UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117527502_117531824del | CA2580076333 | CFTR | c.274-3397_489+710del c.*171-3397_*386+710del c.*98-3397_*313+710del c.31-3397_246+710del c.364-3397_579+710del | ClinVar |
| 7 | g.117530896_117531112delinsTAGGAAGTCACCAAAGCAGTACAGCCTCTCTTACTGGGAAGAATCATAGCTTCCTATGACCCGGATAACAAGGAGGAACGCTCTATCGCGATTTATCTAGGCATAGGCTTATGCCTTCTCTTTATTGTGAGGACACTGCTCCTACACCCAGCCATTTTTGGCCTTCATCACATTGGAATGCAGATGAGAATAGCTATGTTTAGTTTGATTTATAAGA | CA1737359079 | CFTR | c.274-3_487delinsTAGGAAGTCACCAAAGCAGTACAGCCTCTCTTACTGGGAAGAATCATAGCTTCCTATGACCCGGATAACAAGGAGGAACGCTCTATCGCGATTTATCTAGGCATAGGCTTATGCCTTCTCTTTATTGTGAGGACACTGCTCCTACACCCAGCCATTTTTGGCCTTCATCACATTGGAATGCAGATGAGAATAGCTATGTTTAGTTTGATTTATAAGA c.*171-3_*384delinsTAGGAAGTCACCAAAGCAGTACAGCCTCTCTTACTGGGAAGAATCATAGCTTCCTATGACCCGGATAACAAGGAGGAACGCTCTATCGCGATTTATCTAGGCATAGGCTTATGCCTTCTCTTTATTGTGAGGACACTGCTCCTACACCCAGCCATTTTTGGCCTTCATCACATTGGAATGCAGATGAGAATAGCTATGTTTAGTTTGATTTATAAGA c.*98-3_*311delinsTAGGAAGTCACCAAAGCAGTACAGCCTCTCTTACTGGGAAGAATCATAGCTTCCTATGACCCGGATAACAAGGAGGAACGCTCTATCGCGATTTATCTAGGCATAGGCTTATGCCTTCTCTTTATTGTGAGGACACTGCTCCTACACCCAGCCATTTTTGGCCTTCATCACATTGGAATGCAGATGAGAATAGCTATGTTTAGTTTGATTTATAAGA c.31-3_244delinsTAGGAAGTCACCAAAGCAGTACAGCCTCTCTTACTGGGAAGAATCATAGCTTCCTATGACCCGGATAACAAGGAGGAACGCTCTATCGCGATTTATCTAGGCATAGGCTTATGCCTTCTCTTTATTGTGAGGACACTGCTCCTACACCCAGCCATTTTTGGCCTTCATCACATTGGAATGCAGATGAGAATAGCTATGTTTAGTTTGATTTATAAGA c.364-3_577delinsTAGGAAGTCACCAAAGCAGTACAGCCTCTCTTACTGGGAAGAATCATAGCTTCCTATGACCCGGATAACAAGGAGGAACGCTCTATCGCGATTTATCTAGGCATAGGCTTATGCCTTCTCTTTATTGTGAGGACACTGCTCCTACACCCAGCCATTTTTGGCCTTCATCACATTGGAATGCAGATGAGAATAGCTATGTTTAGTTTGATTTATAAGA | |
| 7 | g.117530900_117531115del | CA913189986 | CFTR | c.275_489+1del c.*172_*386+1del c.*99_*313+1del c.32_246+1del c.365_579+1del | ClinVar dbSNP |
| 7 | g.117530900_117534366del | CA913189987 | CFTR | c.275_579+1del c.*172_*476+1del c.*99_*403+1del c.32_336+1del c.275_490-882del c.365_669+1del | ClinVar |
| 7 | g.117530919_117530960del | CA2695208292 | CFTR | c.294_335del (p.Gln98_Asp112delinsHis) c.*191_*232del (n.*191_*232del) c.*118_*159del (n.*118_*159del) c.51_92del (p.Gln17_Asp31delinsHis) c.384_425del (p.Gln128_Asp142delinsHis) | |
| 7 | g.117530941_117530949delinsATAGCTTCC | CA1737359237 | CFTR | c.316_324delinsATAGCTTCC (p.Ile106=) c.*213_*221delinsATAGCTTCC (n.*213_*221delinsATAGCTTCC) c.*140_*148delinsATAGCTTCC (n.*140_*148delinsATAGCTTCC) c.73_81delinsATAGCTTCC (p.Ile25=) c.406_414delinsATAGCTTCC (p.Ile136=) | |
| 7 | g.117530944_117530951del | CA327090 | CFTR | c.319_326del (p.Ala107Ter) c.*216_*223del (n.*216_*223del) c.*143_*150del (n.*143_*150del) c.76_83del (p.Ala26Ter) c.409_416del (p.Ala137Ter) | ClinVar dbSNP |
| 7 | g.117530944G>A | CA368974364 | CFTR | c.319G>A (p.Ala107Thr) c.*216G>A (n.*216G>A) c.*143G>A (n.*143G>A) c.76G>A (p.Ala26Thr) c.409G>A (p.Ala137Thr) | |
| 7 | g.117530944G>C | CA368974367 | CFTR | c.319G>C (p.Ala107Pro) c.*216G>C (n.*216G>C) c.*143G>C (n.*143G>C) c.76G>C (p.Ala26Pro) c.409G>C (p.Ala137Pro) | ClinVar dbSNP |
| 7 | g.117530944G= | CA1737359243 | CFTR | c.319G= (p.Ala107=) c.*216G= (n.*216G=) c.*143G= (n.*143G=) c.76G= (p.Ala26=) c.409G= (p.Ala137=) | |
| 7 | g.117530944G>T | CA368974369 | CFTR | c.319G>T (p.Ala107Ser) c.*216G>T (n.*216G>T) c.*143G>T (n.*143G>T) c.76G>T (p.Ala26Ser) c.409G>T (p.Ala137Ser) | |
| 7 | g.117530945C>A | CA368974372 | CFTR | c.320C>A (p.Ala107Asp) c.*217C>A (n.*217C>A) c.*144C>A (n.*144C>A) c.77C>A (p.Ala26Asp) c.410C>A (p.Ala137Asp) | |
| 7 | g.117530945C>G | CA368974373 | CFTR | c.320C>G (p.Ala107Gly) c.*217C>G (n.*217C>G) c.*144C>G (n.*144C>G) c.77C>G (p.Ala26Gly) c.410C>G (p.Ala137Gly) | ClinVar |
| 7 | g.117530945C>T | CA368974374 | CFTR | c.320C>T (p.Ala107Val) c.*217C>T (n.*217C>T) c.*144C>T (n.*144C>T) c.77C>T (p.Ala26Val) c.410C>T (p.Ala137Val) | |
| 7 | g.117530946T>A | CA457448595 | CFTR | c.321T>A (p.Ala107=) c.*218T>A (n.*218T>A) c.*145T>A (n.*145T>A) c.78T>A (p.Ala26=) c.411T>A (p.Ala137=) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117530946T>C | CA457448596 | CFTR | c.321T>C (p.Ala107=) c.*218T>C (n.*218T>C) c.*145T>C (n.*145T>C) c.78T>C (p.Ala26=) c.411T>C (p.Ala137=) | |
| 7 | g.117530946T>G | CA4450705 | CFTR | c.321T>G (p.Ala107=) c.*218T>G (n.*218T>G) c.*145T>G (n.*145T>G) c.78T>G (p.Ala26=) c.411T>G (p.Ala137=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117530946T= | CA1737359248 | CFTR | c.321T= (p.Ala107=) c.*218T= (n.*218T=) c.*145T= (n.*145T=) c.78T= (p.Ala26=) c.411T= (p.Ala137=) | |
| 7 | g.117530947T>A | CA368974375 | CFTR | c.322T>A (p.Ser108Thr) c.*219T>A (n.*219T>A) c.*146T>A (n.*146T>A) c.79T>A (p.Ser27Thr) c.412T>A (p.Ser138Thr) | |
| 7 | g.117530947T>C | CA368974376 | CFTR | c.322T>C (p.Ser108Pro) c.*219T>C (n.*219T>C) c.*146T>C (n.*146T>C) c.79T>C (p.Ser27Pro) c.412T>C (p.Ser138Pro) | ClinVar |
| 7 | g.117530947T>G | CA368974377 | CFTR | c.322T>G (p.Ser108Ala) c.*219T>G (n.*219T>G) c.*146T>G (n.*146T>G) c.79T>G (p.Ser27Ala) c.412T>G (p.Ser138Ala) | |
| 7 | g.117530948C>A | CA368974378 | CFTR | c.323C>A (p.Ser108Tyr) c.*220C>A (n.*220C>A) c.*147C>A (n.*147C>A) c.80C>A (p.Ser27Tyr) c.413C>A (p.Ser138Tyr) | COSMIC |
| 7 | g.117530948C= | CA1737359256 | CFTR | c.323C= (p.Ser108=) c.*220C= (n.*220C=) c.*147C= (n.*147C=) c.80C= (p.Ser27=) c.413C= (p.Ser138=) | |
| 7 | g.117530948C>G | CA368974379 | CFTR | c.323C>G (p.Ser108Cys) c.*220C>G (n.*220C>G) c.*147C>G (n.*147C>G) c.80C>G (p.Ser27Cys) c.413C>G (p.Ser138Cys) | |
| 7 | g.117530948C>T | CA327108 | CFTR | c.323C>T (p.Ser108Phe) c.*220C>T (n.*220C>T) c.*147C>T (n.*147C>T) c.80C>T (p.Ser27Phe) c.413C>T (p.Ser138Phe) | ClinVar dbSNP |
| 7 | g.117530949C>A | CA457448598 | CFTR | c.324C>A (p.Ser108=) c.*221C>A (n.*221C>A) c.*148C>A (n.*148C>A) c.81C>A (p.Ser27=) c.414C>A (p.Ser138=) | |
| 7 | g.117530949C>G | CA457448600 | CFTR | c.324C>G (p.Ser108=) c.*221C>G (n.*221C>G) c.*148C>G (n.*148C>G) c.81C>G (p.Ser27=) c.414C>G (p.Ser138=) | |
| 7 | g.117530949C>T | CA457448599 | CFTR | c.324C>T (p.Ser108=) c.*221C>T (n.*221C>T) c.*148C>T (n.*148C>T) c.81C>T (p.Ser27=) c.414C>T (p.Ser138=) | gnomAD v4 |
| 7 | g.117530949_117530952delinsCTAT | CA1737359260 | CFTR | c.324_327delinsCTAT (p.Ser108=) c.*221_*224delinsCTAT (n.*221_*224delinsCTAT) c.*148_*151delinsCTAT (n.*148_*151delinsCTAT) c.81_84delinsCTAT (p.Ser27=) c.414_417delinsCTAT (p.Ser138=) | |
| 7 | g.117530950T>A | CA327114 | CFTR | c.325T>A (p.Tyr109Asn) c.*222T>A (n.*222T>A) c.*149T>A (n.*149T>A) c.82T>A (p.Tyr28Asn) c.415T>A (p.Tyr139Asn) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117530950T>C | CA368974380 | CFTR | c.325T>C (p.Tyr109His) c.*222T>C (n.*222T>C) c.*149T>C (n.*149T>C) c.82T>C (p.Tyr28His) c.415T>C (p.Tyr139His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117530950T>G | CA368974381 | CFTR | c.325T>G (p.Tyr109Asp) c.*222T>G (n.*222T>G) c.*149T>G (n.*149T>G) c.82T>G (p.Tyr28Asp) c.415T>G (p.Tyr139Asp) | dbSNP |
| 7 | g.117530950T= | CA1737359270 | CFTR | c.325T= (p.Tyr109=) c.*222T= (n.*222T=) c.*149T= (n.*149T=) c.82T= (p.Tyr28=) c.415T= (p.Tyr139=) | |
| 7 | g.117530950_117530952delinsG | CA328112 | CFTR | c.325_327delinsG (p.Tyr109GlyfsTer4) c.*222_*224delinsG (n.*222_*224delinsG) c.*149_*151delinsG (n.*149_*151delinsG) c.82_84delinsG (p.Tyr28GlyfsTer4) c.415_417delinsG (p.Tyr139GlyfsTer4) | ClinVar dbSNP |
| 7 | g.117530951_117530952del | CA327120 | CFTR | c.326_327del (p.Tyr109Ter) c.*223_*224del (n.*223_*224del) c.*150_*151del (n.*150_*151del) c.83_84del (p.Tyr28Ter) c.416_417del (p.Tyr139Ter) | ClinVar dbSNP |
| 7 | g.117530950_117530951insG | CA923726135 | CFTR | c.325_326insG (p.Tyr109Ter) c.*222_*223insG (n.*222_*223insG) c.*149_*150insG (n.*149_*150insG) c.82_83insG (p.Tyr28Ter) c.415_416insG (p.Tyr139Ter) | |
| 7 | g.117530951A= | CA1737359280 | CFTR | c.326A= (p.Tyr109=) c.*223A= (n.*223A=) c.*150A= (n.*150A=) c.83A= (p.Tyr28=) c.416A= (p.Tyr139=) | |
| 7 | g.117530951A>C | CA368974382 | CFTR | c.326A>C (p.Tyr109Ser) c.*223A>C (n.*223A>C) c.*150A>C (n.*150A>C) c.83A>C (p.Tyr28Ser) c.416A>C (p.Tyr139Ser) | |
| 7 | g.117530951A>G | CA325582 | CFTR | c.326A>G (p.Tyr109Cys) c.*223A>G (n.*223A>G) c.*150A>G (n.*150A>G) c.83A>G (p.Tyr28Cys) c.416A>G (p.Tyr139Cys) | ClinVar dbSNP COSMIC |
| 7 | g.117530951A>T | CA368974383 | CFTR | c.326A>T (p.Tyr109Phe) c.*223A>T (n.*223A>T) c.*150A>T (n.*150A>T) c.83A>T (p.Tyr28Phe) c.416A>T (p.Tyr139Phe) | |
| 7 | g.117530952T>A | CA327123 | CFTR | c.327T>A (p.Tyr109Ter) c.*224T>A (n.*224T>A) c.*151T>A (n.*151T>A) c.84T>A (p.Tyr28Ter) c.417T>A (p.Tyr139Ter) | ClinVar dbSNP |
| 7 | g.117530952T>C | CA457448601 | CFTR | c.327T>C (p.Tyr109=) c.*224T>C (n.*224T>C) c.*151T>C (n.*151T>C) c.84T>C (p.Tyr28=) c.417T>C (p.Tyr139=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117530952T>G | CA368974384 | CFTR | c.327T>G (p.Tyr109Ter) c.*224T>G (n.*224T>G) c.*151T>G (n.*151T>G) c.84T>G (p.Tyr28Ter) c.417T>G (p.Tyr139Ter) | ClinVar dbSNP |
| 7 | g.117530952T= | CA1737359286 | CFTR | c.327T= (p.Tyr109=) c.*224T= (n.*224T=) c.*151T= (n.*151T=) c.84T= (p.Tyr28=) c.417T= (p.Tyr139=) | |
| 7 | g.117530952_117530953delinsTG | CA1737359289 | CFTR | c.327_328delinsTG (p.Tyr109=) c.*224_*225delinsTG (n.*224_*225delinsTG) c.*151_*152delinsTG (n.*151_*152delinsTG) c.84_85delinsTG (p.Tyr28=) c.417_418delinsTG (p.Tyr139=) | |
