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.117531014T>A | CA368974583 | CFTR | c.389T>A (p.Leu130His) c.*286T>A (n.*286T>A) c.*213T>A (n.*213T>A) c.146T>A (p.Leu49His) c.479T>A (p.Leu160His) | |
7 | g.117531014T>C | CA368974588 | CFTR | c.389T>C (p.Leu130Pro) c.*286T>C (n.*286T>C) c.*213T>C (n.*213T>C) c.146T>C (p.Leu49Pro) c.479T>C (p.Leu160Pro) | ClinVar dbSNP |
7 | g.117531014T>G | CA368974586 | CFTR | c.389T>G (p.Leu130Arg) c.*286T>G (n.*286T>G) c.*213T>G (n.*213T>G) c.146T>G (p.Leu49Arg) c.479T>G (p.Leu160Arg) | |
7 | g.117531014T= | CA1737359512 | CFTR | c.389T= (p.Leu130=) c.*286T= (n.*286T=) c.*213T= (n.*213T=) c.146T= (p.Leu49=) c.479T= (p.Leu160=) | |
7 | g.117531015C>A | CA457448669 | CFTR | c.390C>A (p.Leu130=) c.*287C>A (n.*287C>A) c.*214C>A (n.*214C>A) c.147C>A (p.Leu49=) c.480C>A (p.Leu160=) | |
7 | g.117531015C= | CA1737359514 | CFTR | c.390C= (p.Leu130=) c.*287C= (n.*287C=) c.*214C= (n.*214C=) c.147C= (p.Leu49=) c.480C= (p.Leu160=) | |
7 | g.117531015C>G | CA457448670 | CFTR | c.390C>G (p.Leu130=) c.*287C>G (n.*287C>G) c.*214C>G (n.*214C>G) c.147C>G (p.Leu49=) c.480C>G (p.Leu160=) | ClinVar dbSNP gnomAD v4 |
7 | g.117531015C>T | CA457448671 | CFTR | c.390C>T (p.Leu130=) c.*287C>T (n.*287C>T) c.*214C>T (n.*214C>T) c.147C>T (p.Leu49=) c.480C>T (p.Leu160=) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.117531015_117531016delinsCT | CA1737359513 | CFTR | c.390_391delinsCT (p.Leu130=) c.*287_*288delinsCT (n.*287_*288delinsCT) c.*214_*215delinsCT (n.*214_*215delinsCT) c.147_148delinsCT (p.Leu49=) c.480_481delinsCT (p.Leu160=) | |
7 | g.117531016T>A | CA368974593 | CFTR | c.391T>A (p.Phe131Ile) c.*288T>A (n.*288T>A) c.*215T>A (n.*215T>A) c.148T>A (p.Phe50Ile) c.481T>A (p.Phe161Ile) | |
7 | g.117531016T>C | CA4450715 | CFTR | c.391T>C (p.Phe131Leu) c.*288T>C (n.*288T>C) c.*215T>C (n.*215T>C) c.148T>C (p.Phe50Leu) c.481T>C (p.Phe161Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117531016T>G | CA368974597 | CFTR | c.391T>G (p.Phe131Val) c.*288T>G (n.*288T>G) c.*215T>G (n.*215T>G) c.148T>G (p.Phe50Val) c.481T>G (p.Phe161Val) | |
7 | g.117531016T= | CA1737359515 | CFTR | c.391T= (p.Phe131=) c.*288T= (n.*288T=) c.*215T= (n.*215T=) c.148T= (p.Phe50=) c.481T= (p.Phe161=) | |
7 | g.117531018del | CA327359 | CFTR | c.393del (p.Phe131LeufsTer3) c.*290del (n.*290del) c.*217del (n.*217del) c.150del (p.Phe50LeufsTer3) c.483del (p.Phe161LeufsTer3) | ClinVar dbSNP |
7 | g.117531017T>A | CA368974602 | CFTR | c.392T>A (p.Phe131Tyr) c.*289T>A (n.*289T>A) c.*216T>A (n.*216T>A) c.149T>A (p.Phe50Tyr) c.482T>A (p.Phe161Tyr) | gnomAD v4 |
