR | c.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) | |
7 | g.117592581T>C | CA368981184 | CFTR | c.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) | |
7 | g.117592581T>G | CA368981187 | CFTR | c.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) | |
7 | g.117592582G>A | CA457448943 | CFTR | c.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=) | |
7 | g.117592582G>C | CA457448944 | CFTR | c.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 |
7 | g.117592582G>T | CA457448945 | CFTR | c.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=) | |
7 | g.117592583G>A | CA368981189 | CFTR | c.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 |
7 | g.117592583G>C | CA368981191 | CFTR | c.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) | ClinVar |
7 | g.117592583G= | CA1737395563 | CFTR | c.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=) | |
7 | g.117592583G>T | CA368981193 | CFTR | c.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) | |
7 | g.117592584A= | CA1737395569 | CFTR | c.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=) | |
7 | g.117592584A>C | CA368981196 | CFTR | c.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) | |
7 | g.117592584A>G | CA326813 | CFTR | c.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 |
7 | g.117592584A>T | CA368981195 | CFTR | c.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) | |
7 | g.117592590_117592591dup | CA254109 | CFTR | c.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 |
7 | g.117592585T>A | CA368981198 | CFTR | c.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 |
7 | g.117592585T>C | CA457448950 | CFTR | c.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=) | |
7 | g.117592585T>G | CA368981200 | CFTR | c.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) | |
7 | g.117592585T= | CA1737395573 | CFTR | c.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=) | |
7 | g.117592586A= | CA1737395576 | CFTR | c.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=) | |
7 | g.117592586A>C | CA368981203 | CFTR | c.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) | |
7 | g.117592586A>G | CA368981205 | CFTR | c.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 |
7 | g.117592586A>T | CA368981206 | CFTR | c.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) | |
7 | g.117592587T>A | CA368981210 | CFTR | c.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) | |
7 | g.117592587T>C | CA368981212 | CFTR | c.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 |
7 | g.117592587T>G | CA368981208 | CFTR | c.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) | |
7 | g.117592587T= | CA1737395579 | CFTR | c.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=) | |
7 | g.117592588A= | CA1737395586 | CFTR | c.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=) | |