| 7 | g.117530953del | CA327129 | CFTR | c.328del (p.Asp110ThrfsTer14) c.*225del (n.*225del) c.*152del (n.*152del) c.85del (p.Asp29ThrfsTer14) c.85del (p.Asp29ThrfsTer?) c.418del (p.Asp140ThrfsTer14) | ClinVar dbSNP |
| 7 | g.117530953G>A | CA368974385 | CFTR | c.328G>A (p.Asp110Asn) c.*225G>A (n.*225G>A) c.*152G>A (n.*152G>A) c.85G>A (p.Asp29Asn) c.418G>A (p.Asp140Asn) | ClinVar dbSNP |
| 7 | g.117530953G>C | CA284835 | CFTR | c.328G>C (p.Asp110His) c.*225G>C (n.*225G>C) c.*152G>C (n.*152G>C) c.85G>C (p.Asp29His) c.418G>C (p.Asp140His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117530953G= | CA1737359299 | CFTR | c.328G= (p.Asp110=) c.*225G= (n.*225G=) c.*152G= (n.*152G=) c.85G= (p.Asp29=) c.418G= (p.Asp140=) | |
| 7 | g.117530953G>T | CA327127 | CFTR | c.328G>T (p.Asp110Tyr) c.*225G>T (n.*225G>T) c.*152G>T (n.*152G>T) c.85G>T (p.Asp29Tyr) c.418G>T (p.Asp140Tyr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117530954A>C | CA368974386 | CFTR | c.329A>C (p.Asp110Ala) c.*226A>C (n.*226A>C) c.*153A>C (n.*153A>C) c.86A>C (p.Asp29Ala) c.419A>C (p.Asp140Ala) | |
| 7 | g.117530954A>G | CA368974387 | CFTR | c.329A>G (p.Asp110Gly) c.*226A>G (n.*226A>G) c.*153A>G (n.*153A>G) c.86A>G (p.Asp29Gly) c.419A>G (p.Asp140Gly) | |
| 7 | g.117530954A>T | CA368974389 | CFTR | c.329A>T (p.Asp110Val) c.*226A>T (n.*226A>T) c.*153A>T (n.*153A>T) c.86A>T (p.Asp29Val) c.419A>T (p.Asp140Val) | ClinVar |
| 7 | g.117530955C>A | CA327140 | CFTR | c.330C>A (p.Asp110Glu) c.*227C>A (n.*227C>A) c.*154C>A (n.*154C>A) c.87C>A (p.Asp29Glu) c.420C>A (p.Asp140Glu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117530955C= | CA1737359306 | CFTR | c.330C= (p.Asp110=) c.*227C= (n.*227C=) c.*154C= (n.*154C=) c.87C= (p.Asp29=) c.420C= (p.Asp140=) | |
| 7 | g.117530955C>G | CA368974391 | CFTR | c.330C>G (p.Asp110Glu) c.*227C>G (n.*227C>G) c.*154C>G (n.*154C>G) c.87C>G (p.Asp29Glu) c.420C>G (p.Asp140Glu) | ClinVar |
| 7 | g.117530955C>T | CA457448602 | CFTR | c.330C>T (p.Asp110=) c.*227C>T (n.*227C>T) c.*154C>T (n.*154C>T) c.87C>T (p.Asp29=) c.420C>T (p.Asp140=) | ClinVar |
| 7 | g.117530957del | CA2573141539 | CFTR | c.332del (p.Pro111ArgfsTer13) c.*229del (n.*229del) c.*156del (n.*156del) c.89del (p.Pro30ArgfsTer13) c.89del (p.Pro30ArgfsTer?) c.422del (p.Pro141ArgfsTer13) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117530956C>A | CA368974393 | CFTR | c.331C>A (p.Pro111Thr) c.*228C>A (n.*228C>A) c.*155C>A (n.*155C>A) c.88C>A (p.Pro30Thr) c.421C>A (p.Pro141Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117530956C= | CA1737359309 | CFTR | c.331C= (p.Pro111=) c.*228C= (n.*228C=) c.*155C= (n.*155C=) c.88C= (p.Pro30=) c.421C= (p.Pro141=) | |
| 7 | g.117530956C>G | CA327145 | CFTR | c.331C>G (p.Pro111Ala) c.*228C>G (n.*228C>G) c.*155C>G (n.*155C>G) c.88C>G (p.Pro30Ala) c.421C>G (p.Pro141Ala) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117530956C>T | CA368974394 | CFTR | c.331C>T (p.Pro111Ser) c.*228C>T (n.*228C>T) c.*155C>T (n.*155C>T) c.88C>T (p.Pro30Ser) c.421C>T (p.Pro141Ser) | gnomAD v4 |
| 7 | g.117530957C>A | CA368974397 | CFTR | c.332C>A (p.Pro111Gln) c.*229C>A (n.*229C>A) c.*156C>A (n.*156C>A) c.89C>A (p.Pro30Gln) c.422C>A (p.Pro141Gln) | |
| 7 | g.117530957C= | CA1737359313 | CFTR | c.332C= (p.Pro111=) c.*229C= (n.*229C=) c.*156C= (n.*156C=) c.89C= (p.Pro30=) c.422C= (p.Pro141=) | |
| 7 | g.117530957C>G | CA10606587 | CFTR | c.332C>G (p.Pro111Arg) c.*229C>G (n.*229C>G) c.*156C>G (n.*156C>G) c.89C>G (p.Pro30Arg) c.422C>G (p.Pro141Arg) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117530957C>T | CA327149 | CFTR | c.332C>T (p.Pro111Leu) c.*229C>T (n.*229C>T) c.*156C>T (n.*156C>T) c.89C>T (p.Pro30Leu) c.422C>T (p.Pro141Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117530958G>A | CA4450706 | CFTR | c.333G>A (p.Pro111=) c.*230G>A (n.*230G>A) c.*157G>A (n.*157G>A) c.90G>A (p.Pro30=) c.423G>A (p.Pro141=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117530958G>C | CA457448604 | CFTR | c.333G>C (p.Pro111=) c.*230G>C (n.*230G>C) c.*157G>C (n.*157G>C) c.90G>C (p.Pro30=) c.423G>C (p.Pro141=) | |
| 7 | g.117530958G= | CA1737359316 | CFTR | c.333G= (p.Pro111=) c.*230G= (n.*230G=) c.*157G= (n.*157G=) c.90G= (p.Pro30=) c.423G= (p.Pro141=) | |
| 7 | g.117530958G>T | CA457448605 | CFTR | c.333G>T (p.Pro111=) c.*230G>T (n.*230G>T) c.*157G>T (n.*157G>T) c.90G>T (p.Pro30=) c.423G>T (p.Pro141=) | |
| 7 | g.117530959G>A | CA4450707 | CFTR | c.334G>A (p.Asp112Asn) c.*231G>A (n.*231G>A) c.*158G>A (n.*158G>A) c.91G>A (p.Asp31Asn) c.424G>A (p.Asp142Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 7 | g.117530959G>C | CA368974401 | CFTR | c.334G>C (p.Asp112His) c.*231G>C (n.*231G>C) c.*158G>C (n.*158G>C) c.91G>C (p.Asp31His) c.424G>C (p.Asp142His) | |
| 7 | g.117530959G= | CA1737359320 | CFTR | c.334G= (p.Asp112=) c.*231G= (n.*231G=) c.*158G= (n.*158G=) c.91G= (p.Asp31=) c.424G= (p.Asp142=) | |
| 7 | g.117530959G>T | CA368974402 | CFTR | c.334G>T (p.Asp112Tyr) c.*231G>T (n.*231G>T) c.*158G>T (n.*158G>T) c.91G>T (p.Asp31Tyr) c.424G>T (p.Asp142Tyr) | |
| 7 | g.117530960A= | CA1737359325 | CFTR | c.335A= (p.Asp112=) c.*232A= (n.*232A=) c.*159A= (n.*159A=) c.92A= (p.Asp31=) c.425A= (p.Asp142=) | |
| 7 | g.117530960A>C | CA368974404 | CFTR | c.335A>C (p.Asp112Ala) c.*232A>C (n.*232A>C) c.*159A>C (n.*159A>C) c.92A>C (p.Asp31Ala) c.425A>C (p.Asp142Ala) | COSMIC |
| 7 | g.117530960A>G | CA4450708 | CFTR | c.335A>G (p.Asp112Gly) c.*232A>G (n.*232A>G) c.*159A>G (n.*159A>G) c.92A>G (p.Asp31Gly) c.425A>G (p.Asp142Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117530960A>T | CA368974406 | CFTR | c.335A>T (p.Asp112Val) c.*232A>T (n.*232A>T) c.*159A>T (n.*159A>T) c.92A>T (p.Asp31Val) c.425A>T (p.Asp142Val) | |
| 7 | g.117530961T>A | CA368974408 | CFTR | c.336T>A (p.Asp112Glu) c.*233T>A (n.*233T>A) c.*160T>A (n.*160T>A) c.93T>A (p.Asp31Glu) c.426T>A (p.Asp142Glu) | |
| 7 | g.117530961T>C | CA164943672 | CFTR | c.336T>C (p.Asp112=) c.*233T>C (n.*233T>C) c.*160T>C (n.*160T>C) c.93T>C (p.Asp31=) c.426T>C (p.Asp142=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117530961T>G | CA368974407 | CFTR | c.336T>G (p.Asp112Glu) c.*233T>G (n.*233T>G) c.*160T>G (n.*160T>G) c.93T>G (p.Asp31Glu) c.426T>G (p.Asp142Glu) | gnomAD v3 gnomAD v4 |
| 7 | g.117530961T= | CA1737359330 | CFTR | c.336T= (p.Asp112=) c.*233T= (n.*233T=) c.*160T= (n.*160T=) c.93T= (p.Asp31=) c.426T= (p.Asp142=) | |
| 7 | g.117530962A= | CA1737359332 | CFTR | c.337A= (p.Asn113=) c.*234A= (n.*234A=) c.*161A= (n.*161A=) c.94A= (p.Asn32=) c.427A= (p.Asn143=) | |
| 7 | g.117530962A>C | CA368974410 | CFTR | c.337A>C (p.Asn113His) c.*234A>C (n.*234A>C) c.*161A>C (n.*161A>C) c.94A>C (p.Asn32His) c.427A>C (p.Asn143His) | |
| 7 | g.117530962A>G | CA368974412 | CFTR | c.337A>G (p.Asn113Asp) c.*234A>G (n.*234A>G) c.*161A>G (n.*161A>G) c.94A>G (p.Asn32Asp) c.427A>G (p.Asn143Asp) | dbSNP |
| 7 | g.117530962A>T | CA368974413 | CFTR | c.337A>T (p.Asn113Tyr) c.*234A>T (n.*234A>T) c.*161A>T (n.*161A>T) c.94A>T (p.Asn32Tyr) c.427A>T (p.Asn143Tyr) | |
| 7 | g.117530963A= | CA1737359334 | CFTR | c.338A= (p.Asn113=) c.*235A= (n.*235A=) c.*162A= (n.*162A=) c.95A= (p.Asn32=) c.428A= (p.Asn143=) | |
| 7 | g.117530963A>C | CA368974415 | CFTR | c.338A>C (p.Asn113Thr) c.*235A>C (n.*235A>C) c.*162A>C (n.*162A>C) c.95A>C (p.Asn32Thr) c.428A>C (p.Asn143Thr) | |
| 7 | g.117530963A>G | CA368974416 | CFTR | c.338A>G (p.Asn113Ser) c.*235A>G (n.*235A>G) c.*162A>G (n.*162A>G) c.95A>G (p.Asn32Ser) c.428A>G (p.Asn143Ser) | dbSNP |
| 7 | g.117530963A>T | CA327166 | CFTR | c.338A>T (p.Asn113Ile) c.*235A>T (n.*235A>T) c.*162A>T (n.*162A>T) c.95A>T (p.Asn32Ile) c.428A>T (p.Asn143Ile) | dbSNP |
| 7 | g.117530964C>A | CA368974421 | CFTR | c.339C>A (p.Asn113Lys) c.*236C>A (n.*236C>A) c.*163C>A (n.*163C>A) c.96C>A (p.Asn32Lys) c.429C>A (p.Asn143Lys) | |
| 7 | g.117530964C>G | CA368974419 | CFTR | c.339C>G (p.Asn113Lys) c.*236C>G (n.*236C>G) c.*163C>G (n.*163C>G) c.96C>G (p.Asn32Lys) c.429C>G (p.Asn143Lys) | |
| 7 | g.117530964C>T | CA457448609 | CFTR | c.339C>T (p.Asn113=) c.*236C>T (n.*236C>T) c.*163C>T (n.*163C>T) c.96C>T (p.Asn32=) c.429C>T (p.Asn143=) | |
| 7 | g.117530964_117530967delinsCAAG | CA1737359337 | CFTR | c.339_342delinsCAAG (p.Asn113=) c.*236_*239delinsCAAG (n.*236_*239delinsCAAG) c.*163_*166delinsCAAG (n.*163_*166delinsCAAG) c.96_99delinsCAAG (p.Asn32=) c.429_432delinsCAAG (p.Asn143=) | |
| 7 | g.117530965A= | CA1737359343 | CFTR | c.340A= (p.Lys114=) c.*237A= (n.*237A=) c.*164A= (n.*164A=) c.97A= (p.Lys33=) c.430A= (p.Lys144=) | |
| 7 | g.117530965A>C | CA368974422 | CFTR | c.340A>C (p.Lys114Gln) c.*237A>C (n.*237A>C) c.*164A>C (n.*164A>C) c.97A>C (p.Lys33Gln) c.430A>C (p.Lys144Gln) | |
| 7 | g.117530965A>G | CA368974423 | CFTR | c.340A>G (p.Lys114Glu) c.*237A>G (n.*237A>G) c.*164A>G (n.*164A>G) c.97A>G (p.Lys33Glu) c.430A>G (p.Lys144Glu) | dbSNP gnomAD v4 |
| 7 | g.117530965A>T | CA327170 | CFTR | c.340A>T (p.Lys114Ter) c.*237A>T (n.*237A>T) c.*164A>T (n.*164A>T) c.97A>T (p.Lys33Ter) c.430A>T (p.Lys144Ter) | dbSNP |
| 7 | g.117530965_117530967del | CA645509175 | CFTR | c.340_342del (p.Lys114del) c.*237_*239del (n.*237_*239del) c.*164_*166del (n.*164_*166del) c.97_99del (p.Lys33del) c.430_432del (p.Lys144del) | ClinVar dbSNP |
| 7 | g.117530965_117530968delinsAAGG | CA1737359344 | CFTR | c.340_343delinsAAGG (p.Lys114=) c.*237_*240delinsAAGG (n.*237_*240delinsAAGG) c.*164_*167delinsAAGG (n.*164_*167delinsAAGG) c.97_100delinsAAGG (p.Lys33=) c.430_433delinsAAGG (p.Lys144=) | |