7 | g.117531017T>C | CA368974604 | CFTR | c.392T>C (p.Phe131Ser) c.*289T>C (n.*289T>C) c.*216T>C (n.*216T>C) c.149T>C (p.Phe50Ser) c.482T>C (p.Phe161Ser) | |
7 | g.117531017T>G | CA368974606 | CFTR | c.392T>G (p.Phe131Cys) c.*289T>G (n.*289T>G) c.*216T>G (n.*216T>G) c.149T>G (p.Phe50Cys) c.482T>G (p.Phe161Cys) | |
7 | g.117531017_117531022delinsTTATTG | CA1737359516 | CFTR | c.392_397delinsTTATTG (p.Phe131=) c.*289_*294delinsTTATTG (n.*289_*294delinsTTATTG) c.*216_*221delinsTTATTG (n.*216_*221delinsTTATTG) c.149_154delinsTTATTG (p.Phe50=) c.482_487delinsTTATTG (p.Phe161=) | |
7 | g.117531018T>A | CA368974609 | CFTR | c.393T>A (p.Phe131Leu) c.*290T>A (n.*290T>A) c.*217T>A (n.*217T>A) c.150T>A (p.Phe50Leu) c.483T>A (p.Phe161Leu) | |
7 | g.117531018T>C | CA16612013 | CFTR | c.393T>C (p.Phe131=) c.*290T>C (n.*290T>C) c.*217T>C (n.*217T>C) c.150T>C (p.Phe50=) c.483T>C (p.Phe161=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117531018T>G | CA368974612 | CFTR | c.393T>G (p.Phe131Leu) c.*290T>G (n.*290T>G) c.*217T>G (n.*217T>G) c.150T>G (p.Phe50Leu) c.483T>G (p.Phe161Leu) | |
7 | g.117531018T= | CA1737359517 | CFTR | c.393T= (p.Phe131=) c.*290T= (n.*290T=) c.*217T= (n.*217T=) c.150T= (p.Phe50=) c.483T= (p.Phe161=) | |
7 | g.117531019_117531023del | CA1139660221 | CFTR | c.394_398del (p.Ile132GlufsTer25) c.*291_*295del (n.*291_*295del) c.*218_*222del (n.*218_*222del) c.151_155del (p.Ile51GlufsTer25) c.484_488del (p.Ile162GlufsTer25) | ClinVar dbSNP |
7 | g.117531019del | CA2728957964 | CFTR | c.394del (p.Ile132LeufsTer2) c.*291del (n.*291del) c.*218del (n.*218del) c.151del (p.Ile51LeufsTer2) c.484del (p.Ile162LeufsTer2) | |
7 | g.117531019A= | CA1737359518 | CFTR | c.394A= (p.Ile132=) c.*291A= (n.*291A=) c.*218A= (n.*218A=) c.151A= (p.Ile51=) c.484A= (p.Ile162=) | |
7 | g.117531019A>C | CA368974615 | CFTR | c.394A>C (p.Ile132Leu) c.*291A>C (n.*291A>C) c.*218A>C (n.*218A>C) c.151A>C (p.Ile51Leu) c.484A>C (p.Ile162Leu) | |
7 | g.117531019A>G | CA4450716 | CFTR | c.394A>G (p.Ile132Val) c.*291A>G (n.*291A>G) c.*218A>G (n.*218A>G) c.151A>G (p.Ile51Val) c.484A>G (p.Ile162Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.117531019A>T | CA368974618 | CFTR | c.394A>T (p.Ile132Phe) c.*291A>T (n.*291A>T) c.*218A>T (n.*218A>T) c.151A>T (p.Ile51Phe) c.484A>T (p.Ile162Phe) | |
7 | g.117531019_117531020delinsAT | CA1737359519 | CFTR | c.394_395delinsAT (p.Ile132=) c.*291_*292delinsAT (n.*291_*292delinsAT) c.*218_*219delinsAT (n.*218_*219delinsAT) c.151_152delinsAT (p.Ile51=) c.484_485delinsAT (p.Ile162=) | |
7 | g.117531020T>A | CA368974624 | CFTR | c.395T>A (p.Ile132Asn) c.*292T>A (n.*292T>A) c.*219T>A (n.*219T>A) c.152T>A (p.Ile51Asn) c.485T>A (p.Ile162Asn) | |
