| 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.117530913_117530921del | CA2580076278 | CFTR | c.288_296del (p.Val97_Pro99del) c.*185_*193del (n.*185_*193del) c.*112_*120del (n.*112_*120del) c.45_53del (p.Val16_Pro18del) c.378_386del (p.Val127_Pro129del) | ClinVar |
| 7 | g.117530914_117530922del | CA2695208291 | CFTR | c.289_297del (p.Val97_Pro99del) c.*186_*194del (n.*186_*194del) c.*113_*121del (n.*113_*121del) c.46_54del (p.Val16_Pro18del) c.379_387del (p.Val127_Pro129del) | |
| 7 | g.117530918A= | CA1737359150 | CFTR | c.293A= (p.Gln98=) c.*190A= (n.*190A=) c.*117A= (n.*117A=) c.50A= (p.Gln17=) c.383A= (p.Gln128=) | |
| 7 | g.117530918A>C | CA326983 | CFTR | c.293A>C (p.Gln98Pro) c.*190A>C (n.*190A>C) c.*117A>C (n.*117A>C) c.50A>C (p.Gln17Pro) c.383A>C (p.Gln128Pro) | ClinVar dbSNP |
| 7 | g.117530918A>G | CA326985 | CFTR | c.293A>G (p.Gln98Arg) c.*190A>G (n.*190A>G) c.*117A>G (n.*117A>G) c.50A>G (p.Gln17Arg) c.383A>G (p.Gln128Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117530918A>T | CA368974254 | CFTR | c.293A>T (p.Gln98Leu) c.*190A>T (n.*190A>T) c.*117A>T (n.*117A>T) c.50A>T (p.Gln17Leu) c.383A>T (p.Gln128Leu) | |
| 7 | g.117530919_117530960del | CA2695208292 | CFTR | c.294_335del (p.Gln98_Asp112delinsHis) c.*191_*232del (n.*191_*232del) c.*118_*159del (n.*118_*159del) c.51_92del (p.Gln17_Asp31delinsHis) c.384_425del (p.Gln128_Asp142delinsHis) | |
| 7 | g.117530919G>A | CA457448547 | CFTR | c.294G>A (p.Gln98=) c.*191G>A (n.*191G>A) c.*118G>A (n.*118G>A) c.51G>A (p.Gln17=) c.384G>A (p.Gln128=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117530919G>C | CA368974256 | CFTR | c.294G>C (p.Gln98His) c.*191G>C (n.*191G>C) c.*118G>C (n.*118G>C) c.51G>C (p.Gln17His) c.384G>C (p.Gln128His) | |
| 7 | g.117530919G= | CA1737359154 | CFTR | c.294G= (p.Gln98=) c.*191G= (n.*191G=) c.*118G= (n.*118G=) c.51G= (p.Gln17=) c.384G= (p.Gln128=) | |
| 7 | g.117530919G>T | CA368974258 | CFTR | c.294G>T (p.Gln98His) c.*191G>T (n.*191G>T) c.*118G>T (n.*118G>T) c.51G>T (p.Gln17His) c.384G>T (p.Gln128His) | |
| 7 | g.117530920C>A | CA368974261 | CFTR | c.295C>A (p.Pro99Thr) c.*192C>A (n.*192C>A) c.*119C>A (n.*119C>A) c.52C>A (p.Pro18Thr) c.385C>A (p.Pro129Thr) | gnomAD v4 |
| 7 | g.117530920C= | CA1737359159 | CFTR | c.295C= (p.Pro99=) c.*192C= (n.*192C=) c.*119C= (n.*119C=) c.52C= (p.Pro18=) c.385C= (p.Pro129=) | |
| 7 | g.117530920C>G | CA164943588 | CFTR | c.295C>G (p.Pro99Ala) c.*192C>G (n.*192C>G) c.*119C>G (n.*119C>G) c.52C>G (p.Pro18Ala) c.385C>G (p.Pro129Ala) | ClinVar dbSNP |
| 7 | g.117530920C>T | CA368974263 | CFTR | c.295C>T (p.Pro99Ser) c.*192C>T (n.*192C>T) c.*119C>T (n.*119C>T) c.52C>T (p.Pro18Ser) c.385C>T (p.Pro129Ser) | |
| 7 | g.117530921C>A | CA368974264 | CFTR | c.296C>A (p.Pro99His) c.*193C>A (n.*193C>A) c.*120C>A (n.*120C>A) c.53C>A (p.Pro18His) c.386C>A (p.Pro129His) | |
| 7 | g.117530921C= | CA1737359165 | CFTR | c.296C= (p.Pro99=) c.*193C= (n.*193C=) c.*120C= (n.*120C=) c.53C= (p.Pro18=) c.386C= (p.Pro129=) | |
| 7 | g.117530921C>G | CA368974267 | CFTR | c.296C>G (p.Pro99Arg) c.*193C>G (n.*193C>G) c.*120C>G (n.*120C>G) c.53C>G (p.Pro18Arg) c.386C>G (p.Pro129Arg) | ClinVar |
| 7 | g.117530921C>T | CA326991 | CFTR | c.296C>T (p.Pro99Leu) c.*193C>T (n.*193C>T) c.*120C>T (n.*120C>T) c.53C>T (p.Pro18Leu) c.386C>T (p.Pro129Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117530925_117530926del | CA2580617092 | CFTR | c.300_301del (p.Leu101ThrfsTer9) c.*197_*198del (n.*197_*198del) c.*124_*125del (n.*124_*125del) c.57_58del (p.Leu20ThrfsTer9) c.390_391del (p.Leu131ThrfsTer9) | ClinVar dbSNP |
| 7 | g.117530922T>A | CA457448550 | CFTR | c.297T>A (p.Pro99=) c.*194T>A (n.*194T>A) c.*121T>A (n.*121T>A) c.54T>A (p.Pro18=) c.387T>A (p.Pro129=) | |
| 7 | g.117530922T>C | CA457448551 | CFTR | c.297T>C (p.Pro99=) c.*194T>C (n.*194T>C) c.*121T>C (n.*121T>C) c.54T>C (p.Pro18=) c.387T>C (p.Pro129=) | |
| 7 | g.117530922T>G | CA457448553 | CFTR | c.297T>G (p.Pro99=) c.*194T>G (n.*194T>G) c.*121T>G (n.*121T>G) c.54T>G (p.Pro18=) c.387T>G (p.Pro129=) | ClinVar dbSNP |
| 7 | g.117530923C>A | CA368974270 | CFTR | c.298C>A (p.Leu100Ile) c.*195C>A (n.*195C>A) c.*122C>A (n.*122C>A) c.55C>A (p.Leu19Ile) c.388C>A (p.Leu130Ile) | |
| 7 | g.117530923C= | CA1737359169 | CFTR | c.298C= (p.Leu100=) c.*195C= (n.*195C=) c.*122C= (n.*122C=) c.55C= (p.Leu19=) c.388C= (p.Leu130=) | |
| 7 | g.117530923C>G | CA4450701 | CFTR | c.298C>G (p.Leu100Val) c.*195C>G (n.*195C>G) c.*122C>G (n.*122C>G) c.55C>G (p.Leu19Val) c.388C>G (p.Leu130Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117530923C>T | CA368974272 | CFTR | c.298C>T (p.Leu100Phe) c.*195C>T (n.*195C>T) c.*122C>T (n.*122C>T) c.55C>T (p.Leu19Phe) c.388C>T (p.Leu130Phe) | ClinVar dbSNP |
| 7 | g.117530924del | CA2695208293 | CFTR | c.299del (p.Leu100ProfsTer7) c.*196del (n.*196del) c.*123del (n.*123del) c.56del (p.Leu19ProfsTer7) c.389del (p.Leu130ProfsTer7) | |
| 7 | g.117530924T>A | CA368974274 | CFTR | c.299T>A (p.Leu100His) c.*196T>A (n.*196T>A) c.*123T>A (n.*123T>A) c.56T>A (p.Leu19His) c.389T>A (p.Leu130His) | ClinVar |
| 7 | g.117530924T>C | CA368974276 | CFTR | c.299T>C (p.Leu100Pro) c.*196T>C (n.*196T>C) c.*123T>C (n.*123T>C) c.56T>C (p.Leu19Pro) c.389T>C (p.Leu130Pro) | |
