| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117535260G>A | CA260256 | CFTR | c.592G>A (p.Ala198Thr) c.*489G>A (n.*489G>A) c.*416G>A (n.*416G>A) c.349G>A (p.Ala117Thr) c.502G>A (p.Ala168Thr) c.682G>A (p.Ala228Thr) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117535260G>C | CA327587 | CFTR | c.592G>C (p.Ala198Pro) c.*489G>C (n.*489G>C) c.*416G>C (n.*416G>C) c.349G>C (p.Ala117Pro) c.502G>C (p.Ala168Pro) c.682G>C (p.Ala228Pro) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117535260G= | CA1737362111 | CFTR | c.592G= (p.Ala198=) c.*489G= (n.*489G=) c.*416G= (n.*416G=) c.349G= (p.Ala117=) c.502G= (p.Ala168=) c.682G= (p.Ala228=) | |
| 7 | g.117535260G>T | CA368976743 | CFTR | c.592G>T (p.Ala198Ser) c.*489G>T (n.*489G>T) c.*416G>T (n.*416G>T) c.349G>T (p.Ala117Ser) c.502G>T (p.Ala168Ser) c.682G>T (p.Ala228Ser) | ClinVar |
| 7 | g.117535261C>A | CA368976745 | CFTR | c.593C>A (p.Ala198Glu) c.*490C>A (n.*490C>A) c.*417C>A (n.*417C>A) c.350C>A (p.Ala117Glu) c.503C>A (p.Ala168Glu) c.683C>A (p.Ala228Glu) | |
| 7 | g.117535261C= | CA1737362112 | CFTR | c.593C= (p.Ala198=) c.*490C= (n.*490C=) c.*417C= (n.*417C=) c.350C= (p.Ala117=) c.503C= (p.Ala168=) c.683C= (p.Ala228=) | |
| 7 | g.117535261C>G | CA368976747 | CFTR | c.593C>G (p.Ala198Gly) c.*490C>G (n.*490C>G) c.*417C>G (n.*417C>G) c.350C>G (p.Ala117Gly) c.503C>G (p.Ala168Gly) c.683C>G (p.Ala228Gly) | gnomAD v4 |
| 7 | g.117535261C>T | CA164945434 | CFTR | c.593C>T (p.Ala198Val) c.*490C>T (n.*490C>T) c.*417C>T (n.*417C>T) c.350C>T (p.Ala117Val) c.503C>T (p.Ala168Val) c.683C>T (p.Ala228Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117535262A= | CA1737362113 | CFTR | c.594A= (p.Ala198=) c.*491A= (n.*491A=) c.*418A= (n.*418A=) c.351A= (p.Ala117=) c.504A= (p.Ala168=) c.684A= (p.Ala228=) | |
| 7 | g.117535262A>C | CA457227100 | CFTR | c.594A>C (p.Ala198=) c.*491A>C (n.*491A>C) c.*418A>C (n.*418A>C) c.351A>C (p.Ala117=) c.504A>C (p.Ala168=) c.684A>C (p.Ala228=) | ClinVar dbSNP |
| 7 | g.117535262A>G | CA457227102 | CFTR | c.594A>G (p.Ala198=) c.*491A>G (n.*491A>G) c.*418A>G (n.*418A>G) c.351A>G (p.Ala117=) c.504A>G (p.Ala168=) c.684A>G (p.Ala228=) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117535262A>T | CA457227101 | CFTR | c.594A>T (p.Ala198=) c.*491A>T (n.*491A>T) c.*418A>T (n.*418A>T) c.351A>T (p.Ala117=) c.504A>T (p.Ala168=) c.684A>T (p.Ala228=) | |
| 7 | g.117535263C>A | CA368976752 | CFTR | c.595C>A (p.His199Asn) c.*492C>A (n.*492C>A) c.*419C>A (n.*419C>A) c.352C>A (p.His118Asn) c.505C>A (p.His169Asn) c.685C>A (p.His229Asn) | |
| 7 | g.117535263C= | CA1737362114 | CFTR | c.595C= (p.His199=) c.*492C= (n.*492C=) c.*419C= (n.*419C=) c.352C= (p.His118=) c.505C= (p.His169=) c.685C= (p.His229=) | |
| 7 | g.117535263C>G | CA368976750 | CFTR | c.595C>G (p.His199Asp) c.*492C>G (n.*492C>G) c.*419C>G (n.*419C>G) c.352C>G (p.His118Asp) c.505C>G (p.His169Asp) c.685C>G (p.His229Asp) | |
| 7 | g.117535263C>T | CA328129 | CFTR | c.595C>T (p.His199Tyr) c.*492C>T (n.*492C>T) c.*419C>T (n.*419C>T) c.352C>T (p.His118Tyr) c.505C>T (p.His169Tyr) c.685C>T (p.His229Tyr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117535264A= | CA1737362115 | CFTR | c.596A= (p.His199=) c.*493A= (n.*493A=) c.*420A= (n.*420A=) c.353A= (p.His118=) c.506A= (p.His169=) c.686A= (p.His229=) | |
| 7 | g.117535264A>C | CA368976755 | CFTR | c.596A>C (p.His199Pro) c.*493A>C (n.*493A>C) c.*420A>C (n.*420A>C) c.353A>C (p.His118Pro) c.506A>C (p.His169Pro) c.686A>C (p.His229Pro) | |
| 7 | g.117535264A>G | CA327589 | CFTR | c.596A>G (p.His199Arg) c.*493A>G (n.*493A>G) c.*420A>G (n.*420A>G) c.353A>G (p.His118Arg) c.506A>G (p.His169Arg) c.686A>G (p.His229Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117535264A>T | CA368976757 | CFTR | c.596A>T (p.His199Leu) c.*493A>T (n.*493A>T) c.*420A>T (n.*420A>T) c.353A>T (p.His118Leu) c.506A>T (p.His169Leu) c.686A>T (p.His229Leu) | |
| 7 | g.117535265T>A | CA368976759 | CFTR | c.597T>A (p.His199Gln) c.*494T>A (n.*494T>A) c.*421T>A (n.*421T>A) c.354T>A (p.His118Gln) c.507T>A (p.His169Gln) c.687T>A (p.His229Gln) | |
| 7 | g.117535265T>C | CA457227105 | CFTR | c.597T>C (p.His199=) c.*494T>C (n.*494T>C) c.*421T>C (n.*421T>C) c.354T>C (p.His118=) c.507T>C (p.His169=) c.687T>C (p.His229=) | |
| 7 | g.117535265T>G | CA327591 | CFTR | c.597T>G (p.His199Gln) c.*494T>G (n.*494T>G) c.*421T>G (n.*421T>G) c.354T>G (p.His118Gln) c.507T>G (p.His169Gln) c.687T>G (p.His229Gln) | ClinVar dbSNP |
| 7 | g.117535265T= | CA1737362116 | CFTR | c.597T= (p.His199=) c.*494T= (n.*494T=) c.*421T= (n.*421T=) c.354T= (p.His118=) c.507T= (p.His169=) c.687T= (p.His229=) | |
| 7 | g.117535266T>A | CA327592 | CFTR | c.598T>A (p.Phe200Ile) c.*495T>A (n.*495T>A) c.*422T>A (n.*422T>A) c.355T>A (p.Phe119Ile) c.508T>A (p.Phe170Ile) c.688T>A (p.Phe230Ile) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117535266T>C | CA164945466 | CFTR | c.598T>C (p.Phe200Leu) c.*495T>C (n.*495T>C) c.*422T>C (n.*422T>C) c.355T>C (p.Phe119Leu) c.508T>C (p.Phe170Leu) c.688T>C (p.Phe230Leu) | dbSNP gnomAD v4 |
| 7 | g.117535266T>G | CA368976764 | CFTR | c.598T>G (p.Phe200Val) c.*495T>G (n.*495T>G) c.*422T>G (n.*422T>G) c.355T>G (p.Phe119Val) c.508T>G (p.Phe170Val) c.688T>G (p.Phe230Val) | ClinVar dbSNP |
| 7 | g.117535266T= | CA1737362117 | CFTR | c.598T= (p.Phe200=) c.*495T= (n.*495T=) c.*422T= (n.*422T=) c.355T= (p.Phe119=) c.508T= (p.Phe170=) c.688T= (p.Phe230=) | |
| 7 | g.117535267T>A | CA368976765 | CFTR | c.599T>A (p.Phe200Tyr) c.*496T>A (n.*496T>A) c.*423T>A (n.*423T>A) c.356T>A (p.Phe119Tyr) c.509T>A (p.Phe170Tyr) c.689T>A (p.Phe230Tyr) | |
| 7 | g.117535267T>C | CA368976766 | CFTR | c.599T>C (p.Phe200Ser) c.*496T>C (n.*496T>C) c.*423T>C (n.*423T>C) c.356T>C (p.Phe119Ser) c.509T>C (p.Phe170Ser) c.689T>C (p.Phe230Ser) | dbSNP |
| 7 | g.117535267T>G | CA368976768 | CFTR | c.599T>G (p.Phe200Cys) c.*496T>G (n.*496T>G) c.*423T>G (n.*423T>G) c.356T>G (p.Phe119Cys) c.509T>G (p.Phe170Cys) c.689T>G (p.Phe230Cys) | |
| 7 | g.117535267T= | CA1737362118 | CFTR | c.599T= (p.Phe200=) c.*496T= (n.*496T=) c.*423T= (n.*423T=) c.356T= (p.Phe119=) c.509T= (p.Phe170=) c.689T= (p.Phe230=) | |
| 7 | g.117535268C>A | CA4450781 | CFTR | c.600C>A (p.Phe200Leu) c.*497C>A (n.*497C>A) c.*424C>A (n.*424C>A) c.357C>A (p.Phe119Leu) c.510C>A (p.Phe170Leu) c.690C>A (p.Phe230Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117535268C= | CA1737362120 | CFTR | c.600C= (p.Phe200=) c.*497C= (n.*497C=) c.*424C= (n.*424C=) c.357C= (p.Phe119=) c.510C= (p.Phe170=) c.690C= (p.Phe230=) | |
| 7 | g.117535268C>G | CA368976771 | CFTR | c.600C>G (p.Phe200Leu) c.*497C>G (n.*497C>G) c.*424C>G (n.*424C>G) c.357C>G (p.Phe119Leu) c.510C>G (p.Phe170Leu) c.690C>G (p.Phe230Leu) | |
| 7 | g.117535268C>T | CA164945470 | CFTR | c.600C>T (p.Phe200=) c.*497C>T (n.*497C>T) c.*424C>T (n.*424C>T) c.357C>T (p.Phe119=) c.510C>T (p.Phe170=) c.690C>T (p.Phe230=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 7 | g.117535268_117535269delinsCG | CA1737362119 | CFTR | c.600_601delinsCG (p.Phe200=) c.*497_*498delinsCG (n.*497_*498delinsCG) c.*424_*425delinsCG (n.*424_*425delinsCG) c.357_358delinsCG (p.Phe119=) c.510_511delinsCG (p.Phe170=) c.690_691delinsCG (p.Phe230=) | |
| 7 | g.117535269del | CA327596 | CFTR | c.601del (p.Val201CysfsTer14) c.*498del (n.*498del) c.*425del (n.*425del) c.358del (p.Val120CysfsTer14) c.511del (p.Val171CysfsTer14) c.691del (p.Val231CysfsTer14) | ClinVar dbSNP |
| 7 | g.117535269G>A | CA327594 | CFTR | c.601G>A (p.Val201Met) c.*498G>A (n.*498G>A) c.*425G>A (n.*425G>A) c.358G>A (p.Val120Met) c.511G>A (p.Val171Met) c.691G>A (p.Val231Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117535269G>C | CA368976774 | CFTR | c.601G>C (p.Val201Leu) c.*498G>C (n.*498G>C) c.*425G>C (n.*425G>C) c.358G>C (p.Val120Leu) c.511G>C (p.Val171Leu) c.691G>C (p.Val231Leu) | gnomAD v4 |
| 7 | g.117535269G= | CA1737362121 | CFTR | c.601G= (p.Val201=) c.*498G= (n.*498G=) c.*425G= (n.*425G=) c.358G= (p.Val120=) c.511G= (p.Val171=) c.691G= (p.Val231=) | |
| 7 | g.117535269G>T | CA368976776 | CFTR | c.601G>T (p.Val201Leu) c.*498G>T (n.*498G>T) c.*425G>T (n.*425G>T) c.358G>T (p.Val120Leu) c.511G>T (p.Val171Leu) c.691G>T (p.Val231Leu) | |
| 7 | g.117535270T>A | CA368976779 | CFTR | c.602T>A (p.Val201Glu) c.*499T>A (n.*499T>A) c.*426T>A (n.*426T>A) c.359T>A (p.Val120Glu) c.512T>A (p.Val171Glu) c.692T>A (p.Val231Glu) | |
| 7 | g.117535270T>C | CA368976781 | CFTR | c.602T>C (p.Val201Ala) c.*499T>C (n.*499T>C) c.*426T>C (n.*426T>C) c.359T>C (p.Val120Ala) c.512T>C (p.Val171Ala) c.692T>C (p.Val231Ala) | |
| 7 | g.117535270T>G | CA368976783 | CFTR | c.602T>G (p.Val201Gly) c.*499T>G (n.*499T>G) c.*426T>G (n.*426T>G) c.359T>G (p.Val120Gly) c.512T>G (p.Val171Gly) c.692T>G (p.Val231Gly) | |
| 7 | g.117535271G>A | CA164945477 | CFTR | c.603G>A (p.Val201=) c.*500G>A (n.*500G>A) c.*427G>A (n.*427G>A) c.360G>A (p.Val120=) c.513G>A (p.Val171=) c.693G>A (p.Val231=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117535271G>C | CA457227110 | CFTR | c.603G>C (p.Val201=) c.*500G>C (n.*500G>C) c.*427G>C (n.*427G>C) c.360G>C (p.Val120=) c.513G>C (p.Val171=) c.693G>C (p.Val231=) | |