7 | g.117592588A>C | CA457448952 | CFTR | c.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 |
7 | g.117592588A>G | CA260217 | CFTR | c.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 |
7 | g.117592588A>T | CA457448953 | CFTR | c.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=) | |
7 | g.117592589T>A | CA368981220 | CFTR | c.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) | |
7 | g.117592589T>C | CA368981217 | CFTR | c.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) | |
7 | g.117592589T>G | CA368981219 | CFTR | c.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) | |
7 | g.117592590A= | CA1737395592 | CFTR | c.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=) | |
7 | g.117592590A>C | CA368981223 | CFTR | c.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) | |
7 | g.117592590A>G | CA368981225 | CFTR | c.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) | |
7 | g.117592590A>T | CA368981227 | CFTR | c.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 |
7 | g.117592591T>A | CA368981228 | CFTR | c.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) | |
7 | g.117592591T>C | CA4451181 | CFTR | c.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 |
7 | g.117592591T>G | CA368981230 | CFTR | c.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) | |
7 | g.117592591T= | CA1737395597 | CFTR | c.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=) | |
7 | g.117592592T>A | CA368981233 | CFTR | c.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) | |
7 | g.117592592T>C | CA368981235 | CFTR | c.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) | |
7 | g.117592592T>G | CA368981236 | CFTR | c.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) | |
7 | g.117592593C>A | CA368981237 | CFTR | c.2426C>A (p.Ser809Ter) c.*2140C>A (n.*2140C>A) c.2243C>A (p.Ser748Ter) c.*726C>A (n.*726C>A) c.*2250C>A (n.*2250C>A) c.2000C>A (p.Ser667Ter) c.17C>A (p.Ser6Ter) c.76C>A c.1402-10233C>A (n.1402-10233C>A) c.2336C>A (p.Ser779Ter) c.2516C>A (p.Ser839Ter) c.2183C>A (p.Ser728Ter) | ClinVar dbSNP gnomAD v4 |
7 | g.117592593C= | CA1737395603 | CFTR | c.2426C= (p.Ser809=) c.*2140C= (n.*2140C=) c.2243C= (p.Ser748=) c.*726C= (n.*726C=) c.*2250C= (n.*2250C=) c.2000C= (p.Ser667=) c.17C= (p.Ser6=) c.76C= c.1402-10233C= (n.1402-10233C=) c.2336C= (p.Ser779=) c.2516C= (p.Ser839=) c.2183C= (p.Ser728=) | |
7 | g.117592593C>G | CA368981241 | CFTR | c.2426C>G (p.Ser809Ter) c.*2140C>G (n.*2140C>G) c.2243C>G (p.Ser748Ter) c.*726C>G (n.*726C>G) c.*2250C>G (n.*2250C>G) c.2000C>G (p.Ser667Ter) c.17C>G (p.Ser6Ter) c.76C>G c.1402-10233C>G (n.1402-10233C>G) c.2336C>G (p.Ser779Ter) c.2516C>G (p.Ser839Ter) c.2183C>G (p.Ser728Ter) | COSMIC |
