UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117527502_117531824del | CA2580076333 | CFTR | c.274-3397_489+710del c.*171-3397_*386+710del c.*98-3397_*313+710del c.31-3397_246+710del c.364-3397_579+710del | ClinVar |
| 7 | g.117530896_117531112delinsTAGGAAGTCACCAAAGCAGTACAGCCTCTCTTACTGGGAAGAATCATAGCTTCCTATGACCCGGATAACAAGGAGGAACGCTCTATCGCGATTTATCTAGGCATAGGCTTATGCCTTCTCTTTATTGTGAGGACACTGCTCCTACACCCAGCCATTTTTGGCCTTCATCACATTGGAATGCAGATGAGAATAGCTATGTTTAGTTTGATTTATAAGA | CA1737359079 | CFTR | c.274-3_487delinsTAGGAAGTCACCAAAGCAGTACAGCCTCTCTTACTGGGAAGAATCATAGCTTCCTATGACCCGGATAACAAGGAGGAACGCTCTATCGCGATTTATCTAGGCATAGGCTTATGCCTTCTCTTTATTGTGAGGACACTGCTCCTACACCCAGCCATTTTTGGCCTTCATCACATTGGAATGCAGATGAGAATAGCTATGTTTAGTTTGATTTATAAGA c.*171-3_*384delinsTAGGAAGTCACCAAAGCAGTACAGCCTCTCTTACTGGGAAGAATCATAGCTTCCTATGACCCGGATAACAAGGAGGAACGCTCTATCGCGATTTATCTAGGCATAGGCTTATGCCTTCTCTTTATTGTGAGGACACTGCTCCTACACCCAGCCATTTTTGGCCTTCATCACATTGGAATGCAGATGAGAATAGCTATGTTTAGTTTGATTTATAAGA c.*98-3_*311delinsTAGGAAGTCACCAAAGCAGTACAGCCTCTCTTACTGGGAAGAATCATAGCTTCCTATGACCCGGATAACAAGGAGGAACGCTCTATCGCGATTTATCTAGGCATAGGCTTATGCCTTCTCTTTATTGTGAGGACACTGCTCCTACACCCAGCCATTTTTGGCCTTCATCACATTGGAATGCAGATGAGAATAGCTATGTTTAGTTTGATTTATAAGA c.31-3_244delinsTAGGAAGTCACCAAAGCAGTACAGCCTCTCTTACTGGGAAGAATCATAGCTTCCTATGACCCGGATAACAAGGAGGAACGCTCTATCGCGATTTATCTAGGCATAGGCTTATGCCTTCTCTTTATTGTGAGGACACTGCTCCTACACCCAGCCATTTTTGGCCTTCATCACATTGGAATGCAGATGAGAATAGCTATGTTTAGTTTGATTTATAAGA c.364-3_577delinsTAGGAAGTCACCAAAGCAGTACAGCCTCTCTTACTGGGAAGAATCATAGCTTCCTATGACCCGGATAACAAGGAGGAACGCTCTATCGCGATTTATCTAGGCATAGGCTTATGCCTTCTCTTTATTGTGAGGACACTGCTCCTACACCCAGCCATTTTTGGCCTTCATCACATTGGAATGCAGATGAGAATAGCTATGTTTAGTTTGATTTATAAGA | |
| 7 | g.117530900_117531115del | CA913189986 | CFTR | c.275_489+1del c.*172_*386+1del c.*99_*313+1del c.32_246+1del c.365_579+1del | ClinVar dbSNP |
| 7 | g.117530900_117534366del | CA913189987 | CFTR | c.275_579+1del c.*172_*476+1del c.*99_*403+1del c.32_336+1del c.275_490-882del c.365_669+1del | ClinVar |
| 7 | g.117531015C>A | CA457448669 | CFTR | c.390C>A (p.Leu130=) c.*287C>A (n.*287C>A) c.*214C>A (n.*214C>A) c.147C>A (p.Leu49=) c.480C>A (p.Leu160=) | |
| 7 | g.117531015C= | CA1737359514 | CFTR | c.390C= (p.Leu130=) c.*287C= (n.*287C=) c.*214C= (n.*214C=) c.147C= (p.Leu49=) c.480C= (p.Leu160=) | |
| 7 | g.117531015C>G | CA457448670 | CFTR | c.390C>G (p.Leu130=) c.*287C>G (n.*287C>G) c.*214C>G (n.*214C>G) c.147C>G (p.Leu49=) c.480C>G (p.Leu160=) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117531015C>T | CA457448671 | CFTR | c.390C>T (p.Leu130=) c.*287C>T (n.*287C>T) c.*214C>T (n.*214C>T) c.147C>T (p.Leu49=) c.480C>T (p.Leu160=) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117531015_117531016delinsCT | CA1737359513 | CFTR | c.390_391delinsCT (p.Leu130=) c.*287_*288delinsCT (n.*287_*288delinsCT) c.*214_*215delinsCT (n.*214_*215delinsCT) c.147_148delinsCT (p.Leu49=) c.480_481delinsCT (p.Leu160=) | |
| 7 | g.117531016T>A | CA368974593 | CFTR | c.391T>A (p.Phe131Ile) c.*288T>A (n.*288T>A) c.*215T>A (n.*215T>A) c.148T>A (p.Phe50Ile) c.481T>A (p.Phe161Ile) | |
| 7 | g.117531016T>C | CA4450715 | CFTR | c.391T>C (p.Phe131Leu) c.*288T>C (n.*288T>C) c.*215T>C (n.*215T>C) c.148T>C (p.Phe50Leu) c.481T>C (p.Phe161Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117531016T>G | CA368974597 | CFTR | c.391T>G (p.Phe131Val) c.*288T>G (n.*288T>G) c.*215T>G (n.*215T>G) c.148T>G (p.Phe50Val) c.481T>G (p.Phe161Val) | |
| 7 | g.117531016T= | CA1737359515 | CFTR | c.391T= (p.Phe131=) c.*288T= (n.*288T=) c.*215T= (n.*215T=) c.148T= (p.Phe50=) c.481T= (p.Phe161=) | |
| 7 | g.117531018del | CA327359 | CFTR | c.393del (p.Phe131LeufsTer3) c.*290del (n.*290del) c.*217del (n.*217del) c.150del (p.Phe50LeufsTer3) c.483del (p.Phe161LeufsTer3) | ClinVar dbSNP |
| 7 | g.117531017T>A | CA368974602 | CFTR | c.392T>A (p.Phe131Tyr) c.*289T>A (n.*289T>A) c.*216T>A (n.*216T>A) c.149T>A (p.Phe50Tyr) c.482T>A (p.Phe161Tyr) | gnomAD v4 |
| 7 | g.117531017T>C | CA368974604 | CFTR | c.392T>C (p.Phe131Ser) c.*289T>C (n.*289T>C) c.*216T>C (n.*216T>C) c.149T>C (p.Phe50Ser) c.482T>C (p.Phe161Ser) | |
| 7 | g.117531017T>G | CA368974606 | CFTR | c.392T>G (p.Phe131Cys) c.*289T>G (n.*289T>G) c.*216T>G (n.*216T>G) c.149T>G (p.Phe50Cys) c.482T>G (p.Phe161Cys) | |
| 7 | g.117531017_117531022delinsTTATTG | CA1737359516 | CFTR | c.392_397delinsTTATTG (p.Phe131=) c.*289_*294delinsTTATTG (n.*289_*294delinsTTATTG) c.*216_*221delinsTTATTG (n.*216_*221delinsTTATTG) c.149_154delinsTTATTG (p.Phe50=) c.482_487delinsTTATTG (p.Phe161=) | |
| 7 | g.117531018T>A | CA368974609 | CFTR | c.393T>A (p.Phe131Leu) c.*290T>A (n.*290T>A) c.*217T>A (n.*217T>A) c.150T>A (p.Phe50Leu) c.483T>A (p.Phe161Leu) | |
| 7 | g.117531018T>C | CA16612013 | CFTR | c.393T>C (p.Phe131=) c.*290T>C (n.*290T>C) c.*217T>C (n.*217T>C) c.150T>C (p.Phe50=) c.483T>C (p.Phe161=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117531018T>G | CA368974612 | CFTR | c.393T>G (p.Phe131Leu) c.*290T>G (n.*290T>G) c.*217T>G (n.*217T>G) c.150T>G (p.Phe50Leu) c.483T>G (p.Phe161Leu) | |
| 7 | g.117531018T= | CA1737359517 | CFTR | c.393T= (p.Phe131=) c.*290T= (n.*290T=) c.*217T= (n.*217T=) c.150T= (p.Phe50=) c.483T= (p.Phe161=) | |
| 7 | g.117531019_117531023del | CA1139660221 | CFTR | c.394_398del (p.Ile132GlufsTer25) c.*291_*295del (n.*291_*295del) c.*218_*222del (n.*218_*222del) c.151_155del (p.Ile51GlufsTer25) c.484_488del (p.Ile162GlufsTer25) | ClinVar dbSNP |
| 7 | g.117531019del | CA2728957964 | CFTR | c.394del (p.Ile132LeufsTer2) c.*291del (n.*291del) c.*218del (n.*218del) c.151del (p.Ile51LeufsTer2) c.484del (p.Ile162LeufsTer2) | |
| 7 | g.117531019A= | CA1737359518 | CFTR | c.394A= (p.Ile132=) c.*291A= (n.*291A=) c.*218A= (n.*218A=) c.151A= (p.Ile51=) c.484A= (p.Ile162=) | |
| 7 | g.117531019A>C | CA368974615 | CFTR | c.394A>C (p.Ile132Leu) c.*291A>C (n.*291A>C) c.*218A>C (n.*218A>C) c.151A>C (p.Ile51Leu) c.484A>C (p.Ile162Leu) | |
| 7 | g.117531019A>G | CA4450716 | CFTR | c.394A>G (p.Ile132Val) c.*291A>G (n.*291A>G) c.*218A>G (n.*218A>G) c.151A>G (p.Ile51Val) c.484A>G (p.Ile162Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117531019A>T | CA368974618 | CFTR | c.394A>T (p.Ile132Phe) c.*291A>T (n.*291A>T) c.*218A>T (n.*218A>T) c.151A>T (p.Ile51Phe) c.484A>T (p.Ile162Phe) | |
| 7 | g.117531019_117531020delinsAT | CA1737359519 | CFTR | c.394_395delinsAT (p.Ile132=) c.*291_*292delinsAT (n.*291_*292delinsAT) c.*218_*219delinsAT (n.*218_*219delinsAT) c.151_152delinsAT (p.Ile51=) c.484_485delinsAT (p.Ile162=) | |
| 7 | g.117531020T>A | CA368974624 | CFTR | c.395T>A (p.Ile132Asn) c.*292T>A (n.*292T>A) c.*219T>A (n.*219T>A) c.152T>A (p.Ile51Asn) c.485T>A (p.Ile162Asn) | |
| 7 | g.117531020T>C | CA368974620 | CFTR | c.395T>C (p.Ile132Thr) c.*292T>C (n.*292T>C) c.*219T>C (n.*219T>C) c.152T>C (p.Ile51Thr) c.485T>C (p.Ile162Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117531020T>G | CA368974622 | CFTR | c.395T>G (p.Ile132Ser) c.*292T>G (n.*292T>G) c.*219T>G (n.*219T>G) c.152T>G (p.Ile51Ser) c.485T>G (p.Ile162Ser) | |
| 7 | g.117531020T= | CA1737359521 | CFTR | c.395T= (p.Ile132=) c.*292T= (n.*292T=) c.*219T= (n.*219T=) c.152T= (p.Ile51=) c.485T= (p.Ile162=) | |
| 7 | g.117531021del | CA1737359520 | CFTR | c.396del (p.Ile132MetfsTer2) c.*293del (n.*293del) c.*220del (n.*220del) c.153del (p.Ile51MetfsTer2) c.486del (p.Ile162MetfsTer2) | ClinVar dbSNP |
| 7 | g.117531021T>A | CA457448674 | CFTR | c.396T>A (p.Ile132=) c.*293T>A (n.*293T>A) c.*220T>A (n.*220T>A) c.153T>A (p.Ile51=) c.486T>A (p.Ile162=) | |
| 7 | g.117531021T>C | CA457448675 | CFTR | c.396T>C (p.Ile132=) c.*293T>C (n.*293T>C) c.*220T>C (n.*220T>C) c.153T>C (p.Ile51=) c.486T>C (p.Ile162=) | ClinVar |
| 7 | g.117531021T>G | CA368974626 | CFTR | c.396T>G (p.Ile132Met) c.*293T>G (n.*293T>G) c.*220T>G (n.*220T>G) c.153T>G (p.Ile51Met) c.486T>G (p.Ile162Met) | gnomAD v4 |
| 7 | g.117531022G>A | CA368974630 | CFTR | c.397G>A (p.Val133Met) c.*294G>A (n.*294G>A) c.*221G>A (n.*221G>A) c.154G>A (p.Val52Met) c.487G>A (p.Val163Met) | |
| 7 | g.117531022G>C | CA368974633 | CFTR | c.397G>C (p.Val133Leu) c.*294G>C (n.*294G>C) c.*221G>C (n.*221G>C) c.154G>C (p.Val52Leu) c.487G>C (p.Val163Leu) | gnomAD v4 |
| 7 | g.117531022G>T | CA368974635 | CFTR | c.397G>T (p.Val133Leu) c.*294G>T (n.*294G>T) c.*221G>T (n.*221G>T) c.154G>T (p.Val52Leu) c.487G>T (p.Val163Leu) | gnomAD v4 |
| 7 | g.117531023T>A | CA368974637 | CFTR | c.398T>A (p.Val133Glu) c.*295T>A (n.*295T>A) c.*222T>A (n.*222T>A) c.155T>A (p.Val52Glu) c.488T>A (p.Val163Glu) | |
| 7 | g.117531023T>C | CA368974639 | CFTR | c.398T>C (p.Val133Ala) c.*295T>C (n.*295T>C) c.*222T>C (n.*222T>C) c.155T>C (p.Val52Ala) c.488T>C (p.Val163Ala) | |
| 7 | g.117531023T>G | CA368974643 | CFTR | c.398T>G (p.Val133Gly) c.*295T>G (n.*295T>G) c.*222T>G (n.*222T>G) c.155T>G (p.Val52Gly) c.488T>G (p.Val163Gly) | |
| 7 | g.117531024G>A | CA457448676 | CFTR | c.399G>A (p.Val133=) c.*296G>A (n.*296G>A) c.*223G>A (n.*223G>A) c.156G>A (p.Val52=) c.489G>A (p.Val163=) | gnomAD v4 |
| 7 | g.117531024G>C | CA457448677 | CFTR | c.399G>C (p.Val133=) c.*296G>C (n.*296G>C) c.*223G>C (n.*223G>C) c.156G>C (p.Val52=) c.489G>C (p.Val163=) | |