| 7 | g.117530966A= | CA1737359347 | CFTR | c.341A= (p.Lys114=) c.*238A= (n.*238A=) c.*165A= (n.*165A=) c.98A= (p.Lys33=) c.431A= (p.Lys144=) | |
| 7 | g.117530966A>C | CA368974424 | CFTR | c.341A>C (p.Lys114Thr) c.*238A>C (n.*238A>C) c.*165A>C (n.*165A>C) c.98A>C (p.Lys33Thr) c.431A>C (p.Lys144Thr) | |
| 7 | g.117530966A>G | CA368974426 | CFTR | c.341A>G (p.Lys114Arg) c.*238A>G (n.*238A>G) c.*165A>G (n.*165A>G) c.98A>G (p.Lys33Arg) c.431A>G (p.Lys144Arg) | dbSNP |
| 7 | g.117530966A>T | CA368974428 | CFTR | c.341A>T (p.Lys114Met) c.*238A>T (n.*238A>T) c.*165A>T (n.*165A>T) c.98A>T (p.Lys33Met) c.431A>T (p.Lys144Met) | |
| 7 | g.117530970_117530972del | CA327187 | CFTR | c.345_347del (p.Glu116del) c.*242_*244del (n.*242_*244del) c.*169_*171del (n.*169_*171del) c.102_104del (p.Glu35del) c.435_437del (p.Glu146del) | ClinVar dbSNP |
| 7 | g.117530966_117530978del | CA2695208294 | CFTR | c.341_353del (p.Lys114IlefsTer6) c.*238_*250del (n.*238_*250del) c.*165_*177del (n.*165_*177del) c.98_110del (p.Lys33IlefsTer6) c.98_110del (p.Lys33=) c.431_443del (p.Lys144IlefsTer6) | |
| 7 | g.117530967G>A | CA457448610 | CFTR | c.342G>A (p.Lys114=) c.*239G>A (n.*239G>A) c.*166G>A (n.*166G>A) c.99G>A (p.Lys33=) c.432G>A (p.Lys144=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117530967G>C | CA368974430 | CFTR | c.342G>C (p.Lys114Asn) c.*239G>C (n.*239G>C) c.*166G>C (n.*166G>C) c.99G>C (p.Lys33Asn) c.432G>C (p.Lys144Asn) | ClinVar gnomAD v4 |
| 7 | g.117530967G= | CA1737359351 | CFTR | c.342G= (p.Lys114=) c.*239G= (n.*239G=) c.*166G= (n.*166G=) c.99G= (p.Lys33=) c.432G= (p.Lys144=) | |
| 7 | g.117530967G>T | CA368974431 | CFTR | c.342G>T (p.Lys114Asn) c.*239G>T (n.*239G>T) c.*166G>T (n.*166G>T) c.99G>T (p.Lys33Asn) c.432G>T (p.Lys144Asn) | |
| 7 | g.117530968G>A | CA368974434 | CFTR | c.343G>A (p.Glu115Lys) c.*240G>A (n.*240G>A) c.*167G>A (n.*167G>A) c.100G>A (p.Glu34Lys) c.433G>A (p.Glu145Lys) | |
| 7 | g.117530968G>C | CA368974435 | CFTR | c.343G>C (p.Glu115Gln) c.*240G>C (n.*240G>C) c.*167G>C (n.*167G>C) c.100G>C (p.Glu34Gln) c.433G>C (p.Glu145Gln) | |
| 7 | g.117530968G>T | CA368974437 | CFTR | c.343G>T (p.Glu115Ter) c.*240G>T (n.*240G>T) c.*167G>T (n.*167G>T) c.100G>T (p.Glu34Ter) c.433G>T (p.Glu145Ter) | |
| 7 | g.117530969A= | CA1737359354 | CFTR | c.344A= (p.Glu115=) c.*241A= (n.*241A=) c.*168A= (n.*168A=) c.101A= (p.Glu34=) c.434A= (p.Glu145=) | |
| 7 | g.117530969A>C | CA368974438 | CFTR | c.344A>C (p.Glu115Ala) c.*241A>C (n.*241A>C) c.*168A>C (n.*168A>C) c.101A>C (p.Glu34Ala) c.434A>C (p.Glu145Ala) | |
| 7 | g.117530969A>G | CA368974439 | CFTR | c.344A>G (p.Glu115Gly) c.*241A>G (n.*241A>G) c.*168A>G (n.*168A>G) c.101A>G (p.Glu34Gly) c.434A>G (p.Glu145Gly) | |
| 7 | g.117530969A>T | CA164943684 | CFTR | c.344A>T (p.Glu115Val) c.*241A>T (n.*241A>T) c.*168A>T (n.*168A>T) c.101A>T (p.Glu34Val) c.434A>T (p.Glu145Val) | dbSNP gnomAD v4 |
| 7 | g.117530970G>A | CA457448612 | CFTR | c.345G>A (p.Glu115=) c.*242G>A (n.*242G>A) c.*169G>A (n.*169G>A) c.102G>A (p.Glu34=) c.435G>A (p.Glu145=) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117530970G>C | CA368974441 | CFTR | c.345G>C (p.Glu115Asp) c.*242G>C (n.*242G>C) c.*169G>C (n.*169G>C) c.102G>C (p.Glu34Asp) c.435G>C (p.Glu145Asp) | |
| 7 | g.117530970G>T | CA368974443 | CFTR | c.345G>T (p.Glu115Asp) c.*242G>T (n.*242G>T) c.*169G>T (n.*169G>T) c.102G>T (p.Glu34Asp) c.435G>T (p.Glu145Asp) | |
| 7 | g.117530971G>A | CA327204 | CFTR | c.346G>A (p.Glu116Lys) c.*243G>A (n.*243G>A) c.*170G>A (n.*170G>A) c.103G>A (p.Glu35Lys) c.436G>A (p.Glu146Lys) | ClinVar dbSNP COSMIC |
| 7 | g.117530971G>C | CA327206 | CFTR | c.346G>C (p.Glu116Gln) c.*243G>C (n.*243G>C) c.*170G>C (n.*170G>C) c.103G>C (p.Glu35Gln) c.436G>C (p.Glu146Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117530971G= | CA1737359358 | CFTR | c.346G= (p.Glu116=) c.*243G= (n.*243G=) c.*170G= (n.*170G=) c.103G= (p.Glu35=) c.436G= (p.Glu146=) | |
| 7 | g.117530971G>T | CA368974445 | CFTR | c.346G>T (p.Glu116Ter) c.*243G>T (n.*243G>T) c.*170G>T (n.*170G>T) c.103G>T (p.Glu35Ter) c.436G>T (p.Glu146Ter) | |
| 7 | g.117530972A= | CA1737359361 | CFTR | c.347A= (p.Glu116=) c.*244A= (n.*244A=) c.*171A= (n.*171A=) c.104A= (p.Glu35=) c.437A= (p.Glu146=) | |
| 7 | g.117530972A>C | CA4450710 | CFTR | c.347A>C (p.Glu116Ala) c.*244A>C (n.*244A>C) c.*171A>C (n.*171A>C) c.104A>C (p.Glu35Ala) c.437A>C (p.Glu146Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117530972A>G | CA4450709 | CFTR | c.347A>G (p.Glu116Gly) c.*244A>G (n.*244A>G) c.*171A>G (n.*171A>G) c.104A>G (p.Glu35Gly) c.437A>G (p.Glu146Gly) | dbSNP ExAC gnomAD v2 |
| 7 | g.117530972A>T | CA368974447 | CFTR | c.347A>T (p.Glu116Val) c.*244A>T (n.*244A>T) c.*171A>T (n.*171A>T) c.104A>T (p.Glu35Val) c.437A>T (p.Glu146Val) | |
| 7 | g.117530973A>C | CA368974450 | CFTR | c.348A>C (p.Glu116Asp) c.*245A>C (n.*245A>C) c.*172A>C (n.*172A>C) c.105A>C (p.Glu35Asp) c.438A>C (p.Glu146Asp) | |
| 7 | g.117530973A>G | CA457448614 | CFTR | c.348A>G (p.Glu116=) c.*245A>G (n.*245A>G) c.*172A>G (n.*172A>G) c.105A>G (p.Glu35=) c.438A>G (p.Glu146=) | gnomAD v4 |
| 7 | g.117530973A>T | CA368974452 | CFTR | c.348A>T (p.Glu116Asp) c.*245A>T (n.*245A>T) c.*172A>T (n.*172A>T) c.105A>T (p.Glu35Asp) c.438A>T (p.Glu146Asp) | |
| 7 | g.117530974C>A | CA4450711 | CFTR | c.349C>A (p.Arg117Ser) c.*246C>A (n.*246C>A) c.*173C>A (n.*173C>A) c.106C>A (p.Arg36Ser) c.439C>A (p.Arg147Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117530974C= | CA1737359370 | CFTR | c.349C= (p.Arg117=) c.*246C= (n.*246C=) c.*173C= (n.*173C=) c.106C= (p.Arg36=) c.439C= (p.Arg147=) | |
| 7 | g.117530974C>G | CA327217 | CFTR | c.349C>G (p.Arg117Gly) c.*246C>G (n.*246C>G) c.*173C>G (n.*173C>G) c.106C>G (p.Arg36Gly) c.439C>G (p.Arg147Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117530974C>T | CA328115 | CFTR | c.349C>T (p.Arg117Cys) c.*246C>T (n.*246C>T) c.*173C>T (n.*173C>T) c.106C>T (p.Arg36Cys) c.439C>T (p.Arg147Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117530975G>A | CA221026 | CFTR | c.350G>A (p.Arg117His) c.*247G>A (n.*247G>A) c.*174G>A (n.*174G>A) c.107G>A (p.Arg36His) c.440G>A (p.Arg147His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.[117530975G>A;117548635del] | CA353800 | CFTR | c.[350G>A;1210-6del] (p.Arg117His) c.[*247G>A;*1106+6527del] (n.[*247G>A;*1106+6527del]) c.[350G>A;1209+6527del] (p.Arg117His) c.[*174G>A;*1034-6del] (n.[*174G>A;*1034-6del]) c.[107G>A;966+6527del] (p.Arg36His) c.[107G>A;967-6del] (p.Arg36His) c.[350G>A;1120-6del] (p.Arg117His) c.[440G>A;1300-6del] (p.Arg147His) | |
| 7 | g.[117530975G>A;117548634_117548635del] | CA891862588 | CFTR | c.[350G>A;1210-7_1210-6del] (p.Arg117His) c.[*247G>A;*1106+6526_*1106+6527del] (n.[*247G>A;*1106+6526_*1106+6527del]) c.[350G>A;1209+6526_1209+6527del] (p.Arg117His) c.[*174G>A;*1034-7_*1034-6del] (n.[*174G>A;*1034-7_*1034-6del]) c.[107G>A;966+6526_966+6527del] (p.Arg36His) c.[107G>A;967-7_967-6del] (p.Arg36His) c.[350G>A;1120-7_1120-6del] (p.Arg117His) c.[440G>A;1300-7_1300-6del] (p.Arg147His) | ClinVar |
| 7 | g.117530975G>C | CA327221 | CFTR | c.350G>C (p.Arg117Pro) c.*247G>C (n.*247G>C) c.*174G>C (n.*174G>C) c.107G>C (p.Arg36Pro) c.440G>C (p.Arg147Pro) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117530975G= | CA1737359376 | CFTR | c.350G= (p.Arg117=) c.*247G= (n.*247G=) c.*174G= (n.*174G=) c.107G= (p.Arg36=) c.440G= (p.Arg147=) | |
| 7 | g.117530975G>T | CA327222 | CFTR | c.350G>T (p.Arg117Leu) c.*247G>T (n.*247G>T) c.*174G>T (n.*174G>T) c.107G>T (p.Arg36Leu) c.440G>T (p.Arg147Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117530975delinsTA | CA2573105981 | CFTR | c.350delinsTA (p.Arg117LeufsTer?) c.*247delinsTA (n.*247delinsTA) c.*174delinsTA (n.*174delinsTA) c.107delinsTA (p.Arg36LeufsTer?) c.440delinsTA (p.Arg147LeufsTer?) | |
| 7 | g.117530976C>A | CA457448616 | CFTR | c.351C>A (p.Arg117=) c.*248C>A (n.*248C>A) c.*175C>A (n.*175C>A) c.108C>A (p.Arg36=) c.441C>A (p.Arg147=) | |
| 7 | g.117530976C= | CA2740130076 | CFTR | c.351C= (p.Arg117=) c.*248C= (n.*248C=) c.*175C= (n.*175C=) c.108C= (p.Arg36=) c.441C= (p.Arg147=) | |
| 7 | g.117530976C>G | CA457448618 | CFTR | c.351C>G (p.Arg117=) c.*248C>G (n.*248C>G) c.*175C>G (n.*175C>G) c.108C>G (p.Arg36=) c.441C>G (p.Arg147=) | |
| 7 | g.117530976C>T | CA457448619 | CFTR | c.351C>T (p.Arg117=) c.*248C>T (n.*248C>T) c.*175C>T (n.*175C>T) c.108C>T (p.Arg36=) c.441C>T (p.Arg147=) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117530977T>A | CA368974456 | CFTR | c.352T>A (p.Ser118Thr) c.*249T>A (n.*249T>A) c.*176T>A (n.*176T>A) c.109T>A (p.Ser37Thr) c.109T>A c.442T>A (p.Ser148Thr) | |
| 7 | g.117530977T>C | CA368974457 | CFTR | c.352T>C (p.Ser118Pro) c.*249T>C (n.*249T>C) c.*176T>C (n.*176T>C) c.109T>C (p.Ser37Pro) c.109T>C c.442T>C (p.Ser148Pro) | |
| 7 | g.117530977T>G | CA368974458 | CFTR | c.352T>G (p.Ser118Ala) c.*249T>G (n.*249T>G) c.*176T>G (n.*176T>G) c.109T>G (p.Ser37Ala) c.109T>G c.442T>G (p.Ser148Ala) | |
| 7 | g.117530977T= | CA1737359382 | CFTR | c.352T= (p.Ser118=) c.*249T= (n.*249T=) c.*176T= (n.*176T=) c.109T= (p.Ser37=) c.109T= c.442T= (p.Ser148=) | |
| 7 | g.117530978C>A | CA368974459 | CFTR | c.353C>A (p.Ser118Tyr) c.*250C>A (n.*250C>A) c.*177C>A (n.*177C>A) c.110C>A (p.Ser37Tyr) c.110C>A c.443C>A (p.Ser148Tyr) | |
| 7 | g.117530978C= | CA1737359386 | CFTR | c.353C= (p.Ser118=) c.*250C= (n.*250C=) c.*177C= (n.*177C=) c.110C= (p.Ser37=) c.110C= c.443C= (p.Ser148=) | |
