UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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 |
| 3 | g.122284235_122284237del | CA2586972868 | CASR | c.2050_2052del (p.Ile684del) c.2311_2313del (p.Ile771del) c.2281_2283del (p.Ile761del) c.1798_1800del (p.Ile600del) c.1693_1695del (p.Ile565del) | |
| 3 | g.122284233T>A | CA354159291 | CASR | c.2048T>A (p.Ile683Asn) c.2309T>A (p.Ile770Asn) c.2279T>A (p.Ile760Asn) c.1796T>A (p.Ile599Asn) c.1691T>A (p.Ile564Asn) | |
| 3 | g.122284233T>C | CA354159293 | CASR | c.2048T>C (p.Ile683Thr) c.2309T>C (p.Ile770Thr) c.2279T>C (p.Ile760Thr) c.1796T>C (p.Ile599Thr) c.1691T>C (p.Ile564Thr) | |
| 3 | g.122284233T>G | CA354159295 | CASR | c.2048T>G (p.Ile683Ser) c.2309T>G (p.Ile770Ser) c.2279T>G (p.Ile760Ser) c.1796T>G (p.Ile599Ser) c.1691T>G (p.Ile564Ser) | gnomAD v4 |
| 3 | g.122284234C>A | CA435424809 | CASR | c.2049C>A (p.Ile683=) c.2310C>A (p.Ile770=) c.2280C>A (p.Ile760=) c.1797C>A (p.Ile599=) c.1692C>A (p.Ile564=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122284234C= | CA1397871961 | CASR | c.2049C= (p.Ile683=) c.2310C= (p.Ile770=) c.2280C= (p.Ile760=) c.1797C= (p.Ile599=) c.1692C= (p.Ile564=) | |
| 3 | g.122284234C>G | CA354159297 | CASR | c.2049C>G (p.Ile683Met) c.2310C>G (p.Ile770Met) c.2280C>G (p.Ile760Met) c.1797C>G (p.Ile599Met) c.1692C>G (p.Ile564Met) | ClinVar dbSNP |
| 3 | g.122284234C>T | CA435424810 | CASR | c.2049C>T (p.Ile683=) c.2310C>T (p.Ile770=) c.2280C>T (p.Ile760=) c.1797C>T (p.Ile599=) c.1692C>T (p.Ile564=) | dbSNP COSMIC |
| 3 | g.122284235A>C | CA354159299 | CASR | c.2050A>C (p.Ile684Leu) c.2311A>C (p.Ile771Leu) c.2281A>C (p.Ile761Leu) c.1798A>C (p.Ile600Leu) c.1693A>C (p.Ile565Leu) | ClinVar |
| 3 | g.122284235A>G | CA354159300 | CASR | c.2050A>G (p.Ile684Val) c.2311A>G (p.Ile771Val) c.2281A>G (p.Ile761Val) c.1798A>G (p.Ile600Val) c.1693A>G (p.Ile565Val) | |
| 3 | g.122284235A>T | CA354159301 | CASR | c.2050A>T (p.Ile684Phe) c.2311A>T (p.Ile771Phe) c.2281A>T (p.Ile761Phe) c.1798A>T (p.Ile600Phe) c.1693A>T (p.Ile565Phe) | |
| 3 | g.122284236T>A | CA354159303 | CASR | c.2051T>A (p.Ile684Asn) c.2312T>A (p.Ile771Asn) c.2282T>A (p.Ile761Asn) c.1799T>A (p.Ile600Asn) c.1694T>A (p.Ile565Asn) | ClinVar |
| 3 | g.122284236T>C | CA354159304 | CASR | c.2051T>C (p.Ile684Thr) c.2312T>C (p.Ile771Thr) c.2282T>C (p.Ile761Thr) c.1799T>C (p.Ile600Thr) c.1694T>C (p.Ile565Thr) | ClinVar |
| 3 | g.122284236T>G | CA354159306 | CASR | c.2051T>G (p.Ile684Ser) c.2312T>G (p.Ile771Ser) c.2282T>G (p.Ile761Ser) c.1799T>G (p.Ile600Ser) c.1694T>G (p.Ile565Ser) | COSMIC |
| 3 | g.122284237C>A | CA435424816 | CASR | c.2052C>A (p.Ile684=) c.2313C>A (p.Ile771=) c.2283C>A (p.Ile761=) c.1800C>A (p.Ile600=) c.1695C>A (p.Ile565=) | ClinVar |
| 3 | g.122284237C>G | CA354159309 | CASR | c.2052C>G (p.Ile684Met) c.2313C>G (p.Ile771Met) c.2283C>G (p.Ile761Met) c.1800C>G (p.Ile600Met) c.1695C>G (p.Ile565Met) | |
| 3 | g.122284237C>T | CA435424815 | CASR | c.2052C>T (p.Ile684=) c.2313C>T (p.Ile771=) c.2283C>T (p.Ile761=) c.1800C>T (p.Ile600=) c.1695C>T (p.Ile565=) | ClinVar |
| 3 | g.122284238T>A | CA354159310 | CASR | c.2053T>A (p.Phe685Ile) c.2314T>A (p.Phe772Ile) c.2284T>A (p.Phe762Ile) c.1801T>A (p.Phe601Ile) c.1696T>A (p.Phe566Ile) | |
| 3 | g.122284238T>C | CA354159312 | CASR | c.2053T>C (p.Phe685Leu) c.2314T>C (p.Phe772Leu) c.2284T>C (p.Phe762Leu) c.1801T>C (p.Phe601Leu) c.1696T>C (p.Phe566Leu) | |
| 3 | g.122284238T>G | CA354159314 | CASR | c.2053T>G (p.Phe685Val) c.2314T>G (p.Phe772Val) c.2284T>G (p.Phe762Val) c.1801T>G (p.Phe601Val) c.1696T>G (p.Phe566Val) | |
| 3 | g.122284239T>A | CA354159317 | CASR | c.2054T>A (p.Phe685Tyr) c.2315T>A (p.Phe772Tyr) c.2285T>A (p.Phe762Tyr) c.1802T>A (p.Phe601Tyr) c.1697T>A (p.Phe566Tyr) | |
| 3 | g.122284239T>C | CA354159319 | CASR | c.2054T>C (p.Phe685Ser) c.2315T>C (p.Phe772Ser) c.2285T>C (p.Phe762Ser) c.1802T>C (p.Phe601Ser) c.1697T>C (p.Phe566Ser) | |
| 3 | g.122284239T>G | CA354159320 | CASR | c.2054T>G (p.Phe685Cys) c.2315T>G (p.Phe772Cys) c.2285T>G (p.Phe762Cys) c.1802T>G (p.Phe601Cys) c.1697T>G (p.Phe566Cys) | |
| 3 | g.122284240C>A | CA354159323 | CASR | c.2055C>A (p.Phe685Leu) c.2316C>A (p.Phe772Leu) c.2286C>A (p.Phe762Leu) c.1803C>A (p.Phe601Leu) c.1698C>A (p.Phe566Leu) | |
| 3 | g.122284240C>G | CA354159324 | CASR | c.2055C>G (p.Phe685Leu) c.2316C>G (p.Phe772Leu) c.2286C>G (p.Phe762Leu) c.1803C>G (p.Phe601Leu) c.1698C>G (p.Phe566Leu) | |
| 3 | g.122284240C>T | CA435424822 | CASR | c.2055C>T (p.Phe685=) c.2316C>T (p.Phe772=) c.2286C>T (p.Phe762=) c.1803C>T (p.Phe601=) c.1698C>T (p.Phe566=) | |
| 3 | g.122284241A>C | CA354159326 | CASR | c.2056A>C (p.Ile686Leu) c.2317A>C (p.Ile773Leu) c.2287A>C (p.Ile763Leu) c.1804A>C (p.Ile602Leu) c.1699A>C (p.Ile567Leu) | ClinVar gnomAD v4 |
| 3 | g.122284241A>G | CA354159327 | CASR | c.2056A>G (p.Ile686Val) c.2317A>G (p.Ile773Val) c.2287A>G (p.Ile763Val) c.1804A>G (p.Ile602Val) c.1699A>G (p.Ile567Val) | gnomAD v4 |
| 3 | g.122284241A>T | CA354159329 | CASR | c.2056A>T (p.Ile686Phe) c.2317A>T (p.Ile773Phe) c.2287A>T (p.Ile763Phe) c.1804A>T (p.Ile602Phe) c.1699A>T (p.Ile567Phe) | COSMIC |
| 3 | g.122284242T>A | CA354159331 | CASR | c.2057T>A (p.Ile686Asn) c.2318T>A (p.Ile773Asn) c.2288T>A (p.Ile763Asn) c.1805T>A (p.Ile602Asn) c.1700T>A (p.Ile567Asn) | |
| 3 | g.122284242T>C | CA354159333 | CASR | c.2057T>C (p.Ile686Thr) c.2318T>C (p.Ile773Thr) c.2288T>C (p.Ile763Thr) c.1805T>C (p.Ile602Thr) c.1700T>C (p.Ile567Thr) | |
| 3 | g.122284242T>G | CA354159336 | CASR | c.2057T>G (p.Ile686Ser) c.2318T>G (p.Ile773Ser) c.2288T>G (p.Ile763Ser) c.1805T>G (p.Ile602Ser) c.1700T>G (p.Ile567Ser) | ClinVar |
| 3 | g.122284243C>A | CA435424831 | CASR | c.2058C>A (p.Ile686=) c.2319C>A (p.Ile773=) c.2289C>A (p.Ile763=) c.1806C>A (p.Ile602=) c.1701C>A (p.Ile567=) | |
| 3 | g.122284243C>G | CA354159338 | CASR | c.2058C>G (p.Ile686Met) c.2319C>G (p.Ile773Met) c.2289C>G (p.Ile763Met) c.1806C>G (p.Ile602Met) c.1701C>G (p.Ile567Met) | |
| 3 | g.122284243C>T | CA435424833 | CASR | c.2058C>T (p.Ile686=) c.2319C>T (p.Ile773=) c.2289C>T (p.Ile763=) c.1806C>T (p.Ile602=) c.1701C>T (p.Ile567=) | |
| 3 | g.122284244A= | CA1397871965 | CASR | c.2059A= (p.Thr687=) c.2320A= (p.Thr774=) c.2290A= (p.Thr764=) c.1807A= (p.Thr603=) c.1702A= (p.Thr568=) | |
| 3 | g.122284244A>C | CA354159342 | CASR | c.2059A>C (p.Thr687Pro) c.2320A>C (p.Thr774Pro) c.2290A>C (p.Thr764Pro) c.1807A>C (p.Thr603Pro) c.1702A>C (p.Thr568Pro) | ClinVar dbSNP |
| 3 | g.122284244A>G | CA354159341 | CASR | c.2059A>G (p.Thr687Ala) c.2320A>G (p.Thr774Ala) c.2290A>G (p.Thr764Ala) c.1807A>G (p.Thr603Ala) c.1702A>G (p.Thr568Ala) | |
| 3 | g.122284244A>T | CA354159343 | CASR | c.2059A>T (p.Thr687Ser) c.2320A>T (p.Thr774Ser) c.2290A>T (p.Thr764Ser) c.1807A>T (p.Thr603Ser) c.1702A>T (p.Thr568Ser) | |