| 7 | g.117531024G>T | CA457448678 | CFTR | c.399G>T (p.Val133=) c.*296G>T (n.*296G>T) c.*223G>T (n.*223G>T) c.156G>T (p.Val52=) c.489G>T (p.Val163=) | |
| 7 | g.117531025A>C | CA457448679 | CFTR | c.400A>C (p.Arg134=) c.*297A>C (n.*297A>C) c.*224A>C (n.*224A>C) c.157A>C (p.Arg53=) c.490A>C (p.Arg164=) | ClinVar gnomAD v4 |
| 7 | g.117531025A>G | CA368974645 | CFTR | c.400A>G (p.Arg134Gly) c.*297A>G (n.*297A>G) c.*224A>G (n.*224A>G) c.157A>G (p.Arg53Gly) c.490A>G (p.Arg164Gly) | |
| 7 | g.117531025A>T | CA368974647 | CFTR | c.400A>T (p.Arg134Trp) c.*297A>T (n.*297A>T) c.*224A>T (n.*224A>T) c.157A>T (p.Arg53Trp) c.490A>T (p.Arg164Trp) | |
| 7 | g.117531026G>A | CA368974649 | CFTR | c.401G>A (p.Arg134Lys) c.*298G>A (n.*298G>A) c.*225G>A (n.*225G>A) c.158G>A (p.Arg53Lys) c.491G>A (p.Arg164Lys) | ClinVar dbSNP |
| 7 | g.117531026G>C | CA368974651 | CFTR | c.401G>C (p.Arg134Thr) c.*298G>C (n.*298G>C) c.*225G>C (n.*225G>C) c.158G>C (p.Arg53Thr) c.491G>C (p.Arg164Thr) | |
| 7 | g.117531026G= | CA1737359522 | CFTR | c.401G= (p.Arg134=) c.*298G= (n.*298G=) c.*225G= (n.*225G=) c.158G= (p.Arg53=) c.491G= (p.Arg164=) | |
| 7 | g.117531026G>T | CA368974652 | CFTR | c.401G>T (p.Arg134Met) c.*298G>T (n.*298G>T) c.*225G>T (n.*225G>T) c.158G>T (p.Arg53Met) c.491G>T (p.Arg164Met) | |
| 7 | g.117531027dup | CA913111884 | CFTR | c.402dup (p.Thr135AspfsTer24) c.*299dup (n.*299dup) c.*226dup (n.*226dup) c.159dup (p.Thr54AspfsTer24) c.492dup (p.Thr165AspfsTer24) | |
| 7 | g.117531027G>A | CA457448680 | CFTR | c.402G>A (p.Arg134=) c.*299G>A (n.*299G>A) c.*226G>A (n.*226G>A) c.159G>A (p.Arg53=) c.492G>A (p.Arg164=) | ClinVar gnomAD v4 |
| 7 | g.117531027G>C | CA368974657 | CFTR | c.402G>C (p.Arg134Ser) c.*299G>C (n.*299G>C) c.*226G>C (n.*226G>C) c.159G>C (p.Arg53Ser) c.492G>C (p.Arg164Ser) | |
| 7 | g.117531027G= | CA1737359523 | CFTR | c.402G= (p.Arg134=) c.*299G= (n.*299G=) c.*226G= (n.*226G=) c.159G= (p.Arg53=) c.492G= (p.Arg164=) | |
| 7 | g.117531027G>T | CA368974655 | CFTR | c.402G>T (p.Arg134Ser) c.*299G>T (n.*299G>T) c.*226G>T (n.*226G>T) c.159G>T (p.Arg53Ser) c.492G>T (p.Arg164Ser) | |
| 7 | g.117531028A= | CA1737359524 | CFTR | c.403A= (p.Thr135=) c.*300A= (n.*300A=) c.*227A= (n.*227A=) c.160A= (p.Thr54=) c.493A= (p.Thr165=) | |
| 7 | g.117531028A>C | CA368974660 | CFTR | c.403A>C (p.Thr135Pro) c.*300A>C (n.*300A>C) c.*227A>C (n.*227A>C) c.160A>C (p.Thr54Pro) c.493A>C (p.Thr165Pro) | |
| 7 | g.117531028A>G | CA368974662 | CFTR | c.403A>G (p.Thr135Ala) c.*300A>G (n.*300A>G) c.*227A>G (n.*227A>G) c.160A>G (p.Thr54Ala) c.493A>G (p.Thr165Ala) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117531028A>T | CA4450717 | CFTR | c.403A>T (p.Thr135Ser) c.*300A>T (n.*300A>T) c.*227A>T (n.*227A>T) c.160A>T (p.Thr54Ser) c.493A>T (p.Thr165Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117531030_117531031dup | CA658821271 | CFTR | c.405_406dup (p.Leu136HisfsTer18) c.*302_*303dup (n.*302_*303dup) c.*229_*230dup (n.*229_*230dup) c.162_163dup (p.Leu55HisfsTer18) c.495_496dup (p.Leu166HisfsTer18) | ClinVar dbSNP |
| 7 | g.117531029C>A | CA368974667 | CFTR | c.404C>A (p.Thr135Lys) c.*301C>A (n.*301C>A) c.*228C>A (n.*228C>A) c.161C>A (p.Thr54Lys) c.494C>A (p.Thr165Lys) | |
| 7 | g.117531029C>G | CA368974672 | CFTR | c.404C>G (p.Thr135Arg) c.*301C>G (n.*301C>G) c.*228C>G (n.*228C>G) c.161C>G (p.Thr54Arg) c.494C>G (p.Thr165Arg) | |
| 7 | g.117531029C>T | CA368974674 | CFTR | c.404C>T (p.Thr135Ile) c.*301C>T (n.*301C>T) c.*228C>T (n.*228C>T) c.161C>T (p.Thr54Ile) c.494C>T (p.Thr165Ile) | gnomAD v4 |
| 7 | g.117531030A= | CA1737359525 | CFTR | c.405A= (p.Thr135=) c.*302A= (n.*302A=) c.*229A= (n.*229A=) c.162A= (p.Thr54=) c.495A= (p.Thr165=) | |
| 7 | g.117531030A>C | CA4450718 | CFTR | c.405A>C (p.Thr135=) c.*302A>C (n.*302A>C) c.*229A>C (n.*229A>C) c.162A>C (p.Thr54=) c.495A>C (p.Thr165=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117531030A>G | CA457448682 | CFTR | c.405A>G (p.Thr135=) c.*302A>G (n.*302A>G) c.*229A>G (n.*229A>G) c.162A>G (p.Thr54=) c.495A>G (p.Thr165=) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117531030A>T | CA457448681 | CFTR | c.405A>T (p.Thr135=) c.*302A>T (n.*302A>T) c.*229A>T (n.*229A>T) c.162A>T (p.Thr54=) c.495A>T (p.Thr165=) | |
| 7 | g.117531031C>A | CA368974681 | CFTR | c.406C>A (p.Leu136Met) c.*303C>A (n.*303C>A) c.*230C>A (n.*230C>A) c.163C>A (p.Leu55Met) c.496C>A (p.Leu166Met) | gnomAD v4 |
| 7 | g.117531031C= | CA1737359526 | CFTR | c.406C= (p.Leu136=) c.*303C= (n.*303C=) c.*230C= (n.*230C=) c.163C= (p.Leu55=) c.496C= (p.Leu166=) | |
| 7 | g.117531031C>G | CA368974683 | CFTR | c.406C>G (p.Leu136Val) c.*303C>G (n.*303C>G) c.*230C>G (n.*230C>G) c.163C>G (p.Leu55Val) c.496C>G (p.Leu166Val) | |
| 7 | g.117531031C>T | CA457448683 | CFTR | c.406C>T (p.Leu136=) c.*303C>T (n.*303C>T) c.*230C>T (n.*230C>T) c.163C>T (p.Leu55=) c.496C>T (p.Leu166=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117531032T>A | CA368974685 | CFTR | c.407T>A (p.Leu136Gln) c.*304T>A (n.*304T>A) c.*231T>A (n.*231T>A) c.164T>A (p.Leu55Gln) c.497T>A (p.Leu166Gln) | gnomAD v4 |
| 7 | g.117531032T>C | CA368974686 | CFTR | c.407T>C (p.Leu136Pro) c.*304T>C (n.*304T>C) c.*231T>C (n.*231T>C) c.164T>C (p.Leu55Pro) c.497T>C (p.Leu166Pro) | ClinVar dbSNP |
| 7 | g.117531032T>G | CA368974690 | CFTR | c.407T>G (p.Leu136Arg) c.*304T>G (n.*304T>G) c.*231T>G (n.*231T>G) c.164T>G (p.Leu55Arg) c.497T>G (p.Leu166Arg) | ClinVar dbSNP |
| 7 | g.117531032T= | CA1737359527 | CFTR | c.407T= (p.Leu136=) c.*304T= (n.*304T=) c.*231T= (n.*231T=) c.164T= (p.Leu55=) c.497T= (p.Leu166=) | |
| 7 | g.117531033G>A | CA457448686 | CFTR | c.408G>A (p.Leu136=) c.*305G>A (n.*305G>A) c.*232G>A (n.*232G>A) c.165G>A (p.Leu55=) c.498G>A (p.Leu166=) | dbSNP |
| 7 | g.117531033G>C | CA457448684 | CFTR | c.408G>C (p.Leu136=) c.*305G>C (n.*305G>C) c.*232G>C (n.*232G>C) c.165G>C (p.Leu55=) c.498G>C (p.Leu166=) | ClinVar gnomAD v4 |
| 7 | g.117531033G= | CA1737359528 | CFTR | c.408G= (p.Leu136=) c.*305G= (n.*305G=) c.*232G= (n.*232G=) c.165G= (p.Leu55=) c.498G= (p.Leu166=) | |
| 7 | g.117531033G>T | CA457448685 | CFTR | c.408G>T (p.Leu136=) c.*305G>T (n.*305G>T) c.*232G>T (n.*232G>T) c.165G>T (p.Leu55=) c.498G>T (p.Leu166=) | |
| 7 | g.117531033_117531034delinsGC | CA1737359529 | CFTR | c.408_409delinsGC (p.Leu136=) c.*305_*306delinsGC (n.*305_*306delinsGC) c.*232_*233delinsGC (n.*232_*233delinsGC) c.165_166delinsGC (p.Leu55=) c.498_499delinsGC (p.Leu166=) | |
| 7 | g.117531033_117531037delinsGCTCC | CA1737359530 | CFTR | c.408_412delinsGCTCC (p.Leu136=) c.*305_*309delinsGCTCC (n.*305_*309delinsGCTCC) c.*232_*236delinsGCTCC (n.*232_*236delinsGCTCC) c.165_169delinsGCTCC (p.Leu55=) c.498_502delinsGCTCC (p.Leu166=) | |
| 7 | g.117531034del | CA327397 | CFTR | c.409del (p.Leu137SerfsTer16) c.*306del (n.*306del) c.*233del (n.*233del) c.166del (p.Leu56SerfsTer16) c.499del (p.Leu167SerfsTer16) | ClinVar dbSNP |
| 7 | g.117531034C>A | CA368974700 | CFTR | c.409C>A (p.Leu137Ile) c.*306C>A (n.*306C>A) c.*233C>A (n.*233C>A) c.166C>A (p.Leu56Ile) c.499C>A (p.Leu167Ile) | |
| 7 | g.117531034C>G | CA368974698 | CFTR | c.409C>G (p.Leu137Val) c.*306C>G (n.*306C>G) c.*233C>G (n.*233C>G) c.166C>G (p.Leu56Val) c.499C>G (p.Leu167Val) | |
| 7 | g.117531034C>T | CA368974701 | CFTR | c.409C>T (p.Leu137Phe) c.*306C>T (n.*306C>T) c.*233C>T (n.*233C>T) c.166C>T (p.Leu56Phe) c.499C>T (p.Leu167Phe) | gnomAD v4 COSMIC |
| 7 | g.117531034_117531037del | CA327396 | CFTR | c.409_412del (p.Leu137TyrfsTer15) c.*306_*309del (n.*306_*309del) c.*233_*236del (n.*233_*236del) c.166_169del (p.Leu56TyrfsTer15) c.499_502del (p.Leu167TyrfsTer15) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117531034_117531041delinsCTCCTACA | CA1737359531 | CFTR | c.409_416delinsCTCCTACA (p.Leu137=) c.*306_*313delinsCTCCTACA (n.*306_*313delinsCTCCTACA) c.*233_*240delinsCTCCTACA (n.*233_*240delinsCTCCTACA) c.166_173delinsCTCCTACA (p.Leu56=) c.499_506delinsCTCCTACA (p.Leu167=) | |
| 7 | g.117531035T>A | CA327400 | CFTR | c.410T>A (p.Leu137His) c.*307T>A (n.*307T>A) c.*234T>A (n.*234T>A) c.167T>A (p.Leu56His) c.500T>A (p.Leu167His) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117531035T>C | CA164943766 | CFTR | c.410T>C (p.Leu137Pro) c.*307T>C (n.*307T>C) c.*234T>C (n.*234T>C) c.167T>C (p.Leu56Pro) c.500T>C (p.Leu167Pro) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117531035T>G | CA327402 | CFTR | c.410T>G (p.Leu137Arg) c.*307T>G (n.*307T>G) c.*234T>G (n.*234T>G) c.167T>G (p.Leu56Arg) c.500T>G (p.Leu167Arg) | dbSNP |
| 7 | g.117531035T= | CA1737359532 | CFTR | c.410T= (p.Leu137=) c.*307T= (n.*307T=) c.*234T= (n.*234T=) c.167T= (p.Leu56=) c.500T= (p.Leu167=) | |
| 7 | g.117531035_117531041del | CA915945472 | CFTR | c.410_416del (p.Leu137ProfsTer14) c.*307_*313del (n.*307_*313del) c.*234_*240del (n.*234_*240del) c.167_173del (p.Leu56ProfsTer14) c.500_506del (p.Leu167ProfsTer14) | ClinVar dbSNP |
| 7 | g.117531036C>A | CA457448687 | CFTR | c.411C>A (p.Leu137=) c.*308C>A (n.*308C>A) c.*235C>A (n.*235C>A) c.168C>A (p.Leu56=) c.501C>A (p.Leu167=) | |
| 7 | g.117531036C= | CA1737359533 | CFTR | c.411C= (p.Leu137=) c.*308C= (n.*308C=) c.*235C= (n.*235C=) c.168C= (p.Leu56=) c.501C= (p.Leu167=) | |
