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 |
|---|---|---|---|---|---|
| 3 | g.39394487A>C | CA352205122 | SLC25A38 | c.655A>C (p.Thr219Pro) c.652A>C (p.Thr218Pro) c.649A>C (p.Thr217Pro) c.759A>C (p.Ter253Tyr) c.703A>C (p.Thr235Pro) c.691A>C (p.Thr231Pro) c.685A>C (p.Thr229Pro) c.523A>C (p.Thr175Pro) c.626-1911A>C (n.626-1911A>C) | |
| 3 | g.39394487A>G | CA352205124 | SLC25A38 | c.655A>G (p.Thr219Ala) c.652A>G (p.Thr218Ala) c.649A>G (p.Thr217Ala) c.759A>G (p.Ter253=) c.703A>G (p.Thr235Ala) c.691A>G (p.Thr231Ala) c.685A>G (p.Thr229Ala) c.523A>G (p.Thr175Ala) c.626-1911A>G (n.626-1911A>G) | gnomAD v4 |
| 3 | g.39394487A>T | CA352205127 | SLC25A38 | c.655A>T (p.Thr219Ser) c.652A>T (p.Thr218Ser) c.649A>T (p.Thr217Ser) c.759A>T (p.Ter253Tyr) c.703A>T (p.Thr235Ser) c.691A>T (p.Thr231Ser) c.685A>T (p.Thr229Ser) c.523A>T (p.Thr175Ser) c.626-1911A>T (n.626-1911A>T) | |
| 3 | g.39394488C>A | CA352205130 | SLC25A38 | c.656C>A (p.Thr219Asn) c.653C>A (p.Thr218Asn) c.650C>A (p.Thr217Asn) c.*1C>A (n.*1C>A) c.704C>A (p.Thr235Asn) c.692C>A (p.Thr231Asn) c.686C>A (p.Thr229Asn) c.524C>A (p.Thr175Asn) c.626-1910C>A (n.626-1910C>A) | |
| 3 | g.39394488C>G | CA352205145 | SLC25A38 | c.656C>G (p.Thr219Ser) c.653C>G (p.Thr218Ser) c.650C>G (p.Thr217Ser) c.*1C>G (n.*1C>G) c.704C>G (p.Thr235Ser) c.692C>G (p.Thr231Ser) c.686C>G (p.Thr229Ser) c.524C>G (p.Thr175Ser) c.626-1910C>G (n.626-1910C>G) | |
| 3 | g.39394488C>T | CA352205147 | SLC25A38 | c.656C>T (p.Thr219Ile) c.653C>T (p.Thr218Ile) c.650C>T (p.Thr217Ile) c.*1C>T (n.*1C>T) c.704C>T (p.Thr235Ile) c.692C>T (p.Thr231Ile) c.686C>T (p.Thr229Ile) c.524C>T (p.Thr175Ile) c.626-1910C>T (n.626-1910C>T) | |
| 3 | g.39394489T>A | CA433164604 | SLC25A38 | c.657T>A (p.Thr219=) c.654T>A (p.Thr218=) c.651T>A (p.Thr217=) c.*2T>A (n.*2T>A) c.705T>A (p.Thr235=) c.693T>A (p.Thr231=) c.687T>A (p.Thr229=) c.525T>A (p.Thr175=) c.626-1909T>A (n.626-1909T>A) | |
| 3 | g.39394489T>C | CA433164607 | SLC25A38 | c.657T>C (p.Thr219=) c.654T>C (p.Thr218=) c.651T>C (p.Thr217=) c.*2T>C (n.*2T>C) c.705T>C (p.Thr235=) c.693T>C (p.Thr231=) c.687T>C (p.Thr229=) c.525T>C (p.Thr175=) c.626-1909T>C (n.626-1909T>C) | |
| 3 | g.39394489T>G | CA433164610 | SLC25A38 | c.657T>G (p.Thr219=) c.654T>G (p.Thr218=) c.651T>G (p.Thr217=) c.*2T>G (n.*2T>G) c.705T>G (p.Thr235=) c.693T>G (p.Thr231=) c.687T>G (p.Thr229=) c.525T>G (p.Thr175=) c.626-1909T>G (n.626-1909T>G) | |
| 3 | g.39394490C>A | CA352205152 | SLC25A38 | c.658C>A (p.Gln220Lys) c.655C>A (p.Gln219Lys) c.652C>A (p.Gln218Lys) c.*3C>A (n.*3C>A) c.706C>A (p.Gln236Lys) c.694C>A (p.Gln232Lys) c.688C>A (p.Gln230Lys) c.526C>A (p.Gln176Lys) c.626-1908C>A (n.626-1908C>A) | |
| 3 | g.39394490C= | CA1358939300 | SLC25A38 | c.658C= (p.Gln220=) c.655C= (p.Gln219=) c.652C= (p.Gln218=) c.*3C= (n.*3C=) c.706C= (p.Gln236=) c.694C= (p.Gln232=) c.688C= (p.Gln230=) c.526C= (p.Gln176=) c.626-1908C= (n.626-1908C=) | |
| 3 | g.39394490C>G | CA352205154 | SLC25A38 | c.658C>G (p.Gln220Glu) c.655C>G (p.Gln219Glu) c.652C>G (p.Gln218Glu) c.*3C>G (n.*3C>G) c.706C>G (p.Gln236Glu) c.694C>G (p.Gln232Glu) c.688C>G (p.Gln230Glu) c.526C>G (p.Gln176Glu) c.626-1908C>G (n.626-1908C>G) | |
| 3 | g.39394490C>T | CA2327534 | SLC25A38 | c.658C>T (p.Gln220Ter) c.655C>T (p.Gln219Ter) c.652C>T (p.Gln218Ter) c.*3C>T (n.*3C>T) c.706C>T (p.Gln236Ter) c.694C>T (p.Gln232Ter) c.688C>T (p.Gln230Ter) c.526C>T (p.Gln176Ter) c.626-1908C>T (n.626-1908C>T) | dbSNP ExAC gnomAD v2 |
| 3 | g.39394491A>C | CA352205157 | SLC25A38 | c.659A>C (p.Gln220Pro) c.656A>C (p.Gln219Pro) c.653A>C (p.Gln218Pro) c.*4A>C (n.*4A>C) c.707A>C (p.Gln236Pro) c.695A>C (p.Gln232Pro) c.689A>C (p.Gln230Pro) c.527A>C (p.Gln176Pro) c.626-1907A>C (n.626-1907A>C) | |
| 3 | g.39394491A>G | CA352205155 | SLC25A38 | c.659A>G (p.Gln220Arg) c.656A>G (p.Gln219Arg) c.653A>G (p.Gln218Arg) c.*4A>G (n.*4A>G) c.707A>G (p.Gln236Arg) c.695A>G (p.Gln232Arg) c.689A>G (p.Gln230Arg) c.527A>G (p.Gln176Arg) c.626-1907A>G (n.626-1907A>G) | |
| 3 | g.39394491A>T | CA352205156 | SLC25A38 | c.659A>T (p.Gln220Leu) c.656A>T (p.Gln219Leu) c.653A>T (p.Gln218Leu) c.*4A>T (n.*4A>T) c.707A>T (p.Gln236Leu) c.695A>T (p.Gln232Leu) c.689A>T (p.Gln230Leu) c.527A>T (p.Gln176Leu) c.626-1907A>T (n.626-1907A>T) | |
| 3 | g.39394492A>C | CA352205161 | SLC25A38 | c.660A>C (p.Gln220His) c.657A>C (p.Gln219His) c.654A>C (p.Gln218His) c.*5A>C (n.*5A>C) c.708A>C (p.Gln236His) c.696A>C (p.Gln232His) c.690A>C (p.Gln230His) c.528A>C (p.Gln176His) c.626-1906A>C (n.626-1906A>C) | |
| 3 | g.39394492A>G | CA433164633 | SLC25A38 | c.660A>G (p.Gln220=) c.657A>G (p.Gln219=) c.654A>G (p.Gln218=) c.*5A>G (n.*5A>G) c.708A>G (p.Gln236=) c.696A>G (p.Gln232=) c.690A>G (p.Gln230=) c.528A>G (p.Gln176=) c.626-1906A>G (n.626-1906A>G) | |
| 3 | g.39394492A>T | CA352205163 | SLC25A38 | c.660A>T (p.Gln220His) c.657A>T (p.Gln219His) c.654A>T (p.Gln218His) c.*5A>T (n.*5A>T) c.708A>T (p.Gln236His) c.696A>T (p.Gln232His) c.690A>T (p.Gln230His) c.528A>T (p.Gln176His) c.626-1906A>T (n.626-1906A>T) | |
| 3 | g.39394493C>A | CA352205167 | SLC25A38 | c.661C>A (p.Pro221Thr) c.658C>A (p.Pro220Thr) c.655C>A (p.Pro219Thr) c.*6C>A (n.*6C>A) c.709C>A (p.Pro237Thr) c.697C>A (p.Pro233Thr) c.691C>A (p.Pro231Thr) c.529C>A (p.Pro177Thr) c.626-1905C>A (n.626-1905C>A) | dbSNP |
| 3 | g.39394493C= | CA1358939301 | SLC25A38 | c.661C= (p.Pro221=) c.658C= (p.Pro220=) c.655C= (p.Pro219=) c.*6C= (n.*6C=) c.709C= (p.Pro237=) c.697C= (p.Pro233=) c.691C= (p.Pro231=) c.529C= (p.Pro177=) c.626-1905C= (n.626-1905C=) | |
| 3 | g.39394493C>G | CA352205176 | SLC25A38 | c.661C>G (p.Pro221Ala) c.658C>G (p.Pro220Ala) c.655C>G (p.Pro219Ala) c.*6C>G (n.*6C>G) c.709C>G (p.Pro237Ala) c.697C>G (p.Pro233Ala) c.691C>G (p.Pro231Ala) c.529C>G (p.Pro177Ala) c.626-1905C>G (n.626-1905C>G) | |
| 3 | g.39394493C>T | CA352205185 | SLC25A38 | c.661C>T (p.Pro221Ser) c.658C>T (p.Pro220Ser) c.655C>T (p.Pro219Ser) c.*6C>T (n.*6C>T) c.709C>T (p.Pro237Ser) c.697C>T (p.Pro233Ser) c.691C>T (p.Pro231Ser) c.529C>T (p.Pro177Ser) c.626-1905C>T (n.626-1905C>T) | dbSNP |
| 3 | g.39394494C>A | CA352205209 | SLC25A38 | c.662C>A (p.Pro221His) c.659C>A (p.Pro220His) c.656C>A (p.Pro219His) c.*7C>A (n.*7C>A) c.710C>A (p.Pro237His) c.698C>A (p.Pro233His) c.692C>A (p.Pro231His) c.530C>A (p.Pro177His) c.626-1904C>A (n.626-1904C>A) | |
| 3 | g.39394494C>G | CA352205211 | SLC25A38 | c.662C>G (p.Pro221Arg) c.659C>G (p.Pro220Arg) c.656C>G (p.Pro219Arg) c.*7C>G (n.*7C>G) c.710C>G (p.Pro237Arg) c.698C>G (p.Pro233Arg) c.692C>G (p.Pro231Arg) c.530C>G (p.Pro177Arg) c.626-1904C>G (n.626-1904C>G) | |
| 3 | g.39394494C>T | CA352205215 | SLC25A38 | c.662C>T (p.Pro221Leu) c.659C>T (p.Pro220Leu) c.656C>T (p.Pro219Leu) c.*7C>T (n.*7C>T) c.710C>T (p.Pro237Leu) c.698C>T (p.Pro233Leu) c.692C>T (p.Pro231Leu) c.530C>T (p.Pro177Leu) c.626-1904C>T (n.626-1904C>T) | |
| 3 | g.39394495T>A | CA433164659 | SLC25A38 | c.663T>A (p.Pro221=) c.660T>A (p.Pro220=) c.657T>A (p.Pro219=) c.*8T>A (n.*8T>A) c.711T>A (p.Pro237=) c.699T>A (p.Pro233=) c.693T>A (p.Pro231=) c.531T>A (p.Pro177=) c.626-1903T>A (n.626-1903T>A) | gnomAD v4 |
| 3 | g.39394495T>C | CA433164652 | SLC25A38 | c.663T>C (p.Pro221=) c.660T>C (p.Pro220=) c.657T>C (p.Pro219=) c.*8T>C (n.*8T>C) c.711T>C (p.Pro237=) c.699T>C (p.Pro233=) c.693T>C (p.Pro231=) c.531T>C (p.Pro177=) c.626-1903T>C (n.626-1903T>C) | |
| 3 | g.39394495T>G | CA433164657 | SLC25A38 | c.663T>G (p.Pro221=) c.660T>G (p.Pro220=) c.657T>G (p.Pro219=) c.*8T>G (n.*8T>G) c.711T>G (p.Pro237=) c.699T>G (p.Pro233=) c.693T>G (p.Pro231=) c.531T>G (p.Pro177=) c.626-1903T>G (n.626-1903T>G) | |
| 3 | g.39394496G>A | CA352205221 | SLC25A38 | c.664G>A (p.Ala222Thr) c.661G>A (p.Ala221Thr) c.658G>A (p.Ala220Thr) c.*9G>A (n.*9G>A) c.712G>A (p.Ala238Thr) c.700G>A (p.Ala234Thr) c.694G>A (p.Ala232Thr) c.532G>A (p.Ala178Thr) c.626-1902G>A (n.626-1902G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.39394496G>C | CA352205222 | SLC25A38 | c.664G>C (p.Ala222Pro) c.661G>C (p.Ala221Pro) c.658G>C (p.Ala220Pro) c.*9G>C (n.*9G>C) c.712G>C (p.Ala238Pro) c.700G>C (p.Ala234Pro) c.694G>C (p.Ala232Pro) c.532G>C (p.Ala178Pro) c.626-1902G>C (n.626-1902G>C) | |
