| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.122283669C>A | CA2667223791 | CASR | c.1502-18C>A (n.1502-18C>A) c.1763-18C>A (n.1763-18C>A) c.1733-18C>A (n.1733-18C>A) c.1250-18C>A (n.1250-18C>A) c.1145-18C>A (n.1145-18C>A) | gnomAD v4 |
| 3 | g.122283671C>A | CA82748515 | CASR | c.1502-16C>A (n.1502-16C>A) c.1763-16C>A (n.1763-16C>A) c.1733-16C>A (n.1733-16C>A) c.1250-16C>A (n.1250-16C>A) c.1145-16C>A (n.1145-16C>A) | dbSNP gnomAD v4 |
| 3 | g.122283671C= | CA1397870779 | CASR | c.1502-16C= (n.1502-16C=) c.1763-16C= (n.1763-16C=) c.1733-16C= (n.1733-16C=) c.1250-16C= (n.1250-16C=) c.1145-16C= (n.1145-16C=) | |
| 3 | g.122283671C>T | CA2667223794 | CASR | c.1502-16C>T (n.1502-16C>T) c.1763-16C>T (n.1763-16C>T) c.1733-16C>T (n.1733-16C>T) c.1250-16C>T (n.1250-16C>T) c.1145-16C>T (n.1145-16C>T) | ClinVar gnomAD v4 |
| 3 | g.122283672T>C | CA2667223797 | CASR | c.1502-15T>C (n.1502-15T>C) c.1763-15T>C (n.1763-15T>C) c.1733-15T>C (n.1733-15T>C) c.1250-15T>C (n.1250-15T>C) c.1145-15T>C (n.1145-15T>C) | gnomAD v4 |
| 3 | g.122283672T>G | CA2667223799 | CASR | c.1502-15T>G (n.1502-15T>G) c.1763-15T>G (n.1763-15T>G) c.1733-15T>G (n.1733-15T>G) c.1250-15T>G (n.1250-15T>G) c.1145-15T>G (n.1145-15T>G) | gnomAD v4 |
| 3 | g.122283673G>T | CA2577870120 | CASR | c.1502-14G>T (n.1502-14G>T) c.1763-14G>T (n.1763-14G>T) c.1733-14G>T (n.1733-14G>T) c.1250-14G>T (n.1250-14G>T) c.1145-14G>T (n.1145-14G>T) | |
| 3 | g.122283674G>A | CA1397870781 | CASR | c.1502-13G>A (n.1502-13G>A) c.1763-13G>A (n.1763-13G>A) c.1733-13G>A (n.1733-13G>A) c.1250-13G>A (n.1250-13G>A) c.1145-13G>A (n.1145-13G>A) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122283674G>C | CA2569738 | CASR | c.1502-13G>C (n.1502-13G>C) c.1763-13G>C (n.1763-13G>C) c.1733-13G>C (n.1733-13G>C) c.1250-13G>C (n.1250-13G>C) c.1145-13G>C (n.1145-13G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122283674G= | CA1397870782 | CASR | c.1502-13G= (n.1502-13G=) c.1763-13G= (n.1763-13G=) c.1733-13G= (n.1733-13G=) c.1250-13G= (n.1250-13G=) c.1145-13G= (n.1145-13G=) | |
| 3 | g.122283675G>A | CA2573136444 | CASR | c.1502-12G>A (n.1502-12G>A) c.1763-12G>A (n.1763-12G>A) c.1733-12G>A (n.1733-12G>A) c.1250-12G>A (n.1250-12G>A) c.1145-12G>A (n.1145-12G>A) | ClinVar dbSNP |
| 3 | g.122283676A= | CA1397870783 | CASR | c.1502-11A= (n.1502-11A=) c.1763-11A= (n.1763-11A=) c.1733-11A= (n.1733-11A=) c.1250-11A= (n.1250-11A=) c.1145-11A= (n.1145-11A=) | |
| 3 | g.122283676A>G | CA2569739 | CASR | c.1502-11A>G (n.1502-11A>G) c.1763-11A>G (n.1763-11A>G) c.1733-11A>G (n.1733-11A>G) c.1250-11A>G (n.1250-11A>G) c.1145-11A>G (n.1145-11A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.122283676A>T | CA545962806 | CASR | c.1502-11A>T (n.1502-11A>T) c.1763-11A>T (n.1763-11A>T) c.1733-11A>T (n.1733-11A>T) c.1250-11A>T (n.1250-11A>T) c.1145-11A>T (n.1145-11A>T) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.122283677C= | CA1397870786 | CASR | c.1502-10C= (n.1502-10C=) c.1763-10C= (n.1763-10C=) c.1733-10C= (n.1733-10C=) c.1250-10C= (n.1250-10C=) c.1145-10C= (n.1145-10C=) | |
| 3 | g.122283677C>T | CA1397870789 | CASR | c.1502-10C>T (n.1502-10C>T) c.1763-10C>T (n.1763-10C>T) c.1733-10C>T (n.1733-10C>T) c.1250-10C>T (n.1250-10C>T) c.1145-10C>T (n.1145-10C>T) | ClinVar dbSNP |
| 3 | g.122283678A= | CA1397870790 | CASR | c.1502-9A= (n.1502-9A=) c.1763-9A= (n.1763-9A=) c.1733-9A= (n.1733-9A=) c.1250-9A= (n.1250-9A=) c.1145-9A= (n.1145-9A=) | |
| 3 | g.122283678A>G | CA2569740 | CASR | c.1502-9A>G (n.1502-9A>G) c.1763-9A>G (n.1763-9A>G) c.1733-9A>G (n.1733-9A>G) c.1250-9A>G (n.1250-9A>G) c.1145-9A>G (n.1145-9A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122283680T>A | CA916082594 | CASR | c.1502-7T>A (n.1502-7T>A) c.1763-7T>A (n.1763-7T>A) c.1733-7T>A (n.1733-7T>A) c.1250-7T>A (n.1250-7T>A) c.1145-7T>A (n.1145-7T>A) | ClinVar dbSNP |
| 3 | g.122283680T= | CA1397870791 | CASR | c.1502-7T= (n.1502-7T=) c.1763-7T= (n.1763-7T=) c.1733-7T= (n.1733-7T=) c.1250-7T= (n.1250-7T=) c.1145-7T= (n.1145-7T=) | |
| 3 | g.122283683A= | CA1397870793 | CASR | c.1502-4A= (n.1502-4A=) c.1763-4A= (n.1763-4A=) c.1733-4A= (n.1733-4A=) c.1250-4A= (n.1250-4A=) c.1145-4A= (n.1145-4A=) | |
| 3 | g.122283683A>G | CA82748524 | CASR | c.1502-4A>G (n.1502-4A>G) c.1763-4A>G (n.1763-4A>G) c.1733-4A>G (n.1733-4A>G) c.1250-4A>G (n.1250-4A>G) c.1145-4A>G (n.1145-4A>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122283685A>C | CA354157048 | CASR | c.1502-2A>C (n.1502-2A>C) c.1763-2A>C (n.1763-2A>C) c.1733-2A>C (n.1733-2A>C) c.1250-2A>C (n.1250-2A>C) c.1145-2A>C (n.1145-2A>C) | ClinVar |
| 3 | g.122283685A>G | CA354157049 | CASR | c.1502-2A>G (n.1502-2A>G) c.1763-2A>G (n.1763-2A>G) c.1733-2A>G (n.1733-2A>G) c.1250-2A>G (n.1250-2A>G) c.1145-2A>G (n.1145-2A>G) | |
| 3 | g.122283685A>T | CA354157050 | CASR | c.1502-2A>T (n.1502-2A>T) c.1763-2A>T (n.1763-2A>T) c.1733-2A>T (n.1733-2A>T) c.1250-2A>T (n.1250-2A>T) c.1145-2A>T (n.1145-2A>T) | |
| 3 | g.122283686G>A | CA354157051 | CASR | c.1502-1G>A (n.1502-1G>A) c.1763-1G>A (n.1763-1G>A) c.1733-1G>A (n.1733-1G>A) c.1250-1G>A (n.1250-1G>A) c.1145-1G>A (n.1145-1G>A) | |
| 3 | g.122283686G>C | CA354157052 | CASR | c.1502-1G>C (n.1502-1G>C) c.1763-1G>C (n.1763-1G>C) c.1733-1G>C (n.1733-1G>C) c.1250-1G>C (n.1250-1G>C) c.1145-1G>C (n.1145-1G>C) | COSMIC |