| 7 | g.117531036C>G | CA457448688 | CFTR | c.411C>G (p.Leu137=) c.*308C>G (n.*308C>G) c.*235C>G (n.*235C>G) c.168C>G (p.Leu56=) c.501C>G (p.Leu167=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117531036C>T | CA457448689 | CFTR | c.411C>T (p.Leu137=) c.*308C>T (n.*308C>T) c.*235C>T (n.*235C>T) c.168C>T (p.Leu56=) c.501C>T (p.Leu167=) | ClinVar gnomAD v4 |
| 7 | g.117531037C>A | CA368974717 | CFTR | c.412C>A (p.Leu138Ile) c.*309C>A (n.*309C>A) c.*236C>A (n.*236C>A) c.169C>A (p.Leu57Ile) c.502C>A (p.Leu168Ile) | |
| 7 | g.117531037C= | CA1737359534 | CFTR | c.412C= (p.Leu138=) c.*309C= (n.*309C=) c.*236C= (n.*236C=) c.169C= (p.Leu57=) c.502C= (p.Leu168=) | |
| 7 | g.117531037C>G | CA368974718 | CFTR | c.412C>G (p.Leu138Val) c.*309C>G (n.*309C>G) c.*236C>G (n.*236C>G) c.169C>G (p.Leu57Val) c.502C>G (p.Leu168Val) | |
| 7 | g.117531037C>T | CA457448690 | CFTR | c.412C>T (p.Leu138=) c.*309C>T (n.*309C>T) c.*236C>T (n.*236C>T) c.169C>T (p.Leu57=) c.502C>T (p.Leu168=) | |
| 7 | g.117531038_117531040dup | CA327427 | CFTR | c.413_415dup (p.Leu138_His139insLeu) c.*310_*312dup (n.*310_*312dup) c.*237_*239dup (n.*237_*239dup) c.170_172dup (p.Leu57_His58insLeu) c.503_505dup (p.Leu168_His169insLeu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117531037_117531038insACT | CA327416 | CFTR | c.412_413insACT (p.Leu137_Leu138insHis) c.*309_*310insACT (n.*309_*310insACT) c.*236_*237insACT (n.*236_*237insACT) c.169_170insACT (p.Leu56_Leu57insHis) c.502_503insACT (p.Leu167_Leu168insHis) | ClinVar dbSNP |
| 7 | g.117531038T>A | CA368974724 | CFTR | c.413T>A (p.Leu138Gln) c.*310T>A (n.*310T>A) c.*237T>A (n.*237T>A) c.170T>A (p.Leu57Gln) c.503T>A (p.Leu168Gln) | |
| 7 | g.117531038T>C | CA164943773 | CFTR | c.413T>C (p.Leu138Pro) c.*310T>C (n.*310T>C) c.*237T>C (n.*237T>C) c.170T>C (p.Leu57Pro) c.503T>C (p.Leu168Pro) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117531038T>G | CA368974721 | CFTR | c.413T>G (p.Leu138Arg) c.*310T>G (n.*310T>G) c.*237T>G (n.*237T>G) c.170T>G (p.Leu57Arg) c.503T>G (p.Leu168Arg) | gnomAD v4 |
| 7 | g.117531038T= | CA1737359539 | CFTR | c.413T= (p.Leu138=) c.*310T= (n.*310T=) c.*237T= (n.*237T=) c.170T= (p.Leu57=) c.503T= (p.Leu168=) | |
| 7 | g.117531039A>C | CA457448693 | CFTR | c.414A>C (p.Leu138=) c.*311A>C (n.*311A>C) c.*238A>C (n.*238A>C) c.171A>C (p.Leu57=) c.504A>C (p.Leu168=) | |
| 7 | g.117531039A>G | CA457448691 | CFTR | c.414A>G (p.Leu138=) c.*311A>G (n.*311A>G) c.*238A>G (n.*238A>G) c.171A>G (p.Leu57=) c.504A>G (p.Leu168=) | |
| 7 | g.117531039A>T | CA457448692 | CFTR | c.414A>T (p.Leu138=) c.*311A>T (n.*311A>T) c.*238A>T (n.*238A>T) c.171A>T (p.Leu57=) c.504A>T (p.Leu168=) | |
| 7 | g.117531040C>A | CA368974727 | CFTR | c.415C>A (p.His139Asn) c.*312C>A (n.*312C>A) c.*239C>A (n.*239C>A) c.172C>A (p.His58Asn) c.505C>A (p.His169Asn) | |
| 7 | g.117531040C= | CA1737359545 | CFTR | c.415C= (p.His139=) c.*312C= (n.*312C=) c.*239C= (n.*239C=) c.172C= (p.His58=) c.505C= (p.His169=) | |
| 7 | g.117531040C>G | CA368974729 | CFTR | c.415C>G (p.His139Asp) c.*312C>G (n.*312C>G) c.*239C>G (n.*239C>G) c.172C>G (p.His58Asp) c.505C>G (p.His169Asp) | gnomAD v4 |
| 7 | g.117531040C>T | CA368974732 | CFTR | c.415C>T (p.His139Tyr) c.*312C>T (n.*312C>T) c.*239C>T (n.*239C>T) c.172C>T (p.His58Tyr) c.505C>T (p.His169Tyr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117531040dup | CA2684617327 | CFTR | c.415dup (p.His139ProfsTer20) c.*312dup (n.*312dup) c.*239dup (n.*239dup) c.172dup (p.His58ProfsTer20) c.505dup (p.His169ProfsTer20) | gnomAD v4 |
| 7 | g.117531040_117531041insGA | CA327429 | CFTR | c.415_416insGA (p.His139ArgfsTer15) c.*312_*313insGA (n.*312_*313insGA) c.*239_*240insGA (n.*239_*240insGA) c.172_173insGA (p.His58ArgfsTer15) c.505_506insGA (p.His169ArgfsTer15) | dbSNP |
| 7 | g.117531040_117531041insTA | CA2695208297 | CFTR | c.415_416insTA (p.His139LeufsTer15) c.*312_*313insTA (n.*312_*313insTA) c.*239_*240insTA (n.*239_*240insTA) c.172_173insTA (p.His58LeufsTer15) c.505_506insTA (p.His169LeufsTer15) | |
| 7 | g.117531041A= | CA1737359552 | CFTR | c.416A= (p.His139=) c.*313A= (n.*313A=) c.*240A= (n.*240A=) c.173A= (p.His58=) c.506A= (p.His169=) | |
| 7 | g.117531041A>C | CA368974738 | CFTR | c.416A>C (p.His139Pro) c.*313A>C (n.*313A>C) c.*240A>C (n.*240A>C) c.173A>C (p.His58Pro) c.506A>C (p.His169Pro) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117531041A>G | CA327434 | CFTR | c.416A>G (p.His139Arg) c.*313A>G (n.*313A>G) c.*240A>G (n.*240A>G) c.173A>G (p.His58Arg) c.506A>G (p.His169Arg) | ClinVar dbSNP |
| 7 | g.117531041A>T | CA327435 | CFTR | c.416A>T (p.His139Leu) c.*313A>T (n.*313A>T) c.*240A>T (n.*240A>T) c.173A>T (p.His58Leu) c.506A>T (p.His169Leu) | ClinVar dbSNP |
| 7 | g.117531042C>A | CA368974741 | CFTR | c.417C>A (p.His139Gln) c.*314C>A (n.*314C>A) c.*241C>A (n.*241C>A) c.174C>A (p.His58Gln) c.507C>A (p.His169Gln) | |
| 7 | g.117531042C= | CA1737359565 | CFTR | c.417C= (p.His139=) c.*314C= (n.*314C=) c.*241C= (n.*241C=) c.174C= (p.His58=) c.507C= (p.His169=) | |
| 7 | g.117531042C>G | CA368974745 | CFTR | c.417C>G (p.His139Gln) c.*314C>G (n.*314C>G) c.*241C>G (n.*241C>G) c.174C>G (p.His58Gln) c.507C>G (p.His169Gln) | |
| 7 | g.117531042C>T | CA4450719 | CFTR | c.417C>T (p.His139=) c.*314C>T (n.*314C>T) c.*241C>T (n.*241C>T) c.174C>T (p.His58=) c.507C>T (p.His169=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117531043C>A | CA368974750 | CFTR | c.418C>A (p.Pro140Thr) c.*315C>A (n.*315C>A) c.*242C>A (n.*242C>A) c.175C>A (p.Pro59Thr) c.508C>A (p.Pro170Thr) | |
| 7 | g.117531043C= | CA1737359568 | CFTR | c.418C= (p.Pro140=) c.*315C= (n.*315C=) c.*242C= (n.*242C=) c.175C= (p.Pro59=) c.508C= (p.Pro170=) | |
| 7 | g.117531043C>G | CA368974752 | CFTR | c.418C>G (p.Pro140Ala) c.*315C>G (n.*315C>G) c.*242C>G (n.*242C>G) c.175C>G (p.Pro59Ala) c.508C>G (p.Pro170Ala) | ClinVar |
| 7 | g.117531043C>T | CA327438 | CFTR | c.418C>T (p.Pro140Ser) c.*315C>T (n.*315C>T) c.*242C>T (n.*242C>T) c.175C>T (p.Pro59Ser) c.508C>T (p.Pro170Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117531044C>A | CA368974753 | CFTR | c.419C>A (p.Pro140Gln) c.*316C>A (n.*316C>A) c.*243C>A (n.*243C>A) c.176C>A (p.Pro59Gln) c.509C>A (p.Pro170Gln) | dbSNP |
| 7 | g.117531044C= | CA1737359574 | CFTR | c.419C= (p.Pro140=) c.*316C= (n.*316C=) c.*243C= (n.*243C=) c.176C= (p.Pro59=) c.509C= (p.Pro170=) | |
| 7 | g.117531044C>G | CA4450720 | CFTR | c.419C>G (p.Pro140Arg) c.*316C>G (n.*316C>G) c.*243C>G (n.*243C>G) c.176C>G (p.Pro59Arg) c.509C>G (p.Pro170Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117531044C>T | CA327444 | CFTR | c.419C>T (p.Pro140Leu) c.*316C>T (n.*316C>T) c.*243C>T (n.*243C>T) c.176C>T (p.Pro59Leu) c.509C>T (p.Pro170Leu) | ClinVar dbSNP COSMIC |
| 7 | g.117531045A>C | CA457448694 | CFTR | c.420A>C (p.Pro140=) c.*317A>C (n.*317A>C) c.*244A>C (n.*244A>C) c.177A>C (p.Pro59=) c.510A>C (p.Pro170=) | |
| 7 | g.117531045A>G | CA457448695 | CFTR | c.420A>G (p.Pro140=) c.*317A>G (n.*317A>G) c.*244A>G (n.*244A>G) c.177A>G (p.Pro59=) c.510A>G (p.Pro170=) | |
| 7 | g.117531045A>T | CA457448696 | CFTR | c.420A>T (p.Pro140=) c.*317A>T (n.*317A>T) c.*244A>T (n.*244A>T) c.177A>T (p.Pro59=) c.510A>T (p.Pro170=) | |
| 7 | g.117531045dup | CA327455 | CFTR | c.420dup (p.Ala141SerfsTer18) c.*317dup (n.*317dup) c.*244dup (n.*244dup) c.177dup (p.Ala60SerfsTer18) c.510dup (p.Ala171SerfsTer18) | dbSNP |
| 7 | g.117531046G>A | CA368974754 | CFTR | c.421G>A (p.Ala141Thr) c.*318G>A (n.*318G>A) c.*245G>A (n.*245G>A) c.178G>A (p.Ala60Thr) c.511G>A (p.Ala171Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117531046G>C | CA368974755 | CFTR | c.421G>C (p.Ala141Pro) c.*318G>C (n.*318G>C) c.*245G>C (n.*245G>C) c.178G>C (p.Ala60Pro) c.511G>C (p.Ala171Pro) | |
| 7 | g.117531046G= | CA1737359580 | CFTR | c.421G= (p.Ala141=) c.*318G= (n.*318G=) c.*245G= (n.*245G=) c.178G= (p.Ala60=) c.511G= (p.Ala171=) | |
| 7 | g.117531046G>T | CA368974756 | CFTR | c.421G>T (p.Ala141Ser) c.*318G>T (n.*318G>T) c.*245G>T (n.*245G>T) c.178G>T (p.Ala60Ser) c.511G>T (p.Ala171Ser) | |
| 7 | g.117531047C>A | CA327458 | CFTR | c.422C>A (p.Ala141Asp) c.*319C>A (n.*319C>A) c.*246C>A (n.*246C>A) c.179C>A (p.Ala60Asp) c.512C>A (p.Ala171Asp) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117531047C= | CA1737359584 | CFTR | c.422C= (p.Ala141=) c.*319C= (n.*319C=) c.*246C= (n.*246C=) c.179C= (p.Ala60=) c.512C= (p.Ala171=) | |
| 7 | g.117531047C>G | CA368974757 | CFTR | c.422C>G (p.Ala141Gly) c.*319C>G (n.*319C>G) c.*246C>G (n.*246C>G) c.179C>G (p.Ala60Gly) c.512C>G (p.Ala171Gly) | gnomAD v4 |
| 7 | g.117531047C>T | CA368974758 | CFTR | c.422C>T (p.Ala141Val) c.*319C>T (n.*319C>T) c.*246C>T (n.*246C>T) c.179C>T (p.Ala60Val) c.512C>T (p.Ala171Val) | |
| 7 | g.117531048C>A | CA457448697 | CFTR | c.423C>A (p.Ala141=) c.*320C>A (n.*320C>A) c.*247C>A (n.*247C>A) c.180C>A (p.Ala60=) c.513C>A (p.Ala171=) | |
| 7 | g.117531048C= | CA1737359589 | CFTR | c.423C= (p.Ala141=) c.*320C= (n.*320C=) c.*247C= (n.*247C=) c.180C= (p.Ala60=) c.513C= (p.Ala171=) | |
| 7 | g.117531048C>G | CA457448698 | CFTR | c.423C>G (p.Ala141=) c.*320C>G (n.*320C>G) c.*247C>G (n.*247C>G) c.180C>G (p.Ala60=) c.513C>G (p.Ala171=) | |
| 7 | g.117531048C>T | CA457448699 | CFTR | c.423C>T (p.Ala141=) c.*320C>T (n.*320C>T) c.*247C>T (n.*247C>T) c.180C>T (p.Ala60=) c.513C>T (p.Ala171=) | ClinVar dbSNP COSMIC |