| 3 | g.122284245C>A | CA354159346 | CASR | c.2060C>A (p.Thr687Lys) c.2321C>A (p.Thr774Lys) c.2291C>A (p.Thr764Lys) c.1808C>A (p.Thr603Lys) c.1703C>A (p.Thr568Lys) | |
| 3 | g.122284245C= | CA1397871968 | CASR | c.2060C= (p.Thr687=) c.2321C= (p.Thr774=) c.2291C= (p.Thr764=) c.1808C= (p.Thr603=) c.1703C= (p.Thr568=) | |
| 3 | g.122284245C>G | CA354159348 | CASR | c.2060C>G (p.Thr687Arg) c.2321C>G (p.Thr774Arg) c.2291C>G (p.Thr764Arg) c.1808C>G (p.Thr603Arg) c.1703C>G (p.Thr568Arg) | |
| 3 | g.122284245C>T | CA2569808 | CASR | c.2060C>T (p.Thr687Met) c.2321C>T (p.Thr774Met) c.2291C>T (p.Thr764Met) c.1808C>T (p.Thr603Met) c.1703C>T (p.Thr568Met) | ClinVar dbSNP ExAC gnomAD v2 |
| 3 | g.122284246G>A | CA82748899 | CASR | c.2061G>A (p.Thr687=) c.2322G>A (p.Thr774=) c.2292G>A (p.Thr764=) c.1809G>A (p.Thr603=) c.1704G>A (p.Thr568=) | ClinVar dbSNP |
| 3 | g.122284246G>C | CA435424841 | CASR | c.2061G>C (p.Thr687=) c.2322G>C (p.Thr774=) c.2292G>C (p.Thr764=) c.1809G>C (p.Thr603=) c.1704G>C (p.Thr568=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122284246G= | CA1397871973 | CASR | c.2061G= (p.Thr687=) c.2322G= (p.Thr774=) c.2292G= (p.Thr764=) c.1809G= (p.Thr603=) c.1704G= (p.Thr568=) | |
| 3 | g.122284246G>T | CA435424842 | CASR | c.2061G>T (p.Thr687=) c.2322G>T (p.Thr774=) c.2292G>T (p.Thr764=) c.1809G>T (p.Thr603=) c.1704G>T (p.Thr568=) | ClinVar |
| 3 | g.122284247T>A | CA354159353 | CASR | c.2062T>A (p.Cys688Ser) c.2323T>A (p.Cys775Ser) c.2293T>A (p.Cys765Ser) c.1810T>A (p.Cys604Ser) c.1705T>A (p.Cys569Ser) | |
| 3 | g.122284247T>C | CA354159356 | CASR | c.2062T>C (p.Cys688Arg) c.2323T>C (p.Cys775Arg) c.2293T>C (p.Cys765Arg) c.1810T>C (p.Cys604Arg) c.1705T>C (p.Cys569Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.122284247T>G | CA354159358 | CASR | c.2062T>G (p.Cys688Gly) c.2323T>G (p.Cys775Gly) c.2293T>G (p.Cys765Gly) c.1810T>G (p.Cys604Gly) c.1705T>G (p.Cys569Gly) | |
| 3 | g.122284247T= | CA1397871981 | CASR | c.2062T= (p.Cys688=) c.2323T= (p.Cys775=) c.2293T= (p.Cys765=) c.1810T= (p.Cys604=) c.1705T= (p.Cys569=) | |
| 3 | g.122284248G>A | CA354159360 | CASR | c.2063G>A (p.Cys688Tyr) c.2324G>A (p.Cys775Tyr) c.2294G>A (p.Cys765Tyr) c.1811G>A (p.Cys604Tyr) c.1706G>A (p.Cys569Tyr) | |
| 3 | g.122284248G>C | CA354159363 | CASR | c.2063G>C (p.Cys688Ser) c.2324G>C (p.Cys775Ser) c.2294G>C (p.Cys765Ser) c.1811G>C (p.Cys604Ser) c.1706G>C (p.Cys569Ser) | |
| 3 | g.122284248G>T | CA354159365 | CASR | c.2063G>T (p.Cys688Phe) c.2324G>T (p.Cys775Phe) c.2294G>T (p.Cys765Phe) c.1811G>T (p.Cys604Phe) c.1706G>T (p.Cys569Phe) | |
| 3 | g.122284249C>A | CA354159367 | CASR | c.2064C>A (p.Cys688Ter) c.2325C>A (p.Cys775Ter) c.2295C>A (p.Cys765Ter) c.1812C>A (p.Cys604Ter) c.1707C>A (p.Cys569Ter) | |
| 3 | g.122284249C= | CA1397871988 | CASR | c.2064C= (p.Cys688=) c.2325C= (p.Cys775=) c.2295C= (p.Cys765=) c.1812C= (p.Cys604=) c.1707C= (p.Cys569=) | |
| 3 | g.122284249C>G | CA354159369 | CASR | c.2064C>G (p.Cys688Trp) c.2325C>G (p.Cys775Trp) c.2295C>G (p.Cys765Trp) c.1812C>G (p.Cys604Trp) c.1707C>G (p.Cys569Trp) | ClinVar dbSNP |
| 3 | g.122284249C>T | CA435424843 | CASR | c.2064C>T (p.Cys688=) c.2325C>T (p.Cys775=) c.2295C>T (p.Cys765=) c.1812C>T (p.Cys604=) c.1707C>T (p.Cys569=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.122284250C>A | CA354159378 | CASR | c.2065C>A (p.His689Asn) c.2326C>A (p.His776Asn) c.2296C>A (p.His766Asn) c.1813C>A (p.His605Asn) c.1708C>A (p.His570Asn) | ClinVar dbSNP |
| 3 | g.122284250C= | CA1397871992 | CASR | c.2065C= (p.His689=) c.2326C= (p.His776=) c.2296C= (p.His766=) c.1813C= (p.His605=) c.1708C= (p.His570=) | |
| 3 | g.122284250C>G | CA354159377 | CASR | c.2065C>G (p.His689Asp) c.2326C>G (p.His776Asp) c.2296C>G (p.His766Asp) c.1813C>G (p.His605Asp) c.1708C>G (p.His570Asp) | |
| 3 | g.122284250C>T | CA2569809 | CASR | c.2065C>T (p.His689Tyr) c.2326C>T (p.His776Tyr) c.2296C>T (p.His766Tyr) c.1813C>T (p.His605Tyr) c.1708C>T (p.His570Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.122284251_122284252dup | CA2499216413 | CASR | c.2066_2067dup (p.Glu690ThrfsTer11) c.2327_2328dup (p.Glu777ThrfsTer11) c.2297_2298dup (p.Glu767ThrfsTer11) c.1814_1815dup (p.Glu606ThrfsTer11) c.1709_1710dup (p.Glu571ThrfsTer11) | ClinVar dbSNP |
| 3 | g.122284251A>C | CA354159381 | CASR | c.2066A>C (p.His689Pro) c.2327A>C (p.His776Pro) c.2297A>C (p.His766Pro) c.1814A>C (p.His605Pro) c.1709A>C (p.His570Pro) | |
| 3 | g.122284251A>G | CA354159382 | CASR | c.2066A>G (p.His689Arg) c.2327A>G (p.His776Arg) c.2297A>G (p.His766Arg) c.1814A>G (p.His605Arg) c.1709A>G (p.His570Arg) | |
| 3 | g.122284251A>T | CA354159385 | CASR | c.2066A>T (p.His689Leu) c.2327A>T (p.His776Leu) c.2297A>T (p.His766Leu) c.1814A>T (p.His605Leu) c.1709A>T (p.His570Leu) | |
| 3 | g.122284252C>A | CA354159390 | CASR | c.2067C>A (p.His689Gln) c.2328C>A (p.His776Gln) c.2298C>A (p.His766Gln) c.1815C>A (p.His605Gln) c.1710C>A (p.His570Gln) | |
| 3 | g.122284252C= | CA1397871996 | CASR | c.2067C= (p.His689=) c.2328C= (p.His776=) c.2298C= (p.His766=) c.1815C= (p.His605=) c.1710C= (p.His570=) | |
| 3 | g.122284252C>G | CA82748902 | CASR | c.2067C>G (p.His689Gln) c.2328C>G (p.His776Gln) c.2298C>G (p.His766Gln) c.1815C>G (p.His605Gln) c.1710C>G (p.His570Gln) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122284252C>T | CA2569810 | CASR | c.2067C>T (p.His689=) c.2328C>T (p.His776=) c.2298C>T (p.His766=) c.1815C>T (p.His605=) c.1710C>T (p.His570=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122284253G>A | CA354159395 | CASR | c.2068G>A (p.Glu690Lys) c.2329G>A (p.Glu777Lys) c.2299G>A (p.Glu767Lys) c.1816G>A (p.Glu606Lys) c.1711G>A (p.Glu571Lys) | ClinVar dbSNP COSMIC |
| 3 | g.122284253G>C | CA354159397 | CASR | c.2068G>C (p.Glu690Gln) c.2329G>C (p.Glu777Gln) c.2299G>C (p.Glu767Gln) c.1816G>C (p.Glu606Gln) c.1711G>C (p.Glu571Gln) | ClinVar |
| 3 | g.122284253G= | CA1397872004 | CASR | c.2068G= (p.Glu690=) c.2329G= (p.Glu777=) c.2299G= (p.Glu767=) c.1816G= (p.Glu606=) c.1711G= (p.Glu571=) | |
| 3 | g.122284253G>T | CA354159399 | CASR | c.2068G>T (p.Glu690Ter) c.2329G>T (p.Glu777Ter) c.2299G>T (p.Glu767Ter) c.1816G>T (p.Glu606Ter) c.1711G>T (p.Glu571Ter) | |
| 3 | g.122284254A>C | CA354159401 | CASR | c.2069A>C (p.Glu690Ala) c.2330A>C (p.Glu777Ala) c.2300A>C (p.Glu767Ala) c.1817A>C (p.Glu606Ala) c.1712A>C (p.Glu571Ala) | ClinVar dbSNP |
| 3 | g.122284254A>G | CA354159403 | CASR | c.2069A>G (p.Glu690Gly) c.2330A>G (p.Glu777Gly) c.2300A>G (p.Glu767Gly) c.1817A>G (p.Glu606Gly) c.1712A>G (p.Glu571Gly) | |
| 3 | g.122284254A>T | CA354159404 | CASR | c.2069A>T (p.Glu690Val) c.2330A>T (p.Glu777Val) c.2300A>T (p.Glu767Val) c.1817A>T (p.Glu606Val) c.1712A>T (p.Glu571Val) | |
