| 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.122283906C>A | CA354158121 | CASR | c.1721C>A (p.Ser574Tyr) c.1982C>A (p.Ser661Tyr) c.1952C>A (p.Ser651Tyr) c.1469C>A (p.Ser490Tyr) c.1364C>A (p.Ser455Tyr) | ClinVar dbSNP |
| 3 | g.122283906C= | CA1397871241 | CASR | c.1721C= (p.Ser574=) c.1982C= (p.Ser661=) c.1952C= (p.Ser651=) c.1469C= (p.Ser490=) c.1364C= (p.Ser455=) | |
| 3 | g.122283906C>G | CA354158122 | CASR | c.1721C>G (p.Ser574Cys) c.1982C>G (p.Ser661Cys) c.1952C>G (p.Ser651Cys) c.1469C>G (p.Ser490Cys) c.1364C>G (p.Ser455Cys) | |
| 3 | g.122283906C>T | CA354158124 | CASR | c.1721C>T (p.Ser574Phe) c.1982C>T (p.Ser661Phe) c.1952C>T (p.Ser651Phe) c.1469C>T (p.Ser490Phe) c.1364C>T (p.Ser455Phe) | ClinVar dbSNP |
| 3 | g.122283907C>A | CA435252032 | CASR | c.1722C>A (p.Ser574=) c.1983C>A (p.Ser661=) c.1953C>A (p.Ser651=) c.1470C>A (p.Ser490=) c.1365C>A (p.Ser455=) | |
| 3 | g.122283907C>G | CA435252034 | CASR | c.1722C>G (p.Ser574=) c.1983C>G (p.Ser661=) c.1953C>G (p.Ser651=) c.1470C>G (p.Ser490=) c.1365C>G (p.Ser455=) | |
| 3 | g.122283907C>T | CA435252035 | CASR | c.1722C>T (p.Ser574=) c.1983C>T (p.Ser661=) c.1953C>T (p.Ser651=) c.1470C>T (p.Ser490=) c.1365C>T (p.Ser455=) | |
| 3 | g.122283908T>A | CA354158127 | CASR | c.1723T>A (p.Tyr575Asn) c.1984T>A (p.Tyr662Asn) c.1954T>A (p.Tyr652Asn) c.1471T>A (p.Tyr491Asn) c.1366T>A (p.Tyr456Asn) | |
| 3 | g.122283908T>C | CA354158130 | CASR | c.1723T>C (p.Tyr575His) c.1984T>C (p.Tyr662His) c.1954T>C (p.Tyr652His) c.1471T>C (p.Tyr491His) c.1366T>C (p.Tyr456His) | ClinVar |
| 3 | g.122283908T>G | CA354158131 | CASR | c.1723T>G (p.Tyr575Asp) c.1984T>G (p.Tyr662Asp) c.1954T>G (p.Tyr652Asp) c.1471T>G (p.Tyr491Asp) c.1366T>G (p.Tyr456Asp) | |
| 3 | g.122283909A>C | CA354158134 | CASR | c.1724A>C (p.Tyr575Ser) c.1985A>C (p.Tyr662Ser) c.1955A>C (p.Tyr652Ser) c.1472A>C (p.Tyr491Ser) c.1367A>C (p.Tyr456Ser) | |
| 3 | g.122283909A>G | CA354158136 | CASR | c.1724A>G (p.Tyr575Cys) c.1985A>G (p.Tyr662Cys) c.1955A>G (p.Tyr652Cys) c.1472A>G (p.Tyr491Cys) c.1367A>G (p.Tyr456Cys) | |
| 3 | g.122283909A>T | CA354158138 | CASR | c.1724A>T (p.Tyr575Phe) c.1985A>T (p.Tyr662Phe) c.1955A>T (p.Tyr652Phe) c.1472A>T (p.Tyr491Phe) c.1367A>T (p.Tyr456Phe) | |
| 3 | g.122283910C>A | CA354158140 | CASR | c.1725C>A (p.Tyr575Ter) c.1986C>A (p.Tyr662Ter) c.1956C>A (p.Tyr652Ter) c.1473C>A (p.Tyr491Ter) c.1368C>A (p.Tyr456Ter) | |
| 3 | g.122283910C>G | CA354158142 | CASR | c.1725C>G (p.Tyr575Ter) c.1986C>G (p.Tyr662Ter) c.1956C>G (p.Tyr652Ter) c.1473C>G (p.Tyr491Ter) c.1368C>G (p.Tyr456Ter) | |
| 3 | g.122283910C>T | CA435424817 | CASR | c.1725C>T (p.Tyr575=) c.1986C>T (p.Tyr662=) c.1956C>T (p.Tyr652=) c.1473C>T (p.Tyr491=) c.1368C>T (p.Tyr456=) | gnomAD v4 |
| 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.122283911C>A | CA354158144 | CASR | c.1726C>A (p.Leu576Ile) c.1987C>A (p.Leu663Ile) c.1957C>A (p.Leu653Ile) c.1474C>A (p.Leu492Ile) c.1369C>A (p.Leu457Ile) | |
| 3 | g.122283911C= | CA1397871245 | CASR | c.1726C= (p.Leu576=) c.1987C= (p.Leu663=) c.1957C= (p.Leu653=) c.1474C= (p.Leu492=) c.1369C= (p.Leu457=) | |
| 3 | g.122283911C>G | CA354158148 | CASR | c.1726C>G (p.Leu576Val) c.1987C>G (p.Leu663Val) c.1957C>G (p.Leu653Val) c.1474C>G (p.Leu492Val) c.1369C>G (p.Leu457Val) | |
| 3 | g.122283911C>T | CA354158146 | CASR | c.1726C>T (p.Leu576Phe) c.1987C>T (p.Leu663Phe) c.1957C>T (p.Leu653Phe) c.1474C>T (p.Leu492Phe) c.1369C>T (p.Leu457Phe) | ClinVar dbSNP gnomAD v4 COSMIC |
| 3 | g.122283912T>A | CA354158150 | CASR | c.1727T>A (p.Leu576His) c.1988T>A (p.Leu663His) c.1958T>A (p.Leu653His) c.1475T>A (p.Leu492His) c.1370T>A (p.Leu457His) | |
| 3 | g.122283912T>C | CA354158152 | CASR | c.1727T>C (p.Leu576Pro) c.1988T>C (p.Leu663Pro) c.1958T>C (p.Leu653Pro) c.1475T>C (p.Leu492Pro) c.1370T>C (p.Leu457Pro) | |
| 3 | g.122283912T>G | CA354158154 | CASR | c.1727T>G (p.Leu576Arg) c.1988T>G (p.Leu663Arg) c.1958T>G (p.Leu653Arg) c.1475T>G (p.Leu492Arg) c.1370T>G (p.Leu457Arg) | |
| 3 | g.122283913C>A | CA435424823 | CASR | c.1728C>A (p.Leu576=) c.1989C>A (p.Leu663=) c.1959C>A (p.Leu653=) c.1476C>A (p.Leu492=) c.1371C>A (p.Leu457=) | |
| 3 | g.122283913C= | CA1397871255 | CASR | c.1728C= (p.Leu576=) c.1989C= (p.Leu663=) c.1959C= (p.Leu653=) c.1476C= (p.Leu492=) c.1371C= (p.Leu457=) | |
| 3 | g.122283913C>G | CA435424824 | CASR | c.1728C>G (p.Leu576=) c.1989C>G (p.Leu663=) c.1959C>G (p.Leu653=) c.1476C>G (p.Leu492=) c.1371C>G (p.Leu457=) | |
| 3 | g.122283913C>T | CA2569764 | CASR | c.1728C>T (p.Leu576=) c.1989C>T (p.Leu663=) c.1959C>T (p.Leu653=) c.1476C>T (p.Leu492=) c.1371C>T (p.Leu457=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122283914C>A | CA354158158 | CASR | c.1729C>A (p.Leu577Ile) c.1990C>A (p.Leu664Ile) c.1960C>A (p.Leu654Ile) c.1477C>A (p.Leu493Ile) c.1372C>A (p.Leu458Ile) | |
| 3 | g.122283914C= | CA1397871259 | CASR | c.1729C= (p.Leu577=) c.1990C= (p.Leu664=) c.1960C= (p.Leu654=) c.1477C= (p.Leu493=) c.1372C= (p.Leu458=) | |
| 3 | g.122283914C>G | CA354158159 | CASR | c.1729C>G (p.Leu577Val) c.1990C>G (p.Leu664Val) c.1960C>G (p.Leu654Val) c.1477C>G (p.Leu493Val) c.1372C>G (p.Leu458Val) | gnomAD v4 |
| 3 | g.122283914C>T | CA354158161 | CASR | c.1729C>T (p.Leu577Phe) c.1990C>T (p.Leu664Phe) c.1960C>T (p.Leu654Phe) c.1477C>T (p.Leu493Phe) c.1372C>T (p.Leu458Phe) | ClinVar dbSNP |
| 3 | g.122283915T>A | CA354158164 | CASR | c.1730T>A (p.Leu577His) c.1991T>A (p.Leu664His) c.1961T>A (p.Leu654His) c.1478T>A (p.Leu493His) c.1373T>A (p.Leu458His) | |
| 3 | g.122283915T>C | CA354158166 | CASR | c.1730T>C (p.Leu577Pro) c.1991T>C (p.Leu664Pro) c.1961T>C (p.Leu654Pro) c.1478T>C (p.Leu493Pro) c.1373T>C (p.Leu458Pro) | |
| 3 | g.122283915T>G | CA354158168 | CASR | c.1730T>G (p.Leu577Arg) c.1991T>G (p.Leu664Arg) c.1961T>G (p.Leu654Arg) c.1478T>G (p.Leu493Arg) c.1373T>G (p.Leu458Arg) | |
| 3 | g.122283916C>A | CA2569765 | CASR | c.1731C>A (p.Leu577=) c.1992C>A (p.Leu664=) c.1962C>A (p.Leu654=) c.1479C>A (p.Leu493=) c.1374C>A (p.Leu458=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122283916C= | CA1397871263 | CASR | c.1731C= (p.Leu577=) c.1992C= (p.Leu664=) c.1962C= (p.Leu654=) c.1479C= (p.Leu493=) c.1374C= (p.Leu458=) | |
| 3 | g.122283916C>G | CA435424825 | CASR | c.1731C>G (p.Leu577=) c.1992C>G (p.Leu664=) c.1962C>G (p.Leu654=) c.1479C>G (p.Leu493=) c.1374C>G (p.Leu458=) | |
| 3 | g.122283916C>T | CA82748667 | CASR | c.1731C>T (p.Leu577=) c.1992C>T (p.Leu664=) c.1962C>T (p.Leu654=) c.1479C>T (p.Leu493=) c.1374C>T (p.Leu458=) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 3 | g.122283917C>A | CA354158175 | CASR | c.1732C>A (p.Leu578Ile) c.1993C>A (p.Leu665Ile) c.1963C>A (p.Leu655Ile) c.1480C>A (p.Leu494Ile) c.1375C>A (p.Leu459Ile) | |
| 3 | g.122283917C= | CA1397871271 | CASR | c.1732C= (p.Leu578=) c.1993C= (p.Leu665=) c.1963C= (p.Leu655=) c.1480C= (p.Leu494=) c.1375C= (p.Leu459=) | |
| 3 | g.122283917C>G | CA354158171 | CASR | c.1732C>G (p.Leu578Val) c.1993C>G (p.Leu665Val) c.1963C>G (p.Leu655Val) c.1480C>G (p.Leu494Val) c.1375C>G (p.Leu459Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.122283917C>T | CA354158173 | CASR | c.1732C>T (p.Leu578Phe) c.1993C>T (p.Leu665Phe) c.1963C>T (p.Leu655Phe) c.1480C>T (p.Leu494Phe) c.1375C>T (p.Leu459Phe) | |
| 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) | ClinVar |
| 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) | ClinVar |
| 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 |
| 3 | g.122283931C>T | CA435424859 | CASR | c.1746C>T (p.Leu582=) c.2007C>T (p.Leu669=) c.1977C>T (p.Leu659=) c.1494C>T (p.Leu498=) c.1389C>T (p.Leu463=) | ClinVar dbSNP |
| 3 | g.122283932T>A | CA354158221 | CASR | c.1747T>A (p.Cys583Ser) c.2008T>A (p.Cys670Ser) c.1978T>A (p.Cys660Ser) c.1495T>A (p.Cys499Ser) c.1390T>A (p.Cys464Ser) | |
| 3 | g.122283932T>C | CA354158222 | CASR | c.1747T>C (p.Cys583Arg) c.2008T>C (p.Cys670Arg) c.1978T>C (p.Cys660Arg) c.1495T>C (p.Cys499Arg) c.1390T>C (p.Cys464Arg) | |
| 3 | g.122283932T>G | CA354158223 | CASR | c.1747T>G (p.Cys583Gly) c.2008T>G (p.Cys670Gly) c.1978T>G (p.Cys660Gly) c.1495T>G (p.Cys499Gly) c.1390T>G (p.Cys464Gly) | |
| 3 | g.122283933G>A | CA354158224 | CASR | c.1748G>A (p.Cys583Tyr) c.2009G>A (p.Cys670Tyr) c.1979G>A (p.Cys660Tyr) c.1496G>A (p.Cys499Tyr) c.1391G>A (p.Cys464Tyr) | ClinVar gnomAD v4 |
| 3 | g.122283933G>C | CA354158225 | CASR | c.1748G>C (p.Cys583Ser) c.2009G>C (p.Cys670Ser) c.1979G>C (p.Cys660Ser) c.1496G>C (p.Cys499Ser) c.1391G>C (p.Cys464Ser) | |
| 3 | g.122283933G>T | CA354158226 | CASR | c.1748G>T (p.Cys583Phe) c.2009G>T (p.Cys670Phe) c.1979G>T (p.Cys660Phe) c.1496G>T (p.Cys499Phe) c.1391G>T (p.Cys464Phe) | |
| 3 | g.122283934C>A | CA354158227 | CASR | c.1749C>A (p.Cys583Ter) c.2010C>A (p.Cys670Ter) c.1980C>A (p.Cys660Ter) c.1497C>A (p.Cys499Ter) c.1392C>A (p.Cys464Ter) | |
| 3 | g.122283934C= | CA1397871312 | CASR | c.1749C= (p.Cys583=) c.2010C= (p.Cys670=) c.1980C= (p.Cys660=) c.1497C= (p.Cys499=) c.1392C= (p.Cys464=) | |
| 3 | g.122283934C>G | CA354158228 | CASR | c.1749C>G (p.Cys583Trp) c.2010C>G (p.Cys670Trp) c.1980C>G (p.Cys660Trp) c.1497C>G (p.Cys499Trp) c.1392C>G (p.Cys464Trp) | |
| 3 | g.122283934C>T | CA435424863 | CASR | c.1749C>T (p.Cys583=) c.2010C>T (p.Cys670=) c.1980C>T (p.Cys660=) c.1497C>T (p.Cys499=) c.1392C>T (p.Cys464=) | ClinVar dbSNP |
| 3 | g.122283935T>A | CA354158229 | CASR | c.1750T>A (p.Cys584Ser) c.2011T>A (p.Cys671Ser) c.1981T>A (p.Cys661Ser) c.1498T>A (p.Cys500Ser) c.1393T>A (p.Cys465Ser) | ClinVar dbSNP |
| 3 | g.122283935T>C | CA354158230 | CASR | c.1750T>C (p.Cys584Arg) c.2011T>C (p.Cys671Arg) c.1981T>C (p.Cys661Arg) c.1498T>C (p.Cys500Arg) c.1393T>C (p.Cys465Arg) | |
| 3 | g.122283935T>G | CA354158231 | CASR | c.1750T>G (p.Cys584Gly) c.2011T>G (p.Cys671Gly) c.1981T>G (p.Cys661Gly) c.1498T>G (p.Cys500Gly) c.1393T>G (p.Cys465Gly) | |
| 3 | g.122283936G>A | CA354158232 | CASR | c.1751G>A (p.Cys584Tyr) c.2012G>A (p.Cys671Tyr) c.1982G>A (p.Cys661Tyr) c.1499G>A (p.Cys500Tyr) c.1394G>A (p.Cys465Tyr) | |
| 3 | g.122283936G>C | CA354158233 | CASR | c.1751G>C (p.Cys584Ser) c.2012G>C (p.Cys671Ser) c.1982G>C (p.Cys661Ser) c.1499G>C (p.Cys500Ser) c.1394G>C (p.Cys465Ser) | |
| 3 | g.122283936G>T | CA354158234 | CASR | c.1751G>T (p.Cys584Phe) c.2012G>T (p.Cys671Phe) c.1982G>T (p.Cys661Phe) c.1499G>T (p.Cys500Phe) c.1394G>T (p.Cys465Phe) | |
| 3 | g.122283937C>A | CA354158235 | CASR | c.1752C>A (p.Cys584Ter) c.2013C>A (p.Cys671Ter) c.1983C>A (p.Cys661Ter) c.1500C>A (p.Cys500Ter) c.1395C>A (p.Cys465Ter) | ClinVar dbSNP |
| 3 | g.122283937C= | CA1397871315 | CASR | c.1752C= (p.Cys584=) c.2013C= (p.Cys671=) c.1983C= (p.Cys661=) c.1500C= (p.Cys500=) c.1395C= (p.Cys465=) | |
| 3 | g.122283937C>G | CA354158236 | CASR | c.1752C>G (p.Cys584Trp) c.2013C>G (p.Cys671Trp) c.1983C>G (p.Cys661Trp) c.1500C>G (p.Cys500Trp) c.1395C>G (p.Cys465Trp) | |
| 3 | g.122283937C>T | CA435424869 | CASR | c.1752C>T (p.Cys584=) c.2013C>T (p.Cys671=) c.1983C>T (p.Cys661=) c.1500C>T (p.Cys500=) c.1395C>T (p.Cys465=) | gnomAD v4 |
| 3 | g.122283938T>A | CA354158237 | CASR | c.1753T>A (p.Phe585Ile) c.2014T>A (p.Phe672Ile) c.1984T>A (p.Phe662Ile) c.1501T>A (p.Phe501Ile) c.1396T>A (p.Phe466Ile) | |
| 3 | g.122283938T>C | CA82748682 | CASR | c.1753T>C (p.Phe585Leu) c.2014T>C (p.Phe672Leu) c.1984T>C (p.Phe662Leu) c.1501T>C (p.Phe501Leu) c.1396T>C (p.Phe466Leu) | dbSNP |
| 3 | g.122283938T>G | CA354158238 | CASR | c.1753T>G (p.Phe585Val) c.2014T>G (p.Phe672Val) c.1984T>G (p.Phe662Val) c.1501T>G (p.Phe501Val) c.1396T>G (p.Phe466Val) | ClinVar |
| 3 | g.122283938T= | CA1397871320 | CASR | c.1753T= (p.Phe585=) c.2014T= (p.Phe672=) c.1984T= (p.Phe662=) c.1501T= (p.Phe501=) c.1396T= (p.Phe466=) | |
| 3 | g.122283939T>A | CA354158239 | CASR | c.1754T>A (p.Phe585Tyr) c.2015T>A (p.Phe672Tyr) c.1985T>A (p.Phe662Tyr) c.1502T>A (p.Phe501Tyr) c.1397T>A (p.Phe466Tyr) | |
| 3 | g.122283939T>C | CA354158241 | CASR | c.1754T>C (p.Phe585Ser) c.2015T>C (p.Phe672Ser) c.1985T>C (p.Phe662Ser) c.1502T>C (p.Phe501Ser) c.1397T>C (p.Phe466Ser) | |
| 3 | g.122283939T>G | CA354158240 | CASR | c.1754T>G (p.Phe585Cys) c.2015T>G (p.Phe672Cys) c.1985T>G (p.Phe662Cys) c.1502T>G (p.Phe501Cys) c.1397T>G (p.Phe466Cys) | |
| 3 | g.122283940C>A | CA354158242 | CASR | c.1755C>A (p.Phe585Leu) c.2016C>A (p.Phe672Leu) c.1986C>A (p.Phe662Leu) c.1503C>A (p.Phe501Leu) c.1398C>A (p.Phe466Leu) | |
| 3 | g.122283940C>G | CA354158243 | CASR | c.1755C>G (p.Phe585Leu) c.2016C>G (p.Phe672Leu) c.1986C>G (p.Phe662Leu) c.1503C>G (p.Phe501Leu) c.1398C>G (p.Phe466Leu) | |
| 3 | g.122283940C>T | CA435424874 | CASR | c.1755C>T (p.Phe585=) c.2016C>T (p.Phe672=) c.1986C>T (p.Phe662=) c.1503C>T (p.Phe501=) c.1398C>T (p.Phe466=) | ClinVar |
| 3 | g.122283941T>A | CA354158244 | CASR | c.1756T>A (p.Ser586Thr) c.2017T>A (p.Ser673Thr) c.1987T>A (p.Ser663Thr) c.1504T>A (p.Ser502Thr) c.1399T>A (p.Ser467Thr) | ClinVar dbSNP |
| 3 | g.122283941T>C | CA354158245 | CASR | c.1756T>C (p.Ser586Pro) c.2017T>C (p.Ser673Pro) c.1987T>C (p.Ser663Pro) c.1504T>C (p.Ser502Pro) c.1399T>C (p.Ser467Pro) | |
| 3 | g.122283941T>G | CA354158246 | CASR | c.1756T>G (p.Ser586Ala) c.2017T>G (p.Ser673Ala) c.1987T>G (p.Ser663Ala) c.1504T>G (p.Ser502Ala) c.1399T>G (p.Ser467Ala) | ClinVar |
| 3 | g.122283941T= | CA1397871324 | CASR | c.1756T= (p.Ser586=) c.2017T= (p.Ser673=) c.1987T= (p.Ser663=) c.1504T= (p.Ser502=) c.1399T= (p.Ser467=) | |
| 3 | g.122283942C>A | CA354158247 | CASR | c.1757C>A (p.Ser586Tyr) c.2018C>A (p.Ser673Tyr) c.1988C>A (p.Ser663Tyr) c.1505C>A (p.Ser502Tyr) c.1400C>A (p.Ser467Tyr) | dbSNP |
