| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.122283906_122283920del | CA2586972861 | CASR | c.1721_1735del (p.Ser574_Leu578del) c.1982_1996del (p.Ser661_Leu665del) c.1952_1966del (p.Ser651_Leu655del) c.1469_1483del (p.Ser490_Leu494del) c.1364_1378del (p.Ser455_Leu459del) | |
| 3 | g.122283917_122283919del | CA2586972862 | CASR | c.1732_1734del (p.Leu578del) c.1993_1995del (p.Leu665del) c.1963_1965del (p.Leu655del) c.1480_1482del (p.Leu494del) c.1375_1377del (p.Leu459del) | gnomAD v4 |
| 3 | g.122283918T>A | CA354158177 | CASR | c.1733T>A (p.Leu578His) c.1994T>A (p.Leu665His) c.1964T>A (p.Leu655His) c.1481T>A (p.Leu494His) c.1376T>A (p.Leu459His) | COSMIC |
| 3 | g.122283918T>C | CA354158179 | CASR | c.1733T>C (p.Leu578Pro) c.1994T>C (p.Leu665Pro) c.1964T>C (p.Leu655Pro) c.1481T>C (p.Leu494Pro) c.1376T>C (p.Leu459Pro) | gnomAD v4 |
| 3 | g.122283918T>G | CA354158181 | CASR | c.1733T>G (p.Leu578Arg) c.1994T>G (p.Leu665Arg) c.1964T>G (p.Leu655Arg) c.1481T>G (p.Leu494Arg) c.1376T>G (p.Leu459Arg) | |
| 3 | g.122283919C>A | CA435424830 | CASR | c.1734C>A (p.Leu578=) c.1995C>A (p.Leu665=) c.1965C>A (p.Leu655=) c.1482C>A (p.Leu494=) c.1377C>A (p.Leu459=) | |
| 3 | g.122283919C= | CA1397871276 | CASR | c.1734C= (p.Leu578=) c.1995C= (p.Leu665=) c.1965C= (p.Leu655=) c.1482C= (p.Leu494=) c.1377C= (p.Leu459=) | |
| 3 | g.122283919C>G | CA435424832 | CASR | c.1734C>G (p.Leu578=) c.1995C>G (p.Leu665=) c.1965C>G (p.Leu655=) c.1482C>G (p.Leu494=) c.1377C>G (p.Leu459=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.122283919C>T | CA435424834 | CASR | c.1734C>T (p.Leu578=) c.1995C>T (p.Leu665=) c.1965C>T (p.Leu655=) c.1482C>T (p.Leu494=) c.1377C>T (p.Leu459=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122283920T>A | CA354158183 | CASR | c.1735T>A (p.Phe579Ile) c.1996T>A (p.Phe666Ile) c.1966T>A (p.Phe656Ile) c.1483T>A (p.Phe495Ile) c.1378T>A (p.Phe460Ile) | |
| 3 | g.122283920T>C | CA354158186 | CASR | c.1735T>C (p.Phe579Leu) c.1996T>C (p.Phe666Leu) c.1966T>C (p.Phe656Leu) c.1483T>C (p.Phe495Leu) c.1378T>C (p.Phe460Leu) | |
| 3 | g.122283920T>G | CA354158187 | CASR | c.1735T>G (p.Phe579Val) c.1996T>G (p.Phe666Val) c.1966T>G (p.Phe656Val) c.1483T>G (p.Phe495Val) c.1378T>G (p.Phe460Val) | |
| 3 | g.122283921T>A | CA354158190 | CASR | c.1736T>A (p.Phe579Tyr) c.1997T>A (p.Phe666Tyr) c.1967T>A (p.Phe656Tyr) c.1484T>A (p.Phe495Tyr) c.1379T>A (p.Phe460Tyr) | |
| 3 | g.122283921T>C | CA354158192 | CASR | c.1736T>C (p.Phe579Ser) c.1997T>C (p.Phe666Ser) c.1967T>C (p.Phe656Ser) c.1484T>C (p.Phe495Ser) c.1379T>C (p.Phe460Ser) | |
| 3 | g.122283921T>G | CA354158193 | CASR | c.1736T>G (p.Phe579Cys) c.1997T>G (p.Phe666Cys) c.1967T>G (p.Phe656Cys) c.1484T>G (p.Phe495Cys) c.1379T>G (p.Phe460Cys) | |
| 3 | g.122283922C>A | CA354158196 | CASR | c.1737C>A (p.Phe579Leu) c.1998C>A (p.Phe666Leu) c.1968C>A (p.Phe656Leu) c.1485C>A (p.Phe495Leu) c.1380C>A (p.Phe460Leu) | ClinVar dbSNP |