7 | g.117531020T>C | CA368974620 | CFTR | c.395T>C (p.Ile132Thr) c.*292T>C (n.*292T>C) c.*219T>C (n.*219T>C) c.152T>C (p.Ile51Thr) c.485T>C (p.Ile162Thr) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.117531020T>G | CA368974622 | CFTR | c.395T>G (p.Ile132Ser) c.*292T>G (n.*292T>G) c.*219T>G (n.*219T>G) c.152T>G (p.Ile51Ser) c.485T>G (p.Ile162Ser) | |
7 | g.117531020T= | CA1737359521 | CFTR | c.395T= (p.Ile132=) c.*292T= (n.*292T=) c.*219T= (n.*219T=) c.152T= (p.Ile51=) c.485T= (p.Ile162=) | |
7 | g.117531021del | CA1737359520 | CFTR | c.396del (p.Ile132MetfsTer2) c.*293del (n.*293del) c.*220del (n.*220del) c.153del (p.Ile51MetfsTer2) c.486del (p.Ile162MetfsTer2) | ClinVar dbSNP |
7 | g.117531021T>A | CA457448674 | CFTR | c.396T>A (p.Ile132=) c.*293T>A (n.*293T>A) c.*220T>A (n.*220T>A) c.153T>A (p.Ile51=) c.486T>A (p.Ile162=) | |
7 | g.117531021T>C | CA457448675 | CFTR | c.396T>C (p.Ile132=) c.*293T>C (n.*293T>C) c.*220T>C (n.*220T>C) c.153T>C (p.Ile51=) c.486T>C (p.Ile162=) | ClinVar |
7 | g.117531021T>G | CA368974626 | CFTR | c.396T>G (p.Ile132Met) c.*293T>G (n.*293T>G) c.*220T>G (n.*220T>G) c.153T>G (p.Ile51Met) c.486T>G (p.Ile162Met) | gnomAD v4 |
7 | g.117531022G>A | CA368974630 | CFTR | c.397G>A (p.Val133Met) c.*294G>A (n.*294G>A) c.*221G>A (n.*221G>A) c.154G>A (p.Val52Met) c.487G>A (p.Val163Met) | |
7 | g.117531022G>C | CA368974633 | CFTR | c.397G>C (p.Val133Leu) c.*294G>C (n.*294G>C) c.*221G>C (n.*221G>C) c.154G>C (p.Val52Leu) c.487G>C (p.Val163Leu) | gnomAD v4 |
7 | g.117531022G>T | CA368974635 | CFTR | c.397G>T (p.Val133Leu) c.*294G>T (n.*294G>T) c.*221G>T (n.*221G>T) c.154G>T (p.Val52Leu) c.487G>T (p.Val163Leu) | gnomAD v4 |
7 | g.117531023T>A | CA368974637 | CFTR | c.398T>A (p.Val133Glu) c.*295T>A (n.*295T>A) c.*222T>A (n.*222T>A) c.155T>A (p.Val52Glu) c.488T>A (p.Val163Glu) | |
7 | g.117531023T>C | CA368974639 | CFTR | c.398T>C (p.Val133Ala) c.*295T>C (n.*295T>C) c.*222T>C (n.*222T>C) c.155T>C (p.Val52Ala) c.488T>C (p.Val163Ala) | |
7 | g.117531023T>G | CA368974643 | CFTR | c.398T>G (p.Val133Gly) c.*295T>G (n.*295T>G) c.*222T>G (n.*222T>G) c.155T>G (p.Val52Gly) c.488T>G (p.Val163Gly) | |
7 | g.117531024G>A | CA457448676 | CFTR | c.399G>A (p.Val133=) c.*296G>A (n.*296G>A) c.*223G>A (n.*223G>A) c.156G>A (p.Val52=) c.489G>A (p.Val163=) | gnomAD v4 |
7 | g.117531024G>C | CA457448677 | CFTR | c.399G>C (p.Val133=) c.*296G>C (n.*296G>C) c.*223G>C (n.*223G>C) c.156G>C (p.Val52=) c.489G>C (p.Val163=) | |
7 | g.117531024G>T | CA457448678 | CFTR | c.399G>T (p.Val133=) c.*296G>T (n.*296G>T) c.*223G>T (n.*223G>T) c.156G>T (p.Val52=) c.489G>T (p.Val163=) |