| 3 | g.122283942C= | CA1397871327 | CASR | c.1757C= (p.Ser586=) c.2018C= (p.Ser673=) c.1988C= (p.Ser663=) c.1505C= (p.Ser502=) c.1400C= (p.Ser467=) | |
| 3 | g.122283942C>G | CA354158248 | CASR | c.1757C>G (p.Ser586Cys) c.2018C>G (p.Ser673Cys) c.1988C>G (p.Ser663Cys) c.1505C>G (p.Ser502Cys) c.1400C>G (p.Ser467Cys) | |
| 3 | g.122283942C>T | CA354158249 | CASR | c.1757C>T (p.Ser586Phe) c.2018C>T (p.Ser673Phe) c.1988C>T (p.Ser663Phe) c.1505C>T (p.Ser502Phe) c.1400C>T (p.Ser467Phe) | |
| 3 | g.122283943C>A | CA435424882 | CASR | c.1758C>A (p.Ser586=) c.2019C>A (p.Ser673=) c.1989C>A (p.Ser663=) c.1506C>A (p.Ser502=) c.1401C>A (p.Ser467=) | |
| 3 | g.122283943C>G | CA435424884 | CASR | c.1758C>G (p.Ser586=) c.2019C>G (p.Ser673=) c.1989C>G (p.Ser663=) c.1506C>G (p.Ser502=) c.1401C>G (p.Ser467=) | |
| 3 | g.122283943C>T | CA435424883 | CASR | c.1758C>T (p.Ser586=) c.2019C>T (p.Ser673=) c.1989C>T (p.Ser663=) c.1506C>T (p.Ser502=) c.1401C>T (p.Ser467=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122283944A>C | CA354158250 | CASR | c.1759A>C (p.Ser587Arg) c.2020A>C (p.Ser674Arg) c.1990A>C (p.Ser664Arg) c.1507A>C (p.Ser503Arg) c.1402A>C (p.Ser468Arg) | |
| 3 | g.122283944A>G | CA354158251 | CASR | c.1759A>G (p.Ser587Gly) c.2020A>G (p.Ser674Gly) c.1990A>G (p.Ser664Gly) c.1507A>G (p.Ser503Gly) c.1402A>G (p.Ser468Gly) | |
| 3 | g.122283944A>T | CA354158252 | CASR | c.1759A>T (p.Ser587Cys) c.2020A>T (p.Ser674Cys) c.1990A>T (p.Ser664Cys) c.1507A>T (p.Ser503Cys) c.1402A>T (p.Ser468Cys) | |
| 3 | g.122283945G>A | CA354158253 | CASR | c.1760G>A (p.Ser587Asn) c.2021G>A (p.Ser674Asn) c.1991G>A (p.Ser664Asn) c.1508G>A (p.Ser503Asn) c.1403G>A (p.Ser468Asn) | |
| 3 | g.122283945G>C | CA354158254 | CASR | c.1760G>C (p.Ser587Thr) c.2021G>C (p.Ser674Thr) c.1991G>C (p.Ser664Thr) c.1508G>C (p.Ser503Thr) c.1403G>C (p.Ser468Thr) | |
| 3 | g.122283945G>T | CA354158255 | CASR | c.1760G>T (p.Ser587Ile) c.2021G>T (p.Ser674Ile) c.1991G>T (p.Ser664Ile) c.1508G>T (p.Ser503Ile) c.1403G>T (p.Ser468Ile) | |
| 3 | g.122283946C>A | CA354158257 | CASR | c.1761C>A (p.Ser587Arg) c.2022C>A (p.Ser674Arg) c.1992C>A (p.Ser664Arg) c.1509C>A (p.Ser503Arg) c.1404C>A (p.Ser468Arg) | gnomAD v4 |
| 3 | g.122283946C>G | CA354158256 | CASR | c.1761C>G (p.Ser587Arg) c.2022C>G (p.Ser674Arg) c.1992C>G (p.Ser664Arg) c.1509C>G (p.Ser503Arg) c.1404C>G (p.Ser468Arg) | |
| 3 | g.122283946C>T | CA435424885 | CASR | c.1761C>T (p.Ser587=) c.2022C>T (p.Ser674=) c.1992C>T (p.Ser664=) c.1509C>T (p.Ser503=) c.1404C>T (p.Ser468=) | |
| 3 | g.122283947T>A | CA354158258 | CASR | c.1762T>A (p.Ser588Thr) c.2023T>A (p.Ser675Thr) c.1993T>A (p.Ser665Thr) c.1510T>A (p.Ser504Thr) c.1405T>A (p.Ser469Thr) | |
| 3 | g.122283947T>C | CA354158259 | CASR | c.1762T>C (p.Ser588Pro) c.2023T>C (p.Ser675Pro) c.1993T>C (p.Ser665Pro) c.1510T>C (p.Ser504Pro) c.1405T>C (p.Ser469Pro) | |
| 3 | g.122283947T>G | CA354158260 | CASR | c.1762T>G (p.Ser588Ala) c.2023T>G (p.Ser675Ala) c.1993T>G (p.Ser665Ala) c.1510T>G (p.Ser504Ala) c.1405T>G (p.Ser469Ala) | |
| 3 | g.122283948C>A | CA354158261 | CASR | c.1763C>A (p.Ser588Tyr) c.2024C>A (p.Ser675Tyr) c.1994C>A (p.Ser665Tyr) c.1511C>A (p.Ser504Tyr) c.1406C>A (p.Ser469Tyr) | |
| 3 | g.122283948C>G | CA354158262 | CASR | c.1763C>G (p.Ser588Cys) c.2024C>G (p.Ser675Cys) c.1994C>G (p.Ser665Cys) c.1511C>G (p.Ser504Cys) c.1406C>G (p.Ser469Cys) | gnomAD v4 |
| 3 | g.122283948C>T | CA354158263 | CASR | c.1763C>T (p.Ser588Phe) c.2024C>T (p.Ser675Phe) c.1994C>T (p.Ser665Phe) c.1511C>T (p.Ser504Phe) c.1406C>T (p.Ser469Phe) | COSMIC |
| 3 | g.122283949C>A | CA435424890 | CASR | c.1764C>A (p.Ser588=) c.2025C>A (p.Ser675=) c.1995C>A (p.Ser665=) c.1512C>A (p.Ser504=) c.1407C>A (p.Ser469=) | ClinVar |
| 3 | g.122283949C>G | CA435424893 | CASR | c.1764C>G (p.Ser588=) c.2025C>G (p.Ser675=) c.1995C>G (p.Ser665=) c.1512C>G (p.Ser504=) c.1407C>G (p.Ser469=) | |
| 3 | g.122283949C>T | CA435424894 | CASR | c.1764C>T (p.Ser588=) c.2025C>T (p.Ser675=) c.1995C>T (p.Ser665=) c.1512C>T (p.Ser504=) c.1407C>T (p.Ser469=) | gnomAD v4 |
| 3 | g.122283950C>A | CA354158264 | CASR | c.1765C>A (p.Leu589Met) c.2026C>A (p.Leu676Met) c.1996C>A (p.Leu666Met) c.1513C>A (p.Leu505Met) c.1408C>A (p.Leu470Met) | |
| 3 | g.122283950C>G | CA354158265 | CASR | c.1765C>G (p.Leu589Val) c.2026C>G (p.Leu676Val) c.1996C>G (p.Leu666Val) c.1513C>G (p.Leu505Val) c.1408C>G (p.Leu470Val) | |
| 3 | g.122283950C>T | CA435424897 | CASR | c.1765C>T (p.Leu589=) c.2026C>T (p.Leu676=) c.1996C>T (p.Leu666=) c.1513C>T (p.Leu505=) c.1408C>T (p.Leu470=) | |
| 3 | g.122283951T>A | CA354158266 | CASR | c.1766T>A (p.Leu589Gln) c.2027T>A (p.Leu676Gln) c.1997T>A (p.Leu666Gln) c.1514T>A (p.Leu505Gln) c.1409T>A (p.Leu470Gln) | |
| 3 | g.122283951T>C | CA354158267 | CASR | c.1766T>C (p.Leu589Pro) c.2027T>C (p.Leu676Pro) c.1997T>C (p.Leu666Pro) c.1514T>C (p.Leu505Pro) c.1409T>C (p.Leu470Pro) | ClinVar dbSNP |
| 3 | g.122283951T>G | CA354158268 | CASR | c.1766T>G (p.Leu589Arg) c.2027T>G (p.Leu676Arg) c.1997T>G (p.Leu666Arg) c.1514T>G (p.Leu505Arg) c.1409T>G (p.Leu470Arg) | |
| 3 | g.122283951dup | CA2586972863 | CASR | c.1766dup (p.Phe590ValfsTer?) c.2027dup (p.Phe677ValfsTer?) c.1997dup (p.Phe667ValfsTer?) c.1514dup (p.Phe506ValfsTer?) c.1409dup (p.Phe471ValfsTer?) | |
| 3 | g.122283952G>A | CA435424903 | CASR | c.1767G>A (p.Leu589=) c.2028G>A (p.Leu676=) c.1998G>A (p.Leu666=) c.1515G>A (p.Leu505=) c.1410G>A (p.Leu470=) | dbSNP |
| 3 | g.122283952G>C | CA435424904 | CASR | c.1767G>C (p.Leu589=) c.2028G>C (p.Leu676=) c.1998G>C (p.Leu666=) c.1515G>C (p.Leu505=) c.1410G>C (p.Leu470=) | ClinVar |
| 3 | g.122283952G= | CA1397871328 | CASR | c.1767G= (p.Leu589=) c.2028G= (p.Leu676=) c.1998G= (p.Leu666=) c.1515G= (p.Leu505=) c.1410G= (p.Leu470=) | |
| 3 | g.122283952G>T | CA435424905 | CASR | c.1767G>T (p.Leu589=) c.2028G>T (p.Leu676=) c.1998G>T (p.Leu666=) c.1515G>T (p.Leu505=) c.1410G>T (p.Leu470=) | |
| 3 | g.122283952_122283955delinsGTTC | CA1397871329 | CASR | c.1767_1770delinsGTTC (p.Leu589=) c.2028_2031delinsGTTC (p.Leu676=) c.1998_2001delinsGTTC (p.Leu666=) c.1515_1518delinsGTTC (p.Leu505=) c.1410_1413delinsGTTC (p.Leu470=) | |
| 3 | g.122283953T>A | CA354158271 | CASR | c.1768T>A (p.Phe590Ile) c.2029T>A (p.Phe677Ile) c.1999T>A (p.Phe667Ile) c.1516T>A (p.Phe506Ile) c.1411T>A (p.Phe471Ile) | |
| 3 | g.122283953T>C | CA354158270 | CASR | c.1768T>C (p.Phe590Leu) c.2029T>C (p.Phe677Leu) c.1999T>C (p.Phe667Leu) c.1516T>C (p.Phe506Leu) c.1411T>C (p.Phe471Leu) | ClinVar dbSNP |
| 3 | g.122283953T>G | CA354158269 | CASR | c.1768T>G (p.Phe590Val) c.2029T>G (p.Phe677Val) c.1999T>G (p.Phe667Val) c.1516T>G (p.Phe506Val) c.1411T>G (p.Phe471Val) | |
| 3 | g.122283953T= | CA1397871335 | CASR | c.1768T= (p.Phe590=) c.2029T= (p.Phe677=) c.1999T= (p.Phe667=) c.1516T= (p.Phe506=) c.1411T= (p.Phe471=) | |