| 7 | g.117530978C>G | CA368974461 | CFTR | c.353C>G (p.Ser118Cys) c.*250C>G (n.*250C>G) c.*177C>G (n.*177C>G) c.110C>G (p.Ser37Cys) c.110C>G c.443C>G (p.Ser148Cys) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117530978C>T | CA368974463 | CFTR | c.353C>T (p.Ser118Phe) c.*250C>T (n.*250C>T) c.*177C>T (n.*177C>T) c.110C>T (p.Ser37Phe) c.110C>T c.443C>T (p.Ser148Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117530978dup | CA164943706 | CFTR | c.353dup (p.Ile119TyrfsTer?) c.*250dup (n.*250dup) c.*177dup (n.*177dup) c.110dup (p.Ile38TyrfsTer?) c.443dup (p.Ile149TyrfsTer?) | dbSNP |
| 7 | g.117530979T>A | CA457448622 | CFTR | c.354T>A (p.Ser118=) c.*251T>A (n.*251T>A) c.*178T>A (n.*178T>A) c.111T>A (p.Ser37=) c.444T>A (p.Ser148=) | ClinVar |
| 7 | g.117530979T>C | CA457448624 | CFTR | c.354T>C (p.Ser118=) c.*251T>C (n.*251T>C) c.*178T>C (n.*178T>C) c.111T>C (p.Ser37=) c.444T>C (p.Ser148=) | ClinVar dbSNP |
| 7 | g.117530979T>G | CA457448621 | CFTR | c.354T>G (p.Ser118=) c.*251T>G (n.*251T>G) c.*178T>G (n.*178T>G) c.111T>G (p.Ser37=) c.444T>G (p.Ser148=) | |
| 7 | g.117530979dup | CA2582341941 | CFTR | c.354dup (p.Ile119TyrfsTer?) c.*251dup (n.*251dup) c.*178dup (n.*178dup) c.111dup (p.Ile38TyrfsTer?) c.444dup (p.Ile149TyrfsTer?) | ClinVar |
| 7 | g.117530980A= | CA1737359390 | CFTR | c.355A= (p.Ile119=) c.*252A= (n.*252A=) c.*179A= (n.*179A=) c.112A= (p.Ile38=) c.445A= (p.Ile149=) | |
| 7 | g.117530980A>C | CA368974467 | CFTR | c.355A>C (p.Ile119Leu) c.*252A>C (n.*252A>C) c.*179A>C (n.*179A>C) c.112A>C (p.Ile38Leu) c.445A>C (p.Ile149Leu) | gnomAD v4 |
| 7 | g.117530980A>G | CA260237 | CFTR | c.355A>G (p.Ile119Val) c.*252A>G (n.*252A>G) c.*179A>G (n.*179A>G) c.112A>G (p.Ile38Val) c.445A>G (p.Ile149Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117530980A>T | CA368974464 | CFTR | c.355A>T (p.Ile119Phe) c.*252A>T (n.*252A>T) c.*179A>T (n.*179A>T) c.112A>T (p.Ile38Phe) c.445A>T (p.Ile149Phe) | |
| 7 | g.117530981T>A | CA368974468 | CFTR | c.356T>A (p.Ile119Asn) c.*253T>A (n.*253T>A) c.*180T>A (n.*180T>A) c.113T>A (p.Ile38Asn) c.446T>A (p.Ile149Asn) | ClinVar |
| 7 | g.117530981T>C | CA368974470 | CFTR | c.356T>C (p.Ile119Thr) c.*253T>C (n.*253T>C) c.*180T>C (n.*180T>C) c.113T>C (p.Ile38Thr) c.446T>C (p.Ile149Thr) | |
| 7 | g.117530981T>G | CA368974471 | CFTR | c.356T>G (p.Ile119Ser) c.*253T>G (n.*253T>G) c.*180T>G (n.*180T>G) c.113T>G (p.Ile38Ser) c.446T>G (p.Ile149Ser) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117530981_117530982delinsTC | CA1737359394 | CFTR | c.356_357delinsTC (p.Ile119=) c.*253_*254delinsTC (n.*253_*254delinsTC) c.*180_*181delinsTC (n.*180_*181delinsTC) c.113_114delinsTC (p.Ile38=) c.446_447delinsTC (p.Ile149=) | |
| 7 | g.117530982del | CA327232 | CFTR | c.357del (p.Ile119MetfsTer5) c.*254del (n.*254del) c.*181del (n.*181del) c.114del (p.Ile38MetfsTer5) c.447del (p.Ile149MetfsTer5) | dbSNP |
| 7 | g.117530982C>A | CA457448627 | CFTR | c.357C>A (p.Ile119=) c.*254C>A (n.*254C>A) c.*181C>A (n.*181C>A) c.114C>A (p.Ile38=) c.447C>A (p.Ile149=) | ClinVar dbSNP |
| 7 | g.117530982C= | CA1737359399 | CFTR | c.357C= (p.Ile119=) c.*254C= (n.*254C=) c.*181C= (n.*181C=) c.114C= (p.Ile38=) c.447C= (p.Ile149=) | |
| 7 | g.117530982C>G | CA368974473 | CFTR | c.357C>G (p.Ile119Met) c.*254C>G (n.*254C>G) c.*181C>G (n.*181C>G) c.114C>G (p.Ile38Met) c.447C>G (p.Ile149Met) | gnomAD v4 COSMIC |
| 7 | g.117530982C>T | CA457448628 | CFTR | c.357C>T (p.Ile119=) c.*254C>T (n.*254C>T) c.*181C>T (n.*181C>T) c.114C>T (p.Ile38=) c.447C>T (p.Ile149=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117530983G>A | CA327235 | CFTR | c.358G>A (p.Ala120Thr) c.*255G>A (n.*255G>A) c.*182G>A (n.*182G>A) c.115G>A (p.Ala39Thr) c.448G>A (p.Ala150Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 7 | g.117530983G>C | CA368974475 | CFTR | c.358G>C (p.Ala120Pro) c.*255G>C (n.*255G>C) c.*182G>C (n.*182G>C) c.115G>C (p.Ala39Pro) c.448G>C (p.Ala150Pro) | dbSNP |
| 7 | g.117530983G= | CA1737359403 | CFTR | c.358G= (p.Ala120=) c.*255G= (n.*255G=) c.*182G= (n.*182G=) c.115G= (p.Ala39=) c.448G= (p.Ala150=) | |
| 7 | g.117530983G>T | CA4450712 | CFTR | c.358G>T (p.Ala120Ser) c.*255G>T (n.*255G>T) c.*182G>T (n.*182G>T) c.115G>T (p.Ala39Ser) c.448G>T (p.Ala150Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117530984C>A | CA368974478 | CFTR | c.359C>A (p.Ala120Glu) c.*256C>A (n.*256C>A) c.*183C>A (n.*183C>A) c.116C>A (p.Ala39Glu) c.449C>A (p.Ala150Glu) | |
| 7 | g.117530984C= | CA1737359412 | CFTR | c.359C= (p.Ala120=) c.*256C= (n.*256C=) c.*183C= (n.*183C=) c.116C= (p.Ala39=) c.449C= (p.Ala150=) | |
| 7 | g.117530984C>G | CA368974479 | CFTR | c.359C>G (p.Ala120Gly) c.*256C>G (n.*256C>G) c.*183C>G (n.*183C>G) c.116C>G (p.Ala39Gly) c.449C>G (p.Ala150Gly) | |
| 7 | g.117530984C>T | CA368974481 | CFTR | c.359C>T (p.Ala120Val) c.*256C>T (n.*256C>T) c.*183C>T (n.*183C>T) c.116C>T (p.Ala39Val) c.449C>T (p.Ala150Val) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117530985G>A | CA500005 | CFTR | c.360G>A (p.Ala120=) c.*257G>A (n.*257G>A) c.*184G>A (n.*184G>A) c.117G>A (p.Ala39=) c.450G>A (p.Ala150=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 7 | g.117530985G>C | CA16609326 | CFTR | c.360G>C (p.Ala120=) c.*257G>C (n.*257G>C) c.*184G>C (n.*184G>C) c.117G>C (p.Ala39=) c.450G>C (p.Ala150=) | ClinVar |
| 7 | g.117530985G= | CA1737359419 | CFTR | c.360G= (p.Ala120=) c.*257G= (n.*257G=) c.*184G= (n.*184G=) c.117G= (p.Ala39=) c.450G= (p.Ala150=) | |
| 7 | g.117530985G>T | CA16609325 | CFTR | c.360G>T (p.Ala120=) c.*257G>T (n.*257G>T) c.*184G>T (n.*184G>T) c.117G>T (p.Ala39=) c.450G>T (p.Ala150=) | ClinVar gnomAD v4 COSMIC |
| 7 | g.117530986A= | CA1737359425 | CFTR | c.361A= (p.Ile121=) c.*258A= (n.*258A=) c.*185A= (n.*185A=) c.118A= (p.Ile40=) c.451A= (p.Ile151=) | |
| 7 | g.117530986A>C | CA368974485 | CFTR | c.361A>C (p.Ile121Leu) c.*258A>C (n.*258A>C) c.*185A>C (n.*185A>C) c.118A>C (p.Ile40Leu) c.451A>C (p.Ile151Leu) | |
| 7 | g.117530986A>G | CA368974484 | CFTR | c.361A>G (p.Ile121Val) c.*258A>G (n.*258A>G) c.*185A>G (n.*185A>G) c.118A>G (p.Ile40Val) c.451A>G (p.Ile151Val) | ClinVar dbSNP |
| 7 | g.117530986A>T | CA4450713 | CFTR | c.361A>T (p.Ile121Phe) c.*258A>T (n.*258A>T) c.*185A>T (n.*185A>T) c.118A>T (p.Ile40Phe) c.451A>T (p.Ile151Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117530987T>A | CA368974486 | CFTR | c.362T>A (p.Ile121Asn) c.*259T>A (n.*259T>A) c.*186T>A (n.*186T>A) c.119T>A (p.Ile40Asn) c.452T>A (p.Ile151Asn) | |
| 7 | g.117530987T>C | CA368974487 | CFTR | c.362T>C (p.Ile121Thr) c.*259T>C (n.*259T>C) c.*186T>C (n.*186T>C) c.119T>C (p.Ile40Thr) c.452T>C (p.Ile151Thr) | |
| 7 | g.117530987T>G | CA368974489 | CFTR | c.362T>G (p.Ile121Ser) c.*259T>G (n.*259T>G) c.*186T>G (n.*186T>G) c.119T>G (p.Ile40Ser) c.452T>G (p.Ile151Ser) | |
| 7 | g.117530988T>A | CA457448631 | CFTR | c.363T>A (p.Ile121=) c.*260T>A (n.*260T>A) c.*187T>A (n.*187T>A) c.120T>A (p.Ile40=) c.453T>A (p.Ile151=) | |
| 7 | g.117530988T>C | CA457448632 | CFTR | c.363T>C (p.Ile121=) c.*260T>C (n.*260T>C) c.*187T>C (n.*187T>C) c.120T>C (p.Ile40=) c.453T>C (p.Ile151=) | |
| 7 | g.117530988T>G | CA368974491 | CFTR | c.363T>G (p.Ile121Met) c.*260T>G (n.*260T>G) c.*187T>G (n.*187T>G) c.120T>G (p.Ile40Met) c.453T>G (p.Ile151Met) | |
| 7 | g.117530989T>A | CA368974492 | CFTR | c.364T>A (p.Tyr122Asn) c.*261T>A (n.*261T>A) c.*188T>A (n.*188T>A) c.121T>A (p.Tyr41Asn) c.454T>A (p.Tyr152Asn) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117530989T>C | CA327249 | CFTR | c.364T>C (p.Tyr122His) c.*261T>C (n.*261T>C) c.*188T>C (n.*188T>C) c.121T>C (p.Tyr41His) c.454T>C (p.Tyr152His) | ClinVar dbSNP COSMIC |
| 7 | g.117530989T>G | CA368974493 | CFTR | c.364T>G (p.Tyr122Asp) c.*261T>G (n.*261T>G) c.*188T>G (n.*188T>G) c.121T>G (p.Tyr41Asp) c.454T>G (p.Tyr152Asp) | |
| 7 | g.117530989T= | CA1737359428 | CFTR | c.364T= (p.Tyr122=) c.*261T= (n.*261T=) c.*188T= (n.*188T=) c.121T= (p.Tyr41=) c.454T= (p.Tyr152=) | |
| 7 | g.117530990A= | CA1737359435 | CFTR | c.365A= (p.Tyr122=) c.*262A= (n.*262A=) c.*189A= (n.*189A=) c.122A= (p.Tyr41=) c.455A= (p.Tyr152=) | |
| 7 | g.117530990A>C | CA368974494 | CFTR | c.365A>C (p.Tyr122Ser) c.*262A>C (n.*262A>C) c.*189A>C (n.*189A>C) c.122A>C (p.Tyr41Ser) c.455A>C (p.Tyr152Ser) | |
| 7 | g.117530990A>G | CA4450714 | CFTR | c.365A>G (p.Tyr122Cys) c.*262A>G (n.*262A>G) c.*189A>G (n.*189A>G) c.122A>G (p.Tyr41Cys) c.455A>G (p.Tyr152Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117530990A>T | CA368974495 | CFTR | c.365A>T (p.Tyr122Phe) c.*262A>T (n.*262A>T) c.*189A>T (n.*189A>T) c.122A>T (p.Tyr41Phe) c.455A>T (p.Tyr152Phe) | gnomAD v4 |
| 7 | g.117530991T>A | CA328118 | CFTR | c.366T>A (p.Tyr122Ter) c.*263T>A (n.*263T>A) c.*190T>A (n.*190T>A) c.123T>A (p.Tyr41Ter) c.456T>A (p.Tyr152Ter) | ClinVar dbSNP |
| 7 | g.117530991T>C | CA457448636 | CFTR | c.366T>C (p.Tyr122=) c.*263T>C (n.*263T>C) c.*190T>C (n.*190T>C) c.123T>C (p.Tyr41=) c.456T>C (p.Tyr152=) | |
| 7 | g.117530991T>G | CA368974498 | CFTR | c.366T>G (p.Tyr122Ter) c.*263T>G (n.*263T>G) c.*190T>G (n.*190T>G) c.123T>G (p.Tyr41Ter) c.456T>G (p.Tyr152Ter) | |
| 7 | g.117530991T= | CA1737359441 | CFTR | c.366T= (p.Tyr122=) c.*263T= (n.*263T=) c.*190T= (n.*190T=) c.123T= (p.Tyr41=) c.456T= (p.Tyr152=) | |
| 7 | g.117530992C>A | CA368974500 | CFTR | c.367C>A (p.Leu123Ile) c.*264C>A (n.*264C>A) c.*191C>A (n.*191C>A) c.124C>A (p.Leu42Ile) c.457C>A (p.Leu153Ile) | |
