| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.122284104A= | CA1397871704 | CASR | c.1919A= (p.Lys640=) c.2180A= (p.Lys727=) c.2150A= (p.Lys717=) c.1667A= (p.Lys556=) c.1562A= (p.Lys521=) | |
| 3 | g.122284104A>C | CA354158784 | CASR | c.1919A>C (p.Lys640Thr) c.2180A>C (p.Lys727Thr) c.2150A>C (p.Lys717Thr) c.1667A>C (p.Lys556Thr) c.1562A>C (p.Lys521Thr) | |
| 3 | g.122284104A>G | CA354158785 | CASR | c.1919A>G (p.Lys640Arg) c.2180A>G (p.Lys727Arg) c.2150A>G (p.Lys717Arg) c.1667A>G (p.Lys556Arg) c.1562A>G (p.Lys521Arg) | dbSNP |
| 3 | g.122284104A>T | CA354158787 | CASR | c.1919A>T (p.Lys640Met) c.2180A>T (p.Lys727Met) c.2150A>T (p.Lys717Met) c.1667A>T (p.Lys556Met) c.1562A>T (p.Lys521Met) | |
| 3 | g.122284105G>A | CA2569788 | CASR | c.1920G>A (p.Lys640=) c.2181G>A (p.Lys727=) c.2151G>A (p.Lys717=) c.1668G>A (p.Lys556=) c.1563G>A (p.Lys521=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.122284105G>C | CA354158790 | CASR | c.1920G>C (p.Lys640Asn) c.2181G>C (p.Lys727Asn) c.2151G>C (p.Lys717Asn) c.1668G>C (p.Lys556Asn) c.1563G>C (p.Lys521Asn) | ClinVar |
| 3 | g.122284105G= | CA1397871706 | CASR | c.1920G= (p.Lys640=) c.2181G= (p.Lys727=) c.2151G= (p.Lys717=) c.1668G= (p.Lys556=) c.1563G= (p.Lys521=) | |
| 3 | g.122284105G>T | CA354158793 | CASR | c.1920G>T (p.Lys640Asn) c.2181G>T (p.Lys727Asn) c.2151G>T (p.Lys717Asn) c.1668G>T (p.Lys556Asn) c.1563G>T (p.Lys521Asn) | |
| 3 | g.122284106T>A | CA354158800 | CASR | c.1921T>A (p.Trp641Arg) c.2182T>A (p.Trp728Arg) c.2152T>A (p.Trp718Arg) c.1669T>A (p.Trp557Arg) c.1564T>A (p.Trp522Arg) | gnomAD v4 |
| 3 | g.122284106T>C | CA354158798 | CASR | c.1921T>C (p.Trp641Arg) c.2182T>C (p.Trp728Arg) c.2152T>C (p.Trp718Arg) c.1669T>C (p.Trp557Arg) c.1564T>C (p.Trp522Arg) | |
| 3 | g.122284106T>G | CA354158796 | CASR | c.1921T>G (p.Trp641Gly) c.2182T>G (p.Trp728Gly) c.2152T>G (p.Trp718Gly) c.1669T>G (p.Trp557Gly) c.1564T>G (p.Trp522Gly) | gnomAD v4 |
| 3 | g.122284107G>A | CA354158803 | CASR | c.1922G>A (p.Trp641Ter) c.2183G>A (p.Trp728Ter) c.2153G>A (p.Trp718Ter) c.1670G>A (p.Trp557Ter) c.1565G>A (p.Trp522Ter) | |
| 3 | g.122284107G>C | CA354158804 | CASR | c.1922G>C (p.Trp641Ser) c.2183G>C (p.Trp728Ser) c.2153G>C (p.Trp718Ser) c.1670G>C (p.Trp557Ser) c.1565G>C (p.Trp522Ser) | ClinVar |
| 3 | g.122284107G= | CA1397871710 | CASR | c.1922G= (p.Trp641=) c.2183G= (p.Trp728=) c.2153G= (p.Trp718=) c.1670G= (p.Trp557=) c.1565G= (p.Trp522=) | |
| 3 | g.122284107G>T | CA82748772 | CASR | c.1922G>T (p.Trp641Leu) c.2183G>T (p.Trp728Leu) c.2153G>T (p.Trp718Leu) c.1670G>T (p.Trp557Leu) c.1565G>T (p.Trp522Leu) | ClinVar dbSNP |
| 3 | g.122284107_122284108delinsGG | CA1397871712 | CASR | c.1922_1923delinsGG (p.Trp641=) c.2183_2184delinsGG (p.Trp728=) c.2153_2154delinsGG (p.Trp718=) c.1670_1671delinsGG (p.Trp557=) c.1565_1566delinsGG (p.Trp522=) | |
| 3 | g.122284108G>A | CA354158807 | CASR | c.1923G>A (p.Trp641Ter) c.2184G>A (p.Trp728Ter) c.2154G>A (p.Trp718Ter) c.1671G>A (p.Trp557Ter) c.1566G>A (p.Trp522Ter) | ClinVar dbSNP |
| 3 | g.122284108G>C | CA354158811 | CASR | c.1923G>C (p.Trp641Cys) c.2184G>C (p.Trp728Cys) c.2154G>C (p.Trp718Cys) c.1671G>C (p.Trp557Cys) c.1566G>C (p.Trp522Cys) | ClinVar dbSNP |
| 3 | g.122284108G= | CA1397871720 | CASR | c.1923G= (p.Trp641=) c.2184G= (p.Trp728=) c.2154G= (p.Trp718=) c.1671G= (p.Trp557=) c.1566G= (p.Trp522=) | |
| 3 | g.122284108G>T | CA354158813 | CASR | c.1923G>T (p.Trp641Cys) c.2184G>T (p.Trp728Cys) c.2154G>T (p.Trp718Cys) c.1671G>T (p.Trp557Cys) c.1566G>T (p.Trp522Cys) | |
| 3 | g.122284108delinsCC | CA16617818 | CASR | c.1923delinsCC (p.Trp641CysfsTer?) c.2184delinsCC (p.Trp728CysfsTer?) c.2154delinsCC (p.Trp718CysfsTer?) c.1671delinsCC (p.Trp557CysfsTer?) c.1566delinsCC (p.Trp522CysfsTer?) | ClinVar dbSNP |
| 3 | g.122284109T>A | CA354158816 | CASR | c.1924T>A (p.Trp642Arg) c.2185T>A (p.Trp729Arg) c.2155T>A (p.Trp719Arg) c.1672T>A (p.Trp558Arg) c.1567T>A (p.Trp523Arg) | |
| 3 | g.122284109T>C | CA354158819 | CASR | c.1924T>C (p.Trp642Arg) c.2185T>C (p.Trp729Arg) c.2155T>C (p.Trp719Arg) c.1672T>C (p.Trp558Arg) c.1567T>C (p.Trp523Arg) | |
| 3 | g.122284109T>G | CA354158818 | CASR | c.1924T>G (p.Trp642Gly) c.2185T>G (p.Trp729Gly) c.2155T>G (p.Trp719Gly) c.1672T>G (p.Trp558Gly) c.1567T>G (p.Trp523Gly) | |
| 3 | g.122284110G>A | CA354158821 | CASR | c.1925G>A (p.Trp642Ter) c.2186G>A (p.Trp729Ter) c.2156G>A (p.Trp719Ter) c.1673G>A (p.Trp558Ter) c.1568G>A (p.Trp523Ter) | ClinVar dbSNP |
| 3 | g.122284110G>C | CA354158823 | CASR | c.1925G>C (p.Trp642Ser) c.2186G>C (p.Trp729Ser) c.2156G>C (p.Trp719Ser) c.1673G>C (p.Trp558Ser) c.1568G>C (p.Trp523Ser) | ClinVar |
| 3 | g.122284110G>T | CA354158825 | CASR | c.1925G>T (p.Trp642Leu) c.2186G>T (p.Trp729Leu) c.2156G>T (p.Trp719Leu) c.1673G>T (p.Trp558Leu) c.1568G>T (p.Trp523Leu) | gnomAD v4 |
| 3 | g.122284110_122284114dup | CA2586972866 | CASR | c.1925_1929dup (p.Leu644GlyfsTer22) c.2186_2190dup (p.Leu731GlyfsTer22) c.2156_2160dup (p.Leu721GlyfsTer22) c.1673_1677dup (p.Leu560GlyfsTer22) c.1568_1572dup (p.Leu525GlyfsTer22) | |
| 3 | g.122284111G>A | CA354158828 | CASR | c.1926G>A (p.Trp642Ter) c.2187G>A (p.Trp729Ter) c.2157G>A (p.Trp719Ter) c.1674G>A (p.Trp558Ter) c.1569G>A (p.Trp523Ter) | |
| 3 | g.122284111G>C | CA354158829 | CASR | c.1926G>C (p.Trp642Cys) c.2187G>C (p.Trp729Cys) c.2157G>C (p.Trp719Cys) c.1674G>C (p.Trp558Cys) c.1569G>C (p.Trp523Cys) | COSMIC |
| 3 | g.122284111G>T | CA354158830 | CASR | c.1926G>T (p.Trp642Cys) c.2187G>T (p.Trp729Cys) c.2157G>T (p.Trp719Cys) c.1674G>T (p.Trp558Cys) c.1569G>T (p.Trp523Cys) | |
| 3 | g.122284112G>A | CA354158831 | CASR | c.1927G>A (p.Gly643Arg) c.2188G>A (p.Gly730Arg) c.2158G>A (p.Gly720Arg) c.1675G>A (p.Gly559Arg) c.1570G>A (p.Gly524Arg) | ClinVar dbSNP gnomAD v4 COSMIC |
| 3 | g.122284112G>C | CA354158832 | CASR | c.1927G>C (p.Gly643Arg) c.2188G>C (p.Gly730Arg) c.2158G>C (p.Gly720Arg) c.1675G>C (p.Gly559Arg) c.1570G>C (p.Gly524Arg) | |
| 3 | g.122284112G= | CA1397871725 | CASR | c.1927G= (p.Gly643=) c.2188G= (p.Gly730=) c.2158G= (p.Gly720=) c.1675G= (p.Gly559=) c.1570G= (p.Gly524=) | |
| 3 | g.122284112G>T | CA354158833 | CASR | c.1927G>T (p.Gly643Trp) c.2188G>T (p.Gly730Trp) c.2158G>T (p.Gly720Trp) c.1675G>T (p.Gly559Trp) c.1570G>T (p.Gly524Trp) | gnomAD v4 |
| 3 | g.122284113G>A | CA354158835 | CASR | c.1928G>A (p.Gly643Glu) c.2189G>A (p.Gly730Glu) c.2159G>A (p.Gly720Glu) c.1676G>A (p.Gly559Glu) c.1571G>A (p.Gly524Glu) | ClinVar |
| 3 | g.122284113G>C | CA354158837 | CASR | c.1928G>C (p.Gly643Ala) c.2189G>C (p.Gly730Ala) c.2159G>C (p.Gly720Ala) c.1676G>C (p.Gly559Ala) c.1571G>C (p.Gly524Ala) | gnomAD v4 |
| 3 | g.122284113G>T | CA354158839 | CASR | c.1928G>T (p.Gly643Val) c.2189G>T (p.Gly730Val) c.2159G>T (p.Gly720Val) c.1676G>T (p.Gly559Val) c.1571G>T (p.Gly524Val) | |
| 3 | g.122284114G>A | CA435425221 | CASR | c.1929G>A (p.Gly643=) c.2190G>A (p.Gly730=) c.2160G>A (p.Gly720=) c.1677G>A (p.Gly559=) c.1572G>A (p.Gly524=) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 3 | g.122284114G>C | CA435425222 | CASR | c.1929G>C (p.Gly643=) c.2190G>C (p.Gly730=) c.2160G>C (p.Gly720=) c.1677G>C (p.Gly559=) c.1572G>C (p.Gly524=) | |
| 3 | g.122284114G= | CA1397871729 | CASR | c.1929G= (p.Gly643=) c.2190G= (p.Gly730=) c.2160G= (p.Gly720=) c.1677G= (p.Gly559=) c.1572G= (p.Gly524=) | |
| 3 | g.122284114G>T | CA435425223 | CASR | c.1929G>T (p.Gly643=) c.2190G>T (p.Gly730=) c.2160G>T (p.Gly720=) c.1677G>T (p.Gly559=) c.1572G>T (p.Gly524=) | |
| 3 | g.122284115C>A | CA354158841 | CASR | c.1930C>A (p.Leu644Ile) c.2191C>A (p.Leu731Ile) c.2161C>A (p.Leu721Ile) c.1678C>A (p.Leu560Ile) c.1573C>A (p.Leu525Ile) | gnomAD v4 |
| 3 | g.122284115C= | CA1397871732 | CASR | c.1930C= (p.Leu644=) c.2191C= (p.Leu731=) c.2161C= (p.Leu721=) c.1678C= (p.Leu560=) c.1573C= (p.Leu525=) | |
| 3 | g.122284115C>G | CA354158843 | CASR | c.1930C>G (p.Leu644Val) c.2191C>G (p.Leu731Val) c.2161C>G (p.Leu721Val) c.1678C>G (p.Leu560Val) c.1573C>G (p.Leu525Val) | ClinVar |
