| 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.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.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 |
| 7 | g.117540146A>C | CA368978158 | CFTR | c.916A>C (p.Asn306His) c.*813A>C (n.*813A>C) c.*740A>C (n.*740A>C) c.673A>C (p.Asn225His) c.826A>C (p.Asn276His) c.1006A>C (p.Asn336His) | |
| 7 | g.117540146A>G | CA368978161 | CFTR | c.916A>G (p.Asn306Asp) c.*813A>G (n.*813A>G) c.*740A>G (n.*740A>G) c.673A>G (p.Asn225Asp) c.826A>G (p.Asn276Asp) c.1006A>G (p.Asn336Asp) | |
| 7 | g.117540146A>T | CA368978162 | CFTR | c.916A>T (p.Asn306Tyr) c.*813A>T (n.*813A>T) c.*740A>T (n.*740A>T) c.673A>T (p.Asn225Tyr) c.826A>T (p.Asn276Tyr) c.1006A>T (p.Asn336Tyr) | gnomAD v4 |
| 7 | g.117540147A= | CA1737331858 | CFTR | c.917A= (p.Asn306=) c.*814A= (n.*814A=) c.*741A= (n.*741A=) c.674A= (p.Asn225=) c.827A= (p.Asn276=) c.1007A= (p.Asn336=) | |
| 7 | g.117540147A>C | CA368978169 | CFTR | c.917A>C (p.Asn306Thr) c.*814A>C (n.*814A>C) c.*741A>C (n.*741A>C) c.674A>C (p.Asn225Thr) c.827A>C (p.Asn276Thr) c.1007A>C (p.Asn336Thr) | |
| 7 | g.117540147A>G | CA4450863 | CFTR | c.917A>G (p.Asn306Ser) c.*814A>G (n.*814A>G) c.*741A>G (n.*741A>G) c.674A>G (p.Asn225Ser) c.827A>G (p.Asn276Ser) c.1007A>G (p.Asn336Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117540147A>T | CA368978171 | CFTR | c.917A>T (p.Asn306Ile) c.*814A>T (n.*814A>T) c.*741A>T (n.*741A>T) c.674A>T (p.Asn225Ile) c.827A>T (p.Asn276Ile) c.1007A>T (p.Asn336Ile) | |
| 7 | g.117540148T>A | CA368978176 | CFTR | c.918T>A (p.Asn306Lys) c.*815T>A (n.*815T>A) c.*742T>A (n.*742T>A) c.675T>A (p.Asn225Lys) c.828T>A (p.Asn276Lys) c.1008T>A (p.Asn336Lys) | |
| 7 | g.117540148T>C | CA164953478 | CFTR | c.918T>C (p.Asn306=) c.*815T>C (n.*815T>C) c.*742T>C (n.*742T>C) c.675T>C (p.Asn225=) c.828T>C (p.Asn276=) c.1008T>C (p.Asn336=) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117540148T>G | CA368978179 | CFTR | c.918T>G (p.Asn306Lys) c.*815T>G (n.*815T>G) c.*742T>G (n.*742T>G) c.675T>G (p.Asn225Lys) c.828T>G (p.Asn276Lys) c.1008T>G (p.Asn336Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117540148T= | CA1737331862 | CFTR | c.918T= (p.Asn306=) c.*815T= (n.*815T=) c.*742T= (n.*742T=) c.675T= (p.Asn225=) c.828T= (p.Asn276=) c.1008T= (p.Asn336=) | |
| 7 | g.117540149A>C | CA368978182 | CFTR | c.919A>C (p.Ser307Arg) c.*816A>C (n.*816A>C) c.*743A>C (n.*743A>C) c.676A>C (p.Ser226Arg) c.829A>C (p.Ser277Arg) c.1009A>C (p.Ser337Arg) | |
| 7 | g.117540149A>G | CA368978186 | CFTR | c.919A>G (p.Ser307Gly) c.*816A>G (n.*816A>G) c.*743A>G (n.*743A>G) c.676A>G (p.Ser226Gly) c.829A>G (p.Ser277Gly) c.1009A>G (p.Ser337Gly) | |
| 7 | g.117540149A>T | CA368978192 | CFTR | c.919A>T (p.Ser307Cys) c.*816A>T (n.*816A>T) c.*743A>T (n.*743A>T) c.676A>T (p.Ser226Cys) c.829A>T (p.Ser277Cys) c.1009A>T (p.Ser337Cys) | |
