Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.117540097_117540344delinsTAGAACAGAACTGAAACTGACTCGGAAGGCAGCCTATGTGAGATACTTCAATAGCTCAGCCTTCTTCTTCTCAGGGTTCTTTGTGGTGTTTTTATCTGTGCTTCCCTATGCACTAATCAAAGGAATCATCCTCCGGAAAATATTCACCACCATCTCATTCTGCATTGTTCTGCGCATGGCGGTCACTCGGCAATTTCCCTGGGCTGTACAAACATGGTATGACTCTCTTGGAGCAATAAACAAAATACCA1737331753CFTRc.870-3_1114delinsTAGAACAGAACTGAAACTGACTCGGAAGGCAGCCTATGTGAGATACTTCAATAGCTCAGCCTTCTTCTTCTCAGGGTTCTTTGTGGTGTTTTTATCTGTGCTTCCCTATGCACTAATCAAAGGAATCATCCTCCGGAAAATATTCACCACCATCTCATTCTGCATTGTTCTGCGCATGGCGGTCACTCGGCAATTTCCCTGGGCTGTACAAACATGGTATGACTCTCTTGGAGCAATAAACAAAATAC
c.*767-3_*1011delinsTAGAACAGAACTGAAACTGACTCGGAAGGCAGCCTATGTGAGATACTTCAATAGCTCAGCCTTCTTCTTCTCAGGGTTCTTTGTGGTGTTTTTATCTGTGCTTCCCTATGCACTAATCAAAGGAATCATCCTCCGGAAAATATTCACCACCATCTCATTCTGCATTGTTCTGCGCATGGCGGTCACTCGGCAATTTCCCTGGGCTGTACAAACATGGTATGACTCTCTTGGAGCAATAAACAAAATAC
n.870-3_1114delinsTAGAACAGAACTGAAACTGACTCGGAAGGCAGCCTATGTGAGATACTTCAATAGCTCAGCCTTCTTCTTCTCAGGGTTCTTTGTGGTGTTTTTATCTGTGCTTCCCTATGCACTAATCAAAGGAATCATCCTCCGGAAAATATTCACCACCATCTCATTCTGCATTGTTCTGCGCATGGCGGTCACTCGGCAATTTCCCTGGGCTGTACAAACATGGTATGACTCTCTTGGAGCAATAAACAAAATAC
c.627-3_871delinsTAGAACAGAACTGAAACTGACTCGGAAGGCAGCCTATGTGAGATACTTCAATAGCTCAGCCTTCTTCTTCTCAGGGTTCTTTGTGGTGTTTTTATCTGTGCTTCCCTATGCACTAATCAAAGGAATCATCCTCCGGAAAATATTCACCACCATCTCATTCTGCATTGTTCTGCGCATGGCGGTCACTCGGCAATTTCCCTGGGCTGTACAAACATGGTATGACTCTCTTGGAGCAATAAACAAAATAC
n.780-3_1024delinsTAGAACAGAACTGAAACTGACTCGGAAGGCAGCCTATGTGAGATACTTCAATAGCTCAGCCTTCTTCTTCTCAGGGTTCTTTGTGGTGTTTTTATCTGTGCTTCCCTATGCACTAATCAAAGGAATCATCCTCCGGAAAATATTCACCACCATCTCATTCTGCATTGTTCTGCGCATGGCGGTCACTCGGCAATTTCCCTGGGCTGTACAAACATGGTATGACTCTCTTGGAGCAATAAACAAAATAC
c.960-3_1204delinsTAGAACAGAACTGAAACTGACTCGGAAGGCAGCCTATGTGAGATACTTCAATAGCTCAGCCTTCTTCTTCTCAGGGTTCTTTGTGGTGTTTTTATCTGTGCTTCCCTATGCACTAATCAAAGGAATCATCCTCCGGAAAATATTCACCACCATCTCATTCTGCATTGTTCTGCGCATGGCGGTCACTCGGCAATTTCCCTGGGCTGTACAAACATGGTATGACTCTCTTGGAGCAATAAACAAAATAC
7g.117540100_117540346delCA913189992CFTRc.870_1116del
c.*767_*1013del
n.870_1116del
c.627_873del
n.780_1026del
c.960_1206del
ClinVar dbSNP
7g.117540130C>ACA164953439CFTRc.900C>A (p.Ala300=)
c.*797C>A (p.=)
n.900C>A (p.Ala300=)
c.657C>A (p.Ala219=)
n.810C>A (p.Ala270=)
c.990C>A (p.Ala330=)
ClinVar dbSNP gnomAD
7g.117540130C=CA1737331834CFTRc.900C= (p.Ala300=)
c.*797C= (p.=)
n.900C= (p.Ala300=)
c.657C= (p.Ala219=)
n.810C= (p.Ala270=)
c.990C= (p.Ala330=)
7g.117540130C>GCA457448584CFTRc.900C>G (p.Ala300=)
