| 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.117592630_117592631del | CA276108 | CFTR | c.2463_2464del (p.Ser821ArgfsTer4) c.*2177_*2178del (n.*2177_*2178del) c.2280_2281del (p.Ser760ArgfsTer4) c.*763_*764del (n.*763_*764del) c.*2287_*2288del (n.*2287_*2288del) c.2037_2038del (p.Ser679ArgfsTer4) c.54_55del (p.Ser18ArgfsTer4) c.113_114del c.1402-10196_1402-10195del (n.1402-10196_1402-10195del) c.2373_2374del (p.Ser791ArgfsTer4) c.2553_2554del (p.Ser851ArgfsTer4) c.2220_2221del (p.Ser740ArgfsTer4) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117592631G>A | CA326820 | CFTR | c.2464G>A (p.Glu822Lys) c.*2178G>A (n.*2178G>A) c.2281G>A (p.Glu761Lys) c.*764G>A (n.*764G>A) c.*2288G>A (n.*2288G>A) c.2038G>A (p.Glu680Lys) c.55G>A (p.Glu19Lys) c.114G>A c.1402-10195G>A (n.1402-10195G>A) c.2374G>A (p.Glu792Lys) c.2554G>A (p.Glu852Lys) c.2221G>A (p.Glu741Lys) | ClinVar dbSNP gnomAD v4 COSMIC |
| 7 | g.117592631G>C | CA368981487 | CFTR | c.2464G>C (p.Glu822Gln) c.*2178G>C (n.*2178G>C) c.2281G>C (p.Glu761Gln) c.*764G>C (n.*764G>C) c.*2288G>C (n.*2288G>C) c.2038G>C (p.Glu680Gln) c.55G>C (p.Glu19Gln) c.114G>C c.1402-10195G>C (n.1402-10195G>C) c.2374G>C (p.Glu792Gln) c.2554G>C (p.Glu852Gln) c.2221G>C (p.Glu741Gln) | |
| 7 | g.117592631G= | CA1737395716 | CFTR | c.2464G= (p.Glu822=) c.*2178G= (n.*2178G=) c.2281G= (p.Glu761=) c.*764G= (n.*764G=) c.*2288G= (n.*2288G=) c.2038G= (p.Glu680=) c.55G= (p.Glu19=) c.114G= c.1402-10195G= (n.1402-10195G=) c.2374G= (p.Glu792=) c.2554G= (p.Glu852=) c.2221G= (p.Glu741=) | |
| 7 | g.117592631G>T | CA328102 | CFTR | c.2464G>T (p.Glu822Ter) c.*2178G>T (n.*2178G>T) c.2281G>T (p.Glu761Ter) c.*764G>T (n.*764G>T) c.*2288G>T (n.*2288G>T) c.2038G>T (p.Glu680Ter) c.55G>T (p.Glu19Ter) c.114G>T c.1402-10195G>T (n.1402-10195G>T) c.2374G>T (p.Glu792Ter) c.2554G>T (p.Glu852Ter) c.2221G>T (p.Glu741Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117592634_117592636del | CA2684619365 | CFTR | c.2467_2469del (p.Glu823del) c.*2181_*2183del (n.*2181_*2183del) c.2284_2286del (p.Glu762del) c.*767_*769del (n.*767_*769del) c.*2291_*2293del (n.*2291_*2293del) c.2041_2043del (p.Glu681del) c.58_60del (p.Glu20del) c.117_119del c.1402-10192_1402-10190del (n.1402-10192_1402-10190del) c.2377_2379del (p.Glu793del) c.2557_2559del (p.Glu853del) c.2224_2226del (p.Glu742del) | gnomAD v4 |