| 3 | g.122283922C= | CA1397871280 | CASR | c.1737C= (p.Phe579=) c.1998C= (p.Phe666=) c.1968C= (p.Phe656=) c.1485C= (p.Phe495=) c.1380C= (p.Phe460=) | |
| 3 | g.122283922C>G | CA354158198 | CASR | c.1737C>G (p.Phe579Leu) c.1998C>G (p.Phe666Leu) c.1968C>G (p.Phe656Leu) c.1485C>G (p.Phe495Leu) c.1380C>G (p.Phe460Leu) | |
| 3 | g.122283922C>T | CA435424840 | CASR | c.1737C>T (p.Phe579=) c.1998C>T (p.Phe666=) c.1968C>T (p.Phe656=) c.1485C>T (p.Phe495=) c.1380C>T (p.Phe460=) | ClinVar |
| 3 | g.122283923T>A | CA354158201 | CASR | c.1738T>A (p.Ser580Thr) c.1999T>A (p.Ser667Thr) c.1969T>A (p.Ser657Thr) c.1486T>A (p.Ser496Thr) c.1381T>A (p.Ser461Thr) | |
| 3 | g.122283923T>C | CA354158203 | CASR | c.1738T>C (p.Ser580Pro) c.1999T>C (p.Ser667Pro) c.1969T>C (p.Ser657Pro) c.1486T>C (p.Ser496Pro) c.1381T>C (p.Ser461Pro) | |
| 3 | g.122283923T>G | CA354158199 | CASR | c.1738T>G (p.Ser580Ala) c.1999T>G (p.Ser667Ala) c.1969T>G (p.Ser657Ala) c.1486T>G (p.Ser496Ala) c.1381T>G (p.Ser461Ala) | |
| 3 | g.122283923_122283924delinsTC | CA1397871282 | CASR | c.1738_1739delinsTC (p.Ser580=) c.1999_2000delinsTC (p.Ser667=) c.1969_1970delinsTC (p.Ser657=) c.1486_1487delinsTC (p.Ser496=) c.1381_1382delinsTC (p.Ser461=) | |
| 3 | g.122283924C>A | CA354158205 | CASR | c.1739C>A (p.Ser580Tyr) c.2000C>A (p.Ser667Tyr) c.1970C>A (p.Ser657Tyr) c.1487C>A (p.Ser496Tyr) c.1382C>A (p.Ser461Tyr) | |
| 3 | g.122283924C>G | CA354158207 | CASR | c.1739C>G (p.Ser580Cys) c.2000C>G (p.Ser667Cys) c.1970C>G (p.Ser657Cys) c.1487C>G (p.Ser496Cys) c.1382C>G (p.Ser461Cys) | |
| 3 | g.122283924C>T | CA354158209 | CASR | c.1739C>T (p.Ser580Phe) c.2000C>T (p.Ser667Phe) c.1970C>T (p.Ser657Phe) c.1487C>T (p.Ser496Phe) c.1382C>T (p.Ser461Phe) | |
| 3 | g.122283926del | CA658657328 | CASR | c.1741del (p.Leu581CysfsTer?) c.2002del (p.Leu668CysfsTer?) c.1972del (p.Leu658CysfsTer?) c.1489del (p.Leu497CysfsTer?) c.1384del (p.Leu462CysfsTer?) | ClinVar dbSNP |
| 3 | g.122283925C>A | CA435424845 | CASR | c.1740C>A (p.Ser580=) c.2001C>A (p.Ser667=) c.1971C>A (p.Ser657=) c.1488C>A (p.Ser496=) c.1383C>A (p.Ser461=) | |
| 3 | g.122283925C>G | CA435424846 | CASR | c.1740C>G (p.Ser580=) c.2001C>G (p.Ser667=) c.1971C>G (p.Ser657=) c.1488C>G (p.Ser496=) c.1383C>G (p.Ser461=) | |
| 3 | g.122283925C>T | CA435424847 | CASR | c.1740C>T (p.Ser580=) c.2001C>T (p.Ser667=) c.1971C>T (p.Ser657=) c.1488C>T (p.Ser496=) c.1383C>T (p.Ser461=) | |
| 3 | g.122283926C>A | CA82748681 | CASR | c.1741C>A (p.Leu581Met) c.2002C>A (p.Leu668Met) c.1972C>A (p.Leu658Met) c.1489C>A (p.Leu497Met) c.1384C>A (p.Leu462Met) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122283926C= | CA1397871293 | CASR | c.1741C= (p.Leu581=) c.2002C= (p.Leu668=) c.1972C= (p.Leu658=) c.1489C= (p.Leu497=) c.1384C= (p.Leu462=) | |
| 3 | g.122283926C>G | CA354158211 | CASR | c.1741C>G (p.Leu581Val) c.2002C>G (p.Leu668Val) c.1972C>G (p.Leu658Val) c.1489C>G (p.Leu497Val) c.1384C>G (p.Leu462Val) | |
