UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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.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 |
| 7 | g.117535361A>C | CA457227214 | CFTR | c.693A>C (p.Ile231=) c.*590A>C (n.*590A>C) c.*517A>C (n.*517A>C) c.450A>C (p.Ile150=) c.603A>C (p.Ile201=) c.783A>C (p.Ile261=) | |
| 7 | g.117535361A>G | CA368977073 | CFTR | c.693A>G (p.Ile231Met) c.*590A>G (n.*590A>G) c.*517A>G (n.*517A>G) c.450A>G (p.Ile150Met) c.603A>G (p.Ile201Met) c.783A>G (p.Ile261Met) | |
| 7 | g.117535361A>T | CA457227215 | CFTR | c.693A>T (p.Ile231=) c.*590A>T (n.*590A>T) c.*517A>T (n.*517A>T) c.450A>T (p.Ile150=) c.603A>T (p.Ile201=) c.783A>T (p.Ile261=) | |
| 7 | g.117535362G>A | CA368977075 | CFTR | c.694G>A (p.Val232Ile) c.*591G>A (n.*591G>A) c.*518G>A (n.*518G>A) c.451G>A (p.Val151Ile) c.604G>A (p.Val202Ile) c.784G>A (p.Val262Ile) | |
| 7 | g.117535362G>C | CA368977076 | CFTR | c.694G>C (p.Val232Leu) c.*591G>C (n.*591G>C) c.*518G>C (n.*518G>C) c.451G>C (p.Val151Leu) c.604G>C (p.Val202Leu) c.784G>C (p.Val262Leu) | |
| 7 | g.117535362G>T | CA368977078 | CFTR | c.694G>T (p.Val232Phe) c.*591G>T (n.*591G>T) c.*518G>T (n.*518G>T) c.451G>T (p.Val151Phe) c.604G>T (p.Val202Phe) c.784G>T (p.Val262Phe) | |
| 7 | g.117535363T>A | CA327625 | CFTR | c.695T>A (p.Val232Asp) c.*592T>A (n.*592T>A) c.*519T>A (n.*519T>A) c.452T>A (p.Val151Asp) c.605T>A (p.Val202Asp) c.785T>A (p.Val262Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117535363T>C | CA368977080 | CFTR | c.695T>C (p.Val232Ala) c.*592T>C (n.*592T>C) c.*519T>C (n.*519T>C) c.452T>C (p.Val151Ala) c.605T>C (p.Val202Ala) c.785T>C (p.Val262Ala) | |
| 7 | g.117535363T>G | CA368977081 | CFTR | c.695T>G (p.Val232Gly) c.*592T>G (n.*592T>G) c.*519T>G (n.*519T>G) c.452T>G (p.Val151Gly) c.605T>G (p.Val202Gly) c.785T>G (p.Val262Gly) | |
| 7 | g.117535363T= | CA1737362178 | CFTR | c.695T= (p.Val232=) c.*592T= (n.*592T=) c.*519T= (n.*519T=) c.452T= (p.Val151=) c.605T= (p.Val202=) c.785T= (p.Val262=) | |
| 7 | g.117535364C>A | CA457227220 | CFTR | c.696C>A (p.Val232=) c.*593C>A (n.*593C>A) c.*520C>A (n.*520C>A) c.453C>A (p.Val151=) c.606C>A (p.Val202=) c.786C>A (p.Val262=) | ClinVar dbSNP |
| 7 | g.117535364C>G | CA457227221 | CFTR | c.696C>G (p.Val232=) c.*593C>G (n.*593C>G) c.*520C>G (n.*520C>G) c.453C>G (p.Val151=) c.606C>G (p.Val202=) c.786C>G (p.Val262=) | |
| 7 | g.117535364C>T | CA457227222 | CFTR | c.696C>T (p.Val232=) c.*593C>T (n.*593C>T) c.*520C>T (n.*520C>T) c.453C>T (p.Val151=) c.606C>T (p.Val202=) c.786C>T (p.Val262=) | ClinVar gnomAD v4 |
| 7 | g.117535365C>A | CA368977083 | CFTR | c.697C>A (p.Leu233Ile) c.*594C>A (n.*594C>A) c.*521C>A (n.*521C>A) c.454C>A (p.Leu152Ile) c.607C>A (p.Leu203Ile) c.787C>A (p.Leu263Ile) | |
| 7 | g.117535365C= | CA1737362179 | CFTR | c.697C= (p.Leu233=) c.*594C= (n.*594C=) c.*521C= (n.*521C=) c.454C= (p.Leu152=) c.607C= (p.Leu203=) c.787C= (p.Leu263=) | |
| 7 | g.117535365C>G | CA4450802 | CFTR | c.697C>G (p.Leu233Val) c.*594C>G (n.*594C>G) c.*521C>G (n.*521C>G) c.454C>G (p.Leu152Val) c.607C>G (p.Leu203Val) c.787C>G (p.Leu263Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117535365C>T | CA164945666 | CFTR | c.697C>T (p.Leu233Phe) c.*594C>T (n.*594C>T) c.*521C>T (n.*521C>T) c.454C>T (p.Leu152Phe) c.607C>T (p.Leu203Phe) c.787C>T (p.Leu263Phe) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117535366T>A | CA368977087 | CFTR | c.698T>A (p.Leu233His) c.*595T>A (n.*595T>A) c.*522T>A (n.*522T>A) c.455T>A (p.Leu152His) c.608T>A (p.Leu203His) c.788T>A (p.Leu263His) | |
| 7 | g.117535366T>C | CA368977088 | CFTR | c.698T>C (p.Leu233Pro) c.*595T>C (n.*595T>C) c.*522T>C (n.*522T>C) c.455T>C (p.Leu152Pro) c.608T>C (p.Leu203Pro) c.788T>C (p.Leu263Pro) | |
| 7 | g.117535366T>G | CA368977090 | CFTR | c.698T>G (p.Leu233Arg) c.*595T>G (n.*595T>G) c.*522T>G (n.*522T>G) c.455T>G (p.Leu152Arg) c.608T>G (p.Leu203Arg) c.788T>G (p.Leu263Arg) | |
| 7 | g.117535367T>A | CA457227228 | CFTR | c.699T>A (p.Leu233=) c.*596T>A (n.*596T>A) c.*523T>A (n.*523T>A) c.456T>A (p.Leu152=) c.609T>A (p.Leu203=) c.789T>A (p.Leu263=) | |
| 7 | g.117535367T>C | CA457227226 | CFTR | c.699T>C (p.Leu233=) c.*596T>C (n.*596T>C) c.*523T>C (n.*523T>C) c.456T>C (p.Leu152=) c.609T>C (p.Leu203=) c.789T>C (p.Leu263=) | |
| 7 | g.117535367T>G | CA457227224 | CFTR | c.699T>G (p.Leu233=) c.*596T>G (n.*596T>G) c.*523T>G (n.*523T>G) c.456T>G (p.Leu152=) c.609T>G (p.Leu203=) c.789T>G (p.Leu263=) | |
| 7 | g.117535368G>A | CA368977092 | CFTR | c.700G>A (p.Ala234Thr) c.*597G>A (n.*597G>A) c.*524G>A (n.*524G>A) c.457G>A (p.Ala153Thr) c.610G>A (p.Ala204Thr) c.790G>A (p.Ala264Thr) | |
| 7 | g.117535368G>C | CA368977094 | CFTR | c.700G>C (p.Ala234Pro) c.*597G>C (n.*597G>C) c.*524G>C (n.*524G>C) c.457G>C (p.Ala153Pro) c.610G>C (p.Ala204Pro) c.790G>C (p.Ala264Pro) | |
| 7 | g.117535368G= | CA1737362180 | CFTR | c.700G= (p.Ala234=) c.*597G= (n.*597G=) c.*524G= (n.*524G=) c.457G= (p.Ala153=) c.610G= (p.Ala204=) c.790G= (p.Ala264=) | |
| 7 | g.117535368G>T | CA4450803 | CFTR | c.700G>T (p.Ala234Ser) c.*597G>T (n.*597G>T) c.*524G>T (n.*524G>T) c.457G>T (p.Ala153Ser) c.610G>T (p.Ala204Ser) c.790G>T (p.Ala264Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117535369C>A | CA368977095 | CFTR | c.701C>A (p.Ala234Asp) c.*598C>A (n.*598C>A) c.*525C>A (n.*525C>A) c.458C>A (p.Ala153Asp) c.611C>A (p.Ala204Asp) c.791C>A (p.Ala264Asp) | ClinVar dbSNP |
| 7 | g.117535369C= | CA1737362181 | CFTR | c.701C= (p.Ala234=) c.*598C= (n.*598C=) c.*525C= (n.*525C=) c.458C= (p.Ala153=) c.611C= (p.Ala204=) c.791C= (p.Ala264=) | |
