| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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) | 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=) | 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) |