Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) |