| 3 | g.122283926C>T | CA435424849 | CASR | c.1741C>T (p.Leu581=) c.2002C>T (p.Leu668=) c.1972C>T (p.Leu658=) c.1489C>T (p.Leu497=) c.1384C>T (p.Leu462=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.122283927T>A | CA354158212 | CASR | c.1742T>A (p.Leu581Gln) c.2003T>A (p.Leu668Gln) c.1973T>A (p.Leu658Gln) c.1490T>A (p.Leu497Gln) c.1385T>A (p.Leu462Gln) | |
| 3 | g.122283927T>C | CA354158213 | CASR | c.1742T>C (p.Leu581Pro) c.2003T>C (p.Leu668Pro) c.1973T>C (p.Leu658Pro) c.1490T>C (p.Leu497Pro) c.1385T>C (p.Leu462Pro) | |
| 3 | g.122283927T>G | CA354158214 | CASR | c.1742T>G (p.Leu581Arg) c.2003T>G (p.Leu668Arg) c.1973T>G (p.Leu658Arg) c.1490T>G (p.Leu497Arg) c.1385T>G (p.Leu462Arg) | |
| 3 | g.122283928G>A | CA435424850 | CASR | c.1743G>A (p.Leu581=) c.2004G>A (p.Leu668=) c.1974G>A (p.Leu658=) c.1491G>A (p.Leu497=) c.1386G>A (p.Leu462=) | ClinVar |
| 3 | g.122283928G>C | CA435424851 | CASR | c.1743G>C (p.Leu581=) c.2004G>C (p.Leu668=) c.1974G>C (p.Leu658=) c.1491G>C (p.Leu497=) c.1386G>C (p.Leu462=) | |
| 3 | g.122283928G= | CA1397871299 | CASR | c.1743G= (p.Leu581=) c.2004G= (p.Leu668=) c.1974G= (p.Leu658=) c.1491G= (p.Leu497=) c.1386G= (p.Leu462=) | |
| 3 | g.122283928G>T | CA2569766 | CASR | c.1743G>T (p.Leu581=) c.2004G>T (p.Leu668=) c.1974G>T (p.Leu658=) c.1491G>T (p.Leu497=) c.1386G>T (p.Leu462=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122283929C>A | CA354158215 | CASR | c.1744C>A (p.Leu582Ile) c.2005C>A (p.Leu669Ile) c.1975C>A (p.Leu659Ile) c.1492C>A (p.Leu498Ile) c.1387C>A (p.Leu463Ile) | |
| 3 | g.122283929C>G | CA354158216 | CASR | c.1744C>G (p.Leu582Val) c.2005C>G (p.Leu669Val) c.1975C>G (p.Leu659Val) c.1492C>G (p.Leu498Val) c.1387C>G (p.Leu463Val) | |
| 3 | g.122283929C>T | CA354158217 | CASR | c.1744C>T (p.Leu582Phe) c.2005C>T (p.Leu669Phe) c.1975C>T (p.Leu659Phe) c.1492C>T (p.Leu498Phe) c.1387C>T (p.Leu463Phe) | |
| 3 | g.122283930T>A | CA354158219 | CASR | c.1745T>A (p.Leu582His) c.2006T>A (p.Leu669His) c.1976T>A (p.Leu659His) c.1493T>A (p.Leu498His) c.1388T>A (p.Leu463His) | |
| 3 | g.122283930T>C | CA354158220 | CASR | c.1745T>C (p.Leu582Pro) c.2006T>C (p.Leu669Pro) c.1976T>C (p.Leu659Pro) c.1493T>C (p.Leu498Pro) c.1388T>C (p.Leu463Pro) | gnomAD v4 |
| 3 | g.122283930T>G | CA354158218 | CASR | c.1745T>G (p.Leu582Arg) c.2006T>G (p.Leu669Arg) c.1976T>G (p.Leu659Arg) c.1493T>G (p.Leu498Arg) c.1388T>G (p.Leu463Arg) | |
| 3 | g.122283931C>A | CA435424856 | CASR | c.1746C>A (p.Leu582=) c.2007C>A (p.Leu669=) c.1977C>A (p.Leu659=) c.1494C>A (p.Leu498=) c.1389C>A (p.Leu463=) | |
| 3 | g.122283931C= | CA1397871307 | CASR | c.1746C= (p.Leu582=) c.2007C= (p.Leu669=) c.1977C= (p.Leu659=) c.1494C= (p.Leu498=) c.1389C= (p.Leu463=) | |
| 3 | g.122283931C>G | CA435424858 | CASR | c.1746C>G (p.Leu582=) c.2007C>G (p.Leu669=) c.1977C>G (p.Leu659=) c.1494C>G (p.Leu498=) c.1389C>G (p.Leu463=) | ClinVar dbSNP |