| 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.117530901A= | CA1737359108 | CFTR | c.276A= (p.Glu92=) c.*173A= (n.*173A=) c.*100A= (n.*100A=) c.33A= (p.Glu11=) c.366A= (p.Glu122=) | |
| 7 | g.117530901A>C | CA368974184 | CFTR | c.276A>C (p.Glu92Asp) c.*173A>C (n.*173A>C) c.*100A>C (n.*100A>C) c.33A>C (p.Glu11Asp) c.366A>C (p.Glu122Asp) | |
| 7 | g.117530901A>G | CA457448527 | CFTR | c.276A>G (p.Glu92=) c.*173A>G (n.*173A>G) c.*100A>G (n.*100A>G) c.33A>G (p.Glu11=) c.366A>G (p.Glu122=) | |
| 7 | g.117530901A>T | CA326921 | CFTR | c.276A>T (p.Glu92Asp) c.*173A>T (n.*173A>T) c.*100A>T (n.*100A>T) c.33A>T (p.Glu11Asp) c.366A>T (p.Glu122Asp) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 7 | g.117530902G>A | CA368974187 | CFTR | c.277G>A (p.Val93Ile) c.*174G>A (n.*174G>A) c.*101G>A (n.*101G>A) c.34G>A (p.Val12Ile) c.367G>A (p.Val123Ile) | |
| 7 | g.117530902G>C | CA368974189 | CFTR | c.277G>C (p.Val93Leu) c.*174G>C (n.*174G>C) c.*101G>C (n.*101G>C) c.34G>C (p.Val12Leu) c.367G>C (p.Val123Leu) | |
| 7 | g.117530902G>T | CA368974191 | CFTR | c.277G>T (p.Val93Phe) c.*174G>T (n.*174G>T) c.*101G>T (n.*101G>T) c.34G>T (p.Val12Phe) c.367G>T (p.Val123Phe) | |
| 7 | g.117530903T>A | CA368974193 | CFTR | c.278T>A (p.Val93Asp) c.*175T>A (n.*175T>A) c.*102T>A (n.*102T>A) c.35T>A (p.Val12Asp) c.368T>A (p.Val123Asp) | ClinVar |
| 7 | g.117530903T>C | CA368974195 | CFTR | c.278T>C (p.Val93Ala) c.*175T>C (n.*175T>C) c.*102T>C (n.*102T>C) c.35T>C (p.Val12Ala) c.368T>C (p.Val123Ala) | |
| 7 | g.117530903T>G | CA368974197 | CFTR | c.278T>G (p.Val93Gly) c.*175T>G (n.*175T>G) c.*102T>G (n.*102T>G) c.35T>G (p.Val12Gly) c.368T>G (p.Val123Gly) | gnomAD v4 |
| 7 | g.117530904C>A | CA457448528 | CFTR | c.279C>A (p.Val93=) c.*176C>A (n.*176C>A) c.*103C>A (n.*103C>A) c.36C>A (p.Val12=) c.369C>A (p.Val123=) | gnomAD v4 |
| 7 | g.117530904C= | CA1737359110 | CFTR | c.279C= (p.Val93=) c.*176C= (n.*176C=) c.*103C= (n.*103C=) c.36C= (p.Val12=) c.369C= (p.Val123=) | |
| 7 | g.117530904C>G | CA457448529 | CFTR | c.279C>G (p.Val93=) c.*176C>G (n.*176C>G) c.*103C>G (n.*103C>G) c.36C>G (p.Val12=) c.369C>G (p.Val123=) | |
| 7 | g.117530904C>T | CA4450699 | CFTR | c.279C>T (p.Val93=) c.*176C>T (n.*176C>T) c.*103C>T (n.*103C>T) c.36C>T (p.Val12=) c.369C>T (p.Val123=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117530905A= | CA1737359112 | CFTR | c.280A= (p.Thr94=) c.*177A= (n.*177A=) c.*104A= (n.*104A=) c.37A= (p.Thr13=) c.370A= (p.Thr124=) | |
| 7 | g.117530905A>C | CA368974201 | CFTR | c.280A>C (p.Thr94Pro) c.*177A>C (n.*177A>C) c.*104A>C (n.*104A>C) c.37A>C (p.Thr13Pro) c.370A>C (p.Thr124Pro) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117530905A>G | CA368974203 | CFTR | c.280A>G (p.Thr94Ala) c.*177A>G (n.*177A>G) c.*104A>G (n.*104A>G) c.37A>G (p.Thr13Ala) c.370A>G (p.Thr124Ala) | dbSNP gnomAD v4 |
| 7 | g.117530905A>T | CA368974205 | CFTR | c.280A>T (p.Thr94Ser) c.*177A>T (n.*177A>T) c.*104A>T (n.*104A>T) c.37A>T (p.Thr13Ser) c.370A>T (p.Thr124Ser) | |
| 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.117530906C>A | CA368974207 | CFTR | c.281C>A (p.Thr94Asn) c.*178C>A (n.*178C>A) c.*105C>A (n.*105C>A) c.38C>A (p.Thr13Asn) c.371C>A (p.Thr124Asn) | |
| 7 | g.117530906C= | CA1737359117 | CFTR | c.281C= (p.Thr94=) c.*178C= (n.*178C=) c.*105C= (n.*105C=) c.38C= (p.Thr13=) c.371C= (p.Thr124=) | |
| 7 | g.117530906C>G | CA368974208 | CFTR | c.281C>G (p.Thr94Ser) c.*178C>G (n.*178C>G) c.*105C>G (n.*105C>G) c.38C>G (p.Thr13Ser) c.371C>G (p.Thr124Ser) | |
| 7 | g.117530906C>T | CA4450700 | CFTR | c.281C>T (p.Thr94Ile) c.*178C>T (n.*178C>T) c.*105C>T (n.*105C>T) c.38C>T (p.Thr13Ile) c.371C>T (p.Thr124Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117530907C>A | CA457448530 | CFTR | c.282C>A (p.Thr94=) c.*179C>A (n.*179C>A) c.*106C>A (n.*106C>A) c.39C>A (p.Thr13=) c.372C>A (p.Thr124=) | gnomAD v4 |
| 7 | g.117530907C= | CA1737359121 | CFTR | c.282C= (p.Thr94=) c.*179C= (n.*179C=) c.*106C= (n.*106C=) c.39C= (p.Thr13=) c.372C= (p.Thr124=) | |
| 7 | g.117530907C>G | CA457448532 | CFTR | c.282C>G (p.Thr94=) c.*179C>G (n.*179C>G) c.*106C>G (n.*106C>G) c.39C>G (p.Thr13=) c.372C>G (p.Thr124=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117530907C>T | CA457448531 | CFTR | c.282C>T (p.Thr94=) c.*179C>T (n.*179C>T) c.*106C>T (n.*106C>T) c.39C>T (p.Thr13=) c.372C>T (p.Thr124=) | |
| 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 |