c.*797C>G (p.=)
n.900C>G (p.Ala300=)
c.657C>G (p.Ala219=)
n.810C>G (p.Ala270=)
c.990C>G (p.Ala330=)
7g.117540130C>TCA457448585CFTRc.900C>T (p.Ala300=)
c.*797C>T (p.=)
n.900C>T (p.Ala300=)
c.657C>T (p.Ala219=)
n.810C>T (p.Ala270=)
c.990C>T (p.Ala330=)
7g.117540131T>ACA368978027CFTRc.901T>A (p.Tyr301Asn)
c.*798T>A (p.=)
n.901T>A (p.Tyr301Asn)
c.658T>A (p.Tyr220Asn)
n.811T>A (p.Tyr271Asn)
c.991T>A (p.Tyr331Asn)
7g.117540131T>CCA368978024CFTRc.901T>C (p.Tyr301His)
c.*798T>C (p.=)
n.901T>C (p.Tyr301His)
c.658T>C (p.Tyr220His)
n.811T>C (p.Tyr271His)
c.991T>C (p.Tyr331His)
7g.117540131T>GCA368978025CFTRc.901T>G (p.Tyr301Asp)
c.*798T>G (p.=)
n.901T>G (p.Tyr301Asp)
c.658T>G (p.Tyr220Asp)
n.811T>G (p.Tyr271Asp)
c.991T>G (p.Tyr331Asp)
7g.117540132A=CA1737331838CFTRc.902A= (p.Tyr301=)
c.*799A= (p.=)
n.902A= (p.Tyr301=)
c.659A= (p.Tyr220=)
n.812A= (p.Tyr271=)
c.992A= (p.Tyr331=)
7g.117540132A>CCA368978030CFTRc.902A>C (p.Tyr301Ser)
c.*799A>C (p.=)
n.902A>C (p.Tyr301Ser)
c.659A>C (p.Tyr220Ser)
n.812A>C (p.Tyr271Ser)
c.992A>C (p.Tyr331Ser)
7g.117540132A>GCA247544CFTRc.902A>G (p.Tyr301Cys)
c.*799A>G (p.=)
n.902A>G (p.Tyr301Cys)
c.659A>G (p.Tyr220Cys)
n.812A>G (p.Tyr271Cys)
c.992A>G (p.Tyr331Cys)
ClinVar dbSNP ExAC gnomAD
7g.117540132A>TCA368978033CFTRc.902A>T (p.Tyr301Phe)
c.*799A>T (p.=)
n.902A>T (p.Tyr301Phe)
c.659A>T (p.Tyr220Phe)
n.812A>T (p.Tyr271Phe)
c.992A>T (p.Tyr331Phe)
7g.117540133T>ACA368978041CFTRc.903T>A (p.Tyr301Ter)
c.*800T>A (p.=)
n.903T>A (p.Tyr301Ter)
c.660T>A (p.Tyr220Ter)
n.813T>A (p.Tyr271Ter)
c.993T>A (p.Tyr331Ter)
7g.117540133T>CCA457448588CFTRc.903T>C (p.Tyr301=)
c.*800T>C (p.=)
n.903T>C (p.Tyr301=)
c.660T>C (p.Tyr220=)
n.813T>C (p.Tyr271=)
c.993T>C (p.Tyr331=)
7g.117540133T>GCA368978044CFTRc.903T>G (p.Tyr301Ter)
c.*800T>G (p.=)
n.903T>G (p.Tyr301Ter)
c.660T>G (p.Tyr220Ter)
n.813T>G (p.Tyr271Ter)
c.993T>G (p.Tyr331Ter)
7g.117540134G>ACA368978048CFTRc.904G>A (p.Val302Met)
c.*801G>A (p.=)
n.904G>A (p.Val302Met)
c.661G>A (p.Val221Met)
n.814G>A (p.Val272Met)
c.994G>A (p.Val332Met)
7g.117540134G>CCA368978056CFTRc.904G>C (p.Val302Leu)
c.*801G>C (p.=)
n.904G>C (p.Val302Leu)
c.661G>C (p.Val221Leu)
n.814G>C (p.Val272Leu)
c.994G>C (p.Val332Leu)
7g.117540134G>TCA368978053CFTRc.904G>T (p.Val302Leu)
c.*801G>T (p.=)
n.904G>T (p.Val302Leu)
c.661G>T (p.Val221Leu)
n.814G>T (p.Val272Leu)
c.994G>T (p.Val332Leu)
7g.117540135T>ACA368978061CFTRc.905T>A (p.Val302Glu)
c.*802T>A (p.=)
n.905T>A (p.Val302Glu)
c.662T>A (p.Val221Glu)
