Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.117527502_117531824del | CA2580076333 | CFTR | c.274-3397_489+710del c.*171-3397_*386+710del c.*98-3397_*313+710del c.31-3397_246+710del c.364-3397_579+710del | ClinVar |
7 | g.117530896_117531112delinsTAGGAAGTCACCAAAGCAGTACAGCCTCTCTTACTGGGAAGAATCATAGCTTCCTATGACCCGGATAACAAGGAGGAACGCTCTATCGCGATTTATCTAGGCATAGGCTTATGCCTTCTCTTTATTGTGAGGACACTGCTCCTACACCCAGCCATTTTTGGCCTTCATCACATTGGAATGCAGATGAGAATAGCTATGTTTAGTTTGATTTATAAGA | CA1737359079 | CFTR | c.274-3_487delinsTAGGAAGTCACCAAAGCAGTACAGCCTCTCTTACTGGGAAGAATCATAGCTTCCTATGACCCGGATAACAAGGAGGAACGCTCTATCGCGATTTATCTAGGCATAGGCTTATGCCTTCTCTTTATTGTGAGGACACTGCTCCTACACCCAGCCATTTTTGGCCTTCATCACATTGGAATGCAGATGAGAATAGCTATGTTTAGTTTGATTTATAAGA c.*171-3_*384delinsTAGGAAGTCACCAAAGCAGTACAGCCTCTCTTACTGGGAAGAATCATAGCTTCCTATGACCCGGATAACAAGGAGGAACGCTCTATCGCGATTTATCTAGGCATAGGCTTATGCCTTCTCTTTATTGTGAGGACACTGCTCCTACACCCAGCCATTTTTGGCCTTCATCACATTGGAATGCAGATGAGAATAGCTATGTTTAGTTTGATTTATAAGA c.*98-3_*311delinsTAGGAAGTCACCAAAGCAGTACAGCCTCTCTTACTGGGAAGAATCATAGCTTCCTATGACCCGGATAACAAGGAGGAACGCTCTATCGCGATTTATCTAGGCATAGGCTTATGCCTTCTCTTTATTGTGAGGACACTGCTCCTACACCCAGCCATTTTTGGCCTTCATCACATTGGAATGCAGATGAGAATAGCTATGTTTAGTTTGATTTATAAGA c.31-3_244delinsTAGGAAGTCACCAAAGCAGTACAGCCTCTCTTACTGGGAAGAATCATAGCTTCCTATGACCCGGATAACAAGGAGGAACGCTCTATCGCGATTTATCTAGGCATAGGCTTATGCCTTCTCTTTATTGTGAGGACACTGCTCCTACACCCAGCCATTTTTGGCCTTCATCACATTGGAATGCAGATGAGAATAGCTATGTTTAGTTTGATTTATAAGA c.364-3_577delinsTAGGAAGTCACCAAAGCAGTACAGCCTCTCTTACTGGGAAGAATCATAGCTTCCTATGACCCGGATAACAAGGAGGAACGCTCTATCGCGATTTATCTAGGCATAGGCTTATGCCTTCTCTTTATTGTGAGGACACTGCTCCTACACCCAGCCATTTTTGGCCTTCATCACATTGGAATGCAGATGAGAATAGCTATGTTTAGTTTGATTTATAAGA | |
7 | g.117530900_117531115del | CA913189986 | CFTR | c.275_489+1del c.*172_*386+1del c.*99_*313+1del c.32_246+1del c.365_579+1del | ClinVar dbSNP |
7 | g.117530900_117534366del | CA913189987 | CFTR | c.275_579+1del c.*172_*476+1del c.*99_*403+1del c.32_336+1del c.275_490-882del c.365_669+1del | ClinVar |
7 | g.117531033_117531034delinsGC | CA1737359529 | CFTR | c.408_409delinsGC (p.Leu136=) c.*305_*306delinsGC (n.*305_*306delinsGC) c.*232_*233delinsGC (n.*232_*233delinsGC) c.165_166delinsGC (p.Leu55=) c.498_499delinsGC (p.Leu166=) | |
7 | g.117531033_117531037delinsGCTCC | CA1737359530 | CFTR | c.408_412delinsGCTCC (p.Leu136=) c.*305_*309delinsGCTCC (n.*305_*309delinsGCTCC) c.*232_*236delinsGCTCC (n.*232_*236delinsGCTCC) c.165_169delinsGCTCC (p.Leu55=) c.498_502delinsGCTCC (p.Leu166=) | |
7 | g.117531034del | CA327397 | CFTR | c.409del (p.Leu137SerfsTer16) c.*306del (n.*306del) c.*233del (n.*233del) c.166del (p.Leu56SerfsTer16) c.499del (p.Leu167SerfsTer16) | ClinVar dbSNP |
7 | g.117531034C>A | CA368974700 | CFTR | c.409C>A (p.Leu137Ile) c.*306C>A (n.*306C>A) c.*233C>A (n.*233C>A) c.166C>A (p.Leu56Ile) c.499C>A (p.Leu167Ile) | |
7 | g.117531034C>G | CA368974698 | CFTR | c.409C>G (p.Leu137Val) c.*306C>G (n.*306C>G) c.*233C>G (n.*233C>G) c.166C>G (p.Leu56Val) c.499C>G (p.Leu167Val) | |
7 | g.117531034C>T | CA368974701 | CFTR | c.409C>T (p.Leu137Phe) c.*306C>T (n.*306C>T) c.*233C>T (n.*233C>T) c.166C>T (p.Leu56Phe) c.499C>T (p.Leu167Phe) | gnomAD v4 COSMIC |
7 | g.117531034_117531037del | CA327396 | CFTR | c.409_412del (p.Leu137TyrfsTer15) c.*306_*309del (n.*306_*309del) c.*233_*236del (n.*233_*236del) c.166_169del (p.Leu56TyrfsTer15) c.499_502del (p.Leu167TyrfsTer15) | ClinVar dbSNP gnomAD v4 |
7 | g.117531034_117531041delinsCTCCTACA | CA1737359531 | CFTR | c.409_416delinsCTCCTACA (p.Leu137=) c.*306_*313delinsCTCCTACA (n.*306_*313delinsCTCCTACA) c.*233_*240delinsCTCCTACA (n.*233_*240delinsCTCCTACA) c.166_173delinsCTCCTACA (p.Leu56=) c.499_506delinsCTCCTACA (p.Leu167=) | |
7 | g.117531035T>A | CA327400 | CFTR | c.410T>A (p.Leu137His) c.*307T>A (n.*307T>A) c.*234T>A (n.*234T>A) c.167T>A (p.Leu56His) c.500T>A (p.Leu167His) | ClinVar dbSNP gnomAD v4 |
7 | g.117531035T>C | CA164943766 | CFTR | c.410T>C (p.Leu137Pro) c.*307T>C (n.*307T>C) c.*234T>C (n.*234T>C) c.167T>C (p.Leu56Pro) c.500T>C (p.Leu167Pro) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.117531035T>G | CA327402 | CFTR | c.410T>G (p.Leu137Arg) c.*307T>G (n.*307T>G) c.*234T>G (n.*234T>G) c.167T>G (p.Leu56Arg) c.500T>G (p.Leu167Arg) | dbSNP |
7 | g.117531035T= | CA1737359532 | CFTR | c.410T= (p.Leu137=) c.*307T= (n.*307T=) c.*234T= (n.*234T=) c.167T= (p.Leu56=) c.500T= (p.Leu167=) | |
7 | g.117531035_117531041del | CA915945472 | CFTR | c.410_416del (p.Leu137ProfsTer14) c.*307_*313del (n.*307_*313del) c.*234_*240del (n.*234_*240del) c.167_173del (p.Leu56ProfsTer14) c.500_506del (p.Leu167ProfsTer14) | ClinVar dbSNP |
7 | g.117531036C>A | CA457448687 | CFTR | c.411C>A (p.Leu137=) c.*308C>A (n.*308C>A) c.*235C>A (n.*235C>A) c.168C>A (p.Leu56=) c.501C>A (p.Leu167=) | |
7 | g.117531036C= | CA1737359533 | CFTR | c.411C= (p.Leu137=) c.*308C= (n.*308C=) c.*235C= (n.*235C=) c.168C= (p.Leu56=) c.501C= (p.Leu167=) | |
7 | g.117531036C>G | CA457448688 | CFTR | c.411C>G (p.Leu137=) c.*308C>G (n.*308C>G) c.*235C>G (n.*235C>G) c.168C>G (p.Leu56=) c.501C>G (p.Leu167=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117531036C>T | CA457448689 | CFTR | c.411C>T (p.Leu137=) c.*308C>T (n.*308C>T) c.*235C>T (n.*235C>T) c.168C>T (p.Leu56=) c.501C>T (p.Leu167=) | ClinVar gnomAD v4 |
