| 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.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.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.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) |