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.122284218A= | CA1397871935 | CASR | c.2033A= (p.Glu678=) c.2294A= (p.Glu765=) c.2264A= (p.Glu755=) c.1781A= (p.Glu594=) c.1676A= (p.Glu559=) | |
| 3 | g.122284218A>C | CA354159223 | CASR | c.2033A>C (p.Glu678Ala) c.2294A>C (p.Glu765Ala) c.2264A>C (p.Glu755Ala) c.1781A>C (p.Glu594Ala) c.1676A>C (p.Glu559Ala) | |
| 3 | g.122284218A>G | CA354159225 | CASR | c.2033A>G (p.Glu678Gly) c.2294A>G (p.Glu765Gly) c.2264A>G (p.Glu755Gly) c.1781A>G (p.Glu594Gly) c.1676A>G (p.Glu559Gly) | ClinVar dbSNP |
| 3 | g.122284218A>T | CA354159221 | CASR | c.2033A>T (p.Glu678Val) c.2294A>T (p.Glu765Val) c.2264A>T (p.Glu755Val) c.1781A>T (p.Glu594Val) c.1676A>T (p.Glu559Val) | |
| 3 | g.122284219G>A | CA435424788 | CASR | c.2034G>A (p.Glu678=) c.2295G>A (p.Glu765=) c.2265G>A (p.Glu755=) c.1782G>A (p.Glu594=) c.1677G>A (p.Glu559=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.122284219G>C | CA354159227 | CASR | c.2034G>C (p.Glu678Asp) c.2295G>C (p.Glu765Asp) c.2265G>C (p.Glu755Asp) c.1782G>C (p.Glu594Asp) c.1677G>C (p.Glu559Asp) | gnomAD v4 |
| 3 | g.122284219G= | CA1397871942 | CASR | c.2034G= (p.Glu678=) c.2295G= (p.Glu765=) c.2265G= (p.Glu755=) c.1782G= (p.Glu594=) c.1677G= (p.Glu559=) | |
| 3 | g.122284219G>T | CA2569807 | CASR | c.2034G>T (p.Glu678Asp) c.2295G>T (p.Glu765Asp) c.2265G>T (p.Glu755Asp) c.1782G>T (p.Glu594Asp) c.1677G>T (p.Glu559Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122284220C>A | CA354159230 | CASR | c.2035C>A (p.Leu679Met) c.2296C>A (p.Leu766Met) c.2266C>A (p.Leu756Met) c.1783C>A (p.Leu595Met) c.1678C>A (p.Leu560Met) | |
| 3 | g.122284220C>G | CA354159232 | CASR | c.2035C>G (p.Leu679Val) c.2296C>G (p.Leu766Val) c.2266C>G (p.Leu756Val) c.1783C>G (p.Leu595Val) c.1678C>G (p.Leu560Val) | |
| 3 | g.122284220C>T | CA435424791 | CASR | c.2035C>T (p.Leu679=) c.2296C>T (p.Leu766=) c.2266C>T (p.Leu756=) c.1783C>T (p.Leu595=) c.1678C>T (p.Leu560=) | gnomAD v4 |
| 3 | g.122284221T>A | CA354159235 | CASR | c.2036T>A (p.Leu679Gln) c.2297T>A (p.Leu766Gln) c.2267T>A (p.Leu756Gln) c.1784T>A (p.Leu595Gln) c.1679T>A (p.Leu560Gln) | |
| 3 | g.122284221T>C | CA354159236 | CASR | c.2036T>C (p.Leu679Pro) c.2297T>C (p.Leu766Pro) c.2267T>C (p.Leu756Pro) c.1784T>C (p.Leu595Pro) c.1679T>C (p.Leu560Pro) | |
| 3 | g.122284221T>G | CA354159237 | CASR | c.2036T>G (p.Leu679Arg) c.2297T>G (p.Leu766Arg) c.2267T>G (p.Leu756Arg) c.1784T>G (p.Leu595Arg) c.1679T>G (p.Leu560Arg) | |
| 3 | g.122284222G>A | CA435424795 | CASR | c.2037G>A (p.Leu679=) c.2298G>A (p.Leu766=) c.2268G>A (p.Leu756=) c.1785G>A (p.Leu595=) c.1680G>A (p.Leu560=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122284222G>C | CA435424796 | CASR | c.2037G>C (p.Leu679=) c.2298G>C (p.Leu766=) c.2268G>C (p.Leu756=) c.1785G>C (p.Leu595=) c.1680G>C (p.Leu560=) | |
| 3 | g.122284222G>T | CA435424797 | CASR | c.2037G>T (p.Leu679=) c.2298G>T (p.Leu766=) c.2268G>T (p.Leu756=) c.1785G>T (p.Leu595=) c.1680G>T (p.Leu560=) | ClinVar gnomAD v4 |
| 3 | g.122284223G>A | CA354159239 | CASR | c.2038G>A (p.Glu680Lys) c.2299G>A (p.Glu767Lys) c.2269G>A (p.Glu757Lys) c.1786G>A (p.Glu596Lys) c.1681G>A (p.Glu561Lys) | ClinVar dbSNP |
| 3 | g.122284223G>C | CA354159242 | CASR | c.2038G>C (p.Glu680Gln) c.2299G>C (p.Glu767Gln) c.2269G>C (p.Glu757Gln) c.1786G>C (p.Glu596Gln) c.1681G>C (p.Glu561Gln) | |
| 3 | g.122284223G= | CA1397871945 | CASR | c.2038G= (p.Glu680=) c.2299G= (p.Glu767=) c.2269G= (p.Glu757=) c.1786G= (p.Glu596=) c.1681G= (p.Glu561=) | |
| 3 | g.122284223G>T | CA354159244 | CASR | c.2038G>T (p.Glu680Ter) c.2299G>T (p.Glu767Ter) c.2269G>T (p.Glu757Ter) c.1786G>T (p.Glu596Ter) c.1681G>T (p.Glu561Ter) | |
| 3 | g.122284224A>C | CA354159246 | CASR | c.2039A>C (p.Glu680Ala) c.2300A>C (p.Glu767Ala) c.2270A>C (p.Glu757Ala) c.1787A>C (p.Glu596Ala) c.1682A>C (p.Glu561Ala) | |
| 3 | g.122284224A>G | CA354159248 | CASR | c.2039A>G (p.Glu680Gly) c.2300A>G (p.Glu767Gly) c.2270A>G (p.Glu757Gly) c.1787A>G (p.Glu596Gly) c.1682A>G (p.Glu561Gly) | |
| 3 | g.122284224A>T | CA354159250 | CASR | c.2039A>T (p.Glu680Val) c.2300A>T (p.Glu767Val) c.2270A>T (p.Glu757Val) c.1787A>T (p.Glu596Val) c.1682A>T (p.Glu561Val) | |
| 3 | g.122284225G>A | CA435424799 | CASR | c.2040G>A (p.Glu680=) c.2301G>A (p.Glu767=) c.2271G>A (p.Glu757=) c.1788G>A (p.Glu596=) c.1683G>A (p.Glu561=) | |
| 3 | g.122284225G>C | CA354159252 | CASR | c.2040G>C (p.Glu680Asp) c.2301G>C (p.Glu767Asp) c.2271G>C (p.Glu757Asp) c.1788G>C (p.Glu596Asp) c.1683G>C (p.Glu561Asp) | |
| 3 | g.122284225G>T | CA354159253 | CASR | c.2040G>T (p.Glu680Asp) c.2301G>T (p.Glu767Asp) c.2271G>T (p.Glu757Asp) c.1788G>T (p.Glu596Asp) c.1683G>T (p.Glu561Asp) | gnomAD v4 |
| 3 | g.122284226G>A | CA354159254 | CASR | c.2041G>A (p.Asp681Asn) c.2302G>A (p.Asp768Asn) c.2272G>A (p.Asp758Asn) c.1789G>A (p.Asp597Asn) c.1684G>A (p.Asp562Asn) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122284226G>C | CA354159256 | CASR | c.2041G>C (p.Asp681His) c.2302G>C (p.Asp768His) c.2272G>C (p.Asp758His) c.1789G>C (p.Asp597His) c.1684G>C (p.Asp562His) | |
| 3 | g.122284226G= | CA1397871947 | CASR | c.2041G= (p.Asp681=) c.2302G= (p.Asp768=) c.2272G= (p.Asp758=) c.1789G= (p.Asp597=) c.1684G= (p.Asp562=) | |
| 3 | g.122284226G>T | CA354159257 | CASR | c.2041G>T (p.Asp681Tyr) c.2302G>T (p.Asp768Tyr) c.2272G>T (p.Asp758Tyr) c.1789G>T (p.Asp597Tyr) c.1684G>T (p.Asp562Tyr) | |
| 3 | g.122284227A>C | CA354159259 | CASR | c.2042A>C (p.Asp681Ala) c.2303A>C (p.Asp768Ala) c.2273A>C (p.Asp758Ala) c.1790A>C (p.Asp597Ala) c.1685A>C (p.Asp562Ala) | |
| 3 | g.122284227A>G | CA354159261 | CASR | c.2042A>G (p.Asp681Gly) c.2303A>G (p.Asp768Gly) c.2273A>G (p.Asp758Gly) c.1790A>G (p.Asp597Gly) c.1685A>G (p.Asp562Gly) | |
| 3 | g.122284227A>T | CA354159263 | CASR | c.2042A>T (p.Asp681Val) c.2303A>T (p.Asp768Val) c.2273A>T (p.Asp758Val) c.1790A>T (p.Asp597Val) c.1685A>T (p.Asp562Val) | |
| 3 | g.122284228T>A | CA354159265 | CASR | c.2043T>A (p.Asp681Glu) c.2304T>A (p.Asp768Glu) c.2274T>A (p.Asp758Glu) c.1791T>A (p.Asp597Glu) c.1686T>A (p.Asp562Glu) | |
| 3 | g.122284228T>C | CA435424803 | CASR | c.2043T>C (p.Asp681=) c.2304T>C (p.Asp768=) c.2274T>C (p.Asp758=) c.1791T>C (p.Asp597=) c.1686T>C (p.Asp562=) | gnomAD v4 |
| 3 | g.122284228T>G | CA354159267 | CASR | c.2043T>G (p.Asp681Glu) c.2304T>G (p.Asp768Glu) c.2274T>G (p.Asp758Glu) c.1791T>G (p.Asp597Glu) c.1686T>G (p.Asp562Glu) | gnomAD v3 gnomAD v4 |
| 3 | g.122284229G>A | CA354159269 | CASR | c.2044G>A (p.Glu682Lys) c.2305G>A (p.Glu769Lys) c.2275G>A (p.Glu759Lys) c.1792G>A (p.Glu598Lys) c.1687G>A (p.Glu563Lys) | ClinVar |
| 3 | g.122284229G>C | CA354159272 | CASR | c.2044G>C (p.Glu682Gln) c.2305G>C (p.Glu769Gln) c.2275G>C (p.Glu759Gln) c.1792G>C (p.Glu598Gln) c.1687G>C (p.Glu563Gln) | |
| 3 | g.122284229G>T | CA354159274 | CASR | c.2044G>T (p.Glu682Ter) c.2305G>T (p.Glu769Ter) c.2275G>T (p.Glu759Ter) c.1792G>T (p.Glu598Ter) c.1687G>T (p.Glu563Ter) | |
| 3 | g.122284230A>C | CA354159278 | CASR | c.2045A>C (p.Glu682Ala) c.2306A>C (p.Glu769Ala) c.2276A>C (p.Glu759Ala) c.1793A>C (p.Glu598Ala) c.1688A>C (p.Glu563Ala) | |
| 3 | g.122284230A>G | CA354159279 | CASR | c.2045A>G (p.Glu682Gly) c.2306A>G (p.Glu769Gly) c.2276A>G (p.Glu759Gly) c.1793A>G (p.Glu598Gly) c.1688A>G (p.Glu563Gly) | |
| 3 | g.122284230A>T | CA354159276 | CASR | c.2045A>T (p.Glu682Val) c.2306A>T (p.Glu769Val) c.2276A>T (p.Glu759Val) c.1793A>T (p.Glu598Val) c.1688A>T (p.Glu563Val) | |
| 3 | g.122284231G>A | CA435424805 | CASR | c.2046G>A (p.Glu682=) c.2307G>A (p.Glu769=) c.2277G>A (p.Glu759=) c.1794G>A (p.Glu598=) c.1689G>A (p.Glu563=) | gnomAD v4 |
| 3 | g.122284231G>C | CA354159283 | CASR | c.2046G>C (p.Glu682Asp) c.2307G>C (p.Glu769Asp) c.2277G>C (p.Glu759Asp) c.1794G>C (p.Glu598Asp) c.1689G>C (p.Glu563Asp) | |
| 3 | g.122284231G>T | CA354159282 | CASR | c.2046G>T (p.Glu682Asp) c.2307G>T (p.Glu769Asp) c.2277G>T (p.Glu759Asp) c.1794G>T (p.Glu598Asp) c.1689G>T (p.Glu563Asp) | |
| 3 | g.122284232A= | CA1397871952 | CASR | c.2047A= (p.Ile683=) c.2308A= (p.Ile770=) c.2278A= (p.Ile760=) c.1795A= (p.Ile599=) c.1690A= (p.Ile564=) | |
| 3 | g.122284232A>C | CA354159286 | CASR | c.2047A>C (p.Ile683Leu) c.2308A>C (p.Ile770Leu) c.2278A>C (p.Ile760Leu) c.1795A>C (p.Ile599Leu) c.1690A>C (p.Ile564Leu) | |
| 3 | g.122284232A>G | CA354159288 | CASR | c.2047A>G (p.Ile683Val) c.2308A>G (p.Ile770Val) c.2278A>G (p.Ile760Val) c.1795A>G (p.Ile599Val) c.1690A>G (p.Ile564Val) | ClinVar dbSNP |
| 3 | g.122284232A>T | CA354159289 | CASR | c.2047A>T (p.Ile683Phe) c.2308A>T (p.Ile770Phe) c.2278A>T (p.Ile760Phe) c.1795A>T (p.Ile599Phe) c.1690A>T (p.Ile564Phe) | ClinVar dbSNP gnomAD v2 gnomAD v4 |