7 | g.117592593C>T | CA368981239 | CFTR | c.2426C>T (p.Ser809Leu) c.*2140C>T (n.*2140C>T) c.2243C>T (p.Ser748Leu) c.*726C>T (n.*726C>T) c.*2250C>T (n.*2250C>T) c.2000C>T (p.Ser667Leu) c.17C>T (p.Ser6Leu) c.76C>T c.1402-10233C>T (n.1402-10233C>T) c.2336C>T (p.Ser779Leu) c.2516C>T (p.Ser839Leu) c.2183C>T (p.Ser728Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.117592593_117592596del | CA913111880 | CFTR | c.2426_2429del (p.Ser809Ter) c.*2140_*2143del (n.*2140_*2143del) c.2243_2246del (p.Ser748Ter) c.*726_*729del (n.*726_*729del) c.*2250_*2253del (n.*2250_*2253del) c.2000_2003del (p.Ser667Ter) c.17_20del (p.Ser6Ter) c.76_79del c.1402-10233_1402-10230del (n.1402-10233_1402-10230del) c.2336_2339del (p.Ser779Ter) c.2516_2519del (p.Ser839Ter) c.2183_2186del (p.Ser728Ter) | |
7 | g.117592593_117592596delinsCAAG | CA1737395606 | CFTR | c.2426_2429delinsCAAG (p.Ser809=) c.*2140_*2143delinsCAAG (n.*2140_*2143delinsCAAG) c.2243_2246delinsCAAG (p.Ser748=) c.*726_*729delinsCAAG (n.*726_*729delinsCAAG) c.*2250_*2253delinsCAAG (n.*2250_*2253delinsCAAG) c.2000_2003delinsCAAG (p.Ser667=) c.17_20delinsCAAG (p.Ser6=) c.76_79delinsCAAG c.1402-10233_1402-10230delinsCAAG (n.1402-10233_1402-10230delinsCAAG) c.2336_2339delinsCAAG (p.Ser779=) c.2516_2519delinsCAAG (p.Ser839=) c.2183_2186delinsCAAG (p.Ser728=) | |
7 | g.117592594A>C | CA457448957 | CFTR | c.2427A>C (p.Ser809=) c.*2141A>C (n.*2141A>C) c.2244A>C (p.Ser748=) c.*727A>C (n.*727A>C) c.*2251A>C (n.*2251A>C) c.2001A>C (p.Ser667=) c.18A>C (p.Ser6=) c.77A>C c.1402-10232A>C (n.1402-10232A>C) c.2337A>C (p.Ser779=) c.2517A>C (p.Ser839=) c.2184A>C (p.Ser728=) | |
7 | g.117592594A>G | CA457448958 | CFTR | c.2427A>G (p.Ser809=) c.*2141A>G (n.*2141A>G) c.2244A>G (p.Ser748=) c.*727A>G (n.*727A>G) c.*2251A>G (n.*2251A>G) c.2001A>G (p.Ser667=) c.18A>G (p.Ser6=) c.77A>G c.1402-10232A>G (n.1402-10232A>G) c.2337A>G (p.Ser779=) c.2517A>G (p.Ser839=) c.2184A>G (p.Ser728=) | gnomAD v4 |
7 | g.117592594A>T | CA457448959 | CFTR | c.2427A>T (p.Ser809=) c.*2141A>T (n.*2141A>T) c.2244A>T (p.Ser748=) c.*727A>T (n.*727A>T) c.*2251A>T (n.*2251A>T) c.2001A>T (p.Ser667=) c.18A>T (p.Ser6=) c.77A>T c.1402-10232A>T (n.1402-10232A>T) c.2337A>T (p.Ser779=) c.2517A>T (p.Ser839=) c.2184A>T (p.Ser728=) | ClinVar |
7 | g.117592597_117592599del | CA658822500 | CFTR | c.2430_2432del (p.Arg811del) c.*2144_*2146del (n.*2144_*2146del) c.2247_2249del (p.Arg750del) c.*730_*732del (n.*730_*732del) c.*2254_*2256del (n.*2254_*2256del) c.2004_2006del (p.Arg669del) c.21_23del (p.Arg8del) c.80_82del c.1402-10229_1402-10227del (n.1402-10229_1402-10227del) c.2340_2342del (p.Arg781del) c.2520_2522del (p.Arg841del) c.2187_2189del (p.Arg730del) | ClinVar dbSNP |
7 | g.117592595A= | CA1737395614 | CFTR | c.2428A= (p.Arg810=) c.*2142A= (n.*2142A=) c.2245A= (p.Arg749=) c.*728A= (n.*728A=) c.*2252A= (n.*2252A=) c.2002A= (p.Arg668=) c.19A= (p.Arg7=) c.78A= c.1402-10231A= (n.1402-10231A=) c.2338A= (p.Arg780=) c.2518A= (p.Arg840=) c.2185A= (p.Arg729=) | |
