| 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.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=) | 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) |