Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.53801202T>A | CA353250426 | CACNA1D | c.5245T>A (p.Phe1749Ile) n.2194-10T>A n.620T>A c.5185T>A (p.Phe1729Ile) c.5140T>A (p.Phe1714Ile) c.1316-10T>A n.541T>A n.612T>A c.5212T>A (p.Phe1738Ile) c.4264T>A (p.Phe1422Ile) c.5440T>A (p.Phe1814Ile) c.5329T>A (p.Phe1777Ile) c.5251T>A (p.Phe1751Ile) c.4903T>A (p.Phe1635Ile) c.4528T>A (p.Phe1510Ile) c.5335T>A (p.Phe1779Ile) c.5437T>A (p.Phe1813Ile) c.5380T>A (p.Phe1794Ile) c.5356T>A (p.Phe1786Ile) c.5311T>A (p.Phe1771Ile) | |
3 | g.53801202T>C | CA353250428 | CACNA1D | c.5245T>C (p.Phe1749Leu) n.2194-10T>C n.620T>C c.5185T>C (p.Phe1729Leu) c.5140T>C (p.Phe1714Leu) c.1316-10T>C n.541T>C n.612T>C c.5212T>C (p.Phe1738Leu) c.4264T>C (p.Phe1422Leu) c.5440T>C (p.Phe1814Leu) c.5329T>C (p.Phe1777Leu) c.5251T>C (p.Phe1751Leu) c.4903T>C (p.Phe1635Leu) c.4528T>C (p.Phe1510Leu) c.5335T>C (p.Phe1779Leu) c.5437T>C (p.Phe1813Leu) c.5380T>C (p.Phe1794Leu) c.5356T>C (p.Phe1786Leu) c.5311T>C (p.Phe1771Leu) | |
3 | g.53801202T>G | CA353250432 | CACNA1D | c.5245T>G (p.Phe1749Val) n.2194-10T>G n.620T>G c.5185T>G (p.Phe1729Val) c.5140T>G (p.Phe1714Val) c.1316-10T>G n.541T>G n.612T>G c.5212T>G (p.Phe1738Val) c.4264T>G (p.Phe1422Val) c.5440T>G (p.Phe1814Val) c.5329T>G (p.Phe1777Val) c.5251T>G (p.Phe1751Val) c.4903T>G (p.Phe1635Val) c.4528T>G (p.Phe1510Val) c.5335T>G (p.Phe1779Val) c.5437T>G (p.Phe1813Val) c.5380T>G (p.Phe1794Val) c.5356T>G (p.Phe1786Val) c.5311T>G (p.Phe1771Val) | |
3 | g.53801203T>A | CA353250437 | CACNA1D | c.5246T>A (p.Phe1749Tyr) n.2194-9T>A n.621T>A c.5186T>A (p.Phe1729Tyr) c.5141T>A (p.Phe1714Tyr) c.1316-9T>A n.542T>A n.613T>A c.5213T>A (p.Phe1738Tyr) c.4265T>A (p.Phe1422Tyr) c.5441T>A (p.Phe1814Tyr) c.5330T>A (p.Phe1777Tyr) c.5252T>A (p.Phe1751Tyr) c.4904T>A (p.Phe1635Tyr) c.4529T>A (p.Phe1510Tyr) c.5336T>A (p.Phe1779Tyr) c.5438T>A (p.Phe1813Tyr) c.5381T>A (p.Phe1794Tyr) c.5357T>A (p.Phe1786Tyr) c.5312T>A (p.Phe1771Tyr) | |
3 | g.53801203T>C | CA353250438 | CACNA1D | c.5246T>C (p.Phe1749Ser) n.2194-9T>C n.621T>C c.5186T>C (p.Phe1729Ser) c.5141T>C (p.Phe1714Ser) c.1316-9T>C n.542T>C n.613T>C c.5213T>C (p.Phe1738Ser) c.4265T>C (p.Phe1422Ser) c.5441T>C (p.Phe1814Ser) c.5330T>C (p.Phe1777Ser) c.5252T>C (p.Phe1751Ser) c.4904T>C (p.Phe1635Ser) c.4529T>C (p.Phe1510Ser) c.5336T>C (p.Phe1779Ser) c.5438T>C (p.Phe1813Ser) c.5381T>C (p.Phe1794Ser) c.5357T>C (p.Phe1786Ser) c.5312T>C (p.Phe1771Ser) | |
3 | g.53801203T>G | CA353250441 | CACNA1D | c.5246T>G (p.Phe1749Cys) n.2194-9T>G n.621T>G c.5186T>G (p.Phe1729Cys) c.5141T>G (p.Phe1714Cys) c.1316-9T>G n.542T>G n.613T>G c.5213T>G (p.Phe1738Cys) c.4265T>G (p.Phe1422Cys) c.5441T>G (p.Phe1814Cys) c.5330T>G (p.Phe1777Cys) c.5252T>G (p.Phe1751Cys) c.4904T>G (p.Phe1635Cys) c.4529T>G (p.Phe1510Cys) c.5336T>G (p.Phe1779Cys) c.5438T>G (p.Phe1813Cys) c.5381T>G (p.Phe1794Cys) c.5357T>G (p.Phe1786Cys) c.5312T>G (p.Phe1771Cys) | |
3 | g.53801204T>A | CA353250443 | CACNA1D | c.5247T>A (p.Phe1749Leu) n.2194-8T>A n.622T>A c.5187T>A (p.Phe1729Leu) c.5142T>A (p.Phe1714Leu) c.1316-8T>A n.543T>A n.614T>A c.5214T>A (p.Phe1738Leu) c.4266T>A (p.Phe1422Leu) c.5442T>A (p.Phe1814Leu) c.5331T>A (p.Phe1777Leu) c.5253T>A (p.Phe1751Leu) c.4905T>A (p.Phe1635Leu) c.4530T>A (p.Phe1510Leu) c.5337T>A (p.Phe1779Leu) c.5439T>A (p.Phe1813Leu) c.5382T>A (p.Phe1794Leu) c.5358T>A (p.Phe1786Leu) c.5313T>A (p.Phe1771Leu) | |
3 | g.53801204T>C | CA433896028 | CACNA1D | c.5247T>C (p.Phe1749=) n.2194-8T>C n.622T>C c.5187T>C (p.Phe1729=) c.5142T>C (p.Phe1714=) c.1316-8T>C n.543T>C n.614T>C c.5214T>C (p.Phe1738=) c.4266T>C (p.Phe1422=) c.5442T>C (p.Phe1814=) c.5331T>C (p.Phe1777=) c.5253T>C (p.Phe1751=) c.4905T>C (p.Phe1635=) c.4530T>C (p.Phe1510=) c.5337T>C (p.Phe1779=) c.5439T>C (p.Phe1813=) c.5382T>C (p.Phe1794=) c.5358T>C (p.Phe1786=) c.5313T>C (p.Phe1771=) | COSMIC COSMIC |
3 | g.53801204T>G | CA353250447 | CACNA1D | c.5247T>G (p.Phe1749Leu) n.2194-8T>G n.622T>G c.5187T>G (p.Phe1729Leu) c.5142T>G (p.Phe1714Leu) c.1316-8T>G n.543T>G n.614T>G c.5214T>G (p.Phe1738Leu) c.4266T>G (p.Phe1422Leu) c.5442T>G (p.Phe1814Leu) c.5331T>G (p.Phe1777Leu) c.5253T>G (p.Phe1751Leu) c.4905T>G (p.Phe1635Leu) c.4530T>G (p.Phe1510Leu) c.5337T>G (p.Phe1779Leu) c.5439T>G (p.Phe1813Leu) c.5382T>G (p.Phe1794Leu) c.5358T>G (p.Phe1786Leu) c.5313T>G (p.Phe1771Leu) | |
3 | g.53801205C>A | CA353250451 | CACNA1D | c.5248C>A (p.Pro1750Thr) n.2194-7C>A n.623C>A c.5188C>A (p.Pro1730Thr) c.5143C>A (p.Pro1715Thr) c.1316-7C>A n.544C>A n.615C>A c.5215C>A (p.Pro1739Thr) c.4267C>A (p.Pro1423Thr) c.5443C>A (p.Pro1815Thr) c.5332C>A (p.Pro1778Thr) c.5254C>A (p.Pro1752Thr) c.4906C>A (p.Pro1636Thr) c.4531C>A (p.Pro1511Thr) c.5338C>A (p.Pro1780Thr) c.5440C>A (p.Pro1814Thr) c.5383C>A (p.Pro1795Thr) c.5359C>A (p.Pro1787Thr) c.5314C>A (p.Pro1772Thr) | |
3 | g.53801205C= | CA1365484165 | CACNA1D | c.5248C= (p.Pro1750=) n.2194-7C= n.623C= c.5188C= (p.Pro1730=) c.5143C= (p.Pro1715=) c.1316-7C= n.544C= n.615C= c.5215C= (p.Pro1739=) c.4267C= (p.Pro1423=) c.5443C= (p.Pro1815=) c.5332C= (p.Pro1778=) c.5254C= (p.Pro1752=) c.4906C= (p.Pro1636=) c.4531C= (p.Pro1511=) c.5338C= (p.Pro1780=) c.5440C= (p.Pro1814=) c.5383C= (p.Pro1795=) c.5359C= (p.Pro1787=) c.5314C= (p.Pro1772=) | |
3 | g.53801205C>G | CA353250452 | CACNA1D | c.5248C>G (p.Pro1750Ala) n.2194-7C>G n.623C>G c.5188C>G (p.Pro1730Ala) c.5143C>G (p.Pro1715Ala) c.1316-7C>G n.544C>G n.615C>G c.5215C>G (p.Pro1739Ala) c.4267C>G (p.Pro1423Ala) c.5443C>G (p.Pro1815Ala) c.5332C>G (p.Pro1778Ala) c.5254C>G (p.Pro1752Ala) c.4906C>G (p.Pro1636Ala) c.4531C>G (p.Pro1511Ala) c.5338C>G (p.Pro1780Ala) c.5440C>G (p.Pro1814Ala) c.5383C>G (p.Pro1795Ala) c.5359C>G (p.Pro1787Ala) c.5314C>G (p.Pro1772Ala) | |
3 | g.53801205C>T | CA353250456 | CACNA1D | c.5248C>T (p.Pro1750Ser) n.2194-7C>T n.623C>T c.5188C>T (p.Pro1730Ser) c.5143C>T (p.Pro1715Ser) c.1316-7C>T n.544C>T n.615C>T c.5215C>T (p.Pro1739Ser) c.4267C>T (p.Pro1423Ser) c.5443C>T (p.Pro1815Ser) c.5332C>T (p.Pro1778Ser) c.5254C>T (p.Pro1752Ser) c.4906C>T (p.Pro1636Ser) c.4531C>T (p.Pro1511Ser) c.5338C>T (p.Pro1780Ser) c.5440C>T (p.Pro1814Ser) c.5383C>T (p.Pro1795Ser) c.5359C>T (p.Pro1787Ser) c.5314C>T (p.Pro1772Ser) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.53801206C>A | CA353250459 | CACNA1D | c.5249C>A (p.Pro1750His) n.2194-6C>A n.624C>A c.5189C>A (p.Pro1730His) c.5144C>A (p.Pro1715His) c.1316-6C>A n.545C>A n.616C>A c.5216C>A (p.Pro1739His) c.4268C>A (p.Pro1423His) c.5444C>A (p.Pro1815His) c.5333C>A (p.Pro1778His) c.5255C>A (p.Pro1752His) c.4907C>A (p.Pro1636His) c.4532C>A (p.Pro1511His) c.5339C>A (p.Pro1780His) c.5441C>A (p.Pro1814His) c.5384C>A (p.Pro1795His) c.5360C>A (p.Pro1787His) c.5315C>A (p.Pro1772His) | COSMIC COSMIC |
3 | g.53801206C>G | CA353250462 | CACNA1D | c.5249C>G (p.Pro1750Arg) n.2194-6C>G n.624C>G c.5189C>G (p.Pro1730Arg) c.5144C>G (p.Pro1715Arg) c.1316-6C>G n.545C>G n.616C>G c.5216C>G (p.Pro1739Arg) c.4268C>G (p.Pro1423Arg) c.5444C>G (p.Pro1815Arg) c.5333C>G (p.Pro1778Arg) c.5255C>G (p.Pro1752Arg) c.4907C>G (p.Pro1636Arg) c.4532C>G (p.Pro1511Arg) c.5339C>G (p.Pro1780Arg) c.5441C>G (p.Pro1814Arg) c.5384C>G (p.Pro1795Arg) c.5360C>G (p.Pro1787Arg) c.5315C>G (p.Pro1772Arg) | |
3 | g.53801206C>T | CA353250464 | CACNA1D | c.5249C>T (p.Pro1750Leu) n.2194-6C>T n.624C>T c.5189C>T (p.Pro1730Leu) c.5144C>T (p.Pro1715Leu) c.1316-6C>T n.545C>T n.616C>T c.5216C>T (p.Pro1739Leu) c.4268C>T (p.Pro1423Leu) c.5444C>T (p.Pro1815Leu) c.5333C>T (p.Pro1778Leu) c.5255C>T (p.Pro1752Leu) c.4907C>T (p.Pro1636Leu) c.4532C>T (p.Pro1511Leu) c.5339C>T (p.Pro1780Leu) c.5441C>T (p.Pro1814Leu) c.5384C>T (p.Pro1795Leu) c.5360C>T (p.Pro1787Leu) c.5315C>T (p.Pro1772Leu) | |
3 | g.53801207T>A | CA433896032 | CACNA1D | c.5250T>A (p.Pro1750=) n.2194-5T>A n.625T>A c.5190T>A (p.Pro1730=) c.5145T>A (p.Pro1715=) c.1316-5T>A n.546T>A n.617T>A c.5217T>A (p.Pro1739=) c.4269T>A (p.Pro1423=) c.5445T>A (p.Pro1815=) c.5334T>A (p.Pro1778=) c.5256T>A (p.Pro1752=) c.4908T>A (p.Pro1636=) c.4533T>A (p.Pro1511=) c.5340T>A (p.Pro1780=) c.5442T>A (p.Pro1814=) c.5385T>A (p.Pro1795=) c.5361T>A (p.Pro1787=) c.5316T>A (p.Pro1772=) | |
3 | g.53801207T>C | CA433896033 | CACNA1D | c.5250T>C (p.Pro1750=) n.2194-5T>C n.625T>C c.5190T>C (p.Pro1730=) c.5145T>C (p.Pro1715=) c.1316-5T>C n.546T>C n.617T>C c.5217T>C (p.Pro1739=) c.4269T>C (p.Pro1423=) c.5445T>C (p.Pro1815=) c.5334T>C (p.Pro1778=) c.5256T>C (p.Pro1752=) c.4908T>C (p.Pro1636=) c.4533T>C (p.Pro1511=) c.5340T>C (p.Pro1780=) c.5442T>C (p.Pro1814=) c.5385T>C (p.Pro1795=) c.5361T>C (p.Pro1787=) c.5316T>C (p.Pro1772=) | |
3 | g.53801207T>G | CA433896035 | CACNA1D | c.5250T>G (p.Pro1750=) n.2194-5T>G n.625T>G c.5190T>G (p.Pro1730=) c.5145T>G (p.Pro1715=) c.1316-5T>G n.546T>G n.617T>G c.5217T>G (p.Pro1739=) c.4269T>G (p.Pro1423=) c.5445T>G (p.Pro1815=) c.5334T>G (p.Pro1778=) c.5256T>G (p.Pro1752=) c.4908T>G (p.Pro1636=) c.4533T>G (p.Pro1511=) c.5340T>G (p.Pro1780=) c.5442T>G (p.Pro1814=) c.5385T>G (p.Pro1795=) c.5361T>G (p.Pro1787=) c.5316T>G (p.Pro1772=) | |
3 | g.53801208C>A | CA353250468 | CACNA1D | c.5251C>A (p.Pro1751Thr) n.2194-4C>A n.626C>A c.5191C>A (p.Pro1731Thr) c.5146C>A (p.Pro1716Thr) c.1316-4C>A n.547C>A n.618C>A c.5218C>A (p.Pro1740Thr) c.4270C>A (p.Pro1424Thr) c.5446C>A (p.Pro1816Thr) c.5335C>A (p.Pro1779Thr) c.5257C>A (p.Pro1753Thr) c.4909C>A (p.Pro1637Thr) c.4534C>A (p.Pro1512Thr) c.5341C>A (p.Pro1781Thr) c.5443C>A (p.Pro1815Thr) c.5386C>A (p.Pro1796Thr) c.5362C>A (p.Pro1788Thr) c.5317C>A (p.Pro1773Thr) | |
3 | g.53801208C>G | CA353250470 | CACNA1D | c.5251C>G (p.Pro1751Ala) n.2194-4C>G n.626C>G c.5191C>G (p.Pro1731Ala) c.5146C>G (p.Pro1716Ala) c.1316-4C>G n.547C>G n.618C>G c.5218C>G (p.Pro1740Ala) c.4270C>G (p.Pro1424Ala) c.5446C>G (p.Pro1816Ala) c.5335C>G (p.Pro1779Ala) c.5257C>G (p.Pro1753Ala) c.4909C>G (p.Pro1637Ala) c.4534C>G (p.Pro1512Ala) c.5341C>G (p.Pro1781Ala) c.5443C>G (p.Pro1815Ala) c.5386C>G (p.Pro1796Ala) c.5362C>G (p.Pro1788Ala) c.5317C>G (p.Pro1773Ala) | |
3 | g.53801208C>T | CA353250475 | CACNA1D | c.5251C>T (p.Pro1751Ser) n.2194-4C>T n.626C>T c.5191C>T (p.Pro1731Ser) c.5146C>T (p.Pro1716Ser) c.1316-4C>T n.547C>T n.618C>T c.5218C>T (p.Pro1740Ser) c.4270C>T (p.Pro1424Ser) c.5446C>T (p.Pro1816Ser) c.5335C>T (p.Pro1779Ser) c.5257C>T (p.Pro1753Ser) c.4909C>T (p.Pro1637Ser) c.4534C>T (p.Pro1512Ser) c.5341C>T (p.Pro1781Ser) c.5443C>T (p.Pro1815Ser) c.5386C>T (p.Pro1796Ser) c.5362C>T (p.Pro1788Ser) c.5317C>T (p.Pro1773Ser) | COSMIC COSMIC |
3 | g.53801209C>A | CA353250479 | CACNA1D | c.5252C>A (p.Pro1751Gln) n.2194-3C>A n.627C>A c.5192C>A (p.Pro1731Gln) c.5147C>A (p.Pro1716Gln) c.1316-3C>A n.548C>A n.619C>A c.5219C>A (p.Pro1740Gln) c.4271C>A (p.Pro1424Gln) c.5447C>A (p.Pro1816Gln) c.5336C>A (p.Pro1779Gln) c.5258C>A (p.Pro1753Gln) c.4910C>A (p.Pro1637Gln) c.4535C>A (p.Pro1512Gln) c.5342C>A (p.Pro1781Gln) c.5444C>A (p.Pro1815Gln) c.5387C>A (p.Pro1796Gln) c.5363C>A (p.Pro1788Gln) c.5318C>A (p.Pro1773Gln) | |
3 | g.53801209C>G | CA353250484 | CACNA1D | c.5252C>G (p.Pro1751Arg) n.2194-3C>G n.627C>G c.5192C>G (p.Pro1731Arg) c.5147C>G (p.Pro1716Arg) c.1316-3C>G n.548C>G n.619C>G c.5219C>G (p.Pro1740Arg) c.4271C>G (p.Pro1424Arg) c.5447C>G (p.Pro1816Arg) c.5336C>G (p.Pro1779Arg) c.5258C>G (p.Pro1753Arg) c.4910C>G (p.Pro1637Arg) c.4535C>G (p.Pro1512Arg) c.5342C>G (p.Pro1781Arg) c.5444C>G (p.Pro1815Arg) c.5387C>G (p.Pro1796Arg) c.5363C>G (p.Pro1788Arg) c.5318C>G (p.Pro1773Arg) | |
3 | g.53801209C>T | CA353250485 | CACNA1D | c.5252C>T (p.Pro1751Leu) n.2194-3C>T n.627C>T c.5192C>T (p.Pro1731Leu) c.5147C>T (p.Pro1716Leu) c.1316-3C>T n.548C>T n.619C>T c.5219C>T (p.Pro1740Leu) c.4271C>T (p.Pro1424Leu) c.5447C>T (p.Pro1816Leu) c.5336C>T (p.Pro1779Leu) c.5258C>T (p.Pro1753Leu) c.4910C>T (p.Pro1637Leu) c.4535C>T (p.Pro1512Leu) c.5342C>T (p.Pro1781Leu) c.5444C>T (p.Pro1815Leu) c.5387C>T (p.Pro1796Leu) c.5363C>T (p.Pro1788Leu) c.5318C>T (p.Pro1773Leu) | gnomAD v4 COSMIC COSMIC |
3 | g.53801210A>C | CA433896040 | CACNA1D | c.5253A>C (p.Pro1751=) n.2194-2A>C n.628A>C c.5193A>C (p.Pro1731=) c.5148A>C (p.Pro1716=) c.1316-2A>C n.549A>C n.620A>C c.5220A>C (p.Pro1740=) c.4272A>C (p.Pro1424=) c.5448A>C (p.Pro1816=) c.5337A>C (p.Pro1779=) c.5259A>C (p.Pro1753=) c.4911A>C (p.Pro1637=) c.4536A>C (p.Pro1512=) c.5343A>C (p.Pro1781=) c.5445A>C (p.Pro1815=) c.5388A>C (p.Pro1796=) c.5364A>C (p.Pro1788=) c.5319A>C (p.Pro1773=) | |
3 | g.53801210A>G | CA433896041 | CACNA1D | c.5253A>G (p.Pro1751=) n.2194-2A>G n.628A>G c.5193A>G (p.Pro1731=) c.5148A>G (p.Pro1716=) c.1316-2A>G n.549A>G n.620A>G c.5220A>G (p.Pro1740=) c.4272A>G (p.Pro1424=) c.5448A>G (p.Pro1816=) c.5337A>G (p.Pro1779=) c.5259A>G (p.Pro1753=) c.4911A>G (p.Pro1637=) c.4536A>G (p.Pro1512=) c.5343A>G (p.Pro1781=) c.5445A>G (p.Pro1815=) c.5388A>G (p.Pro1796=) c.5364A>G (p.Pro1788=) c.5319A>G (p.Pro1773=) | |
3 | g.53801210A>T | CA433896042 | CACNA1D | c.5253A>T (p.Pro1751=) n.2194-2A>T n.628A>T c.5193A>T (p.Pro1731=) c.5148A>T (p.Pro1716=) c.1316-2A>T n.549A>T n.620A>T c.5220A>T (p.Pro1740=) c.4272A>T (p.Pro1424=) c.5448A>T (p.Pro1816=) c.5337A>T (p.Pro1779=) c.5259A>T (p.Pro1753=) c.4911A>T (p.Pro1637=) c.4536A>T (p.Pro1512=) c.5343A>T (p.Pro1781=) c.5445A>T (p.Pro1815=) c.5388A>T (p.Pro1796=) c.5364A>T (p.Pro1788=) c.5319A>T (p.Pro1773=) | |
3 | g.53801211G>A | CA353250487 | CACNA1D | c.5254G>A (p.Ala1752Thr) n.2194-1G>A n.629G>A c.5194G>A (p.Ala1732Thr) c.5149G>A (p.Ala1717Thr) c.1316-1G>A n.550G>A n.621G>A c.5221G>A (p.Ala1741Thr) c.4273G>A (p.Ala1425Thr) c.5449G>A (p.Ala1817Thr) c.5338G>A (p.Ala1780Thr) c.5260G>A (p.Ala1754Thr) c.4912G>A (p.Ala1638Thr) c.4537G>A (p.Ala1513Thr) c.5344G>A (p.Ala1782Thr) c.5446G>A (p.Ala1816Thr) c.5389G>A (p.Ala1797Thr) c.5365G>A (p.Ala1789Thr) c.5320G>A (p.Ala1774Thr) | COSMIC COSMIC |
3 | g.53801211G>C | CA353250489 | CACNA1D | c.5254G>C (p.Ala1752Pro) n.2194-1G>C n.629G>C c.5194G>C (p.Ala1732Pro) c.5149G>C (p.Ala1717Pro) c.1316-1G>C n.550G>C n.621G>C c.5221G>C (p.Ala1741Pro) c.4273G>C (p.Ala1425Pro) c.5449G>C (p.Ala1817Pro) c.5338G>C (p.Ala1780Pro) c.5260G>C (p.Ala1754Pro) c.4912G>C (p.Ala1638Pro) c.4537G>C (p.Ala1513Pro) c.5344G>C (p.Ala1782Pro) c.5446G>C (p.Ala1816Pro) c.5389G>C (p.Ala1797Pro) c.5365G>C (p.Ala1789Pro) c.5320G>C (p.Ala1774Pro) | |
3 | g.53801211G>T | CA353250488 | CACNA1D | c.5254G>T (p.Ala1752Ser) n.2194-1G>T n.629G>T c.5194G>T (p.Ala1732Ser) c.5149G>T (p.Ala1717Ser) c.1316-1G>T n.550G>T n.621G>T c.5221G>T (p.Ala1741Ser) c.4273G>T (p.Ala1425Ser) c.5449G>T (p.Ala1817Ser) c.5338G>T (p.Ala1780Ser) c.5260G>T (p.Ala1754Ser) c.4912G>T (p.Ala1638Ser) c.4537G>T (p.Ala1513Ser) c.5344G>T (p.Ala1782Ser) c.5446G>T (p.Ala1816Ser) c.5389G>T (p.Ala1797Ser) c.5365G>T (p.Ala1789Ser) c.5320G>T (p.Ala1774Ser) | ClinVar dbSNP |
3 | g.53801212C>A | CA353250490 | CACNA1D | c.5255C>A (p.Ala1752Glu) n.2194C>A n.630C>A c.5195C>A (p.Ala1732Glu) c.5150C>A (p.Ala1717Glu) c.1316C>A n.551C>A n.622C>A c.5222C>A (p.Ala1741Glu) c.4274C>A (p.Ala1425Glu) c.5450C>A (p.Ala1817Glu) c.5339C>A (p.Ala1780Glu) c.5261C>A (p.Ala1754Glu) c.4913C>A (p.Ala1638Glu) c.4538C>A (p.Ala1513Glu) c.5345C>A (p.Ala1782Glu) c.5447C>A (p.Ala1816Glu) c.5390C>A (p.Ala1797Glu) c.5366C>A (p.Ala1789Glu) c.5321C>A (p.Ala1774Glu) | |
3 | g.53801212C>G | CA353250491 | CACNA1D | c.5255C>G (p.Ala1752Gly) n.2194C>G n.630C>G c.5195C>G (p.Ala1732Gly) c.5150C>G (p.Ala1717Gly) c.1316C>G n.551C>G n.622C>G c.5222C>G (p.Ala1741Gly) c.4274C>G (p.Ala1425Gly) c.5450C>G (p.Ala1817Gly) c.5339C>G (p.Ala1780Gly) c.5261C>G (p.Ala1754Gly) c.4913C>G (p.Ala1638Gly) c.4538C>G (p.Ala1513Gly) c.5345C>G (p.Ala1782Gly) c.5447C>G (p.Ala1816Gly) c.5390C>G (p.Ala1797Gly) c.5366C>G (p.Ala1789Gly) c.5321C>G (p.Ala1774Gly) | |
3 | g.53801212C>T | CA353250493 | CACNA1D | c.5255C>T (p.Ala1752Val) n.2194C>T n.630C>T c.5195C>T (p.Ala1732Val) c.5150C>T (p.Ala1717Val) c.1316C>T n.551C>T n.622C>T c.5222C>T (p.Ala1741Val) c.4274C>T (p.Ala1425Val) c.5450C>T (p.Ala1817Val) c.5339C>T (p.Ala1780Val) c.5261C>T (p.Ala1754Val) c.4913C>T (p.Ala1638Val) c.4538C>T (p.Ala1513Val) c.5345C>T (p.Ala1782Val) c.5447C>T (p.Ala1816Val) c.5390C>T (p.Ala1797Val) c.5366C>T (p.Ala1789Val) c.5321C>T (p.Ala1774Val) | COSMIC COSMIC |
3 | g.53801213A>C | CA433896049 | CACNA1D | c.5256A>C (p.Ala1752=) n.2195A>C n.631A>C c.5196A>C (p.Ala1732=) c.5151A>C (p.Ala1717=) c.1317A>C n.552A>C n.623A>C c.5223A>C (p.Ala1741=) c.4275A>C (p.Ala1425=) c.5451A>C (p.Ala1817=) c.5340A>C (p.Ala1780=) c.5262A>C (p.Ala1754=) c.4914A>C (p.Ala1638=) c.4539A>C (p.Ala1513=) c.5346A>C (p.Ala1782=) c.5448A>C (p.Ala1816=) c.5391A>C (p.Ala1797=) c.5367A>C (p.Ala1789=) c.5322A>C (p.Ala1774=) | |
3 | g.53801213A>G | CA433896051 | CACNA1D | c.5256A>G (p.Ala1752=) n.2195A>G n.631A>G c.5196A>G (p.Ala1732=) c.5151A>G (p.Ala1717=) c.1317A>G n.552A>G n.623A>G c.5223A>G (p.Ala1741=) c.4275A>G (p.Ala1425=) c.5451A>G (p.Ala1817=) c.5340A>G (p.Ala1780=) c.5262A>G (p.Ala1754=) c.4914A>G (p.Ala1638=) c.4539A>G (p.Ala1513=) c.5346A>G (p.Ala1782=) c.5448A>G (p.Ala1816=) c.5391A>G (p.Ala1797=) c.5367A>G (p.Ala1789=) c.5322A>G (p.Ala1774=) | |
3 | g.53801213A>T | CA433896053 | CACNA1D | c.5256A>T (p.Ala1752=) n.2195A>T n.631A>T c.5196A>T (p.Ala1732=) c.5151A>T (p.Ala1717=) c.1317A>T n.552A>T n.623A>T c.5223A>T (p.Ala1741=) c.4275A>T (p.Ala1425=) c.5451A>T (p.Ala1817=) c.5340A>T (p.Ala1780=) c.5262A>T (p.Ala1754=) c.4914A>T (p.Ala1638=) c.4539A>T (p.Ala1513=) c.5346A>T (p.Ala1782=) c.5448A>T (p.Ala1816=) c.5391A>T (p.Ala1797=) c.5367A>T (p.Ala1789=) c.5322A>T (p.Ala1774=) | |
3 | g.53801214G>A | CA353250498 | CACNA1D | c.5257G>A (p.Gly1753Arg) n.2196G>A n.632G>A c.5197G>A (p.Gly1733Arg) c.5152G>A (p.Gly1718Arg) c.1318G>A n.553G>A n.624G>A c.5224G>A (p.Gly1742Arg) c.4276G>A (p.Gly1426Arg) c.5452G>A (p.Gly1818Arg) c.5341G>A (p.Gly1781Arg) c.5263G>A (p.Gly1755Arg) c.4915G>A (p.Gly1639Arg) c.4540G>A (p.Gly1514Arg) c.5347G>A (p.Gly1783Arg) c.5449G>A (p.Gly1817Arg) c.5392G>A (p.Gly1798Arg) c.5368G>A (p.Gly1790Arg) c.5323G>A (p.Gly1775Arg) | |
3 | g.53801214G>C | CA353250505 | CACNA1D | c.5257G>C (p.Gly1753Arg) n.2196G>C n.632G>C c.5197G>C (p.Gly1733Arg) c.5152G>C (p.Gly1718Arg) c.1318G>C n.553G>C n.624G>C c.5224G>C (p.Gly1742Arg) c.4276G>C (p.Gly1426Arg) c.5452G>C (p.Gly1818Arg) c.5341G>C (p.Gly1781Arg) c.5263G>C (p.Gly1755Arg) c.4915G>C (p.Gly1639Arg) c.4540G>C (p.Gly1514Arg) c.5347G>C (p.Gly1783Arg) c.5449G>C (p.Gly1817Arg) c.5392G>C (p.Gly1798Arg) c.5368G>C (p.Gly1790Arg) c.5323G>C (p.Gly1775Arg) | |
3 | g.53801214G>T | CA353250509 | CACNA1D | c.5257G>T (p.Gly1753Ter) n.2196G>T n.632G>T c.5197G>T (p.Gly1733Ter) c.5152G>T (p.Gly1718Ter) c.1318G>T n.553G>T n.624G>T c.5224G>T (p.Gly1742Ter) c.4276G>T (p.Gly1426Ter) c.5452G>T (p.Gly1818Ter) c.5341G>T (p.Gly1781Ter) c.5263G>T (p.Gly1755Ter) c.4915G>T (p.Gly1639Ter) c.4540G>T (p.Gly1514Ter) c.5347G>T (p.Gly1783Ter) c.5449G>T (p.Gly1817Ter) c.5392G>T (p.Gly1798Ter) c.5368G>T (p.Gly1790Ter) c.5323G>T (p.Gly1775Ter) | |
3 | g.53801215G>A | CA353250512 | CACNA1D | c.5258G>A (p.Gly1753Glu) n.2197G>A n.633G>A c.5198G>A (p.Gly1733Glu) c.5153G>A (p.Gly1718Glu) c.1319G>A n.554G>A n.625G>A c.5225G>A (p.Gly1742Glu) c.4277G>A (p.Gly1426Glu) c.5453G>A (p.Gly1818Glu) c.5342G>A (p.Gly1781Glu) c.5264G>A (p.Gly1755Glu) c.4916G>A (p.Gly1639Glu) c.4541G>A (p.Gly1514Glu) c.5348G>A (p.Gly1783Glu) c.5450G>A (p.Gly1817Glu) c.5393G>A (p.Gly1798Glu) c.5369G>A (p.Gly1790Glu) c.5324G>A (p.Gly1775Glu) | gnomAD v4 COSMIC COSMIC |
3 | g.53801215G>C | CA353250516 | CACNA1D | c.5258G>C (p.Gly1753Ala) n.2197G>C n.633G>C c.5198G>C (p.Gly1733Ala) c.5153G>C (p.Gly1718Ala) c.1319G>C n.554G>C n.625G>C c.5225G>C (p.Gly1742Ala) c.4277G>C (p.Gly1426Ala) c.5453G>C (p.Gly1818Ala) c.5342G>C (p.Gly1781Ala) c.5264G>C (p.Gly1755Ala) c.4916G>C (p.Gly1639Ala) c.4541G>C (p.Gly1514Ala) c.5348G>C (p.Gly1783Ala) c.5450G>C (p.Gly1817Ala) c.5393G>C (p.Gly1798Ala) c.5369G>C (p.Gly1790Ala) c.5324G>C (p.Gly1775Ala) | |
3 | g.53801215G>T | CA353250518 | CACNA1D | c.5258G>T (p.Gly1753Val) n.2197G>T n.633G>T c.5198G>T (p.Gly1733Val) c.5153G>T (p.Gly1718Val) c.1319G>T n.554G>T n.625G>T c.5225G>T (p.Gly1742Val) c.4277G>T (p.Gly1426Val) c.5453G>T (p.Gly1818Val) c.5342G>T (p.Gly1781Val) c.5264G>T (p.Gly1755Val) c.4916G>T (p.Gly1639Val) c.4541G>T (p.Gly1514Val) c.5348G>T (p.Gly1783Val) c.5450G>T (p.Gly1817Val) c.5393G>T (p.Gly1798Val) c.5369G>T (p.Gly1790Val) c.5324G>T (p.Gly1775Val) | |
3 | g.53801216A>C | CA433896059 | CACNA1D | c.5259A>C (p.Gly1753=) n.2198A>C n.634A>C c.5199A>C (p.Gly1733=) c.5154A>C (p.Gly1718=) c.1320A>C n.555A>C n.626A>C c.5226A>C (p.Gly1742=) c.4278A>C (p.Gly1426=) c.5454A>C (p.Gly1818=) c.5343A>C (p.Gly1781=) c.5265A>C (p.Gly1755=) c.4917A>C (p.Gly1639=) c.4542A>C (p.Gly1514=) c.5349A>C (p.Gly1783=) c.5451A>C (p.Gly1817=) c.5394A>C (p.Gly1798=) c.5370A>C (p.Gly1790=) c.5325A>C (p.Gly1775=) | |
3 | g.53801216A>G | CA433896055 | CACNA1D | c.5259A>G (p.Gly1753=) n.2198A>G n.634A>G c.5199A>G (p.Gly1733=) c.5154A>G (p.Gly1718=) c.1320A>G n.555A>G n.626A>G c.5226A>G (p.Gly1742=) c.4278A>G (p.Gly1426=) c.5454A>G (p.Gly1818=) c.5343A>G (p.Gly1781=) c.5265A>G (p.Gly1755=) c.4917A>G (p.Gly1639=) c.4542A>G (p.Gly1514=) c.5349A>G (p.Gly1783=) c.5451A>G (p.Gly1817=) c.5394A>G (p.Gly1798=) c.5370A>G (p.Gly1790=) c.5325A>G (p.Gly1775=) | |
3 | g.53801216A>T | CA433896057 | CACNA1D | c.5259A>T (p.Gly1753=) n.2198A>T n.634A>T c.5199A>T (p.Gly1733=) c.5154A>T (p.Gly1718=) c.1320A>T n.555A>T n.626A>T c.5226A>T (p.Gly1742=) c.4278A>T (p.Gly1426=) c.5454A>T (p.Gly1818=) c.5343A>T (p.Gly1781=) c.5265A>T (p.Gly1755=) c.4917A>T (p.Gly1639=) c.4542A>T (p.Gly1514=) c.5349A>T (p.Gly1783=) c.5451A>T (p.Gly1817=) c.5394A>T (p.Gly1798=) c.5370A>T (p.Gly1790=) c.5325A>T (p.Gly1775=) | |
3 | g.53801217A>C | CA353250523 | CACNA1D | c.5260A>C (p.Asn1754His) n.2199A>C n.635A>C c.5200A>C (p.Asn1734His) c.5155A>C (p.Asn1719His) c.1321A>C n.556A>C n.627A>C c.5227A>C (p.Asn1743His) c.4279A>C (p.Asn1427His) c.5455A>C (p.Asn1819His) c.5344A>C (p.Asn1782His) c.5266A>C (p.Asn1756His) c.4918A>C (p.Asn1640His) c.4543A>C (p.Asn1515His) c.5350A>C (p.Asn1784His) c.5452A>C (p.Asn1818His) c.5395A>C (p.Asn1799His) c.5371A>C (p.Asn1791His) c.5326A>C (p.Asn1776His) | |
3 | g.53801217A>G | CA353250526 | CACNA1D | c.5260A>G (p.Asn1754Asp) n.2199A>G n.635A>G c.5200A>G (p.Asn1734Asp) c.5155A>G (p.Asn1719Asp) c.1321A>G n.556A>G n.627A>G c.5227A>G (p.Asn1743Asp) c.4279A>G (p.Asn1427Asp) c.5455A>G (p.Asn1819Asp) c.5344A>G (p.Asn1782Asp) c.5266A>G (p.Asn1756Asp) c.4918A>G (p.Asn1640Asp) c.4543A>G (p.Asn1515Asp) c.5350A>G (p.Asn1784Asp) c.5452A>G (p.Asn1818Asp) c.5395A>G (p.Asn1799Asp) c.5371A>G (p.Asn1791Asp) c.5326A>G (p.Asn1776Asp) | |
3 | g.53801217A>T | CA353250529 | CACNA1D | c.5260A>T (p.Asn1754Tyr) n.2199A>T n.635A>T c.5200A>T (p.Asn1734Tyr) c.5155A>T (p.Asn1719Tyr) c.1321A>T n.556A>T n.627A>T c.5227A>T (p.Asn1743Tyr) c.4279A>T (p.Asn1427Tyr) c.5455A>T (p.Asn1819Tyr) c.5344A>T (p.Asn1782Tyr) c.5266A>T (p.Asn1756Tyr) c.4918A>T (p.Asn1640Tyr) c.4543A>T (p.Asn1515Tyr) c.5350A>T (p.Asn1784Tyr) c.5452A>T (p.Asn1818Tyr) c.5395A>T (p.Asn1799Tyr) c.5371A>T (p.Asn1791Tyr) c.5326A>T (p.Asn1776Tyr) | |
3 | g.53801218A= | CA1365484166 | CACNA1D | c.5261A= (p.Asn1754=) n.2200A= n.636A= c.5201A= (p.Asn1734=) c.5156A= (p.Asn1719=) c.1322A= n.557A= n.628A= c.5228A= (p.Asn1743=) c.4280A= (p.Asn1427=) c.5456A= (p.Asn1819=) c.5345A= (p.Asn1782=) c.5267A= (p.Asn1756=) c.4919A= (p.Asn1640=) c.4544A= (p.Asn1515=) c.5351A= (p.Asn1784=) c.5453A= (p.Asn1818=) c.5396A= (p.Asn1799=) c.5372A= (p.Asn1791=) c.5327A= (p.Asn1776=) | |
3 | g.53801218A>C | CA353250539 | CACNA1D | c.5261A>C (p.Asn1754Thr) n.2200A>C n.636A>C c.5201A>C (p.Asn1734Thr) c.5156A>C (p.Asn1719Thr) c.1322A>C n.557A>C n.628A>C c.5228A>C (p.Asn1743Thr) c.4280A>C (p.Asn1427Thr) c.5456A>C (p.Asn1819Thr) c.5345A>C (p.Asn1782Thr) c.5267A>C (p.Asn1756Thr) c.4919A>C (p.Asn1640Thr) c.4544A>C (p.Asn1515Thr) c.5351A>C (p.Asn1784Thr) c.5453A>C (p.Asn1818Thr) c.5396A>C (p.Asn1799Thr) c.5372A>C (p.Asn1791Thr) c.5327A>C (p.Asn1776Thr) | |
3 | g.53801218A>G | CA353250534 | CACNA1D | c.5261A>G (p.Asn1754Ser) n.2200A>G n.636A>G c.5201A>G (p.Asn1734Ser) c.5156A>G (p.Asn1719Ser) c.1322A>G n.557A>G n.628A>G c.5228A>G (p.Asn1743Ser) c.4280A>G (p.Asn1427Ser) c.5456A>G (p.Asn1819Ser) c.5345A>G (p.Asn1782Ser) c.5267A>G (p.Asn1756Ser) c.4919A>G (p.Asn1640Ser) c.4544A>G (p.Asn1515Ser) c.5351A>G (p.Asn1784Ser) c.5453A>G (p.Asn1818Ser) c.5396A>G (p.Asn1799Ser) c.5372A>G (p.Asn1791Ser) c.5327A>G (p.Asn1776Ser) | |
3 | g.53801218A>T | CA74859870 | CACNA1D | c.5261A>T (p.Asn1754Ile) n.2200A>T n.636A>T c.5201A>T (p.Asn1734Ile) c.5156A>T (p.Asn1719Ile) c.1322A>T n.557A>T n.628A>T c.5228A>T (p.Asn1743Ile) c.4280A>T (p.Asn1427Ile) c.5456A>T (p.Asn1819Ile) c.5345A>T (p.Asn1782Ile) c.5267A>T (p.Asn1756Ile) c.4919A>T (p.Asn1640Ile) c.4544A>T (p.Asn1515Ile) c.5351A>T (p.Asn1784Ile) c.5453A>T (p.Asn1818Ile) c.5396A>T (p.Asn1799Ile) c.5372A>T (p.Asn1791Ile) c.5327A>T (p.Asn1776Ile) | dbSNP |
3 | g.53801219T>A | CA353250543 | CACNA1D | c.5262T>A (p.Asn1754Lys) n.2201T>A n.637T>A c.5202T>A (p.Asn1734Lys) c.5157T>A (p.Asn1719Lys) c.1323T>A n.558T>A n.629T>A c.5229T>A (p.Asn1743Lys) c.4281T>A (p.Asn1427Lys) c.5457T>A (p.Asn1819Lys) c.5346T>A (p.Asn1782Lys) c.5268T>A (p.Asn1756Lys) c.4920T>A (p.Asn1640Lys) c.4545T>A (p.Asn1515Lys) c.5352T>A (p.Asn1784Lys) c.5454T>A (p.Asn1818Lys) c.5397T>A (p.Asn1799Lys) c.5373T>A (p.Asn1791Lys) c.5328T>A (p.Asn1776Lys) | |
3 | g.53801219T>C | CA433896065 | CACNA1D | c.5262T>C (p.Asn1754=) n.2201T>C n.637T>C c.5202T>C (p.Asn1734=) c.5157T>C (p.Asn1719=) c.1323T>C n.558T>C n.629T>C c.5229T>C (p.Asn1743=) c.4281T>C (p.Asn1427=) c.5457T>C (p.Asn1819=) c.5346T>C (p.Asn1782=) c.5268T>C (p.Asn1756=) c.4920T>C (p.Asn1640=) c.4545T>C (p.Asn1515=) c.5352T>C (p.Asn1784=) c.5454T>C (p.Asn1818=) c.5397T>C (p.Asn1799=) c.5373T>C (p.Asn1791=) c.5328T>C (p.Asn1776=) | |
3 | g.53801219T>G | CA353250546 | CACNA1D | c.5262T>G (p.Asn1754Lys) n.2201T>G n.637T>G c.5202T>G (p.Asn1734Lys) c.5157T>G (p.Asn1719Lys) c.1323T>G n.558T>G n.629T>G c.5229T>G (p.Asn1743Lys) c.4281T>G (p.Asn1427Lys) c.5457T>G (p.Asn1819Lys) c.5346T>G (p.Asn1782Lys) c.5268T>G (p.Asn1756Lys) c.4920T>G (p.Asn1640Lys) c.4545T>G (p.Asn1515Lys) c.5352T>G (p.Asn1784Lys) c.5454T>G (p.Asn1818Lys) c.5397T>G (p.Asn1799Lys) c.5373T>G (p.Asn1791Lys) c.5328T>G (p.Asn1776Lys) | |
3 | g.53801220T>A | CA353250550 | CACNA1D | c.5263T>A (p.Ser1755Thr) n.2202T>A n.638T>A c.5203T>A (p.Ser1735Thr) c.5158T>A (p.Ser1720Thr) c.1324T>A n.559T>A n.630T>A c.5230T>A (p.Ser1744Thr) c.4282T>A (p.Ser1428Thr) c.5458T>A (p.Ser1820Thr) c.5347T>A (p.Ser1783Thr) c.5269T>A (p.Ser1757Thr) c.4921T>A (p.Ser1641Thr) c.4546T>A (p.Ser1516Thr) c.5353T>A (p.Ser1785Thr) c.5455T>A (p.Ser1819Thr) c.5398T>A (p.Ser1800Thr) c.5374T>A (p.Ser1792Thr) c.5329T>A (p.Ser1777Thr) | |
3 | g.53801220T>C | CA353250552 | CACNA1D | c.5263T>C (p.Ser1755Pro) n.2202T>C n.638T>C c.5203T>C (p.Ser1735Pro) c.5158T>C (p.Ser1720Pro) c.1324T>C n.559T>C n.630T>C c.5230T>C (p.Ser1744Pro) c.4282T>C (p.Ser1428Pro) c.5458T>C (p.Ser1820Pro) c.5347T>C (p.Ser1783Pro) c.5269T>C (p.Ser1757Pro) c.4921T>C (p.Ser1641Pro) c.4546T>C (p.Ser1516Pro) c.5353T>C (p.Ser1785Pro) c.5455T>C (p.Ser1819Pro) c.5398T>C (p.Ser1800Pro) c.5374T>C (p.Ser1792Pro) c.5329T>C (p.Ser1777Pro) | gnomAD v4 |
3 | g.53801220T>G | CA353250554 | CACNA1D | c.5263T>G (p.Ser1755Ala) n.2202T>G n.638T>G c.5203T>G (p.Ser1735Ala) c.5158T>G (p.Ser1720Ala) c.1324T>G n.559T>G n.630T>G c.5230T>G (p.Ser1744Ala) c.4282T>G (p.Ser1428Ala) c.5458T>G (p.Ser1820Ala) c.5347T>G (p.Ser1783Ala) c.5269T>G (p.Ser1757Ala) c.4921T>G (p.Ser1641Ala) c.4546T>G (p.Ser1516Ala) c.5353T>G (p.Ser1785Ala) c.5455T>G (p.Ser1819Ala) c.5398T>G (p.Ser1800Ala) c.5374T>G (p.Ser1792Ala) c.5329T>G (p.Ser1777Ala) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.53801220T= | CA1365484167 | CACNA1D | c.5263T= (p.Ser1755=) n.2202T= n.638T= c.5203T= (p.Ser1735=) c.5158T= (p.Ser1720=) c.1324T= n.559T= n.630T= c.5230T= (p.Ser1744=) c.4282T= (p.Ser1428=) c.5458T= (p.Ser1820=) c.5347T= (p.Ser1783=) c.5269T= (p.Ser1757=) c.4921T= (p.Ser1641=) c.4546T= (p.Ser1516=) c.5353T= (p.Ser1785=) c.5455T= (p.Ser1819=) c.5398T= (p.Ser1800=) c.5374T= (p.Ser1792=) c.5329T= (p.Ser1777=) | |
3 | g.53801221C>A | CA353250556 | CACNA1D | c.5264C>A (p.Ser1755Ter) n.2203C>A n.639C>A c.5204C>A (p.Ser1735Ter) c.5159C>A (p.Ser1720Ter) c.1325C>A n.560C>A n.631C>A c.5231C>A (p.Ser1744Ter) c.4283C>A (p.Ser1428Ter) c.5459C>A (p.Ser1820Ter) c.5348C>A (p.Ser1783Ter) c.5270C>A (p.Ser1757Ter) c.4922C>A (p.Ser1641Ter) c.4547C>A (p.Ser1516Ter) c.5354C>A (p.Ser1785Ter) c.5456C>A (p.Ser1819Ter) c.5399C>A (p.Ser1800Ter) c.5375C>A (p.Ser1792Ter) c.5330C>A (p.Ser1777Ter) | |
3 | g.53801221C= | CA1365484168 | CACNA1D | c.5264C= (p.Ser1755=) n.2203C= n.639C= c.5204C= (p.Ser1735=) c.5159C= (p.Ser1720=) c.1325C= n.560C= n.631C= c.5231C= (p.Ser1744=) c.4283C= (p.Ser1428=) c.5459C= (p.Ser1820=) c.5348C= (p.Ser1783=) c.5270C= (p.Ser1757=) c.4922C= (p.Ser1641=) c.4547C= (p.Ser1516=) c.5354C= (p.Ser1785=) c.5456C= (p.Ser1819=) c.5399C= (p.Ser1800=) c.5375C= (p.Ser1792=) c.5330C= (p.Ser1777=) | |
3 | g.53801221C>G | CA353250557 | CACNA1D | c.5264C>G (p.Ser1755Trp) n.2203C>G n.639C>G c.5204C>G (p.Ser1735Trp) c.5159C>G (p.Ser1720Trp) c.1325C>G n.560C>G n.631C>G c.5231C>G (p.Ser1744Trp) c.4283C>G (p.Ser1428Trp) c.5459C>G (p.Ser1820Trp) c.5348C>G (p.Ser1783Trp) c.5270C>G (p.Ser1757Trp) c.4922C>G (p.Ser1641Trp) c.4547C>G (p.Ser1516Trp) c.5354C>G (p.Ser1785Trp) c.5456C>G (p.Ser1819Trp) c.5399C>G (p.Ser1800Trp) c.5375C>G (p.Ser1792Trp) c.5330C>G (p.Ser1777Trp) | |
3 | g.53801221C>T | CA353250561 | CACNA1D | c.5264C>T (p.Ser1755Leu) n.2203C>T n.639C>T c.5204C>T (p.Ser1735Leu) c.5159C>T (p.Ser1720Leu) c.1325C>T n.560C>T n.631C>T c.5231C>T (p.Ser1744Leu) c.4283C>T (p.Ser1428Leu) c.5459C>T (p.Ser1820Leu) c.5348C>T (p.Ser1783Leu) c.5270C>T (p.Ser1757Leu) c.4922C>T (p.Ser1641Leu) c.4547C>T (p.Ser1516Leu) c.5354C>T (p.Ser1785Leu) c.5456C>T (p.Ser1819Leu) c.5399C>T (p.Ser1800Leu) c.5375C>T (p.Ser1792Leu) c.5330C>T (p.Ser1777Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
3 | g.53801222G>A | CA433896073 | CACNA1D | c.5265G>A (p.Ser1755=) n.2204G>A n.640G>A c.5205G>A (p.Ser1735=) c.5160G>A (p.Ser1720=) c.1326G>A n.561G>A n.632G>A c.5232G>A (p.Ser1744=) c.4284G>A (p.Ser1428=) c.5460G>A (p.Ser1820=) c.5349G>A (p.Ser1783=) c.5271G>A (p.Ser1757=) c.4923G>A (p.Ser1641=) c.4548G>A (p.Ser1516=) c.5355G>A (p.Ser1785=) c.5457G>A (p.Ser1819=) c.5400G>A (p.Ser1800=) c.5376G>A (p.Ser1792=) c.5331G>A (p.Ser1777=) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.53801222G>C | CA433896071 | CACNA1D | c.5265G>C (p.Ser1755=) n.2204G>C n.640G>C c.5205G>C (p.Ser1735=) c.5160G>C (p.Ser1720=) c.1326G>C n.561G>C n.632G>C c.5232G>C (p.Ser1744=) c.4284G>C (p.Ser1428=) c.5460G>C (p.Ser1820=) c.5349G>C (p.Ser1783=) c.5271G>C (p.Ser1757=) c.4923G>C (p.Ser1641=) c.4548G>C (p.Ser1516=) c.5355G>C (p.Ser1785=) c.5457G>C (p.Ser1819=) c.5400G>C (p.Ser1800=) c.5376G>C (p.Ser1792=) c.5331G>C (p.Ser1777=) | gnomAD v4 |
3 | g.53801222G= | CA1365484169 | CACNA1D | c.5265G= (p.Ser1755=) n.2204G= n.640G= c.5205G= (p.Ser1735=) c.5160G= (p.Ser1720=) c.1326G= n.561G= n.632G= c.5232G= (p.Ser1744=) c.4284G= (p.Ser1428=) c.5460G= (p.Ser1820=) c.5349G= (p.Ser1783=) c.5271G= (p.Ser1757=) c.4923G= (p.Ser1641=) c.4548G= (p.Ser1516=) c.5355G= (p.Ser1785=) c.5457G= (p.Ser1819=) c.5400G= (p.Ser1800=) c.5376G= (p.Ser1792=) c.5331G= (p.Ser1777=) | |
3 | g.53801222G>T | CA433896075 | CACNA1D | c.5265G>T (p.Ser1755=) n.2204G>T n.640G>T c.5205G>T (p.Ser1735=) c.5160G>T (p.Ser1720=) c.1326G>T n.561G>T n.632G>T c.5232G>T (p.Ser1744=) c.4284G>T (p.Ser1428=) c.5460G>T (p.Ser1820=) c.5349G>T (p.Ser1783=) c.5271G>T (p.Ser1757=) c.4923G>T (p.Ser1641=) c.4548G>T (p.Ser1516=) c.5355G>T (p.Ser1785=) c.5457G>T (p.Ser1819=) c.5400G>T (p.Ser1800=) c.5376G>T (p.Ser1792=) c.5331G>T (p.Ser1777=) | |
3 | g.53801223G>A | CA353250564 | CACNA1D | c.5266G>A (p.Val1756Met) n.2205G>A n.641G>A c.5206G>A (p.Val1736Met) c.5161G>A (p.Val1721Met) c.1327G>A n.562G>A n.633G>A c.5233G>A (p.Val1745Met) c.4285G>A (p.Val1429Met) c.5461G>A (p.Val1821Met) c.5350G>A (p.Val1784Met) c.5272G>A (p.Val1758Met) c.4924G>A (p.Val1642Met) c.4549G>A (p.Val1517Met) c.5356G>A (p.Val1786Met) c.5458G>A (p.Val1820Met) c.5401G>A (p.Val1801Met) c.5377G>A (p.Val1793Met) c.5332G>A (p.Val1778Met) | |
3 | g.53801223G>C | CA353250568 | CACNA1D | c.5266G>C (p.Val1756Leu) n.2205G>C n.641G>C c.5206G>C (p.Val1736Leu) c.5161G>C (p.Val1721Leu) c.1327G>C n.562G>C n.633G>C c.5233G>C (p.Val1745Leu) c.4285G>C (p.Val1429Leu) c.5461G>C (p.Val1821Leu) c.5350G>C (p.Val1784Leu) c.5272G>C (p.Val1758Leu) c.4924G>C (p.Val1642Leu) c.4549G>C (p.Val1517Leu) c.5356G>C (p.Val1786Leu) c.5458G>C (p.Val1820Leu) c.5401G>C (p.Val1801Leu) c.5377G>C (p.Val1793Leu) c.5332G>C (p.Val1778Leu) | |
3 | g.53801223G>T | CA353250571 | CACNA1D | c.5266G>T (p.Val1756Leu) n.2205G>T n.641G>T c.5206G>T (p.Val1736Leu) c.5161G>T (p.Val1721Leu) c.1327G>T n.562G>T n.633G>T c.5233G>T (p.Val1745Leu) c.4285G>T (p.Val1429Leu) c.5461G>T (p.Val1821Leu) c.5350G>T (p.Val1784Leu) c.5272G>T (p.Val1758Leu) c.4924G>T (p.Val1642Leu) c.4549G>T (p.Val1517Leu) c.5356G>T (p.Val1786Leu) c.5458G>T (p.Val1820Leu) c.5401G>T (p.Val1801Leu) c.5377G>T (p.Val1793Leu) c.5332G>T (p.Val1778Leu) | |
3 | g.53801224T>A | CA353250577 | CACNA1D | c.5267T>A (p.Val1756Glu) n.2206T>A n.642T>A c.5207T>A (p.Val1736Glu) c.5162T>A (p.Val1721Glu) c.1328T>A n.563T>A n.634T>A c.5234T>A (p.Val1745Glu) c.4286T>A (p.Val1429Glu) c.5462T>A (p.Val1821Glu) c.5351T>A (p.Val1784Glu) c.5273T>A (p.Val1758Glu) c.4925T>A (p.Val1642Glu) c.4550T>A (p.Val1517Glu) c.5357T>A (p.Val1786Glu) c.5459T>A (p.Val1820Glu) c.5402T>A (p.Val1801Glu) c.5378T>A (p.Val1793Glu) c.5333T>A (p.Val1778Glu) | |
3 | g.53801224T>C | CA353250582 | CACNA1D | c.5267T>C (p.Val1756Ala) n.2206T>C n.642T>C c.5207T>C (p.Val1736Ala) c.5162T>C (p.Val1721Ala) c.1328T>C n.563T>C n.634T>C c.5234T>C (p.Val1745Ala) c.4286T>C (p.Val1429Ala) c.5462T>C (p.Val1821Ala) c.5351T>C (p.Val1784Ala) c.5273T>C (p.Val1758Ala) c.4925T>C (p.Val1642Ala) c.4550T>C (p.Val1517Ala) c.5357T>C (p.Val1786Ala) c.5459T>C (p.Val1820Ala) c.5402T>C (p.Val1801Ala) c.5378T>C (p.Val1793Ala) c.5333T>C (p.Val1778Ala) | |