| 7 | g.117535271G= | CA1737362122 | CFTR | c.603G= (p.Val201=) c.*500G= (n.*500G=) c.*427G= (n.*427G=) c.360G= (p.Val120=) c.513G= (p.Val171=) c.693G= (p.Val231=) | |
| 7 | g.117535271G>T | CA457227109 | CFTR | c.603G>T (p.Val201=) c.*500G>T (n.*500G>T) c.*427G>T (n.*427G>T) c.360G>T (p.Val120=) c.513G>T (p.Val171=) c.693G>T (p.Val231=) | |
| 7 | g.117535272T>A | CA368976789 | CFTR | c.604T>A (p.Trp202Arg) c.*501T>A (n.*501T>A) c.*428T>A (n.*428T>A) c.361T>A (p.Trp121Arg) c.514T>A (p.Trp172Arg) c.694T>A (p.Trp232Arg) | |
| 7 | g.117535272T>C | CA368976785 | CFTR | c.604T>C (p.Trp202Arg) c.*501T>C (n.*501T>C) c.*428T>C (n.*428T>C) c.361T>C (p.Trp121Arg) c.514T>C (p.Trp172Arg) c.694T>C (p.Trp232Arg) | |
| 7 | g.117535272T>G | CA368976787 | CFTR | c.604T>G (p.Trp202Gly) c.*501T>G (n.*501T>G) c.*428T>G (n.*428T>G) c.361T>G (p.Trp121Gly) c.514T>G (p.Trp172Gly) c.694T>G (p.Trp232Gly) | |
| 7 | g.117535273G>A | CA368976792 | CFTR | c.605G>A (p.Trp202Ter) c.*502G>A (n.*502G>A) c.*429G>A (n.*429G>A) c.362G>A (p.Trp121Ter) c.515G>A (p.Trp172Ter) c.695G>A (p.Trp232Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117535273G>C | CA368976794 | CFTR | c.605G>C (p.Trp202Ser) c.*502G>C (n.*502G>C) c.*429G>C (n.*429G>C) c.362G>C (p.Trp121Ser) c.515G>C (p.Trp172Ser) c.695G>C (p.Trp232Ser) | |
| 7 | g.117535273G= | CA1737362123 | CFTR | c.605G= (p.Trp202=) c.*502G= (n.*502G=) c.*429G= (n.*429G=) c.362G= (p.Trp121=) c.515G= (p.Trp172=) c.695G= (p.Trp232=) | |
| 7 | g.117535273G>T | CA368976796 | CFTR | c.605G>T (p.Trp202Leu) c.*502G>T (n.*502G>T) c.*429G>T (n.*429G>T) c.362G>T (p.Trp121Leu) c.515G>T (p.Trp172Leu) c.695G>T (p.Trp232Leu) | |
| 7 | g.117535273_117535281del | CA645549558 | CFTR | c.605_613del (p.Trp202_Pro205delinsSer) c.*502_*510del (n.*502_*510del) c.*429_*437del (n.*429_*437del) c.362_370del (p.Trp121_Pro124delinsSer) c.515_523del (p.Trp172_Pro175delinsSer) c.695_703del (p.Trp232_Pro235delinsSer) | COSMIC |
| 7 | g.117535274G>A | CA327597 | CFTR | c.606G>A (p.Trp202Ter) c.*503G>A (n.*503G>A) c.*430G>A (n.*430G>A) c.363G>A (p.Trp121Ter) c.516G>A (p.Trp172Ter) c.696G>A (p.Trp232Ter) | ClinVar dbSNP |
| 7 | g.117535274G>C | CA368976798 | CFTR | c.606G>C (p.Trp202Cys) c.*503G>C (n.*503G>C) c.*430G>C (n.*430G>C) c.363G>C (p.Trp121Cys) c.516G>C (p.Trp172Cys) c.696G>C (p.Trp232Cys) | |
| 7 | g.117535274G= | CA1737362124 | CFTR | c.606G= (p.Trp202=) c.*503G= (n.*503G=) c.*430G= (n.*430G=) c.363G= (p.Trp121=) c.516G= (p.Trp172=) c.696G= (p.Trp232=) | |
| 7 | g.117535274G>T | CA368976799 | CFTR | c.606G>T (p.Trp202Cys) c.*503G>T (n.*503G>T) c.*430G>T (n.*430G>T) c.363G>T (p.Trp121Cys) c.516G>T (p.Trp172Cys) c.696G>T (p.Trp232Cys) | gnomAD v4 |
| 7 | g.117535275A>C | CA368976800 | CFTR | c.607A>C (p.Ile203Leu) c.*504A>C (n.*504A>C) c.*431A>C (n.*431A>C) c.364A>C (p.Ile122Leu) c.517A>C (p.Ile173Leu) c.697A>C (p.Ile233Leu) | |
| 7 | g.117535275A>G | CA368976803 | CFTR | c.607A>G (p.Ile203Val) c.*504A>G (n.*504A>G) c.*431A>G (n.*431A>G) c.364A>G (p.Ile122Val) c.517A>G (p.Ile173Val) c.697A>G (p.Ile233Val) | |
| 7 | g.117535275A>T | CA368976802 | CFTR | c.607A>T (p.Ile203Phe) c.*504A>T (n.*504A>T) c.*431A>T (n.*431A>T) c.364A>T (p.Ile122Phe) c.517A>T (p.Ile173Phe) c.697A>T (p.Ile233Phe) | |
| 7 | g.117535276T>A | CA368976805 | CFTR | c.608T>A (p.Ile203Asn) c.*505T>A (n.*505T>A) c.*432T>A (n.*432T>A) c.365T>A (p.Ile122Asn) c.518T>A (p.Ile173Asn) c.698T>A (p.Ile233Asn) | |
| 7 | g.117535276T>C | CA368976806 | CFTR | c.608T>C (p.Ile203Thr) c.*505T>C (n.*505T>C) c.*432T>C (n.*432T>C) c.365T>C (p.Ile122Thr) c.518T>C (p.Ile173Thr) c.698T>C (p.Ile233Thr) | |
| 7 | g.117535276T>G | CA368976808 | CFTR | c.608T>G (p.Ile203Ser) c.*505T>G (n.*505T>G) c.*432T>G (n.*432T>G) c.365T>G (p.Ile122Ser) c.518T>G (p.Ile173Ser) c.698T>G (p.Ile233Ser) | |
| 7 | g.117535277C>A | CA457227115 | CFTR | c.609C>A (p.Ile203=) c.*506C>A (n.*506C>A) c.*433C>A (n.*433C>A) c.366C>A (p.Ile122=) c.519C>A (p.Ile173=) c.699C>A (p.Ile233=) | ClinVar |
| 7 | g.117535277C= | CA1737362125 | CFTR | c.609C= (p.Ile203=) c.*506C= (n.*506C=) c.*433C= (n.*433C=) c.366C= (p.Ile122=) c.519C= (p.Ile173=) c.699C= (p.Ile233=) | |
| 7 | g.117535277C>G | CA327599 | CFTR | c.609C>G (p.Ile203Met) c.*506C>G (n.*506C>G) c.*433C>G (n.*433C>G) c.366C>G (p.Ile122Met) c.519C>G (p.Ile173Met) c.699C>G (p.Ile233Met) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117535277C>T | CA4450782 | CFTR | c.609C>T (p.Ile203=) c.*506C>T (n.*506C>T) c.*433C>T (n.*433C>T) c.366C>T (p.Ile122=) c.519C>T (p.Ile173=) c.699C>T (p.Ile233=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 7 | g.117535278G>A | CA4450783 | CFTR | c.610G>A (p.Ala204Thr) c.*507G>A (n.*507G>A) c.*434G>A (n.*434G>A) c.367G>A (p.Ala123Thr) c.520G>A (p.Ala174Thr) c.700G>A (p.Ala234Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117535278G>C | CA368976812 | CFTR | c.610G>C (p.Ala204Pro) c.*507G>C (n.*507G>C) c.*434G>C (n.*434G>C) c.367G>C (p.Ala123Pro) c.520G>C (p.Ala174Pro) c.700G>C (p.Ala234Pro) | dbSNP gnomAD v4 |
| 7 | g.117535278G= | CA1737362126 | CFTR | c.610G= (p.Ala204=) c.*507G= (n.*507G=) c.*434G= (n.*434G=) c.367G= (p.Ala123=) c.520G= (p.Ala174=) c.700G= (p.Ala234=) | |
| 7 | g.117535278G>T | CA368976813 | CFTR | c.610G>T (p.Ala204Ser) c.*507G>T (n.*507G>T) c.*434G>T (n.*434G>T) c.367G>T (p.Ala123Ser) c.520G>T (p.Ala174Ser) c.700G>T (p.Ala234Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117535279C>A | CA368976815 | CFTR | c.611C>A (p.Ala204Asp) c.*508C>A (n.*508C>A) c.*435C>A (n.*435C>A) c.368C>A (p.Ala123Asp) c.521C>A (p.Ala174Asp) c.701C>A (p.Ala234Asp) | |
| 7 | g.117535279C>G | CA368976816 | CFTR | c.611C>G (p.Ala204Gly) c.*508C>G (n.*508C>G) c.*435C>G (n.*435C>G) c.368C>G (p.Ala123Gly) c.521C>G (p.Ala174Gly) c.701C>G (p.Ala234Gly) | |
| 7 | g.117535279C>T | CA368976818 | CFTR | c.611C>T (p.Ala204Val) c.*508C>T (n.*508C>T) c.*435C>T (n.*435C>T) c.368C>T (p.Ala123Val) c.521C>T (p.Ala174Val) c.701C>T (p.Ala234Val) | gnomAD v4 |
| 7 | g.117535281_117538553del | CA2580076362 | CFTR | c.613_870-1547del c.*510_*767-1547del c.*437_*694-1547del c.370_627-1547del c.523_780-1547del c.703_960-1547del | ClinVar |
| 7 | g.117535280T>A | CA457227118 | CFTR | c.612T>A (p.Ala204=) c.*509T>A (n.*509T>A) c.*436T>A (n.*436T>A) c.369T>A (p.Ala123=) c.522T>A (p.Ala174=) c.702T>A (p.Ala234=) | |
| 7 | g.117535280T>C | CA457227119 | CFTR | c.612T>C (p.Ala204=) c.*509T>C (n.*509T>C) c.*436T>C (n.*436T>C) c.369T>C (p.Ala123=) c.522T>C (p.Ala174=) c.702T>C (p.Ala234=) | |
| 7 | g.117535280T>G | CA4450784 | CFTR | c.612T>G (p.Ala204=) c.*509T>G (n.*509T>G) c.*436T>G (n.*436T>G) c.369T>G (p.Ala123=) c.522T>G (p.Ala174=) c.702T>G (p.Ala234=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117535280T= | CA1737362127 | CFTR | c.612T= (p.Ala204=) c.*509T= (n.*509T=) c.*436T= (n.*436T=) c.369T= (p.Ala123=) c.522T= (p.Ala174=) c.702T= (p.Ala234=) | |
| 7 | g.117535281C>A | CA368976821 | CFTR | c.613C>A (p.Pro205Thr) c.*510C>A (n.*510C>A) c.*437C>A (n.*437C>A) c.370C>A (p.Pro124Thr) c.523C>A (p.Pro175Thr) c.703C>A (p.Pro235Thr) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117535281C= | CA1737362128 | CFTR | c.613C= (p.Pro205=) c.*510C= (n.*510C=) c.*437C= (n.*437C=) c.370C= (p.Pro124=) c.523C= (p.Pro175=) c.703C= (p.Pro235=) | |
| 7 | g.117535281C>G | CA368976824 | CFTR | c.613C>G (p.Pro205Ala) c.*510C>G (n.*510C>G) c.*437C>G (n.*437C>G) c.370C>G (p.Pro124Ala) c.523C>G (p.Pro175Ala) c.703C>G (p.Pro235Ala) | |
| 7 | g.117535281C>T | CA328130 | CFTR | c.613C>T (p.Pro205Ser) c.*510C>T (n.*510C>T) c.*437C>T (n.*437C>T) c.370C>T (p.Pro124Ser) c.523C>T (p.Pro175Ser) c.703C>T (p.Pro235Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 7 | g.117535282C>A | CA368976826 | CFTR | c.614C>A (p.Pro205His) c.*511C>A (n.*511C>A) c.*438C>A (n.*438C>A) c.371C>A (p.Pro124His) c.524C>A (p.Pro175His) c.704C>A (p.Pro235His) | |
| 7 | g.117535282C= | CA1737362129 | CFTR | c.614C= (p.Pro205=) c.*511C= (n.*511C=) c.*438C= (n.*438C=) c.371C= (p.Pro124=) c.524C= (p.Pro175=) c.704C= (p.Pro235=) | |
| 7 | g.117535282C>G | CA327601 | CFTR | c.614C>G (p.Pro205Arg) c.*511C>G (n.*511C>G) c.*438C>G (n.*438C>G) c.371C>G (p.Pro124Arg) c.524C>G (p.Pro175Arg) c.704C>G (p.Pro235Arg) | ClinVar dbSNP |
| 7 | g.117535282C>T | CA4450785 | CFTR | c.614C>T (p.Pro205Leu) c.*511C>T (n.*511C>T) c.*438C>T (n.*438C>T) c.371C>T (p.Pro124Leu) c.524C>T (p.Pro175Leu) c.704C>T (p.Pro235Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117535283T>A | CA457227122 | CFTR | c.615T>A (p.Pro205=) c.*512T>A (n.*512T>A) c.*439T>A (n.*439T>A) c.372T>A (p.Pro124=) c.525T>A (p.Pro175=) c.705T>A (p.Pro235=) | |
| 7 | g.117535283T>C | CA457227123 | CFTR | c.615T>C (p.Pro205=) c.*512T>C (n.*512T>C) c.*439T>C (n.*439T>C) c.372T>C (p.Pro124=) c.525T>C (p.Pro175=) c.705T>C (p.Pro235=) | |
| 7 | g.117535283T>G | CA457227124 | CFTR | c.615T>G (p.Pro205=) c.*512T>G (n.*512T>G) c.*439T>G (n.*439T>G) c.372T>G (p.Pro124=) c.525T>G (p.Pro175=) c.705T>G (p.Pro235=) | |
| 7 | g.117535284T>A | CA368976829 | CFTR | c.616T>A (p.Leu206Met) c.*513T>A (n.*513T>A) c.*440T>A (n.*440T>A) c.373T>A (p.Leu125Met) c.526T>A (p.Leu176Met) c.706T>A (p.Leu236Met) | |