| 3 | g.122284115C>T | CA82748777 | CASR | c.1930C>T (p.Leu644Phe) c.2191C>T (p.Leu731Phe) c.2161C>T (p.Leu721Phe) c.1678C>T (p.Leu560Phe) c.1573C>T (p.Leu525Phe) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122284116T>A | CA354158845 | CASR | c.1931T>A (p.Leu644His) c.2192T>A (p.Leu731His) c.2162T>A (p.Leu721His) c.1679T>A (p.Leu560His) c.1574T>A (p.Leu525His) | |
| 3 | g.122284116T>C | CA354158847 | CASR | c.1931T>C (p.Leu644Pro) c.2192T>C (p.Leu731Pro) c.2162T>C (p.Leu721Pro) c.1679T>C (p.Leu560Pro) c.1574T>C (p.Leu525Pro) | |
| 3 | g.122284116T>G | CA354158849 | CASR | c.1931T>G (p.Leu644Arg) c.2192T>G (p.Leu731Arg) c.2162T>G (p.Leu721Arg) c.1679T>G (p.Leu560Arg) c.1574T>G (p.Leu525Arg) | |
| 3 | g.122284117C>A | CA435425235 | CASR | c.1932C>A (p.Leu644=) c.2193C>A (p.Leu731=) c.2163C>A (p.Leu721=) c.1680C>A (p.Leu560=) c.1575C>A (p.Leu525=) | |
| 3 | g.122284117C= | CA1397871737 | CASR | c.1932C= (p.Leu644=) c.2193C= (p.Leu731=) c.2163C= (p.Leu721=) c.1680C= (p.Leu560=) c.1575C= (p.Leu525=) | |
| 3 | g.122284117C>G | CA435425234 | CASR | c.1932C>G (p.Leu644=) c.2193C>G (p.Leu731=) c.2163C>G (p.Leu721=) c.1680C>G (p.Leu560=) c.1575C>G (p.Leu525=) | |
| 3 | g.122284117C>T | CA435425233 | CASR | c.1932C>T (p.Leu644=) c.2193C>T (p.Leu731=) c.2163C>T (p.Leu721=) c.1680C>T (p.Leu560=) c.1575C>T (p.Leu525=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.122284117_122284118delinsCA | CA1397871739 | CASR | c.1932_1933delinsCA (p.Leu644=) c.2193_2194delinsCA (p.Leu731=) c.2163_2164delinsCA (p.Leu721=) c.1680_1681delinsCA (p.Leu560=) c.1575_1576delinsCA (p.Leu525=) | |
| 3 | g.122284118A>C | CA354158850 | CASR | c.1933A>C (p.Asn645His) c.2194A>C (p.Asn732His) c.2164A>C (p.Asn722His) c.1681A>C (p.Asn561His) c.1576A>C (p.Asn526His) | |
| 3 | g.122284118A>G | CA354158852 | CASR | c.1933A>G (p.Asn645Asp) c.2194A>G (p.Asn732Asp) c.2164A>G (p.Asn722Asp) c.1681A>G (p.Asn561Asp) c.1576A>G (p.Asn526Asp) | |
| 3 | g.122284118A>T | CA354158854 | CASR | c.1933A>T (p.Asn645Tyr) c.2194A>T (p.Asn732Tyr) c.2164A>T (p.Asn722Tyr) c.1681A>T (p.Asn561Tyr) c.1576A>T (p.Asn526Tyr) | |
| 3 | g.122284119del | CA658822124 | CASR | c.1934del (p.Asn645ThrfsTer19) c.2195del (p.Asn732ThrfsTer19) c.2165del (p.Asn722ThrfsTer19) c.1682del (p.Asn561ThrfsTer19) c.1577del (p.Asn526ThrfsTer19) | ClinVar dbSNP |
| 3 | g.122284119A>C | CA354158856 | CASR | c.1934A>C (p.Asn645Thr) c.2195A>C (p.Asn732Thr) c.2165A>C (p.Asn722Thr) c.1682A>C (p.Asn561Thr) c.1577A>C (p.Asn526Thr) | |
| 3 | g.122284119A>G | CA354158858 | CASR | c.1934A>G (p.Asn645Ser) c.2195A>G (p.Asn732Ser) c.2165A>G (p.Asn722Ser) c.1682A>G (p.Asn561Ser) c.1577A>G (p.Asn526Ser) | |
| 3 | g.122284119A>T | CA354158860 | CASR | c.1934A>T (p.Asn645Ile) c.2195A>T (p.Asn732Ile) c.2165A>T (p.Asn722Ile) c.1682A>T (p.Asn561Ile) c.1577A>T (p.Asn526Ile) | |
| 3 | g.122284120C>A | CA354158861 | CASR | c.1935C>A (p.Asn645Lys) c.2196C>A (p.Asn732Lys) c.2166C>A (p.Asn722Lys) c.1683C>A (p.Asn561Lys) c.1578C>A (p.Asn526Lys) | gnomAD v4 |
| 3 | g.122284120C= | CA1397871745 | CASR | c.1935C= (p.Asn645=) c.2196C= (p.Asn732=) c.2166C= (p.Asn722=) c.1683C= (p.Asn561=) c.1578C= (p.Asn526=) | |
| 3 | g.122284120C>G | CA2569789 | CASR | c.1935C>G (p.Asn645Lys) c.2196C>G (p.Asn732Lys) c.2166C>G (p.Asn722Lys) c.1683C>G (p.Asn561Lys) c.1578C>G (p.Asn526Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122284120C>T | CA435425241 | CASR | c.1935C>T (p.Asn645=) c.2196C>T (p.Asn732=) c.2166C>T (p.Asn722=) c.1683C>T (p.Asn561=) c.1578C>T (p.Asn526=) | ClinVar |
| 3 | g.122284121C>A | CA354158863 | CASR | c.1936C>A (p.Leu646Met) c.2197C>A (p.Leu733Met) c.2167C>A (p.Leu723Met) c.1684C>A (p.Leu562Met) c.1579C>A (p.Leu527Met) | ClinVar COSMIC |
| 3 | g.122284121C>G | CA354158865 | CASR | c.1936C>G (p.Leu646Val) c.2197C>G (p.Leu733Val) c.2167C>G (p.Leu723Val) c.1684C>G (p.Leu562Val) c.1579C>G (p.Leu527Val) | |
| 3 | g.122284121C>T | CA435425243 | CASR | c.1936C>T (p.Leu646=) c.2197C>T (p.Leu733=) c.2167C>T (p.Leu723=) c.1684C>T (p.Leu562=) c.1579C>T (p.Leu527=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122284122T>A | CA354158870 | CASR | c.1937T>A (p.Leu646Gln) c.2198T>A (p.Leu733Gln) c.2168T>A (p.Leu723Gln) c.1685T>A (p.Leu562Gln) c.1580T>A (p.Leu527Gln) | |
| 3 | g.122284122T>C | CA354158867 | CASR | c.1937T>C (p.Leu646Pro) c.2198T>C (p.Leu733Pro) c.2168T>C (p.Leu723Pro) c.1685T>C (p.Leu562Pro) c.1580T>C (p.Leu527Pro) | |
| 3 | g.122284122T>G | CA354158868 | CASR | c.1937T>G (p.Leu646Arg) c.2198T>G (p.Leu733Arg) c.2168T>G (p.Leu723Arg) c.1685T>G (p.Leu562Arg) c.1580T>G (p.Leu527Arg) | ClinVar dbSNP |
| 3 | g.122284123G>A | CA435425244 | CASR | c.1938G>A (p.Leu646=) c.2199G>A (p.Leu733=) c.2169G>A (p.Leu723=) c.1686G>A (p.Leu562=) c.1581G>A (p.Leu527=) | |
| 3 | g.122284123G>C | CA435425248 | CASR | c.1938G>C (p.Leu646=) c.2199G>C (p.Leu733=) c.2169G>C (p.Leu723=) c.1686G>C (p.Leu562=) c.1581G>C (p.Leu527=) | |
| 3 | g.122284123G>T | CA435425246 | CASR | c.1938G>T (p.Leu646=) c.2199G>T (p.Leu733=) c.2169G>T (p.Leu723=) c.1686G>T (p.Leu562=) c.1581G>T (p.Leu527=) | |
| 3 | g.122284124C>A | CA354158872 | CASR | c.1939C>A (p.Gln647Lys) c.2200C>A (p.Gln734Lys) c.2170C>A (p.Gln724Lys) c.1687C>A (p.Gln563Lys) c.1582C>A (p.Gln528Lys) | dbSNP |
| 3 | g.122284124C= | CA1397871748 | CASR | c.1939C= (p.Gln647=) c.2200C= (p.Gln734=) c.2170C= (p.Gln724=) c.1687C= (p.Gln563=) c.1582C= (p.Gln528=) | |
| 3 | g.122284124C>G | CA354158875 | CASR | c.1939C>G (p.Gln647Glu) c.2200C>G (p.Gln734Glu) c.2170C>G (p.Gln724Glu) c.1687C>G (p.Gln563Glu) c.1582C>G (p.Gln528Glu) | |
| 3 | g.122284124C>T | CA354158877 | CASR | c.1939C>T (p.Gln647Ter) c.2200C>T (p.Gln734Ter) c.2170C>T (p.Gln724Ter) c.1687C>T (p.Gln563Ter) c.1582C>T (p.Gln528Ter) | |
| 3 | g.122284125del | CA2740454052 | CASR | c.1940del (p.Gln647ArgfsTer17) c.2201del (p.Gln734ArgfsTer17) c.2171del (p.Gln724ArgfsTer17) c.1688del (p.Gln563ArgfsTer17) c.1583del (p.Gln528ArgfsTer17) | |
| 3 | g.122284125A>C | CA354158879 | CASR | c.1940A>C (p.Gln647Pro) c.2201A>C (p.Gln734Pro) c.2171A>C (p.Gln724Pro) c.1688A>C (p.Gln563Pro) c.1583A>C (p.Gln528Pro) | |
| 3 | g.122284125A>G | CA354158881 | CASR | c.1940A>G (p.Gln647Arg) c.2201A>G (p.Gln734Arg) c.2171A>G (p.Gln724Arg) c.1688A>G (p.Gln563Arg) c.1583A>G (p.Gln528Arg) | |
| 3 | g.122284125A>T | CA354158883 | CASR | c.1940A>T (p.Gln647Leu) c.2201A>T (p.Gln734Leu) c.2171A>T (p.Gln724Leu) c.1688A>T (p.Gln563Leu) c.1583A>T (p.Gln528Leu) | |
| 3 | g.122284126G>A | CA435425250 | CASR | c.1941G>A (p.Gln647=) c.2202G>A (p.Gln734=) c.2172G>A (p.Gln724=) c.1689G>A (p.Gln563=) c.1584G>A (p.Gln528=) | |
| 3 | g.122284126G>C | CA354158885 | CASR | c.1941G>C (p.Gln647His) c.2202G>C (p.Gln734His) c.2172G>C (p.Gln724His) c.1689G>C (p.Gln563His) c.1584G>C (p.Gln528His) | |
| 3 | g.122284126G>T | CA354158887 | CASR | c.1941G>T (p.Gln647His) c.2202G>T (p.Gln734His) c.2172G>T (p.Gln724His) c.1689G>T (p.Gln563His) c.1584G>T (p.Gln528His) | |
| 3 | g.122284127T>A | CA354158888 | CASR | c.1942T>A (p.Phe648Ile) c.2203T>A (p.Phe735Ile) c.2173T>A (p.Phe725Ile) c.1690T>A (p.Phe564Ile) c.1585T>A (p.Phe529Ile) | |
| 3 | g.122284127T>C | CA354158889 | CASR | c.1942T>C (p.Phe648Leu) c.2203T>C (p.Phe735Leu) c.2173T>C (p.Phe725Leu) c.1690T>C (p.Phe564Leu) c.1585T>C (p.Phe529Leu) | |
| 3 | g.122284127T>G | CA354158891 | CASR | c.1942T>G (p.Phe648Val) c.2203T>G (p.Phe735Val) c.2173T>G (p.Phe725Val) c.1690T>G (p.Phe564Val) c.1585T>G (p.Phe529Val) | |
| 3 | g.122284128T>A | CA354158893 | CASR | c.1943T>A (p.Phe648Tyr) c.2204T>A (p.Phe735Tyr) c.2174T>A (p.Phe725Tyr) c.1691T>A (p.Phe564Tyr) c.1586T>A (p.Phe529Tyr) | |
| 3 | g.122284128T>C | CA354158897 | CASR | c.1943T>C (p.Phe648Ser) c.2204T>C (p.Phe735Ser) c.2174T>C (p.Phe725Ser) c.1691T>C (p.Phe564Ser) c.1586T>C (p.Phe529Ser) | |
| 3 | g.122284128T>G | CA354158895 | CASR | c.1943T>G (p.Phe648Cys) c.2204T>G (p.Phe735Cys) c.2174T>G (p.Phe725Cys) c.1691T>G (p.Phe564Cys) c.1586T>G (p.Phe529Cys) | |
| 3 | g.122284129C>A | CA354158898 | CASR | c.1944C>A (p.Phe648Leu) c.2205C>A (p.Phe735Leu) c.2175C>A (p.Phe725Leu) c.1692C>A (p.Phe564Leu) c.1587C>A (p.Phe529Leu) | |
| 3 | g.122284129C= | CA1397871751 | CASR | c.1944C= (p.Phe648=) c.2205C= (p.Phe735=) c.2175C= (p.Phe725=) c.1692C= (p.Phe564=) c.1587C= (p.Phe529=) | |
| 3 | g.122284129C>G | CA354158900 | CASR | c.1944C>G (p.Phe648Leu) c.2205C>G (p.Phe735Leu) c.2175C>G (p.Phe725Leu) c.1692C>G (p.Phe564Leu) c.1587C>G (p.Phe529Leu) | |
| 3 | g.122284129C>T | CA435425256 | CASR | c.1944C>T (p.Phe648=) c.2205C>T (p.Phe735=) c.2175C>T (p.Phe725=) c.1692C>T (p.Phe564=) c.1587C>T (p.Phe529=) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.122284130C>A | CA354158902 | CASR | c.1945C>A (p.Leu649Met) c.2206C>A (p.Leu736Met) c.2176C>A (p.Leu726Met) c.1693C>A (p.Leu565Met) c.1588C>A (p.Leu530Met) | |
| 3 | g.122284130C>G | CA354158904 | CASR | c.1945C>G (p.Leu649Val) c.2206C>G (p.Leu736Val) c.2176C>G (p.Leu726Val) c.1693C>G (p.Leu565Val) c.1588C>G (p.Leu530Val) | |
| 3 | g.122284130C>T | CA435425257 | CASR | c.1945C>T (p.Leu649=) c.2206C>T (p.Leu736=) c.2176C>T (p.Leu726=) c.1693C>T (p.Leu565=) c.1588C>T (p.Leu530=) | |
| 3 | g.122284131T>A | CA354158906 | CASR | c.1946T>A (p.Leu649Gln) c.2207T>A (p.Leu736Gln) c.2177T>A (p.Leu726Gln) c.1694T>A (p.Leu565Gln) c.1589T>A (p.Leu530Gln) | |
| 3 | g.122284131T>C | CA354158908 | CASR | c.1946T>C (p.Leu649Pro) c.2207T>C (p.Leu736Pro) c.2177T>C (p.Leu726Pro) c.1694T>C (p.Leu565Pro) c.1589T>C (p.Leu530Pro) | |
| 3 | g.122284131T>G | CA354158909 | CASR | c.1946T>G (p.Leu649Arg) c.2207T>G (p.Leu736Arg) c.2177T>G (p.Leu726Arg) c.1694T>G (p.Leu565Arg) c.1589T>G (p.Leu530Arg) | |
| 3 | g.122284132G>A | CA435425264 | CASR | c.1947G>A (p.Leu649=) c.2208G>A (p.Leu736=) c.2178G>A (p.Leu726=) c.1695G>A (p.Leu565=) c.1590G>A (p.Leu530=) | gnomAD v4 COSMIC |
| 3 | g.122284132G>C | CA435425266 | CASR | c.1947G>C (p.Leu649=) c.2208G>C (p.Leu736=) c.2178G>C (p.Leu726=) c.1695G>C (p.Leu565=) c.1590G>C (p.Leu530=) | |
| 3 | g.122284132G>T | CA435425265 | CASR | c.1947G>T (p.Leu649=) c.2208G>T (p.Leu736=) c.2178G>T (p.Leu726=) c.1695G>T (p.Leu565=) c.1590G>T (p.Leu530=) | |
| 3 | g.122284133C>A | CA354158913 | CASR | c.1948C>A (p.Leu650Met) c.2209C>A (p.Leu737Met) c.2179C>A (p.Leu727Met) c.1696C>A (p.Leu566Met) c.1591C>A (p.Leu531Met) | |
| 3 | g.122284133C= | CA1397871755 | CASR | c.1948C= (p.Leu650=) c.2209C= (p.Leu737=) c.2179C= (p.Leu727=) c.1696C= (p.Leu566=) c.1591C= (p.Leu531=) | |
| 3 | g.122284133C>G | CA354158911 | CASR | c.1948C>G (p.Leu650Val) c.2209C>G (p.Leu737Val) c.2179C>G (p.Leu727Val) c.1696C>G (p.Leu566Val) c.1591C>G (p.Leu531Val) | |
| 3 | g.122284133C>T | CA435425267 | CASR | c.1948C>T (p.Leu650=) c.2209C>T (p.Leu737=) c.2179C>T (p.Leu727=) c.1696C>T (p.Leu566=) c.1591C>T (p.Leu531=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.122284134T>A | CA119541 | CASR | c.1949T>A (p.Leu650Gln) c.2210T>A (p.Leu737Gln) c.2180T>A (p.Leu727Gln) c.1697T>A (p.Leu566Gln) c.1592T>A (p.Leu531Gln) | ClinVar dbSNP |
| 3 | g.122284134T>C | CA354158915 | CASR | c.1949T>C (p.Leu650Pro) c.2210T>C (p.Leu737Pro) c.2180T>C (p.Leu727Pro) c.1697T>C (p.Leu566Pro) c.1592T>C (p.Leu531Pro) | |
| 3 | g.122284134T>G | CA354158917 | CASR | c.1949T>G (p.Leu650Arg) c.2210T>G (p.Leu737Arg) c.2180T>G (p.Leu727Arg) c.1697T>G (p.Leu566Arg) c.1592T>G (p.Leu531Arg) | |
| 3 | g.122284134T= | CA1397871757 | CASR | c.1949T= (p.Leu650=) c.2210T= (p.Leu737=) c.2180T= (p.Leu727=) c.1697T= (p.Leu566=) c.1592T= (p.Leu531=) | |
| 3 | g.122284135G>A | CA435425270 | CASR | c.1950G>A (p.Leu650=) c.2211G>A (p.Leu737=) c.2181G>A (p.Leu727=) c.1698G>A (p.Leu566=) c.1593G>A (p.Leu531=) | ClinVar gnomAD v4 |
| 3 | g.122284135G>C | CA435425272 | CASR | c.1950G>C (p.Leu650=) c.2211G>C (p.Leu737=) c.2181G>C (p.Leu727=) c.1698G>C (p.Leu566=) c.1593G>C (p.Leu531=) | |
| 3 | g.122284135G>T | CA435425274 | CASR | c.1950G>T (p.Leu650=) c.2211G>T (p.Leu737=) c.2181G>T (p.Leu727=) c.1698G>T (p.Leu566=) c.1593G>T (p.Leu531=) | |
| 3 | g.122284136G>A | CA354158919 | CASR | c.1951G>A (p.Val651Ile) c.2212G>A (p.Val738Ile) c.2182G>A (p.Val728Ile) c.1699G>A (p.Val567Ile) c.1594G>A (p.Val532Ile) | ClinVar dbSNP |
| 3 | g.122284136G>C | CA354158921 | CASR | c.1951G>C (p.Val651Leu) c.2212G>C (p.Val738Leu) c.2182G>C (p.Val728Leu) c.1699G>C (p.Val567Leu) c.1594G>C (p.Val532Leu) | ClinVar dbSNP |
| 3 | g.122284136G= | CA1397871760 | CASR | c.1951G= (p.Val651=) c.2212G= (p.Val738=) c.2182G= (p.Val728=) c.1699G= (p.Val567=) c.1594G= (p.Val532=) | |
| 3 | g.122284136G>T | CA354158923 | CASR | c.1951G>T (p.Val651Phe) c.2212G>T (p.Val738Phe) c.2182G>T (p.Val728Phe) c.1699G>T (p.Val567Phe) c.1594G>T (p.Val532Phe) | ClinVar gnomAD v4 |
| 3 | g.122284137T>A | CA354158925 | CASR | c.1952T>A (p.Val651Asp) c.2213T>A (p.Val738Asp) c.2183T>A (p.Val728Asp) c.1700T>A (p.Val567Asp) c.1595T>A (p.Val532Asp) | |
| 3 | g.122284137T>C | CA354158929 | CASR | c.1952T>C (p.Val651Ala) c.2213T>C (p.Val738Ala) c.2183T>C (p.Val728Ala) c.1700T>C (p.Val567Ala) c.1595T>C (p.Val532Ala) | |
| 3 | g.122284137T>G | CA354158927 | CASR | c.1952T>G (p.Val651Gly) c.2213T>G (p.Val738Gly) c.2183T>G (p.Val728Gly) c.1700T>G (p.Val567Gly) c.1595T>G (p.Val532Gly) | |
| 3 | g.122284138T>A | CA435425276 | CASR | c.1953T>A (p.Val651=) c.2214T>A (p.Val738=) c.2184T>A (p.Val728=) c.1701T>A (p.Val567=) c.1596T>A (p.Val532=) | ClinVar gnomAD v4 |
| 3 | g.122284138T>C | CA435425278 | CASR | c.1953T>C (p.Val651=) c.2214T>C (p.Val738=) c.2184T>C (p.Val728=) c.1701T>C (p.Val567=) c.1596T>C (p.Val532=) | ClinVar dbSNP |
| 3 | g.122284138T>G | CA435425277 | CASR | c.1953T>G (p.Val651=) c.2214T>G (p.Val738=) c.2184T>G (p.Val728=) c.1701T>G (p.Val567=) c.1596T>G (p.Val532=) | ClinVar gnomAD v4 |
| 3 | g.122284138T= | CA1397871762 | CASR | c.1953T= (p.Val651=) c.2214T= (p.Val738=) c.2184T= (p.Val728=) c.1701T= (p.Val567=) c.1596T= (p.Val532=) | |
| 3 | g.122284139T>A | CA354158931 | CASR | c.1954T>A (p.Phe652Ile) c.2215T>A (p.Phe739Ile) c.2185T>A (p.Phe729Ile) c.1702T>A (p.Phe568Ile) c.1597T>A (p.Phe533Ile) | |
| 3 | g.122284139T>C | CA354158933 | CASR | c.1954T>C (p.Phe652Leu) c.2215T>C (p.Phe739Leu) c.2185T>C (p.Phe729Leu) c.1702T>C (p.Phe568Leu) c.1597T>C (p.Phe533Leu) | ClinVar |
| 3 | g.122284139T>G | CA354158935 | CASR | c.1954T>G (p.Phe652Val) c.2215T>G (p.Phe739Val) c.2185T>G (p.Phe729Val) c.1702T>G (p.Phe568Val) c.1597T>G (p.Phe533Val) | |
| 3 | g.122284140T>A | CA354158937 | CASR | c.1955T>A (p.Phe652Tyr) c.2216T>A (p.Phe739Tyr) c.2186T>A (p.Phe729Tyr) c.1703T>A (p.Phe568Tyr) c.1598T>A (p.Phe533Tyr) | |
| 3 | g.122284140T>C | CA354158939 | CASR | c.1955T>C (p.Phe652Ser) c.2216T>C (p.Phe739Ser) c.2186T>C (p.Phe729Ser) c.1703T>C (p.Phe568Ser) c.1598T>C (p.Phe533Ser) | |
| 3 | g.122284140T>G | CA354158941 | CASR | c.1955T>G (p.Phe652Cys) c.2216T>G (p.Phe739Cys) c.2186T>G (p.Phe729Cys) c.1703T>G (p.Phe568Cys) c.1598T>G (p.Phe533Cys) | |
| 3 | g.122284141C>A | CA354158943 | CASR | c.1956C>A (p.Phe652Leu) c.2217C>A (p.Phe739Leu) c.2187C>A (p.Phe729Leu) c.1704C>A (p.Phe568Leu) c.1599C>A (p.Phe533Leu) | |
| 3 | g.122284141C>G | CA354158944 | CASR | c.1956C>G (p.Phe652Leu) c.2217C>G (p.Phe739Leu) c.2187C>G (p.Phe729Leu) c.1704C>G (p.Phe568Leu) c.1599C>G (p.Phe533Leu) | |
| 3 | g.122284141C>T | CA435425283 | CASR | c.1956C>T (p.Phe652=) c.2217C>T (p.Phe739=) c.2187C>T (p.Phe729=) c.1704C>T (p.Phe568=) c.1599C>T (p.Phe533=) | ClinVar |
| 3 | g.122284142C>A | CA354158946 | CASR | c.1957C>A (p.Leu653Ile) c.2218C>A (p.Leu740Ile) c.2188C>A (p.Leu730Ile) c.1705C>A (p.Leu569Ile) c.1600C>A (p.Leu534Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.122284142C= | CA1397871764 | CASR | c.1957C= (p.Leu653=) c.2218C= (p.Leu740=) c.2188C= (p.Leu730=) c.1705C= (p.Leu569=) c.1600C= (p.Leu534=) | |
| 3 | g.122284142C>G | CA354158947 | CASR | c.1957C>G (p.Leu653Val) c.2218C>G (p.Leu740Val) c.2188C>G (p.Leu730Val) c.1705C>G (p.Leu569Val) c.1600C>G (p.Leu534Val) | |
| 3 | g.122284142C>T | CA354158949 | CASR | c.1957C>T (p.Leu653Phe) c.2218C>T (p.Leu740Phe) c.2188C>T (p.Leu730Phe) c.1705C>T (p.Leu569Phe) c.1600C>T (p.Leu534Phe) | ClinVar gnomAD v4 |
| 3 | g.122284143T>A | CA354158951 | CASR | c.1958T>A (p.Leu653His) c.2219T>A (p.Leu740His) c.2189T>A (p.Leu730His) c.1706T>A (p.Leu569His) c.1601T>A (p.Leu534His) | |
| 3 | g.122284143T>C | CA354158956 | CASR | c.1958T>C (p.Leu653Pro) c.2219T>C (p.Leu740Pro) c.2189T>C (p.Leu730Pro) c.1706T>C (p.Leu569Pro) c.1601T>C (p.Leu534Pro) | |
| 3 | g.122284143T>G | CA354158955 | CASR | c.1958T>G (p.Leu653Arg) c.2219T>G (p.Leu740Arg) c.2189T>G (p.Leu730Arg) c.1706T>G (p.Leu569Arg) c.1601T>G (p.Leu534Arg) | |
| 3 | g.122284144C>A | CA435425286 | CASR | c.1959C>A (p.Leu653=) c.2220C>A (p.Leu740=) c.2190C>A (p.Leu730=) c.1707C>A (p.Leu569=) c.1602C>A (p.Leu534=) | COSMIC |
| 3 | g.122284144C= | CA1397871768 | CASR | c.1959C= (p.Leu653=) c.2220C= (p.Leu740=) c.2190C= (p.Leu730=) c.1707C= (p.Leu569=) c.1602C= (p.Leu534=) | |
| 3 | g.122284144C>G | CA435425287 | CASR | c.1959C>G (p.Leu653=) c.2220C>G (p.Leu740=) c.2190C>G (p.Leu730=) c.1707C>G (p.Leu569=) c.1602C>G (p.Leu534=) | ClinVar |
| 3 | g.122284144C>T | CA435425288 | CASR | c.1959C>T (p.Leu653=) c.2220C>T (p.Leu740=) c.2190C>T (p.Leu730=) c.1707C>T (p.Leu569=) c.1602C>T (p.Leu534=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122284145T>A | CA354158959 | CASR | c.1960T>A (p.Cys654Ser) c.2221T>A (p.Cys741Ser) c.2191T>A (p.Cys731Ser) c.1708T>A (p.Cys570Ser) c.1603T>A (p.Cys535Ser) | ClinVar |
| 3 | g.122284145T>C | CA354158960 | CASR | c.1960T>C (p.Cys654Arg) c.2221T>C (p.Cys741Arg) c.2191T>C (p.Cys731Arg) c.1708T>C (p.Cys570Arg) c.1603T>C (p.Cys535Arg) | |
| 3 | g.122284145T>G | CA354158962 | CASR | c.1960T>G (p.Cys654Gly) c.2221T>G (p.Cys741Gly) c.2191T>G (p.Cys731Gly) c.1708T>G (p.Cys570Gly) c.1603T>G (p.Cys535Gly) | |
| 3 | g.122284146G>A | CA354158964 | CASR | c.1961G>A (p.Cys654Tyr) c.2222G>A (p.Cys741Tyr) c.2192G>A (p.Cys731Tyr) c.1709G>A (p.Cys570Tyr) c.1604G>A (p.Cys535Tyr) | |
| 3 | g.122284146G>C | CA354158965 | CASR | c.1961G>C (p.Cys654Ser) c.2222G>C (p.Cys741Ser) c.2192G>C (p.Cys731Ser) c.1709G>C (p.Cys570Ser) c.1604G>C (p.Cys535Ser) | |
| 3 | g.122284146G>T | CA354158967 | CASR | c.1961G>T (p.Cys654Phe) c.2222G>T (p.Cys741Phe) c.2192G>T (p.Cys731Phe) c.1709G>T (p.Cys570Phe) c.1604G>T (p.Cys535Phe) | |
| 3 | g.122284147C>A | CA354158969 | CASR | c.1962C>A (p.Cys654Ter) c.2223C>A (p.Cys741Ter) c.2193C>A (p.Cys731Ter) c.1710C>A (p.Cys570Ter) c.1605C>A (p.Cys535Ter) | |
| 3 | g.122284147C= | CA1397871770 | CASR | c.1962C= (p.Cys654=) c.2223C= (p.Cys741=) c.2193C= (p.Cys731=) c.1710C= (p.Cys570=) c.1605C= (p.Cys535=) | |
| 3 | g.122284147C>G | CA354158970 | CASR | c.1962C>G (p.Cys654Trp) c.2223C>G (p.Cys741Trp) c.2193C>G (p.Cys731Trp) c.1710C>G (p.Cys570Trp) c.1605C>G (p.Cys535Trp) | |
| 3 | g.122284147C>T | CA2569790 | CASR | c.1962C>T (p.Cys654=) c.2223C>T (p.Cys741=) c.2193C>T (p.Cys731=) c.1710C>T (p.Cys570=) c.1605C>T (p.Cys535=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.122284148A= | CA1397871773 | CASR | c.1963A= (p.Thr655=) c.2224A= (p.Thr742=) c.2194A= (p.Thr732=) c.1711A= (p.Thr571=) c.1606A= (p.Thr536=) | |
| 3 | g.122284148A>C | CA354158971 | CASR | c.1963A>C (p.Thr655Pro) c.2224A>C (p.Thr742Pro) c.2194A>C (p.Thr732Pro) c.1711A>C (p.Thr571Pro) c.1606A>C (p.Thr536Pro) | |
| 3 | g.122284148A>G | CA354158972 | CASR | c.1963A>G (p.Thr655Ala) c.2224A>G (p.Thr742Ala) c.2194A>G (p.Thr732Ala) c.1711A>G (p.Thr571Ala) c.1606A>G (p.Thr536Ala) | ClinVar dbSNP COSMIC |
| 3 | g.122284148A>T | CA354158973 | CASR | c.1963A>T (p.Thr655Ser) c.2224A>T (p.Thr742Ser) c.2194A>T (p.Thr732Ser) c.1711A>T (p.Thr571Ser) c.1606A>T (p.Thr536Ser) | |
| 3 | g.122284149C>A | CA354158979 | CASR | c.1964C>A (p.Thr655Asn) c.2225C>A (p.Thr742Asn) c.2195C>A (p.Thr732Asn) c.1712C>A (p.Thr571Asn) c.1607C>A (p.Thr536Asn) | |
| 3 | g.122284149C>G | CA354158975 | CASR | c.1964C>G (p.Thr655Ser) c.2225C>G (p.Thr742Ser) c.2195C>G (p.Thr732Ser) c.1712C>G (p.Thr571Ser) c.1607C>G (p.Thr536Ser) | |
| 3 | g.122284149C>T | CA354158977 | CASR | c.1964C>T (p.Thr655Ile) c.2225C>T (p.Thr742Ile) c.2195C>T (p.Thr732Ile) c.1712C>T (p.Thr571Ile) c.1607C>T (p.Thr536Ile) | gnomAD v4 |
| 3 | g.122284150C>A | CA435425295 | CASR | c.1965C>A (p.Thr655=) c.2226C>A (p.Thr742=) c.2196C>A (p.Thr732=) c.1713C>A (p.Thr571=) c.1608C>A (p.Thr536=) | gnomAD v4 |
| 3 | g.122284150C>G | CA435425296 | CASR | c.1965C>G (p.Thr655=) c.2226C>G (p.Thr742=) c.2196C>G (p.Thr732=) c.1713C>G (p.Thr571=) c.1608C>G (p.Thr536=) | |
| 3 | g.122284150C>T | CA435425298 | CASR | c.1965C>T (p.Thr655=) c.2226C>T (p.Thr742=) c.2196C>T (p.Thr732=) c.1713C>T (p.Thr571=) c.1608C>T (p.Thr536=) | ClinVar gnomAD v4 |
| 3 | g.122284151T>A | CA354158982 | CASR | c.1966T>A (p.Phe656Ile) c.2227T>A (p.Phe743Ile) c.2197T>A (p.Phe733Ile) c.1714T>A (p.Phe572Ile) c.1609T>A (p.Phe537Ile) | gnomAD v4 |
| 3 | g.122284151T>C | CA354158984 | CASR | c.1966T>C (p.Phe656Leu) c.2227T>C (p.Phe743Leu) c.2197T>C (p.Phe733Leu) c.1714T>C (p.Phe572Leu) c.1609T>C (p.Phe537Leu) | |
| 3 | g.122284151T>G | CA354158985 | CASR | c.1966T>G (p.Phe656Val) c.2227T>G (p.Phe743Val) c.2197T>G (p.Phe733Val) c.1714T>G (p.Phe572Val) c.1609T>G (p.Phe537Val) | |
| 3 | g.122284152T>A | CA354158989 | CASR | c.1967T>A (p.Phe656Tyr) c.2228T>A (p.Phe743Tyr) c.2198T>A (p.Phe733Tyr) c.1715T>A (p.Phe572Tyr) c.1610T>A (p.Phe537Tyr) | |
| 3 | g.122284152T>C | CA354158991 | CASR | c.1967T>C (p.Phe656Ser) c.2228T>C (p.Phe743Ser) c.2198T>C (p.Phe733Ser) c.1715T>C (p.Phe572Ser) c.1610T>C (p.Phe537Ser) | |
| 3 | g.122284152T>G | CA354158993 | CASR | c.1967T>G (p.Phe656Cys) c.2228T>G (p.Phe743Cys) c.2198T>G (p.Phe733Cys) c.1715T>G (p.Phe572Cys) c.1610T>G (p.Phe537Cys) | |
| 3 | g.122284153C>A | CA354158995 | CASR | c.1968C>A (p.Phe656Leu) c.2229C>A (p.Phe743Leu) c.2199C>A (p.Phe733Leu) c.1716C>A (p.Phe572Leu) c.1611C>A (p.Phe537Leu) | ClinVar dbSNP |
| 3 | g.122284153C= | CA1397871778 | CASR | c.1968C= (p.Phe656=) c.2229C= (p.Phe743=) c.2199C= (p.Phe733=) c.1716C= (p.Phe572=) c.1611C= (p.Phe537=) | |
| 3 | g.122284153C>G | CA354158996 | CASR | c.1968C>G (p.Phe656Leu) c.2229C>G (p.Phe743Leu) c.2199C>G (p.Phe733Leu) c.1716C>G (p.Phe572Leu) c.1611C>G (p.Phe537Leu) | |
| 3 | g.122284153C>T | CA435425302 | CASR | c.1968C>T (p.Phe656=) c.2229C>T (p.Phe743=) c.2199C>T (p.Phe733=) c.1716C>T (p.Phe572=) c.1611C>T (p.Phe537=) | COSMIC |
| 3 | g.122284154A= | CA1397871784 | CASR | c.1969A= (p.Met657=) c.2230A= (p.Met744=) c.2200A= (p.Met734=) c.1717A= (p.Met573=) c.1612A= (p.Met538=) | |
| 3 | g.122284154A>C | CA354158997 | CASR | c.1969A>C (p.Met657Leu) c.2230A>C (p.Met744Leu) c.2200A>C (p.Met734Leu) c.1717A>C (p.Met573Leu) c.1612A>C (p.Met538Leu) | |
| 3 | g.122284154A>G | CA354158999 | CASR | c.1969A>G (p.Met657Val) c.2230A>G (p.Met744Val) c.2200A>G (p.Met734Val) c.1717A>G (p.Met573Val) c.1612A>G (p.Met538Val) | |
| 3 | g.122284154A>T | CA354159001 | CASR | c.1969A>T (p.Met657Leu) c.2230A>T (p.Met744Leu) c.2200A>T (p.Met734Leu) c.1717A>T (p.Met573Leu) c.1612A>T (p.Met538Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.122284155T>A | CA354159005 | CASR | c.1970T>A (p.Met657Lys) c.2231T>A (p.Met744Lys) c.2201T>A (p.Met734Lys) c.1718T>A (p.Met573Lys) c.1613T>A (p.Met538Lys) | |
| 3 | g.122284155T>C | CA354159008 | CASR | c.1970T>C (p.Met657Thr) c.2231T>C (p.Met744Thr) c.2201T>C (p.Met734Thr) c.1718T>C (p.Met573Thr) c.1613T>C (p.Met538Thr) | |
| 3 | g.122284155T>G | CA354159003 | CASR | c.1970T>G (p.Met657Arg) c.2231T>G (p.Met744Arg) c.2201T>G (p.Met734Arg) c.1718T>G (p.Met573Arg) c.1613T>G (p.Met538Arg) | gnomAD v4 |
| 3 | g.122284156G>A | CA82748800 | CASR | c.1971G>A (p.Met657Ile) c.2232G>A (p.Met744Ile) c.2202G>A (p.Met734Ile) c.1719G>A (p.Met573Ile) c.1614G>A (p.Met538Ile) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.122284156G>C | CA354159011 | CASR | c.1971G>C (p.Met657Ile) c.2232G>C (p.Met744Ile) c.2202G>C (p.Met734Ile) c.1719G>C (p.Met573Ile) c.1614G>C (p.Met538Ile) | |
| 3 | g.122284156G= | CA1397871787 | CASR | c.1971G= (p.Met657=) c.2232G= (p.Met744=) c.2202G= (p.Met734=) c.1719G= (p.Met573=) c.1614G= (p.Met538=) | |
| 3 | g.122284156G>T | CA354159013 | CASR | c.1971G>T (p.Met657Ile) c.2232G>T (p.Met744Ile) c.2202G>T (p.Met734Ile) c.1719G>T (p.Met573Ile) c.1614G>T (p.Met538Ile) | gnomAD v4 |
| 3 | g.122284157C>A | CA354159015 | CASR | c.1972C>A (p.Gln658Lys) c.2233C>A (p.Gln745Lys) c.2203C>A (p.Gln735Lys) c.1720C>A (p.Gln574Lys) c.1615C>A (p.Gln539Lys) | ClinVar dbSNP |
| 3 | g.122284157C= | CA1397871791 | CASR | c.1972C= (p.Gln658=) c.2233C= (p.Gln745=) c.2203C= (p.Gln735=) c.1720C= (p.Gln574=) c.1615C= (p.Gln539=) | |
| 3 | g.122284157C>G | CA354159018 | CASR | c.1972C>G (p.Gln658Glu) c.2233C>G (p.Gln745Glu) c.2203C>G (p.Gln735Glu) c.1720C>G (p.Gln574Glu) c.1615C>G (p.Gln539Glu) | ClinVar |
| 3 | g.122284157C>T | CA354159016 | CASR | c.1972C>T (p.Gln658Ter) c.2233C>T (p.Gln745Ter) c.2203C>T (p.Gln735Ter) c.1720C>T (p.Gln574Ter) c.1615C>T (p.Gln539Ter) | |
| 3 | g.122284158A>C | CA354159020 | CASR | c.1973A>C (p.Gln658Pro) c.2234A>C (p.Gln745Pro) c.2204A>C (p.Gln735Pro) c.1721A>C (p.Gln574Pro) c.1616A>C (p.Gln539Pro) | ClinVar |
| 3 | g.122284158A>G | CA354159021 | CASR | c.1973A>G (p.Gln658Arg) c.2234A>G (p.Gln745Arg) c.2204A>G (p.Gln735Arg) c.1721A>G (p.Gln574Arg) c.1616A>G (p.Gln539Arg) | |
| 3 | g.122284158A>T | CA354159022 | CASR | c.1973A>T (p.Gln658Leu) c.2234A>T (p.Gln745Leu) c.2204A>T (p.Gln735Leu) c.1721A>T (p.Gln574Leu) c.1616A>T (p.Gln539Leu) | |
| 3 | g.122284159G>A | CA435425310 | CASR | c.1974G>A (p.Gln658=) c.2235G>A (p.Gln745=) c.2205G>A (p.Gln735=) c.1722G>A (p.Gln574=) c.1617G>A (p.Gln539=) | |
| 3 | g.122284159G>C | CA354159023 | CASR | c.1974G>C (p.Gln658His) c.2235G>C (p.Gln745His) c.2205G>C (p.Gln735His) c.1722G>C (p.Gln574His) c.1617G>C (p.Gln539His) | ClinVar gnomAD v4 |
| 3 | g.122284159G>T | CA354159024 | CASR | c.1974G>T (p.Gln658His) c.2235G>T (p.Gln745His) c.2205G>T (p.Gln735His) c.1722G>T (p.Gln574His) c.1617G>T (p.Gln539His) | |
| 3 | g.122284160A>C | CA354159026 | CASR | c.1975A>C (p.Ile659Leu) c.2236A>C (p.Ile746Leu) c.2206A>C (p.Ile736Leu) c.1723A>C (p.Ile575Leu) c.1618A>C (p.Ile540Leu) | |
| 3 | g.122284160A>G | CA354159028 | CASR | c.1975A>G (p.Ile659Val) c.2236A>G (p.Ile746Val) c.2206A>G (p.Ile736Val) c.1723A>G (p.Ile575Val) c.1618A>G (p.Ile540Val) | |
| 3 | g.122284160A>T | CA354159030 | CASR | c.1975A>T (p.Ile659Phe) c.2236A>T (p.Ile746Phe) c.2206A>T (p.Ile736Phe) c.1723A>T (p.Ile575Phe) c.1618A>T (p.Ile540Phe) | |
| 3 | g.122284161T>A | CA354159031 | CASR | c.1976T>A (p.Ile659Asn) c.2237T>A (p.Ile746Asn) c.2207T>A (p.Ile736Asn) c.1724T>A (p.Ile575Asn) c.1619T>A (p.Ile540Asn) | |
| 3 | g.122284161T>C | CA2569791 | CASR | c.1976T>C (p.Ile659Thr) c.2237T>C (p.Ile746Thr) c.2207T>C (p.Ile736Thr) c.1724T>C (p.Ile575Thr) c.1619T>C (p.Ile540Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.122284161T>G | CA354159034 | CASR | c.1976T>G (p.Ile659Ser) c.2237T>G (p.Ile746Ser) c.2207T>G (p.Ile736Ser) c.1724T>G (p.Ile575Ser) c.1619T>G (p.Ile540Ser) | |
| 3 | g.122284161T= | CA1397871794 | CASR | c.1976T= (p.Ile659=) c.2237T= (p.Ile746=) c.2207T= (p.Ile736=) c.1724T= (p.Ile575=) c.1619T= (p.Ile540=) | |
| 3 | g.122284162T>A | CA435425314 | CASR | c.1977T>A (p.Ile659=) c.2238T>A (p.Ile746=) c.2208T>A (p.Ile736=) c.1725T>A (p.Ile575=) c.1620T>A (p.Ile540=) | |
| 3 | g.122284162T>C | CA435425315 | CASR | c.1977T>C (p.Ile659=) c.2238T>C (p.Ile746=) c.2208T>C (p.Ile736=) c.1725T>C (p.Ile575=) c.1620T>C (p.Ile540=) | |
| 3 | g.122284162T>G | CA354159036 | CASR | c.1977T>G (p.Ile659Met) c.2238T>G (p.Ile746Met) c.2208T>G (p.Ile736Met) c.1725T>G (p.Ile575Met) c.1620T>G (p.Ile540Met) | gnomAD v4 |
| 3 | g.122284163G>A | CA2569792 | CASR | c.1978G>A (p.Val660Ile) c.2239G>A (p.Val747Ile) c.2209G>A (p.Val737Ile) c.1726G>A (p.Val576Ile) c.1621G>A (p.Val541Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122284163G>C | CA354159039 | CASR | c.1978G>C (p.Val660Leu) c.2239G>C (p.Val747Leu) c.2209G>C (p.Val737Leu) c.1726G>C (p.Val576Leu) c.1621G>C (p.Val541Leu) | |
| 3 | g.122284163G= | CA1397871799 | CASR | c.1978G= (p.Val660=) c.2239G= (p.Val747=) c.2209G= (p.Val737=) c.1726G= (p.Val576=) c.1621G= (p.Val541=) | |
| 3 | g.122284163G>T | CA354159041 | CASR | c.1978G>T (p.Val660Phe) c.2239G>T (p.Val747Phe) c.2209G>T (p.Val737Phe) c.1726G>T (p.Val576Phe) c.1621G>T (p.Val541Phe) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.122284164T>A | CA354159044 | CASR | c.1979T>A (p.Val660Asp) c.2240T>A (p.Val747Asp) c.2210T>A (p.Val737Asp) c.1727T>A (p.Val576Asp) c.1622T>A (p.Val541Asp) | |
| 3 | g.122284164T>C | CA354159045 | CASR | c.1979T>C (p.Val660Ala) c.2240T>C (p.Val747Ala) c.2210T>C (p.Val737Ala) c.1727T>C (p.Val576Ala) c.1622T>C (p.Val541Ala) | |
| 3 | g.122284164T>G | CA354159046 | CASR | c.1979T>G (p.Val660Gly) c.2240T>G (p.Val747Gly) c.2210T>G (p.Val737Gly) c.1727T>G (p.Val576Gly) c.1622T>G (p.Val541Gly) | |
| 3 | g.122284165C>A | CA2569793 | CASR | c.1980C>A (p.Val660=) c.2241C>A (p.Val747=) c.2211C>A (p.Val737=) c.1728C>A (p.Val576=) c.1623C>A (p.Val541=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122284165C= | CA1397871800 | CASR | c.1980C= (p.Val660=) c.2241C= (p.Val747=) c.2211C= (p.Val737=) c.1728C= (p.Val576=) c.1623C= (p.Val541=) | |
| 3 | g.122284165C>G | CA435424710 | CASR | c.1980C>G (p.Val660=) c.2241C>G (p.Val747=) c.2211C>G (p.Val737=) c.1728C>G (p.Val576=) c.1623C>G (p.Val541=) | |
| 3 | g.122284165C>T | CA435424711 | CASR | c.1980C>T (p.Val660=) c.2241C>T (p.Val747=) c.2211C>T (p.Val737=) c.1728C>T (p.Val576=) c.1623C>T (p.Val541=) | ClinVar |
| 3 | g.122284166A>C | CA354159051 | CASR | c.1981A>C (p.Ile661Leu) c.2242A>C (p.Ile748Leu) c.2212A>C (p.Ile738Leu) c.1729A>C (p.Ile577Leu) c.1624A>C (p.Ile542Leu) | |
| 3 | g.122284166A>G | CA354159053 | CASR | c.1981A>G (p.Ile661Val) c.2242A>G (p.Ile748Val) c.2212A>G (p.Ile738Val) c.1729A>G (p.Ile577Val) c.1624A>G (p.Ile542Val) | gnomAD v4 |
| 3 | g.122284166A>T | CA354159055 | CASR | c.1981A>T (p.Ile661Phe) c.2242A>T (p.Ile748Phe) c.2212A>T (p.Ile738Phe) c.1729A>T (p.Ile577Phe) c.1624A>T (p.Ile542Phe) | |
| 3 | g.122284167T>A | CA354159057 | CASR | c.1982T>A (p.Ile661Asn) c.2243T>A (p.Ile748Asn) c.2213T>A (p.Ile738Asn) c.1730T>A (p.Ile577Asn) c.1625T>A (p.Ile542Asn) | |
| 3 | g.122284167T>C | CA2569794 | CASR | c.1982T>C (p.Ile661Thr) c.2243T>C (p.Ile748Thr) c.2213T>C (p.Ile738Thr) c.1730T>C (p.Ile577Thr) c.1625T>C (p.Ile542Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122284167T>G | CA354159059 | CASR | c.1982T>G (p.Ile661Ser) c.2243T>G (p.Ile748Ser) c.2213T>G (p.Ile738Ser) c.1730T>G (p.Ile577Ser) c.1625T>G (p.Ile542Ser) | |
| 3 | g.122284167T= | CA1397871801 | CASR | c.1982T= (p.Ile661=) c.2243T= (p.Ile748=) c.2213T= (p.Ile738=) c.1730T= (p.Ile577=) c.1625T= (p.Ile542=) | |
| 3 | g.122284168C>A | CA435424715 | CASR | c.1983C>A (p.Ile661=) c.2244C>A (p.Ile748=) c.2214C>A (p.Ile738=) c.1731C>A (p.Ile577=) c.1626C>A (p.Ile542=) | COSMIC |
| 3 | g.122284168C>G | CA354159061 | CASR | c.1983C>G (p.Ile661Met) c.2244C>G (p.Ile748Met) c.2214C>G (p.Ile738Met) c.1731C>G (p.Ile577Met) c.1626C>G (p.Ile542Met) | |
| 3 | g.122284168C>T | CA435424714 | CASR | c.1983C>T (p.Ile661=) c.2244C>T (p.Ile748=) c.2214C>T (p.Ile738=) c.1731C>T (p.Ile577=) c.1626C>T (p.Ile542=) | |
| 3 | g.122284169T>A | CA354159067 | CASR | c.1984T>A (p.Cys662Ser) c.2245T>A (p.Cys749Ser) c.2215T>A (p.Cys739Ser) c.1732T>A (p.Cys578Ser) c.1627T>A (p.Cys543Ser) | |
| 3 | g.122284169T>C | CA354159065 | CASR | c.1984T>C (p.Cys662Arg) c.2245T>C (p.Cys749Arg) c.2215T>C (p.Cys739Arg) c.1732T>C (p.Cys578Arg) c.1627T>C (p.Cys543Arg) | |
| 3 | g.122284169T>G | CA354159063 | CASR | c.1984T>G (p.Cys662Gly) c.2245T>G (p.Cys749Gly) c.2215T>G (p.Cys739Gly) c.1732T>G (p.Cys578Gly) c.1627T>G (p.Cys543Gly) | |
| 3 | g.122284170G>A | CA2569795 | CASR | c.1985G>A (p.Cys662Tyr) c.2246G>A (p.Cys749Tyr) c.2216G>A (p.Cys739Tyr) c.1733G>A (p.Cys578Tyr) c.1628G>A (p.Cys543Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122284170G>C | CA354159070 | CASR | c.1985G>C (p.Cys662Ser) c.2246G>C (p.Cys749Ser) c.2216G>C (p.Cys739Ser) c.1733G>C (p.Cys578Ser) c.1628G>C (p.Cys543Ser) | ClinVar dbSNP |
