| 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.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.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 |
| 7 | g.117540154A= | CA1737331870 | CFTR | c.924A= (p.Ser308=) c.*821A= (n.*821A=) c.*748A= (n.*748A=) c.681A= (p.Ser227=) c.834A= (p.Ser278=) c.1014A= (p.Ser338=) | |
| 7 | g.117540154A>C | CA457448606 | CFTR | c.924A>C (p.Ser308=) c.*821A>C (n.*821A>C) c.*748A>C (n.*748A>C) c.681A>C (p.Ser227=) c.834A>C (p.Ser278=) c.1014A>C (p.Ser338=) | |
| 7 | g.117540154A>G | CA457448607 | CFTR | c.924A>G (p.Ser308=) c.*821A>G (n.*821A>G) c.*748A>G (n.*748A>G) c.681A>G (p.Ser227=) c.834A>G (p.Ser278=) c.1014A>G (p.Ser338=) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117540154A>T | CA457448608 | CFTR | c.924A>T (p.Ser308=) c.*821A>T (n.*821A>T) c.*748A>T (n.*748A>T) c.681A>T (p.Ser227=) c.834A>T (p.Ser278=) c.1014A>T (p.Ser338=) | |
| 7 | g.117540155G>A | CA4450864 | CFTR | c.925G>A (p.Ala309Thr) c.*822G>A (n.*822G>A) c.*749G>A (n.*749G>A) c.682G>A (p.Ala228Thr) c.835G>A (p.Ala279Thr) c.1015G>A (p.Ala339Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117540155G>C | CA368978245 | CFTR | c.925G>C (p.Ala309Pro) c.*822G>C (n.*822G>C) c.*749G>C (n.*749G>C) c.682G>C (p.Ala228Pro) c.835G>C (p.Ala279Pro) c.1015G>C (p.Ala339Pro) | |
| 7 | g.117540155G= | CA1737331871 | CFTR | c.925G= (p.Ala309=) c.*822G= (n.*822G=) c.*749G= (n.*749G=) c.682G= (p.Ala228=) c.835G= (p.Ala279=) c.1015G= (p.Ala339=) | |
| 7 | g.117540155G>T | CA368978246 | CFTR | c.925G>T (p.Ala309Ser) c.*822G>T (n.*822G>T) c.*749G>T (n.*749G>T) c.682G>T (p.Ala228Ser) c.835G>T (p.Ala279Ser) c.1015G>T (p.Ala339Ser) | |
| 7 | g.117540156C>A | CA368978263 | CFTR | c.926C>A (p.Ala309Asp) c.*823C>A (n.*823C>A) c.*750C>A (n.*750C>A) c.683C>A (p.Ala228Asp) c.836C>A (p.Ala279Asp) c.1016C>A (p.Ala339Asp) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117540156C= | CA1737331878 | CFTR | c.926C= (p.Ala309=) c.*823C= (n.*823C=) c.*750C= (n.*750C=) c.683C= (p.Ala228=) c.836C= (p.Ala279=) c.1016C= (p.Ala339=) | |
| 7 | g.117540156C>G | CA327692 | CFTR | c.926C>G (p.Ala309Gly) c.*823C>G (n.*823C>G) c.*750C>G (n.*750C>G) c.683C>G (p.Ala228Gly) c.836C>G (p.Ala279Gly) c.1016C>G (p.Ala339Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117540156C>T | CA368978259 | CFTR | c.926C>T (p.Ala309Val) c.*823C>T (n.*823C>T) c.*750C>T (n.*750C>T) c.683C>T (p.Ala228Val) c.836C>T (p.Ala279Val) c.1016C>T (p.Ala339Val) | ClinVar dbSNP |