| 3 | g.122283686G>T | CA354157053 | CASR | c.1502-1G>T (n.1502-1G>T) c.1763-1G>T (n.1763-1G>T) c.1733-1G>T (n.1733-1G>T) c.1250-1G>T (n.1250-1G>T) c.1145-1G>T (n.1145-1G>T) | |
| 3 | g.122283687A>C | CA354157056 | CASR | c.1502A>C (p.Asp501Ala) c.1763A>C (p.Asp588Ala) c.1733A>C (p.Asp578Ala) c.1250A>C (p.Asp417Ala) c.1145A>C (p.Asp382Ala) | |
| 3 | g.122283687A>G | CA354157059 | CASR | c.1502A>G (p.Asp501Gly) c.1763A>G (p.Asp588Gly) c.1733A>G (p.Asp578Gly) c.1250A>G (p.Asp417Gly) c.1145A>G (p.Asp382Gly) | ClinVar dbSNP |
| 3 | g.122283687A>T | CA354157058 | CASR | c.1502A>T (p.Asp501Val) c.1763A>T (p.Asp588Val) c.1733A>T (p.Asp578Val) c.1250A>T (p.Asp417Val) c.1145A>T (p.Asp382Val) | ClinVar |
| 3 | g.122283688T>A | CA354157061 | CASR | c.1503T>A (p.Asp501Glu) c.1764T>A (p.Asp588Glu) c.1734T>A (p.Asp578Glu) c.1251T>A (p.Asp417Glu) c.1146T>A (p.Asp382Glu) | |
| 3 | g.122283688T>C | CA435251679 | CASR | c.1503T>C (p.Asp501=) c.1764T>C (p.Asp588=) c.1734T>C (p.Asp578=) c.1251T>C (p.Asp417=) c.1146T>C (p.Asp382=) | ClinVar gnomAD v4 |
| 3 | g.122283688T>G | CA354157064 | CASR | c.1503T>G (p.Asp501Glu) c.1764T>G (p.Asp588Glu) c.1734T>G (p.Asp578Glu) c.1251T>G (p.Asp417Glu) c.1146T>G (p.Asp382Glu) | |
| 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 |
| 3 | g.122283704A= | CA1397870830 | CASR | c.1519A= (p.Lys507=) c.1780A= (p.Lys594=) c.1750A= (p.Lys584=) c.1267A= (p.Lys423=) c.1162A= (p.Lys388=) | |
| 3 | g.122283704A>C | CA354157144 | CASR | c.1519A>C (p.Lys507Gln) c.1780A>C (p.Lys594Gln) c.1750A>C (p.Lys584Gln) c.1267A>C (p.Lys423Gln) c.1162A>C (p.Lys388Gln) | |
| 3 | g.122283704A>G | CA354157146 | CASR | c.1519A>G (p.Lys507Glu) c.1780A>G (p.Lys594Glu) c.1750A>G (p.Lys584Glu) c.1267A>G (p.Lys423Glu) c.1162A>G (p.Lys388Glu) | |
| 3 | g.122283704A>T | CA16604350 | CASR | c.1519A>T (p.Lys507Ter) c.1780A>T (p.Lys594Ter) c.1750A>T (p.Lys584Ter) c.1267A>T (p.Lys423Ter) c.1162A>T (p.Lys388Ter) | ClinVar dbSNP |
| 3 | g.122283705A= | CA1397870834 | CASR | c.1520A= (p.Lys507=) c.1781A= (p.Lys594=) c.1751A= (p.Lys584=) c.1268A= (p.Lys423=) c.1163A= (p.Lys388=) | |
| 3 | g.122283705A>C | CA354157149 | CASR | c.1520A>C (p.Lys507Thr) c.1781A>C (p.Lys594Thr) c.1751A>C (p.Lys584Thr) c.1268A>C (p.Lys423Thr) c.1163A>C (p.Lys388Thr) | ClinVar |
| 3 | g.122283705A>G | CA354157152 | CASR | c.1520A>G (p.Lys507Arg) c.1781A>G (p.Lys594Arg) c.1751A>G (p.Lys584Arg) c.1268A>G (p.Lys423Arg) c.1163A>G (p.Lys388Arg) | dbSNP gnomAD v2 |
| 3 | g.122283705A>T | CA354157153 | CASR | c.1520A>T (p.Lys507Met) c.1781A>T (p.Lys594Met) c.1751A>T (p.Lys584Met) c.1268A>T (p.Lys423Met) c.1163A>T (p.Lys388Met) | |
| 3 | g.122283706G>A | CA2569741 | CASR | c.1521G>A (p.Lys507=) c.1782G>A (p.Lys594=) c.1752G>A (p.Lys584=) c.1269G>A (p.Lys423=) c.1164G>A (p.Lys388=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122283706G>C | CA354157159 | CASR | c.1521G>C (p.Lys507Asn) c.1782G>C (p.Lys594Asn) c.1752G>C (p.Lys584Asn) c.1269G>C (p.Lys423Asn) c.1164G>C (p.Lys388Asn) | |
| 3 | g.122283706G= | CA1397870837 | CASR | c.1521G= (p.Lys507=) c.1782G= (p.Lys594=) c.1752G= (p.Lys584=) c.1269G= (p.Lys423=) c.1164G= (p.Lys388=) | |
| 3 | g.122283706G>T | CA354157157 | CASR | c.1521G>T (p.Lys507Asn) c.1782G>T (p.Lys594Asn) c.1752G>T (p.Lys584Asn) c.1269G>T (p.Lys423Asn) c.1164G>T (p.Lys388Asn) | |
| 3 | g.122283707T>A | CA354157162 | CASR | c.1522T>A (p.Cys508Ser) c.1783T>A (p.Cys595Ser) c.1753T>A (p.Cys585Ser) c.1270T>A (p.Cys424Ser) c.1165T>A (p.Cys389Ser) | ClinVar |
| 3 | g.122283707T>C | CA354157163 | CASR | c.1522T>C (p.Cys508Arg) c.1783T>C (p.Cys595Arg) c.1753T>C (p.Cys585Arg) c.1270T>C (p.Cys424Arg) c.1165T>C (p.Cys389Arg) | |
| 3 | g.122283707T>G | CA354157165 | CASR | c.1522T>G (p.Cys508Gly) c.1783T>G (p.Cys595Gly) c.1753T>G (p.Cys585Gly) c.1270T>G (p.Cys424Gly) c.1165T>G (p.Cys389Gly) | |
| 3 | g.122283708G>A | CA354157168 | CASR | c.1523G>A (p.Cys508Tyr) c.1784G>A (p.Cys595Tyr) c.1754G>A (p.Cys585Tyr) c.1271G>A (p.Cys424Tyr) c.1166G>A (p.Cys389Tyr) | |
| 3 | g.122283708G>C | CA354157171 | CASR | c.1523G>C (p.Cys508Ser) c.1784G>C (p.Cys595Ser) c.1754G>C (p.Cys585Ser) c.1271G>C (p.Cys424Ser) c.1166G>C (p.Cys389Ser) | |
| 3 | g.122283708G>T | CA354157173 | CASR | c.1523G>T (p.Cys508Phe) c.1784G>T (p.Cys595Phe) c.1754G>T (p.Cys585Phe) c.1271G>T (p.Cys424Phe) c.1166G>T (p.Cys389Phe) | COSMIC |
| 3 | g.122283709C>A | CA354157177 | CASR | c.1524C>A (p.Cys508Ter) c.1785C>A (p.Cys595Ter) c.1755C>A (p.Cys585Ter) c.1272C>A (p.Cys424Ter) c.1167C>A (p.Cys389Ter) | |
| 3 | g.122283709C>G | CA354157176 | CASR | c.1524C>G (p.Cys508Trp) c.1785C>G (p.Cys595Trp) c.1755C>G (p.Cys585Trp) c.1272C>G (p.Cys424Trp) c.1167C>G (p.Cys389Trp) | ClinVar |
| 3 | g.122283709C>T | CA435251704 | CASR | c.1524C>T (p.Cys508=) c.1785C>T (p.Cys595=) c.1755C>T (p.Cys585=) c.1272C>T (p.Cys424=) c.1167C>T (p.Cys389=) | |
| 3 | g.122283710C>A | CA354157181 | CASR | c.1525C>A (p.Pro509Thr) c.1786C>A (p.Pro596Thr) c.1756C>A (p.Pro586Thr) c.1273C>A (p.Pro425Thr) c.1168C>A (p.Pro390Thr) | |
| 3 | g.122283710C>G | CA354157182 | CASR | c.1525C>G (p.Pro509Ala) c.1786C>G (p.Pro596Ala) c.1756C>G (p.Pro586Ala) c.1273C>G (p.Pro425Ala) c.1168C>G (p.Pro390Ala) | |
| 3 | g.122283710C>T | CA354157184 | CASR | c.1525C>T (p.Pro509Ser) c.1786C>T (p.Pro596Ser) c.1756C>T (p.Pro586Ser) c.1273C>T (p.Pro425Ser) c.1168C>T (p.Pro390Ser) | |