| 7 | g.117531048_117531049delinsCA | CA1737359591 | CFTR | c.423_424delinsCA (p.Ala141=) c.*320_*321delinsCA (n.*320_*321delinsCA) c.*247_*248delinsCA (n.*247_*248delinsCA) c.180_181delinsCA (p.Ala60=) c.513_514delinsCA (p.Ala171=) | |
| 7 | g.117531049del | CA325540 | CFTR | c.424del (p.Ile142PhefsTer11) c.*321del (n.*321del) c.*248del (n.*248del) c.181del (p.Ile61PhefsTer11) c.514del (p.Ile172PhefsTer11) | ClinVar dbSNP |
| 7 | g.117531049A= | CA1737359597 | CFTR | c.424A= (p.Ile142=) c.*321A= (n.*321A=) c.*248A= (n.*248A=) c.181A= (p.Ile61=) c.514A= (p.Ile172=) | |
| 7 | g.117531049A>C | CA368974759 | CFTR | c.424A>C (p.Ile142Leu) c.*321A>C (n.*321A>C) c.*248A>C (n.*248A>C) c.181A>C (p.Ile61Leu) c.514A>C (p.Ile172Leu) | |
| 7 | g.117531049A>G | CA368974760 | CFTR | c.424A>G (p.Ile142Val) c.*321A>G (n.*321A>G) c.*248A>G (n.*248A>G) c.181A>G (p.Ile61Val) c.514A>G (p.Ile172Val) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117531049A>T | CA368974761 | CFTR | c.424A>T (p.Ile142Phe) c.*321A>T (n.*321A>T) c.*248A>T (n.*248A>T) c.181A>T (p.Ile61Phe) c.514A>T (p.Ile172Phe) | |
| 7 | g.117531049_117531050delinsAT | CA1737359595 | CFTR | c.424_425delinsAT (p.Ile142=) c.*321_*322delinsAT (n.*321_*322delinsAT) c.*248_*249delinsAT (n.*248_*249delinsAT) c.181_182delinsAT (p.Ile61=) c.514_515delinsAT (p.Ile172=) | |
| 7 | g.117531050T>A | CA368974765 | CFTR | c.425T>A (p.Ile142Asn) c.*322T>A (n.*322T>A) c.*249T>A (n.*249T>A) c.182T>A (p.Ile61Asn) c.515T>A (p.Ile172Asn) | |
| 7 | g.117531050T>C | CA368974768 | CFTR | c.425T>C (p.Ile142Thr) c.*322T>C (n.*322T>C) c.*249T>C (n.*249T>C) c.182T>C (p.Ile61Thr) c.515T>C (p.Ile172Thr) | |
| 7 | g.117531050T>G | CA368974770 | CFTR | c.425T>G (p.Ile142Ser) c.*322T>G (n.*322T>G) c.*249T>G (n.*249T>G) c.182T>G (p.Ile61Ser) c.515T>G (p.Ile172Ser) | ClinVar |
| 7 | g.117531054del | CA325541 | CFTR | c.429del (p.Phe143LeufsTer10) c.*326del (n.*326del) c.*253del (n.*253del) c.186del (p.Phe62LeufsTer10) c.519del (p.Phe173LeufsTer10) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117531051T>A | CA457448700 | CFTR | c.426T>A (p.Ile142=) c.*323T>A (n.*323T>A) c.*250T>A (n.*250T>A) c.183T>A (p.Ile61=) c.516T>A (p.Ile172=) | |
| 7 | g.117531051T>C | CA457448701 | CFTR | c.426T>C (p.Ile142=) c.*323T>C (n.*323T>C) c.*250T>C (n.*250T>C) c.183T>C (p.Ile61=) c.516T>C (p.Ile172=) | ClinVar dbSNP |
| 7 | g.117531051T>G | CA368974778 | CFTR | c.426T>G (p.Ile142Met) c.*323T>G (n.*323T>G) c.*250T>G (n.*250T>G) c.183T>G (p.Ile61Met) c.516T>G (p.Ile172Met) | |
| 7 | g.117531051T= | CA1737359604 | CFTR | c.426T= (p.Ile142=) c.*323T= (n.*323T=) c.*250T= (n.*250T=) c.183T= (p.Ile61=) c.516T= (p.Ile172=) | |
| 7 | g.117531052T>A | CA368974780 | CFTR | c.427T>A (p.Phe143Ile) c.*324T>A (n.*324T>A) c.*251T>A (n.*251T>A) c.184T>A (p.Phe62Ile) c.517T>A (p.Phe173Ile) | |
| 7 | g.117531052T>C | CA368974783 | CFTR | c.427T>C (p.Phe143Leu) c.*324T>C (n.*324T>C) c.*251T>C (n.*251T>C) c.184T>C (p.Phe62Leu) c.517T>C (p.Phe173Leu) | |
| 7 | g.117531052T>G | CA368974785 | CFTR | c.427T>G (p.Phe143Val) c.*324T>G (n.*324T>G) c.*251T>G (n.*251T>G) c.184T>G (p.Phe62Val) c.517T>G (p.Phe173Val) | ClinVar |
| 7 | g.117531053T>A | CA368974792 | CFTR | c.428T>A (p.Phe143Tyr) c.*325T>A (n.*325T>A) c.*252T>A (n.*252T>A) c.185T>A (p.Phe62Tyr) c.518T>A (p.Phe173Tyr) | |
| 7 | g.117531053T>C | CA368974791 | CFTR | c.428T>C (p.Phe143Ser) c.*325T>C (n.*325T>C) c.*252T>C (n.*252T>C) c.185T>C (p.Phe62Ser) c.518T>C (p.Phe173Ser) | |
| 7 | g.117531053T>G | CA368974790 | CFTR | c.428T>G (p.Phe143Cys) c.*325T>G (n.*325T>G) c.*252T>G (n.*252T>G) c.185T>G (p.Phe62Cys) c.518T>G (p.Phe173Cys) | |
| 7 | g.117531054T>A | CA368974794 | CFTR | c.429T>A (p.Phe143Leu) c.*326T>A (n.*326T>A) c.*253T>A (n.*253T>A) c.186T>A (p.Phe62Leu) c.519T>A (p.Phe173Leu) | |
| 7 | g.117531054T>C | CA457448702 | CFTR | c.429T>C (p.Phe143=) c.*326T>C (n.*326T>C) c.*253T>C (n.*253T>C) c.186T>C (p.Phe62=) c.519T>C (p.Phe173=) | |
| 7 | g.117531054T>G | CA368974795 | CFTR | c.429T>G (p.Phe143Leu) c.*326T>G (n.*326T>G) c.*253T>G (n.*253T>G) c.186T>G (p.Phe62Leu) c.519T>G (p.Phe173Leu) | |
| 7 | g.117531055G>A | CA368974796 | CFTR | c.430G>A (p.Gly144Ser) c.*327G>A (n.*327G>A) c.*254G>A (n.*254G>A) c.187G>A (p.Gly63Ser) c.520G>A (p.Gly174Ser) | |
| 7 | g.117531055G>C | CA368974799 | CFTR | c.430G>C (p.Gly144Arg) c.*327G>C (n.*327G>C) c.*254G>C (n.*254G>C) c.187G>C (p.Gly63Arg) c.520G>C (p.Gly174Arg) | |
| 7 | g.117531055G>T | CA368974797 | CFTR | c.430G>T (p.Gly144Cys) c.*327G>T (n.*327G>T) c.*254G>T (n.*254G>T) c.187G>T (p.Gly63Cys) c.520G>T (p.Gly174Cys) | |
| 7 | g.117531056G>A | CA368974802 | CFTR | c.431G>A (p.Gly144Asp) c.*328G>A (n.*328G>A) c.*255G>A (n.*255G>A) c.188G>A (p.Gly63Asp) c.521G>A (p.Gly174Asp) | |
| 7 | g.117531056G>C | CA368974805 | CFTR | c.431G>C (p.Gly144Ala) c.*328G>C (n.*328G>C) c.*255G>C (n.*255G>C) c.188G>C (p.Gly63Ala) c.521G>C (p.Gly174Ala) | |
| 7 | g.117531056G>T | CA368974804 | CFTR | c.431G>T (p.Gly144Val) c.*328G>T (n.*328G>T) c.*255G>T (n.*255G>T) c.188G>T (p.Gly63Val) c.521G>T (p.Gly174Val) | |
| 7 | g.117531056_117531057delinsGC | CA1737359606 | CFTR | c.431_432delinsGC (p.Gly144=) c.*328_*329delinsGC (n.*328_*329delinsGC) c.*255_*256delinsGC (n.*255_*256delinsGC) c.188_189delinsGC (p.Gly63=) c.521_522delinsGC (p.Gly174=) | |
| 7 | g.117531057C>A | CA457448703 | CFTR | c.432C>A (p.Gly144=) c.*329C>A (n.*329C>A) c.*256C>A (n.*256C>A) c.189C>A (p.Gly63=) c.522C>A (p.Gly174=) | |
| 7 | g.117531057C= | CA1737359612 | CFTR | c.432C= (p.Gly144=) c.*329C= (n.*329C=) c.*256C= (n.*256C=) c.189C= (p.Gly63=) c.522C= (p.Gly174=) | |
| 7 | g.117531057C>G | CA457448704 | CFTR | c.432C>G (p.Gly144=) c.*329C>G (n.*329C>G) c.*256C>G (n.*256C>G) c.189C>G (p.Gly63=) c.522C>G (p.Gly174=) | dbSNP |
| 7 | g.117531057C>T | CA457448705 | CFTR | c.432C>T (p.Gly144=) c.*329C>T (n.*329C>T) c.*256C>T (n.*256C>T) c.189C>T (p.Gly63=) c.522C>T (p.Gly174=) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117531058del | CA913189988 | CFTR | c.433del (p.Leu145PhefsTer8) c.*330del (n.*330del) c.*257del (n.*257del) c.190del (p.Leu64PhefsTer8) c.523del (p.Leu175PhefsTer8) | ClinVar dbSNP |
| 7 | g.117531058C>A | CA368974807 | CFTR | c.433C>A (p.Leu145Ile) c.*330C>A (n.*330C>A) c.*257C>A (n.*257C>A) c.190C>A (p.Leu64Ile) c.523C>A (p.Leu175Ile) | |
| 7 | g.117531058C= | CA1737359616 | CFTR | c.433C= (p.Leu145=) c.*330C= (n.*330C=) c.*257C= (n.*257C=) c.190C= (p.Leu64=) c.523C= (p.Leu175=) | |
| 7 | g.117531058C>G | CA368974810 | CFTR | c.433C>G (p.Leu145Val) c.*330C>G (n.*330C>G) c.*257C>G (n.*257C>G) c.190C>G (p.Leu64Val) c.523C>G (p.Leu175Val) | ClinVar |
| 7 | g.117531058C>T | CA164943801 | CFTR | c.433C>T (p.Leu145Phe) c.*330C>T (n.*330C>T) c.*257C>T (n.*257C>T) c.190C>T (p.Leu64Phe) c.523C>T (p.Leu175Phe) | dbSNP |
| 7 | g.117531059T>A | CA327481 | CFTR | c.434T>A (p.Leu145His) c.*331T>A (n.*331T>A) c.*258T>A (n.*258T>A) c.191T>A (p.Leu64His) c.524T>A (p.Leu175His) | ClinVar dbSNP |
| 7 | g.117531059T>C | CA368974817 | CFTR | c.434T>C (p.Leu145Pro) c.*331T>C (n.*331T>C) c.*258T>C (n.*258T>C) c.191T>C (p.Leu64Pro) c.524T>C (p.Leu175Pro) | |
| 7 | g.117531059T>G | CA368974820 | CFTR | c.434T>G (p.Leu145Arg) c.*331T>G (n.*331T>G) c.*258T>G (n.*258T>G) c.191T>G (p.Leu64Arg) c.524T>G (p.Leu175Arg) | |
| 7 | g.117531059T= | CA1737359621 | CFTR | c.434T= (p.Leu145=) c.*331T= (n.*331T=) c.*258T= (n.*258T=) c.191T= (p.Leu64=) c.524T= (p.Leu175=) | |
| 7 | g.117531060T>A | CA457448706 | CFTR | c.435T>A (p.Leu145=) c.*332T>A (n.*332T>A) c.*259T>A (n.*259T>A) c.192T>A (p.Leu64=) c.525T>A (p.Leu175=) | |
| 7 | g.117531060T>C | CA457448708 | CFTR | c.435T>C (p.Leu145=) c.*332T>C (n.*332T>C) c.*259T>C (n.*259T>C) c.192T>C (p.Leu64=) c.525T>C (p.Leu175=) | |
| 7 | g.117531060T>G | CA457448707 | CFTR | c.435T>G (p.Leu145=) c.*332T>G (n.*332T>G) c.*259T>G (n.*259T>G) c.192T>G (p.Leu64=) c.525T>G (p.Leu175=) | |
| 7 | g.117531063_117531065del | CA2580617093 | CFTR | c.438_440del (p.His147del) c.*335_*337del (n.*335_*337del) c.*262_*264del (n.*262_*264del) c.195_197del (p.His66del) c.528_530del (p.His177del) | ClinVar |
| 7 | g.117531061C>A | CA368974823 | CFTR | c.436C>A (p.His146Asn) c.*333C>A (n.*333C>A) c.*260C>A (n.*260C>A) c.193C>A (p.His65Asn) c.526C>A (p.His176Asn) | |
| 7 | g.117531061C= | CA1737359624 | CFTR | c.436C= (p.His146=) c.*333C= (n.*333C=) c.*260C= (n.*260C=) c.193C= (p.His65=) c.526C= (p.His176=) | |
| 7 | g.117531061C>G | CA368974827 | CFTR | c.436C>G (p.His146Asp) c.*333C>G (n.*333C>G) c.*260C>G (n.*260C>G) c.193C>G (p.His65Asp) c.526C>G (p.His176Asp) | |
| 7 | g.117531061C>T | CA368974829 | CFTR | c.436C>T (p.His146Tyr) c.*333C>T (n.*333C>T) c.*260C>T (n.*260C>T) c.193C>T (p.His65Tyr) c.526C>T (p.His176Tyr) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 7 | g.117531062A= | CA1737359627 | CFTR | c.437A= (p.His146=) c.*334A= (n.*334A=) c.*261A= (n.*261A=) c.194A= (p.His65=) c.527A= (p.His176=) | |
| 7 | g.117531062A>C | CA368974832 | CFTR | c.437A>C (p.His146Pro) c.*334A>C (n.*334A>C) c.*261A>C (n.*261A>C) c.194A>C (p.His65Pro) c.527A>C (p.His176Pro) | |