| 7 | g.117540157del | CA2684618158 | CFTR | c.927del (p.Phe310SerfsTer18) c.*824del (n.*824del) c.*751del (n.*751del) c.684del (p.Phe229SerfsTer18) c.837del (p.Phe280SerfsTer18) c.1017del (p.Phe340SerfsTer18) | gnomAD v4 |
| 7 | g.117540156_117540159delinsCCTT | CA1737331876 | CFTR | c.926_929delinsCCTT (p.Ala309=) c.*823_*826delinsCCTT (n.*823_*826delinsCCTT) c.*750_*753delinsCCTT (n.*750_*753delinsCCTT) c.683_686delinsCCTT (p.Ala228=) c.836_839delinsCCTT (p.Ala279=) c.1016_1019delinsCCTT (p.Ala339=) | |
| 7 | g.117540157C>A | CA164953503 | CFTR | c.927C>A (p.Ala309=) c.*824C>A (n.*824C>A) c.*751C>A (n.*751C>A) c.684C>A (p.Ala228=) c.837C>A (p.Ala279=) c.1017C>A (p.Ala339=) | ClinVar dbSNP |
| 7 | g.117540157C= | CA1737331884 | CFTR | c.927C= (p.Ala309=) c.*824C= (n.*824C=) c.*751C= (n.*751C=) c.684C= (p.Ala228=) c.837C= (p.Ala279=) c.1017C= (p.Ala339=) | |
| 7 | g.117540157C>G | CA4450865 | CFTR | c.927C>G (p.Ala309=) c.*824C>G (n.*824C>G) c.*751C>G (n.*751C>G) c.684C>G (p.Ala228=) c.837C>G (p.Ala279=) c.1017C>G (p.Ala339=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 7 | g.117540157C>T | CA4450866 | CFTR | c.927C>T (p.Ala309=) c.*824C>T (n.*824C>T) c.*751C>T (n.*751C>T) c.684C>T (p.Ala228=) c.837C>T (p.Ala279=) c.1017C>T (p.Ala339=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117540165_117540167dup | CA1737331881 | CFTR | c.935_937dup (p.Phe312_Ser313insPhe) c.*832_*834dup (n.*832_*834dup) c.*759_*761dup (n.*759_*761dup) c.692_694dup (p.Phe231_Ser232insPhe) c.845_847dup (p.Phe282_Ser283insPhe) c.1025_1027dup (p.Phe342_Ser343insPhe) | dbSNP |
| 7 | g.117540165_117540167del | CA221037 | CFTR | c.935_937del (p.Phe312del) c.*832_*834del (n.*832_*834del) c.*759_*761del (n.*759_*761del) c.692_694del (p.Phe231del) c.845_847del (p.Phe282del) c.1025_1027del (p.Phe342del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117540158T>A | CA368978289 | CFTR | c.928T>A (p.Phe310Ile) c.*825T>A (n.*825T>A) c.*752T>A (n.*752T>A) c.685T>A (p.Phe229Ile) c.838T>A (p.Phe280Ile) c.1018T>A (p.Phe340Ile) | |
| 7 | g.117540158T>C | CA368978296 | CFTR | c.928T>C (p.Phe310Leu) c.*825T>C (n.*825T>C) c.*752T>C (n.*752T>C) c.685T>C (p.Phe229Leu) c.838T>C (p.Phe280Leu) c.1018T>C (p.Phe340Leu) | |
| 7 | g.117540158T>G | CA368978293 | CFTR | c.928T>G (p.Phe310Val) c.*825T>G (n.*825T>G) c.*752T>G (n.*752T>G) c.685T>G (p.Phe229Val) c.838T>G (p.Phe280Val) c.1018T>G (p.Phe340Val) | |
| 7 | g.117540159T>A | CA368978299 | CFTR | c.929T>A (p.Phe310Tyr) c.*826T>A (n.*826T>A) c.*753T>A (n.*753T>A) c.686T>A (p.Phe229Tyr) c.839T>A (p.Phe280Tyr) c.1019T>A (p.Phe340Tyr) | |