| 7 | g.117535284T>C | CA457227125 | CFTR | c.616T>C (p.Leu206=) c.*513T>C (n.*513T>C) c.*440T>C (n.*440T>C) c.373T>C (p.Leu125=) c.526T>C (p.Leu176=) c.706T>C (p.Leu236=) | |
| 7 | g.117535284T>G | CA368976830 | CFTR | c.616T>G (p.Leu206Val) c.*513T>G (n.*513T>G) c.*440T>G (n.*440T>G) c.373T>G (p.Leu125Val) c.526T>G (p.Leu176Val) c.706T>G (p.Leu236Val) | |
| 7 | g.117535285T>A | CA368976836 | CFTR | c.617T>A (p.Leu206Ter) c.*514T>A (n.*514T>A) c.*441T>A (n.*441T>A) c.374T>A (p.Leu125Ter) c.527T>A (p.Leu176Ter) c.707T>A (p.Leu236Ter) | ClinVar |
| 7 | g.117535285T>C | CA368976838 | CFTR | c.617T>C (p.Leu206Ser) c.*514T>C (n.*514T>C) c.*441T>C (n.*441T>C) c.374T>C (p.Leu125Ser) c.527T>C (p.Leu176Ser) c.707T>C (p.Leu236Ser) | |
| 7 | g.117535285T>G | CA221035 | CFTR | c.617T>G (p.Leu206Trp) c.*514T>G (n.*514T>G) c.*441T>G (n.*441T>G) c.374T>G (p.Leu125Trp) c.527T>G (p.Leu176Trp) c.707T>G (p.Leu236Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117535285T= | CA1737362130 | CFTR | c.617T= (p.Leu206=) c.*514T= (n.*514T=) c.*441T= (n.*441T=) c.374T= (p.Leu125=) c.527T= (p.Leu176=) c.707T= (p.Leu236=) | |
| 7 | g.117535286G>A | CA457227128 | CFTR | c.618G>A (p.Leu206=) c.*515G>A (n.*515G>A) c.*442G>A (n.*442G>A) c.375G>A (p.Leu125=) c.528G>A (p.Leu176=) c.708G>A (p.Leu236=) | ClinVar gnomAD v4 |
| 7 | g.117535286G>C | CA368976842 | CFTR | c.618G>C (p.Leu206Phe) c.*515G>C (n.*515G>C) c.*442G>C (n.*442G>C) c.375G>C (p.Leu125Phe) c.528G>C (p.Leu176Phe) c.708G>C (p.Leu236Phe) | dbSNP gnomAD v4 |
| 7 | g.117535286G= | CA1737362131 | CFTR | c.618G= (p.Leu206=) c.*515G= (n.*515G=) c.*442G= (n.*442G=) c.375G= (p.Leu125=) c.528G= (p.Leu176=) c.708G= (p.Leu236=) | |
| 7 | g.117535286G>T | CA327603 | CFTR | c.618G>T (p.Leu206Phe) c.*515G>T (n.*515G>T) c.*442G>T (n.*442G>T) c.375G>T (p.Leu125Phe) c.528G>T (p.Leu176Phe) c.708G>T (p.Leu236Phe) | ClinVar dbSNP |
| 7 | g.117535287C>A | CA368976845 | CFTR | c.619C>A (p.Gln207Lys) c.*516C>A (n.*516C>A) c.*443C>A (n.*443C>A) c.376C>A (p.Gln126Lys) c.529C>A (p.Gln177Lys) c.709C>A (p.Gln237Lys) | ClinVar |
| 7 | g.117535287C= | CA1737362132 | CFTR | c.619C= (p.Gln207=) c.*516C= (n.*516C=) c.*443C= (n.*443C=) c.376C= (p.Gln126=) c.529C= (p.Gln177=) c.709C= (p.Gln237=) | |
| 7 | g.117535287C>G | CA368976847 | CFTR | c.619C>G (p.Gln207Glu) c.*516C>G (n.*516C>G) c.*443C>G (n.*443C>G) c.376C>G (p.Gln126Glu) c.529C>G (p.Gln177Glu) c.709C>G (p.Gln237Glu) | |
| 7 | g.117535287C>T | CA327605 | CFTR | c.619C>T (p.Gln207Ter) c.*516C>T (n.*516C>T) c.*443C>T (n.*443C>T) c.376C>T (p.Gln126Ter) c.529C>T (p.Gln177Ter) c.709C>T (p.Gln237Ter) | ClinVar dbSNP |
| 7 | g.117535288A>C | CA368976851 | CFTR | c.620A>C (p.Gln207Pro) c.*517A>C (n.*517A>C) c.*444A>C (n.*444A>C) c.377A>C (p.Gln126Pro) c.530A>C (p.Gln177Pro) c.710A>C (p.Gln237Pro) | |
| 7 | g.117535288A>G | CA368976848 | CFTR | c.620A>G (p.Gln207Arg) c.*517A>G (n.*517A>G) c.*444A>G (n.*444A>G) c.377A>G (p.Gln126Arg) c.530A>G (p.Gln177Arg) c.710A>G (p.Gln237Arg) | |
| 7 | g.117535288A>T | CA368976849 | CFTR | c.620A>T (p.Gln207Leu) c.*517A>T (n.*517A>T) c.*444A>T (n.*444A>T) c.377A>T (p.Gln126Leu) c.530A>T (p.Gln177Leu) c.710A>T (p.Gln237Leu) | |
| 7 | g.117535289A= | CA1737362133 | CFTR | c.621A= (p.Gln207=) c.*518A= (n.*518A=) c.*445A= (n.*445A=) c.378A= (p.Gln126=) c.531A= (p.Gln177=) c.711A= (p.Gln237=) | |
| 7 | g.117535289A>C | CA368976853 | CFTR | c.621A>C (p.Gln207His) c.*518A>C (n.*518A>C) c.*445A>C (n.*445A>C) c.378A>C (p.Gln126His) c.531A>C (p.Gln177His) c.711A>C (p.Gln237His) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117535289A>G | CA457227130 | CFTR | c.621A>G (p.Gln207=) c.*518A>G (n.*518A>G) c.*445A>G (n.*445A>G) c.378A>G (p.Gln126=) c.531A>G (p.Gln177=) c.711A>G (p.Gln237=) | ClinVar dbSNP |
| 7 | g.117535289A>T | CA368976854 | CFTR | c.621A>T (p.Gln207His) c.*518A>T (n.*518A>T) c.*445A>T (n.*445A>T) c.378A>T (p.Gln126His) c.531A>T (p.Gln177His) c.711A>T (p.Gln237His) | |
| 7 | g.117535290G>A | CA368976856 | CFTR | c.622G>A (p.Val208Met) c.*519G>A (n.*519G>A) c.*446G>A (n.*446G>A) c.379G>A (p.Val127Met) c.532G>A (p.Val178Met) c.712G>A (p.Val238Met) | ClinVar gnomAD v4 |
| 7 | g.117535290G>C | CA368976857 | CFTR | c.622G>C (p.Val208Leu) c.*519G>C (n.*519G>C) c.*446G>C (n.*446G>C) c.379G>C (p.Val127Leu) c.532G>C (p.Val178Leu) c.712G>C (p.Val238Leu) | |
| 7 | g.117535290G>T | CA368976858 | CFTR | c.622G>T (p.Val208Leu) c.*519G>T (n.*519G>T) c.*446G>T (n.*446G>T) c.379G>T (p.Val127Leu) c.532G>T (p.Val178Leu) c.712G>T (p.Val238Leu) | |
| 7 | g.117535291T>A | CA368976859 | CFTR | c.623T>A (p.Val208Glu) c.*520T>A (n.*520T>A) c.*447T>A (n.*447T>A) c.380T>A (p.Val127Glu) c.533T>A (p.Val178Glu) c.713T>A (p.Val238Glu) | |
| 7 | g.117535291T>C | CA4450786 | CFTR | c.623T>C (p.Val208Ala) c.*520T>C (n.*520T>C) c.*447T>C (n.*447T>C) c.380T>C (p.Val127Ala) c.533T>C (p.Val178Ala) c.713T>C (p.Val238Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117535291T>G | CA368976860 | CFTR | c.623T>G (p.Val208Gly) c.*520T>G (n.*520T>G) c.*447T>G (n.*447T>G) c.380T>G (p.Val127Gly) c.533T>G (p.Val178Gly) c.713T>G (p.Val238Gly) | gnomAD v4 |
| 7 | g.117535291T= | CA1737362134 | CFTR | c.623T= (p.Val208=) c.*520T= (n.*520T=) c.*447T= (n.*447T=) c.380T= (p.Val127=) c.533T= (p.Val178=) c.713T= (p.Val238=) | |
| 7 | g.117535292G>A | CA457227133 | CFTR | c.624G>A (p.Val208=) c.*521G>A (n.*521G>A) c.*448G>A (n.*448G>A) c.381G>A (p.Val127=) c.534G>A (p.Val178=) c.714G>A (p.Val238=) | gnomAD v4 |
| 7 | g.117535292G>C | CA457227134 | CFTR | c.624G>C (p.Val208=) c.*521G>C (n.*521G>C) c.*448G>C (n.*448G>C) c.381G>C (p.Val127=) c.534G>C (p.Val178=) c.714G>C (p.Val238=) | |
| 7 | g.117535292G>T | CA457227132 | CFTR | c.624G>T (p.Val208=) c.*521G>T (n.*521G>T) c.*448G>T (n.*448G>T) c.381G>T (p.Val127=) c.534G>T (p.Val178=) c.714G>T (p.Val238=) | |
| 7 | g.117535293G>A | CA368976862 | CFTR | c.625G>A (p.Ala209Thr) c.*522G>A (n.*522G>A) c.*449G>A (n.*449G>A) c.382G>A (p.Ala128Thr) c.535G>A (p.Ala179Thr) c.715G>A (p.Ala239Thr) | dbSNP gnomAD v4 |
| 7 | g.117535293G>C | CA368976865 | CFTR | c.625G>C (p.Ala209Pro) c.*522G>C (n.*522G>C) c.*449G>C (n.*449G>C) c.382G>C (p.Ala128Pro) c.535G>C (p.Ala179Pro) c.715G>C (p.Ala239Pro) | |
| 7 | g.117535293G= | CA1737362135 | CFTR | c.625G= (p.Ala209=) c.*522G= (n.*522G=) c.*449G= (n.*449G=) c.382G= (p.Ala128=) c.535G= (p.Ala179=) c.715G= (p.Ala239=) | |
| 7 | g.117535293G>T | CA327607 | CFTR | c.625G>T (p.Ala209Ser) c.*522G>T (n.*522G>T) c.*449G>T (n.*449G>T) c.382G>T (p.Ala128Ser) c.535G>T (p.Ala179Ser) c.715G>T (p.Ala239Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 7 | g.117535294del | CA2695208300 | CFTR | c.626del (p.Ala209AspfsTer6) c.*523del (n.*523del) c.*450del (n.*450del) c.383del (p.Ala128AspfsTer6) c.536del (p.Ala179AspfsTer6) c.716del (p.Ala239AspfsTer6) | |
| 7 | g.117535294C>A | CA368976868 | CFTR | c.626C>A (p.Ala209Glu) c.*523C>A (n.*523C>A) c.*450C>A (n.*450C>A) c.383C>A (p.Ala128Glu) c.536C>A (p.Ala179Glu) c.716C>A (p.Ala239Glu) | |
| 7 | g.117535294C>G | CA368976871 | CFTR | c.626C>G (p.Ala209Gly) c.*523C>G (n.*523C>G) c.*450C>G (n.*450C>G) c.383C>G (p.Ala128Gly) c.536C>G (p.Ala179Gly) c.716C>G (p.Ala239Gly) | |
| 7 | g.117535294C>T | CA368976870 | CFTR | c.626C>T (p.Ala209Val) c.*523C>T (n.*523C>T) c.*450C>T (n.*450C>T) c.383C>T (p.Ala128Val) c.536C>T (p.Ala179Val) c.716C>T (p.Ala239Val) | ClinVar |
| 7 | g.117535295A= | CA1737362136 | CFTR | c.627A= (p.Ala209=) c.*524A= (n.*524A=) c.*451A= (n.*451A=) c.384A= (p.Ala128=) c.537A= (p.Ala179=) c.717A= (p.Ala239=) | |
| 7 | g.117535295A>C | CA457227136 | CFTR | c.627A>C (p.Ala209=) c.*524A>C (n.*524A>C) c.*451A>C (n.*451A>C) c.384A>C (p.Ala128=) c.537A>C (p.Ala179=) c.717A>C (p.Ala239=) | |
| 7 | g.117535295A>G | CA327609 | CFTR | c.627A>G (p.Ala209=) c.*524A>G (n.*524A>G) c.*451A>G (n.*451A>G) c.384A>G (p.Ala128=) c.537A>G (p.Ala179=) c.717A>G (p.Ala239=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117535295A>T | CA457227139 | CFTR | c.627A>T (p.Ala209=) c.*524A>T (n.*524A>T) c.*451A>T (n.*451A>T) c.384A>T (p.Ala128=) c.537A>T (p.Ala179=) c.717A>T (p.Ala239=) | gnomAD v4 |
| 7 | g.117535296C>A | CA368976873 | CFTR | c.628C>A (p.Leu210Ile) c.*525C>A (n.*525C>A) c.*452C>A (n.*452C>A) c.385C>A (p.Leu129Ile) c.538C>A (p.Leu180Ile) c.718C>A (p.Leu240Ile) | ClinVar |
| 7 | g.117535296C= | CA1737362137 | CFTR | c.628C= (p.Leu210=) c.*525C= (n.*525C=) c.*452C= (n.*452C=) c.385C= (p.Leu129=) c.538C= (p.Leu180=) c.718C= (p.Leu240=) | |
| 7 | g.117535296C>G | CA368976874 | CFTR | c.628C>G (p.Leu210Val) c.*525C>G (n.*525C>G) c.*452C>G (n.*452C>G) c.385C>G (p.Leu129Val) c.538C>G (p.Leu180Val) c.718C>G (p.Leu240Val) | |
| 7 | g.117535296C>T | CA4450787 | CFTR | c.628C>T (p.Leu210Phe) c.*525C>T (n.*525C>T) c.*452C>T (n.*452C>T) c.385C>T (p.Leu129Phe) c.538C>T (p.Leu180Phe) c.718C>T (p.Leu240Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117535297T>A | CA368976876 | CFTR | c.629T>A (p.Leu210His) c.*526T>A (n.*526T>A) c.*453T>A (n.*453T>A) c.386T>A (p.Leu129His) c.539T>A (p.Leu180His) c.719T>A (p.Leu240His) | |
| 7 | g.117535297T>C | CA368976878 | CFTR | c.629T>C (p.Leu210Pro) c.*526T>C (n.*526T>C) c.*453T>C (n.*453T>C) c.386T>C (p.Leu129Pro) c.539T>C (p.Leu180Pro) c.719T>C (p.Leu240Pro) | gnomAD v4 |
| 7 | g.117535297T>G | CA368976879 | CFTR | c.629T>G (p.Leu210Arg) c.*526T>G (n.*526T>G) c.*453T>G (n.*453T>G) c.386T>G (p.Leu129Arg) c.539T>G (p.Leu180Arg) c.719T>G (p.Leu240Arg) | |
| 7 | g.117535298C>A | CA457227142 | CFTR | c.630C>A (p.Leu210=) c.*527C>A (n.*527C>A) c.*454C>A (n.*454C>A) c.387C>A (p.Leu129=) c.540C>A (p.Leu180=) c.720C>A (p.Leu240=) | ClinVar |
| 7 | g.117535298C= | CA1737362138 | CFTR | c.630C= (p.Leu210=) c.*527C= (n.*527C=) c.*454C= (n.*454C=) c.387C= (p.Leu129=) c.540C= (p.Leu180=) c.720C= (p.Leu240=) | |
| 7 | g.117535298C>G | CA457227141 | CFTR | c.630C>G (p.Leu210=) c.*527C>G (n.*527C>G) c.*454C>G (n.*454C>G) c.387C>G (p.Leu129=) c.540C>G (p.Leu180=) c.720C>G (p.Leu240=) | |
| 7 | g.117535298C>T | CA457227140 | CFTR | c.630C>T (p.Leu210=) c.*527C>T (n.*527C>T) c.*454C>T (n.*454C>T) c.387C>T (p.Leu129=) c.540C>T (p.Leu180=) c.720C>T (p.Leu240=) | ClinVar dbSNP gnomAD v4 COSMIC |
| 7 | g.117535299C>A | CA368976880 | CFTR | c.631C>A (p.Leu211Ile) c.*528C>A (n.*528C>A) c.*455C>A (n.*455C>A) c.388C>A (p.Leu130Ile) c.541C>A (p.Leu181Ile) c.721C>A (p.Leu241Ile) | |
| 7 | g.117535299C>G | CA368976881 | CFTR | c.631C>G (p.Leu211Val) c.*528C>G (n.*528C>G) c.*455C>G (n.*455C>G) c.388C>G (p.Leu130Val) c.541C>G (p.Leu181Val) c.721C>G (p.Leu241Val) | |
| 7 | g.117535299C>T | CA368976882 | CFTR | c.631C>T (p.Leu211Phe) c.*528C>T (n.*528C>T) c.*455C>T (n.*455C>T) c.388C>T (p.Leu130Phe) c.541C>T (p.Leu181Phe) c.721C>T (p.Leu241Phe) | |
| 7 | g.117535300T>A | CA368976884 | CFTR | c.632T>A (p.Leu211His) c.*529T>A (n.*529T>A) c.*456T>A (n.*456T>A) c.389T>A (p.Leu130His) c.542T>A (p.Leu181His) c.722T>A (p.Leu241His) | |
| 7 | g.117535300T>C | CA368976885 | CFTR | c.632T>C (p.Leu211Pro) c.*529T>C (n.*529T>C) c.*456T>C (n.*456T>C) c.389T>C (p.Leu130Pro) c.542T>C (p.Leu181Pro) c.722T>C (p.Leu241Pro) | gnomAD v4 |
| 7 | g.117535300T>G | CA368976887 | CFTR | c.632T>G (p.Leu211Arg) c.*529T>G (n.*529T>G) c.*456T>G (n.*456T>G) c.389T>G (p.Leu130Arg) c.542T>G (p.Leu181Arg) c.722T>G (p.Leu241Arg) | |
| 7 | g.117535301C>A | CA457227146 | CFTR | c.633C>A (p.Leu211=) c.*530C>A (n.*530C>A) c.*457C>A (n.*457C>A) c.390C>A (p.Leu130=) c.543C>A (p.Leu181=) c.723C>A (p.Leu241=) | |
| 7 | g.117535301C>G | CA457227147 | CFTR | c.633C>G (p.Leu211=) c.*530C>G (n.*530C>G) c.*457C>G (n.*457C>G) c.390C>G (p.Leu130=) c.543C>G (p.Leu181=) c.723C>G (p.Leu241=) | |
| 7 | g.117535301C>T | CA457227148 | CFTR | c.633C>T (p.Leu211=) c.*530C>T (n.*530C>T) c.*457C>T (n.*457C>T) c.390C>T (p.Leu130=) c.543C>T (p.Leu181=) c.723C>T (p.Leu241=) | ClinVar dbSNP COSMIC |
| 7 | g.117535302A= | CA1737362139 | CFTR | c.634A= (p.Met212=) c.*531A= (n.*531A=) c.*458A= (n.*458A=) c.391A= (p.Met131=) c.544A= (p.Met182=) c.724A= (p.Met242=) | |
| 7 | g.117535302A>C | CA368976892 | CFTR | c.634A>C (p.Met212Leu) c.*531A>C (n.*531A>C) c.*458A>C (n.*458A>C) c.391A>C (p.Met131Leu) c.544A>C (p.Met182Leu) c.724A>C (p.Met242Leu) | |
| 7 | g.117535302A>G | CA4450788 | CFTR | c.634A>G (p.Met212Val) c.*531A>G (n.*531A>G) c.*458A>G (n.*458A>G) c.391A>G (p.Met131Val) c.544A>G (p.Met182Val) c.724A>G (p.Met242Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117535302A>T | CA368976889 | CFTR | c.634A>T (p.Met212Leu) c.*531A>T (n.*531A>T) c.*458A>T (n.*458A>T) c.391A>T (p.Met131Leu) c.544A>T (p.Met182Leu) c.724A>T (p.Met242Leu) | gnomAD v4 |
| 7 | g.117535303T>A | CA368976894 | CFTR | c.635T>A (p.Met212Lys) c.*532T>A (n.*532T>A) c.*459T>A (n.*459T>A) c.392T>A (p.Met131Lys) c.545T>A (p.Met182Lys) c.725T>A (p.Met242Lys) | |
| 7 | g.117535303T>C | CA368976895 | CFTR | c.635T>C (p.Met212Thr) c.*532T>C (n.*532T>C) c.*459T>C (n.*459T>C) c.392T>C (p.Met131Thr) c.545T>C (p.Met182Thr) c.725T>C (p.Met242Thr) | ClinVar |
| 7 | g.117535303T>G | CA368976897 | CFTR | c.635T>G (p.Met212Arg) c.*532T>G (n.*532T>G) c.*459T>G (n.*459T>G) c.392T>G (p.Met131Arg) c.545T>G (p.Met182Arg) c.725T>G (p.Met242Arg) | |
| 7 | g.117535304G>A | CA368976899 | CFTR | c.636G>A (p.Met212Ile) c.*533G>A (n.*533G>A) c.*460G>A (n.*460G>A) c.393G>A (p.Met131Ile) c.546G>A (p.Met182Ile) c.726G>A (p.Met242Ile) | gnomAD v4 |
| 7 | g.117535304G>C | CA368976901 | CFTR | c.636G>C (p.Met212Ile) c.*533G>C (n.*533G>C) c.*460G>C (n.*460G>C) c.393G>C (p.Met131Ile) c.546G>C (p.Met182Ile) c.726G>C (p.Met242Ile) | |
| 7 | g.117535304G>T | CA368976903 | CFTR | c.636G>T (p.Met212Ile) c.*533G>T (n.*533G>T) c.*460G>T (n.*460G>T) c.393G>T (p.Met131Ile) c.546G>T (p.Met182Ile) c.726G>T (p.Met242Ile) | |
| 7 | g.117535305G>A | CA368976905 | CFTR | c.637G>A (p.Gly213Arg) c.*534G>A (n.*534G>A) c.*461G>A (n.*461G>A) c.394G>A (p.Gly132Arg) c.547G>A (p.Gly183Arg) c.727G>A (p.Gly243Arg) | |
| 7 | g.117535305G>C | CA368976907 | CFTR | c.637G>C (p.Gly213Arg) c.*534G>C (n.*534G>C) c.*461G>C (n.*461G>C) c.394G>C (p.Gly132Arg) c.547G>C (p.Gly183Arg) c.727G>C (p.Gly243Arg) | |
| 7 | g.117535305G>T | CA368976908 | CFTR | c.637G>T (p.Gly213Trp) c.*534G>T (n.*534G>T) c.*461G>T (n.*461G>T) c.394G>T (p.Gly132Trp) c.547G>T (p.Gly183Trp) c.727G>T (p.Gly243Trp) | |
| 7 | g.117535306G>A | CA4450789 | CFTR | c.638G>A (p.Gly213Glu) c.*535G>A (n.*535G>A) c.*462G>A (n.*462G>A) c.395G>A (p.Gly132Glu) c.548G>A (p.Gly183Glu) c.728G>A (p.Gly243Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117535306G>C | CA368976911 | CFTR | c.638G>C (p.Gly213Ala) c.*535G>C (n.*535G>C) c.*462G>C (n.*462G>C) c.395G>C (p.Gly132Ala) c.548G>C (p.Gly183Ala) c.728G>C (p.Gly243Ala) | |
| 7 | g.117535306G= | CA1737362140 | CFTR | c.638G= (p.Gly213=) c.*535G= (n.*535G=) c.*462G= (n.*462G=) c.395G= (p.Gly132=) c.548G= (p.Gly183=) c.728G= (p.Gly243=) | |
| 7 | g.117535306G>T | CA368976913 | CFTR | c.638G>T (p.Gly213Val) c.*535G>T (n.*535G>T) c.*462G>T (n.*462G>T) c.395G>T (p.Gly132Val) c.548G>T (p.Gly183Val) c.728G>T (p.Gly243Val) | gnomAD v4 |
| 7 | g.117535307G>A | CA4450790 | CFTR | c.639G>A (p.Gly213=) c.*536G>A (n.*536G>A) c.*463G>A (n.*463G>A) c.396G>A (p.Gly132=) c.549G>A (p.Gly183=) c.729G>A (p.Gly243=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117535307G>C | CA457227150 | CFTR | c.639G>C (p.Gly213=) c.*536G>C (n.*536G>C) c.*463G>C (n.*463G>C) c.396G>C (p.Gly132=) c.549G>C (p.Gly183=) c.729G>C (p.Gly243=) | |
| 7 | g.117535307G= | CA1737362141 | CFTR | c.639G= (p.Gly213=) c.*536G= (n.*536G=) c.*463G= (n.*463G=) c.396G= (p.Gly132=) c.549G= (p.Gly183=) c.729G= (p.Gly243=) | |
| 7 | g.117535307G>T | CA457227151 | CFTR | c.639G>T (p.Gly213=) c.*536G>T (n.*536G>T) c.*463G>T (n.*463G>T) c.396G>T (p.Gly132=) c.549G>T (p.Gly183=) c.729G>T (p.Gly243=) | |
| 7 | g.117535308C>A | CA368976916 | CFTR | c.640C>A (p.Leu214Ile) c.*537C>A (n.*537C>A) c.*464C>A (n.*464C>A) c.397C>A (p.Leu133Ile) c.550C>A (p.Leu184Ile) c.730C>A (p.Leu244Ile) | dbSNP |
| 7 | g.117535308C= | CA1737362142 | CFTR | c.640C= (p.Leu214=) c.*537C= (n.*537C=) c.*464C= (n.*464C=) c.397C= (p.Leu133=) c.550C= (p.Leu184=) c.730C= (p.Leu244=) | |
| 7 | g.117535308C>G | CA4450791 | CFTR | c.640C>G (p.Leu214Val) c.*537C>G (n.*537C>G) c.*464C>G (n.*464C>G) c.397C>G (p.Leu133Val) c.550C>G (p.Leu184Val) c.730C>G (p.Leu244Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117535308C>T | CA4450792 | CFTR | c.640C>T (p.Leu214=) c.*537C>T (n.*537C>T) c.*464C>T (n.*464C>T) c.397C>T (p.Leu133=) c.550C>T (p.Leu184=) c.730C>T (p.Leu244=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117535309T>A | CA368976918 | CFTR | c.641T>A (p.Leu214Gln) c.*538T>A (n.*538T>A) c.*465T>A (n.*465T>A) c.398T>A (p.Leu133Gln) c.551T>A (p.Leu184Gln) c.731T>A (p.Leu244Gln) | |
| 7 | g.117535309T>C | CA368976921 | CFTR | c.641T>C (p.Leu214Pro) c.*538T>C (n.*538T>C) c.*465T>C (n.*465T>C) c.398T>C (p.Leu133Pro) c.551T>C (p.Leu184Pro) c.731T>C (p.Leu244Pro) | |
| 7 | g.117535309T>G | CA368976923 | CFTR | c.641T>G (p.Leu214Arg) c.*538T>G (n.*538T>G) c.*465T>G (n.*465T>G) c.398T>G (p.Leu133Arg) c.551T>G (p.Leu184Arg) c.731T>G (p.Leu244Arg) | |
| 7 | g.117535310A= | CA1737362143 | CFTR | c.642A= (p.Leu214=) c.*539A= (n.*539A=) c.*466A= (n.*466A=) c.399A= (p.Leu133=) c.552A= (p.Leu184=) c.732A= (p.Leu244=) | |
| 7 | g.117535310A>C | CA457227155 | CFTR | c.642A>C (p.Leu214=) c.*539A>C (n.*539A>C) c.*466A>C (n.*466A>C) c.399A>C (p.Leu133=) c.552A>C (p.Leu184=) c.732A>C (p.Leu244=) | gnomAD v4 |
| 7 | g.117535310A>G | CA4450793 | CFTR | c.642A>G (p.Leu214=) c.*539A>G (n.*539A>G) c.*466A>G (n.*466A>G) c.399A>G (p.Leu133=) c.552A>G (p.Leu184=) c.732A>G (p.Leu244=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117535310A>T | CA457227156 | CFTR | c.642A>T (p.Leu214=) c.*539A>T (n.*539A>T) c.*466A>T (n.*466A>T) c.399A>T (p.Leu133=) c.552A>T (p.Leu184=) c.732A>T (p.Leu244=) | |
| 7 | g.117535310_117535311insT | CA327611 | CFTR | c.642_643insT (p.Ile215TyrfsTer?) c.*539_*540insT (n.*539_*540insT) c.*466_*467insT (n.*466_*467insT) c.399_400insT (p.Ile134TyrfsTer?) c.552_553insT (p.Ile185TyrfsTer?) c.732_733insT (p.Ile245TyrfsTer?) | ClinVar dbSNP |
