| 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.117531001G>A | CA327284 | CFTR | c.376G>A (p.Gly126Ser) c.*273G>A (n.*273G>A) c.*200G>A (n.*200G>A) c.133G>A (p.Gly45Ser) c.466G>A (p.Gly156Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117531001G>C | CA368974524 | CFTR | c.376G>C (p.Gly126Arg) c.*273G>C (n.*273G>C) c.*200G>C (n.*200G>C) c.133G>C (p.Gly45Arg) c.466G>C (p.Gly156Arg) | COSMIC |
| 7 | g.117531001G= | CA1737359472 | CFTR | c.376G= (p.Gly126=) c.*273G= (n.*273G=) c.*200G= (n.*200G=) c.133G= (p.Gly45=) c.466G= (p.Gly156=) | |
| 7 | g.117531001G>T | CA368974526 | CFTR | c.376G>T (p.Gly126Cys) c.*273G>T (n.*273G>T) c.*200G>T (n.*200G>T) c.133G>T (p.Gly45Cys) c.466G>T (p.Gly156Cys) | |
| 7 | g.117531002G>A | CA327290 | CFTR | c.377G>A (p.Gly126Asp) c.*274G>A (n.*274G>A) c.*201G>A (n.*201G>A) c.134G>A (p.Gly45Asp) c.467G>A (p.Gly156Asp) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117531002G>C | CA368974527 | CFTR | c.377G>C (p.Gly126Ala) c.*274G>C (n.*274G>C) c.*201G>C (n.*201G>C) c.134G>C (p.Gly45Ala) c.467G>C (p.Gly156Ala) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117531002G= | CA1737359481 | CFTR | c.377G= (p.Gly126=) c.*274G= (n.*274G=) c.*201G= (n.*201G=) c.134G= (p.Gly45=) c.467G= (p.Gly156=) | |
| 7 | g.117531002G>T | CA368974528 | CFTR | c.377G>T (p.Gly126Val) c.*274G>T (n.*274G>T) c.*201G>T (n.*201G>T) c.134G>T (p.Gly45Val) c.467G>T (p.Gly156Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 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.117531003C>A | CA457448651 | CFTR | c.378C>A (p.Gly126=) c.*275C>A (n.*275C>A) c.*202C>A (n.*202C>A) c.135C>A (p.Gly45=) c.468C>A (p.Gly156=) | |
| 7 | g.117531003C= | CA1737359488 | CFTR | c.378C= (p.Gly126=) c.*275C= (n.*275C=) c.*202C= (n.*202C=) c.135C= (p.Gly45=) c.468C= (p.Gly156=) | |
| 7 | g.117531003C>G | CA457448652 | CFTR | c.378C>G (p.Gly126=) c.*275C>G (n.*275C>G) c.*202C>G (n.*202C>G) c.135C>G (p.Gly45=) c.468C>G (p.Gly156=) | |
| 7 | g.117531003C>T | CA457448653 | CFTR | c.378C>T (p.Gly126=) c.*275C>T (n.*275C>T) c.*202C>T (n.*202C>T) c.135C>T (p.Gly45=) c.468C>T (p.Gly156=) | ClinVar COSMIC |
| 7 | g.117531004T>A | CA368974529 | CFTR | c.379T>A (p.Leu127Ile) c.*276T>A (n.*276T>A) c.*203T>A (n.*203T>A) c.136T>A (p.Leu46Ile) c.469T>A (p.Leu157Ile) | |
| 7 | g.117531004T>C | CA457448654 | CFTR | c.379T>C (p.Leu127=) c.*276T>C (n.*276T>C) c.*203T>C (n.*203T>C) c.136T>C (p.Leu46=) c.469T>C (p.Leu157=) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117531004T>G | CA368974531 | CFTR | c.379T>G (p.Leu127Val) c.*276T>G (n.*276T>G) c.*203T>G (n.*203T>G) c.136T>G (p.Leu46Val) c.469T>G (p.Leu157Val) | COSMIC |
| 7 | g.117531005_117531007dup | CA260244 | CFTR | c.380_382dup (p.Leu127_Cys128insLeu) c.*277_*279dup (n.*277_*279dup) c.*204_*206dup (n.*204_*206dup) c.137_139dup (p.Leu46_Cys47insLeu) c.470_472dup (p.Leu157_Cys158insLeu) | ClinVar dbSNP |
| 7 | g.117531005T>A | CA368974536 | CFTR | c.380T>A (p.Leu127Ter) c.*277T>A (n.*277T>A) c.*204T>A (n.*204T>A) c.137T>A (p.Leu46Ter) c.470T>A (p.Leu157Ter) | |
| 7 | g.117531005T>C | CA368974534 | CFTR | c.380T>C (p.Leu127Ser) c.*277T>C (n.*277T>C) c.*204T>C (n.*204T>C) c.137T>C (p.Leu46Ser) c.470T>C (p.Leu157Ser) | |
| 7 | g.117531005T>G | CA327296 | CFTR | c.380T>G (p.Leu127Ter) c.*277T>G (n.*277T>G) c.*204T>G (n.*204T>G) c.137T>G (p.Leu46Ter) c.470T>G (p.Leu157Ter) | ClinVar dbSNP |
| 7 | g.117531005T= | CA1737359500 | CFTR | c.380T= (p.Leu127=) c.*277T= (n.*277T=) c.*204T= (n.*204T=) c.137T= (p.Leu46=) c.470T= (p.Leu157=) | |
| 7 | g.117531006A= | CA1737359504 | CFTR | c.381A= (p.Leu127=) c.*278A= (n.*278A=) c.*205A= (n.*205A=) c.138A= (p.Leu46=) c.471A= (p.Leu157=) | |
| 7 | g.117531006A>C | CA368974538 | CFTR | c.381A>C (p.Leu127Phe) c.*278A>C (n.*278A>C) c.*205A>C (n.*205A>C) c.138A>C (p.Leu46Phe) c.471A>C (p.Leu157Phe) | dbSNP |
| 7 | g.117531006A>G | CA457448658 | CFTR | c.381A>G (p.Leu127=) c.*278A>G (n.*278A>G) c.*205A>G (n.*205A>G) c.138A>G (p.Leu46=) c.471A>G (p.Leu157=) | ClinVar |
| 7 | g.117531006A>T | CA368974540 | CFTR | c.381A>T (p.Leu127Phe) c.*278A>T (n.*278A>T) c.*205A>T (n.*205A>T) c.138A>T (p.Leu46Phe) c.471A>T (p.Leu157Phe) | |
| 7 | g.117531007T>A | CA368974542 | CFTR | c.382T>A (p.Cys128Ser) c.*279T>A (n.*279T>A) c.*206T>A (n.*206T>A) c.139T>A (p.Cys47Ser) c.472T>A (p.Cys158Ser) | |
| 7 | g.117531007T>C | CA368974544 | CFTR | c.382T>C (p.Cys128Arg) c.*279T>C (n.*279T>C) c.*206T>C (n.*206T>C) c.139T>C (p.Cys47Arg) c.472T>C (p.Cys158Arg) | |
| 7 | g.117531007T>G | CA368974545 | CFTR | c.382T>G (p.Cys128Gly) c.*279T>G (n.*279T>G) c.*206T>G (n.*206T>G) c.139T>G (p.Cys47Gly) c.472T>G (p.Cys158Gly) | |
| 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 |