| 7 | g.117530992C>G | CA368974501 | CFTR | c.367C>G (p.Leu123Val) c.*264C>G (n.*264C>G) c.*191C>G (n.*191C>G) c.124C>G (p.Leu42Val) c.457C>G (p.Leu153Val) | gnomAD v4 |
| 7 | g.117530992C>T | CA457448637 | CFTR | c.367C>T (p.Leu123=) c.*264C>T (n.*264C>T) c.*191C>T (n.*191C>T) c.124C>T (p.Leu42=) c.457C>T (p.Leu153=) | |
| 7 | g.117530992dup | CA2695208295 | CFTR | c.367dup (p.Leu123ProfsTer?) c.*264dup (n.*264dup) c.*191dup (n.*191dup) c.124dup (p.Leu42ProfsTer?) c.457dup (p.Leu153ProfsTer?) | |
| 7 | g.117530993T>A | CA368974503 | CFTR | c.368T>A (p.Leu123Gln) c.*265T>A (n.*265T>A) c.*192T>A (n.*192T>A) c.125T>A (p.Leu42Gln) c.458T>A (p.Leu153Gln) | |
| 7 | g.117530993T>C | CA368974506 | CFTR | c.368T>C (p.Leu123Pro) c.*265T>C (n.*265T>C) c.*192T>C (n.*192T>C) c.125T>C (p.Leu42Pro) c.458T>C (p.Leu153Pro) | |
| 7 | g.117530993T>G | CA368974505 | CFTR | c.368T>G (p.Leu123Arg) c.*265T>G (n.*265T>G) c.*192T>G (n.*192T>G) c.125T>G (p.Leu42Arg) c.458T>G (p.Leu153Arg) | |
| 7 | g.117530994A= | CA1737359447 | CFTR | c.369A= (p.Leu123=) c.*266A= (n.*266A=) c.*193A= (n.*193A=) c.126A= (p.Leu42=) c.459A= (p.Leu153=) | |
| 7 | g.117530994A>C | CA457448640 | CFTR | c.369A>C (p.Leu123=) c.*266A>C (n.*266A>C) c.*193A>C (n.*193A>C) c.126A>C (p.Leu42=) c.459A>C (p.Leu153=) | |
| 7 | g.117530994A>G | CA457448641 | CFTR | c.369A>G (p.Leu123=) c.*266A>G (n.*266A>G) c.*193A>G (n.*193A>G) c.126A>G (p.Leu42=) c.459A>G (p.Leu153=) | dbSNP |
| 7 | g.117530994A>T | CA457448642 | CFTR | c.369A>T (p.Leu123=) c.*266A>T (n.*266A>T) c.*193A>T (n.*193A>T) c.126A>T (p.Leu42=) c.459A>T (p.Leu153=) | |
| 7 | g.117530995G>A | CA368974508 | CFTR | c.370G>A (p.Gly124Ser) c.*267G>A (n.*267G>A) c.*194G>A (n.*194G>A) c.127G>A (p.Gly43Ser) c.460G>A (p.Gly154Ser) | COSMIC |
| 7 | g.117530995G>C | CA260239 | CFTR | c.370G>C (p.Gly124Arg) c.*267G>C (n.*267G>C) c.*194G>C (n.*194G>C) c.127G>C (p.Gly43Arg) c.460G>C (p.Gly154Arg) | ClinVar dbSNP |
| 7 | g.117530995G= | CA1737359450 | CFTR | c.370G= (p.Gly124=) c.*267G= (n.*267G=) c.*194G= (n.*194G=) c.127G= (p.Gly43=) c.460G= (p.Gly154=) | |
| 7 | g.117530995G>T | CA368974510 | CFTR | c.370G>T (p.Gly124Cys) c.*267G>T (n.*267G>T) c.*194G>T (n.*194G>T) c.127G>T (p.Gly43Cys) c.460G>T (p.Gly154Cys) | |
| 7 | g.117530996G>A | CA368974512 | CFTR | c.371G>A (p.Gly124Asp) c.*268G>A (n.*268G>A) c.*195G>A (n.*195G>A) c.128G>A (p.Gly43Asp) c.461G>A (p.Gly154Asp) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117530996G>C | CA368974513 | CFTR | c.371G>C (p.Gly124Ala) c.*268G>C (n.*268G>C) c.*195G>C (n.*195G>C) c.128G>C (p.Gly43Ala) c.461G>C (p.Gly154Ala) | |
| 7 | g.117530996G= | CA1737359452 | CFTR | c.371G= (p.Gly124=) c.*268G= (n.*268G=) c.*195G= (n.*195G=) c.128G= (p.Gly43=) c.461G= (p.Gly154=) | |
| 7 | g.117530996G>T | CA368974514 | CFTR | c.371G>T (p.Gly124Val) c.*268G>T (n.*268G>T) c.*195G>T (n.*195G>T) c.128G>T (p.Gly43Val) c.461G>T (p.Gly154Val) | |
| 7 | g.117530997C>A | CA457448645 | CFTR | c.372C>A (p.Gly124=) c.*269C>A (n.*269C>A) c.*196C>A (n.*196C>A) c.129C>A (p.Gly43=) c.462C>A (p.Gly154=) | |
| 7 | g.117530997C= | CA1737359453 | CFTR | c.372C= (p.Gly124=) c.*269C= (n.*269C=) c.*196C= (n.*196C=) c.129C= (p.Gly43=) c.462C= (p.Gly154=) | |
| 7 | g.117530997C>G | CA457448646 | CFTR | c.372C>G (p.Gly124=) c.*269C>G (n.*269C>G) c.*196C>G (n.*196C>G) c.129C>G (p.Gly43=) c.462C>G (p.Gly154=) | |
| 7 | g.117530997C>T | CA16612012 | CFTR | c.372C>T (p.Gly124=) c.*269C>T (n.*269C>T) c.*196C>T (n.*196C>T) c.129C>T (p.Gly43=) c.462C>T (p.Gly154=) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117530998A>C | CA368974515 | CFTR | c.373A>C (p.Ile125Leu) c.*270A>C (n.*270A>C) c.*197A>C (n.*197A>C) c.130A>C (p.Ile44Leu) c.463A>C (p.Ile155Leu) | |
| 7 | g.117530998A>G | CA368974516 | CFTR | c.373A>G (p.Ile125Val) c.*270A>G (n.*270A>G) c.*197A>G (n.*197A>G) c.130A>G (p.Ile44Val) c.463A>G (p.Ile155Val) | |
| 7 | g.117530998A>T | CA368974517 | CFTR | c.373A>T (p.Ile125Leu) c.*270A>T (n.*270A>T) c.*197A>T (n.*197A>T) c.130A>T (p.Ile44Leu) c.463A>T (p.Ile155Leu) | |
| 7 | g.117530999T>A | CA368974519 | CFTR | c.374T>A (p.Ile125Lys) c.*271T>A (n.*271T>A) c.*198T>A (n.*198T>A) c.131T>A (p.Ile44Lys) c.464T>A (p.Ile155Lys) | |
| 7 | g.117530999T>C | CA327274 | CFTR | c.374T>C (p.Ile125Thr) c.*271T>C (n.*271T>C) c.*198T>C (n.*198T>C) c.131T>C (p.Ile44Thr) c.464T>C (p.Ile155Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117530999T>G | CA368974521 | CFTR | c.374T>G (p.Ile125Arg) c.*271T>G (n.*271T>G) c.*198T>G (n.*198T>G) c.131T>G (p.Ile44Arg) c.464T>G (p.Ile155Arg) | |
| 7 | g.117530999T= | CA1737359459 | CFTR | c.374T= (p.Ile125=) c.*271T= (n.*271T=) c.*198T= (n.*198T=) c.131T= (p.Ile44=) c.464T= (p.Ile155=) | |
| 7 | g.117531000A>C | CA457448648 | CFTR | c.375A>C (p.Ile125=) c.*272A>C (n.*272A>C) c.*199A>C (n.*199A>C) c.132A>C (p.Ile44=) c.465A>C (p.Ile155=) | |
| 7 | g.117531000A>G | CA368974522 | CFTR | c.375A>G (p.Ile125Met) c.*272A>G (n.*272A>G) c.*199A>G (n.*199A>G) c.132A>G (p.Ile44Met) c.465A>G (p.Ile155Met) | ClinVar |
| 7 | g.117531000A>T | CA457448647 | CFTR | c.375A>T (p.Ile125=) c.*272A>T (n.*272A>T) c.*199A>T (n.*199A>T) c.132A>T (p.Ile44=) c.465A>T (p.Ile155=) | |
| 7 | g.117531001G>A | CA327284 | CFTR | c.376G>A (p.Gly126Ser) c.*273G>A (n.*273G>A) c.*200G>A (n.*200G>A) c.133G>A (p.Gly45Ser) c.466G>A (p.Gly156Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117531001G>C | CA368974524 | CFTR | c.376G>C (p.Gly126Arg) c.*273G>C (n.*273G>C) c.*200G>C (n.*200G>C) c.133G>C (p.Gly45Arg) c.466G>C (p.Gly156Arg) | COSMIC |
| 7 | g.117531001G= | CA1737359472 | CFTR | c.376G= (p.Gly126=) c.*273G= (n.*273G=) c.*200G= (n.*200G=) c.133G= (p.Gly45=) c.466G= (p.Gly156=) | |
| 7 | g.117531001G>T | CA368974526 | CFTR | c.376G>T (p.Gly126Cys) c.*273G>T (n.*273G>T) c.*200G>T (n.*200G>T) c.133G>T (p.Gly45Cys) c.466G>T (p.Gly156Cys) | |
| 7 | g.117531002G>A | CA327290 | CFTR | c.377G>A (p.Gly126Asp) c.*274G>A (n.*274G>A) c.*201G>A (n.*201G>A) c.134G>A (p.Gly45Asp) c.467G>A (p.Gly156Asp) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117531002G>C | CA368974527 | CFTR | c.377G>C (p.Gly126Ala) c.*274G>C (n.*274G>C) c.*201G>C (n.*201G>C) c.134G>C (p.Gly45Ala) c.467G>C (p.Gly156Ala) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117531002G= | CA1737359481 | CFTR | c.377G= (p.Gly126=) c.*274G= (n.*274G=) c.*201G= (n.*201G=) c.134G= (p.Gly45=) c.467G= (p.Gly156=) | |
| 7 | g.117531002G>T | CA368974528 | CFTR | c.377G>T (p.Gly126Val) c.*274G>T (n.*274G>T) c.*201G>T (n.*201G>T) c.134G>T (p.Gly45Val) c.467G>T (p.Gly156Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117531002_117531009del | CA2684617326 | CFTR | c.377_384del (p.Gly126AlafsTer30) c.*274_*281del (n.*274_*281del) c.*201_*208del (n.*201_*208del) c.134_141del (p.Gly45AlafsTer30) c.467_474del (p.Gly156AlafsTer30) | gnomAD v4 |
| 7 | g.117531003C>A | CA457448651 | CFTR | c.378C>A (p.Gly126=) c.*275C>A (n.*275C>A) c.*202C>A (n.*202C>A) c.135C>A (p.Gly45=) c.468C>A (p.Gly156=) | |
| 7 | g.117531003C= | CA1737359488 | CFTR | c.378C= (p.Gly126=) c.*275C= (n.*275C=) c.*202C= (n.*202C=) c.135C= (p.Gly45=) c.468C= (p.Gly156=) | |
| 7 | g.117531003C>G | CA457448652 | CFTR | c.378C>G (p.Gly126=) c.*275C>G (n.*275C>G) c.*202C>G (n.*202C>G) c.135C>G (p.Gly45=) c.468C>G (p.Gly156=) | |
| 7 | g.117531003C>T | CA457448653 | CFTR | c.378C>T (p.Gly126=) c.*275C>T (n.*275C>T) c.*202C>T (n.*202C>T) c.135C>T (p.Gly45=) c.468C>T (p.Gly156=) | ClinVar COSMIC |
| 7 | g.117531004T>A | CA368974529 | CFTR | c.379T>A (p.Leu127Ile) c.*276T>A (n.*276T>A) c.*203T>A (n.*203T>A) c.136T>A (p.Leu46Ile) c.469T>A (p.Leu157Ile) | |
| 7 | g.117531004T>C | CA457448654 | CFTR | c.379T>C (p.Leu127=) c.*276T>C (n.*276T>C) c.*203T>C (n.*203T>C) c.136T>C (p.Leu46=) c.469T>C (p.Leu157=) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117531004T>G | CA368974531 | CFTR | c.379T>G (p.Leu127Val) c.*276T>G (n.*276T>G) c.*203T>G (n.*203T>G) c.136T>G (p.Leu46Val) c.469T>G (p.Leu157Val) | COSMIC |
| 7 | g.117531005_117531007dup | CA260244 | CFTR | c.380_382dup (p.Leu127_Cys128insLeu) c.*277_*279dup (n.*277_*279dup) c.*204_*206dup (n.*204_*206dup) c.137_139dup (p.Leu46_Cys47insLeu) c.470_472dup (p.Leu157_Cys158insLeu) | ClinVar dbSNP |
| 7 | g.117531005T>A | CA368974536 | CFTR | c.380T>A (p.Leu127Ter) c.*277T>A (n.*277T>A) c.*204T>A (n.*204T>A) c.137T>A (p.Leu46Ter) c.470T>A (p.Leu157Ter) | |
| 7 | g.117531005T>C | CA368974534 | CFTR | c.380T>C (p.Leu127Ser) c.*277T>C (n.*277T>C) c.*204T>C (n.*204T>C) c.137T>C (p.Leu46Ser) c.470T>C (p.Leu157Ser) | |
| 7 | g.117531005T>G | CA327296 | CFTR | c.380T>G (p.Leu127Ter) c.*277T>G (n.*277T>G) c.*204T>G (n.*204T>G) c.137T>G (p.Leu46Ter) c.470T>G (p.Leu157Ter) | ClinVar dbSNP |
| 7 | g.117531005T= | CA1737359500 | CFTR | c.380T= (p.Leu127=) c.*277T= (n.*277T=) c.*204T= (n.*204T=) c.137T= (p.Leu46=) c.470T= (p.Leu157=) | |
| 7 | g.117531006A= | CA1737359504 | CFTR | c.381A= (p.Leu127=) c.*278A= (n.*278A=) c.*205A= (n.*205A=) c.138A= (p.Leu46=) c.471A= (p.Leu157=) | |
| 7 | g.117531006A>C | CA368974538 | CFTR | c.381A>C (p.Leu127Phe) c.*278A>C (n.*278A>C) c.*205A>C (n.*205A>C) c.138A>C (p.Leu46Phe) c.471A>C (p.Leu157Phe) | dbSNP |
| 7 | g.117531006A>G | CA457448658 | CFTR | c.381A>G (p.Leu127=) c.*278A>G (n.*278A>G) c.*205A>G (n.*205A>G) c.138A>G (p.Leu46=) c.471A>G (p.Leu157=) | ClinVar |
| 7 | g.117531006A>T | CA368974540 | CFTR | c.381A>T (p.Leu127Phe) c.*278A>T (n.*278A>T) c.*205A>T (n.*205A>T) c.138A>T (p.Leu46Phe) c.471A>T (p.Leu157Phe) | |