| 3 | g.122284255G>A | CA2569811 | CASR | c.2070G>A (p.Glu690=) c.2331G>A (p.Glu777=) c.2301G>A (p.Glu767=) c.1818G>A (p.Glu606=) c.1713G>A (p.Glu571=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122284255G>C | CA354159410 | CASR | c.2070G>C (p.Glu690Asp) c.2331G>C (p.Glu777Asp) c.2301G>C (p.Glu767Asp) c.1818G>C (p.Glu606Asp) c.1713G>C (p.Glu571Asp) | |
| 3 | g.122284255G= | CA1397872011 | CASR | c.2070G= (p.Glu690=) c.2331G= (p.Glu777=) c.2301G= (p.Glu767=) c.1818G= (p.Glu606=) c.1713G= (p.Glu571=) | |
| 3 | g.122284255G>T | CA354159407 | CASR | c.2070G>T (p.Glu690Asp) c.2331G>T (p.Glu777Asp) c.2301G>T (p.Glu767Asp) c.1818G>T (p.Glu606Asp) c.1713G>T (p.Glu571Asp) | |
| 3 | g.122284256G>A | CA354159413 | CASR | c.2071G>A (p.Gly691Ser) c.2332G>A (p.Gly778Ser) c.2302G>A (p.Gly768Ser) c.1819G>A (p.Gly607Ser) c.1714G>A (p.Gly572Ser) | |
| 3 | g.122284256G>C | CA354159417 | CASR | c.2071G>C (p.Gly691Arg) c.2332G>C (p.Gly778Arg) c.2302G>C (p.Gly768Arg) c.1819G>C (p.Gly607Arg) c.1714G>C (p.Gly572Arg) | |
| 3 | g.122284256G>T | CA354159415 | CASR | c.2071G>T (p.Gly691Cys) c.2332G>T (p.Gly778Cys) c.2302G>T (p.Gly768Cys) c.1819G>T (p.Gly607Cys) c.1714G>T (p.Gly572Cys) | gnomAD v4 |
| 3 | g.122284257G>A | CA354159419 | CASR | c.2072G>A (p.Gly691Asp) c.2333G>A (p.Gly778Asp) c.2303G>A (p.Gly768Asp) c.1820G>A (p.Gly607Asp) c.1715G>A (p.Gly572Asp) | |
| 3 | g.122284257G>C | CA354159423 | CASR | c.2072G>C (p.Gly691Ala) c.2333G>C (p.Gly778Ala) c.2303G>C (p.Gly768Ala) c.1820G>C (p.Gly607Ala) c.1715G>C (p.Gly572Ala) | |
| 3 | g.122284257G= | CA1397872018 | CASR | c.2072G= (p.Gly691=) c.2333G= (p.Gly778=) c.2303G= (p.Gly768=) c.1820G= (p.Gly607=) c.1715G= (p.Gly572=) | |
| 3 | g.122284257G>T | CA2569812 | CASR | c.2072G>T (p.Gly691Val) c.2333G>T (p.Gly778Val) c.2303G>T (p.Gly768Val) c.1820G>T (p.Gly607Val) c.1715G>T (p.Gly572Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122284258C>A | CA435424860 | CASR | c.2073C>A (p.Gly691=) c.2334C>A (p.Gly778=) c.2304C>A (p.Gly768=) c.1821C>A (p.Gly607=) c.1716C>A (p.Gly572=) | |
| 3 | g.122284258C= | CA1397872023 | CASR | c.2073C= (p.Gly691=) c.2334C= (p.Gly778=) c.2304C= (p.Gly768=) c.1821C= (p.Gly607=) c.1716C= (p.Gly572=) | |
| 3 | g.122284258C>G | CA435424862 | CASR | c.2073C>G (p.Gly691=) c.2334C>G (p.Gly778=) c.2304C>G (p.Gly768=) c.1821C>G (p.Gly607=) c.1716C>G (p.Gly572=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122284258C>T | CA435424861 | CASR | c.2073C>T (p.Gly691=) c.2334C>T (p.Gly778=) c.2304C>T (p.Gly768=) c.1821C>T (p.Gly607=) c.1716C>T (p.Gly572=) | gnomAD v3 gnomAD v4 |
| 3 | g.122284259T>A | CA354159426 | CASR | c.2074T>A (p.Ser692Thr) c.2335T>A (p.Ser779Thr) c.2305T>A (p.Ser769Thr) c.1822T>A (p.Ser608Thr) c.1717T>A (p.Ser573Thr) | |
| 3 | g.122284259T>C | CA354159431 | CASR | c.2074T>C (p.Ser692Pro) c.2335T>C (p.Ser779Pro) c.2305T>C (p.Ser769Pro) c.1822T>C (p.Ser608Pro) c.1717T>C (p.Ser573Pro) | |
| 3 | g.122284259T>G | CA354159433 | CASR | c.2074T>G (p.Ser692Ala) c.2335T>G (p.Ser779Ala) c.2305T>G (p.Ser769Ala) c.1822T>G (p.Ser608Ala) c.1717T>G (p.Ser573Ala) | |
| 3 | g.122284260C>A | CA354159435 | CASR | c.2075C>A (p.Ser692Tyr) c.2336C>A (p.Ser779Tyr) c.2306C>A (p.Ser769Tyr) c.1823C>A (p.Ser608Tyr) c.1718C>A (p.Ser573Tyr) | |
| 3 | g.122284260C>G | CA354159436 | CASR | c.2075C>G (p.Ser692Cys) c.2336C>G (p.Ser779Cys) c.2306C>G (p.Ser769Cys) c.1823C>G (p.Ser608Cys) c.1718C>G (p.Ser573Cys) | ClinVar |
| 3 | g.122284260C>T | CA354159439 | CASR | c.2075C>T (p.Ser692Phe) c.2336C>T (p.Ser779Phe) c.2306C>T (p.Ser769Phe) c.1823C>T (p.Ser608Phe) c.1718C>T (p.Ser573Phe) | |
| 3 | g.122284261C>A | CA435424866 | CASR | c.2076C>A (p.Ser692=) c.2337C>A (p.Ser779=) c.2307C>A (p.Ser769=) c.1824C>A (p.Ser608=) c.1719C>A (p.Ser573=) | |
| 3 | g.122284261C= | CA1397872028 | CASR | c.2076C= (p.Ser692=) c.2337C= (p.Ser779=) c.2307C= (p.Ser769=) c.1824C= (p.Ser608=) c.1719C= (p.Ser573=) | |
| 3 | g.122284261C>G | CA435424867 | CASR | c.2076C>G (p.Ser692=) c.2337C>G (p.Ser779=) c.2307C>G (p.Ser769=) c.1824C>G (p.Ser608=) c.1719C>G (p.Ser573=) | dbSNP |
| 3 | g.122284261C>T | CA82748907 | CASR | c.2076C>T (p.Ser692=) c.2337C>T (p.Ser779=) c.2307C>T (p.Ser769=) c.1824C>T (p.Ser608=) c.1719C>T (p.Ser573=) | dbSNP |
| 3 | g.122284262C>A | CA354159442 | CASR | c.2077C>A (p.Leu693Ile) c.2338C>A (p.Leu780Ile) c.2308C>A (p.Leu770Ile) c.1825C>A (p.Leu609Ile) c.1720C>A (p.Leu574Ile) | COSMIC |
| 3 | g.122284262C>G | CA354159443 | CASR | c.2077C>G (p.Leu693Val) c.2338C>G (p.Leu780Val) c.2308C>G (p.Leu770Val) c.1825C>G (p.Leu609Val) c.1720C>G (p.Leu574Val) | |
| 3 | g.122284262C>T | CA354159445 | CASR | c.2077C>T (p.Leu693Phe) c.2338C>T (p.Leu780Phe) c.2308C>T (p.Leu770Phe) c.1825C>T (p.Leu609Phe) c.1720C>T (p.Leu574Phe) | |
| 3 | g.122284263T>A | CA354159447 | CASR | c.2078T>A (p.Leu693His) c.2339T>A (p.Leu780His) c.2309T>A (p.Leu770His) c.1826T>A (p.Leu609His) c.1721T>A (p.Leu574His) | |
| 3 | g.122284263T>C | CA354159449 | CASR | c.2078T>C (p.Leu693Pro) c.2339T>C (p.Leu780Pro) c.2309T>C (p.Leu770Pro) c.1826T>C (p.Leu609Pro) c.1721T>C (p.Leu574Pro) | |
| 3 | g.122284263T>G | CA354159451 | CASR | c.2078T>G (p.Leu693Arg) c.2339T>G (p.Leu780Arg) c.2309T>G (p.Leu770Arg) c.1826T>G (p.Leu609Arg) c.1721T>G (p.Leu574Arg) | |
| 3 | g.122284264C>A | CA435424873 | CASR | c.2079C>A (p.Leu693=) c.2340C>A (p.Leu780=) c.2310C>A (p.Leu770=) c.1827C>A (p.Leu609=) c.1722C>A (p.Leu574=) | |
| 3 | g.122284264C>G | CA435424875 | CASR | c.2079C>G (p.Leu693=) c.2340C>G (p.Leu780=) c.2310C>G (p.Leu770=) c.1827C>G (p.Leu609=) c.1722C>G (p.Leu574=) | |
| 3 | g.122284264C>T | CA435424876 | CASR | c.2079C>T (p.Leu693=) c.2340C>T (p.Leu780=) c.2310C>T (p.Leu770=) c.1827C>T (p.Leu609=) c.1722C>T (p.Leu574=) | |
| 3 | g.122284265A= | CA1397872033 | CASR | c.2080A= (p.Met694=) c.2341A= (p.Met781=) c.2311A= (p.Met771=) c.1828A= (p.Met610=) c.1723A= (p.Met575=) | |
| 3 | g.122284265A>C | CA354159456 | CASR | c.2080A>C (p.Met694Leu) c.2341A>C (p.Met781Leu) c.2311A>C (p.Met771Leu) c.1828A>C (p.Met610Leu) c.1723A>C (p.Met575Leu) | gnomAD v4 |
| 3 | g.122284265A>G | CA354159455 | CASR | c.2080A>G (p.Met694Val) c.2341A>G (p.Met781Val) c.2311A>G (p.Met771Val) c.1828A>G (p.Met610Val) c.1723A>G (p.Met575Val) | ClinVar |
| 3 | g.122284265A>T | CA354159453 | CASR | c.2080A>T (p.Met694Leu) c.2341A>T (p.Met781Leu) c.2311A>T (p.Met771Leu) c.1828A>T (p.Met610Leu) c.1723A>T (p.Met575Leu) | ClinVar dbSNP |
| 3 | g.122284266T>A | CA354159458 | CASR | c.2081T>A (p.Met694Lys) c.2342T>A (p.Met781Lys) c.2312T>A (p.Met771Lys) c.1829T>A (p.Met610Lys) c.1724T>A (p.Met575Lys) | |
| 3 | g.122284266T>C | CA354159460 | CASR | c.2081T>C (p.Met694Thr) c.2342T>C (p.Met781Thr) c.2312T>C (p.Met771Thr) c.1829T>C (p.Met610Thr) c.1724T>C (p.Met575Thr) | |
| 3 | g.122284266T>G | CA354159462 | CASR | c.2081T>G (p.Met694Arg) c.2342T>G (p.Met781Arg) c.2312T>G (p.Met771Arg) c.1829T>G (p.Met610Arg) c.1724T>G (p.Met575Arg) | |
| 3 | g.122284267G>A | CA354159465 | CASR | c.2082G>A (p.Met694Ile) c.2343G>A (p.Met781Ile) c.2313G>A (p.Met771Ile) c.1830G>A (p.Met610Ile) c.1725G>A (p.Met575Ile) | |
| 3 | g.122284267G>C | CA354159467 | CASR | c.2082G>C (p.Met694Ile) c.2343G>C (p.Met781Ile) c.2313G>C (p.Met771Ile) c.1830G>C (p.Met610Ile) c.1725G>C (p.Met575Ile) | |
| 3 | g.122284267G>T | CA354159468 | CASR | c.2082G>T (p.Met694Ile) c.2343G>T (p.Met781Ile) c.2313G>T (p.Met771Ile) c.1830G>T (p.Met610Ile) c.1725G>T (p.Met575Ile) | |
| 3 | g.122284268G>A | CA2569813 | CASR | c.2083G>A (p.Ala695Thr) c.2344G>A (p.Ala782Thr) c.2314G>A (p.Ala772Thr) c.1831G>A (p.Ala611Thr) c.1726G>A (p.Ala576Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.122284268G>C | CA354159472 | CASR | c.2083G>C (p.Ala695Pro) c.2344G>C (p.Ala782Pro) c.2314G>C (p.Ala772Pro) c.1831G>C (p.Ala611Pro) c.1726G>C (p.Ala576Pro) | |
| 3 | g.122284268G= | CA1397872041 | CASR | c.2083G= (p.Ala695=) c.2344G= (p.Ala782=) c.2314G= (p.Ala772=) c.1831G= (p.Ala611=) c.1726G= (p.Ala576=) | |
| 3 | g.122284268G>T | CA354159474 | CASR | c.2083G>T (p.Ala695Ser) c.2344G>T (p.Ala782Ser) c.2314G>T (p.Ala772Ser) c.1831G>T (p.Ala611Ser) c.1726G>T (p.Ala576Ser) | |
| 3 | g.122284269C>A | CA354159477 | CASR | c.2084C>A (p.Ala695Asp) c.2345C>A (p.Ala782Asp) c.2315C>A (p.Ala772Asp) c.1832C>A (p.Ala611Asp) c.1727C>A (p.Ala576Asp) | |
| 3 | g.122284269C= | CA1397872048 | CASR | c.2084C= (p.Ala695=) c.2345C= (p.Ala782=) c.2315C= (p.Ala772=) c.1832C= (p.Ala611=) c.1727C= (p.Ala576=) | |
| 3 | g.122284269C>G | CA354159479 | CASR | c.2084C>G (p.Ala695Gly) c.2345C>G (p.Ala782Gly) c.2315C>G (p.Ala772Gly) c.1832C>G (p.Ala611Gly) c.1727C>G (p.Ala576Gly) | gnomAD v4 |
| 3 | g.122284269C>T | CA354159481 | CASR | c.2084C>T (p.Ala695Val) c.2345C>T (p.Ala782Val) c.2315C>T (p.Ala772Val) c.1832C>T (p.Ala611Val) c.1727C>T (p.Ala576Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.122284270C>A | CA435424887 | CASR | c.2085C>A (p.Ala695=) c.2346C>A (p.Ala782=) c.2316C>A (p.Ala772=) c.1833C>A (p.Ala611=) c.1728C>A (p.Ala576=) | |
| 3 | g.122284270C= | CA1397872056 | CASR | c.2085C= (p.Ala695=) c.2346C= (p.Ala782=) c.2316C= (p.Ala772=) c.1833C= (p.Ala611=) c.1728C= (p.Ala576=) | |
| 3 | g.122284270C>G | CA435424889 | CASR | c.2085C>G (p.Ala695=) c.2346C>G (p.Ala782=) c.2316C>G (p.Ala772=) c.1833C>G (p.Ala611=) c.1728C>G (p.Ala576=) | |
| 3 | g.122284270C>T | CA435424892 | CASR | c.2085C>T (p.Ala695=) c.2346C>T (p.Ala782=) c.2316C>T (p.Ala772=) c.1833C>T (p.Ala611=) c.1728C>T (p.Ala576=) | ClinVar dbSNP gnomAD v4 COSMIC |
| 3 | g.122284271C>A | CA354159483 | CASR | c.2086C>A (p.Leu696Met) c.2347C>A (p.Leu783Met) c.2317C>A (p.Leu773Met) c.1834C>A (p.Leu612Met) c.1729C>A (p.Leu577Met) | |
| 3 | g.122284271C= | CA1397872062 | CASR | c.2086C= (p.Leu696=) c.2347C= (p.Leu783=) c.2317C= (p.Leu773=) c.1834C= (p.Leu612=) c.1729C= (p.Leu577=) | |
| 3 | g.122284271C>G | CA354159485 | CASR | c.2086C>G (p.Leu696Val) c.2347C>G (p.Leu783Val) c.2317C>G (p.Leu773Val) c.1834C>G (p.Leu612Val) c.1729C>G (p.Leu577Val) | ClinVar |
| 3 | g.122284271C>T | CA435424896 | CASR | c.2086C>T (p.Leu696=) c.2347C>T (p.Leu783=) c.2317C>T (p.Leu773=) c.1834C>T (p.Leu612=) c.1729C>T (p.Leu577=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122284272T>A | CA354159487 | CASR | c.2087T>A (p.Leu696Gln) c.2348T>A (p.Leu783Gln) c.2318T>A (p.Leu773Gln) c.1835T>A (p.Leu612Gln) c.1730T>A (p.Leu577Gln) | |
| 3 | g.122284272T>C | CA354159489 | CASR | c.2087T>C (p.Leu696Pro) c.2348T>C (p.Leu783Pro) c.2318T>C (p.Leu773Pro) c.1835T>C (p.Leu612Pro) c.1730T>C (p.Leu577Pro) | |
| 3 | g.122284272T>G | CA119495 | CASR | c.2087T>G (p.Leu696Arg) c.2348T>G (p.Leu783Arg) c.2318T>G (p.Leu773Arg) c.1835T>G (p.Leu612Arg) c.1730T>G (p.Leu577Arg) | ClinVar dbSNP |
| 3 | g.122284272T= | CA1397872068 | CASR | c.2087T= (p.Leu696=) c.2348T= (p.Leu783=) c.2318T= (p.Leu773=) c.1835T= (p.Leu612=) c.1730T= (p.Leu577=) | |
| 3 | g.122284273G>A | CA435424900 | CASR | c.2088G>A (p.Leu696=) c.2349G>A (p.Leu783=) c.2319G>A (p.Leu773=) c.1836G>A (p.Leu612=) c.1731G>A (p.Leu577=) | |
| 3 | g.122284273G>C | CA435424901 | CASR | c.2088G>C (p.Leu696=) c.2349G>C (p.Leu783=) c.2319G>C (p.Leu773=) c.1836G>C (p.Leu612=) c.1731G>C (p.Leu577=) | |
| 3 | g.122284273G>T | CA435424902 | CASR | c.2088G>T (p.Leu696=) c.2349G>T (p.Leu783=) c.2319G>T (p.Leu773=) c.1836G>T (p.Leu612=) c.1731G>T (p.Leu577=) | |
| 3 | g.122284274G>A | CA354159491 | CASR | c.2089G>A (p.Gly697Ser) c.2350G>A (p.Gly784Ser) c.2320G>A (p.Gly774Ser) c.1837G>A (p.Gly613Ser) c.1732G>A (p.Gly578Ser) | ClinVar |
| 3 | g.122284274G>C | CA354159494 | CASR | c.2089G>C (p.Gly697Arg) c.2350G>C (p.Gly784Arg) c.2320G>C (p.Gly774Arg) c.1837G>C (p.Gly613Arg) c.1732G>C (p.Gly578Arg) | |
| 3 | g.122284274G>T | CA354159496 | CASR | c.2089G>T (p.Gly697Cys) c.2350G>T (p.Gly784Cys) c.2320G>T (p.Gly774Cys) c.1837G>T (p.Gly613Cys) c.1732G>T (p.Gly578Cys) | |
| 3 | g.122284275G>A | CA354159498 | CASR | c.2090G>A (p.Gly697Asp) c.2351G>A (p.Gly784Asp) c.2321G>A (p.Gly774Asp) c.1838G>A (p.Gly613Asp) c.1733G>A (p.Gly578Asp) | |
| 3 | g.122284275G>C | CA354159501 | CASR | c.2090G>C (p.Gly697Ala) c.2351G>C (p.Gly784Ala) c.2321G>C (p.Gly774Ala) c.1838G>C (p.Gly613Ala) c.1733G>C (p.Gly578Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.122284275G= | CA1397872074 | CASR | c.2090G= (p.Gly697=) c.2351G= (p.Gly784=) c.2321G= (p.Gly774=) c.1838G= (p.Gly613=) c.1733G= (p.Gly578=) | |
| 3 | g.122284275G>T | CA354159503 | CASR | c.2090G>T (p.Gly697Val) c.2351G>T (p.Gly784Val) c.2321G>T (p.Gly774Val) c.1838G>T (p.Gly613Val) c.1733G>T (p.Gly578Val) | |
| 3 | g.122284276C>A | CA435424911 | CASR | c.2091C>A (p.Gly697=) c.2352C>A (p.Gly784=) c.2322C>A (p.Gly774=) c.1839C>A (p.Gly613=) c.1734C>A (p.Gly578=) | ClinVar |
| 3 | g.122284276C>G | CA435424914 | CASR | c.2091C>G (p.Gly697=) c.2352C>G (p.Gly784=) c.2322C>G (p.Gly774=) c.1839C>G (p.Gly613=) c.1734C>G (p.Gly578=) | |
| 3 | g.122284276C>T | CA435424915 | CASR | c.2091C>T (p.Gly697=) c.2352C>T (p.Gly784=) c.2322C>T (p.Gly774=) c.1839C>T (p.Gly613=) c.1734C>T (p.Gly578=) | |
| 3 | g.122284277T>A | CA354159505 | CASR | c.2092T>A (p.Phe698Ile) c.2353T>A (p.Phe785Ile) c.2323T>A (p.Phe775Ile) c.1840T>A (p.Phe614Ile) c.1735T>A (p.Phe579Ile) | |
| 3 | g.122284277T>C | CA354159507 | CASR | c.2092T>C (p.Phe698Leu) c.2353T>C (p.Phe785Leu) c.2323T>C (p.Phe775Leu) c.1840T>C (p.Phe614Leu) c.1735T>C (p.Phe579Leu) | |
| 3 | g.122284277T>G | CA354159509 | CASR | c.2092T>G (p.Phe698Val) c.2353T>G (p.Phe785Val) c.2323T>G (p.Phe775Val) c.1840T>G (p.Phe614Val) c.1735T>G (p.Phe579Val) | ClinVar |
| 3 | g.122284278T>A | CA354159512 | CASR | c.2093T>A (p.Phe698Tyr) c.2354T>A (p.Phe785Tyr) c.2324T>A (p.Phe775Tyr) c.1841T>A (p.Phe614Tyr) c.1736T>A (p.Phe579Tyr) | |
| 3 | g.122284278T>C | CA354159513 | CASR | c.2093T>C (p.Phe698Ser) c.2354T>C (p.Phe785Ser) c.2324T>C (p.Phe775Ser) c.1841T>C (p.Phe614Ser) c.1736T>C (p.Phe579Ser) | ClinVar |
| 3 | g.122284278T>G | CA354159515 | CASR | c.2093T>G (p.Phe698Cys) c.2354T>G (p.Phe785Cys) c.2324T>G (p.Phe775Cys) c.1841T>G (p.Phe614Cys) c.1736T>G (p.Phe579Cys) | |
| 3 | g.122284279C>A | CA354159519 | CASR | c.2094C>A (p.Phe698Leu) c.2355C>A (p.Phe785Leu) c.2325C>A (p.Phe775Leu) c.1842C>A (p.Phe614Leu) c.1737C>A (p.Phe579Leu) | |
| 3 | g.122284279C= | CA1397872078 | CASR | c.2094C= (p.Phe698=) c.2355C= (p.Phe785=) c.2325C= (p.Phe775=) c.1842C= (p.Phe614=) c.1737C= (p.Phe579=) | |
| 3 | g.122284279C>G | CA354159517 | CASR | c.2094C>G (p.Phe698Leu) c.2355C>G (p.Phe785Leu) c.2325C>G (p.Phe775Leu) c.1842C>G (p.Phe614Leu) c.1737C>G (p.Phe579Leu) | ClinVar dbSNP |
| 3 | g.122284279C>T | CA2569814 | CASR | c.2094C>T (p.Phe698=) c.2355C>T (p.Phe785=) c.2325C>T (p.Phe775=) c.1842C>T (p.Phe614=) c.1737C>T (p.Phe579=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 3 | g.122284280C>A | CA354159522 | CASR | c.2095C>A (p.Leu699Met) c.2356C>A (p.Leu786Met) c.2326C>A (p.Leu776Met) c.1843C>A (p.Leu615Met) c.1738C>A (p.Leu580Met) | |
| 3 | g.122284280C>G | CA354159524 | CASR | c.2095C>G (p.Leu699Val) c.2356C>G (p.Leu786Val) c.2326C>G (p.Leu776Val) c.1843C>G (p.Leu615Val) c.1738C>G (p.Leu580Val) | |
| 3 | g.122284280C>T | CA435424920 | CASR | c.2095C>T (p.Leu699=) c.2356C>T (p.Leu786=) c.2326C>T (p.Leu776=) c.1843C>T (p.Leu615=) c.1738C>T (p.Leu580=) | ClinVar |
| 3 | g.122284281T>A | CA354159527 | CASR | c.2096T>A (p.Leu699Gln) c.2357T>A (p.Leu786Gln) c.2327T>A (p.Leu776Gln) c.1844T>A (p.Leu615Gln) c.1739T>A (p.Leu580Gln) | |
| 3 | g.122284281T>C | CA354159528 | CASR | c.2096T>C (p.Leu699Pro) c.2357T>C (p.Leu786Pro) c.2327T>C (p.Leu776Pro) c.1844T>C (p.Leu615Pro) c.1739T>C (p.Leu580Pro) | |
| 3 | g.122284281T>G | CA354159530 | CASR | c.2096T>G (p.Leu699Arg) c.2357T>G (p.Leu786Arg) c.2327T>G (p.Leu776Arg) c.1844T>G (p.Leu615Arg) c.1739T>G (p.Leu580Arg) | |
| 3 | g.122284282G>A | CA2569815 | CASR | c.2097G>A (p.Leu699=) c.2358G>A (p.Leu786=) c.2328G>A (p.Leu776=) c.1845G>A (p.Leu615=) c.1740G>A (p.Leu580=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122284282G>C | CA435424924 | CASR | c.2097G>C (p.Leu699=) c.2358G>C (p.Leu786=) c.2328G>C (p.Leu776=) c.1845G>C (p.Leu615=) c.1740G>C (p.Leu580=) | |
| 3 | g.122284282G= | CA1397872086 | CASR | c.2097G= (p.Leu699=) c.2358G= (p.Leu786=) c.2328G= (p.Leu776=) c.1845G= (p.Leu615=) c.1740G= (p.Leu580=) | |
| 3 | g.122284282G>T | CA435424925 | CASR | c.2097G>T (p.Leu699=) c.2358G>T (p.Leu786=) c.2328G>T (p.Leu776=) c.1845G>T (p.Leu615=) c.1740G>T (p.Leu580=) | gnomAD v4 |
| 3 | g.122284283A= | CA1397872091 | CASR | c.2098A= (p.Ile700=) c.2359A= (p.Ile787=) c.2329A= (p.Ile777=) c.1846A= (p.Ile616=) c.1741A= (p.Ile581=) | |
| 3 | g.122284283A>C | CA354159533 | CASR | c.2098A>C (p.Ile700Leu) c.2359A>C (p.Ile787Leu) c.2329A>C (p.Ile777Leu) c.1846A>C (p.Ile616Leu) c.1741A>C (p.Ile581Leu) | ClinVar dbSNP |
| 3 | g.122284283A>G | CA354159535 | CASR | c.2098A>G (p.Ile700Val) c.2359A>G (p.Ile787Val) c.2329A>G (p.Ile777Val) c.1846A>G (p.Ile616Val) c.1741A>G (p.Ile581Val) | |
| 3 | g.122284283A>T | CA354159537 | CASR | c.2098A>T (p.Ile700Phe) c.2359A>T (p.Ile787Phe) c.2329A>T (p.Ile777Phe) c.1846A>T (p.Ile616Phe) c.1741A>T (p.Ile581Phe) | |
| 3 | g.122284284T>A | CA354159540 | CASR | c.2099T>A (p.Ile700Asn) c.2360T>A (p.Ile787Asn) c.2330T>A (p.Ile777Asn) c.1847T>A (p.Ile616Asn) c.1742T>A (p.Ile581Asn) | |
| 3 | g.122284284T>C | CA354159542 | CASR | c.2099T>C (p.Ile700Thr) c.2360T>C (p.Ile787Thr) c.2330T>C (p.Ile777Thr) c.1847T>C (p.Ile616Thr) c.1742T>C (p.Ile581Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.122284284T>G | CA354159544 | CASR | c.2099T>G (p.Ile700Ser) c.2360T>G (p.Ile787Ser) c.2330T>G (p.Ile777Ser) c.1847T>G (p.Ile616Ser) c.1742T>G (p.Ile581Ser) | |
| 3 | g.122284284T= | CA1397872094 | CASR | c.2099T= (p.Ile700=) c.2360T= (p.Ile787=) c.2330T= (p.Ile777=) c.1847T= (p.Ile616=) c.1742T= (p.Ile581=) | |
| 3 | g.122284285C>A | CA435424930 | CASR | c.2100C>A (p.Ile700=) c.2361C>A (p.Ile787=) c.2331C>A (p.Ile777=) c.1848C>A (p.Ile616=) c.1743C>A (p.Ile581=) | |
| 3 | g.122284285C= | CA1397872100 | CASR | c.2100C= (p.Ile700=) c.2361C= (p.Ile787=) c.2331C= (p.Ile777=) c.1848C= (p.Ile616=) c.1743C= (p.Ile581=) | |
| 3 | g.122284285C>G | CA354159546 | CASR | c.2100C>G (p.Ile700Met) c.2361C>G (p.Ile787Met) c.2331C>G (p.Ile777Met) c.1848C>G (p.Ile616Met) c.1743C>G (p.Ile581Met) | |
| 3 | g.122284285C>T | CA2569816 | CASR | c.2100C>T (p.Ile700=) c.2361C>T (p.Ile787=) c.2331C>T (p.Ile777=) c.1848C>T (p.Ile616=) c.1743C>T (p.Ile581=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.122284285_122284286insAGC | CA2586972869 | CASR | c.2100_2101insAGC (p.Ile700_Gly701insSer) c.2361_2362insAGC (p.Ile787_Gly788insSer) c.2331_2332insAGC (p.Ile777_Gly778insSer) c.1848_1849insAGC (p.Ile616_Gly617insSer) c.1743_1744insAGC (p.Ile581_Gly582insSer) | |
| 3 | g.122284286G>A | CA354159548 | CASR | c.2101G>A (p.Gly701Ser) c.2362G>A (p.Gly788Ser) c.2332G>A (p.Gly778Ser) c.1849G>A (p.Gly617Ser) c.1744G>A (p.Gly582Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122284286G>C | CA354159549 | CASR | c.2101G>C (p.Gly701Arg) c.2362G>C (p.Gly788Arg) c.2332G>C (p.Gly778Arg) c.1849G>C (p.Gly617Arg) c.1744G>C (p.Gly582Arg) | ClinVar dbSNP |
| 3 | g.122284286G= | CA1397872104 | CASR | c.2101G= (p.Gly701=) c.2362G= (p.Gly788=) c.2332G= (p.Gly778=) c.1849G= (p.Gly617=) c.1744G= (p.Gly582=) | |
| 3 | g.122284286G>T | CA354159550 | CASR | c.2101G>T (p.Gly701Cys) c.2362G>T (p.Gly788Cys) c.2332G>T (p.Gly778Cys) c.1849G>T (p.Gly617Cys) c.1744G>T (p.Gly582Cys) | ClinVar gnomAD v4 |
| 3 | g.122284287G>A | CA354159552 | CASR | c.2102G>A (p.Gly701Asp) c.2363G>A (p.Gly788Asp) c.2333G>A (p.Gly778Asp) c.1850G>A (p.Gly617Asp) c.1745G>A (p.Gly582Asp) | ClinVar dbSNP |
| 3 | g.122284287G>C | CA354159553 | CASR | c.2102G>C (p.Gly701Ala) c.2363G>C (p.Gly788Ala) c.2333G>C (p.Gly778Ala) c.1850G>C (p.Gly617Ala) c.1745G>C (p.Gly582Ala) | |
| 3 | g.122284287G= | CA1397872107 | CASR | c.2102G= (p.Gly701=) c.2363G= (p.Gly788=) c.2333G= (p.Gly778=) c.1850G= (p.Gly617=) c.1745G= (p.Gly582=) | |
| 3 | g.122284287G>T | CA354159555 | CASR | c.2102G>T (p.Gly701Val) c.2363G>T (p.Gly788Val) c.2333G>T (p.Gly778Val) c.1850G>T (p.Gly617Val) c.1745G>T (p.Gly582Val) | |
| 3 | g.122284288del | CA2586972870 | CASR | c.2103del (p.Tyr702ThrfsTer?) c.2364del (p.Tyr789ThrfsTer?) c.2334del (p.Tyr779ThrfsTer?) c.1851del (p.Tyr618ThrfsTer?) c.1746del (p.Tyr583ThrfsTer?) | |
| 3 | g.122284288C>A | CA435424935 | CASR | c.2103C>A (p.Gly701=) c.2364C>A (p.Gly788=) c.2334C>A (p.Gly778=) c.1851C>A (p.Gly617=) c.1746C>A (p.Gly582=) | |
| 3 | g.122284288C= | CA1397872110 | CASR | c.2103C= (p.Gly701=) c.2364C= (p.Gly788=) c.2334C= (p.Gly778=) c.1851C= (p.Gly617=) c.1746C= (p.Gly582=) | |
| 3 | g.122284288C>G | CA435424936 | CASR | c.2103C>G (p.Gly701=) c.2364C>G (p.Gly788=) c.2334C>G (p.Gly778=) c.1851C>G (p.Gly617=) c.1746C>G (p.Gly582=) | |
| 3 | g.122284288C>T | CA435424937 | CASR | c.2103C>T (p.Gly701=) c.2364C>T (p.Gly788=) c.2334C>T (p.Gly778=) c.1851C>T (p.Gly617=) c.1746C>T (p.Gly582=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122284289T>A | CA354159561 | CASR | c.2104T>A (p.Tyr702Asn) c.2365T>A (p.Tyr789Asn) c.2335T>A (p.Tyr779Asn) c.1852T>A (p.Tyr618Asn) c.1747T>A (p.Tyr583Asn) | |
| 3 | g.122284289T>C | CA2569817 | CASR | c.2104T>C (p.Tyr702His) c.2365T>C (p.Tyr789His) c.2335T>C (p.Tyr779His) c.1852T>C (p.Tyr618His) c.1747T>C (p.Tyr583His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.122284289T>G | CA354159558 | CASR | c.2104T>G (p.Tyr702Asp) c.2365T>G (p.Tyr789Asp) c.2335T>G (p.Tyr779Asp) c.1852T>G (p.Tyr618Asp) c.1747T>G (p.Tyr583Asp) | |
| 3 | g.122284289T= | CA1397872113 | CASR | c.2104T= (p.Tyr702=) c.2365T= (p.Tyr789=) c.2335T= (p.Tyr779=) c.1852T= (p.Tyr618=) c.1747T= (p.Tyr583=) | |
| 3 | g.122284290A= | CA1397872116 | CASR | c.2105A= (p.Tyr702=) c.2366A= (p.Tyr789=) c.2336A= (p.Tyr779=) c.1853A= (p.Tyr618=) c.1748A= (p.Tyr583=) | |
| 3 | g.122284290A>C | CA354159562 | CASR | c.2105A>C (p.Tyr702Ser) c.2366A>C (p.Tyr789Ser) c.2336A>C (p.Tyr779Ser) c.1853A>C (p.Tyr618Ser) c.1748A>C (p.Tyr583Ser) | dbSNP |
| 3 | g.122284290A>G | CA354159563 | CASR | c.2105A>G (p.Tyr702Cys) c.2366A>G (p.Tyr789Cys) c.2336A>G (p.Tyr779Cys) c.1853A>G (p.Tyr618Cys) c.1748A>G (p.Tyr583Cys) | |
| 3 | g.122284290A>T | CA354159565 | CASR | c.2105A>T (p.Tyr702Phe) c.2366A>T (p.Tyr789Phe) c.2336A>T (p.Tyr779Phe) c.1853A>T (p.Tyr618Phe) c.1748A>T (p.Tyr583Phe) | |
| 3 | g.122284291C>A | CA354159568 | CASR | c.2106C>A (p.Tyr702Ter) c.2367C>A (p.Tyr789Ter) c.2337C>A (p.Tyr779Ter) c.1854C>A (p.Tyr618Ter) c.1749C>A (p.Tyr583Ter) | gnomAD v4 |
| 3 | g.122284291C= | CA1397872118 | CASR | c.2106C= (p.Tyr702=) c.2367C= (p.Tyr789=) c.2337C= (p.Tyr779=) c.1854C= (p.Tyr618=) c.1749C= (p.Tyr583=) | |
| 3 | g.122284291C>G | CA354159571 | CASR | c.2106C>G (p.Tyr702Ter) c.2367C>G (p.Tyr789Ter) c.2337C>G (p.Tyr779Ter) c.1854C>G (p.Tyr618Ter) c.1749C>G (p.Tyr583Ter) | |
| 3 | g.122284291C>T | CA435424942 | CASR | c.2106C>T (p.Tyr702=) c.2367C>T (p.Tyr789=) c.2337C>T (p.Tyr779=) c.1854C>T (p.Tyr618=) c.1749C>T (p.Tyr583=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122284292A= | CA1397872119 | CASR | c.2107A= (p.Thr703=) c.2368A= (p.Thr790=) c.2338A= (p.Thr780=) c.1855A= (p.Thr619=) c.1750A= (p.Thr584=) | |
| 3 | g.122284292A>C | CA354159577 | CASR | c.2107A>C (p.Thr703Pro) c.2368A>C (p.Thr790Pro) c.2338A>C (p.Thr780Pro) c.1855A>C (p.Thr619Pro) c.1750A>C (p.Thr584Pro) | dbSNP |
| 3 | g.122284292A>G | CA354159573 | CASR | c.2107A>G (p.Thr703Ala) c.2368A>G (p.Thr790Ala) c.2338A>G (p.Thr780Ala) c.1855A>G (p.Thr619Ala) c.1750A>G (p.Thr584Ala) | COSMIC |
| 3 | g.122284292A>T | CA354159575 | CASR | c.2107A>T (p.Thr703Ser) c.2368A>T (p.Thr790Ser) c.2338A>T (p.Thr780Ser) c.1855A>T (p.Thr619Ser) c.1750A>T (p.Thr584Ser) | |
| 3 | g.122284293C>A | CA354159579 | CASR | c.2108C>A (p.Thr703Asn) c.2369C>A (p.Thr790Asn) c.2339C>A (p.Thr780Asn) c.1856C>A (p.Thr619Asn) c.1751C>A (p.Thr584Asn) | ClinVar dbSNP |
| 3 | g.122284293C= | CA1397872131 | CASR | c.2108C= (p.Thr703=) c.2369C= (p.Thr790=) c.2339C= (p.Thr780=) c.1856C= (p.Thr619=) c.1751C= (p.Thr584=) | |
| 3 | g.122284293C>G | CA354159581 | CASR | c.2108C>G (p.Thr703Ser) c.2369C>G (p.Thr790Ser) c.2339C>G (p.Thr780Ser) c.1856C>G (p.Thr619Ser) c.1751C>G (p.Thr584Ser) | ClinVar dbSNP |
| 3 | g.122284293C>T | CA2569818 | CASR | c.2108C>T (p.Thr703Ile) c.2369C>T (p.Thr790Ile) c.2339C>T (p.Thr780Ile) c.1856C>T (p.Thr619Ile) c.1751C>T (p.Thr584Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.122284294C>A | CA435425078 | CASR | c.2109C>A (p.Thr703=) c.2370C>A (p.Thr790=) c.2340C>A (p.Thr780=) c.1857C>A (p.Thr619=) c.1752C>A (p.Thr584=) | COSMIC |
| 3 | g.122284294C>G | CA435425080 | CASR | c.2109C>G (p.Thr703=) c.2370C>G (p.Thr790=) c.2340C>G (p.Thr780=) c.1857C>G (p.Thr619=) c.1752C>G (p.Thr584=) | |
| 3 | g.122284294C>T | CA435425082 | CASR | c.2109C>T (p.Thr703=) c.2370C>T (p.Thr790=) c.2340C>T (p.Thr780=) c.1857C>T (p.Thr619=) c.1752C>T (p.Thr584=) | gnomAD v4 |
| 3 | g.122284295T>A | CA354159585 | CASR | c.2110T>A (p.Cys704Ser) c.2371T>A (p.Cys791Ser) c.2341T>A (p.Cys781Ser) c.1858T>A (p.Cys620Ser) c.1753T>A (p.Cys585Ser) | ClinVar dbSNP |
| 3 | g.122284295T>C | CA354159586 | CASR | c.2110T>C (p.Cys704Arg) c.2371T>C (p.Cys791Arg) c.2341T>C (p.Cys781Arg) c.1858T>C (p.Cys620Arg) c.1753T>C (p.Cys585Arg) | |
| 3 | g.122284295T>G | CA354159587 | CASR | c.2110T>G (p.Cys704Gly) c.2371T>G (p.Cys791Gly) c.2341T>G (p.Cys781Gly) c.1858T>G (p.Cys620Gly) c.1753T>G (p.Cys585Gly) | |
| 3 | g.122284296G>A | CA354159588 | CASR | c.2111G>A (p.Cys704Tyr) c.2372G>A (p.Cys791Tyr) c.2342G>A (p.Cys781Tyr) c.1859G>A (p.Cys620Tyr) c.1754G>A (p.Cys585Tyr) | |
| 3 | g.122284296G>C | CA354159589 | CASR | c.2111G>C (p.Cys704Ser) c.2372G>C (p.Cys791Ser) c.2342G>C (p.Cys781Ser) c.1859G>C (p.Cys620Ser) c.1754G>C (p.Cys585Ser) | |
| 3 | g.122284296G>T | CA354159590 | CASR | c.2111G>T (p.Cys704Phe) c.2372G>T (p.Cys791Phe) c.2342G>T (p.Cys781Phe) c.1859G>T (p.Cys620Phe) c.1754G>T (p.Cys585Phe) | |
| 3 | g.122284297C>A | CA354159591 | CASR | c.2112C>A (p.Cys704Ter) c.2373C>A (p.Cys791Ter) c.2343C>A (p.Cys781Ter) c.1860C>A (p.Cys620Ter) c.1755C>A (p.Cys585Ter) | |
| 3 | g.122284297C= | CA1397872140 | CASR | c.2112C= (p.Cys704=) c.2373C= (p.Cys791=) c.2343C= (p.Cys781=) c.1860C= (p.Cys620=) c.1755C= (p.Cys585=) | |
| 3 | g.122284297C>G | CA354159592 | CASR | c.2112C>G (p.Cys704Trp) c.2373C>G (p.Cys791Trp) c.2343C>G (p.Cys781Trp) c.1860C>G (p.Cys620Trp) c.1755C>G (p.Cys585Trp) | |
| 3 | g.122284297C>T | CA435425088 | CASR | c.2112C>T (p.Cys704=) c.2373C>T (p.Cys791=) c.2343C>T (p.Cys781=) c.1860C>T (p.Cys620=) c.1755C>T (p.Cys585=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122284298C>A | CA354159593 | CASR | c.2113C>A (p.Leu705Met) c.2374C>A (p.Leu792Met) c.2344C>A (p.Leu782Met) c.1861C>A (p.Leu621Met) c.1756C>A (p.Leu586Met) | dbSNP gnomAD v4 |
| 3 | g.122284298C= | CA1397872147 | CASR | c.2113C= (p.Leu705=) c.2374C= (p.Leu792=) c.2344C= (p.Leu782=) c.1861C= (p.Leu621=) c.1756C= (p.Leu586=) | |
| 3 | g.122284298C>G | CA354159594 | CASR | c.2113C>G (p.Leu705Val) c.2374C>G (p.Leu792Val) c.2344C>G (p.Leu782Val) c.1861C>G (p.Leu621Val) c.1756C>G (p.Leu586Val) | |
| 3 | g.122284298C>T | CA435425090 | CASR | c.2113C>T (p.Leu705=) c.2374C>T (p.Leu792=) c.2344C>T (p.Leu782=) c.1861C>T (p.Leu621=) c.1756C>T (p.Leu586=) | |
| 3 | g.122284299T>A | CA354159595 | CASR | c.2114T>A (p.Leu705Gln) c.2375T>A (p.Leu792Gln) c.2345T>A (p.Leu782Gln) c.1862T>A (p.Leu621Gln) c.1757T>A (p.Leu586Gln) | |
| 3 | g.122284299T>C | CA354159597 | CASR | c.2114T>C (p.Leu705Pro) c.2375T>C (p.Leu792Pro) c.2345T>C (p.Leu782Pro) c.1862T>C (p.Leu621Pro) c.1757T>C (p.Leu586Pro) | |
| 3 | g.122284299T>G | CA354159596 | CASR | c.2114T>G (p.Leu705Arg) c.2375T>G (p.Leu792Arg) c.2345T>G (p.Leu782Arg) c.1862T>G (p.Leu621Arg) c.1757T>G (p.Leu586Arg) | |
| 3 | g.122284300G>A | CA435425094 | CASR | c.2115G>A (p.Leu705=) c.2376G>A (p.Leu792=) c.2346G>A (p.Leu782=) c.1863G>A (p.Leu621=) c.1758G>A (p.Leu586=) | COSMIC |
| 3 | g.122284300G>C | CA435425097 | CASR | c.2115G>C (p.Leu705=) c.2376G>C (p.Leu792=) c.2346G>C (p.Leu782=) c.1863G>C (p.Leu621=) c.1758G>C (p.Leu586=) | ClinVar |
| 3 | g.122284300G>T | CA435425096 | CASR | c.2115G>T (p.Leu705=) c.2376G>T (p.Leu792=) c.2346G>T (p.Leu782=) c.1863G>T (p.Leu621=) c.1758G>T (p.Leu586=) | |
| 3 | g.122284301C>A | CA354159598 | CASR | c.2116C>A (p.Leu706Met) c.2377C>A (p.Leu793Met) c.2347C>A (p.Leu783Met) c.1864C>A (p.Leu622Met) c.1759C>A (p.Leu587Met) | |
| 3 | g.122284301C>G | CA354159599 | CASR | c.2116C>G (p.Leu706Val) c.2377C>G (p.Leu793Val) c.2347C>G (p.Leu783Val) c.1864C>G (p.Leu622Val) c.1759C>G (p.Leu587Val) | |
| 3 | g.122284301C>T | CA435425098 | CASR | c.2116C>T (p.Leu706=) c.2377C>T (p.Leu793=) c.2347C>T (p.Leu783=) c.1864C>T (p.Leu622=) c.1759C>T (p.Leu587=) | ClinVar |
| 3 | g.122284302T>A | CA354159600 | CASR | c.2117T>A (p.Leu706Gln) c.2378T>A (p.Leu793Gln) c.2348T>A (p.Leu783Gln) c.1865T>A (p.Leu622Gln) c.1760T>A (p.Leu587Gln) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.122284302T>C | CA354159601 | CASR | c.2117T>C (p.Leu706Pro) c.2378T>C (p.Leu793Pro) c.2348T>C (p.Leu783Pro) c.1865T>C (p.Leu622Pro) c.1760T>C (p.Leu587Pro) | |
| 3 | g.122284302T>G | CA354159602 | CASR | c.2117T>G (p.Leu706Arg) c.2378T>G (p.Leu793Arg) c.2348T>G (p.Leu783Arg) c.1865T>G (p.Leu622Arg) c.1760T>G (p.Leu587Arg) | |
| 3 | g.122284302T= | CA1397872151 | CASR | c.2117T= (p.Leu706=) c.2378T= (p.Leu793=) c.2348T= (p.Leu783=) c.1865T= (p.Leu622=) c.1760T= (p.Leu587=) | |
| 3 | g.122284303G>A | CA435425099 | CASR | c.2118G>A (p.Leu706=) c.2379G>A (p.Leu793=) c.2349G>A (p.Leu783=) c.1866G>A (p.Leu622=) c.1761G>A (p.Leu587=) | ClinVar dbSNP |
| 3 | g.122284303G>C | CA435425101 | CASR | c.2118G>C (p.Leu706=) c.2379G>C (p.Leu793=) c.2349G>C (p.Leu783=) c.1866G>C (p.Leu622=) c.1761G>C (p.Leu587=) | |
| 3 | g.122284303G= | CA1397872156 | CASR | c.2118G= (p.Leu706=) c.2379G= (p.Leu793=) c.2349G= (p.Leu783=) c.1866G= (p.Leu622=) c.1761G= (p.Leu587=) | |
| 3 | g.122284303G>T | CA435425102 | CASR | c.2118G>T (p.Leu706=) c.2379G>T (p.Leu793=) c.2349G>T (p.Leu783=) c.1866G>T (p.Leu622=) c.1761G>T (p.Leu587=) | |
| 3 | g.122284304G>A | CA354159605 | CASR | c.2119G>A (p.Ala707Thr) c.2380G>A (p.Ala794Thr) c.2350G>A (p.Ala784Thr) c.1867G>A (p.Ala623Thr) c.1762G>A (p.Ala588Thr) | gnomAD v4 |
| 3 | g.122284304G>C | CA354159604 | CASR | c.2119G>C (p.Ala707Pro) c.2380G>C (p.Ala794Pro) c.2350G>C (p.Ala784Pro) c.1867G>C (p.Ala623Pro) c.1762G>C (p.Ala588Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.122284304G= | CA1397872158 | CASR | c.2119G= (p.Ala707=) c.2380G= (p.Ala794=) c.2350G= (p.Ala784=) c.1867G= (p.Ala623=) c.1762G= (p.Ala588=) | |
| 3 | g.122284304G>T | CA354159603 | CASR | c.2119G>T (p.Ala707Ser) c.2380G>T (p.Ala794Ser) c.2350G>T (p.Ala784Ser) c.1867G>T (p.Ala623Ser) c.1762G>T (p.Ala588Ser) | COSMIC |
| 3 | g.122284305C>A | CA354159606 | CASR | c.2120C>A (p.Ala707Asp) c.2381C>A (p.Ala794Asp) c.2351C>A (p.Ala784Asp) c.1868C>A (p.Ala623Asp) c.1763C>A (p.Ala588Asp) | |
| 3 | g.122284305C>G | CA354159607 | CASR | c.2120C>G (p.Ala707Gly) c.2381C>G (p.Ala794Gly) c.2351C>G (p.Ala784Gly) c.1868C>G (p.Ala623Gly) c.1763C>G (p.Ala588Gly) | |
| 3 | g.122284305C>T | CA354159608 | CASR | c.2120C>T (p.Ala707Val) c.2381C>T (p.Ala794Val) c.2351C>T (p.Ala784Val) c.1868C>T (p.Ala623Val) c.1763C>T (p.Ala588Val) | |
| 3 | g.122284306T>A | CA435425104 | CASR | c.2121T>A (p.Ala707=) c.2382T>A (p.Ala794=) c.2352T>A (p.Ala784=) c.1869T>A (p.Ala623=) c.1764T>A (p.Ala588=) | dbSNP |
| 3 | g.122284306T>C | CA435425105 | CASR | c.2121T>C (p.Ala707=) c.2382T>C (p.Ala794=) c.2352T>C (p.Ala784=) c.1869T>C (p.Ala623=) c.1764T>C (p.Ala588=) | |
| 3 | g.122284306T>G | CA435425107 | CASR | c.2121T>G (p.Ala707=) c.2382T>G (p.Ala794=) c.2352T>G (p.Ala784=) c.1869T>G (p.Ala623=) c.1764T>G (p.Ala588=) | ClinVar |
| 3 | g.122284307G>A | CA354159609 | CASR | c.2122G>A (p.Ala708Thr) c.2383G>A (p.Ala795Thr) c.2353G>A (p.Ala785Thr) c.1870G>A (p.Ala624Thr) c.1765G>A (p.Ala589Thr) | |
| 3 | g.122284307G>C | CA354159610 | CASR | c.2122G>C (p.Ala708Pro) c.2383G>C (p.Ala795Pro) c.2353G>C (p.Ala785Pro) c.1870G>C (p.Ala624Pro) c.1765G>C (p.Ala589Pro) | |
| 3 | g.122284307G>T | CA354159611 | CASR | c.2122G>T (p.Ala708Ser) c.2383G>T (p.Ala795Ser) c.2353G>T (p.Ala785Ser) c.1870G>T (p.Ala624Ser) c.1765G>T (p.Ala589Ser) | |
| 3 | g.122284308C>A | CA354159612 | CASR | c.2123C>A (p.Ala708Asp) c.2384C>A (p.Ala795Asp) c.2354C>A (p.Ala785Asp) c.1871C>A (p.Ala624Asp) c.1766C>A (p.Ala589Asp) | |
| 3 | g.122284308C>G | CA354159614 | CASR | c.2123C>G (p.Ala708Gly) c.2384C>G (p.Ala795Gly) c.2354C>G (p.Ala785Gly) c.1871C>G (p.Ala624Gly) c.1766C>G (p.Ala589Gly) | |
| 3 | g.122284308C>T | CA354159613 | CASR | c.2123C>T (p.Ala708Val) c.2384C>T (p.Ala795Val) c.2354C>T (p.Ala785Val) c.1871C>T (p.Ala624Val) c.1766C>T (p.Ala589Val) | |
| 3 | g.122284309C>A | CA435425111 | CASR | c.2124C>A (p.Ala708=) c.2385C>A (p.Ala795=) c.2355C>A (p.Ala785=) c.1872C>A (p.Ala624=) c.1767C>A (p.Ala589=) | |
| 3 | g.122284309C= | CA1397872160 | CASR | c.2124C= (p.Ala708=) c.2385C= (p.Ala795=) c.2355C= (p.Ala785=) c.1872C= (p.Ala624=) c.1767C= (p.Ala589=) | |
| 3 | g.122284309C>G | CA435425112 | CASR | c.2124C>G (p.Ala708=) c.2385C>G (p.Ala795=) c.2355C>G (p.Ala785=) c.1872C>G (p.Ala624=) c.1767C>G (p.Ala589=) | |
| 3 | g.122284309C>T | CA435425113 | CASR | c.2124C>T (p.Ala708=) c.2385C>T (p.Ala795=) c.2355C>T (p.Ala785=) c.1872C>T (p.Ala624=) c.1767C>T (p.Ala589=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.122284310A= | CA1397872165 | CASR | c.2125A= (p.Ile709=) c.2386A= (p.Ile796=) c.2356A= (p.Ile786=) c.1873A= (p.Ile625=) c.1768A= (p.Ile590=) | |
| 3 | g.122284310A>C | CA354159615 | CASR | c.2125A>C (p.Ile709Leu) c.2386A>C (p.Ile796Leu) c.2356A>C (p.Ile786Leu) c.1873A>C (p.Ile625Leu) c.1768A>C (p.Ile590Leu) | |
| 3 | g.122284310A>G | CA2569819 | CASR | c.2125A>G (p.Ile709Val) c.2386A>G (p.Ile796Val) c.2356A>G (p.Ile786Val) c.1873A>G (p.Ile625Val) c.1768A>G (p.Ile590Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122284310A>T | CA354159616 | CASR | c.2125A>T (p.Ile709Phe) c.2386A>T (p.Ile796Phe) c.2356A>T (p.Ile786Phe) c.1873A>T (p.Ile625Phe) c.1768A>T (p.Ile590Phe) | |
| 3 | g.122284311T>A | CA354159617 | CASR | c.2126T>A (p.Ile709Asn) c.2387T>A (p.Ile796Asn) c.2357T>A (p.Ile786Asn) c.1874T>A (p.Ile625Asn) c.1769T>A (p.Ile590Asn) | |
| 3 | g.122284311T>C | CA354159618 | CASR | c.2126T>C (p.Ile709Thr) c.2387T>C (p.Ile796Thr) c.2357T>C (p.Ile786Thr) c.1874T>C (p.Ile625Thr) c.1769T>C (p.Ile590Thr) | gnomAD v4 |
| 3 | g.122284311T>G | CA354159619 | CASR | c.2126T>G (p.Ile709Ser) c.2387T>G (p.Ile796Ser) c.2357T>G (p.Ile786Ser) c.1874T>G (p.Ile625Ser) c.1769T>G (p.Ile590Ser) | |
| 3 | g.122284312C>A | CA435425115 | CASR | c.2127C>A (p.Ile709=) c.2388C>A (p.Ile796=) c.2358C>A (p.Ile786=) c.1875C>A (p.Ile625=) c.1770C>A (p.Ile590=) | COSMIC |
| 3 | g.122284312C>G | CA354159620 | CASR | c.2127C>G (p.Ile709Met) c.2388C>G (p.Ile796Met) c.2358C>G (p.Ile786Met) c.1875C>G (p.Ile625Met) c.1770C>G (p.Ile590Met) | COSMIC |
| 3 | g.122284312C>T | CA435425117 | CASR | c.2127C>T (p.Ile709=) c.2388C>T (p.Ile796=) c.2358C>T (p.Ile786=) c.1875C>T (p.Ile625=) c.1770C>T (p.Ile590=) | ClinVar dbSNP |
| 3 | g.122284313T>A | CA354159621 | CASR | c.2128T>A (p.Cys710Ser) c.2389T>A (p.Cys797Ser) c.2359T>A (p.Cys787Ser) c.1876T>A (p.Cys626Ser) c.1771T>A (p.Cys591Ser) | |
| 3 | g.122284313T>C | CA354159622 | CASR | c.2128T>C (p.Cys710Arg) c.2389T>C (p.Cys797Arg) c.2359T>C (p.Cys787Arg) c.1876T>C (p.Cys626Arg) c.1771T>C (p.Cys591Arg) | |
| 3 | g.122284313T>G | CA354159623 | CASR | c.2128T>G (p.Cys710Gly) c.2389T>G (p.Cys797Gly) c.2359T>G (p.Cys787Gly) c.1876T>G (p.Cys626Gly) c.1771T>G (p.Cys591Gly) | |
| 3 | g.122284314G>A | CA354159624 | CASR | c.2129G>A (p.Cys710Tyr) c.2390G>A (p.Cys797Tyr) c.2360G>A (p.Cys787Tyr) c.1877G>A (p.Cys626Tyr) c.1772G>A (p.Cys591Tyr) | ClinVar |
| 3 | g.122284314G>C | CA354159626 | CASR | c.2129G>C (p.Cys710Ser) c.2390G>C (p.Cys797Ser) c.2360G>C (p.Cys787Ser) c.1877G>C (p.Cys626Ser) c.1772G>C (p.Cys591Ser) | |
| 3 | g.122284314G>T | CA354159625 | CASR | c.2129G>T (p.Cys710Phe) c.2390G>T (p.Cys797Phe) c.2360G>T (p.Cys787Phe) c.1877G>T (p.Cys626Phe) c.1772G>T (p.Cys591Phe) | |
| 3 | g.122284315C>A | CA354159627 | CASR | c.2130C>A (p.Cys710Ter) c.2391C>A (p.Cys797Ter) c.2361C>A (p.Cys787Ter) c.1878C>A (p.Cys626Ter) c.1773C>A (p.Cys591Ter) | |
| 3 | g.122284315C= | CA1397872169 | CASR | c.2130C= (p.Cys710=) c.2391C= (p.Cys797=) c.2361C= (p.Cys787=) c.1878C= (p.Cys626=) c.1773C= (p.Cys591=) | |
| 3 | g.122284315C>G | CA354159628 | CASR | c.2130C>G (p.Cys710Trp) c.2391C>G (p.Cys797Trp) c.2361C>G (p.Cys787Trp) c.1878C>G (p.Cys626Trp) c.1773C>G (p.Cys591Trp) | |
| 3 | g.122284315C>T | CA435425124 | CASR | c.2130C>T (p.Cys710=) c.2391C>T (p.Cys797=) c.2361C>T (p.Cys787=) c.1878C>T (p.Cys626=) c.1773C>T (p.Cys591=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122284321_122284323del | CA2508817364 | CASR | c.2136_2138del (p.Phe713del) c.2397_2399del (p.Phe800del) c.2367_2369del (p.Phe790del) c.1884_1886del (p.Phe629del) c.1779_1781del (p.Phe594del) | |
| 3 | g.122284316T>A | CA354159629 | CASR | c.2131T>A (p.Phe711Ile) c.2392T>A (p.Phe798Ile) c.2362T>A (p.Phe788Ile) c.1879T>A (p.Phe627Ile) c.1774T>A (p.Phe592Ile) | |
| 3 | g.122284316T>C | CA119529 | CASR | c.2131T>C (p.Phe711Leu) c.2392T>C (p.Phe798Leu) c.2362T>C (p.Phe788Leu) c.1879T>C (p.Phe627Leu) c.1774T>C (p.Phe592Leu) | ClinVar dbSNP |
| 3 | g.122284316T>G | CA354159630 | CASR | c.2131T>G (p.Phe711Val) c.2392T>G (p.Phe798Val) c.2362T>G (p.Phe788Val) c.1879T>G (p.Phe627Val) c.1774T>G (p.Phe592Val) | |
| 3 | g.122284316T= | CA1397872174 | CASR | c.2131T= (p.Phe711=) c.2392T= (p.Phe798=) c.2362T= (p.Phe788=) c.1879T= (p.Phe627=) c.1774T= (p.Phe592=) | |
| 3 | g.122284317T>A | CA354159631 | CASR | c.2132T>A (p.Phe711Tyr) c.2393T>A (p.Phe798Tyr) c.2363T>A (p.Phe788Tyr) c.1880T>A (p.Phe627Tyr) c.1775T>A (p.Phe592Tyr) | COSMIC |
| 3 | g.122284317T>C | CA354159632 | CASR | c.2132T>C (p.Phe711Ser) c.2393T>C (p.Phe798Ser) c.2363T>C (p.Phe788Ser) c.1880T>C (p.Phe627Ser) c.1775T>C (p.Phe592Ser) | ClinVar dbSNP |
| 3 | g.122284317T>G | CA119509 | CASR | c.2132T>G (p.Phe711Cys) c.2393T>G (p.Phe798Cys) c.2363T>G (p.Phe788Cys) c.1880T>G (p.Phe627Cys) c.1775T>G (p.Phe592Cys) | ClinVar dbSNP |
| 3 | g.122284317T= | CA1397872183 | CASR | c.2132T= (p.Phe711=) c.2393T= (p.Phe798=) c.2363T= (p.Phe788=) c.1880T= (p.Phe627=) c.1775T= (p.Phe592=) | |
| 3 | g.122284318del | CA2580618220 | CASR | c.2133del (p.Phe712SerfsTer?) c.2394del (p.Phe799SerfsTer?) c.2364del (p.Phe789SerfsTer?) c.1881del (p.Phe628SerfsTer?) c.1776del (p.Phe593SerfsTer?) | |
| 3 | g.122284318C>A | CA354159633 | CASR | c.2133C>A (p.Phe711Leu) c.2394C>A (p.Phe798Leu) c.2364C>A (p.Phe788Leu) c.1881C>A (p.Phe627Leu) c.1776C>A (p.Phe592Leu) | |
| 3 | g.122284318C= | CA1397872186 | CASR | c.2133C= (p.Phe711=) c.2394C= (p.Phe798=) c.2364C= (p.Phe788=) c.1881C= (p.Phe627=) c.1776C= (p.Phe592=) | |
| 3 | g.122284318C>G | CA10602865 | CASR | c.2133C>G (p.Phe711Leu) c.2394C>G (p.Phe798Leu) c.2364C>G (p.Phe788Leu) c.1881C>G (p.Phe627Leu) c.1776C>G (p.Phe592Leu) | ClinVar dbSNP |
| 3 | g.122284318C>T | CA435425128 | CASR | c.2133C>T (p.Phe711=) c.2394C>T (p.Phe798=) c.2364C>T (p.Phe788=) c.1881C>T (p.Phe627=) c.1776C>T (p.Phe592=) | |
| 3 | g.122284319T>A | CA354159634 | CASR | c.2134T>A (p.Phe712Ile) c.2395T>A (p.Phe799Ile) c.2365T>A (p.Phe789Ile) c.1882T>A (p.Phe628Ile) c.1777T>A (p.Phe593Ile) | |
| 3 | g.122284319T>C | CA354159635 | CASR | c.2134T>C (p.Phe712Leu) c.2395T>C (p.Phe799Leu) c.2365T>C (p.Phe789Leu) c.1882T>C (p.Phe628Leu) c.1777T>C (p.Phe593Leu) | |
| 3 | g.122284319T>G | CA354159636 | CASR | c.2134T>G (p.Phe712Val) c.2395T>G (p.Phe799Val) c.2365T>G (p.Phe789Val) c.1882T>G (p.Phe628Val) c.1777T>G (p.Phe593Val) | |
| 3 | g.122284320T>A | CA354159637 | CASR | c.2135T>A (p.Phe712Tyr) c.2396T>A (p.Phe799Tyr) c.2366T>A (p.Phe789Tyr) c.1883T>A (p.Phe628Tyr) c.1778T>A (p.Phe593Tyr) | |
| 3 | g.122284320T>C | CA354159638 | CASR | c.2135T>C (p.Phe712Ser) c.2396T>C (p.Phe799Ser) c.2366T>C (p.Phe789Ser) c.1883T>C (p.Phe628Ser) c.1778T>C (p.Phe593Ser) | ClinVar gnomAD v4 |
| 3 | g.122284320T>G | CA354159639 | CASR | c.2135T>G (p.Phe712Cys) c.2396T>G (p.Phe799Cys) c.2366T>G (p.Phe789Cys) c.1883T>G (p.Phe628Cys) c.1778T>G (p.Phe593Cys) |