| 3 | g.122283711C>A | CA354157187 | CASR | c.1526C>A (p.Pro509Gln) c.1787C>A (p.Pro596Gln) c.1757C>A (p.Pro586Gln) c.1274C>A (p.Pro425Gln) c.1169C>A (p.Pro390Gln) | |
| 3 | g.122283711C>G | CA354157189 | CASR | c.1526C>G (p.Pro509Arg) c.1787C>G (p.Pro596Arg) c.1757C>G (p.Pro586Arg) c.1274C>G (p.Pro425Arg) c.1169C>G (p.Pro390Arg) | |
| 3 | g.122283711C>T | CA354157191 | CASR | c.1526C>T (p.Pro509Leu) c.1787C>T (p.Pro596Leu) c.1757C>T (p.Pro586Leu) c.1274C>T (p.Pro425Leu) c.1169C>T (p.Pro390Leu) | |
| 3 | g.122283712A>C | CA435251846 | CASR | c.1527A>C (p.Pro509=) c.1788A>C (p.Pro596=) c.1758A>C (p.Pro586=) c.1275A>C (p.Pro425=) c.1170A>C (p.Pro390=) | |
| 3 | g.122283712A>G | CA435251847 | CASR | c.1527A>G (p.Pro509=) c.1788A>G (p.Pro596=) c.1758A>G (p.Pro586=) c.1275A>G (p.Pro425=) c.1170A>G (p.Pro390=) | ClinVar |
| 3 | g.122283712A>T | CA435251848 | CASR | c.1527A>T (p.Pro509=) c.1788A>T (p.Pro596=) c.1758A>T (p.Pro586=) c.1275A>T (p.Pro425=) c.1170A>T (p.Pro390=) | |
| 3 | g.122283713G>A | CA354157193 | CASR | c.1528G>A (p.Asp510Asn) c.1789G>A (p.Asp597Asn) c.1759G>A (p.Asp587Asn) c.1276G>A (p.Asp426Asn) c.1171G>A (p.Asp391Asn) | |
| 3 | g.122283713G>C | CA354157198 | CASR | c.1528G>C (p.Asp510His) c.1789G>C (p.Asp597His) c.1759G>C (p.Asp587His) c.1276G>C (p.Asp426His) c.1171G>C (p.Asp391His) | |
| 3 | g.122283713G>T | CA354157196 | CASR | c.1528G>T (p.Asp510Tyr) c.1789G>T (p.Asp597Tyr) c.1759G>T (p.Asp587Tyr) c.1276G>T (p.Asp426Tyr) c.1171G>T (p.Asp391Tyr) | |
| 3 | g.122283713dup | CA2573136445 | CASR | c.1528dup (p.Asp510GlyfsTer2) c.1789dup (p.Asp597GlyfsTer2) c.1759dup (p.Asp587GlyfsTer2) c.1276dup (p.Asp426GlyfsTer2) c.1171dup (p.Asp391GlyfsTer2) | ClinVar dbSNP |
| 3 | g.122283714A>C | CA354157200 | CASR | c.1529A>C (p.Asp510Ala) c.1790A>C (p.Asp597Ala) c.1760A>C (p.Asp587Ala) c.1277A>C (p.Asp426Ala) c.1172A>C (p.Asp391Ala) | |
| 3 | g.122283714A>G | CA354157202 | CASR | c.1529A>G (p.Asp510Gly) c.1790A>G (p.Asp597Gly) c.1760A>G (p.Asp587Gly) c.1277A>G (p.Asp426Gly) c.1172A>G (p.Asp391Gly) | |
| 3 | g.122283714A>T | CA354157204 | CASR | c.1529A>T (p.Asp510Val) c.1790A>T (p.Asp597Val) c.1760A>T (p.Asp587Val) c.1277A>T (p.Asp426Val) c.1172A>T (p.Asp391Val) | |
| 3 | g.122283715T>A | CA354157207 | CASR | c.1530T>A (p.Asp510Glu) c.1791T>A (p.Asp597Glu) c.1761T>A (p.Asp587Glu) c.1278T>A (p.Asp426Glu) c.1173T>A (p.Asp391Glu) | ClinVar |
| 3 | g.122283715T>C | CA435251849 | CASR | c.1530T>C (p.Asp510=) c.1791T>C (p.Asp597=) c.1761T>C (p.Asp587=) c.1278T>C (p.Asp426=) c.1173T>C (p.Asp391=) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.122283715T>G | CA354157208 | CASR | c.1530T>G (p.Asp510Glu) c.1791T>G (p.Asp597Glu) c.1761T>G (p.Asp587Glu) c.1278T>G (p.Asp426Glu) c.1173T>G (p.Asp391Glu) | |
| 3 | g.122283715T= | CA1397870842 | CASR | c.1530T= (p.Asp510=) c.1791T= (p.Asp597=) c.1761T= (p.Asp587=) c.1278T= (p.Asp426=) c.1173T= (p.Asp391=) | |
| 3 | g.122283716G>A | CA354157212 | CASR | c.1531G>A (p.Asp511Asn) c.1792G>A (p.Asp598Asn) c.1762G>A (p.Asp588Asn) c.1279G>A (p.Asp427Asn) c.1174G>A (p.Asp392Asn) | gnomAD v4 |
| 3 | g.122283716G>C | CA354157214 | CASR | c.1531G>C (p.Asp511His) c.1792G>C (p.Asp598His) c.1762G>C (p.Asp588His) c.1279G>C (p.Asp427His) c.1174G>C (p.Asp392His) | gnomAD v4 |
| 3 | g.122283716G>T | CA354157216 | CASR | c.1531G>T (p.Asp511Tyr) c.1792G>T (p.Asp598Tyr) c.1762G>T (p.Asp588Tyr) c.1279G>T (p.Asp427Tyr) c.1174G>T (p.Asp392Tyr) | |
| 3 | g.122283717A>C | CA354157217 | CASR | c.1532A>C (p.Asp511Ala) c.1793A>C (p.Asp598Ala) c.1763A>C (p.Asp588Ala) c.1280A>C (p.Asp427Ala) c.1175A>C (p.Asp392Ala) | |
| 3 | g.122283717A>G | CA354157220 | CASR | c.1532A>G (p.Asp511Gly) c.1793A>G (p.Asp598Gly) c.1763A>G (p.Asp588Gly) c.1280A>G (p.Asp427Gly) c.1175A>G (p.Asp392Gly) | |
| 3 | g.122283717A>T | CA354157222 | CASR | c.1532A>T (p.Asp511Val) c.1793A>T (p.Asp598Val) c.1763A>T (p.Asp588Val) c.1280A>T (p.Asp427Val) c.1175A>T (p.Asp392Val) | |
| 3 | g.122283718C>A | CA354157227 | CASR | c.1533C>A (p.Asp511Glu) c.1794C>A (p.Asp598Glu) c.1764C>A (p.Asp588Glu) c.1281C>A (p.Asp427Glu) c.1176C>A (p.Asp392Glu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.122283718C= | CA1397870844 | CASR | c.1533C= (p.Asp511=) c.1794C= (p.Asp598=) c.1764C= (p.Asp588=) c.1281C= (p.Asp427=) c.1176C= (p.Asp392=) | |
| 3 | g.122283718C>G | CA354157225 | CASR | c.1533C>G (p.Asp511Glu) c.1794C>G (p.Asp598Glu) c.1764C>G (p.Asp588Glu) c.1281C>G (p.Asp427Glu) c.1176C>G (p.Asp392Glu) | |
| 3 | g.122283718C>T | CA435251850 | CASR | c.1533C>T (p.Asp511=) c.1794C>T (p.Asp598=) c.1764C>T (p.Asp588=) c.1281C>T (p.Asp427=) c.1176C>T (p.Asp392=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122283719T>A | CA354157229 | CASR | c.1534T>A (p.Phe512Ile) c.1795T>A (p.Phe599Ile) c.1765T>A (p.Phe589Ile) c.1282T>A (p.Phe428Ile) c.1177T>A (p.Phe393Ile) | |
| 3 | g.122283719T>C | CA354157233 | CASR | c.1534T>C (p.Phe512Leu) c.1795T>C (p.Phe599Leu) c.1765T>C (p.Phe589Leu) c.1282T>C (p.Phe428Leu) c.1177T>C (p.Phe393Leu) | gnomAD v4 |
| 3 | g.122283719T>G | CA354157231 | CASR | c.1534T>G (p.Phe512Val) c.1795T>G (p.Phe599Val) c.1765T>G (p.Phe589Val) c.1282T>G (p.Phe428Val) c.1177T>G (p.Phe393Val) | ClinVar dbSNP |
| 3 | g.122283719T= | CA1397870847 | CASR | c.1534T= (p.Phe512=) c.1795T= (p.Phe599=) c.1765T= (p.Phe589=) c.1282T= (p.Phe428=) c.1177T= (p.Phe393=) | |
| 3 | g.122283720T>A | CA354157235 | CASR | c.1535T>A (p.Phe512Tyr) c.1796T>A (p.Phe599Tyr) c.1766T>A (p.Phe589Tyr) c.1283T>A (p.Phe428Tyr) c.1178T>A (p.Phe393Tyr) | |
| 3 | g.122283720T>C | CA354157236 | CASR | c.1535T>C (p.Phe512Ser) c.1796T>C (p.Phe599Ser) c.1766T>C (p.Phe589Ser) c.1283T>C (p.Phe428Ser) c.1178T>C (p.Phe393Ser) | gnomAD v4 |
| 3 | g.122283720T>G | CA354157238 | CASR | c.1535T>G (p.Phe512Cys) c.1796T>G (p.Phe599Cys) c.1766T>G (p.Phe589Cys) c.1283T>G (p.Phe428Cys) c.1178T>G (p.Phe393Cys) | |
| 3 | g.122283721C>A | CA354157240 | CASR | c.1536C>A (p.Phe512Leu) c.1797C>A (p.Phe599Leu) c.1767C>A (p.Phe589Leu) c.1284C>A (p.Phe428Leu) c.1179C>A (p.Phe393Leu) | |
| 3 | g.122283721C= | CA1397870850 | CASR | c.1536C= (p.Phe512=) c.1797C= (p.Phe599=) c.1767C= (p.Phe589=) c.1284C= (p.Phe428=) c.1179C= (p.Phe393=) | |
| 3 | g.122283721C>G | CA354157242 | CASR | c.1536C>G (p.Phe512Leu) c.1797C>G (p.Phe599Leu) c.1767C>G (p.Phe589Leu) c.1284C>G (p.Phe428Leu) c.1179C>G (p.Phe393Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.122283721C>T | CA435251851 | CASR | c.1536C>T (p.Phe512=) c.1797C>T (p.Phe599=) c.1767C>T (p.Phe589=) c.1284C>T (p.Phe428=) c.1179C>T (p.Phe393=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122283722T>A | CA354157244 | CASR | c.1537T>A (p.Trp513Arg) c.1798T>A (p.Trp600Arg) c.1768T>A (p.Trp590Arg) c.1285T>A (p.Trp429Arg) c.1180T>A (p.Trp394Arg) | |
| 3 | g.122283722T>C | CA354157247 | CASR | c.1537T>C (p.Trp513Arg) c.1798T>C (p.Trp600Arg) c.1768T>C (p.Trp590Arg) c.1285T>C (p.Trp429Arg) c.1180T>C (p.Trp394Arg) | |
| 3 | g.122283722T>G | CA354157249 | CASR | c.1537T>G (p.Trp513Gly) c.1798T>G (p.Trp600Gly) c.1768T>G (p.Trp590Gly) c.1285T>G (p.Trp429Gly) c.1180T>G (p.Trp394Gly) | |
| 3 | g.122283723G>A | CA354157251 | CASR | c.1538G>A (p.Trp513Ter) c.1799G>A (p.Trp600Ter) c.1769G>A (p.Trp590Ter) c.1286G>A (p.Trp429Ter) c.1181G>A (p.Trp394Ter) | |
| 3 | g.122283723G>C | CA354157253 | CASR | c.1538G>C (p.Trp513Ser) c.1799G>C (p.Trp600Ser) c.1769G>C (p.Trp590Ser) c.1286G>C (p.Trp429Ser) c.1181G>C (p.Trp394Ser) | |
| 3 | g.122283723G>T | CA354157255 | CASR | c.1538G>T (p.Trp513Leu) c.1799G>T (p.Trp600Leu) c.1769G>T (p.Trp590Leu) c.1286G>T (p.Trp429Leu) c.1181G>T (p.Trp394Leu) | |
| 3 | g.122283724del | CA645526042 | CASR | c.1539del (p.Trp513CysfsTer?) c.1800del (p.Trp600CysfsTer?) c.1770del (p.Trp590CysfsTer?) c.1287del (p.Trp429CysfsTer?) c.1182del (p.Trp394CysfsTer?) | COSMIC |
| 3 | g.122283724G>A | CA354157257 | CASR | c.1539G>A (p.Trp513Ter) c.1800G>A (p.Trp600Ter) c.1770G>A (p.Trp590Ter) c.1287G>A (p.Trp429Ter) c.1182G>A (p.Trp394Ter) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.122283724G>C | CA354157260 | CASR | c.1539G>C (p.Trp513Cys) c.1800G>C (p.Trp600Cys) c.1770G>C (p.Trp590Cys) c.1287G>C (p.Trp429Cys) c.1182G>C (p.Trp394Cys) | gnomAD v4 |
| 3 | g.122283724G= | CA1397870854 | CASR | c.1539G= (p.Trp513=) c.1800G= (p.Trp600=) c.1770G= (p.Trp590=) c.1287G= (p.Trp429=) c.1182G= (p.Trp394=) | |
| 3 | g.122283724G>T | CA354157262 | CASR | c.1539G>T (p.Trp513Cys) c.1800G>T (p.Trp600Cys) c.1770G>T (p.Trp590Cys) c.1287G>T (p.Trp429Cys) c.1182G>T (p.Trp394Cys) | |
| 3 | g.122283725T>A | CA354157269 | CASR | c.1540T>A (p.Ser514Thr) c.1801T>A (p.Ser601Thr) c.1771T>A (p.Ser591Thr) c.1288T>A (p.Ser430Thr) c.1183T>A (p.Ser395Thr) | |
| 3 | g.122283725T>C | CA354157267 | CASR | c.1540T>C (p.Ser514Pro) c.1801T>C (p.Ser601Pro) c.1771T>C (p.Ser591Pro) c.1288T>C (p.Ser430Pro) c.1183T>C (p.Ser395Pro) | |
| 3 | g.122283725T>G | CA354157264 | CASR | c.1540T>G (p.Ser514Ala) c.1801T>G (p.Ser601Ala) c.1771T>G (p.Ser591Ala) c.1288T>G (p.Ser430Ala) c.1183T>G (p.Ser395Ala) | |
| 3 | g.122283726C>A | CA354157270 | CASR | c.1541C>A (p.Ser514Tyr) c.1802C>A (p.Ser601Tyr) c.1772C>A (p.Ser591Tyr) c.1289C>A (p.Ser430Tyr) c.1184C>A (p.Ser395Tyr) | |
| 3 | g.122283726C>G | CA354157273 | CASR | c.1541C>G (p.Ser514Cys) c.1802C>G (p.Ser601Cys) c.1772C>G (p.Ser591Cys) c.1289C>G (p.Ser430Cys) c.1184C>G (p.Ser395Cys) | |
| 3 | g.122283726C>T | CA354157274 | CASR | c.1541C>T (p.Ser514Phe) c.1802C>T (p.Ser601Phe) c.1772C>T (p.Ser591Phe) c.1289C>T (p.Ser430Phe) c.1184C>T (p.Ser395Phe) | ClinVar |
| 3 | g.122283727C>A | CA435251852 | CASR | c.1542C>A (p.Ser514=) c.1803C>A (p.Ser601=) c.1773C>A (p.Ser591=) c.1290C>A (p.Ser430=) c.1185C>A (p.Ser395=) | |
| 3 | g.122283727C>G | CA435251853 | CASR | c.1542C>G (p.Ser514=) c.1803C>G (p.Ser601=) c.1773C>G (p.Ser591=) c.1290C>G (p.Ser430=) c.1185C>G (p.Ser395=) | |
| 3 | g.122283727C>T | CA435251854 | CASR | c.1542C>T (p.Ser514=) c.1803C>T (p.Ser601=) c.1773C>T (p.Ser591=) c.1290C>T (p.Ser430=) c.1185C>T (p.Ser395=) | |
| 3 | g.122283727_122283728del | CA2499216408 | CASR | c.1542_1543del (p.Asn515Ter) c.1803_1804del (p.Asn602Ter) c.1773_1774del (p.Asn592Ter) c.1290_1291del (p.Asn431Ter) c.1185_1186del (p.Asn396Ter) | ClinVar dbSNP |
| 3 | g.122283728A= | CA1397870860 | CASR | c.1543A= (p.Asn515=) c.1804A= (p.Asn602=) c.1774A= (p.Asn592=) c.1291A= (p.Asn431=) c.1186A= (p.Asn396=) | |
| 3 | g.122283728A>C | CA354157276 | CASR | c.1543A>C (p.Asn515His) c.1804A>C (p.Asn602His) c.1774A>C (p.Asn592His) c.1291A>C (p.Asn431His) c.1186A>C (p.Asn396His) | |
| 3 | g.122283728A>G | CA354157278 | CASR | c.1543A>G (p.Asn515Asp) c.1804A>G (p.Asn602Asp) c.1774A>G (p.Asn592Asp) c.1291A>G (p.Asn431Asp) c.1186A>G (p.Asn396Asp) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.122283728A>T | CA354157280 | CASR | c.1543A>T (p.Asn515Tyr) c.1804A>T (p.Asn602Tyr) c.1774A>T (p.Asn592Tyr) c.1291A>T (p.Asn431Tyr) c.1186A>T (p.Asn396Tyr) | |
| 3 | g.122283729A= | CA1397870863 | CASR | c.1544A= (p.Asn515=) c.1805A= (p.Asn602=) c.1775A= (p.Asn592=) c.1292A= (p.Asn431=) c.1187A= (p.Asn396=) | |
| 3 | g.122283729A>C | CA354157282 | CASR | c.1544A>C (p.Asn515Thr) c.1805A>C (p.Asn602Thr) c.1775A>C (p.Asn592Thr) c.1292A>C (p.Asn431Thr) c.1187A>C (p.Asn396Thr) | |
| 3 | g.122283729A>G | CA2569742 | CASR | c.1544A>G (p.Asn515Ser) c.1805A>G (p.Asn602Ser) c.1775A>G (p.Asn592Ser) c.1292A>G (p.Asn431Ser) c.1187A>G (p.Asn396Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122283729A>T | CA354157285 | CASR | c.1544A>T (p.Asn515Ile) c.1805A>T (p.Asn602Ile) c.1775A>T (p.Asn592Ile) c.1292A>T (p.Asn431Ile) c.1187A>T (p.Asn396Ile) | ClinVar |
| 3 | g.122283730T>A | CA354157286 | CASR | c.1545T>A (p.Asn515Lys) c.1806T>A (p.Asn602Lys) c.1776T>A (p.Asn592Lys) c.1293T>A (p.Asn431Lys) c.1188T>A (p.Asn396Lys) | ClinVar dbSNP |
| 3 | g.122283730T>C | CA435251855 | CASR | c.1545T>C (p.Asn515=) c.1806T>C (p.Asn602=) c.1776T>C (p.Asn592=) c.1293T>C (p.Asn431=) c.1188T>C (p.Asn396=) | |
| 3 | g.122283730T>G | CA354157288 | CASR | c.1545T>G (p.Asn515Lys) c.1806T>G (p.Asn602Lys) c.1776T>G (p.Asn592Lys) c.1293T>G (p.Asn431Lys) c.1188T>G (p.Asn396Lys) | gnomAD v4 |
| 3 | g.122283731G>A | CA82748532 | CASR | c.1546G>A (p.Glu516Lys) c.1807G>A (p.Glu603Lys) c.1777G>A (p.Glu593Lys) c.1294G>A (p.Glu432Lys) c.1189G>A (p.Glu397Lys) | dbSNP |
| 3 | g.122283731G>C | CA354157291 | CASR | c.1546G>C (p.Glu516Gln) c.1807G>C (p.Glu603Gln) c.1777G>C (p.Glu593Gln) c.1294G>C (p.Glu432Gln) c.1189G>C (p.Glu397Gln) | |
| 3 | g.122283731G= | CA1397870886 | CASR | c.1546G= (p.Glu516=) c.1807G= (p.Glu603=) c.1777G= (p.Glu593=) c.1294G= (p.Glu432=) c.1189G= (p.Glu397=) | |
| 3 | g.122283731G>T | CA354157292 | CASR | c.1546G>T (p.Glu516Ter) c.1807G>T (p.Glu603Ter) c.1777G>T (p.Glu593Ter) c.1294G>T (p.Glu432Ter) c.1189G>T (p.Glu397Ter) | |
| 3 | g.122283732A= | CA1397870891 | CASR | c.1547A= (p.Glu516=) c.1808A= (p.Glu603=) c.1778A= (p.Glu593=) c.1295A= (p.Glu432=) c.1190A= (p.Glu397=) | |
| 3 | g.122283732A>C | CA354157296 | CASR | c.1547A>C (p.Glu516Ala) c.1808A>C (p.Glu603Ala) c.1778A>C (p.Glu593Ala) c.1295A>C (p.Glu432Ala) c.1190A>C (p.Glu397Ala) | |
| 3 | g.122283732A>G | CA354157297 | CASR | c.1547A>G (p.Glu516Gly) c.1808A>G (p.Glu603Gly) c.1778A>G (p.Glu593Gly) c.1295A>G (p.Glu432Gly) c.1190A>G (p.Glu397Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.122283732A>T | CA354157294 | CASR | c.1547A>T (p.Glu516Val) c.1808A>T (p.Glu603Val) c.1778A>T (p.Glu593Val) c.1295A>T (p.Glu432Val) c.1190A>T (p.Glu397Val) | |
| 3 | g.122283733G>A | CA435251856 | CASR | c.1548G>A (p.Glu516=) c.1809G>A (p.Glu603=) c.1779G>A (p.Glu593=) c.1296G>A (p.Glu432=) c.1191G>A (p.Glu397=) | |
| 3 | g.122283733G>C | CA354157299 | CASR | c.1548G>C (p.Glu516Asp) c.1809G>C (p.Glu603Asp) c.1779G>C (p.Glu593Asp) c.1296G>C (p.Glu432Asp) c.1191G>C (p.Glu397Asp) | |
| 3 | g.122283733G>T | CA354157302 | CASR | c.1548G>T (p.Glu516Asp) c.1809G>T (p.Glu603Asp) c.1779G>T (p.Glu593Asp) c.1296G>T (p.Glu432Asp) c.1191G>T (p.Glu397Asp) | |
| 3 | g.122283734A>C | CA354157304 | CASR | c.1549A>C (p.Asn517His) c.1810A>C (p.Asn604His) c.1780A>C (p.Asn594His) c.1297A>C (p.Asn433His) c.1192A>C (p.Asn398His) | |
| 3 | g.122283734A>G | CA354157306 | CASR | c.1549A>G (p.Asn517Asp) c.1810A>G (p.Asn604Asp) c.1780A>G (p.Asn594Asp) c.1297A>G (p.Asn433Asp) c.1192A>G (p.Asn398Asp) | |
| 3 | g.122283734A>T | CA354157308 | CASR | c.1549A>T (p.Asn517Tyr) c.1810A>T (p.Asn604Tyr) c.1780A>T (p.Asn594Tyr) c.1297A>T (p.Asn433Tyr) c.1192A>T (p.Asn398Tyr) | |
| 3 | g.122283735A= | CA1397870893 | CASR | c.1550A= (p.Asn517=) c.1811A= (p.Asn604=) c.1781A= (p.Asn594=) c.1298A= (p.Asn433=) c.1193A= (p.Asn398=) | |
| 3 | g.122283735A>C | CA354157310 | CASR | c.1550A>C (p.Asn517Thr) c.1811A>C (p.Asn604Thr) c.1781A>C (p.Asn594Thr) c.1298A>C (p.Asn433Thr) c.1193A>C (p.Asn398Thr) | |
| 3 | g.122283735A>G | CA2569743 | CASR | c.1550A>G (p.Asn517Ser) c.1811A>G (p.Asn604Ser) c.1781A>G (p.Asn594Ser) c.1298A>G (p.Asn433Ser) c.1193A>G (p.Asn398Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122283735A>T | CA354157312 | CASR | c.1550A>T (p.Asn517Ile) c.1811A>T (p.Asn604Ile) c.1781A>T (p.Asn594Ile) c.1298A>T (p.Asn433Ile) c.1193A>T (p.Asn398Ile) | |
| 3 | g.122283736C>A | CA354157314 | CASR | c.1551C>A (p.Asn517Lys) c.1812C>A (p.Asn604Lys) c.1782C>A (p.Asn594Lys) c.1299C>A (p.Asn433Lys) c.1194C>A (p.Asn398Lys) | |
| 3 | g.122283736C>G | CA354157317 | CASR | c.1551C>G (p.Asn517Lys) c.1812C>G (p.Asn604Lys) c.1782C>G (p.Asn594Lys) c.1299C>G (p.Asn433Lys) c.1194C>G (p.Asn398Lys) | |
| 3 | g.122283736C>T | CA435251857 | CASR | c.1551C>T (p.Asn517=) c.1812C>T (p.Asn604=) c.1782C>T (p.Asn594=) c.1299C>T (p.Asn433=) c.1194C>T (p.Asn398=) | ClinVar |
| 3 | g.122283737del | CA2499216409 | CASR | c.1552del (p.His518ThrfsTer?) c.1813del (p.His605ThrfsTer?) c.1783del (p.His595ThrfsTer?) c.1300del (p.His434ThrfsTer?) c.1195del (p.His399ThrfsTer?) | ClinVar dbSNP |
| 3 | g.122283737C>A | CA354157320 | CASR | c.1552C>A (p.His518Asn) c.1813C>A (p.His605Asn) c.1783C>A (p.His595Asn) c.1300C>A (p.His434Asn) c.1195C>A (p.His399Asn) | |
| 3 | g.122283737C>G | CA354157322 | CASR | c.1552C>G (p.His518Asp) c.1813C>G (p.His605Asp) c.1783C>G (p.His595Asp) c.1300C>G (p.His434Asp) c.1195C>G (p.His399Asp) | |
| 3 | g.122283737C>T | CA354157324 | CASR | c.1552C>T (p.His518Tyr) c.1813C>T (p.His605Tyr) c.1783C>T (p.His595Tyr) c.1300C>T (p.His434Tyr) c.1195C>T (p.His399Tyr) | |
| 3 | g.122283738A>C | CA354157331 | CASR | c.1553A>C (p.His518Pro) c.1814A>C (p.His605Pro) c.1784A>C (p.His595Pro) c.1301A>C (p.His434Pro) c.1196A>C (p.His399Pro) | |
| 3 | g.122283738A>G | CA354157326 | CASR | c.1553A>G (p.His518Arg) c.1814A>G (p.His605Arg) c.1784A>G (p.His595Arg) c.1301A>G (p.His434Arg) c.1196A>G (p.His399Arg) | |
| 3 | g.122283738A>T | CA354157329 | CASR | c.1553A>T (p.His518Leu) c.1814A>T (p.His605Leu) c.1784A>T (p.His595Leu) c.1301A>T (p.His434Leu) c.1196A>T (p.His399Leu) | |
| 3 | g.122283739C>A | CA354157337 | CASR | c.1554C>A (p.His518Gln) c.1815C>A (p.His605Gln) c.1785C>A (p.His595Gln) c.1302C>A (p.His434Gln) c.1197C>A (p.His399Gln) | dbSNP |
| 3 | g.122283739C= | CA1397870894 | CASR | c.1554C= (p.His518=) c.1815C= (p.His605=) c.1785C= (p.His595=) c.1302C= (p.His434=) c.1197C= (p.His399=) | |
| 3 | g.122283739C>G | CA354157339 | CASR | c.1554C>G (p.His518Gln) c.1815C>G (p.His605Gln) c.1785C>G (p.His595Gln) c.1302C>G (p.His434Gln) c.1197C>G (p.His399Gln) | |
| 3 | g.122283739C>T | CA435251858 | CASR | c.1554C>T (p.His518=) c.1815C>T (p.His605=) c.1785C>T (p.His595=) c.1302C>T (p.His434=) c.1197C>T (p.His399=) | gnomAD v4 |
| 3 | g.122283740A>C | CA354157342 | CASR | c.1555A>C (p.Thr519Pro) c.1816A>C (p.Thr606Pro) c.1786A>C (p.Thr596Pro) c.1303A>C (p.Thr435Pro) c.1198A>C (p.Thr400Pro) | ClinVar |
| 3 | g.122283740A>G | CA354157344 | CASR | c.1555A>G (p.Thr519Ala) c.1816A>G (p.Thr606Ala) c.1786A>G (p.Thr596Ala) c.1303A>G (p.Thr435Ala) c.1198A>G (p.Thr400Ala) | |
| 3 | g.122283740A>T | CA354157345 | CASR | c.1555A>T (p.Thr519Ser) c.1816A>T (p.Thr606Ser) c.1786A>T (p.Thr596Ser) c.1303A>T (p.Thr435Ser) c.1198A>T (p.Thr400Ser) | |
| 3 | g.122283741C>A | CA354157347 | CASR | c.1556C>A (p.Thr519Asn) c.1817C>A (p.Thr606Asn) c.1787C>A (p.Thr596Asn) c.1304C>A (p.Thr435Asn) c.1199C>A (p.Thr400Asn) | |
| 3 | g.122283741C= | CA1397870896 | CASR | c.1556C= (p.Thr519=) c.1817C= (p.Thr606=) c.1787C= (p.Thr596=) c.1304C= (p.Thr435=) c.1199C= (p.Thr400=) | |
| 3 | g.122283741C>G | CA354157348 | CASR | c.1556C>G (p.Thr519Ser) c.1817C>G (p.Thr606Ser) c.1787C>G (p.Thr596Ser) c.1304C>G (p.Thr435Ser) c.1199C>G (p.Thr400Ser) | |
| 3 | g.122283741C>T | CA354157349 | CASR | c.1556C>T (p.Thr519Ile) c.1817C>T (p.Thr606Ile) c.1787C>T (p.Thr596Ile) c.1304C>T (p.Thr435Ile) c.1199C>T (p.Thr400Ile) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.122283744_122283746del | CA2740094568 | CASR | c.1559_1561del (p.Ser520del) c.1820_1822del (p.Ser607del) c.1790_1792del (p.Ser597del) c.1307_1309del (p.Ser436del) c.1202_1204del (p.Ser401del) | ClinVar |
| 3 | g.122283742C>A | CA435251859 | CASR | c.1557C>A (p.Thr519=) c.1818C>A (p.Thr606=) c.1788C>A (p.Thr596=) c.1305C>A (p.Thr435=) c.1200C>A (p.Thr400=) | ClinVar gnomAD v4 |
| 3 | g.122283742C= | CA1397870900 | CASR | c.1557C= (p.Thr519=) c.1818C= (p.Thr606=) c.1788C= (p.Thr596=) c.1305C= (p.Thr435=) c.1200C= (p.Thr400=) | |
| 3 | g.122283742C>G | CA435251860 | CASR | c.1557C>G (p.Thr519=) c.1818C>G (p.Thr606=) c.1788C>G (p.Thr596=) c.1305C>G (p.Thr435=) c.1200C>G (p.Thr400=) | |
| 3 | g.122283742C>T | CA2569744 | CASR | c.1557C>T (p.Thr519=) c.1818C>T (p.Thr606=) c.1788C>T (p.Thr596=) c.1305C>T (p.Thr435=) c.1200C>T (p.Thr400=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122283743T>A | CA354157351 | CASR | c.1558T>A (p.Ser520Thr) c.1819T>A (p.Ser607Thr) c.1789T>A (p.Ser597Thr) c.1306T>A (p.Ser436Thr) c.1201T>A (p.Ser401Thr) | |
| 3 | g.122283743T>C | CA354157352 | CASR | c.1558T>C (p.Ser520Pro) c.1819T>C (p.Ser607Pro) c.1789T>C (p.Ser597Pro) c.1306T>C (p.Ser436Pro) c.1201T>C (p.Ser401Pro) | ClinVar dbSNP |
| 3 | g.122283743T>G | CA354157353 | CASR | c.1558T>G (p.Ser520Ala) c.1819T>G (p.Ser607Ala) c.1789T>G (p.Ser597Ala) c.1306T>G (p.Ser436Ala) c.1201T>G (p.Ser401Ala) | |
| 3 | g.122283743T= | CA1397870909 | CASR | c.1558T= (p.Ser520=) c.1819T= (p.Ser607=) c.1789T= (p.Ser597=) c.1306T= (p.Ser436=) c.1201T= (p.Ser401=) | |
| 3 | g.122283744C>A | CA354157354 | CASR | c.1559C>A (p.Ser520Tyr) c.1820C>A (p.Ser607Tyr) c.1790C>A (p.Ser597Tyr) c.1307C>A (p.Ser436Tyr) c.1202C>A (p.Ser401Tyr) | |
| 3 | g.122283744C>G | CA354157357 | CASR | c.1559C>G (p.Ser520Cys) c.1820C>G (p.Ser607Cys) c.1790C>G (p.Ser597Cys) c.1307C>G (p.Ser436Cys) c.1202C>G (p.Ser401Cys) | |
| 3 | g.122283744C>T | CA354157355 | CASR | c.1559C>T (p.Ser520Phe) c.1820C>T (p.Ser607Phe) c.1790C>T (p.Ser597Phe) c.1307C>T (p.Ser436Phe) c.1202C>T (p.Ser401Phe) | |
| 3 | g.122283745C>A | CA435251861 | CASR | c.1560C>A (p.Ser520=) c.1821C>A (p.Ser607=) c.1791C>A (p.Ser597=) c.1308C>A (p.Ser436=) c.1203C>A (p.Ser401=) | |
| 3 | g.122283745C>G | CA435251862 | CASR | c.1560C>G (p.Ser520=) c.1821C>G (p.Ser607=) c.1791C>G (p.Ser597=) c.1308C>G (p.Ser436=) c.1203C>G (p.Ser401=) | |
| 3 | g.122283745C>T | CA435251863 | CASR | c.1560C>T (p.Ser520=) c.1821C>T (p.Ser607=) c.1791C>T (p.Ser597=) c.1308C>T (p.Ser436=) c.1203C>T (p.Ser401=) | COSMIC |
| 3 | g.122283746T>A | CA354157359 | CASR | c.1561T>A (p.Cys521Ser) c.1822T>A (p.Cys608Ser) c.1792T>A (p.Cys598Ser) c.1309T>A (p.Cys437Ser) c.1204T>A (p.Cys402Ser) | |
| 3 | g.122283746T>C | CA354157360 | CASR | c.1561T>C (p.Cys521Arg) c.1822T>C (p.Cys608Arg) c.1792T>C (p.Cys598Arg) c.1309T>C (p.Cys437Arg) c.1204T>C (p.Cys402Arg) | |
| 3 | g.122283746T>G | CA354157372 | CASR | c.1561T>G (p.Cys521Gly) c.1822T>G (p.Cys608Gly) c.1792T>G (p.Cys598Gly) c.1309T>G (p.Cys437Gly) c.1204T>G (p.Cys402Gly) | |
| 3 | g.122283747G>A | CA354157376 | CASR | c.1562G>A (p.Cys521Tyr) c.1823G>A (p.Cys608Tyr) c.1793G>A (p.Cys598Tyr) c.1310G>A (p.Cys437Tyr) c.1205G>A (p.Cys402Tyr) | ClinVar dbSNP |
| 3 | g.122283747G>C | CA354157377 | CASR | c.1562G>C (p.Cys521Ser) c.1823G>C (p.Cys608Ser) c.1793G>C (p.Cys598Ser) c.1310G>C (p.Cys437Ser) c.1205G>C (p.Cys402Ser) | |
| 3 | g.122283747G>T | CA354157378 | CASR | c.1562G>T (p.Cys521Phe) c.1823G>T (p.Cys608Phe) c.1793G>T (p.Cys598Phe) c.1310G>T (p.Cys437Phe) c.1205G>T (p.Cys402Phe) | |
| 3 | g.122283748C>A | CA354157379 | CASR | c.1563C>A (p.Cys521Ter) c.1824C>A (p.Cys608Ter) c.1794C>A (p.Cys598Ter) c.1311C>A (p.Cys437Ter) c.1206C>A (p.Cys402Ter) | |
| 3 | g.122283748C>G | CA354157380 | CASR | c.1563C>G (p.Cys521Trp) c.1824C>G (p.Cys608Trp) c.1794C>G (p.Cys598Trp) c.1311C>G (p.Cys437Trp) c.1206C>G (p.Cys402Trp) | |
| 3 | g.122283748C>T | CA435251864 | CASR | c.1563C>T (p.Cys521=) c.1824C>T (p.Cys608=) c.1794C>T (p.Cys598=) c.1311C>T (p.Cys437=) c.1206C>T (p.Cys402=) | |
| 3 | g.122283749A>C | CA354157381 | CASR | c.1564A>C (p.Ile522Leu) c.1825A>C (p.Ile609Leu) c.1795A>C (p.Ile599Leu) c.1312A>C (p.Ile438Leu) c.1207A>C (p.Ile403Leu) | |
| 3 | g.122283749A>G | CA354157383 | CASR | c.1564A>G (p.Ile522Val) c.1825A>G (p.Ile609Val) c.1795A>G (p.Ile599Val) c.1312A>G (p.Ile438Val) c.1207A>G (p.Ile403Val) | |
| 3 | g.122283749A>T | CA354157382 | CASR | c.1564A>T (p.Ile522Phe) c.1825A>T (p.Ile609Phe) c.1795A>T (p.Ile599Phe) c.1312A>T (p.Ile438Phe) c.1207A>T (p.Ile403Phe) | |
| 3 | g.122283750T>A | CA354157386 | CASR | c.1565T>A (p.Ile522Asn) c.1826T>A (p.Ile609Asn) c.1796T>A (p.Ile599Asn) c.1313T>A (p.Ile438Asn) c.1208T>A (p.Ile403Asn) | |
| 3 | g.122283750T>C | CA354157387 | CASR | c.1565T>C (p.Ile522Thr) c.1826T>C (p.Ile609Thr) c.1796T>C (p.Ile599Thr) c.1313T>C (p.Ile438Thr) c.1208T>C (p.Ile403Thr) | ClinVar dbSNP |
| 3 | g.122283750T>G | CA354157389 | CASR | c.1565T>G (p.Ile522Ser) c.1826T>G (p.Ile609Ser) c.1796T>G (p.Ile599Ser) c.1313T>G (p.Ile438Ser) c.1208T>G (p.Ile403Ser) | |
| 3 | g.122283751T>A | CA435251865 | CASR | c.1566T>A (p.Ile522=) c.1827T>A (p.Ile609=) c.1797T>A (p.Ile599=) c.1314T>A (p.Ile438=) c.1209T>A (p.Ile403=) | |
| 3 | g.122283751T>C | CA435251866 | CASR | c.1566T>C (p.Ile522=) c.1827T>C (p.Ile609=) c.1797T>C (p.Ile599=) c.1314T>C (p.Ile438=) c.1209T>C (p.Ile403=) | |
| 3 | g.122283751T>G | CA354157391 | CASR | c.1566T>G (p.Ile522Met) c.1827T>G (p.Ile609Met) c.1797T>G (p.Ile599Met) c.1314T>G (p.Ile438Met) c.1209T>G (p.Ile403Met) | |
| 3 | g.122283752G>A | CA354157394 | CASR | c.1567G>A (p.Ala523Thr) c.1828G>A (p.Ala610Thr) c.1798G>A (p.Ala600Thr) c.1315G>A (p.Ala439Thr) c.1210G>A (p.Ala404Thr) | ClinVar |
| 3 | g.122283752G>C | CA354157398 | CASR | c.1567G>C (p.Ala523Pro) c.1828G>C (p.Ala610Pro) c.1798G>C (p.Ala600Pro) c.1315G>C (p.Ala439Pro) c.1210G>C (p.Ala404Pro) | |
| 3 | g.122283752G>T | CA354157396 | CASR | c.1567G>T (p.Ala523Ser) c.1828G>T (p.Ala610Ser) c.1798G>T (p.Ala600Ser) c.1315G>T (p.Ala439Ser) c.1210G>T (p.Ala404Ser) | |
| 3 | g.122283753C>A | CA82748543 | CASR | c.1568C>A (p.Ala523Asp) c.1829C>A (p.Ala610Asp) c.1799C>A (p.Ala600Asp) c.1316C>A (p.Ala439Asp) c.1211C>A (p.Ala404Asp) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122283753C= | CA1397870913 | CASR | c.1568C= (p.Ala523=) c.1829C= (p.Ala610=) c.1799C= (p.Ala600=) c.1316C= (p.Ala439=) c.1211C= (p.Ala404=) | |
| 3 | g.122283753C>G | CA354157401 | CASR | c.1568C>G (p.Ala523Gly) c.1829C>G (p.Ala610Gly) c.1799C>G (p.Ala600Gly) c.1316C>G (p.Ala439Gly) c.1211C>G (p.Ala404Gly) | |
| 3 | g.122283753C>T | CA354157402 | CASR | c.1568C>T (p.Ala523Val) c.1829C>T (p.Ala610Val) c.1799C>T (p.Ala600Val) c.1316C>T (p.Ala439Val) c.1211C>T (p.Ala404Val) | |
| 3 | g.122283754C>A | CA435251867 | CASR | c.1569C>A (p.Ala523=) c.1830C>A (p.Ala610=) c.1800C>A (p.Ala600=) c.1317C>A (p.Ala439=) c.1212C>A (p.Ala404=) | |
| 3 | g.122283754C>G | CA435251868 | CASR | c.1569C>G (p.Ala523=) c.1830C>G (p.Ala610=) c.1800C>G (p.Ala600=) c.1317C>G (p.Ala439=) c.1212C>G (p.Ala404=) | ClinVar |
| 3 | g.122283754C>T | CA435251869 | CASR | c.1569C>T (p.Ala523=) c.1830C>T (p.Ala610=) c.1800C>T (p.Ala600=) c.1317C>T (p.Ala439=) c.1212C>T (p.Ala404=) | |
| 3 | g.122283755A>C | CA354157405 | CASR | c.1570A>C (p.Lys524Gln) c.1831A>C (p.Lys611Gln) c.1801A>C (p.Lys601Gln) c.1318A>C (p.Lys440Gln) c.1213A>C (p.Lys405Gln) | |
| 3 | g.122283755A>G | CA354157407 | CASR | c.1570A>G (p.Lys524Glu) c.1831A>G (p.Lys611Glu) c.1801A>G (p.Lys601Glu) c.1318A>G (p.Lys440Glu) c.1213A>G (p.Lys405Glu) | |
| 3 | g.122283755A>T | CA354157409 | CASR | c.1570A>T (p.Lys524Ter) c.1831A>T (p.Lys611Ter) c.1801A>T (p.Lys601Ter) c.1318A>T (p.Lys440Ter) c.1213A>T (p.Lys405Ter) | |
| 3 | g.122283756del | CA2573136448 | CASR | c.1571del (p.Lys524ArgfsTer26) c.1832del (p.Lys611ArgfsTer26) c.1802del (p.Lys601ArgfsTer26) c.1319del (p.Lys440ArgfsTer26) c.1214del (p.Lys405ArgfsTer26) | ClinVar dbSNP |
| 3 | g.122283756A>C | CA354157412 | CASR | c.1571A>C (p.Lys524Thr) c.1832A>C (p.Lys611Thr) c.1802A>C (p.Lys601Thr) c.1319A>C (p.Lys440Thr) c.1214A>C (p.Lys405Thr) | |
| 3 | g.122283756A>G | CA354157413 | CASR | c.1571A>G (p.Lys524Arg) c.1832A>G (p.Lys611Arg) c.1802A>G (p.Lys601Arg) c.1319A>G (p.Lys440Arg) c.1214A>G (p.Lys405Arg) | ClinVar dbSNP |
| 3 | g.122283756A>T | CA354157415 | CASR | c.1571A>T (p.Lys524Met) c.1832A>T (p.Lys611Met) c.1802A>T (p.Lys601Met) c.1319A>T (p.Lys440Met) c.1214A>T (p.Lys405Met) | |
| 3 | g.122283757G>A | CA435251870 | CASR | c.1572G>A (p.Lys524=) c.1833G>A (p.Lys611=) c.1803G>A (p.Lys601=) c.1320G>A (p.Lys440=) c.1215G>A (p.Lys405=) | ClinVar dbSNP COSMIC |
| 3 | g.122283757G>C | CA354157419 | CASR | c.1572G>C (p.Lys524Asn) c.1833G>C (p.Lys611Asn) c.1803G>C (p.Lys601Asn) c.1320G>C (p.Lys440Asn) c.1215G>C (p.Lys405Asn) | ClinVar |
| 3 | g.122283757G= | CA1397870915 | CASR | c.1572G= (p.Lys524=) c.1833G= (p.Lys611=) c.1803G= (p.Lys601=) c.1320G= (p.Lys440=) c.1215G= (p.Lys405=) | |
| 3 | g.122283757G>T | CA354157420 | CASR | c.1572G>T (p.Lys524Asn) c.1833G>T (p.Lys611Asn) c.1803G>T (p.Lys601Asn) c.1320G>T (p.Lys440Asn) c.1215G>T (p.Lys405Asn) | |
| 3 | g.122283758G>A | CA354157423 | CASR | c.1573G>A (p.Glu525Lys) c.1834G>A (p.Glu612Lys) c.1804G>A (p.Glu602Lys) c.1321G>A (p.Glu441Lys) c.1216G>A (p.Glu406Lys) | |
| 3 | g.122283758G>C | CA354157427 | CASR | c.1573G>C (p.Glu525Gln) c.1834G>C (p.Glu612Gln) c.1804G>C (p.Glu602Gln) c.1321G>C (p.Glu441Gln) c.1216G>C (p.Glu406Gln) | ClinVar |
| 3 | g.122283758G>T | CA354157425 | CASR | c.1573G>T (p.Glu525Ter) c.1834G>T (p.Glu612Ter) c.1804G>T (p.Glu602Ter) c.1321G>T (p.Glu441Ter) c.1216G>T (p.Glu406Ter) | |
| 3 | g.122283759A>C | CA354157429 | CASR | c.1574A>C (p.Glu525Ala) c.1835A>C (p.Glu612Ala) c.1805A>C (p.Glu602Ala) c.1322A>C (p.Glu441Ala) c.1217A>C (p.Glu406Ala) | |
| 3 | g.122283759A>G | CA354157431 | CASR | c.1574A>G (p.Glu525Gly) c.1835A>G (p.Glu612Gly) c.1805A>G (p.Glu602Gly) c.1322A>G (p.Glu441Gly) c.1217A>G (p.Glu406Gly) | |
| 3 | g.122283759A>T | CA354157434 | CASR | c.1574A>T (p.Glu525Val) c.1835A>T (p.Glu612Val) c.1805A>T (p.Glu602Val) c.1322A>T (p.Glu441Val) c.1217A>T (p.Glu406Val) | |
| 3 | g.122283760G>A | CA2569745 | CASR | c.1575G>A (p.Glu525=) c.1836G>A (p.Glu612=) c.1806G>A (p.Glu602=) c.1323G>A (p.Glu441=) c.1218G>A (p.Glu406=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122283760G>C | CA354157436 | CASR | c.1575G>C (p.Glu525Asp) c.1836G>C (p.Glu612Asp) c.1806G>C (p.Glu602Asp) c.1323G>C (p.Glu441Asp) c.1218G>C (p.Glu406Asp) | COSMIC |
| 3 | g.122283760G= | CA1397870920 | CASR | c.1575G= (p.Glu525=) c.1836G= (p.Glu612=) c.1806G= (p.Glu602=) c.1323G= (p.Glu441=) c.1218G= (p.Glu406=) | |
| 3 | g.122283760G>T | CA354157437 | CASR | c.1575G>T (p.Glu525Asp) c.1836G>T (p.Glu612Asp) c.1806G>T (p.Glu602Asp) c.1323G>T (p.Glu441Asp) c.1218G>T (p.Glu406Asp) | |
| 3 | g.122283761A= | CA1397870933 | CASR | c.1576A= (p.Ile526=) c.1837A= (p.Ile613=) c.1807A= (p.Ile603=) c.1324A= (p.Ile442=) c.1219A= (p.Ile407=) | |
| 3 | g.122283761A>C | CA354157438 | CASR | c.1576A>C (p.Ile526Leu) c.1837A>C (p.Ile613Leu) c.1807A>C (p.Ile603Leu) c.1324A>C (p.Ile442Leu) c.1219A>C (p.Ile407Leu) | |
| 3 | g.122283761A>G | CA354157439 | CASR | c.1576A>G (p.Ile526Val) c.1837A>G (p.Ile613Val) c.1807A>G (p.Ile603Val) c.1324A>G (p.Ile442Val) c.1219A>G (p.Ile407Val) | |
| 3 | g.122283761A>T | CA354157440 | CASR | c.1576A>T (p.Ile526Phe) c.1837A>T (p.Ile613Phe) c.1807A>T (p.Ile603Phe) c.1324A>T (p.Ile442Phe) c.1219A>T (p.Ile407Phe) | dbSNP |
| 3 | g.122283762T>A | CA354157441 | CASR | c.1577T>A (p.Ile526Asn) c.1838T>A (p.Ile613Asn) c.1808T>A (p.Ile603Asn) c.1325T>A (p.Ile442Asn) c.1220T>A (p.Ile407Asn) | ClinVar |
| 3 | g.122283762T>C | CA354157442 | CASR | c.1577T>C (p.Ile526Thr) c.1838T>C (p.Ile613Thr) c.1808T>C (p.Ile603Thr) c.1325T>C (p.Ile442Thr) c.1220T>C (p.Ile407Thr) | COSMIC |
| 3 | g.122283762T>G | CA354157444 | CASR | c.1577T>G (p.Ile526Ser) c.1838T>G (p.Ile613Ser) c.1808T>G (p.Ile603Ser) c.1325T>G (p.Ile442Ser) c.1220T>G (p.Ile407Ser) | |
| 3 | g.122283763C>A | CA435251871 | CASR | c.1578C>A (p.Ile526=) c.1839C>A (p.Ile613=) c.1809C>A (p.Ile603=) c.1326C>A (p.Ile442=) c.1221C>A (p.Ile407=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.122283763C= | CA1397870937 | CASR | c.1578C= (p.Ile526=) c.1839C= (p.Ile613=) c.1809C= (p.Ile603=) c.1326C= (p.Ile442=) c.1221C= (p.Ile407=) | |
| 3 | g.122283763C>G | CA354157446 | CASR | c.1578C>G (p.Ile526Met) c.1839C>G (p.Ile613Met) c.1809C>G (p.Ile603Met) c.1326C>G (p.Ile442Met) c.1221C>G (p.Ile407Met) | |
| 3 | g.122283763C>T | CA435251872 | CASR | c.1578C>T (p.Ile526=) c.1839C>T (p.Ile613=) c.1809C>T (p.Ile603=) c.1326C>T (p.Ile442=) c.1221C>T (p.Ile407=) | ClinVar dbSNP gnomAD v4 COSMIC |
| 3 | g.122283764G>A | CA119533 | CASR | c.1579G>A (p.Glu527Lys) c.1840G>A (p.Glu614Lys) c.1810G>A (p.Glu604Lys) c.1327G>A (p.Glu443Lys) c.1222G>A (p.Glu408Lys) | ClinVar dbSNP COSMIC |
| 3 | g.122283764G>C | CA354157451 | CASR | c.1579G>C (p.Glu527Gln) c.1840G>C (p.Glu614Gln) c.1810G>C (p.Glu604Gln) c.1327G>C (p.Glu443Gln) c.1222G>C (p.Glu408Gln) | |
| 3 | g.122283764G= | CA1397870943 | CASR | c.1579G= (p.Glu527=) c.1840G= (p.Glu614=) c.1810G= (p.Glu604=) c.1327G= (p.Glu443=) c.1222G= (p.Glu408=) | |
| 3 | g.122283764G>T | CA354157449 | CASR | c.1579G>T (p.Glu527Ter) c.1840G>T (p.Glu614Ter) c.1810G>T (p.Glu604Ter) c.1327G>T (p.Glu443Ter) c.1222G>T (p.Glu408Ter) |