| 7 | g.117540159T>C | CA368978303 | CFTR | c.929T>C (p.Phe310Ser) c.*826T>C (n.*826T>C) c.*753T>C (n.*753T>C) c.686T>C (p.Phe229Ser) c.839T>C (p.Phe280Ser) c.1019T>C (p.Phe340Ser) | |
| 7 | g.117540159T>G | CA368978305 | CFTR | c.929T>G (p.Phe310Cys) c.*826T>G (n.*826T>G) c.*753T>G (n.*753T>G) c.686T>G (p.Phe229Cys) c.839T>G (p.Phe280Cys) c.1019T>G (p.Phe340Cys) | gnomAD v4 |
| 7 | g.117540159_117540160delinsTC | CA1737331887 | CFTR | c.929_930delinsTC (p.Phe310=) c.*826_*827delinsTC (n.*826_*827delinsTC) c.*753_*754delinsTC (n.*753_*754delinsTC) c.686_687delinsTC (p.Phe229=) c.839_840delinsTC (p.Phe280=) c.1019_1020delinsTC (p.Phe340=) | |
| 7 | g.117540160del | CA915945466 | CFTR | c.930del (p.Phe311SerfsTer17) c.*827del (n.*827del) c.*754del (n.*754del) c.687del (p.Phe230SerfsTer17) c.840del (p.Phe281SerfsTer17) c.1020del (p.Phe341SerfsTer17) | ClinVar dbSNP |
| 7 | g.117540160C>A | CA368978306 | CFTR | c.930C>A (p.Phe310Leu) c.*827C>A (n.*827C>A) c.*754C>A (n.*754C>A) c.687C>A (p.Phe229Leu) c.840C>A (p.Phe280Leu) c.1020C>A (p.Phe340Leu) | gnomAD v4 |
| 7 | g.117540160C= | CA1737331893 | CFTR | c.930C= (p.Phe310=) c.*827C= (n.*827C=) c.*754C= (n.*754C=) c.687C= (p.Phe229=) c.840C= (p.Phe280=) c.1020C= (p.Phe340=) | |
| 7 | g.117540160C>G | CA368978310 | CFTR | c.930C>G (p.Phe310Leu) c.*827C>G (n.*827C>G) c.*754C>G (n.*754C>G) c.687C>G (p.Phe229Leu) c.840C>G (p.Phe280Leu) c.1020C>G (p.Phe340Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117540160C>T | CA457448611 | CFTR | c.930C>T (p.Phe310=) c.*827C>T (n.*827C>T) c.*754C>T (n.*754C>T) c.687C>T (p.Phe229=) c.840C>T (p.Phe280=) c.1020C>T (p.Phe340=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 7 | g.117540161T>A | CA368978312 | CFTR | c.931T>A (p.Phe311Ile) c.*828T>A (n.*828T>A) c.*755T>A (n.*755T>A) c.688T>A (p.Phe230Ile) c.841T>A (p.Phe281Ile) c.1021T>A (p.Phe341Ile) | |
| 7 | g.117540161T>C | CA368978315 | CFTR | c.931T>C (p.Phe311Leu) c.*828T>C (n.*828T>C) c.*755T>C (n.*755T>C) c.688T>C (p.Phe230Leu) c.841T>C (p.Phe281Leu) c.1021T>C (p.Phe341Leu) | ClinVar dbSNP |
| 7 | g.117540161T>G | CA368978318 | CFTR | c.931T>G (p.Phe311Val) c.*828T>G (n.*828T>G) c.*755T>G (n.*755T>G) c.688T>G (p.Phe230Val) c.841T>G (p.Phe281Val) c.1021T>G (p.Phe341Val) | ClinVar |
| 7 | g.117540162T>A | CA368978325 | CFTR | c.932T>A (p.Phe311Tyr) c.*829T>A (n.*829T>A) c.*756T>A (n.*756T>A) c.689T>A (p.Phe230Tyr) c.842T>A (p.Phe281Tyr) c.1022T>A (p.Phe341Tyr) |