| 7 | g.117535369C>G | CA368977097 | CFTR | c.701C>G (p.Ala234Gly) c.*598C>G (n.*598C>G) c.*525C>G (n.*525C>G) c.458C>G (p.Ala153Gly) c.611C>G (p.Ala204Gly) c.791C>G (p.Ala264Gly) | |
| 7 | g.117535369C>T | CA4450804 | CFTR | c.701C>T (p.Ala234Val) c.*598C>T (n.*598C>T) c.*525C>T (n.*525C>T) c.458C>T (p.Ala153Val) c.611C>T (p.Ala204Val) c.791C>T (p.Ala264Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117535370C>A | CA457227230 | CFTR | c.702C>A (p.Ala234=) c.*599C>A (n.*599C>A) c.*526C>A (n.*526C>A) c.459C>A (p.Ala153=) c.612C>A (p.Ala204=) c.792C>A (p.Ala264=) | |
| 7 | g.117535370C>G | CA457227232 | CFTR | c.702C>G (p.Ala234=) c.*599C>G (n.*599C>G) c.*526C>G (n.*526C>G) c.459C>G (p.Ala153=) c.612C>G (p.Ala204=) c.792C>G (p.Ala264=) | |
| 7 | g.117535370C>T | CA457227233 | CFTR | c.702C>T (p.Ala234=) c.*599C>T (n.*599C>T) c.*526C>T (n.*526C>T) c.459C>T (p.Ala153=) c.612C>T (p.Ala204=) c.792C>T (p.Ala264=) | COSMIC |
| 7 | g.117535371C>A | CA368977098 | CFTR | c.703C>A (p.Leu235Ile) c.*600C>A (n.*600C>A) c.*527C>A (n.*527C>A) c.460C>A (p.Leu154Ile) c.613C>A (p.Leu205Ile) c.793C>A (p.Leu265Ile) | |
| 7 | g.117535371C= | CA1737362182 | CFTR | c.703C= (p.Leu235=) c.*600C= (n.*600C=) c.*527C= (n.*527C=) c.460C= (p.Leu154=) c.613C= (p.Leu205=) c.793C= (p.Leu265=) | |
| 7 | g.117535371C>G | CA164945673 | CFTR | c.703C>G (p.Leu235Val) c.*600C>G (n.*600C>G) c.*527C>G (n.*527C>G) c.460C>G (p.Leu154Val) c.613C>G (p.Leu205Val) c.793C>G (p.Leu265Val) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117535371C>T | CA368977101 | CFTR | c.703C>T (p.Leu235Phe) c.*600C>T (n.*600C>T) c.*527C>T (n.*527C>T) c.460C>T (p.Leu154Phe) c.613C>T (p.Leu205Phe) c.793C>T (p.Leu265Phe) | |
| 7 | g.117535371_117535372delinsCT | CA1737362183 | CFTR | c.703_704delinsCT (p.Leu235=) c.*600_*601delinsCT (n.*600_*601delinsCT) c.*527_*528delinsCT (n.*527_*528delinsCT) c.460_461delinsCT (p.Leu154=) c.613_614delinsCT (p.Leu205=) c.793_794delinsCT (p.Leu265=) | |
| 7 | g.117535372T>A | CA368977102 | CFTR | c.704T>A (p.Leu235His) c.*601T>A (n.*601T>A) c.*528T>A (n.*528T>A) c.461T>A (p.Leu154His) c.614T>A (p.Leu205His) c.794T>A (p.Leu265His) | ClinVar COSMIC |
| 7 | g.117535372T>C | CA4450805 | CFTR | c.704T>C (p.Leu235Pro) c.*601T>C (n.*601T>C) c.*528T>C (n.*528T>C) c.461T>C (p.Leu154Pro) c.614T>C (p.Leu205Pro) c.794T>C (p.Leu265Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 7 | g.117535372T>G | CA368977104 | CFTR | c.704T>G (p.Leu235Arg) c.*601T>G (n.*601T>G) c.*528T>G (n.*528T>G) c.461T>G (p.Leu154Arg) c.614T>G (p.Leu205Arg) c.794T>G (p.Leu265Arg) | COSMIC |
| 7 | g.117535372T= | CA1737362184 | CFTR | c.704T= (p.Leu235=) c.*601T= (n.*601T=) c.*528T= (n.*528T=) c.461T= (p.Leu154=) c.614T= (p.Leu205=) c.794T= (p.Leu265=) | |
| 7 | g.117535376del | CA457227237 | CFTR | c.708del (p.Gln237ArgfsTer4) c.*605del (n.*605del) c.*532del (n.*532del) c.465del (p.Gln156ArgfsTer4) c.618del (p.Gln207ArgfsTer4) c.798del (p.Gln267ArgfsTer4) | ClinVar dbSNP |
| 7 | g.117535373T>A | CA457227238 | CFTR | c.705T>A (p.Leu235=) c.*602T>A (n.*602T>A) c.*529T>A (n.*529T>A) c.462T>A (p.Leu154=) c.615T>A (p.Leu205=) c.795T>A (p.Leu265=) | dbSNP gnomAD v4 |
| 7 | g.117535373T>C | CA457227239 | CFTR | c.705T>C (p.Leu235=) c.*602T>C (n.*602T>C) c.*529T>C (n.*529T>C) c.462T>C (p.Leu154=) c.615T>C (p.Leu205=) c.795T>C (p.Leu265=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117535373T>G | CA4450806 | CFTR | c.705T>G (p.Leu235=) c.*602T>G (n.*602T>G) c.*529T>G (n.*529T>G) c.462T>G (p.Leu154=) c.615T>G (p.Leu205=) c.795T>G (p.Leu265=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117535373T= | CA1737362185 | CFTR | c.705T= (p.Leu235=) c.*602T= (n.*602T=) c.*529T= (n.*529T=) c.462T= (p.Leu154=) c.615T= (p.Leu205=) c.795T= (p.Leu265=) | |
| 7 | g.117535374T>A | CA368977107 | CFTR | c.706T>A (p.Phe236Ile) c.*603T>A (n.*603T>A) c.*530T>A (n.*530T>A) c.463T>A (p.Phe155Ile) c.616T>A (p.Phe206Ile) c.796T>A (p.Phe266Ile) | |
| 7 | g.117535374T>C | CA368977109 | CFTR | c.706T>C (p.Phe236Leu) c.*603T>C (n.*603T>C) c.*530T>C (n.*530T>C) c.463T>C (p.Phe155Leu) c.616T>C (p.Phe206Leu) c.796T>C (p.Phe266Leu) | gnomAD v4 |
| 7 | g.117535374T>G | CA368977106 | CFTR | c.706T>G (p.Phe236Val) c.*603T>G (n.*603T>G) c.*530T>G (n.*530T>G) c.463T>G (p.Phe155Val) c.616T>G (p.Phe206Val) c.796T>G (p.Phe266Val) | |
| 7 | g.117535375T>A | CA368977110 | CFTR | c.707T>A (p.Phe236Tyr) c.*604T>A (n.*604T>A) c.*531T>A (n.*531T>A) c.464T>A (p.Phe155Tyr) c.617T>A (p.Phe206Tyr) c.797T>A (p.Phe266Tyr) | ClinVar |
| 7 | g.117535375T>C | CA4450807 | CFTR | c.707T>C (p.Phe236Ser) c.*604T>C (n.*604T>C) c.*531T>C (n.*531T>C) c.464T>C (p.Phe155Ser) c.617T>C (p.Phe206Ser) c.797T>C (p.Phe266Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117535375T>G | CA368977112 | CFTR | c.707T>G (p.Phe236Cys) c.*604T>G (n.*604T>G) c.*531T>G (n.*531T>G) c.464T>G (p.Phe155Cys) c.617T>G (p.Phe206Cys) c.797T>G (p.Phe266Cys) | |
| 7 | g.117535375T= | CA1737362186 | CFTR | c.707T= (p.Phe236=) c.*604T= (n.*604T=) c.*531T= (n.*531T=) c.464T= (p.Phe155=) c.617T= (p.Phe206=) c.797T= (p.Phe266=) | |
| 7 | g.117535376T>A | CA368977113 | CFTR | c.708T>A (p.Phe236Leu) c.*605T>A (n.*605T>A) c.*532T>A (n.*532T>A) c.465T>A (p.Phe155Leu) c.618T>A (p.Phe206Leu) c.798T>A (p.Phe266Leu) | |
| 7 | g.117535376T>C | CA457227242 | CFTR | c.708T>C (p.Phe236=) c.*605T>C (n.*605T>C) c.*532T>C (n.*532T>C) c.465T>C (p.Phe155=) c.618T>C (p.Phe206=) c.798T>C (p.Phe266=) | |
