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.117592414_117592422delinsGCCTCGCAT | CA1737395083 | CFTR | c.2247_2255delinsGCCTCGCAT (p.Leu749=) c.*1961_*1969delinsGCCTCGCAT (n.*1961_*1969delinsGCCTCGCAT) c.2064_2072delinsGCCTCGCAT (p.Leu688=) c.*547_*555delinsGCCTCGCAT (n.*547_*555delinsGCCTCGCAT) c.*2071_*2079delinsGCCTCGCAT (n.*2071_*2079delinsGCCTCGCAT) c.1821_1829delinsGCCTCGCAT (p.Leu607=) c.1402-10412_1402-10404delinsGCCTCGCAT (n.1402-10412_1402-10404delinsGCCTCGCAT) c.2157_2165delinsGCCTCGCAT (p.Leu719=) c.2337_2345delinsGCCTCGCAT (p.Leu779=) c.2004_2012delinsGCCTCGCAT (p.Leu668=) | |
7 | g.117592416_117592423del | CA326775 | CFTR | c.2249_2256del (p.Pro750GlnfsTer26) c.*1963_*1970del (n.*1963_*1970del) c.2066_2073del (p.Pro689GlnfsTer26) c.*549_*556del (n.*549_*556del) c.*2073_*2080del (n.*2073_*2080del) c.1823_1830del (p.Pro608GlnfsTer26) c.1402-10410_1402-10403del (n.1402-10410_1402-10403del) c.2159_2166del (p.Pro720GlnfsTer26) c.2339_2346del (p.Pro780GlnfsTer26) c.2006_2013del (p.Pro669GlnfsTer26) | ClinVar dbSNP |
7 | g.117592420C>A | CA457449558 | CFTR | c.2253C>A (p.Arg751=) c.*1967C>A (n.*1967C>A) c.2070C>A (p.Arg690=) c.*553C>A (n.*553C>A) c.*2077C>A (n.*2077C>A) c.1827C>A (p.Arg609=) c.1402-10406C>A (n.1402-10406C>A) c.2163C>A (p.Arg721=) c.2343C>A (p.Arg781=) c.2010C>A (p.Arg670=) | |
7 | g.117592420C= | CA1737395110 | CFTR | c.2253C= (p.Arg751=) c.*1967C= (n.*1967C=) c.2070C= (p.Arg690=) c.*553C= (n.*553C=) c.*2077C= (n.*2077C=) c.1827C= (p.Arg609=) c.1402-10406C= (n.1402-10406C=) c.2163C= (p.Arg721=) c.2343C= (p.Arg781=) c.2010C= (p.Arg670=) | |
7 | g.117592420C>G | CA457449559 | CFTR | c.2253C>G (p.Arg751=) c.*1967C>G (n.*1967C>G) c.2070C>G (p.Arg690=) c.*553C>G (n.*553C>G) c.*2077C>G (n.*2077C>G) c.1827C>G (p.Arg609=) c.1402-10406C>G (n.1402-10406C>G) c.2163C>G (p.Arg721=) c.2343C>G (p.Arg781=) c.2010C>G (p.Arg670=) | |
7 | g.117592420C>T | CA4451161 | CFTR | c.2253C>T (p.Arg751=) c.*1967C>T (n.*1967C>T) c.2070C>T (p.Arg690=) c.*553C>T (n.*553C>T) c.*2077C>T (n.*2077C>T) c.1827C>T (p.Arg609=) c.1402-10406C>T (n.1402-10406C>T) c.2163C>T (p.Arg721=) c.2343C>T (p.Arg781=) c.2010C>T (p.Arg670=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117592421A>C | CA368980659 | CFTR | c.2254A>C (p.Ile752Leu) c.*1968A>C (n.*1968A>C) c.2071A>C (p.Ile691Leu) c.*554A>C (n.*554A>C) c.*2078A>C (n.*2078A>C) c.1828A>C (p.Ile610Leu) c.1402-10405A>C (n.1402-10405A>C) c.2164A>C (p.Ile722Leu) c.2344A>C (p.Ile782Leu) c.2011A>C (p.Ile671Leu) | ClinVar gnomAD v4 |
