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.117540230C>ACA457448745CFTRc.1000C>A (p.Arg334=)
c.*897C>A (p.=)
n.1000C>A (p.Arg334=)
c.757C>A (p.Arg253=)
n.910C>A (p.Arg304=)
c.1090C>A (p.Arg364=)
7g.117540230C=CA1737332096CFTRc.1000C= (p.Arg334=)
c.*897C= (p.=)
n.1000C= (p.Arg334=)
c.757C= (p.Arg253=)
n.910C= (p.Arg304=)
c.1090C= (p.Arg364=)
7g.117540230C>GCA368978733CFTRc.1000C>G (p.Arg334Gly)
c.*897C>G (p.=)
n.1000C>G (p.Arg334Gly)
c.757C>G (p.Arg253Gly)
n.910C>G (p.Arg304Gly)
c.1090C>G (p.Arg364Gly)
7g.117540230C>TCA340644CFTRc.1000C>T (p.Arg334Trp)
c.*897C>T (p.=)
n.1000C>T (p.Arg334Trp)
c.757C>T (p.Arg253Trp)
n.910C>T (p.Arg304Trp)
c.1090C>T (p.Arg364Trp)
ClinVar dbSNP ExAC gnomAD COSMIC
7g.117540231G>ACA326358CFTRc.1001G>A (p.Arg334Gln)
c.*898G>A (p.=)
n.1001G>A (p.Arg334Gln)
c.758G>A (p.Arg253Gln)
n.911G>A (p.Arg304Gln)
c.1091G>A (p.Arg364Gln)
ClinVar dbSNP ExAC gnomAD COSMIC
7g.117540231G>CCA368978737CFTRc.1001G>C (p.Arg334Pro)
c.*898G>C (p.=)
n.1001G>C (p.Arg334Pro)
c.758G>C (p.Arg253Pro)
n.911G>C (p.Arg304Pro)
c.1091G>C (p.Arg364Pro)
7g.117540231G=CA1737332108CFTRc.1001G= (p.Arg334=)
c.*898G= (p.=)
n.1001G= (p.Arg334=)
c.758G= (p.Arg253=)
n.911G= (p.Arg304=)
c.1091G= (p.Arg364=)
7g.117540231G>TCA326360CFTRc.1001G>T (p.Arg334Leu)
c.*898G>T (p.=)
n.1001G>T (p.Arg334Leu)
c.758G>T (p.Arg253Leu)
n.911G>T (p.Arg304Leu)
c.1091G>T (p.Arg364Leu)
ClinVar dbSNP gnomAD
7g.117540232G>ACA164953708CFTRc.1002G>A (p.Arg334=)
c.*899G>A (p.=)
n.1002G>A (p.Arg334=)
c.759G>A (p.Arg253=)
n.912G>A (p.Arg304=)
c.1092G>A (p.Arg364=)
dbSNP
7g.117540232G>CCA457448746CFTRc.1002G>C (p.Arg334=)
c.*899G>C (p.=)
n.1002G>C (p.Arg334=)
c.759G>C (p.Arg253=)
n.912G>C (p.Arg304=)
c.1092G>C (p.Arg364=)
7g.117540232G=CA1737332123CFTRc.1002G= (p.Arg334=)
c.*899G= (p.=)
n.1002G= (p.Arg334=)
c.759G= (p.Arg253=)
n.912G= (p.Arg304=)
c.1092G= (p.Arg364=)
7g.117540232G>TCA457448747CFTRc.1002G>T (p.Arg334=)
c.*899G>T (p.=)
n.1002G>T (p.Arg334=)
c.759G>T (p.Arg253=)
n.912G>T (p.Arg304=)
c.1092G>T (p.Arg364=)
7g.117540233A=CA1737332131CFTRc.1003A= (p.Lys335=)
c.*900A= (p.=)
n.1003A= (p.Lys335=)
c.760A= (p.Lys254=)
n.913A= (p.Lys305=)
c.1093A= (p.Lys365=)
7g.117540233A>CCA368978740CFTRc.1003A>C (p.Lys335Gln)
c.*900A>C (p.=)
n.1003A>C (p.Lys335Gln)
c.760A>C (p.Lys254Gln)
n.913A>C (p.Lys305Gln)
c.1093A>C (p.Lys365Gln)
7g.117540233A>GCA368978742CFTRc.1003A>G (p.Lys335Glu)
c.*900A>G (p.=)
n.1003A>G (p.Lys335Glu)
c.760A>G (p.Lys254Glu)
n.913A>G (p.Lys305Glu)
c.1093A>G (p.Lys365Glu)
gnomAD
7g.117540233A>TCA368978744CFTRc.1003A>T (p.Lys335Ter)
c.*900A>T (p.=)
n.1003A>T (p.Lys335Ter)
c.760A>T (p.Lys254Ter)
n.913A>T (p.Lys305Ter)
c.1093A>T (p.Lys365Ter)
7g.117540234A>CCA368978745CFTRc.1004A>C (p.Lys335Thr)