7 | g.117592595A>C | CA457448960 | CFTR | c.2428A>C (p.Arg810=) c.*2142A>C (n.*2142A>C) c.2245A>C (p.Arg749=) c.*728A>C (n.*728A>C) c.*2252A>C (n.*2252A>C) c.2002A>C (p.Arg668=) c.19A>C (p.Arg7=) c.78A>C c.1402-10231A>C (n.1402-10231A>C) c.2338A>C (p.Arg780=) c.2518A>C (p.Arg840=) c.2185A>C (p.Arg729=) | |
7 | g.117592595A>G | CA326815 | CFTR | c.2428A>G (p.Arg810Gly) c.*2142A>G (n.*2142A>G) c.2245A>G (p.Arg749Gly) c.*728A>G (n.*728A>G) c.*2252A>G (n.*2252A>G) c.2002A>G (p.Arg668Gly) c.19A>G (p.Arg7Gly) c.78A>G c.1402-10231A>G (n.1402-10231A>G) c.2338A>G (p.Arg780Gly) c.2518A>G (p.Arg840Gly) c.2185A>G (p.Arg729Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117592595A>T | CA368981244 | CFTR | c.2428A>T (p.Arg810Ter) c.*2142A>T (n.*2142A>T) c.2245A>T (p.Arg749Ter) c.*728A>T (n.*728A>T) c.*2252A>T (n.*2252A>T) c.2002A>T (p.Arg668Ter) c.19A>T (p.Arg7Ter) c.78A>T c.1402-10231A>T (n.1402-10231A>T) c.2338A>T (p.Arg780Ter) c.2518A>T (p.Arg840Ter) c.2185A>T (p.Arg729Ter) | ClinVar dbSNP gnomAD v4 |
7 | g.117592595_117592596delinsAG | CA1737395617 | CFTR | c.2428_2429delinsAG (p.Arg810=) c.*2142_*2143delinsAG (n.*2142_*2143delinsAG) c.2245_2246delinsAG (p.Arg749=) c.*728_*729delinsAG (n.*728_*729delinsAG) c.*2252_*2253delinsAG (n.*2252_*2253delinsAG) c.2002_2003delinsAG (p.Arg668=) c.19_20delinsAG (p.Arg7=) c.78_79delinsAG c.1402-10231_1402-10230delinsAG (n.1402-10231_1402-10230delinsAG) c.2338_2339delinsAG (p.Arg780=) c.2518_2519delinsAG (p.Arg840=) c.2185_2186delinsAG (p.Arg729=) | |
7 | g.117592595_117592596delinsGA | CA645541507 | CFTR | c.2428_2429delinsGA (p.Arg810Glu) c.*2142_*2143delinsGA (n.*2142_*2143delinsGA) c.2245_2246delinsGA (p.Arg749Glu) c.*728_*729delinsGA (n.*728_*729delinsGA) c.*2252_*2253delinsGA (n.*2252_*2253delinsGA) c.2002_2003delinsGA (p.Arg668Glu) c.19_20delinsGA (p.Arg7Glu) c.78_79delinsGA c.1402-10231_1402-10230delinsGA (n.1402-10231_1402-10230delinsGA) c.2338_2339delinsGA (p.Arg780Glu) c.2518_2519delinsGA (p.Arg840Glu) c.2185_2186delinsGA (p.Arg729Glu) | COSMIC |
7 | g.117592596del | CA16041130 | CFTR | c.2429del (p.Arg810LysfsTer11) c.*2143del (n.*2143del) c.2246del (p.Arg749LysfsTer11) c.*729del (n.*729del) c.*2253del (n.*2253del) c.2003del (p.Arg668LysfsTer11) c.20del (p.Arg7LysfsTer11) c.79del c.1402-10230del (n.1402-10230del) c.2339del (p.Arg780LysfsTer11) c.2519del (p.Arg840LysfsTer11) c.2186del (p.Arg729LysfsTer11) | ClinVar dbSNP |
7 | g.117592596G>A | CA368981245 | CFTR | c.2429G>A (p.Arg810Lys) c.*2143G>A (n.*2143G>A) c.2246G>A (p.Arg749Lys) c.*729G>A (n.*729G>A) c.*2253G>A (n.*2253G>A) c.2003G>A (p.Arg668Lys) c.20G>A (p.Arg7Lys) c.79G>A c.1402-10230G>A (n.1402-10230G>A) c.2339G>A (p.Arg780Lys) c.2519G>A (p.Arg840Lys) c.2186G>A (p.Arg729Lys) | gnomAD v4 |
7 | g.117592596G>C | CA368981247 | CFTR | c.2429G>C (p.Arg810Thr) c.*2143G>C (n.*2143G>C) c.2246G>C (p.Arg749Thr) c.*729G>C (n.*729G>C) c.*2253G>C (n.*2253G>C) c.2003G>C (p.Arg668Thr) c.20G>C (p.Arg7Thr) c.79G>C c.1402-10230G>C (n.1402-10230G>C) c.2339G>C (p.Arg780Thr) c.2519G>C (p.Arg840Thr) c.2186G>C (p.Arg729Thr) | |