| 7 | g.117531007T>A | CA368974542 | CFTR | c.382T>A (p.Cys128Ser) c.*279T>A (n.*279T>A) c.*206T>A (n.*206T>A) c.139T>A (p.Cys47Ser) c.472T>A (p.Cys158Ser) | |
| 7 | g.117531007T>C | CA368974544 | CFTR | c.382T>C (p.Cys128Arg) c.*279T>C (n.*279T>C) c.*206T>C (n.*206T>C) c.139T>C (p.Cys47Arg) c.472T>C (p.Cys158Arg) | |
| 7 | g.117531007T>G | CA368974545 | CFTR | c.382T>G (p.Cys128Gly) c.*279T>G (n.*279T>G) c.*206T>G (n.*206T>G) c.139T>G (p.Cys47Gly) c.472T>G (p.Cys158Gly) | |
| 7 | g.117531008G>A | CA368974552 | CFTR | c.383G>A (p.Cys128Tyr) c.*280G>A (n.*280G>A) c.*207G>A (n.*207G>A) c.140G>A (p.Cys47Tyr) c.473G>A (p.Cys158Tyr) | |
| 7 | g.117531008G>C | CA368974547 | CFTR | c.383G>C (p.Cys128Ser) c.*280G>C (n.*280G>C) c.*207G>C (n.*207G>C) c.140G>C (p.Cys47Ser) c.473G>C (p.Cys158Ser) | |
| 7 | g.117531008G>T | CA368974550 | CFTR | c.383G>T (p.Cys128Phe) c.*280G>T (n.*280G>T) c.*207G>T (n.*207G>T) c.140G>T (p.Cys47Phe) c.473G>T (p.Cys158Phe) | |
| 7 | g.117531009C>A | CA368974554 | CFTR | c.384C>A (p.Cys128Ter) c.*281C>A (n.*281C>A) c.*208C>A (n.*208C>A) c.141C>A (p.Cys47Ter) c.474C>A (p.Cys158Ter) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 7 | g.117531009C= | CA1737359506 | CFTR | c.384C= (p.Cys128=) c.*281C= (n.*281C=) c.*208C= (n.*208C=) c.141C= (p.Cys47=) c.474C= (p.Cys158=) | |
| 7 | g.117531009C>G | CA368974556 | CFTR | c.384C>G (p.Cys128Trp) c.*281C>G (n.*281C>G) c.*208C>G (n.*208C>G) c.141C>G (p.Cys47Trp) c.474C>G (p.Cys158Trp) | |
| 7 | g.117531009C>T | CA457448662 | CFTR | c.384C>T (p.Cys128=) c.*281C>T (n.*281C>T) c.*208C>T (n.*208C>T) c.141C>T (p.Cys47=) c.474C>T (p.Cys158=) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117531010C>A | CA368974558 | CFTR | c.385C>A (p.Leu129Ile) c.*282C>A (n.*282C>A) c.*209C>A (n.*209C>A) c.142C>A (p.Leu48Ile) c.475C>A (p.Leu159Ile) | |
| 7 | g.117531010C>G | CA368974564 | CFTR | c.385C>G (p.Leu129Val) c.*282C>G (n.*282C>G) c.*209C>G (n.*209C>G) c.142C>G (p.Leu48Val) c.475C>G (p.Leu159Val) | |
| 7 | g.117531010C>T | CA368974566 | CFTR | c.385C>T (p.Leu129Phe) c.*282C>T (n.*282C>T) c.*209C>T (n.*209C>T) c.142C>T (p.Leu48Phe) c.475C>T (p.Leu159Phe) | gnomAD v4 |
| 7 | g.117531010_117531011delinsCT | CA1737359507 | CFTR | c.385_386delinsCT (p.Leu129=) c.*282_*283delinsCT (n.*282_*283delinsCT) c.*209_*210delinsCT (n.*209_*210delinsCT) c.142_143delinsCT (p.Leu48=) c.475_476delinsCT (p.Leu159=) | |
| 7 | g.117531011T>A | CA368974567 | CFTR | c.386T>A (p.Leu129His) c.*283T>A (n.*283T>A) c.*210T>A (n.*210T>A) c.143T>A (p.Leu48His) c.476T>A (p.Leu159His) | dbSNP gnomAD v2 |
| 7 | g.117531011T>C | CA368974570 | CFTR | c.386T>C (p.Leu129Pro) c.*283T>C (n.*283T>C) c.*210T>C (n.*210T>C) c.143T>C (p.Leu48Pro) c.476T>C (p.Leu159Pro) | ClinVar |
| 7 | g.117531011T>G | CA368974571 | CFTR | c.386T>G (p.Leu129Arg) c.*283T>G (n.*283T>G) c.*210T>G (n.*210T>G) c.143T>G (p.Leu48Arg) c.476T>G (p.Leu159Arg) | ClinVar |
| 7 | g.117531011T= | CA1737359508 | CFTR | c.386T= (p.Leu129=) c.*283T= (n.*283T=) c.*210T= (n.*210T=) c.143T= (p.Leu48=) c.476T= (p.Leu159=) | |
| 7 | g.117531012del | CA327325 | CFTR | c.387del (p.Leu130SerfsTer4) c.*284del (n.*284del) c.*211del (n.*211del) c.144del (p.Leu49SerfsTer4) c.477del (p.Leu160SerfsTer4) | ClinVar dbSNP |
| 7 | g.117531012T>A | CA457448665 | CFTR | c.387T>A (p.Leu129=) c.*284T>A (n.*284T>A) c.*211T>A (n.*211T>A) c.144T>A (p.Leu48=) c.477T>A (p.Leu159=) | |
| 7 | g.117531012T>C | CA457448666 | CFTR | c.387T>C (p.Leu129=) c.*284T>C (n.*284T>C) c.*211T>C (n.*211T>C) c.144T>C (p.Leu48=) c.477T>C (p.Leu159=) | ClinVar dbSNP |
| 7 | g.117531012T>G | CA457448667 | CFTR | c.387T>G (p.Leu129=) c.*284T>G (n.*284T>G) c.*211T>G (n.*211T>G) c.144T>G (p.Leu48=) c.477T>G (p.Leu159=) | |
| 7 | g.117531012T= | CA1737359510 | CFTR | c.387T= (p.Leu129=) c.*284T= (n.*284T=) c.*211T= (n.*211T=) c.144T= (p.Leu48=) c.477T= (p.Leu159=) | |
| 7 | g.117531013C>A | CA368974576 | CFTR | c.388C>A (p.Leu130Ile) c.*285C>A (n.*285C>A) c.*212C>A (n.*212C>A) c.145C>A (p.Leu49Ile) c.478C>A (p.Leu160Ile) | |
| 7 | g.117531013C= | CA1737359511 | CFTR | c.388C= (p.Leu130=) c.*285C= (n.*285C=) c.*212C= (n.*212C=) c.145C= (p.Leu49=) c.478C= (p.Leu160=) | |
| 7 | g.117531013C>G | CA327329 | CFTR | c.388C>G (p.Leu130Val) c.*285C>G (n.*285C>G) c.*212C>G (n.*212C>G) c.145C>G (p.Leu49Val) c.478C>G (p.Leu160Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117531013C>T | CA368974579 | CFTR | c.388C>T (p.Leu130Phe) c.*285C>T (n.*285C>T) c.*212C>T (n.*212C>T) c.145C>T (p.Leu49Phe) c.478C>T (p.Leu160Phe) | |
| 7 | g.117531014T>A | CA368974583 | CFTR | c.389T>A (p.Leu130His) c.*286T>A (n.*286T>A) c.*213T>A (n.*213T>A) c.146T>A (p.Leu49His) c.479T>A (p.Leu160His) | |
| 7 | g.117531014T>C | CA368974588 | CFTR | c.389T>C (p.Leu130Pro) c.*286T>C (n.*286T>C) c.*213T>C (n.*213T>C) c.146T>C (p.Leu49Pro) c.479T>C (p.Leu160Pro) | ClinVar dbSNP |
| 7 | g.117531014T>G | CA368974586 | CFTR | c.389T>G (p.Leu130Arg) c.*286T>G (n.*286T>G) c.*213T>G (n.*213T>G) c.146T>G (p.Leu49Arg) c.479T>G (p.Leu160Arg) | |
| 7 | g.117531014T= | CA1737359512 | CFTR | c.389T= (p.Leu130=) c.*286T= (n.*286T=) c.*213T= (n.*213T=) c.146T= (p.Leu49=) c.479T= (p.Leu160=) | |
| 7 | g.117531015C>A | CA457448669 | CFTR | c.390C>A (p.Leu130=) c.*287C>A (n.*287C>A) c.*214C>A (n.*214C>A) c.147C>A (p.Leu49=) c.480C>A (p.Leu160=) | |
| 7 | g.117531015C= | CA1737359514 | CFTR | c.390C= (p.Leu130=) c.*287C= (n.*287C=) c.*214C= (n.*214C=) c.147C= (p.Leu49=) c.480C= (p.Leu160=) | |
| 7 | g.117531015C>G | CA457448670 | CFTR | c.390C>G (p.Leu130=) c.*287C>G (n.*287C>G) c.*214C>G (n.*214C>G) c.147C>G (p.Leu49=) c.480C>G (p.Leu160=) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117531015C>T | CA457448671 | CFTR | c.390C>T (p.Leu130=) c.*287C>T (n.*287C>T) c.*214C>T (n.*214C>T) c.147C>T (p.Leu49=) c.480C>T (p.Leu160=) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117531015_117531016delinsCT | CA1737359513 | CFTR | c.390_391delinsCT (p.Leu130=) c.*287_*288delinsCT (n.*287_*288delinsCT) c.*214_*215delinsCT (n.*214_*215delinsCT) c.147_148delinsCT (p.Leu49=) c.480_481delinsCT (p.Leu160=) | |
| 7 | g.117531016T>A | CA368974593 | CFTR | c.391T>A (p.Phe131Ile) c.*288T>A (n.*288T>A) c.*215T>A (n.*215T>A) c.148T>A (p.Phe50Ile) c.481T>A (p.Phe161Ile) | |
| 7 | g.117531016T>C | CA4450715 | CFTR | c.391T>C (p.Phe131Leu) c.*288T>C (n.*288T>C) c.*215T>C (n.*215T>C) c.148T>C (p.Phe50Leu) c.481T>C (p.Phe161Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117531016T>G | CA368974597 | CFTR | c.391T>G (p.Phe131Val) c.*288T>G (n.*288T>G) c.*215T>G (n.*215T>G) c.148T>G (p.Phe50Val) c.481T>G (p.Phe161Val) | |
| 7 | g.117531016T= | CA1737359515 | CFTR | c.391T= (p.Phe131=) c.*288T= (n.*288T=) c.*215T= (n.*215T=) c.148T= (p.Phe50=) c.481T= (p.Phe161=) | |
| 7 | g.117531018del | CA327359 | CFTR | c.393del (p.Phe131LeufsTer3) c.*290del (n.*290del) c.*217del (n.*217del) c.150del (p.Phe50LeufsTer3) c.483del (p.Phe161LeufsTer3) | ClinVar dbSNP |
| 7 | g.117531017T>A | CA368974602 | CFTR | c.392T>A (p.Phe131Tyr) c.*289T>A (n.*289T>A) c.*216T>A (n.*216T>A) c.149T>A (p.Phe50Tyr) c.482T>A (p.Phe161Tyr) | gnomAD v4 |
| 7 | g.117531017T>C | CA368974604 | CFTR | c.392T>C (p.Phe131Ser) c.*289T>C (n.*289T>C) c.*216T>C (n.*216T>C) c.149T>C (p.Phe50Ser) c.482T>C (p.Phe161Ser) | |
| 7 | g.117531017T>G | CA368974606 | CFTR | c.392T>G (p.Phe131Cys) c.*289T>G (n.*289T>G) c.*216T>G (n.*216T>G) c.149T>G (p.Phe50Cys) c.482T>G (p.Phe161Cys) | |
| 7 | g.117531017_117531022delinsTTATTG | CA1737359516 | CFTR | c.392_397delinsTTATTG (p.Phe131=) c.*289_*294delinsTTATTG (n.*289_*294delinsTTATTG) c.*216_*221delinsTTATTG (n.*216_*221delinsTTATTG) c.149_154delinsTTATTG (p.Phe50=) c.482_487delinsTTATTG (p.Phe161=) | |
| 7 | g.117531018T>A | CA368974609 | CFTR | c.393T>A (p.Phe131Leu) c.*290T>A (n.*290T>A) c.*217T>A (n.*217T>A) c.150T>A (p.Phe50Leu) c.483T>A (p.Phe161Leu) | |
| 7 | g.117531018T>C | CA16612013 | CFTR | c.393T>C (p.Phe131=) c.*290T>C (n.*290T>C) c.*217T>C (n.*217T>C) c.150T>C (p.Phe50=) c.483T>C (p.Phe161=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117531018T>G | CA368974612 | CFTR | c.393T>G (p.Phe131Leu) c.*290T>G (n.*290T>G) c.*217T>G (n.*217T>G) c.150T>G (p.Phe50Leu) c.483T>G (p.Phe161Leu) | |
| 7 | g.117531018T= | CA1737359517 | CFTR | c.393T= (p.Phe131=) c.*290T= (n.*290T=) c.*217T= (n.*217T=) c.150T= (p.Phe50=) c.483T= (p.Phe161=) | |
| 7 | g.117531019_117531023del | CA1139660221 | CFTR | c.394_398del (p.Ile132GlufsTer25) c.*291_*295del (n.*291_*295del) c.*218_*222del (n.*218_*222del) c.151_155del (p.Ile51GlufsTer25) c.484_488del (p.Ile162GlufsTer25) | ClinVar dbSNP |
| 7 | g.117531019del | CA2728957964 | CFTR | c.394del (p.Ile132LeufsTer2) c.*291del (n.*291del) c.*218del (n.*218del) c.151del (p.Ile51LeufsTer2) c.484del (p.Ile162LeufsTer2) | |
| 7 | g.117531019A= | CA1737359518 | CFTR | c.394A= (p.Ile132=) c.*291A= (n.*291A=) c.*218A= (n.*218A=) c.151A= (p.Ile51=) c.484A= (p.Ile162=) | |
| 7 | g.117531019A>C | CA368974615 | CFTR | c.394A>C (p.Ile132Leu) c.*291A>C (n.*291A>C) c.*218A>C (n.*218A>C) c.151A>C (p.Ile51Leu) c.484A>C (p.Ile162Leu) | |
| 7 | g.117531019A>G | CA4450716 | CFTR | c.394A>G (p.Ile132Val) c.*291A>G (n.*291A>G) c.*218A>G (n.*218A>G) c.151A>G (p.Ile51Val) c.484A>G (p.Ile162Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117531019A>T | CA368974618 | CFTR | c.394A>T (p.Ile132Phe) c.*291A>T (n.*291A>T) c.*218A>T (n.*218A>T) c.151A>T (p.Ile51Phe) c.484A>T (p.Ile162Phe) | |