| 3 | g.122283956_122283958del | CA1397871333 | CASR | c.1771_1773del (p.Phe591del) c.2032_2034del (p.Phe678del) c.2002_2004del (p.Phe668del) c.1519_1521del (p.Phe507del) c.1414_1416del (p.Phe472del) | ClinVar dbSNP |
| 3 | g.122283954T>A | CA354158272 | CASR | c.1769T>A (p.Phe590Tyr) c.2030T>A (p.Phe677Tyr) c.2000T>A (p.Phe667Tyr) c.1517T>A (p.Phe506Tyr) c.1412T>A (p.Phe471Tyr) | |
| 3 | g.122283954T>C | CA354158273 | CASR | c.1769T>C (p.Phe590Ser) c.2030T>C (p.Phe677Ser) c.2000T>C (p.Phe667Ser) c.1517T>C (p.Phe506Ser) c.1412T>C (p.Phe471Ser) | ClinVar dbSNP |
| 3 | g.122283954T>G | CA354158274 | CASR | c.1769T>G (p.Phe590Cys) c.2030T>G (p.Phe677Cys) c.2000T>G (p.Phe667Cys) c.1517T>G (p.Phe506Cys) c.1412T>G (p.Phe471Cys) | |
| 3 | g.122283954T= | CA1397871337 | CASR | c.1769T= (p.Phe590=) c.2030T= (p.Phe677=) c.2000T= (p.Phe667=) c.1517T= (p.Phe506=) c.1412T= (p.Phe471=) | |
| 3 | g.122283955C>A | CA354158275 | CASR | c.1770C>A (p.Phe590Leu) c.2031C>A (p.Phe677Leu) c.2001C>A (p.Phe667Leu) c.1518C>A (p.Phe506Leu) c.1413C>A (p.Phe471Leu) | |
| 3 | g.122283955C>G | CA354158276 | CASR | c.1770C>G (p.Phe590Leu) c.2031C>G (p.Phe677Leu) c.2001C>G (p.Phe667Leu) c.1518C>G (p.Phe506Leu) c.1413C>G (p.Phe471Leu) | |
| 3 | g.122283955C>T | CA435424910 | CASR | c.1770C>T (p.Phe590=) c.2031C>T (p.Phe677=) c.2001C>T (p.Phe667=) c.1518C>T (p.Phe506=) c.1413C>T (p.Phe471=) | |
| 3 | g.122283956T>A | CA354158277 | CASR | c.1771T>A (p.Phe591Ile) c.2032T>A (p.Phe678Ile) c.2002T>A (p.Phe668Ile) c.1519T>A (p.Phe507Ile) c.1414T>A (p.Phe472Ile) | |
| 3 | g.122283956T>C | CA354158278 | CASR | c.1771T>C (p.Phe591Leu) c.2032T>C (p.Phe678Leu) c.2002T>C (p.Phe668Leu) c.1519T>C (p.Phe507Leu) c.1414T>C (p.Phe472Leu) | |
| 3 | g.122283956T>G | CA354158279 | CASR | c.1771T>G (p.Phe591Val) c.2032T>G (p.Phe678Val) c.2002T>G (p.Phe668Val) c.1519T>G (p.Phe507Val) c.1414T>G (p.Phe472Val) | |
| 3 | g.122283957T>A | CA354158280 | CASR | c.1772T>A (p.Phe591Tyr) c.2033T>A (p.Phe678Tyr) c.2003T>A (p.Phe668Tyr) c.1520T>A (p.Phe507Tyr) c.1415T>A (p.Phe472Tyr) | |
| 3 | g.122283957T>C | CA354158281 | CASR | c.1772T>C (p.Phe591Ser) c.2033T>C (p.Phe678Ser) c.2003T>C (p.Phe668Ser) c.1520T>C (p.Phe507Ser) c.1415T>C (p.Phe472Ser) | |
| 3 | g.122283957T>G | CA354158282 | CASR | c.1772T>G (p.Phe591Cys) c.2033T>G (p.Phe678Cys) c.2003T>G (p.Phe668Cys) c.1520T>G (p.Phe507Cys) c.1415T>G (p.Phe472Cys) | |
| 3 | g.122283958C>A | CA354158283 | CASR | c.1773C>A (p.Phe591Leu) c.2034C>A (p.Phe678Leu) c.2004C>A (p.Phe668Leu) c.1521C>A (p.Phe507Leu) c.1416C>A (p.Phe472Leu) | |
| 3 | g.122283958C>G | CA354158284 | CASR | c.1773C>G (p.Phe591Leu) c.2034C>G (p.Phe678Leu) c.2004C>G (p.Phe668Leu) c.1521C>G (p.Phe507Leu) c.1416C>G (p.Phe472Leu) | |
| 3 | g.122283958C>T | CA435424916 | CASR | c.1773C>T (p.Phe591=) c.2034C>T (p.Phe678=) c.2004C>T (p.Phe668=) c.1521C>T (p.Phe507=) c.1416C>T (p.Phe472=) | ClinVar dbSNP |
| 3 | g.122283959A= | CA1397871340 | CASR | c.1774A= (p.Ile592=) c.2035A= (p.Ile679=) c.2005A= (p.Ile669=) c.1522A= (p.Ile508=) c.1417A= (p.Ile473=) | |
| 3 | g.122283959A>C | CA354158285 | CASR | c.1774A>C (p.Ile592Leu) c.2035A>C (p.Ile679Leu) c.2005A>C (p.Ile669Leu) c.1522A>C (p.Ile508Leu) c.1417A>C (p.Ile473Leu) | ClinVar dbSNP |
| 3 | g.122283959A>G | CA354158287 | CASR | c.1774A>G (p.Ile592Val) c.2035A>G (p.Ile679Val) c.2005A>G (p.Ile669Val) c.1522A>G (p.Ile508Val) c.1417A>G (p.Ile473Val) | ClinVar dbSNP |
| 3 | g.122283959A>T | CA354158286 | CASR | c.1774A>T (p.Ile592Phe) c.2035A>T (p.Ile679Phe) c.2005A>T (p.Ile669Phe) c.1522A>T (p.Ile508Phe) c.1417A>T (p.Ile473Phe) | |
| 3 | g.122283960T>A | CA354158288 | CASR | c.1775T>A (p.Ile592Asn) c.2036T>A (p.Ile679Asn) c.2006T>A (p.Ile669Asn) c.1523T>A (p.Ile508Asn) c.1418T>A (p.Ile473Asn) | |
| 3 | g.122283960T>C | CA354158289 | CASR | c.1775T>C (p.Ile592Thr) c.2036T>C (p.Ile679Thr) c.2006T>C (p.Ile669Thr) c.1523T>C (p.Ile508Thr) c.1418T>C (p.Ile473Thr) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122283960T>G | CA354158290 | CASR | c.1775T>G (p.Ile592Ser) c.2036T>G (p.Ile679Ser) c.2006T>G (p.Ile669Ser) c.1523T>G (p.Ile508Ser) c.1418T>G (p.Ile473Ser) | |
| 3 | g.122283961C>A | CA435424922 | CASR | c.1776C>A (p.Ile592=) c.2037C>A (p.Ile679=) c.2007C>A (p.Ile669=) c.1524C>A (p.Ile508=) c.1419C>A (p.Ile473=) | |
| 3 | g.122283961C= | CA1397871346 | CASR | c.1776C= (p.Ile592=) c.2037C= (p.Ile679=) c.2007C= (p.Ile669=) c.1524C= (p.Ile508=) c.1419C= (p.Ile473=) | |
| 3 | g.122283961C>G | CA354158291 | CASR | c.1776C>G (p.Ile592Met) c.2037C>G (p.Ile679Met) c.2007C>G (p.Ile669Met) c.1524C>G (p.Ile508Met) c.1419C>G (p.Ile473Met) | |
| 3 | g.122283961C>T | CA82748684 | CASR | c.1776C>T (p.Ile592=) c.2037C>T (p.Ile679=) c.2007C>T (p.Ile669=) c.1524C>T (p.Ile508=) c.1419C>T (p.Ile473=) | ClinVar dbSNP gnomAD v4 COSMIC |
| 3 | g.122283961_122283963delinsCGG | CA1397871349 | CASR | c.1776_1778delinsCGG (p.Ile592=) c.2037_2039delinsCGG (p.Ile679=) c.2007_2009delinsCGG (p.Ile669=) c.1524_1526delinsCGG (p.Ile508=) c.1419_1421delinsCGG (p.Ile473=) | |
| 3 | g.122283962G>A | CA354158292 | CASR | c.1777G>A (p.Gly593Arg) c.2038G>A (p.Gly680Arg) c.2008G>A (p.Gly670Arg) c.1525G>A (p.Gly509Arg) c.1420G>A (p.Gly474Arg) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122283962G>C | CA354158293 | CASR | c.1777G>C (p.Gly593Arg) c.2038G>C (p.Gly680Arg) c.2008G>C (p.Gly670Arg) c.1525G>C (p.Gly509Arg) c.1420G>C (p.Gly474Arg) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122283962G= | CA1397871355 | CASR | c.1777G= (p.Gly593=) c.2038G= (p.Gly680=) c.2008G= (p.Gly670=) c.1525G= (p.Gly509=) c.1420G= (p.Gly474=) | |
| 3 | g.122283962G>T | CA354158294 | CASR | c.1777G>T (p.Gly593Trp) c.2038G>T (p.Gly680Trp) c.2008G>T (p.Gly670Trp) c.1525G>T (p.Gly509Trp) c.1420G>T (p.Gly474Trp) | dbSNP gnomAD v4 COSMIC |
| 3 | g.122283965del | CA2667224149 | CASR | c.1780del (p.Glu594SerfsTer27) c.2041del (p.Glu681SerfsTer27) c.2011del (p.Glu671SerfsTer27) c.1528del (p.Glu510SerfsTer27) c.1423del (p.Glu475SerfsTer27) | gnomAD v4 |
| 3 | g.122283964_122283965del | CA1139658227 | CASR | c.1779_1780del (p.Glu594AlafsTer?) c.2040_2041del (p.Glu681AlafsTer?) c.2010_2011del (p.Glu671AlafsTer?) c.1527_1528del (p.Glu510AlafsTer?) c.1422_1423del (p.Glu475AlafsTer?) | ClinVar dbSNP |
| 3 | g.122283963G>A | CA119497 | CASR | c.1778G>A (p.Gly593Glu) c.2039G>A (p.Gly680Glu) c.2009G>A (p.Gly670Glu) c.1526G>A (p.Gly509Glu) c.1421G>A (p.Gly474Glu) | ClinVar dbSNP |
| 3 | g.122283963G>C | CA354158295 | CASR | c.1778G>C (p.Gly593Ala) c.2039G>C (p.Gly680Ala) c.2009G>C (p.Gly670Ala) c.1526G>C (p.Gly509Ala) c.1421G>C (p.Gly474Ala) | |
| 3 | g.122283963G= | CA1397871358 | CASR | c.1778G= (p.Gly593=) c.2039G= (p.Gly680=) c.2009G= (p.Gly670=) c.1526G= (p.Gly509=) c.1421G= (p.Gly474=) | |
| 3 | g.122283963G>T | CA354158296 | CASR | c.1778G>T (p.Gly593Val) c.2039G>T (p.Gly680Val) c.2009G>T (p.Gly670Val) c.1526G>T (p.Gly509Val) c.1421G>T (p.Gly474Val) | ClinVar dbSNP |
| 3 | g.122283965_122283974del | CA2586972864 | CASR | c.1780_1789del (p.Glu594ThrfsTer24) c.2041_2050del (p.Glu681ThrfsTer24) c.2011_2020del (p.Glu671ThrfsTer24) c.1528_1537del (p.Glu510ThrfsTer24) c.1423_1432del (p.Glu475ThrfsTer24) | |
| 3 | g.122283964G>A | CA435424931 | CASR | c.1779G>A (p.Gly593=) c.2040G>A (p.Gly680=) c.2010G>A (p.Gly670=) c.1527G>A (p.Gly509=) c.1422G>A (p.Gly474=) | ClinVar |
| 3 | g.122283964G>C | CA435424932 | CASR | c.1779G>C (p.Gly593=) c.2040G>C (p.Gly680=) c.2010G>C (p.Gly670=) c.1527G>C (p.Gly509=) c.1422G>C (p.Gly474=) | |
| 3 | g.122283964G>T | CA435424933 | CASR | c.1779G>T (p.Gly593=) c.2040G>T (p.Gly680=) c.2010G>T (p.Gly670=) c.1527G>T (p.Gly509=) c.1422G>T (p.Gly474=) | |
| 3 | g.122283965G>A | CA354158298 | CASR | c.1780G>A (p.Glu594Lys) c.2041G>A (p.Glu681Lys) c.2011G>A (p.Glu671Lys) c.1528G>A (p.Glu510Lys) c.1423G>A (p.Glu475Lys) | gnomAD v4 COSMIC |
| 3 | g.122283965G>C | CA354158299 | CASR | c.1780G>C (p.Glu594Gln) c.2041G>C (p.Glu681Gln) c.2011G>C (p.Glu671Gln) c.1528G>C (p.Glu510Gln) c.1423G>C (p.Glu475Gln) | |
| 3 | g.122283965G>T | CA354158297 | CASR | c.1780G>T (p.Glu594Ter) c.2041G>T (p.Glu681Ter) c.2011G>T (p.Glu671Ter) c.1528G>T (p.Glu510Ter) c.1423G>T (p.Glu475Ter) | gnomAD v4 |
| 3 | g.122283966A= | CA1397871362 | CASR | c.1781A= (p.Glu594=) c.2042A= (p.Glu681=) c.2012A= (p.Glu671=) c.1529A= (p.Glu510=) c.1424A= (p.Glu475=) | |
| 3 | g.122283966A>C | CA354158301 | CASR | c.1781A>C (p.Glu594Ala) c.2042A>C (p.Glu681Ala) c.2012A>C (p.Glu671Ala) c.1529A>C (p.Glu510Ala) c.1424A>C (p.Glu475Ala) | |
| 3 | g.122283966A>G | CA354158300 | CASR | c.1781A>G (p.Glu594Gly) c.2042A>G (p.Glu681Gly) c.2012A>G (p.Glu671Gly) c.1529A>G (p.Glu510Gly) c.1424A>G (p.Glu475Gly) | gnomAD v4 |
| 3 | g.122283966A>T | CA2569767 | CASR | c.1781A>T (p.Glu594Val) c.2042A>T (p.Glu681Val) c.2012A>T (p.Glu671Val) c.1529A>T (p.Glu510Val) c.1424A>T (p.Glu475Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122283967G>A | CA435424940 | CASR | c.1782G>A (p.Glu594=) c.2043G>A (p.Glu681=) c.2013G>A (p.Glu671=) c.1530G>A (p.Glu510=) c.1425G>A (p.Glu475=) | |
| 3 | g.122283967G>C | CA354158302 | CASR | c.1782G>C (p.Glu594Asp) c.2043G>C (p.Glu681Asp) c.2013G>C (p.Glu671Asp) c.1530G>C (p.Glu510Asp) c.1425G>C (p.Glu475Asp) | ClinVar |
| 3 | g.122283967G>T | CA354158303 | CASR | c.1782G>T (p.Glu594Asp) c.2043G>T (p.Glu681Asp) c.2013G>T (p.Glu671Asp) c.1530G>T (p.Glu510Asp) c.1425G>T (p.Glu475Asp) | |
| 3 | g.122283968_122283979del | CA2573052061 | CASR | c.1783_1794del (p.Pro595_Trp598del) c.2044_2055del (p.Pro682_Trp685del) c.2014_2025del (p.Pro672_Trp675del) c.1531_1542del (p.Pro511_Trp514del) c.1426_1437del (p.Pro476_Trp479del) | ClinVar dbSNP |
| 3 | g.122283968C>A | CA213577 | CASR | c.1783C>A (p.Pro595Thr) c.2044C>A (p.Pro682Thr) c.2014C>A (p.Pro672Thr) c.1531C>A (p.Pro511Thr) c.1426C>A (p.Pro476Thr) | ClinVar dbSNP gnomAD v4 COSMIC |
| 3 | g.122283968C= | CA1397871368 | CASR | c.1783C= (p.Pro595=) c.2044C= (p.Pro682=) c.2014C= (p.Pro672=) c.1531C= (p.Pro511=) c.1426C= (p.Pro476=) | |
| 3 | g.122283968C>G | CA354158304 | CASR | c.1783C>G (p.Pro595Ala) c.2044C>G (p.Pro682Ala) c.2014C>G (p.Pro672Ala) c.1531C>G (p.Pro511Ala) c.1426C>G (p.Pro476Ala) | |
| 3 | g.122283968C>T | CA354158305 | CASR | c.1783C>T (p.Pro595Ser) c.2044C>T (p.Pro682Ser) c.2014C>T (p.Pro672Ser) c.1531C>T (p.Pro511Ser) c.1426C>T (p.Pro476Ser) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122283969C>A | CA354158306 | CASR | c.1784C>A (p.Pro595His) c.2045C>A (p.Pro682His) c.2015C>A (p.Pro672His) c.1532C>A (p.Pro511His) c.1427C>A (p.Pro476His) | |
| 3 | g.122283969C>G | CA354158308 | CASR | c.1784C>G (p.Pro595Arg) c.2045C>G (p.Pro682Arg) c.2015C>G (p.Pro672Arg) c.1532C>G (p.Pro511Arg) c.1427C>G (p.Pro476Arg) | ClinVar dbSNP |
| 3 | g.122283969C>T | CA354158307 | CASR | c.1784C>T (p.Pro595Leu) c.2045C>T (p.Pro682Leu) c.2015C>T (p.Pro672Leu) c.1532C>T (p.Pro511Leu) c.1427C>T (p.Pro476Leu) | ClinVar |
| 3 | g.122283970C>A | CA435424947 | CASR | c.1785C>A (p.Pro595=) c.2046C>A (p.Pro682=) c.2016C>A (p.Pro672=) c.1533C>A (p.Pro511=) c.1428C>A (p.Pro476=) | |
| 3 | g.122283970C= | CA1397871375 | CASR | c.1785C= (p.Pro595=) c.2046C= (p.Pro682=) c.2016C= (p.Pro672=) c.1533C= (p.Pro511=) c.1428C= (p.Pro476=) | |
| 3 | g.122283970C>G | CA2569768 | CASR | c.1785C>G (p.Pro595=) c.2046C>G (p.Pro682=) c.2016C>G (p.Pro672=) c.1533C>G (p.Pro511=) c.1428C>G (p.Pro476=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122283970C>T | CA435424948 | CASR | c.1785C>T (p.Pro595=) c.2046C>T (p.Pro682=) c.2016C>T (p.Pro672=) c.1533C>T (p.Pro511=) c.1428C>T (p.Pro476=) | |
| 3 | g.122283971C>A | CA354158309 | CASR | c.1786C>A (p.Gln596Lys) c.2047C>A (p.Gln683Lys) c.2017C>A (p.Gln673Lys) c.1534C>A (p.Gln512Lys) c.1429C>A (p.Gln477Lys) | |
| 3 | g.122283971C>G | CA354158310 | CASR | c.1786C>G (p.Gln596Glu) c.2047C>G (p.Gln683Glu) c.2017C>G (p.Gln673Glu) c.1534C>G (p.Gln512Glu) c.1429C>G (p.Gln477Glu) | |
| 3 | g.122283971C>T | CA354158311 | CASR | c.1786C>T (p.Gln596Ter) c.2047C>T (p.Gln683Ter) c.2017C>T (p.Gln673Ter) c.1534C>T (p.Gln512Ter) c.1429C>T (p.Gln477Ter) | |
| 3 | g.122283972A= | CA1397871382 | CASR | c.1787A= (p.Gln596=) c.2048A= (p.Gln683=) c.2018A= (p.Gln673=) c.1535A= (p.Gln512=) c.1430A= (p.Gln477=) | |
| 3 | g.122283972A>C | CA354158312 | CASR | c.1787A>C (p.Gln596Pro) c.2048A>C (p.Gln683Pro) c.2018A>C (p.Gln673Pro) c.1535A>C (p.Gln512Pro) c.1430A>C (p.Gln477Pro) | |
| 3 | g.122283972A>G | CA354158314 | CASR | c.1787A>G (p.Gln596Arg) c.2048A>G (p.Gln683Arg) c.2018A>G (p.Gln673Arg) c.1535A>G (p.Gln512Arg) c.1430A>G (p.Gln477Arg) | ClinVar dbSNP |
| 3 | g.122283972A>T | CA354158313 | CASR | c.1787A>T (p.Gln596Leu) c.2048A>T (p.Gln683Leu) c.2018A>T (p.Gln673Leu) c.1535A>T (p.Gln512Leu) c.1430A>T (p.Gln477Leu) | |
| 3 | g.122283973G>A | CA435424951 | CASR | c.1788G>A (p.Gln596=) c.2049G>A (p.Gln683=) c.2019G>A (p.Gln673=) c.1536G>A (p.Gln512=) c.1431G>A (p.Gln477=) | ClinVar |
| 3 | g.122283973G>C | CA354158315 | CASR | c.1788G>C (p.Gln596His) c.2049G>C (p.Gln683His) c.2019G>C (p.Gln673His) c.1536G>C (p.Gln512His) c.1431G>C (p.Gln477His) | ClinVar dbSNP |
| 3 | g.122283973G>T | CA354158316 | CASR | c.1788G>T (p.Gln596His) c.2049G>T (p.Gln683His) c.2019G>T (p.Gln673His) c.1536G>T (p.Gln512His) c.1431G>T (p.Gln477His) | |
| 3 | g.122283974G>A | CA354158317 | CASR | c.1789G>A (p.Asp597Asn) c.2050G>A (p.Asp684Asn) c.2020G>A (p.Asp674Asn) c.1537G>A (p.Asp513Asn) c.1432G>A (p.Asp478Asn) | gnomAD v4 |
