OUTAGE/INTERRUPTION NOTICE:2024-06-14T21:00:00-0400 — 2024-06-17T08:00:00-0400
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117535281_117538553del | CA2580076362 | CFTR | c.613_870-1547del c.*510_*767-1547del c.*437_*694-1547del c.370_627-1547del c.523_780-1547del c.703_960-1547del | ClinVar |
| 7 | g.117536562G>A | CA368977345 | CFTR | c.758G>A (p.Gly253Glu) c.*655G>A (n.*655G>A) c.*582G>A (n.*582G>A) c.515G>A (p.Gly172Glu) c.668G>A (p.Gly223Glu) c.848G>A (p.Gly283Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117536562G>C | CA368977346 | CFTR | c.758G>C (p.Gly253Ala) c.*655G>C (n.*655G>C) c.*582G>C (n.*582G>C) c.515G>C (p.Gly172Ala) c.668G>C (p.Gly223Ala) c.848G>C (p.Gly283Ala) | |
| 7 | g.117536562G= | CA1737326997 | CFTR | c.758G= (p.Gly253=) c.*655G= (n.*655G=) c.*582G= (n.*582G=) c.515G= (p.Gly172=) c.668G= (p.Gly223=) c.848G= (p.Gly283=) | |
| 7 | g.117536562G>T | CA368977347 | CFTR | c.758G>T (p.Gly253Val) c.*655G>T (n.*655G>T) c.*582G>T (n.*582G>T) c.515G>T (p.Gly172Val) c.668G>T (p.Gly223Val) c.848G>T (p.Gly283Val) | gnomAD v4 |
| 7 | g.117536563G>A | CA164946480 | CFTR | c.759G>A (p.Gly253=) c.*656G>A (n.*656G>A) c.*583G>A (n.*583G>A) c.516G>A (p.Gly172=) c.669G>A (p.Gly223=) c.849G>A (p.Gly283=) | ClinVar dbSNP gnomAD v2 |
| 7 | g.117536563G>C | CA457227329 | CFTR | c.759G>C (p.Gly253=) c.*656G>C (n.*656G>C) c.*583G>C (n.*583G>C) c.516G>C (p.Gly172=) c.669G>C (p.Gly223=) c.849G>C (p.Gly283=) | |
| 7 | g.117536563G= | CA1737326999 | CFTR | c.759G= (p.Gly253=) c.*656G= (n.*656G=) c.*583G= (n.*583G=) c.516G= (p.Gly172=) c.669G= (p.Gly223=) c.849G= (p.Gly283=) | |
| 7 | g.117536563G>T | CA457227328 | CFTR | c.759G>T (p.Gly253=) c.*656G>T (n.*656G>T) c.*583G>T (n.*583G>T) c.516G>T (p.Gly172=) c.669G>T (p.Gly223=) c.849G>T (p.Gly283=) | gnomAD v4 |
| 7 | g.117536564A>C | CA368977350 | CFTR | c.760A>C (p.Lys254Gln) c.*657A>C (n.*657A>C) c.*584A>C (n.*584A>C) c.517A>C (p.Lys173Gln) c.670A>C (p.Lys224Gln) c.850A>C (p.Lys284Gln) | |
| 7 | g.117536564A>G | CA368977349 | CFTR | c.760A>G (p.Lys254Glu) c.*657A>G (n.*657A>G) c.*584A>G (n.*584A>G) c.517A>G (p.Lys173Glu) c.670A>G (p.Lys224Glu) c.850A>G (p.Lys284Glu) | |
| 7 | g.117536564A>T | CA368977348 | CFTR | c.760A>T (p.Lys254Ter) c.*657A>T (n.*657A>T) c.*584A>T (n.*584A>T) c.517A>T (p.Lys173Ter) c.670A>T (p.Lys224Ter) c.850A>T (p.Lys284Ter) | |
| 7 | g.117536565del | CA2573052801 | CFTR | c.761del (p.Lys254ArgfsTer7) c.*658del (n.*658del) c.*585del (n.*585del) c.518del (p.Lys173ArgfsTer7) c.671del (p.Lys224ArgfsTer7) c.851del (p.Lys284ArgfsTer7) | ClinVar dbSNP |
| 7 | g.117536565A>C | CA368977351 | CFTR | c.761A>C (p.Lys254Thr) c.*658A>C (n.*658A>C) c.*585A>C (n.*585A>C) c.518A>C (p.Lys173Thr) c.671A>C (p.Lys224Thr) c.851A>C (p.Lys284Thr) | |
| 7 | g.117536565A>G | CA368977352 | CFTR | c.761A>G (p.Lys254Arg) c.*658A>G (n.*658A>G) c.*585A>G (n.*585A>G) c.518A>G (p.Lys173Arg) c.671A>G (p.Lys224Arg) c.851A>G (p.Lys284Arg) | gnomAD v4 |
| 7 | g.117536565A>T | CA368977353 | CFTR | c.761A>T (p.Lys254Met) c.*658A>T (n.*658A>T) c.*585A>T (n.*585A>T) c.518A>T (p.Lys173Met) c.671A>T (p.Lys224Met) c.851A>T (p.Lys284Met) | |
| 7 | g.117536566G>A | CA457227330 | CFTR | c.762G>A (p.Lys254=) c.*659G>A (n.*659G>A) c.*586G>A (n.*586G>A) c.519G>A (p.Lys173=) c.672G>A (p.Lys224=) c.852G>A (p.Lys284=) | |
| 7 | g.117536566G>C | CA368977354 | CFTR | c.762G>C (p.Lys254Asn) c.*659G>C (n.*659G>C) c.*586G>C (n.*586G>C) c.519G>C (p.Lys173Asn) c.672G>C (p.Lys224Asn) c.852G>C (p.Lys284Asn) | |
| 7 | g.117536566G>T | CA368977355 | CFTR | c.762G>T (p.Lys254Asn) c.*659G>T (n.*659G>T) c.*586G>T (n.*586G>T) c.519G>T (p.Lys173Asn) c.672G>T (p.Lys224Asn) c.852G>T (p.Lys284Asn) | gnomAD v4 |
| 7 | g.117536567A= | CA1737327002 | CFTR | c.763A= (p.Ile255=) c.*660A= (n.*660A=) c.*587A= (n.*587A=) c.520A= (p.Ile174=) c.673A= (p.Ile225=) c.853A= (p.Ile285=) | |
| 7 | g.117536567A>C | CA368977356 | CFTR | c.763A>C (p.Ile255Leu) c.*660A>C (n.*660A>C) c.*587A>C (n.*587A>C) c.520A>C (p.Ile174Leu) c.673A>C (p.Ile225Leu) c.853A>C (p.Ile285Leu) | |
| 7 | g.117536567A>G | CA368977357 | CFTR | c.763A>G (p.Ile255Val) c.*660A>G (n.*660A>G) c.*587A>G (n.*587A>G) c.520A>G (p.Ile174Val) c.673A>G (p.Ile225Val) c.853A>G (p.Ile285Val) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117536567A>T | CA368977358 | CFTR | c.763A>T (p.Ile255Phe) c.*660A>T (n.*660A>T) c.*587A>T (n.*587A>T) c.520A>T (p.Ile174Phe) c.673A>T (p.Ile225Phe) c.853A>T (p.Ile285Phe) | |
| 7 | g.117536568del | CA2697557573 | CFTR | c.764del (p.Ile255ThrfsTer6) c.*661del (n.*661del) c.*588del (n.*588del) c.521del (p.Ile174ThrfsTer6) c.674del (p.Ile225ThrfsTer6) c.854del (p.Ile285ThrfsTer6) | ClinVar |
| 7 | g.117536568T>A | CA4450828 | CFTR | c.764T>A (p.Ile255Asn) c.*661T>A (n.*661T>A) c.*588T>A (n.*588T>A) c.521T>A (p.Ile174Asn) c.674T>A (p.Ile225Asn) c.854T>A (p.Ile285Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117536568T>C | CA368977359 | CFTR | c.764T>C (p.Ile255Thr) c.*661T>C (n.*661T>C) c.*588T>C (n.*588T>C) c.521T>C (p.Ile174Thr) c.674T>C (p.Ile225Thr) c.854T>C (p.Ile285Thr) | gnomAD v4 |
| 7 | g.117536568T>G | CA368977360 | CFTR | c.764T>G (p.Ile255Ser) c.*661T>G (n.*661T>G) c.*588T>G (n.*588T>G) c.521T>G (p.Ile174Ser) c.674T>G (p.Ile225Ser) c.854T>G (p.Ile285Ser) | |
| 7 | g.117536568T= | CA1737327004 | CFTR | c.764T= (p.Ile255=) c.*661T= (n.*661T=) c.*588T= (n.*588T=) c.521T= (p.Ile174=) c.674T= (p.Ile225=) c.854T= (p.Ile285=) | |
| 7 | g.117536569C>A | CA457227332 | CFTR | c.765C>A (p.Ile255=) c.*662C>A (n.*662C>A) c.*589C>A (n.*589C>A) c.522C>A (p.Ile174=) c.675C>A (p.Ile225=) c.855C>A (p.Ile285=) | |
| 7 | g.117536569C= | CA1737327007 | CFTR | c.765C= (p.Ile255=) c.*662C= (n.*662C=) c.*589C= (n.*589C=) c.522C= (p.Ile174=) c.675C= (p.Ile225=) c.855C= (p.Ile285=) | |
| 7 | g.117536569C>G | CA368977361 | CFTR | c.765C>G (p.Ile255Met) c.*662C>G (n.*662C>G) c.*589C>G (n.*589C>G) c.522C>G (p.Ile174Met) c.675C>G (p.Ile225Met) c.855C>G (p.Ile285Met) | ClinVar gnomAD v4 |
| 7 | g.117536569C>T | CA457227333 | CFTR | c.765C>T (p.Ile255=) c.*662C>T (n.*662C>T) c.*589C>T (n.*589C>T) c.522C>T (p.Ile174=) c.675C>T (p.Ile225=) c.855C>T (p.Ile285=) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 7 | g.117536570A= | CA1737327012 | CFTR | c.766A= (p.Ser256=) c.*663A= (n.*663A=) c.*590A= (n.*590A=) c.523A= (p.Ser175=) c.676A= (p.Ser226=) c.856A= (p.Ser286=) | |
| 7 | g.117536570A>C | CA368977363 | CFTR | c.766A>C (p.Ser256Arg) c.*663A>C (n.*663A>C) c.*590A>C (n.*590A>C) c.523A>C (p.Ser175Arg) c.676A>C (p.Ser226Arg) c.856A>C (p.Ser286Arg) | |
| 7 | g.117536570A>G | CA4450829 | CFTR | c.766A>G (p.Ser256Gly) c.*663A>G (n.*663A>G) c.*590A>G (n.*590A>G) c.523A>G (p.Ser175Gly) c.676A>G (p.Ser226Gly) c.856A>G (p.Ser286Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117536570A>T | CA368977362 | CFTR | c.766A>T (p.Ser256Cys) c.*663A>T (n.*663A>T) c.*590A>T (n.*590A>T) c.523A>T (p.Ser175Cys) c.676A>T (p.Ser226Cys) c.856A>T (p.Ser286Cys) | |
| 7 | g.117536571G>A | CA368977364 | CFTR | c.767G>A (p.Ser256Asn) c.*664G>A (n.*664G>A) c.*591G>A (n.*591G>A) c.524G>A (p.Ser175Asn) c.677G>A (p.Ser226Asn) c.857G>A (p.Ser286Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117536571G>C | CA368977365 | CFTR | c.767G>C (p.Ser256Thr) c.*664G>C (n.*664G>C) c.*591G>C (n.*591G>C) c.524G>C (p.Ser175Thr) c.677G>C (p.Ser226Thr) c.857G>C (p.Ser286Thr) | |
| 7 | g.117536571G= | CA1737327027 | CFTR | c.767G= (p.Ser256=) c.*664G= (n.*664G=) c.*591G= (n.*591G=) c.524G= (p.Ser175=) c.677G= (p.Ser226=) c.857G= (p.Ser286=) | |
| 7 | g.117536571G>T | CA368977366 | CFTR | c.767G>T (p.Ser256Ile) c.*664G>T (n.*664G>T) c.*591G>T (n.*591G>T) c.524G>T (p.Ser175Ile) c.677G>T (p.Ser226Ile) c.857G>T (p.Ser286Ile) | |
| 7 | g.117536572T>A | CA368977367 | CFTR | c.768T>A (p.Ser256Arg) c.*665T>A (n.*665T>A) c.*592T>A (n.*592T>A) c.525T>A (p.Ser175Arg) c.678T>A (p.Ser226Arg) c.858T>A (p.Ser286Arg) | |
| 7 | g.117536572T>C | CA457227334 | CFTR | c.768T>C (p.Ser256=) c.*665T>C (n.*665T>C) c.*592T>C (n.*592T>C) c.525T>C (p.Ser175=) c.678T>C (p.Ser226=) c.858T>C (p.Ser286=) | ClinVar dbSNP |
| 7 | g.117536572T>G | CA368977368 | CFTR | c.768T>G (p.Ser256Arg) c.*665T>G (n.*665T>G) c.*592T>G (n.*592T>G) c.525T>G (p.Ser175Arg) c.678T>G (p.Ser226Arg) c.858T>G (p.Ser286Arg) | |
| 7 | g.117536573G>A | CA368977369 | CFTR | c.769G>A (p.Glu257Lys) c.*666G>A (n.*666G>A) c.*593G>A (n.*593G>A) c.526G>A (p.Glu176Lys) c.679G>A (p.Glu227Lys) c.859G>A (p.Glu287Lys) | |
| 7 | g.117536573G>C | CA368977370 | CFTR | c.769G>C (p.Glu257Gln) c.*666G>C (n.*666G>C) c.*593G>C (n.*593G>C) c.526G>C (p.Glu176Gln) c.679G>C (p.Glu227Gln) c.859G>C (p.Glu287Gln) | |
| 7 | g.117536573G>T | CA368977371 | CFTR | c.769G>T (p.Glu257Ter) c.*666G>T (n.*666G>T) c.*593G>T (n.*593G>T) c.526G>T (p.Glu176Ter) c.679G>T (p.Glu227Ter) c.859G>T (p.Glu287Ter) | ClinVar |
| 7 | g.117536574A= | CA1737327034 | CFTR | c.770A= (p.Glu257=) c.*667A= (n.*667A=) c.*594A= (n.*594A=) c.527A= (p.Glu176=) c.680A= (p.Glu227=) c.860A= (p.Glu287=) | |
| 7 | g.117536574A>C | CA4450830 | CFTR | c.770A>C (p.Glu257Ala) c.*667A>C (n.*667A>C) c.*594A>C (n.*594A>C) c.527A>C (p.Glu176Ala) c.680A>C (p.Glu227Ala) c.860A>C (p.Glu287Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117536574A>G | CA368977372 | CFTR | c.770A>G (p.Glu257Gly) c.*667A>G (n.*667A>G) c.*594A>G (n.*594A>G) c.527A>G (p.Glu176Gly) c.680A>G (p.Glu227Gly) c.860A>G (p.Glu287Gly) | ClinVar gnomAD v4 |