7 | g.117531037C>A | CA368974717 | CFTR | c.412C>A (p.Leu138Ile) c.*309C>A (n.*309C>A) c.*236C>A (n.*236C>A) c.169C>A (p.Leu57Ile) c.502C>A (p.Leu168Ile) | |
7 | g.117531037C= | CA1737359534 | CFTR | c.412C= (p.Leu138=) c.*309C= (n.*309C=) c.*236C= (n.*236C=) c.169C= (p.Leu57=) c.502C= (p.Leu168=) | |
7 | g.117531037C>G | CA368974718 | CFTR | c.412C>G (p.Leu138Val) c.*309C>G (n.*309C>G) c.*236C>G (n.*236C>G) c.169C>G (p.Leu57Val) c.502C>G (p.Leu168Val) | |
7 | g.117531037C>T | CA457448690 | CFTR | c.412C>T (p.Leu138=) c.*309C>T (n.*309C>T) c.*236C>T (n.*236C>T) c.169C>T (p.Leu57=) c.502C>T (p.Leu168=) | |
7 | g.117531038_117531040dup | CA327427 | CFTR | c.413_415dup (p.Leu138_His139insLeu) c.*310_*312dup (n.*310_*312dup) c.*237_*239dup (n.*237_*239dup) c.170_172dup (p.Leu57_His58insLeu) c.503_505dup (p.Leu168_His169insLeu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117531037_117531038insACT | CA327416 | CFTR | c.412_413insACT (p.Leu137_Leu138insHis) c.*309_*310insACT (n.*309_*310insACT) c.*236_*237insACT (n.*236_*237insACT) c.169_170insACT (p.Leu56_Leu57insHis) c.502_503insACT (p.Leu167_Leu168insHis) | ClinVar dbSNP |
7 | g.117531038T>A | CA368974724 | CFTR | c.413T>A (p.Leu138Gln) c.*310T>A (n.*310T>A) c.*237T>A (n.*237T>A) c.170T>A (p.Leu57Gln) c.503T>A (p.Leu168Gln) | |
7 | g.117531038T>C | CA164943773 | CFTR | c.413T>C (p.Leu138Pro) c.*310T>C (n.*310T>C) c.*237T>C (n.*237T>C) c.170T>C (p.Leu57Pro) c.503T>C (p.Leu168Pro) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117531038T>G | CA368974721 | CFTR | c.413T>G (p.Leu138Arg) c.*310T>G (n.*310T>G) c.*237T>G (n.*237T>G) c.170T>G (p.Leu57Arg) c.503T>G (p.Leu168Arg) | gnomAD v4 |
7 | g.117531038T= | CA1737359539 | CFTR | c.413T= (p.Leu138=) c.*310T= (n.*310T=) c.*237T= (n.*237T=) c.170T= (p.Leu57=) c.503T= (p.Leu168=) | |
7 | g.117531039A>C | CA457448693 | CFTR | c.414A>C (p.Leu138=) c.*311A>C (n.*311A>C) c.*238A>C (n.*238A>C) c.171A>C (p.Leu57=) c.504A>C (p.Leu168=) | |
7 | g.117531039A>G | CA457448691 | CFTR | c.414A>G (p.Leu138=) c.*311A>G (n.*311A>G) c.*238A>G (n.*238A>G) c.171A>G (p.Leu57=) c.504A>G (p.Leu168=) | |
7 | g.117531039A>T | CA457448692 | CFTR | c.414A>T (p.Leu138=) c.*311A>T (n.*311A>T) c.*238A>T (n.*238A>T) c.171A>T (p.Leu57=) c.504A>T (p.Leu168=) | |
7 | g.117531040C>A | CA368974727 | CFTR | c.415C>A (p.His139Asn) c.*312C>A (n.*312C>A) c.*239C>A (n.*239C>A) c.172C>A (p.His58Asn) c.505C>A (p.His169Asn) | |
7 | g.117531040C= | CA1737359545 | CFTR | c.415C= (p.His139=) c.*312C= (n.*312C=) c.*239C= (n.*239C=) c.172C= (p.His58=) c.505C= (p.His169=) | |