| 7 | g.117531062A>G | CA327483 | CFTR | c.437A>G (p.His146Arg) c.*334A>G (n.*334A>G) c.*261A>G (n.*261A>G) c.194A>G (p.His65Arg) c.527A>G (p.His176Arg) | dbSNP |
| 7 | g.117531062A>T | CA368974835 | CFTR | c.437A>T (p.His146Leu) c.*334A>T (n.*334A>T) c.*261A>T (n.*261A>T) c.194A>T (p.His65Leu) c.527A>T (p.His176Leu) | |
| 7 | g.117531063T>A | CA368974838 | CFTR | c.438T>A (p.His146Gln) c.*335T>A (n.*335T>A) c.*262T>A (n.*262T>A) c.195T>A (p.His65Gln) c.528T>A (p.His176Gln) | |
| 7 | g.117531063T>C | CA457448709 | CFTR | c.438T>C (p.His146=) c.*335T>C (n.*335T>C) c.*262T>C (n.*262T>C) c.195T>C (p.His65=) c.528T>C (p.His176=) | |
| 7 | g.117531063T>G | CA368974841 | CFTR | c.438T>G (p.His146Gln) c.*335T>G (n.*335T>G) c.*262T>G (n.*262T>G) c.195T>G (p.His65Gln) c.528T>G (p.His176Gln) | |
| 7 | g.117531064C>A | CA368974866 | CFTR | c.439C>A (p.His147Asn) c.*336C>A (n.*336C>A) c.*263C>A (n.*263C>A) c.196C>A (p.His66Asn) c.529C>A (p.His177Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117531064C= | CA1737359631 | CFTR | c.439C= (p.His147=) c.*336C= (n.*336C=) c.*263C= (n.*263C=) c.196C= (p.His66=) c.529C= (p.His177=) | |
| 7 | g.117531064C>G | CA368974856 | CFTR | c.439C>G (p.His147Asp) c.*336C>G (n.*336C>G) c.*263C>G (n.*263C>G) c.196C>G (p.His66Asp) c.529C>G (p.His177Asp) | |
| 7 | g.117531064C>T | CA368974844 | CFTR | c.439C>T (p.His147Tyr) c.*336C>T (n.*336C>T) c.*263C>T (n.*263C>T) c.196C>T (p.His66Tyr) c.529C>T (p.His177Tyr) | |
| 7 | g.117531066_117531067del | CA2580617094 | CFTR | c.441_442del (p.Ile148TrpfsTer10) c.*338_*339del (n.*338_*339del) c.*265_*266del (n.*265_*266del) c.198_199del (p.Ile67TrpfsTer10) c.531_532del (p.Ile178TrpfsTer10) | ClinVar |
| 7 | g.117531065A>C | CA368974870 | CFTR | c.440A>C (p.His147Pro) c.*337A>C (n.*337A>C) c.*264A>C (n.*264A>C) c.197A>C (p.His66Pro) c.530A>C (p.His177Pro) | ClinVar gnomAD v4 |
| 7 | g.117531065A>G | CA368974887 | CFTR | c.440A>G (p.His147Arg) c.*337A>G (n.*337A>G) c.*264A>G (n.*264A>G) c.197A>G (p.His66Arg) c.530A>G (p.His177Arg) | |
| 7 | g.117531065A>T | CA368974893 | CFTR | c.440A>T (p.His147Leu) c.*337A>T (n.*337A>T) c.*264A>T (n.*264A>T) c.197A>T (p.His66Leu) c.530A>T (p.His177Leu) | |
| 7 | g.117531066C>A | CA368974895 | CFTR | c.441C>A (p.His147Gln) c.*338C>A (n.*338C>A) c.*265C>A (n.*265C>A) c.198C>A (p.His66Gln) c.531C>A (p.His177Gln) | |
| 7 | g.117531066C= | CA1737359638 | CFTR | c.441C= (p.His147=) c.*338C= (n.*338C=) c.*265C= (n.*265C=) c.198C= (p.His66=) c.531C= (p.His177=) | |
| 7 | g.117531066C>G | CA4450721 | CFTR | c.441C>G (p.His147Gln) c.*338C>G (n.*338C>G) c.*265C>G (n.*265C>G) c.198C>G (p.His66Gln) c.531C>G (p.His177Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117531066C>T | CA457448710 | CFTR | c.441C>T (p.His147=) c.*338C>T (n.*338C>T) c.*265C>T (n.*265C>T) c.198C>T (p.His66=) c.531C>T (p.His177=) | ClinVar |
| 7 | g.117531066_117531067delinsCA | CA1737359636 | CFTR | c.441_442delinsCA (p.His147=) c.*338_*339delinsCA (n.*338_*339delinsCA) c.*265_*266delinsCA (n.*265_*266delinsCA) c.198_199delinsCA (p.His66=) c.531_532delinsCA (p.His177=) | |
| 7 | g.117531067del | CA328123 | CFTR | c.442del (p.Ile148LeufsTer5) c.*339del (n.*339del) c.*266del (n.*266del) c.199del (p.Ile67LeufsTer5) c.532del (p.Ile178LeufsTer5) | ClinVar dbSNP |
| 7 | g.117531067A= | CA1737359642 | CFTR | c.442A= (p.Ile148=) c.*339A= (n.*339A=) c.*266A= (n.*266A=) c.199A= (p.Ile67=) c.532A= (p.Ile178=) | |
| 7 | g.117531067A>C | CA368974896 | CFTR | c.442A>C (p.Ile148Leu) c.*339A>C (n.*339A>C) c.*266A>C (n.*266A>C) c.199A>C (p.Ile67Leu) c.532A>C (p.Ile178Leu) | gnomAD v4 |
| 7 | g.117531067A>G | CA164943813 | CFTR | c.442A>G (p.Ile148Val) c.*339A>G (n.*339A>G) c.*266A>G (n.*266A>G) c.199A>G (p.Ile67Val) c.532A>G (p.Ile178Val) | dbSNP |
| 7 | g.117531067A>T | CA368974898 | CFTR | c.442A>T (p.Ile148Phe) c.*339A>T (n.*339A>T) c.*266A>T (n.*266A>T) c.199A>T (p.Ile67Phe) c.532A>T (p.Ile178Phe) | |
| 7 | g.117531068T>A | CA327489 | CFTR | c.443T>A (p.Ile148Asn) c.*340T>A (n.*340T>A) c.*267T>A (n.*267T>A) c.200T>A (p.Ile67Asn) c.533T>A (p.Ile178Asn) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117531068T>C | CA146708 | CFTR | c.443T>C (p.Ile148Thr) c.*340T>C (n.*340T>C) c.*267T>C (n.*267T>C) c.200T>C (p.Ile67Thr) c.533T>C (p.Ile178Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117531068T>G | CA368974902 | CFTR | c.443T>G (p.Ile148Ser) c.*340T>G (n.*340T>G) c.*267T>G (n.*267T>G) c.200T>G (p.Ile67Ser) c.533T>G (p.Ile178Ser) | ClinVar gnomAD v4 |
| 7 | g.117531068T= | CA1737359649 | CFTR | c.443T= (p.Ile148=) c.*340T= (n.*340T=) c.*267T= (n.*267T=) c.200T= (p.Ile67=) c.533T= (p.Ile178=) | |
| 7 | g.117531069T>A | CA457448711 | CFTR | c.444T>A (p.Ile148=) c.*341T>A (n.*341T>A) c.*268T>A (n.*268T>A) c.201T>A (p.Ile67=) c.534T>A (p.Ile178=) | |
| 7 | g.117531069T>C | CA457448712 | CFTR | c.444T>C (p.Ile148=) c.*341T>C (n.*341T>C) c.*268T>C (n.*268T>C) c.201T>C (p.Ile67=) c.534T>C (p.Ile178=) | |
| 7 | g.117531069T>G | CA368974908 | CFTR | c.444T>G (p.Ile148Met) c.*341T>G (n.*341T>G) c.*268T>G (n.*268T>G) c.201T>G (p.Ile67Met) c.534T>G (p.Ile178Met) | |
| 7 | g.117531069T= | CA1737359654 | CFTR | c.444T= (p.Ile148=) c.*341T= (n.*341T=) c.*268T= (n.*268T=) c.201T= (p.Ile67=) c.534T= (p.Ile178=) | |
| 7 | g.117531069_117531070insCTA | CA327491 | CFTR | c.444_445insCTA (p.Ile148_Gly149insLeu) c.*341_*342insCTA (n.*341_*342insCTA) c.*268_*269insCTA (n.*268_*269insCTA) c.201_202insCTA (p.Ile67_Gly68insLeu) c.534_535insCTA (p.Ile178_Gly179insLeu) | dbSNP |
| 7 | g.117531070G>A | CA327493 | CFTR | c.445G>A (p.Gly149Arg) c.*342G>A (n.*342G>A) c.*269G>A (n.*269G>A) c.202G>A (p.Gly68Arg) c.535G>A (p.Gly179Arg) | ClinVar dbSNP gnomAD v4 COSMIC |
| 7 | g.117531070G>C | CA368974913 | CFTR | c.445G>C (p.Gly149Arg) c.*342G>C (n.*342G>C) c.*269G>C (n.*269G>C) c.202G>C (p.Gly68Arg) c.535G>C (p.Gly179Arg) | |
| 7 | g.117531070G= | CA1737359655 | CFTR | c.445G= (p.Gly149=) c.*342G= (n.*342G=) c.*269G= (n.*269G=) c.202G= (p.Gly68=) c.535G= (p.Gly179=) | |
| 7 | g.117531070G>T | CA368974916 | CFTR | c.445G>T (p.Gly149Ter) c.*342G>T (n.*342G>T) c.*269G>T (n.*269G>T) c.202G>T (p.Gly68Ter) c.535G>T (p.Gly179Ter) | ClinVar dbSNP |
| 7 | g.117531071G>A | CA368974924 | CFTR | c.446G>A (p.Gly149Glu) c.*343G>A (n.*343G>A) c.*270G>A (n.*270G>A) c.203G>A (p.Gly68Glu) c.536G>A (p.Gly179Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 7 | g.117531071G>C | CA368974927 | CFTR | c.446G>C (p.Gly149Ala) c.*343G>C (n.*343G>C) c.*270G>C (n.*270G>C) c.203G>C (p.Gly68Ala) c.536G>C (p.Gly179Ala) | gnomAD v4 |
| 7 | g.117531071G= | CA1737359660 | CFTR | c.446G= (p.Gly149=) c.*343G= (n.*343G=) c.*270G= (n.*270G=) c.203G= (p.Gly68=) c.536G= (p.Gly179=) | |
| 7 | g.117531071G>T | CA327494 | CFTR | c.446G>T (p.Gly149Val) c.*343G>T (n.*343G>T) c.*270G>T (n.*270G>T) c.203G>T (p.Gly68Val) c.536G>T (p.Gly179Val) | dbSNP |
| 7 | g.117531072A>C | CA457448713 | CFTR | c.447A>C (p.Gly149=) c.*344A>C (n.*344A>C) c.*271A>C (n.*271A>C) c.204A>C (p.Gly68=) c.537A>C (p.Gly179=) | |
| 7 | g.117531072A>G | CA457448715 | CFTR | c.447A>G (p.Gly149=) c.*344A>G (n.*344A>G) c.*271A>G (n.*271A>G) c.204A>G (p.Gly68=) c.537A>G (p.Gly179=) | |
| 7 | g.117531072A>T | CA457448714 | CFTR | c.447A>T (p.Gly149=) c.*344A>T (n.*344A>T) c.*271A>T (n.*271A>T) c.204A>T (p.Gly68=) c.537A>T (p.Gly179=) | |
| 7 | g.117531073A>C | CA368974928 | CFTR | c.448A>C (p.Met150Leu) c.*345A>C (n.*345A>C) c.*272A>C (n.*272A>C) c.205A>C (p.Met69Leu) c.538A>C (p.Met180Leu) | |
| 7 | g.117531073A>G | CA368974930 | CFTR | c.448A>G (p.Met150Val) c.*345A>G (n.*345A>G) c.*272A>G (n.*272A>G) c.205A>G (p.Met69Val) c.538A>G (p.Met180Val) | gnomAD v4 |
| 7 | g.117531073A>T | CA368974940 | CFTR | c.448A>T (p.Met150Leu) c.*345A>T (n.*345A>T) c.*272A>T (n.*272A>T) c.205A>T (p.Met69Leu) c.538A>T (p.Met180Leu) | |
| 7 | g.117531074T>A | CA368974943 | CFTR | c.449T>A (p.Met150Lys) c.*346T>A (n.*346T>A) c.*273T>A (n.*273T>A) c.206T>A (p.Met69Lys) c.539T>A (p.Met180Lys) | ClinVar dbSNP |
| 7 | g.117531074T>C | CA368974945 | CFTR | c.449T>C (p.Met150Thr) c.*346T>C (n.*346T>C) c.*273T>C (n.*273T>C) c.206T>C (p.Met69Thr) c.539T>C (p.Met180Thr) | |
| 7 | g.117531074T>G | CA368974947 | CFTR | c.449T>G (p.Met150Arg) c.*346T>G (n.*346T>G) c.*273T>G (n.*273T>G) c.206T>G (p.Met69Arg) c.539T>G (p.Met180Arg) | ClinVar dbSNP |
| 7 | g.117531074T= | CA1737359664 | CFTR | c.449T= (p.Met150=) c.*346T= (n.*346T=) c.*273T= (n.*273T=) c.206T= (p.Met69=) c.539T= (p.Met180=) | |
| 7 | g.117531075del | CA2695208296 | CFTR | c.450del (p.Met150IlefsTer3) c.*347del (n.*347del) c.*274del (n.*274del) c.207del (p.Met69IlefsTer3) c.540del (p.Met180IlefsTer3) | |
| 7 | g.117531075G>A | CA4450722 | CFTR | c.450G>A (p.Met150Ile) c.*347G>A (n.*347G>A) c.*274G>A (n.*274G>A) c.207G>A (p.Met69Ile) c.540G>A (p.Met180Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117531075G>C | CA368974949 | CFTR | c.450G>C (p.Met150Ile) c.*347G>C (n.*347G>C) c.*274G>C (n.*274G>C) c.207G>C (p.Met69Ile) c.540G>C (p.Met180Ile) | |
| 7 | g.117531075G= | CA1737359666 | CFTR | c.450G= (p.Met150=) c.*347G= (n.*347G=) c.*274G= (n.*274G=) c.207G= (p.Met69=) c.540G= (p.Met180=) | |
| 7 | g.117531075G>T | CA368974951 | CFTR | c.450G>T (p.Met150Ile) c.*347G>T (n.*347G>T) c.*274G>T (n.*274G>T) c.207G>T (p.Met69Ile) c.540G>T (p.Met180Ile) | |
| 7 | g.117531076C>A | CA327496 | CFTR | c.451C>A (p.Gln151Lys) c.*348C>A (n.*348C>A) c.*275C>A (n.*275C>A) c.208C>A (p.Gln70Lys) c.541C>A (p.Gln181Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117531076C= | CA1737359670 | CFTR | c.451C= (p.Gln151=) c.*348C= (n.*348C=) c.*275C= (n.*275C=) c.208C= (p.Gln70=) c.541C= (p.Gln181=) | |
| 7 | g.117531076C>G | CA368974955 | CFTR | c.451C>G (p.Gln151Glu) c.*348C>G (n.*348C>G) c.*275C>G (n.*275C>G) c.208C>G (p.Gln70Glu) c.541C>G (p.Gln181Glu) | |
| 7 | g.117531076C>T | CA327498 | CFTR | c.451C>T (p.Gln151Ter) c.*348C>T (n.*348C>T) c.*275C>T (n.*275C>T) c.208C>T (p.Gln70Ter) c.541C>T (p.Gln181Ter) | ClinVar dbSNP |
| 7 | g.117531077A= | CA1737359674 | CFTR | c.452A= (p.Gln151=) c.*349A= (n.*349A=) c.*276A= (n.*276A=) c.209A= (p.Gln70=) c.542A= (p.Gln181=) | |
| 7 | g.117531077A>C | CA4450723 | CFTR | c.452A>C (p.Gln151Pro) c.*349A>C (n.*349A>C) c.*276A>C (n.*276A>C) c.209A>C (p.Gln70Pro) c.542A>C (p.Gln181Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117531077A>G | CA368974963 | CFTR | c.452A>G (p.Gln151Arg) c.*349A>G (n.*349A>G) c.*276A>G (n.*276A>G) c.209A>G (p.Gln70Arg) c.542A>G (p.Gln181Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117531077A>T | CA368974970 | CFTR | c.452A>T (p.Gln151Leu) c.*349A>T (n.*349A>T) c.*276A>T (n.*276A>T) c.209A>T (p.Gln70Leu) c.542A>T (p.Gln181Leu) | |
| 7 | g.117531078G>A | CA457448716 | CFTR | c.453G>A (p.Gln151=) c.*350G>A (n.*350G>A) c.*277G>A (n.*277G>A) c.210G>A (p.Gln70=) c.543G>A (p.Gln181=) | ClinVar gnomAD v4 |
| 7 | g.117531078G>C | CA368974972 | CFTR | c.453G>C (p.Gln151His) c.*350G>C (n.*350G>C) c.*277G>C (n.*277G>C) c.210G>C (p.Gln70His) c.543G>C (p.Gln181His) | COSMIC |
| 7 | g.117531078G>T | CA368974975 | CFTR | c.453G>T (p.Gln151His) c.*350G>T (n.*350G>T) c.*277G>T (n.*277G>T) c.210G>T (p.Gln70His) c.543G>T (p.Gln181His) | |
| 7 | g.117531079A= | CA1737359677 | CFTR | c.454A= (p.Met152=) c.*351A= (n.*351A=) c.*278A= (n.*278A=) c.211A= (p.Met71=) c.544A= (p.Met182=) | |
| 7 | g.117531079A>C | CA368974976 | CFTR | c.454A>C (p.Met152Leu) c.*351A>C (n.*351A>C) c.*278A>C (n.*278A>C) c.211A>C (p.Met71Leu) c.544A>C (p.Met182Leu) | |
| 7 | g.117531079A>G | CA327500 | CFTR | c.454A>G (p.Met152Val) c.*351A>G (n.*351A>G) c.*278A>G (n.*278A>G) c.211A>G (p.Met71Val) c.544A>G (p.Met182Val) | ClinVar dbSNP |
| 7 | g.117531079A>T | CA4450724 | CFTR | c.454A>T (p.Met152Leu) c.*351A>T (n.*351A>T) c.*278A>T (n.*278A>T) c.211A>T (p.Met71Leu) c.544A>T (p.Met182Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117531080T>A | CA368974980 | CFTR | c.455T>A (p.Met152Lys) c.*352T>A (n.*352T>A) c.*279T>A (n.*279T>A) c.212T>A (p.Met71Lys) c.545T>A (p.Met182Lys) | |
| 7 | g.117531080T>C | CA368974978 | CFTR | c.455T>C (p.Met152Thr) c.*352T>C (n.*352T>C) c.*279T>C (n.*279T>C) c.212T>C (p.Met71Thr) c.545T>C (p.Met182Thr) | dbSNP gnomAD v4 |
| 7 | g.117531080T>G | CA327502 | CFTR | c.455T>G (p.Met152Arg) c.*352T>G (n.*352T>G) c.*279T>G (n.*279T>G) c.212T>G (p.Met71Arg) c.545T>G (p.Met182Arg) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117531080T= | CA1737359680 | CFTR | c.455T= (p.Met152=) c.*352T= (n.*352T=) c.*279T= (n.*279T=) c.212T= (p.Met71=) c.545T= (p.Met182=) | |
| 7 | g.117531081G>A | CA368974982 | CFTR | c.456G>A (p.Met152Ile) c.*353G>A (n.*353G>A) c.*280G>A (n.*280G>A) c.213G>A (p.Met71Ile) c.546G>A (p.Met182Ile) | ClinVar dbSNP gnomAD v4 COSMIC |
| 7 | g.117531081G>C | CA368974984 | CFTR | c.456G>C (p.Met152Ile) c.*353G>C (n.*353G>C) c.*280G>C (n.*280G>C) c.213G>C (p.Met71Ile) c.546G>C (p.Met182Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117531081G= | CA1737359686 | CFTR | c.456G= (p.Met152=) c.*353G= (n.*353G=) c.*280G= (n.*280G=) c.213G= (p.Met71=) c.546G= (p.Met182=) | |
| 7 | g.117531081G>T | CA368974986 | CFTR | c.456G>T (p.Met152Ile) c.*353G>T (n.*353G>T) c.*280G>T (n.*280G>T) c.213G>T (p.Met71Ile) c.546G>T (p.Met182Ile) | |
| 7 | g.117531082A>C | CA457448717 | CFTR | c.457A>C (p.Arg153=) c.*354A>C (n.*354A>C) c.*281A>C (n.*281A>C) c.214A>C (p.Arg72=) c.547A>C (p.Arg183=) | |
| 7 | g.117531082A>G | CA368974989 | CFTR | c.457A>G (p.Arg153Gly) c.*354A>G (n.*354A>G) c.*281A>G (n.*281A>G) c.214A>G (p.Arg72Gly) c.547A>G (p.Arg183Gly) | |
| 7 | g.117531082A>T | CA368974991 | CFTR | c.457A>T (p.Arg153Ter) c.*354A>T (n.*354A>T) c.*281A>T (n.*281A>T) c.214A>T (p.Arg72Ter) c.547A>T (p.Arg183Ter) | |
| 7 | g.117531083G>A | CA4450725 | CFTR | c.458G>A (p.Arg153Lys) c.*355G>A (n.*355G>A) c.*282G>A (n.*282G>A) c.215G>A (p.Arg72Lys) c.548G>A (p.Arg183Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117531083G>C | CA368974995 | CFTR | c.458G>C (p.Arg153Thr) c.*355G>C (n.*355G>C) c.*282G>C (n.*282G>C) c.215G>C (p.Arg72Thr) c.548G>C (p.Arg183Thr) | |
| 7 | g.117531083G= | CA1737359689 | CFTR | c.458G= (p.Arg153=) c.*355G= (n.*355G=) c.*282G= (n.*282G=) c.215G= (p.Arg72=) c.548G= (p.Arg183=) | |
| 7 | g.117531083G>T | CA368974994 | CFTR | c.458G>T (p.Arg153Ile) c.*355G>T (n.*355G>T) c.*282G>T (n.*282G>T) c.215G>T (p.Arg72Ile) c.548G>T (p.Arg183Ile) | |
| 7 | g.117531083_117531101delinsGAATAGCTATGTTTAGTTT | CA1737359691 | CFTR | c.458_476delinsGAATAGCTATGTTTAGTTT (p.Arg153=) c.*355_*373delinsGAATAGCTATGTTTAGTTT (n.*355_*373delinsGAATAGCTATGTTTAGTTT) c.*282_*300delinsGAATAGCTATGTTTAGTTT (n.*282_*300delinsGAATAGCTATGTTTAGTTT) c.215_233delinsGAATAGCTATGTTTAGTTT (p.Arg72=) c.548_566delinsGAATAGCTATGTTTAGTTT (p.Arg183=) | |
| 7 | g.117531084A>C | CA368975000 | CFTR | c.459A>C (p.Arg153Ser) c.*356A>C (n.*356A>C) c.*283A>C (n.*283A>C) c.216A>C (p.Arg72Ser) c.549A>C (p.Arg183Ser) | |
| 7 | g.117531084A>G | CA457448718 | CFTR | c.459A>G (p.Arg153=) c.*356A>G (n.*356A>G) c.*283A>G (n.*283A>G) c.216A>G (p.Arg72=) c.549A>G (p.Arg183=) | |
| 7 | g.117531084A>T | CA368975002 | CFTR | c.459A>T (p.Arg153Ser) c.*356A>T (n.*356A>T) c.*283A>T (n.*283A>T) c.216A>T (p.Arg72Ser) c.549A>T (p.Arg183Ser) | |
| 7 | g.117531084_117531101del | CA325578 | CFTR | c.459_476del (p.Ile154_Leu159del) c.*356_*373del (n.*356_*373del) c.*283_*300del (n.*283_*300del) c.216_233del (p.Ile73_Leu78del) c.549_566del (p.Ile184_Leu189del) | ClinVar dbSNP |
| 7 | g.117531085A>C | CA368975008 | CFTR | c.460A>C (p.Ile154Leu) c.*357A>C (n.*357A>C) c.*284A>C (n.*284A>C) c.217A>C (p.Ile73Leu) c.550A>C (p.Ile184Leu) | |
| 7 | g.117531085A>G | CA368975010 | CFTR | c.460A>G (p.Ile154Val) c.*357A>G (n.*357A>G) c.*284A>G (n.*284A>G) c.217A>G (p.Ile73Val) c.550A>G (p.Ile184Val) | |
| 7 | g.117531085A>T | CA368975012 | CFTR | c.460A>T (p.Ile154Leu) c.*357A>T (n.*357A>T) c.*284A>T (n.*284A>T) c.217A>T (p.Ile73Leu) c.550A>T (p.Ile184Leu) | |
| 7 | g.117531086T>A | CA368975022 | CFTR | c.461T>A (p.Ile154Lys) c.*358T>A (n.*358T>A) c.*285T>A (n.*285T>A) c.218T>A (p.Ile73Lys) c.551T>A (p.Ile184Lys) | |
| 7 | g.117531086T>C | CA4450726 | CFTR | c.461T>C (p.Ile154Thr) c.*358T>C (n.*358T>C) c.*285T>C (n.*285T>C) c.218T>C (p.Ile73Thr) c.551T>C (p.Ile184Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117531086T>G | CA368975018 | CFTR | c.461T>G (p.Ile154Arg) c.*358T>G (n.*358T>G) c.*285T>G (n.*285T>G) c.218T>G (p.Ile73Arg) c.551T>G (p.Ile184Arg) | |
| 7 | g.117531086T= | CA1737359695 | CFTR | c.461T= (p.Ile154=) c.*358T= (n.*358T=) c.*285T= (n.*285T=) c.218T= (p.Ile73=) c.551T= (p.Ile184=) | |
| 7 | g.117531087A>C | CA457448719 | CFTR | c.462A>C (p.Ile154=) c.*359A>C (n.*359A>C) c.*286A>C (n.*286A>C) c.219A>C (p.Ile73=) c.552A>C (p.Ile184=) | |
| 7 | g.117531087A>G | CA368975025 | CFTR | c.462A>G (p.Ile154Met) c.*359A>G (n.*359A>G) c.*286A>G (n.*286A>G) c.219A>G (p.Ile73Met) c.552A>G (p.Ile184Met) | |
| 7 | g.117531087A>T | CA457448720 | CFTR | c.462A>T (p.Ile154=) c.*359A>T (n.*359A>T) c.*286A>T (n.*286A>T) c.219A>T (p.Ile73=) c.552A>T (p.Ile184=) | |
| 7 | g.117531088G>A | CA368975027 | CFTR | c.463G>A (p.Ala155Thr) c.*360G>A (n.*360G>A) c.*287G>A (n.*287G>A) c.220G>A (p.Ala74Thr) c.553G>A (p.Ala185Thr) | gnomAD v4 |
| 7 | g.117531088G>C | CA327504 | CFTR | c.463G>C (p.Ala155Pro) c.*360G>C (n.*360G>C) c.*287G>C (n.*287G>C) c.220G>C (p.Ala74Pro) c.553G>C (p.Ala185Pro) | ClinVar dbSNP |
| 7 | g.117531088G= | CA1737359699 | CFTR | c.463G= (p.Ala155=) c.*360G= (n.*360G=) c.*287G= (n.*287G=) c.220G= (p.Ala74=) c.553G= (p.Ala185=) | |
| 7 | g.117531088G>T | CA368975031 | CFTR | c.463G>T (p.Ala155Ser) c.*360G>T (n.*360G>T) c.*287G>T (n.*287G>T) c.220G>T (p.Ala74Ser) c.553G>T (p.Ala185Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117531089C>A | CA368975034 | CFTR | c.464C>A (p.Ala155Asp) c.*361C>A (n.*361C>A) c.*288C>A (n.*288C>A) c.221C>A (p.Ala74Asp) c.554C>A (p.Ala185Asp) | |
| 7 | g.117531089C= | CA1737359704 | CFTR | c.464C= (p.Ala155=) c.*361C= (n.*361C=) c.*288C= (n.*288C=) c.221C= (p.Ala74=) c.554C= (p.Ala185=) | |
| 7 | g.117531089C>G | CA368975035 | CFTR | c.464C>G (p.Ala155Gly) c.*361C>G (n.*361C>G) c.*288C>G (n.*288C>G) c.221C>G (p.Ala74Gly) c.554C>G (p.Ala185Gly) | ClinVar dbSNP |
| 7 | g.117531089C>T | CA368975036 | CFTR | c.464C>T (p.Ala155Val) c.*361C>T (n.*361C>T) c.*288C>T (n.*288C>T) c.221C>T (p.Ala74Val) c.554C>T (p.Ala185Val) | |
| 7 | g.117531090T>A | CA457448721 | CFTR | c.465T>A (p.Ala155=) c.*362T>A (n.*362T>A) c.*289T>A (n.*289T>A) c.222T>A (p.Ala74=) c.555T>A (p.Ala185=) | gnomAD v4 COSMIC |
| 7 | g.117531090T>C | CA457448722 | CFTR | c.465T>C (p.Ala155=) c.*362T>C (n.*362T>C) c.*289T>C (n.*289T>C) c.222T>C (p.Ala74=) c.555T>C (p.Ala185=) | |
| 7 | g.117531090T>G | CA457448723 | CFTR | c.465T>G (p.Ala155=) c.*362T>G (n.*362T>G) c.*289T>G (n.*289T>G) c.222T>G (p.Ala74=) c.555T>G (p.Ala185=) | gnomAD v4 |
| 7 | g.117531091A= | CA1737359706 | CFTR | c.466A= (p.Met156=) c.*363A= (n.*363A=) c.*290A= (n.*290A=) c.223A= (p.Met75=) c.556A= (p.Met186=) | |
| 7 | g.117531091A>C | CA368975037 | CFTR | c.466A>C (p.Met156Leu) c.*363A>C (n.*363A>C) c.*290A>C (n.*290A>C) c.223A>C (p.Met75Leu) c.556A>C (p.Met186Leu) | |
| 7 | g.117531091A>G | CA4450727 | CFTR | c.466A>G (p.Met156Val) c.*363A>G (n.*363A>G) c.*290A>G (n.*290A>G) c.223A>G (p.Met75Val) c.556A>G (p.Met186Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117531091A>T | CA368975039 | CFTR | c.466A>T (p.Met156Leu) c.*363A>T (n.*363A>T) c.*290A>T (n.*290A>T) c.223A>T (p.Met75Leu) c.556A>T (p.Met186Leu) | |
| 7 | g.117531092T>A | CA368975043 | CFTR | c.467T>A (p.Met156Lys) c.*364T>A (n.*364T>A) c.*291T>A (n.*291T>A) c.224T>A (p.Met75Lys) c.557T>A (p.Met186Lys) | |
| 7 | g.117531092T>C | CA368975044 | CFTR | c.467T>C (p.Met156Thr) c.*364T>C (n.*364T>C) c.*291T>C (n.*291T>C) c.224T>C (p.Met75Thr) c.557T>C (p.Met186Thr) | |
| 7 | g.117531092T>G | CA368975047 | CFTR | c.467T>G (p.Met156Arg) c.*364T>G (n.*364T>G) c.*291T>G (n.*291T>G) c.224T>G (p.Met75Arg) c.557T>G (p.Met186Arg) | |
| 7 | g.117531093G>A | CA368975050 | CFTR | c.468G>A (p.Met156Ile) c.*365G>A (n.*365G>A) c.*292G>A (n.*292G>A) c.225G>A (p.Met75Ile) c.558G>A (p.Met186Ile) | gnomAD v4 |
| 7 | g.117531093G>C | CA368975058 | CFTR | c.468G>C (p.Met156Ile) c.*365G>C (n.*365G>C) c.*292G>C (n.*292G>C) c.225G>C (p.Met75Ile) c.558G>C (p.Met186Ile) | |
| 7 | g.117531093G>T | CA368975055 | CFTR | c.468G>T (p.Met156Ile) c.*365G>T (n.*365G>T) c.*292G>T (n.*292G>T) c.225G>T (p.Met75Ile) c.558G>T (p.Met186Ile) | |
| 7 | g.117531093_117531094delinsGT | CA1737359710 | CFTR | c.468_469delinsGT (p.Met156=) c.*365_*366delinsGT (n.*365_*366delinsGT) c.*292_*293delinsGT (n.*292_*293delinsGT) c.225_226delinsGT (p.Met75=) c.558_559delinsGT (p.Met186=) | |
| 7 | g.117531093_117531107delinsGTTTAGTTTGATTTA | CA1737359711 | CFTR | c.468_482delinsGTTTAGTTTGATTTA (p.Met156=) c.*365_*379delinsGTTTAGTTTGATTTA (n.*365_*379delinsGTTTAGTTTGATTTA) c.*292_*306delinsGTTTAGTTTGATTTA (n.*292_*306delinsGTTTAGTTTGATTTA) c.225_239delinsGTTTAGTTTGATTTA (p.Met75=) c.558_572delinsGTTTAGTTTGATTTA (p.Met186=) | |
| 7 | g.117531094T>A | CA368975061 | CFTR | c.469T>A (p.Phe157Ile) c.*366T>A (n.*366T>A) c.*293T>A (n.*293T>A) c.226T>A (p.Phe76Ile) c.559T>A (p.Phe187Ile) | |
| 7 | g.117531094T>C | CA368975063 | CFTR | c.469T>C (p.Phe157Leu) c.*366T>C (n.*366T>C) c.*293T>C (n.*293T>C) c.226T>C (p.Phe76Leu) c.559T>C (p.Phe187Leu) | |
| 7 | g.117531094T>G | CA368975070 | CFTR | c.469T>G (p.Phe157Val) c.*366T>G (n.*366T>G) c.*293T>G (n.*293T>G) c.226T>G (p.Phe76Val) c.559T>G (p.Phe187Val) | |
| 7 | g.117531096del | CA4450728 | CFTR | c.471del (p.Phe157LeufsTer3) c.*368del (n.*368del) c.*295del (n.*295del) c.228del (p.Phe76LeufsTer3) c.561del (p.Phe187LeufsTer3) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117531095_117531108del | CA658656006 | CFTR | c.470_483del (p.Phe157Ter) c.*367_*380del (n.*367_*380del) c.*294_*307del (n.*294_*307del) c.227_240del (p.Phe76Ter) c.560_573del (p.Phe187Ter) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117531095T>A | CA368975071 | CFTR | c.470T>A (p.Phe157Tyr) c.*367T>A (n.*367T>A) c.*294T>A (n.*294T>A) c.227T>A (p.Phe76Tyr) c.560T>A (p.Phe187Tyr) | |
| 7 | g.117531095T>C | CA368975072 | CFTR | c.470T>C (p.Phe157Ser) c.*367T>C (n.*367T>C) c.*294T>C (n.*294T>C) c.227T>C (p.Phe76Ser) c.560T>C (p.Phe187Ser) | |
| 7 | g.117531095T>G | CA368975075 | CFTR | c.470T>G (p.Phe157Cys) c.*367T>G (n.*367T>G) c.*294T>G (n.*294T>G) c.227T>G (p.Phe76Cys) c.560T>G (p.Phe187Cys) | |
| 7 | g.117531096T>A | CA368975077 | CFTR | c.471T>A (p.Phe157Leu) c.*368T>A (n.*368T>A) c.*295T>A (n.*295T>A) c.228T>A (p.Phe76Leu) c.561T>A (p.Phe187Leu) | |
| 7 | g.117531096T>C | CA457448724 | CFTR | c.471T>C (p.Phe157=) c.*368T>C (n.*368T>C) c.*295T>C (n.*295T>C) c.228T>C (p.Phe76=) c.561T>C (p.Phe187=) | |
| 7 | g.117531096T>G | CA368975079 | CFTR | c.471T>G (p.Phe157Leu) c.*368T>G (n.*368T>G) c.*295T>G (n.*295T>G) c.228T>G (p.Phe76Leu) c.561T>G (p.Phe187Leu) | |
| 7 | g.117531096T= | CA1737359722 | CFTR | c.471T= (p.Phe157=) c.*368T= (n.*368T=) c.*295T= (n.*295T=) c.228T= (p.Phe76=) c.561T= (p.Phe187=) | |
| 7 | g.117531097A= | CA1737359726 | CFTR | c.472A= (p.Ser158=) c.*369A= (n.*369A=) c.*296A= (n.*296A=) c.229A= (p.Ser77=) c.562A= (p.Ser188=) | |
| 7 | g.117531097A>C | CA327506 | CFTR | c.472A>C (p.Ser158Arg) c.*369A>C (n.*369A>C) c.*296A>C (n.*296A>C) c.229A>C (p.Ser77Arg) c.562A>C (p.Ser188Arg) | dbSNP |
| 7 | g.117531097A>G | CA368975085 | CFTR | c.472A>G (p.Ser158Gly) c.*369A>G (n.*369A>G) c.*296A>G (n.*296A>G) c.229A>G (p.Ser77Gly) c.562A>G (p.Ser188Gly) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117531097A>T | CA4450729 | CFTR | c.472A>T (p.Ser158Cys) c.*369A>T (n.*369A>T) c.*296A>T (n.*296A>T) c.229A>T (p.Ser77Cys) c.562A>T (p.Ser188Cys) | ClinVar dbSNP ExAC gnomAD v4 |
| 7 | g.117531097dup | CA577671221 | CFTR | c.472dup (p.Ser158LysfsTer5) c.*369dup (n.*369dup) c.*296dup (n.*296dup) c.229dup (p.Ser77LysfsTer5) c.562dup (p.Ser188LysfsTer5) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117531098del | CA2684617328 | CFTR | c.473del (p.Ser158IlefsTer2) c.*370del (n.*370del) c.*297del (n.*297del) c.230del (p.Ser77IlefsTer2) c.563del (p.Ser188IlefsTer2) | gnomAD v4 |
| 7 | g.117531098G>A | CA4450730 | CFTR | c.473G>A (p.Ser158Asn) c.*370G>A (n.*370G>A) c.*297G>A (n.*297G>A) c.230G>A (p.Ser77Asn) c.563G>A (p.Ser188Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117531098G>C | CA327508 | CFTR | c.473G>C (p.Ser158Thr) c.*370G>C (n.*370G>C) c.*297G>C (n.*297G>C) c.230G>C (p.Ser77Thr) c.563G>C (p.Ser188Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117531098G= | CA1737359735 | CFTR | c.473G= (p.Ser158=) c.*370G= (n.*370G=) c.*297G= (n.*297G=) c.230G= (p.Ser77=) c.563G= (p.Ser188=) | |
| 7 | g.117531098G>T | CA368975090 | CFTR | c.473G>T (p.Ser158Ile) c.*370G>T (n.*370G>T) c.*297G>T (n.*297G>T) c.230G>T (p.Ser77Ile) c.563G>T (p.Ser188Ile) | |
| 7 | g.117531099T>A | CA368975097 | CFTR | c.474T>A (p.Ser158Arg) c.*371T>A (n.*371T>A) c.*298T>A (n.*298T>A) c.231T>A (p.Ser77Arg) c.564T>A (p.Ser188Arg) | |
| 7 | g.117531099T>C | CA457448725 | CFTR | c.474T>C (p.Ser158=) c.*371T>C (n.*371T>C) c.*298T>C (n.*298T>C) c.231T>C (p.Ser77=) c.564T>C (p.Ser188=) | |
| 7 | g.117531099T>G | CA368975098 | CFTR | c.474T>G (p.Ser158Arg) c.*371T>G (n.*371T>G) c.*298T>G (n.*298T>G) c.231T>G (p.Ser77Arg) c.564T>G (p.Ser188Arg) | |
| 7 | g.117531101dup | CA327510 | CFTR | c.476dup (p.Leu159PhefsTer4) c.*373dup (n.*373dup) c.*300dup (n.*300dup) c.233dup (p.Leu78PhefsTer4) c.566dup (p.Leu189PhefsTer4) | dbSNP |
| 7 | g.117531100T>A | CA368975103 | CFTR | c.475T>A (p.Leu159Met) c.*372T>A (n.*372T>A) c.*299T>A (n.*299T>A) c.232T>A (p.Leu78Met) c.565T>A (p.Leu189Met) | |
| 7 | g.117531100T>C | CA4450731 | CFTR | c.475T>C (p.Leu159=) c.*372T>C (n.*372T>C) c.*299T>C (n.*299T>C) c.232T>C (p.Leu78=) c.565T>C (p.Leu189=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117531100T>G | CA368975107 | CFTR | c.475T>G (p.Leu159Val) c.*372T>G (n.*372T>G) c.*299T>G (n.*299T>G) c.232T>G (p.Leu78Val) c.565T>G (p.Leu189Val) | gnomAD v4 |
| 7 | g.117531100T= | CA1737359741 | CFTR | c.475T= (p.Leu159=) c.*372T= (n.*372T=) c.*299T= (n.*299T=) c.232T= (p.Leu78=) c.565T= (p.Leu189=) | |
| 7 | g.117531101T>A | CA327511 | CFTR | c.476T>A (p.Leu159Ter) c.*373T>A (n.*373T>A) c.*300T>A (n.*300T>A) c.233T>A (p.Leu78Ter) c.566T>A (p.Leu189Ter) | dbSNP gnomAD v4 |
| 7 | g.117531101T>C | CA327513 | CFTR | c.476T>C (p.Leu159Ser) c.*373T>C (n.*373T>C) c.*300T>C (n.*300T>C) c.233T>C (p.Leu78Ser) c.566T>C (p.Leu189Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117531101T>G | CA368975111 | CFTR | c.476T>G (p.Leu159Trp) c.*373T>G (n.*373T>G) c.*300T>G (n.*300T>G) c.233T>G (p.Leu78Trp) c.566T>G (p.Leu189Trp) | |
| 7 | g.117531101T= | CA1737359748 | CFTR | c.476T= (p.Leu159=) c.*373T= (n.*373T=) c.*300T= (n.*300T=) c.233T= (p.Leu78=) c.566T= (p.Leu189=) | |
| 7 | g.117531102G>A | CA457448726 | CFTR | c.477G>A (p.Leu159=) c.*374G>A (n.*374G>A) c.*301G>A (n.*301G>A) c.234G>A (p.Leu78=) c.567G>A (p.Leu189=) | |
| 7 | g.117531102G>C | CA368975113 | CFTR | c.477G>C (p.Leu159Phe) c.*374G>C (n.*374G>C) c.*301G>C (n.*301G>C) c.234G>C (p.Leu78Phe) c.567G>C (p.Leu189Phe) | |
| 7 | g.117531102G>T | CA368975116 | CFTR | c.477G>T (p.Leu159Phe) c.*374G>T (n.*374G>T) c.*301G>T (n.*301G>T) c.234G>T (p.Leu78Phe) c.567G>T (p.Leu189Phe) | gnomAD v4 |
| 7 | g.117531103A= | CA1737359755 | CFTR | c.478A= (p.Ile160=) c.*375A= (n.*375A=) c.*302A= (n.*302A=) c.235A= (p.Ile79=) c.568A= (p.Ile190=) | |
| 7 | g.117531103A>C | CA368975129 | CFTR | c.478A>C (p.Ile160Leu) c.*375A>C (n.*375A>C) c.*302A>C (n.*302A>C) c.235A>C (p.Ile79Leu) c.568A>C (p.Ile190Leu) | |
| 7 | g.117531103A>G | CA368975125 | CFTR | c.478A>G (p.Ile160Val) c.*375A>G (n.*375A>G) c.*302A>G (n.*302A>G) c.235A>G (p.Ile79Val) c.568A>G (p.Ile190Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117531103A>T | CA368975121 | CFTR | c.478A>T (p.Ile160Phe) c.*375A>T (n.*375A>T) c.*302A>T (n.*302A>T) c.235A>T (p.Ile79Phe) c.568A>T (p.Ile190Phe) | |
| 7 | g.117531105_117531108del | CA2580076320 | CFTR | c.480_483del (p.Tyr161ArgfsTer4) c.*377_*380del (n.*377_*380del) c.*304_*307del (n.*304_*307del) c.237_240del (p.Tyr80ArgfsTer4) c.480_483del (p.Tyr161ArgfsTer23) c.570_573del (p.Tyr191ArgfsTer4) | ClinVar |
| 7 | g.117531104T>A | CA368975146 | CFTR | c.479T>A (p.Ile160Asn) c.*376T>A (n.*376T>A) c.*303T>A (n.*303T>A) c.236T>A (p.Ile79Asn) c.569T>A (p.Ile190Asn) | |
| 7 | g.117531104T>C | CA368975151 | CFTR | c.479T>C (p.Ile160Thr) c.*376T>C (n.*376T>C) c.*303T>C (n.*303T>C) c.236T>C (p.Ile79Thr) c.569T>C (p.Ile190Thr) | ClinVar |
| 7 | g.117531104T>G | CA368975148 | CFTR | c.479T>G (p.Ile160Ser) c.*376T>G (n.*376T>G) c.*303T>G (n.*303T>G) c.236T>G (p.Ile79Ser) c.569T>G (p.Ile190Ser) | gnomAD v4 |
| 7 | g.117531106del | CA2695208298 | CFTR | c.481del (p.Tyr161IlefsTer5) c.*378del (n.*378del) c.*305del (n.*305del) c.238del (p.Tyr80IlefsTer5) c.481del (p.Tyr161IlefsTer24) c.571del (p.Tyr191IlefsTer5) | |
| 7 | g.117531105T>A | CA327515 | CFTR | c.480T>A (p.Ile160=) c.*377T>A (n.*377T>A) c.*304T>A (n.*304T>A) c.237T>A (p.Ile79=) c.570T>A (p.Ile190=) | dbSNP |
| 7 | g.117531105T>C | CA457448727 | CFTR | c.480T>C (p.Ile160=) c.*377T>C (n.*377T>C) c.*304T>C (n.*304T>C) c.237T>C (p.Ile79=) c.570T>C (p.Ile190=) | ClinVar |
| 7 | g.117531105T>G | CA368975156 | CFTR | c.480T>G (p.Ile160Met) c.*377T>G (n.*377T>G) c.*304T>G (n.*304T>G) c.237T>G (p.Ile79Met) c.570T>G (p.Ile190Met) | |
| 7 | g.117531105T= | CA1737359763 | CFTR | c.480T= (p.Ile160=) c.*377T= (n.*377T=) c.*304T= (n.*304T=) c.237T= (p.Ile79=) c.570T= (p.Ile190=) | |
| 7 | g.117531106T>A | CA327517 | CFTR | c.481T>A (p.Tyr161Asn) c.*378T>A (n.*378T>A) c.*305T>A (n.*305T>A) c.238T>A (p.Tyr80Asn) c.571T>A (p.Tyr191Asn) | ClinVar dbSNP |
| 7 | g.117531106T>C | CA368975162 | CFTR | c.481T>C (p.Tyr161His) c.*378T>C (n.*378T>C) c.*305T>C (n.*305T>C) c.238T>C (p.Tyr80His) c.571T>C (p.Tyr191His) | |
| 7 | g.117531106T>G | CA327519 | CFTR | c.481T>G (p.Tyr161Asp) c.*378T>G (n.*378T>G) c.*305T>G (n.*305T>G) c.238T>G (p.Tyr80Asp) c.571T>G (p.Tyr191Asp) | ClinVar dbSNP |
| 7 | g.117531106T= | CA1737359769 | CFTR | c.481T= (p.Tyr161=) c.*378T= (n.*378T=) c.*305T= (n.*305T=) c.238T= (p.Tyr80=) c.571T= (p.Tyr191=) | |
| 7 | g.117531107del | CA2695199630 | CFTR | c.482del (p.Tyr161LeufsTer5) c.*379del (n.*379del) c.*306del (n.*306del) c.239del (p.Tyr80LeufsTer5) c.482del (p.Tyr161LeufsTer24) c.572del (p.Tyr191LeufsTer5) | ClinVar |
| 7 | g.117531107A= | CA1737359775 | CFTR | c.482A= (p.Tyr161=) c.*379A= (n.*379A=) c.*306A= (n.*306A=) c.239A= (p.Tyr80=) c.572A= (p.Tyr191=) | |
| 7 | g.117531107A>C | CA327521 | CFTR | c.482A>C (p.Tyr161Ser) c.*379A>C (n.*379A>C) c.*306A>C (n.*306A>C) c.239A>C (p.Tyr80Ser) c.572A>C (p.Tyr191Ser) | dbSNP |
| 7 | g.117531107A>G | CA327523 | CFTR | c.482A>G (p.Tyr161Cys) c.*379A>G (n.*379A>G) c.*306A>G (n.*306A>G) c.239A>G (p.Tyr80Cys) c.572A>G (p.Tyr191Cys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117531107A>T | CA368975175 | CFTR | c.482A>T (p.Tyr161Phe) c.*379A>T (n.*379A>T) c.*306A>T (n.*306A>T) c.239A>T (p.Tyr80Phe) c.572A>T (p.Tyr191Phe) | |
| 7 | g.117531108T>A | CA368975179 | CFTR | c.483T>A (p.Tyr161Ter) c.*380T>A (n.*380T>A) c.*307T>A (n.*307T>A) c.240T>A (p.Tyr80Ter) c.573T>A (p.Tyr191Ter) | |
| 7 | g.117531108T>C | CA457448728 | CFTR | c.483T>C (p.Tyr161=) c.*380T>C (n.*380T>C) c.*307T>C (n.*307T>C) c.240T>C (p.Tyr80=) c.573T>C (p.Tyr191=) | |
| 7 | g.117531108T>G | CA368975181 | CFTR | c.483T>G (p.Tyr161Ter) c.*380T>G (n.*380T>G) c.*307T>G (n.*307T>G) c.240T>G (p.Tyr80Ter) c.573T>G (p.Tyr191Ter) | |
| 7 | g.117531108T= | CA1737359778 | CFTR | c.483T= (p.Tyr161=) c.*380T= (n.*380T=) c.*307T= (n.*307T=) c.240T= (p.Tyr80=) c.573T= (p.Tyr191=) | |
| 7 | g.117531108_117531109insCC | CA915945473 | CFTR | c.483_484insCC (p.Lys162ProfsTer5) c.*380_*381insCC (n.*380_*381insCC) c.*307_*308insCC (n.*307_*308insCC) c.240_241insCC (p.Lys81ProfsTer5) c.483_484insCC (p.Lys162ProfsTer24) c.573_574insCC (p.Lys192ProfsTer5) | ClinVar dbSNP |
| 7 | g.117531109A= | CA1737359783 | CFTR | c.484A= (p.Lys162=) c.*381A= (n.*381A=) c.*308A= (n.*308A=) c.241A= (p.Lys81=) c.574A= (p.Lys192=) | |
| 7 | g.117531109A>C | CA368975184 | CFTR | c.484A>C (p.Lys162Gln) c.*381A>C (n.*381A>C) c.*308A>C (n.*308A>C) c.241A>C (p.Lys81Gln) c.574A>C (p.Lys192Gln) | |
| 7 | g.117531109A>G | CA327525 | CFTR | c.484A>G (p.Lys162Glu) c.*381A>G (n.*381A>G) c.*308A>G (n.*308A>G) c.241A>G (p.Lys81Glu) c.574A>G (p.Lys192Glu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117531109A>T | CA368975200 | CFTR | c.484A>T (p.Lys162Ter) c.*381A>T (n.*381A>T) c.*308A>T (n.*308A>T) c.241A>T (p.Lys81Ter) c.574A>T (p.Lys192Ter) | COSMIC |
| 7 | g.117531110A>C | CA368975205 | CFTR | c.485A>C (p.Lys162Thr) c.*382A>C (n.*382A>C) c.*309A>C (n.*309A>C) c.242A>C (p.Lys81Thr) c.575A>C (p.Lys192Thr) | |
| 7 | g.117531110A>G | CA368975203 | CFTR | c.485A>G (p.Lys162Arg) c.*382A>G (n.*382A>G) c.*309A>G (n.*309A>G) c.242A>G (p.Lys81Arg) c.575A>G (p.Lys192Arg) | |
| 7 | g.117531110A>T | CA368975204 | CFTR | c.485A>T (p.Lys162Met) c.*382A>T (n.*382A>T) c.*309A>T (n.*309A>T) c.242A>T (p.Lys81Met) c.575A>T (p.Lys192Met) | |
| 7 | g.117531111G>A | CA457448729 | CFTR | c.486G>A (p.Lys162=) c.*383G>A (n.*383G>A) c.*310G>A (n.*310G>A) c.243G>A (p.Lys81=) c.576G>A (p.Lys192=) | |
| 7 | g.117531111G>C | CA368975207 | CFTR | c.486G>C (p.Lys162Asn) c.*383G>C (n.*383G>C) c.*310G>C (n.*310G>C) c.243G>C (p.Lys81Asn) c.576G>C (p.Lys192Asn) | gnomAD v4 |
| 7 | g.117531111G>T | CA368975210 | CFTR | c.486G>T (p.Lys162Asn) c.*383G>T (n.*383G>T) c.*310G>T (n.*310G>T) c.243G>T (p.Lys81Asn) c.576G>T (p.Lys192Asn) | |
| 7 | g.117531111_117531112delinsGA | CA1737359787 | CFTR | c.486_487delinsGA (p.Lys162=) c.*383_*384delinsGA (n.*383_*384delinsGA) c.*310_*311delinsGA (n.*310_*311delinsGA) c.243_244delinsGA (p.Lys81=) c.576_577delinsGA (p.Lys192=) | |
| 7 | g.117531112A= | CA1737359792 | CFTR | c.487A= (p.Lys163=) c.*384A= (n.*384A=) c.*311A= (n.*311A=) c.244A= (p.Lys82=) c.577A= (p.Lys193=) | |
| 7 | g.117531112A>C | CA368975225 | CFTR | c.487A>C (p.Lys163Gln) c.*384A>C (n.*384A>C) c.*311A>C (n.*311A>C) c.244A>C (p.Lys82Gln) c.577A>C (p.Lys193Gln) | |
| 7 | g.117531112A>G | CA368975228 | CFTR | c.487A>G (p.Lys163Glu) c.*384A>G (n.*384A>G) c.*311A>G (n.*311A>G) c.244A>G (p.Lys82Glu) c.577A>G (p.Lys193Glu) | ClinVar dbSNP |
| 7 | g.117531112A>T | CA368975232 | CFTR | c.487A>T (p.Lys163Ter) c.*384A>T (n.*384A>T) c.*311A>T (n.*311A>T) c.244A>T (p.Lys82Ter) c.577A>T (p.Lys193Ter) | |
| 7 | g.117531113del | CA658683488 | CFTR | c.488del (p.Lys163ArgfsTer3) c.*385del (n.*385del) c.*312del (n.*312del) c.245del (p.Lys82ArgfsTer3) c.488del (p.Lys163ArgfsTer22) c.578del (p.Lys193ArgfsTer3) | ClinVar dbSNP |
| 7 | g.117531113A= | CA1737359796 | CFTR | c.488A= (p.Lys163=) c.*385A= (n.*385A=) c.*312A= (n.*312A=) c.245A= (p.Lys82=) c.578A= (p.Lys193=) | |
| 7 | g.117531113A>C | CA368975234 | CFTR | c.488A>C (p.Lys163Thr) c.*385A>C (n.*385A>C) c.*312A>C (n.*312A>C) c.245A>C (p.Lys82Thr) c.578A>C (p.Lys193Thr) | ClinVar dbSNP |
| 7 | g.117531113A>G | CA368975236 | CFTR | c.488A>G (p.Lys163Arg) c.*385A>G (n.*385A>G) c.*312A>G (n.*312A>G) c.245A>G (p.Lys82Arg) c.578A>G (p.Lys193Arg) | |
| 7 | g.117531113A>T | CA368975237 | CFTR | c.488A>T (p.Lys163Met) c.*385A>T (n.*385A>T) c.*312A>T (n.*312A>T) c.245A>T (p.Lys82Met) c.578A>T (p.Lys193Met) | ClinVar dbSNP |
| 7 | g.117531114G>A | CA327530 | CFTR | c.489G>A (p.Lys163=) c.*386G>A (n.*386G>A) c.*313G>A (n.*313G>A) c.246G>A (p.Lys82=) c.579G>A (p.Lys193=) | ClinVar dbSNP |
| 7 | g.117531114G>C | CA368975241 | CFTR | c.489G>C (p.Lys163Asn) c.*386G>C (n.*386G>C) c.*313G>C (n.*313G>C) c.246G>C (p.Lys82Asn) c.579G>C (p.Lys193Asn) | |
| 7 | g.117531114G= | CA1737359802 | CFTR | c.489G= (p.Lys163=) c.*386G= (n.*386G=) c.*313G= (n.*313G=) c.246G= (p.Lys82=) c.579G= (p.Lys193=) | |
| 7 | g.117531114G>T | CA368975243 | CFTR | c.489G>T (p.Lys163Asn) c.*386G>T (n.*386G>T) c.*313G>T (n.*313G>T) c.246G>T (p.Lys82Asn) c.579G>T (p.Lys193Asn) | |
| 7 | g.117531115G>A | CA368975249 | CFTR | c.489+1G>A (n.489+1G>A) c.*386+1G>A (n.*386+1G>A) c.*313+1G>A (n.*313+1G>A) c.246+1G>A (n.246+1G>A) c.579+1G>A (n.579+1G>A) | ClinVar dbSNP COSMIC |
| 7 | g.117531115G>C | CA368975252 | CFTR | c.489+1G>C (n.489+1G>C) c.*386+1G>C (n.*386+1G>C) c.*313+1G>C (n.*313+1G>C) c.246+1G>C (n.246+1G>C) c.579+1G>C (n.579+1G>C) | |
| 7 | g.117531115G= | CA1737359808 | CFTR | c.489+1G= (n.489+1G=) c.*386+1G= (n.*386+1G=) c.*313+1G= (n.*313+1G=) c.246+1G= (n.246+1G=) c.579+1G= (n.579+1G=) | |
| 7 | g.117531115G>T | CA344708 | CFTR | c.489+1G>T (n.489+1G>T) c.*386+1G>T (n.*386+1G>T) c.*313+1G>T (n.*313+1G>T) c.246+1G>T (n.246+1G>T) c.579+1G>T (n.579+1G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |