| 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.117530905_117530911delinsTA | CA2695208290 | CFTR | c.280_286delinsTA (p.Thr94TyrfsTer15) c.*177_*183delinsTA (n.*177_*183delinsTA) c.*104_*110delinsTA (n.*104_*110delinsTA) c.37_43delinsTA (p.Thr13TyrfsTer15) c.370_376delinsTA (p.Thr124TyrfsTer15) | |
| 7 | g.117530908A>C | CA368974212 | CFTR | c.283A>C (p.Lys95Gln) c.*180A>C (n.*180A>C) c.*107A>C (n.*107A>C) c.40A>C (p.Lys14Gln) c.373A>C (p.Lys125Gln) | gnomAD v4 |
| 7 | g.117530908A>G | CA368974209 | CFTR | c.283A>G (p.Lys95Glu) c.*180A>G (n.*180A>G) c.*107A>G (n.*107A>G) c.40A>G (p.Lys14Glu) c.373A>G (p.Lys125Glu) | |
| 7 | g.117530908A>T | CA368974210 | CFTR | c.283A>T (p.Lys95Ter) c.*180A>T (n.*180A>T) c.*107A>T (n.*107A>T) c.40A>T (p.Lys14Ter) c.373A>T (p.Lys125Ter) | ClinVar |
| 7 | g.117530909A= | CA1737359124 | CFTR | c.284A= (p.Lys95=) c.*181A= (n.*181A=) c.*108A= (n.*108A=) c.41A= (p.Lys14=) c.374A= (p.Lys125=) | |
| 7 | g.117530909A>C | CA368974214 | CFTR | c.284A>C (p.Lys95Thr) c.*181A>C (n.*181A>C) c.*108A>C (n.*108A>C) c.41A>C (p.Lys14Thr) c.374A>C (p.Lys125Thr) | |
| 7 | g.117530909A>G | CA368974216 | CFTR | c.284A>G (p.Lys95Arg) c.*181A>G (n.*181A>G) c.*108A>G (n.*108A>G) c.41A>G (p.Lys14Arg) c.374A>G (p.Lys125Arg) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117530909A>T | CA368974218 | CFTR | c.284A>T (p.Lys95Ile) c.*181A>T (n.*181A>T) c.*108A>T (n.*108A>T) c.41A>T (p.Lys14Ile) c.374A>T (p.Lys125Ile) | |
| 7 | g.117530910A= | CA1737359130 | CFTR | c.285A= (p.Lys95=) c.*182A= (n.*182A=) c.*109A= (n.*109A=) c.42A= (p.Lys14=) c.375A= (p.Lys125=) | |
| 7 | g.117530910A>C | CA368974220 | CFTR | c.285A>C (p.Lys95Asn) c.*182A>C (n.*182A>C) c.*109A>C (n.*109A>C) c.42A>C (p.Lys14Asn) c.375A>C (p.Lys125Asn) | |
| 7 | g.117530910A>G | CA457448534 | CFTR | c.285A>G (p.Lys95=) c.*182A>G (n.*182A>G) c.*109A>G (n.*109A>G) c.42A>G (p.Lys14=) c.375A>G (p.Lys125=) | ClinVar dbSNP |
| 7 | g.117530910A>T | CA368974222 | CFTR | c.285A>T (p.Lys95Asn) c.*182A>T (n.*182A>T) c.*109A>T (n.*109A>T) c.42A>T (p.Lys14Asn) c.375A>T (p.Lys125Asn) | |
| 7 | g.117530911G>A | CA368974228 | CFTR | c.286G>A (p.Ala96Thr) c.*183G>A (n.*183G>A) c.*110G>A (n.*110G>A) c.43G>A (p.Ala15Thr) c.376G>A (p.Ala126Thr) | |
| 7 | g.117530911G>C | CA368974226 | CFTR | c.286G>C (p.Ala96Pro) c.*183G>C (n.*183G>C) c.*110G>C (n.*110G>C) c.43G>C (p.Ala15Pro) c.376G>C (p.Ala126Pro) | |
| 7 | g.117530911G>T | CA368974225 | CFTR | c.286G>T (p.Ala96Ser) c.*183G>T (n.*183G>T) c.*110G>T (n.*110G>T) c.43G>T (p.Ala15Ser) c.376G>T (p.Ala126Ser) | |
| 7 | g.117530912C>A | CA326952 | CFTR | c.287C>A (p.Ala96Glu) c.*184C>A (n.*184C>A) c.*111C>A (n.*111C>A) c.44C>A (p.Ala15Glu) c.377C>A (p.Ala126Glu) | ClinVar dbSNP |
| 7 | g.117530912C= | CA1737359133 | CFTR | c.287C= (p.Ala96=) c.*184C= (n.*184C=) c.*111C= (n.*111C=) c.44C= (p.Ala15=) c.377C= (p.Ala126=) | |
| 7 | g.117530912C>G | CA368974230 | CFTR | c.287C>G (p.Ala96Gly) c.*184C>G (n.*184C>G) c.*111C>G (n.*111C>G) c.44C>G (p.Ala15Gly) c.377C>G (p.Ala126Gly) | |
| 7 | g.117530912C>T | CA368974232 | CFTR | c.287C>T (p.Ala96Val) c.*184C>T (n.*184C>T) c.*111C>T (n.*111C>T) c.44C>T (p.Ala15Val) c.377C>T (p.Ala126Val) | |