| 7 | g.117536574A>T | CA368977373 | CFTR | c.770A>T (p.Glu257Val) c.*667A>T (n.*667A>T) c.*594A>T (n.*594A>T) c.527A>T (p.Glu176Val) c.680A>T (p.Glu227Val) c.860A>T (p.Glu287Val) | |
| 7 | g.117536576del | CA2580076376 | CFTR | c.772del (p.Arg258AspfsTer3) c.*669del (n.*669del) c.*596del (n.*596del) c.529del (p.Arg177AspfsTer3) c.682del (p.Arg228AspfsTer3) c.862del (p.Arg288AspfsTer3) | ClinVar gnomAD v4 |
| 7 | g.117536575A>C | CA368977374 | CFTR | c.771A>C (p.Glu257Asp) c.*668A>C (n.*668A>C) c.*595A>C (n.*595A>C) c.528A>C (p.Glu176Asp) c.681A>C (p.Glu227Asp) c.861A>C (p.Glu287Asp) | |
| 7 | g.117536575A>G | CA457227336 | CFTR | c.771A>G (p.Glu257=) c.*668A>G (n.*668A>G) c.*595A>G (n.*595A>G) c.528A>G (p.Glu176=) c.681A>G (p.Glu227=) c.861A>G (p.Glu287=) | |
| 7 | g.117536575A>T | CA368977375 | CFTR | c.771A>T (p.Glu257Asp) c.*668A>T (n.*668A>T) c.*595A>T (n.*595A>T) c.528A>T (p.Glu176Asp) c.681A>T (p.Glu227Asp) c.861A>T (p.Glu287Asp) | |
| 7 | g.117536576A= | CA1737327040 | CFTR | c.772A= (p.Arg258=) c.*669A= (n.*669A=) c.*596A= (n.*596A=) c.529A= (p.Arg177=) c.682A= (p.Arg228=) c.862A= (p.Arg288=) | |
| 7 | g.117536576A>C | CA457227337 | CFTR | c.772A>C (p.Arg258=) c.*669A>C (n.*669A>C) c.*596A>C (n.*596A>C) c.529A>C (p.Arg177=) c.682A>C (p.Arg228=) c.862A>C (p.Arg288=) | |
| 7 | g.117536576A>G | CA327648 | CFTR | c.772A>G (p.Arg258Gly) c.*669A>G (n.*669A>G) c.*596A>G (n.*596A>G) c.529A>G (p.Arg177Gly) c.682A>G (p.Arg228Gly) c.862A>G (p.Arg288Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117536576A>T | CA368977376 | CFTR | c.772A>T (p.Arg258Ter) c.*669A>T (n.*669A>T) c.*596A>T (n.*596A>T) c.529A>T (p.Arg177Ter) c.682A>T (p.Arg228Ter) c.862A>T (p.Arg288Ter) | |
| 7 | g.117536576_117536577delinsAG | CA1737327044 | CFTR | c.772_773delinsAG (p.Arg258=) c.*669_*670delinsAG (n.*669_*670delinsAG) c.*596_*597delinsAG (n.*596_*597delinsAG) c.529_530delinsAG (p.Arg177=) c.682_683delinsAG (p.Arg228=) c.862_863delinsAG (p.Arg288=) | |
| 7 | g.117536577del | CA327649 | CFTR | c.773del (p.Arg258AsnfsTer3) c.*670del (n.*670del) c.*597del (n.*597del) c.530del (p.Arg177AsnfsTer3) c.683del (p.Arg228AsnfsTer3) c.863del (p.Arg288AsnfsTer3) | ClinVar dbSNP |
| 7 | g.117536577G>A | CA368977377 | CFTR | c.773G>A (p.Arg258Lys) c.*670G>A (n.*670G>A) c.*597G>A (n.*597G>A) c.530G>A (p.Arg177Lys) c.683G>A (p.Arg228Lys) c.863G>A (p.Arg288Lys) | ClinVar dbSNP |
| 7 | g.117536577G>C | CA368977378 | CFTR | c.773G>C (p.Arg258Thr) c.*670G>C (n.*670G>C) c.*597G>C (n.*597G>C) c.530G>C (p.Arg177Thr) c.683G>C (p.Arg228Thr) c.863G>C (p.Arg288Thr) | |
| 7 | g.117536577G= | CA1737327054 | CFTR | c.773G= (p.Arg258=) c.*670G= (n.*670G=) c.*597G= (n.*597G=) c.530G= (p.Arg177=) c.683G= (p.Arg228=) c.863G= (p.Arg288=) | |
| 7 | g.117536577G>T | CA4450831 | CFTR | c.773G>T (p.Arg258Ile) c.*670G>T (n.*670G>T) c.*597G>T (n.*597G>T) c.530G>T (p.Arg177Ile) c.683G>T (p.Arg228Ile) c.863G>T (p.Arg288Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117536579_117536585del | CA2684617823 | CFTR | c.775_781del (p.Val260ProfsTer4) c.*672_*678del (n.*672_*678del) c.*599_*605del (n.*599_*605del) c.532_538del (p.Val179ProfsTer4) c.685_691del (p.Val230ProfsTer4) c.865_871del (p.Val290ProfsTer4) | gnomAD v4 |
| 7 | g.117536578A= | CA1737327062 | CFTR | c.774A= (p.Arg258=) c.*671A= (n.*671A=) c.*598A= (n.*598A=) c.531A= (p.Arg177=) c.684A= (p.Arg228=) c.864A= (p.Arg288=) | |
| 7 | g.117536578A>C | CA368977380 | CFTR | c.774A>C (p.Arg258Ser) c.*671A>C (n.*671A>C) c.*598A>C (n.*598A>C) c.531A>C (p.Arg177Ser) c.684A>C (p.Arg228Ser) c.864A>C (p.Arg288Ser) | |
| 7 | g.117536578A>G | CA457227341 | CFTR | c.774A>G (p.Arg258=) c.*671A>G (n.*671A>G) c.*598A>G (n.*598A>G) c.531A>G (p.Arg177=) c.684A>G (p.Arg228=) c.864A>G (p.Arg288=) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117536578A>T | CA368977379 | CFTR | c.774A>T (p.Arg258Ser) c.*671A>T (n.*671A>T) c.*598A>T (n.*598A>T) c.531A>T (p.Arg177Ser) c.684A>T (p.Arg228Ser) c.864A>T (p.Arg288Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117536578_117536579delinsAC | CA1737327060 | CFTR | c.774_775delinsAC (p.Arg258=) c.*671_*672delinsAC (n.*671_*672delinsAC) c.*598_*599delinsAC (n.*598_*599delinsAC) c.531_532delinsAC (p.Arg177=) c.684_685delinsAC (p.Arg228=) c.864_865delinsAC (p.Arg288=) | |
| 7 | g.117536579C>A | CA368977381 | CFTR | c.775C>A (p.Leu259Ile) c.*672C>A (n.*672C>A) c.*599C>A (n.*599C>A) c.532C>A (p.Leu178Ile) c.685C>A (p.Leu229Ile) c.865C>A (p.Leu289Ile) | |
| 7 | g.117536579C= | CA1737327077 | CFTR | c.775C= (p.Leu259=) c.*672C= (n.*672C=) c.*599C= (n.*599C=) c.532C= (p.Leu178=) c.685C= (p.Leu229=) c.865C= (p.Leu289=) | |
| 7 | g.117536579C>G | CA4450833 | CFTR | c.775C>G (p.Leu259Val) c.*672C>G (n.*672C>G) c.*599C>G (n.*599C>G) c.532C>G (p.Leu178Val) c.685C>G (p.Leu229Val) c.865C>G (p.Leu289Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117536579C>T | CA4450832 | CFTR | c.775C>T (p.Leu259Phe) c.*672C>T (n.*672C>T) c.*599C>T (n.*599C>T) c.532C>T (p.Leu178Phe) c.685C>T (p.Leu229Phe) c.865C>T (p.Leu289Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117536579delinsTCTTCCTCAGATTCATTGTGATTACCTCA | CA327650 | CFTR | c.775delinsTCTTCCTCAGATTCATTGTGATTACCTCA (p.Leu259SerfsTer7) c.*672delinsTCTTCCTCAGATTCATTGTGATTACCTCA (n.*672delinsTCTTCCTCAGATTCATTGTGATTACCTCA) c.*599delinsTCTTCCTCAGATTCATTGTGATTACCTCA (n.*599delinsTCTTCCTCAGATTCATTGTGATTACCTCA) c.532delinsTCTTCCTCAGATTCATTGTGATTACCTCA (p.Leu178SerfsTer7) c.685delinsTCTTCCTCAGATTCATTGTGATTACCTCA (p.Leu229SerfsTer7) c.865delinsTCTTCCTCAGATTCATTGTGATTACCTCA (p.Leu289SerfsTer7) | dbSNP |
| 7 | g.117536579_117536580delinsCT | CA1737327071 | CFTR | c.775_776delinsCT (p.Leu259=) c.*672_*673delinsCT (n.*672_*673delinsCT) c.*599_*600delinsCT (n.*599_*600delinsCT) c.532_533delinsCT (p.Leu178=) c.685_686delinsCT (p.Leu229=) c.865_866delinsCT (p.Leu289=) | |
| 7 | g.117536580T>A | CA368977384 | CFTR | c.776T>A (p.Leu259His) c.*673T>A (n.*673T>A) c.*600T>A (n.*600T>A) c.533T>A (p.Leu178His) c.686T>A (p.Leu229His) c.866T>A (p.Leu289His) | |
| 7 | g.117536580T>C | CA368977383 | CFTR | c.776T>C (p.Leu259Pro) c.*673T>C (n.*673T>C) c.*600T>C (n.*600T>C) c.533T>C (p.Leu178Pro) c.686T>C (p.Leu229Pro) c.866T>C (p.Leu289Pro) | |
| 7 | g.117536580T>G | CA368977382 | CFTR | c.776T>G (p.Leu259Arg) c.*673T>G (n.*673T>G) c.*600T>G (n.*600T>G) c.533T>G (p.Leu178Arg) c.686T>G (p.Leu229Arg) c.866T>G (p.Leu289Arg) | |
| 7 | g.117536581del | CA1737327081 | CFTR | c.777del (p.Val260Ter) c.*674del (n.*674del) c.*601del (n.*601del) c.534del (p.Val179Ter) c.687del (p.Val230Ter) c.867del (p.Val290Ter) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117536581T>A | CA457227343 | CFTR | c.777T>A (p.Leu259=) c.*674T>A (n.*674T>A) c.*601T>A (n.*601T>A) c.534T>A (p.Leu178=) c.687T>A (p.Leu229=) c.867T>A (p.Leu289=) | |
| 7 | g.117536581T>C | CA457227344 | CFTR | c.777T>C (p.Leu259=) c.*674T>C (n.*674T>C) c.*601T>C (n.*601T>C) c.534T>C (p.Leu178=) c.687T>C (p.Leu229=) c.867T>C (p.Leu289=) | |
| 7 | g.117536581T>G | CA457227345 | CFTR | c.777T>G (p.Leu259=) c.*674T>G (n.*674T>G) c.*601T>G (n.*601T>G) c.534T>G (p.Leu178=) c.687T>G (p.Leu229=) c.867T>G (p.Leu289=) | |
| 7 | g.117536582G>A | CA368977385 | CFTR | c.778G>A (p.Val260Met) c.*675G>A (n.*675G>A) c.*602G>A (n.*602G>A) c.535G>A (p.Val179Met) c.688G>A (p.Val230Met) c.868G>A (p.Val290Met) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117536582G>C | CA368977386 | CFTR | c.778G>C (p.Val260Leu) c.*675G>C (n.*675G>C) c.*602G>C (n.*602G>C) c.535G>C (p.Val179Leu) c.688G>C (p.Val230Leu) c.868G>C (p.Val290Leu) | |
| 7 | g.117536582G= | CA1737327084 | CFTR | c.778G= (p.Val260=) c.*675G= (n.*675G=) c.*602G= (n.*602G=) c.535G= (p.Val179=) c.688G= (p.Val230=) c.868G= (p.Val290=) | |
| 7 | g.117536582G>T | CA368977387 | CFTR | c.778G>T (p.Val260Leu) c.*675G>T (n.*675G>T) c.*602G>T (n.*602G>T) c.535G>T (p.Val179Leu) c.688G>T (p.Val230Leu) c.868G>T (p.Val290Leu) | |
| 7 | g.117536583T>A | CA368977388 | CFTR | c.779T>A (p.Val260Glu) c.*676T>A (n.*676T>A) c.*603T>A (n.*603T>A) c.536T>A (p.Val179Glu) c.689T>A (p.Val230Glu) c.869T>A (p.Val290Glu) | |
| 7 | g.117536583T>C | CA368977389 | CFTR | c.779T>C (p.Val260Ala) c.*676T>C (n.*676T>C) c.*603T>C (n.*603T>C) c.536T>C (p.Val179Ala) c.689T>C (p.Val230Ala) c.869T>C (p.Val290Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117536583T>G | CA4450834 | CFTR | c.779T>G (p.Val260Gly) c.*676T>G (n.*676T>G) c.*603T>G (n.*603T>G) c.536T>G (p.Val179Gly) c.689T>G (p.Val230Gly) c.869T>G (p.Val290Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117536583T= | CA1737327092 | CFTR | c.779T= (p.Val260=) c.*676T= (n.*676T=) c.*603T= (n.*603T=) c.536T= (p.Val179=) c.689T= (p.Val230=) c.869T= (p.Val290=) | |
| 7 | g.117536584G>A | CA164946502 | CFTR | c.780G>A (p.Val260=) c.*677G>A (n.*677G>A) c.*604G>A (n.*604G>A) c.537G>A (p.Val179=) c.690G>A (p.Val230=) c.870G>A (p.Val290=) | ClinVar dbSNP |
| 7 | g.117536584G>C | CA457227348 | CFTR | c.780G>C (p.Val260=) c.*677G>C (n.*677G>C) c.*604G>C (n.*604G>C) c.537G>C (p.Val179=) c.690G>C (p.Val230=) c.870G>C (p.Val290=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117536584G= | CA1737327094 | CFTR | c.780G= (p.Val260=) c.*677G= (n.*677G=) c.*604G= (n.*604G=) c.537G= (p.Val179=) c.690G= (p.Val230=) c.870G= (p.Val290=) | |
