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 |
|---|---|---|---|---|---|
| X | g.154953887C>A | CA2695237226 | F8 | c.1903+5G>T (n.1903+5G>T) c.*1779+5G>T (n.*1779+5G>T) c.1798+5G>T (n.1798+5G>T) | |
| X | g.154953887C>G | CA2695237225 | F8 | c.1903+5G>C (n.1903+5G>C) c.*1779+5G>C (n.*1779+5G>C) c.1798+5G>C (n.1798+5G>C) | |
| X | g.154953887C>T | CA2573055184 | F8 | c.1903+5G>A (n.1903+5G>A) c.*1779+5G>A (n.*1779+5G>A) c.1798+5G>A (n.1798+5G>A) | ClinVar dbSNP |
| X | g.154953889del | CA2695237228 | F8 | c.1903+3del (n.1903+3del) c.*1779+3del (n.*1779+3del) c.1798+3del (n.1798+3del) | |
| X | g.154953889C>A | CA2579744677 | F8 | c.1903+3G>T (n.1903+3G>T) c.*1779+3G>T (n.*1779+3G>T) c.1798+3G>T (n.1798+3G>T) | |
| X | g.154953890_154953891del | CA2695237227 | F8 | c.1903+2_1903+3del (n.1903+2_1903+3del) c.*1779+2_*1779+3del (n.*1779+2_*1779+3del) c.1798+2_1798+3del (n.1798+2_1798+3del) | |
| X | g.154953890A>C | CA414910203 | F8 | c.1903+2T>G (n.1903+2T>G) c.*1779+2T>G (n.*1779+2T>G) c.1798+2T>G (n.1798+2T>G) | |
| X | g.154953890A>G | CA414910206 | F8 | c.1903+2T>C (n.1903+2T>C) c.*1779+2T>C (n.*1779+2T>C) c.1798+2T>C (n.1798+2T>C) | COSMIC COSMIC |
| X | g.154953890A>T | CA414910209 | F8 | c.1903+2T>A (n.1903+2T>A) c.*1779+2T>A (n.*1779+2T>A) c.1798+2T>A (n.1798+2T>A) | |
| X | g.154953891C>A | CA414910212 | F8 | c.1903+1G>T (n.1903+1G>T) c.*1779+1G>T (n.*1779+1G>T) c.1798+1G>T (n.1798+1G>T) | |
| X | g.154953891C>G | CA414910214 | F8 | c.1903+1G>C (n.1903+1G>C) c.*1779+1G>C (n.*1779+1G>C) c.1798+1G>C (n.1798+1G>C) | |
| X | g.154953891C>T | CA414910215 | F8 | c.1903+1G>A (n.1903+1G>A) c.*1779+1G>A (n.*1779+1G>A) c.1798+1G>A (n.1798+1G>A) | |
| X | g.154953892T>A | CA414910219 | F8 | c.1903A>T (p.Ser635Cys) c.*1779A>T (n.*1779A>T) c.1798A>T (p.Ser600Cys) | |
| X | g.154953892T>C | CA414910221 | F8 | c.1903A>G (p.Ser635Gly) c.*1779A>G (n.*1779A>G) c.1798A>G (p.Ser600Gly) | |
| X | g.154953892T>G | CA414910223 | F8 | c.1903A>C (p.Ser635Arg) c.*1779A>C (n.*1779A>C) c.1798A>C (p.Ser600Arg) | |
| X | g.154953893G>A | CA519357710 | F8 | c.1902C>T (p.His634=) c.*1778C>T (n.*1778C>T) c.1797C>T (p.His599=) | dbSNP |
| X | g.154953893G>C | CA414910225 | F8 | c.1902C>G (p.His634Gln) c.*1778C>G (n.*1778C>G) c.1797C>G (p.His599Gln) | |
| X | g.154953893G= | CA2466844308 | F8 | c.1902C= (p.His634=) c.*1778C= (n.*1778C=) c.1797C= (p.His599=) | |
| X | g.154953893G>T | CA414910228 | F8 | c.1902C>A (p.His634Gln) c.*1778C>A (n.*1778C>A) c.1797C>A (p.His599Gln) | |
| X | g.154953894T>A | CA414910230 | F8 | c.1901A>T (p.His634Leu) c.*1777A>T (n.*1777A>T) c.1796A>T (p.His599Leu) | |
| X | g.154953894T>C | CA414910235 | F8 | c.1901A>G (p.His634Arg) c.*1777A>G (n.*1777A>G) c.1796A>G (p.His599Arg) | |
| X | g.154953894T>G | CA414910237 | F8 | c.1901A>C (p.His634Pro) c.*1777A>C (n.*1777A>C) c.1796A>C (p.His599Pro) | |
| X | g.154953895G>A | CA414910240 | F8 | c.1900C>T (p.His634Tyr) c.*1776C>T (n.*1776C>T) c.1795C>T (p.His599Tyr) | |
| X | g.154953895G>C | CA414910246 | F8 | c.1900C>G (p.His634Asp) c.*1776C>G (n.*1776C>G) c.1795C>G (p.His599Asp) | |
| X | g.154953895G>T | CA414910248 | F8 | c.1900C>A (p.His634Asn) c.*1776C>A (n.*1776C>A) c.1795C>A (p.His599Asn) | |
| X | g.154953896C>A | CA414910251 | F8 | c.1899G>T (p.Met633Ile) c.*1775G>T (n.*1775G>T) c.1794G>T (p.Met598Ile) | ClinVar dbSNP |
| X | g.154953896C= | CA2466844309 | F8 | c.1899G= (p.Met633=) c.*1775G= (n.*1775G=) c.1794G= (p.Met598=) | |
| X | g.154953896C>G | CA414910253 | F8 | c.1899G>C (p.Met633Ile) c.*1775G>C (n.*1775G>C) c.1794G>C (p.Met598Ile) | |
| X | g.154953896C>T | CA414910257 | F8 | c.1899G>A (p.Met633Ile) c.*1775G>A (n.*1775G>A) c.1794G>A (p.Met598Ile) | |
| X | g.154953896_154953899delinsCATG | CA2466844310 | F8 | c.1896_1899delinsCATG (p.Ile632=) c.*1772_*1775delinsCATG (n.*1772_*1775delinsCATG) c.1791_1794delinsCATG (p.Ile597=) | |
| X | g.154953897A= | CA2466844312 | F8 | c.1898T= (p.Met633=) c.*1774T= (n.*1774T=) c.1793T= (p.Met598=) | |
| X | g.154953897A>C | CA414910260 | F8 | c.1898T>G (p.Met633Arg) c.*1774T>G (n.*1774T>G) c.1793T>G (p.Met598Arg) | ClinVar dbSNP |
| X | g.154953897A>G | CA414910262 | F8 | c.1898T>C (p.Met633Thr) c.*1774T>C (n.*1774T>C) c.1793T>C (p.Met598Thr) | |
| X | g.154953897A>T | CA414910263 | F8 | c.1898T>A (p.Met633Lys) c.*1774T>A (n.*1774T>A) c.1793T>A (p.Met598Lys) | |
| X | g.154953900_154953902dup | CA2695237229 | F8 | c.1896_1898dup (p.Ile632_Met633insIle) c.*1772_*1774dup (n.*1772_*1774dup) c.1791_1793dup (p.Ile597_Met598insIle) | |
| X | g.154953900_154953902del | CA2466844311 | F8 | c.1896_1898del (p.Ile632del) c.*1772_*1774del (n.*1772_*1774del) c.1791_1793del (p.Ile597del) | dbSNP |
| X | g.154953898T>A | CA414910264 | F8 | c.1897A>T (p.Met633Leu) c.*1773A>T (n.*1773A>T) c.1792A>T (p.Met598Leu) | |
| X | g.154953898T>C | CA414910266 | F8 | c.1897A>G (p.Met633Val) c.*1773A>G (n.*1773A>G) c.1792A>G (p.Met598Val) | |
| X | g.154953898T>G | CA414910265 | F8 | c.1897A>C (p.Met633Leu) c.*1773A>C (n.*1773A>C) c.1792A>C (p.Met598Leu) | |
| X | g.154953899G>A | CA519357714 | F8 | c.1896C>T (p.Ile632=) c.*1772C>T (n.*1772C>T) c.1791C>T (p.Ile597=) | dbSNP COSMIC COSMIC |
| X | g.154953899G>C | CA414910268 | F8 | c.1896C>G (p.Ile632Met) c.*1772C>G (n.*1772C>G) c.1791C>G (p.Ile597Met) | |
| X | g.154953899G= | CA2466844313 | F8 | c.1896C= (p.Ile632=) c.*1772C= (n.*1772C=) c.1791C= (p.Ile597=) | |
| X | g.154953899G>T | CA519357712 | F8 | c.1896C>A (p.Ile632=) c.*1772C>A (n.*1772C>A) c.1791C>A (p.Ile597=) | |
| X | g.154953900A>C | CA414910272 | F8 | c.1895T>G (p.Ile632Ser) c.*1771T>G (n.*1771T>G) c.1790T>G (p.Ile597Ser) | |
| X | g.154953900A>G | CA414910274 | F8 | c.1895T>C (p.Ile632Thr) c.*1771T>C (n.*1771T>C) c.1790T>C (p.Ile597Thr) | |
| X | g.154953900A>T | CA414910276 | F8 | c.1895T>A (p.Ile632Asn) c.*1771T>A (n.*1771T>A) c.1790T>A (p.Ile597Asn) | |
| X | g.154953900_154953901delinsAT | CA2466844314 | F8 | c.1894_1895delinsAT (p.Ile632=) c.*1770_*1771delinsAT (n.*1770_*1771delinsAT) c.1789_1790delinsAT (p.Ile597=) | |
| X | g.154953901del | CA915952188 | F8 | c.1894del (p.Ile632SerfsTer28) c.*1770del (n.*1770del) c.1789del (p.Ile597SerfsTer28) | ClinVar dbSNP |
| X | g.154953901T>A | CA414910279 | F8 | c.1894A>T (p.Ile632Phe) c.*1770A>T (n.*1770A>T) c.1789A>T (p.Ile597Phe) | |
| X | g.154953901T>C | CA10568388 | F8 | c.1894A>G (p.Ile632Val) c.*1770A>G (n.*1770A>G) c.1789A>G (p.Ile597Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |