WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| 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.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) |