Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.122283689G>A | CA354157066 | CASR | c.1504G>A (p.Ala502Thr) c.1765G>A (p.Ala589Thr) c.1735G>A (p.Ala579Thr) c.1252G>A (p.Ala418Thr) c.1147G>A (p.Ala383Thr) | COSMIC |
3 | g.122283689G>C | CA354157068 | CASR | c.1504G>C (p.Ala502Pro) c.1765G>C (p.Ala589Pro) c.1735G>C (p.Ala579Pro) c.1252G>C (p.Ala418Pro) c.1147G>C (p.Ala383Pro) | |
3 | g.122283689G>T | CA354157070 | CASR | c.1504G>T (p.Ala502Ser) c.1765G>T (p.Ala589Ser) c.1735G>T (p.Ala579Ser) c.1252G>T (p.Ala418Ser) c.1147G>T (p.Ala383Ser) | |
3 | g.122283690C>A | CA354157072 | CASR | c.1505C>A (p.Ala502Asp) c.1766C>A (p.Ala589Asp) c.1736C>A (p.Ala579Asp) c.1253C>A (p.Ala418Asp) c.1148C>A (p.Ala383Asp) | |
3 | g.122283690C= | CA1397870803 | CASR | c.1505C= (p.Ala502=) c.1766C= (p.Ala589=) c.1736C= (p.Ala579=) c.1253C= (p.Ala418=) c.1148C= (p.Ala383=) | |
3 | g.122283690C>G | CA354157074 | CASR | c.1505C>G (p.Ala502Gly) c.1766C>G (p.Ala589Gly) c.1736C>G (p.Ala579Gly) c.1253C>G (p.Ala418Gly) c.1148C>G (p.Ala383Gly) | |
3 | g.122283690C>T | CA82748525 | CASR | c.1505C>T (p.Ala502Val) c.1766C>T (p.Ala589Val) c.1736C>T (p.Ala579Val) c.1253C>T (p.Ala418Val) c.1148C>T (p.Ala383Val) | dbSNP |
3 | g.122283691C>A | CA435251682 | CASR | c.1506C>A (p.Ala502=) c.1767C>A (p.Ala589=) c.1737C>A (p.Ala579=) c.1254C>A (p.Ala418=) c.1149C>A (p.Ala383=) | |
3 | g.122283691C>G | CA435251683 | CASR | c.1506C>G (p.Ala502=) c.1767C>G (p.Ala589=) c.1737C>G (p.Ala579=) c.1254C>G (p.Ala418=) c.1149C>G (p.Ala383=) | |
3 | g.122283691C>T | CA435251684 | CASR | c.1506C>T (p.Ala502=) c.1767C>T (p.Ala589=) c.1737C>T (p.Ala579=) c.1254C>T (p.Ala418=) c.1149C>T (p.Ala383=) | |
3 | g.122283692A>C | CA354157079 | CASR | c.1507A>C (p.Ser503Arg) c.1768A>C (p.Ser590Arg) c.1738A>C (p.Ser580Arg) c.1255A>C (p.Ser419Arg) c.1150A>C (p.Ser384Arg) | |
3 | g.122283692A>G | CA354157081 | CASR | c.1507A>G (p.Ser503Gly) c.1768A>G (p.Ser590Gly) c.1738A>G (p.Ser580Gly) c.1255A>G (p.Ser419Gly) c.1150A>G (p.Ser384Gly) | |
3 | g.122283692A>T | CA354157082 | CASR | c.1507A>T (p.Ser503Cys) c.1768A>T (p.Ser590Cys) c.1738A>T (p.Ser580Cys) c.1255A>T (p.Ser419Cys) c.1150A>T (p.Ser384Cys) | |
3 | g.122283693G>A | CA354157087 | CASR | c.1508G>A (p.Ser503Asn) c.1769G>A (p.Ser590Asn) c.1739G>A (p.Ser580Asn) c.1256G>A (p.Ser419Asn) c.1151G>A (p.Ser384Asn) | ClinVar |
3 | g.122283693G>C | CA354157089 | CASR | c.1508G>C (p.Ser503Thr) c.1769G>C (p.Ser590Thr) c.1739G>C (p.Ser580Thr) c.1256G>C (p.Ser419Thr) c.1151G>C (p.Ser384Thr) | |
3 | g.122283693G>T | CA354157085 | CASR | c.1508G>T (p.Ser503Ile) c.1769G>T (p.Ser590Ile) c.1739G>T (p.Ser580Ile) c.1256G>T (p.Ser419Ile) c.1151G>T (p.Ser384Ile) | |
3 | g.122283694T>A | CA354157092 | CASR | c.1509T>A (p.Ser503Arg) c.1770T>A (p.Ser590Arg) c.1740T>A (p.Ser580Arg) c.1257T>A (p.Ser419Arg) c.1152T>A (p.Ser384Arg) | |
