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.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.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=) |