| 3 | g.122283974G>C | CA354158318 | CASR | c.1789G>C (p.Asp597His) c.2050G>C (p.Asp684His) c.2020G>C (p.Asp674His) c.1537G>C (p.Asp513His) c.1432G>C (p.Asp478His) | |
| 3 | g.122283974G>T | CA354158319 | CASR | c.1789G>T (p.Asp597Tyr) c.2050G>T (p.Asp684Tyr) c.2020G>T (p.Asp674Tyr) c.1537G>T (p.Asp513Tyr) c.1432G>T (p.Asp478Tyr) | |
| 3 | g.122283975A>C | CA354158320 | CASR | c.1790A>C (p.Asp597Ala) c.2051A>C (p.Asp684Ala) c.2021A>C (p.Asp674Ala) c.1538A>C (p.Asp513Ala) c.1433A>C (p.Asp478Ala) | |
| 3 | g.122283975A>G | CA354158321 | CASR | c.1790A>G (p.Asp597Gly) c.2051A>G (p.Asp684Gly) c.2021A>G (p.Asp674Gly) c.1538A>G (p.Asp513Gly) c.1433A>G (p.Asp478Gly) | |
| 3 | g.122283975A>T | CA354158322 | CASR | c.1790A>T (p.Asp597Val) c.2051A>T (p.Asp684Val) c.2021A>T (p.Asp674Val) c.1538A>T (p.Asp513Val) c.1433A>T (p.Asp478Val) | ClinVar dbSNP |
| 3 | g.122283976C>A | CA354158323 | CASR | c.1791C>A (p.Asp597Glu) c.2052C>A (p.Asp684Glu) c.2022C>A (p.Asp674Glu) c.1539C>A (p.Asp513Glu) c.1434C>A (p.Asp478Glu) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122283976C= | CA1397871386 | CASR | c.1791C= (p.Asp597=) c.2052C= (p.Asp684=) c.2022C= (p.Asp674=) c.1539C= (p.Asp513=) c.1434C= (p.Asp478=) | |
| 3 | g.122283976C>G | CA354158324 | CASR | c.1791C>G (p.Asp597Glu) c.2052C>G (p.Asp684Glu) c.2022C>G (p.Asp674Glu) c.1539C>G (p.Asp513Glu) c.1434C>G (p.Asp478Glu) | |
| 3 | g.122283976C>T | CA435424957 | CASR | c.1791C>T (p.Asp597=) c.2052C>T (p.Asp684=) c.2022C>T (p.Asp674=) c.1539C>T (p.Asp513=) c.1434C>T (p.Asp478=) | ClinVar gnomAD v4 |
| 3 | g.122283977T>A | CA354158327 | CASR | c.1792T>A (p.Trp598Arg) c.2053T>A (p.Trp685Arg) c.2023T>A (p.Trp675Arg) c.1540T>A (p.Trp514Arg) c.1435T>A (p.Trp479Arg) | |
| 3 | g.122283977T>C | CA354158326 | CASR | c.1792T>C (p.Trp598Arg) c.2053T>C (p.Trp685Arg) c.2023T>C (p.Trp675Arg) c.1540T>C (p.Trp514Arg) c.1435T>C (p.Trp479Arg) | ClinVar dbSNP |
| 3 | g.122283977T>G | CA354158325 | CASR | c.1792T>G (p.Trp598Gly) c.2053T>G (p.Trp685Gly) c.2023T>G (p.Trp675Gly) c.1540T>G (p.Trp514Gly) c.1435T>G (p.Trp479Gly) | |
| 3 | g.122283978G>A | CA354158328 | CASR | c.1793G>A (p.Trp598Ter) c.2054G>A (p.Trp685Ter) c.2024G>A (p.Trp675Ter) c.1541G>A (p.Trp514Ter) c.1436G>A (p.Trp479Ter) | ClinVar COSMIC |
| 3 | g.122283978G>C | CA354158329 | CASR | c.1793G>C (p.Trp598Ser) c.2054G>C (p.Trp685Ser) c.2024G>C (p.Trp675Ser) c.1541G>C (p.Trp514Ser) c.1436G>C (p.Trp479Ser) | |
| 3 | g.122283978G>T | CA354158330 | CASR | c.1793G>T (p.Trp598Leu) c.2054G>T (p.Trp685Leu) c.2024G>T (p.Trp675Leu) c.1541G>T (p.Trp514Leu) c.1436G>T (p.Trp479Leu) | |
| 3 | g.122283979G>A | CA354158331 | CASR | c.1794G>A (p.Trp598Ter) c.2055G>A (p.Trp685Ter) c.2025G>A (p.Trp675Ter) c.1542G>A (p.Trp514Ter) c.1437G>A (p.Trp479Ter) | |
| 3 | g.122283979G>C | CA354158332 | CASR | c.1794G>C (p.Trp598Cys) c.2055G>C (p.Trp685Cys) c.2025G>C (p.Trp675Cys) c.1542G>C (p.Trp514Cys) c.1437G>C (p.Trp479Cys) | |
| 3 | g.122283979G>T | CA354158333 | CASR | c.1794G>T (p.Trp598Cys) c.2055G>T (p.Trp685Cys) c.2025G>T (p.Trp675Cys) c.1542G>T (p.Trp514Cys) c.1437G>T (p.Trp479Cys) | |
| 3 | g.122283980A= | CA1397871393 | CASR | c.1795A= (p.Thr599=) c.2056A= (p.Thr686=) c.2026A= (p.Thr676=) c.1543A= (p.Thr515=) c.1438A= (p.Thr480=) | |
| 3 | g.122283980A>C | CA354158334 | CASR | c.1795A>C (p.Thr599Pro) c.2056A>C (p.Thr686Pro) c.2026A>C (p.Thr676Pro) c.1543A>C (p.Thr515Pro) c.1438A>C (p.Thr480Pro) | |
| 3 | g.122283980A>G | CA354158335 | CASR | c.1795A>G (p.Thr599Ala) c.2056A>G (p.Thr686Ala) c.2026A>G (p.Thr676Ala) c.1543A>G (p.Thr515Ala) c.1438A>G (p.Thr480Ala) | |
| 3 | g.122283980A>T | CA354158336 | CASR | c.1795A>T (p.Thr599Ser) c.2056A>T (p.Thr686Ser) c.2026A>T (p.Thr676Ser) c.1543A>T (p.Thr515Ser) c.1438A>T (p.Thr480Ser) | ClinVar dbSNP |
| 3 | g.122283981C>A | CA354158337 | CASR | c.1796C>A (p.Thr599Lys) c.2057C>A (p.Thr686Lys) c.2027C>A (p.Thr676Lys) c.1544C>A (p.Thr515Lys) c.1439C>A (p.Thr480Lys) | |
| 3 | g.122283981C= | CA1397871397 | CASR | c.1796C= (p.Thr599=) c.2057C= (p.Thr686=) c.2027C= (p.Thr676=) c.1544C= (p.Thr515=) c.1439C= (p.Thr480=) | |
| 3 | g.122283981C>G | CA2569770 | CASR | c.1796C>G (p.Thr599Arg) c.2057C>G (p.Thr686Arg) c.2027C>G (p.Thr676Arg) c.1544C>G (p.Thr515Arg) c.1439C>G (p.Thr480Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122283981C>T | CA2569769 | CASR | c.1796C>T (p.Thr599Met) c.2057C>T (p.Thr686Met) c.2027C>T (p.Thr676Met) c.1544C>T (p.Thr515Met) c.1439C>T (p.Thr480Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.122283982G>A | CA2569771 | CASR | c.1797G>A (p.Thr599=) c.2058G>A (p.Thr686=) c.2028G>A (p.Thr676=) c.1545G>A (p.Thr515=) c.1440G>A (p.Thr480=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122283982G>C | CA435424967 | CASR | c.1797G>C (p.Thr599=) c.2058G>C (p.Thr686=) c.2028G>C (p.Thr676=) c.1545G>C (p.Thr515=) c.1440G>C (p.Thr480=) | ClinVar |
| 3 | g.122283982G= | CA1397871409 | CASR | c.1797G= (p.Thr599=) c.2058G= (p.Thr686=) c.2028G= (p.Thr676=) c.1545G= (p.Thr515=) c.1440G= (p.Thr480=) | |
| 3 | g.122283982G>T | CA435424966 | CASR | c.1797G>T (p.Thr599=) c.2058G>T (p.Thr686=) c.2028G>T (p.Thr676=) c.1545G>T (p.Thr515=) c.1440G>T (p.Thr480=) | |
| 3 | g.122283983T>A | CA354158340 | CASR | c.1798T>A (p.Cys600Ser) c.2059T>A (p.Cys687Ser) c.2029T>A (p.Cys677Ser) c.1546T>A (p.Cys516Ser) c.1441T>A (p.Cys481Ser) | |
| 3 | g.122283983T>C | CA354158338 | CASR | c.1798T>C (p.Cys600Arg) c.2059T>C (p.Cys687Arg) c.2029T>C (p.Cys677Arg) c.1546T>C (p.Cys516Arg) c.1441T>C (p.Cys481Arg) | |
| 3 | g.122283983T>G | CA354158339 | CASR | c.1798T>G (p.Cys600Gly) c.2059T>G (p.Cys687Gly) c.2029T>G (p.Cys677Gly) c.1546T>G (p.Cys516Gly) c.1441T>G (p.Cys481Gly) | |
| 3 | g.122283983dup | CA2586972865 | CASR | c.1798dup (p.Cys600LeufsTer?) c.2059dup (p.Cys687LeufsTer?) c.2029dup (p.Cys677LeufsTer?) c.1546dup (p.Cys516LeufsTer?) c.1441dup (p.Cys481LeufsTer?) | |
| 3 | g.122283984del | CA2573136458 | CASR | c.1799del (p.Cys600SerfsTer21) c.2060del (p.Cys687SerfsTer21) c.2030del (p.Cys677SerfsTer21) c.1547del (p.Cys516SerfsTer21) c.1442del (p.Cys481SerfsTer21) | ClinVar dbSNP |
| 3 | g.122283984G>A | CA354158341 | CASR | c.1799G>A (p.Cys600Tyr) c.2060G>A (p.Cys687Tyr) c.2030G>A (p.Cys677Tyr) c.1547G>A (p.Cys516Tyr) c.1442G>A (p.Cys481Tyr) | |
| 3 | g.122283984G>C | CA354158342 | CASR | c.1799G>C (p.Cys600Ser) c.2060G>C (p.Cys687Ser) c.2030G>C (p.Cys677Ser) c.1547G>C (p.Cys516Ser) c.1442G>C (p.Cys481Ser) | dbSNP |
| 3 | g.122283984G= | CA1397871415 | CASR | c.1799G= (p.Cys600=) c.2060G= (p.Cys687=) c.2030G= (p.Cys677=) c.1547G= (p.Cys516=) c.1442G= (p.Cys481=) | |
| 3 | g.122283984G>T | CA354158343 | CASR | c.1799G>T (p.Cys600Phe) c.2060G>T (p.Cys687Phe) c.2030G>T (p.Cys677Phe) c.1547G>T (p.Cys516Phe) c.1442G>T (p.Cys481Phe) | |