n.815T>A (p.Val272Glu)
c.995T>A (p.Val332Glu)
7g.117540135T>CCA368978070CFTRc.905T>C (p.Val302Ala)
c.*802T>C (p.=)
n.905T>C (p.Val302Ala)
c.662T>C (p.Val221Ala)
n.815T>C (p.Val272Ala)
c.995T>C (p.Val332Ala)
7g.117540135T>GCA368978073CFTRc.905T>G (p.Val302Gly)
c.*802T>G (p.=)
n.905T>G (p.Val302Gly)
c.662T>G (p.Val221Gly)
n.815T>G (p.Val272Gly)
c.995T>G (p.Val332Gly)
7g.117540135T=CA1737331841CFTRc.905T= (p.Val302=)
c.*802T= (p.=)
n.905T= (p.Val302=)
c.662T= (p.Val221=)
n.815T= (p.Val272=)
c.995T= (p.Val332=)
7g.117540136G>ACA457448591CFTRc.906G>A (p.Val302=)
c.*803G>A (p.=)
n.906G>A (p.Val302=)
c.663G>A (p.Val221=)
n.816G>A (p.Val272=)
c.996G>A (p.Val332=)
7g.117540136G>CCA457448592CFTRc.906G>C (p.Val302=)
c.*803G>C (p.=)
n.906G>C (p.Val302=)
c.663G>C (p.Val221=)
n.816G>C (p.Val272=)
c.996G>C (p.Val332=)
ClinVar
7g.117540136G>TCA457448593CFTRc.906G>T (p.Val302=)
c.*803G>T (p.=)
n.906G>T (p.Val302=)
c.663G>T (p.Val221=)
n.816G>T (p.Val272=)
c.996G>T (p.Val332=)
7g.117540137A>CCA457448594CFTRc.907A>C (p.Arg303=)
c.*804A>C (p.=)
n.907A>C (p.Arg303=)
c.664A>C (p.Arg222=)
n.817A>C (p.Arg273=)
c.997A>C (p.Arg333=)
7g.117540137A>GCA368978075CFTRc.907A>G (p.Arg303Gly)
c.*804A>G (p.=)
n.907A>G (p.Arg303Gly)
c.664A>G (p.Arg222Gly)
n.817A>G (p.Arg273Gly)
c.997A>G (p.Arg333Gly)
7g.117540137A>TCA368978082CFTRc.907A>T (p.Arg303Ter)
c.*804A>T (p.=)
n.907A>T (p.Arg303Ter)
c.664A>T (p.Arg222Ter)
n.817A>T (p.Arg273Ter)
c.997A>T (p.Arg333Ter)
7g.117540138G>ACA368978087CFTRc.908G>A (p.Arg303Lys)
c.*805G>A (p.=)
n.908G>A (p.Arg303Lys)
c.665G>A (p.Arg222Lys)
n.818G>A (p.Arg273Lys)
c.998G>A (p.Arg333Lys)
7g.117540138G>CCA368978090CFTRc.908G>C (p.Arg303Thr)
c.*805G>C (p.=)
n.908G>C (p.Arg303Thr)
c.665G>C (p.Arg222Thr)
n.818G>C (p.Arg273Thr)
c.998G>C (p.Arg333Thr)
7g.117540138G>TCA368978091CFTRc.908G>T (p.Arg303Ile)
c.*805G>T (p.=)
n.908G>T (p.Arg303Ile)
c.665G>T (p.Arg222Ile)
n.818G>T (p.Arg273Ile)
c.998G>T (p.Arg333Ile)
7g.117540139A=CA1737331842CFTRc.909A= (p.Arg303=)
c.*806A= (p.=)
n.909A= (p.Arg303=)
c.666A= (p.Arg222=)
n.819A= (p.Arg273=)
c.999A= (p.Arg333=)
7g.117540139A>CCA368978095CFTRc.909A>C (p.Arg303Ser)
c.*806A>C (p.=)
n.909A>C (p.Arg303Ser)
c.666A>C (p.Arg222Ser)
n.819A>C (p.Arg273Ser)
c.999A>C (p.Arg333Ser)
7g.117540139A>GCA457448597CFTRc.909A>G (p.Arg303=)
c.*806A>G (p.=)
n.909A>G (p.Arg303=)
c.666A>G (p.Arg222=)
n.819A>G (p.Arg273=)
c.999A>G (p.Arg333=)
7g.117540139A>TCA368978100CFTRc.909A>T (p.Arg303Ser)
c.*806A>T (p.=)