7 | g.117592421A>G | CA368980653 | CFTR | c.2254A>G (p.Ile752Val) c.*1968A>G (n.*1968A>G) c.2071A>G (p.Ile691Val) c.*554A>G (n.*554A>G) c.*2078A>G (n.*2078A>G) c.1828A>G (p.Ile610Val) c.1402-10405A>G (n.1402-10405A>G) c.2164A>G (p.Ile722Val) c.2344A>G (p.Ile782Val) c.2011A>G (p.Ile671Val) | |
7 | g.117592421A>T | CA368980656 | CFTR | c.2254A>T (p.Ile752Phe) c.*1968A>T (n.*1968A>T) c.2071A>T (p.Ile691Phe) c.*554A>T (n.*554A>T) c.*2078A>T (n.*2078A>T) c.1828A>T (p.Ile610Phe) c.1402-10405A>T (n.1402-10405A>T) c.2164A>T (p.Ile722Phe) c.2344A>T (p.Ile782Phe) c.2011A>T (p.Ile671Phe) | ClinVar |
7 | g.117592422T>A | CA368980663 | CFTR | c.2255T>A (p.Ile752Asn) c.*1969T>A (n.*1969T>A) c.2072T>A (p.Ile691Asn) c.*555T>A (n.*555T>A) c.*2079T>A (n.*2079T>A) c.1829T>A (p.Ile610Asn) c.1402-10404T>A (n.1402-10404T>A) c.2165T>A (p.Ile722Asn) c.2345T>A (p.Ile782Asn) c.2012T>A (p.Ile671Asn) | |
7 | g.117592422T>C | CA368980666 | CFTR | c.2255T>C (p.Ile752Thr) c.*1969T>C (n.*1969T>C) c.2072T>C (p.Ile691Thr) c.*555T>C (n.*555T>C) c.*2079T>C (n.*2079T>C) c.1829T>C (p.Ile610Thr) c.1402-10404T>C (n.1402-10404T>C) c.2165T>C (p.Ile722Thr) c.2345T>C (p.Ile782Thr) c.2012T>C (p.Ile671Thr) | dbSNP |
7 | g.117592422T>G | CA4451162 | CFTR | c.2255T>G (p.Ile752Ser) c.*1969T>G (n.*1969T>G) c.2072T>G (p.Ile691Ser) c.*555T>G (n.*555T>G) c.*2079T>G (n.*2079T>G) c.1829T>G (p.Ile610Ser) c.1402-10404T>G (n.1402-10404T>G) c.2165T>G (p.Ile722Ser) c.2345T>G (p.Ile782Ser) c.2012T>G (p.Ile671Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117592422T= | CA1737395114 | CFTR | c.2255T= (p.Ile752=) c.*1969T= (n.*1969T=) c.2072T= (p.Ile691=) c.*555T= (n.*555T=) c.*2079T= (n.*2079T=) c.1829T= (p.Ile610=) c.1402-10404T= (n.1402-10404T=) c.2165T= (p.Ile722=) c.2345T= (p.Ile782=) c.2012T= (p.Ile671=) | |
7 | g.117592423C>A | CA457449566 | CFTR | c.2256C>A (p.Ile752=) c.*1970C>A (n.*1970C>A) c.2073C>A (p.Ile691=) c.*556C>A (n.*556C>A) c.*2080C>A (n.*2080C>A) c.1830C>A (p.Ile610=) c.1402-10403C>A (n.1402-10403C>A) c.2166C>A (p.Ile722=) c.2346C>A (p.Ile782=) c.2013C>A (p.Ile671=) | gnomAD v4 |
7 | g.117592423C>G | CA368980670 | CFTR | c.2256C>G (p.Ile752Met) c.*1970C>G (n.*1970C>G) c.2073C>G (p.Ile691Met) c.*556C>G (n.*556C>G) c.*2080C>G (n.*2080C>G) c.1830C>G (p.Ile610Met) c.1402-10403C>G (n.1402-10403C>G) c.2166C>G (p.Ile722Met) c.2346C>G (p.Ile782Met) c.2013C>G (p.Ile671Met) | |