| 7 | g.117530924T>G | CA368974277 | CFTR | c.299T>G (p.Leu100Arg) c.*196T>G (n.*196T>G) c.*123T>G (n.*123T>G) c.56T>G (p.Leu19Arg) c.389T>G (p.Leu130Arg) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 7 | g.117530924T= | CA1737359172 | CFTR | c.299T= (p.Leu100=) c.*196T= (n.*196T=) c.*123T= (n.*123T=) c.56T= (p.Leu19=) c.389T= (p.Leu130=) | |
| 7 | g.117530925C>A | CA457448555 | CFTR | c.300C>A (p.Leu100=) c.*197C>A (n.*197C>A) c.*124C>A (n.*124C>A) c.57C>A (p.Leu19=) c.390C>A (p.Leu130=) | |
| 7 | g.117530925C= | CA1737359174 | CFTR | c.300C= (p.Leu100=) c.*197C= (n.*197C=) c.*124C= (n.*124C=) c.57C= (p.Leu19=) c.390C= (p.Leu130=) | |
| 7 | g.117530925C>G | CA457448557 | CFTR | c.300C>G (p.Leu100=) c.*197C>G (n.*197C>G) c.*124C>G (n.*124C>G) c.57C>G (p.Leu19=) c.390C>G (p.Leu130=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117530925C>T | CA457448559 | CFTR | c.300C>T (p.Leu100=) c.*197C>T (n.*197C>T) c.*124C>T (n.*124C>T) c.57C>T (p.Leu19=) c.390C>T (p.Leu130=) | ClinVar dbSNP |
| 7 | g.117530926T>A | CA368974280 | CFTR | c.301T>A (p.Leu101Ile) c.*198T>A (n.*198T>A) c.*125T>A (n.*125T>A) c.58T>A (p.Leu20Ile) c.391T>A (p.Leu131Ile) | |
| 7 | g.117530926T>C | CA457448561 | CFTR | c.301T>C (p.Leu101=) c.*198T>C (n.*198T>C) c.*125T>C (n.*125T>C) c.58T>C (p.Leu20=) c.391T>C (p.Leu131=) | |
| 7 | g.117530926T>G | CA368974282 | CFTR | c.301T>G (p.Leu101Val) c.*198T>G (n.*198T>G) c.*125T>G (n.*125T>G) c.58T>G (p.Leu20Val) c.391T>G (p.Leu131Val) | |
| 7 | g.117530927T>A | CA368974284 | CFTR | c.302T>A (p.Leu101Ter) c.*199T>A (n.*199T>A) c.*126T>A (n.*126T>A) c.59T>A (p.Leu20Ter) c.392T>A (p.Leu131Ter) | |
| 7 | g.117530927T>C | CA327018 | CFTR | c.302T>C (p.Leu101Ser) c.*199T>C (n.*199T>C) c.*126T>C (n.*126T>C) c.59T>C (p.Leu20Ser) c.392T>C (p.Leu131Ser) | dbSNP |
| 7 | g.117530927T>G | CA327020 | CFTR | c.302T>G (p.Leu101Ter) c.*199T>G (n.*199T>G) c.*126T>G (n.*126T>G) c.59T>G (p.Leu20Ter) c.392T>G (p.Leu131Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117530927T= | CA1737359183 | CFTR | c.302T= (p.Leu101=) c.*199T= (n.*199T=) c.*126T= (n.*126T=) c.59T= (p.Leu20=) c.392T= (p.Leu131=) | |
| 7 | g.117530928A>C | CA368974287 | CFTR | c.303A>C (p.Leu101Phe) c.*200A>C (n.*200A>C) c.*127A>C (n.*127A>C) c.60A>C (p.Leu20Phe) c.393A>C (p.Leu131Phe) | gnomAD v4 |
| 7 | g.117530928A>G | CA457448562 | CFTR | c.303A>G (p.Leu101=) c.*200A>G (n.*200A>G) c.*127A>G (n.*127A>G) c.60A>G (p.Leu20=) c.393A>G (p.Leu131=) | ClinVar |
| 7 | g.117530928A>T | CA368974289 | CFTR | c.303A>T (p.Leu101Phe) c.*200A>T (n.*200A>T) c.*127A>T (n.*127A>T) c.60A>T (p.Leu20Phe) c.393A>T (p.Leu131Phe) | COSMIC |