3 | g.122283694T>C | CA435251688 | CASR | c.1509T>C (p.Ser503=) c.1770T>C (p.Ser590=) c.1740T>C (p.Ser580=) c.1257T>C (p.Ser419=) c.1152T>C (p.Ser384=) | |
3 | g.122283694T>G | CA354157094 | CASR | c.1509T>G (p.Ser503Arg) c.1770T>G (p.Ser590Arg) c.1740T>G (p.Ser580Arg) c.1257T>G (p.Ser419Arg) c.1152T>G (p.Ser384Arg) | |
3 | g.122283695G>A | CA354157097 | CASR | c.1510G>A (p.Ala504Thr) c.1771G>A (p.Ala591Thr) c.1741G>A (p.Ala581Thr) c.1258G>A (p.Ala420Thr) c.1153G>A (p.Ala385Thr) | |
3 | g.122283695G>C | CA354157099 | CASR | c.1510G>C (p.Ala504Pro) c.1771G>C (p.Ala591Pro) c.1741G>C (p.Ala581Pro) c.1258G>C (p.Ala420Pro) c.1153G>C (p.Ala385Pro) | |
3 | g.122283695G>T | CA354157101 | CASR | c.1510G>T (p.Ala504Ser) c.1771G>T (p.Ala591Ser) c.1741G>T (p.Ala581Ser) c.1258G>T (p.Ala420Ser) c.1153G>T (p.Ala385Ser) | |
3 | g.122283696C>A | CA354157104 | CASR | c.1511C>A (p.Ala504Asp) c.1772C>A (p.Ala591Asp) c.1742C>A (p.Ala581Asp) c.1259C>A (p.Ala420Asp) c.1154C>A (p.Ala385Asp) | |
3 | g.122283696C>G | CA354157106 | CASR | c.1511C>G (p.Ala504Gly) c.1772C>G (p.Ala591Gly) c.1742C>G (p.Ala581Gly) c.1259C>G (p.Ala420Gly) c.1154C>G (p.Ala385Gly) | |
3 | g.122283696C>T | CA354157107 | CASR | c.1511C>T (p.Ala504Val) c.1772C>T (p.Ala591Val) c.1742C>T (p.Ala581Val) c.1259C>T (p.Ala420Val) c.1154C>T (p.Ala385Val) | |
3 | g.122283697C>A | CA435251689 | CASR | c.1512C>A (p.Ala504=) c.1773C>A (p.Ala591=) c.1743C>A (p.Ala581=) c.1260C>A (p.Ala420=) c.1155C>A (p.Ala385=) | |
3 | g.122283697C>G | CA435251690 | CASR | c.1512C>G (p.Ala504=) c.1773C>G (p.Ala591=) c.1743C>G (p.Ala581=) c.1260C>G (p.Ala420=) c.1155C>G (p.Ala385=) | gnomAD v4 |
3 | g.122283697C>T | CA435251691 | CASR | c.1512C>T (p.Ala504=) c.1773C>T (p.Ala591=) c.1743C>T (p.Ala581=) c.1260C>T (p.Ala420=) c.1155C>T (p.Ala385=) | ClinVar COSMIC |
3 | g.122283698T>A | CA354157111 | CASR | c.1513T>A (p.Cys505Ser) c.1774T>A (p.Cys592Ser) c.1744T>A (p.Cys582Ser) c.1261T>A (p.Cys421Ser) c.1156T>A (p.Cys386Ser) | ClinVar dbSNP |
3 | g.122283698T>C | CA354157112 | CASR | c.1513T>C (p.Cys505Arg) c.1774T>C (p.Cys592Arg) c.1744T>C (p.Cys582Arg) c.1261T>C (p.Cys421Arg) c.1156T>C (p.Cys386Arg) | ClinVar |
3 | g.122283698T>G | CA354157115 | CASR | c.1513T>G (p.Cys505Gly) c.1774T>G (p.Cys592Gly) c.1744T>G (p.Cys582Gly) c.1261T>G (p.Cys421Gly) c.1156T>G (p.Cys386Gly) | |
3 | g.122283698T= | CA1397870807 | CASR | c.1513T= (p.Cys505=) c.1774T= (p.Cys592=) c.1744T= (p.Cys582=) c.1261T= (p.Cys421=) c.1156T= (p.Cys386=) | |
3 | g.122283699G>A | CA119477 | CASR | c.1514G>A (p.Cys505Tyr) c.1775G>A (p.Cys592Tyr) c.1745G>A (p.Cys582Tyr) c.1262G>A (p.Cys421Tyr) c.1157G>A (p.Cys386Tyr) | ClinVar dbSNP gnomAD v4 |
