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.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) | |
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) | |
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=) |