| 7 | g.117535311A>C | CA368976928 | CFTR | c.643A>C (p.Ile215Leu) c.*540A>C (n.*540A>C) c.*467A>C (n.*467A>C) c.400A>C (p.Ile134Leu) c.553A>C (p.Ile185Leu) c.733A>C (p.Ile245Leu) | |
| 7 | g.117535311A>G | CA368976930 | CFTR | c.643A>G (p.Ile215Val) c.*540A>G (n.*540A>G) c.*467A>G (n.*467A>G) c.400A>G (p.Ile134Val) c.553A>G (p.Ile185Val) c.733A>G (p.Ile245Val) | gnomAD v4 |
| 7 | g.117535311A>T | CA368976932 | CFTR | c.643A>T (p.Ile215Phe) c.*540A>T (n.*540A>T) c.*467A>T (n.*467A>T) c.400A>T (p.Ile134Phe) c.553A>T (p.Ile185Phe) c.733A>T (p.Ile245Phe) | |
| 7 | g.117535312T>A | CA368976934 | CFTR | c.644T>A (p.Ile215Asn) c.*541T>A (n.*541T>A) c.*468T>A (n.*468T>A) c.401T>A (p.Ile134Asn) c.554T>A (p.Ile185Asn) c.734T>A (p.Ile245Asn) | |
| 7 | g.117535312T>C | CA368976936 | CFTR | c.644T>C (p.Ile215Thr) c.*541T>C (n.*541T>C) c.*468T>C (n.*468T>C) c.401T>C (p.Ile134Thr) c.554T>C (p.Ile185Thr) c.734T>C (p.Ile245Thr) | |
| 7 | g.117535312T>G | CA368976938 | CFTR | c.644T>G (p.Ile215Ser) c.*541T>G (n.*541T>G) c.*468T>G (n.*468T>G) c.401T>G (p.Ile134Ser) c.554T>G (p.Ile185Ser) c.734T>G (p.Ile245Ser) | |
| 7 | g.117535313C>A | CA457227160 | CFTR | c.645C>A (p.Ile215=) c.*542C>A (n.*542C>A) c.*469C>A (n.*469C>A) c.402C>A (p.Ile134=) c.555C>A (p.Ile185=) c.735C>A (p.Ile245=) | |
| 7 | g.117535313C>G | CA368976939 | CFTR | c.645C>G (p.Ile215Met) c.*542C>G (n.*542C>G) c.*469C>G (n.*469C>G) c.402C>G (p.Ile134Met) c.555C>G (p.Ile185Met) c.735C>G (p.Ile245Met) | |
| 7 | g.117535313C>T | CA457227158 | CFTR | c.645C>T (p.Ile215=) c.*542C>T (n.*542C>T) c.*469C>T (n.*469C>T) c.402C>T (p.Ile134=) c.555C>T (p.Ile185=) c.735C>T (p.Ile245=) | ClinVar |
| 7 | g.117535314T>A | CA368976944 | CFTR | c.646T>A (p.Trp216Arg) c.*543T>A (n.*543T>A) c.*470T>A (n.*470T>A) c.403T>A (p.Trp135Arg) c.556T>A (p.Trp186Arg) c.736T>A (p.Trp246Arg) | |
| 7 | g.117535314T>C | CA368976941 | CFTR | c.646T>C (p.Trp216Arg) c.*543T>C (n.*543T>C) c.*470T>C (n.*470T>C) c.403T>C (p.Trp135Arg) c.556T>C (p.Trp186Arg) c.736T>C (p.Trp246Arg) | ClinVar dbSNP |
| 7 | g.117535314T>G | CA368976942 | CFTR | c.646T>G (p.Trp216Gly) c.*543T>G (n.*543T>G) c.*470T>G (n.*470T>G) c.403T>G (p.Trp135Gly) c.556T>G (p.Trp186Gly) c.736T>G (p.Trp246Gly) | |
| 7 | g.117535314T= | CA1737362144 | CFTR | c.646T= (p.Trp216=) c.*543T= (n.*543T=) c.*470T= (n.*470T=) c.403T= (p.Trp135=) c.556T= (p.Trp186=) c.736T= (p.Trp246=) | |
| 7 | g.117535315G>A | CA327612 | CFTR | c.647G>A (p.Trp216Ter) c.*544G>A (n.*544G>A) c.*471G>A (n.*471G>A) c.404G>A (p.Trp135Ter) c.557G>A (p.Trp186Ter) c.737G>A (p.Trp246Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117535315G>C | CA368976946 | CFTR | c.647G>C (p.Trp216Ser) c.*544G>C (n.*544G>C) c.*471G>C (n.*471G>C) c.404G>C (p.Trp135Ser) c.557G>C (p.Trp186Ser) c.737G>C (p.Trp246Ser) | ClinVar gnomAD v4 |
| 7 | g.117535315G= | CA1737362145 | CFTR | c.647G= (p.Trp216=) c.*544G= (n.*544G=) c.*471G= (n.*471G=) c.404G= (p.Trp135=) c.557G= (p.Trp186=) c.737G= (p.Trp246=) | |
| 7 | g.117535315G>T | CA368976947 | CFTR | c.647G>T (p.Trp216Leu) c.*544G>T (n.*544G>T) c.*471G>T (n.*471G>T) c.404G>T (p.Trp135Leu) c.557G>T (p.Trp186Leu) c.737G>T (p.Trp246Leu) | |
| 7 | g.117535316G>A | CA368976948 | CFTR | c.648G>A (p.Trp216Ter) c.*545G>A (n.*545G>A) c.*472G>A (n.*472G>A) c.405G>A (p.Trp135Ter) c.558G>A (p.Trp186Ter) c.738G>A (p.Trp246Ter) | |
| 7 | g.117535316G>C | CA368976949 | CFTR | c.648G>C (p.Trp216Cys) c.*545G>C (n.*545G>C) c.*472G>C (n.*472G>C) c.405G>C (p.Trp135Cys) c.558G>C (p.Trp186Cys) c.738G>C (p.Trp246Cys) | |
| 7 | g.117535316G= | CA1737362146 | CFTR | c.648G= (p.Trp216=) c.*545G= (n.*545G=) c.*472G= (n.*472G=) c.405G= (p.Trp135=) c.558G= (p.Trp186=) c.738G= (p.Trp246=) | |
| 7 | g.117535316G>T | CA327614 | CFTR | c.648G>T (p.Trp216Cys) c.*545G>T (n.*545G>T) c.*472G>T (n.*472G>T) c.405G>T (p.Trp135Cys) c.558G>T (p.Trp186Cys) c.738G>T (p.Trp246Cys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117535317G>A | CA368976950 | CFTR | c.649G>A (p.Glu217Lys) c.*546G>A (n.*546G>A) c.*473G>A (n.*473G>A) c.406G>A (p.Glu136Lys) c.559G>A (p.Glu187Lys) c.739G>A (p.Glu247Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117535317G>C | CA368976951 | CFTR | c.649G>C (p.Glu217Gln) c.*546G>C (n.*546G>C) c.*473G>C (n.*473G>C) c.406G>C (p.Glu136Gln) c.559G>C (p.Glu187Gln) c.739G>C (p.Glu247Gln) | |
| 7 | g.117535317G= | CA1737362147 | CFTR | c.649G= (p.Glu217=) c.*546G= (n.*546G=) c.*473G= (n.*473G=) c.406G= (p.Glu136=) c.559G= (p.Glu187=) c.739G= (p.Glu247=) | |
| 7 | g.117535317G>T | CA368976952 | CFTR | c.649G>T (p.Glu217Ter) c.*546G>T (n.*546G>T) c.*473G>T (n.*473G>T) c.406G>T (p.Glu136Ter) c.559G>T (p.Glu187Ter) c.739G>T (p.Glu247Ter) | gnomAD v4 |
| 7 | g.117535318A= | CA1737362148 | CFTR | c.650A= (p.Glu217=) c.*547A= (n.*547A=) c.*474A= (n.*474A=) c.407A= (p.Glu136=) c.560A= (p.Glu187=) c.740A= (p.Glu247=) | |
| 7 | g.117535318A>C | CA368976953 | CFTR | c.650A>C (p.Glu217Ala) c.*547A>C (n.*547A>C) c.*474A>C (n.*474A>C) c.407A>C (p.Glu136Ala) c.560A>C (p.Glu187Ala) c.740A>C (p.Glu247Ala) | |
| 7 | g.117535318A>G | CA254120 | CFTR | c.650A>G (p.Glu217Gly) c.*547A>G (n.*547A>G) c.*474A>G (n.*474A>G) c.407A>G (p.Glu136Gly) c.560A>G (p.Glu187Gly) c.740A>G (p.Glu247Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117535318A>T | CA368976954 | CFTR | c.650A>T (p.Glu217Val) c.*547A>T (n.*547A>T) c.*474A>T (n.*474A>T) c.407A>T (p.Glu136Val) c.560A>T (p.Glu187Val) c.740A>T (p.Glu247Val) | |
| 7 | g.117535318_117535327del | CA2695208301 | CFTR | c.650_659del (p.Glu217GlyfsTer11) c.*547_*556del (n.*547_*556del) c.*474_*483del (n.*474_*483del) c.407_416del (p.Glu136GlyfsTer11) c.560_569del (p.Glu187GlyfsTer11) c.740_749del (p.Glu247GlyfsTer11) | |
| 7 | g.117535319G>A | CA457227163 | CFTR | c.651G>A (p.Glu217=) c.*548G>A (n.*548G>A) c.*475G>A (n.*475G>A) c.408G>A (p.Glu136=) c.561G>A (p.Glu187=) c.741G>A (p.Glu247=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117535319G>C | CA368976956 | CFTR | c.651G>C (p.Glu217Asp) c.*548G>C (n.*548G>C) c.*475G>C (n.*475G>C) c.408G>C (p.Glu136Asp) c.561G>C (p.Glu187Asp) c.741G>C (p.Glu247Asp) | |
| 7 | g.117535319G= | CA1737362149 | CFTR | c.651G= (p.Glu217=) c.*548G= (n.*548G=) c.*475G= (n.*475G=) c.408G= (p.Glu136=) c.561G= (p.Glu187=) c.741G= (p.Glu247=) | |
| 7 | g.117535319G>T | CA368976955 | CFTR | c.651G>T (p.Glu217Asp) c.*548G>T (n.*548G>T) c.*475G>T (n.*475G>T) c.408G>T (p.Glu136Asp) c.561G>T (p.Glu187Asp) c.741G>T (p.Glu247Asp) | |
| 7 | g.117535320T>A | CA368976957 | CFTR | c.652T>A (p.Leu218Met) c.*549T>A (n.*549T>A) c.*476T>A (n.*476T>A) c.409T>A (p.Leu137Met) c.562T>A (p.Leu188Met) c.742T>A (p.Leu248Met) | |
| 7 | g.117535320T>C | CA457227164 | CFTR | c.652T>C (p.Leu218=) c.*549T>C (n.*549T>C) c.*476T>C (n.*476T>C) c.409T>C (p.Leu137=) c.562T>C (p.Leu188=) c.742T>C (p.Leu248=) | ClinVar dbSNP |
| 7 | g.117535320T>G | CA368976958 | CFTR | c.652T>G (p.Leu218Val) c.*549T>G (n.*549T>G) c.*476T>G (n.*476T>G) c.409T>G (p.Leu137Val) c.562T>G (p.Leu188Val) c.742T>G (p.Leu248Val) | dbSNP |
| 7 | g.117535320T= | CA1737362150 | CFTR | c.652T= (p.Leu218=) c.*549T= (n.*549T=) c.*476T= (n.*476T=) c.409T= (p.Leu137=) c.562T= (p.Leu188=) c.742T= (p.Leu248=) | |
| 7 | g.117535321T>A | CA327616 | CFTR | c.653T>A (p.Leu218Ter) c.*550T>A (n.*550T>A) c.*477T>A (n.*477T>A) c.410T>A (p.Leu137Ter) c.563T>A (p.Leu188Ter) c.743T>A (p.Leu248Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117535321T>C | CA368976959 | CFTR | c.653T>C (p.Leu218Ser) c.*550T>C (n.*550T>C) c.*477T>C (n.*477T>C) c.410T>C (p.Leu137Ser) c.563T>C (p.Leu188Ser) c.743T>C (p.Leu248Ser) | |
| 7 | g.117535321T>G | CA368976960 | CFTR | c.653T>G (p.Leu218Trp) c.*550T>G (n.*550T>G) c.*477T>G (n.*477T>G) c.410T>G (p.Leu137Trp) c.563T>G (p.Leu188Trp) c.743T>G (p.Leu248Trp) | |
| 7 | g.117535321T= | CA1737362151 | CFTR | c.653T= (p.Leu218=) c.*550T= (n.*550T=) c.*477T= (n.*477T=) c.410T= (p.Leu137=) c.563T= (p.Leu188=) c.743T= (p.Leu248=) | |
| 7 | g.117535322G>A | CA457227168 | CFTR | c.654G>A (p.Leu218=) c.*551G>A (n.*551G>A) c.*478G>A (n.*478G>A) c.411G>A (p.Leu137=) c.564G>A (p.Leu188=) c.744G>A (p.Leu248=) | |
| 7 | g.117535322G>C | CA368976961 | CFTR | c.654G>C (p.Leu218Phe) c.*551G>C (n.*551G>C) c.*478G>C (n.*478G>C) c.411G>C (p.Leu137Phe) c.564G>C (p.Leu188Phe) c.744G>C (p.Leu248Phe) | |
| 7 | g.117535322G>T | CA368976962 | CFTR | c.654G>T (p.Leu218Phe) c.*551G>T (n.*551G>T) c.*478G>T (n.*478G>T) c.411G>T (p.Leu137Phe) c.564G>T (p.Leu188Phe) c.744G>T (p.Leu248Phe) | |
| 7 | g.117535322_117535323delinsGT | CA1737362152 | CFTR | c.654_655delinsGT (p.Leu218=) c.*551_*552delinsGT (n.*551_*552delinsGT) c.*478_*479delinsGT (n.*478_*479delinsGT) c.411_412delinsGT (p.Leu137=) c.564_565delinsGT (p.Leu188=) c.744_745delinsGT (p.Leu248=) | |
| 7 | g.117535323T>A | CA368976963 | CFTR | c.655T>A (p.Leu219Ile) c.*552T>A (n.*552T>A) c.*479T>A (n.*479T>A) c.412T>A (p.Leu138Ile) c.565T>A (p.Leu189Ile) c.745T>A (p.Leu249Ile) | |
| 7 | g.117535323T>C | CA457227169 | CFTR | c.655T>C (p.Leu219=) c.*552T>C (n.*552T>C) c.*479T>C (n.*479T>C) c.412T>C (p.Leu138=) c.565T>C (p.Leu189=) c.745T>C (p.Leu249=) | ClinVar gnomAD v4 |
| 7 | g.117535323T>G | CA368976964 | CFTR | c.655T>G (p.Leu219Val) c.*552T>G (n.*552T>G) c.*479T>G (n.*479T>G) c.412T>G (p.Leu138Val) c.565T>G (p.Leu189Val) c.745T>G (p.Leu249Val) | |
| 7 | g.117535324dup | CA913111892 | CFTR | c.656dup (p.Leu219PhefsTer?) c.*553dup (n.*553dup) c.*480dup (n.*480dup) c.413dup (p.Leu138PhefsTer?) c.566dup (p.Leu189PhefsTer?) c.746dup (p.Leu249PhefsTer?) | |
| 7 | g.117535324del | CA577680176 | CFTR | c.656del (p.Leu219TyrfsTer12) c.*553del (n.*553del) c.*480del (n.*480del) c.413del (p.Leu138TyrfsTer12) c.566del (p.Leu189TyrfsTer12) c.746del (p.Leu249TyrfsTer12) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117535324T>A | CA368976967 | CFTR | c.656T>A (p.Leu219Ter) c.*553T>A (n.*553T>A) c.*480T>A (n.*480T>A) c.413T>A (p.Leu138Ter) c.566T>A (p.Leu189Ter) c.746T>A (p.Leu249Ter) | |
| 7 | g.117535324T>C | CA368976965 | CFTR | c.656T>C (p.Leu219Ser) c.*553T>C (n.*553T>C) c.*480T>C (n.*480T>C) c.413T>C (p.Leu138Ser) c.566T>C (p.Leu189Ser) c.746T>C (p.Leu249Ser) | |
| 7 | g.117535324T>G | CA368976966 | CFTR | c.656T>G (p.Leu219Ter) c.*553T>G (n.*553T>G) c.*480T>G (n.*480T>G) c.413T>G (p.Leu138Ter) c.566T>G (p.Leu189Ter) c.746T>G (p.Leu249Ter) | |
| 7 | g.117535324T= | CA1737362153 | CFTR | c.656T= (p.Leu219=) c.*553T= (n.*553T=) c.*480T= (n.*480T=) c.413T= (p.Leu138=) c.566T= (p.Leu189=) c.746T= (p.Leu249=) | |
| 7 | g.117535325A= | CA1737362154 | CFTR | c.657A= (p.Leu219=) c.*554A= (n.*554A=) c.*481A= (n.*481A=) c.414A= (p.Leu138=) c.567A= (p.Leu189=) c.747A= (p.Leu249=) | |
| 7 | g.117535325A>C | CA368976968 | CFTR | c.657A>C (p.Leu219Phe) c.*554A>C (n.*554A>C) c.*481A>C (n.*481A>C) c.414A>C (p.Leu138Phe) c.567A>C (p.Leu189Phe) c.747A>C (p.Leu249Phe) | |
| 7 | g.117535325A>G | CA457227170 | CFTR | c.657A>G (p.Leu219=) c.*554A>G (n.*554A>G) c.*481A>G (n.*481A>G) c.414A>G (p.Leu138=) c.567A>G (p.Leu189=) c.747A>G (p.Leu249=) | ClinVar dbSNP |
| 7 | g.117535325A>T | CA368976969 | CFTR | c.657A>T (p.Leu219Phe) c.*554A>T (n.*554A>T) c.*481A>T (n.*481A>T) c.414A>T (p.Leu138Phe) c.567A>T (p.Leu189Phe) c.747A>T (p.Leu249Phe) | |
| 7 | g.117535325dup | CA658821274 | CFTR | c.657dup (p.Gln220ThrfsTer?) c.*554dup (n.*554dup) c.*481dup (n.*481dup) c.414dup (p.Gln139ThrfsTer?) c.567dup (p.Gln190ThrfsTer?) c.747dup (p.Gln250ThrfsTer?) | ClinVar dbSNP |
| 7 | g.117535326C>A | CA368976970 | CFTR | c.658C>A (p.Gln220Lys) c.*555C>A (n.*555C>A) c.*482C>A (n.*482C>A) c.415C>A (p.Gln139Lys) c.568C>A (p.Gln190Lys) c.748C>A (p.Gln250Lys) | |
| 7 | g.117535326C= | CA1737362155 | CFTR | c.658C= (p.Gln220=) c.*555C= (n.*555C=) c.*482C= (n.*482C=) c.415C= (p.Gln139=) c.568C= (p.Gln190=) c.748C= (p.Gln250=) | |
| 7 | g.117535326C>G | CA368976971 | CFTR | c.658C>G (p.Gln220Glu) c.*555C>G (n.*555C>G) c.*482C>G (n.*482C>G) c.415C>G (p.Gln139Glu) c.568C>G (p.Gln190Glu) c.748C>G (p.Gln250Glu) | gnomAD v4 |
| 7 | g.117535326C>T | CA328131 | CFTR | c.658C>T (p.Gln220Ter) c.*555C>T (n.*555C>T) c.*482C>T (n.*482C>T) c.415C>T (p.Gln139Ter) c.568C>T (p.Gln190Ter) c.748C>T (p.Gln250Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117535327A= | CA1737362156 | CFTR | c.659A= (p.Gln220=) c.*556A= (n.*556A=) c.*483A= (n.*483A=) c.416A= (p.Gln139=) c.569A= (p.Gln190=) c.749A= (p.Gln250=) | |
| 7 | g.117535327A>C | CA368976973 | CFTR | c.659A>C (p.Gln220Pro) c.*556A>C (n.*556A>C) c.*483A>C (n.*483A>C) c.416A>C (p.Gln139Pro) c.569A>C (p.Gln190Pro) c.749A>C (p.Gln250Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117535327A>G | CA327618 | CFTR | c.659A>G (p.Gln220Arg) c.*556A>G (n.*556A>G) c.*483A>G (n.*483A>G) c.416A>G (p.Gln139Arg) c.569A>G (p.Gln190Arg) c.749A>G (p.Gln250Arg) | dbSNP |
| 7 | g.117535327A>T | CA368976972 | CFTR | c.659A>T (p.Gln220Leu) c.*556A>T (n.*556A>T) c.*483A>T (n.*483A>T) c.416A>T (p.Gln139Leu) c.569A>T (p.Gln190Leu) c.749A>T (p.Gln250Leu) | gnomAD v4 |
| 7 | g.117535328G>A | CA4450794 | CFTR | c.660G>A (p.Gln220=) c.*557G>A (n.*557G>A) c.*484G>A (n.*484G>A) c.417G>A (p.Gln139=) c.570G>A (p.Gln190=) c.750G>A (p.Gln250=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117535328G>C | CA368976975 | CFTR | c.660G>C (p.Gln220His) c.*557G>C (n.*557G>C) c.*484G>C (n.*484G>C) c.417G>C (p.Gln139His) c.570G>C (p.Gln190His) c.750G>C (p.Gln250His) | |
| 7 | g.117535328G= | CA1737362157 | CFTR | c.660G= (p.Gln220=) c.*557G= (n.*557G=) c.*484G= (n.*484G=) c.417G= (p.Gln139=) c.570G= (p.Gln190=) c.750G= (p.Gln250=) | |
| 7 | g.117535328G>T | CA368976976 | CFTR | c.660G>T (p.Gln220His) c.*557G>T (n.*557G>T) c.*484G>T (n.*484G>T) c.417G>T (p.Gln139His) c.570G>T (p.Gln190His) c.750G>T (p.Gln250His) | |
| 7 | g.117535329G>A | CA368976978 | CFTR | c.661G>A (p.Ala221Thr) c.*558G>A (n.*558G>A) c.*485G>A (n.*485G>A) c.418G>A (p.Ala140Thr) c.571G>A (p.Ala191Thr) c.751G>A (p.Ala251Thr) | gnomAD v4 |
| 7 | g.117535329G>C | CA368976979 | CFTR | c.661G>C (p.Ala221Pro) c.*558G>C (n.*558G>C) c.*485G>C (n.*485G>C) c.418G>C (p.Ala140Pro) c.571G>C (p.Ala191Pro) c.751G>C (p.Ala251Pro) | ClinVar |
| 7 | g.117535329G>T | CA368976981 | CFTR | c.661G>T (p.Ala221Ser) c.*558G>T (n.*558G>T) c.*485G>T (n.*485G>T) c.418G>T (p.Ala140Ser) c.571G>T (p.Ala191Ser) c.751G>T (p.Ala251Ser) | |
| 7 | g.117535330del | CA2573141540 | CFTR | c.662del (p.Ala221GlyfsTer10) c.*559del (n.*559del) c.*486del (n.*486del) c.419del (p.Ala140GlyfsTer10) c.572del (p.Ala191GlyfsTer10) c.752del (p.Ala251GlyfsTer10) | ClinVar dbSNP |
| 7 | g.117535330C>A | CA368976982 | CFTR | c.662C>A (p.Ala221Glu) c.*559C>A (n.*559C>A) c.*486C>A (n.*486C>A) c.419C>A (p.Ala140Glu) c.572C>A (p.Ala191Glu) c.752C>A (p.Ala251Glu) | ClinVar dbSNP |
| 7 | g.117535330C= | CA1737362158 | CFTR | c.662C= (p.Ala221=) c.*559C= (n.*559C=) c.*486C= (n.*486C=) c.419C= (p.Ala140=) c.572C= (p.Ala191=) c.752C= (p.Ala251=) | |
| 7 | g.117535330C>G | CA368976983 | CFTR | c.662C>G (p.Ala221Gly) c.*559C>G (n.*559C>G) c.*486C>G (n.*486C>G) c.419C>G (p.Ala140Gly) c.572C>G (p.Ala191Gly) c.752C>G (p.Ala251Gly) | ClinVar |
| 7 | g.117535330C>T | CA4450795 | CFTR | c.662C>T (p.Ala221Val) c.*559C>T (n.*559C>T) c.*486C>T (n.*486C>T) c.419C>T (p.Ala140Val) c.572C>T (p.Ala191Val) c.752C>T (p.Ala251Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 7 | g.117535331G>A | CA4450796 | CFTR | c.663G>A (p.Ala221=) c.*560G>A (n.*560G>A) c.*487G>A (n.*487G>A) c.420G>A (p.Ala140=) c.573G>A (p.Ala191=) c.753G>A (p.Ala251=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117535331G>C | CA457227177 | CFTR | c.663G>C (p.Ala221=) c.*560G>C (n.*560G>C) c.*487G>C (n.*487G>C) c.420G>C (p.Ala140=) c.573G>C (p.Ala191=) c.753G>C (p.Ala251=) | |
| 7 | g.117535331G= | CA1737362159 | CFTR | c.663G= (p.Ala221=) c.*560G= (n.*560G=) c.*487G= (n.*487G=) c.420G= (p.Ala140=) c.573G= (p.Ala191=) c.753G= (p.Ala251=) | |
| 7 | g.117535331G>T | CA457227178 | CFTR | c.663G>T (p.Ala221=) c.*560G>T (n.*560G>T) c.*487G>T (n.*487G>T) c.420G>T (p.Ala140=) c.573G>T (p.Ala191=) c.753G>T (p.Ala251=) | ClinVar |
| 7 | g.117535332T>A | CA368976986 | CFTR | c.664T>A (p.Ser222Thr) c.*561T>A (n.*561T>A) c.*488T>A (n.*488T>A) c.421T>A (p.Ser141Thr) c.574T>A (p.Ser192Thr) c.754T>A (p.Ser252Thr) | |
| 7 | g.117535332T>C | CA368976987 | CFTR | c.664T>C (p.Ser222Pro) c.*561T>C (n.*561T>C) c.*488T>C (n.*488T>C) c.421T>C (p.Ser141Pro) c.574T>C (p.Ser192Pro) c.754T>C (p.Ser252Pro) | |
| 7 | g.117535332T>G | CA368976989 | CFTR | c.664T>G (p.Ser222Ala) c.*561T>G (n.*561T>G) c.*488T>G (n.*488T>G) c.421T>G (p.Ser141Ala) c.574T>G (p.Ser192Ala) c.754T>G (p.Ser252Ala) | |
| 7 | g.117535333C>A | CA368976990 | CFTR | c.665C>A (p.Ser222Tyr) c.*562C>A (n.*562C>A) c.*489C>A (n.*489C>A) c.422C>A (p.Ser141Tyr) c.575C>A (p.Ser192Tyr) c.755C>A (p.Ser252Tyr) | |
| 7 | g.117535333C>G | CA368976993 | CFTR | c.665C>G (p.Ser222Cys) c.*562C>G (n.*562C>G) c.*489C>G (n.*489C>G) c.422C>G (p.Ser141Cys) c.575C>G (p.Ser192Cys) c.755C>G (p.Ser252Cys) | dbSNP |
| 7 | g.117535333C>T | CA368976991 | CFTR | c.665C>T (p.Ser222Phe) c.*562C>T (n.*562C>T) c.*489C>T (n.*489C>T) c.422C>T (p.Ser141Phe) c.575C>T (p.Ser192Phe) c.755C>T (p.Ser252Phe) | |
| 7 | g.117535334T>A | CA457227180 | CFTR | c.666T>A (p.Ser222=) c.*563T>A (n.*563T>A) c.*490T>A (n.*490T>A) c.423T>A (p.Ser141=) c.576T>A (p.Ser192=) c.756T>A (p.Ser252=) | |
| 7 | g.117535334T>C | CA4450797 | CFTR | c.666T>C (p.Ser222=) c.*563T>C (n.*563T>C) c.*490T>C (n.*490T>C) c.423T>C (p.Ser141=) c.576T>C (p.Ser192=) c.756T>C (p.Ser252=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117535334T>G | CA457227179 | CFTR | c.666T>G (p.Ser222=) c.*563T>G (n.*563T>G) c.*490T>G (n.*490T>G) c.423T>G (p.Ser141=) c.576T>G (p.Ser192=) c.756T>G (p.Ser252=) | |
| 7 | g.117535334T= | CA1737362160 | CFTR | c.666T= (p.Ser222=) c.*563T= (n.*563T=) c.*490T= (n.*490T=) c.423T= (p.Ser141=) c.576T= (p.Ser192=) c.756T= (p.Ser252=) | |
| 7 | g.117535335G>A | CA368976996 | CFTR | c.667G>A (p.Ala223Thr) c.*564G>A (n.*564G>A) c.*491G>A (n.*491G>A) c.424G>A (p.Ala142Thr) c.577G>A (p.Ala193Thr) c.757G>A (p.Ala253Thr) | |
| 7 | g.117535335G>C | CA368976997 | CFTR | c.667G>C (p.Ala223Pro) c.*564G>C (n.*564G>C) c.*491G>C (n.*491G>C) c.424G>C (p.Ala142Pro) c.577G>C (p.Ala193Pro) c.757G>C (p.Ala253Pro) | |