| 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.117530913A>C | CA457448535 | CFTR | c.288A>C (p.Ala96=) c.*185A>C (n.*185A>C) c.*112A>C (n.*112A>C) c.45A>C (p.Ala15=) c.378A>C (p.Ala126=) | ClinVar |
| 7 | g.117530913A>G | CA457448537 | CFTR | c.288A>G (p.Ala96=) c.*185A>G (n.*185A>G) c.*112A>G (n.*112A>G) c.45A>G (p.Ala15=) c.378A>G (p.Ala126=) | ClinVar dbSNP |
| 7 | g.117530913A>T | CA457448539 | CFTR | c.288A>T (p.Ala96=) c.*185A>T (n.*185A>T) c.*112A>T (n.*112A>T) c.45A>T (p.Ala15=) c.378A>T (p.Ala126=) | COSMIC |
| 7 | g.117530914G>A | CA368974234 | CFTR | c.289G>A (p.Val97Ile) c.*186G>A (n.*186G>A) c.*113G>A (n.*113G>A) c.46G>A (p.Val16Ile) c.379G>A (p.Val127Ile) | |
| 7 | g.117530914G>C | CA368974236 | CFTR | c.289G>C (p.Val97Leu) c.*186G>C (n.*186G>C) c.*113G>C (n.*113G>C) c.46G>C (p.Val16Leu) c.379G>C (p.Val127Leu) | dbSNP gnomAD v4 |
| 7 | g.117530914G= | CA1737359135 | CFTR | c.289G= (p.Val97=) c.*186G= (n.*186G=) c.*113G= (n.*113G=) c.46G= (p.Val16=) c.379G= (p.Val127=) | |
| 7 | g.117530914G>T | CA368974237 | CFTR | c.289G>T (p.Val97Leu) c.*186G>T (n.*186G>T) c.*113G>T (n.*113G>T) c.46G>T (p.Val16Leu) c.379G>T (p.Val127Leu) | COSMIC |
| 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.117530915T>A | CA368974240 | CFTR | c.290T>A (p.Val97Glu) c.*187T>A (n.*187T>A) c.*114T>A (n.*114T>A) c.47T>A (p.Val16Glu) c.380T>A (p.Val127Glu) | |
| 7 | g.117530915T>C | CA368974244 | CFTR | c.290T>C (p.Val97Ala) c.*187T>C (n.*187T>C) c.*114T>C (n.*114T>C) c.47T>C (p.Val16Ala) c.380T>C (p.Val127Ala) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117530915T>G | CA368974242 | CFTR | c.290T>G (p.Val97Gly) c.*187T>G (n.*187T>G) c.*114T>G (n.*114T>G) c.47T>G (p.Val16Gly) c.380T>G (p.Val127Gly) | |
| 7 | g.117530915T= | CA1737359138 | CFTR | c.290T= (p.Val97=) c.*187T= (n.*187T=) c.*114T= (n.*114T=) c.47T= (p.Val16=) c.380T= (p.Val127=) | |
| 7 | g.117530916A= | CA1737359141 | CFTR | c.291A= (p.Val97=) c.*188A= (n.*188A=) c.*115A= (n.*115A=) c.48A= (p.Val16=) c.381A= (p.Val127=) | |
| 7 | g.117530916A>C | CA457448541 | CFTR | c.291A>C (p.Val97=) c.*188A>C (n.*188A>C) c.*115A>C (n.*115A>C) c.48A>C (p.Val16=) c.381A>C (p.Val127=) | |
| 7 | g.117530916A>G | CA457448542 | CFTR | c.291A>G (p.Val97=) c.*188A>G (n.*188A>G) c.*115A>G (n.*115A>G) c.48A>G (p.Val16=) c.381A>G (p.Val127=) | ClinVar dbSNP |
| 7 | g.117530916A>T | CA457448544 | CFTR | c.291A>T (p.Val97=) c.*188A>T (n.*188A>T) c.*115A>T (n.*115A>T) c.48A>T (p.Val16=) c.381A>T (p.Val127=) | |
| 7 | g.117530917C>A | CA368974246 | CFTR | c.292C>A (p.Gln98Lys) c.*189C>A (n.*189C>A) c.*116C>A (n.*116C>A) c.49C>A (p.Gln17Lys) c.382C>A (p.Gln128Lys) | |
| 7 | g.117530917C= | CA1737359145 | CFTR | c.292C= (p.Gln98=) c.*189C= (n.*189C=) c.*116C= (n.*116C=) c.49C= (p.Gln17=) c.382C= (p.Gln128=) | |
| 7 | g.117530917C>G | CA368974249 | CFTR | c.292C>G (p.Gln98Glu) c.*189C>G (n.*189C>G) c.*116C>G (n.*116C>G) c.49C>G (p.Gln17Glu) c.382C>G (p.Gln128Glu) | |
| 7 | g.117530917C>T | CA345317 | CFTR | c.292C>T (p.Gln98Ter) c.*189C>T (n.*189C>T) c.*116C>T (n.*116C>T) c.49C>T (p.Gln17Ter) c.382C>T (p.Gln128Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 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 |