| 7 | g.117535376T>G | CA368977114 | CFTR | c.708T>G (p.Phe236Leu) c.*605T>G (n.*605T>G) c.*532T>G (n.*532T>G) c.465T>G (p.Phe155Leu) c.618T>G (p.Phe206Leu) c.798T>G (p.Phe266Leu) | |
| 7 | g.117535377C>A | CA368977115 | CFTR | c.709C>A (p.Gln237Lys) c.*606C>A (n.*606C>A) c.*533C>A (n.*533C>A) c.466C>A (p.Gln156Lys) c.619C>A (p.Gln207Lys) c.799C>A (p.Gln267Lys) | |
| 7 | g.117535377C= | CA1737362187 | CFTR | c.709C= (p.Gln237=) c.*606C= (n.*606C=) c.*533C= (n.*533C=) c.466C= (p.Gln156=) c.619C= (p.Gln207=) c.799C= (p.Gln267=) | |
| 7 | g.117535377C>G | CA327627 | CFTR | c.709C>G (p.Gln237Glu) c.*606C>G (n.*606C>G) c.*533C>G (n.*533C>G) c.466C>G (p.Gln156Glu) c.619C>G (p.Gln207Glu) c.799C>G (p.Gln267Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117535377C>T | CA368977116 | CFTR | c.709C>T (p.Gln237Ter) c.*606C>T (n.*606C>T) c.*533C>T (n.*533C>T) c.466C>T (p.Gln156Ter) c.619C>T (p.Gln207Ter) c.799C>T (p.Gln267Ter) | COSMIC |
| 7 | g.117535378A= | CA1737362188 | CFTR | c.710A= (p.Gln237=) c.*607A= (n.*607A=) c.*534A= (n.*534A=) c.467A= (p.Gln156=) c.620A= (p.Gln207=) c.800A= (p.Gln267=) | |
| 7 | g.117535378A>C | CA368977118 | CFTR | c.710A>C (p.Gln237Pro) c.*607A>C (n.*607A>C) c.*534A>C (n.*534A>C) c.467A>C (p.Gln156Pro) c.620A>C (p.Gln207Pro) c.800A>C (p.Gln267Pro) | ClinVar |
| 7 | g.117535378A>G | CA368977120 | CFTR | c.710A>G (p.Gln237Arg) c.*607A>G (n.*607A>G) c.*534A>G (n.*534A>G) c.467A>G (p.Gln156Arg) c.620A>G (p.Gln207Arg) c.800A>G (p.Gln267Arg) | ClinVar dbSNP |
| 7 | g.117535378A>T | CA368977121 | CFTR | c.710A>T (p.Gln237Leu) c.*607A>T (n.*607A>T) c.*534A>T (n.*534A>T) c.467A>T (p.Gln156Leu) c.620A>T (p.Gln207Leu) c.800A>T (p.Gln267Leu) | |
| 7 | g.117535379G>A | CA457227243 | CFTR | c.711G>A (p.Gln237=) c.*608G>A (n.*608G>A) c.*535G>A (n.*535G>A) c.468G>A (p.Gln156=) c.621G>A (p.Gln207=) c.801G>A (p.Gln267=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117535379G>C | CA327629 | CFTR | c.711G>C (p.Gln237His) c.*608G>C (n.*608G>C) c.*535G>C (n.*535G>C) c.468G>C (p.Gln156His) c.621G>C (p.Gln207His) c.801G>C (p.Gln267His) | ClinVar dbSNP |
| 7 | g.117535379G= | CA1737362189 | CFTR | c.711G= (p.Gln237=) c.*608G= (n.*608G=) c.*535G= (n.*535G=) c.468G= (p.Gln156=) c.621G= (p.Gln207=) c.801G= (p.Gln267=) | |
| 7 | g.117535379G>T | CA368977122 | CFTR | c.711G>T (p.Gln237His) c.*608G>T (n.*608G>T) c.*535G>T (n.*535G>T) c.468G>T (p.Gln156His) c.621G>T (p.Gln207His) c.801G>T (p.Gln267His) | |
| 7 | g.117535380G>A | CA368977123 | CFTR | c.712G>A (p.Ala238Thr) c.*609G>A (n.*609G>A) c.*536G>A (n.*536G>A) c.469G>A (p.Ala157Thr) c.622G>A (p.Ala208Thr) c.802G>A (p.Ala268Thr) | |
| 7 | g.117535380G>C | CA368977124 | CFTR | c.712G>C (p.Ala238Pro) c.*609G>C (n.*609G>C) c.*536G>C (n.*536G>C) c.469G>C (p.Ala157Pro) c.622G>C (p.Ala208Pro) c.802G>C (p.Ala268Pro) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117535380G= | CA1737362190 | CFTR | c.712G= (p.Ala238=) c.*609G= (n.*609G=) c.*536G= (n.*536G=) c.469G= (p.Ala157=) c.622G= (p.Ala208=) c.802G= (p.Ala268=) | |
| 7 | g.117535380G>T | CA368977125 | CFTR | c.712G>T (p.Ala238Ser) c.*609G>T (n.*609G>T) c.*536G>T (n.*536G>T) c.469G>T (p.Ala157Ser) c.622G>T (p.Ala208Ser) c.802G>T (p.Ala268Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117535381C>A | CA368977127 | CFTR | c.713C>A (p.Ala238Asp) c.*610C>A (n.*610C>A) c.*537C>A (n.*537C>A) c.470C>A (p.Ala157Asp) c.623C>A (p.Ala208Asp) c.803C>A (p.Ala268Asp) | |
| 7 | g.117535381C= | CA1737362192 | CFTR | c.713C= (p.Ala238=) c.*610C= (n.*610C=) c.*537C= (n.*537C=) c.470C= (p.Ala157=) c.623C= (p.Ala208=) c.803C= (p.Ala268=) | |
| 7 | g.117535381C>G | CA368977129 | CFTR | c.713C>G (p.Ala238Gly) c.*610C>G (n.*610C>G) c.*537C>G (n.*537C>G) c.470C>G (p.Ala157Gly) c.623C>G (p.Ala208Gly) c.803C>G (p.Ala268Gly) | |
| 7 | g.117535381C>T | CA327631 | CFTR | c.713C>T (p.Ala238Val) c.*610C>T (n.*610C>T) c.*537C>T (n.*537C>T) c.470C>T (p.Ala157Val) c.623C>T (p.Ala208Val) c.803C>T (p.Ala268Val) | ClinVar dbSNP |
| 7 | g.117535381_117535382delinsCT | CA1737362191 | CFTR | c.713_714delinsCT (p.Ala238=) c.*610_*611delinsCT (n.*610_*611delinsCT) c.*537_*538delinsCT (n.*537_*538delinsCT) c.470_471delinsCT (p.Ala157=) c.623_624delinsCT (p.Ala208=) c.803_804delinsCT (p.Ala268=) | |
| 7 | g.117535382del | CA327633 | CFTR | c.714del (p.Leu240Ter) c.*611del (n.*611del) c.*538del (n.*538del) c.471del (p.Leu159Ter) c.624del (p.Leu210Ter) c.804del (p.Leu270Ter) | ClinVar dbSNP |
| 7 | g.117535382T>A | CA457227247 | CFTR | c.714T>A (p.Ala238=) c.*611T>A (n.*611T>A) c.*538T>A (n.*538T>A) c.471T>A (p.Ala157=) c.624T>A (p.Ala208=) c.804T>A (p.Ala268=) | |
| 7 | g.117535382T>C | CA457227248 | CFTR | c.714T>C (p.Ala238=) c.*611T>C (n.*611T>C) c.*538T>C (n.*538T>C) c.471T>C (p.Ala157=) c.624T>C (p.Ala208=) c.804T>C (p.Ala268=) | |
| 7 | g.117535382T>G | CA457227249 | CFTR | c.714T>G (p.Ala238=) c.*611T>G (n.*611T>G) c.*538T>G (n.*538T>G) c.471T>G (p.Ala157=) c.624T>G (p.Ala208=) c.804T>G (p.Ala268=) | |
| 7 | g.117535382_117535383delinsTG | CA1737362193 | CFTR | c.714_715delinsTG (p.Ala238=) c.*611_*612delinsTG (n.*611_*612delinsTG) c.*538_*539delinsTG (n.*538_*539delinsTG) c.471_472delinsTG (p.Ala157=) c.624_625delinsTG (p.Ala208=) c.804_805delinsTG (p.Ala268=) | |
| 7 | g.117535383G>A | CA327634 | CFTR | c.715G>A (p.Gly239Arg) c.*612G>A (n.*612G>A) c.*539G>A (n.*539G>A) c.472G>A (p.Gly158Arg) c.625G>A (p.Gly209Arg) c.805G>A (p.Gly269Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 7 | g.117535383G>C | CA368977131 | CFTR | c.715G>C (p.Gly239Arg) c.*612G>C (n.*612G>C) c.*539G>C (n.*539G>C) c.472G>C (p.Gly158Arg) c.625G>C (p.Gly209Arg) c.805G>C (p.Gly269Arg) | |