7 | g.117592596G>T | CA368981248 | CFTR | c.2429G>T (p.Arg810Ile) c.*2143G>T (n.*2143G>T) c.2246G>T (p.Arg749Ile) c.*729G>T (n.*729G>T) c.*2253G>T (n.*2253G>T) c.2003G>T (p.Arg668Ile) c.20G>T (p.Arg7Ile) c.79G>T c.1402-10230G>T (n.1402-10230G>T) c.2339G>T (p.Arg780Ile) c.2519G>T (p.Arg840Ile) c.2186G>T (p.Arg729Ile) | |
7 | g.117592597A>C | CA368981250 | CFTR | c.2430A>C (p.Arg810Ser) c.*2144A>C (n.*2144A>C) c.2247A>C (p.Arg749Ser) c.*730A>C (n.*730A>C) c.*2254A>C (n.*2254A>C) c.2004A>C (p.Arg668Ser) c.21A>C (p.Arg7Ser) c.80A>C c.1402-10229A>C (n.1402-10229A>C) c.2340A>C (p.Arg780Ser) c.2520A>C (p.Arg840Ser) c.2187A>C (p.Arg729Ser) | |
7 | g.117592597A>G | CA457448961 | CFTR | c.2430A>G (p.Arg810=) c.*2144A>G (n.*2144A>G) c.2247A>G (p.Arg749=) c.*730A>G (n.*730A>G) c.*2254A>G (n.*2254A>G) c.2004A>G (p.Arg668=) c.21A>G (p.Arg7=) c.80A>G c.1402-10229A>G (n.1402-10229A>G) c.2340A>G (p.Arg780=) c.2520A>G (p.Arg840=) c.2187A>G (p.Arg729=) | |
7 | g.117592597A>T | CA368981251 | CFTR | c.2430A>T (p.Arg810Ser) c.*2144A>T (n.*2144A>T) c.2247A>T (p.Arg749Ser) c.*730A>T (n.*730A>T) c.*2254A>T (n.*2254A>T) c.2004A>T (p.Arg668Ser) c.21A>T (p.Arg7Ser) c.80A>T c.1402-10229A>T (n.1402-10229A>T) c.2340A>T (p.Arg780Ser) c.2520A>T (p.Arg840Ser) c.2187A>T (p.Arg729Ser) | ClinVar gnomAD v4 |
7 | g.117592598A>C | CA457448962 | CFTR | c.2431A>C (p.Arg811=) c.*2145A>C (n.*2145A>C) c.2248A>C (p.Arg750=) c.*731A>C (n.*731A>C) c.*2255A>C (n.*2255A>C) c.2005A>C (p.Arg669=) c.22A>C (p.Arg8=) c.81A>C c.1402-10228A>C (n.1402-10228A>C) c.2341A>C (p.Arg781=) c.2521A>C (p.Arg841=) c.2188A>C (p.Arg730=) | |
7 | g.117592598A>G | CA368981253 | CFTR | c.2431A>G (p.Arg811Gly) c.*2145A>G (n.*2145A>G) c.2248A>G (p.Arg750Gly) c.*731A>G (n.*731A>G) c.*2255A>G (n.*2255A>G) c.2005A>G (p.Arg669Gly) c.22A>G (p.Arg8Gly) c.81A>G c.1402-10228A>G (n.1402-10228A>G) c.2341A>G (p.Arg781Gly) c.2521A>G (p.Arg841Gly) c.2188A>G (p.Arg730Gly) | gnomAD v4 |
7 | g.117592598A>T | CA368981255 | CFTR | c.2431A>T (p.Arg811Trp) c.*2145A>T (n.*2145A>T) c.2248A>T (p.Arg750Trp) c.*731A>T (n.*731A>T) c.*2255A>T (n.*2255A>T) c.2005A>T (p.Arg669Trp) c.22A>T (p.Arg8Trp) c.81A>T c.1402-10228A>T (n.1402-10228A>T) c.2341A>T (p.Arg781Trp) c.2521A>T (p.Arg841Trp) c.2188A>T (p.Arg730Trp) | |
7 | g.117592599G>A | CA368981259 | CFTR | c.2432G>A (p.Arg811Lys) c.*2146G>A (n.*2146G>A) c.2249G>A (p.Arg750Lys) c.*732G>A (n.*732G>A) c.*2256G>A (n.*2256G>A) c.2006G>A (p.Arg669Lys) c.23G>A (p.Arg8Lys) c.82G>A c.1402-10227G>A (n.1402-10227G>A) c.2342G>A (p.Arg781Lys) c.2522G>A (p.Arg841Lys) c.2189G>A (p.Arg730Lys) | dbSNP |
7 | g.117592599G>C | CA368981261 | CFTR | c.2432G>C (p.Arg811Thr) c.*2146G>C (n.*2146G>C) c.2249G>C (p.Arg750Thr) c.*732G>C (n.*732G>C) c.*2256G>C (n.*2256G>C) c.2006G>C (p.Arg669Thr) c.23G>C (p.Arg8Thr) c.82G>C c.1402-10227G>C (n.1402-10227G>C) c.2342G>C (p.Arg781Thr) c.2522G>C (p.Arg841Thr) c.2189G>C (p.Arg730Thr) | |