| 7 | g.117535335G>T | CA368976998 | CFTR | c.667G>T (p.Ala223Ser) c.*564G>T (n.*564G>T) c.*491G>T (n.*491G>T) c.424G>T (p.Ala142Ser) c.577G>T (p.Ala193Ser) c.757G>T (p.Ala253Ser) | ClinVar |
| 7 | g.117535336C>A | CA368976999 | CFTR | c.668C>A (p.Ala223Asp) c.*565C>A (n.*565C>A) c.*492C>A (n.*492C>A) c.425C>A (p.Ala142Asp) c.578C>A (p.Ala193Asp) c.758C>A (p.Ala253Asp) | |
| 7 | g.117535336C>G | CA368977000 | CFTR | c.668C>G (p.Ala223Gly) c.*565C>G (n.*565C>G) c.*492C>G (n.*492C>G) c.425C>G (p.Ala142Gly) c.578C>G (p.Ala193Gly) c.758C>G (p.Ala253Gly) | |
| 7 | g.117535336C>T | CA368977001 | CFTR | c.668C>T (p.Ala223Val) c.*565C>T (n.*565C>T) c.*492C>T (n.*492C>T) c.425C>T (p.Ala142Val) c.578C>T (p.Ala193Val) c.758C>T (p.Ala253Val) | ClinVar gnomAD v4 |
| 7 | g.117535337C>A | CA457227181 | CFTR | c.669C>A (p.Ala223=) c.*566C>A (n.*566C>A) c.*493C>A (n.*493C>A) c.426C>A (p.Ala142=) c.579C>A (p.Ala193=) c.759C>A (p.Ala253=) | COSMIC |
| 7 | g.117535337C>G | CA457227183 | CFTR | c.669C>G (p.Ala223=) c.*566C>G (n.*566C>G) c.*493C>G (n.*493C>G) c.426C>G (p.Ala142=) c.579C>G (p.Ala193=) c.759C>G (p.Ala253=) | ClinVar dbSNP |
| 7 | g.117535337C>T | CA457227182 | CFTR | c.669C>T (p.Ala223=) c.*566C>T (n.*566C>T) c.*493C>T (n.*493C>T) c.426C>T (p.Ala142=) c.579C>T (p.Ala193=) c.759C>T (p.Ala253=) | |
| 7 | g.117535337_117535338delinsCT | CA1737362161 | CFTR | c.669_670delinsCT (p.Ala223=) c.*566_*567delinsCT (n.*566_*567delinsCT) c.*493_*494delinsCT (n.*493_*494delinsCT) c.426_427delinsCT (p.Ala142=) c.579_580delinsCT (p.Ala193=) c.759_760delinsCT (p.Ala253=) | |
| 7 | g.117535338T>A | CA368977003 | CFTR | c.670T>A (p.Phe224Ile) c.*567T>A (n.*567T>A) c.*494T>A (n.*494T>A) c.427T>A (p.Phe143Ile) c.580T>A (p.Phe194Ile) c.760T>A (p.Phe254Ile) | |
| 7 | g.117535338T>C | CA368977005 | CFTR | c.670T>C (p.Phe224Leu) c.*567T>C (n.*567T>C) c.*494T>C (n.*494T>C) c.427T>C (p.Phe143Leu) c.580T>C (p.Phe194Leu) c.760T>C (p.Phe254Leu) | ClinVar gnomAD v4 |
| 7 | g.117535338T>G | CA368977006 | CFTR | c.670T>G (p.Phe224Val) c.*567T>G (n.*567T>G) c.*494T>G (n.*494T>G) c.427T>G (p.Phe143Val) c.580T>G (p.Phe194Val) c.760T>G (p.Phe254Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117535338T= | CA1737362162 | CFTR | c.670T= (p.Phe224=) c.*567T= (n.*567T=) c.*494T= (n.*494T=) c.427T= (p.Phe143=) c.580T= (p.Phe194=) c.760T= (p.Phe254=) | |
| 7 | g.117535339del | CA4450798 | CFTR | c.671del (p.Phe224SerfsTer7) c.*568del (n.*568del) c.*495del (n.*495del) c.428del (p.Phe143SerfsTer7) c.581del (p.Phe194SerfsTer7) c.761del (p.Phe254SerfsTer7) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117535339T>A | CA368977007 | CFTR | c.671T>A (p.Phe224Tyr) c.*568T>A (n.*568T>A) c.*495T>A (n.*495T>A) c.428T>A (p.Phe143Tyr) c.581T>A (p.Phe194Tyr) c.761T>A (p.Phe254Tyr) | |
| 7 | g.117535339T>C | CA368977008 | CFTR | c.671T>C (p.Phe224Ser) c.*568T>C (n.*568T>C) c.*495T>C (n.*495T>C) c.428T>C (p.Phe143Ser) c.581T>C (p.Phe194Ser) c.761T>C (p.Phe254Ser) | ClinVar |
| 7 | g.117535339T>G | CA368977010 | CFTR | c.671T>G (p.Phe224Cys) c.*568T>G (n.*568T>G) c.*495T>G (n.*495T>G) c.428T>G (p.Phe143Cys) c.581T>G (p.Phe194Cys) c.761T>G (p.Phe254Cys) | dbSNP |
| 7 | g.117535339T= | CA1737362163 | CFTR | c.671T= (p.Phe224=) c.*568T= (n.*568T=) c.*495T= (n.*495T=) c.428T= (p.Phe143=) c.581T= (p.Phe194=) c.761T= (p.Phe254=) | |
| 7 | g.117535339_117535342delinsTCTG | CA1737362164 | CFTR | c.671_674delinsTCTG (p.Phe224=) c.*568_*571delinsTCTG (n.*568_*571delinsTCTG) c.*495_*498delinsTCTG (n.*495_*498delinsTCTG) c.428_431delinsTCTG (p.Phe143=) c.581_584delinsTCTG (p.Phe194=) c.761_764delinsTCTG (p.Phe254=) | |
| 7 | g.117535340C>A | CA368977011 | CFTR | c.672C>A (p.Phe224Leu) c.*569C>A (n.*569C>A) c.*496C>A (n.*496C>A) c.429C>A (p.Phe143Leu) c.582C>A (p.Phe194Leu) c.762C>A (p.Phe254Leu) | |
| 7 | g.117535340C= | CA1737362166 | CFTR | c.672C= (p.Phe224=) c.*569C= (n.*569C=) c.*496C= (n.*496C=) c.429C= (p.Phe143=) c.582C= (p.Phe194=) c.762C= (p.Phe254=) | |
| 7 | g.117535340C>G | CA4450799 | CFTR | c.672C>G (p.Phe224Leu) c.*569C>G (n.*569C>G) c.*496C>G (n.*496C>G) c.429C>G (p.Phe143Leu) c.582C>G (p.Phe194Leu) c.762C>G (p.Phe254Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117535340C>T | CA457227188 | CFTR | c.672C>T (p.Phe224=) c.*569C>T (n.*569C>T) c.*496C>T (n.*496C>T) c.429C>T (p.Phe143=) c.582C>T (p.Phe194=) c.762C>T (p.Phe254=) | ClinVar |
| 7 | g.117535340_117535342del | CA1737362165 | CFTR | c.672_674del (p.Cys225del) c.*569_*571del (n.*569_*571del) c.*496_*498del (n.*496_*498del) c.429_431del (p.Cys144del) c.582_584del (p.Cys195del) c.762_764del (p.Cys255del) | dbSNP |
| 7 | g.117535341T>A | CA368977013 | CFTR | c.673T>A (p.Cys225Ser) c.*570T>A (n.*570T>A) c.*497T>A (n.*497T>A) c.430T>A (p.Cys144Ser) c.583T>A (p.Cys195Ser) c.763T>A (p.Cys255Ser) | |
| 7 | g.117535341T>C | CA327620 | CFTR | c.673T>C (p.Cys225Arg) c.*570T>C (n.*570T>C) c.*497T>C (n.*497T>C) c.430T>C (p.Cys144Arg) c.583T>C (p.Cys195Arg) c.763T>C (p.Cys255Arg) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117535341T>G | CA368977015 | CFTR | c.673T>G (p.Cys225Gly) c.*570T>G (n.*570T>G) c.*497T>G (n.*497T>G) c.430T>G (p.Cys144Gly) c.583T>G (p.Cys195Gly) c.763T>G (p.Cys255Gly) | |
| 7 | g.117535341T= | CA1737362167 | CFTR | c.673T= (p.Cys225=) c.*570T= (n.*570T=) c.*497T= (n.*497T=) c.430T= (p.Cys144=) c.583T= (p.Cys195=) c.763T= (p.Cys255=) | |
| 7 | g.117535342G>A | CA164945642 | CFTR | c.674G>A (p.Cys225Tyr) c.*571G>A (n.*571G>A) c.*498G>A (n.*498G>A) c.431G>A (p.Cys144Tyr) c.584G>A (p.Cys195Tyr) c.764G>A (p.Cys255Tyr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117535342G>C | CA368977017 | CFTR | c.674G>C (p.Cys225Ser) c.*571G>C (n.*571G>C) c.*498G>C (n.*498G>C) c.431G>C (p.Cys144Ser) c.584G>C (p.Cys195Ser) c.764G>C (p.Cys255Ser) | |
| 7 | g.117535342G= | CA1737362168 | CFTR | c.674G= (p.Cys225=) c.*571G= (n.*571G=) c.*498G= (n.*498G=) c.431G= (p.Cys144=) c.584G= (p.Cys195=) c.764G= (p.Cys255=) | |
| 7 | g.117535342G>T | CA368977019 | CFTR | c.674G>T (p.Cys225Phe) c.*571G>T (n.*571G>T) c.*498G>T (n.*498G>T) c.431G>T (p.Cys144Phe) c.584G>T (p.Cys195Phe) c.764G>T (p.Cys255Phe) | |
| 7 | g.117535343T>A | CA327621 | CFTR | c.675T>A (p.Cys225Ter) c.*572T>A (n.*572T>A) c.*499T>A (n.*499T>A) c.432T>A (p.Cys144Ter) c.585T>A (p.Cys195Ter) c.765T>A (p.Cys255Ter) | ClinVar dbSNP |
| 7 | g.117535343T>C | CA457227190 | CFTR | c.675T>C (p.Cys225=) c.*572T>C (n.*572T>C) c.*499T>C (n.*499T>C) c.432T>C (p.Cys144=) c.585T>C (p.Cys195=) c.765T>C (p.Cys255=) | ClinVar |
| 7 | g.117535343T>G | CA368977020 | CFTR | c.675T>G (p.Cys225Trp) c.*572T>G (n.*572T>G) c.*499T>G (n.*499T>G) c.432T>G (p.Cys144Trp) c.585T>G (p.Cys195Trp) c.765T>G (p.Cys255Trp) | |
| 7 | g.117535343T= | CA1737362169 | CFTR | c.675T= (p.Cys225=) c.*572T= (n.*572T=) c.*499T= (n.*499T=) c.432T= (p.Cys144=) c.585T= (p.Cys195=) c.765T= (p.Cys255=) | |
| 7 | g.117535344G>A | CA368977021 | CFTR | c.676G>A (p.Gly226Arg) c.*573G>A (n.*573G>A) c.*500G>A (n.*500G>A) c.433G>A (p.Gly145Arg) c.586G>A (p.Gly196Arg) c.766G>A (p.Gly256Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117535344G>C | CA368977022 | CFTR | c.676G>C (p.Gly226Arg) c.*573G>C (n.*573G>C) c.*500G>C (n.*500G>C) c.433G>C (p.Gly145Arg) c.586G>C (p.Gly196Arg) c.766G>C (p.Gly256Arg) | ClinVar dbSNP |
| 7 | g.117535344G= | CA1737362170 | CFTR | c.676G= (p.Gly226=) c.*573G= (n.*573G=) c.*500G= (n.*500G=) c.433G= (p.Gly145=) c.586G= (p.Gly196=) c.766G= (p.Gly256=) | |
| 7 | g.117535344G>T | CA368977024 | CFTR | c.676G>T (p.Gly226Ter) c.*573G>T (n.*573G>T) c.*500G>T (n.*500G>T) c.433G>T (p.Gly145Ter) c.586G>T (p.Gly196Ter) c.766G>T (p.Gly256Ter) | |
| 7 | g.117535345G>A | CA4450800 | CFTR | c.677G>A (p.Gly226Glu) c.*574G>A (n.*574G>A) c.*501G>A (n.*501G>A) c.434G>A (p.Gly145Glu) c.587G>A (p.Gly196Glu) c.767G>A (p.Gly256Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117535345G>C | CA368977028 | CFTR | c.677G>C (p.Gly226Ala) c.*574G>C (n.*574G>C) c.*501G>C (n.*501G>C) c.434G>C (p.Gly145Ala) c.587G>C (p.Gly196Ala) c.767G>C (p.Gly256Ala) | |
| 7 | g.117535345G= | CA1737362171 | CFTR | c.677G= (p.Gly226=) c.*574G= (n.*574G=) c.*501G= (n.*501G=) c.434G= (p.Gly145=) c.587G= (p.Gly196=) c.767G= (p.Gly256=) | |
| 7 | g.117535345G>T | CA368977026 | CFTR | c.677G>T (p.Gly226Val) c.*574G>T (n.*574G>T) c.*501G>T (n.*501G>T) c.434G>T (p.Gly145Val) c.587G>T (p.Gly196Val) c.767G>T (p.Gly256Val) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117535346A= | CA1737362172 | CFTR | c.678A= (p.Gly226=) c.*575A= (n.*575A=) c.*502A= (n.*502A=) c.435A= (p.Gly145=) c.588A= (p.Gly196=) c.768A= (p.Gly256=) | |
| 7 | g.117535346A>C | CA457227197 | CFTR | c.678A>C (p.Gly226=) c.*575A>C (n.*575A>C) c.*502A>C (n.*502A>C) c.435A>C (p.Gly145=) c.588A>C (p.Gly196=) c.768A>C (p.Gly256=) | |
| 7 | g.117535346A>G | CA457227194 | CFTR | c.678A>G (p.Gly226=) c.*575A>G (n.*575A>G) c.*502A>G (n.*502A>G) c.435A>G (p.Gly145=) c.588A>G (p.Gly196=) c.768A>G (p.Gly256=) | |
| 7 | g.117535346A>T | CA457227191 | CFTR | c.678A>T (p.Gly226=) c.*575A>T (n.*575A>T) c.*502A>T (n.*502A>T) c.435A>T (p.Gly145=) c.588A>T (p.Gly196=) c.768A>T (p.Gly256=) | ClinVar dbSNP |