| 7 | g.117535383G= | CA1737362194 | CFTR | c.715G= (p.Gly239=) c.*612G= (n.*612G=) c.*539G= (n.*539G=) c.472G= (p.Gly158=) c.625G= (p.Gly209=) c.805G= (p.Gly269=) | |
| 7 | g.117535383G>T | CA368977133 | CFTR | c.715G>T (p.Gly239Trp) c.*612G>T (n.*612G>T) c.*539G>T (n.*539G>T) c.472G>T (p.Gly158Trp) c.625G>T (p.Gly209Trp) c.805G>T (p.Gly269Trp) | |
| 7 | g.117535385del | CA658656008 | CFTR | c.717del (p.Leu240Ter) c.*614del (n.*614del) c.*541del (n.*541del) c.474del (p.Leu159Ter) c.627del (p.Leu210Ter) c.807del (p.Leu270Ter) | ClinVar dbSNP |
| 7 | g.117535384G>A | CA368977135 | CFTR | c.716G>A (p.Gly239Glu) c.*613G>A (n.*613G>A) c.*540G>A (n.*540G>A) c.473G>A (p.Gly158Glu) c.626G>A (p.Gly209Glu) c.806G>A (p.Gly269Glu) | ClinVar gnomAD v4 |
| 7 | g.117535384G>C | CA368977137 | CFTR | c.716G>C (p.Gly239Ala) c.*613G>C (n.*613G>C) c.*540G>C (n.*540G>C) c.473G>C (p.Gly158Ala) c.626G>C (p.Gly209Ala) c.806G>C (p.Gly269Ala) | |
| 7 | g.117535384G= | CA1737362195 | CFTR | c.716G= (p.Gly239=) c.*613G= (n.*613G=) c.*540G= (n.*540G=) c.473G= (p.Gly158=) c.626G= (p.Gly209=) c.806G= (p.Gly269=) | |
| 7 | g.117535384G>T | CA368977138 | CFTR | c.716G>T (p.Gly239Val) c.*613G>T (n.*613G>T) c.*540G>T (n.*540G>T) c.473G>T (p.Gly158Val) c.626G>T (p.Gly209Val) c.806G>T (p.Gly269Val) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117535385G>A | CA457227254 | CFTR | c.717G>A (p.Gly239=) c.*614G>A (n.*614G>A) c.*541G>A (n.*541G>A) c.474G>A (p.Gly158=) c.627G>A (p.Gly209=) c.807G>A (p.Gly269=) | ClinVar gnomAD v4 |
| 7 | g.117535385G>C | CA4450808 | CFTR | c.717G>C (p.Gly239=) c.*614G>C (n.*614G>C) c.*541G>C (n.*541G>C) c.474G>C (p.Gly158=) c.627G>C (p.Gly209=) c.807G>C (p.Gly269=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117535385G= | CA1737362196 | CFTR | c.717G= (p.Gly239=) c.*614G= (n.*614G=) c.*541G= (n.*541G=) c.474G= (p.Gly158=) c.627G= (p.Gly209=) c.807G= (p.Gly269=) | |
| 7 | g.117535385G>T | CA457227255 | CFTR | c.717G>T (p.Gly239=) c.*614G>T (n.*614G>T) c.*541G>T (n.*541G>T) c.474G>T (p.Gly158=) c.627G>T (p.Gly209=) c.807G>T (p.Gly269=) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117535386C>A | CA368977141 | CFTR | c.718C>A (p.Leu240Ile) c.*615C>A (n.*615C>A) c.*542C>A (n.*542C>A) c.475C>A (p.Leu159Ile) c.628C>A (p.Leu210Ile) c.808C>A (p.Leu270Ile) | |
| 7 | g.117535386C= | CA1737362197 | CFTR | c.718C= (p.Leu240=) c.*615C= (n.*615C=) c.*542C= (n.*542C=) c.475C= (p.Leu159=) c.628C= (p.Leu210=) c.808C= (p.Leu270=) | |
| 7 | g.117535386C>G | CA164945731 | CFTR | c.718C>G (p.Leu240Val) c.*615C>G (n.*615C>G) c.*542C>G (n.*542C>G) c.475C>G (p.Leu159Val) c.628C>G (p.Leu210Val) c.808C>G (p.Leu270Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117535386C>T | CA457227256 | CFTR | c.718C>T (p.Leu240=) c.*615C>T (n.*615C>T) c.*542C>T (n.*542C>T) c.475C>T (p.Leu159=) c.628C>T (p.Leu210=) c.808C>T (p.Leu270=) | ClinVar |
| 7 | g.117535387T>A | CA368977144 | CFTR | c.719T>A (p.Leu240Gln) c.*616T>A (n.*616T>A) c.*543T>A (n.*543T>A) c.476T>A (p.Leu159Gln) c.629T>A (p.Leu210Gln) c.809T>A (p.Leu270Gln) | |
| 7 | g.117535387T>C | CA368977146 | CFTR | c.719T>C (p.Leu240Pro) c.*616T>C (n.*616T>C) c.*543T>C (n.*543T>C) c.476T>C (p.Leu159Pro) c.629T>C (p.Leu210Pro) c.809T>C (p.Leu270Pro) | |
| 7 | g.117535387T>G | CA368977143 | CFTR | c.719T>G (p.Leu240Arg) c.*616T>G (n.*616T>G) c.*543T>G (n.*543T>G) c.476T>G (p.Leu159Arg) c.629T>G (p.Leu210Arg) c.809T>G (p.Leu270Arg) | ClinVar gnomAD v4 |
| 7 | g.117535387_117535409delinsTAGGGAGAATGATGATGAAGTAC | CA1737362198 | CFTR | c.719_741delinsTAGGGAGAATGATGATGAAGTAC (p.Leu240=) c.*616_*638delinsTAGGGAGAATGATGATGAAGTAC (n.*616_*638delinsTAGGGAGAATGATGATGAAGTAC) c.*543_*565delinsTAGGGAGAATGATGATGAAGTAC (n.*543_*565delinsTAGGGAGAATGATGATGAAGTAC) c.476_498delinsTAGGGAGAATGATGATGAAGTAC (p.Leu159=) c.629_651delinsTAGGGAGAATGATGATGAAGTAC (p.Leu210=) c.809_831delinsTAGGGAGAATGATGATGAAGTAC (p.Leu270=) | |
| 7 | g.117535388A= | CA1737362199 | CFTR | c.720A= (p.Leu240=) c.*617A= (n.*617A=) c.*544A= (n.*544A=) c.477A= (p.Leu159=) c.630A= (p.Leu210=) c.810A= (p.Leu270=) | |
| 7 | g.117535388A>C | CA457227257 | CFTR | c.720A>C (p.Leu240=) c.*617A>C (n.*617A>C) c.*544A>C (n.*544A>C) c.477A>C (p.Leu159=) c.630A>C (p.Leu210=) c.810A>C (p.Leu270=) | |
| 7 | g.117535388A>G | CA457227261 | CFTR | c.720A>G (p.Leu240=) c.*617A>G (n.*617A>G) c.*544A>G (n.*544A>G) c.477A>G (p.Leu159=) c.630A>G (p.Leu210=) c.810A>G (p.Leu270=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117535388A>T | CA457227262 | CFTR | c.720A>T (p.Leu240=) c.*617A>T (n.*617A>T) c.*544A>T (n.*544A>T) c.477A>T (p.Leu159=) c.630A>T (p.Leu210=) c.810A>T (p.Leu270=) | |
| 7 | g.117535391_117535412del | CA325539 | CFTR | c.723_743+1del c.*620_*640+1del c.*547_*567+1del c.480_500+1del c.633_653+1del c.813_833+1del | ClinVar dbSNP gnomAD v4 |
| 7 | g.117535389G>A | CA327636 | CFTR | c.721G>A (p.Gly241Arg) c.*618G>A (n.*618G>A) c.*545G>A (n.*545G>A) c.478G>A (p.Gly160Arg) c.631G>A (p.Gly211Arg) c.811G>A (p.Gly271Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 7 | g.117535389G>C | CA368977149 | CFTR | c.721G>C (p.Gly241Arg) c.*618G>C (n.*618G>C) c.*545G>C (n.*545G>C) c.478G>C (p.Gly160Arg) c.631G>C (p.Gly211Arg) c.811G>C (p.Gly271Arg) | |
| 7 | g.117535389G= | CA1737362200 | CFTR | c.721G= (p.Gly241=) c.*618G= (n.*618G=) c.*545G= (n.*545G=) c.478G= (p.Gly160=) c.631G= (p.Gly211=) c.811G= (p.Gly271=) | |
| 7 | g.117535389G>T | CA368977150 | CFTR | c.721G>T (p.Gly241Trp) c.*618G>T (n.*618G>T) c.*545G>T (n.*545G>T) c.478G>T (p.Gly160Trp) c.631G>T (p.Gly211Trp) c.811G>T (p.Gly271Trp) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117535390G>A | CA368977151 | CFTR | c.722G>A (p.Gly241Glu) c.*619G>A (n.*619G>A) c.*546G>A (n.*546G>A) c.479G>A (p.Gly160Glu) c.632G>A (p.Gly211Glu) c.812G>A (p.Gly271Glu) | ClinVar COSMIC |
| 7 | g.117535390G>C | CA368977153 | CFTR | c.722G>C (p.Gly241Ala) c.*619G>C (n.*619G>C) c.*546G>C (n.*546G>C) c.479G>C (p.Gly160Ala) c.632G>C (p.Gly211Ala) c.812G>C (p.Gly271Ala) | |
| 7 | g.117535390G>T | CA368977155 | CFTR | c.722G>T (p.Gly241Val) c.*619G>T (n.*619G>T) c.*546G>T (n.*546G>T) c.479G>T (p.Gly160Val) c.632G>T (p.Gly211Val) c.812G>T (p.Gly271Val) | |
| 7 | g.117535391G>A | CA457227264 | CFTR | c.723G>A (p.Gly241=) c.*620G>A (n.*620G>A) c.*547G>A (n.*547G>A) c.480G>A (p.Gly160=) c.633G>A (p.Gly211=) c.813G>A (p.Gly271=) | ClinVar |
| 7 | g.117535391G>C | CA457227265 | CFTR | c.723G>C (p.Gly241=) c.*620G>C (n.*620G>C) c.*547G>C (n.*547G>C) c.480G>C (p.Gly160=) c.633G>C (p.Gly211=) c.813G>C (p.Gly271=) | gnomAD v4 |
| 7 | g.117535391G>T | CA457227267 | CFTR | c.723G>T (p.Gly241=) c.*620G>T (n.*620G>T) c.*547G>T (n.*547G>T) c.480G>T (p.Gly160=) c.633G>T (p.Gly211=) c.813G>T (p.Gly271=) | |
| 7 | g.117535392A>C | CA457227269 | CFTR | c.724A>C (p.Arg242=) c.*621A>C (n.*621A>C) c.*548A>C (n.*548A>C) c.481A>C (p.Arg161=) c.634A>C (p.Arg212=) c.814A>C (p.Arg272=) | |
| 7 | g.117535392A>G | CA368977156 | CFTR | c.724A>G (p.Arg242Gly) c.*621A>G (n.*621A>G) c.*548A>G (n.*548A>G) c.481A>G (p.Arg161Gly) c.634A>G (p.Arg212Gly) c.814A>G (p.Arg272Gly) | gnomAD v4 |
| 7 | g.117535392A>T | CA368977157 | CFTR | c.724A>T (p.Arg242Ter) c.*621A>T (n.*621A>T) c.*548A>T (n.*548A>T) c.481A>T (p.Arg161Ter) c.634A>T (p.Arg212Ter) c.814A>T (p.Arg272Ter) | |
| 7 | g.117535393G>A | CA4450809 | CFTR | c.725G>A (p.Arg242Lys) c.*622G>A (n.*622G>A) c.*549G>A (n.*549G>A) c.482G>A (p.Arg161Lys) c.635G>A (p.Arg212Lys) c.815G>A (p.Arg272Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 7 | g.117535393G>C | CA368977159 | CFTR | c.725G>C (p.Arg242Thr) c.*622G>C (n.*622G>C) c.*549G>C (n.*549G>C) c.482G>C (p.Arg161Thr) c.635G>C (p.Arg212Thr) c.815G>C (p.Arg272Thr) | |
| 7 | g.117535393G= | CA1737362201 | CFTR | c.725G= (p.Arg242=) c.*622G= (n.*622G=) c.*549G= (n.*549G=) c.482G= (p.Arg161=) c.635G= (p.Arg212=) c.815G= (p.Arg272=) | |
| 7 | g.117535393G>T | CA368977160 | CFTR | c.725G>T (p.Arg242Ile) c.*622G>T (n.*622G>T) c.*549G>T (n.*549G>T) c.482G>T (p.Arg161Ile) c.635G>T (p.Arg212Ile) c.815G>T (p.Arg272Ile) | |
| 7 | g.117535394A>C | CA368977162 | CFTR | c.726A>C (p.Arg242Ser) c.*623A>C (n.*623A>C) c.*550A>C (n.*550A>C) c.483A>C (p.Arg161Ser) c.636A>C (p.Arg212Ser) c.816A>C (p.Arg272Ser) | |
| 7 | g.117535394A>G | CA457227270 | CFTR | c.726A>G (p.Arg242=) c.*623A>G (n.*623A>G) c.*550A>G (n.*550A>G) c.483A>G (p.Arg161=) c.636A>G (p.Arg212=) c.816A>G (p.Arg272=) | |
| 7 | g.117535394A>T | CA368977164 | CFTR | c.726A>T (p.Arg242Ser) c.*623A>T (n.*623A>T) c.*550A>T (n.*550A>T) c.483A>T (p.Arg161Ser) c.636A>T (p.Arg212Ser) c.816A>T (p.Arg272Ser) | |
| 7 | g.117535395A= | CA1737362202 | CFTR | c.727A= (p.Met243=) c.*624A= (n.*624A=) c.*551A= (n.*551A=) c.484A= (p.Met162=) c.637A= (p.Met213=) c.817A= (p.Met273=) | |
| 7 | g.117535395A>C | CA368977166 | CFTR | c.727A>C (p.Met243Leu) c.*624A>C (n.*624A>C) c.*551A>C (n.*551A>C) c.484A>C (p.Met162Leu) c.637A>C (p.Met213Leu) c.817A>C (p.Met273Leu) | |
| 7 | g.117535395A>G | CA4450810 | CFTR | c.727A>G (p.Met243Val) c.*624A>G (n.*624A>G) c.*551A>G (n.*551A>G) c.484A>G (p.Met162Val) c.637A>G (p.Met213Val) c.817A>G (p.Met273Val) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
| 7 | g.117535395A>T | CA368977167 | CFTR | c.727A>T (p.Met243Leu) c.*624A>T (n.*624A>T) c.*551A>T (n.*551A>T) c.484A>T (p.Met162Leu) c.637A>T (p.Met213Leu) c.817A>T (p.Met273Leu) | |
| 7 | g.117535396T>A | CA368977169 | CFTR | c.728T>A (p.Met243Lys) c.*625T>A (n.*625T>A) c.*552T>A (n.*552T>A) c.485T>A (p.Met162Lys) c.638T>A (p.Met213Lys) c.818T>A (p.Met273Lys) | |
| 7 | g.117535396T>C | CA4450811 | CFTR | c.728T>C (p.Met243Thr) c.*625T>C (n.*625T>C) c.*552T>C (n.*552T>C) c.485T>C (p.Met162Thr) c.638T>C (p.Met213Thr) c.818T>C (p.Met273Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117535396T>G | CA368977171 | CFTR | c.728T>G (p.Met243Arg) c.*625T>G (n.*625T>G) c.*552T>G (n.*552T>G) c.485T>G (p.Met162Arg) c.638T>G (p.Met213Arg) c.818T>G (p.Met273Arg) | |
| 7 | g.117535396T= | CA1737362203 | CFTR | c.728T= (p.Met243=) c.*625T= (n.*625T=) c.*552T= (n.*552T=) c.485T= (p.Met162=) c.638T= (p.Met213=) c.818T= (p.Met273=) | |
| 7 | g.117535397G>A | CA368977172 | CFTR | c.729G>A (p.Met243Ile) c.*626G>A (n.*626G>A) c.*553G>A (n.*553G>A) c.486G>A (p.Met162Ile) c.639G>A (p.Met213Ile) c.819G>A (p.Met273Ile) | ClinVar COSMIC |
| 7 | g.117535397G>C | CA368977174 | CFTR | c.729G>C (p.Met243Ile) c.*626G>C (n.*626G>C) c.*553G>C (n.*553G>C) c.486G>C (p.Met162Ile) c.639G>C (p.Met213Ile) c.819G>C (p.Met273Ile) | |
| 7 | g.117535397G>T | CA368977175 | CFTR | c.729G>T (p.Met243Ile) c.*626G>T (n.*626G>T) c.*553G>T (n.*553G>T) c.486G>T (p.Met162Ile) c.639G>T (p.Met213Ile) c.819G>T (p.Met273Ile) | |
| 7 | g.117535398A= | CA1737362204 | CFTR | c.730A= (p.Met244=) c.*627A= (n.*627A=) c.*554A= (n.*554A=) c.487A= (p.Met163=) c.640A= (p.Met214=) c.820A= (p.Met274=) | |
| 7 | g.117535398A>C | CA368977177 | CFTR | c.730A>C (p.Met244Leu) c.*627A>C (n.*627A>C) c.*554A>C (n.*554A>C) c.487A>C (p.Met163Leu) c.640A>C (p.Met214Leu) c.820A>C (p.Met274Leu) | |
| 7 | g.117535398A>G | CA4450812 | CFTR | c.730A>G (p.Met244Val) c.*627A>G (n.*627A>G) c.*554A>G (n.*554A>G) c.487A>G (p.Met163Val) c.640A>G (p.Met214Val) c.820A>G (p.Met274Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117535398A>T | CA368977179 | CFTR | c.730A>T (p.Met244Leu) c.*627A>T (n.*627A>T) c.*554A>T (n.*554A>T) c.487A>T (p.Met163Leu) c.640A>T (p.Met214Leu) c.820A>T (p.Met274Leu) | |
| 7 | g.117535399T>A | CA327640 | CFTR | c.731T>A (p.Met244Lys) c.*628T>A (n.*628T>A) c.*555T>A (n.*555T>A) c.488T>A (p.Met163Lys) c.641T>A (p.Met214Lys) c.821T>A (p.Met274Lys) | ClinVar dbSNP |
| 7 | g.117535399T>C | CA368977180 | CFTR | c.731T>C (p.Met244Thr) c.*628T>C (n.*628T>C) c.*555T>C (n.*555T>C) c.488T>C (p.Met163Thr) c.641T>C (p.Met214Thr) c.821T>C (p.Met274Thr) | ClinVar |
| 7 | g.117535399T>G | CA368977182 | CFTR | c.731T>G (p.Met244Arg) c.*628T>G (n.*628T>G) c.*555T>G (n.*555T>G) c.488T>G (p.Met163Arg) c.641T>G (p.Met214Arg) c.821T>G (p.Met274Arg) | |
| 7 | g.117535399T= | CA1737362205 | CFTR | c.731T= (p.Met244=) c.*628T= (n.*628T=) c.*555T= (n.*555T=) c.488T= (p.Met163=) c.641T= (p.Met214=) c.821T= (p.Met274=) | |
| 7 | g.117535400G>A | CA368977186 | CFTR | c.732G>A (p.Met244Ile) c.*629G>A (n.*629G>A) c.*556G>A (n.*556G>A) c.489G>A (p.Met163Ile) c.642G>A (p.Met214Ile) c.822G>A (p.Met274Ile) | gnomAD v4 |
| 7 | g.117535400G>C | CA368977185 | CFTR | c.732G>C (p.Met244Ile) c.*629G>C (n.*629G>C) c.*556G>C (n.*556G>C) c.489G>C (p.Met163Ile) c.642G>C (p.Met214Ile) c.822G>C (p.Met274Ile) | dbSNP gnomAD v2 |
| 7 | g.117535400G= | CA1737362206 | CFTR | c.732G= (p.Met244=) c.*629G= (n.*629G=) c.*556G= (n.*556G=) c.489G= (p.Met163=) c.642G= (p.Met214=) c.822G= (p.Met274=) | |
| 7 | g.117535400G>T | CA368977183 | CFTR | c.732G>T (p.Met244Ile) c.*629G>T (n.*629G>T) c.*556G>T (n.*556G>T) c.489G>T (p.Met163Ile) c.642G>T (p.Met214Ile) c.822G>T (p.Met274Ile) | |
| 7 | g.117535401A>C | CA368977189 | CFTR | c.733A>C (p.Met245Leu) c.*630A>C (n.*630A>C) c.*557A>C (n.*557A>C) c.490A>C (p.Met164Leu) c.643A>C (p.Met215Leu) c.823A>C (p.Met275Leu) | |
| 7 | g.117535401A>G | CA368977191 | CFTR | c.733A>G (p.Met245Val) c.*630A>G (n.*630A>G) c.*557A>G (n.*557A>G) c.490A>G (p.Met164Val) c.643A>G (p.Met215Val) c.823A>G (p.Met275Val) | gnomAD v4 |
| 7 | g.117535401A>T | CA368977190 | CFTR | c.733A>T (p.Met245Leu) c.*630A>T (n.*630A>T) c.*557A>T (n.*557A>T) c.490A>T (p.Met164Leu) c.643A>T (p.Met215Leu) c.823A>T (p.Met275Leu) | gnomAD v4 |
| 7 | g.117535402T>A | CA368977192 | CFTR | c.734T>A (p.Met245Lys) c.*631T>A (n.*631T>A) c.*558T>A (n.*558T>A) c.491T>A (p.Met164Lys) c.644T>A (p.Met215Lys) c.824T>A (p.Met275Lys) | |
| 7 | g.117535402T>C | CA164945750 | CFTR | c.734T>C (p.Met245Thr) c.*631T>C (n.*631T>C) c.*558T>C (n.*558T>C) c.491T>C (p.Met164Thr) c.644T>C (p.Met215Thr) c.824T>C (p.Met275Thr) | dbSNP |
| 7 | g.117535402T>G | CA368977194 | CFTR | c.734T>G (p.Met245Arg) c.*631T>G (n.*631T>G) c.*558T>G (n.*558T>G) c.491T>G (p.Met164Arg) c.644T>G (p.Met215Arg) c.824T>G (p.Met275Arg) | |
| 7 | g.117535402T= | CA1737362207 | CFTR | c.734T= (p.Met245=) c.*631T= (n.*631T=) c.*558T= (n.*558T=) c.491T= (p.Met164=) c.644T= (p.Met215=) c.824T= (p.Met275=) | |
| 7 | g.117535403G>A | CA368977196 | CFTR | c.735G>A (p.Met245Ile) c.*632G>A (n.*632G>A) c.*559G>A (n.*559G>A) c.492G>A (p.Met164Ile) c.645G>A (p.Met215Ile) c.825G>A (p.Met275Ile) | gnomAD v4 |
| 7 | g.117535403G>C | CA368977197 | CFTR | c.735G>C (p.Met245Ile) c.*632G>C (n.*632G>C) c.*559G>C (n.*559G>C) c.492G>C (p.Met164Ile) c.645G>C (p.Met215Ile) c.825G>C (p.Met275Ile) | |
| 7 | g.117535403G>T | CA368977199 | CFTR | c.735G>T (p.Met245Ile) c.*632G>T (n.*632G>T) c.*559G>T (n.*559G>T) c.492G>T (p.Met164Ile) c.645G>T (p.Met215Ile) c.825G>T (p.Met275Ile) | |
| 7 | g.117535404A>C | CA368977201 | CFTR | c.736A>C (p.Lys246Gln) c.*633A>C (n.*633A>C) c.*560A>C (n.*560A>C) c.493A>C (p.Lys165Gln) c.646A>C (p.Lys216Gln) c.826A>C (p.Lys276Gln) | ClinVar |
| 7 | g.117535404A>G | CA368977203 | CFTR | c.736A>G (p.Lys246Glu) c.*633A>G (n.*633A>G) c.*560A>G (n.*560A>G) c.493A>G (p.Lys165Glu) c.646A>G (p.Lys216Glu) c.826A>G (p.Lys276Glu) | gnomAD v4 |
| 7 | g.117535404A>T | CA368977204 | CFTR | c.736A>T (p.Lys246Ter) c.*633A>T (n.*633A>T) c.*560A>T (n.*560A>T) c.493A>T (p.Lys165Ter) c.646A>T (p.Lys216Ter) c.826A>T (p.Lys276Ter) | |
| 7 | g.117535405A>C | CA368977206 | CFTR | c.737A>C (p.Lys246Thr) c.*634A>C (n.*634A>C) c.*561A>C (n.*561A>C) c.494A>C (p.Lys165Thr) c.647A>C (p.Lys216Thr) c.827A>C (p.Lys276Thr) | |
| 7 | g.117535405A>G | CA368977207 | CFTR | c.737A>G (p.Lys246Arg) c.*634A>G (n.*634A>G) c.*561A>G (n.*561A>G) c.494A>G (p.Lys165Arg) c.647A>G (p.Lys216Arg) c.827A>G (p.Lys276Arg) | gnomAD v4 |
| 7 | g.117535405A>T | CA368977208 | CFTR | c.737A>T (p.Lys246Met) c.*634A>T (n.*634A>T) c.*561A>T (n.*561A>T) c.494A>T (p.Lys165Met) c.647A>T (p.Lys216Met) c.827A>T (p.Lys276Met) | |
| 7 | g.117535406G>A | CA4450813 | CFTR | c.738G>A (p.Lys246=) c.*635G>A (n.*635G>A) c.*562G>A (n.*562G>A) c.495G>A (p.Lys165=) c.648G>A (p.Lys216=) c.828G>A (p.Lys276=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117535406G>C | CA368977211 | CFTR | c.738G>C (p.Lys246Asn) c.*635G>C (n.*635G>C) c.*562G>C (n.*562G>C) c.495G>C (p.Lys165Asn) c.648G>C (p.Lys216Asn) c.828G>C (p.Lys276Asn) | |
| 7 | g.117535406G= | CA1737362208 | CFTR | c.738G= (p.Lys246=) c.*635G= (n.*635G=) c.*562G= (n.*562G=) c.495G= (p.Lys165=) c.648G= (p.Lys216=) c.828G= (p.Lys276=) | |
| 7 | g.117535406G>T | CA368977210 | CFTR | c.738G>T (p.Lys246Asn) c.*635G>T (n.*635G>T) c.*562G>T (n.*562G>T) c.495G>T (p.Lys165Asn) c.648G>T (p.Lys216Asn) c.828G>T (p.Lys276Asn) | |
| 7 | g.117535407T>A | CA368977214 | CFTR | c.739T>A (p.Tyr247Asn) c.*636T>A (n.*636T>A) c.*563T>A (n.*563T>A) c.496T>A (p.Tyr166Asn) c.649T>A (p.Tyr217Asn) c.829T>A (p.Tyr277Asn) | |
| 7 | g.117535407T>C | CA368977216 | CFTR | c.739T>C (p.Tyr247His) c.*636T>C (n.*636T>C) c.*563T>C (n.*563T>C) c.496T>C (p.Tyr166His) c.649T>C (p.Tyr217His) c.829T>C (p.Tyr277His) | |
| 7 | g.117535407T>G | CA368977217 | CFTR | c.739T>G (p.Tyr247Asp) c.*636T>G (n.*636T>G) c.*563T>G (n.*563T>G) c.496T>G (p.Tyr166Asp) c.649T>G (p.Tyr217Asp) c.829T>G (p.Tyr277Asp) | |
| 7 | g.117535407_117535410dup | CA16041125 | CFTR | c.739_742dup (p.Arg248IlefsTer11) c.*636_*639dup (n.*636_*639dup) c.*563_*566dup (n.*563_*566dup) c.496_499dup (p.Arg167IlefsTer11) c.649_652dup (p.Arg218IlefsTer11) c.829_832dup (p.Arg278IlefsTer11) | ClinVar dbSNP |
| 7 | g.117535408A>C | CA368977219 | CFTR | c.740A>C (p.Tyr247Ser) c.*637A>C (n.*637A>C) c.*564A>C (n.*564A>C) c.497A>C (p.Tyr166Ser) c.650A>C (p.Tyr217Ser) c.830A>C (p.Tyr277Ser) | |
| 7 | g.117535408A>G | CA368977220 | CFTR | c.740A>G (p.Tyr247Cys) c.*637A>G (n.*637A>G) c.*564A>G (n.*564A>G) c.497A>G (p.Tyr166Cys) c.650A>G (p.Tyr217Cys) c.830A>G (p.Tyr277Cys) | gnomAD v4 |
| 7 | g.117535408A>T | CA368977221 | CFTR | c.740A>T (p.Tyr247Phe) c.*637A>T (n.*637A>T) c.*564A>T (n.*564A>T) c.497A>T (p.Tyr166Phe) c.650A>T (p.Tyr217Phe) c.830A>T (p.Tyr277Phe) | |
| 7 | g.117535409C>A | CA368977223 | CFTR | c.741C>A (p.Tyr247Ter) c.*638C>A (n.*638C>A) c.*565C>A (n.*565C>A) c.498C>A (p.Tyr166Ter) c.651C>A (p.Tyr217Ter) c.831C>A (p.Tyr277Ter) | ClinVar dbSNP |
| 7 | g.117535409C= | CA1737362209 | CFTR | c.741C= (p.Tyr247=) c.*638C= (n.*638C=) c.*565C= (n.*565C=) c.498C= (p.Tyr166=) c.651C= (p.Tyr217=) c.831C= (p.Tyr277=) | |
| 7 | g.117535409C>G | CA327641 | CFTR | c.741C>G (p.Tyr247Ter) c.*638C>G (n.*638C>G) c.*565C>G (n.*565C>G) c.498C>G (p.Tyr166Ter) c.651C>G (p.Tyr217Ter) c.831C>G (p.Tyr277Ter) | ClinVar dbSNP |
| 7 | g.117535409C>T | CA164945759 | CFTR | c.741C>T (p.Tyr247=) c.*638C>T (n.*638C>T) c.*565C>T (n.*565C>T) c.498C>T (p.Tyr166=) c.651C>T (p.Tyr217=) c.831C>T (p.Tyr277=) | dbSNP |
| 7 | g.117535410A= | CA1737362210 | CFTR | c.742A= (p.Arg248=) c.*639A= (n.*639A=) c.*566A= (n.*566A=) c.499A= (p.Arg167=) c.652A= (p.Arg218=) c.832A= (p.Arg278=) | |
| 7 | g.117535410A>C | CA457227281 | CFTR | c.742A>C (p.Arg248=) c.*639A>C (n.*639A>C) c.*566A>C (n.*566A>C) c.499A>C (p.Arg167=) c.652A>C (p.Arg218=) c.832A>C (p.Arg278=) | |
| 7 | g.117535410A>G | CA368977225 | CFTR | c.742A>G (p.Arg248Gly) c.*639A>G (n.*639A>G) c.*566A>G (n.*566A>G) c.499A>G (p.Arg167Gly) c.652A>G (p.Arg218Gly) c.832A>G (p.Arg278Gly) | ClinVar dbSNP |
| 7 | g.117535410A>T | CA368977227 | CFTR | c.742A>T (p.Arg248Ter) c.*639A>T (n.*639A>T) c.*566A>T (n.*566A>T) c.499A>T (p.Arg167Ter) c.652A>T (p.Arg218Ter) c.832A>T (p.Arg278Ter) | ClinVar dbSNP |
| 7 | g.117535411G>A | CA4450814 | CFTR | c.743G>A (p.Arg248Lys) c.*640G>A (n.*640G>A) c.*567G>A (n.*567G>A) c.500G>A (p.Arg167Lys) c.653G>A (p.Arg218Lys) c.833G>A (p.Arg278Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117535411G>C | CA327645 | CFTR | c.743G>C (p.Arg248Thr) c.*640G>C (n.*640G>C) c.*567G>C (n.*567G>C) c.500G>C (p.Arg167Thr) c.653G>C (p.Arg218Thr) c.833G>C (p.Arg278Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117535411G= | CA1737362211 | CFTR | c.743G= (p.Arg248=) c.*640G= (n.*640G=) c.*567G= (n.*567G=) c.500G= (p.Arg167=) c.653G= (p.Arg218=) c.833G= (p.Arg278=) | |
| 7 | g.117535411G>T | CA368977229 | CFTR | c.743G>T (p.Arg248Ile) c.*640G>T (n.*640G>T) c.*567G>T (n.*567G>T) c.500G>T (p.Arg167Ile) c.653G>T (p.Arg218Ile) c.833G>T (p.Arg278Ile) | |
| 7 | g.117535412G>A | CA327643 | CFTR | c.743+1G>A (n.743+1G>A) c.*640+1G>A (n.*640+1G>A) c.*567+1G>A (n.*567+1G>A) c.500+1G>A (n.500+1G>A) c.653+1G>A (n.653+1G>A) c.833+1G>A (n.833+1G>A) | ClinVar dbSNP |
| 7 | g.117535412G>C | CA327644 | CFTR | c.743+1G>C (n.743+1G>C) c.*640+1G>C (n.*640+1G>C) c.*567+1G>C (n.*567+1G>C) c.500+1G>C (n.500+1G>C) c.653+1G>C (n.653+1G>C) c.833+1G>C (n.833+1G>C) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117535412G= | CA1737362212 | CFTR | c.743+1G= (n.743+1G=) c.*640+1G= (n.*640+1G=) c.*567+1G= (n.*567+1G=) c.500+1G= (n.500+1G=) c.653+1G= (n.653+1G=) c.833+1G= (n.833+1G=) | |
| 7 | g.117535412G>T | CA368977232 | CFTR | c.743+1G>T (n.743+1G>T) c.*640+1G>T (n.*640+1G>T) c.*567+1G>T (n.*567+1G>T) c.500+1G>T (n.500+1G>T) c.653+1G>T (n.653+1G>T) c.833+1G>T (n.833+1G>T) | gnomAD v4 |
| 7 | g.117535413T>A | CA368977233 | CFTR | c.743+2T>A (n.743+2T>A) c.*640+2T>A (n.*640+2T>A) c.*567+2T>A (n.*567+2T>A) c.500+2T>A (n.500+2T>A) c.653+2T>A (n.653+2T>A) c.833+2T>A (n.833+2T>A) | |
| 7 | g.117535413T>C | CA368977235 | CFTR | c.743+2T>C (n.743+2T>C) c.*640+2T>C (n.*640+2T>C) c.*567+2T>C (n.*567+2T>C) c.500+2T>C (n.500+2T>C) c.653+2T>C (n.653+2T>C) c.833+2T>C (n.833+2T>C) | ClinVar dbSNP |
| 7 | g.117535413T>G | CA368977236 | CFTR | c.743+2T>G (n.743+2T>G) c.*640+2T>G (n.*640+2T>G) c.*567+2T>G (n.*567+2T>G) c.500+2T>G (n.500+2T>G) c.653+2T>G (n.653+2T>G) c.833+2T>G (n.833+2T>G) | |
| 7 | g.117535413T= | CA1737362213 | CFTR | c.743+2T= (n.743+2T=) c.*640+2T= (n.*640+2T=) c.*567+2T= (n.*567+2T=) c.500+2T= (n.500+2T=) c.653+2T= (n.653+2T=) c.833+2T= (n.833+2T=) | |
| 7 | g.117535414A= | CA1737362214 | CFTR | c.743+3A= (n.743+3A=) c.*640+3A= (n.*640+3A=) c.*567+3A= (n.*567+3A=) c.500+3A= (n.500+3A=) c.653+3A= (n.653+3A=) c.833+3A= (n.833+3A=) | |
| 7 | g.117535414A>G | CA577680179 | CFTR | c.743+3A>G (n.743+3A>G) c.*640+3A>G (n.*640+3A>G) c.*567+3A>G (n.*567+3A>G) c.500+3A>G (n.500+3A>G) c.653+3A>G (n.653+3A>G) c.833+3A>G (n.833+3A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117535415G>A | CA2684617655 | CFTR | c.743+4G>A (n.743+4G>A) c.*640+4G>A (n.*640+4G>A) c.*567+4G>A (n.*567+4G>A) c.500+4G>A (n.500+4G>A) c.653+4G>A (n.653+4G>A) c.833+4G>A (n.833+4G>A) | gnomAD v4 |
| 7 | g.117535415G= | CA1737362215 | CFTR | c.743+4G= (n.743+4G=) c.*640+4G= (n.*640+4G=) c.*567+4G= (n.*567+4G=) c.500+4G= (n.500+4G=) c.653+4G= (n.653+4G=) c.833+4G= (n.833+4G=) | |
| 7 | g.117535415G>T | CA260258 | CFTR | c.743+4G>T (n.743+4G>T) c.*640+4G>T (n.*640+4G>T) c.*567+4G>T (n.*567+4G>T) c.500+4G>T (n.500+4G>T) c.653+4G>T (n.653+4G>T) c.833+4G>T (n.833+4G>T) | ClinVar dbSNP |
| 7 | g.117535416C>A | CA2579000099 | CFTR | c.743+5C>A (n.743+5C>A) c.*640+5C>A (n.*640+5C>A) c.*567+5C>A (n.*567+5C>A) c.500+5C>A (n.500+5C>A) c.653+5C>A (n.653+5C>A) c.833+5C>A (n.833+5C>A) | |
| 7 | g.117535418A>T | CA2740880951 | CFTR | c.743+7A>T (n.743+7A>T) c.*640+7A>T (n.*640+7A>T) c.*567+7A>T (n.*567+7A>T) c.500+7A>T (n.500+7A>T) c.653+7A>T (n.653+7A>T) c.833+7A>T (n.833+7A>T) | |
| 7 | g.117535419C>T | CA2580076373 | CFTR | c.743+8C>T (n.743+8C>T) c.*640+8C>T (n.*640+8C>T) c.*567+8C>T (n.*567+8C>T) c.500+8C>T (n.500+8C>T) c.653+8C>T (n.653+8C>T) c.833+8C>T (n.833+8C>T) | ClinVar gnomAD v4 |
| 7 | g.117535420C>G | CA2684617656 | CFTR | c.743+9C>G (n.743+9C>G) c.*640+9C>G (n.*640+9C>G) c.*567+9C>G (n.*567+9C>G) c.500+9C>G (n.500+9C>G) c.653+9C>G (n.653+9C>G) c.833+9C>G (n.833+9C>G) | ClinVar gnomAD v4 |
| 7 | g.117535422A>G | CA2580617097 | CFTR | c.743+11A>G (n.743+11A>G) c.*640+11A>G (n.*640+11A>G) c.*567+11A>G (n.*567+11A>G) c.500+11A>G (n.500+11A>G) c.653+11A>G (n.653+11A>G) c.833+11A>G (n.833+11A>G) | ClinVar gnomAD v4 |
| 7 | g.117535422A>T | CA2684617657 | CFTR | c.743+11A>T (n.743+11A>T) c.*640+11A>T (n.*640+11A>T) c.*567+11A>T (n.*567+11A>T) c.500+11A>T (n.500+11A>T) c.653+11A>T (n.653+11A>T) c.833+11A>T (n.833+11A>T) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117535422_117535423delinsAT | CA1737362216 | CFTR | c.743+11_743+12delinsAT (n.743+11_743+12delinsAT) c.*640+11_*640+12delinsAT (n.*640+11_*640+12delinsAT) c.*567+11_*567+12delinsAT (n.*567+11_*567+12delinsAT) c.500+11_500+12delinsAT (n.500+11_500+12delinsAT) c.653+11_653+12delinsAT (n.653+11_653+12delinsAT) c.833+11_833+12delinsAT (n.833+11_833+12delinsAT) | |
| 7 | g.117535426del | CA1106309304 | CFTR | c.743+15del (n.743+15del) c.*640+15del (n.*640+15del) c.*567+15del (n.*567+15del) c.500+15del (n.500+15del) c.653+15del (n.653+15del) c.833+15del (n.833+15del) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117535424T>G | CA164945774 | CFTR | c.743+13T>G (n.743+13T>G) c.*640+13T>G (n.*640+13T>G) c.*567+13T>G (n.*567+13T>G) c.500+13T>G (n.500+13T>G) c.653+13T>G (n.653+13T>G) c.833+13T>G (n.833+13T>G) | dbSNP |
| 7 | g.117535424T= | CA1737362217 | CFTR | c.743+13T= (n.743+13T=) c.*640+13T= (n.*640+13T=) c.*567+13T= (n.*567+13T=) c.500+13T= (n.500+13T=) c.653+13T= (n.653+13T=) c.833+13T= (n.833+13T=) | |
| 7 | g.117535425T>A | CA2684617658 | CFTR | c.743+14T>A (n.743+14T>A) c.*640+14T>A (n.*640+14T>A) c.*567+14T>A (n.*567+14T>A) c.500+14T>A (n.500+14T>A) c.653+14T>A (n.653+14T>A) c.833+14T>A (n.833+14T>A) | gnomAD v4 |
| 7 | g.117535426T>C | CA2684617659 | CFTR | c.743+15T>C (n.743+15T>C) c.*640+15T>C (n.*640+15T>C) c.*567+15T>C (n.*567+15T>C) c.500+15T>C (n.500+15T>C) c.653+15T>C (n.653+15T>C) c.833+15T>C (n.833+15T>C) | gnomAD v4 |
| 7 | g.117535427C>A | CA2684617660 | CFTR | c.743+16C>A (n.743+16C>A) c.*640+16C>A (n.*640+16C>A) c.*567+16C>A (n.*567+16C>A) c.500+16C>A (n.500+16C>A) c.653+16C>A (n.653+16C>A) c.833+16C>A (n.833+16C>A) | gnomAD v4 |
| 7 | g.117535427C= | CA1737362218 | CFTR | c.743+16C= (n.743+16C=) c.*640+16C= (n.*640+16C=) c.*567+16C= (n.*567+16C=) c.500+16C= (n.500+16C=) c.653+16C= (n.653+16C=) c.833+16C= (n.833+16C=) | |
| 7 | g.117535427C>G | CA2579000100 | CFTR | c.743+16C>G (n.743+16C>G) c.*640+16C>G (n.*640+16C>G) c.*567+16C>G (n.*567+16C>G) c.500+16C>G (n.500+16C>G) c.653+16C>G (n.653+16C>G) c.833+16C>G (n.833+16C>G) | ClinVar |
| 7 | g.117535427C>T | CA4450815 | CFTR | c.743+16C>T (n.743+16C>T) c.*640+16C>T (n.*640+16C>T) c.*567+16C>T (n.*567+16C>T) c.500+16C>T (n.500+16C>T) c.653+16C>T (n.653+16C>T) c.833+16C>T (n.833+16C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117535428A= | CA1737362219 | CFTR | c.743+17A= (n.743+17A=) c.*640+17A= (n.*640+17A=) c.*567+17A= (n.*567+17A=) c.500+17A= (n.500+17A=) c.653+17A= (n.653+17A=) c.833+17A= (n.833+17A=) | |
| 7 | g.117535428A>G | CA577680180 | CFTR | c.743+17A>G (n.743+17A>G) c.*640+17A>G (n.*640+17A>G) c.*567+17A>G (n.*567+17A>G) c.500+17A>G (n.500+17A>G) c.653+17A>G (n.653+17A>G) c.833+17A>G (n.833+17A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117535428A>T | CA1737362220 | CFTR | c.743+17A>T (n.743+17A>T) c.*640+17A>T (n.*640+17A>T) c.*567+17A>T (n.*567+17A>T) c.500+17A>T (n.500+17A>T) c.653+17A>T (n.653+17A>T) c.833+17A>T (n.833+17A>T) | dbSNP gnomAD v4 |
| 7 | g.117535429T>A | CA2684617661 | CFTR | c.743+18T>A (n.743+18T>A) c.*640+18T>A (n.*640+18T>A) c.*567+18T>A (n.*567+18T>A) c.500+18T>A (n.500+18T>A) c.653+18T>A (n.653+18T>A) c.833+18T>A (n.833+18T>A) | gnomAD v4 |
| 7 | g.117535431A>G | CA2715545190 | CFTR | c.743+20A>G (n.743+20A>G) c.*640+20A>G (n.*640+20A>G) c.*567+20A>G (n.*567+20A>G) c.500+20A>G (n.500+20A>G) c.653+20A>G (n.653+20A>G) c.833+20A>G (n.833+20A>G) | dbSNP |