| 3 | g.39394496G= | CA1358939302 | SLC25A38 | c.664G= (p.Ala222=) c.661G= (p.Ala221=) c.658G= (p.Ala220=) c.*9G= (n.*9G=) c.712G= (p.Ala238=) c.700G= (p.Ala234=) c.694G= (p.Ala232=) c.532G= (p.Ala178=) c.626-1902G= (n.626-1902G=) | |
| 3 | g.39394496G>T | CA352205223 | SLC25A38 | c.664G>T (p.Ala222Ser) c.661G>T (p.Ala221Ser) c.658G>T (p.Ala220Ser) c.*9G>T (n.*9G>T) c.712G>T (p.Ala238Ser) c.700G>T (p.Ala234Ser) c.694G>T (p.Ala232Ser) c.532G>T (p.Ala178Ser) c.626-1902G>T (n.626-1902G>T) | gnomAD v4 |
| 3 | g.39394497C>A | CA352205228 | SLC25A38 | c.665C>A (p.Ala222Glu) c.662C>A (p.Ala221Glu) c.659C>A (p.Ala220Glu) c.*10C>A (n.*10C>A) c.713C>A (p.Ala238Glu) c.701C>A (p.Ala234Glu) c.695C>A (p.Ala232Glu) c.533C>A (p.Ala178Glu) c.626-1901C>A (n.626-1901C>A) | |
| 3 | g.39394497C= | CA1358939303 | SLC25A38 | c.665C= (p.Ala222=) c.662C= (p.Ala221=) c.659C= (p.Ala220=) c.*10C= (n.*10C=) c.713C= (p.Ala238=) c.701C= (p.Ala234=) c.695C= (p.Ala232=) c.533C= (p.Ala178=) c.626-1901C= (n.626-1901C=) | |
| 3 | g.39394497C>G | CA352205224 | SLC25A38 | c.665C>G (p.Ala222Gly) c.662C>G (p.Ala221Gly) c.659C>G (p.Ala220Gly) c.*10C>G (n.*10C>G) c.713C>G (p.Ala238Gly) c.701C>G (p.Ala234Gly) c.695C>G (p.Ala232Gly) c.533C>G (p.Ala178Gly) c.626-1901C>G (n.626-1901C>G) | |
| 3 | g.39394497C>T | CA2327535 | SLC25A38 | c.665C>T (p.Ala222Val) c.662C>T (p.Ala221Val) c.659C>T (p.Ala220Val) c.*10C>T (n.*10C>T) c.713C>T (p.Ala238Val) c.701C>T (p.Ala234Val) c.695C>T (p.Ala232Val) c.533C>T (p.Ala178Val) c.626-1901C>T (n.626-1901C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.39394498G>A | CA2327536 | SLC25A38 | c.666G>A (p.Ala222=) c.663G>A (p.Ala221=) c.660G>A (p.Ala220=) c.*11G>A (n.*11G>A) c.714G>A (p.Ala238=) c.702G>A (p.Ala234=) c.696G>A (p.Ala232=) c.534G>A (p.Ala178=) c.626-1900G>A (n.626-1900G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.39394498G>C | CA433164684 | SLC25A38 | c.666G>C (p.Ala222=) c.663G>C (p.Ala221=) c.660G>C (p.Ala220=) c.*11G>C (n.*11G>C) c.714G>C (p.Ala238=) c.702G>C (p.Ala234=) c.696G>C (p.Ala232=) c.534G>C (p.Ala178=) c.626-1900G>C (n.626-1900G>C) | |
| 3 | g.39394498G= | CA1358939304 | SLC25A38 | c.666G= (p.Ala222=) c.663G= (p.Ala221=) c.660G= (p.Ala220=) c.*11G= (n.*11G=) c.714G= (p.Ala238=) c.702G= (p.Ala234=) c.696G= (p.Ala232=) c.534G= (p.Ala178=) c.626-1900G= (n.626-1900G=) | |