7 | g.117531040C>G | CA368974729 | CFTR | c.415C>G (p.His139Asp) c.*312C>G (n.*312C>G) c.*239C>G (n.*239C>G) c.172C>G (p.His58Asp) c.505C>G (p.His169Asp) | gnomAD v4 |
7 | g.117531040C>T | CA368974732 | CFTR | c.415C>T (p.His139Tyr) c.*312C>T (n.*312C>T) c.*239C>T (n.*239C>T) c.172C>T (p.His58Tyr) c.505C>T (p.His169Tyr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.117531040dup | CA2684617327 | CFTR | c.415dup (p.His139ProfsTer20) c.*312dup (n.*312dup) c.*239dup (n.*239dup) c.172dup (p.His58ProfsTer20) c.505dup (p.His169ProfsTer20) | gnomAD v4 |
7 | g.117531040_117531041insGA | CA327429 | CFTR | c.415_416insGA (p.His139ArgfsTer15) c.*312_*313insGA (n.*312_*313insGA) c.*239_*240insGA (n.*239_*240insGA) c.172_173insGA (p.His58ArgfsTer15) c.505_506insGA (p.His169ArgfsTer15) | dbSNP |
7 | g.117531040_117531041insTA | CA2695208297 | CFTR | c.415_416insTA (p.His139LeufsTer15) c.*312_*313insTA (n.*312_*313insTA) c.*239_*240insTA (n.*239_*240insTA) c.172_173insTA (p.His58LeufsTer15) c.505_506insTA (p.His169LeufsTer15) | |
7 | g.117531041A= | CA1737359552 | CFTR | c.416A= (p.His139=) c.*313A= (n.*313A=) c.*240A= (n.*240A=) c.173A= (p.His58=) c.506A= (p.His169=) | |
7 | g.117531041A>C | CA368974738 | CFTR | c.416A>C (p.His139Pro) c.*313A>C (n.*313A>C) c.*240A>C (n.*240A>C) c.173A>C (p.His58Pro) c.506A>C (p.His169Pro) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.117531041A>G | CA327434 | CFTR | c.416A>G (p.His139Arg) c.*313A>G (n.*313A>G) c.*240A>G (n.*240A>G) c.173A>G (p.His58Arg) c.506A>G (p.His169Arg) | ClinVar dbSNP |
7 | g.117531041A>T | CA327435 | CFTR | c.416A>T (p.His139Leu) c.*313A>T (n.*313A>T) c.*240A>T (n.*240A>T) c.173A>T (p.His58Leu) c.506A>T (p.His169Leu) | ClinVar dbSNP |
7 | g.117531042C>A | CA368974741 | CFTR | c.417C>A (p.His139Gln) c.*314C>A (n.*314C>A) c.*241C>A (n.*241C>A) c.174C>A (p.His58Gln) c.507C>A (p.His169Gln) | |
7 | g.117531042C= | CA1737359565 | CFTR | c.417C= (p.His139=) c.*314C= (n.*314C=) c.*241C= (n.*241C=) c.174C= (p.His58=) c.507C= (p.His169=) | |
7 | g.117531042C>G | CA368974745 | CFTR | c.417C>G (p.His139Gln) c.*314C>G (n.*314C>G) c.*241C>G (n.*241C>G) c.174C>G (p.His58Gln) c.507C>G (p.His169Gln) | |
7 | g.117531042C>T | CA4450719 | CFTR | c.417C>T (p.His139=) c.*314C>T (n.*314C>T) c.*241C>T (n.*241C>T) c.174C>T (p.His58=) c.507C>T (p.His169=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117531043C>A | CA368974750 | CFTR | c.418C>A (p.Pro140Thr) c.*315C>A (n.*315C>A) c.*242C>A (n.*242C>A) c.175C>A (p.Pro59Thr) c.508C>A (p.Pro170Thr) |