| 7 | g.117531019_117531020delinsAT | CA1737359519 | CFTR | c.394_395delinsAT (p.Ile132=) c.*291_*292delinsAT (n.*291_*292delinsAT) c.*218_*219delinsAT (n.*218_*219delinsAT) c.151_152delinsAT (p.Ile51=) c.484_485delinsAT (p.Ile162=) | |
| 7 | g.117531020T>A | CA368974624 | CFTR | c.395T>A (p.Ile132Asn) c.*292T>A (n.*292T>A) c.*219T>A (n.*219T>A) c.152T>A (p.Ile51Asn) c.485T>A (p.Ile162Asn) | |
| 7 | g.117531020T>C | CA368974620 | CFTR | c.395T>C (p.Ile132Thr) c.*292T>C (n.*292T>C) c.*219T>C (n.*219T>C) c.152T>C (p.Ile51Thr) c.485T>C (p.Ile162Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117531020T>G | CA368974622 | CFTR | c.395T>G (p.Ile132Ser) c.*292T>G (n.*292T>G) c.*219T>G (n.*219T>G) c.152T>G (p.Ile51Ser) c.485T>G (p.Ile162Ser) | |
| 7 | g.117531020T= | CA1737359521 | CFTR | c.395T= (p.Ile132=) c.*292T= (n.*292T=) c.*219T= (n.*219T=) c.152T= (p.Ile51=) c.485T= (p.Ile162=) | |
| 7 | g.117531021del | CA1737359520 | CFTR | c.396del (p.Ile132MetfsTer2) c.*293del (n.*293del) c.*220del (n.*220del) c.153del (p.Ile51MetfsTer2) c.486del (p.Ile162MetfsTer2) | ClinVar dbSNP |
| 7 | g.117531021T>A | CA457448674 | CFTR | c.396T>A (p.Ile132=) c.*293T>A (n.*293T>A) c.*220T>A (n.*220T>A) c.153T>A (p.Ile51=) c.486T>A (p.Ile162=) | |
| 7 | g.117531021T>C | CA457448675 | CFTR | c.396T>C (p.Ile132=) c.*293T>C (n.*293T>C) c.*220T>C (n.*220T>C) c.153T>C (p.Ile51=) c.486T>C (p.Ile162=) | ClinVar |
| 7 | g.117531021T>G | CA368974626 | CFTR | c.396T>G (p.Ile132Met) c.*293T>G (n.*293T>G) c.*220T>G (n.*220T>G) c.153T>G (p.Ile51Met) c.486T>G (p.Ile162Met) | gnomAD v4 |
| 7 | g.117531022G>A | CA368974630 | CFTR | c.397G>A (p.Val133Met) c.*294G>A (n.*294G>A) c.*221G>A (n.*221G>A) c.154G>A (p.Val52Met) c.487G>A (p.Val163Met) | |
| 7 | g.117531022G>C | CA368974633 | CFTR | c.397G>C (p.Val133Leu) c.*294G>C (n.*294G>C) c.*221G>C (n.*221G>C) c.154G>C (p.Val52Leu) c.487G>C (p.Val163Leu) | gnomAD v4 |
| 7 | g.117531022G>T | CA368974635 | CFTR | c.397G>T (p.Val133Leu) c.*294G>T (n.*294G>T) c.*221G>T (n.*221G>T) c.154G>T (p.Val52Leu) c.487G>T (p.Val163Leu) | gnomAD v4 |
| 7 | g.117531023T>A | CA368974637 | CFTR | c.398T>A (p.Val133Glu) c.*295T>A (n.*295T>A) c.*222T>A (n.*222T>A) c.155T>A (p.Val52Glu) c.488T>A (p.Val163Glu) | |
| 7 | g.117531023T>C | CA368974639 | CFTR | c.398T>C (p.Val133Ala) c.*295T>C (n.*295T>C) c.*222T>C (n.*222T>C) c.155T>C (p.Val52Ala) c.488T>C (p.Val163Ala) | |
| 7 | g.117531023T>G | CA368974643 | CFTR | c.398T>G (p.Val133Gly) c.*295T>G (n.*295T>G) c.*222T>G (n.*222T>G) c.155T>G (p.Val52Gly) c.488T>G (p.Val163Gly) | |
| 7 | g.117531024G>A | CA457448676 | CFTR | c.399G>A (p.Val133=) c.*296G>A (n.*296G>A) c.*223G>A (n.*223G>A) c.156G>A (p.Val52=) c.489G>A (p.Val163=) | gnomAD v4 |
| 7 | g.117531024G>C | CA457448677 | CFTR | c.399G>C (p.Val133=) c.*296G>C (n.*296G>C) c.*223G>C (n.*223G>C) c.156G>C (p.Val52=) c.489G>C (p.Val163=) | |
| 7 | g.117531024G>T | CA457448678 | CFTR | c.399G>T (p.Val133=) c.*296G>T (n.*296G>T) c.*223G>T (n.*223G>T) c.156G>T (p.Val52=) c.489G>T (p.Val163=) | |
| 7 | g.117531025A>C | CA457448679 | CFTR | c.400A>C (p.Arg134=) c.*297A>C (n.*297A>C) c.*224A>C (n.*224A>C) c.157A>C (p.Arg53=) c.490A>C (p.Arg164=) | ClinVar gnomAD v4 |
| 7 | g.117531025A>G | CA368974645 | CFTR | c.400A>G (p.Arg134Gly) c.*297A>G (n.*297A>G) c.*224A>G (n.*224A>G) c.157A>G (p.Arg53Gly) c.490A>G (p.Arg164Gly) | |
| 7 | g.117531025A>T | CA368974647 | CFTR | c.400A>T (p.Arg134Trp) c.*297A>T (n.*297A>T) c.*224A>T (n.*224A>T) c.157A>T (p.Arg53Trp) c.490A>T (p.Arg164Trp) | |
| 7 | g.117531026G>A | CA368974649 | CFTR | c.401G>A (p.Arg134Lys) c.*298G>A (n.*298G>A) c.*225G>A (n.*225G>A) c.158G>A (p.Arg53Lys) c.491G>A (p.Arg164Lys) | ClinVar dbSNP |
| 7 | g.117531026G>C | CA368974651 | CFTR | c.401G>C (p.Arg134Thr) c.*298G>C (n.*298G>C) c.*225G>C (n.*225G>C) c.158G>C (p.Arg53Thr) c.491G>C (p.Arg164Thr) | |
| 7 | g.117531026G= | CA1737359522 | CFTR | c.401G= (p.Arg134=) c.*298G= (n.*298G=) c.*225G= (n.*225G=) c.158G= (p.Arg53=) c.491G= (p.Arg164=) | |
| 7 | g.117531026G>T | CA368974652 | CFTR | c.401G>T (p.Arg134Met) c.*298G>T (n.*298G>T) c.*225G>T (n.*225G>T) c.158G>T (p.Arg53Met) c.491G>T (p.Arg164Met) | |
| 7 | g.117531027dup | CA913111884 | CFTR | c.402dup (p.Thr135AspfsTer24) c.*299dup (n.*299dup) c.*226dup (n.*226dup) c.159dup (p.Thr54AspfsTer24) c.492dup (p.Thr165AspfsTer24) | |
| 7 | g.117531027G>A | CA457448680 | CFTR | c.402G>A (p.Arg134=) c.*299G>A (n.*299G>A) c.*226G>A (n.*226G>A) c.159G>A (p.Arg53=) c.492G>A (p.Arg164=) | ClinVar gnomAD v4 |
| 7 | g.117531027G>C | CA368974657 | CFTR | c.402G>C (p.Arg134Ser) c.*299G>C (n.*299G>C) c.*226G>C (n.*226G>C) c.159G>C (p.Arg53Ser) c.492G>C (p.Arg164Ser) | |
| 7 | g.117531027G= | CA1737359523 | CFTR | c.402G= (p.Arg134=) c.*299G= (n.*299G=) c.*226G= (n.*226G=) c.159G= (p.Arg53=) c.492G= (p.Arg164=) | |
| 7 | g.117531027G>T | CA368974655 | CFTR | c.402G>T (p.Arg134Ser) c.*299G>T (n.*299G>T) c.*226G>T (n.*226G>T) c.159G>T (p.Arg53Ser) c.492G>T (p.Arg164Ser) | |
| 7 | g.117531028A= | CA1737359524 | CFTR | c.403A= (p.Thr135=) c.*300A= (n.*300A=) c.*227A= (n.*227A=) c.160A= (p.Thr54=) c.493A= (p.Thr165=) | |
| 7 | g.117531028A>C | CA368974660 | CFTR | c.403A>C (p.Thr135Pro) c.*300A>C (n.*300A>C) c.*227A>C (n.*227A>C) c.160A>C (p.Thr54Pro) c.493A>C (p.Thr165Pro) | |
| 7 | g.117531028A>G | CA368974662 | CFTR | c.403A>G (p.Thr135Ala) c.*300A>G (n.*300A>G) c.*227A>G (n.*227A>G) c.160A>G (p.Thr54Ala) c.493A>G (p.Thr165Ala) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117531028A>T | CA4450717 | CFTR | c.403A>T (p.Thr135Ser) c.*300A>T (n.*300A>T) c.*227A>T (n.*227A>T) c.160A>T (p.Thr54Ser) c.493A>T (p.Thr165Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117531030_117531031dup | CA658821271 | CFTR | c.405_406dup (p.Leu136HisfsTer18) c.*302_*303dup (n.*302_*303dup) c.*229_*230dup (n.*229_*230dup) c.162_163dup (p.Leu55HisfsTer18) c.495_496dup (p.Leu166HisfsTer18) | ClinVar dbSNP |
| 7 | g.117531029C>A | CA368974667 | CFTR | c.404C>A (p.Thr135Lys) c.*301C>A (n.*301C>A) c.*228C>A (n.*228C>A) c.161C>A (p.Thr54Lys) c.494C>A (p.Thr165Lys) | |
| 7 | g.117531029C>G | CA368974672 | CFTR | c.404C>G (p.Thr135Arg) c.*301C>G (n.*301C>G) c.*228C>G (n.*228C>G) c.161C>G (p.Thr54Arg) c.494C>G (p.Thr165Arg) | |
| 7 | g.117531029C>T | CA368974674 | CFTR | c.404C>T (p.Thr135Ile) c.*301C>T (n.*301C>T) c.*228C>T (n.*228C>T) c.161C>T (p.Thr54Ile) c.494C>T (p.Thr165Ile) | gnomAD v4 |
| 7 | g.117531030A= | CA1737359525 | CFTR | c.405A= (p.Thr135=) c.*302A= (n.*302A=) c.*229A= (n.*229A=) c.162A= (p.Thr54=) c.495A= (p.Thr165=) | |
| 7 | g.117531030A>C | CA4450718 | CFTR | c.405A>C (p.Thr135=) c.*302A>C (n.*302A>C) c.*229A>C (n.*229A>C) c.162A>C (p.Thr54=) c.495A>C (p.Thr165=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117531030A>G | CA457448682 | CFTR | c.405A>G (p.Thr135=) c.*302A>G (n.*302A>G) c.*229A>G (n.*229A>G) c.162A>G (p.Thr54=) c.495A>G (p.Thr165=) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117531030A>T | CA457448681 | CFTR | c.405A>T (p.Thr135=) c.*302A>T (n.*302A>T) c.*229A>T (n.*229A>T) c.162A>T (p.Thr54=) c.495A>T (p.Thr165=) | |
| 7 | g.117531031C>A | CA368974681 | CFTR | c.406C>A (p.Leu136Met) c.*303C>A (n.*303C>A) c.*230C>A (n.*230C>A) c.163C>A (p.Leu55Met) c.496C>A (p.Leu166Met) | gnomAD v4 |
| 7 | g.117531031C= | CA1737359526 | CFTR | c.406C= (p.Leu136=) c.*303C= (n.*303C=) c.*230C= (n.*230C=) c.163C= (p.Leu55=) c.496C= (p.Leu166=) | |
| 7 | g.117531031C>G | CA368974683 | CFTR | c.406C>G (p.Leu136Val) c.*303C>G (n.*303C>G) c.*230C>G (n.*230C>G) c.163C>G (p.Leu55Val) c.496C>G (p.Leu166Val) | |
| 7 | g.117531031C>T | CA457448683 | CFTR | c.406C>T (p.Leu136=) c.*303C>T (n.*303C>T) c.*230C>T (n.*230C>T) c.163C>T (p.Leu55=) c.496C>T (p.Leu166=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117531032T>A | CA368974685 | CFTR | c.407T>A (p.Leu136Gln) c.*304T>A (n.*304T>A) c.*231T>A (n.*231T>A) c.164T>A (p.Leu55Gln) c.497T>A (p.Leu166Gln) | gnomAD v4 |
| 7 | g.117531032T>C | CA368974686 | CFTR | c.407T>C (p.Leu136Pro) c.*304T>C (n.*304T>C) c.*231T>C (n.*231T>C) c.164T>C (p.Leu55Pro) c.497T>C (p.Leu166Pro) | ClinVar dbSNP |
| 7 | g.117531032T>G | CA368974690 | CFTR | c.407T>G (p.Leu136Arg) c.*304T>G (n.*304T>G) c.*231T>G (n.*231T>G) c.164T>G (p.Leu55Arg) c.497T>G (p.Leu166Arg) | ClinVar dbSNP |
| 7 | g.117531032T= | CA1737359527 | CFTR | c.407T= (p.Leu136=) c.*304T= (n.*304T=) c.*231T= (n.*231T=) c.164T= (p.Leu55=) c.497T= (p.Leu166=) | |
| 7 | g.117531033G>A | CA457448686 | CFTR | c.408G>A (p.Leu136=) c.*305G>A (n.*305G>A) c.*232G>A (n.*232G>A) c.165G>A (p.Leu55=) c.498G>A (p.Leu166=) | dbSNP |
| 7 | g.117531033G>C | CA457448684 | CFTR | c.408G>C (p.Leu136=) c.*305G>C (n.*305G>C) c.*232G>C (n.*232G>C) c.165G>C (p.Leu55=) c.498G>C (p.Leu166=) | ClinVar gnomAD v4 |
| 7 | g.117531033G= | CA1737359528 | CFTR | c.408G= (p.Leu136=) c.*305G= (n.*305G=) c.*232G= (n.*232G=) c.165G= (p.Leu55=) c.498G= (p.Leu166=) | |
| 7 | g.117531033G>T | CA457448685 | CFTR | c.408G>T (p.Leu136=) c.*305G>T (n.*305G>T) c.*232G>T (n.*232G>T) c.165G>T (p.Leu55=) c.498G>T (p.Leu166=) | |
| 7 | g.117531033_117531034delinsGC | CA1737359529 | CFTR | c.408_409delinsGC (p.Leu136=) c.*305_*306delinsGC (n.*305_*306delinsGC) c.*232_*233delinsGC (n.*232_*233delinsGC) c.165_166delinsGC (p.Leu55=) c.498_499delinsGC (p.Leu166=) | |