| 3 | g.122284170G= | CA1397871802 | CASR | c.1985G= (p.Cys662=) c.2246G= (p.Cys749=) c.2216G= (p.Cys739=) c.1733G= (p.Cys578=) c.1628G= (p.Cys543=) | |
| 3 | g.122284170G>T | CA354159073 | CASR | c.1985G>T (p.Cys662Phe) c.2246G>T (p.Cys749Phe) c.2216G>T (p.Cys739Phe) c.1733G>T (p.Cys578Phe) c.1628G>T (p.Cys543Phe) | |
| 3 | g.122284171T>A | CA354159075 | CASR | c.1986T>A (p.Cys662Ter) c.2247T>A (p.Cys749Ter) c.2217T>A (p.Cys739Ter) c.1734T>A (p.Cys578Ter) c.1629T>A (p.Cys543Ter) | |
| 3 | g.122284171T>C | CA435424720 | CASR | c.1986T>C (p.Cys662=) c.2247T>C (p.Cys749=) c.2217T>C (p.Cys739=) c.1734T>C (p.Cys578=) c.1629T>C (p.Cys543=) | |
| 3 | g.122284171T>G | CA354159077 | CASR | c.1986T>G (p.Cys662Trp) c.2247T>G (p.Cys749Trp) c.2217T>G (p.Cys739Trp) c.1734T>G (p.Cys578Trp) c.1629T>G (p.Cys543Trp) | |
| 3 | g.122284172G>A | CA354159080 | CASR | c.1987G>A (p.Val663Met) c.2248G>A (p.Val750Met) c.2218G>A (p.Val740Met) c.1735G>A (p.Val579Met) c.1630G>A (p.Val544Met) | |
| 3 | g.122284172G>C | CA354159079 | CASR | c.1987G>C (p.Val663Leu) c.2248G>C (p.Val750Leu) c.2218G>C (p.Val740Leu) c.1735G>C (p.Val579Leu) c.1630G>C (p.Val544Leu) | |
| 3 | g.122284172G>T | CA354159078 | CASR | c.1987G>T (p.Val663Leu) c.2248G>T (p.Val750Leu) c.2218G>T (p.Val740Leu) c.1735G>T (p.Val579Leu) c.1630G>T (p.Val544Leu) | |
| 3 | g.122284173T>A | CA354159082 | CASR | c.1988T>A (p.Val663Glu) c.2249T>A (p.Val750Glu) c.2219T>A (p.Val740Glu) c.1736T>A (p.Val579Glu) c.1631T>A (p.Val544Glu) | |
| 3 | g.122284173T>C | CA354159083 | CASR | c.1988T>C (p.Val663Ala) c.2249T>C (p.Val750Ala) c.2219T>C (p.Val740Ala) c.1736T>C (p.Val579Ala) c.1631T>C (p.Val544Ala) | |
| 3 | g.122284173T>G | CA354159084 | CASR | c.1988T>G (p.Val663Gly) c.2249T>G (p.Val750Gly) c.2219T>G (p.Val740Gly) c.1736T>G (p.Val579Gly) c.1631T>G (p.Val544Gly) | |
| 3 | g.122284174G>A | CA435424726 | CASR | c.1989G>A (p.Val663=) c.2250G>A (p.Val750=) c.2220G>A (p.Val740=) c.1737G>A (p.Val579=) c.1632G>A (p.Val544=) | |
| 3 | g.122284174G>C | CA435424724 | CASR | c.1989G>C (p.Val663=) c.2250G>C (p.Val750=) c.2220G>C (p.Val740=) c.1737G>C (p.Val579=) c.1632G>C (p.Val544=) | ClinVar |
| 3 | g.122284174G>T | CA435424727 | CASR | c.1989G>T (p.Val663=) c.2250G>T (p.Val750=) c.2220G>T (p.Val740=) c.1737G>T (p.Val579=) c.1632G>T (p.Val544=) | |
| 3 | g.122284175A>C | CA354159087 | CASR | c.1990A>C (p.Ile664Leu) c.2251A>C (p.Ile751Leu) c.2221A>C (p.Ile741Leu) c.1738A>C (p.Ile580Leu) c.1633A>C (p.Ile545Leu) | |
| 3 | g.122284175A>G | CA354159088 | CASR | c.1990A>G (p.Ile664Val) c.2251A>G (p.Ile751Val) c.2221A>G (p.Ile741Val) c.1738A>G (p.Ile580Val) c.1633A>G (p.Ile545Val) | |
| 3 | g.122284175A>T | CA354159090 | CASR | c.1990A>T (p.Ile664Phe) c.2251A>T (p.Ile751Phe) c.2221A>T (p.Ile741Phe) c.1738A>T (p.Ile580Phe) c.1633A>T (p.Ile545Phe) | |
| 3 | g.122284176T>A | CA354159093 | CASR | c.1991T>A (p.Ile664Asn) c.2252T>A (p.Ile751Asn) c.2222T>A (p.Ile741Asn) c.1739T>A (p.Ile580Asn) c.1634T>A (p.Ile545Asn) | |
| 3 | g.122284176T>C | CA354159096 | CASR | c.1991T>C (p.Ile664Thr) c.2252T>C (p.Ile751Thr) c.2222T>C (p.Ile741Thr) c.1739T>C (p.Ile580Thr) c.1634T>C (p.Ile545Thr) | |
| 3 | g.122284176T>G | CA354159094 | CASR | c.1991T>G (p.Ile664Ser) c.2252T>G (p.Ile751Ser) c.2222T>G (p.Ile741Ser) c.1739T>G (p.Ile580Ser) c.1634T>G (p.Ile545Ser) | |
| 3 | g.122284177C>A | CA435424729 | CASR | c.1992C>A (p.Ile664=) c.2253C>A (p.Ile751=) c.2223C>A (p.Ile741=) c.1740C>A (p.Ile580=) c.1635C>A (p.Ile545=) | |
| 3 | g.122284177C>G | CA354159098 | CASR | c.1992C>G (p.Ile664Met) c.2253C>G (p.Ile751Met) c.2223C>G (p.Ile741Met) c.1740C>G (p.Ile580Met) c.1635C>G (p.Ile545Met) | |
| 3 | g.122284177C>T | CA435424728 | CASR | c.1992C>T (p.Ile664=) c.2253C>T (p.Ile751=) c.2223C>T (p.Ile741=) c.1740C>T (p.Ile580=) c.1635C>T (p.Ile545=) | |
| 3 | g.122284178T>A | CA354159101 | CASR | c.1993T>A (p.Trp665Arg) c.2254T>A (p.Trp752Arg) c.2224T>A (p.Trp742Arg) c.1741T>A (p.Trp581Arg) c.1636T>A (p.Trp546Arg) | |
| 3 | g.122284178T>C | CA354159102 | CASR | c.1993T>C (p.Trp665Arg) c.2254T>C (p.Trp752Arg) c.2224T>C (p.Trp742Arg) c.1741T>C (p.Trp581Arg) c.1636T>C (p.Trp546Arg) | |
| 3 | g.122284178T>G | CA354159105 | CASR | c.1993T>G (p.Trp665Gly) c.2254T>G (p.Trp752Gly) c.2224T>G (p.Trp742Gly) c.1741T>G (p.Trp581Gly) c.1636T>G (p.Trp546Gly) | |
| 3 | g.122284179G>A | CA354159107 | CASR | c.1994G>A (p.Trp665Ter) c.2255G>A (p.Trp752Ter) c.2225G>A (p.Trp742Ter) c.1742G>A (p.Trp581Ter) c.1637G>A (p.Trp546Ter) | |
| 3 | g.122284179G>C | CA354159108 | CASR | c.1994G>C (p.Trp665Ser) c.2255G>C (p.Trp752Ser) c.2225G>C (p.Trp742Ser) c.1742G>C (p.Trp581Ser) c.1637G>C (p.Trp546Ser) | |
| 3 | g.122284179G>T | CA354159110 | CASR | c.1994G>T (p.Trp665Leu) c.2255G>T (p.Trp752Leu) c.2225G>T (p.Trp742Leu) c.1742G>T (p.Trp581Leu) c.1637G>T (p.Trp546Leu) | |
| 3 | g.122284180G>A | CA354159112 | CASR | c.1995G>A (p.Trp665Ter) c.2256G>A (p.Trp752Ter) c.2226G>A (p.Trp742Ter) c.1743G>A (p.Trp581Ter) c.1638G>A (p.Trp546Ter) | gnomAD v4 |
| 3 | g.122284180G>C | CA354159113 | CASR | c.1995G>C (p.Trp665Cys) c.2256G>C (p.Trp752Cys) c.2226G>C (p.Trp742Cys) c.1743G>C (p.Trp581Cys) c.1638G>C (p.Trp546Cys) | |
| 3 | g.122284180G>T | CA354159116 | CASR | c.1995G>T (p.Trp665Cys) c.2256G>T (p.Trp752Cys) c.2226G>T (p.Trp742Cys) c.1743G>T (p.Trp581Cys) c.1638G>T (p.Trp546Cys) | |
| 3 | g.122284181C>A | CA354159122 | CASR | c.1996C>A (p.Leu666Ile) c.2257C>A (p.Leu753Ile) c.2227C>A (p.Leu743Ile) c.1744C>A (p.Leu582Ile) c.1639C>A (p.Leu547Ile) | |
| 3 | g.122284181C>G | CA354159120 | CASR | c.1996C>G (p.Leu666Val) c.2257C>G (p.Leu753Val) c.2227C>G (p.Leu743Val) c.1744C>G (p.Leu582Val) c.1639C>G (p.Leu547Val) | |
| 3 | g.122284181C>T | CA354159118 | CASR | c.1996C>T (p.Leu666Phe) c.2257C>T (p.Leu753Phe) c.2227C>T (p.Leu743Phe) c.1744C>T (p.Leu582Phe) c.1639C>T (p.Leu547Phe) | |
| 3 | g.122284182T>A | CA354159123 | CASR | c.1997T>A (p.Leu666His) c.2258T>A (p.Leu753His) c.2228T>A (p.Leu743His) c.1745T>A (p.Leu582His) c.1640T>A (p.Leu547His) | |
| 3 | g.122284182T>C | CA354159127 | CASR | c.1997T>C (p.Leu666Pro) c.2258T>C (p.Leu753Pro) c.2228T>C (p.Leu743Pro) c.1745T>C (p.Leu582Pro) c.1640T>C (p.Leu547Pro) | |
| 3 | g.122284182T>G | CA354159125 | CASR | c.1997T>G (p.Leu666Arg) c.2258T>G (p.Leu753Arg) c.2228T>G (p.Leu743Arg) c.1745T>G (p.Leu582Arg) c.1640T>G (p.Leu547Arg) | |
| 3 | g.122284183C>A | CA435424732 | CASR | c.1998C>A (p.Leu666=) c.2259C>A (p.Leu753=) c.2229C>A (p.Leu743=) c.1746C>A (p.Leu582=) c.1641C>A (p.Leu547=) | |
| 3 | g.122284183C= | CA1397871803 | CASR | c.1998C= (p.Leu666=) c.2259C= (p.Leu753=) c.2229C= (p.Leu743=) c.1746C= (p.Leu582=) c.1641C= (p.Leu547=) | |
| 3 | g.122284183C>G | CA435424733 | CASR | c.1998C>G (p.Leu666=) c.2259C>G (p.Leu753=) c.2229C>G (p.Leu743=) c.1746C>G (p.Leu582=) c.1641C>G (p.Leu547=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122284183C>T | CA82748819 | CASR | c.1998C>T (p.Leu666=) c.2259C>T (p.Leu753=) c.2229C>T (p.Leu743=) c.1746C>T (p.Leu582=) c.1641C>T (p.Leu547=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.122284183_122284184insAA | CA2542307779 | CASR | c.1998_1999insAA (p.Tyr667AsnfsTer?) c.2259_2260insAA (p.Tyr754AsnfsTer?) c.2229_2230insAA (p.Tyr744AsnfsTer?) c.1746_1747insAA (p.Tyr583AsnfsTer?) c.1641_1642insAA (p.Tyr548AsnfsTer?) | |
| 3 | g.122284184T>A | CA354159130 | CASR | c.1999T>A (p.Tyr667Asn) c.2260T>A (p.Tyr754Asn) c.2230T>A (p.Tyr744Asn) c.1747T>A (p.Tyr583Asn) c.1642T>A (p.Tyr548Asn) | |
| 3 | g.122284184T>C | CA354159132 | CASR | c.1999T>C (p.Tyr667His) c.2260T>C (p.Tyr754His) c.2230T>C (p.Tyr744His) c.1747T>C (p.Tyr583His) c.1642T>C (p.Tyr548His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122284184T>G | CA354159134 | CASR | c.1999T>G (p.Tyr667Asp) c.2260T>G (p.Tyr754Asp) c.2230T>G (p.Tyr744Asp) c.1747T>G (p.Tyr583Asp) c.1642T>G (p.Tyr548Asp) | |
| 3 | g.122284184T= | CA1397871805 | CASR | c.1999T= (p.Tyr667=) c.2260T= (p.Tyr754=) c.2230T= (p.Tyr744=) c.1747T= (p.Tyr583=) c.1642T= (p.Tyr548=) | |
| 3 | g.122284185A= | CA1397871806 | CASR | c.2000A= (p.Tyr667=) c.2261A= (p.Tyr754=) c.2231A= (p.Tyr744=) c.1748A= (p.Tyr583=) c.1643A= (p.Tyr548=) | |
| 3 | g.122284185A>C | CA354159136 | CASR | c.2000A>C (p.Tyr667Ser) c.2261A>C (p.Tyr754Ser) c.2231A>C (p.Tyr744Ser) c.1748A>C (p.Tyr583Ser) c.1643A>C (p.Tyr548Ser) | gnomAD v4 |
| 3 | g.122284185A>G | CA354159138 | CASR | c.2000A>G (p.Tyr667Cys) c.2261A>G (p.Tyr754Cys) c.2231A>G (p.Tyr744Cys) c.1748A>G (p.Tyr583Cys) c.1643A>G (p.Tyr548Cys) | |
| 3 | g.122284185A>T | CA2569796 | CASR | c.2000A>T (p.Tyr667Phe) c.2261A>T (p.Tyr754Phe) c.2231A>T (p.Tyr744Phe) c.1748A>T (p.Tyr583Phe) c.1643A>T (p.Tyr548Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.122284186C>A | CA354159141 | CASR | c.2001C>A (p.Tyr667Ter) c.2262C>A (p.Tyr754Ter) c.2232C>A (p.Tyr744Ter) c.1749C>A (p.Tyr583Ter) c.1644C>A (p.Tyr548Ter) | |
| 3 | g.122284186C>G | CA354159142 | CASR | c.2001C>G (p.Tyr667Ter) c.2262C>G (p.Tyr754Ter) c.2232C>G (p.Tyr744Ter) c.1749C>G (p.Tyr583Ter) c.1644C>G (p.Tyr548Ter) | |
| 3 | g.122284186C>T | CA435424735 | CASR | c.2001C>T (p.Tyr667=) c.2262C>T (p.Tyr754=) c.2232C>T (p.Tyr744=) c.1749C>T (p.Tyr583=) c.1644C>T (p.Tyr548=) | ClinVar |
| 3 | g.122284187A>C | CA354159145 | CASR | c.2002A>C (p.Thr668Pro) c.2263A>C (p.Thr755Pro) c.2233A>C (p.Thr745Pro) c.1750A>C (p.Thr584Pro) c.1645A>C (p.Thr549Pro) | |
| 3 | g.122284187A>G | CA354159147 | CASR | c.2002A>G (p.Thr668Ala) c.2263A>G (p.Thr755Ala) c.2233A>G (p.Thr745Ala) c.1750A>G (p.Thr584Ala) c.1645A>G (p.Thr549Ala) | gnomAD v4 |
| 3 | g.122284187A>T | CA354159150 | CASR | c.2002A>T (p.Thr668Ser) c.2263A>T (p.Thr755Ser) c.2233A>T (p.Thr745Ser) c.1750A>T (p.Thr584Ser) c.1645A>T (p.Thr549Ser) | |
| 3 | g.122284188C>A | CA354159152 | CASR | c.2003C>A (p.Thr668Asn) c.2264C>A (p.Thr755Asn) c.2234C>A (p.Thr745Asn) c.1751C>A (p.Thr584Asn) c.1646C>A (p.Thr549Asn) | ClinVar |
| 3 | g.122284188C>G | CA354159154 | CASR | c.2003C>G (p.Thr668Ser) c.2264C>G (p.Thr755Ser) c.2234C>G (p.Thr745Ser) c.1751C>G (p.Thr584Ser) c.1646C>G (p.Thr549Ser) | |
| 3 | g.122284188C>T | CA354159153 | CASR | c.2003C>T (p.Thr668Ile) c.2264C>T (p.Thr755Ile) c.2234C>T (p.Thr745Ile) c.1751C>T (p.Thr584Ile) c.1646C>T (p.Thr549Ile) | ClinVar gnomAD v4 |
| 3 | g.122284188_122284189del | CA2569797172 | CASR | c.2003_2004del (p.Thr668SerfsTer14) c.2264_2265del (p.Thr755SerfsTer14) c.2234_2235del (p.Thr745SerfsTer14) c.1751_1752del (p.Thr584SerfsTer14) c.1646_1647del (p.Thr549SerfsTer14) | |
| 3 | g.122284189C>A | CA435424738 | CASR | c.2004C>A (p.Thr668=) c.2265C>A (p.Thr755=) c.2235C>A (p.Thr745=) c.1752C>A (p.Thr584=) c.1647C>A (p.Thr549=) | dbSNP |
| 3 | g.122284189C= | CA1397871807 | CASR | c.2004C= (p.Thr668=) c.2265C= (p.Thr755=) c.2235C= (p.Thr745=) c.1752C= (p.Thr584=) c.1647C= (p.Thr549=) | |
| 3 | g.122284189C>G | CA2569797 | CASR | c.2004C>G (p.Thr668=) c.2265C>G (p.Thr755=) c.2235C>G (p.Thr745=) c.1752C>G (p.Thr584=) c.1647C>G (p.Thr549=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122284189C>T | CA2569798 | CASR | c.2004C>T (p.Thr668=) c.2265C>T (p.Thr755=) c.2235C>T (p.Thr745=) c.1752C>T (p.Thr584=) c.1647C>T (p.Thr549=) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
| 3 | g.122284190G>A | CA2569799 | CASR | c.2005G>A (p.Ala669Thr) c.2266G>A (p.Ala756Thr) c.2236G>A (p.Ala746Thr) c.1753G>A (p.Ala585Thr) c.1648G>A (p.Ala550Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122284190G>C | CA354159155 | CASR | c.2005G>C (p.Ala669Pro) c.2266G>C (p.Ala756Pro) c.2236G>C (p.Ala746Pro) c.1753G>C (p.Ala585Pro) c.1648G>C (p.Ala550Pro) | |
| 3 | g.122284190G= | CA1397871808 | CASR | c.2005G= (p.Ala669=) c.2266G= (p.Ala756=) c.2236G= (p.Ala746=) c.1753G= (p.Ala585=) c.1648G= (p.Ala550=) | |
| 3 | g.122284190G>T | CA354159156 | CASR | c.2005G>T (p.Ala669Ser) c.2266G>T (p.Ala756Ser) c.2236G>T (p.Ala746Ser) c.1753G>T (p.Ala585Ser) c.1648G>T (p.Ala550Ser) | gnomAD v4 |
| 3 | g.122284191C>A | CA354159157 | CASR | c.2006C>A (p.Ala669Glu) c.2267C>A (p.Ala756Glu) c.2237C>A (p.Ala746Glu) c.1754C>A (p.Ala585Glu) c.1649C>A (p.Ala550Glu) | |
| 3 | g.122284191C= | CA1397871809 | CASR | c.2006C= (p.Ala669=) c.2267C= (p.Ala756=) c.2237C= (p.Ala746=) c.1754C= (p.Ala585=) c.1649C= (p.Ala550=) | |
| 3 | g.122284191C>G | CA354159158 | CASR | c.2006C>G (p.Ala669Gly) c.2267C>G (p.Ala756Gly) c.2237C>G (p.Ala746Gly) c.1754C>G (p.Ala585Gly) c.1649C>G (p.Ala550Gly) | |
| 3 | g.122284191C>T | CA2569800 | CASR | c.2006C>T (p.Ala669Val) c.2267C>T (p.Ala756Val) c.2237C>T (p.Ala746Val) c.1754C>T (p.Ala585Val) c.1649C>T (p.Ala550Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122284192G>A | CA2569801 | CASR | c.2007G>A (p.Ala669=) c.2268G>A (p.Ala756=) c.2238G>A (p.Ala746=) c.1755G>A (p.Ala585=) c.1650G>A (p.Ala550=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.122284192G>C | CA435424745 | CASR | c.2007G>C (p.Ala669=) c.2268G>C (p.Ala756=) c.2238G>C (p.Ala746=) c.1755G>C (p.Ala585=) c.1650G>C (p.Ala550=) | ClinVar |
| 3 | g.122284192G= | CA1397871823 | CASR | c.2007G= (p.Ala669=) c.2268G= (p.Ala756=) c.2238G= (p.Ala746=) c.1755G= (p.Ala585=) c.1650G= (p.Ala550=) | |
| 3 | g.122284192G>T | CA2569802 | CASR | c.2007G>T (p.Ala669=) c.2268G>T (p.Ala756=) c.2238G>T (p.Ala746=) c.1755G>T (p.Ala585=) c.1650G>T (p.Ala550=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122284193C>A | CA354159160 | CASR | c.2008C>A (p.Pro670Thr) c.2269C>A (p.Pro757Thr) c.2239C>A (p.Pro747Thr) c.1756C>A (p.Pro586Thr) c.1651C>A (p.Pro551Thr) | gnomAD v4 |
| 3 | g.122284193C= | CA1397871824 | CASR | c.2008C= (p.Pro670=) c.2269C= (p.Pro757=) c.2239C= (p.Pro747=) c.1756C= (p.Pro586=) c.1651C= (p.Pro551=) | |
| 3 | g.122284193C>G | CA354159161 | CASR | c.2008C>G (p.Pro670Ala) c.2269C>G (p.Pro757Ala) c.2239C>G (p.Pro747Ala) c.1756C>G (p.Pro586Ala) c.1651C>G (p.Pro551Ala) | ClinVar dbSNP |
| 3 | g.122284193C>T | CA354159159 | CASR | c.2008C>T (p.Pro670Ser) c.2269C>T (p.Pro757Ser) c.2239C>T (p.Pro747Ser) c.1756C>T (p.Pro586Ser) c.1651C>T (p.Pro551Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.122284193_122284194delinsT | CA2586972867 | CASR | c.2008_2009delinsT (p.Pro670SerfsTer30) c.2269_2270delinsT (p.Pro757SerfsTer30) c.2239_2240delinsT (p.Pro747SerfsTer30) c.1756_1757delinsT (p.Pro586SerfsTer30) c.1651_1652delinsT (p.Pro551SerfsTer30) | |
| 3 | g.122284197dup | CA545962752 | CASR | c.2012dup (p.Ser672ValfsTer11) c.2273dup (p.Ser759ValfsTer11) c.2243dup (p.Ser749ValfsTer11) c.2243dup (p.Ser749LeufsTer11) c.2273dup (p.Ser759LeufsTer11) c.1760dup (p.Ser588ValfsTer11) c.1655dup (p.Ser553ValfsTer11) | gnomAD v2 gnomAD v4 |
| 3 | g.122284194C>A | CA354159162 | CASR | c.2009C>A (p.Pro670His) c.2270C>A (p.Pro757His) c.2240C>A (p.Pro747His) c.1757C>A (p.Pro586His) c.1652C>A (p.Pro551His) | |
| 3 | g.122284194C>G | CA354159163 | CASR | c.2009C>G (p.Pro670Arg) c.2270C>G (p.Pro757Arg) c.2240C>G (p.Pro747Arg) c.1757C>G (p.Pro586Arg) c.1652C>G (p.Pro551Arg) | ClinVar |
| 3 | g.122284194C>T | CA354159164 | CASR | c.2009C>T (p.Pro670Leu) c.2270C>T (p.Pro757Leu) c.2240C>T (p.Pro747Leu) c.1757C>T (p.Pro586Leu) c.1652C>T (p.Pro551Leu) | COSMIC |
| 3 | g.122284194_122284196delinsCCC | CA1397871827 | CASR | c.2009_2011delinsCCC (p.Pro670=) c.2270_2272delinsCCC (p.Pro757=) c.2240_2242delinsCCC (p.Pro747=) c.1757_1759delinsCCC (p.Pro586=) c.1652_1654delinsCCC (p.Pro551=) | |
| 3 | g.122284195C>A | CA435424753 | CASR | c.2010C>A (p.Pro670=) c.2271C>A (p.Pro757=) c.2241C>A (p.Pro747=) c.1758C>A (p.Pro586=) c.1653C>A (p.Pro551=) | dbSNP gnomAD v4 |
| 3 | g.122284195C= | CA1397871831 | CASR | c.2010C= (p.Pro670=) c.2271C= (p.Pro757=) c.2241C= (p.Pro747=) c.1758C= (p.Pro586=) c.1653C= (p.Pro551=) | |
| 3 | g.122284195C>G | CA435424750 | CASR | c.2010C>G (p.Pro670=) c.2271C>G (p.Pro757=) c.2241C>G (p.Pro747=) c.1758C>G (p.Pro586=) c.1653C>G (p.Pro551=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122284195C>T | CA435424755 | CASR | c.2010C>T (p.Pro670=) c.2271C>T (p.Pro757=) c.2241C>T (p.Pro747=) c.1758C>T (p.Pro586=) c.1653C>T (p.Pro551=) | gnomAD v4 |
| 3 | g.122284195_122284196delinsT | CA351387 | CASR | c.2010_2011delinsT (p.Pro671ArgfsTer29) c.2271_2272delinsT (p.Pro758ArgfsTer29) c.2241_2242delinsT (p.Pro748ArgfsTer29) c.2241_2242delinsT (p.Ser749GlnfsTer28) c.2271_2272delinsT (p.Ser759GlnfsTer28) c.1758_1759delinsT (p.Pro587ArgfsTer29) c.1653_1654delinsT (p.Pro552ArgfsTer29) | ClinVar dbSNP |
| 3 | g.122284196C>A | CA354159165 | CASR | c.2011C>A (p.Pro671Thr) c.2272C>A (p.Pro758Thr) c.2242C>A (p.Pro748Thr) c.1759C>A (p.Pro587Thr) c.1654C>A (p.Pro552Thr) | |
| 3 | g.122284196C= | CA1397871839 | CASR | c.2011C= (p.Pro671=) c.2272C= (p.Pro758=) c.2242C= (p.Pro748=) c.1759C= (p.Pro587=) c.1654C= (p.Pro552=) | |
| 3 | g.122284196C>G | CA354159166 | CASR | c.2011C>G (p.Pro671Ala) c.2272C>G (p.Pro758Ala) c.2242C>G (p.Pro748Ala) c.1759C>G (p.Pro587Ala) c.1654C>G (p.Pro552Ala) | dbSNP |
| 3 | g.122284196C>T | CA354159167 | CASR | c.2011C>T (p.Pro671Ser) c.2272C>T (p.Pro758Ser) c.2242C>T (p.Pro748Ser) c.1759C>T (p.Pro587Ser) c.1654C>T (p.Pro552Ser) | ClinVar dbSNP gnomAD v4 COSMIC |
| 3 | g.122284196_122284197insG | CA82748855 | CASR | c.2011_2012insG (p.Pro671ArgfsTer12) c.2272_2273insG (p.Pro758ArgfsTer12) c.2242_2243insG (p.Pro748ArgfsTer12) c.1759_1760insG (p.Pro587ArgfsTer12) c.1654_1655insG (p.Pro552ArgfsTer12) | |
| 3 | g.122284197C>A | CA213582 | CASR | c.2012C>A (p.Pro671Gln) c.2273C>A (p.Pro758Gln) c.2243C>A (p.Pro748Gln) c.2243C>A (p.Pro748His) c.2273C>A (p.Pro758His) c.1760C>A (p.Pro587Gln) c.1655C>A (p.Pro552Gln) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122284197C= | CA1397871864 | CASR | c.2012C= (p.Pro671=) c.2273C= (p.Pro758=) c.2243C= (p.Pro748=) c.1760C= (p.Pro587=) c.1655C= (p.Pro552=) | |
| 3 | g.122284197C>G | CA354159168 | CASR | c.2012C>G (p.Pro671Arg) c.2273C>G (p.Pro758Arg) c.2243C>G (p.Pro748Arg) c.1760C>G (p.Pro587Arg) c.1655C>G (p.Pro552Arg) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122284197C>T | CA354159169 | CASR | c.2012C>T (p.Pro671Leu) c.2273C>T (p.Pro758Leu) c.2243C>T (p.Pro748Leu) c.1760C>T (p.Pro587Leu) c.1655C>T (p.Pro552Leu) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122284197_122284198delinsAC | CA213581 | CASR | c.2012_2013delinsAC (p.Pro671His) c.2273_2274delinsAC (p.Pro758His) c.2243_2244delinsAC (p.Pro748His) c.1760_1761delinsAC (p.Pro587His) c.1655_1656delinsAC (p.Pro552His) | |
| 3 | g.122284197_122284198delinsCG | CA1397871858 | CASR | c.2012_2013delinsCG (p.Pro671=) c.2273_2274delinsCG (p.Pro758=) c.2243_2244delinsCG (p.Pro748=) c.1760_1761delinsCG (p.Pro587=) c.1655_1656delinsCG (p.Pro552=) | |
| 3 | g.122284198del | CA435424761 | CASR | c.2013del (p.Ser672GlnfsTer28) c.2274del (p.Ser759GlnfsTer28) c.2244del (p.Ser749GlnfsTer28) c.1761del (p.Ser588GlnfsTer28) c.1656del (p.Ser553GlnfsTer28) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.122284198G>A | CA435424757 | CASR | c.2013G>A (p.Pro671=) c.2274G>A (p.Pro758=) c.2244G>A (p.Pro748=) c.1761G>A (p.Pro587=) c.1656G>A (p.Pro552=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.122284198G>C | CA179844 | CASR | c.2013G>C (p.Pro671=) c.2274G>C (p.Pro758=) c.2244G>C (p.Pro748=) c.1761G>C (p.Pro587=) c.1656G>C (p.Pro552=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122284198G= | CA10582122 | CASR | c.2013G= (p.Pro671=) c.2274G= (p.Pro758=) c.2244G= (p.Pro748=) c.1761G= (p.Pro587=) c.1656G= (p.Pro552=) | |
| 3 | g.122284198G>T | CA435424760 | CASR | c.2013G>T (p.Pro671=) c.2274G>T (p.Pro758=) c.2244G>T (p.Pro748=) c.1761G>T (p.Pro587=) c.1656G>T (p.Pro552=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.122284198delinsCC | CA915941532 | CASR | c.2013delinsCC (p.Ser672LeufsTer11) c.2274delinsCC (p.Ser759LeufsTer11) c.2244delinsCC (p.Ser749LeufsTer11) c.1761delinsCC (p.Ser588LeufsTer11) c.1656delinsCC (p.Ser553LeufsTer11) | ClinVar dbSNP |
| 3 | g.122284198dup | CA658657330 | CASR | c.2013dup (p.Ser672ValfsTer11) c.2274dup (p.Ser759ValfsTer11) c.2244dup (p.Ser749ValfsTer11) c.1761dup (p.Ser588ValfsTer11) c.1656dup (p.Ser553ValfsTer11) | dbSNP |
| 3 | g.122284198_122284199delinsCG | CA2573136461 | CASR | c.2013_2014delinsCG (p.Ser672Ala) c.2274_2275delinsCG (p.Ser759Ala) c.2244_2245delinsCG (p.Ser749Ala) c.1761_1762delinsCG (p.Ser588Ala) c.1656_1657delinsCG (p.Ser553Ala) | ClinVar dbSNP |
| 3 | g.122284199T>A | CA354159171 | CASR | c.2014T>A (p.Ser672Thr) c.2275T>A (p.Ser759Thr) c.2245T>A (p.Ser749Thr) c.1762T>A (p.Ser588Thr) c.1657T>A (p.Ser553Thr) | |
| 3 | g.122284199T>C | CA354159170 | CASR | c.2014T>C (p.Ser672Pro) c.2275T>C (p.Ser759Pro) c.2245T>C (p.Ser749Pro) c.1762T>C (p.Ser588Pro) c.1657T>C (p.Ser553Pro) | |
| 3 | g.122284199T>G | CA2569803 | CASR | c.2014T>G (p.Ser672Ala) c.2275T>G (p.Ser759Ala) c.2245T>G (p.Ser749Ala) c.1762T>G (p.Ser588Ala) c.1657T>G (p.Ser553Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122284199T= | CA1397871886 | CASR | c.2014T= (p.Ser672=) c.2275T= (p.Ser759=) c.2245T= (p.Ser749=) c.1762T= (p.Ser588=) c.1657T= (p.Ser553=) | |
| 3 | g.122284199_122284200del | CA1052944786 | CASR | c.2014_2015del (p.Ser672LysfsTer10) c.2275_2276del (p.Ser759LysfsTer10) c.2245_2246del (p.Ser749LysfsTer10) c.1762_1763del (p.Ser588LysfsTer10) c.1657_1658del (p.Ser553LysfsTer10) | gnomAD v3 gnomAD v4 |
| 3 | g.122284200C>A | CA354159172 | CASR | c.2015C>A (p.Ser672Ter) c.2276C>A (p.Ser759Ter) c.2246C>A (p.Ser749Ter) c.1763C>A (p.Ser588Ter) c.1658C>A (p.Ser553Ter) | |
| 3 | g.122284200C>G | CA354159173 | CASR | c.2015C>G (p.Ser672Ter) c.2276C>G (p.Ser759Ter) c.2246C>G (p.Ser749Ter) c.1763C>G (p.Ser588Ter) c.1658C>G (p.Ser553Ter) | |
| 3 | g.122284200C>T | CA354159174 | CASR | c.2015C>T (p.Ser672Leu) c.2276C>T (p.Ser759Leu) c.2246C>T (p.Ser749Leu) c.1763C>T (p.Ser588Leu) c.1658C>T (p.Ser553Leu) | |
| 3 | g.122284201A= | CA1397871888 | CASR | c.2016A= (p.Ser672=) c.2277A= (p.Ser759=) c.2247A= (p.Ser749=) c.1764A= (p.Ser588=) c.1659A= (p.Ser553=) | |
| 3 | g.122284201A>C | CA435424767 | CASR | c.2016A>C (p.Ser672=) c.2277A>C (p.Ser759=) c.2247A>C (p.Ser749=) c.1764A>C (p.Ser588=) c.1659A>C (p.Ser553=) | ClinVar dbSNP |
| 3 | g.122284201A>G | CA2569804 | CASR | c.2016A>G (p.Ser672=) c.2277A>G (p.Ser759=) c.2247A>G (p.Ser749=) c.1764A>G (p.Ser588=) c.1659A>G (p.Ser553=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.122284201A>T | CA435424768 | CASR | c.2016A>T (p.Ser672=) c.2277A>T (p.Ser759=) c.2247A>T (p.Ser749=) c.1764A>T (p.Ser588=) c.1659A>T (p.Ser553=) | |
| 3 | g.122284202A>C | CA354159175 | CASR | c.2017A>C (p.Ser673Arg) c.2278A>C (p.Ser760Arg) c.2248A>C (p.Ser750Arg) c.1765A>C (p.Ser589Arg) c.1660A>C (p.Ser554Arg) | |
| 3 | g.122284202A>G | CA354159176 | CASR | c.2017A>G (p.Ser673Gly) c.2278A>G (p.Ser760Gly) c.2248A>G (p.Ser750Gly) c.1765A>G (p.Ser589Gly) c.1660A>G (p.Ser554Gly) | ClinVar |
| 3 | g.122284202A>T | CA354159177 | CASR | c.2017A>T (p.Ser673Cys) c.2278A>T (p.Ser760Cys) c.2248A>T (p.Ser750Cys) c.1765A>T (p.Ser589Cys) c.1660A>T (p.Ser554Cys) | |
| 3 | g.122284203G>A | CA354159178 | CASR | c.2018G>A (p.Ser673Asn) c.2279G>A (p.Ser760Asn) c.2249G>A (p.Ser750Asn) c.1766G>A (p.Ser589Asn) c.1661G>A (p.Ser554Asn) | |
| 3 | g.122284203G>C | CA354159179 | CASR | c.2018G>C (p.Ser673Thr) c.2279G>C (p.Ser760Thr) c.2249G>C (p.Ser750Thr) c.1766G>C (p.Ser589Thr) c.1661G>C (p.Ser554Thr) | |
| 3 | g.122284203G>T | CA354159180 | CASR | c.2018G>T (p.Ser673Ile) c.2279G>T (p.Ser760Ile) c.2249G>T (p.Ser750Ile) c.1766G>T (p.Ser589Ile) c.1661G>T (p.Ser554Ile) | |
| 3 | g.122284204C>A | CA354159181 | CASR | c.2019C>A (p.Ser673Arg) c.2280C>A (p.Ser760Arg) c.2250C>A (p.Ser750Arg) c.1767C>A (p.Ser589Arg) c.1662C>A (p.Ser554Arg) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122284204C= | CA1397871895 | CASR | c.2019C= (p.Ser673=) c.2280C= (p.Ser760=) c.2250C= (p.Ser750=) c.1767C= (p.Ser589=) c.1662C= (p.Ser554=) | |
| 3 | g.122284204C>G | CA354159182 | CASR | c.2019C>G (p.Ser673Arg) c.2280C>G (p.Ser760Arg) c.2250C>G (p.Ser750Arg) c.1767C>G (p.Ser589Arg) c.1662C>G (p.Ser554Arg) | |
| 3 | g.122284204C>T | CA435424772 | CASR | c.2019C>T (p.Ser673=) c.2280C>T (p.Ser760=) c.2250C>T (p.Ser750=) c.1767C>T (p.Ser589=) c.1662C>T (p.Ser554=) | ClinVar dbSNP |