| 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 |