| 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.117531002_117531009del | CA2684617326 | CFTR | c.377_384del (p.Gly126AlafsTer30) c.*274_*281del (n.*274_*281del) c.*201_*208del (n.*201_*208del) c.134_141del (p.Gly45AlafsTer30) c.467_474del (p.Gly156AlafsTer30) | gnomAD v4 |
| 7 | g.117531008G>A | CA368974552 | CFTR | c.383G>A (p.Cys128Tyr) c.*280G>A (n.*280G>A) c.*207G>A (n.*207G>A) c.140G>A (p.Cys47Tyr) c.473G>A (p.Cys158Tyr) | |
| 7 | g.117531008G>C | CA368974547 | CFTR | c.383G>C (p.Cys128Ser) c.*280G>C (n.*280G>C) c.*207G>C (n.*207G>C) c.140G>C (p.Cys47Ser) c.473G>C (p.Cys158Ser) | |
| 7 | g.117531008G>T | CA368974550 | CFTR | c.383G>T (p.Cys128Phe) c.*280G>T (n.*280G>T) c.*207G>T (n.*207G>T) c.140G>T (p.Cys47Phe) c.473G>T (p.Cys158Phe) | |
| 7 | g.117531009C>A | CA368974554 | CFTR | c.384C>A (p.Cys128Ter) c.*281C>A (n.*281C>A) c.*208C>A (n.*208C>A) c.141C>A (p.Cys47Ter) c.474C>A (p.Cys158Ter) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 7 | g.117531009C= | CA1737359506 | CFTR | c.384C= (p.Cys128=) c.*281C= (n.*281C=) c.*208C= (n.*208C=) c.141C= (p.Cys47=) c.474C= (p.Cys158=) | |
| 7 | g.117531009C>G | CA368974556 | CFTR | c.384C>G (p.Cys128Trp) c.*281C>G (n.*281C>G) c.*208C>G (n.*208C>G) c.141C>G (p.Cys47Trp) c.474C>G (p.Cys158Trp) | |
| 7 | g.117531009C>T | CA457448662 | CFTR | c.384C>T (p.Cys128=) c.*281C>T (n.*281C>T) c.*208C>T (n.*208C>T) c.141C>T (p.Cys47=) c.474C>T (p.Cys158=) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117531010C>A | CA368974558 | CFTR | c.385C>A (p.Leu129Ile) c.*282C>A (n.*282C>A) c.*209C>A (n.*209C>A) c.142C>A (p.Leu48Ile) c.475C>A (p.Leu159Ile) | |
| 7 | g.117531010C>G | CA368974564 | CFTR | c.385C>G (p.Leu129Val) c.*282C>G (n.*282C>G) c.*209C>G (n.*209C>G) c.142C>G (p.Leu48Val) c.475C>G (p.Leu159Val) | |
| 7 | g.117531010C>T | CA368974566 | CFTR | c.385C>T (p.Leu129Phe) c.*282C>T (n.*282C>T) c.*209C>T (n.*209C>T) c.142C>T (p.Leu48Phe) c.475C>T (p.Leu159Phe) | gnomAD v4 |
| 7 | g.117531010_117531011delinsCT | CA1737359507 | CFTR | c.385_386delinsCT (p.Leu129=) c.*282_*283delinsCT (n.*282_*283delinsCT) c.*209_*210delinsCT (n.*209_*210delinsCT) c.142_143delinsCT (p.Leu48=) c.475_476delinsCT (p.Leu159=) | |
| 7 | g.117531011T>A | CA368974567 | CFTR | c.386T>A (p.Leu129His) c.*283T>A (n.*283T>A) c.*210T>A (n.*210T>A) c.143T>A (p.Leu48His) c.476T>A (p.Leu159His) | dbSNP gnomAD v2 |
| 7 | g.117531011T>C | CA368974570 | CFTR | c.386T>C (p.Leu129Pro) c.*283T>C (n.*283T>C) c.*210T>C (n.*210T>C) c.143T>C (p.Leu48Pro) c.476T>C (p.Leu159Pro) | ClinVar |
| 7 | g.117531011T>G | CA368974571 | CFTR | c.386T>G (p.Leu129Arg) c.*283T>G (n.*283T>G) c.*210T>G (n.*210T>G) c.143T>G (p.Leu48Arg) c.476T>G (p.Leu159Arg) | ClinVar |
| 7 | g.117531011T= | CA1737359508 | CFTR | c.386T= (p.Leu129=) c.*283T= (n.*283T=) c.*210T= (n.*210T=) c.143T= (p.Leu48=) c.476T= (p.Leu159=) | |
| 7 | g.117531012del | CA327325 | CFTR | c.387del (p.Leu130SerfsTer4) c.*284del (n.*284del) c.*211del (n.*211del) c.144del (p.Leu49SerfsTer4) c.477del (p.Leu160SerfsTer4) | ClinVar dbSNP |
| 7 | g.117531012T>A | CA457448665 | CFTR | c.387T>A (p.Leu129=) c.*284T>A (n.*284T>A) c.*211T>A (n.*211T>A) c.144T>A (p.Leu48=) c.477T>A (p.Leu159=) | |
| 7 | g.117531012T>C | CA457448666 | CFTR | c.387T>C (p.Leu129=) c.*284T>C (n.*284T>C) c.*211T>C (n.*211T>C) c.144T>C (p.Leu48=) c.477T>C (p.Leu159=) | ClinVar dbSNP |
| 7 | g.117531012T>G | CA457448667 | CFTR | c.387T>G (p.Leu129=) c.*284T>G (n.*284T>G) c.*211T>G (n.*211T>G) c.144T>G (p.Leu48=) c.477T>G (p.Leu159=) | |
| 7 | g.117531012T= | CA1737359510 | CFTR | c.387T= (p.Leu129=) c.*284T= (n.*284T=) c.*211T= (n.*211T=) c.144T= (p.Leu48=) c.477T= (p.Leu159=) | |
| 7 | g.117531013C>A | CA368974576 | CFTR | c.388C>A (p.Leu130Ile) c.*285C>A (n.*285C>A) c.*212C>A (n.*212C>A) c.145C>A (p.Leu49Ile) c.478C>A (p.Leu160Ile) | |
| 7 | g.117531013C= | CA1737359511 | CFTR | c.388C= (p.Leu130=) c.*285C= (n.*285C=) c.*212C= (n.*212C=) c.145C= (p.Leu49=) c.478C= (p.Leu160=) | |
| 7 | g.117531013C>G | CA327329 | CFTR | c.388C>G (p.Leu130Val) c.*285C>G (n.*285C>G) c.*212C>G (n.*212C>G) c.145C>G (p.Leu49Val) c.478C>G (p.Leu160Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117531013C>T | CA368974579 | CFTR | c.388C>T (p.Leu130Phe) c.*285C>T (n.*285C>T) c.*212C>T (n.*212C>T) c.145C>T (p.Leu49Phe) c.478C>T (p.Leu160Phe) | |
| 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) |