n.909A>T (p.Arg303Ser)
c.666A>T (p.Arg222Ser)
n.819A>T (p.Arg273Ser)
c.999A>T (p.Arg333Ser)
7g.117540140T>ACA368978112CFTRc.910T>A (p.Tyr304Asn)
c.*807T>A (p.=)
n.910T>A (p.Tyr304Asn)
c.667T>A (p.Tyr223Asn)
n.820T>A (p.Tyr274Asn)
c.1000T>A (p.Tyr334Asn)
7g.117540140T>CCA368978107CFTRc.910T>C (p.Tyr304His)
c.*807T>C (p.=)
n.910T>C (p.Tyr304His)
c.667T>C (p.Tyr223His)
n.820T>C (p.Tyr274His)
c.1000T>C (p.Tyr334His)
7g.117540140T>GCA368978104CFTRc.910T>G (p.Tyr304Asp)
c.*807T>G (p.=)
n.910T>G (p.Tyr304Asp)
c.667T>G (p.Tyr223Asp)
n.820T>G (p.Tyr274Asp)
c.1000T>G (p.Tyr334Asp)
7g.117540141_117540143dupCA577678369CFTRc.911_913dup (p.Tyr304_Phe305insTyr)
c.*808_*810dup (p.=)
n.911_913dup (p.Tyr304_Phe305insTyr)
c.668_670dup (p.Tyr223_Phe224insTyr)
n.821_823dup (p.Tyr274_Phe275insTyr)
c.1001_1003dup (p.Tyr334_Phe335insTyr)
dbSNP gnomAD
7g.117540141A=CA1737331845CFTRc.911A= (p.Tyr304=)
c.*808A= (p.=)
n.911A= (p.Tyr304=)
c.668A= (p.Tyr223=)
n.821A= (p.Tyr274=)
c.1001A= (p.Tyr334=)
7g.117540141A>CCA368978114CFTRc.911A>C (p.Tyr304Ser)
c.*808A>C (p.=)
n.911A>C (p.Tyr304Ser)
c.668A>C (p.Tyr223Ser)
n.821A>C (p.Tyr274Ser)
c.1001A>C (p.Tyr334Ser)
7g.117540141A>GCA368978123CFTRc.911A>G (p.Tyr304Cys)
c.*808A>G (p.=)
n.911A>G (p.Tyr304Cys)
c.668A>G (p.Tyr223Cys)
n.821A>G (p.Tyr274Cys)
c.1001A>G (p.Tyr334Cys)
7g.117540141A>TCA368978120CFTRc.911A>T (p.Tyr304Phe)
c.*808A>T (p.=)
n.911A>T (p.Tyr304Phe)
c.668A>T (p.Tyr223Phe)
n.821A>T (p.Tyr274Phe)
c.1001A>T (p.Tyr334Phe)
7g.117540142C>ACA368978129CFTRc.912C>A (p.Tyr304Ter)
c.*809C>A (p.=)
n.912C>A (p.Tyr304Ter)
c.669C>A (p.Tyr223Ter)
n.822C>A (p.Tyr274Ter)
c.1002C>A (p.Tyr334Ter)
7g.117540142C=CA1737331846CFTRc.912C= (p.Tyr304=)
c.*809C= (p.=)
n.912C= (p.Tyr304=)
c.669C= (p.Tyr223=)
n.822C= (p.Tyr274=)
c.1002C= (p.Tyr334=)
7g.117540142C>GCA327687CFTRc.912C>G (p.Tyr304Ter)
c.*809C>G (p.=)
n.912C>G (p.Tyr304Ter)
c.669C>G (p.Tyr223Ter)
n.822C>G (p.Tyr274Ter)
c.1002C>G (p.Tyr334Ter)
ClinVar dbSNP
7g.117540142C>TCA4450862CFTRc.912C>T (p.Tyr304=)
c.*809C>T (p.=)
n.912C>T (p.Tyr304=)
c.669C>T (p.Tyr223=)
n.822C>T (p.Tyr274=)
c.1002C>T (p.Tyr334=)
dbSNP ExAC gnomAD
7g.117540143T>ACA368978138CFTRc.913T>A (p.Phe305Ile)
c.*810T>A (p.=)
n.913T>A (p.Phe305Ile)
c.670T>A (p.Phe224Ile)
n.823T>A (p.Phe275Ile)
c.1003T>A (p.Phe335Ile)
7g.117540143T>CCA368978139CFTRc.913T>C (p.Phe305Leu)
c.*810T>C (p.=)
n.913T>C (p.Phe305Leu)
c.670T>C (p.Phe224Leu)
n.823T>C (p.Phe275Leu)
c.1003T>C (p.Phe335Leu)

Number of alleles fetched