7 | g.117592423C>T | CA457449569 | CFTR | c.2256C>T (p.Ile752=) c.*1970C>T (n.*1970C>T) c.2073C>T (p.Ile691=) c.*556C>T (n.*556C>T) c.*2080C>T (n.*2080C>T) c.1830C>T (p.Ile610=) c.1402-10403C>T (n.1402-10403C>T) c.2166C>T (p.Ile722=) c.2346C>T (p.Ile782=) c.2013C>T (p.Ile671=) | |
7 | g.117592424A= | CA1737395123 | CFTR | c.2257A= (p.Ser753=) c.*1971A= (n.*1971A=) c.2074A= (p.Ser692=) c.*557A= (n.*557A=) c.*2081A= (n.*2081A=) c.1831A= (p.Ser611=) c.1402-10402A= (n.1402-10402A=) c.2167A= (p.Ser723=) c.2347A= (p.Ser783=) c.2014A= (p.Ser672=) | |
7 | g.117592424A>C | CA368980673 | CFTR | c.2257A>C (p.Ser753Arg) c.*1971A>C (n.*1971A>C) c.2074A>C (p.Ser692Arg) c.*557A>C (n.*557A>C) c.*2081A>C (n.*2081A>C) c.1831A>C (p.Ser611Arg) c.1402-10402A>C (n.1402-10402A>C) c.2167A>C (p.Ser723Arg) c.2347A>C (p.Ser783Arg) c.2014A>C (p.Ser672Arg) | |
7 | g.117592424A>G | CA368980675 | CFTR | c.2257A>G (p.Ser753Gly) c.*1971A>G (n.*1971A>G) c.2074A>G (p.Ser692Gly) c.*557A>G (n.*557A>G) c.*2081A>G (n.*2081A>G) c.1831A>G (p.Ser611Gly) c.1402-10402A>G (n.1402-10402A>G) c.2167A>G (p.Ser723Gly) c.2347A>G (p.Ser783Gly) c.2014A>G (p.Ser672Gly) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.117592424A>T | CA368980676 | CFTR | c.2257A>T (p.Ser753Cys) c.*1971A>T (n.*1971A>T) c.2074A>T (p.Ser692Cys) c.*557A>T (n.*557A>T) c.*2081A>T (n.*2081A>T) c.1831A>T (p.Ser611Cys) c.1402-10402A>T (n.1402-10402A>T) c.2167A>T (p.Ser723Cys) c.2347A>T (p.Ser783Cys) c.2014A>T (p.Ser672Cys) | |
7 | g.117592425G>A | CA4451163 | CFTR | c.2258G>A (p.Ser753Asn) c.*1972G>A (n.*1972G>A) c.2075G>A (p.Ser692Asn) c.*558G>A (n.*558G>A) c.*2082G>A (n.*2082G>A) c.1832G>A (p.Ser611Asn) c.1402-10401G>A (n.1402-10401G>A) c.2168G>A (p.Ser723Asn) c.2348G>A (p.Ser783Asn) c.2015G>A (p.Ser672Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.117592425G>C | CA368980681 | CFTR | c.2258G>C (p.Ser753Thr) c.*1972G>C (n.*1972G>C) c.2075G>C (p.Ser692Thr) c.*558G>C (n.*558G>C) c.*2082G>C (n.*2082G>C) c.1832G>C (p.Ser611Thr) c.1402-10401G>C (n.1402-10401G>C) c.2168G>C (p.Ser723Thr) c.2348G>C (p.Ser783Thr) c.2015G>C (p.Ser672Thr) | gnomAD v4 |
7 | g.117592425G= | CA1737395126 | CFTR | c.2258G= (p.Ser753=) c.*1972G= (n.*1972G=) c.2075G= (p.Ser692=) c.*558G= (n.*558G=) c.*2082G= (n.*2082G=) c.1832G= (p.Ser611=) c.1402-10401G= (n.1402-10401G=) c.2168G= (p.Ser723=) c.2348G= (p.Ser783=) c.2015G= (p.Ser672=) | |
7 | g.117592425G>T | CA368980683 | CFTR | c.2258G>T (p.Ser753Ile) c.*1972G>T (n.*1972G>T) c.2075G>T (p.Ser692Ile) c.*558G>T (n.*558G>T) c.*2082G>T (n.*2082G>T) c.1832G>T (p.Ser611Ile) c.1402-10401G>T (n.1402-10401G>T) c.2168G>T (p.Ser723Ile) c.2348G>T (p.Ser783Ile) c.2015G>T (p.Ser672Ile) | |
7 | g.117592426C>A | CA368980689 | CFTR | c.2259C>A (p.Ser753Arg) c.*1973C>A (n.*1973C>A) c.2076C>A (p.Ser692Arg) c.*559C>A (n.*559C>A) c.*2083C>A (n.*2083C>A) c.1833C>A (p.Ser611Arg) c.1402-10400C>A (n.1402-10400C>A) c.2169C>A (p.Ser723Arg) c.2349C>A (p.Ser783Arg) c.2016C>A (p.Ser672Arg) | |
7 | g.117592426C= | CA1737395133 | CFTR | c.2259C= (p.Ser753=) c.*1973C= (n.*1973C=) c.2076C= (p.Ser692=) c.*559C= (n.*559C=) c.*2083C= (n.*2083C=) c.1833C= (p.Ser611=) c.1402-10400C= (n.1402-10400C=) c.2169C= (p.Ser723=) c.2349C= (p.Ser783=) c.2016C= (p.Ser672=) | |
7 | g.117592426C>G | CA326780 | CFTR | c.2259C>G (p.Ser753Arg) c.*1973C>G (n.*1973C>G) c.2076C>G (p.Ser692Arg) c.*559C>G (n.*559C>G) c.*2083C>G (n.*2083C>G) c.1833C>G (p.Ser611Arg) c.1402-10400C>G (n.1402-10400C>G) c.2169C>G (p.Ser723Arg) c.2349C>G (p.Ser783Arg) c.2016C>G (p.Ser672Arg) | ClinVar dbSNP |
7 | g.117592426C>T | CA326782 | CFTR | c.2259C>T (p.Ser753=) c.*1973C>T (n.*1973C>T) c.2076C>T (p.Ser692=) c.*559C>T (n.*559C>T) c.*2083C>T (n.*2083C>T) c.1833C>T (p.Ser611=) c.1402-10400C>T (n.1402-10400C>T) c.2169C>T (p.Ser723=) c.2349C>T (p.Ser783=) c.2016C>T (p.Ser672=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
7 | g.117592427G>A | CA326784 | CFTR | c.2260G>A (p.Val754Met) c.*1974G>A (n.*1974G>A) c.2077G>A (p.Val693Met) c.*560G>A (n.*560G>A) c.*2084G>A (n.*2084G>A) c.1834G>A (p.Val612Met) c.1402-10399G>A (n.1402-10399G>A) c.2170G>A (p.Val724Met) c.2350G>A (p.Val784Met) c.2017G>A (p.Val673Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117592427G>C | CA368980697 | CFTR | c.2260G>C (p.Val754Leu) c.*1974G>C (n.*1974G>C) c.2077G>C (p.Val693Leu) c.*560G>C (n.*560G>C) c.*2084G>C (n.*2084G>C) c.1834G>C (p.Val612Leu) c.1402-10399G>C (n.1402-10399G>C) c.2170G>C (p.Val724Leu) c.2350G>C (p.Val784Leu) c.2017G>C (p.Val673Leu) | |
7 | g.117592427G= | CA1737395143 | CFTR | c.2260G= (p.Val754=) c.*1974G= (n.*1974G=) c.2077G= (p.Val693=) c.*560G= (n.*560G=) c.*2084G= (n.*2084G=) c.1834G= (p.Val612=) c.1402-10399G= (n.1402-10399G=) c.2170G= (p.Val724=) c.2350G= (p.Val784=) c.2017G= (p.Val673=) | |
7 | g.117592427G>T | CA368980696 | CFTR | c.2260G>T (p.Val754Leu) c.*1974G>T (n.*1974G>T) c.2077G>T (p.Val693Leu) c.*560G>T (n.*560G>T) c.*2084G>T (n.*2084G>T) c.1834G>T (p.Val612Leu) c.1402-10399G>T (n.1402-10399G>T) c.2170G>T (p.Val724Leu) c.2350G>T (p.Val784Leu) c.2017G>T (p.Val673Leu) | dbSNP |