| 7 | g.117540152_117540156del | CA2573141557 | CFTR | c.922_926del (p.Ser308LeufsTer?) c.*819_*823del (n.*819_*823del) c.*746_*750del (n.*746_*750del) c.679_683del (p.Ser227LeufsTer?) c.832_836del (p.Ser278LeufsTer?) c.1012_1016del (p.Ser338LeufsTer?) | ClinVar dbSNP |
| 7 | g.117540150G>A | CA327691 | CFTR | c.920G>A (p.Ser307Asn) c.*817G>A (n.*817G>A) c.*744G>A (n.*744G>A) c.677G>A (p.Ser226Asn) c.830G>A (p.Ser277Asn) c.1010G>A (p.Ser337Asn) | ClinVar dbSNP |
| 7 | g.117540150G>C | CA368978204 | CFTR | c.920G>C (p.Ser307Thr) c.*817G>C (n.*817G>C) c.*744G>C (n.*744G>C) c.677G>C (p.Ser226Thr) c.830G>C (p.Ser277Thr) c.1010G>C (p.Ser337Thr) | |
| 7 | g.117540150G= | CA1737331863 | CFTR | c.920G= (p.Ser307=) c.*817G= (n.*817G=) c.*744G= (n.*744G=) c.677G= (p.Ser226=) c.830G= (p.Ser277=) c.1010G= (p.Ser337=) | |
| 7 | g.117540150G>T | CA368978207 | CFTR | c.920G>T (p.Ser307Ile) c.*817G>T (n.*817G>T) c.*744G>T (n.*744G>T) c.677G>T (p.Ser226Ile) c.830G>T (p.Ser277Ile) c.1010G>T (p.Ser337Ile) | ClinVar |
| 7 | g.117540151C>A | CA368978211 | CFTR | c.921C>A (p.Ser307Arg) c.*818C>A (n.*818C>A) c.*745C>A (n.*745C>A) c.678C>A (p.Ser226Arg) c.831C>A (p.Ser277Arg) c.1011C>A (p.Ser337Arg) | |
| 7 | g.117540151C= | CA1737331866 | CFTR | c.921C= (p.Ser307=) c.*818C= (n.*818C=) c.*745C= (n.*745C=) c.678C= (p.Ser226=) c.831C= (p.Ser277=) c.1011C= (p.Ser337=) | |
| 7 | g.117540151C>G | CA368978215 | CFTR | c.921C>G (p.Ser307Arg) c.*818C>G (n.*818C>G) c.*745C>G (n.*745C>G) c.678C>G (p.Ser226Arg) c.831C>G (p.Ser277Arg) c.1011C>G (p.Ser337Arg) | gnomAD v4 |
| 7 | g.117540151C>T | CA457448603 | CFTR | c.921C>T (p.Ser307=) c.*818C>T (n.*818C>T) c.*745C>T (n.*745C>T) c.678C>T (p.Ser226=) c.831C>T (p.Ser277=) c.1011C>T (p.Ser337=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117540152T>A | CA368978221 | CFTR | c.922T>A (p.Ser308Thr) c.*819T>A (n.*819T>A) c.*746T>A (n.*746T>A) c.679T>A (p.Ser227Thr) c.832T>A (p.Ser278Thr) c.1012T>A (p.Ser338Thr) | |
| 7 | g.117540152T>C | CA368978223 | CFTR | c.922T>C (p.Ser308Pro) c.*819T>C (n.*819T>C) c.*746T>C (n.*746T>C) c.679T>C (p.Ser227Pro) c.832T>C (p.Ser278Pro) c.1012T>C (p.Ser338Pro) | |
| 7 | g.117540152T>G | CA368978222 | CFTR | c.922T>G (p.Ser308Ala) c.*819T>G (n.*819T>G) c.*746T>G (n.*746T>G) c.679T>G (p.Ser227Ala) c.832T>G (p.Ser278Ala) c.1012T>G (p.Ser338Ala) | |
| 7 | g.117540153C>A | CA368978225 | CFTR | c.923C>A (p.Ser308Ter) c.*820C>A (n.*820C>A) c.*747C>A (n.*747C>A) c.680C>A (p.Ser227Ter) c.833C>A (p.Ser278Ter) c.1013C>A (p.Ser338Ter) | |
| 7 | g.117540153C= | CA1737331868 | CFTR | c.923C= (p.Ser308=) c.*820C= (n.*820C=) c.*747C= (n.*747C=) c.680C= (p.Ser227=) c.833C= (p.Ser278=) c.1013C= (p.Ser338=) | |
| 7 | g.117540153C>G | CA368978226 | CFTR | c.923C>G (p.Ser308Ter) c.*820C>G (n.*820C>G) c.*747C>G (n.*747C>G) c.680C>G (p.Ser227Ter) c.833C>G (p.Ser278Ter) c.1013C>G (p.Ser338Ter) | |
| 7 | g.117540153C>T | CA368978228 | CFTR | c.923C>T (p.Ser308Leu) c.*820C>T (n.*820C>T) c.*747C>T (n.*747C>T) c.680C>T (p.Ser227Leu) c.833C>T (p.Ser278Leu) c.1013C>T (p.Ser338Leu) | dbSNP gnomAD v3 gnomAD v4 |