| 7 | g.117536584G>T | CA457227346 | CFTR | c.780G>T (p.Val260=) c.*677G>T (n.*677G>T) c.*604G>T (n.*604G>T) c.537G>T (p.Val179=) c.690G>T (p.Val230=) c.870G>T (p.Val290=) | dbSNP gnomAD v4 |
| 7 | g.117536585A>C | CA368977390 | CFTR | c.781A>C (p.Ile261Leu) c.*678A>C (n.*678A>C) c.*605A>C (n.*605A>C) c.538A>C (p.Ile180Leu) c.691A>C (p.Ile231Leu) c.871A>C (p.Ile291Leu) | |
| 7 | g.117536585A>G | CA368977392 | CFTR | c.781A>G (p.Ile261Val) c.*678A>G (n.*678A>G) c.*605A>G (n.*605A>G) c.538A>G (p.Ile180Val) c.691A>G (p.Ile231Val) c.871A>G (p.Ile291Val) | |
| 7 | g.117536585A>T | CA368977391 | CFTR | c.781A>T (p.Ile261Phe) c.*678A>T (n.*678A>T) c.*605A>T (n.*605A>T) c.538A>T (p.Ile180Phe) c.691A>T (p.Ile231Phe) c.871A>T (p.Ile291Phe) | |
| 7 | g.117536586T>A | CA368977393 | CFTR | c.782T>A (p.Ile261Asn) c.*679T>A (n.*679T>A) c.*606T>A (n.*606T>A) c.539T>A (p.Ile180Asn) c.692T>A (p.Ile231Asn) c.872T>A (p.Ile291Asn) | |
| 7 | g.117536586T>C | CA368977394 | CFTR | c.782T>C (p.Ile261Thr) c.*679T>C (n.*679T>C) c.*606T>C (n.*606T>C) c.539T>C (p.Ile180Thr) c.692T>C (p.Ile231Thr) c.872T>C (p.Ile291Thr) | ClinVar |
| 7 | g.117536586T>G | CA368977395 | CFTR | c.782T>G (p.Ile261Ser) c.*679T>G (n.*679T>G) c.*606T>G (n.*606T>G) c.539T>G (p.Ile180Ser) c.692T>G (p.Ile231Ser) c.872T>G (p.Ile291Ser) | |
| 7 | g.117536587T>A | CA457227350 | CFTR | c.783T>A (p.Ile261=) c.*680T>A (n.*680T>A) c.*607T>A (n.*607T>A) c.540T>A (p.Ile180=) c.693T>A (p.Ile231=) c.873T>A (p.Ile291=) | |
| 7 | g.117536587T>C | CA457227351 | CFTR | c.783T>C (p.Ile261=) c.*680T>C (n.*680T>C) c.*607T>C (n.*607T>C) c.540T>C (p.Ile180=) c.693T>C (p.Ile231=) c.873T>C (p.Ile291=) | |
| 7 | g.117536587T>G | CA368977396 | CFTR | c.783T>G (p.Ile261Met) c.*680T>G (n.*680T>G) c.*607T>G (n.*607T>G) c.540T>G (p.Ile180Met) c.693T>G (p.Ile231Met) c.873T>G (p.Ile291Met) | |
| 7 | g.117536588A>C | CA368977397 | CFTR | c.784A>C (p.Thr262Pro) c.*681A>C (n.*681A>C) c.*608A>C (n.*608A>C) c.541A>C (p.Thr181Pro) c.694A>C (p.Thr232Pro) c.874A>C (p.Thr292Pro) | |
| 7 | g.117536588A>G | CA368977398 | CFTR | c.784A>G (p.Thr262Ala) c.*681A>G (n.*681A>G) c.*608A>G (n.*608A>G) c.541A>G (p.Thr181Ala) c.694A>G (p.Thr232Ala) c.874A>G (p.Thr292Ala) | gnomAD v4 |
| 7 | g.117536588A>T | CA368977399 | CFTR | c.784A>T (p.Thr262Ser) c.*681A>T (n.*681A>T) c.*608A>T (n.*608A>T) c.541A>T (p.Thr181Ser) c.694A>T (p.Thr232Ser) c.874A>T (p.Thr292Ser) | |
| 7 | g.117536589C>A | CA368977400 | CFTR | c.785C>A (p.Thr262Asn) c.*682C>A (n.*682C>A) c.*609C>A (n.*609C>A) c.542C>A (p.Thr181Asn) c.695C>A (p.Thr232Asn) c.875C>A (p.Thr292Asn) | dbSNP |
| 7 | g.117536589C= | CA1737327101 | CFTR | c.785C= (p.Thr262=) c.*682C= (n.*682C=) c.*609C= (n.*609C=) c.542C= (p.Thr181=) c.695C= (p.Thr232=) c.875C= (p.Thr292=) | |
| 7 | g.117536589C>G | CA368977401 | CFTR | c.785C>G (p.Thr262Ser) c.*682C>G (n.*682C>G) c.*609C>G (n.*609C>G) c.542C>G (p.Thr181Ser) c.695C>G (p.Thr232Ser) c.875C>G (p.Thr292Ser) | |
| 7 | g.117536589C>T | CA368977402 | CFTR | c.785C>T (p.Thr262Ile) c.*682C>T (n.*682C>T) c.*609C>T (n.*609C>T) c.542C>T (p.Thr181Ile) c.695C>T (p.Thr232Ile) c.875C>T (p.Thr292Ile) | |
| 7 | g.117536590C>A | CA457227354 | CFTR | c.786C>A (p.Thr262=) c.*683C>A (n.*683C>A) c.*610C>A (n.*610C>A) c.543C>A (p.Thr181=) c.696C>A (p.Thr232=) c.876C>A (p.Thr292=) | |
| 7 | g.117536590C>G | CA457227356 | CFTR | c.786C>G (p.Thr262=) c.*683C>G (n.*683C>G) c.*610C>G (n.*610C>G) c.543C>G (p.Thr181=) c.696C>G (p.Thr232=) c.876C>G (p.Thr292=) | |
| 7 | g.117536590C>T | CA457227355 | CFTR | c.786C>T (p.Thr262=) c.*683C>T (n.*683C>T) c.*610C>T (n.*610C>T) c.543C>T (p.Thr181=) c.696C>T (p.Thr232=) c.876C>T (p.Thr292=) | gnomAD v4 |
| 7 | g.117536591T>A | CA368977405 | CFTR | c.787T>A (p.Ser263Thr) c.*684T>A (n.*684T>A) c.*611T>A (n.*611T>A) c.544T>A (p.Ser182Thr) c.697T>A (p.Ser233Thr) c.877T>A (p.Ser293Thr) | |
| 7 | g.117536591T>C | CA368977404 | CFTR | c.787T>C (p.Ser263Pro) c.*684T>C (n.*684T>C) c.*611T>C (n.*611T>C) c.544T>C (p.Ser182Pro) c.697T>C (p.Ser233Pro) c.877T>C (p.Ser293Pro) | |
| 7 | g.117536591T>G | CA368977403 | CFTR | c.787T>G (p.Ser263Ala) c.*684T>G (n.*684T>G) c.*611T>G (n.*611T>G) c.544T>G (p.Ser182Ala) c.697T>G (p.Ser233Ala) c.877T>G (p.Ser293Ala) | |
| 7 | g.117536592C>A | CA368977406 | CFTR | c.788C>A (p.Ser263Ter) c.*685C>A (n.*685C>A) c.*612C>A (n.*612C>A) c.545C>A (p.Ser182Ter) c.698C>A (p.Ser233Ter) c.878C>A (p.Ser293Ter) | |
| 7 | g.117536592C>G | CA368977407 | CFTR | c.788C>G (p.Ser263Ter) c.*685C>G (n.*685C>G) c.*612C>G (n.*612C>G) c.545C>G (p.Ser182Ter) c.698C>G (p.Ser233Ter) c.878C>G (p.Ser293Ter) | |
| 7 | g.117536592C>T | CA368977408 | CFTR | c.788C>T (p.Ser263Leu) c.*685C>T (n.*685C>T) c.*612C>T (n.*612C>T) c.545C>T (p.Ser182Leu) c.698C>T (p.Ser233Leu) c.878C>T (p.Ser293Leu) | |
| 7 | g.117536593A= | CA1737327106 | CFTR | c.789A= (p.Ser263=) c.*686A= (n.*686A=) c.*613A= (n.*613A=) c.546A= (p.Ser182=) c.699A= (p.Ser233=) c.879A= (p.Ser293=) | |
| 7 | g.117536593A>C | CA457227358 | CFTR | c.789A>C (p.Ser263=) c.*686A>C (n.*686A>C) c.*613A>C (n.*613A>C) c.546A>C (p.Ser182=) c.699A>C (p.Ser233=) c.879A>C (p.Ser293=) | |
| 7 | g.117536593A>G | CA457227359 | CFTR | c.789A>G (p.Ser263=) c.*686A>G (n.*686A>G) c.*613A>G (n.*613A>G) c.546A>G (p.Ser182=) c.699A>G (p.Ser233=) c.879A>G (p.Ser293=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117536593A>T | CA457227360 | CFTR | c.789A>T (p.Ser263=) c.*686A>T (n.*686A>T) c.*613A>T (n.*613A>T) c.546A>T (p.Ser182=) c.699A>T (p.Ser233=) c.879A>T (p.Ser293=) | ClinVar dbSNP |
| 7 | g.117536594G>A | CA368977409 | CFTR | c.790G>A (p.Glu264Lys) c.*687G>A (n.*687G>A) c.*614G>A (n.*614G>A) c.547G>A (p.Glu183Lys) c.700G>A (p.Glu234Lys) c.880G>A (p.Glu294Lys) | |
| 7 | g.117536594G>C | CA368977410 | CFTR | c.790G>C (p.Glu264Gln) c.*687G>C (n.*687G>C) c.*614G>C (n.*614G>C) c.547G>C (p.Glu183Gln) c.700G>C (p.Glu234Gln) c.880G>C (p.Glu294Gln) | |
| 7 | g.117536594G>T | CA368977411 | CFTR | c.790G>T (p.Glu264Ter) c.*687G>T (n.*687G>T) c.*614G>T (n.*614G>T) c.547G>T (p.Glu183Ter) c.700G>T (p.Glu234Ter) c.880G>T (p.Glu294Ter) | |
| 7 | g.117536595A>C | CA368977414 | CFTR | c.791A>C (p.Glu264Ala) c.*688A>C (n.*688A>C) c.*615A>C (n.*615A>C) c.548A>C (p.Glu183Ala) c.701A>C (p.Glu234Ala) c.881A>C (p.Glu294Ala) | |
| 7 | g.117536595A>G | CA368977412 | CFTR | c.791A>G (p.Glu264Gly) c.*688A>G (n.*688A>G) c.*615A>G (n.*615A>G) c.548A>G (p.Glu183Gly) c.701A>G (p.Glu234Gly) c.881A>G (p.Glu294Gly) | |
| 7 | g.117536595A>T | CA368977413 | CFTR | c.791A>T (p.Glu264Val) c.*688A>T (n.*688A>T) c.*615A>T (n.*615A>T) c.548A>T (p.Glu183Val) c.701A>T (p.Glu234Val) c.881A>T (p.Glu294Val) | |
| 7 | g.117536596_117536597del | CA2695208305 | CFTR | c.792_793del (p.Glu264AspfsTer3) c.*689_*690del (n.*689_*690del) c.*616_*617del (n.*616_*617del) c.549_550del (p.Glu183AspfsTer3) c.702_703del (p.Glu234AspfsTer3) c.882_883del (p.Glu294AspfsTer3) | |
| 7 | g.117536596A>C | CA368977415 | CFTR | c.792A>C (p.Glu264Asp) c.*689A>C (n.*689A>C) c.*616A>C (n.*616A>C) c.549A>C (p.Glu183Asp) c.702A>C (p.Glu234Asp) c.882A>C (p.Glu294Asp) | |
| 7 | g.117536596A>G | CA457227362 | CFTR | c.792A>G (p.Glu264=) c.*689A>G (n.*689A>G) c.*616A>G (n.*616A>G) c.549A>G (p.Glu183=) c.702A>G (p.Glu234=) c.882A>G (p.Glu294=) | ClinVar |
| 7 | g.117536596A>T | CA368977416 | CFTR | c.792A>T (p.Glu264Asp) c.*689A>T (n.*689A>T) c.*616A>T (n.*616A>T) c.549A>T (p.Glu183Asp) c.702A>T (p.Glu234Asp) c.882A>T (p.Glu294Asp) | |
| 7 | g.117536597A>C | CA368977417 | CFTR | c.793A>C (p.Met265Leu) c.*690A>C (n.*690A>C) c.*617A>C (n.*617A>C) c.550A>C (p.Met184Leu) c.703A>C (p.Met235Leu) c.883A>C (p.Met295Leu) | COSMIC |
| 7 | g.117536597A>G | CA368977418 | CFTR | c.793A>G (p.Met265Val) c.*690A>G (n.*690A>G) c.*617A>G (n.*617A>G) c.550A>G (p.Met184Val) c.703A>G (p.Met235Val) c.883A>G (p.Met295Val) | |
| 7 | g.117536597A>T | CA368977419 | CFTR | c.793A>T (p.Met265Leu) c.*690A>T (n.*690A>T) c.*617A>T (n.*617A>T) c.550A>T (p.Met184Leu) c.703A>T (p.Met235Leu) c.883A>T (p.Met295Leu) | |
| 7 | g.117536598T>A | CA368977420 | CFTR | c.794T>A (p.Met265Lys) c.*691T>A (n.*691T>A) c.*618T>A (n.*618T>A) c.551T>A (p.Met184Lys) c.704T>A (p.Met235Lys) c.884T>A (p.Met295Lys) | gnomAD v4 |
| 7 | g.117536598T>C | CA368977421 | CFTR | c.794T>C (p.Met265Thr) c.*691T>C (n.*691T>C) c.*618T>C (n.*618T>C) c.551T>C (p.Met184Thr) c.704T>C (p.Met235Thr) c.884T>C (p.Met295Thr) | |
| 7 | g.117536598T>G | CA327651 | CFTR | c.794T>G (p.Met265Arg) c.*691T>G (n.*691T>G) c.*618T>G (n.*618T>G) c.551T>G (p.Met184Arg) c.704T>G (p.Met235Arg) c.884T>G (p.Met295Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117536598T= | CA1737327115 | CFTR | c.794T= (p.Met265=) c.*691T= (n.*691T=) c.*618T= (n.*618T=) c.551T= (p.Met184=) c.704T= (p.Met235=) c.884T= (p.Met295=) | |
| 7 | g.117536599G>A | CA368977422 | CFTR | c.795G>A (p.Met265Ile) c.*692G>A (n.*692G>A) c.*619G>A (n.*619G>A) c.552G>A (p.Met184Ile) c.705G>A (p.Met235Ile) c.885G>A (p.Met295Ile) | gnomAD v4 |
| 7 | g.117536599G>C | CA368977423 | CFTR | c.795G>C (p.Met265Ile) c.*692G>C (n.*692G>C) c.*619G>C (n.*619G>C) c.552G>C (p.Met184Ile) c.705G>C (p.Met235Ile) c.885G>C (p.Met295Ile) | |
| 7 | g.117536599G>T | CA368977424 | CFTR | c.795G>T (p.Met265Ile) c.*692G>T (n.*692G>T) c.*619G>T (n.*619G>T) c.552G>T (p.Met184Ile) c.705G>T (p.Met235Ile) c.885G>T (p.Met295Ile) | gnomAD v4 |
| 7 | g.117536600A>C | CA368977425 | CFTR | c.796A>C (p.Ile266Leu) c.*693A>C (n.*693A>C) c.*620A>C (n.*620A>C) c.553A>C (p.Ile185Leu) c.706A>C (p.Ile236Leu) c.886A>C (p.Ile296Leu) | |
| 7 | g.117536600A>G | CA368977426 | CFTR | c.796A>G (p.Ile266Val) c.*693A>G (n.*693A>G) c.*620A>G (n.*620A>G) c.553A>G (p.Ile185Val) c.706A>G (p.Ile236Val) c.886A>G (p.Ile296Val) | ClinVar gnomAD v4 |
| 7 | g.117536600A>T | CA368977427 | CFTR | c.796A>T (p.Ile266Phe) c.*693A>T (n.*693A>T) c.*620A>T (n.*620A>T) c.553A>T (p.Ile185Phe) c.706A>T (p.Ile236Phe) c.886A>T (p.Ile296Phe) | gnomAD v4 |
| 7 | g.117536601T>A | CA368977428 | CFTR | c.797T>A (p.Ile266Asn) c.*694T>A (n.*694T>A) c.*621T>A (n.*621T>A) c.554T>A (p.Ile185Asn) c.707T>A (p.Ile236Asn) c.887T>A (p.Ile296Asn) | |
| 7 | g.117536601T>C | CA368977429 | CFTR | c.797T>C (p.Ile266Thr) c.*694T>C (n.*694T>C) c.*621T>C (n.*621T>C) c.554T>C (p.Ile185Thr) c.707T>C (p.Ile236Thr) c.887T>C (p.Ile296Thr) | gnomAD v4 |
| 7 | g.117536601T>G | CA368977430 | CFTR | c.797T>G (p.Ile266Ser) c.*694T>G (n.*694T>G) c.*621T>G (n.*621T>G) c.554T>G (p.Ile185Ser) c.707T>G (p.Ile236Ser) c.887T>G (p.Ile296Ser) | |
| 7 | g.117536602T>A | CA457227364 | CFTR | c.798T>A (p.Ile266=) c.*695T>A (n.*695T>A) c.*622T>A (n.*622T>A) c.555T>A (p.Ile185=) c.708T>A (p.Ile236=) c.888T>A (p.Ile296=) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117536602T>C | CA457227366 | CFTR | c.798T>C (p.Ile266=) c.*695T>C (n.*695T>C) c.*622T>C (n.*622T>C) c.555T>C (p.Ile185=) c.708T>C (p.Ile236=) c.888T>C (p.Ile296=) | |
| 7 | g.117536602T>G | CA368977431 | CFTR | c.798T>G (p.Ile266Met) c.*695T>G (n.*695T>G) c.*622T>G (n.*622T>G) c.555T>G (p.Ile185Met) c.708T>G (p.Ile236Met) c.888T>G (p.Ile296Met) | |
| 7 | g.117536603G>A | CA368977434 | CFTR | c.799G>A (p.Glu267Lys) c.*696G>A (n.*696G>A) c.*623G>A (n.*623G>A) c.556G>A (p.Glu186Lys) c.709G>A (p.Glu237Lys) c.889G>A (p.Glu297Lys) | |
| 7 | g.117536603G>C | CA368977433 | CFTR | c.799G>C (p.Glu267Gln) c.*696G>C (n.*696G>C) c.*623G>C (n.*623G>C) c.556G>C (p.Glu186Gln) c.709G>C (p.Glu237Gln) c.889G>C (p.Glu297Gln) | |
| 7 | g.117536603G>T | CA368977432 | CFTR | c.799G>T (p.Glu267Ter) c.*696G>T (n.*696G>T) c.*623G>T (n.*623G>T) c.556G>T (p.Glu186Ter) c.709G>T (p.Glu237Ter) c.889G>T (p.Glu297Ter) | |
| 7 | g.117536603_117536604delinsGA | CA1737327118 | CFTR | c.799_800delinsGA (p.Glu267=) c.*696_*697delinsGA (n.*696_*697delinsGA) c.*623_*624delinsGA (n.*623_*624delinsGA) c.556_557delinsGA (p.Glu186=) c.709_710delinsGA (p.Glu237=) c.889_890delinsGA (p.Glu297=) | |
| 7 | g.117536604A>C | CA368977435 | CFTR | c.800A>C (p.Glu267Ala) c.*697A>C (n.*697A>C) c.*624A>C (n.*624A>C) c.557A>C (p.Glu186Ala) c.710A>C (p.Glu237Ala) c.890A>C (p.Glu297Ala) | |
| 7 | g.117536604A>G | CA368977436 | CFTR | c.800A>G (p.Glu267Gly) c.*697A>G (n.*697A>G) c.*624A>G (n.*624A>G) c.557A>G (p.Glu186Gly) c.710A>G (p.Glu237Gly) c.890A>G (p.Glu297Gly) | |
| 7 | g.117536604A>T | CA368977437 | CFTR | c.800A>T (p.Glu267Val) c.*697A>T (n.*697A>T) c.*624A>T (n.*624A>T) c.557A>T (p.Glu186Val) c.710A>T (p.Glu237Val) c.890A>T (p.Glu297Val) | |
| 7 | g.117536607del | CA221036 | CFTR | c.803del (p.Asn268IlefsTer17) c.*700del (n.*700del) c.*627del (n.*627del) c.560del (p.Asn187IlefsTer17) c.713del (p.Asn238IlefsTer17) c.893del (p.Asn298IlefsTer17) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117536605A= | CA1737327124 | CFTR | c.801A= (p.Glu267=) c.*698A= (n.*698A=) c.*625A= (n.*625A=) c.558A= (p.Glu186=) c.711A= (p.Glu237=) c.891A= (p.Glu297=) | |
| 7 | g.117536605A>C | CA368977438 | CFTR | c.801A>C (p.Glu267Asp) c.*698A>C (n.*698A>C) c.*625A>C (n.*625A>C) c.558A>C (p.Glu186Asp) c.711A>C (p.Glu237Asp) c.891A>C (p.Glu297Asp) | |
| 7 | g.117536605A>G | CA457227368 | CFTR | c.801A>G (p.Glu267=) c.*698A>G (n.*698A>G) c.*625A>G (n.*625A>G) c.558A>G (p.Glu186=) c.711A>G (p.Glu237=) c.891A>G (p.Glu297=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117536605A>T | CA368977439 | CFTR | c.801A>T (p.Glu267Asp) c.*698A>T (n.*698A>T) c.*625A>T (n.*625A>T) c.558A>T (p.Glu186Asp) c.711A>T (p.Glu237Asp) c.891A>T (p.Glu297Asp) | |
| 7 | g.117536606A>C | CA368977440 | CFTR | c.802A>C (p.Asn268His) c.*699A>C (n.*699A>C) c.*626A>C (n.*626A>C) c.559A>C (p.Asn187His) c.712A>C (p.Asn238His) c.892A>C (p.Asn298His) | |
| 7 | g.117536606A>G | CA368977441 | CFTR | c.802A>G (p.Asn268Asp) c.*699A>G (n.*699A>G) c.*626A>G (n.*626A>G) c.559A>G (p.Asn187Asp) c.712A>G (p.Asn238Asp) c.892A>G (p.Asn298Asp) | |
| 7 | g.117536606A>T | CA368977442 | CFTR | c.802A>T (p.Asn268Tyr) c.*699A>T (n.*699A>T) c.*626A>T (n.*626A>T) c.559A>T (p.Asn187Tyr) c.712A>T (p.Asn238Tyr) c.892A>T (p.Asn298Tyr) | |
| 7 | g.117536606_117536608delinsAAT | CA1737327129 | CFTR | c.802_804delinsAAT (p.Asn268=) c.*699_*701delinsAAT (n.*699_*701delinsAAT) c.*626_*628delinsAAT (n.*626_*628delinsAAT) c.559_561delinsAAT (p.Asn187=) c.712_714delinsAAT (p.Asn238=) c.892_894delinsAAT (p.Asn298=) | |
| 7 | g.117536607A>C | CA368977443 | CFTR | c.803A>C (p.Asn268Thr) c.*700A>C (n.*700A>C) c.*627A>C (n.*627A>C) c.560A>C (p.Asn187Thr) c.713A>C (p.Asn238Thr) c.893A>C (p.Asn298Thr) | |
| 7 | g.117536607A>G | CA368977444 | CFTR | c.803A>G (p.Asn268Ser) c.*700A>G (n.*700A>G) c.*627A>G (n.*627A>G) c.560A>G (p.Asn187Ser) c.713A>G (p.Asn238Ser) c.893A>G (p.Asn298Ser) | |
| 7 | g.117536607A>T | CA368977445 | CFTR | c.803A>T (p.Asn268Ile) c.*700A>T (n.*700A>T) c.*627A>T (n.*627A>T) c.560A>T (p.Asn187Ile) c.713A>T (p.Asn238Ile) c.893A>T (p.Asn298Ile) | |
| 7 | g.117536609_117536610del | CA325594 | CFTR | c.805_806del (p.Ile269ProfsTer4) c.*702_*703del (n.*702_*703del) c.*629_*630del (n.*629_*630del) c.562_563del (p.Ile188ProfsTer4) c.715_716del (p.Ile239ProfsTer4) c.895_896del (p.Ile299ProfsTer4) | ClinVar dbSNP |
| 7 | g.117536608T>A | CA368977446 | CFTR | c.804T>A (p.Asn268Lys) c.*701T>A (n.*701T>A) c.*628T>A (n.*628T>A) c.561T>A (p.Asn187Lys) c.714T>A (p.Asn238Lys) c.894T>A (p.Asn298Lys) | |
| 7 | g.117536608T>C | CA457227375 | CFTR | c.804T>C (p.Asn268=) c.*701T>C (n.*701T>C) c.*628T>C (n.*628T>C) c.561T>C (p.Asn187=) c.714T>C (p.Asn238=) c.894T>C (p.Asn298=) | |
| 7 | g.117536608T>G | CA368977447 | CFTR | c.804T>G (p.Asn268Lys) c.*701T>G (n.*701T>G) c.*628T>G (n.*628T>G) c.561T>G (p.Asn187Lys) c.714T>G (p.Asn238Lys) c.894T>G (p.Asn298Lys) | |
| 7 | g.117536609A>C | CA368977450 | CFTR | c.805A>C (p.Ile269Leu) c.*702A>C (n.*702A>C) c.*629A>C (n.*629A>C) c.562A>C (p.Ile188Leu) c.715A>C (p.Ile239Leu) c.895A>C (p.Ile299Leu) | |
| 7 | g.117536609A>G | CA368977448 | CFTR | c.805A>G (p.Ile269Val) c.*702A>G (n.*702A>G) c.*629A>G (n.*629A>G) c.562A>G (p.Ile188Val) c.715A>G (p.Ile239Val) c.895A>G (p.Ile299Val) | |
| 7 | g.117536609A>T | CA368977449 | CFTR | c.805A>T (p.Ile269Phe) c.*702A>T (n.*702A>T) c.*629A>T (n.*629A>T) c.562A>T (p.Ile188Phe) c.715A>T (p.Ile239Phe) c.895A>T (p.Ile299Phe) | |
| 7 | g.117536610T>A | CA368977451 | CFTR | c.806T>A (p.Ile269Asn) c.*703T>A (n.*703T>A) c.*630T>A (n.*630T>A) c.563T>A (p.Ile188Asn) c.716T>A (p.Ile239Asn) c.896T>A (p.Ile299Asn) | |
| 7 | g.117536610T>C | CA4450835 | CFTR | c.806T>C (p.Ile269Thr) c.*703T>C (n.*703T>C) c.*630T>C (n.*630T>C) c.563T>C (p.Ile188Thr) c.716T>C (p.Ile239Thr) c.896T>C (p.Ile299Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117536610T>G | CA368977452 | CFTR | c.806T>G (p.Ile269Ser) c.*703T>G (n.*703T>G) c.*630T>G (n.*630T>G) c.563T>G (p.Ile188Ser) c.716T>G (p.Ile239Ser) c.896T>G (p.Ile299Ser) | gnomAD v4 |
| 7 | g.117536610T= | CA1737327139 | CFTR | c.806T= (p.Ile269=) c.*703T= (n.*703T=) c.*630T= (n.*630T=) c.563T= (p.Ile188=) c.716T= (p.Ile239=) c.896T= (p.Ile299=) | |
| 7 | g.117536611C>A | CA457227380 | CFTR | c.807C>A (p.Ile269=) c.*704C>A (n.*704C>A) c.*631C>A (n.*631C>A) c.564C>A (p.Ile188=) c.717C>A (p.Ile239=) c.897C>A (p.Ile299=) | ClinVar |
| 7 | g.117536611C>G | CA368977453 | CFTR | c.807C>G (p.Ile269Met) c.*704C>G (n.*704C>G) c.*631C>G (n.*631C>G) c.564C>G (p.Ile188Met) c.717C>G (p.Ile239Met) c.897C>G (p.Ile299Met) | gnomAD v4 |
| 7 | g.117536611C>T | CA457227381 | CFTR | c.807C>T (p.Ile269=) c.*704C>T (n.*704C>T) c.*631C>T (n.*631C>T) c.564C>T (p.Ile188=) c.717C>T (p.Ile239=) c.897C>T (p.Ile299=) | ClinVar gnomAD v4 COSMIC |
| 7 | g.117536612C>A | CA368977454 | CFTR | c.808C>A (p.Gln270Lys) c.*705C>A (n.*705C>A) c.*632C>A (n.*632C>A) c.565C>A (p.Gln189Lys) c.718C>A (p.Gln240Lys) c.898C>A (p.Gln300Lys) | |
| 7 | g.117536612C= | CA1737327142 | CFTR | c.808C= (p.Gln270=) c.*705C= (n.*705C=) c.*632C= (n.*632C=) c.565C= (p.Gln189=) c.718C= (p.Gln240=) c.898C= (p.Gln300=) | |
| 7 | g.117536612C>G | CA368977455 | CFTR | c.808C>G (p.Gln270Glu) c.*705C>G (n.*705C>G) c.*632C>G (n.*632C>G) c.565C>G (p.Gln189Glu) c.718C>G (p.Gln240Glu) c.898C>G (p.Gln300Glu) | |
| 7 | g.117536612C>T | CA368977456 | CFTR | c.808C>T (p.Gln270Ter) c.*705C>T (n.*705C>T) c.*632C>T (n.*632C>T) c.565C>T (p.Gln189Ter) c.718C>T (p.Gln240Ter) c.898C>T (p.Gln300Ter) | ClinVar dbSNP |
| 7 | g.117536613A>C | CA368977457 | CFTR | c.809A>C (p.Gln270Pro) c.*706A>C (n.*706A>C) c.*633A>C (n.*633A>C) c.566A>C (p.Gln189Pro) c.719A>C (p.Gln240Pro) c.899A>C (p.Gln300Pro) | |
| 7 | g.117536613A>G | CA368977458 | CFTR | c.809A>G (p.Gln270Arg) c.*706A>G (n.*706A>G) c.*633A>G (n.*633A>G) c.566A>G (p.Gln189Arg) c.719A>G (p.Gln240Arg) c.899A>G (p.Gln300Arg) | |
| 7 | g.117536613A>T | CA368977459 | CFTR | c.809A>T (p.Gln270Leu) c.*706A>T (n.*706A>T) c.*633A>T (n.*633A>T) c.566A>T (p.Gln189Leu) c.719A>T (p.Gln240Leu) c.899A>T (p.Gln300Leu) | |
| 7 | g.117536614del | CA2697557574 | CFTR | c.810del (p.Gln270HisfsTer15) c.*707del (n.*707del) c.*634del (n.*634del) c.567del (p.Gln189HisfsTer15) c.720del (p.Gln240HisfsTer15) c.900del (p.Gln300HisfsTer15) | ClinVar |
| 7 | g.117536614A= | CA1737327151 | CFTR | c.810A= (p.Gln270=) c.*707A= (n.*707A=) c.*634A= (n.*634A=) c.567A= (p.Gln189=) c.720A= (p.Gln240=) c.900A= (p.Gln300=) | |
| 7 | g.117536614A>C | CA368977461 | CFTR | c.810A>C (p.Gln270His) c.*707A>C (n.*707A>C) c.*634A>C (n.*634A>C) c.567A>C (p.Gln189His) c.720A>C (p.Gln240His) c.900A>C (p.Gln300His) | |
| 7 | g.117536614A>G | CA4450836 | CFTR | c.810A>G (p.Gln270=) c.*707A>G (n.*707A>G) c.*634A>G (n.*634A>G) c.567A>G (p.Gln189=) c.720A>G (p.Gln240=) c.900A>G (p.Gln300=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117536614A>T | CA368977460 | CFTR | c.810A>T (p.Gln270His) c.*707A>T (n.*707A>T) c.*634A>T (n.*634A>T) c.567A>T (p.Gln189His) c.720A>T (p.Gln240His) c.900A>T (p.Gln300His) | |
| 7 | g.117536614_117536615delinsAT | CA1737327155 | CFTR | c.810_811delinsAT (p.Gln270=) c.*707_*708delinsAT (n.*707_*708delinsAT) c.*634_*635delinsAT (n.*634_*635delinsAT) c.567_568delinsAT (p.Gln189=) c.720_721delinsAT (p.Gln240=) c.900_901delinsAT (p.Gln300=) | |
| 7 | g.117536615del | CA658683491 | CFTR | c.811del (p.Ser271LeufsTer14) c.*708del (n.*708del) c.*635del (n.*635del) c.568del (p.Ser190LeufsTer14) c.721del (p.Ser241LeufsTer14) c.901del (p.Ser301LeufsTer14) | ClinVar dbSNP |
| 7 | g.117536615T>A | CA368977462 | CFTR | c.811T>A (p.Ser271Thr) c.*708T>A (n.*708T>A) c.*635T>A (n.*635T>A) c.568T>A (p.Ser190Thr) c.721T>A (p.Ser241Thr) c.901T>A (p.Ser301Thr) | |
| 7 | g.117536615T>C | CA368977463 | CFTR | c.811T>C (p.Ser271Pro) c.*708T>C (n.*708T>C) c.*635T>C (n.*635T>C) c.568T>C (p.Ser190Pro) c.721T>C (p.Ser241Pro) c.901T>C (p.Ser301Pro) | gnomAD v4 |
| 7 | g.117536615T>G | CA368977464 | CFTR | c.811T>G (p.Ser271Ala) c.*708T>G (n.*708T>G) c.*635T>G (n.*635T>G) c.568T>G (p.Ser190Ala) c.721T>G (p.Ser241Ala) c.901T>G (p.Ser301Ala) | |
| 7 | g.117536616C>A | CA368977465 | CFTR | c.812C>A (p.Ser271Tyr) c.*709C>A (n.*709C>A) c.*636C>A (n.*636C>A) c.569C>A (p.Ser190Tyr) c.722C>A (p.Ser241Tyr) c.902C>A (p.Ser301Tyr) | |
| 7 | g.117536616C>G | CA368977466 | CFTR | c.812C>G (p.Ser271Cys) c.*709C>G (n.*709C>G) c.*636C>G (n.*636C>G) c.569C>G (p.Ser190Cys) c.722C>G (p.Ser241Cys) c.902C>G (p.Ser301Cys) | |
| 7 | g.117536616C>T | CA368977467 | CFTR | c.812C>T (p.Ser271Phe) c.*709C>T (n.*709C>T) c.*636C>T (n.*636C>T) c.569C>T (p.Ser190Phe) c.722C>T (p.Ser241Phe) c.902C>T (p.Ser301Phe) | |
| 7 | g.117536617T>A | CA457227384 | CFTR | c.813T>A (p.Ser271=) c.*710T>A (n.*710T>A) c.*637T>A (n.*637T>A) c.570T>A (p.Ser190=) c.723T>A (p.Ser241=) c.903T>A (p.Ser301=) | |
| 7 | g.117536617T>C | CA457227385 | CFTR | c.813T>C (p.Ser271=) c.*710T>C (n.*710T>C) c.*637T>C (n.*637T>C) c.570T>C (p.Ser190=) c.723T>C (p.Ser241=) c.903T>C (p.Ser301=) | |
| 7 | g.117536617T>G | CA16612274 | CFTR | c.813T>G (p.Ser271=) c.*710T>G (n.*710T>G) c.*637T>G (n.*637T>G) c.570T>G (p.Ser190=) c.723T>G (p.Ser241=) c.903T>G (p.Ser301=) | ClinVar dbSNP |
| 7 | g.117536617T= | CA1737327159 | CFTR | c.813T= (p.Ser271=) c.*710T= (n.*710T=) c.*637T= (n.*637T=) c.570T= (p.Ser190=) c.723T= (p.Ser241=) c.903T= (p.Ser301=) | |
| 7 | g.117536618G>A | CA368977468 | CFTR | c.814G>A (p.Val272Ile) c.*711G>A (n.*711G>A) c.*638G>A (n.*638G>A) c.571G>A (p.Val191Ile) c.724G>A (p.Val242Ile) c.904G>A (p.Val302Ile) | |
| 7 | g.117536618G>C | CA368977469 | CFTR | c.814G>C (p.Val272Leu) c.*711G>C (n.*711G>C) c.*638G>C (n.*638G>C) c.571G>C (p.Val191Leu) c.724G>C (p.Val242Leu) c.904G>C (p.Val302Leu) | gnomAD v4 |
| 7 | g.117536618G>T | CA368977470 | CFTR | c.814G>T (p.Val272Phe) c.*711G>T (n.*711G>T) c.*638G>T (n.*638G>T) c.571G>T (p.Val191Phe) c.724G>T (p.Val242Phe) c.904G>T (p.Val302Phe) | |
| 7 | g.117536619T>A | CA368977471 | CFTR | c.815T>A (p.Val272Asp) c.*712T>A (n.*712T>A) c.*639T>A (n.*639T>A) c.572T>A (p.Val191Asp) c.725T>A (p.Val242Asp) c.905T>A (p.Val302Asp) | |
| 7 | g.117536619T>C | CA4450837 | CFTR | c.815T>C (p.Val272Ala) c.*712T>C (n.*712T>C) c.*639T>C (n.*639T>C) c.572T>C (p.Val191Ala) c.725T>C (p.Val242Ala) c.905T>C (p.Val302Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117536619T>G | CA368977472 | CFTR | c.815T>G (p.Val272Gly) c.*712T>G (n.*712T>G) c.*639T>G (n.*639T>G) c.572T>G (p.Val191Gly) c.725T>G (p.Val242Gly) c.905T>G (p.Val302Gly) | |
| 7 | g.117536619T= | CA1737327168 | CFTR | c.815T= (p.Val272=) c.*712T= (n.*712T=) c.*639T= (n.*639T=) c.572T= (p.Val191=) c.725T= (p.Val242=) c.905T= (p.Val302=) | |
| 7 | g.117536620T>A | CA457227387 | CFTR | c.816T>A (p.Val272=) c.*713T>A (n.*713T>A) c.*640T>A (n.*640T>A) c.573T>A (p.Val191=) c.726T>A (p.Val242=) c.906T>A (p.Val302=) | |
| 7 | g.117536620T>C | CA457227388 | CFTR | c.816T>C (p.Val272=) c.*713T>C (n.*713T>C) c.*640T>C (n.*640T>C) c.573T>C (p.Val191=) c.726T>C (p.Val242=) c.906T>C (p.Val302=) | |
| 7 | g.117536620T>G | CA457227389 | CFTR | c.816T>G (p.Val272=) c.*713T>G (n.*713T>G) c.*640T>G (n.*640T>G) c.573T>G (p.Val191=) c.726T>G (p.Val242=) c.906T>G (p.Val302=) | |
| 7 | g.117536622_117536628del | CA913111894 | CFTR | c.818_824del (p.Lys273ThrfsTer10) c.*715_*721del (n.*715_*721del) c.*642_*648del (n.*642_*648del) c.575_581del (p.Lys192ThrfsTer10) c.728_734del (p.Lys243ThrfsTer10) c.908_914del (p.Lys303ThrfsTer10) | |
| 7 | g.117536621A= | CA1737327172 | CFTR | c.817A= (p.Lys273=) c.*714A= (n.*714A=) c.*641A= (n.*641A=) c.574A= (p.Lys192=) c.727A= (p.Lys243=) c.907A= (p.Lys303=) | |
| 7 | g.117536621A>C | CA368977474 | CFTR | c.817A>C (p.Lys273Gln) c.*714A>C (n.*714A>C) c.*641A>C (n.*641A>C) c.574A>C (p.Lys192Gln) c.727A>C (p.Lys243Gln) c.907A>C (p.Lys303Gln) | dbSNP gnomAD v2 |
| 7 | g.117536621A>G | CA368977475 | CFTR | c.817A>G (p.Lys273Glu) c.*714A>G (n.*714A>G) c.*641A>G (n.*641A>G) c.574A>G (p.Lys192Glu) c.727A>G (p.Lys243Glu) c.907A>G (p.Lys303Glu) | |
| 7 | g.117536621A>T | CA368977473 | CFTR | c.817A>T (p.Lys273Ter) c.*714A>T (n.*714A>T) c.*641A>T (n.*641A>T) c.574A>T (p.Lys192Ter) c.727A>T (p.Lys243Ter) c.907A>T (p.Lys303Ter) | ClinVar dbSNP |
| 7 | g.117536621_117536627delinsAAGGCAT | CA1737327174 | CFTR | c.817_823delinsAAGGCAT (p.Lys273=) c.*714_*720delinsAAGGCAT (n.*714_*720delinsAAGGCAT) c.*641_*647delinsAAGGCAT (n.*641_*647delinsAAGGCAT) c.574_580delinsAAGGCAT (p.Lys192=) c.727_733delinsAAGGCAT (p.Lys243=) c.907_913delinsAAGGCAT (p.Lys303=) | |
| 7 | g.117536622A= | CA1737327180 | CFTR | c.818A= (p.Lys273=) c.*715A= (n.*715A=) c.*642A= (n.*642A=) c.575A= (p.Lys192=) c.728A= (p.Lys243=) c.908A= (p.Lys303=) | |
| 7 | g.117536622A>C | CA368977476 | CFTR | c.818A>C (p.Lys273Thr) c.*715A>C (n.*715A>C) c.*642A>C (n.*642A>C) c.575A>C (p.Lys192Thr) c.728A>C (p.Lys243Thr) c.908A>C (p.Lys303Thr) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117536622A>G | CA368977477 | CFTR | c.818A>G (p.Lys273Arg) c.*715A>G (n.*715A>G) c.*642A>G (n.*642A>G) c.575A>G (p.Lys192Arg) c.728A>G (p.Lys243Arg) c.908A>G (p.Lys303Arg) | |
| 7 | g.117536622A>T | CA4450838 | CFTR | c.818A>T (p.Lys273Met) c.*715A>T (n.*715A>T) c.*642A>T (n.*642A>T) c.575A>T (p.Lys192Met) c.728A>T (p.Lys243Met) c.908A>T (p.Lys303Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117536623_117536628del | CA658821275 | CFTR | c.819_824del (p.Lys273_Tyr275delinsAsn) c.*716_*721del (n.*716_*721del) c.*643_*648del (n.*643_*648del) c.576_581del (p.Lys192_Tyr194delinsAsn) c.729_734del (p.Lys243_Tyr245delinsAsn) c.909_914del (p.Lys303_Tyr305delinsAsn) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117536623G>A | CA457227392 | CFTR | c.819G>A (p.Lys273=) c.*716G>A (n.*716G>A) c.*643G>A (n.*643G>A) c.576G>A (p.Lys192=) c.729G>A (p.Lys243=) c.909G>A (p.Lys303=) | ClinVar dbSNP |
| 7 | g.117536623G>C | CA368977478 | CFTR | c.819G>C (p.Lys273Asn) c.*716G>C (n.*716G>C) c.*643G>C (n.*643G>C) c.576G>C (p.Lys192Asn) c.729G>C (p.Lys243Asn) c.909G>C (p.Lys303Asn) | gnomAD v4 |
| 7 | g.117536623G= | CA1737327184 | CFTR | c.819G= (p.Lys273=) c.*716G= (n.*716G=) c.*643G= (n.*643G=) c.576G= (p.Lys192=) c.729G= (p.Lys243=) c.909G= (p.Lys303=) | |
| 7 | g.117536623G>T | CA368977479 | CFTR | c.819G>T (p.Lys273Asn) c.*716G>T (n.*716G>T) c.*643G>T (n.*643G>T) c.576G>T (p.Lys192Asn) c.729G>T (p.Lys243Asn) c.909G>T (p.Lys303Asn) | |
| 7 | g.117536624G>A | CA368977482 | CFTR | c.820G>A (p.Ala274Thr) c.*717G>A (n.*717G>A) c.*644G>A (n.*644G>A) c.577G>A (p.Ala193Thr) c.730G>A (p.Ala244Thr) c.910G>A (p.Ala304Thr) | gnomAD v4 |
| 7 | g.117536624G>C | CA368977481 | CFTR | c.820G>C (p.Ala274Pro) c.*717G>C (n.*717G>C) c.*644G>C (n.*644G>C) c.577G>C (p.Ala193Pro) c.730G>C (p.Ala244Pro) c.910G>C (p.Ala304Pro) | |
| 7 | g.117536624G>T | CA368977480 | CFTR | c.820G>T (p.Ala274Ser) c.*717G>T (n.*717G>T) c.*644G>T (n.*644G>T) c.577G>T (p.Ala193Ser) c.730G>T (p.Ala244Ser) c.910G>T (p.Ala304Ser) | |
| 7 | g.117536625C>A | CA368977483 | CFTR | c.821C>A (p.Ala274Glu) c.*718C>A (n.*718C>A) c.*645C>A (n.*645C>A) c.578C>A (p.Ala193Glu) c.731C>A (p.Ala244Glu) c.911C>A (p.Ala304Glu) | |
| 7 | g.117536625C= | CA1737327188 | CFTR | c.821C= (p.Ala274=) c.*718C= (n.*718C=) c.*645C= (n.*645C=) c.578C= (p.Ala193=) c.731C= (p.Ala244=) c.911C= (p.Ala304=) | |
| 7 | g.117536625C>G | CA368977484 | CFTR | c.821C>G (p.Ala274Gly) c.*718C>G (n.*718C>G) c.*645C>G (n.*645C>G) c.578C>G (p.Ala193Gly) c.731C>G (p.Ala244Gly) c.911C>G (p.Ala304Gly) | |
| 7 | g.117536625C>T | CA368977485 | CFTR | c.821C>T (p.Ala274Val) c.*718C>T (n.*718C>T) c.*645C>T (n.*645C>T) c.578C>T (p.Ala193Val) c.731C>T (p.Ala244Val) c.911C>T (p.Ala304Val) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117536626A>C | CA457227395 | CFTR | c.822A>C (p.Ala274=) c.*719A>C (n.*719A>C) c.*646A>C (n.*646A>C) c.579A>C (p.Ala193=) c.732A>C (p.Ala244=) c.912A>C (p.Ala304=) | |
| 7 | g.117536626A>G | CA457227396 | CFTR | c.822A>G (p.Ala274=) c.*719A>G (n.*719A>G) c.*646A>G (n.*646A>G) c.579A>G (p.Ala193=) c.732A>G (p.Ala244=) c.912A>G (p.Ala304=) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117536626A>T | CA457227399 | CFTR | c.822A>T (p.Ala274=) c.*719A>T (n.*719A>T) c.*646A>T (n.*646A>T) c.579A>T (p.Ala193=) c.732A>T (p.Ala244=) c.912A>T (p.Ala304=) | |
| 7 | g.117536627T>A | CA368977486 | CFTR | c.823T>A (p.Tyr275Asn) c.*720T>A (n.*720T>A) c.*647T>A (n.*647T>A) c.580T>A (p.Tyr194Asn) c.733T>A (p.Tyr245Asn) c.913T>A (p.Tyr305Asn) | |
| 7 | g.117536627T>C | CA368977487 | CFTR | c.823T>C (p.Tyr275His) c.*720T>C (n.*720T>C) c.*647T>C (n.*647T>C) c.580T>C (p.Tyr194His) c.733T>C (p.Tyr245His) c.913T>C (p.Tyr305His) | |
| 7 | g.117536627T>G | CA368977488 | CFTR | c.823T>G (p.Tyr275Asp) c.*720T>G (n.*720T>G) c.*647T>G (n.*647T>G) c.580T>G (p.Tyr194Asp) c.733T>G (p.Tyr245Asp) c.913T>G (p.Tyr305Asp) | |
| 7 | g.117536628A>C | CA368977489 | CFTR | c.824A>C (p.Tyr275Ser) c.*721A>C (n.*721A>C) c.*648A>C (n.*648A>C) c.581A>C (p.Tyr194Ser) c.734A>C (p.Tyr245Ser) c.914A>C (p.Tyr305Ser) | |
| 7 | g.117536628A>G | CA368977491 | CFTR | c.824A>G (p.Tyr275Cys) c.*721A>G (n.*721A>G) c.*648A>G (n.*648A>G) c.581A>G (p.Tyr194Cys) c.734A>G (p.Tyr245Cys) c.914A>G (p.Tyr305Cys) | |
| 7 | g.117536628A>T | CA368977490 | CFTR | c.824A>T (p.Tyr275Phe) c.*721A>T (n.*721A>T) c.*648A>T (n.*648A>T) c.581A>T (p.Tyr194Phe) c.734A>T (p.Tyr245Phe) c.914A>T (p.Tyr305Phe) | |
| 7 | g.117536629C>A | CA368977492 | CFTR | c.825C>A (p.Tyr275Ter) c.*722C>A (n.*722C>A) c.*649C>A (n.*649C>A) c.582C>A (p.Tyr194Ter) c.735C>A (p.Tyr245Ter) c.915C>A (p.Tyr305Ter) | |
| 7 | g.117536629C= | CA1737327190 | CFTR | c.825C= (p.Tyr275=) c.*722C= (n.*722C=) c.*649C= (n.*649C=) c.582C= (p.Tyr194=) c.735C= (p.Tyr245=) c.915C= (p.Tyr305=) | |
| 7 | g.117536629C>G | CA325712 | CFTR | c.825C>G (p.Tyr275Ter) c.*722C>G (n.*722C>G) c.*649C>G (n.*649C>G) c.582C>G (p.Tyr194Ter) c.735C>G (p.Tyr245Ter) c.915C>G (p.Tyr305Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117536629C>T | CA457227403 | CFTR | c.825C>T (p.Tyr275=) c.*722C>T (n.*722C>T) c.*649C>T (n.*649C>T) c.582C>T (p.Tyr194=) c.735C>T (p.Tyr245=) c.915C>T (p.Tyr305=) | ClinVar |
| 7 | g.117536630T>A | CA368977493 | CFTR | c.826T>A (p.Cys276Ser) c.*723T>A (n.*723T>A) c.*650T>A (n.*650T>A) c.583T>A (p.Cys195Ser) c.736T>A (p.Cys246Ser) c.916T>A (p.Cys306Ser) | COSMIC |
| 7 | g.117536630T>C | CA368977494 | CFTR | c.826T>C (p.Cys276Arg) c.*723T>C (n.*723T>C) c.*650T>C (n.*650T>C) c.583T>C (p.Cys195Arg) c.736T>C (p.Cys246Arg) c.916T>C (p.Cys306Arg) | |
| 7 | g.117536630T>G | CA368977495 | CFTR | c.826T>G (p.Cys276Gly) c.*723T>G (n.*723T>G) c.*650T>G (n.*650T>G) c.583T>G (p.Cys195Gly) c.736T>G (p.Cys246Gly) c.916T>G (p.Cys306Gly) | |
| 7 | g.117536631G>A | CA368977496 | CFTR | c.827G>A (p.Cys276Tyr) c.*724G>A (n.*724G>A) c.*651G>A (n.*651G>A) c.584G>A (p.Cys195Tyr) c.737G>A (p.Cys246Tyr) c.917G>A (p.Cys306Tyr) | dbSNP |
| 7 | g.117536631G>C | CA368977497 | CFTR | c.827G>C (p.Cys276Ser) c.*724G>C (n.*724G>C) c.*651G>C (n.*651G>C) c.584G>C (p.Cys195Ser) c.737G>C (p.Cys246Ser) c.917G>C (p.Cys306Ser) | |
| 7 | g.117536631G= | CA1737327202 | CFTR | c.827G= (p.Cys276=) c.*724G= (n.*724G=) c.*651G= (n.*651G=) c.584G= (p.Cys195=) c.737G= (p.Cys246=) c.917G= (p.Cys306=) | |
| 7 | g.117536631G>T | CA368977498 | CFTR | c.827G>T (p.Cys276Phe) c.*724G>T (n.*724G>T) c.*651G>T (n.*651G>T) c.584G>T (p.Cys195Phe) c.737G>T (p.Cys246Phe) c.917G>T (p.Cys306Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117536632C>A | CA327661 | CFTR | c.828C>A (p.Cys276Ter) c.*725C>A (n.*725C>A) c.*652C>A (n.*652C>A) c.585C>A (p.Cys195Ter) c.738C>A (p.Cys246Ter) c.918C>A (p.Cys306Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117536632C= | CA1737327210 | CFTR | c.828C= (p.Cys276=) c.*725C= (n.*725C=) c.*652C= (n.*652C=) c.585C= (p.Cys195=) c.738C= (p.Cys246=) c.918C= (p.Cys306=) | |
| 7 | g.117536632C>G | CA368977499 | CFTR | c.828C>G (p.Cys276Trp) c.*725C>G (n.*725C>G) c.*652C>G (n.*652C>G) c.585C>G (p.Cys195Trp) c.738C>G (p.Cys246Trp) c.918C>G (p.Cys306Trp) | |
| 7 | g.117536632C>T | CA457227408 | CFTR | c.828C>T (p.Cys276=) c.*725C>T (n.*725C>T) c.*652C>T (n.*652C>T) c.585C>T (p.Cys195=) c.738C>T (p.Cys246=) c.918C>T (p.Cys306=) | ClinVar |
| 7 | g.117536633T>A | CA327663 | CFTR | c.829T>A (p.Trp277Arg) c.*726T>A (n.*726T>A) c.*653T>A (n.*653T>A) c.586T>A (p.Trp196Arg) c.739T>A (p.Trp247Arg) c.919T>A (p.Trp307Arg) | ClinVar dbSNP |
| 7 | g.117536633T>C | CA368977500 | CFTR | c.829T>C (p.Trp277Arg) c.*726T>C (n.*726T>C) c.*653T>C (n.*653T>C) c.586T>C (p.Trp196Arg) c.739T>C (p.Trp247Arg) c.919T>C (p.Trp307Arg) | |
| 7 | g.117536633T>G | CA368977501 | CFTR | c.829T>G (p.Trp277Gly) c.*726T>G (n.*726T>G) c.*653T>G (n.*653T>G) c.586T>G (p.Trp196Gly) c.739T>G (p.Trp247Gly) c.919T>G (p.Trp307Gly) | |
| 7 | g.117536633T= | CA1737327223 | CFTR | c.829T= (p.Trp277=) c.*726T= (n.*726T=) c.*653T= (n.*653T=) c.586T= (p.Trp196=) c.739T= (p.Trp247=) c.919T= (p.Trp307=) | |
| 7 | g.117536634G>A | CA273036 | CFTR | c.830G>A (p.Trp277Ter) c.*727G>A (n.*727G>A) c.*654G>A (n.*654G>A) c.587G>A (p.Trp196Ter) c.740G>A (p.Trp247Ter) c.920G>A (p.Trp307Ter) | ClinVar dbSNP |
| 7 | g.117536634G>C | CA368977503 | CFTR | c.830G>C (p.Trp277Ser) c.*727G>C (n.*727G>C) c.*654G>C (n.*654G>C) c.587G>C (p.Trp196Ser) c.740G>C (p.Trp247Ser) c.920G>C (p.Trp307Ser) | ClinVar gnomAD v4 |
| 7 | g.117536634G= | CA1737327232 | CFTR | c.830G= (p.Trp277=) c.*727G= (n.*727G=) c.*654G= (n.*654G=) c.587G= (p.Trp196=) c.740G= (p.Trp247=) c.920G= (p.Trp307=) | |
| 7 | g.117536634G>T | CA368977502 | CFTR | c.830G>T (p.Trp277Leu) c.*727G>T (n.*727G>T) c.*654G>T (n.*654G>T) c.587G>T (p.Trp196Leu) c.740G>T (p.Trp247Leu) c.920G>T (p.Trp307Leu) | COSMIC |
| 7 | g.117536635G>A | CA368977504 | CFTR | c.831G>A (p.Trp277Ter) c.*728G>A (n.*728G>A) c.*655G>A (n.*655G>A) c.588G>A (p.Trp196Ter) c.741G>A (p.Trp247Ter) c.921G>A (p.Trp307Ter) | ClinVar dbSNP |
| 7 | g.117536635G>C | CA368977505 | CFTR | c.831G>C (p.Trp277Cys) c.*728G>C (n.*728G>C) c.*655G>C (n.*655G>C) c.588G>C (p.Trp196Cys) c.741G>C (p.Trp247Cys) c.921G>C (p.Trp307Cys) | |
| 7 | g.117536635G>T | CA368977506 | CFTR | c.831G>T (p.Trp277Cys) c.*728G>T (n.*728G>T) c.*655G>T (n.*655G>T) c.588G>T (p.Trp196Cys) c.741G>T (p.Trp247Cys) c.921G>T (p.Trp307Cys) | |
| 7 | g.117536635_117536638delinsGGAA | CA1737327244 | CFTR | c.831_834delinsGGAA (p.Trp277=) c.*728_*731delinsGGAA (n.*728_*731delinsGGAA) c.*655_*658delinsGGAA (n.*655_*658delinsGGAA) c.588_591delinsGGAA (p.Trp196=) c.741_744delinsGGAA (p.Trp247=) c.921_924delinsGGAA (p.Trp307=) | |
| 7 | g.117536636G>A | CA368977507 | CFTR | c.832G>A (p.Glu278Lys) c.*729G>A (n.*729G>A) c.*656G>A (n.*656G>A) c.589G>A (p.Glu197Lys) c.742G>A (p.Glu248Lys) c.922G>A (p.Glu308Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117536636G>C | CA368977508 | CFTR | c.832G>C (p.Glu278Gln) c.*729G>C (n.*729G>C) c.*656G>C (n.*656G>C) c.589G>C (p.Glu197Gln) c.742G>C (p.Glu248Gln) c.922G>C (p.Glu308Gln) | |
| 7 | g.117536636G= | CA1737327250 | CFTR | c.832G= (p.Glu278=) c.*729G= (n.*729G=) c.*656G= (n.*656G=) c.589G= (p.Glu197=) c.742G= (p.Glu248=) c.922G= (p.Glu308=) | |
| 7 | g.117536636G>T | CA368977509 | CFTR | c.832G>T (p.Glu278Ter) c.*729G>T (n.*729G>T) c.*656G>T (n.*656G>T) c.589G>T (p.Glu197Ter) c.742G>T (p.Glu248Ter) c.922G>T (p.Glu308Ter) | |
| 7 | g.117536640_117536642del | CA327665 | CFTR | c.836_838del (p.Glu279del) c.*733_*735del (n.*733_*735del) c.*660_*662del (n.*660_*662del) c.593_595del (p.Glu198del) c.746_748del (p.Glu249del) c.926_928del (p.Glu309del) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117536637A>C | CA368977512 | CFTR | c.833A>C (p.Glu278Ala) c.*730A>C (n.*730A>C) c.*657A>C (n.*657A>C) c.590A>C (p.Glu197Ala) c.743A>C (p.Glu248Ala) c.923A>C (p.Glu308Ala) | |
| 7 | g.117536637A>G | CA368977510 | CFTR | c.833A>G (p.Glu278Gly) c.*730A>G (n.*730A>G) c.*657A>G (n.*657A>G) c.590A>G (p.Glu197Gly) c.743A>G (p.Glu248Gly) c.923A>G (p.Glu308Gly) | |
| 7 | g.117536637A>T | CA368977511 | CFTR | c.833A>T (p.Glu278Val) c.*730A>T (n.*730A>T) c.*657A>T (n.*657A>T) c.590A>T (p.Glu197Val) c.743A>T (p.Glu248Val) c.923A>T (p.Glu308Val) | |
| 7 | g.117536638A>C | CA368977513 | CFTR | c.834A>C (p.Glu278Asp) c.*731A>C (n.*731A>C) c.*658A>C (n.*658A>C) c.591A>C (p.Glu197Asp) c.744A>C (p.Glu248Asp) c.924A>C (p.Glu308Asp) | |
| 7 | g.117536638A>G | CA457227413 | CFTR | c.834A>G (p.Glu278=) c.*731A>G (n.*731A>G) c.*658A>G (n.*658A>G) c.591A>G (p.Glu197=) c.744A>G (p.Glu248=) c.924A>G (p.Glu308=) | |
| 7 | g.117536638A>T | CA368977514 | CFTR | c.834A>T (p.Glu278Asp) c.*731A>T (n.*731A>T) c.*658A>T (n.*658A>T) c.591A>T (p.Glu197Asp) c.744A>T (p.Glu248Asp) c.924A>T (p.Glu308Asp) | gnomAD v4 |
| 7 | g.117536639G>A | CA368977515 | CFTR | c.835G>A (p.Glu279Lys) c.*732G>A (n.*732G>A) c.*659G>A (n.*659G>A) c.592G>A (p.Glu198Lys) c.745G>A (p.Glu249Lys) c.925G>A (p.Glu309Lys) | COSMIC |
| 7 | g.117536639G>C | CA368977516 | CFTR | c.835G>C (p.Glu279Gln) c.*732G>C (n.*732G>C) c.*659G>C (n.*659G>C) c.592G>C (p.Glu198Gln) c.745G>C (p.Glu249Gln) c.925G>C (p.Glu309Gln) | |
| 7 | g.117536639G= | CA1737327313 | CFTR | c.835G= (p.Glu279=) c.*732G= (n.*732G=) c.*659G= (n.*659G=) c.592G= (p.Glu198=) c.745G= (p.Glu249=) c.925G= (p.Glu309=) | |
| 7 | g.117536639G>T | CA368977517 | CFTR | c.835G>T (p.Glu279Ter) c.*732G>T (n.*732G>T) c.*659G>T (n.*659G>T) c.592G>T (p.Glu198Ter) c.745G>T (p.Glu249Ter) c.925G>T (p.Glu309Ter) | ClinVar dbSNP gnomAD v2 |
| 7 | g.117536640A>C | CA368977520 | CFTR | c.836A>C (p.Glu279Ala) c.*733A>C (n.*733A>C) c.*660A>C (n.*660A>C) c.593A>C (p.Glu198Ala) c.746A>C (p.Glu249Ala) c.926A>C (p.Glu309Ala) | |
| 7 | g.117536640A>G | CA368977518 | CFTR | c.836A>G (p.Glu279Gly) c.*733A>G (n.*733A>G) c.*660A>G (n.*660A>G) c.593A>G (p.Glu198Gly) c.746A>G (p.Glu249Gly) c.926A>G (p.Glu309Gly) | |
| 7 | g.117536640A>T | CA368977519 | CFTR | c.836A>T (p.Glu279Val) c.*733A>T (n.*733A>T) c.*660A>T (n.*660A>T) c.593A>T (p.Glu198Val) c.746A>T (p.Glu249Val) c.926A>T (p.Glu309Val) | |
| 7 | g.117536641A= | CA1737327323 | CFTR | c.837A= (p.Glu279=) c.*734A= (n.*734A=) c.*661A= (n.*661A=) c.594A= (p.Glu198=) c.747A= (p.Glu249=) c.927A= (p.Glu309=) | |
| 7 | g.117536641A>C | CA368977521 | CFTR | c.837A>C (p.Glu279Asp) c.*734A>C (n.*734A>C) c.*661A>C (n.*661A>C) c.594A>C (p.Glu198Asp) c.747A>C (p.Glu249Asp) c.927A>C (p.Glu309Asp) | |
| 7 | g.117536641A>G | CA457227417 | CFTR | c.837A>G (p.Glu279=) c.*734A>G (n.*734A>G) c.*661A>G (n.*661A>G) c.594A>G (p.Glu198=) c.747A>G (p.Glu249=) c.927A>G (p.Glu309=) | |
| 7 | g.117536641A>T | CA4450839 | CFTR | c.837A>T (p.Glu279Asp) c.*734A>T (n.*734A>T) c.*661A>T (n.*661A>T) c.594A>T (p.Glu198Asp) c.747A>T (p.Glu249Asp) c.927A>T (p.Glu309Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117536642G>A | CA368977522 | CFTR | c.838G>A (p.Ala280Thr) c.*735G>A (n.*735G>A) c.*662G>A (n.*662G>A) c.595G>A (p.Ala199Thr) c.748G>A (p.Ala250Thr) c.928G>A (p.Ala310Thr) | ClinVar dbSNP |
| 7 | g.117536642G>C | CA368977523 | CFTR | c.838G>C (p.Ala280Pro) c.*735G>C (n.*735G>C) c.*662G>C (n.*662G>C) c.595G>C (p.Ala199Pro) c.748G>C (p.Ala250Pro) c.928G>C (p.Ala310Pro) | |
| 7 | g.117536642G= | CA1737327329 | CFTR | c.838G= (p.Ala280=) c.*735G= (n.*735G=) c.*662G= (n.*662G=) c.595G= (p.Ala199=) c.748G= (p.Ala250=) c.928G= (p.Ala310=) | |
| 7 | g.117536642G>T | CA4450840 | CFTR | c.838G>T (p.Ala280Ser) c.*735G>T (n.*735G>T) c.*662G>T (n.*662G>T) c.595G>T (p.Ala199Ser) c.748G>T (p.Ala250Ser) c.928G>T (p.Ala310Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117536643C>A | CA368977524 | CFTR | c.839C>A (p.Ala280Glu) c.*736C>A (n.*736C>A) c.*663C>A (n.*663C>A) c.596C>A (p.Ala199Glu) c.749C>A (p.Ala250Glu) c.929C>A (p.Ala310Glu) | ClinVar |
| 7 | g.117536643C>G | CA368977525 | CFTR | c.839C>G (p.Ala280Gly) c.*736C>G (n.*736C>G) c.*663C>G (n.*663C>G) c.596C>G (p.Ala199Gly) c.749C>G (p.Ala250Gly) c.929C>G (p.Ala310Gly) | ClinVar gnomAD v4 |
| 7 | g.117536643C>T | CA368977526 | CFTR | c.839C>T (p.Ala280Val) c.*736C>T (n.*736C>T) c.*663C>T (n.*663C>T) c.596C>T (p.Ala199Val) c.749C>T (p.Ala250Val) c.929C>T (p.Ala310Val) | |
| 7 | g.117536644A>C | CA457227423 | CFTR | c.840A>C (p.Ala280=) c.*737A>C (n.*737A>C) c.*664A>C (n.*664A>C) c.597A>C (p.Ala199=) c.750A>C (p.Ala250=) c.930A>C (p.Ala310=) | |
| 7 | g.117536644A>G | CA457227420 | CFTR | c.840A>G (p.Ala280=) c.*737A>G (n.*737A>G) c.*664A>G (n.*664A>G) c.597A>G (p.Ala199=) c.750A>G (p.Ala250=) c.930A>G (p.Ala310=) | |
| 7 | g.117536644A>T | CA457227421 | CFTR | c.840A>T (p.Ala280=) c.*737A>T (n.*737A>T) c.*664A>T (n.*664A>T) c.597A>T (p.Ala199=) c.750A>T (p.Ala250=) c.930A>T (p.Ala310=) | |
| 7 | g.117536645A= | CA1737327333 | CFTR | c.841A= (p.Met281=) c.*738A= (n.*738A=) c.*665A= (n.*665A=) c.598A= (p.Met200=) c.751A= (p.Met251=) c.931A= (p.Met311=) | |
| 7 | g.117536645A>C | CA368977527 | CFTR | c.841A>C (p.Met281Leu) c.*738A>C (n.*738A>C) c.*665A>C (n.*665A>C) c.598A>C (p.Met200Leu) c.751A>C (p.Met251Leu) c.931A>C (p.Met311Leu) | |
| 7 | g.117536645A>G | CA4450841 | CFTR | c.841A>G (p.Met281Val) c.*738A>G (n.*738A>G) c.*665A>G (n.*665A>G) c.598A>G (p.Met200Val) c.751A>G (p.Met251Val) c.931A>G (p.Met311Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117536645A>T | CA368977528 | CFTR | c.841A>T (p.Met281Leu) c.*738A>T (n.*738A>T) c.*665A>T (n.*665A>T) c.598A>T (p.Met200Leu) c.751A>T (p.Met251Leu) c.931A>T (p.Met311Leu) | |
| 7 | g.117536646T>A | CA368977529 | CFTR | c.842T>A (p.Met281Lys) c.*739T>A (n.*739T>A) c.*666T>A (n.*666T>A) c.599T>A (p.Met200Lys) c.752T>A (p.Met251Lys) c.932T>A (p.Met311Lys) | |
| 7 | g.117536646T>C | CA327667 | CFTR | c.842T>C (p.Met281Thr) c.*739T>C (n.*739T>C) c.*666T>C (n.*666T>C) c.599T>C (p.Met200Thr) c.752T>C (p.Met251Thr) c.932T>C (p.Met311Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117536646T>G | CA368977530 | CFTR | c.842T>G (p.Met281Arg) c.*739T>G (n.*739T>G) c.*666T>G (n.*666T>G) c.599T>G (p.Met200Arg) c.752T>G (p.Met251Arg) c.932T>G (p.Met311Arg) | |
| 7 | g.117536646T= | CA1737327342 | CFTR | c.842T= (p.Met281=) c.*739T= (n.*739T=) c.*666T= (n.*666T=) c.599T= (p.Met200=) c.752T= (p.Met251=) c.932T= (p.Met311=) | |
| 7 | g.117536647G>A | CA368977531 | CFTR | c.843G>A (p.Met281Ile) c.*740G>A (n.*740G>A) c.*667G>A (n.*667G>A) c.600G>A (p.Met200Ile) c.753G>A (p.Met251Ile) c.933G>A (p.Met311Ile) | COSMIC |
| 7 | g.117536647G>C | CA368977533 | CFTR | c.843G>C (p.Met281Ile) c.*740G>C (n.*740G>C) c.*667G>C (n.*667G>C) c.600G>C (p.Met200Ile) c.753G>C (p.Met251Ile) c.933G>C (p.Met311Ile) | |
| 7 | g.117536647G>T | CA368977532 | CFTR | c.843G>T (p.Met281Ile) c.*740G>T (n.*740G>T) c.*667G>T (n.*667G>T) c.600G>T (p.Met200Ile) c.753G>T (p.Met251Ile) c.933G>T (p.Met311Ile) | |
| 7 | g.117536648G>A | CA368977534 | CFTR | c.844G>A (p.Glu282Lys) c.*741G>A (n.*741G>A) c.*668G>A (n.*668G>A) c.601G>A (p.Glu201Lys) c.754G>A (p.Glu252Lys) c.934G>A (p.Glu312Lys) | |
| 7 | g.117536648G>C | CA368977535 | CFTR | c.844G>C (p.Glu282Gln) c.*741G>C (n.*741G>C) c.*668G>C (n.*668G>C) c.601G>C (p.Glu201Gln) c.754G>C (p.Glu252Gln) c.934G>C (p.Glu312Gln) | |
| 7 | g.117536648G= | CA1737327357 | CFTR | c.844G= (p.Glu282=) c.*741G= (n.*741G=) c.*668G= (n.*668G=) c.601G= (p.Glu201=) c.754G= (p.Glu252=) c.934G= (p.Glu312=) | |
| 7 | g.117536648G>T | CA368977536 | CFTR | c.844G>T (p.Glu282Ter) c.*741G>T (n.*741G>T) c.*668G>T (n.*668G>T) c.601G>T (p.Glu201Ter) c.754G>T (p.Glu252Ter) c.934G>T (p.Glu312Ter) | ClinVar dbSNP |
| 7 | g.117536648_117536649delinsGA | CA1737327352 | CFTR | c.844_845delinsGA (p.Glu282=) c.*741_*742delinsGA (n.*741_*742delinsGA) c.*668_*669delinsGA (n.*668_*669delinsGA) c.601_602delinsGA (p.Glu201=) c.754_755delinsGA (p.Glu252=) c.934_935delinsGA (p.Glu312=) | |
| 7 | g.117536649A>C | CA368977537 | CFTR | c.845A>C (p.Glu282Ala) c.*742A>C (n.*742A>C) c.*669A>C (n.*669A>C) c.602A>C (p.Glu201Ala) c.755A>C (p.Glu252Ala) c.935A>C (p.Glu312Ala) | |
| 7 | g.117536649A>G | CA368977538 | CFTR | c.845A>G (p.Glu282Gly) c.*742A>G (n.*742A>G) c.*669A>G (n.*669A>G) c.602A>G (p.Glu201Gly) c.755A>G (p.Glu252Gly) c.935A>G (p.Glu312Gly) | |
| 7 | g.117536649A>T | CA368977539 | CFTR | c.845A>T (p.Glu282Val) c.*742A>T (n.*742A>T) c.*669A>T (n.*669A>T) c.602A>T (p.Glu201Val) c.755A>T (p.Glu252Val) c.935A>T (p.Glu312Val) | |
| 7 | g.117536654dup | CA274372 | CFTR | c.850dup (p.Met284AsnfsTer3) c.*747dup (n.*747dup) c.*674dup (n.*674dup) c.607dup (p.Met203AsnfsTer3) c.760dup (p.Met254AsnfsTer3) c.940dup (p.Met314AsnfsTer3) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117536654del | CA577214276 | CFTR | c.850del (p.Met284Ter) c.*747del (n.*747del) c.*674del (n.*674del) c.607del (p.Met203Ter) c.760del (p.Met254Ter) c.940del (p.Met314Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117536650A= | CA1737327374 | CFTR | c.846A= (p.Glu282=) c.*743A= (n.*743A=) c.*670A= (n.*670A=) c.603A= (p.Glu201=) c.756A= (p.Glu252=) c.936A= (p.Glu312=) | |
| 7 | g.117536650A>C | CA368977540 | CFTR | c.846A>C (p.Glu282Asp) c.*743A>C (n.*743A>C) c.*670A>C (n.*670A>C) c.603A>C (p.Glu201Asp) c.756A>C (p.Glu252Asp) c.936A>C (p.Glu312Asp) | |
| 7 | g.117536650A>G | CA457227431 | CFTR | c.846A>G (p.Glu282=) c.*743A>G (n.*743A>G) c.*670A>G (n.*670A>G) c.603A>G (p.Glu201=) c.756A>G (p.Glu252=) c.936A>G (p.Glu312=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117536650A>T | CA260260 | CFTR | c.846A>T (p.Glu282Asp) c.*743A>T (n.*743A>T) c.*670A>T (n.*670A>T) c.603A>T (p.Glu201Asp) c.756A>T (p.Glu252Asp) c.936A>T (p.Glu312Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117536651A>C | CA368977541 | CFTR | c.847A>C (p.Lys283Gln) c.*744A>C (n.*744A>C) c.*671A>C (n.*671A>C) c.604A>C (p.Lys202Gln) c.757A>C (p.Lys253Gln) c.937A>C (p.Lys313Gln) | |
| 7 | g.117536651A>G | CA368977542 | CFTR | c.847A>G (p.Lys283Glu) c.*744A>G (n.*744A>G) c.*671A>G (n.*671A>G) c.604A>G (p.Lys202Glu) c.757A>G (p.Lys253Glu) c.937A>G (p.Lys313Glu) | |
| 7 | g.117536651A>T | CA368977543 | CFTR | c.847A>T (p.Lys283Ter) c.*744A>T (n.*744A>T) c.*671A>T (n.*671A>T) c.604A>T (p.Lys202Ter) c.757A>T (p.Lys253Ter) c.937A>T (p.Lys313Ter) | |
| 7 | g.117536651_117536664delinsAAAATGATTGAAAA | CA1737327382 | CFTR | c.847_860delinsAAAATGATTGAAAA (p.Lys283=) c.*744_*757delinsAAAATGATTGAAAA (n.*744_*757delinsAAAATGATTGAAAA) c.*671_*684delinsAAAATGATTGAAAA (n.*671_*684delinsAAAATGATTGAAAA) c.604_617delinsAAAATGATTGAAAA (p.Lys202=) c.757_770delinsAAAATGATTGAAAA (p.Lys253=) c.937_950delinsAAAATGATTGAAAA (p.Lys313=) | |
| 7 | g.117536652A= | CA1737327392 | CFTR | c.848A= (p.Lys283=) c.*745A= (n.*745A=) c.*672A= (n.*672A=) c.605A= (p.Lys202=) c.758A= (p.Lys253=) c.938A= (p.Lys313=) | |
| 7 | g.117536652A>C | CA368977545 | CFTR | c.848A>C (p.Lys283Thr) c.*745A>C (n.*745A>C) c.*672A>C (n.*672A>C) c.605A>C (p.Lys202Thr) c.758A>C (p.Lys253Thr) c.938A>C (p.Lys313Thr) | |
| 7 | g.117536652A>G | CA4450842 | CFTR | c.848A>G (p.Lys283Arg) c.*745A>G (n.*745A>G) c.*672A>G (n.*672A>G) c.605A>G (p.Lys202Arg) c.758A>G (p.Lys253Arg) c.938A>G (p.Lys313Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117536652A>T | CA368977544 | CFTR | c.848A>T (p.Lys283Ile) c.*745A>T (n.*745A>T) c.*672A>T (n.*672A>T) c.605A>T (p.Lys202Ile) c.758A>T (p.Lys253Ile) c.938A>T (p.Lys313Ile) | |
| 7 | g.117536652_117536664delinsTG | CA275389 | CFTR | c.848_860delinsTG (p.Lys283MetfsTer21) c.*745_*757delinsTG (n.*745_*757delinsTG) c.*672_*684delinsTG (n.*672_*684delinsTG) c.605_617delinsTG (p.Lys202MetfsTer21) c.758_770delinsTG (p.Lys253MetfsTer21) c.938_950delinsTG (p.Lys313MetfsTer21) | ClinVar dbSNP |
| 7 | g.117536653A>C | CA368977547 | CFTR | c.849A>C (p.Lys283Asn) c.*746A>C (n.*746A>C) c.*673A>C (n.*673A>C) c.606A>C (p.Lys202Asn) c.759A>C (p.Lys253Asn) c.939A>C (p.Lys313Asn) | |
| 7 | g.117536653A>G | CA457227436 | CFTR | c.849A>G (p.Lys283=) c.*746A>G (n.*746A>G) c.*673A>G (n.*673A>G) c.606A>G (p.Lys202=) c.759A>G (p.Lys253=) c.939A>G (p.Lys313=) | |
| 7 | g.117536653A>T | CA368977546 | CFTR | c.849A>T (p.Lys283Asn) c.*746A>T (n.*746A>T) c.*673A>T (n.*673A>T) c.606A>T (p.Lys202Asn) c.759A>T (p.Lys253Asn) c.939A>T (p.Lys313Asn) | |
| 7 | g.117536654A>C | CA368977548 | CFTR | c.850A>C (p.Met284Leu) c.*747A>C (n.*747A>C) c.*674A>C (n.*674A>C) c.607A>C (p.Met203Leu) c.760A>C (p.Met254Leu) c.940A>C (p.Met314Leu) | |
| 7 | g.117536654A>G | CA368977549 | CFTR | c.850A>G (p.Met284Val) c.*747A>G (n.*747A>G) c.*674A>G (n.*674A>G) c.607A>G (p.Met203Val) c.760A>G (p.Met254Val) c.940A>G (p.Met314Val) | ClinVar |
| 7 | g.117536654A>T | CA368977550 | CFTR | c.850A>T (p.Met284Leu) c.*747A>T (n.*747A>T) c.*674A>T (n.*674A>T) c.607A>T (p.Met203Leu) c.760A>T (p.Met254Leu) c.940A>T (p.Met314Leu) | |
| 7 | g.117536655T>A | CA368977551 | CFTR | c.851T>A (p.Met284Lys) c.*748T>A (n.*748T>A) c.*675T>A (n.*675T>A) c.608T>A (p.Met203Lys) c.761T>A (p.Met254Lys) c.941T>A (p.Met314Lys) | |
| 7 | g.117536655T>C | CA368977552 | CFTR | c.851T>C (p.Met284Thr) c.*748T>C (n.*748T>C) c.*675T>C (n.*675T>C) c.608T>C (p.Met203Thr) c.761T>C (p.Met254Thr) c.941T>C (p.Met314Thr) | ClinVar dbSNP |
| 7 | g.117536655T>G | CA368977553 | CFTR | c.851T>G (p.Met284Arg) c.*748T>G (n.*748T>G) c.*675T>G (n.*675T>G) c.608T>G (p.Met203Arg) c.761T>G (p.Met254Arg) c.941T>G (p.Met314Arg) | gnomAD v4 |
| 7 | g.117536658_117536661del | CA2684617824 | CFTR | c.854_857del (p.Ile285LysfsTer3) c.*751_*754del (n.*751_*754del) c.*678_*681del (n.*678_*681del) c.611_614del (p.Ile204LysfsTer3) c.764_767del (p.Ile255LysfsTer3) c.944_947del (p.Ile315LysfsTer3) | gnomAD v4 |
| 7 | g.117536656G>A | CA368977554 | CFTR | c.852G>A (p.Met284Ile) c.*749G>A (n.*749G>A) c.*676G>A (n.*676G>A) c.609G>A (p.Met203Ile) c.762G>A (p.Met254Ile) c.942G>A (p.Met314Ile) | gnomAD v4 |
| 7 | g.117536656G>C | CA368977555 | CFTR | c.852G>C (p.Met284Ile) c.*749G>C (n.*749G>C) c.*676G>C (n.*676G>C) c.609G>C (p.Met203Ile) c.762G>C (p.Met254Ile) c.942G>C (p.Met314Ile) | |
| 7 | g.117536656G>T | CA368977556 | CFTR | c.852G>T (p.Met284Ile) c.*749G>T (n.*749G>T) c.*676G>T (n.*676G>T) c.609G>T (p.Met203Ile) c.762G>T (p.Met254Ile) c.942G>T (p.Met314Ile) | gnomAD v4 |
| 7 | g.117536657A= | CA1737327402 | CFTR | c.853A= (p.Ile285=) c.*750A= (n.*750A=) c.*677A= (n.*677A=) c.610A= (p.Ile204=) c.763A= (p.Ile255=) c.943A= (p.Ile315=) | |
| 7 | g.117536657A>C | CA368977557 | CFTR | c.853A>C (p.Ile285Leu) c.*750A>C (n.*750A>C) c.*677A>C (n.*677A>C) c.610A>C (p.Ile204Leu) c.763A>C (p.Ile255Leu) c.943A>C (p.Ile315Leu) | |
| 7 | g.117536657A>G | CA368977558 | CFTR | c.853A>G (p.Ile285Val) c.*750A>G (n.*750A>G) c.*677A>G (n.*677A>G) c.610A>G (p.Ile204Val) c.763A>G (p.Ile255Val) c.943A>G (p.Ile315Val) | |
| 7 | g.117536657A>T | CA325714 | CFTR | c.853A>T (p.Ile285Phe) c.*750A>T (n.*750A>T) c.*677A>T (n.*677A>T) c.610A>T (p.Ile204Phe) c.763A>T (p.Ile255Phe) c.943A>T (p.Ile315Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117536658T>A | CA368977560 | CFTR | c.854T>A (p.Ile285Asn) c.*751T>A (n.*751T>A) c.*678T>A (n.*678T>A) c.611T>A (p.Ile204Asn) c.764T>A (p.Ile255Asn) c.944T>A (p.Ile315Asn) | |
| 7 | g.117536658T>C | CA4450843 | CFTR | c.854T>C (p.Ile285Thr) c.*751T>C (n.*751T>C) c.*678T>C (n.*678T>C) c.611T>C (p.Ile204Thr) c.764T>C (p.Ile255Thr) c.944T>C (p.Ile315Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117536658T>G | CA368977559 | CFTR | c.854T>G (p.Ile285Ser) c.*751T>G (n.*751T>G) c.*678T>G (n.*678T>G) c.611T>G (p.Ile204Ser) c.764T>G (p.Ile255Ser) c.944T>G (p.Ile315Ser) | |
| 7 | g.117536658T= | CA1737327410 | CFTR | c.854T= (p.Ile285=) c.*751T= (n.*751T=) c.*678T= (n.*678T=) c.611T= (p.Ile204=) c.764T= (p.Ile255=) c.944T= (p.Ile315=) | |
| 7 | g.117536659T>A | CA457227442 | CFTR | c.855T>A (p.Ile285=) c.*752T>A (n.*752T>A) c.*679T>A (n.*679T>A) c.612T>A (p.Ile204=) c.765T>A (p.Ile255=) c.945T>A (p.Ile315=) | COSMIC |
| 7 | g.117536659T>C | CA457227443 | CFTR | c.855T>C (p.Ile285=) c.*752T>C (n.*752T>C) c.*679T>C (n.*679T>C) c.612T>C (p.Ile204=) c.765T>C (p.Ile255=) c.945T>C (p.Ile315=) | |
| 7 | g.117536659T>G | CA368977561 | CFTR | c.855T>G (p.Ile285Met) c.*752T>G (n.*752T>G) c.*679T>G (n.*679T>G) c.612T>G (p.Ile204Met) c.765T>G (p.Ile255Met) c.945T>G (p.Ile315Met) | |
| 7 | g.117536660G>A | CA368977562 | CFTR | c.856G>A (p.Glu286Lys) c.*753G>A (n.*753G>A) c.*680G>A (n.*680G>A) c.613G>A (p.Glu205Lys) c.766G>A (p.Glu256Lys) c.946G>A (p.Glu316Lys) | |
| 7 | g.117536660G>C | CA368977563 | CFTR | c.856G>C (p.Glu286Gln) c.*753G>C (n.*753G>C) c.*680G>C (n.*680G>C) c.613G>C (p.Glu205Gln) c.766G>C (p.Glu256Gln) c.946G>C (p.Glu316Gln) | |
| 7 | g.117536660G= | CA1737327415 | CFTR | c.856G= (p.Glu286=) c.*753G= (n.*753G=) c.*680G= (n.*680G=) c.613G= (p.Glu205=) c.766G= (p.Glu256=) c.946G= (p.Glu316=) | |
| 7 | g.117536660G>T | CA368977564 | CFTR | c.856G>T (p.Glu286Ter) c.*753G>T (n.*753G>T) c.*680G>T (n.*680G>T) c.613G>T (p.Glu205Ter) c.766G>T (p.Glu256Ter) c.946G>T (p.Glu316Ter) | |
| 7 | g.117536661A>C | CA368977565 | CFTR | c.857A>C (p.Glu286Ala) c.*754A>C (n.*754A>C) c.*681A>C (n.*681A>C) c.614A>C (p.Glu205Ala) c.767A>C (p.Glu256Ala) c.947A>C (p.Glu316Ala) | |
| 7 | g.117536661A>G | CA368977566 | CFTR | c.857A>G (p.Glu286Gly) c.*754A>G (n.*754A>G) c.*681A>G (n.*681A>G) c.614A>G (p.Glu205Gly) c.767A>G (p.Glu256Gly) c.947A>G (p.Glu316Gly) | |
| 7 | g.117536661A>T | CA368977567 | CFTR | c.857A>T (p.Glu286Val) c.*754A>T (n.*754A>T) c.*681A>T (n.*681A>T) c.614A>T (p.Glu205Val) c.767A>T (p.Glu256Val) c.947A>T (p.Glu316Val) | |
| 7 | g.117536664dup | CA325615 | CFTR | c.860dup (p.Asn287LysfsTer21) c.*757dup (n.*757dup) c.*684dup (n.*684dup) c.617dup (p.Asn206LysfsTer21) c.770dup (p.Asn257LysfsTer21) c.950dup (p.Asn317LysfsTer21) | ClinVar dbSNP |
| 7 | g.117536664del | CA2695208306 | CFTR | c.860del (p.Asn287ThrfsTer2) c.*757del (n.*757del) c.*684del (n.*684del) c.617del (p.Asn206ThrfsTer2) c.770del (p.Asn257ThrfsTer2) c.950del (p.Asn317ThrfsTer2) | |
| 7 | g.117536662A>C | CA368977568 | CFTR | c.858A>C (p.Glu286Asp) c.*755A>C (n.*755A>C) c.*682A>C (n.*682A>C) c.615A>C (p.Glu205Asp) c.768A>C (p.Glu256Asp) c.948A>C (p.Glu316Asp) | |
| 7 | g.117536662A>G | CA457227447 | CFTR | c.858A>G (p.Glu286=) c.*755A>G (n.*755A>G) c.*682A>G (n.*682A>G) c.615A>G (p.Glu205=) c.768A>G (p.Glu256=) c.948A>G (p.Glu316=) | |
| 7 | g.117536662A>T | CA368977569 | CFTR | c.858A>T (p.Glu286Asp) c.*755A>T (n.*755A>T) c.*682A>T (n.*682A>T) c.615A>T (p.Glu205Asp) c.768A>T (p.Glu256Asp) c.948A>T (p.Glu316Asp) | |
| 7 | g.117536662_117536667delinsAAACTT | CA1737327429 | CFTR | c.858_863delinsAAACTT (p.Glu286=) c.*755_*760delinsAAACTT (n.*755_*760delinsAAACTT) c.*682_*687delinsAAACTT (n.*682_*687delinsAAACTT) c.615_620delinsAAACTT (p.Glu205=) c.768_773delinsAAACTT (p.Glu256=) c.948_953delinsAAACTT (p.Glu316=) |