3 | g.122283699G>C | CA354157119 | CASR | c.1514G>C (p.Cys505Ser) c.1775G>C (p.Cys592Ser) c.1745G>C (p.Cys582Ser) c.1262G>C (p.Cys421Ser) c.1157G>C (p.Cys386Ser) | |
3 | g.122283699G= | CA1397870814 | CASR | c.1514G= (p.Cys505=) c.1775G= (p.Cys592=) c.1745G= (p.Cys582=) c.1262G= (p.Cys421=) c.1157G= (p.Cys386=) | |
3 | g.122283699G>T | CA119545 | CASR | c.1514G>T (p.Cys505Phe) c.1775G>T (p.Cys592Phe) c.1745G>T (p.Cys582Phe) c.1262G>T (p.Cys421Phe) c.1157G>T (p.Cys386Phe) | ClinVar dbSNP |
3 | g.122283700T>A | CA354157125 | CASR | c.1515T>A (p.Cys505Ter) c.1776T>A (p.Cys592Ter) c.1746T>A (p.Cys582Ter) c.1263T>A (p.Cys421Ter) c.1158T>A (p.Cys386Ter) | |
3 | g.122283700T>C | CA435251694 | CASR | c.1515T>C (p.Cys505=) c.1776T>C (p.Cys592=) c.1746T>C (p.Cys582=) c.1263T>C (p.Cys421=) c.1158T>C (p.Cys386=) | |
3 | g.122283700T>G | CA354157123 | CASR | c.1515T>G (p.Cys505Trp) c.1776T>G (p.Cys592Trp) c.1746T>G (p.Cys582Trp) c.1263T>G (p.Cys421Trp) c.1158T>G (p.Cys386Trp) | |
3 | g.122283700dup | CA2586972856 | CASR | c.1515dup (p.Asn506Ter) c.1776dup (p.Asn593Ter) c.1746dup (p.Asn583Ter) c.1263dup (p.Asn422Ter) c.1158dup (p.Asn387Ter) | |
3 | g.122283701A>C | CA354157127 | CASR | c.1516A>C (p.Asn506His) c.1777A>C (p.Asn593His) c.1747A>C (p.Asn583His) c.1264A>C (p.Asn422His) c.1159A>C (p.Asn387His) | |
3 | g.122283701A>G | CA354157128 | CASR | c.1516A>G (p.Asn506Asp) c.1777A>G (p.Asn593Asp) c.1747A>G (p.Asn583Asp) c.1264A>G (p.Asn422Asp) c.1159A>G (p.Asn387Asp) | ClinVar COSMIC |
3 | g.122283701A>T | CA354157130 | CASR | c.1516A>T (p.Asn506Tyr) c.1777A>T (p.Asn593Tyr) c.1747A>T (p.Asn583Tyr) c.1264A>T (p.Asn422Tyr) c.1159A>T (p.Asn387Tyr) | |
3 | g.122283702A= | CA1397870824 | CASR | c.1517A= (p.Asn506=) c.1778A= (p.Asn593=) c.1748A= (p.Asn583=) c.1265A= (p.Asn422=) c.1160A= (p.Asn387=) | |
3 | g.122283702A>C | CA354157132 | CASR | c.1517A>C (p.Asn506Thr) c.1778A>C (p.Asn593Thr) c.1748A>C (p.Asn583Thr) c.1265A>C (p.Asn422Thr) c.1160A>C (p.Asn387Thr) | |
3 | g.122283702A>G | CA354157134 | CASR | c.1517A>G (p.Asn506Ser) c.1778A>G (p.Asn593Ser) c.1748A>G (p.Asn583Ser) c.1265A>G (p.Asn422Ser) c.1160A>G (p.Asn387Ser) | ClinVar dbSNP gnomAD v4 |
3 | g.122283702A>T | CA354157136 | CASR | c.1517A>T (p.Asn506Ile) c.1778A>T (p.Asn593Ile) c.1748A>T (p.Asn583Ile) c.1265A>T (p.Asn422Ile) c.1160A>T (p.Asn387Ile) | |
3 | g.122283703C>A | CA354157140 | CASR | c.1518C>A (p.Asn506Lys) c.1779C>A (p.Asn593Lys) c.1749C>A (p.Asn583Lys) c.1266C>A (p.Asn422Lys) c.1161C>A (p.Asn387Lys) | |
3 | g.122283703C>G | CA354157138 | CASR | c.1518C>G (p.Asn506Lys) c.1779C>G (p.Asn593Lys) c.1749C>G (p.Asn583Lys) c.1266C>G (p.Asn422Lys) c.1161C>G (p.Asn387Lys) | |
3 | g.122283703C>T | CA435251697 | CASR | c.1518C>T (p.Asn506=) c.1779C>T (p.Asn593=) c.1749C>T (p.Asn583=) c.1266C>T (p.Asn422=) c.1161C>T (p.Asn387=) | ClinVar |