| 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.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.117530933_117530934delinsGA | CA1737359216 | CFTR | c.308_309delinsGA (p.Gly103=) c.*205_*206delinsGA (n.*205_*206delinsGA) c.*132_*133delinsGA (n.*132_*133delinsGA) c.65_66delinsGA (p.Gly22=) c.398_399delinsGA (p.Gly133=) | |
| 7 | g.117530934A>C | CA457448573 | CFTR | c.309A>C (p.Gly103=) c.*206A>C (n.*206A>C) c.*133A>C (n.*133A>C) c.66A>C (p.Gly22=) c.399A>C (p.Gly133=) | |
| 7 | g.117530934A>G | CA457448576 | CFTR | c.309A>G (p.Gly103=) c.*206A>G (n.*206A>G) c.*133A>G (n.*133A>G) c.66A>G (p.Gly22=) c.399A>G (p.Gly133=) | ClinVar |
| 7 | g.117530934A>T | CA457448574 | CFTR | c.309A>T (p.Gly103=) c.*206A>T (n.*206A>T) c.*133A>T (n.*133A>T) c.66A>T (p.Gly22=) c.399A>T (p.Gly133=) | |
| 7 | g.117530935del | CA327048 | CFTR | c.310del (p.Arg104GlufsTer3) c.*207del (n.*207del) c.*134del (n.*134del) c.67del (p.Arg23GlufsTer3) c.400del (p.Arg134GlufsTer3) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117530935A= | CA1737359220 | CFTR | c.310A= (p.Arg104=) c.*207A= (n.*207A=) c.*134A= (n.*134A=) c.67A= (p.Arg23=) c.400A= (p.Arg134=) | |
| 7 | g.117530935A>C | CA457448577 | CFTR | c.310A>C (p.Arg104=) c.*207A>C (n.*207A>C) c.*134A>C (n.*134A>C) c.67A>C (p.Arg23=) c.400A>C (p.Arg134=) | |
| 7 | g.117530935A>G | CA4450703 | CFTR | c.310A>G (p.Arg104Gly) c.*207A>G (n.*207A>G) c.*134A>G (n.*134A>G) c.67A>G (p.Arg23Gly) c.400A>G (p.Arg134Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117530935A>T | CA368974312 | CFTR | c.310A>T (p.Arg104Ter) c.*207A>T (n.*207A>T) c.*134A>T (n.*134A>T) c.67A>T (p.Arg23Ter) c.400A>T (p.Arg134Ter) | |
| 7 | g.117530936G>A | CA164943615 | CFTR | c.311G>A (p.Arg104Lys) c.*208G>A (n.*208G>A) c.*135G>A (n.*135G>A) c.68G>A (p.Arg23Lys) c.401G>A (p.Arg134Lys) | dbSNP |
| 7 | g.117530936G>C | CA368974317 | CFTR | c.311G>C (p.Arg104Thr) c.*208G>C (n.*208G>C) c.*135G>C (n.*135G>C) c.68G>C (p.Arg23Thr) c.401G>C (p.Arg134Thr) | ClinVar |
| 7 | g.117530936G= | CA1737359224 | CFTR | c.311G= (p.Arg104=) c.*208G= (n.*208G=) c.*135G= (n.*135G=) c.68G= (p.Arg23=) c.401G= (p.Arg134=) | |
| 7 | g.117530936G>T | CA368974314 | CFTR | c.311G>T (p.Arg104Ile) c.*208G>T (n.*208G>T) c.*135G>T (n.*135G>T) c.68G>T (p.Arg23Ile) c.401G>T (p.Arg134Ile) | |
| 7 | g.117530936_117530937delinsGA | CA1737359223 | CFTR | c.311_312delinsGA (p.Arg104=) c.*208_*209delinsGA (n.*208_*209delinsGA) c.*135_*136delinsGA (n.*135_*136delinsGA) c.68_69delinsGA (p.Arg23=) c.401_402delinsGA (p.Arg134=) | |
| 7 | g.117530937A>C | CA368974320 | CFTR | c.312A>C (p.Arg104Ser) c.*209A>C (n.*209A>C) c.*136A>C (n.*136A>C) c.69A>C (p.Arg23Ser) c.402A>C (p.Arg134Ser) | |
| 7 | g.117530937A>G | CA457448582 | CFTR | c.312A>G (p.Arg104=) c.*209A>G (n.*209A>G) c.*136A>G (n.*136A>G) c.69A>G (p.Arg23=) c.402A>G (p.Arg134=) | ClinVar dbSNP |
| 7 | g.117530937A>T | CA368974324 | CFTR | c.312A>T (p.Arg104Ser) c.*209A>T (n.*209A>T) c.*136A>T (n.*136A>T) c.69A>T (p.Arg23Ser) c.402A>T (p.Arg134Ser) | |
| 7 | g.117530938del | CA327059 | CFTR | c.313del (p.Ile105SerfsTer2) c.*210del (n.*210del) c.*137del (n.*137del) c.70del (p.Ile24SerfsTer2) c.403del (p.Ile135SerfsTer2) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117530938A= | CA1737359230 | CFTR | c.313A= (p.Ile105=) c.*210A= (n.*210A=) c.*137A= (n.*137A=) c.70A= (p.Ile24=) c.403A= (p.Ile135=) | |
| 7 | g.117530938A>C | CA368974329 | CFTR | c.313A>C (p.Ile105Leu) c.*210A>C (n.*210A>C) c.*137A>C (n.*137A>C) c.70A>C (p.Ile24Leu) c.403A>C (p.Ile135Leu) | ClinVar dbSNP |
| 7 | g.117530938A>G | CA4450704 | CFTR | c.313A>G (p.Ile105Val) c.*210A>G (n.*210A>G) c.*137A>G (n.*137A>G) c.70A>G (p.Ile24Val) c.403A>G (p.Ile135Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117530938A>T | CA368974332 | CFTR | c.313A>T (p.Ile105Phe) c.*210A>T (n.*210A>T) c.*137A>T (n.*137A>T) c.70A>T (p.Ile24Phe) c.403A>T (p.Ile135Phe) | |
| 7 | g.117530939T>A | CA327065 | CFTR | c.314T>A (p.Ile105Asn) c.*211T>A (n.*211T>A) c.*138T>A (n.*138T>A) c.71T>A (p.Ile24Asn) c.404T>A (p.Ile135Asn) | ClinVar dbSNP |
| 7 | g.117530939T>C | CA368974338 | CFTR | c.314T>C (p.Ile105Thr) c.*211T>C (n.*211T>C) c.*138T>C (n.*138T>C) c.71T>C (p.Ile24Thr) c.404T>C (p.Ile135Thr) | |
| 7 | g.117530939T>G | CA368974336 | CFTR | c.314T>G (p.Ile105Ser) c.*211T>G (n.*211T>G) c.*138T>G (n.*138T>G) c.71T>G (p.Ile24Ser) c.404T>G (p.Ile135Ser) | gnomAD v4 |
| 7 | g.117530939T= | CA1737359233 | CFTR | c.314T= (p.Ile105=) c.*211T= (n.*211T=) c.*138T= (n.*138T=) c.71T= (p.Ile24=) c.404T= (p.Ile135=) | |
| 7 | g.117530940C>A | CA457448586 | CFTR | c.315C>A (p.Ile105=) c.*212C>A (n.*212C>A) c.*139C>A (n.*139C>A) c.72C>A (p.Ile24=) c.405C>A (p.Ile135=) | |
| 7 | g.117530940C>G | CA368974340 | CFTR | c.315C>G (p.Ile105Met) c.*212C>G (n.*212C>G) c.*139C>G (n.*139C>G) c.72C>G (p.Ile24Met) c.405C>G (p.Ile135Met) | gnomAD v4 |
| 7 | g.117530940C>T | CA457448587 | CFTR | c.315C>T (p.Ile105=) c.*212C>T (n.*212C>T) c.*139C>T (n.*139C>T) c.72C>T (p.Ile24=) c.405C>T (p.Ile135=) | gnomAD v4 |
| 7 | g.117530941A= | CA1737359238 | CFTR | c.316A= (p.Ile106=) c.*213A= (n.*213A=) c.*140A= (n.*140A=) c.73A= (p.Ile25=) c.406A= (p.Ile136=) | |
