| 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.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) |