| 3 | g.39394498G>T | CA433164682 | SLC25A38 | c.666G>T (p.Ala222=) c.663G>T (p.Ala221=) c.660G>T (p.Ala220=) c.*11G>T (n.*11G>T) c.714G>T (p.Ala238=) c.702G>T (p.Ala234=) c.696G>T (p.Ala232=) c.534G>T (p.Ala178=) c.626-1900G>T (n.626-1900G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.39394499G>A | CA352205236 | SLC25A38 | c.667G>A (p.Asp223Asn) c.664G>A (p.Asp222Asn) c.661G>A (p.Asp221Asn) c.*12G>A (n.*12G>A) c.715G>A (p.Asp239Asn) c.703G>A (p.Asp235Asn) c.697G>A (p.Asp233Asn) c.535G>A (p.Asp179Asn) c.626-1899G>A (n.626-1899G>A) | |
| 3 | g.39394499G>C | CA352205247 | SLC25A38 | c.667G>C (p.Asp223His) c.664G>C (p.Asp222His) c.661G>C (p.Asp221His) c.*12G>C (n.*12G>C) c.715G>C (p.Asp239His) c.703G>C (p.Asp235His) c.697G>C (p.Asp233His) c.535G>C (p.Asp179His) c.626-1899G>C (n.626-1899G>C) | |
| 3 | g.39394499G>T | CA352205250 | SLC25A38 | c.667G>T (p.Asp223Tyr) c.664G>T (p.Asp222Tyr) c.661G>T (p.Asp221Tyr) c.*12G>T (n.*12G>T) c.715G>T (p.Asp239Tyr) c.703G>T (p.Asp235Tyr) c.697G>T (p.Asp233Tyr) c.535G>T (p.Asp179Tyr) c.626-1899G>T (n.626-1899G>T) | |
| 3 | g.39394500A>C | CA352205251 | SLC25A38 | c.668A>C (p.Asp223Ala) c.665A>C (p.Asp222Ala) c.662A>C (p.Asp221Ala) c.*13A>C (n.*13A>C) c.716A>C (p.Asp239Ala) c.704A>C (p.Asp235Ala) c.698A>C (p.Asp233Ala) c.536A>C (p.Asp179Ala) c.626-1898A>C (n.626-1898A>C) | |
| 3 | g.39394500A>G | CA352205252 | SLC25A38 | c.668A>G (p.Asp223Gly) c.665A>G (p.Asp222Gly) c.662A>G (p.Asp221Gly) c.*13A>G (n.*13A>G) c.716A>G (p.Asp239Gly) c.704A>G (p.Asp235Gly) c.698A>G (p.Asp233Gly) c.536A>G (p.Asp179Gly) c.626-1898A>G (n.626-1898A>G) | |
| 3 | g.39394500A>T | CA352205253 | SLC25A38 | c.668A>T (p.Asp223Val) c.665A>T (p.Asp222Val) c.662A>T (p.Asp221Val) c.*13A>T (n.*13A>T) c.716A>T (p.Asp239Val) c.704A>T (p.Asp235Val) c.698A>T (p.Asp233Val) c.536A>T (p.Asp179Val) c.626-1898A>T (n.626-1898A>T) | |
| 3 | g.39394501T>A | CA352205254 | SLC25A38 | c.669T>A (p.Asp223Glu) c.666T>A (p.Asp222Glu) c.663T>A (p.Asp221Glu) c.*14T>A (n.*14T>A) c.717T>A (p.Asp239Glu) c.705T>A (p.Asp235Glu) c.699T>A (p.Asp233Glu) c.537T>A (p.Asp179Glu) c.626-1897T>A (n.626-1897T>A) | |
| 3 | g.39394501T>C | CA433164708 | SLC25A38 | c.669T>C (p.Asp223=) c.666T>C (p.Asp222=) c.663T>C (p.Asp221=) c.*14T>C (n.*14T>C) c.717T>C (p.Asp239=) c.705T>C (p.Asp235=) c.699T>C (p.Asp233=) c.537T>C (p.Asp179=) c.626-1897T>C (n.626-1897T>C) | |
| 3 | g.39394501T>G | CA352205258 | SLC25A38 | c.669T>G (p.Asp223Glu) c.666T>G (p.Asp222Glu) c.663T>G (p.Asp221Glu) c.*14T>G (n.*14T>G) c.717T>G (p.Asp239Glu) c.705T>G (p.Asp235Glu) c.699T>G (p.Asp233Glu) c.537T>G (p.Asp179Glu) c.626-1897T>G (n.626-1897T>G) |