| 7 | g.117530941A>C | CA368974342 | CFTR | c.316A>C (p.Ile106Leu) c.*213A>C (n.*213A>C) c.*140A>C (n.*140A>C) c.73A>C (p.Ile25Leu) c.406A>C (p.Ile136Leu) | |
| 7 | g.117530941A>G | CA164943625 | CFTR | c.316A>G (p.Ile106Val) c.*213A>G (n.*213A>G) c.*140A>G (n.*140A>G) c.73A>G (p.Ile25Val) c.406A>G (p.Ile136Val) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117530941A>T | CA368974345 | CFTR | c.316A>T (p.Ile106Leu) c.*213A>T (n.*213A>T) c.*140A>T (n.*140A>T) c.73A>T (p.Ile25Leu) c.406A>T (p.Ile136Leu) | |
| 7 | g.117530941_117530949delinsATAGCTTCC | CA1737359237 | CFTR | c.316_324delinsATAGCTTCC (p.Ile106=) c.*213_*221delinsATAGCTTCC (n.*213_*221delinsATAGCTTCC) c.*140_*148delinsATAGCTTCC (n.*140_*148delinsATAGCTTCC) c.73_81delinsATAGCTTCC (p.Ile25=) c.406_414delinsATAGCTTCC (p.Ile136=) | |
| 7 | g.117530942T>A | CA368974348 | CFTR | c.317T>A (p.Ile106Lys) c.*214T>A (n.*214T>A) c.*141T>A (n.*141T>A) c.74T>A (p.Ile25Lys) c.407T>A (p.Ile136Lys) | |
| 7 | g.117530942T>C | CA368974353 | CFTR | c.317T>C (p.Ile106Thr) c.*214T>C (n.*214T>C) c.*141T>C (n.*141T>C) c.74T>C (p.Ile25Thr) c.407T>C (p.Ile136Thr) | ClinVar gnomAD v4 |
| 7 | g.117530942T>G | CA368974351 | CFTR | c.317T>G (p.Ile106Arg) c.*214T>G (n.*214T>G) c.*141T>G (n.*141T>G) c.74T>G (p.Ile25Arg) c.407T>G (p.Ile136Arg) | |
| 7 | g.117530944_117530951del | CA327090 | CFTR | c.319_326del (p.Ala107Ter) c.*216_*223del (n.*216_*223del) c.*143_*150del (n.*143_*150del) c.76_83del (p.Ala26Ter) c.409_416del (p.Ala137Ter) | ClinVar dbSNP |
| 7 | g.117530943A>C | CA457448590 | CFTR | c.318A>C (p.Ile106=) c.*215A>C (n.*215A>C) c.*142A>C (n.*142A>C) c.75A>C (p.Ile25=) c.408A>C (p.Ile136=) | |
| 7 | g.117530943A>G | CA368974362 | CFTR | c.318A>G (p.Ile106Met) c.*215A>G (n.*215A>G) c.*142A>G (n.*142A>G) c.75A>G (p.Ile25Met) c.408A>G (p.Ile136Met) | gnomAD v4 |
| 7 | g.117530943A>T | CA457448589 | CFTR | c.318A>T (p.Ile106=) c.*215A>T (n.*215A>T) c.*142A>T (n.*142A>T) c.75A>T (p.Ile25=) c.408A>T (p.Ile136=) | |
| 7 | g.117530944G>A | CA368974364 | CFTR | c.319G>A (p.Ala107Thr) c.*216G>A (n.*216G>A) c.*143G>A (n.*143G>A) c.76G>A (p.Ala26Thr) c.409G>A (p.Ala137Thr) | |
| 7 | g.117530944G>C | CA368974367 | CFTR | c.319G>C (p.Ala107Pro) c.*216G>C (n.*216G>C) c.*143G>C (n.*143G>C) c.76G>C (p.Ala26Pro) c.409G>C (p.Ala137Pro) | ClinVar dbSNP |
| 7 | g.117530944G= | CA1737359243 | CFTR | c.319G= (p.Ala107=) c.*216G= (n.*216G=) c.*143G= (n.*143G=) c.76G= (p.Ala26=) c.409G= (p.Ala137=) | |
| 7 | g.117530944G>T | CA368974369 | CFTR | c.319G>T (p.Ala107Ser) c.*216G>T (n.*216G>T) c.*143G>T (n.*143G>T) c.76G>T (p.Ala26Ser) c.409G>T (p.Ala137Ser) |