| 7 | g.117531033_117531037delinsGCTCC | CA1737359530 | CFTR | c.408_412delinsGCTCC (p.Leu136=) c.*305_*309delinsGCTCC (n.*305_*309delinsGCTCC) c.*232_*236delinsGCTCC (n.*232_*236delinsGCTCC) c.165_169delinsGCTCC (p.Leu55=) c.498_502delinsGCTCC (p.Leu166=) | |
| 7 | g.117531034del | CA327397 | CFTR | c.409del (p.Leu137SerfsTer16) c.*306del (n.*306del) c.*233del (n.*233del) c.166del (p.Leu56SerfsTer16) c.499del (p.Leu167SerfsTer16) | ClinVar dbSNP |
| 7 | g.117531034C>A | CA368974700 | CFTR | c.409C>A (p.Leu137Ile) c.*306C>A (n.*306C>A) c.*233C>A (n.*233C>A) c.166C>A (p.Leu56Ile) c.499C>A (p.Leu167Ile) | |
| 7 | g.117531034C>G | CA368974698 | CFTR | c.409C>G (p.Leu137Val) c.*306C>G (n.*306C>G) c.*233C>G (n.*233C>G) c.166C>G (p.Leu56Val) c.499C>G (p.Leu167Val) | |
| 7 | g.117531034C>T | CA368974701 | CFTR | c.409C>T (p.Leu137Phe) c.*306C>T (n.*306C>T) c.*233C>T (n.*233C>T) c.166C>T (p.Leu56Phe) c.499C>T (p.Leu167Phe) | gnomAD v4 COSMIC |
| 7 | g.117531034_117531037del | CA327396 | CFTR | c.409_412del (p.Leu137TyrfsTer15) c.*306_*309del (n.*306_*309del) c.*233_*236del (n.*233_*236del) c.166_169del (p.Leu56TyrfsTer15) c.499_502del (p.Leu167TyrfsTer15) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117531034_117531041delinsCTCCTACA | CA1737359531 | CFTR | c.409_416delinsCTCCTACA (p.Leu137=) c.*306_*313delinsCTCCTACA (n.*306_*313delinsCTCCTACA) c.*233_*240delinsCTCCTACA (n.*233_*240delinsCTCCTACA) c.166_173delinsCTCCTACA (p.Leu56=) c.499_506delinsCTCCTACA (p.Leu167=) | |
| 7 | g.117531035T>A | CA327400 | CFTR | c.410T>A (p.Leu137His) c.*307T>A (n.*307T>A) c.*234T>A (n.*234T>A) c.167T>A (p.Leu56His) c.500T>A (p.Leu167His) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117531035T>C | CA164943766 | CFTR | c.410T>C (p.Leu137Pro) c.*307T>C (n.*307T>C) c.*234T>C (n.*234T>C) c.167T>C (p.Leu56Pro) c.500T>C (p.Leu167Pro) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117531035T>G | CA327402 | CFTR | c.410T>G (p.Leu137Arg) c.*307T>G (n.*307T>G) c.*234T>G (n.*234T>G) c.167T>G (p.Leu56Arg) c.500T>G (p.Leu167Arg) | dbSNP |
| 7 | g.117531035T= | CA1737359532 | CFTR | c.410T= (p.Leu137=) c.*307T= (n.*307T=) c.*234T= (n.*234T=) c.167T= (p.Leu56=) c.500T= (p.Leu167=) | |
| 7 | g.117531035_117531041del | CA915945472 | CFTR | c.410_416del (p.Leu137ProfsTer14) c.*307_*313del (n.*307_*313del) c.*234_*240del (n.*234_*240del) c.167_173del (p.Leu56ProfsTer14) c.500_506del (p.Leu167ProfsTer14) | ClinVar dbSNP |
| 7 | g.117531036C>A | CA457448687 | CFTR | c.411C>A (p.Leu137=) c.*308C>A (n.*308C>A) c.*235C>A (n.*235C>A) c.168C>A (p.Leu56=) c.501C>A (p.Leu167=) | |
| 7 | g.117531036C= | CA1737359533 | CFTR | c.411C= (p.Leu137=) c.*308C= (n.*308C=) c.*235C= (n.*235C=) c.168C= (p.Leu56=) c.501C= (p.Leu167=) | |
| 7 | g.117531036C>G | CA457448688 | CFTR | c.411C>G (p.Leu137=) c.*308C>G (n.*308C>G) c.*235C>G (n.*235C>G) c.168C>G (p.Leu56=) c.501C>G (p.Leu167=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117531036C>T | CA457448689 | CFTR | c.411C>T (p.Leu137=) c.*308C>T (n.*308C>T) c.*235C>T (n.*235C>T) c.168C>T (p.Leu56=) c.501C>T (p.Leu167=) | ClinVar gnomAD v4 |
| 7 | g.117531037C>A | CA368974717 | CFTR | c.412C>A (p.Leu138Ile) c.*309C>A (n.*309C>A) c.*236C>A (n.*236C>A) c.169C>A (p.Leu57Ile) c.502C>A (p.Leu168Ile) | |
| 7 | g.117531037C= | CA1737359534 | CFTR | c.412C= (p.Leu138=) c.*309C= (n.*309C=) c.*236C= (n.*236C=) c.169C= (p.Leu57=) c.502C= (p.Leu168=) | |
| 7 | g.117531037C>G | CA368974718 | CFTR | c.412C>G (p.Leu138Val) c.*309C>G (n.*309C>G) c.*236C>G (n.*236C>G) c.169C>G (p.Leu57Val) c.502C>G (p.Leu168Val) | |
| 7 | g.117531037C>T | CA457448690 | CFTR | c.412C>T (p.Leu138=) c.*309C>T (n.*309C>T) c.*236C>T (n.*236C>T) c.169C>T (p.Leu57=) c.502C>T (p.Leu168=) | |
| 7 | g.117531038_117531040dup | CA327427 | CFTR | c.413_415dup (p.Leu138_His139insLeu) c.*310_*312dup (n.*310_*312dup) c.*237_*239dup (n.*237_*239dup) c.170_172dup (p.Leu57_His58insLeu) c.503_505dup (p.Leu168_His169insLeu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117531037_117531038insACT | CA327416 | CFTR | c.412_413insACT (p.Leu137_Leu138insHis) c.*309_*310insACT (n.*309_*310insACT) c.*236_*237insACT (n.*236_*237insACT) c.169_170insACT (p.Leu56_Leu57insHis) c.502_503insACT (p.Leu167_Leu168insHis) | ClinVar dbSNP |
| 7 | g.117531038T>A | CA368974724 | CFTR | c.413T>A (p.Leu138Gln) c.*310T>A (n.*310T>A) c.*237T>A (n.*237T>A) c.170T>A (p.Leu57Gln) c.503T>A (p.Leu168Gln) | |
| 7 | g.117531038T>C | CA164943773 | CFTR | c.413T>C (p.Leu138Pro) c.*310T>C (n.*310T>C) c.*237T>C (n.*237T>C) c.170T>C (p.Leu57Pro) c.503T>C (p.Leu168Pro) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117531038T>G | CA368974721 | CFTR | c.413T>G (p.Leu138Arg) c.*310T>G (n.*310T>G) c.*237T>G (n.*237T>G) c.170T>G (p.Leu57Arg) c.503T>G (p.Leu168Arg) | gnomAD v4 |
| 7 | g.117531038T= | CA1737359539 | CFTR | c.413T= (p.Leu138=) c.*310T= (n.*310T=) c.*237T= (n.*237T=) c.170T= (p.Leu57=) c.503T= (p.Leu168=) | |
| 7 | g.117531039A>C | CA457448693 | CFTR | c.414A>C (p.Leu138=) c.*311A>C (n.*311A>C) c.*238A>C (n.*238A>C) c.171A>C (p.Leu57=) c.504A>C (p.Leu168=) | |
| 7 | g.117531039A>G | CA457448691 | CFTR | c.414A>G (p.Leu138=) c.*311A>G (n.*311A>G) c.*238A>G (n.*238A>G) c.171A>G (p.Leu57=) c.504A>G (p.Leu168=) | |
| 7 | g.117531039A>T | CA457448692 | CFTR | c.414A>T (p.Leu138=) c.*311A>T (n.*311A>T) c.*238A>T (n.*238A>T) c.171A>T (p.Leu57=) c.504A>T (p.Leu168=) | |
| 7 | g.117531040C>A | CA368974727 | CFTR | c.415C>A (p.His139Asn) c.*312C>A (n.*312C>A) c.*239C>A (n.*239C>A) c.172C>A (p.His58Asn) c.505C>A (p.His169Asn) | |
| 7 | g.117531040C= | CA1737359545 | CFTR | c.415C= (p.His139=) c.*312C= (n.*312C=) c.*239C= (n.*239C=) c.172C= (p.His58=) c.505C= (p.His169=) | |
| 7 | g.117531040C>G | CA368974729 | CFTR | c.415C>G (p.His139Asp) c.*312C>G (n.*312C>G) c.*239C>G (n.*239C>G) c.172C>G (p.His58Asp) c.505C>G (p.His169Asp) | gnomAD v4 |
| 7 | g.117531040C>T | CA368974732 | CFTR | c.415C>T (p.His139Tyr) c.*312C>T (n.*312C>T) c.*239C>T (n.*239C>T) c.172C>T (p.His58Tyr) c.505C>T (p.His169Tyr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117531040dup | CA2684617327 | CFTR | c.415dup (p.His139ProfsTer20) c.*312dup (n.*312dup) c.*239dup (n.*239dup) c.172dup (p.His58ProfsTer20) c.505dup (p.His169ProfsTer20) | gnomAD v4 |
| 7 | g.117531040_117531041insGA | CA327429 | CFTR | c.415_416insGA (p.His139ArgfsTer15) c.*312_*313insGA (n.*312_*313insGA) c.*239_*240insGA (n.*239_*240insGA) c.172_173insGA (p.His58ArgfsTer15) c.505_506insGA (p.His169ArgfsTer15) | dbSNP |
| 7 | g.117531040_117531041insTA | CA2695208297 | CFTR | c.415_416insTA (p.His139LeufsTer15) c.*312_*313insTA (n.*312_*313insTA) c.*239_*240insTA (n.*239_*240insTA) c.172_173insTA (p.His58LeufsTer15) c.505_506insTA (p.His169LeufsTer15) | |
| 7 | g.117531041A= | CA1737359552 | CFTR | c.416A= (p.His139=) c.*313A= (n.*313A=) c.*240A= (n.*240A=) c.173A= (p.His58=) c.506A= (p.His169=) | |
| 7 | g.117531041A>C | CA368974738 | CFTR | c.416A>C (p.His139Pro) c.*313A>C (n.*313A>C) c.*240A>C (n.*240A>C) c.173A>C (p.His58Pro) c.506A>C (p.His169Pro) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117531041A>G | CA327434 | CFTR | c.416A>G (p.His139Arg) c.*313A>G (n.*313A>G) c.*240A>G (n.*240A>G) c.173A>G (p.His58Arg) c.506A>G (p.His169Arg) | ClinVar dbSNP |
| 7 | g.117531041A>T | CA327435 | CFTR | c.416A>T (p.His139Leu) c.*313A>T (n.*313A>T) c.*240A>T (n.*240A>T) c.173A>T (p.His58Leu) c.506A>T (p.His169Leu) | ClinVar dbSNP |
| 7 | g.117531042C>A | CA368974741 | CFTR | c.417C>A (p.His139Gln) c.*314C>A (n.*314C>A) c.*241C>A (n.*241C>A) c.174C>A (p.His58Gln) c.507C>A (p.His169Gln) | |
| 7 | g.117531042C= | CA1737359565 | CFTR | c.417C= (p.His139=) c.*314C= (n.*314C=) c.*241C= (n.*241C=) c.174C= (p.His58=) c.507C= (p.His169=) | |
| 7 | g.117531042C>G | CA368974745 | CFTR | c.417C>G (p.His139Gln) c.*314C>G (n.*314C>G) c.*241C>G (n.*241C>G) c.174C>G (p.His58Gln) c.507C>G (p.His169Gln) | |
| 7 | g.117531042C>T | CA4450719 | CFTR | c.417C>T (p.His139=) c.*314C>T (n.*314C>T) c.*241C>T (n.*241C>T) c.174C>T (p.His58=) c.507C>T (p.His169=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117531043C>A | CA368974750 | CFTR | c.418C>A (p.Pro140Thr) c.*315C>A (n.*315C>A) c.*242C>A (n.*242C>A) c.175C>A (p.Pro59Thr) c.508C>A (p.Pro170Thr) | |
| 7 | g.117531043C= | CA1737359568 | CFTR | c.418C= (p.Pro140=) c.*315C= (n.*315C=) c.*242C= (n.*242C=) c.175C= (p.Pro59=) c.508C= (p.Pro170=) | |
| 7 | g.117531043C>G | CA368974752 | CFTR | c.418C>G (p.Pro140Ala) c.*315C>G (n.*315C>G) c.*242C>G (n.*242C>G) c.175C>G (p.Pro59Ala) c.508C>G (p.Pro170Ala) | ClinVar |
| 7 | g.117531043C>T | CA327438 | CFTR | c.418C>T (p.Pro140Ser) c.*315C>T (n.*315C>T) c.*242C>T (n.*242C>T) c.175C>T (p.Pro59Ser) c.508C>T (p.Pro170Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117531044C>A | CA368974753 | CFTR | c.419C>A (p.Pro140Gln) c.*316C>A (n.*316C>A) c.*243C>A (n.*243C>A) c.176C>A (p.Pro59Gln) c.509C>A (p.Pro170Gln) | dbSNP |
| 7 | g.117531044C= | CA1737359574 | CFTR | c.419C= (p.Pro140=) c.*316C= (n.*316C=) c.*243C= (n.*243C=) c.176C= (p.Pro59=) c.509C= (p.Pro170=) | |
| 7 | g.117531044C>G | CA4450720 | CFTR | c.419C>G (p.Pro140Arg) c.*316C>G (n.*316C>G) c.*243C>G (n.*243C>G) c.176C>G (p.Pro59Arg) c.509C>G (p.Pro170Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117531044C>T | CA327444 | CFTR | c.419C>T (p.Pro140Leu) c.*316C>T (n.*316C>T) c.*243C>T (n.*243C>T) c.176C>T (p.Pro59Leu) c.509C>T (p.Pro170Leu) | ClinVar dbSNP COSMIC |