7 | g.117592428del | CA2573141691 | CFTR | c.2261del (p.Val754GlyfsTer17) c.*1975del (n.*1975del) c.2078del (p.Val693GlyfsTer17) c.*561del (n.*561del) c.*2085del (n.*2085del) c.1835del (p.Val612GlyfsTer17) c.1402-10398del (n.1402-10398del) c.2171del (p.Val724GlyfsTer17) c.2351del (p.Val784GlyfsTer17) c.2018del (p.Val673GlyfsTer17) | ClinVar dbSNP |
7 | g.117592428T>A | CA368980701 | CFTR | c.2261T>A (p.Val754Glu) c.*1975T>A (n.*1975T>A) c.2078T>A (p.Val693Glu) c.*561T>A (n.*561T>A) c.*2085T>A (n.*2085T>A) c.1835T>A (p.Val612Glu) c.1402-10398T>A (n.1402-10398T>A) c.2171T>A (p.Val724Glu) c.2351T>A (p.Val784Glu) c.2018T>A (p.Val673Glu) | |
7 | g.117592428T>C | CA368980703 | CFTR | c.2261T>C (p.Val754Ala) c.*1975T>C (n.*1975T>C) c.2078T>C (p.Val693Ala) c.*561T>C (n.*561T>C) c.*2085T>C (n.*2085T>C) c.1835T>C (p.Val612Ala) c.1402-10398T>C (n.1402-10398T>C) c.2171T>C (p.Val724Ala) c.2351T>C (p.Val784Ala) c.2018T>C (p.Val673Ala) | |
7 | g.117592428T>G | CA368980705 | CFTR | c.2261T>G (p.Val754Gly) c.*1975T>G (n.*1975T>G) c.2078T>G (p.Val693Gly) c.*561T>G (n.*561T>G) c.*2085T>G (n.*2085T>G) c.1835T>G (p.Val612Gly) c.1402-10398T>G (n.1402-10398T>G) c.2171T>G (p.Val724Gly) c.2351T>G (p.Val784Gly) c.2018T>G (p.Val673Gly) | |
7 | g.117592429G>A | CA457449578 | CFTR | c.2262G>A (p.Val754=) c.*1976G>A (n.*1976G>A) c.2079G>A (p.Val693=) c.*562G>A (n.*562G>A) c.*2086G>A (n.*2086G>A) c.1836G>A (p.Val612=) c.1402-10397G>A (n.1402-10397G>A) c.2172G>A (p.Val724=) c.2352G>A (p.Val784=) c.2019G>A (p.Val673=) | COSMIC |
7 | g.117592429G>C | CA457449574 | CFTR | c.2262G>C (p.Val754=) c.*1976G>C (n.*1976G>C) c.2079G>C (p.Val693=) c.*562G>C (n.*562G>C) c.*2086G>C (n.*2086G>C) c.1836G>C (p.Val612=) c.1402-10397G>C (n.1402-10397G>C) c.2172G>C (p.Val724=) c.2352G>C (p.Val784=) c.2019G>C (p.Val673=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117592429G= | CA1737395150 | CFTR | c.2262G= (p.Val754=) c.*1976G= (n.*1976G=) c.2079G= (p.Val693=) c.*562G= (n.*562G=) c.*2086G= (n.*2086G=) c.1836G= (p.Val612=) c.1402-10397G= (n.1402-10397G=) c.2172G= (p.Val724=) c.2352G= (p.Val784=) c.2019G= (p.Val673=) | |
7 | g.117592429G>T | CA457449575 | CFTR | c.2262G>T (p.Val754=) c.*1976G>T (n.*1976G>T) c.2079G>T (p.Val693=) c.*562G>T (n.*562G>T) c.*2086G>T (n.*2086G>T) c.1836G>T (p.Val612=) c.1402-10397G>T (n.1402-10397G>T) c.2172G>T (p.Val724=) c.2352G>T (p.Val784=) c.2019G>T (p.Val673=) | ClinVar |
7 | g.117592430A= | CA1737395154 | CFTR | c.2263A= (p.Ile755=) c.*1977A= (n.*1977A=) c.2080A= (p.Ile694=) c.*563A= (n.*563A=) c.*2087A= (n.*2087A=) c.1837A= (p.Ile613=) c.1402-10396A= (n.1402-10396A=) c.2173A= (p.Ile725=) c.2353A= (p.Ile785=) c.2020A= (p.Ile674=) | |