c.*901A>C (p.=)
n.1004A>C (p.Lys335Thr)
c.761A>C (p.Lys254Thr)
n.914A>C (p.Lys305Thr)
c.1094A>C (p.Lys365Thr)
7g.117540234A>GCA368978747CFTRc.1004A>G (p.Lys335Arg)
c.*901A>G (p.=)
n.1004A>G (p.Lys335Arg)
c.761A>G (p.Lys254Arg)
n.914A>G (p.Lys305Arg)
c.1094A>G (p.Lys365Arg)
7g.117540234A>TCA368978748CFTRc.1004A>T (p.Lys335Ile)
c.*901A>T (p.=)
n.1004A>T (p.Lys335Ile)
c.761A>T (p.Lys254Ile)
n.914A>T (p.Lys305Ile)
c.1094A>T (p.Lys365Ile)
COSMIC
7g.117540235A=CA1737332135CFTRc.1005A= (p.Lys335=)
c.*902A= (p.=)
n.1005A= (p.Lys335=)
c.762A= (p.Lys254=)
n.915A= (p.Lys305=)
c.1095A= (p.Lys365=)
7g.117540235A>CCA368978751CFTRc.1005A>C (p.Lys335Asn)
c.*902A>C (p.=)
n.1005A>C (p.Lys335Asn)
c.762A>C (p.Lys254Asn)
n.915A>C (p.Lys305Asn)
c.1095A>C (p.Lys365Asn)
7g.117540235A>GCA457448748CFTRc.1005A>G (p.Lys335=)
c.*902A>G (p.=)
n.1005A>G (p.Lys335=)
c.762A>G (p.Lys254=)
n.915A>G (p.Lys305=)
c.1095A>G (p.Lys365=)
7g.117540235A>TCA368978750CFTRc.1005A>T (p.Lys335Asn)
c.*902A>T (p.=)
n.1005A>T (p.Lys335Asn)
c.762A>T (p.Lys254Asn)
n.915A>T (p.Lys305Asn)
c.1095A>T (p.Lys365Asn)
7g.117540236A=CA1737332152CFTRc.1006A= (p.Ile336=)
c.*903A= (p.=)
n.1006A= (p.Ile336=)
c.763A= (p.Ile255=)
n.916A= (p.Ile306=)
c.1096A= (p.Ile366=)
7g.117540236A>CCA368978752CFTRc.1006A>C (p.Ile336Leu)
c.*903A>C (p.=)
n.1006A>C (p.Ile336Leu)
c.763A>C (p.Ile255Leu)
n.916A>C (p.Ile306Leu)
c.1096A>C (p.Ile366Leu)
7g.117540236A>GCA368978754CFTRc.1006A>G (p.Ile336Val)
c.*903A>G (p.=)
n.1006A>G (p.Ile336Val)
c.763A>G (p.Ile255Val)
n.916A>G (p.Ile306Val)
c.1096A>G (p.Ile366Val)
7g.117540236A>TCA368978756CFTRc.1006A>T (p.Ile336Leu)
c.*903A>T (p.=)
n.1006A>T (p.Ile336Leu)
c.763A>T (p.Ile255Leu)
n.916A>T (p.Ile306Leu)
c.1096A>T (p.Ile366Leu)
7g.117540238_117540249dupCA326363CFTRc.1008_1019dup (p.Ile340_Ser341insPheThrThrIle)
c.*905_*916dup (p.=)
n.1008_1019dup (p.Ile340_Ser341insPheThrThrIle)
c.765_776dup (p.Ile259_Ser260insPheThrThrIle)
n.918_929dup (p.Ile310_Ser311insPheThrThrIle)
c.1098_1109dup (p.Ile370_Ser371insPheThrThrIle)
ClinVar dbSNP
7g.117540236_117540237insGCA326362CFTRc.1006_1007insG (p.Ile336SerfsTer28)
c.*903_*904insG (p.=)
n.1006_1007insG (p.Ile336SerfsTer28)
c.763_764insG (p.Ile255SerfsTer28)
n.916_917insG (p.Ile306SerfsTer28)
c.1096_1097insG (p.Ile366SerfsTer28)
ClinVar dbSNP gnomAD
7g.117540237T>ACA345302CFTRc.1007T>A (p.Ile336Lys)
c.*904T>A (p.=)
n.1007T>A (p.Ile336Lys)
c.764T>A (p.Ile255Lys)
n.917T>A (p.Ile306Lys)
c.1097T>A (p.Ile366Lys)
ClinVar dbSNP gnomAD
7g.117540237T>CCA4450876CFTRc.1007T>C (p.Ile336Thr)
c.*904T>C (p.=)
n.1007T>C (p.Ile336Thr)
c.764T>C (p.Ile255Thr)
n.917T>C (p.Ile306Thr)
c.1097T>C (p.Ile366Thr)
dbSNP ExAC gnomAD
7g.117540237T>GCA368978760CFTRc.1007T>G (p.Ile336Arg)
c.*904T>G (p.=)
n.1007T>G (p.Ile336Arg)
c.764T>G (p.Ile255Arg)
n.917T>G (p.Ile306Arg)
c.1097T>G (p.Ile366Arg)
7g.117540237T=CA1737332163CFTRc.1007T= (p.Ile336=)
c.*904T= (p.=)
n.1007T= (p.Ile336=)
c.764T= (p.Ile255=)
n.917T= (p.Ile306=)
c.1097T= (p.Ile366=)
7g.117540238A>CCA457448749CFTRc.1008A>C (p.Ile336=)
c.*905A>C (p.=)
n.1008A>C (p.Ile336=)
c.765A>C (p.Ile255=)
n.918A>C (p.Ile306=)
c.1098A>C (p.Ile366=)
7g.117540238A>GCA368978762CFTRc.1008A>G (p.Ile336Met)
c.*905A>G (p.=)
n.1008A>G (p.Ile336Met)
c.765A>G (p.Ile255Met)
n.918A>G (p.Ile306Met)
c.1098A>G (p.Ile366Met)
7g.117540238A>TCA457448750CFTRc.1008A>T (p.Ile336=)
c.*905A>T (p.=)
n.1008A>T (p.Ile336=)
c.765A>T (p.Ile255=)
n.918A>T (p.Ile306=)
c.1098A>T (p.Ile366=)
7g.117540239T>ACA368978763CFTRc.1009T>A (p.Phe337Ile)
c.*906T>A (p.=)
n.1009T>A (p.Phe337Ile)
c.766T>A (p.Phe256Ile)
n.919T>A (p.Phe307Ile)
c.1099T>A (p.Phe367Ile)
7g.117540239T>CCA368978764CFTRc.1009T>C (p.Phe337Leu)
c.*906T>C (p.=)
n.1009T>C (p.Phe337Leu)
c.766T>C (p.Phe256Leu)
n.919T>C (p.Phe307Leu)
c.1099T>C (p.Phe367Leu)
ClinVar
7g.117540239T>GCA4450877CFTRc.1009T>G (p.Phe337Val)
c.*906T>G (p.=)
n.1009T>G (p.Phe337Val)
c.766T>G (p.Phe256Val)
n.919T>G (p.Phe307Val)
c.1099T>G (p.Phe367Val)
dbSNP ExAC gnomAD
7g.117540239T=CA1737332173CFTRc.1009T= (p.Phe337=)
c.*906T= (p.=)
n.1009T= (p.Phe337=)
c.766T= (p.Phe256=)
n.919T= (p.Phe307=)
c.1099T= (p.Phe367=)
7g.117540240T>ACA368978769CFTRc.1010T>A (p.Phe337Tyr)
c.*907T>A (p.=)
n.1010T>A (p.Phe337Tyr)
c.767T>A (p.Phe256Tyr)
n.920T>A (p.Phe307Tyr)
c.1100T>A (p.Phe367Tyr)
7g.117540240T>CCA368978770CFTRc.1010T>C (p.Phe337Ser)
c.*907T>C (p.=)
n.1010T>C (p.Phe337Ser)
c.767T>C (p.Phe256Ser)
n.920T>C (p.Phe307Ser)
c.1100T>C (p.Phe367Ser)
7g.117540240T>GCA368978767CFTRc.1010T>G (p.Phe337Cys)
c.*907T>G (p.=)
n.1010T>G (p.Phe337Cys)
c.767T>G (p.Phe256Cys)
n.920T>G (p.Phe307Cys)
c.1100T>G (p.Phe367Cys)
7g.117540241C>ACA368978773CFTRc.1011C>A (p.Phe337Leu)
c.*908C>A (p.=)
n.1011C>A (p.Phe337Leu)
c.768C>A (p.Phe256Leu)
n.921C>A (p.Phe307Leu)
c.1101C>A (p.Phe367Leu)
COSMIC
7g.117540241C=CA1737332178CFTRc.1011C= (p.Phe337=)
c.*908C= (p.=)
n.1011C= (p.Phe337=)
c.768C= (p.Phe256=)
n.921C= (p.Phe307=)
c.1101C= (p.Phe367=)
7g.117540241C>GCA368978771CFTRc.1011C>G (p.Phe337Leu)
c.*908C>G (p.=)
n.1011C>G (p.Phe337Leu)
c.768C>G (p.Phe256Leu)
n.921C>G (p.Phe307Leu)
c.1101C>G (p.Phe367Leu)
7g.117540241C>TCA457448751CFTRc.1011C>T (p.Phe337=)
c.*908C>T (p.=)
n.1011C>T (p.Phe337=)
c.768C>T (p.Phe256=)
n.921C>T (p.Phe307=)
c.1101C>T (p.Phe367=)
7g.117540242A=CA1737332183CFTRc.1012A= (p.Thr338=)
c.*909A= (p.=)
n.1012A= (p.Thr338=)
c.769A= (p.Thr257=)
n.922A= (p.Thr308=)
c.1102A= (p.Thr368=)

Number of alleles fetched