| 7 | g.117535347C>A | CA368977030 | CFTR | c.679C>A (p.Leu227Ile) c.*576C>A (n.*576C>A) c.*503C>A (n.*503C>A) c.436C>A (p.Leu146Ile) c.589C>A (p.Leu197Ile) c.769C>A (p.Leu257Ile) | |
| 7 | g.117535347C>G | CA368977031 | CFTR | c.679C>G (p.Leu227Val) c.*576C>G (n.*576C>G) c.*503C>G (n.*503C>G) c.436C>G (p.Leu146Val) c.589C>G (p.Leu197Val) c.769C>G (p.Leu257Val) | |
| 7 | g.117535347C>T | CA368977033 | CFTR | c.679C>T (p.Leu227Phe) c.*576C>T (n.*576C>T) c.*503C>T (n.*503C>T) c.436C>T (p.Leu146Phe) c.589C>T (p.Leu197Phe) c.769C>T (p.Leu257Phe) | |
| 7 | g.117535348T>A | CA368977034 | CFTR | c.680T>A (p.Leu227His) c.*577T>A (n.*577T>A) c.*504T>A (n.*504T>A) c.437T>A (p.Leu146His) c.590T>A (p.Leu197His) c.770T>A (p.Leu257His) | gnomAD v4 |
| 7 | g.117535348T>C | CA368977035 | CFTR | c.680T>C (p.Leu227Pro) c.*577T>C (n.*577T>C) c.*504T>C (n.*504T>C) c.437T>C (p.Leu146Pro) c.590T>C (p.Leu197Pro) c.770T>C (p.Leu257Pro) | gnomAD v4 |
| 7 | g.117535348T>G | CA327623 | CFTR | c.680T>G (p.Leu227Arg) c.*577T>G (n.*577T>G) c.*504T>G (n.*504T>G) c.437T>G (p.Leu146Arg) c.590T>G (p.Leu197Arg) c.770T>G (p.Leu257Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117535348T= | CA1737362173 | CFTR | c.680T= (p.Leu227=) c.*577T= (n.*577T=) c.*504T= (n.*504T=) c.437T= (p.Leu146=) c.590T= (p.Leu197=) c.770T= (p.Leu257=) | |
| 7 | g.117535348_117535350del | CA2580076371 | CFTR | c.680_682del (p.Leu227_Gly228delinsArg) c.*577_*579del (n.*577_*579del) c.*504_*506del (n.*504_*506del) c.437_439del (p.Leu146_Gly147delinsArg) c.590_592del (p.Leu197_Gly198delinsArg) c.770_772del (p.Leu257_Gly258delinsArg) | ClinVar |
| 7 | g.117535349T>A | CA457227200 | CFTR | c.681T>A (p.Leu227=) c.*578T>A (n.*578T>A) c.*505T>A (n.*505T>A) c.438T>A (p.Leu146=) c.591T>A (p.Leu197=) c.771T>A (p.Leu257=) | |
| 7 | g.117535349T>C | CA457227201 | CFTR | c.681T>C (p.Leu227=) c.*578T>C (n.*578T>C) c.*505T>C (n.*505T>C) c.438T>C (p.Leu146=) c.591T>C (p.Leu197=) c.771T>C (p.Leu257=) | |
| 7 | g.117535349T>G | CA457227202 | CFTR | c.681T>G (p.Leu227=) c.*578T>G (n.*578T>G) c.*505T>G (n.*505T>G) c.438T>G (p.Leu146=) c.591T>G (p.Leu197=) c.771T>G (p.Leu257=) | |
| 7 | g.117535350G>A | CA368977037 | CFTR | c.682G>A (p.Gly228Ser) c.*579G>A (n.*579G>A) c.*506G>A (n.*506G>A) c.439G>A (p.Gly147Ser) c.592G>A (p.Gly198Ser) c.772G>A (p.Gly258Ser) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117535350G>C | CA368977038 | CFTR | c.682G>C (p.Gly228Arg) c.*579G>C (n.*579G>C) c.*506G>C (n.*506G>C) c.439G>C (p.Gly147Arg) c.592G>C (p.Gly198Arg) c.772G>C (p.Gly258Arg) | |
| 7 | g.117535350G= | CA1737362174 | CFTR | c.682G= (p.Gly228=) c.*579G= (n.*579G=) c.*506G= (n.*506G=) c.439G= (p.Gly147=) c.592G= (p.Gly198=) c.772G= (p.Gly258=) | |
| 7 | g.117535350G>T | CA368977040 | CFTR | c.682G>T (p.Gly228Cys) c.*579G>T (n.*579G>T) c.*506G>T (n.*506G>T) c.439G>T (p.Gly147Cys) c.592G>T (p.Gly198Cys) c.772G>T (p.Gly258Cys) | ClinVar dbSNP |
| 7 | g.117535351G>A | CA368977041 | CFTR | c.683G>A (p.Gly228Asp) c.*580G>A (n.*580G>A) c.*507G>A (n.*507G>A) c.440G>A (p.Gly147Asp) c.593G>A (p.Gly198Asp) c.773G>A (p.Gly258Asp) | ClinVar |
| 7 | g.117535351G>C | CA368977042 | CFTR | c.683G>C (p.Gly228Ala) c.*580G>C (n.*580G>C) c.*507G>C (n.*507G>C) c.440G>C (p.Gly147Ala) c.593G>C (p.Gly198Ala) c.773G>C (p.Gly258Ala) | |
| 7 | g.117535351G>T | CA368977043 | CFTR | c.683G>T (p.Gly228Val) c.*580G>T (n.*580G>T) c.*507G>T (n.*507G>T) c.440G>T (p.Gly147Val) c.593G>T (p.Gly198Val) c.773G>T (p.Gly258Val) | |
| 7 | g.117535352T>A | CA457227205 | CFTR | c.684T>A (p.Gly228=) c.*581T>A (n.*581T>A) c.*508T>A (n.*508T>A) c.441T>A (p.Gly147=) c.594T>A (p.Gly198=) c.774T>A (p.Gly258=) | |
| 7 | g.117535352T>C | CA4450801 | CFTR | c.684T>C (p.Gly228=) c.*581T>C (n.*581T>C) c.*508T>C (n.*508T>C) c.441T>C (p.Gly147=) c.594T>C (p.Gly198=) c.774T>C (p.Gly258=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117535352T>G | CA457227206 | CFTR | c.684T>G (p.Gly228=) c.*581T>G (n.*581T>G) c.*508T>G (n.*508T>G) c.441T>G (p.Gly147=) c.594T>G (p.Gly198=) c.774T>G (p.Gly258=) | dbSNP |
| 7 | g.117535352T= | CA1737362175 | CFTR | c.684T= (p.Gly228=) c.*581T= (n.*581T=) c.*508T= (n.*508T=) c.441T= (p.Gly147=) c.594T= (p.Gly198=) c.774T= (p.Gly258=) | |
| 7 | g.117535353T>A | CA368977048 | CFTR | c.685T>A (p.Phe229Ile) c.*582T>A (n.*582T>A) c.*509T>A (n.*509T>A) c.442T>A (p.Phe148Ile) c.595T>A (p.Phe199Ile) c.775T>A (p.Phe259Ile) | |
| 7 | g.117535353T>C | CA368977046 | CFTR | c.685T>C (p.Phe229Leu) c.*582T>C (n.*582T>C) c.*509T>C (n.*509T>C) c.442T>C (p.Phe148Leu) c.595T>C (p.Phe199Leu) c.775T>C (p.Phe259Leu) | |
| 7 | g.117535353T>G | CA368977045 | CFTR | c.685T>G (p.Phe229Val) c.*582T>G (n.*582T>G) c.*509T>G (n.*509T>G) c.442T>G (p.Phe148Val) c.595T>G (p.Phe199Val) c.775T>G (p.Phe259Val) | |
| 7 | g.117535354T>A | CA368977049 | CFTR | c.686T>A (p.Phe229Tyr) c.*583T>A (n.*583T>A) c.*510T>A (n.*510T>A) c.443T>A (p.Phe148Tyr) c.596T>A (p.Phe199Tyr) c.776T>A (p.Phe259Tyr) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117535354T>C | CA368977051 | CFTR | c.686T>C (p.Phe229Ser) c.*583T>C (n.*583T>C) c.*510T>C (n.*510T>C) c.443T>C (p.Phe148Ser) c.596T>C (p.Phe199Ser) c.776T>C (p.Phe259Ser) | |
| 7 | g.117535354T>G | CA368977054 | CFTR | c.686T>G (p.Phe229Cys) c.*583T>G (n.*583T>G) c.*510T>G (n.*510T>G) c.443T>G (p.Phe148Cys) c.596T>G (p.Phe199Cys) c.776T>G (p.Phe259Cys) | |
| 7 | g.117535354T= | CA1737362176 | CFTR | c.686T= (p.Phe229=) c.*583T= (n.*583T=) c.*510T= (n.*510T=) c.443T= (p.Phe148=) c.596T= (p.Phe199=) c.776T= (p.Phe259=) | |
| 7 | g.117535355C>A | CA368977055 | CFTR | c.687C>A (p.Phe229Leu) c.*584C>A (n.*584C>A) c.*511C>A (n.*511C>A) c.444C>A (p.Phe148Leu) c.597C>A (p.Phe199Leu) c.777C>A (p.Phe259Leu) | |
| 7 | g.117535355C>G | CA368977056 | CFTR | c.687C>G (p.Phe229Leu) c.*584C>G (n.*584C>G) c.*511C>G (n.*511C>G) c.444C>G (p.Phe148Leu) c.597C>G (p.Phe199Leu) c.777C>G (p.Phe259Leu) | COSMIC |
| 7 | g.117535355C>T | CA457227207 | CFTR | c.687C>T (p.Phe229=) c.*584C>T (n.*584C>T) c.*511C>T (n.*511C>T) c.444C>T (p.Phe148=) c.597C>T (p.Phe199=) c.777C>T (p.Phe259=) | gnomAD v4 COSMIC |
| 7 | g.117535356C>A | CA368977057 | CFTR | c.688C>A (p.Leu230Met) c.*585C>A (n.*585C>A) c.*512C>A (n.*512C>A) c.445C>A (p.Leu149Met) c.598C>A (p.Leu200Met) c.778C>A (p.Leu260Met) | |
| 7 | g.117535356C= | CA1737362177 | CFTR | c.688C= (p.Leu230=) c.*585C= (n.*585C=) c.*512C= (n.*512C=) c.445C= (p.Leu149=) c.598C= (p.Leu200=) c.778C= (p.Leu260=) | |
| 7 | g.117535356C>G | CA164945654 | CFTR | c.688C>G (p.Leu230Val) c.*585C>G (n.*585C>G) c.*512C>G (n.*512C>G) c.445C>G (p.Leu149Val) c.598C>G (p.Leu200Val) c.778C>G (p.Leu260Val) | dbSNP |
| 7 | g.117535356C>T | CA457227208 | CFTR | c.688C>T (p.Leu230=) c.*585C>T (n.*585C>T) c.*512C>T (n.*512C>T) c.445C>T (p.Leu149=) c.598C>T (p.Leu200=) c.778C>T (p.Leu260=) | ClinVar dbSNP |
| 7 | g.117535357T>A | CA368977059 | CFTR | c.689T>A (p.Leu230Gln) c.*586T>A (n.*586T>A) c.*513T>A (n.*513T>A) c.446T>A (p.Leu149Gln) c.599T>A (p.Leu200Gln) c.779T>A (p.Leu260Gln) | |
| 7 | g.117535357T>C | CA368977061 | CFTR | c.689T>C (p.Leu230Pro) c.*586T>C (n.*586T>C) c.*513T>C (n.*513T>C) c.446T>C (p.Leu149Pro) c.599T>C (p.Leu200Pro) c.779T>C (p.Leu260Pro) | |
| 7 | g.117535357T>G | CA368977062 | CFTR | c.689T>G (p.Leu230Arg) c.*586T>G (n.*586T>G) c.*513T>G (n.*513T>G) c.446T>G (p.Leu149Arg) c.599T>G (p.Leu200Arg) c.779T>G (p.Leu260Arg) | |
| 7 | g.117535358G>A | CA457227209 | CFTR | c.690G>A (p.Leu230=) c.*587G>A (n.*587G>A) c.*514G>A (n.*514G>A) c.447G>A (p.Leu149=) c.600G>A (p.Leu200=) c.780G>A (p.Leu260=) | COSMIC |
| 7 | g.117535358G>C | CA457227210 | CFTR | c.690G>C (p.Leu230=) c.*587G>C (n.*587G>C) c.*514G>C (n.*514G>C) c.447G>C (p.Leu149=) c.600G>C (p.Leu200=) c.780G>C (p.Leu260=) | |
| 7 | g.117535358G>T | CA457227211 | CFTR | c.690G>T (p.Leu230=) c.*587G>T (n.*587G>T) c.*514G>T (n.*514G>T) c.447G>T (p.Leu149=) c.600G>T (p.Leu200=) c.780G>T (p.Leu260=) | |
| 7 | g.117535359A>C | CA368977064 | CFTR | c.691A>C (p.Ile231Leu) c.*588A>C (n.*588A>C) c.*515A>C (n.*515A>C) c.448A>C (p.Ile150Leu) c.601A>C (p.Ile201Leu) c.781A>C (p.Ile261Leu) | |
| 7 | g.117535359A>G | CA368977065 | CFTR | c.691A>G (p.Ile231Val) c.*588A>G (n.*588A>G) c.*515A>G (n.*515A>G) c.448A>G (p.Ile150Val) c.601A>G (p.Ile201Val) c.781A>G (p.Ile261Val) | |
| 7 | g.117535359A>T | CA368977067 | CFTR | c.691A>T (p.Ile231Leu) c.*588A>T (n.*588A>T) c.*515A>T (n.*515A>T) c.448A>T (p.Ile150Leu) c.601A>T (p.Ile201Leu) c.781A>T (p.Ile261Leu) | |
| 7 | g.117535360T>A | CA368977069 | CFTR | c.692T>A (p.Ile231Lys) c.*589T>A (n.*589T>A) c.*516T>A (n.*516T>A) c.449T>A (p.Ile150Lys) c.602T>A (p.Ile201Lys) c.782T>A (p.Ile261Lys) | |
| 7 | g.117535360T>C | CA368977071 | CFTR | c.692T>C (p.Ile231Thr) c.*589T>C (n.*589T>C) c.*516T>C (n.*516T>C) c.449T>C (p.Ile150Thr) c.602T>C (p.Ile201Thr) c.782T>C (p.Ile261Thr) | gnomAD v4 |
| 7 | g.117535360T>G | CA368977068 | CFTR | c.692T>G (p.Ile231Arg) c.*589T>G (n.*589T>G) c.*516T>G (n.*516T>G) c.449T>G (p.Ile150Arg) c.602T>G (p.Ile201Arg) c.782T>G (p.Ile261Arg) | ClinVar |