7 | g.117592599G= | CA1737395622 | CFTR | c.2432G= (p.Arg811=) c.*2146G= (n.*2146G=) c.2249G= (p.Arg750=) c.*732G= (n.*732G=) c.*2256G= (n.*2256G=) c.2006G= (p.Arg669=) c.23G= (p.Arg8=) c.82G= c.1402-10227G= (n.1402-10227G=) c.2342G= (p.Arg781=) c.2522G= (p.Arg841=) c.2189G= (p.Arg730=) | |
7 | g.117592599G>T | CA368981264 | CFTR | c.2432G>T (p.Arg811Met) c.*2146G>T (n.*2146G>T) c.2249G>T (p.Arg750Met) c.*732G>T (n.*732G>T) c.*2256G>T (n.*2256G>T) c.2006G>T (p.Arg669Met) c.23G>T (p.Arg8Met) c.82G>T c.1402-10227G>T (n.1402-10227G>T) c.2342G>T (p.Arg781Met) c.2522G>T (p.Arg841Met) c.2189G>T (p.Arg730Met) | |
7 | g.117592600G>A | CA457448963 | CFTR | c.2433G>A (p.Arg811=) c.*2147G>A (n.*2147G>A) c.2250G>A (p.Arg750=) c.*733G>A (n.*733G>A) c.*2257G>A (n.*2257G>A) c.2007G>A (p.Arg669=) c.24G>A (p.Arg8=) c.83G>A c.1402-10226G>A (n.1402-10226G>A) c.2343G>A (p.Arg781=) c.2523G>A (p.Arg841=) c.2190G>A (p.Arg730=) | |
7 | g.117592600G>C | CA368981269 | CFTR | c.2433G>C (p.Arg811Ser) c.*2147G>C (n.*2147G>C) c.2250G>C (p.Arg750Ser) c.*733G>C (n.*733G>C) c.*2257G>C (n.*2257G>C) c.2007G>C (p.Arg669Ser) c.24G>C (p.Arg8Ser) c.83G>C c.1402-10226G>C (n.1402-10226G>C) c.2343G>C (p.Arg781Ser) c.2523G>C (p.Arg841Ser) c.2190G>C (p.Arg730Ser) | |
7 | g.117592600G= | CA1737395626 | CFTR | c.2433G= (p.Arg811=) c.*2147G= (n.*2147G=) c.2250G= (p.Arg750=) c.*733G= (n.*733G=) c.*2257G= (n.*2257G=) c.2007G= (p.Arg669=) c.24G= (p.Arg8=) c.83G= c.1402-10226G= (n.1402-10226G=) c.2343G= (p.Arg781=) c.2523G= (p.Arg841=) c.2190G= (p.Arg730=) | |
7 | g.117592600G>T | CA4451182 | CFTR | c.2433G>T (p.Arg811Ser) c.*2147G>T (n.*2147G>T) c.2250G>T (p.Arg750Ser) c.*733G>T (n.*733G>T) c.*2257G>T (n.*2257G>T) c.2007G>T (p.Arg669Ser) c.24G>T (p.Arg8Ser) c.83G>T c.1402-10226G>T (n.1402-10226G>T) c.2343G>T (p.Arg781Ser) c.2523G>T (p.Arg841Ser) c.2190G>T (p.Arg730Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.117592601T>A | CA368981274 | CFTR | c.2434T>A (p.Leu812Ile) c.*2148T>A (n.*2148T>A) c.2251T>A (p.Leu751Ile) c.*734T>A (n.*734T>A) c.*2258T>A (n.*2258T>A) c.2008T>A (p.Leu670Ile) c.25T>A (p.Leu9Ile) c.84T>A c.1402-10225T>A (n.1402-10225T>A) c.2344T>A (p.Leu782Ile) c.2524T>A (p.Leu842Ile) c.2191T>A (p.Leu731Ile) | ClinVar |
7 | g.117592601T>C | CA457448964 | CFTR | c.2434T>C (p.Leu812=) c.*2148T>C (n.*2148T>C) c.2251T>C (p.Leu751=) c.*734T>C (n.*734T>C) c.*2258T>C (n.*2258T>C) c.2008T>C (p.Leu670=) c.25T>C (p.Leu9=) c.84T>C c.1402-10225T>C (n.1402-10225T>C) c.2344T>C (p.Leu782=) c.2524T>C (p.Leu842=) c.2191T>C (p.Leu731=) | ClinVar dbSNP gnomAD v4 |
7 | g.117592601T>G | CA368981276 | CFTR | c.2434T>G (p.Leu812Val) c.*2148T>G (n.*2148T>G) c.2251T>G (p.Leu751Val) c.*734T>G (n.*734T>G) c.*2258T>G (n.*2258T>G) c.2008T>G (p.Leu670Val) c.25T>G (p.Leu9Val) c.84T>G c.1402-10225T>G (n.1402-10225T>G) c.2344T>G (p.Leu782Val) c.2524T>G (p.Leu842Val) c.2191T>G (p.Leu731Val) | |
7 | g.117592601T= | CA1737395632 | CFTR | c.2434T= (p.Leu812=) c.*2148T= (n.*2148T=) c.2251T= (p.Leu751=) c.*734T= (n.*734T=) c.*2258T= (n.*2258T=) c.2008T= (p.Leu670=) c.25T= (p.Leu9=) c.84T= c.1402-10225T= (n.1402-10225T=) c.2344T= (p.Leu782=) c.2524T= (p.Leu842=) c.2191T= (p.Leu731=) | |
7 | g.117592602dup | CA326817 | CFTR | c.2435dup (p.Leu812PhefsTer11) c.*2149dup (n.*2149dup) c.2252dup (p.Leu751PhefsTer11) c.*735dup (n.*735dup) c.*2259dup (n.*2259dup) c.2009dup (p.Leu670PhefsTer11) c.26dup (p.Leu9PhefsTer11) c.85dup c.1402-10224dup (n.1402-10224dup) c.2345dup (p.Leu782PhefsTer11) c.2525dup (p.Leu842PhefsTer11) c.2192dup (p.Leu731PhefsTer11) | ClinVar dbSNP |
7 | g.117592601_117592602dup | CA2695208522 | CFTR | c.2434_2435dup (p.Leu812PhefsTer10) c.*2148_*2149dup (n.*2148_*2149dup) c.2251_2252dup (p.Leu751PhefsTer10) c.*734_*735dup (n.*734_*735dup) c.*2258_*2259dup (n.*2258_*2259dup) c.2008_2009dup (p.Leu670PhefsTer10) c.25_26dup (p.Leu9PhefsTer10) c.84_85dup c.1402-10225_1402-10224dup (n.1402-10225_1402-10224dup) c.2344_2345dup (p.Leu782PhefsTer10) c.2524_2525dup (p.Leu842PhefsTer10) c.2191_2192dup (p.Leu731PhefsTer10) | |
7 | g.117592602T>A | CA368981280 | CFTR | c.2435T>A (p.Leu812Ter) c.*2149T>A (n.*2149T>A) c.2252T>A (p.Leu751Ter) c.*735T>A (n.*735T>A) c.*2259T>A (n.*2259T>A) c.2009T>A (p.Leu670Ter) c.26T>A (p.Leu9Ter) c.85T>A c.1402-10224T>A (n.1402-10224T>A) c.2345T>A (p.Leu782Ter) c.2525T>A (p.Leu842Ter) c.2192T>A (p.Leu731Ter) | |
7 | g.117592602T>C | CA368981283 | CFTR | c.2435T>C (p.Leu812Ser) c.*2149T>C (n.*2149T>C) c.2252T>C (p.Leu751Ser) c.*735T>C (n.*735T>C) c.*2259T>C (n.*2259T>C) c.2009T>C (p.Leu670Ser) c.26T>C (p.Leu9Ser) c.85T>C c.1402-10224T>C (n.1402-10224T>C) c.2345T>C (p.Leu782Ser) c.2525T>C (p.Leu842Ser) c.2192T>C (p.Leu731Ser) | |
7 | g.117592602T>G | CA368981285 | CFTR | c.2435T>G (p.Leu812Ter) c.*2149T>G (n.*2149T>G) c.2252T>G (p.Leu751Ter) c.*735T>G (n.*735T>G) c.*2259T>G (n.*2259T>G) c.2009T>G (p.Leu670Ter) c.26T>G (p.Leu9Ter) c.85T>G c.1402-10224T>G (n.1402-10224T>G) c.2345T>G (p.Leu782Ter) c.2525T>G (p.Leu842Ter) c.2192T>G (p.Leu731Ter) | |
7 | g.117592603A>C | CA368981290 | CFTR | c.2436A>C (p.Leu812Phe) c.*2150A>C (n.*2150A>C) c.2253A>C (p.Leu751Phe) c.*736A>C (n.*736A>C) c.*2260A>C (n.*2260A>C) c.2010A>C (p.Leu670Phe) c.27A>C (p.Leu9Phe) c.86A>C c.1402-10223A>C (n.1402-10223A>C) c.2346A>C (p.Leu782Phe) c.2526A>C (p.Leu842Phe) c.2193A>C (p.Leu731Phe) | |
7 | g.117592603A>G | CA457448965 | CFTR | c.2436A>G (p.Leu812=) c.*2150A>G (n.*2150A>G) c.2253A>G (p.Leu751=) c.*736A>G (n.*736A>G) c.*2260A>G (n.*2260A>G) c.2010A>G (p.Leu670=) c.27A>G (p.Leu9=) c.86A>G c.1402-10223A>G (n.1402-10223A>G) c.2346A>G (p.Leu782=) c.2526A>G (p.Leu842=) c.2193A>G (p.Leu731=) | ClinVar gnomAD v4 |