| 7 | g.117592632A>C | CA368981493 | CFTR | c.2465A>C (p.Glu822Ala) c.*2179A>C (n.*2179A>C) c.2282A>C (p.Glu761Ala) c.*765A>C (n.*765A>C) c.*2289A>C (n.*2289A>C) c.2039A>C (p.Glu680Ala) c.56A>C (p.Glu19Ala) c.115A>C c.1402-10194A>C (n.1402-10194A>C) c.2375A>C (p.Glu792Ala) c.2555A>C (p.Glu852Ala) c.2222A>C (p.Glu741Ala) | |
| 7 | g.117592632A>G | CA368981499 | CFTR | c.2465A>G (p.Glu822Gly) c.*2179A>G (n.*2179A>G) c.2282A>G (p.Glu761Gly) c.*765A>G (n.*765A>G) c.*2289A>G (n.*2289A>G) c.2039A>G (p.Glu680Gly) c.56A>G (p.Glu19Gly) c.115A>G c.1402-10194A>G (n.1402-10194A>G) c.2375A>G (p.Glu792Gly) c.2555A>G (p.Glu852Gly) c.2222A>G (p.Glu741Gly) | |
| 7 | g.117592632A>T | CA368981495 | CFTR | c.2465A>T (p.Glu822Val) c.*2179A>T (n.*2179A>T) c.2282A>T (p.Glu761Val) c.*765A>T (n.*765A>T) c.*2289A>T (n.*2289A>T) c.2039A>T (p.Glu680Val) c.56A>T (p.Glu19Val) c.115A>T c.1402-10194A>T (n.1402-10194A>T) c.2375A>T (p.Glu792Val) c.2555A>T (p.Glu852Val) c.2222A>T (p.Glu741Val) | |
| 7 | g.117592633A>C | CA368981502 | CFTR | c.2466A>C (p.Glu822Asp) c.*2180A>C (n.*2180A>C) c.2283A>C (p.Glu761Asp) c.*766A>C (n.*766A>C) c.*2290A>C (n.*2290A>C) c.2040A>C (p.Glu680Asp) c.57A>C (p.Glu19Asp) c.116A>C c.1402-10193A>C (n.1402-10193A>C) c.2376A>C (p.Glu792Asp) c.2556A>C (p.Glu852Asp) c.2223A>C (p.Glu741Asp) | |
| 7 | g.117592633A>G | CA457448983 | CFTR | c.2466A>G (p.Glu822=) c.*2180A>G (n.*2180A>G) c.2283A>G (p.Glu761=) c.*766A>G (n.*766A>G) c.*2290A>G (n.*2290A>G) c.2040A>G (p.Glu680=) c.57A>G (p.Glu19=) c.116A>G c.1402-10193A>G (n.1402-10193A>G) c.2376A>G (p.Glu792=) c.2556A>G (p.Glu852=) c.2223A>G (p.Glu741=) | gnomAD v4 |
| 7 | g.117592633A>T | CA368981505 | CFTR | c.2466A>T (p.Glu822Asp) c.*2180A>T (n.*2180A>T) c.2283A>T (p.Glu761Asp) c.*766A>T (n.*766A>T) c.*2290A>T (n.*2290A>T) c.2040A>T (p.Glu680Asp) c.57A>T (p.Glu19Asp) c.116A>T c.1402-10193A>T (n.1402-10193A>T) c.2376A>T (p.Glu792Asp) c.2556A>T (p.Glu852Asp) c.2223A>T (p.Glu741Asp) | |
| 7 | g.117592634G>A | CA368981510 | CFTR | c.2467G>A (p.Glu823Lys) c.*2181G>A (n.*2181G>A) c.2284G>A (p.Glu762Lys) c.*767G>A (n.*767G>A) c.*2291G>A (n.*2291G>A) c.2041G>A (p.Glu681Lys) c.58G>A (p.Glu20Lys) c.117G>A c.1402-10192G>A (n.1402-10192G>A) c.2377G>A (p.Glu793Lys) c.2557G>A (p.Glu853Lys) c.2224G>A (p.Glu742Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117592634G>C | CA368981512 | CFTR | c.2467G>C (p.Glu823Gln) c.*2181G>C (n.*2181G>C) c.2284G>C (p.Glu762Gln) c.*767G>C (n.*767G>C) c.*2291G>C (n.*2291G>C) c.2041G>C (p.Glu681Gln) c.58G>C (p.Glu20Gln) c.117G>C c.1402-10192G>C (n.1402-10192G>C) c.2377G>C (p.Glu793Gln) c.2557G>C (p.Glu853Gln) c.2224G>C (p.Glu742Gln) | |
