UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.151181392_151181407delinsCGTGGTTATTGATGTT | CA2465564830 | GPR50 | c.1809_1824delinsCGTGGTTATTGATGTT (p.Val603=) c.1803_1818delinsCGTGGTTATTGATGTT (p.Val601=) c.1068_1083delinsCGTGGTTATTGATGTT (p.Val356=) | |
| X | g.151181394_151181408del | CA645127941 | GPR50 | c.1811_1825del (p.Val604_Val608del) c.1805_1819del (p.Val602_Val606del) c.1070_1084del (p.Val357_Val361del) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.151181399_151181401del | CA2694945939 | GPR50 | c.1816_1818del (p.Ile606del) c.1810_1812del (p.Ile604del) c.1075_1077del (p.Ile359del) | gnomAD v4 |
| X | g.151181399del | CA2694945940 | GPR50 | c.1816del (p.Ile606LeufsTer?) c.1810del (p.Ile604LeufsTer?) c.1075del (p.Ile359LeufsTer?) | gnomAD v4 |
| X | g.151181399A= | CA2465564833 | GPR50 | c.1816A= (p.Ile606=) c.1810A= (p.Ile604=) c.1075A= (p.Ile359=) | |
| X | g.151181399A>C | CA415270170 | GPR50 | c.1816A>C (p.Ile606Leu) c.1810A>C (p.Ile604Leu) c.1075A>C (p.Ile359Leu) | |
| X | g.151181399A>G | CA10540487 | GPR50 | c.1816A>G (p.Ile606Val) c.1810A>G (p.Ile604Val) c.1075A>G (p.Ile359Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.151181399A>T | CA415270171 | GPR50 | c.1816A>T (p.Ile606Phe) c.1810A>T (p.Ile604Phe) c.1075A>T (p.Ile359Phe) | gnomAD v4 |
| X | g.151181400T>A | CA415270172 | GPR50 | c.1817T>A (p.Ile606Asn) c.1811T>A (p.Ile604Asn) c.1076T>A (p.Ile359Asn) | dbSNP |
| X | g.151181400T>C | CA415270173 | GPR50 | c.1817T>C (p.Ile606Thr) c.1811T>C (p.Ile604Thr) c.1076T>C (p.Ile359Thr) | |
| X | g.151181400T>G | CA415270174 | GPR50 | c.1817T>G (p.Ile606Ser) c.1811T>G (p.Ile604Ser) c.1076T>G (p.Ile359Ser) | |
| X | g.151181400T= | CA2465564834 | GPR50 | c.1817T= (p.Ile606=) c.1811T= (p.Ile604=) c.1076T= (p.Ile359=) | |
| X | g.151181401T>A | CA519131786 | GPR50 | c.1818T>A (p.Ile606=) c.1812T>A (p.Ile604=) c.1077T>A (p.Ile359=) | |
| X | g.151181401T>C | CA519131788 | GPR50 | c.1818T>C (p.Ile606=) c.1812T>C (p.Ile604=) c.1077T>C (p.Ile359=) | gnomAD v4 |
| X | g.151181401T>G | CA415270175 | GPR50 | c.1818T>G (p.Ile606Met) c.1812T>G (p.Ile604Met) c.1077T>G (p.Ile359Met) | |
| X | g.151181402G>A | CA415270176 | GPR50 | c.1819G>A (p.Asp607Asn) c.1813G>A (p.Asp605Asn) c.1078G>A (p.Asp360Asn) | gnomAD v4 |
| X | g.151181402G>C | CA415270177 | GPR50 | c.1819G>C (p.Asp607His) c.1813G>C (p.Asp605His) c.1078G>C (p.Asp360His) | dbSNP gnomAD v4 |
| X | g.151181402G= | CA2465564835 | GPR50 | c.1819G= (p.Asp607=) c.1813G= (p.Asp605=) c.1078G= (p.Asp360=) | |
| X | g.151181402G>T | CA415270178 | GPR50 | c.1819G>T (p.Asp607Tyr) c.1813G>T (p.Asp605Tyr) c.1078G>T (p.Asp360Tyr) | gnomAD v4 |
| X | g.151181403A>C | CA415270179 | GPR50 | c.1820A>C (p.Asp607Ala) c.1814A>C (p.Asp605Ala) c.1079A>C (p.Asp360Ala) | |
| X | g.151181403A>G | CA415270180 | GPR50 | c.1820A>G (p.Asp607Gly) c.1814A>G (p.Asp605Gly) c.1079A>G (p.Asp360Gly) | gnomAD v4 |
| X | g.151181403A>T | CA415270181 | GPR50 | c.1820A>T (p.Asp607Val) c.1814A>T (p.Asp605Val) c.1079A>T (p.Asp360Val) | |
| X | g.151181404T>A | CA415270183 | GPR50 | c.1821T>A (p.Asp607Glu) c.1815T>A (p.Asp605Glu) c.1080T>A (p.Asp360Glu) | |
| X | g.151181404T>C | CA519131789 | GPR50 | c.1821T>C (p.Asp607=) c.1815T>C (p.Asp605=) c.1080T>C (p.Asp360=) | gnomAD v4 |
| X | g.151181404T>G | CA415270182 | GPR50 | c.1821T>G (p.Asp607Glu) c.1815T>G (p.Asp605Glu) c.1080T>G (p.Asp360Glu) | |
| X | g.151181406_151181408del | CA2694945941 | GPR50 | c.1823_1825del (p.Val608del) c.1817_1819del (p.Val606del) c.1082_1084del (p.Val361del) | gnomAD v4 |
| X | g.151181405G>A | CA415270184 | GPR50 | c.1822G>A (p.Val608Ile) c.1816G>A (p.Val606Ile) c.1081G>A (p.Val361Ile) | gnomAD v4 |
| X | g.151181405G>C | CA415270185 | GPR50 | c.1822G>C (p.Val608Leu) c.1816G>C (p.Val606Leu) c.1081G>C (p.Val361Leu) | |
| X | g.151181405G>T | CA415270186 | GPR50 | c.1822G>T (p.Val608Phe) c.1816G>T (p.Val606Phe) c.1081G>T (p.Val361Phe) | gnomAD v4 COSMIC |
| X | g.151181406T>A | CA415270187 | GPR50 | c.1823T>A (p.Val608Asp) c.1817T>A (p.Val606Asp) c.1082T>A (p.Val361Asp) | |
| X | g.151181406T>C | CA415270188 | GPR50 | c.1823T>C (p.Val608Ala) c.1817T>C (p.Val606Ala) c.1082T>C (p.Val361Ala) | gnomAD v4 |
| X | g.151181406T>G | CA415270189 | GPR50 | c.1823T>G (p.Val608Gly) c.1817T>G (p.Val606Gly) c.1082T>G (p.Val361Gly) | |
| X | g.151181407T>A | CA519131790 | GPR50 | c.1824T>A (p.Val608=) c.1818T>A (p.Val606=) c.1083T>A (p.Val361=) | |
| X | g.151181407T>C | CA519131791 | GPR50 | c.1824T>C (p.Val608=) c.1818T>C (p.Val606=) c.1083T>C (p.Val361=) | |
| X | g.151181407T>G | CA519131792 | GPR50 | c.1824T>G (p.Val608=) c.1818T>G (p.Val606=) c.1083T>G (p.Val361=) | |
| X | g.151181408G>A | CA415270190 | GPR50 | c.1825G>A (p.Glu609Lys) c.1819G>A (p.Glu607Lys) c.1084G>A (p.Glu362Lys) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.151181408G>C | CA415270191 | GPR50 | c.1825G>C (p.Glu609Gln) c.1819G>C (p.Glu607Gln) c.1084G>C (p.Glu362Gln) | |
| X | g.151181408G= | CA2465564836 | GPR50 | c.1825G= (p.Glu609=) c.1819G= (p.Glu607=) c.1084G= (p.Glu362=) | |
| X | g.151181408G>T | CA415270192 | GPR50 | c.1825G>T (p.Glu609Ter) c.1819G>T (p.Glu607Ter) c.1084G>T (p.Glu362Ter) | gnomAD v4 |
| X | g.151181409A>C | CA415270195 | GPR50 | c.1826A>C (p.Glu609Ala) c.1820A>C (p.Glu607Ala) c.1085A>C (p.Glu362Ala) | |
| X | g.151181409A>G | CA415270194 | GPR50 | c.1826A>G (p.Glu609Gly) c.1820A>G (p.Glu607Gly) c.1085A>G (p.Glu362Gly) | gnomAD v4 |
| X | g.151181409A>T | CA415270193 | GPR50 | c.1826A>T (p.Glu609Val) c.1820A>T (p.Glu607Val) c.1085A>T (p.Glu362Val) | gnomAD v4 |
| X | g.151181410A>C | CA415270196 | GPR50 | c.1827A>C (p.Glu609Asp) c.1821A>C (p.Glu607Asp) c.1086A>C (p.Glu362Asp) | |
| X | g.151181410A>G | CA519131793 | GPR50 | c.1827A>G (p.Glu609=) c.1821A>G (p.Glu607=) c.1086A>G (p.Glu362=) | |
| X | g.151181410A>T | CA415270197 | GPR50 | c.1827A>T (p.Glu609Asp) c.1821A>T (p.Glu607Asp) c.1086A>T (p.Glu362Asp) | |
| X | g.151181411G>A | CA415270198 | GPR50 | c.1828G>A (p.Asp610Asn) c.1822G>A (p.Asp608Asn) c.1087G>A (p.Asp363Asn) | |
| X | g.151181411G>C | CA415270199 | GPR50 | c.1828G>C (p.Asp610His) c.1822G>C (p.Asp608His) c.1087G>C (p.Asp363His) | |
| X | g.151181411G>T | CA415270200 | GPR50 | c.1828G>T (p.Asp610Tyr) c.1822G>T (p.Asp608Tyr) c.1087G>T (p.Asp363Tyr) | gnomAD v4 |
| X | g.151181416_151181424del | CA2694945942 | GPR50 | c.1833_1841del (p.Asp611_Asp613del) c.1827_1835del (p.Asp609_Asp611del) c.1092_1100del (p.Asp364_Asp366del) | gnomAD v4 |
| X | g.151181412A= | CA2465564837 | GPR50 | c.1829A= (p.Asp610=) c.1823A= (p.Asp608=) c.1088A= (p.Asp363=) | |
| X | g.151181412A>C | CA415270201 | GPR50 | c.1829A>C (p.Asp610Ala) c.1823A>C (p.Asp608Ala) c.1088A>C (p.Asp363Ala) | |
| X | g.151181412A>G | CA10540488 | GPR50 | c.1829A>G (p.Asp610Gly) c.1823A>G (p.Asp608Gly) c.1088A>G (p.Asp363Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.151181412A>T | CA415270202 | GPR50 | c.1829A>T (p.Asp610Val) c.1823A>T (p.Asp608Val) c.1088A>T (p.Asp363Val) | |
| X | g.151181413T>A | CA415270203 | GPR50 | c.1830T>A (p.Asp610Glu) c.1824T>A (p.Asp608Glu) c.1089T>A (p.Asp363Glu) | |
| X | g.151181413T>C | CA519131794 | GPR50 | c.1830T>C (p.Asp610=) c.1824T>C (p.Asp608=) c.1089T>C (p.Asp363=) | |
| X | g.151181413T>G | CA415270204 | GPR50 | c.1830T>G (p.Asp610Glu) c.1824T>G (p.Asp608Glu) c.1089T>G (p.Asp363Glu) | |
| X | g.151181414G>A | CA415270207 | GPR50 | c.1831G>A (p.Asp611Asn) c.1825G>A (p.Asp609Asn) c.1090G>A (p.Asp364Asn) | |
| X | g.151181414G>C | CA415270206 | GPR50 | c.1831G>C (p.Asp611His) c.1825G>C (p.Asp609His) c.1090G>C (p.Asp364His) | |
| X | g.151181414G>T | CA415270205 | GPR50 | c.1831G>T (p.Asp611Tyr) c.1825G>T (p.Asp609Tyr) c.1090G>T (p.Asp364Tyr) | gnomAD v4 |
| X | g.151181415A>C | CA415270208 | GPR50 | c.1832A>C (p.Asp611Ala) c.1826A>C (p.Asp609Ala) c.1091A>C (p.Asp364Ala) | |
| X | g.151181415A>G | CA415270209 | GPR50 | c.1832A>G (p.Asp611Gly) c.1826A>G (p.Asp609Gly) c.1091A>G (p.Asp364Gly) | gnomAD v4 |
| X | g.151181415A>T | CA415270210 | GPR50 | c.1832A>T (p.Asp611Val) c.1826A>T (p.Asp609Val) c.1091A>T (p.Asp364Val) | |
| X | g.151181416T>A | CA415270211 | GPR50 | c.1833T>A (p.Asp611Glu) c.1827T>A (p.Asp609Glu) c.1092T>A (p.Asp364Glu) | |
| X | g.151181416T>C | CA519131796 | GPR50 | c.1833T>C (p.Asp611=) c.1827T>C (p.Asp609=) c.1092T>C (p.Asp364=) | gnomAD v4 |
| X | g.151181416T>G | CA415270212 | GPR50 | c.1833T>G (p.Asp611Glu) c.1827T>G (p.Asp609Glu) c.1092T>G (p.Asp364Glu) | |
| X | g.151181417C>A | CA415270213 | GPR50 | c.1834C>A (p.Pro612Thr) c.1828C>A (p.Pro610Thr) c.1093C>A (p.Pro365Thr) | gnomAD v4 COSMIC |
| X | g.151181417C= | CA2465564838 | GPR50 | c.1834C= (p.Pro612=) c.1828C= (p.Pro610=) c.1093C= (p.Pro365=) | |
| X | g.151181417C>G | CA415270214 | GPR50 | c.1834C>G (p.Pro612Ala) c.1828C>G (p.Pro610Ala) c.1093C>G (p.Pro365Ala) | |
| X | g.151181417C>T | CA10540489 | GPR50 | c.1834C>T (p.Pro612Ser) c.1828C>T (p.Pro610Ser) c.1093C>T (p.Pro365Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| X | g.151181418C>A | CA415270215 | GPR50 | c.1835C>A (p.Pro612His) c.1829C>A (p.Pro610His) c.1094C>A (p.Pro365His) | gnomAD v4 |
| X | g.151181418C>G | CA415270216 | GPR50 | c.1835C>G (p.Pro612Arg) c.1829C>G (p.Pro610Arg) c.1094C>G (p.Pro365Arg) | |
| X | g.151181418C>T | CA415270217 | GPR50 | c.1835C>T (p.Pro612Leu) c.1829C>T (p.Pro610Leu) c.1094C>T (p.Pro365Leu) | gnomAD v4 |
| X | g.151181419del | CA2824189035 | GPR50 | c.1836del (p.Asp613MetfsTer?) c.1830del (p.Asp611MetfsTer?) c.1095del (p.Asp366MetfsTer29) | |
| X | g.151181419T>A | CA519131797 | GPR50 | c.1836T>A (p.Pro612=) c.1830T>A (p.Pro610=) c.1095T>A (p.Pro365=) | |
| X | g.151181419T>C | CA519131798 | GPR50 | c.1836T>C (p.Pro612=) c.1830T>C (p.Pro610=) c.1095T>C (p.Pro365=) | gnomAD v4 |
| X | g.151181419T>G | CA519131799 | GPR50 | c.1836T>G (p.Pro612=) c.1830T>G (p.Pro610=) c.1095T>G (p.Pro365=) | |
| X | g.151181420G>A | CA415270219 | GPR50 | c.1837G>A (p.Asp613Asn) c.1831G>A (p.Asp611Asn) c.1096G>A (p.Asp366Asn) | gnomAD v4 |
| X | g.151181420G>C | CA415270220 | GPR50 | c.1837G>C (p.Asp613His) c.1831G>C (p.Asp611His) c.1096G>C (p.Asp366His) | |
| X | g.151181420G>T | CA415270218 | GPR50 | c.1837G>T (p.Asp613Tyr) c.1831G>T (p.Asp611Tyr) c.1096G>T (p.Asp366Tyr) | gnomAD v4 |
| X | g.151181421A>C | CA415270223 | GPR50 | c.1838A>C (p.Asp613Ala) c.1832A>C (p.Asp611Ala) c.1097A>C (p.Asp366Ala) | |
| X | g.151181421A>G | CA415270221 | GPR50 | c.1838A>G (p.Asp613Gly) c.1832A>G (p.Asp611Gly) c.1097A>G (p.Asp366Gly) | |
| X | g.151181421A>T | CA415270222 | GPR50 | c.1838A>T (p.Asp613Val) c.1832A>T (p.Asp611Val) c.1097A>T (p.Asp366Val) | |
| X | g.151181422T>A | CA415270224 | GPR50 | c.1839T>A (p.Asp613Glu) c.1833T>A (p.Asp611Glu) c.1098T>A (p.Asp366Glu) | gnomAD v4 |
| X | g.151181422T>C | CA519131800 | GPR50 | c.1839T>C (p.Asp613=) c.1833T>C (p.Asp611=) c.1098T>C (p.Asp366=) | gnomAD v4 |
| X | g.151181422T>G | CA415270225 | GPR50 | c.1839T>G (p.Asp613Glu) c.1833T>G (p.Asp611Glu) c.1098T>G (p.Asp366Glu) | |
| X | g.151181423G>A | CA415270226 | GPR50 | c.1840G>A (p.Glu614Lys) c.1834G>A (p.Glu612Lys) c.1099G>A (p.Glu367Lys) | gnomAD v4 COSMIC |
| X | g.151181423G>C | CA415270227 | GPR50 | c.1840G>C (p.Glu614Gln) c.1834G>C (p.Glu612Gln) c.1099G>C (p.Glu367Gln) | |
| X | g.151181423G>T | CA415270228 | GPR50 | c.1840G>T (p.Glu614Ter) c.1834G>T (p.Glu612Ter) c.1099G>T (p.Glu367Ter) | gnomAD v4 COSMIC |
| X | g.151181424A>C | CA415270229 | GPR50 | c.1841A>C (p.Glu614Ala) c.1835A>C (p.Glu612Ala) c.1100A>C (p.Glu367Ala) | |
| X | g.151181424A>G | CA415270230 | GPR50 | c.1841A>G (p.Glu614Gly) c.1835A>G (p.Glu612Gly) c.1100A>G (p.Glu367Gly) | gnomAD v4 |
| X | g.151181424A>T | CA415270231 | GPR50 | c.1841A>T (p.Glu614Val) c.1835A>T (p.Glu612Val) c.1100A>T (p.Glu367Val) | |
| X | g.151181426dup | CA2739146383 | GPR50 | c.1843dup (p.Met615AsnfsTer?) c.1837dup (p.Met613AsnfsTer?) c.1102dup (p.Met368AsnfsTer?) | dbSNP |
| X | g.151181426del | CA2694945943 | GPR50 | c.1843del (p.Met615TrpfsTer?) c.1837del (p.Met613TrpfsTer?) c.1102del (p.Met368TrpfsTer27) | gnomAD v4 |
| X | g.151181425A>C | CA415270232 | GPR50 | c.1842A>C (p.Glu614Asp) c.1836A>C (p.Glu612Asp) c.1101A>C (p.Glu367Asp) | |
| X | g.151181425A>G | CA519131801 | GPR50 | c.1842A>G (p.Glu614=) c.1836A>G (p.Glu612=) c.1101A>G (p.Glu367=) | gnomAD v4 |
| X | g.151181425A>T | CA415270233 | GPR50 | c.1842A>T (p.Glu614Asp) c.1836A>T (p.Glu612Asp) c.1101A>T (p.Glu367Asp) | |
| X | g.151181426A>C | CA415270234 | GPR50 | c.1843A>C (p.Met615Leu) c.1837A>C (p.Met613Leu) c.1102A>C (p.Met368Leu) | |
| X | g.151181426A>G | CA415270236 | GPR50 | c.1843A>G (p.Met615Val) c.1837A>G (p.Met613Val) c.1102A>G (p.Met368Val) | |
| X | g.151181426A>T | CA415270235 | GPR50 | c.1843A>T (p.Met615Leu) c.1837A>T (p.Met613Leu) c.1102A>T (p.Met368Leu) | |
| X | g.151181427T>A | CA415270237 | GPR50 | c.1844T>A (p.Met615Lys) c.1838T>A (p.Met613Lys) c.1103T>A (p.Met368Lys) | |
| X | g.151181427T>C | CA415270238 | GPR50 | c.1844T>C (p.Met615Thr) c.1838T>C (p.Met613Thr) c.1103T>C (p.Met368Thr) | |
| X | g.151181427T>G | CA415270239 | GPR50 | c.1844T>G (p.Met615Arg) c.1838T>G (p.Met613Arg) c.1103T>G (p.Met368Arg) | |
| X | g.151181427_151181436del | CA2694945944 | GPR50 | c.1844_1853del (p.Met615LysfsTer?) c.1838_1847del (p.Met613=) c.1103_1112del (p.Met368LysfsTer24) | gnomAD v4 |
| X | g.151181428G>A | CA415270240 | GPR50 | c.1845G>A (p.Met615Ile) c.1839G>A (p.Met613Ile) c.1104G>A (p.Met368Ile) | |
| X | g.151181428G>C | CA415270241 | GPR50 | c.1845G>C (p.Met615Ile) c.1839G>C (p.Met613Ile) c.1104G>C (p.Met368Ile) | |
| X | g.151181428G>T | CA415270242 | GPR50 | c.1845G>T (p.Met615Ile) c.1839G>T (p.Met613Ile) c.1104G>T (p.Met368Ile) | gnomAD v4 |
| X | g.151181429G>A | CA415270243 | GPR50 | c.1846G>A (p.Ala616Thr) c.1840G>A (p.Ala614Thr) c.1105G>A (p.Ala369Thr) | gnomAD v4 |
| X | g.151181429G>C | CA415270244 | GPR50 | c.1846G>C (p.Ala616Pro) c.1840G>C (p.Ala614Pro) c.1105G>C (p.Ala369Pro) | |
| X | g.151181429G>T | CA415270245 | GPR50 | c.1846G>T (p.Ala616Ser) c.1840G>T (p.Ala614Ser) c.1105G>T (p.Ala369Ser) | gnomAD v4 |
| X | g.151181430C>A | CA415270247 | GPR50 | c.1847C>A (p.Ala616Asp) c.1841C>A (p.Ala614Asp) c.1106C>A (p.Ala369Asp) | gnomAD v4 |
| X | g.151181430C>G | CA415270248 | GPR50 | c.1847C>G (p.Ala616Gly) c.1841C>G (p.Ala614Gly) c.1106C>G (p.Ala369Gly) | |
| X | g.151181430C>T | CA415270246 | GPR50 | c.1847C>T (p.Ala616Val) c.1841C>T (p.Ala614Val) c.1106C>T (p.Ala369Val) | gnomAD v4 |
| X | g.151181431T>A | CA519131802 | GPR50 | c.1848T>A (p.Ala616=) c.1842T>A (p.Ala614=) c.1107T>A (p.Ala369=) | |
| X | g.151181431T>C | CA519131804 | GPR50 | c.1848T>C (p.Ala616=) c.1842T>C (p.Ala614=) c.1107T>C (p.Ala369=) | |
| X | g.151181431T>G | CA519131803 | GPR50 | c.1848T>G (p.Ala616=) c.1842T>G (p.Ala614=) c.1107T>G (p.Ala369=) | |
| X | g.151181435_151181436del | CA2579722667 | GPR50 | c.1852_1853del (p.Ter618LysextTer?) c.1846_1847del (p.Ter616=) c.1111_1112del (p.Ter371LysextTer30) | gnomAD v4 |
| X | g.151181432G>A | CA10540490 | GPR50 | c.1849G>A (p.Val617Met) c.1843G>A (p.Val615Met) c.1108G>A (p.Val370Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.151181432G>C | CA415270249 | GPR50 | c.1849G>C (p.Val617Leu) c.1843G>C (p.Val615Leu) c.1108G>C (p.Val370Leu) | |
| X | g.151181432G= | CA2465564839 | GPR50 | c.1849G= (p.Val617=) c.1843G= (p.Val615=) c.1108G= (p.Val370=) | |
| X | g.151181432G>T | CA415270250 | GPR50 | c.1849G>T (p.Val617Leu) c.1843G>T (p.Val615Leu) c.1108G>T (p.Val370Leu) | gnomAD v4 |
| X | g.151181433T>A | CA415270251 | GPR50 | c.1850T>A (p.Val617Glu) c.1844T>A (p.Val615Glu) c.1109T>A (p.Val370Glu) | |
| X | g.151181433T>C | CA415270252 | GPR50 | c.1850T>C (p.Val617Ala) c.1844T>C (p.Val615Ala) c.1109T>C (p.Val370Ala) | gnomAD v4 |
| X | g.151181433T>G | CA415270253 | GPR50 | c.1850T>G (p.Val617Gly) c.1844T>G (p.Val615Gly) c.1109T>G (p.Val370Gly) | |
| X | g.151181434G>A | CA519131805 | GPR50 | c.1851G>A (p.Val617=) c.1845G>A (p.Val615=) c.1110G>A (p.Val370=) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.151181434G>C | CA519131806 | GPR50 | c.1851G>C (p.Val617=) c.1845G>C (p.Val615=) c.1110G>C (p.Val370=) | |
| X | g.151181434G= | CA2465564840 | GPR50 | c.1851G= (p.Val617=) c.1845G= (p.Val615=) c.1110G= (p.Val370=) | |
| X | g.151181434G>T | CA519131807 | GPR50 | c.1851G>T (p.Val617=) c.1845G>T (p.Val615=) c.1110G>T (p.Val370=) | gnomAD v4 |
| X | g.151181435T>A | CA415270254 | GPR50 | c.1852T>A (p.Ter618Arg) c.1846T>A (p.Ter616Arg) c.1111T>A (p.Ter371Arg) | |
| X | g.151181435T>C | CA415270255 | GPR50 | c.1852T>C (p.Ter618Arg) c.1846T>C (p.Ter616Arg) c.1111T>C (p.Ter371Arg) | |
| X | g.151181435T>G | CA415270256 | GPR50 | c.1852T>G (p.Ter618Gly) c.1846T>G (p.Ter616Gly) c.1111T>G (p.Ter371Gly) | |
| X | g.151181436G>A | CA519131808 | GPR50 | c.1853G>A (p.Ter618=) c.1847G>A (p.Ter616=) c.1112G>A (p.Ter371=) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.151181436G>C | CA415270257 | GPR50 | c.1853G>C (p.Ter618Ser) c.1847G>C (p.Ter616Ser) c.1112G>C (p.Ter371Ser) | |
| X | g.151181436G= | CA2465564841 | GPR50 | c.1853G= (p.Ter618=) c.1847G= (p.Ter616=) c.1112G= (p.Ter371=) | |
| X | g.151181436G>T | CA415270258 | GPR50 | c.1853G>T (p.Ter618Leu) c.1847G>T (p.Ter616Leu) c.1112G>T (p.Ter371Leu) | gnomAD v4 |
| X | g.151181437A= | CA2465564842 | GPR50 | c.1854A= (p.Ter618=) c.1848A= (p.Ter616=) c.1113A= (p.Ter371=) | |
| X | g.151181437A>C | CA415270260 | GPR50 | c.1854A>C (p.Ter618Cys) c.1848A>C (p.Ter616Cys) c.1113A>C (p.Ter371Cys) | |
| X | g.151181437A>G | CA10540491 | GPR50 | c.1854A>G (p.Ter618Trp) c.1848A>G (p.Ter616Trp) c.1113A>G (p.Ter371Trp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.151181437A>T | CA415270259 | GPR50 | c.1854A>T (p.Ter618Cys) c.1848A>T (p.Ter616Cys) c.1113A>T (p.Ter371Cys) | |
| X | g.151181441_151181442insGAAAAAAAAA | CA2824189036 | GPR50 | c.*4_*5insGAAAAAAAAA (n.*4_*5insGAAAAAAAAA) | |
| X | g.151181441dup | CA2694945945 | GPR50 | c.*4dup (n.*4dup) | gnomAD v4 |
| X | g.151181441del | CA2579722668 | GPR50 | c.*4del (n.*4del) | gnomAD v4 |
| X | g.151181441A>G | CA2694945946 | GPR50 | c.*4A>G (n.*4A>G) | gnomAD v4 |
| X | g.151181443G>A | CA2694945947 | GPR50 | c.*6G>A (n.*6G>A) | gnomAD v4 |
| X | g.151181444C>A | CA2694945949 | GPR50 | c.*7C>A (n.*7C>A) | gnomAD v4 |
| X | g.151181444C= | CA2465564843 | GPR50 | c.*7C= (n.*7C=) | |
| X | g.151181444C>G | CA10540492 | GPR50 | c.*7C>G (n.*7C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.151181444C>T | CA2694945948 | GPR50 | c.*7C>T (n.*7C>T) | gnomAD v4 |
| X | g.151181446C>A | CA2694945950 | GPR50 | c.*9C>A (n.*9C>A) | gnomAD v4 |
| X | g.151181446C= | CA2465564844 | GPR50 | c.*9C= (n.*9C=) | |
| X | g.151181446C>T | CA10540493 | GPR50 | c.*9C>T (n.*9C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.151181448C>A | CA2694945952 | GPR50 | c.*11C>A (n.*11C>A) | gnomAD v4 |
| X | g.151181448C= | CA2465564845 | GPR50 | c.*11C= (n.*11C=) | |
| X | g.151181448C>T | CA10540494 | GPR50 | c.*11C>T (n.*11C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.151181449_151181470del | CA2694945951 | GPR50 | c.*12_*33del (n.*12_*33del) | gnomAD v4 |
| X | g.151181449G>A | CA10540495 | GPR50 | c.*12G>A (n.*12G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.151181449G>C | CA2694945953 | GPR50 | c.*12G>C (n.*12G>C) | gnomAD v4 |
| X | g.151181449G= | CA2465564846 | GPR50 | c.*12G= (n.*12G=) | |
| X | g.151181452G>C | CA10540496 | GPR50 | c.*15G>C (n.*15G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.151181452G= | CA2465564847 | GPR50 | c.*15G= (n.*15G=) | |
| X | g.151181453G>A | CA2694945954 | GPR50 | c.*16G>A (n.*16G>A) | gnomAD v4 |
| X | g.151181453G= | CA2465564848 | GPR50 | c.*16G= (n.*16G=) | |
| X | g.151181453G>T | CA645127942 | GPR50 | c.*16G>T (n.*16G>T) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.151181454T>C | CA2465564850 | GPR50 | c.*17T>C (n.*17T>C) | dbSNP |
| X | g.151181454T= | CA2465564849 | GPR50 | c.*17T= (n.*17T=) | |
| X | g.151181455G>A | CA2507062599 | GPR50 | c.*18G>A (n.*18G>A) | gnomAD v4 |
| X | g.151181456G>A | CA2694945955 | GPR50 | c.*19G>A (n.*19G>A) | gnomAD v4 |
| X | g.151181456G= | CA2465564851 | GPR50 | c.*19G= (n.*19G=) | |
| X | g.151181456G>T | CA2465564852 | GPR50 | c.*19G>T (n.*19G>T) | dbSNP gnomAD v4 |
| X | g.151181457C>A | CA2579722670 | GPR50 | c.*20C>A (n.*20C>A) | gnomAD v4 |
| X | g.151181457C>T | CA2694945956 | GPR50 | c.*20C>T (n.*20C>T) | gnomAD v4 |
| X | g.151181458del | CA2579722669 | GPR50 | c.*21del (n.*21del) | gnomAD v4 |
| X | g.151181458C>A | CA2694945957 | GPR50 | c.*21C>A (n.*21C>A) | gnomAD v4 |
| X | g.151181458C>T | CA2694945958 | GPR50 | c.*21C>T (n.*21C>T) | gnomAD v4 |
| X | g.151181461_151181464del | CA2579722671 | GPR50 | c.*24_*27del (n.*24_*27del) | |
| X | g.151181459A= | CA2465564853 | GPR50 | c.*22A= (n.*22A=) | |
| X | g.151181459A>G | CA10540497 | GPR50 | c.*22A>G (n.*22A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.151181460G>A | CA873053187 | GPR50 | c.*23G>A (n.*23G>A) | dbSNP |
| X | g.151181460G= | CA2465564854 | GPR50 | c.*23G= (n.*23G=) | |
| X | g.151181460G>T | CA2694945959 | GPR50 | c.*23G>T (n.*23G>T) | gnomAD v4 |
| X | g.151181461G>A | CA2579722672 | GPR50 | c.*24G>A (n.*24G>A) | gnomAD v4 |
| X | g.151181461_151181462insTTGAAGT | CA2539996668 | GPR50 | c.*24_*25insTTGAAGT (n.*24_*25insTTGAAGT) | |
| X | g.151181461_151181462insTTGAAGTCGTA | CA2824189037 | GPR50 | c.*24_*25insTTGAAGTCGTA (n.*24_*25insTTGAAGTCGTA) | |
| X | g.151181462C>A | CA2694945960 | GPR50 | c.*25C>A (n.*25C>A) | gnomAD v4 |
| X | g.151181462C>T | CA2694945961 | GPR50 | c.*25C>T (n.*25C>T) | gnomAD v4 |
| X | g.151181462_151181463insGTACAGGCTCGTCTCGGAGCGGCGCCCGTTGACGGTCGCCCGGCCGCCGTGCAGGACCATTCGAATGTCACCACTGACGTAGCGCTGCGTGTCCTCGATGAAGGCGTCCATGGAGCGCTTG | CA2539260279 | GPR50 | c.*25_*26insGTACAGGCTCGTCTCGGAGCGGCGCCCGTTGACGGTCGCCCGGCCGCCGTGCAGGACCATTCGAATGTCACCACTGACGTAGCGCTGCGTGTCCTCGATGAAGGCGTCCATGGAGCGCTTG (n.*25_*26insGTACAGGCTCGTCTCGGAGCGGCGCCCGTTGACGGTCGCCCGGCCGCCGTGCAGGACCATTCGAATGTCACCACTGACGTAGCGCTGCGTGTCCTCGATGAAGGCGTCCATGGAGCGCTTG) | |
| X | g.151181462_151181463insGTACAGGCCCGTCTCGGAGCGGCGGCCGTTGACGGTCGCCCGACCGCCGTGCAGGACCATGCGAATATCACCGTTGACGTAGCGCTGCGTGTCCTCGATGAAGGCGTCCATGGAGCGCTTG | CA2552577507 | GPR50 | c.*25_*26insGTACAGGCCCGTCTCGGAGCGGCGGCCGTTGACGGTCGCCCGACCGCCGTGCAGGACCATGCGAATATCACCGTTGACGTAGCGCTGCGTGTCCTCGATGAAGGCGTCCATGGAGCGCTTG (n.*25_*26insGTACAGGCCCGTCTCGGAGCGGCGGCCGTTGACGGTCGCCCGACCGCCGTGCAGGACCATGCGAATATCACCGTTGACGTAGCGCTGCGTGTCCTCGATGAAGGCGTCCATGGAGCGCTTG) | |
| X | g.151181463A>G | CA2694945962 | GPR50 | c.*26A>G (n.*26A>G) | gnomAD v4 |
| X | g.151181464G>A | CA2694945963 | GPR50 | c.*27G>A (n.*27G>A) | gnomAD v4 |
| X | g.151181464_151181465insGCCCGTCTCGGAGCGGCGCCCGTTGACGGTCGCCCGACCGCCGTGCAGGATCATGCGAATATCACCG | CA2824189038 | GPR50 | c.*27_*28insGCCCGTCTCGGAGCGGCGCCCGTTGACGGTCGCCCGACCGCCGTGCAGGATCATGCGAATATCACCG (n.*27_*28insGCCCGTCTCGGAGCGGCGCCCGTTGACGGTCGCCCGACCGCCGTGCAGGATCATGCGAATATCACCG) | |
| X | g.151181465T>A | CA2694945964 | GPR50 | c.*28T>A (n.*28T>A) | gnomAD v4 |
| X | g.151181466G= | CA2465564855 | GPR50 | c.*29G= (n.*29G=) | |
| X | g.151181466G>T | CA10540498 | GPR50 | c.*29G>T (n.*29G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.151181467del | CA2579722673 | GPR50 | c.*30del (n.*30del) | |
| X | g.151181467G>A | CA2579722674 | GPR50 | c.*30G>A (n.*30G>A) | gnomAD v4 |
| X | g.151181468T>C | CA2694945965 | GPR50 | c.*31T>C (n.*31T>C) | gnomAD v4 |
| X | g.151181468T= | CA2465564856 | GPR50 | c.*31T= (n.*31T=) | |
| X | g.151181469C>A | CA10540499 | GPR50 | c.*32C>A (n.*32C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.151181469C= | CA2465564857 | GPR50 | c.*32C= (n.*32C=) | |
| X | g.151181472dup | CA1138401202 | GPR50 | c.*35dup (n.*35dup) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.151181472del | CA2694945966 | GPR50 | c.*35del (n.*35del) | gnomAD v4 |
| X | g.151181470C>A | CA2694945967 | GPR50 | c.*33C>A (n.*33C>A) | gnomAD v4 |
| X | g.151181470C>T | CA2694945968 | GPR50 | c.*33C>T (n.*33C>T) | gnomAD v4 |
| X | g.151181471C>A | CA2694945969 | GPR50 | c.*34C>A (n.*34C>A) | gnomAD v4 |
| X | g.151181471C= | CA2465564858 | GPR50 | c.*34C= (n.*34C=) | |
| X | g.151181471C>T | CA337198658 | GPR50 | c.*34C>T (n.*34C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.151181472C>A | CA2564295883 | GPR50 | c.*35C>A (n.*35C>A) | gnomAD v4 |
| X | g.151181472C= | CA2465564859 | GPR50 | c.*35C= (n.*35C=) | |
| X | g.151181472C>G | CA337198664 | GPR50 | c.*35C>G (n.*35C>G) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.151181473T>A | CA2694945970 | GPR50 | c.*36T>A (n.*36T>A) | gnomAD v4 |
| X | g.151181473T>C | CA2694945971 | GPR50 | c.*36T>C (n.*36T>C) | gnomAD v4 |
| X | g.151181474T>A | CA2694945972 | GPR50 | c.*37T>A (n.*37T>A) | gnomAD v4 |
| X | g.151181474T>C | CA2694945973 | GPR50 | c.*37T>C (n.*37T>C) | gnomAD v4 |
| X | g.151181474_151181475insA | CA2694945974 | GPR50 | c.*37_*38insA (n.*37_*38insA) | gnomAD v4 |
| X | g.151181476C>A | CA2694945975 | GPR50 | c.*39C>A (n.*39C>A) | gnomAD v4 |
| X | g.151181476C= | CA2465564860 | GPR50 | c.*39C= (n.*39C=) | |
| X | g.151181476C>G | CA2465564861 | GPR50 | c.*39C>G (n.*39C>G) | dbSNP |
| X | g.151181476C>T | CA2694945976 | GPR50 | c.*39C>T (n.*39C>T) | gnomAD v4 |
| X | g.151181477del | CA2579722675 | GPR50 | c.*40del (n.*40del) | |
| X | g.151181477T>C | CA2579722676 | GPR50 | c.*40T>C (n.*40T>C) | gnomAD v4 |
| X | g.151181478A= | CA2465564862 | GPR50 | c.*41A= (n.*41A=) | |
| X | g.151181478A>G | CA645127943 | GPR50 | c.*41A>G (n.*41A>G) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.151181478A>T | CA2528693879 | GPR50 | c.*41A>T (n.*41A>T) | |
| X | g.151181483del | CA2579722677 | GPR50 | c.*46del (n.*46del) | |
| X | g.151181483G>A | CA2694945978 | GPR50 | c.*46G>A (n.*46G>A) | gnomAD v4 |
| X | g.151181483G>T | CA2694945977 | GPR50 | c.*46G>T (n.*46G>T) | gnomAD v4 |
| X | g.151181484T>G | CA2694945979 | GPR50 | c.*47T>G (n.*47T>G) | gnomAD v4 |
| X | g.151181485T>A | CA2694945980 | GPR50 | c.*48T>A (n.*48T>A) | gnomAD v4 |
| X | g.151181485T>C | CA2694945981 | GPR50 | c.*48T>C (n.*48T>C) | gnomAD v4 |
| X | g.151181488G>A | CA2694945982 | GPR50 | c.*51G>A (n.*51G>A) | gnomAD v4 |
| X | g.151181489C>A | CA2694945983 | GPR50 | c.*52C>A (n.*52C>A) | gnomAD v4 |
| X | g.151181489C>T | CA2694945984 | GPR50 | c.*52C>T (n.*52C>T) | gnomAD v4 |
| X | g.151181490A= | CA2465564863 | GPR50 | c.*53A= (n.*53A=) | |
| X | g.151181490A>G | CA873053207 | GPR50 | c.*53A>G (n.*53A>G) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.151181490A>T | CA2694945985 | GPR50 | c.*53A>T (n.*53A>T) | gnomAD v4 |
| X | g.151181492A= | CA2465564864 | GPR50 | c.*55A= (n.*55A=) | |
| X | g.151181492A>G | CA2465564865 | GPR50 | c.*55A>G (n.*55A>G) | dbSNP gnomAD v4 |
| X | g.151181493T>C | CA337198683 | GPR50 | c.*56T>C (n.*56T>C) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.151181493T= | CA2465564866 | GPR50 | c.*56T= (n.*56T=) | |
| X | g.151181495T>A | CA2579722678 | GPR50 | c.*58T>A (n.*58T>A) | gnomAD v4 |
| X | g.151181495T>C | CA2465564868 | GPR50 | c.*58T>C (n.*58T>C) | dbSNP gnomAD v4 |
| X | g.151181495T= | CA2465564867 | GPR50 | c.*58T= (n.*58T=) | |
| X | g.151181496A= | CA2465564869 | GPR50 | c.*59A= (n.*59A=) | |
| X | g.151181496A>C | CA1138401229 | GPR50 | c.*59A>C (n.*59A>C) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.151181499C>A | CA2579722679 | GPR50 | c.*62C>A (n.*62C>A) | gnomAD v4 |