7 | g.117592603A>T | CA368981292 | CFTR | c.2436A>T (p.Leu812Phe) c.*2150A>T (n.*2150A>T) c.2253A>T (p.Leu751Phe) c.*736A>T (n.*736A>T) c.*2260A>T (n.*2260A>T) c.2010A>T (p.Leu670Phe) c.27A>T (p.Leu9Phe) c.86A>T c.1402-10223A>T (n.1402-10223A>T) c.2346A>T (p.Leu782Phe) c.2526A>T (p.Leu842Phe) c.2193A>T (p.Leu731Phe) | gnomAD v4 COSMIC |
7 | g.117592604T>A | CA368981297 | CFTR | c.2437T>A (p.Ser813Thr) c.*2151T>A (n.*2151T>A) c.2254T>A (p.Ser752Thr) c.*737T>A (n.*737T>A) c.*2261T>A (n.*2261T>A) c.2011T>A (p.Ser671Thr) c.28T>A (p.Ser10Thr) c.87T>A c.1402-10222T>A (n.1402-10222T>A) c.2347T>A (p.Ser783Thr) c.2527T>A (p.Ser843Thr) c.2194T>A (p.Ser732Thr) | |
7 | g.117592604T>C | CA368981298 | CFTR | c.2437T>C (p.Ser813Pro) c.*2151T>C (n.*2151T>C) c.2254T>C (p.Ser752Pro) c.*737T>C (n.*737T>C) c.*2261T>C (n.*2261T>C) c.2011T>C (p.Ser671Pro) c.28T>C (p.Ser10Pro) c.87T>C c.1402-10222T>C (n.1402-10222T>C) c.2347T>C (p.Ser783Pro) c.2527T>C (p.Ser843Pro) c.2194T>C (p.Ser732Pro) | ClinVar dbSNP |
7 | g.117592604T>G | CA368981301 | CFTR | c.2437T>G (p.Ser813Ala) c.*2151T>G (n.*2151T>G) c.2254T>G (p.Ser752Ala) c.*737T>G (n.*737T>G) c.*2261T>G (n.*2261T>G) c.2011T>G (p.Ser671Ala) c.28T>G (p.Ser10Ala) c.87T>G c.1402-10222T>G (n.1402-10222T>G) c.2347T>G (p.Ser783Ala) c.2527T>G (p.Ser843Ala) c.2194T>G (p.Ser732Ala) | |
7 | g.117592604T= | CA1737395635 | CFTR | c.2437T= (p.Ser813=) c.*2151T= (n.*2151T=) c.2254T= (p.Ser752=) c.*737T= (n.*737T=) c.*2261T= (n.*2261T=) c.2011T= (p.Ser671=) c.28T= (p.Ser10=) c.87T= c.1402-10222T= (n.1402-10222T=) c.2347T= (p.Ser783=) c.2527T= (p.Ser843=) c.2194T= (p.Ser732=) | |
7 | g.117592605del | CA2697557578 | CFTR | c.2438del (p.Ser813PhefsTer8) c.*2152del (n.*2152del) c.2255del (p.Ser752PhefsTer8) c.*738del (n.*738del) c.*2262del (n.*2262del) c.2012del (p.Ser671PhefsTer8) c.29del (p.Ser10PhefsTer8) c.88del c.1402-10221del (n.1402-10221del) c.2348del (p.Ser783PhefsTer8) c.2528del (p.Ser843PhefsTer8) c.2195del (p.Ser732PhefsTer8) | ClinVar |
7 | g.117592605C>A | CA368981304 | CFTR | c.2438C>A (p.Ser813Tyr) c.*2152C>A (n.*2152C>A) c.2255C>A (p.Ser752Tyr) c.*738C>A (n.*738C>A) c.*2262C>A (n.*2262C>A) c.2012C>A (p.Ser671Tyr) c.29C>A (p.Ser10Tyr) c.88C>A c.1402-10221C>A (n.1402-10221C>A) c.2348C>A (p.Ser783Tyr) c.2528C>A (p.Ser843Tyr) c.2195C>A (p.Ser732Tyr) | gnomAD v4 |
7 | g.117592605C>G | CA368981307 | CFTR | c.2438C>G (p.Ser813Cys) c.*2152C>G (n.*2152C>G) c.2255C>G (p.Ser752Cys) c.*738C>G (n.*738C>G) c.*2262C>G (n.*2262C>G) c.2012C>G (p.Ser671Cys) c.29C>G (p.Ser10Cys) c.88C>G c.1402-10221C>G (n.1402-10221C>G) c.2348C>G (p.Ser783Cys) c.2528C>G (p.Ser843Cys) c.2195C>G (p.Ser732Cys) | |
7 | g.117592605C>T | CA368981309 | CFTR | c.2438C>T (p.Ser813Phe) c.*2152C>T (n.*2152C>T) c.2255C>T (p.Ser752Phe) c.*738C>T (n.*738C>T) c.*2262C>T (n.*2262C>T) c.2012C>T (p.Ser671Phe) c.29C>T (p.Ser10Phe) c.88C>T c.1402-10221C>T (n.1402-10221C>T) c.2348C>T (p.Ser783Phe) c.2528C>T (p.Ser843Phe) c.2195C>T (p.Ser732Phe) | gnomAD v4 |