7 | g.117592430A>C | CA368980710 | CFTR | c.2263A>C (p.Ile755Leu) c.*1977A>C (n.*1977A>C) c.2080A>C (p.Ile694Leu) c.*563A>C (n.*563A>C) c.*2087A>C (n.*2087A>C) c.1837A>C (p.Ile613Leu) c.1402-10396A>C (n.1402-10396A>C) c.2173A>C (p.Ile725Leu) c.2353A>C (p.Ile785Leu) c.2020A>C (p.Ile674Leu) | |
7 | g.117592430A>G | CA368980715 | CFTR | c.2263A>G (p.Ile755Val) c.*1977A>G (n.*1977A>G) c.2080A>G (p.Ile694Val) c.*563A>G (n.*563A>G) c.*2087A>G (n.*2087A>G) c.1837A>G (p.Ile613Val) c.1402-10396A>G (n.1402-10396A>G) c.2173A>G (p.Ile725Val) c.2353A>G (p.Ile785Val) c.2020A>G (p.Ile674Val) | |
7 | g.117592430A>T | CA4451164 | CFTR | c.2263A>T (p.Ile755Phe) c.*1977A>T (n.*1977A>T) c.2080A>T (p.Ile694Phe) c.*563A>T (n.*563A>T) c.*2087A>T (n.*2087A>T) c.1837A>T (p.Ile613Phe) c.1402-10396A>T (n.1402-10396A>T) c.2173A>T (p.Ile725Phe) c.2353A>T (p.Ile785Phe) c.2020A>T (p.Ile674Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.117592431T>A | CA368980718 | CFTR | c.2264T>A (p.Ile755Asn) c.*1978T>A (n.*1978T>A) c.2081T>A (p.Ile694Asn) c.*564T>A (n.*564T>A) c.*2088T>A (n.*2088T>A) c.1838T>A (p.Ile613Asn) c.1402-10395T>A (n.1402-10395T>A) c.2174T>A (p.Ile725Asn) c.2354T>A (p.Ile785Asn) c.2021T>A (p.Ile674Asn) | |
7 | g.117592431T>C | CA368980720 | CFTR | c.2264T>C (p.Ile755Thr) c.*1978T>C (n.*1978T>C) c.2081T>C (p.Ile694Thr) c.*564T>C (n.*564T>C) c.*2088T>C (n.*2088T>C) c.1838T>C (p.Ile613Thr) c.1402-10395T>C (n.1402-10395T>C) c.2174T>C (p.Ile725Thr) c.2354T>C (p.Ile785Thr) c.2021T>C (p.Ile674Thr) | |
7 | g.117592431T>G | CA368980723 | CFTR | c.2264T>G (p.Ile755Ser) c.*1978T>G (n.*1978T>G) c.2081T>G (p.Ile694Ser) c.*564T>G (n.*564T>G) c.*2088T>G (n.*2088T>G) c.1838T>G (p.Ile613Ser) c.1402-10395T>G (n.1402-10395T>G) c.2174T>G (p.Ile725Ser) c.2354T>G (p.Ile785Ser) c.2021T>G (p.Ile674Ser) | |
7 | g.117592432C>A | CA457449584 | CFTR | c.2265C>A (p.Ile755=) c.*1979C>A (n.*1979C>A) c.2082C>A (p.Ile694=) c.*565C>A (n.*565C>A) c.*2089C>A (n.*2089C>A) c.1839C>A (p.Ile613=) c.1402-10394C>A (n.1402-10394C>A) c.2175C>A (p.Ile725=) c.2355C>A (p.Ile785=) c.2022C>A (p.Ile674=) | |
7 | g.117592432C>G | CA368980725 | CFTR | c.2265C>G (p.Ile755Met) c.*1979C>G (n.*1979C>G) c.2082C>G (p.Ile694Met) c.*565C>G (n.*565C>G) c.*2089C>G (n.*2089C>G) c.1839C>G (p.Ile613Met) c.1402-10394C>G (n.1402-10394C>G) c.2175C>G (p.Ile725Met) c.2355C>G (p.Ile785Met) c.2022C>G (p.Ile674Met) |