| 7 | g.117592634G= | CA1737395721 | CFTR | c.2467G= (p.Glu823=) c.*2181G= (n.*2181G=) c.2284G= (p.Glu762=) c.*767G= (n.*767G=) c.*2291G= (n.*2291G=) c.2041G= (p.Glu681=) c.58G= (p.Glu20=) c.117G= c.1402-10192G= (n.1402-10192G=) c.2377G= (p.Glu793=) c.2557G= (p.Glu853=) c.2224G= (p.Glu742=) | |
| 7 | g.117592634G>T | CA326821 | CFTR | c.2467G>T (p.Glu823Ter) c.*2181G>T (n.*2181G>T) c.2284G>T (p.Glu762Ter) c.*767G>T (n.*767G>T) c.*2291G>T (n.*2291G>T) c.2041G>T (p.Glu681Ter) c.58G>T (p.Glu20Ter) c.117G>T c.1402-10192G>T (n.1402-10192G>T) c.2377G>T (p.Glu793Ter) c.2557G>T (p.Glu853Ter) c.2224G>T (p.Glu742Ter) | ClinVar dbSNP gnomAD v4 COSMIC |
| 7 | g.117592635A>C | CA368981519 | CFTR | c.2468A>C (p.Glu823Ala) c.*2182A>C (n.*2182A>C) c.2285A>C (p.Glu762Ala) c.*768A>C (n.*768A>C) c.*2292A>C (n.*2292A>C) c.2042A>C (p.Glu681Ala) c.59A>C (p.Glu20Ala) c.118A>C c.1402-10191A>C (n.1402-10191A>C) c.2378A>C (p.Glu793Ala) c.2558A>C (p.Glu853Ala) c.2225A>C (p.Glu742Ala) | |
| 7 | g.117592635A>G | CA368981523 | CFTR | c.2468A>G (p.Glu823Gly) c.*2182A>G (n.*2182A>G) c.2285A>G (p.Glu762Gly) c.*768A>G (n.*768A>G) c.*2292A>G (n.*2292A>G) c.2042A>G (p.Glu681Gly) c.59A>G (p.Glu20Gly) c.118A>G c.1402-10191A>G (n.1402-10191A>G) c.2378A>G (p.Glu793Gly) c.2558A>G (p.Glu853Gly) c.2225A>G (p.Glu742Gly) | |
| 7 | g.117592635A>T | CA368981527 | CFTR | c.2468A>T (p.Glu823Val) c.*2182A>T (n.*2182A>T) c.2285A>T (p.Glu762Val) c.*768A>T (n.*768A>T) c.*2292A>T (n.*2292A>T) c.2042A>T (p.Glu681Val) c.59A>T (p.Glu20Val) c.118A>T c.1402-10191A>T (n.1402-10191A>T) c.2378A>T (p.Glu793Val) c.2558A>T (p.Glu853Val) c.2225A>T (p.Glu742Val) | |
| 7 | g.117592636A= | CA1737395724 | CFTR | c.2469A= (p.Glu823=) c.*2183A= (n.*2183A=) c.2286A= (p.Glu762=) c.*769A= (n.*769A=) c.*2293A= (n.*2293A=) c.2043A= (p.Glu681=) c.60A= (p.Glu20=) c.119A= c.1402-10190A= (n.1402-10190A=) c.2379A= (p.Glu793=) c.2559A= (p.Glu853=) c.2226A= (p.Glu742=) | |
| 7 | g.117592636A>C | CA368981532 | CFTR | c.2469A>C (p.Glu823Asp) c.*2183A>C (n.*2183A>C) c.2286A>C (p.Glu762Asp) c.*769A>C (n.*769A>C) c.*2293A>C (n.*2293A>C) c.2043A>C (p.Glu681Asp) c.60A>C (p.Glu20Asp) c.119A>C c.1402-10190A>C (n.1402-10190A>C) c.2379A>C (p.Glu793Asp) c.2559A>C (p.Glu853Asp) c.2226A>C (p.Glu742Asp) | |
| 7 | g.117592636A>G | CA457448984 | CFTR | c.2469A>G (p.Glu823=) c.*2183A>G (n.*2183A>G) c.2286A>G (p.Glu762=) c.*769A>G (n.*769A>G) c.*2293A>G (n.*2293A>G) c.2043A>G (p.Glu681=) c.60A>G (p.Glu20=) c.119A>G c.1402-10190A>G (n.1402-10190A>G) c.2379A>G (p.Glu793=) c.2559A>G (p.Glu853=) c.2226A>G (p.Glu742=) | |
| 7 | g.117592636A>T | CA4451185 | CFTR | c.2469A>T (p.Glu823Asp) c.*2183A>T (n.*2183A>T) c.2286A>T (p.Glu762Asp) c.*769A>T (n.*769A>T) c.*2293A>T (n.*2293A>T) c.2043A>T (p.Glu681Asp) c.60A>T (p.Glu20Asp) c.119A>T c.1402-10190A>T (n.1402-10190A>T) c.2379A>T (p.Glu793Asp) c.2559A>T (p.Glu853Asp) c.2226A>T (p.Glu742Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117592637A>C | CA368981540 | CFTR | c.2470A>C (p.Ile824Leu) c.*2184A>C (n.*2184A>C) c.2287A>C (p.Ile763Leu) c.*770A>C (n.*770A>C) c.*2294A>C (n.*2294A>C) c.2044A>C (p.Ile682Leu) c.61A>C (p.Ile21Leu) c.120A>C c.1402-10189A>C (n.1402-10189A>C) c.2380A>C (p.Ile794Leu) c.2560A>C (p.Ile854Leu) c.2227A>C (p.Ile743Leu) | |
| 7 | g.117592637A>G | CA368981543 | CFTR | c.2470A>G (p.Ile824Val) c.*2184A>G (n.*2184A>G) c.2287A>G (p.Ile763Val) c.*770A>G (n.*770A>G) c.*2294A>G (n.*2294A>G) c.2044A>G (p.Ile682Val) c.61A>G (p.Ile21Val) c.120A>G c.1402-10189A>G (n.1402-10189A>G) c.2380A>G (p.Ile794Val) c.2560A>G (p.Ile854Val) c.2227A>G (p.Ile743Val) | ClinVar gnomAD v4 |
| 7 | g.117592637A>T | CA368981552 | CFTR | c.2470A>T (p.Ile824Phe) c.*2184A>T (n.*2184A>T) c.2287A>T (p.Ile763Phe) c.*770A>T (n.*770A>T) c.*2294A>T (n.*2294A>T) c.2044A>T (p.Ile682Phe) c.61A>T (p.Ile21Phe) c.120A>T c.1402-10189A>T (n.1402-10189A>T) c.2380A>T (p.Ile794Phe) c.2560A>T (p.Ile854Phe) c.2227A>T (p.Ile743Phe) | |
| 7 | g.117592637_117592638delinsAT | CA1737395728 | CFTR | c.2470_2471delinsAT (p.Ile824=) c.*2184_*2185delinsAT (n.*2184_*2185delinsAT) c.2287_2288delinsAT (p.Ile763=) c.*770_*771delinsAT (n.*770_*771delinsAT) c.*2294_*2295delinsAT (n.*2294_*2295delinsAT) c.2044_2045delinsAT (p.Ile682=) c.61_62delinsAT (p.Ile21=) c.120_121delinsAT c.1402-10189_1402-10188delinsAT (n.1402-10189_1402-10188delinsAT) c.2380_2381delinsAT (p.Ile794=) c.2560_2561delinsAT (p.Ile854=) c.2227_2228delinsAT (p.Ile743=) | |
| 7 | g.117592638T>A | CA368981565 | CFTR | c.2471T>A (p.Ile824Asn) c.*2185T>A (n.*2185T>A) c.2288T>A (p.Ile763Asn) c.*771T>A (n.*771T>A) c.*2295T>A (n.*2295T>A) c.2045T>A (p.Ile682Asn) c.62T>A (p.Ile21Asn) c.121T>A c.1402-10188T>A (n.1402-10188T>A) c.2381T>A (p.Ile794Asn) c.2561T>A (p.Ile854Asn) c.2228T>A (p.Ile743Asn) | |
| 7 | g.117592638T>C | CA368981558 | CFTR | c.2471T>C (p.Ile824Thr) c.*2185T>C (n.*2185T>C) c.2288T>C (p.Ile763Thr) c.*771T>C (n.*771T>C) c.*2295T>C (n.*2295T>C) c.2045T>C (p.Ile682Thr) c.62T>C (p.Ile21Thr) c.121T>C c.1402-10188T>C (n.1402-10188T>C) c.2381T>C (p.Ile794Thr) c.2561T>C (p.Ile854Thr) c.2228T>C (p.Ile743Thr) | |
| 7 | g.117592638T>G | CA368981562 | CFTR | c.2471T>G (p.Ile824Ser) c.*2185T>G (n.*2185T>G) c.2288T>G (p.Ile763Ser) c.*771T>G (n.*771T>G) c.*2295T>G (n.*2295T>G) c.2045T>G (p.Ile682Ser) c.62T>G (p.Ile21Ser) c.121T>G c.1402-10188T>G (n.1402-10188T>G) c.2381T>G (p.Ile794Ser) c.2561T>G (p.Ile854Ser) c.2228T>G (p.Ile743Ser) | |
| 7 | g.117592639dup | CA913111881 | CFTR | c.2472dup (p.Asn825Ter) c.*2186dup (n.*2186dup) c.2289dup (p.Asn764Ter) c.*772dup (n.*772dup) c.*2296dup (n.*2296dup) c.2046dup (p.Asn683Ter) c.63dup (p.Asn22Ter) c.122dup c.1402-10187dup (n.1402-10187dup) c.2382dup (p.Asn795Ter) c.2562dup (p.Asn855Ter) c.2229dup (p.Asn744Ter) | |
| 7 | g.117592639del | CA326823 | CFTR | c.2472del (p.Asn825ThrfsTer5) c.*2186del (n.*2186del) c.2289del (p.Asn764ThrfsTer5) c.*772del (n.*772del) c.*2296del (n.*2296del) c.2046del (p.Asn683ThrfsTer5) c.63del (p.Asn22ThrfsTer5) c.122del c.1402-10187del (n.1402-10187del) c.2382del (p.Asn795ThrfsTer5) c.2562del (p.Asn855ThrfsTer5) c.2229del (p.Asn744ThrfsTer5) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117592639T>A | CA457448985 | CFTR | c.2472T>A (p.Ile824=) c.*2186T>A (n.*2186T>A) c.2289T>A (p.Ile763=) c.*772T>A (n.*772T>A) c.*2296T>A (n.*2296T>A) c.2046T>A (p.Ile682=) c.63T>A (p.Ile21=) c.122T>A c.1402-10187T>A (n.1402-10187T>A) c.2382T>A (p.Ile794=) c.2562T>A (p.Ile854=) c.2229T>A (p.Ile743=) | ClinVar |
| 7 | g.117592639T>C | CA457448986 | CFTR | c.2472T>C (p.Ile824=) c.*2186T>C (n.*2186T>C) c.2289T>C (p.Ile763=) c.*772T>C (n.*772T>C) c.*2296T>C (n.*2296T>C) c.2046T>C (p.Ile682=) c.63T>C (p.Ile21=) c.122T>C c.1402-10187T>C (n.1402-10187T>C) c.2382T>C (p.Ile794=) c.2562T>C (p.Ile854=) c.2229T>C (p.Ile743=) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117592639T>G | CA368981570 | CFTR | c.2472T>G (p.Ile824Met) c.*2186T>G (n.*2186T>G) c.2289T>G (p.Ile763Met) c.*772T>G (n.*772T>G) c.*2296T>G (n.*2296T>G) c.2046T>G (p.Ile682Met) c.63T>G (p.Ile21Met) c.122T>G c.1402-10187T>G (n.1402-10187T>G) c.2382T>G (p.Ile794Met) c.2562T>G (p.Ile854Met) c.2229T>G (p.Ile743Met) | ClinVar |
| 7 | g.117592639T= | CA1737395736 | CFTR | c.2472T= (p.Ile824=) c.*2186T= (n.*2186T=) c.2289T= (p.Ile763=) c.*772T= (n.*772T=) c.*2296T= (n.*2296T=) c.2046T= (p.Ile682=) c.63T= (p.Ile21=) c.122T= c.1402-10187T= (n.1402-10187T=) c.2382T= (p.Ile794=) c.2562T= (p.Ile854=) c.2229T= (p.Ile743=) | |
| 7 | g.117592640A>C | CA368981573 | CFTR | c.2473A>C (p.Asn825His) c.*2187A>C (n.*2187A>C) c.2290A>C (p.Asn764His) c.*773A>C (n.*773A>C) c.*2297A>C (n.*2297A>C) c.2047A>C (p.Asn683His) c.64A>C (p.Asn22His) c.123A>C c.1402-10186A>C (n.1402-10186A>C) c.2383A>C (p.Asn795His) c.2563A>C (p.Asn855His) c.2230A>C (p.Asn744His) | |
| 7 | g.117592640A>G | CA368981574 | CFTR | c.2473A>G (p.Asn825Asp) c.*2187A>G (n.*2187A>G) c.2290A>G (p.Asn764Asp) c.*773A>G (n.*773A>G) c.*2297A>G (n.*2297A>G) c.2047A>G (p.Asn683Asp) c.64A>G (p.Asn22Asp) c.123A>G c.1402-10186A>G (n.1402-10186A>G) c.2383A>G (p.Asn795Asp) c.2563A>G (p.Asn855Asp) c.2230A>G (p.Asn744Asp) | gnomAD v4 |
| 7 | g.117592640A>T | CA368981575 | CFTR | c.2473A>T (p.Asn825Tyr) c.*2187A>T (n.*2187A>T) c.2290A>T (p.Asn764Tyr) c.*773A>T (n.*773A>T) c.*2297A>T (n.*2297A>T) c.2047A>T (p.Asn683Tyr) c.64A>T (p.Asn22Tyr) c.123A>T c.1402-10186A>T (n.1402-10186A>T) c.2383A>T (p.Asn795Tyr) c.2563A>T (p.Asn855Tyr) c.2230A>T (p.Asn744Tyr) | |
| 7 | g.117592642_117592645dup | CA658822501 | CFTR | c.2475_2478dup (p.Glu827ArgfsTer10) c.*2189_*2192dup (n.*2189_*2192dup) c.2292_2295dup (p.Glu766ArgfsTer10) c.*775_*778dup (n.*775_*778dup) c.*2299_*2302dup (n.*2299_*2302dup) c.2049_2052dup (p.Glu685ArgfsTer10) c.66_69dup (p.Glu24ArgfsTer10) c.125_128dup c.1402-10184_1402-10181dup (n.1402-10184_1402-10181dup) c.2385_2388dup (p.Glu797ArgfsTer10) c.2565_2568dup (p.Glu857ArgfsTer10) c.2232_2235dup (p.Glu746ArgfsTer10) | ClinVar dbSNP |
| 7 | g.117592641A= | CA1737395744 | CFTR | c.2474A= (p.Asn825=) c.*2188A= (n.*2188A=) c.2291A= (p.Asn764=) c.*774A= (n.*774A=) c.*2298A= (n.*2298A=) c.2048A= (p.Asn683=) c.65A= (p.Asn22=) c.124A= c.1402-10185A= (n.1402-10185A=) c.2384A= (p.Asn795=) c.2564A= (p.Asn855=) c.2231A= (p.Asn744=) | |
| 7 | g.117592641A>C | CA368981577 | CFTR | c.2474A>C (p.Asn825Thr) c.*2188A>C (n.*2188A>C) c.2291A>C (p.Asn764Thr) c.*774A>C (n.*774A>C) c.*2298A>C (n.*2298A>C) c.2048A>C (p.Asn683Thr) c.65A>C (p.Asn22Thr) c.124A>C c.1402-10185A>C (n.1402-10185A>C) c.2384A>C (p.Asn795Thr) c.2564A>C (p.Asn855Thr) c.2231A>C (p.Asn744Thr) | |
| 7 | g.117592641A>G | CA368981579 | CFTR | c.2474A>G (p.Asn825Ser) c.*2188A>G (n.*2188A>G) c.2291A>G (p.Asn764Ser) c.*774A>G (n.*774A>G) c.*2298A>G (n.*2298A>G) c.2048A>G (p.Asn683Ser) c.65A>G (p.Asn22Ser) c.124A>G c.1402-10185A>G (n.1402-10185A>G) c.2384A>G (p.Asn795Ser) c.2564A>G (p.Asn855Ser) c.2231A>G (p.Asn744Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117592641A>T | CA368981583 | CFTR | c.2474A>T (p.Asn825Ile) c.*2188A>T (n.*2188A>T) c.2291A>T (p.Asn764Ile) c.*774A>T (n.*774A>T) c.*2298A>T (n.*2298A>T) c.2048A>T (p.Asn683Ile) c.65A>T (p.Asn22Ile) c.124A>T c.1402-10185A>T (n.1402-10185A>T) c.2384A>T (p.Asn795Ile) c.2564A>T (p.Asn855Ile) c.2231A>T (p.Asn744Ile) | |
| 7 | g.117592642C>A | CA368981587 | CFTR | c.2475C>A (p.Asn825Lys) c.*2189C>A (n.*2189C>A) c.2292C>A (p.Asn764Lys) c.*775C>A (n.*775C>A) c.*2299C>A (n.*2299C>A) c.2049C>A (p.Asn683Lys) c.66C>A (p.Asn22Lys) c.125C>A c.1402-10184C>A (n.1402-10184C>A) c.2385C>A (p.Asn795Lys) c.2565C>A (p.Asn855Lys) c.2232C>A (p.Asn744Lys) | gnomAD v4 |
| 7 | g.117592642C= | CA1737395751 | CFTR | c.2475C= (p.Asn825=) c.*2189C= (n.*2189C=) c.2292C= (p.Asn764=) c.*775C= (n.*775C=) c.*2299C= (n.*2299C=) c.2049C= (p.Asn683=) c.66C= (p.Asn22=) c.125C= c.1402-10184C= (n.1402-10184C=) c.2385C= (p.Asn795=) c.2565C= (p.Asn855=) c.2232C= (p.Asn744=) | |
| 7 | g.117592642C>G | CA368981589 | CFTR | c.2475C>G (p.Asn825Lys) c.*2189C>G (n.*2189C>G) c.2292C>G (p.Asn764Lys) c.*775C>G (n.*775C>G) c.*2299C>G (n.*2299C>G) c.2049C>G (p.Asn683Lys) c.66C>G (p.Asn22Lys) c.125C>G c.1402-10184C>G (n.1402-10184C>G) c.2385C>G (p.Asn795Lys) c.2565C>G (p.Asn855Lys) c.2232C>G (p.Asn744Lys) | |
| 7 | g.117592642C>T | CA4451186 | CFTR | c.2475C>T (p.Asn825=) c.*2189C>T (n.*2189C>T) c.2292C>T (p.Asn764=) c.*775C>T (n.*775C>T) c.*2299C>T (n.*2299C>T) c.2049C>T (p.Asn683=) c.66C>T (p.Asn22=) c.125C>T c.1402-10184C>T (n.1402-10184C>T) c.2385C>T (p.Asn795=) c.2565C>T (p.Asn855=) c.2232C>T (p.Asn744=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117592643G>A | CA326824 | CFTR | c.2476G>A (p.Glu826Lys) c.*2190G>A (n.*2190G>A) c.2293G>A (p.Glu765Lys) c.*776G>A (n.*776G>A) c.*2300G>A (n.*2300G>A) c.2050G>A (p.Glu684Lys) c.67G>A (p.Glu23Lys) c.126G>A c.1402-10183G>A (n.1402-10183G>A) c.2386G>A (p.Glu796Lys) c.2566G>A (p.Glu856Lys) c.2233G>A (p.Glu745Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |