| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117540097_117540344delinsTAGAACAGAACTGAAACTGACTCGGAAGGCAGCCTATGTGAGATACTTCAATAGCTCAGCCTTCTTCTTCTCAGGGTTCTTTGTGGTGTTTTTATCTGTGCTTCCCTATGCACTAATCAAAGGAATCATCCTCCGGAAAATATTCACCACCATCTCATTCTGCATTGTTCTGCGCATGGCGGTCACTCGGCAATTTCCCTGGGCTGTACAAACATGGTATGACTCTCTTGGAGCAATAAACAAAATAC | CA1737331753 | CFTR | c.870-3_1114delinsTAGAACAGAACTGAAACTGACTCGGAAGGCAGCCTATGTGAGATACTTCAATAGCTCAGCCTTCTTCTTCTCAGGGTTCTTTGTGGTGTTTTTATCTGTGCTTCCCTATGCACTAATCAAAGGAATCATCCTCCGGAAAATATTCACCACCATCTCATTCTGCATTGTTCTGCGCATGGCGGTCACTCGGCAATTTCCCTGGGCTGTACAAACATGGTATGACTCTCTTGGAGCAATAAACAAAATAC c.*767-3_*1011delinsTAGAACAGAACTGAAACTGACTCGGAAGGCAGCCTATGTGAGATACTTCAATAGCTCAGCCTTCTTCTTCTCAGGGTTCTTTGTGGTGTTTTTATCTGTGCTTCCCTATGCACTAATCAAAGGAATCATCCTCCGGAAAATATTCACCACCATCTCATTCTGCATTGTTCTGCGCATGGCGGTCACTCGGCAATTTCCCTGGGCTGTACAAACATGGTATGACTCTCTTGGAGCAATAAACAAAATAC c.*694-3_*938delinsTAGAACAGAACTGAAACTGACTCGGAAGGCAGCCTATGTGAGATACTTCAATAGCTCAGCCTTCTTCTTCTCAGGGTTCTTTGTGGTGTTTTTATCTGTGCTTCCCTATGCACTAATCAAAGGAATCATCCTCCGGAAAATATTCACCACCATCTCATTCTGCATTGTTCTGCGCATGGCGGTCACTCGGCAATTTCCCTGGGCTGTACAAACATGGTATGACTCTCTTGGAGCAATAAACAAAATAC c.627-3_871delinsTAGAACAGAACTGAAACTGACTCGGAAGGCAGCCTATGTGAGATACTTCAATAGCTCAGCCTTCTTCTTCTCAGGGTTCTTTGTGGTGTTTTTATCTGTGCTTCCCTATGCACTAATCAAAGGAATCATCCTCCGGAAAATATTCACCACCATCTCATTCTGCATTGTTCTGCGCATGGCGGTCACTCGGCAATTTCCCTGGGCTGTACAAACATGGTATGACTCTCTTGGAGCAATAAACAAAATAC c.780-3_1024delinsTAGAACAGAACTGAAACTGACTCGGAAGGCAGCCTATGTGAGATACTTCAATAGCTCAGCCTTCTTCTTCTCAGGGTTCTTTGTGGTGTTTTTATCTGTGCTTCCCTATGCACTAATCAAAGGAATCATCCTCCGGAAAATATTCACCACCATCTCATTCTGCATTGTTCTGCGCATGGCGGTCACTCGGCAATTTCCCTGGGCTGTACAAACATGGTATGACTCTCTTGGAGCAATAAACAAAATAC c.960-3_1204delinsTAGAACAGAACTGAAACTGACTCGGAAGGCAGCCTATGTGAGATACTTCAATAGCTCAGCCTTCTTCTTCTCAGGGTTCTTTGTGGTGTTTTTATCTGTGCTTCCCTATGCACTAATCAAAGGAATCATCCTCCGGAAAATATTCACCACCATCTCATTCTGCATTGTTCTGCGCATGGCGGTCACTCGGCAATTTCCCTGGGCTGTACAAACATGGTATGACTCTCTTGGAGCAATAAACAAAATAC | |
| 7 | g.117540100_117540346del | CA913189992 | CFTR | c.870_1116del c.*767_*1013del c.*694_*940del c.627_873del c.780_1026del c.960_1206del | ClinVar dbSNP |
| 7 | g.117540133T>A | CA368978041 | CFTR | c.903T>A (p.Tyr301Ter) c.*800T>A (n.*800T>A) c.*727T>A (n.*727T>A) c.660T>A (p.Tyr220Ter) c.813T>A (p.Tyr271Ter) c.993T>A (p.Tyr331Ter) | |
| 7 | g.117540133T>C | CA457448588 | CFTR | c.903T>C (p.Tyr301=) c.*800T>C (n.*800T>C) c.*727T>C (n.*727T>C) c.660T>C (p.Tyr220=) c.813T>C (p.Tyr271=) c.993T>C (p.Tyr331=) | |
| 7 | g.117540133T>G | CA368978044 | CFTR | c.903T>G (p.Tyr301Ter) c.*800T>G (n.*800T>G) c.*727T>G (n.*727T>G) c.660T>G (p.Tyr220Ter) c.813T>G (p.Tyr271Ter) c.993T>G (p.Tyr331Ter) | |
| 7 | g.117540134G>A | CA368978048 | CFTR | c.904G>A (p.Val302Met) c.*801G>A (n.*801G>A) c.*728G>A (n.*728G>A) c.661G>A (p.Val221Met) c.814G>A (p.Val272Met) c.994G>A (p.Val332Met) | gnomAD v4 |
| 7 | g.117540134G>C | CA368978056 | CFTR | c.904G>C (p.Val302Leu) c.*801G>C (n.*801G>C) c.*728G>C (n.*728G>C) c.661G>C (p.Val221Leu) c.814G>C (p.Val272Leu) c.994G>C (p.Val332Leu) | |
| 7 | g.117540134G>T | CA368978053 | CFTR | c.904G>T (p.Val302Leu) c.*801G>T (n.*801G>T) c.*728G>T (n.*728G>T) c.661G>T (p.Val221Leu) c.814G>T (p.Val272Leu) c.994G>T (p.Val332Leu) | |
| 7 | g.117540135T>A | CA368978061 | CFTR | c.905T>A (p.Val302Glu) c.*802T>A (n.*802T>A) c.*729T>A (n.*729T>A) c.662T>A (p.Val221Glu) c.815T>A (p.Val272Glu) c.995T>A (p.Val332Glu) | ClinVar |
| 7 | g.117540135T>C | CA368978070 | CFTR | c.905T>C (p.Val302Ala) c.*802T>C (n.*802T>C) c.*729T>C (n.*729T>C) c.662T>C (p.Val221Ala) c.815T>C (p.Val272Ala) c.995T>C (p.Val332Ala) | ClinVar dbSNP |
| 7 | g.117540135T>G | CA368978073 | CFTR | c.905T>G (p.Val302Gly) c.*802T>G (n.*802T>G) c.*729T>G (n.*729T>G) c.662T>G (p.Val221Gly) c.815T>G (p.Val272Gly) c.995T>G (p.Val332Gly) | gnomAD v4 |
| 7 | g.117540135T= | CA1737331841 | CFTR | c.905T= (p.Val302=) c.*802T= (n.*802T=) c.*729T= (n.*729T=) c.662T= (p.Val221=) c.815T= (p.Val272=) c.995T= (p.Val332=) | |
| 7 | g.117540136G>A | CA457448591 | CFTR | c.906G>A (p.Val302=) c.*803G>A (n.*803G>A) c.*730G>A (n.*730G>A) c.663G>A (p.Val221=) c.816G>A (p.Val272=) c.996G>A (p.Val332=) | |
| 7 | g.117540136G>C | CA457448592 | CFTR | c.906G>C (p.Val302=) c.*803G>C (n.*803G>C) c.*730G>C (n.*730G>C) c.663G>C (p.Val221=) c.816G>C (p.Val272=) c.996G>C (p.Val332=) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117540136G>T | CA457448593 | CFTR | c.906G>T (p.Val302=) c.*803G>T (n.*803G>T) c.*730G>T (n.*730G>T) c.663G>T (p.Val221=) c.816G>T (p.Val272=) c.996G>T (p.Val332=) | |
| 7 | g.117540137A>C | CA457448594 | CFTR | c.907A>C (p.Arg303=) c.*804A>C (n.*804A>C) c.*731A>C (n.*731A>C) c.664A>C (p.Arg222=) c.817A>C (p.Arg273=) c.997A>C (p.Arg333=) | |
| 7 | g.117540137A>G | CA368978075 | CFTR | c.907A>G (p.Arg303Gly) c.*804A>G (n.*804A>G) c.*731A>G (n.*731A>G) c.664A>G (p.Arg222Gly) c.817A>G (p.Arg273Gly) c.997A>G (p.Arg333Gly) | |
| 7 | g.117540137A>T | CA368978082 | CFTR | c.907A>T (p.Arg303Ter) c.*804A>T (n.*804A>T) c.*731A>T (n.*731A>T) c.664A>T (p.Arg222Ter) c.817A>T (p.Arg273Ter) c.997A>T (p.Arg333Ter) | |
| 7 | g.117540138G>A | CA368978087 | CFTR | c.908G>A (p.Arg303Lys) c.*805G>A (n.*805G>A) c.*732G>A (n.*732G>A) c.665G>A (p.Arg222Lys) c.818G>A (p.Arg273Lys) c.998G>A (p.Arg333Lys) | |
| 7 | g.117540138G>C | CA368978090 | CFTR | c.908G>C (p.Arg303Thr) c.*805G>C (n.*805G>C) c.*732G>C (n.*732G>C) c.665G>C (p.Arg222Thr) c.818G>C (p.Arg273Thr) c.998G>C (p.Arg333Thr) | |
| 7 | g.117540138G>T | CA368978091 | CFTR | c.908G>T (p.Arg303Ile) c.*805G>T (n.*805G>T) c.*732G>T (n.*732G>T) c.665G>T (p.Arg222Ile) c.818G>T (p.Arg273Ile) c.998G>T (p.Arg333Ile) | gnomAD v4 |
| 7 | g.117540139A= | CA1737331842 | CFTR | c.909A= (p.Arg303=) c.*806A= (n.*806A=) c.*733A= (n.*733A=) c.666A= (p.Arg222=) c.819A= (p.Arg273=) c.999A= (p.Arg333=) | |
| 7 | g.117540139A>C | CA368978095 | CFTR | c.909A>C (p.Arg303Ser) c.*806A>C (n.*806A>C) c.*733A>C (n.*733A>C) c.666A>C (p.Arg222Ser) c.819A>C (p.Arg273Ser) c.999A>C (p.Arg333Ser) | |
| 7 | g.117540139A>G | CA457448597 | CFTR | c.909A>G (p.Arg303=) c.*806A>G (n.*806A>G) c.*733A>G (n.*733A>G) c.666A>G (p.Arg222=) c.819A>G (p.Arg273=) c.999A>G (p.Arg333=) | |
| 7 | g.117540139A>T | CA368978100 | CFTR | c.909A>T (p.Arg303Ser) c.*806A>T (n.*806A>T) c.*733A>T (n.*733A>T) c.666A>T (p.Arg222Ser) c.819A>T (p.Arg273Ser) c.999A>T (p.Arg333Ser) | |
| 7 | g.117540140T>A | CA368978112 | CFTR | c.910T>A (p.Tyr304Asn) c.*807T>A (n.*807T>A) c.*734T>A (n.*734T>A) c.667T>A (p.Tyr223Asn) c.820T>A (p.Tyr274Asn) c.1000T>A (p.Tyr334Asn) | |
| 7 | g.117540140T>C | CA368978107 | CFTR | c.910T>C (p.Tyr304His) c.*807T>C (n.*807T>C) c.*734T>C (n.*734T>C) c.667T>C (p.Tyr223His) c.820T>C (p.Tyr274His) c.1000T>C (p.Tyr334His) | |
| 7 | g.117540140T>G | CA368978104 | CFTR | c.910T>G (p.Tyr304Asp) c.*807T>G (n.*807T>G) c.*734T>G (n.*734T>G) c.667T>G (p.Tyr223Asp) c.820T>G (p.Tyr274Asp) c.1000T>G (p.Tyr334Asp) | |
| 7 | g.117540141_117540143dup | CA577678369 | CFTR | c.911_913dup (p.Tyr304_Phe305insTyr) c.*808_*810dup (n.*808_*810dup) c.*735_*737dup (n.*735_*737dup) c.668_670dup (p.Tyr223_Phe224insTyr) c.821_823dup (p.Tyr274_Phe275insTyr) c.1001_1003dup (p.Tyr334_Phe335insTyr) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117540141A= | CA1737331845 | CFTR | c.911A= (p.Tyr304=) c.*808A= (n.*808A=) c.*735A= (n.*735A=) c.668A= (p.Tyr223=) c.821A= (p.Tyr274=) c.1001A= (p.Tyr334=) | |
| 7 | g.117540141A>C | CA368978114 | CFTR | c.911A>C (p.Tyr304Ser) c.*808A>C (n.*808A>C) c.*735A>C (n.*735A>C) c.668A>C (p.Tyr223Ser) c.821A>C (p.Tyr274Ser) c.1001A>C (p.Tyr334Ser) | ClinVar dbSNP |
| 7 | g.117540141A>G | CA368978123 | CFTR | c.911A>G (p.Tyr304Cys) c.*808A>G (n.*808A>G) c.*735A>G (n.*735A>G) c.668A>G (p.Tyr223Cys) c.821A>G (p.Tyr274Cys) c.1001A>G (p.Tyr334Cys) | |
| 7 | g.117540141A>T | CA368978120 | CFTR | c.911A>T (p.Tyr304Phe) c.*808A>T (n.*808A>T) c.*735A>T (n.*735A>T) c.668A>T (p.Tyr223Phe) c.821A>T (p.Tyr274Phe) c.1001A>T (p.Tyr334Phe) | |
| 7 | g.117540142C>A | CA368978129 | CFTR | c.912C>A (p.Tyr304Ter) c.*809C>A (n.*809C>A) c.*736C>A (n.*736C>A) c.669C>A (p.Tyr223Ter) c.822C>A (p.Tyr274Ter) c.1002C>A (p.Tyr334Ter) | |
| 7 | g.117540142C= | CA1737331846 | CFTR | c.912C= (p.Tyr304=) c.*809C= (n.*809C=) c.*736C= (n.*736C=) c.669C= (p.Tyr223=) c.822C= (p.Tyr274=) c.1002C= (p.Tyr334=) | |
| 7 | g.117540142C>G | CA327687 | CFTR | c.912C>G (p.Tyr304Ter) c.*809C>G (n.*809C>G) c.*736C>G (n.*736C>G) c.669C>G (p.Tyr223Ter) c.822C>G (p.Tyr274Ter) c.1002C>G (p.Tyr334Ter) | ClinVar dbSNP |
| 7 | g.117540142C>T | CA4450862 | CFTR | c.912C>T (p.Tyr304=) c.*809C>T (n.*809C>T) c.*736C>T (n.*736C>T) c.669C>T (p.Tyr223=) c.822C>T (p.Tyr274=) c.1002C>T (p.Tyr334=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117540143T>A | CA368978138 | CFTR | c.913T>A (p.Phe305Ile) c.*810T>A (n.*810T>A) c.*737T>A (n.*737T>A) c.670T>A (p.Phe224Ile) c.823T>A (p.Phe275Ile) c.1003T>A (p.Phe335Ile) | |
| 7 | g.117540143T>C | CA368978139 | CFTR | c.913T>C (p.Phe305Leu) c.*810T>C (n.*810T>C) c.*737T>C (n.*737T>C) c.670T>C (p.Phe224Leu) c.823T>C (p.Phe275Leu) c.1003T>C (p.Phe335Leu) | |
| 7 | g.117540143T>G | CA327689 | CFTR | c.913T>G (p.Phe305Val) c.*810T>G (n.*810T>G) c.*737T>G (n.*737T>G) c.670T>G (p.Phe224Val) c.823T>G (p.Phe275Val) c.1003T>G (p.Phe335Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117540143T= | CA1737331852 | CFTR | c.913T= (p.Phe305=) c.*810T= (n.*810T=) c.*737T= (n.*737T=) c.670T= (p.Phe224=) c.823T= (p.Phe275=) c.1003T= (p.Phe335=) | |
| 7 | g.117540144T>A | CA368978150 | CFTR | c.914T>A (p.Phe305Tyr) c.*811T>A (n.*811T>A) c.*738T>A (n.*738T>A) c.671T>A (p.Phe224Tyr) c.824T>A (p.Phe275Tyr) c.1004T>A (p.Phe335Tyr) | |
| 7 | g.117540144T>C | CA368978148 | CFTR | c.914T>C (p.Phe305Ser) c.*811T>C (n.*811T>C) c.*738T>C (n.*738T>C) c.671T>C (p.Phe224Ser) c.824T>C (p.Phe275Ser) c.1004T>C (p.Phe335Ser) | |
| 7 | g.117540144T>G | CA368978146 | CFTR | c.914T>G (p.Phe305Cys) c.*811T>G (n.*811T>G) c.*738T>G (n.*738T>G) c.671T>G (p.Phe224Cys) c.824T>G (p.Phe275Cys) c.1004T>G (p.Phe335Cys) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117540144T= | CA1737331854 | CFTR | c.914T= (p.Phe305=) c.*811T= (n.*811T=) c.*738T= (n.*738T=) c.671T= (p.Phe224=) c.824T= (p.Phe275=) c.1004T= (p.Phe335=) | |
| 7 | g.117540145C>A | CA368978151 | CFTR | c.915C>A (p.Phe305Leu) c.*812C>A (n.*812C>A) c.*739C>A (n.*739C>A) c.672C>A (p.Phe224Leu) c.825C>A (p.Phe275Leu) c.1005C>A (p.Phe335Leu) | |
| 7 | g.117540145C= | CA1737331857 | CFTR | c.915C= (p.Phe305=) c.*812C= (n.*812C=) c.*739C= (n.*739C=) c.672C= (p.Phe224=) c.825C= (p.Phe275=) c.1005C= (p.Phe335=) | |
| 7 | g.117540145C>G | CA368978153 | CFTR | c.915C>G (p.Phe305Leu) c.*812C>G (n.*812C>G) c.*739C>G (n.*739C>G) c.672C>G (p.Phe224Leu) c.825C>G (p.Phe275Leu) c.1005C>G (p.Phe335Leu) | ClinVar |
| 7 | g.117540145C>T | CA164953477 | CFTR | c.915C>T (p.Phe305=) c.*812C>T (n.*812C>T) c.*739C>T (n.*739C>T) c.672C>T (p.Phe224=) c.825C>T (p.Phe275=) c.1005C>T (p.Phe335=) | dbSNP gnomAD v4 |
| 7 | g.117540145_117540146del | CA2580076442 | CFTR | c.915_916del (p.Phe305LeufsTer2) c.*812_*813del (n.*812_*813del) c.*739_*740del (n.*739_*740del) c.672_673del (p.Phe224LeufsTer2) c.825_826del (p.Phe275LeufsTer2) c.1005_1006del (p.Phe335LeufsTer2) | ClinVar |