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.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 |
| 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) | ClinVar |
| 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 |