| 3 | g.122283985C>A | CA354158344 | CASR | c.1800C>A (p.Cys600Ter) c.2061C>A (p.Cys687Ter) c.2031C>A (p.Cys677Ter) c.1548C>A (p.Cys516Ter) c.1443C>A (p.Cys481Ter) | |
| 3 | g.122283985C= | CA1397871417 | CASR | c.1800C= (p.Cys600=) c.2061C= (p.Cys687=) c.2031C= (p.Cys677=) c.1548C= (p.Cys516=) c.1443C= (p.Cys481=) | |
| 3 | g.122283985C>G | CA354158345 | CASR | c.1800C>G (p.Cys600Trp) c.2061C>G (p.Cys687Trp) c.2031C>G (p.Cys677Trp) c.1548C>G (p.Cys516Trp) c.1443C>G (p.Cys481Trp) | |
| 3 | g.122283985C>T | CA82748721 | CASR | c.1800C>T (p.Cys600=) c.2061C>T (p.Cys687=) c.2031C>T (p.Cys677=) c.1548C>T (p.Cys516=) c.1443C>T (p.Cys481=) | ClinVar dbSNP |
| 3 | g.122283986C>A | CA354158346 | CASR | c.1801C>A (p.Arg601Ser) c.2062C>A (p.Arg688Ser) c.2032C>A (p.Arg678Ser) c.1549C>A (p.Arg517Ser) c.1444C>A (p.Arg482Ser) | |
| 3 | g.122283986C= | CA1397871419 | CASR | c.1801C= (p.Arg601=) c.2062C= (p.Arg688=) c.2032C= (p.Arg678=) c.1549C= (p.Arg517=) c.1444C= (p.Arg482=) | |
| 3 | g.122283986C>G | CA354158347 | CASR | c.1801C>G (p.Arg601Gly) c.2062C>G (p.Arg688Gly) c.2032C>G (p.Arg678Gly) c.1549C>G (p.Arg517Gly) c.1444C>G (p.Arg482Gly) | |
| 3 | g.122283986C>T | CA354158348 | CASR | c.1801C>T (p.Arg601Cys) c.2062C>T (p.Arg688Cys) c.2032C>T (p.Arg678Cys) c.1549C>T (p.Arg517Cys) c.1444C>T (p.Arg482Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122283987G>A | CA354158349 | CASR | c.1802G>A (p.Arg601His) c.2063G>A (p.Arg688His) c.2033G>A (p.Arg678His) c.1550G>A (p.Arg517His) c.1445G>A (p.Arg482His) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 3 | g.122283987G>C | CA354158350 | CASR | c.1802G>C (p.Arg601Pro) c.2063G>C (p.Arg688Pro) c.2033G>C (p.Arg678Pro) c.1550G>C (p.Arg517Pro) c.1445G>C (p.Arg482Pro) | |
| 3 | g.122283987G= | CA1397871425 | CASR | c.1802G= (p.Arg601=) c.2063G= (p.Arg688=) c.2033G= (p.Arg678=) c.1550G= (p.Arg517=) c.1445G= (p.Arg482=) | |
| 3 | g.122283987G>T | CA354158351 | CASR | c.1802G>T (p.Arg601Leu) c.2063G>T (p.Arg688Leu) c.2033G>T (p.Arg678Leu) c.1550G>T (p.Arg517Leu) c.1445G>T (p.Arg482Leu) | |
| 3 | g.122283988C>A | CA435424974 | CASR | c.1803C>A (p.Arg601=) c.2064C>A (p.Arg688=) c.2034C>A (p.Arg678=) c.1551C>A (p.Arg517=) c.1446C>A (p.Arg482=) | |
| 3 | g.122283988C= | CA1397871430 | CASR | c.1803C= (p.Arg601=) c.2064C= (p.Arg688=) c.2034C= (p.Arg678=) c.1551C= (p.Arg517=) c.1446C= (p.Arg482=) | |
| 3 | g.122283988C>G | CA435424976 | CASR | c.1803C>G (p.Arg601=) c.2064C>G (p.Arg688=) c.2034C>G (p.Arg678=) c.1551C>G (p.Arg517=) c.1446C>G (p.Arg482=) | |
| 3 | g.122283988C>T | CA82748722 | CASR | c.1803C>T (p.Arg601=) c.2064C>T (p.Arg688=) c.2034C>T (p.Arg678=) c.1551C>T (p.Arg517=) c.1446C>T (p.Arg482=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122283989C>A | CA354158353 | CASR | c.1804C>A (p.Leu602Met) c.2065C>A (p.Leu689Met) c.2035C>A (p.Leu679Met) c.1552C>A (p.Leu518Met) c.1447C>A (p.Leu483Met) | COSMIC |
| 3 | g.122283989C>G | CA354158352 | CASR | c.1804C>G (p.Leu602Val) c.2065C>G (p.Leu689Val) c.2035C>G (p.Leu679Val) c.1552C>G (p.Leu518Val) c.1447C>G (p.Leu483Val) | |
| 3 | g.122283989C>T | CA435424978 | CASR | c.1804C>T (p.Leu602=) c.2065C>T (p.Leu689=) c.2035C>T (p.Leu679=) c.1552C>T (p.Leu518=) c.1447C>T (p.Leu483=) | |
| 3 | g.122283990T>A | CA354158354 | CASR | c.1805T>A (p.Leu602Gln) c.2066T>A (p.Leu689Gln) c.2036T>A (p.Leu679Gln) c.1553T>A (p.Leu518Gln) c.1448T>A (p.Leu483Gln) | |
| 3 | g.122283990T>C | CA354158356 | CASR | c.1805T>C (p.Leu602Pro) c.2066T>C (p.Leu689Pro) c.2036T>C (p.Leu679Pro) c.1553T>C (p.Leu518Pro) c.1448T>C (p.Leu483Pro) | ClinVar dbSNP |
| 3 | g.122283990T>G | CA354158355 | CASR | c.1805T>G (p.Leu602Arg) c.2066T>G (p.Leu689Arg) c.2036T>G (p.Leu679Arg) c.1553T>G (p.Leu518Arg) c.1448T>G (p.Leu483Arg) | ClinVar dbSNP |
| 3 | g.122283990T= | CA1397871434 | CASR | c.1805T= (p.Leu602=) c.2066T= (p.Leu689=) c.2036T= (p.Leu679=) c.1553T= (p.Leu518=) c.1448T= (p.Leu483=) | |
| 3 | g.122283991G>A | CA435424986 | CASR | c.1806G>A (p.Leu602=) c.2067G>A (p.Leu689=) c.2037G>A (p.Leu679=) c.1554G>A (p.Leu518=) c.1449G>A (p.Leu483=) | |
| 3 | g.122283991G>C | CA435424985 | CASR | c.1806G>C (p.Leu602=) c.2067G>C (p.Leu689=) c.2037G>C (p.Leu679=) c.1554G>C (p.Leu518=) c.1449G>C (p.Leu483=) | |
| 3 | g.122283991G>T | CA435424984 | CASR | c.1806G>T (p.Leu602=) c.2067G>T (p.Leu689=) c.2037G>T (p.Leu679=) c.1554G>T (p.Leu518=) c.1449G>T (p.Leu483=) | |
| 3 | g.122283992C>A | CA354158357 | CASR | c.1807C>A (p.Arg603Ser) c.2068C>A (p.Arg690Ser) c.2038C>A (p.Arg680Ser) c.1555C>A (p.Arg519Ser) c.1450C>A (p.Arg484Ser) | |
| 3 | g.122283992C= | CA1397871443 | CASR | c.1807C= (p.Arg603=) c.2068C= (p.Arg690=) c.2038C= (p.Arg680=) c.1555C= (p.Arg519=) c.1450C= (p.Arg484=) | |
| 3 | g.122283992C>G | CA354158358 | CASR | c.1807C>G (p.Arg603Gly) c.2068C>G (p.Arg690Gly) c.2038C>G (p.Arg680Gly) c.1555C>G (p.Arg519Gly) c.1450C>G (p.Arg484Gly) | |
| 3 | g.122283992C>T | CA2569772 | CASR | c.1807C>T (p.Arg603Cys) c.2068C>T (p.Arg690Cys) c.2038C>T (p.Arg680Cys) c.1555C>T (p.Arg519Cys) c.1450C>T (p.Arg484Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122283993G>A | CA2569773 | CASR | c.1808G>A (p.Arg603His) c.2069G>A (p.Arg690His) c.2039G>A (p.Arg680His) c.1556G>A (p.Arg519His) c.1451G>A (p.Arg484His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.122283993G>C | CA354158359 | CASR | c.1808G>C (p.Arg603Pro) c.2069G>C (p.Arg690Pro) c.2039G>C (p.Arg680Pro) c.1556G>C (p.Arg519Pro) c.1451G>C (p.Arg484Pro) | |
| 3 | g.122283993G= | CA1397871447 | CASR | c.1808G= (p.Arg603=) c.2069G= (p.Arg690=) c.2039G= (p.Arg680=) c.1556G= (p.Arg519=) c.1451G= (p.Arg484=) | |
| 3 | g.122283993G>T | CA354158360 | CASR | c.1808G>T (p.Arg603Leu) c.2069G>T (p.Arg690Leu) c.2039G>T (p.Arg680Leu) c.1556G>T (p.Arg519Leu) c.1451G>T (p.Arg484Leu) | |
| 3 | g.122283994C>A | CA435424992 | CASR | c.1809C>A (p.Arg603=) c.2070C>A (p.Arg690=) c.2040C>A (p.Arg680=) c.1557C>A (p.Arg519=) c.1452C>A (p.Arg484=) | |
| 3 | g.122283994C>G | CA435424993 | CASR | c.1809C>G (p.Arg603=) c.2070C>G (p.Arg690=) c.2040C>G (p.Arg680=) c.1557C>G (p.Arg519=) c.1452C>G (p.Arg484=) | |
| 3 | g.122283994C>T | CA435424994 | CASR | c.1809C>T (p.Arg603=) c.2070C>T (p.Arg690=) c.2040C>T (p.Arg680=) c.1557C>T (p.Arg519=) c.1452C>T (p.Arg484=) | |
| 3 | g.122283995C>A | CA354158361 | CASR | c.1810C>A (p.Gln604Lys) c.2071C>A (p.Gln691Lys) c.2041C>A (p.Gln681Lys) c.1558C>A (p.Gln520Lys) c.1453C>A (p.Gln485Lys) | |
| 3 | g.122283995C>G | CA354158362 | CASR | c.1810C>G (p.Gln604Glu) c.2071C>G (p.Gln691Glu) c.2041C>G (p.Gln681Glu) c.1558C>G (p.Gln520Glu) c.1453C>G (p.Gln485Glu) | |
| 3 | g.122283995C>T | CA354158363 | CASR | c.1810C>T (p.Gln604Ter) c.2071C>T (p.Gln691Ter) c.2041C>T (p.Gln681Ter) c.1558C>T (p.Gln520Ter) c.1453C>T (p.Gln485Ter) | |
| 3 | g.122283996A>C | CA354158364 | CASR | c.1811A>C (p.Gln604Pro) c.2072A>C (p.Gln691Pro) c.2042A>C (p.Gln681Pro) c.1559A>C (p.Gln520Pro) c.1454A>C (p.Gln485Pro) | |
| 3 | g.122283996A>G | CA354158365 | CASR | c.1811A>G (p.Gln604Arg) c.2072A>G (p.Gln691Arg) c.2042A>G (p.Gln681Arg) c.1559A>G (p.Gln520Arg) c.1454A>G (p.Gln485Arg) | ClinVar dbSNP |
| 3 | g.122283996A>T | CA354158366 | CASR | c.1811A>T (p.Gln604Leu) c.2072A>T (p.Gln691Leu) c.2042A>T (p.Gln681Leu) c.1559A>T (p.Gln520Leu) c.1454A>T (p.Gln485Leu) | |
| 3 | g.122283997G>A | CA435424996 | CASR | c.1812G>A (p.Gln604=) c.2073G>A (p.Gln691=) c.2043G>A (p.Gln681=) c.1560G>A (p.Gln520=) c.1455G>A (p.Gln485=) | |
| 3 | g.122283997G>C | CA354158367 | CASR | c.1812G>C (p.Gln604His) c.2073G>C (p.Gln691His) c.2043G>C (p.Gln681His) c.1560G>C (p.Gln520His) c.1455G>C (p.Gln485His) | |
| 3 | g.122283997G= | CA1397871451 | CASR | c.1812G= (p.Gln604=) c.2073G= (p.Gln691=) c.2043G= (p.Gln681=) c.1560G= (p.Gln520=) c.1455G= (p.Gln485=) | |
| 3 | g.122283997G>T | CA119479 | CASR | c.1812G>T (p.Gln604His) c.2073G>T (p.Gln691His) c.2043G>T (p.Gln681His) c.1560G>T (p.Gln520His) c.1455G>T (p.Gln485His) | ClinVar dbSNP |
| 3 | g.122283998C>A | CA354158368 | CASR | c.1813C>A (p.Pro605Thr) c.2074C>A (p.Pro692Thr) c.2044C>A (p.Pro682Thr) c.1561C>A (p.Pro521Thr) c.1456C>A (p.Pro486Thr) | |
| 3 | g.122283998C>G | CA354158369 | CASR | c.1813C>G (p.Pro605Ala) c.2074C>G (p.Pro692Ala) c.2044C>G (p.Pro682Ala) c.1561C>G (p.Pro521Ala) c.1456C>G (p.Pro486Ala) | |
| 3 | g.122283998C>T | CA354158370 | CASR | c.1813C>T (p.Pro605Ser) c.2074C>T (p.Pro692Ser) c.2044C>T (p.Pro682Ser) c.1561C>T (p.Pro521Ser) c.1456C>T (p.Pro486Ser) | gnomAD v4 |
| 3 | g.122283999del | CA2580068643 | CASR | c.1814del (p.Pro605ArgfsTer16) c.2075del (p.Pro692ArgfsTer16) c.2045del (p.Pro682ArgfsTer16) c.1562del (p.Pro521ArgfsTer16) c.1457del (p.Pro486ArgfsTer16) | ClinVar |
| 3 | g.122283999C>A | CA354158371 | CASR | c.1814C>A (p.Pro605Gln) c.2075C>A (p.Pro692Gln) c.2045C>A (p.Pro682Gln) c.1562C>A (p.Pro521Gln) c.1457C>A (p.Pro486Gln) | |
| 3 | g.122283999C= | CA1397871455 | CASR | c.1814C= (p.Pro605=) c.2075C= (p.Pro692=) c.2045C= (p.Pro682=) c.1562C= (p.Pro521=) c.1457C= (p.Pro486=) | |
| 3 | g.122283999C>G | CA354158372 | CASR | c.1814C>G (p.Pro605Arg) c.2075C>G (p.Pro692Arg) c.2045C>G (p.Pro682Arg) c.1562C>G (p.Pro521Arg) c.1457C>G (p.Pro486Arg) | |
| 3 | g.122283999C>T | CA354158373 | CASR | c.1814C>T (p.Pro605Leu) c.2075C>T (p.Pro692Leu) c.2045C>T (p.Pro682Leu) c.1562C>T (p.Pro521Leu) c.1457C>T (p.Pro486Leu) | ClinVar dbSNP gnomAD v4 COSMIC |
| 3 | g.122284000G>A | CA2569774 | CASR | c.1815G>A (p.Pro605=) c.2076G>A (p.Pro692=) c.2046G>A (p.Pro682=) c.1563G>A (p.Pro521=) c.1458G>A (p.Pro486=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122284000G>C | CA435425001 | CASR | c.1815G>C (p.Pro605=) c.2076G>C (p.Pro692=) c.2046G>C (p.Pro682=) c.1563G>C (p.Pro521=) c.1458G>C (p.Pro486=) | |
| 3 | g.122284000G= | CA1397871458 | CASR | c.1815G= (p.Pro605=) c.2076G= (p.Pro692=) c.2046G= (p.Pro682=) c.1563G= (p.Pro521=) c.1458G= (p.Pro486=) | |
| 3 | g.122284000G>T | CA435425002 | CASR | c.1815G>T (p.Pro605=) c.2076G>T (p.Pro692=) c.2046G>T (p.Pro682=) c.1563G>T (p.Pro521=) c.1458G>T (p.Pro486=) | |
| 3 | g.122284000_122284001delinsTT | CA2740094571 | CASR | c.1815_1816delinsTT (p.Ala606Ser) c.2076_2077delinsTT (p.Ala693Ser) c.2046_2047delinsTT (p.Ala683Ser) c.1563_1564delinsTT (p.Ala522Ser) c.1458_1459delinsTT (p.Ala487Ser) | ClinVar |
| 3 | g.122284001G>A | CA354158374 | CASR | c.1816G>A (p.Ala606Thr) c.2077G>A (p.Ala693Thr) c.2047G>A (p.Ala683Thr) c.1564G>A (p.Ala522Thr) c.1459G>A (p.Ala487Thr) | |
| 3 | g.122284001G>C | CA354158375 | CASR | c.1816G>C (p.Ala606Pro) c.2077G>C (p.Ala693Pro) c.2047G>C (p.Ala683Pro) c.1564G>C (p.Ala522Pro) c.1459G>C (p.Ala487Pro) | |
| 3 | g.122284001G>T | CA354158376 | CASR | c.1816G>T (p.Ala606Ser) c.2077G>T (p.Ala693Ser) c.2047G>T (p.Ala683Ser) c.1564G>T (p.Ala522Ser) c.1459G>T (p.Ala487Ser) | |
| 3 | g.122284002C>A | CA354158377 | CASR | c.1817C>A (p.Ala606Asp) c.2078C>A (p.Ala693Asp) c.2048C>A (p.Ala683Asp) c.1565C>A (p.Ala522Asp) c.1460C>A (p.Ala487Asp) | |
| 3 | g.122284002C= | CA1397871461 | CASR | c.1817C= (p.Ala606=) c.2078C= (p.Ala693=) c.2048C= (p.Ala683=) c.1565C= (p.Ala522=) c.1460C= (p.Ala487=) | |
| 3 | g.122284002C>G | CA354158378 | CASR | c.1817C>G (p.Ala606Gly) c.2078C>G (p.Ala693Gly) c.2048C>G (p.Ala683Gly) c.1565C>G (p.Ala522Gly) c.1460C>G (p.Ala487Gly) | |
| 3 | g.122284002C>T | CA354158379 | CASR | c.1817C>T (p.Ala606Val) c.2078C>T (p.Ala693Val) c.2048C>T (p.Ala683Val) c.1565C>T (p.Ala522Val) c.1460C>T (p.Ala487Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 3 | g.122284003C>A | CA435425010 | CASR | c.1818C>A (p.Ala606=) c.2079C>A (p.Ala693=) c.2049C>A (p.Ala683=) c.1566C>A (p.Ala522=) c.1461C>A (p.Ala487=) | ClinVar dbSNP gnomAD v2 |
| 3 | g.122284003C= | CA1397871465 | CASR | c.1818C= (p.Ala606=) c.2079C= (p.Ala693=) c.2049C= (p.Ala683=) c.1566C= (p.Ala522=) c.1461C= (p.Ala487=) | |
| 3 | g.122284003C>G | CA435425011 | CASR | c.1818C>G (p.Ala606=) c.2079C>G (p.Ala693=) c.2049C>G (p.Ala683=) c.1566C>G (p.Ala522=) c.1461C>G (p.Ala487=) | |
| 3 | g.122284003C>T | CA435425012 | CASR | c.1818C>T (p.Ala606=) c.2079C>T (p.Ala693=) c.2049C>T (p.Ala683=) c.1566C>T (p.Ala522=) c.1461C>T (p.Ala487=) | |
| 3 | g.122284004T>A | CA354158382 | CASR | c.1819T>A (p.Phe607Ile) c.2080T>A (p.Phe694Ile) c.2050T>A (p.Phe684Ile) c.1567T>A (p.Phe523Ile) c.1462T>A (p.Phe488Ile) | |
| 3 | g.122284004T>C | CA354158381 | CASR | c.1819T>C (p.Phe607Leu) c.2080T>C (p.Phe694Leu) c.2050T>C (p.Phe684Leu) c.1567T>C (p.Phe523Leu) c.1462T>C (p.Phe488Leu) | |
| 3 | g.122284004T>G | CA354158380 | CASR | c.1819T>G (p.Phe607Val) c.2080T>G (p.Phe694Val) c.2050T>G (p.Phe684Val) c.1567T>G (p.Phe523Val) c.1462T>G (p.Phe488Val) | |
| 3 | g.122284005T>A | CA354158385 | CASR | c.1820T>A (p.Phe607Tyr) c.2081T>A (p.Phe694Tyr) c.2051T>A (p.Phe684Tyr) c.1568T>A (p.Phe523Tyr) c.1463T>A (p.Phe488Tyr) | |
| 3 | g.122284005T>C | CA354158383 | CASR | c.1820T>C (p.Phe607Ser) c.2081T>C (p.Phe694Ser) c.2051T>C (p.Phe684Ser) c.1568T>C (p.Phe523Ser) c.1463T>C (p.Phe488Ser) | |
| 3 | g.122284005T>G | CA354158384 | CASR | c.1820T>G (p.Phe607Cys) c.2081T>G (p.Phe694Cys) c.2051T>G (p.Phe684Cys) c.1568T>G (p.Phe523Cys) c.1463T>G (p.Phe488Cys) | |
| 3 | g.122284006T>A | CA354158386 | CASR | c.1821T>A (p.Phe607Leu) c.2082T>A (p.Phe694Leu) c.2052T>A (p.Phe684Leu) c.1569T>A (p.Phe523Leu) c.1464T>A (p.Phe488Leu) | |
| 3 | g.122284006T>C | CA435425020 | CASR | c.1821T>C (p.Phe607=) c.2082T>C (p.Phe694=) c.2052T>C (p.Phe684=) c.1569T>C (p.Phe523=) c.1464T>C (p.Phe488=) | |
| 3 | g.122284006T>G | CA354158387 | CASR | c.1821T>G (p.Phe607Leu) c.2082T>G (p.Phe694Leu) c.2052T>G (p.Phe684Leu) c.1569T>G (p.Phe523Leu) c.1464T>G (p.Phe488Leu) |