3 | g.53801224T>G | CA353250574 | CACNA1D | c.5267T>G (p.Val1756Gly) n.2206T>G n.642T>G c.5207T>G (p.Val1736Gly) c.5162T>G (p.Val1721Gly) c.1328T>G n.563T>G n.634T>G c.5234T>G (p.Val1745Gly) c.4286T>G (p.Val1429Gly) c.5462T>G (p.Val1821Gly) c.5351T>G (p.Val1784Gly) c.5273T>G (p.Val1758Gly) c.4925T>G (p.Val1642Gly) c.4550T>G (p.Val1517Gly) c.5357T>G (p.Val1786Gly) c.5459T>G (p.Val1820Gly) c.5402T>G (p.Val1801Gly) c.5378T>G (p.Val1793Gly) c.5333T>G (p.Val1778Gly) | COSMIC COSMIC |
3 | g.53801225G>A | CA433896081 | CACNA1D | c.5268G>A (p.Val1756=) n.2207G>A n.643G>A c.5208G>A (p.Val1736=) c.5163G>A (p.Val1721=) c.1329G>A n.564G>A n.635G>A c.5235G>A (p.Val1745=) c.4287G>A (p.Val1429=) c.5463G>A (p.Val1821=) c.5352G>A (p.Val1784=) c.5274G>A (p.Val1758=) c.4926G>A (p.Val1642=) c.4551G>A (p.Val1517=) c.5358G>A (p.Val1786=) c.5460G>A (p.Val1820=) c.5403G>A (p.Val1801=) c.5379G>A (p.Val1793=) c.5334G>A (p.Val1778=) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.53801225G>C | CA433896082 | CACNA1D | c.5268G>C (p.Val1756=) n.2207G>C n.643G>C c.5208G>C (p.Val1736=) c.5163G>C (p.Val1721=) c.1329G>C n.564G>C n.635G>C c.5235G>C (p.Val1745=) c.4287G>C (p.Val1429=) c.5463G>C (p.Val1821=) c.5352G>C (p.Val1784=) c.5274G>C (p.Val1758=) c.4926G>C (p.Val1642=) c.4551G>C (p.Val1517=) c.5358G>C (p.Val1786=) c.5460G>C (p.Val1820=) c.5403G>C (p.Val1801=) c.5379G>C (p.Val1793=) c.5334G>C (p.Val1778=) | |
3 | g.53801225G= | CA1365484170 | CACNA1D | c.5268G= (p.Val1756=) n.2207G= n.643G= c.5208G= (p.Val1736=) c.5163G= (p.Val1721=) c.1329G= n.564G= n.635G= c.5235G= (p.Val1745=) c.4287G= (p.Val1429=) c.5463G= (p.Val1821=) c.5352G= (p.Val1784=) c.5274G= (p.Val1758=) c.4926G= (p.Val1642=) c.4551G= (p.Val1517=) c.5358G= (p.Val1786=) c.5460G= (p.Val1820=) c.5403G= (p.Val1801=) c.5379G= (p.Val1793=) c.5334G= (p.Val1778=) | |
3 | g.53801225G>T | CA433896083 | CACNA1D | c.5268G>T (p.Val1756=) n.2207G>T n.643G>T c.5208G>T (p.Val1736=) c.5163G>T (p.Val1721=) c.1329G>T n.564G>T n.635G>T c.5235G>T (p.Val1745=) c.4287G>T (p.Val1429=) c.5463G>T (p.Val1821=) c.5352G>T (p.Val1784=) c.5274G>T (p.Val1758=) c.4926G>T (p.Val1642=) c.4551G>T (p.Val1517=) c.5358G>T (p.Val1786=) c.5460G>T (p.Val1820=) c.5403G>T (p.Val1801=) c.5379G>T (p.Val1793=) c.5334G>T (p.Val1778=) | |
3 | g.53801226T>A | CA353250588 | CACNA1D | c.5269T>A (p.Cys1757Ser) n.2208T>A n.644T>A c.5209T>A (p.Cys1737Ser) c.5164T>A (p.Cys1722Ser) c.1330T>A n.565T>A n.636T>A c.5236T>A (p.Cys1746Ser) c.4288T>A (p.Cys1430Ser) c.5464T>A (p.Cys1822Ser) c.5353T>A (p.Cys1785Ser) c.5275T>A (p.Cys1759Ser) c.4927T>A (p.Cys1643Ser) c.4552T>A (p.Cys1518Ser) c.5359T>A (p.Cys1787Ser) c.5461T>A (p.Cys1821Ser) c.5404T>A (p.Cys1802Ser) c.5380T>A (p.Cys1794Ser) c.5335T>A (p.Cys1779Ser) | |
3 | g.53801226T>C | CA353250586 | CACNA1D | c.5269T>C (p.Cys1757Arg) n.2208T>C n.644T>C c.5209T>C (p.Cys1737Arg) c.5164T>C (p.Cys1722Arg) c.1330T>C n.565T>C n.636T>C c.5236T>C (p.Cys1746Arg) c.4288T>C (p.Cys1430Arg) c.5464T>C (p.Cys1822Arg) c.5353T>C (p.Cys1785Arg) c.5275T>C (p.Cys1759Arg) c.4927T>C (p.Cys1643Arg) c.4552T>C (p.Cys1518Arg) c.5359T>C (p.Cys1787Arg) c.5461T>C (p.Cys1821Arg) c.5404T>C (p.Cys1802Arg) c.5380T>C (p.Cys1794Arg) c.5335T>C (p.Cys1779Arg) | |
3 | g.53801226T>G | CA353250590 | CACNA1D | c.5269T>G (p.Cys1757Gly) n.2208T>G n.644T>G c.5209T>G (p.Cys1737Gly) c.5164T>G (p.Cys1722Gly) c.1330T>G n.565T>G n.636T>G c.5236T>G (p.Cys1746Gly) c.4288T>G (p.Cys1430Gly) c.5464T>G (p.Cys1822Gly) c.5353T>G (p.Cys1785Gly) c.5275T>G (p.Cys1759Gly) c.4927T>G (p.Cys1643Gly) c.4552T>G (p.Cys1518Gly) c.5359T>G (p.Cys1787Gly) c.5461T>G (p.Cys1821Gly) c.5404T>G (p.Cys1802Gly) c.5380T>G (p.Cys1794Gly) c.5335T>G (p.Cys1779Gly) | |
3 | g.53801227G>A | CA353250593 | CACNA1D | c.5270G>A (p.Cys1757Tyr) n.2209G>A n.645G>A c.5210G>A (p.Cys1737Tyr) c.5165G>A (p.Cys1722Tyr) c.1331G>A n.566G>A n.637G>A c.5237G>A (p.Cys1746Tyr) c.4289G>A (p.Cys1430Tyr) c.5465G>A (p.Cys1822Tyr) c.5354G>A (p.Cys1785Tyr) c.5276G>A (p.Cys1759Tyr) c.4928G>A (p.Cys1643Tyr) c.4553G>A (p.Cys1518Tyr) c.5360G>A (p.Cys1787Tyr) c.5462G>A (p.Cys1821Tyr) c.5405G>A (p.Cys1802Tyr) c.5381G>A (p.Cys1794Tyr) c.5336G>A (p.Cys1779Tyr) | gnomAD v4 |
3 | g.53801227G>C | CA353250594 | CACNA1D | c.5270G>C (p.Cys1757Ser) n.2209G>C n.645G>C c.5210G>C (p.Cys1737Ser) c.5165G>C (p.Cys1722Ser) c.1331G>C n.566G>C n.637G>C c.5237G>C (p.Cys1746Ser) c.4289G>C (p.Cys1430Ser) c.5465G>C (p.Cys1822Ser) c.5354G>C (p.Cys1785Ser) c.5276G>C (p.Cys1759Ser) c.4928G>C (p.Cys1643Ser) c.4553G>C (p.Cys1518Ser) c.5360G>C (p.Cys1787Ser) c.5462G>C (p.Cys1821Ser) c.5405G>C (p.Cys1802Ser) c.5381G>C (p.Cys1794Ser) c.5336G>C (p.Cys1779Ser) | |
3 | g.53801227G>T | CA353250595 | CACNA1D | c.5270G>T (p.Cys1757Phe) n.2209G>T n.645G>T c.5210G>T (p.Cys1737Phe) c.5165G>T (p.Cys1722Phe) c.1331G>T n.566G>T n.637G>T c.5237G>T (p.Cys1746Phe) c.4289G>T (p.Cys1430Phe) c.5465G>T (p.Cys1822Phe) c.5354G>T (p.Cys1785Phe) c.5276G>T (p.Cys1759Phe) c.4928G>T (p.Cys1643Phe) c.4553G>T (p.Cys1518Phe) c.5360G>T (p.Cys1787Phe) c.5462G>T (p.Cys1821Phe) c.5405G>T (p.Cys1802Phe) c.5381G>T (p.Cys1794Phe) c.5336G>T (p.Cys1779Phe) | |
3 | g.53801227_53801236delinsGTCATAACCA | CA1365484171 | CACNA1D | c.5270_5279delinsGTCATAACCA (p.Cys1757=) n.2209_2218delinsGTCATAACCA n.645_654delinsGTCATAACCA c.5210_5219delinsGTCATAACCA (p.Cys1737=) c.5165_5174delinsGTCATAACCA (p.Cys1722=) c.1331_1340delinsGTCATAACCA n.566_575delinsGTCATAACCA n.637_646delinsGTCATAACCA c.5237_5246delinsGTCATAACCA (p.Cys1746=) c.4289_4298delinsGTCATAACCA (p.Cys1430=) c.5465_5474delinsGTCATAACCA (p.Cys1822=) c.5354_5363delinsGTCATAACCA (p.Cys1785=) c.5276_5285delinsGTCATAACCA (p.Cys1759=) c.4928_4937delinsGTCATAACCA (p.Cys1643=) c.4553_4562delinsGTCATAACCA (p.Cys1518=) c.5360_5369delinsGTCATAACCA (p.Cys1787=) c.5462_5471delinsGTCATAACCA (p.Cys1821=) c.5405_5414delinsGTCATAACCA (p.Cys1802=) c.5381_5390delinsGTCATAACCA (p.Cys1794=) c.5336_5345delinsGTCATAACCA (p.Cys1779=) | |
3 | g.53801228T>A | CA353250599 | CACNA1D | c.5271T>A (p.Cys1757Ter) n.2210T>A n.646T>A c.5211T>A (p.Cys1737Ter) c.5166T>A (p.Cys1722Ter) c.1332T>A n.567T>A n.638T>A c.5238T>A (p.Cys1746Ter) c.4290T>A (p.Cys1430Ter) c.5466T>A (p.Cys1822Ter) c.5355T>A (p.Cys1785Ter) c.5277T>A (p.Cys1759Ter) c.4929T>A (p.Cys1643Ter) c.4554T>A (p.Cys1518Ter) c.5361T>A (p.Cys1787Ter) c.5463T>A (p.Cys1821Ter) c.5406T>A (p.Cys1802Ter) c.5382T>A (p.Cys1794Ter) c.5337T>A (p.Cys1779Ter) | |
3 | g.53801228T>C | CA433896087 | CACNA1D | c.5271T>C (p.Cys1757=) n.2210T>C n.646T>C c.5211T>C (p.Cys1737=) c.5166T>C (p.Cys1722=) c.1332T>C n.567T>C n.638T>C c.5238T>C (p.Cys1746=) c.4290T>C (p.Cys1430=) c.5466T>C (p.Cys1822=) c.5355T>C (p.Cys1785=) c.5277T>C (p.Cys1759=) c.4929T>C (p.Cys1643=) c.4554T>C (p.Cys1518=) c.5361T>C (p.Cys1787=) c.5463T>C (p.Cys1821=) c.5406T>C (p.Cys1802=) c.5382T>C (p.Cys1794=) c.5337T>C (p.Cys1779=) | |
3 | g.53801228T>G | CA353250601 | CACNA1D | c.5271T>G (p.Cys1757Trp) n.2210T>G n.646T>G c.5211T>G (p.Cys1737Trp) c.5166T>G (p.Cys1722Trp) c.1332T>G n.567T>G n.638T>G c.5238T>G (p.Cys1746Trp) c.4290T>G (p.Cys1430Trp) c.5466T>G (p.Cys1822Trp) c.5355T>G (p.Cys1785Trp) c.5277T>G (p.Cys1759Trp) c.4929T>G (p.Cys1643Trp) c.4554T>G (p.Cys1518Trp) c.5361T>G (p.Cys1787Trp) c.5463T>G (p.Cys1821Trp) c.5406T>G (p.Cys1802Trp) c.5382T>G (p.Cys1794Trp) c.5337T>G (p.Cys1779Trp) | |
3 | g.53801238_53801246del | CA1048074805 | CACNA1D | c.5281_5289del (p.His1761_His1763del) n.2220_2228del n.656_664del c.5221_5229del (p.His1741_His1743del) c.5176_5184del (p.His1726_His1728del) c.1342_1350del n.577_585del n.648_656del c.5248_5256del (p.His1750_His1752del) c.4300_4308del (p.His1434_His1436del) c.5476_5484del (p.His1826_His1828del) c.5365_5373del (p.His1789_His1791del) c.5287_5295del (p.His1763_His1765del) c.4939_4947del (p.His1647_His1649del) c.4564_4572del (p.His1522_His1524del) c.5371_5379del (p.His1791_His1793del) c.5473_5481del (p.His1825_His1827del) c.5416_5424del (p.His1806_His1808del) c.5392_5400del (p.His1798_His1800del) c.5347_5355del (p.His1783_His1785del) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.53801229C>A | CA353250604 | CACNA1D | c.5272C>A (p.His1758Asn) n.2211C>A n.647C>A c.5212C>A (p.His1738Asn) c.5167C>A (p.His1723Asn) c.1333C>A n.568C>A n.639C>A c.5239C>A (p.His1747Asn) c.4291C>A (p.His1431Asn) c.5467C>A (p.His1823Asn) c.5356C>A (p.His1786Asn) c.5278C>A (p.His1760Asn) c.4930C>A (p.His1644Asn) c.4555C>A (p.His1519Asn) c.5362C>A (p.His1788Asn) c.5464C>A (p.His1822Asn) c.5407C>A (p.His1803Asn) c.5383C>A (p.His1795Asn) c.5338C>A (p.His1780Asn) | |
3 | g.53801229C>G | CA353250605 | CACNA1D | c.5272C>G (p.His1758Asp) n.2211C>G n.647C>G c.5212C>G (p.His1738Asp) c.5167C>G (p.His1723Asp) c.1333C>G n.568C>G n.639C>G c.5239C>G (p.His1747Asp) c.4291C>G (p.His1431Asp) c.5467C>G (p.His1823Asp) c.5356C>G (p.His1786Asp) c.5278C>G (p.His1760Asp) c.4930C>G (p.His1644Asp) c.4555C>G (p.His1519Asp) c.5362C>G (p.His1788Asp) c.5464C>G (p.His1822Asp) c.5407C>G (p.His1803Asp) c.5383C>G (p.His1795Asp) c.5338C>G (p.His1780Asp) | |
3 | g.53801229C>T | CA353250608 | CACNA1D | c.5272C>T (p.His1758Tyr) n.2211C>T n.647C>T c.5212C>T (p.His1738Tyr) c.5167C>T (p.His1723Tyr) c.1333C>T n.568C>T n.639C>T c.5239C>T (p.His1747Tyr) c.4291C>T (p.His1431Tyr) c.5467C>T (p.His1823Tyr) c.5356C>T (p.His1786Tyr) c.5278C>T (p.His1760Tyr) c.4930C>T (p.His1644Tyr) c.4555C>T (p.His1519Tyr) c.5362C>T (p.His1788Tyr) c.5464C>T (p.His1822Tyr) c.5407C>T (p.His1803Tyr) c.5383C>T (p.His1795Tyr) c.5338C>T (p.His1780Tyr) | |
3 | g.53801230A= | CA1365484172 | CACNA1D | c.5273A= (p.His1758=) n.2212A= n.648A= c.5213A= (p.His1738=) c.5168A= (p.His1723=) c.1334A= n.569A= n.640A= c.5240A= (p.His1747=) c.4292A= (p.His1431=) c.5468A= (p.His1823=) c.5357A= (p.His1786=) c.5279A= (p.His1760=) c.4931A= (p.His1644=) c.4556A= (p.His1519=) c.5363A= (p.His1788=) c.5465A= (p.His1822=) c.5408A= (p.His1803=) c.5384A= (p.His1795=) c.5339A= (p.His1780=) | |
3 | g.53801230A>C | CA353250609 | CACNA1D | c.5273A>C (p.His1758Pro) n.2212A>C n.648A>C c.5213A>C (p.His1738Pro) c.5168A>C (p.His1723Pro) c.1334A>C n.569A>C n.640A>C c.5240A>C (p.His1747Pro) c.4292A>C (p.His1431Pro) c.5468A>C (p.His1823Pro) c.5357A>C (p.His1786Pro) c.5279A>C (p.His1760Pro) c.4931A>C (p.His1644Pro) c.4556A>C (p.His1519Pro) c.5363A>C (p.His1788Pro) c.5465A>C (p.His1822Pro) c.5408A>C (p.His1803Pro) c.5384A>C (p.His1795Pro) c.5339A>C (p.His1780Pro) | dbSNP |
3 | g.53801230A>G | CA353250612 | CACNA1D | c.5273A>G (p.His1758Arg) n.2212A>G n.648A>G c.5213A>G (p.His1738Arg) c.5168A>G (p.His1723Arg) c.1334A>G n.569A>G n.640A>G c.5240A>G (p.His1747Arg) c.4292A>G (p.His1431Arg) c.5468A>G (p.His1823Arg) c.5357A>G (p.His1786Arg) c.5279A>G (p.His1760Arg) c.4931A>G (p.His1644Arg) c.4556A>G (p.His1519Arg) c.5363A>G (p.His1788Arg) c.5465A>G (p.His1822Arg) c.5408A>G (p.His1803Arg) c.5384A>G (p.His1795Arg) c.5339A>G (p.His1780Arg) | |
3 | g.53801230A>T | CA353250614 | CACNA1D | c.5273A>T (p.His1758Leu) n.2212A>T n.648A>T c.5213A>T (p.His1738Leu) c.5168A>T (p.His1723Leu) c.1334A>T n.569A>T n.640A>T c.5240A>T (p.His1747Leu) c.4292A>T (p.His1431Leu) c.5468A>T (p.His1823Leu) c.5357A>T (p.His1786Leu) c.5279A>T (p.His1760Leu) c.4931A>T (p.His1644Leu) c.4556A>T (p.His1519Leu) c.5363A>T (p.His1788Leu) c.5465A>T (p.His1822Leu) c.5408A>T (p.His1803Leu) c.5384A>T (p.His1795Leu) c.5339A>T (p.His1780Leu) | |
3 | g.53801231T>A | CA353250616 | CACNA1D | c.5274T>A (p.His1758Gln) n.2213T>A n.649T>A c.5214T>A (p.His1738Gln) c.5169T>A (p.His1723Gln) c.1335T>A n.570T>A n.641T>A c.5241T>A (p.His1747Gln) c.4293T>A (p.His1431Gln) c.5469T>A (p.His1823Gln) c.5358T>A (p.His1786Gln) c.5280T>A (p.His1760Gln) c.4932T>A (p.His1644Gln) c.4557T>A (p.His1519Gln) c.5364T>A (p.His1788Gln) c.5466T>A (p.His1822Gln) c.5409T>A (p.His1803Gln) c.5385T>A (p.His1795Gln) c.5340T>A (p.His1780Gln) | |
3 | g.53801231T>C | CA433896090 | CACNA1D | c.5274T>C (p.His1758=) n.2213T>C n.649T>C c.5214T>C (p.His1738=) c.5169T>C (p.His1723=) c.1335T>C n.570T>C n.641T>C c.5241T>C (p.His1747=) c.4293T>C (p.His1431=) c.5469T>C (p.His1823=) c.5358T>C (p.His1786=) c.5280T>C (p.His1760=) c.4932T>C (p.His1644=) c.4557T>C (p.His1519=) c.5364T>C (p.His1788=) c.5466T>C (p.His1822=) c.5409T>C (p.His1803=) c.5385T>C (p.His1795=) c.5340T>C (p.His1780=) | |
3 | g.53801231T>G | CA353250618 | CACNA1D | c.5274T>G (p.His1758Gln) n.2213T>G n.649T>G c.5214T>G (p.His1738Gln) c.5169T>G (p.His1723Gln) c.1335T>G n.570T>G n.641T>G c.5241T>G (p.His1747Gln) c.4293T>G (p.His1431Gln) c.5469T>G (p.His1823Gln) c.5358T>G (p.His1786Gln) c.5280T>G (p.His1760Gln) c.4932T>G (p.His1644Gln) c.4557T>G (p.His1519Gln) c.5364T>G (p.His1788Gln) c.5466T>G (p.His1822Gln) c.5409T>G (p.His1803Gln) c.5385T>G (p.His1795Gln) c.5340T>G (p.His1780Gln) | |
3 | g.53801232A>C | CA353250620 | CACNA1D | c.5275A>C (p.Asn1759His) n.2214A>C n.650A>C c.5215A>C (p.Asn1739His) c.5170A>C (p.Asn1724His) c.1336A>C n.571A>C n.642A>C c.5242A>C (p.Asn1748His) c.4294A>C (p.Asn1432His) c.5470A>C (p.Asn1824His) c.5359A>C (p.Asn1787His) c.5281A>C (p.Asn1761His) c.4933A>C (p.Asn1645His) c.4558A>C (p.Asn1520His) c.5365A>C (p.Asn1789His) c.5467A>C (p.Asn1823His) c.5410A>C (p.Asn1804His) c.5386A>C (p.Asn1796His) c.5341A>C (p.Asn1781His) | |
3 | g.53801232A>G | CA353250624 | CACNA1D | c.5275A>G (p.Asn1759Asp) n.2214A>G n.650A>G c.5215A>G (p.Asn1739Asp) c.5170A>G (p.Asn1724Asp) c.1336A>G n.571A>G n.642A>G c.5242A>G (p.Asn1748Asp) c.4294A>G (p.Asn1432Asp) c.5470A>G (p.Asn1824Asp) c.5359A>G (p.Asn1787Asp) c.5281A>G (p.Asn1761Asp) c.4933A>G (p.Asn1645Asp) c.4558A>G (p.Asn1520Asp) c.5365A>G (p.Asn1789Asp) c.5467A>G (p.Asn1823Asp) c.5410A>G (p.Asn1804Asp) c.5386A>G (p.Asn1796Asp) c.5341A>G (p.Asn1781Asp) | |
3 | g.53801232A>T | CA353250622 | CACNA1D | c.5275A>T (p.Asn1759Tyr) n.2214A>T n.650A>T c.5215A>T (p.Asn1739Tyr) c.5170A>T (p.Asn1724Tyr) c.1336A>T n.571A>T n.642A>T c.5242A>T (p.Asn1748Tyr) c.4294A>T (p.Asn1432Tyr) c.5470A>T (p.Asn1824Tyr) c.5359A>T (p.Asn1787Tyr) c.5281A>T (p.Asn1761Tyr) c.4933A>T (p.Asn1645Tyr) c.4558A>T (p.Asn1520Tyr) c.5365A>T (p.Asn1789Tyr) c.5467A>T (p.Asn1823Tyr) c.5410A>T (p.Asn1804Tyr) c.5386A>T (p.Asn1796Tyr) c.5341A>T (p.Asn1781Tyr) | |
3 | g.53801233A= | CA1365484173 | CACNA1D | c.5276A= (p.Asn1759=) n.2215A= n.651A= c.5216A= (p.Asn1739=) c.5171A= (p.Asn1724=) c.1337A= n.572A= n.643A= c.5243A= (p.Asn1748=) c.4295A= (p.Asn1432=) c.5471A= (p.Asn1824=) c.5360A= (p.Asn1787=) c.5282A= (p.Asn1761=) c.4934A= (p.Asn1645=) c.4559A= (p.Asn1520=) c.5366A= (p.Asn1789=) c.5468A= (p.Asn1823=) c.5411A= (p.Asn1804=) c.5387A= (p.Asn1796=) c.5342A= (p.Asn1781=) | |
3 | g.53801233A>C | CA353250627 | CACNA1D | c.5276A>C (p.Asn1759Thr) n.2215A>C n.651A>C c.5216A>C (p.Asn1739Thr) c.5171A>C (p.Asn1724Thr) c.1337A>C n.572A>C n.643A>C c.5243A>C (p.Asn1748Thr) c.4295A>C (p.Asn1432Thr) c.5471A>C (p.Asn1824Thr) c.5360A>C (p.Asn1787Thr) c.5282A>C (p.Asn1761Thr) c.4934A>C (p.Asn1645Thr) c.4559A>C (p.Asn1520Thr) c.5366A>C (p.Asn1789Thr) c.5468A>C (p.Asn1823Thr) c.5411A>C (p.Asn1804Thr) c.5387A>C (p.Asn1796Thr) c.5342A>C (p.Asn1781Thr) | |
3 | g.53801233A>G | CA353250629 | CACNA1D | c.5276A>G (p.Asn1759Ser) n.2215A>G n.651A>G c.5216A>G (p.Asn1739Ser) c.5171A>G (p.Asn1724Ser) c.1337A>G n.572A>G n.643A>G c.5243A>G (p.Asn1748Ser) c.4295A>G (p.Asn1432Ser) c.5471A>G (p.Asn1824Ser) c.5360A>G (p.Asn1787Ser) c.5282A>G (p.Asn1761Ser) c.4934A>G (p.Asn1645Ser) c.4559A>G (p.Asn1520Ser) c.5366A>G (p.Asn1789Ser) c.5468A>G (p.Asn1823Ser) c.5411A>G (p.Asn1804Ser) c.5387A>G (p.Asn1796Ser) c.5342A>G (p.Asn1781Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.53801233A>T | CA353250630 | CACNA1D | c.5276A>T (p.Asn1759Ile) n.2215A>T n.651A>T c.5216A>T (p.Asn1739Ile) c.5171A>T (p.Asn1724Ile) c.1337A>T n.572A>T n.643A>T c.5243A>T (p.Asn1748Ile) c.4295A>T (p.Asn1432Ile) c.5471A>T (p.Asn1824Ile) c.5360A>T (p.Asn1787Ile) c.5282A>T (p.Asn1761Ile) c.4934A>T (p.Asn1645Ile) c.4559A>T (p.Asn1520Ile) c.5366A>T (p.Asn1789Ile) c.5468A>T (p.Asn1823Ile) c.5411A>T (p.Asn1804Ile) c.5387A>T (p.Asn1796Ile) c.5342A>T (p.Asn1781Ile) | |
3 | g.53801234C>A | CA353250633 | CACNA1D | c.5277C>A (p.Asn1759Lys) n.2216C>A n.652C>A c.5217C>A (p.Asn1739Lys) c.5172C>A (p.Asn1724Lys) c.1338C>A n.573C>A n.644C>A c.5244C>A (p.Asn1748Lys) c.4296C>A (p.Asn1432Lys) c.5472C>A (p.Asn1824Lys) c.5361C>A (p.Asn1787Lys) c.5283C>A (p.Asn1761Lys) c.4935C>A (p.Asn1645Lys) c.4560C>A (p.Asn1520Lys) c.5367C>A (p.Asn1789Lys) c.5469C>A (p.Asn1823Lys) c.5412C>A (p.Asn1804Lys) c.5388C>A (p.Asn1796Lys) c.5343C>A (p.Asn1781Lys) | |
3 | g.53801234C>G | CA353250635 | CACNA1D | c.5277C>G (p.Asn1759Lys) n.2216C>G n.652C>G c.5217C>G (p.Asn1739Lys) c.5172C>G (p.Asn1724Lys) c.1338C>G n.573C>G n.644C>G c.5244C>G (p.Asn1748Lys) c.4296C>G (p.Asn1432Lys) c.5472C>G (p.Asn1824Lys) c.5361C>G (p.Asn1787Lys) c.5283C>G (p.Asn1761Lys) c.4935C>G (p.Asn1645Lys) c.4560C>G (p.Asn1520Lys) c.5367C>G (p.Asn1789Lys) c.5469C>G (p.Asn1823Lys) c.5412C>G (p.Asn1804Lys) c.5388C>G (p.Asn1796Lys) c.5343C>G (p.Asn1781Lys) | |
3 | g.53801234C>T | CA433896094 | CACNA1D | c.5277C>T (p.Asn1759=) n.2216C>T n.652C>T c.5217C>T (p.Asn1739=) c.5172C>T (p.Asn1724=) c.1338C>T n.573C>T n.644C>T c.5244C>T (p.Asn1748=) c.4296C>T (p.Asn1432=) c.5472C>T (p.Asn1824=) c.5361C>T (p.Asn1787=) c.5283C>T (p.Asn1761=) c.4935C>T (p.Asn1645=) c.4560C>T (p.Asn1520=) c.5367C>T (p.Asn1789=) c.5469C>T (p.Asn1823=) c.5412C>T (p.Asn1804=) c.5388C>T (p.Asn1796=) c.5343C>T (p.Asn1781=) | |
3 | g.53801235C>A | CA353250638 | CACNA1D | c.5278C>A (p.His1760Asn) n.2217C>A n.653C>A c.5218C>A (p.His1740Asn) c.5173C>A (p.His1725Asn) c.1339C>A n.574C>A n.645C>A c.5245C>A (p.His1749Asn) c.4297C>A (p.His1433Asn) c.5473C>A (p.His1825Asn) c.5362C>A (p.His1788Asn) c.5284C>A (p.His1762Asn) c.4936C>A (p.His1646Asn) c.4561C>A (p.His1521Asn) c.5368C>A (p.His1790Asn) c.5470C>A (p.His1824Asn) c.5413C>A (p.His1805Asn) c.5389C>A (p.His1797Asn) c.5344C>A (p.His1782Asn) | |
3 | g.53801235C= | CA1365484174 | CACNA1D | c.5278C= (p.His1760=) n.2217C= n.653C= c.5218C= (p.His1740=) c.5173C= (p.His1725=) c.1339C= n.574C= n.645C= c.5245C= (p.His1749=) c.4297C= (p.His1433=) c.5473C= (p.His1825=) c.5362C= (p.His1788=) c.5284C= (p.His1762=) c.4936C= (p.His1646=) c.4561C= (p.His1521=) c.5368C= (p.His1790=) c.5470C= (p.His1824=) c.5413C= (p.His1805=) c.5389C= (p.His1797=) c.5344C= (p.His1782=) | |
3 | g.53801235C>G | CA353250639 | CACNA1D | c.5278C>G (p.His1760Asp) n.2217C>G n.653C>G c.5218C>G (p.His1740Asp) c.5173C>G (p.His1725Asp) c.1339C>G n.574C>G n.645C>G c.5245C>G (p.His1749Asp) c.4297C>G (p.His1433Asp) c.5473C>G (p.His1825Asp) c.5362C>G (p.His1788Asp) c.5284C>G (p.His1762Asp) c.4936C>G (p.His1646Asp) c.4561C>G (p.His1521Asp) c.5368C>G (p.His1790Asp) c.5470C>G (p.His1824Asp) c.5413C>G (p.His1805Asp) c.5389C>G (p.His1797Asp) c.5344C>G (p.His1782Asp) | |
3 | g.53801235C>T | CA353250641 | CACNA1D | c.5278C>T (p.His1760Tyr) n.2217C>T n.653C>T c.5218C>T (p.His1740Tyr) c.5173C>T (p.His1725Tyr) c.1339C>T n.574C>T n.645C>T c.5245C>T (p.His1749Tyr) c.4297C>T (p.His1433Tyr) c.5473C>T (p.His1825Tyr) c.5362C>T (p.His1788Tyr) c.5284C>T (p.His1762Tyr) c.4936C>T (p.His1646Tyr) c.4561C>T (p.His1521Tyr) c.5368C>T (p.His1790Tyr) c.5470C>T (p.His1824Tyr) c.5413C>T (p.His1805Tyr) c.5389C>T (p.His1797Tyr) c.5344C>T (p.His1782Tyr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.53801236A= | CA1365484175 | CACNA1D | c.5279A= (p.His1760=) n.2218A= n.654A= c.5219A= (p.His1740=) c.5174A= (p.His1725=) c.1340A= n.575A= n.646A= c.5246A= (p.His1749=) c.4298A= (p.His1433=) c.5474A= (p.His1825=) c.5363A= (p.His1788=) c.5285A= (p.His1762=) c.4937A= (p.His1646=) c.4562A= (p.His1521=) c.5369A= (p.His1790=) c.5471A= (p.His1824=) c.5414A= (p.His1805=) c.5390A= (p.His1797=) c.5345A= (p.His1782=) | |
3 | g.53801236A>C | CA353250643 | CACNA1D | c.5279A>C (p.His1760Pro) n.2218A>C n.654A>C c.5219A>C (p.His1740Pro) c.5174A>C (p.His1725Pro) c.1340A>C n.575A>C n.646A>C c.5246A>C (p.His1749Pro) c.4298A>C (p.His1433Pro) c.5474A>C (p.His1825Pro) c.5363A>C (p.His1788Pro) c.5285A>C (p.His1762Pro) c.4937A>C (p.His1646Pro) c.4562A>C (p.His1521Pro) c.5369A>C (p.His1790Pro) c.5471A>C (p.His1824Pro) c.5414A>C (p.His1805Pro) c.5390A>C (p.His1797Pro) c.5345A>C (p.His1782Pro) | |
3 | g.53801236A>G | CA2455088 | CACNA1D | c.5279A>G (p.His1760Arg) n.2218A>G n.654A>G c.5219A>G (p.His1740Arg) c.5174A>G (p.His1725Arg) c.1340A>G n.575A>G n.646A>G c.5246A>G (p.His1749Arg) c.4298A>G (p.His1433Arg) c.5474A>G (p.His1825Arg) c.5363A>G (p.His1788Arg) c.5285A>G (p.His1762Arg) c.4937A>G (p.His1646Arg) c.4562A>G (p.His1521Arg) c.5369A>G (p.His1790Arg) c.5471A>G (p.His1824Arg) c.5414A>G (p.His1805Arg) c.5390A>G (p.His1797Arg) c.5345A>G (p.His1782Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.53801236A>T | CA353250646 | CACNA1D | c.5279A>T (p.His1760Leu) n.2218A>T n.654A>T c.5219A>T (p.His1740Leu) c.5174A>T (p.His1725Leu) c.1340A>T n.575A>T n.646A>T c.5246A>T (p.His1749Leu) c.4298A>T (p.His1433Leu) c.5474A>T (p.His1825Leu) c.5363A>T (p.His1788Leu) c.5285A>T (p.His1762Leu) c.4937A>T (p.His1646Leu) c.4562A>T (p.His1521Leu) c.5369A>T (p.His1790Leu) c.5471A>T (p.His1824Leu) c.5414A>T (p.His1805Leu) c.5390A>T (p.His1797Leu) c.5345A>T (p.His1782Leu) | |
3 | g.53801237T>A | CA353250651 | CACNA1D | c.5280T>A (p.His1760Gln) n.2219T>A n.655T>A c.5220T>A (p.His1740Gln) c.5175T>A (p.His1725Gln) c.1341T>A n.576T>A n.647T>A c.5247T>A (p.His1749Gln) c.4299T>A (p.His1433Gln) c.5475T>A (p.His1825Gln) c.5364T>A (p.His1788Gln) c.5286T>A (p.His1762Gln) c.4938T>A (p.His1646Gln) c.4563T>A (p.His1521Gln) c.5370T>A (p.His1790Gln) c.5472T>A (p.His1824Gln) c.5415T>A (p.His1805Gln) c.5391T>A (p.His1797Gln) c.5346T>A (p.His1782Gln) | |
3 | g.53801237T>C | CA433896101 | CACNA1D | c.5280T>C (p.His1760=) n.2219T>C n.655T>C c.5220T>C (p.His1740=) c.5175T>C (p.His1725=) c.1341T>C n.576T>C n.647T>C c.5247T>C (p.His1749=) c.4299T>C (p.His1433=) c.5475T>C (p.His1825=) c.5364T>C (p.His1788=) c.5286T>C (p.His1762=) c.4938T>C (p.His1646=) c.4563T>C (p.His1521=) c.5370T>C (p.His1790=) c.5472T>C (p.His1824=) c.5415T>C (p.His1805=) c.5391T>C (p.His1797=) c.5346T>C (p.His1782=) | |
3 | g.53801237T>G | CA353250649 | CACNA1D | c.5280T>G (p.His1760Gln) n.2219T>G n.655T>G c.5220T>G (p.His1740Gln) c.5175T>G (p.His1725Gln) c.1341T>G n.576T>G n.647T>G c.5247T>G (p.His1749Gln) c.4299T>G (p.His1433Gln) c.5475T>G (p.His1825Gln) c.5364T>G (p.His1788Gln) c.5286T>G (p.His1762Gln) c.4938T>G (p.His1646Gln) c.4563T>G (p.His1521Gln) c.5370T>G (p.His1790Gln) c.5472T>G (p.His1824Gln) c.5415T>G (p.His1805Gln) c.5391T>G (p.His1797Gln) c.5346T>G (p.His1782Gln) | |
3 | g.53801238C>A | CA353250652 | CACNA1D | c.5281C>A (p.His1761Asn) n.2220C>A n.656C>A c.5221C>A (p.His1741Asn) c.5176C>A (p.His1726Asn) c.1342C>A n.577C>A n.648C>A c.5248C>A (p.His1750Asn) c.4300C>A (p.His1434Asn) c.5476C>A (p.His1826Asn) c.5365C>A (p.His1789Asn) c.5287C>A (p.His1763Asn) c.4939C>A (p.His1647Asn) c.4564C>A (p.His1522Asn) c.5371C>A (p.His1791Asn) c.5473C>A (p.His1825Asn) c.5416C>A (p.His1806Asn) c.5392C>A (p.His1798Asn) c.5347C>A (p.His1783Asn) | |
3 | g.53801238C>G | CA353250653 | CACNA1D | c.5281C>G (p.His1761Asp) n.2220C>G n.656C>G c.5221C>G (p.His1741Asp) c.5176C>G (p.His1726Asp) c.1342C>G n.577C>G n.648C>G c.5248C>G (p.His1750Asp) c.4300C>G (p.His1434Asp) c.5476C>G (p.His1826Asp) c.5365C>G (p.His1789Asp) c.5287C>G (p.His1763Asp) c.4939C>G (p.His1647Asp) c.4564C>G (p.His1522Asp) c.5371C>G (p.His1791Asp) c.5473C>G (p.His1825Asp) c.5416C>G (p.His1806Asp) c.5392C>G (p.His1798Asp) c.5347C>G (p.His1783Asp) | |
3 | g.53801238C>T | CA353250654 | CACNA1D | c.5281C>T (p.His1761Tyr) n.2220C>T n.656C>T c.5221C>T (p.His1741Tyr) c.5176C>T (p.His1726Tyr) c.1342C>T n.577C>T n.648C>T c.5248C>T (p.His1750Tyr) c.4300C>T (p.His1434Tyr) c.5476C>T (p.His1826Tyr) c.5365C>T (p.His1789Tyr) c.5287C>T (p.His1763Tyr) c.4939C>T (p.His1647Tyr) c.4564C>T (p.His1522Tyr) c.5371C>T (p.His1791Tyr) c.5473C>T (p.His1825Tyr) c.5416C>T (p.His1806Tyr) c.5392C>T (p.His1798Tyr) c.5347C>T (p.His1783Tyr) | |
3 | g.53801239A>C | CA353250656 | CACNA1D | c.5282A>C (p.His1761Pro) n.2221A>C n.657A>C c.5222A>C (p.His1741Pro) c.5177A>C (p.His1726Pro) c.1343A>C n.578A>C n.649A>C c.5249A>C (p.His1750Pro) c.4301A>C (p.His1434Pro) c.5477A>C (p.His1826Pro) c.5366A>C (p.His1789Pro) c.5288A>C (p.His1763Pro) c.4940A>C (p.His1647Pro) c.4565A>C (p.His1522Pro) c.5372A>C (p.His1791Pro) c.5474A>C (p.His1825Pro) c.5417A>C (p.His1806Pro) c.5393A>C (p.His1798Pro) c.5348A>C (p.His1783Pro) | |
3 | g.53801239A>G | CA353250657 | CACNA1D | c.5282A>G (p.His1761Arg) n.2221A>G n.657A>G c.5222A>G (p.His1741Arg) c.5177A>G (p.His1726Arg) c.1343A>G n.578A>G n.649A>G c.5249A>G (p.His1750Arg) c.4301A>G (p.His1434Arg) c.5477A>G (p.His1826Arg) c.5366A>G (p.His1789Arg) c.5288A>G (p.His1763Arg) c.4940A>G (p.His1647Arg) c.4565A>G (p.His1522Arg) c.5372A>G (p.His1791Arg) c.5474A>G (p.His1825Arg) c.5417A>G (p.His1806Arg) c.5393A>G (p.His1798Arg) c.5348A>G (p.His1783Arg) | gnomAD v4 |
3 | g.53801239A>T | CA353250659 | CACNA1D | c.5282A>T (p.His1761Leu) n.2221A>T n.657A>T c.5222A>T (p.His1741Leu) c.5177A>T (p.His1726Leu) c.1343A>T n.578A>T n.649A>T c.5249A>T (p.His1750Leu) c.4301A>T (p.His1434Leu) c.5477A>T (p.His1826Leu) c.5366A>T (p.His1789Leu) c.5288A>T (p.His1763Leu) c.4940A>T (p.His1647Leu) c.4565A>T (p.His1522Leu) c.5372A>T (p.His1791Leu) c.5474A>T (p.His1825Leu) c.5417A>T (p.His1806Leu) c.5393A>T (p.His1798Leu) c.5348A>T (p.His1783Leu) | |
3 | g.53801240T>A | CA353250661 | CACNA1D | c.5283T>A (p.His1761Gln) n.2222T>A n.658T>A c.5223T>A (p.His1741Gln) c.5178T>A (p.His1726Gln) c.1344T>A n.579T>A n.650T>A c.5250T>A (p.His1750Gln) c.4302T>A (p.His1434Gln) c.5478T>A (p.His1826Gln) c.5367T>A (p.His1789Gln) c.5289T>A (p.His1763Gln) c.4941T>A (p.His1647Gln) c.4566T>A (p.His1522Gln) c.5373T>A (p.His1791Gln) c.5475T>A (p.His1825Gln) c.5418T>A (p.His1806Gln) c.5394T>A (p.His1798Gln) c.5349T>A (p.His1783Gln) | |
3 | g.53801240T>C | CA433896105 | CACNA1D | c.5283T>C (p.His1761=) n.2222T>C n.658T>C c.5223T>C (p.His1741=) c.5178T>C (p.His1726=) c.1344T>C n.579T>C n.650T>C c.5250T>C (p.His1750=) c.4302T>C (p.His1434=) c.5478T>C (p.His1826=) c.5367T>C (p.His1789=) c.5289T>C (p.His1763=) c.4941T>C (p.His1647=) c.4566T>C (p.His1522=) c.5373T>C (p.His1791=) c.5475T>C (p.His1825=) c.5418T>C (p.His1806=) c.5394T>C (p.His1798=) c.5349T>C (p.His1783=) | |
3 | g.53801240T>G | CA353250663 | CACNA1D | c.5283T>G (p.His1761Gln) n.2222T>G n.658T>G c.5223T>G (p.His1741Gln) c.5178T>G (p.His1726Gln) c.1344T>G n.579T>G n.650T>G c.5250T>G (p.His1750Gln) c.4302T>G (p.His1434Gln) c.5478T>G (p.His1826Gln) c.5367T>G (p.His1789Gln) c.5289T>G (p.His1763Gln) c.4941T>G (p.His1647Gln) c.4566T>G (p.His1522Gln) c.5373T>G (p.His1791Gln) c.5475T>G (p.His1825Gln) c.5418T>G (p.His1806Gln) c.5394T>G (p.His1798Gln) c.5349T>G (p.His1783Gln) | |
3 | g.53801241A>C | CA353250665 | CACNA1D | c.5284A>C (p.Asn1762His) n.2223A>C n.659A>C c.5224A>C (p.Asn1742His) c.5179A>C (p.Asn1727His) c.1345A>C n.580A>C n.651A>C c.5251A>C (p.Asn1751His) c.4303A>C (p.Asn1435His) c.5479A>C (p.Asn1827His) c.5368A>C (p.Asn1790His) c.5290A>C (p.Asn1764His) c.4942A>C (p.Asn1648His) c.4567A>C (p.Asn1523His) c.5374A>C (p.Asn1792His) c.5476A>C (p.Asn1826His) c.5419A>C (p.Asn1807His) c.5395A>C (p.Asn1799His) c.5350A>C (p.Asn1784His) | |
3 | g.53801241A>G | CA353250667 | CACNA1D | c.5284A>G (p.Asn1762Asp) n.2223A>G n.659A>G c.5224A>G (p.Asn1742Asp) c.5179A>G (p.Asn1727Asp) c.1345A>G n.580A>G n.651A>G c.5251A>G (p.Asn1751Asp) c.4303A>G (p.Asn1435Asp) c.5479A>G (p.Asn1827Asp) c.5368A>G (p.Asn1790Asp) c.5290A>G (p.Asn1764Asp) c.4942A>G (p.Asn1648Asp) c.4567A>G (p.Asn1523Asp) c.5374A>G (p.Asn1792Asp) c.5476A>G (p.Asn1826Asp) c.5419A>G (p.Asn1807Asp) c.5395A>G (p.Asn1799Asp) c.5350A>G (p.Asn1784Asp) | |
3 | g.53801241A>T | CA353250669 | CACNA1D | c.5284A>T (p.Asn1762Tyr) n.2223A>T n.659A>T c.5224A>T (p.Asn1742Tyr) c.5179A>T (p.Asn1727Tyr) c.1345A>T n.580A>T n.651A>T c.5251A>T (p.Asn1751Tyr) c.4303A>T (p.Asn1435Tyr) c.5479A>T (p.Asn1827Tyr) c.5368A>T (p.Asn1790Tyr) c.5290A>T (p.Asn1764Tyr) c.4942A>T (p.Asn1648Tyr) c.4567A>T (p.Asn1523Tyr) c.5374A>T (p.Asn1792Tyr) c.5476A>T (p.Asn1826Tyr) c.5419A>T (p.Asn1807Tyr) c.5395A>T (p.Asn1799Tyr) c.5350A>T (p.Asn1784Tyr) | |
3 | g.53801242A>C | CA353250671 | CACNA1D | c.5285A>C (p.Asn1762Thr) n.2224A>C n.660A>C c.5225A>C (p.Asn1742Thr) c.5180A>C (p.Asn1727Thr) c.1346A>C n.581A>C n.652A>C c.5252A>C (p.Asn1751Thr) c.4304A>C (p.Asn1435Thr) c.5480A>C (p.Asn1827Thr) c.5369A>C (p.Asn1790Thr) c.5291A>C (p.Asn1764Thr) c.4943A>C (p.Asn1648Thr) c.4568A>C (p.Asn1523Thr) c.5375A>C (p.Asn1792Thr) c.5477A>C (p.Asn1826Thr) c.5420A>C (p.Asn1807Thr) c.5396A>C (p.Asn1799Thr) c.5351A>C (p.Asn1784Thr) | |
3 | g.53801242A>G | CA353250673 | CACNA1D | c.5285A>G (p.Asn1762Ser) n.2224A>G n.660A>G c.5225A>G (p.Asn1742Ser) c.5180A>G (p.Asn1727Ser) c.1346A>G n.581A>G n.652A>G c.5252A>G (p.Asn1751Ser) c.4304A>G (p.Asn1435Ser) c.5480A>G (p.Asn1827Ser) c.5369A>G (p.Asn1790Ser) c.5291A>G (p.Asn1764Ser) c.4943A>G (p.Asn1648Ser) c.4568A>G (p.Asn1523Ser) c.5375A>G (p.Asn1792Ser) c.5477A>G (p.Asn1826Ser) c.5420A>G (p.Asn1807Ser) c.5396A>G (p.Asn1799Ser) c.5351A>G (p.Asn1784Ser) | |
3 | g.53801242A>T | CA353250675 | CACNA1D | c.5285A>T (p.Asn1762Ile) n.2224A>T n.660A>T c.5225A>T (p.Asn1742Ile) c.5180A>T (p.Asn1727Ile) c.1346A>T n.581A>T n.652A>T c.5252A>T (p.Asn1751Ile) c.4304A>T (p.Asn1435Ile) c.5480A>T (p.Asn1827Ile) c.5369A>T (p.Asn1790Ile) c.5291A>T (p.Asn1764Ile) c.4943A>T (p.Asn1648Ile) c.4568A>T (p.Asn1523Ile) c.5375A>T (p.Asn1792Ile) c.5477A>T (p.Asn1826Ile) c.5420A>T (p.Asn1807Ile) c.5396A>T (p.Asn1799Ile) c.5351A>T (p.Asn1784Ile) | |
3 | g.53801243C>A | CA353250679 | CACNA1D | c.5286C>A (p.Asn1762Lys) n.2225C>A n.661C>A c.5226C>A (p.Asn1742Lys) c.5181C>A (p.Asn1727Lys) c.1347C>A n.582C>A n.653C>A c.5253C>A (p.Asn1751Lys) c.4305C>A (p.Asn1435Lys) c.5481C>A (p.Asn1827Lys) c.5370C>A (p.Asn1790Lys) c.5292C>A (p.Asn1764Lys) c.4944C>A (p.Asn1648Lys) c.4569C>A (p.Asn1523Lys) c.5376C>A (p.Asn1792Lys) c.5478C>A (p.Asn1826Lys) c.5421C>A (p.Asn1807Lys) c.5397C>A (p.Asn1799Lys) c.5352C>A (p.Asn1784Lys) | |
3 | g.53801243C>G | CA353250677 | CACNA1D | c.5286C>G (p.Asn1762Lys) n.2225C>G n.661C>G c.5226C>G (p.Asn1742Lys) c.5181C>G (p.Asn1727Lys) c.1347C>G n.582C>G n.653C>G c.5253C>G (p.Asn1751Lys) c.4305C>G (p.Asn1435Lys) c.5481C>G (p.Asn1827Lys) c.5370C>G (p.Asn1790Lys) c.5292C>G (p.Asn1764Lys) c.4944C>G (p.Asn1648Lys) c.4569C>G (p.Asn1523Lys) c.5376C>G (p.Asn1792Lys) c.5478C>G (p.Asn1826Lys) c.5421C>G (p.Asn1807Lys) c.5397C>G (p.Asn1799Lys) c.5352C>G (p.Asn1784Lys) | |
3 | g.53801243C>T | CA433896109 | CACNA1D | c.5286C>T (p.Asn1762=) n.2225C>T n.661C>T c.5226C>T (p.Asn1742=) c.5181C>T (p.Asn1727=) c.1347C>T n.582C>T n.653C>T c.5253C>T (p.Asn1751=) c.4305C>T (p.Asn1435=) c.5481C>T (p.Asn1827=) c.5370C>T (p.Asn1790=) c.5292C>T (p.Asn1764=) c.4944C>T (p.Asn1648=) c.4569C>T (p.Asn1523=) c.5376C>T (p.Asn1792=) c.5478C>T (p.Asn1826=) c.5421C>T (p.Asn1807=) c.5397C>T (p.Asn1799=) c.5352C>T (p.Asn1784=) | |
3 | g.53801244C>A | CA353250681 | CACNA1D | c.5287C>A (p.His1763Asn) n.2226C>A n.662C>A c.5227C>A (p.His1743Asn) c.5182C>A (p.His1728Asn) c.1348C>A n.583C>A n.654C>A c.5254C>A (p.His1752Asn) c.4306C>A (p.His1436Asn) c.5482C>A (p.His1828Asn) c.5371C>A (p.His1791Asn) c.5293C>A (p.His1765Asn) c.4945C>A (p.His1649Asn) c.4570C>A (p.His1524Asn) c.5377C>A (p.His1793Asn) c.5479C>A (p.His1827Asn) c.5422C>A (p.His1808Asn) c.5398C>A (p.His1800Asn) c.5353C>A (p.His1785Asn) | |
3 | g.53801244C>G | CA353250683 | CACNA1D | c.5287C>G (p.His1763Asp) n.2226C>G n.662C>G c.5227C>G (p.His1743Asp) c.5182C>G (p.His1728Asp) c.1348C>G n.583C>G n.654C>G c.5254C>G (p.His1752Asp) c.4306C>G (p.His1436Asp) c.5482C>G (p.His1828Asp) c.5371C>G (p.His1791Asp) c.5293C>G (p.His1765Asp) c.4945C>G (p.His1649Asp) c.4570C>G (p.His1524Asp) c.5377C>G (p.His1793Asp) c.5479C>G (p.His1827Asp) c.5422C>G (p.His1808Asp) c.5398C>G (p.His1800Asp) c.5353C>G (p.His1785Asp) | |
3 | g.53801244C>T | CA353250685 | CACNA1D | c.5287C>T (p.His1763Tyr) n.2226C>T n.662C>T c.5227C>T (p.His1743Tyr) c.5182C>T (p.His1728Tyr) c.1348C>T n.583C>T n.654C>T c.5254C>T (p.His1752Tyr) c.4306C>T (p.His1436Tyr) c.5482C>T (p.His1828Tyr) c.5371C>T (p.His1791Tyr) c.5293C>T (p.His1765Tyr) c.4945C>T (p.His1649Tyr) c.4570C>T (p.His1524Tyr) c.5377C>T (p.His1793Tyr) c.5479C>T (p.His1827Tyr) c.5422C>T (p.His1808Tyr) c.5398C>T (p.His1800Tyr) c.5353C>T (p.His1785Tyr) | |
3 | g.53801245A= | CA1365484176 | CACNA1D | c.5288A= (p.His1763=) n.2227A= n.663A= c.5228A= (p.His1743=) c.5183A= (p.His1728=) c.1349A= n.584A= n.655A= c.5255A= (p.His1752=) c.4307A= (p.His1436=) c.5483A= (p.His1828=) c.5372A= (p.His1791=) c.5294A= (p.His1765=) c.4946A= (p.His1649=) c.4571A= (p.His1524=) c.5378A= (p.His1793=) c.5480A= (p.His1827=) c.5423A= (p.His1808=) c.5399A= (p.His1800=) c.5354A= (p.His1785=) | |
3 | g.53801245A>C | CA353250687 | CACNA1D | c.5288A>C (p.His1763Pro) n.2227A>C n.663A>C c.5228A>C (p.His1743Pro) c.5183A>C (p.His1728Pro) c.1349A>C n.584A>C n.655A>C c.5255A>C (p.His1752Pro) c.4307A>C (p.His1436Pro) c.5483A>C (p.His1828Pro) c.5372A>C (p.His1791Pro) c.5294A>C (p.His1765Pro) c.4946A>C (p.His1649Pro) c.4571A>C (p.His1524Pro) c.5378A>C (p.His1793Pro) c.5480A>C (p.His1827Pro) c.5423A>C (p.His1808Pro) c.5399A>C (p.His1800Pro) c.5354A>C (p.His1785Pro) | |
3 | g.53801245A>G | CA353250689 | CACNA1D | c.5288A>G (p.His1763Arg) n.2227A>G n.663A>G c.5228A>G (p.His1743Arg) c.5183A>G (p.His1728Arg) c.1349A>G n.584A>G n.655A>G c.5255A>G (p.His1752Arg) c.4307A>G (p.His1436Arg) c.5483A>G (p.His1828Arg) c.5372A>G (p.His1791Arg) c.5294A>G (p.His1765Arg) c.4946A>G (p.His1649Arg) c.4571A>G (p.His1524Arg) c.5378A>G (p.His1793Arg) c.5480A>G (p.His1827Arg) c.5423A>G (p.His1808Arg) c.5399A>G (p.His1800Arg) c.5354A>G (p.His1785Arg) | dbSNP |
3 | g.53801245A>T | CA353250691 | CACNA1D | c.5288A>T (p.His1763Leu) n.2227A>T n.663A>T c.5228A>T (p.His1743Leu) c.5183A>T (p.His1728Leu) c.1349A>T n.584A>T n.655A>T c.5255A>T (p.His1752Leu) c.4307A>T (p.His1436Leu) c.5483A>T (p.His1828Leu) c.5372A>T (p.His1791Leu) c.5294A>T (p.His1765Leu) c.4946A>T (p.His1649Leu) c.4571A>T (p.His1524Leu) c.5378A>T (p.His1793Leu) c.5480A>T (p.His1827Leu) c.5423A>T (p.His1808Leu) c.5399A>T (p.His1800Leu) c.5354A>T (p.His1785Leu) | |
3 | g.53801246T>A | CA353250692 | CACNA1D | c.5289T>A (p.His1763Gln) n.2228T>A n.664T>A c.5229T>A (p.His1743Gln) c.5184T>A (p.His1728Gln) c.1350T>A n.585T>A n.656T>A c.5256T>A (p.His1752Gln) c.4308T>A (p.His1436Gln) c.5484T>A (p.His1828Gln) c.5373T>A (p.His1791Gln) c.5295T>A (p.His1765Gln) c.4947T>A (p.His1649Gln) c.4572T>A (p.His1524Gln) c.5379T>A (p.His1793Gln) c.5481T>A (p.His1827Gln) c.5424T>A (p.His1808Gln) c.5400T>A (p.His1800Gln) c.5355T>A (p.His1785Gln) | |
3 | g.53801246T>C | CA433896112 | CACNA1D | c.5289T>C (p.His1763=) n.2228T>C n.664T>C c.5229T>C (p.His1743=) c.5184T>C (p.His1728=) c.1350T>C n.585T>C n.656T>C c.5256T>C (p.His1752=) c.4308T>C (p.His1436=) c.5484T>C (p.His1828=) c.5373T>C (p.His1791=) c.5295T>C (p.His1765=) c.4947T>C (p.His1649=) c.4572T>C (p.His1524=) c.5379T>C (p.His1793=) c.5481T>C (p.His1827=) c.5424T>C (p.His1808=) c.5400T>C (p.His1800=) c.5355T>C (p.His1785=) | |
3 | g.53801246T>G | CA353250693 | CACNA1D | c.5289T>G (p.His1763Gln) n.2228T>G n.664T>G c.5229T>G (p.His1743Gln) c.5184T>G (p.His1728Gln) c.1350T>G n.585T>G n.656T>G c.5256T>G (p.His1752Gln) c.4308T>G (p.His1436Gln) c.5484T>G (p.His1828Gln) c.5373T>G (p.His1791Gln) c.5295T>G (p.His1765Gln) c.4947T>G (p.His1649Gln) c.4572T>G (p.His1524Gln) c.5379T>G (p.His1793Gln) c.5481T>G (p.His1827Gln) c.5424T>G (p.His1808Gln) c.5400T>G (p.His1800Gln) c.5355T>G (p.His1785Gln) | |
3 | g.53801247A>C | CA353250695 | CACNA1D | c.5290A>C (p.Asn1764His) n.2229A>C n.665A>C c.5230A>C (p.Asn1744His) c.5185A>C (p.Asn1729His) c.1351A>C n.586A>C n.657A>C c.5257A>C (p.Asn1753His) c.4309A>C (p.Asn1437His) c.5485A>C (p.Asn1829His) c.5374A>C (p.Asn1792His) c.5296A>C (p.Asn1766His) c.4948A>C (p.Asn1650His) c.4573A>C (p.Asn1525His) c.5380A>C (p.Asn1794His) c.5482A>C (p.Asn1828His) c.5425A>C (p.Asn1809His) c.5401A>C (p.Asn1801His) c.5356A>C (p.Asn1786His) | |
3 | g.53801247A>G | CA353250697 | CACNA1D | c.5290A>G (p.Asn1764Asp) n.2229A>G n.665A>G c.5230A>G (p.Asn1744Asp) c.5185A>G (p.Asn1729Asp) c.1351A>G n.586A>G n.657A>G c.5257A>G (p.Asn1753Asp) c.4309A>G (p.Asn1437Asp) c.5485A>G (p.Asn1829Asp) c.5374A>G (p.Asn1792Asp) c.5296A>G (p.Asn1766Asp) c.4948A>G (p.Asn1650Asp) c.4573A>G (p.Asn1525Asp) c.5380A>G (p.Asn1794Asp) c.5482A>G (p.Asn1828Asp) c.5425A>G (p.Asn1809Asp) c.5401A>G (p.Asn1801Asp) c.5356A>G (p.Asn1786Asp) | |
3 | g.53801247A>T | CA353250698 | CACNA1D | c.5290A>T (p.Asn1764Tyr) n.2229A>T n.665A>T c.5230A>T (p.Asn1744Tyr) c.5185A>T (p.Asn1729Tyr) c.1351A>T n.586A>T n.657A>T c.5257A>T (p.Asn1753Tyr) c.4309A>T (p.Asn1437Tyr) c.5485A>T (p.Asn1829Tyr) c.5374A>T (p.Asn1792Tyr) c.5296A>T (p.Asn1766Tyr) c.4948A>T (p.Asn1650Tyr) c.4573A>T (p.Asn1525Tyr) c.5380A>T (p.Asn1794Tyr) c.5482A>T (p.Asn1828Tyr) c.5425A>T (p.Asn1809Tyr) c.5401A>T (p.Asn1801Tyr) c.5356A>T (p.Asn1786Tyr) | |
3 | g.53801248A>C | CA353250700 | CACNA1D | c.5291A>C (p.Asn1764Thr) n.2230A>C n.666A>C c.5231A>C (p.Asn1744Thr) c.5186A>C (p.Asn1729Thr) c.1352A>C n.587A>C n.658A>C c.5258A>C (p.Asn1753Thr) c.4310A>C (p.Asn1437Thr) c.5486A>C (p.Asn1829Thr) c.5375A>C (p.Asn1792Thr) c.5297A>C (p.Asn1766Thr) c.4949A>C (p.Asn1650Thr) c.4574A>C (p.Asn1525Thr) c.5381A>C (p.Asn1794Thr) c.5483A>C (p.Asn1828Thr) c.5426A>C (p.Asn1809Thr) c.5402A>C (p.Asn1801Thr) c.5357A>C (p.Asn1786Thr) | |
3 | g.53801248A>G | CA353250702 | CACNA1D | c.5291A>G (p.Asn1764Ser) n.2230A>G n.666A>G c.5231A>G (p.Asn1744Ser) c.5186A>G (p.Asn1729Ser) c.1352A>G n.587A>G n.658A>G c.5258A>G (p.Asn1753Ser) c.4310A>G (p.Asn1437Ser) c.5486A>G (p.Asn1829Ser) c.5375A>G (p.Asn1792Ser) c.5297A>G (p.Asn1766Ser) c.4949A>G (p.Asn1650Ser) c.4574A>G (p.Asn1525Ser) c.5381A>G (p.Asn1794Ser) c.5483A>G (p.Asn1828Ser) c.5426A>G (p.Asn1809Ser) c.5402A>G (p.Asn1801Ser) c.5357A>G (p.Asn1786Ser) | |
3 | g.53801248A>T | CA353250704 | CACNA1D | c.5291A>T (p.Asn1764Ile) n.2230A>T n.666A>T c.5231A>T (p.Asn1744Ile) c.5186A>T (p.Asn1729Ile) c.1352A>T n.587A>T n.658A>T c.5258A>T (p.Asn1753Ile) c.4310A>T (p.Asn1437Ile) c.5486A>T (p.Asn1829Ile) c.5375A>T (p.Asn1792Ile) c.5297A>T (p.Asn1766Ile) c.4949A>T (p.Asn1650Ile) c.4574A>T (p.Asn1525Ile) c.5381A>T (p.Asn1794Ile) c.5483A>T (p.Asn1828Ile) c.5426A>T (p.Asn1809Ile) c.5402A>T (p.Asn1801Ile) c.5357A>T (p.Asn1786Ile) | |
3 | g.53801249T>A | CA353250708 | CACNA1D | c.5292T>A (p.Asn1764Lys) n.2231T>A n.667T>A c.5232T>A (p.Asn1744Lys) c.5187T>A (p.Asn1729Lys) c.1353T>A n.588T>A n.659T>A c.5259T>A (p.Asn1753Lys) c.4311T>A (p.Asn1437Lys) c.5487T>A (p.Asn1829Lys) c.5376T>A (p.Asn1792Lys) c.5298T>A (p.Asn1766Lys) c.4950T>A (p.Asn1650Lys) c.4575T>A (p.Asn1525Lys) c.5382T>A (p.Asn1794Lys) c.5484T>A (p.Asn1828Lys) c.5427T>A (p.Asn1809Lys) c.5403T>A (p.Asn1801Lys) c.5358T>A (p.Asn1786Lys) | |
3 | g.53801249T>C | CA433896117 | CACNA1D | c.5292T>C (p.Asn1764=) n.2231T>C n.667T>C c.5232T>C (p.Asn1744=) c.5187T>C (p.Asn1729=) c.1353T>C n.588T>C n.659T>C c.5259T>C (p.Asn1753=) c.4311T>C (p.Asn1437=) c.5487T>C (p.Asn1829=) c.5376T>C (p.Asn1792=) c.5298T>C (p.Asn1766=) c.4950T>C (p.Asn1650=) c.4575T>C (p.Asn1525=) c.5382T>C (p.Asn1794=) c.5484T>C (p.Asn1828=) c.5427T>C (p.Asn1809=) c.5403T>C (p.Asn1801=) c.5358T>C (p.Asn1786=) | |
3 | g.53801249T>G | CA353250706 | CACNA1D | c.5292T>G (p.Asn1764Lys) n.2231T>G n.667T>G c.5232T>G (p.Asn1744Lys) c.5187T>G (p.Asn1729Lys) c.1353T>G n.588T>G n.659T>G c.5259T>G (p.Asn1753Lys) c.4311T>G (p.Asn1437Lys) c.5487T>G (p.Asn1829Lys) c.5376T>G (p.Asn1792Lys) c.5298T>G (p.Asn1766Lys) c.4950T>G (p.Asn1650Lys) c.4575T>G (p.Asn1525Lys) c.5382T>G (p.Asn1794Lys) c.5484T>G (p.Asn1828Lys) c.5427T>G (p.Asn1809Lys) c.5403T>G (p.Asn1801Lys) c.5358T>G (p.Asn1786Lys) | |
3 | g.53801250T>A | CA353250710 | CACNA1D | c.5293T>A (p.Ser1765Thr) n.2232T>A n.668T>A c.5233T>A (p.Ser1745Thr) c.5188T>A (p.Ser1730Thr) c.1354T>A n.589T>A n.660T>A c.5260T>A (p.Ser1754Thr) c.4312T>A (p.Ser1438Thr) c.5488T>A (p.Ser1830Thr) c.5377T>A (p.Ser1793Thr) c.5299T>A (p.Ser1767Thr) c.4951T>A (p.Ser1651Thr) c.4576T>A (p.Ser1526Thr) c.5383T>A (p.Ser1795Thr) c.5485T>A (p.Ser1829Thr) c.5428T>A (p.Ser1810Thr) c.5404T>A (p.Ser1802Thr) c.5359T>A (p.Ser1787Thr) | |
3 | g.53801250T>C | CA353250712 | CACNA1D | c.5293T>C (p.Ser1765Pro) n.2232T>C n.668T>C c.5233T>C (p.Ser1745Pro) c.5188T>C (p.Ser1730Pro) c.1354T>C n.589T>C n.660T>C c.5260T>C (p.Ser1754Pro) c.4312T>C (p.Ser1438Pro) c.5488T>C (p.Ser1830Pro) c.5377T>C (p.Ser1793Pro) c.5299T>C (p.Ser1767Pro) c.4951T>C (p.Ser1651Pro) c.4576T>C (p.Ser1526Pro) c.5383T>C (p.Ser1795Pro) c.5485T>C (p.Ser1829Pro) c.5428T>C (p.Ser1810Pro) c.5404T>C (p.Ser1802Pro) c.5359T>C (p.Ser1787Pro) | |
3 | g.53801250T>G | CA353250714 | CACNA1D | c.5293T>G (p.Ser1765Ala) n.2232T>G n.668T>G c.5233T>G (p.Ser1745Ala) c.5188T>G (p.Ser1730Ala) c.1354T>G n.589T>G n.660T>G c.5260T>G (p.Ser1754Ala) c.4312T>G (p.Ser1438Ala) c.5488T>G (p.Ser1830Ala) c.5377T>G (p.Ser1793Ala) c.5299T>G (p.Ser1767Ala) c.4951T>G (p.Ser1651Ala) c.4576T>G (p.Ser1526Ala) c.5383T>G (p.Ser1795Ala) c.5485T>G (p.Ser1829Ala) c.5428T>G (p.Ser1810Ala) c.5404T>G (p.Ser1802Ala) c.5359T>G (p.Ser1787Ala) | |
3 | g.53801251C>A | CA353250716 | CACNA1D | c.5294C>A (p.Ser1765Tyr) n.2233C>A n.669C>A c.5234C>A (p.Ser1745Tyr) c.5189C>A (p.Ser1730Tyr) c.1355C>A n.590C>A n.661C>A c.5261C>A (p.Ser1754Tyr) c.4313C>A (p.Ser1438Tyr) c.5489C>A (p.Ser1830Tyr) c.5378C>A (p.Ser1793Tyr) c.5300C>A (p.Ser1767Tyr) c.4952C>A (p.Ser1651Tyr) c.4577C>A (p.Ser1526Tyr) c.5384C>A (p.Ser1795Tyr) c.5486C>A (p.Ser1829Tyr) c.5429C>A (p.Ser1810Tyr) c.5405C>A (p.Ser1802Tyr) c.5360C>A (p.Ser1787Tyr) | gnomAD v4 |
3 | g.53801251C>G | CA353250717 | CACNA1D | c.5294C>G (p.Ser1765Cys) n.2233C>G n.669C>G c.5234C>G (p.Ser1745Cys) c.5189C>G (p.Ser1730Cys) c.1355C>G n.590C>G n.661C>G c.5261C>G (p.Ser1754Cys) c.4313C>G (p.Ser1438Cys) c.5489C>G (p.Ser1830Cys) c.5378C>G (p.Ser1793Cys) c.5300C>G (p.Ser1767Cys) c.4952C>G (p.Ser1651Cys) c.4577C>G (p.Ser1526Cys) c.5384C>G (p.Ser1795Cys) c.5486C>G (p.Ser1829Cys) c.5429C>G (p.Ser1810Cys) c.5405C>G (p.Ser1802Cys) c.5360C>G (p.Ser1787Cys) | |
3 | g.53801251C>T | CA353250719 | CACNA1D | c.5294C>T (p.Ser1765Phe) n.2233C>T n.669C>T c.5234C>T (p.Ser1745Phe) c.5189C>T (p.Ser1730Phe) c.1355C>T n.590C>T n.661C>T c.5261C>T (p.Ser1754Phe) c.4313C>T (p.Ser1438Phe) c.5489C>T (p.Ser1830Phe) c.5378C>T (p.Ser1793Phe) c.5300C>T (p.Ser1767Phe) c.4952C>T (p.Ser1651Phe) c.4577C>T (p.Ser1526Phe) c.5384C>T (p.Ser1795Phe) c.5486C>T (p.Ser1829Phe) c.5429C>T (p.Ser1810Phe) c.5405C>T (p.Ser1802Phe) c.5360C>T (p.Ser1787Phe) | |
3 | g.53801252C>A | CA433896121 | CACNA1D | c.5295C>A (p.Ser1765=) n.2234C>A n.670C>A c.5235C>A (p.Ser1745=) c.5190C>A (p.Ser1730=) c.1356C>A n.591C>A n.662C>A c.5262C>A (p.Ser1754=) c.4314C>A (p.Ser1438=) c.5490C>A (p.Ser1830=) c.5379C>A (p.Ser1793=) c.5301C>A (p.Ser1767=) c.4953C>A (p.Ser1651=) c.4578C>A (p.Ser1526=) c.5385C>A (p.Ser1795=) c.5487C>A (p.Ser1829=) c.5430C>A (p.Ser1810=) c.5406C>A (p.Ser1802=) c.5361C>A (p.Ser1787=) | |
3 | g.53801252C= | CA1365484177 | CACNA1D | c.5295C= (p.Ser1765=) n.2234C= n.670C= c.5235C= (p.Ser1745=) c.5190C= (p.Ser1730=) c.1356C= n.591C= n.662C= c.5262C= (p.Ser1754=) c.4314C= (p.Ser1438=) c.5490C= (p.Ser1830=) c.5379C= (p.Ser1793=) c.5301C= (p.Ser1767=) c.4953C= (p.Ser1651=) c.4578C= (p.Ser1526=) c.5385C= (p.Ser1795=) c.5487C= (p.Ser1829=) c.5430C= (p.Ser1810=) c.5406C= (p.Ser1802=) c.5361C= (p.Ser1787=) | |
3 | g.53801252C>G | CA433896122 | CACNA1D | c.5295C>G (p.Ser1765=) n.2234C>G n.670C>G c.5235C>G (p.Ser1745=) c.5190C>G (p.Ser1730=) c.1356C>G n.591C>G n.662C>G c.5262C>G (p.Ser1754=) c.4314C>G (p.Ser1438=) c.5490C>G (p.Ser1830=) c.5379C>G (p.Ser1793=) c.5301C>G (p.Ser1767=) c.4953C>G (p.Ser1651=) c.4578C>G (p.Ser1526=) c.5385C>G (p.Ser1795=) c.5487C>G (p.Ser1829=) c.5430C>G (p.Ser1810=) c.5406C>G (p.Ser1802=) c.5361C>G (p.Ser1787=) | |
3 | g.53801252C>T | CA433896123 | CACNA1D | c.5295C>T (p.Ser1765=) n.2234C>T n.670C>T c.5235C>T (p.Ser1745=) c.5190C>T (p.Ser1730=) c.1356C>T n.591C>T n.662C>T c.5262C>T (p.Ser1754=) c.4314C>T (p.Ser1438=) c.5490C>T (p.Ser1830=) c.5379C>T (p.Ser1793=) c.5301C>T (p.Ser1767=) c.4953C>T (p.Ser1651=) c.4578C>T (p.Ser1526=) c.5385C>T (p.Ser1795=) c.5487C>T (p.Ser1829=) c.5430C>T (p.Ser1810=) c.5406C>T (p.Ser1802=) c.5361C>T (p.Ser1787=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.53801253A= | CA1365484178 | CACNA1D | c.5296A= (p.Ile1766=) n.2235A= n.671A= c.5236A= (p.Ile1746=) c.5191A= (p.Ile1731=) c.1357A= n.592A= n.663A= c.5263A= (p.Ile1755=) c.4315A= (p.Ile1439=) c.5491A= (p.Ile1831=) c.5380A= (p.Ile1794=) c.5302A= (p.Ile1768=) c.4954A= (p.Ile1652=) c.4579A= (p.Ile1527=) c.5386A= (p.Ile1796=) c.5488A= (p.Ile1830=) c.5431A= (p.Ile1811=) c.5407A= (p.Ile1803=) c.5362A= (p.Ile1788=) | |
3 | g.53801253A>C | CA353250721 | CACNA1D | c.5296A>C (p.Ile1766Leu) n.2235A>C n.671A>C c.5236A>C (p.Ile1746Leu) c.5191A>C (p.Ile1731Leu) c.1357A>C n.592A>C n.663A>C c.5263A>C (p.Ile1755Leu) c.4315A>C (p.Ile1439Leu) c.5491A>C (p.Ile1831Leu) c.5380A>C (p.Ile1794Leu) c.5302A>C (p.Ile1768Leu) c.4954A>C (p.Ile1652Leu) c.4579A>C (p.Ile1527Leu) c.5386A>C (p.Ile1796Leu) c.5488A>C (p.Ile1830Leu) c.5431A>C (p.Ile1811Leu) c.5407A>C (p.Ile1803Leu) c.5362A>C (p.Ile1788Leu) | |
3 | g.53801253A>G | CA2455089 | CACNA1D | c.5296A>G (p.Ile1766Val) n.2235A>G n.671A>G c.5236A>G (p.Ile1746Val) c.5191A>G (p.Ile1731Val) c.1357A>G n.592A>G n.663A>G c.5263A>G (p.Ile1755Val) c.4315A>G (p.Ile1439Val) c.5491A>G (p.Ile1831Val) c.5380A>G (p.Ile1794Val) c.5302A>G (p.Ile1768Val) c.4954A>G (p.Ile1652Val) c.4579A>G (p.Ile1527Val) c.5386A>G (p.Ile1796Val) c.5488A>G (p.Ile1830Val) c.5431A>G (p.Ile1811Val) c.5407A>G (p.Ile1803Val) c.5362A>G (p.Ile1788Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.53801253A>T | CA353250724 | CACNA1D | c.5296A>T (p.Ile1766Leu) n.2235A>T n.671A>T c.5236A>T (p.Ile1746Leu) c.5191A>T (p.Ile1731Leu) c.1357A>T n.592A>T n.663A>T c.5263A>T (p.Ile1755Leu) c.4315A>T (p.Ile1439Leu) c.5491A>T (p.Ile1831Leu) c.5380A>T (p.Ile1794Leu) c.5302A>T (p.Ile1768Leu) c.4954A>T (p.Ile1652Leu) c.4579A>T (p.Ile1527Leu) c.5386A>T (p.Ile1796Leu) c.5488A>T (p.Ile1830Leu) c.5431A>T (p.Ile1811Leu) c.5407A>T (p.Ile1803Leu) c.5362A>T (p.Ile1788Leu) | |
3 | g.53801254T>A | CA353250727 | CACNA1D | c.5297T>A (p.Ile1766Lys) n.2236T>A n.672T>A c.5237T>A (p.Ile1746Lys) c.5192T>A (p.Ile1731Lys) c.1358T>A n.593T>A n.664T>A c.5264T>A (p.Ile1755Lys) c.4316T>A (p.Ile1439Lys) c.5492T>A (p.Ile1831Lys) c.5381T>A (p.Ile1794Lys) c.5303T>A (p.Ile1768Lys) c.4955T>A (p.Ile1652Lys) c.4580T>A (p.Ile1527Lys) c.5387T>A (p.Ile1796Lys) c.5489T>A (p.Ile1830Lys) c.5432T>A (p.Ile1811Lys) c.5408T>A (p.Ile1803Lys) c.5363T>A (p.Ile1788Lys) | ClinVar |
3 | g.53801254T>C | CA353250729 | CACNA1D | c.5297T>C (p.Ile1766Thr) n.2236T>C n.672T>C c.5237T>C (p.Ile1746Thr) c.5192T>C (p.Ile1731Thr) c.1358T>C n.593T>C n.664T>C c.5264T>C (p.Ile1755Thr) c.4316T>C (p.Ile1439Thr) c.5492T>C (p.Ile1831Thr) c.5381T>C (p.Ile1794Thr) c.5303T>C (p.Ile1768Thr) c.4955T>C (p.Ile1652Thr) c.4580T>C (p.Ile1527Thr) c.5387T>C (p.Ile1796Thr) c.5489T>C (p.Ile1830Thr) c.5432T>C (p.Ile1811Thr) c.5408T>C (p.Ile1803Thr) c.5363T>C (p.Ile1788Thr) | dbSNP gnomAD v4 |
3 | g.53801254T>G | CA353250730 | CACNA1D | c.5297T>G (p.Ile1766Arg) n.2236T>G n.672T>G c.5237T>G (p.Ile1746Arg) c.5192T>G (p.Ile1731Arg) c.1358T>G n.593T>G n.664T>G c.5264T>G (p.Ile1755Arg) c.4316T>G (p.Ile1439Arg) c.5492T>G (p.Ile1831Arg) c.5381T>G (p.Ile1794Arg) c.5303T>G (p.Ile1768Arg) c.4955T>G (p.Ile1652Arg) c.4580T>G (p.Ile1527Arg) c.5387T>G (p.Ile1796Arg) c.5489T>G (p.Ile1830Arg) c.5432T>G (p.Ile1811Arg) c.5408T>G (p.Ile1803Arg) c.5363T>G (p.Ile1788Arg) | |
3 | g.53801254T= | CA1365484179 | CACNA1D | c.5297T= (p.Ile1766=) n.2236T= n.672T= c.5237T= (p.Ile1746=) c.5192T= (p.Ile1731=) c.1358T= n.593T= n.664T= c.5264T= (p.Ile1755=) c.4316T= (p.Ile1439=) c.5492T= (p.Ile1831=) c.5381T= (p.Ile1794=) c.5303T= (p.Ile1768=) c.4955T= (p.Ile1652=) c.4580T= (p.Ile1527=) c.5387T= (p.Ile1796=) c.5489T= (p.Ile1830=) c.5432T= (p.Ile1811=) c.5408T= (p.Ile1803=) c.5363T= (p.Ile1788=) | |
3 | g.53801255A>C | CA433896126 | CACNA1D | c.5298A>C (p.Ile1766=) n.2237A>C n.673A>C c.5238A>C (p.Ile1746=) c.5193A>C (p.Ile1731=) c.1359A>C n.594A>C n.665A>C c.5265A>C (p.Ile1755=) c.4317A>C (p.Ile1439=) c.5493A>C (p.Ile1831=) c.5382A>C (p.Ile1794=) c.5304A>C (p.Ile1768=) c.4956A>C (p.Ile1652=) c.4581A>C (p.Ile1527=) c.5388A>C (p.Ile1796=) c.5490A>C (p.Ile1830=) c.5433A>C (p.Ile1811=) c.5409A>C (p.Ile1803=) c.5364A>C (p.Ile1788=) | |
3 | g.53801255A>G | CA353250733 | CACNA1D | c.5298A>G (p.Ile1766Met) n.2237A>G n.673A>G c.5238A>G (p.Ile1746Met) c.5193A>G (p.Ile1731Met) c.1359A>G n.594A>G n.665A>G c.5265A>G (p.Ile1755Met) c.4317A>G (p.Ile1439Met) c.5493A>G (p.Ile1831Met) c.5382A>G (p.Ile1794Met) c.5304A>G (p.Ile1768Met) c.4956A>G (p.Ile1652Met) c.4581A>G (p.Ile1527Met) c.5388A>G (p.Ile1796Met) c.5490A>G (p.Ile1830Met) c.5433A>G (p.Ile1811Met) c.5409A>G (p.Ile1803Met) c.5364A>G (p.Ile1788Met) | |
3 | g.53801255A>T | CA433896129 | CACNA1D | c.5298A>T (p.Ile1766=) n.2237A>T n.673A>T c.5238A>T (p.Ile1746=) c.5193A>T (p.Ile1731=) c.1359A>T n.594A>T n.665A>T c.5265A>T (p.Ile1755=) c.4317A>T (p.Ile1439=) c.5493A>T (p.Ile1831=) c.5382A>T (p.Ile1794=) c.5304A>T (p.Ile1768=) c.4956A>T (p.Ile1652=) c.4581A>T (p.Ile1527=) c.5388A>T (p.Ile1796=) c.5490A>T (p.Ile1830=) c.5433A>T (p.Ile1811=) c.5409A>T (p.Ile1803=) c.5364A>T (p.Ile1788=) | |
3 | g.53801256G>A | CA353250739 | CACNA1D | c.5299G>A (p.Gly1767Arg) n.2238G>A n.674G>A c.5239G>A (p.Gly1747Arg) c.5194G>A (p.Gly1732Arg) c.1360G>A n.595G>A n.666G>A c.5266G>A (p.Gly1756Arg) c.4318G>A (p.Gly1440Arg) c.5494G>A (p.Gly1832Arg) c.5383G>A (p.Gly1795Arg) c.5305G>A (p.Gly1769Arg) c.4957G>A (p.Gly1653Arg) c.4582G>A (p.Gly1528Arg) c.5389G>A (p.Gly1797Arg) c.5491G>A (p.Gly1831Arg) c.5434G>A (p.Gly1812Arg) c.5410G>A (p.Gly1804Arg) c.5365G>A (p.Gly1789Arg) | |
3 | g.53801256G>C | CA353250736 | CACNA1D | c.5299G>C (p.Gly1767Arg) n.2238G>C n.674G>C c.5239G>C (p.Gly1747Arg) c.5194G>C (p.Gly1732Arg) c.1360G>C n.595G>C n.666G>C c.5266G>C (p.Gly1756Arg) c.4318G>C (p.Gly1440Arg) c.5494G>C (p.Gly1832Arg) c.5383G>C (p.Gly1795Arg) c.5305G>C (p.Gly1769Arg) c.4957G>C (p.Gly1653Arg) c.4582G>C (p.Gly1528Arg) c.5389G>C (p.Gly1797Arg) c.5491G>C (p.Gly1831Arg) c.5434G>C (p.Gly1812Arg) c.5410G>C (p.Gly1804Arg) c.5365G>C (p.Gly1789Arg) | |
3 | g.53801256G>T | CA353250734 | CACNA1D | c.5299G>T (p.Gly1767Ter) n.2238G>T n.674G>T c.5239G>T (p.Gly1747Ter) c.5194G>T (p.Gly1732Ter) c.1360G>T n.595G>T n.666G>T c.5266G>T (p.Gly1756Ter) c.4318G>T (p.Gly1440Ter) c.5494G>T (p.Gly1832Ter) c.5383G>T (p.Gly1795Ter) c.5305G>T (p.Gly1769Ter) c.4957G>T (p.Gly1653Ter) c.4582G>T (p.Gly1528Ter) c.5389G>T (p.Gly1797Ter) c.5491G>T (p.Gly1831Ter) c.5434G>T (p.Gly1812Ter) c.5410G>T (p.Gly1804Ter) c.5365G>T (p.Gly1789Ter) | |
3 | g.53801257G>A | CA353250741 | CACNA1D | c.5300G>A (p.Gly1767Glu) n.2239G>A n.675G>A c.5240G>A (p.Gly1747Glu) c.5195G>A (p.Gly1732Glu) c.1361G>A n.596G>A n.667G>A c.5267G>A (p.Gly1756Glu) c.4319G>A (p.Gly1440Glu) c.5495G>A (p.Gly1832Glu) c.5384G>A (p.Gly1795Glu) c.5306G>A (p.Gly1769Glu) c.4958G>A (p.Gly1653Glu) c.4583G>A (p.Gly1528Glu) c.5390G>A (p.Gly1797Glu) c.5492G>A (p.Gly1831Glu) c.5435G>A (p.Gly1812Glu) c.5411G>A (p.Gly1804Glu) c.5366G>A (p.Gly1789Glu) | |
3 | g.53801257G>C | CA353250743 | CACNA1D | c.5300G>C (p.Gly1767Ala) n.2239G>C n.675G>C c.5240G>C (p.Gly1747Ala) c.5195G>C (p.Gly1732Ala) c.1361G>C n.596G>C n.667G>C c.5267G>C (p.Gly1756Ala) c.4319G>C (p.Gly1440Ala) c.5495G>C (p.Gly1832Ala) c.5384G>C (p.Gly1795Ala) c.5306G>C (p.Gly1769Ala) c.4958G>C (p.Gly1653Ala) c.4583G>C (p.Gly1528Ala) c.5390G>C (p.Gly1797Ala) c.5492G>C (p.Gly1831Ala) c.5435G>C (p.Gly1812Ala) c.5411G>C (p.Gly1804Ala) c.5366G>C (p.Gly1789Ala) | |
3 | g.53801257G>T | CA353250745 | CACNA1D | c.5300G>T (p.Gly1767Val) n.2239G>T n.675G>T c.5240G>T (p.Gly1747Val) c.5195G>T (p.Gly1732Val) c.1361G>T n.596G>T n.667G>T c.5267G>T (p.Gly1756Val) c.4319G>T (p.Gly1440Val) c.5495G>T (p.Gly1832Val) c.5384G>T (p.Gly1795Val) c.5306G>T (p.Gly1769Val) c.4958G>T (p.Gly1653Val) c.4583G>T (p.Gly1528Val) c.5390G>T (p.Gly1797Val) c.5492G>T (p.Gly1831Val) c.5435G>T (p.Gly1812Val) c.5411G>T (p.Gly1804Val) c.5366G>T (p.Gly1789Val) | |
3 | g.53801258A>C | CA433896130 | CACNA1D | c.5301A>C (p.Gly1767=) n.2240A>C n.676A>C c.5241A>C (p.Gly1747=) c.5196A>C (p.Gly1732=) c.1362A>C n.597A>C n.668A>C c.5268A>C (p.Gly1756=) c.4320A>C (p.Gly1440=) c.5496A>C (p.Gly1832=) c.5385A>C (p.Gly1795=) c.5307A>C (p.Gly1769=) c.4959A>C (p.Gly1653=) c.4584A>C (p.Gly1528=) c.5391A>C (p.Gly1797=) c.5493A>C (p.Gly1831=) c.5436A>C (p.Gly1812=) c.5412A>C (p.Gly1804=) c.5367A>C (p.Gly1789=) | |
3 | g.53801258A>G | CA433896131 | CACNA1D | c.5301A>G (p.Gly1767=) n.2240A>G n.676A>G c.5241A>G (p.Gly1747=) c.5196A>G (p.Gly1732=) c.1362A>G n.597A>G n.668A>G c.5268A>G (p.Gly1756=) c.4320A>G (p.Gly1440=) c.5496A>G (p.Gly1832=) c.5385A>G (p.Gly1795=) c.5307A>G (p.Gly1769=) c.4959A>G (p.Gly1653=) c.4584A>G (p.Gly1528=) c.5391A>G (p.Gly1797=) c.5493A>G (p.Gly1831=) c.5436A>G (p.Gly1812=) c.5412A>G (p.Gly1804=) c.5367A>G (p.Gly1789=) | COSMIC COSMIC |
3 | g.53801258A>T | CA433896132 | CACNA1D | c.5301A>T (p.Gly1767=) n.2240A>T n.676A>T c.5241A>T (p.Gly1747=) c.5196A>T (p.Gly1732=) c.1362A>T n.597A>T n.668A>T c.5268A>T (p.Gly1756=) c.4320A>T (p.Gly1440=) c.5496A>T (p.Gly1832=) c.5385A>T (p.Gly1795=) c.5307A>T (p.Gly1769=) c.4959A>T (p.Gly1653=) c.4584A>T (p.Gly1528=) c.5391A>T (p.Gly1797=) c.5493A>T (p.Gly1831=) c.5436A>T (p.Gly1812=) c.5412A>T (p.Gly1804=) c.5367A>T (p.Gly1789=) | |
3 | g.53801259A>C | CA353250748 | CACNA1D | c.5302A>C (p.Lys1768Gln) n.2241A>C n.677A>C c.5242A>C (p.Lys1748Gln) c.5197A>C (p.Lys1733Gln) c.1363A>C n.598A>C n.669A>C c.5269A>C (p.Lys1757Gln) c.4321A>C (p.Lys1441Gln) c.5497A>C (p.Lys1833Gln) c.5386A>C (p.Lys1796Gln) c.5308A>C (p.Lys1770Gln) c.4960A>C (p.Lys1654Gln) c.4585A>C (p.Lys1529Gln) c.5392A>C (p.Lys1798Gln) c.5494A>C (p.Lys1832Gln) c.5437A>C (p.Lys1813Gln) c.5413A>C (p.Lys1805Gln) c.5368A>C (p.Lys1790Gln) | |
3 | g.53801259A>G | CA353250750 | CACNA1D | c.5302A>G (p.Lys1768Glu) n.2241A>G n.677A>G c.5242A>G (p.Lys1748Glu) c.5197A>G (p.Lys1733Glu) c.1363A>G n.598A>G n.669A>G c.5269A>G (p.Lys1757Glu) c.4321A>G (p.Lys1441Glu) c.5497A>G (p.Lys1833Glu) c.5386A>G (p.Lys1796Glu) c.5308A>G (p.Lys1770Glu) c.4960A>G (p.Lys1654Glu) c.4585A>G (p.Lys1529Glu) c.5392A>G (p.Lys1798Glu) c.5494A>G (p.Lys1832Glu) c.5437A>G (p.Lys1813Glu) c.5413A>G (p.Lys1805Glu) c.5368A>G (p.Lys1790Glu) | |
3 | g.53801259A>T | CA353250751 | CACNA1D | c.5302A>T (p.Lys1768Ter) n.2241A>T n.677A>T c.5242A>T (p.Lys1748Ter) c.5197A>T (p.Lys1733Ter) c.1363A>T n.598A>T n.669A>T c.5269A>T (p.Lys1757Ter) c.4321A>T (p.Lys1441Ter) c.5497A>T (p.Lys1833Ter) c.5386A>T (p.Lys1796Ter) c.5308A>T (p.Lys1770Ter) c.4960A>T (p.Lys1654Ter) c.4585A>T (p.Lys1529Ter) c.5392A>T (p.Lys1798Ter) c.5494A>T (p.Lys1832Ter) c.5437A>T (p.Lys1813Ter) c.5413A>T (p.Lys1805Ter) c.5368A>T (p.Lys1790Ter) | |
3 | g.53801260A>C | CA353250754 | CACNA1D | c.5303A>C (p.Lys1768Thr) n.2242A>C n.678A>C c.5243A>C (p.Lys1748Thr) c.5198A>C (p.Lys1733Thr) c.1364A>C n.599A>C n.670A>C c.5270A>C (p.Lys1757Thr) c.4322A>C (p.Lys1441Thr) c.5498A>C (p.Lys1833Thr) c.5387A>C (p.Lys1796Thr) c.5309A>C (p.Lys1770Thr) c.4961A>C (p.Lys1654Thr) c.4586A>C (p.Lys1529Thr) c.5393A>C (p.Lys1798Thr) c.5495A>C (p.Lys1832Thr) c.5438A>C (p.Lys1813Thr) c.5414A>C (p.Lys1805Thr) c.5369A>C (p.Lys1790Thr) | |
3 | g.53801260A>G | CA353250756 | CACNA1D | c.5303A>G (p.Lys1768Arg) n.2242A>G n.678A>G c.5243A>G (p.Lys1748Arg) c.5198A>G (p.Lys1733Arg) c.1364A>G n.599A>G n.670A>G c.5270A>G (p.Lys1757Arg) c.4322A>G (p.Lys1441Arg) c.5498A>G (p.Lys1833Arg) c.5387A>G (p.Lys1796Arg) c.5309A>G (p.Lys1770Arg) c.4961A>G (p.Lys1654Arg) c.4586A>G (p.Lys1529Arg) c.5393A>G (p.Lys1798Arg) c.5495A>G (p.Lys1832Arg) c.5438A>G (p.Lys1813Arg) c.5414A>G (p.Lys1805Arg) c.5369A>G (p.Lys1790Arg) | |
3 | g.53801260A>T | CA353250757 | CACNA1D | c.5303A>T (p.Lys1768Met) n.2242A>T n.678A>T c.5243A>T (p.Lys1748Met) c.5198A>T (p.Lys1733Met) c.1364A>T n.599A>T n.670A>T c.5270A>T (p.Lys1757Met) c.4322A>T (p.Lys1441Met) c.5498A>T (p.Lys1833Met) c.5387A>T (p.Lys1796Met) c.5309A>T (p.Lys1770Met) c.4961A>T (p.Lys1654Met) c.4586A>T (p.Lys1529Met) c.5393A>T (p.Lys1798Met) c.5495A>T (p.Lys1832Met) c.5438A>T (p.Lys1813Met) c.5414A>T (p.Lys1805Met) c.5369A>T (p.Lys1790Met) | |
3 | g.53801261G>A | CA433896136 | CACNA1D | c.5304G>A (p.Lys1768=) n.2243G>A n.679G>A c.5244G>A (p.Lys1748=) c.5199G>A (p.Lys1733=) c.1365G>A n.600G>A n.671G>A c.5271G>A (p.Lys1757=) c.4323G>A (p.Lys1441=) c.5499G>A (p.Lys1833=) c.5388G>A (p.Lys1796=) c.5310G>A (p.Lys1770=) c.4962G>A (p.Lys1654=) c.4587G>A (p.Lys1529=) c.5394G>A (p.Lys1798=) c.5496G>A (p.Lys1832=) c.5439G>A (p.Lys1813=) c.5415G>A (p.Lys1805=) c.5370G>A (p.Lys1790=) | |
3 | g.53801261G>C | CA353250760 | CACNA1D | c.5304G>C (p.Lys1768Asn) n.2243G>C n.679G>C c.5244G>C (p.Lys1748Asn) c.5199G>C (p.Lys1733Asn) c.1365G>C n.600G>C n.671G>C c.5271G>C (p.Lys1757Asn) c.4323G>C (p.Lys1441Asn) c.5499G>C (p.Lys1833Asn) c.5388G>C (p.Lys1796Asn) c.5310G>C (p.Lys1770Asn) c.4962G>C (p.Lys1654Asn) c.4587G>C (p.Lys1529Asn) c.5394G>C (p.Lys1798Asn) c.5496G>C (p.Lys1832Asn) c.5439G>C (p.Lys1813Asn) c.5415G>C (p.Lys1805Asn) c.5370G>C (p.Lys1790Asn) | |
3 | g.53801261G>T | CA353250762 | CACNA1D | c.5304G>T (p.Lys1768Asn) n.2243G>T n.679G>T c.5244G>T (p.Lys1748Asn) c.5199G>T (p.Lys1733Asn) c.1365G>T n.600G>T n.671G>T c.5271G>T (p.Lys1757Asn) c.4323G>T (p.Lys1441Asn) c.5499G>T (p.Lys1833Asn) c.5388G>T (p.Lys1796Asn) c.5310G>T (p.Lys1770Asn) c.4962G>T (p.Lys1654Asn) c.4587G>T (p.Lys1529Asn) c.5394G>T (p.Lys1798Asn) c.5496G>T (p.Lys1832Asn) c.5439G>T (p.Lys1813Asn) c.5415G>T (p.Lys1805Asn) c.5370G>T (p.Lys1790Asn) | |
3 | g.53801262C>A | CA353250764 | CACNA1D | c.5305C>A (p.Gln1769Lys) n.2244C>A n.680C>A c.5245C>A (p.Gln1749Lys) c.5200C>A (p.Gln1734Lys) c.1366C>A n.601C>A n.672C>A c.5272C>A (p.Gln1758Lys) c.4324C>A (p.Gln1442Lys) c.5500C>A (p.Gln1834Lys) c.5389C>A (p.Gln1797Lys) c.5311C>A (p.Gln1771Lys) c.4963C>A (p.Gln1655Lys) c.4588C>A (p.Gln1530Lys) c.5395C>A (p.Gln1799Lys) c.5497C>A (p.Gln1833Lys) c.5440C>A (p.Gln1814Lys) c.5416C>A (p.Gln1806Lys) c.5371C>A (p.Gln1791Lys) | |
3 | g.53801262C>G | CA353250766 | CACNA1D | c.5305C>G (p.Gln1769Glu) n.2244C>G n.680C>G c.5245C>G (p.Gln1749Glu) c.5200C>G (p.Gln1734Glu) c.1366C>G n.601C>G n.672C>G c.5272C>G (p.Gln1758Glu) c.4324C>G (p.Gln1442Glu) c.5500C>G (p.Gln1834Glu) c.5389C>G (p.Gln1797Glu) c.5311C>G (p.Gln1771Glu) c.4963C>G (p.Gln1655Glu) c.4588C>G (p.Gln1530Glu) c.5395C>G (p.Gln1799Glu) c.5497C>G (p.Gln1833Glu) c.5440C>G (p.Gln1814Glu) c.5416C>G (p.Gln1806Glu) c.5371C>G (p.Gln1791Glu) | |
3 | g.53801262C>T | CA353250767 | CACNA1D | c.5305C>T (p.Gln1769Ter) n.2244C>T n.680C>T c.5245C>T (p.Gln1749Ter) c.5200C>T (p.Gln1734Ter) c.1366C>T n.601C>T n.672C>T c.5272C>T (p.Gln1758Ter) c.4324C>T (p.Gln1442Ter) c.5500C>T (p.Gln1834Ter) c.5389C>T (p.Gln1797Ter) c.5311C>T (p.Gln1771Ter) c.4963C>T (p.Gln1655Ter) c.4588C>T (p.Gln1530Ter) c.5395C>T (p.Gln1799Ter) c.5497C>T (p.Gln1833Ter) c.5440C>T (p.Gln1814Ter) c.5416C>T (p.Gln1806Ter) c.5371C>T (p.Gln1791Ter) | |
3 | g.53801263A>C | CA353250773 | CACNA1D | c.5306A>C (p.Gln1769Pro) n.2245A>C n.681A>C c.5246A>C (p.Gln1749Pro) c.5201A>C (p.Gln1734Pro) c.1367A>C n.602A>C n.673A>C c.5273A>C (p.Gln1758Pro) c.4325A>C (p.Gln1442Pro) c.5501A>C (p.Gln1834Pro) c.5390A>C (p.Gln1797Pro) c.5312A>C (p.Gln1771Pro) c.4964A>C (p.Gln1655Pro) c.4589A>C (p.Gln1530Pro) c.5396A>C (p.Gln1799Pro) c.5498A>C (p.Gln1833Pro) c.5441A>C (p.Gln1814Pro) c.5417A>C (p.Gln1806Pro) c.5372A>C (p.Gln1791Pro) | |
3 | g.53801263A>G | CA353250771 | CACNA1D | c.5306A>G (p.Gln1769Arg) n.2245A>G n.681A>G c.5246A>G (p.Gln1749Arg) c.5201A>G (p.Gln1734Arg) c.1367A>G n.602A>G n.673A>G c.5273A>G (p.Gln1758Arg) c.4325A>G (p.Gln1442Arg) c.5501A>G (p.Gln1834Arg) c.5390A>G (p.Gln1797Arg) c.5312A>G (p.Gln1771Arg) c.4964A>G (p.Gln1655Arg) c.4589A>G (p.Gln1530Arg) c.5396A>G (p.Gln1799Arg) c.5498A>G (p.Gln1833Arg) c.5441A>G (p.Gln1814Arg) c.5417A>G (p.Gln1806Arg) c.5372A>G (p.Gln1791Arg) | |
3 | g.53801263A>T | CA353250769 | CACNA1D | c.5306A>T (p.Gln1769Leu) n.2245A>T n.681A>T c.5246A>T (p.Gln1749Leu) c.5201A>T (p.Gln1734Leu) c.1367A>T n.602A>T n.673A>T c.5273A>T (p.Gln1758Leu) c.4325A>T (p.Gln1442Leu) c.5501A>T (p.Gln1834Leu) c.5390A>T (p.Gln1797Leu) c.5312A>T (p.Gln1771Leu) c.4964A>T (p.Gln1655Leu) c.4589A>T (p.Gln1530Leu) c.5396A>T (p.Gln1799Leu) c.5498A>T (p.Gln1833Leu) c.5441A>T (p.Gln1814Leu) c.5417A>T (p.Gln1806Leu) c.5372A>T (p.Gln1791Leu) | |
3 | g.53801264A= | CA1365484180 | CACNA1D | c.5307A= (p.Gln1769=) n.2246A= n.682A= c.5247A= (p.Gln1749=) c.5202A= (p.Gln1734=) c.1368A= n.603A= n.674A= c.5274A= (p.Gln1758=) n.1A= c.4326A= (p.Gln1442=) c.5502A= (p.Gln1834=) c.5391A= (p.Gln1797=) c.5313A= (p.Gln1771=) c.4965A= (p.Gln1655=) c.4590A= (p.Gln1530=) c.5397A= (p.Gln1799=) c.5499A= (p.Gln1833=) c.5442A= (p.Gln1814=) c.5418A= (p.Gln1806=) c.5373A= (p.Gln1791=) | |
3 | g.53801264A>C | CA353250775 | CACNA1D | c.5307A>C (p.Gln1769His) n.2246A>C n.682A>C c.5247A>C (p.Gln1749His) c.5202A>C (p.Gln1734His) c.1368A>C n.603A>C n.674A>C c.5274A>C (p.Gln1758His) n.1A>C c.4326A>C (p.Gln1442His) c.5502A>C (p.Gln1834His) c.5391A>C (p.Gln1797His) c.5313A>C (p.Gln1771His) c.4965A>C (p.Gln1655His) c.4590A>C (p.Gln1530His) c.5397A>C (p.Gln1799His) c.5499A>C (p.Gln1833His) c.5442A>C (p.Gln1814His) c.5418A>C (p.Gln1806His) c.5373A>C (p.Gln1791His) | |
3 | g.53801264A>G | CA433896137 | CACNA1D | c.5307A>G (p.Gln1769=) n.2246A>G n.682A>G c.5247A>G (p.Gln1749=) c.5202A>G (p.Gln1734=) c.1368A>G n.603A>G n.674A>G c.5274A>G (p.Gln1758=) n.1A>G c.4326A>G (p.Gln1442=) c.5502A>G (p.Gln1834=) c.5391A>G (p.Gln1797=) c.5313A>G (p.Gln1771=) c.4965A>G (p.Gln1655=) c.4590A>G (p.Gln1530=) c.5397A>G (p.Gln1799=) c.5499A>G (p.Gln1833=) c.5442A>G (p.Gln1814=) c.5418A>G (p.Gln1806=) c.5373A>G (p.Gln1791=) | |
3 | g.53801264A>T | CA353250777 | CACNA1D | c.5307A>T (p.Gln1769His) n.2246A>T n.682A>T c.5247A>T (p.Gln1749His) c.5202A>T (p.Gln1734His) c.1368A>T n.603A>T n.674A>T c.5274A>T (p.Gln1758His) n.1A>T c.4326A>T (p.Gln1442His) c.5502A>T (p.Gln1834His) c.5391A>T (p.Gln1797His) c.5313A>T (p.Gln1771His) c.4965A>T (p.Gln1655His) c.4590A>T (p.Gln1530His) c.5397A>T (p.Gln1799His) c.5499A>T (p.Gln1833His) c.5442A>T (p.Gln1814His) c.5418A>T (p.Gln1806His) c.5373A>T (p.Gln1791His) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.53801265G>A | CA353250779 | CACNA1D | c.5308G>A (p.Val1770Ile) n.2247G>A n.683G>A c.5248G>A (p.Val1750Ile) c.5203G>A (p.Val1735Ile) c.1369G>A n.604G>A n.675G>A c.5275G>A (p.Val1759Ile) n.2G>A c.4327G>A (p.Val1443Ile) c.5503G>A (p.Val1835Ile) c.5392G>A (p.Val1798Ile) c.5314G>A (p.Val1772Ile) c.4966G>A (p.Val1656Ile) c.4591G>A (p.Val1531Ile) c.5398G>A (p.Val1800Ile) c.5500G>A (p.Val1834Ile) c.5443G>A (p.Val1815Ile) c.5419G>A (p.Val1807Ile) c.5374G>A (p.Val1792Ile) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.53801265G>C | CA353250781 | CACNA1D | c.5308G>C (p.Val1770Leu) n.2247G>C n.683G>C c.5248G>C (p.Val1750Leu) c.5203G>C (p.Val1735Leu) c.1369G>C n.604G>C n.675G>C c.5275G>C (p.Val1759Leu) n.2G>C c.4327G>C (p.Val1443Leu) c.5503G>C (p.Val1835Leu) c.5392G>C (p.Val1798Leu) c.5314G>C (p.Val1772Leu) c.4966G>C (p.Val1656Leu) c.4591G>C (p.Val1531Leu) c.5398G>C (p.Val1800Leu) c.5500G>C (p.Val1834Leu) c.5443G>C (p.Val1815Leu) c.5419G>C (p.Val1807Leu) c.5374G>C (p.Val1792Leu) | |
3 | g.53801265G= | CA1365484181 | CACNA1D | c.5308G= (p.Val1770=) n.2247G= n.683G= c.5248G= (p.Val1750=) c.5203G= (p.Val1735=) c.1369G= n.604G= n.675G= c.5275G= (p.Val1759=) n.2G= c.4327G= (p.Val1443=) c.5503G= (p.Val1835=) c.5392G= (p.Val1798=) c.5314G= (p.Val1772=) c.4966G= (p.Val1656=) c.4591G= (p.Val1531=) c.5398G= (p.Val1800=) c.5500G= (p.Val1834=) c.5443G= (p.Val1815=) c.5419G= (p.Val1807=) c.5374G= (p.Val1792=) | |
3 | g.53801265G>T | CA74859874 | CACNA1D | c.5308G>T (p.Val1770Phe) n.2247G>T n.683G>T c.5248G>T (p.Val1750Phe) c.5203G>T (p.Val1735Phe) c.1369G>T n.604G>T n.675G>T c.5275G>T (p.Val1759Phe) n.2G>T c.4327G>T (p.Val1443Phe) c.5503G>T (p.Val1835Phe) c.5392G>T (p.Val1798Phe) c.5314G>T (p.Val1772Phe) c.4966G>T (p.Val1656Phe) c.4591G>T (p.Val1531Phe) c.5398G>T (p.Val1800Phe) c.5500G>T (p.Val1834Phe) c.5443G>T (p.Val1815Phe) c.5419G>T (p.Val1807Phe) c.5374G>T (p.Val1792Phe) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.53801266T>A | CA353250789 | CACNA1D | c.5309T>A (p.Val1770Asp) n.2248T>A n.684T>A c.5249T>A (p.Val1750Asp) c.5204T>A (p.Val1735Asp) c.1370T>A n.605T>A n.676T>A c.5276T>A (p.Val1759Asp) n.3T>A c.4328T>A (p.Val1443Asp) c.5504T>A (p.Val1835Asp) c.5393T>A (p.Val1798Asp) c.5315T>A (p.Val1772Asp) c.4967T>A (p.Val1656Asp) c.4592T>A (p.Val1531Asp) c.5399T>A (p.Val1800Asp) c.5501T>A (p.Val1834Asp) c.5444T>A (p.Val1815Asp) c.5420T>A (p.Val1807Asp) c.5375T>A (p.Val1792Asp) | |
3 | g.53801266T>C | CA353250787 | CACNA1D | c.5309T>C (p.Val1770Ala) n.2248T>C n.684T>C c.5249T>C (p.Val1750Ala) c.5204T>C (p.Val1735Ala) c.1370T>C n.605T>C n.676T>C c.5276T>C (p.Val1759Ala) n.3T>C c.4328T>C (p.Val1443Ala) c.5504T>C (p.Val1835Ala) c.5393T>C (p.Val1798Ala) c.5315T>C (p.Val1772Ala) c.4967T>C (p.Val1656Ala) c.4592T>C (p.Val1531Ala) c.5399T>C (p.Val1800Ala) c.5501T>C (p.Val1834Ala) c.5444T>C (p.Val1815Ala) c.5420T>C (p.Val1807Ala) c.5375T>C (p.Val1792Ala) | |
3 | g.53801266T>G | CA353250785 | CACNA1D | c.5309T>G (p.Val1770Gly) n.2248T>G n.684T>G c.5249T>G (p.Val1750Gly) c.5204T>G (p.Val1735Gly) c.1370T>G n.605T>G n.676T>G c.5276T>G (p.Val1759Gly) n.3T>G c.4328T>G (p.Val1443Gly) c.5504T>G (p.Val1835Gly) c.5393T>G (p.Val1798Gly) c.5315T>G (p.Val1772Gly) c.4967T>G (p.Val1656Gly) c.4592T>G (p.Val1531Gly) c.5399T>G (p.Val1800Gly) c.5501T>G (p.Val1834Gly) c.5444T>G (p.Val1815Gly) c.5420T>G (p.Val1807Gly) c.5375T>G (p.Val1792Gly) | |
3 | g.53801267T>A | CA433896139 | CACNA1D | c.5310T>A (p.Val1770=) n.2249T>A n.685T>A c.5250T>A (p.Val1750=) c.5205T>A (p.Val1735=) c.1371T>A n.606T>A n.677T>A c.5277T>A (p.Val1759=) n.4T>A c.4329T>A (p.Val1443=) c.5505T>A (p.Val1835=) c.5394T>A (p.Val1798=) c.5316T>A (p.Val1772=) c.4968T>A (p.Val1656=) c.4593T>A (p.Val1531=) c.5400T>A (p.Val1800=) c.5502T>A (p.Val1834=) c.5445T>A (p.Val1815=) c.5421T>A (p.Val1807=) c.5376T>A (p.Val1792=) | |
3 | g.53801267T>C | CA433896140 | CACNA1D | c.5310T>C (p.Val1770=) n.2249T>C n.685T>C c.5250T>C (p.Val1750=) c.5205T>C (p.Val1735=) c.1371T>C n.606T>C n.677T>C c.5277T>C (p.Val1759=) n.4T>C c.4329T>C (p.Val1443=) c.5505T>C (p.Val1835=) c.5394T>C (p.Val1798=) c.5316T>C (p.Val1772=) c.4968T>C (p.Val1656=) c.4593T>C (p.Val1531=) c.5400T>C (p.Val1800=) c.5502T>C (p.Val1834=) c.5445T>C (p.Val1815=) c.5421T>C (p.Val1807=) c.5376T>C (p.Val1792=) | |
3 | g.53801267T>G | CA433896141 | CACNA1D | c.5310T>G (p.Val1770=) n.2249T>G n.685T>G c.5250T>G (p.Val1750=) c.5205T>G (p.Val1735=) c.1371T>G n.606T>G n.677T>G c.5277T>G (p.Val1759=) n.4T>G c.4329T>G (p.Val1443=) c.5505T>G (p.Val1835=) c.5394T>G (p.Val1798=) c.5316T>G (p.Val1772=) c.4968T>G (p.Val1656=) c.4593T>G (p.Val1531=) c.5400T>G (p.Val1800=) c.5502T>G (p.Val1834=) c.5445T>G (p.Val1815=) c.5421T>G (p.Val1807=) c.5376T>G (p.Val1792=) | |
3 | g.53801268C>A | CA353250792 | CACNA1D | c.5311C>A (p.Pro1771Thr) n.2250C>A n.686C>A c.5251C>A (p.Pro1751Thr) c.5206C>A (p.Pro1736Thr) c.1372C>A n.607C>A n.678C>A c.5278C>A (p.Pro1760Thr) n.5C>A c.4330C>A (p.Pro1444Thr) c.5506C>A (p.Pro1836Thr) c.5395C>A (p.Pro1799Thr) c.5317C>A (p.Pro1773Thr) c.4969C>A (p.Pro1657Thr) c.4594C>A (p.Pro1532Thr) c.5401C>A (p.Pro1801Thr) c.5503C>A (p.Pro1835Thr) c.5446C>A (p.Pro1816Thr) c.5422C>A (p.Pro1808Thr) c.5377C>A (p.Pro1793Thr) | gnomAD v4 |
3 | g.53801268C>G | CA353250793 | CACNA1D | c.5311C>G (p.Pro1771Ala) n.2250C>G n.686C>G c.5251C>G (p.Pro1751Ala) c.5206C>G (p.Pro1736Ala) c.1372C>G n.607C>G n.678C>G c.5278C>G (p.Pro1760Ala) n.5C>G c.4330C>G (p.Pro1444Ala) c.5506C>G (p.Pro1836Ala) c.5395C>G (p.Pro1799Ala) c.5317C>G (p.Pro1773Ala) c.4969C>G (p.Pro1657Ala) c.4594C>G (p.Pro1532Ala) c.5401C>G (p.Pro1801Ala) c.5503C>G (p.Pro1835Ala) c.5446C>G (p.Pro1816Ala) c.5422C>G (p.Pro1808Ala) c.5377C>G (p.Pro1793Ala) | |
3 | g.53801268C>T | CA353250796 | CACNA1D | c.5311C>T (p.Pro1771Ser) n.2250C>T n.686C>T c.5251C>T (p.Pro1751Ser) c.5206C>T (p.Pro1736Ser) c.1372C>T n.607C>T n.678C>T c.5278C>T (p.Pro1760Ser) n.5C>T c.4330C>T (p.Pro1444Ser) c.5506C>T (p.Pro1836Ser) c.5395C>T (p.Pro1799Ser) c.5317C>T (p.Pro1773Ser) c.4969C>T (p.Pro1657Ser) c.4594C>T (p.Pro1532Ser) c.5401C>T (p.Pro1801Ser) c.5503C>T (p.Pro1835Ser) c.5446C>T (p.Pro1816Ser) c.5422C>T (p.Pro1808Ser) c.5377C>T (p.Pro1793Ser) | COSMIC COSMIC |
3 | g.53801269C>A | CA353250798 | CACNA1D | c.5312C>A (p.Pro1771His) n.2251C>A n.687C>A c.5252C>A (p.Pro1751His) c.5207C>A (p.Pro1736His) c.1373C>A n.608C>A n.679C>A c.5279C>A (p.Pro1760His) n.6C>A c.4331C>A (p.Pro1444His) c.5507C>A (p.Pro1836His) c.5396C>A (p.Pro1799His) c.5318C>A (p.Pro1773His) c.4970C>A (p.Pro1657His) c.4595C>A (p.Pro1532His) c.5402C>A (p.Pro1801His) c.5504C>A (p.Pro1835His) c.5447C>A (p.Pro1816His) c.5423C>A (p.Pro1808His) c.5378C>A (p.Pro1793His) | |
3 | g.53801269C>G | CA353250800 | CACNA1D | c.5312C>G (p.Pro1771Arg) n.2251C>G n.687C>G c.5252C>G (p.Pro1751Arg) c.5207C>G (p.Pro1736Arg) c.1373C>G n.608C>G n.679C>G c.5279C>G (p.Pro1760Arg) n.6C>G c.4331C>G (p.Pro1444Arg) c.5507C>G (p.Pro1836Arg) c.5396C>G (p.Pro1799Arg) c.5318C>G (p.Pro1773Arg) c.4970C>G (p.Pro1657Arg) c.4595C>G (p.Pro1532Arg) c.5402C>G (p.Pro1801Arg) c.5504C>G (p.Pro1835Arg) c.5447C>G (p.Pro1816Arg) c.5423C>G (p.Pro1808Arg) c.5378C>G (p.Pro1793Arg) | |
3 | g.53801269C>T | CA353250802 | CACNA1D | c.5312C>T (p.Pro1771Leu) n.2251C>T n.687C>T c.5252C>T (p.Pro1751Leu) c.5207C>T (p.Pro1736Leu) c.1373C>T n.608C>T n.679C>T c.5279C>T (p.Pro1760Leu) n.6C>T c.4331C>T (p.Pro1444Leu) c.5507C>T (p.Pro1836Leu) c.5396C>T (p.Pro1799Leu) c.5318C>T (p.Pro1773Leu) c.4970C>T (p.Pro1657Leu) c.4595C>T (p.Pro1532Leu) c.5402C>T (p.Pro1801Leu) c.5504C>T (p.Pro1835Leu) c.5447C>T (p.Pro1816Leu) c.5423C>T (p.Pro1808Leu) c.5378C>T (p.Pro1793Leu) | |
3 | g.53801270C>A | CA433896144 | CACNA1D | c.5313C>A (p.Pro1771=) n.2252C>A n.688C>A c.5253C>A (p.Pro1751=) c.5208C>A (p.Pro1736=) c.1374C>A n.609C>A n.680C>A c.5280C>A (p.Pro1760=) n.7C>A c.4332C>A (p.Pro1444=) c.5508C>A (p.Pro1836=) c.5397C>A (p.Pro1799=) c.5319C>A (p.Pro1773=) c.4971C>A (p.Pro1657=) c.4596C>A (p.Pro1532=) c.5403C>A (p.Pro1801=) c.5505C>A (p.Pro1835=) c.5448C>A (p.Pro1816=) c.5424C>A (p.Pro1808=) c.5379C>A (p.Pro1793=) | |
3 | g.53801270C>G | CA433896145 | CACNA1D | c.5313C>G (p.Pro1771=) n.2252C>G n.688C>G c.5253C>G (p.Pro1751=) c.5208C>G (p.Pro1736=) c.1374C>G n.609C>G n.680C>G c.5280C>G (p.Pro1760=) n.7C>G c.4332C>G (p.Pro1444=) c.5508C>G (p.Pro1836=) c.5397C>G (p.Pro1799=) c.5319C>G (p.Pro1773=) c.4971C>G (p.Pro1657=) c.4596C>G (p.Pro1532=) c.5403C>G (p.Pro1801=) c.5505C>G (p.Pro1835=) c.5448C>G (p.Pro1816=) c.5424C>G (p.Pro1808=) c.5379C>G (p.Pro1793=) | |
3 | g.53801270C>T | CA433896146 | CACNA1D | c.5313C>T (p.Pro1771=) n.2252C>T n.688C>T c.5253C>T (p.Pro1751=) c.5208C>T (p.Pro1736=) c.1374C>T n.609C>T n.680C>T c.5280C>T (p.Pro1760=) n.7C>T c.4332C>T (p.Pro1444=) c.5508C>T (p.Pro1836=) c.5397C>T (p.Pro1799=) c.5319C>T (p.Pro1773=) c.4971C>T (p.Pro1657=) c.4596C>T (p.Pro1532=) c.5403C>T (p.Pro1801=) c.5505C>T (p.Pro1835=) c.5448C>T (p.Pro1816=) c.5424C>T (p.Pro1808=) c.5379C>T (p.Pro1793=) | |
3 | g.53801271A>C | CA353250809 | CACNA1D | c.5314A>C (p.Thr1772Pro) n.2253A>C n.689A>C c.5254A>C (p.Thr1752Pro) c.5209A>C (p.Thr1737Pro) c.1375A>C n.610A>C n.681A>C c.5281A>C (p.Thr1761Pro) n.8A>C c.4333A>C (p.Thr1445Pro) c.5509A>C (p.Thr1837Pro) c.5398A>C (p.Thr1800Pro) c.5320A>C (p.Thr1774Pro) c.4972A>C (p.Thr1658Pro) c.4597A>C (p.Thr1533Pro) c.5404A>C (p.Thr1802Pro) c.5506A>C (p.Thr1836Pro) c.5449A>C (p.Thr1817Pro) c.5425A>C (p.Thr1809Pro) c.5380A>C (p.Thr1794Pro) | |
3 | g.53801271A>G | CA353250805 | CACNA1D | c.5314A>G (p.Thr1772Ala) n.2253A>G n.689A>G c.5254A>G (p.Thr1752Ala) c.5209A>G (p.Thr1737Ala) c.1375A>G n.610A>G n.681A>G c.5281A>G (p.Thr1761Ala) n.8A>G c.4333A>G (p.Thr1445Ala) c.5509A>G (p.Thr1837Ala) c.5398A>G (p.Thr1800Ala) c.5320A>G (p.Thr1774Ala) c.4972A>G (p.Thr1658Ala) c.4597A>G (p.Thr1533Ala) c.5404A>G (p.Thr1802Ala) c.5506A>G (p.Thr1836Ala) c.5449A>G (p.Thr1817Ala) c.5425A>G (p.Thr1809Ala) c.5380A>G (p.Thr1794Ala) | ClinVar gnomAD v4 |
3 | g.53801271A>T | CA353250807 | CACNA1D | c.5314A>T (p.Thr1772Ser) n.2253A>T n.689A>T c.5254A>T (p.Thr1752Ser) c.5209A>T (p.Thr1737Ser) c.1375A>T n.610A>T n.681A>T c.5281A>T (p.Thr1761Ser) n.8A>T c.4333A>T (p.Thr1445Ser) c.5509A>T (p.Thr1837Ser) c.5398A>T (p.Thr1800Ser) c.5320A>T (p.Thr1774Ser) c.4972A>T (p.Thr1658Ser) c.4597A>T (p.Thr1533Ser) c.5404A>T (p.Thr1802Ser) c.5506A>T (p.Thr1836Ser) c.5449A>T (p.Thr1817Ser) c.5425A>T (p.Thr1809Ser) c.5380A>T (p.Thr1794Ser) | |
3 | g.53801272C>A | CA2455091 | CACNA1D | c.5315C>A (p.Thr1772Asn) n.2254C>A n.690C>A c.5255C>A (p.Thr1752Asn) c.5210C>A (p.Thr1737Asn) c.1376C>A n.611C>A n.682C>A c.5282C>A (p.Thr1761Asn) n.9C>A c.4334C>A (p.Thr1445Asn) c.5510C>A (p.Thr1837Asn) c.5399C>A (p.Thr1800Asn) c.5321C>A (p.Thr1774Asn) c.4973C>A (p.Thr1658Asn) c.4598C>A (p.Thr1533Asn) c.5405C>A (p.Thr1802Asn) c.5507C>A (p.Thr1836Asn) c.5450C>A (p.Thr1817Asn) c.5426C>A (p.Thr1809Asn) c.5381C>A (p.Thr1794Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.53801272C= | CA1365484182 | CACNA1D | c.5315C= (p.Thr1772=) n.2254C= n.690C= c.5255C= (p.Thr1752=) c.5210C= (p.Thr1737=) c.1376C= n.611C= n.682C= c.5282C= (p.Thr1761=) n.9C= c.4334C= (p.Thr1445=) c.5510C= (p.Thr1837=) c.5399C= (p.Thr1800=) c.5321C= (p.Thr1774=) c.4973C= (p.Thr1658=) c.4598C= (p.Thr1533=) c.5405C= (p.Thr1802=) c.5507C= (p.Thr1836=) c.5450C= (p.Thr1817=) c.5426C= (p.Thr1809=) c.5381C= (p.Thr1794=) | |
3 | g.53801272C>G | CA353250812 | CACNA1D | c.5315C>G (p.Thr1772Ser) n.2254C>G n.690C>G c.5255C>G (p.Thr1752Ser) c.5210C>G (p.Thr1737Ser) c.1376C>G n.611C>G n.682C>G c.5282C>G (p.Thr1761Ser) n.9C>G c.4334C>G (p.Thr1445Ser) c.5510C>G (p.Thr1837Ser) c.5399C>G (p.Thr1800Ser) c.5321C>G (p.Thr1774Ser) c.4973C>G (p.Thr1658Ser) c.4598C>G (p.Thr1533Ser) c.5405C>G (p.Thr1802Ser) c.5507C>G (p.Thr1836Ser) c.5450C>G (p.Thr1817Ser) c.5426C>G (p.Thr1809Ser) c.5381C>G (p.Thr1794Ser) | |
3 | g.53801272C>T | CA2455090 | CACNA1D | c.5315C>T (p.Thr1772Ile) n.2254C>T n.690C>T c.5255C>T (p.Thr1752Ile) c.5210C>T (p.Thr1737Ile) c.1376C>T n.611C>T n.682C>T c.5282C>T (p.Thr1761Ile) n.9C>T c.4334C>T (p.Thr1445Ile) c.5510C>T (p.Thr1837Ile) c.5399C>T (p.Thr1800Ile) c.5321C>T (p.Thr1774Ile) c.4973C>T (p.Thr1658Ile) c.4598C>T (p.Thr1533Ile) c.5405C>T (p.Thr1802Ile) c.5507C>T (p.Thr1836Ile) c.5450C>T (p.Thr1817Ile) c.5426C>T (p.Thr1809Ile) c.5381C>T (p.Thr1794Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.53801273C>A | CA433896148 | CACNA1D | c.5316C>A (p.Thr1772=) n.2255C>A n.691C>A c.5256C>A (p.Thr1752=) c.5211C>A (p.Thr1737=) c.1377C>A n.612C>A n.683C>A c.5283C>A (p.Thr1761=) n.10C>A c.4335C>A (p.Thr1445=) c.5511C>A (p.Thr1837=) c.5400C>A (p.Thr1800=) c.5322C>A (p.Thr1774=) c.4974C>A (p.Thr1658=) c.4599C>A (p.Thr1533=) c.5406C>A (p.Thr1802=) c.5508C>A (p.Thr1836=) c.5451C>A (p.Thr1817=) c.5427C>A (p.Thr1809=) c.5382C>A (p.Thr1794=) | |
3 | g.53801273C>G | CA433896149 | CACNA1D | c.5316C>G (p.Thr1772=) n.2255C>G n.691C>G c.5256C>G (p.Thr1752=) c.5211C>G (p.Thr1737=) c.1377C>G n.612C>G n.683C>G c.5283C>G (p.Thr1761=) n.10C>G c.4335C>G (p.Thr1445=) c.5511C>G (p.Thr1837=) c.5400C>G (p.Thr1800=) c.5322C>G (p.Thr1774=) c.4974C>G (p.Thr1658=) c.4599C>G (p.Thr1533=) c.5406C>G (p.Thr1802=) c.5508C>G (p.Thr1836=) c.5451C>G (p.Thr1817=) c.5427C>G (p.Thr1809=) c.5382C>G (p.Thr1794=) | |
3 | g.53801273C>T | CA433896150 | CACNA1D | c.5316C>T (p.Thr1772=) n.2255C>T n.691C>T c.5256C>T (p.Thr1752=) c.5211C>T (p.Thr1737=) c.1377C>T n.612C>T n.683C>T c.5283C>T (p.Thr1761=) n.10C>T c.4335C>T (p.Thr1445=) c.5511C>T (p.Thr1837=) c.5400C>T (p.Thr1800=) c.5322C>T (p.Thr1774=) c.4974C>T (p.Thr1658=) c.4599C>T (p.Thr1533=) c.5406C>T (p.Thr1802=) c.5508C>T (p.Thr1836=) c.5451C>T (p.Thr1817=) c.5427C>T (p.Thr1809=) c.5382C>T (p.Thr1794=) | COSMIC COSMIC |
3 | g.53801274T>A | CA353250814 | CACNA1D | c.5317T>A (p.Ser1773Thr) n.2256T>A n.692T>A c.5257T>A (p.Ser1753Thr) c.5212T>A (p.Ser1738Thr) c.1378T>A n.613T>A n.684T>A c.5284T>A (p.Ser1762Thr) n.11T>A c.4336T>A (p.Ser1446Thr) c.5512T>A (p.Ser1838Thr) c.5401T>A (p.Ser1801Thr) c.5323T>A (p.Ser1775Thr) c.4975T>A (p.Ser1659Thr) c.4600T>A (p.Ser1534Thr) c.5407T>A (p.Ser1803Thr) c.5509T>A (p.Ser1837Thr) c.5452T>A (p.Ser1818Thr) c.5428T>A (p.Ser1810Thr) c.5383T>A (p.Ser1795Thr) | |
3 | g.53801274T>C | CA353250817 | CACNA1D | c.5317T>C (p.Ser1773Pro) n.2256T>C n.692T>C c.5257T>C (p.Ser1753Pro) c.5212T>C (p.Ser1738Pro) c.1378T>C n.613T>C n.684T>C c.5284T>C (p.Ser1762Pro) n.11T>C c.4336T>C (p.Ser1446Pro) c.5512T>C (p.Ser1838Pro) c.5401T>C (p.Ser1801Pro) c.5323T>C (p.Ser1775Pro) c.4975T>C (p.Ser1659Pro) c.4600T>C (p.Ser1534Pro) c.5407T>C (p.Ser1803Pro) c.5509T>C (p.Ser1837Pro) c.5452T>C (p.Ser1818Pro) c.5428T>C (p.Ser1810Pro) c.5383T>C (p.Ser1795Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.53801274T>G | CA353250819 | CACNA1D | c.5317T>G (p.Ser1773Ala) n.2256T>G n.692T>G c.5257T>G (p.Ser1753Ala) c.5212T>G (p.Ser1738Ala) c.1378T>G n.613T>G n.684T>G c.5284T>G (p.Ser1762Ala) n.11T>G c.4336T>G (p.Ser1446Ala) c.5512T>G (p.Ser1838Ala) c.5401T>G (p.Ser1801Ala) c.5323T>G (p.Ser1775Ala) c.4975T>G (p.Ser1659Ala) c.4600T>G (p.Ser1534Ala) c.5407T>G (p.Ser1803Ala) c.5509T>G (p.Ser1837Ala) c.5452T>G (p.Ser1818Ala) c.5428T>G (p.Ser1810Ala) c.5383T>G (p.Ser1795Ala) | |
3 | g.53801274T= | CA1365484183 | CACNA1D | c.5317T= (p.Ser1773=) n.2256T= n.692T= c.5257T= (p.Ser1753=) c.5212T= (p.Ser1738=) c.1378T= n.613T= n.684T= c.5284T= (p.Ser1762=) n.11T= c.4336T= (p.Ser1446=) c.5512T= (p.Ser1838=) c.5401T= (p.Ser1801=) c.5323T= (p.Ser1775=) c.4975T= (p.Ser1659=) c.4600T= (p.Ser1534=) c.5407T= (p.Ser1803=) c.5509T= (p.Ser1837=) c.5452T= (p.Ser1818=) c.5428T= (p.Ser1810=) c.5383T= (p.Ser1795=) | |
3 | g.53801275C>A | CA353250821 | CACNA1D | c.5318C>A (p.Ser1773Ter) n.2257C>A n.693C>A c.5258C>A (p.Ser1753Ter) c.5213C>A (p.Ser1738Ter) c.1379C>A n.614C>A n.685C>A c.5285C>A (p.Ser1762Ter) n.12C>A c.4337C>A (p.Ser1446Ter) c.5513C>A (p.Ser1838Ter) c.5402C>A (p.Ser1801Ter) c.5324C>A (p.Ser1775Ter) c.4976C>A (p.Ser1659Ter) c.4601C>A (p.Ser1534Ter) c.5408C>A (p.Ser1803Ter) c.5510C>A (p.Ser1837Ter) c.5453C>A (p.Ser1818Ter) c.5429C>A (p.Ser1810Ter) c.5384C>A (p.Ser1795Ter) | |
3 | g.53801275C>G | CA353250826 | CACNA1D | c.5318C>G (p.Ser1773Ter) n.2257C>G n.693C>G c.5258C>G (p.Ser1753Ter) c.5213C>G (p.Ser1738Ter) c.1379C>G n.614C>G n.685C>G c.5285C>G (p.Ser1762Ter) n.12C>G c.4337C>G (p.Ser1446Ter) c.5513C>G (p.Ser1838Ter) c.5402C>G (p.Ser1801Ter) c.5324C>G (p.Ser1775Ter) c.4976C>G (p.Ser1659Ter) c.4601C>G (p.Ser1534Ter) c.5408C>G (p.Ser1803Ter) c.5510C>G (p.Ser1837Ter) c.5453C>G (p.Ser1818Ter) c.5429C>G (p.Ser1810Ter) c.5384C>G (p.Ser1795Ter) | |
3 | g.53801275C>T | CA353250828 | CACNA1D | c.5318C>T (p.Ser1773Leu) n.2257C>T n.693C>T c.5258C>T (p.Ser1753Leu) c.5213C>T (p.Ser1738Leu) c.1379C>T n.614C>T n.685C>T c.5285C>T (p.Ser1762Leu) n.12C>T c.4337C>T (p.Ser1446Leu) c.5513C>T (p.Ser1838Leu) c.5402C>T (p.Ser1801Leu) c.5324C>T (p.Ser1775Leu) c.4976C>T (p.Ser1659Leu) c.4601C>T (p.Ser1534Leu) c.5408C>T (p.Ser1803Leu) c.5510C>T (p.Ser1837Leu) c.5453C>T (p.Ser1818Leu) c.5429C>T (p.Ser1810Leu) c.5384C>T (p.Ser1795Leu) | |
3 | g.53801278_53801280del | CA2666139599 | CACNA1D | c.5321_5323del (p.Thr1774del) n.2260_2262del n.696_698del c.5261_5263del (p.Thr1754del) c.5216_5218del (p.Thr1739del) c.1382_1384del n.617_619del n.688_690del c.5288_5290del (p.Thr1763del) n.15_17del c.4340_4342del (p.Thr1447del) c.5516_5518del (p.Thr1839del) c.5405_5407del (p.Thr1802del) c.5327_5329del (p.Thr1776del) c.4979_4981del (p.Thr1660del) c.4604_4606del (p.Thr1535del) c.5411_5413del (p.Thr1804del) c.5513_5515del (p.Thr1838del) c.5456_5458del (p.Thr1819del) c.5432_5434del (p.Thr1811del) c.5387_5389del (p.Thr1796del) | ClinVar gnomAD v4 |
3 | g.53801276A= | CA1365484184 | CACNA1D | c.5319A= (p.Ser1773=) n.2258A= n.694A= c.5259A= (p.Ser1753=) c.5214A= (p.Ser1738=) c.1380A= n.615A= n.686A= c.5286A= (p.Ser1762=) n.13A= c.4338A= (p.Ser1446=) c.5514A= (p.Ser1838=) c.5403A= (p.Ser1801=) c.5325A= (p.Ser1775=) c.4977A= (p.Ser1659=) c.4602A= (p.Ser1534=) c.5409A= (p.Ser1803=) c.5511A= (p.Ser1837=) c.5454A= (p.Ser1818=) c.5430A= (p.Ser1810=) c.5385A= (p.Ser1795=) | |
3 | g.53801276A>C | CA433896153 | CACNA1D | c.5319A>C (p.Ser1773=) n.2258A>C n.694A>C c.5259A>C (p.Ser1753=) c.5214A>C (p.Ser1738=) c.1380A>C n.615A>C n.686A>C c.5286A>C (p.Ser1762=) n.13A>C c.4338A>C (p.Ser1446=) c.5514A>C (p.Ser1838=) c.5403A>C (p.Ser1801=) c.5325A>C (p.Ser1775=) c.4977A>C (p.Ser1659=) c.4602A>C (p.Ser1534=) c.5409A>C (p.Ser1803=) c.5511A>C (p.Ser1837=) c.5454A>C (p.Ser1818=) c.5430A>C (p.Ser1810=) c.5385A>C (p.Ser1795=) | dbSNP |
3 | g.53801276A>G | CA433896154 | CACNA1D | c.5319A>G (p.Ser1773=) n.2258A>G n.694A>G c.5259A>G (p.Ser1753=) c.5214A>G (p.Ser1738=) c.1380A>G n.615A>G n.686A>G c.5286A>G (p.Ser1762=) n.13A>G c.4338A>G (p.Ser1446=) c.5514A>G (p.Ser1838=) c.5403A>G (p.Ser1801=) c.5325A>G (p.Ser1775=) c.4977A>G (p.Ser1659=) c.4602A>G (p.Ser1534=) c.5409A>G (p.Ser1803=) c.5511A>G (p.Ser1837=) c.5454A>G (p.Ser1818=) c.5430A>G (p.Ser1810=) c.5385A>G (p.Ser1795=) | ClinVar dbSNP gnomAD v4 |
3 | g.53801276A>T | CA433896156 | CACNA1D | c.5319A>T (p.Ser1773=) n.2258A>T n.694A>T c.5259A>T (p.Ser1753=) c.5214A>T (p.Ser1738=) c.1380A>T n.615A>T n.686A>T c.5286A>T (p.Ser1762=) n.13A>T c.4338A>T (p.Ser1446=) c.5514A>T (p.Ser1838=) c.5403A>T (p.Ser1801=) c.5325A>T (p.Ser1775=) c.4977A>T (p.Ser1659=) c.4602A>T (p.Ser1534=) c.5409A>T (p.Ser1803=) c.5511A>T (p.Ser1837=) c.5454A>T (p.Ser1818=) c.5430A>T (p.Ser1810=) c.5385A>T (p.Ser1795=) | |
3 | g.53801277A= | CA1365484185 | CACNA1D | c.5320A= (p.Thr1774=) n.2259A= n.695A= c.5260A= (p.Thr1754=) c.5215A= (p.Thr1739=) c.1381A= n.616A= n.687A= c.5287A= (p.Thr1763=) n.14A= c.4339A= (p.Thr1447=) c.5515A= (p.Thr1839=) c.5404A= (p.Thr1802=) c.5326A= (p.Thr1776=) c.4978A= (p.Thr1660=) c.4603A= (p.Thr1535=) c.5410A= (p.Thr1804=) c.5512A= (p.Thr1838=) c.5455A= (p.Thr1819=) c.5431A= (p.Thr1811=) c.5386A= (p.Thr1796=) | |
3 | g.53801277A>C | CA353250831 | CACNA1D | c.5320A>C (p.Thr1774Pro) n.2259A>C n.695A>C c.5260A>C (p.Thr1754Pro) c.5215A>C (p.Thr1739Pro) c.1381A>C n.616A>C n.687A>C c.5287A>C (p.Thr1763Pro) n.14A>C c.4339A>C (p.Thr1447Pro) c.5515A>C (p.Thr1839Pro) c.5404A>C (p.Thr1802Pro) c.5326A>C (p.Thr1776Pro) c.4978A>C (p.Thr1660Pro) c.4603A>C (p.Thr1535Pro) c.5410A>C (p.Thr1804Pro) c.5512A>C (p.Thr1838Pro) c.5455A>C (p.Thr1819Pro) c.5431A>C (p.Thr1811Pro) c.5386A>C (p.Thr1796Pro) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.53801277A>G | CA353250833 | CACNA1D | c.5320A>G (p.Thr1774Ala) n.2259A>G n.695A>G c.5260A>G (p.Thr1754Ala) c.5215A>G (p.Thr1739Ala) c.1381A>G n.616A>G n.687A>G c.5287A>G (p.Thr1763Ala) n.14A>G c.4339A>G (p.Thr1447Ala) c.5515A>G (p.Thr1839Ala) c.5404A>G (p.Thr1802Ala) c.5326A>G (p.Thr1776Ala) c.4978A>G (p.Thr1660Ala) c.4603A>G (p.Thr1535Ala) c.5410A>G (p.Thr1804Ala) c.5512A>G (p.Thr1838Ala) c.5455A>G (p.Thr1819Ala) c.5431A>G (p.Thr1811Ala) c.5386A>G (p.Thr1796Ala) | gnomAD v4 |
3 | g.53801277A>T | CA353250834 | CACNA1D | c.5320A>T (p.Thr1774Ser) n.2259A>T n.695A>T c.5260A>T (p.Thr1754Ser) c.5215A>T (p.Thr1739Ser) c.1381A>T n.616A>T n.687A>T c.5287A>T (p.Thr1763Ser) n.14A>T c.4339A>T (p.Thr1447Ser) c.5515A>T (p.Thr1839Ser) c.5404A>T (p.Thr1802Ser) c.5326A>T (p.Thr1776Ser) c.4978A>T (p.Thr1660Ser) c.4603A>T (p.Thr1535Ser) c.5410A>T (p.Thr1804Ser) c.5512A>T (p.Thr1838Ser) c.5455A>T (p.Thr1819Ser) c.5431A>T (p.Thr1811Ser) c.5386A>T (p.Thr1796Ser) | |
3 | g.53801278C>A | CA353250837 | CACNA1D | c.5321C>A (p.Thr1774Lys) n.2260C>A n.696C>A c.5261C>A (p.Thr1754Lys) c.5216C>A (p.Thr1739Lys) c.1382C>A n.617C>A n.688C>A c.5288C>A (p.Thr1763Lys) n.15C>A c.4340C>A (p.Thr1447Lys) c.5516C>A (p.Thr1839Lys) c.5405C>A (p.Thr1802Lys) c.5327C>A (p.Thr1776Lys) c.4979C>A (p.Thr1660Lys) c.4604C>A (p.Thr1535Lys) c.5411C>A (p.Thr1804Lys) c.5513C>A (p.Thr1838Lys) c.5456C>A (p.Thr1819Lys) c.5432C>A (p.Thr1811Lys) c.5387C>A (p.Thr1796Lys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.53801278C= | CA1365484186 | CACNA1D | c.5321C= (p.Thr1774=) n.2260C= n.696C= c.5261C= (p.Thr1754=) c.5216C= (p.Thr1739=) c.1382C= n.617C= n.688C= c.5288C= (p.Thr1763=) n.15C= c.4340C= (p.Thr1447=) c.5516C= (p.Thr1839=) c.5405C= (p.Thr1802=) c.5327C= (p.Thr1776=) c.4979C= (p.Thr1660=) c.4604C= (p.Thr1535=) c.5411C= (p.Thr1804=) c.5513C= (p.Thr1838=) c.5456C= (p.Thr1819=) c.5432C= (p.Thr1811=) c.5387C= (p.Thr1796=) | |
3 | g.53801278C>G | CA353250840 | CACNA1D | c.5321C>G (p.Thr1774Arg) n.2260C>G n.696C>G c.5261C>G (p.Thr1754Arg) c.5216C>G (p.Thr1739Arg) c.1382C>G n.617C>G n.688C>G c.5288C>G (p.Thr1763Arg) n.15C>G c.4340C>G (p.Thr1447Arg) c.5516C>G (p.Thr1839Arg) c.5405C>G (p.Thr1802Arg) c.5327C>G (p.Thr1776Arg) c.4979C>G (p.Thr1660Arg) c.4604C>G (p.Thr1535Arg) c.5411C>G (p.Thr1804Arg) c.5513C>G (p.Thr1838Arg) c.5456C>G (p.Thr1819Arg) c.5432C>G (p.Thr1811Arg) c.5387C>G (p.Thr1796Arg) | |
3 | g.53801278C>T | CA353250839 | CACNA1D | c.5321C>T (p.Thr1774Ile) n.2260C>T n.696C>T c.5261C>T (p.Thr1754Ile) c.5216C>T (p.Thr1739Ile) c.1382C>T n.617C>T n.688C>T c.5288C>T (p.Thr1763Ile) n.15C>T c.4340C>T (p.Thr1447Ile) c.5516C>T (p.Thr1839Ile) c.5405C>T (p.Thr1802Ile) c.5327C>T (p.Thr1776Ile) c.4979C>T (p.Thr1660Ile) c.4604C>T (p.Thr1535Ile) c.5411C>T (p.Thr1804Ile) c.5513C>T (p.Thr1838Ile) c.5456C>T (p.Thr1819Ile) c.5432C>T (p.Thr1811Ile) c.5387C>T (p.Thr1796Ile) | gnomAD v4 |
3 | g.53801279A>C | CA433896157 | CACNA1D | c.5322A>C (p.Thr1774=) n.2261A>C n.697A>C c.5262A>C (p.Thr1754=) c.5217A>C (p.Thr1739=) c.1383A>C n.618A>C n.689A>C c.5289A>C (p.Thr1763=) n.16A>C c.4341A>C (p.Thr1447=) c.5517A>C (p.Thr1839=) c.5406A>C (p.Thr1802=) c.5328A>C (p.Thr1776=) c.4980A>C (p.Thr1660=) c.4605A>C (p.Thr1535=) c.5412A>C (p.Thr1804=) c.5514A>C (p.Thr1838=) c.5457A>C (p.Thr1819=) c.5433A>C (p.Thr1811=) c.5388A>C (p.Thr1796=) | |
3 | g.53801279A>G | CA433896158 | CACNA1D | c.5322A>G (p.Thr1774=) n.2261A>G n.697A>G c.5262A>G (p.Thr1754=) c.5217A>G (p.Thr1739=) c.1383A>G n.618A>G n.689A>G c.5289A>G (p.Thr1763=) n.16A>G c.4341A>G (p.Thr1447=) c.5517A>G (p.Thr1839=) c.5406A>G (p.Thr1802=) c.5328A>G (p.Thr1776=) c.4980A>G (p.Thr1660=) c.4605A>G (p.Thr1535=) c.5412A>G (p.Thr1804=) c.5514A>G (p.Thr1838=) c.5457A>G (p.Thr1819=) c.5433A>G (p.Thr1811=) c.5388A>G (p.Thr1796=) | |
3 | g.53801279A>T | CA433896159 | CACNA1D | c.5322A>T (p.Thr1774=) n.2261A>T n.697A>T c.5262A>T (p.Thr1754=) c.5217A>T (p.Thr1739=) c.1383A>T n.618A>T n.689A>T c.5289A>T (p.Thr1763=) n.16A>T c.4341A>T (p.Thr1447=) c.5517A>T (p.Thr1839=) c.5406A>T (p.Thr1802=) c.5328A>T (p.Thr1776=) c.4980A>T (p.Thr1660=) c.4605A>T (p.Thr1535=) c.5412A>T (p.Thr1804=) c.5514A>T (p.Thr1838=) c.5457A>T (p.Thr1819=) c.5433A>T (p.Thr1811=) c.5388A>T (p.Thr1796=) | |
3 | g.53801280A>C | CA353250843 | CACNA1D | c.5323A>C (p.Asn1775His) n.2262A>C n.698A>C c.5263A>C (p.Asn1755His) c.5218A>C (p.Asn1740His) c.1384A>C n.619A>C n.690A>C c.5290A>C (p.Asn1764His) n.17A>C c.4342A>C (p.Asn1448His) c.5518A>C (p.Asn1840His) c.5407A>C (p.Asn1803His) c.5329A>C (p.Asn1777His) c.4981A>C (p.Asn1661His) c.4606A>C (p.Asn1536His) c.5413A>C (p.Asn1805His) c.5515A>C (p.Asn1839His) c.5458A>C (p.Asn1820His) c.5434A>C (p.Asn1812His) c.5389A>C (p.Asn1797His) | |
3 | g.53801280A>G | CA353250845 | CACNA1D | c.5323A>G (p.Asn1775Asp) n.2262A>G n.698A>G c.5263A>G (p.Asn1755Asp) c.5218A>G (p.Asn1740Asp) c.1384A>G n.619A>G n.690A>G c.5290A>G (p.Asn1764Asp) n.17A>G c.4342A>G (p.Asn1448Asp) c.5518A>G (p.Asn1840Asp) c.5407A>G (p.Asn1803Asp) c.5329A>G (p.Asn1777Asp) c.4981A>G (p.Asn1661Asp) c.4606A>G (p.Asn1536Asp) c.5413A>G (p.Asn1805Asp) c.5515A>G (p.Asn1839Asp) c.5458A>G (p.Asn1820Asp) c.5434A>G (p.Asn1812Asp) c.5389A>G (p.Asn1797Asp) | |
3 | g.53801280A>T | CA353250847 | CACNA1D | c.5323A>T (p.Asn1775Tyr) n.2262A>T n.698A>T c.5263A>T (p.Asn1755Tyr) c.5218A>T (p.Asn1740Tyr) c.1384A>T n.619A>T n.690A>T c.5290A>T (p.Asn1764Tyr) n.17A>T c.4342A>T (p.Asn1448Tyr) c.5518A>T (p.Asn1840Tyr) c.5407A>T (p.Asn1803Tyr) c.5329A>T (p.Asn1777Tyr) c.4981A>T (p.Asn1661Tyr) c.4606A>T (p.Asn1536Tyr) c.5413A>T (p.Asn1805Tyr) c.5515A>T (p.Asn1839Tyr) c.5458A>T (p.Asn1820Tyr) c.5434A>T (p.Asn1812Tyr) c.5389A>T (p.Asn1797Tyr) | |
3 | g.53801281A>C | CA353250850 | CACNA1D | c.5324A>C (p.Asn1775Thr) n.2263A>C n.699A>C c.5264A>C (p.Asn1755Thr) c.5219A>C (p.Asn1740Thr) c.1385A>C n.620A>C n.691A>C c.5291A>C (p.Asn1764Thr) n.18A>C c.4343A>C (p.Asn1448Thr) c.5519A>C (p.Asn1840Thr) c.5408A>C (p.Asn1803Thr) c.5330A>C (p.Asn1777Thr) c.4982A>C (p.Asn1661Thr) c.4607A>C (p.Asn1536Thr) c.5414A>C (p.Asn1805Thr) c.5516A>C (p.Asn1839Thr) c.5459A>C (p.Asn1820Thr) c.5435A>C (p.Asn1812Thr) c.5390A>C (p.Asn1797Thr) | COSMIC |
3 | g.53801281A>G | CA353250851 | CACNA1D | c.5324A>G (p.Asn1775Ser) n.2263A>G n.699A>G c.5264A>G (p.Asn1755Ser) c.5219A>G (p.Asn1740Ser) c.1385A>G n.620A>G n.691A>G c.5291A>G (p.Asn1764Ser) n.18A>G c.4343A>G (p.Asn1448Ser) c.5519A>G (p.Asn1840Ser) c.5408A>G (p.Asn1803Ser) c.5330A>G (p.Asn1777Ser) c.4982A>G (p.Asn1661Ser) c.4607A>G (p.Asn1536Ser) c.5414A>G (p.Asn1805Ser) c.5516A>G (p.Asn1839Ser) c.5459A>G (p.Asn1820Ser) c.5435A>G (p.Asn1812Ser) c.5390A>G (p.Asn1797Ser) | |
3 | g.53801281A>T | CA353250853 | CACNA1D | c.5324A>T (p.Asn1775Ile) n.2263A>T n.699A>T c.5264A>T (p.Asn1755Ile) c.5219A>T (p.Asn1740Ile) c.1385A>T n.620A>T n.691A>T c.5291A>T (p.Asn1764Ile) n.18A>T c.4343A>T (p.Asn1448Ile) c.5519A>T (p.Asn1840Ile) c.5408A>T (p.Asn1803Ile) c.5330A>T (p.Asn1777Ile) c.4982A>T (p.Asn1661Ile) c.4607A>T (p.Asn1536Ile) c.5414A>T (p.Asn1805Ile) c.5516A>T (p.Asn1839Ile) c.5459A>T (p.Asn1820Ile) c.5435A>T (p.Asn1812Ile) c.5390A>T (p.Asn1797Ile) | |
3 | g.53801282T>A | CA353250855 | CACNA1D | c.5325T>A (p.Asn1775Lys) n.2264T>A n.700T>A c.5265T>A (p.Asn1755Lys) c.5220T>A (p.Asn1740Lys) c.1386T>A n.621T>A n.692T>A c.5292T>A (p.Asn1764Lys) n.19T>A c.4344T>A (p.Asn1448Lys) c.5520T>A (p.Asn1840Lys) c.5409T>A (p.Asn1803Lys) c.5331T>A (p.Asn1777Lys) c.4983T>A (p.Asn1661Lys) c.4608T>A (p.Asn1536Lys) c.5415T>A (p.Asn1805Lys) c.5517T>A (p.Asn1839Lys) c.5460T>A (p.Asn1820Lys) c.5436T>A (p.Asn1812Lys) c.5391T>A (p.Asn1797Lys) | |
3 | g.53801282T>C | CA433896162 | CACNA1D | c.5325T>C (p.Asn1775=) n.2264T>C n.700T>C c.5265T>C (p.Asn1755=) c.5220T>C (p.Asn1740=) c.1386T>C n.621T>C n.692T>C c.5292T>C (p.Asn1764=) n.19T>C c.4344T>C (p.Asn1448=) c.5520T>C (p.Asn1840=) c.5409T>C (p.Asn1803=) c.5331T>C (p.Asn1777=) c.4983T>C (p.Asn1661=) c.4608T>C (p.Asn1536=) c.5415T>C (p.Asn1805=) c.5517T>C (p.Asn1839=) c.5460T>C (p.Asn1820=) c.5436T>C (p.Asn1812=) c.5391T>C (p.Asn1797=) | |
3 | g.53801282T>G | CA353250857 | CACNA1D | c.5325T>G (p.Asn1775Lys) n.2264T>G n.700T>G c.5265T>G (p.Asn1755Lys) c.5220T>G (p.Asn1740Lys) c.1386T>G n.621T>G n.692T>G c.5292T>G (p.Asn1764Lys) n.19T>G c.4344T>G (p.Asn1448Lys) c.5520T>G (p.Asn1840Lys) c.5409T>G (p.Asn1803Lys) c.5331T>G (p.Asn1777Lys) c.4983T>G (p.Asn1661Lys) c.4608T>G (p.Asn1536Lys) c.5415T>G (p.Asn1805Lys) c.5517T>G (p.Asn1839Lys) c.5460T>G (p.Asn1820Lys) c.5436T>G (p.Asn1812Lys) c.5391T>G (p.Asn1797Lys) | |
3 | g.53801283G>A | CA353250860 | CACNA1D | c.5326G>A (p.Ala1776Thr) n.2265G>A n.701G>A c.5266G>A (p.Ala1756Thr) c.5221G>A (p.Ala1741Thr) c.1387G>A n.622G>A n.693G>A c.5293G>A (p.Ala1765Thr) n.20G>A c.4345G>A (p.Ala1449Thr) c.5521G>A (p.Ala1841Thr) c.5410G>A (p.Ala1804Thr) c.5332G>A (p.Ala1778Thr) c.4984G>A (p.Ala1662Thr) c.4609G>A (p.Ala1537Thr) c.5416G>A (p.Ala1806Thr) c.5518G>A (p.Ala1840Thr) c.5461G>A (p.Ala1821Thr) c.5437G>A (p.Ala1813Thr) c.5392G>A (p.Ala1798Thr) | ClinVar |
3 | g.53801283G>C | CA353250861 | CACNA1D | c.5326G>C (p.Ala1776Pro) n.2265G>C n.701G>C c.5266G>C (p.Ala1756Pro) c.5221G>C (p.Ala1741Pro) c.1387G>C n.622G>C n.693G>C c.5293G>C (p.Ala1765Pro) n.20G>C c.4345G>C (p.Ala1449Pro) c.5521G>C (p.Ala1841Pro) c.5410G>C (p.Ala1804Pro) c.5332G>C (p.Ala1778Pro) c.4984G>C (p.Ala1662Pro) c.4609G>C (p.Ala1537Pro) c.5416G>C (p.Ala1806Pro) c.5518G>C (p.Ala1840Pro) c.5461G>C (p.Ala1821Pro) c.5437G>C (p.Ala1813Pro) c.5392G>C (p.Ala1798Pro) | |
3 | g.53801283G>T | CA353250863 | CACNA1D | c.5326G>T (p.Ala1776Ser) n.2265G>T n.701G>T c.5266G>T (p.Ala1756Ser) c.5221G>T (p.Ala1741Ser) c.1387G>T n.622G>T n.693G>T c.5293G>T (p.Ala1765Ser) n.20G>T c.4345G>T (p.Ala1449Ser) c.5521G>T (p.Ala1841Ser) c.5410G>T (p.Ala1804Ser) c.5332G>T (p.Ala1778Ser) c.4984G>T (p.Ala1662Ser) c.4609G>T (p.Ala1537Ser) c.5416G>T (p.Ala1806Ser) c.5518G>T (p.Ala1840Ser) c.5461G>T (p.Ala1821Ser) c.5437G>T (p.Ala1813Ser) c.5392G>T (p.Ala1798Ser) | |
3 | g.53801284C>A | CA353250866 | CACNA1D | c.5327C>A (p.Ala1776Asp) n.2266C>A n.702C>A c.5267C>A (p.Ala1756Asp) c.5222C>A (p.Ala1741Asp) c.1388C>A n.623C>A n.694C>A c.5294C>A (p.Ala1765Asp) n.21C>A c.4346C>A (p.Ala1449Asp) c.5522C>A (p.Ala1841Asp) c.5411C>A (p.Ala1804Asp) c.5333C>A (p.Ala1778Asp) c.4985C>A (p.Ala1662Asp) c.4610C>A (p.Ala1537Asp) c.5417C>A (p.Ala1806Asp) c.5519C>A (p.Ala1840Asp) c.5462C>A (p.Ala1821Asp) c.5438C>A (p.Ala1813Asp) c.5393C>A (p.Ala1798Asp) | gnomAD v4 |
3 | g.53801284C>G | CA353250867 | CACNA1D | c.5327C>G (p.Ala1776Gly) n.2266C>G n.702C>G c.5267C>G (p.Ala1756Gly) c.5222C>G (p.Ala1741Gly) c.1388C>G n.623C>G n.694C>G c.5294C>G (p.Ala1765Gly) n.21C>G c.4346C>G (p.Ala1449Gly) c.5522C>G (p.Ala1841Gly) c.5411C>G (p.Ala1804Gly) c.5333C>G (p.Ala1778Gly) c.4985C>G (p.Ala1662Gly) c.4610C>G (p.Ala1537Gly) c.5417C>G (p.Ala1806Gly) c.5519C>G (p.Ala1840Gly) c.5462C>G (p.Ala1821Gly) c.5438C>G (p.Ala1813Gly) c.5393C>G (p.Ala1798Gly) | |
3 | g.53801284C>T | CA353250869 | CACNA1D | c.5327C>T (p.Ala1776Val) n.2266C>T n.702C>T c.5267C>T (p.Ala1756Val) c.5222C>T (p.Ala1741Val) c.1388C>T n.623C>T n.694C>T c.5294C>T (p.Ala1765Val) n.21C>T c.4346C>T (p.Ala1449Val) c.5522C>T (p.Ala1841Val) c.5411C>T (p.Ala1804Val) c.5333C>T (p.Ala1778Val) c.4985C>T (p.Ala1662Val) c.4610C>T (p.Ala1537Val) c.5417C>T (p.Ala1806Val) c.5519C>T (p.Ala1840Val) c.5462C>T (p.Ala1821Val) c.5438C>T (p.Ala1813Val) c.5393C>T (p.Ala1798Val) | gnomAD v4 |
3 | g.53801285C>A | CA433896165 | CACNA1D | c.5328C>A (p.Ala1776=) n.2267C>A n.703C>A c.5268C>A (p.Ala1756=) c.5223C>A (p.Ala1741=) c.1389C>A n.624C>A n.695C>A c.5295C>A (p.Ala1765=) n.22C>A c.4347C>A (p.Ala1449=) c.5523C>A (p.Ala1841=) c.5412C>A (p.Ala1804=) c.5334C>A (p.Ala1778=) c.4986C>A (p.Ala1662=) c.4611C>A (p.Ala1537=) c.5418C>A (p.Ala1806=) c.5520C>A (p.Ala1840=) c.5463C>A (p.Ala1821=) c.5439C>A (p.Ala1813=) c.5394C>A (p.Ala1798=) | |
3 | g.53801285C>G | CA433896164 | CACNA1D | c.5328C>G (p.Ala1776=) n.2267C>G n.703C>G c.5268C>G (p.Ala1756=) c.5223C>G (p.Ala1741=) c.1389C>G n.624C>G n.695C>G c.5295C>G (p.Ala1765=) n.22C>G c.4347C>G (p.Ala1449=) c.5523C>G (p.Ala1841=) c.5412C>G (p.Ala1804=) c.5334C>G (p.Ala1778=) c.4986C>G (p.Ala1662=) c.4611C>G (p.Ala1537=) c.5418C>G (p.Ala1806=) c.5520C>G (p.Ala1840=) c.5463C>G (p.Ala1821=) c.5439C>G (p.Ala1813=) c.5394C>G (p.Ala1798=) | |
3 | g.53801285C>T | CA433896163 | CACNA1D | c.5328C>T (p.Ala1776=) n.2267C>T n.703C>T c.5268C>T (p.Ala1756=) c.5223C>T (p.Ala1741=) c.1389C>T n.624C>T n.695C>T c.5295C>T (p.Ala1765=) n.22C>T c.4347C>T (p.Ala1449=) c.5523C>T (p.Ala1841=) c.5412C>T (p.Ala1804=) c.5334C>T (p.Ala1778=) c.4986C>T (p.Ala1662=) c.4611C>T (p.Ala1537=) c.5418C>T (p.Ala1806=) c.5520C>T (p.Ala1840=) c.5463C>T (p.Ala1821=) c.5439C>T (p.Ala1813=) c.5394C>T (p.Ala1798=) | ClinVar |
3 | g.53801286A>C | CA353250876 | CACNA1D | c.5329A>C (p.Asn1777His) n.2268A>C n.704A>C c.5269A>C (p.Asn1757His) c.5224A>C (p.Asn1742His) c.1390A>C n.625A>C n.696A>C c.5296A>C (p.Asn1766His) n.23A>C c.4348A>C (p.Asn1450His) c.5524A>C (p.Asn1842His) c.5413A>C (p.Asn1805His) c.5335A>C (p.Asn1779His) c.4987A>C (p.Asn1663His) c.4612A>C (p.Asn1538His) c.5419A>C (p.Asn1807His) c.5521A>C (p.Asn1841His) c.5464A>C (p.Asn1822His) c.5440A>C (p.Asn1814His) c.5395A>C (p.Asn1799His) | |
3 | g.53801286A>G | CA353250874 | CACNA1D | c.5329A>G (p.Asn1777Asp) n.2268A>G n.704A>G c.5269A>G (p.Asn1757Asp) c.5224A>G (p.Asn1742Asp) c.1390A>G n.625A>G n.696A>G c.5296A>G (p.Asn1766Asp) n.23A>G c.4348A>G (p.Asn1450Asp) c.5524A>G (p.Asn1842Asp) c.5413A>G (p.Asn1805Asp) c.5335A>G (p.Asn1779Asp) c.4987A>G (p.Asn1663Asp) c.4612A>G (p.Asn1538Asp) c.5419A>G (p.Asn1807Asp) c.5521A>G (p.Asn1841Asp) c.5464A>G (p.Asn1822Asp) c.5440A>G (p.Asn1814Asp) c.5395A>G (p.Asn1799Asp) | |
3 | g.53801286A>T | CA353250872 | CACNA1D | c.5329A>T (p.Asn1777Tyr) n.2268A>T n.704A>T c.5269A>T (p.Asn1757Tyr) c.5224A>T (p.Asn1742Tyr) c.1390A>T n.625A>T n.696A>T c.5296A>T (p.Asn1766Tyr) n.23A>T c.4348A>T (p.Asn1450Tyr) c.5524A>T (p.Asn1842Tyr) c.5413A>T (p.Asn1805Tyr) c.5335A>T (p.Asn1779Tyr) c.4987A>T (p.Asn1663Tyr) c.4612A>T (p.Asn1538Tyr) c.5419A>T (p.Asn1807Tyr) c.5521A>T (p.Asn1841Tyr) c.5464A>T (p.Asn1822Tyr) c.5440A>T (p.Asn1814Tyr) c.5395A>T (p.Asn1799Tyr) | |
3 | g.53801287A= | CA1365484187 | CACNA1D | c.5330A= (p.Asn1777=) n.2269A= n.705A= c.5270A= (p.Asn1757=) c.5225A= (p.Asn1742=) c.1391A= n.626A= n.697A= c.5297A= (p.Asn1766=) n.24A= c.4349A= (p.Asn1450=) c.5525A= (p.Asn1842=) c.5414A= (p.Asn1805=) c.5336A= (p.Asn1779=) c.4988A= (p.Asn1663=) c.4613A= (p.Asn1538=) c.5420A= (p.Asn1807=) c.5522A= (p.Asn1841=) c.5465A= (p.Asn1822=) c.5441A= (p.Asn1814=) c.5396A= (p.Asn1799=) | |
3 | g.53801287A>C | CA353250878 | CACNA1D | c.5330A>C (p.Asn1777Thr) n.2269A>C n.705A>C c.5270A>C (p.Asn1757Thr) c.5225A>C (p.Asn1742Thr) c.1391A>C n.626A>C n.697A>C c.5297A>C (p.Asn1766Thr) n.24A>C c.4349A>C (p.Asn1450Thr) c.5525A>C (p.Asn1842Thr) c.5414A>C (p.Asn1805Thr) c.5336A>C (p.Asn1779Thr) c.4988A>C (p.Asn1663Thr) c.4613A>C (p.Asn1538Thr) c.5420A>C (p.Asn1807Thr) c.5522A>C (p.Asn1841Thr) c.5465A>C (p.Asn1822Thr) c.5441A>C (p.Asn1814Thr) c.5396A>C (p.Asn1799Thr) | |
3 | g.53801287A>G | CA2455092 | CACNA1D | c.5330A>G (p.Asn1777Ser) n.2269A>G n.705A>G c.5270A>G (p.Asn1757Ser) c.5225A>G (p.Asn1742Ser) c.1391A>G n.626A>G n.697A>G c.5297A>G (p.Asn1766Ser) n.24A>G c.4349A>G (p.Asn1450Ser) c.5525A>G (p.Asn1842Ser) c.5414A>G (p.Asn1805Ser) c.5336A>G (p.Asn1779Ser) c.4988A>G (p.Asn1663Ser) c.4613A>G (p.Asn1538Ser) c.5420A>G (p.Asn1807Ser) c.5522A>G (p.Asn1841Ser) c.5465A>G (p.Asn1822Ser) c.5441A>G (p.Asn1814Ser) c.5396A>G (p.Asn1799Ser) | dbSNP ExAC gnomAD v2 |
3 | g.53801287A>T | CA353250881 | CACNA1D | c.5330A>T (p.Asn1777Ile) n.2269A>T n.705A>T c.5270A>T (p.Asn1757Ile) c.5225A>T (p.Asn1742Ile) c.1391A>T n.626A>T n.697A>T c.5297A>T (p.Asn1766Ile) n.24A>T c.4349A>T (p.Asn1450Ile) c.5525A>T (p.Asn1842Ile) c.5414A>T (p.Asn1805Ile) c.5336A>T (p.Asn1779Ile) c.4988A>T (p.Asn1663Ile) c.4613A>T (p.Asn1538Ile) c.5420A>T (p.Asn1807Ile) c.5522A>T (p.Asn1841Ile) c.5465A>T (p.Asn1822Ile) c.5441A>T (p.Asn1814Ile) c.5396A>T (p.Asn1799Ile) | |
3 | g.53801288T>A | CA353250883 | CACNA1D | c.5331T>A (p.Asn1777Lys) n.2270T>A n.706T>A c.5271T>A (p.Asn1757Lys) c.5226T>A (p.Asn1742Lys) c.1392T>A n.627T>A n.698T>A c.5298T>A (p.Asn1766Lys) n.25T>A c.4350T>A (p.Asn1450Lys) c.5526T>A (p.Asn1842Lys) c.5415T>A (p.Asn1805Lys) c.5337T>A (p.Asn1779Lys) c.4989T>A (p.Asn1663Lys) c.4614T>A (p.Asn1538Lys) c.5421T>A (p.Asn1807Lys) c.5523T>A (p.Asn1841Lys) c.5466T>A (p.Asn1822Lys) c.5442T>A (p.Asn1814Lys) c.5397T>A (p.Asn1799Lys) | |
3 | g.53801288T>C | CA433896169 | CACNA1D | c.5331T>C (p.Asn1777=) n.2270T>C n.706T>C c.5271T>C (p.Asn1757=) c.5226T>C (p.Asn1742=) c.1392T>C n.627T>C n.698T>C c.5298T>C (p.Asn1766=) n.25T>C c.4350T>C (p.Asn1450=) c.5526T>C (p.Asn1842=) c.5415T>C (p.Asn1805=) c.5337T>C (p.Asn1779=) c.4989T>C (p.Asn1663=) c.4614T>C (p.Asn1538=) c.5421T>C (p.Asn1807=) c.5523T>C (p.Asn1841=) c.5466T>C (p.Asn1822=) c.5442T>C (p.Asn1814=) c.5397T>C (p.Asn1799=) | |
3 | g.53801288T>G | CA353250885 | CACNA1D | c.5331T>G (p.Asn1777Lys) n.2270T>G n.706T>G c.5271T>G (p.Asn1757Lys) c.5226T>G (p.Asn1742Lys) c.1392T>G n.627T>G n.698T>G c.5298T>G (p.Asn1766Lys) n.25T>G c.4350T>G (p.Asn1450Lys) c.5526T>G (p.Asn1842Lys) c.5415T>G (p.Asn1805Lys) c.5337T>G (p.Asn1779Lys) c.4989T>G (p.Asn1663Lys) c.4614T>G (p.Asn1538Lys) c.5421T>G (p.Asn1807Lys) c.5523T>G (p.Asn1841Lys) c.5466T>G (p.Asn1822Lys) c.5442T>G (p.Asn1814Lys) c.5397T>G (p.Asn1799Lys) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.53801288T= | CA1365484188 | CACNA1D | c.5331T= (p.Asn1777=) n.2270T= n.706T= c.5271T= (p.Asn1757=) c.5226T= (p.Asn1742=) c.1392T= n.627T= n.698T= c.5298T= (p.Asn1766=) n.25T= c.4350T= (p.Asn1450=) c.5526T= (p.Asn1842=) c.5415T= (p.Asn1805=) c.5337T= (p.Asn1779=) c.4989T= (p.Asn1663=) c.4614T= (p.Asn1538=) c.5421T= (p.Asn1807=) c.5523T= (p.Asn1841=) c.5466T= (p.Asn1822=) c.5442T= (p.Asn1814=) c.5397T= (p.Asn1799=) | |
3 | g.53801289C>A | CA353250888 | CACNA1D | c.5332C>A (p.Leu1778Ile) n.2271C>A n.707C>A c.5272C>A (p.Leu1758Ile) c.5227C>A (p.Leu1743Ile) c.1393C>A n.628C>A n.699C>A c.5299C>A (p.Leu1767Ile) n.26C>A c.4351C>A (p.Leu1451Ile) c.5527C>A (p.Leu1843Ile) c.5416C>A (p.Leu1806Ile) c.5338C>A (p.Leu1780Ile) c.4990C>A (p.Leu1664Ile) c.4615C>A (p.Leu1539Ile) c.5422C>A (p.Leu1808Ile) c.5524C>A (p.Leu1842Ile) c.5467C>A (p.Leu1823Ile) c.5443C>A (p.Leu1815Ile) c.5398C>A (p.Leu1800Ile) | |
3 | g.53801289C>G | CA353250889 | CACNA1D | c.5332C>G (p.Leu1778Val) n.2271C>G n.707C>G c.5272C>G (p.Leu1758Val) c.5227C>G (p.Leu1743Val) c.1393C>G n.628C>G n.699C>G c.5299C>G (p.Leu1767Val) n.26C>G c.4351C>G (p.Leu1451Val) c.5527C>G (p.Leu1843Val) c.5416C>G (p.Leu1806Val) c.5338C>G (p.Leu1780Val) c.4990C>G (p.Leu1664Val) c.4615C>G (p.Leu1539Val) c.5422C>G (p.Leu1808Val) c.5524C>G (p.Leu1842Val) c.5467C>G (p.Leu1823Val) c.5443C>G (p.Leu1815Val) c.5398C>G (p.Leu1800Val) | |
3 | g.53801289C>T | CA353250890 | CACNA1D | c.5332C>T (p.Leu1778Phe) n.2271C>T n.707C>T c.5272C>T (p.Leu1758Phe) c.5227C>T (p.Leu1743Phe) c.1393C>T n.628C>T n.699C>T c.5299C>T (p.Leu1767Phe) n.26C>T c.4351C>T (p.Leu1451Phe) c.5527C>T (p.Leu1843Phe) c.5416C>T (p.Leu1806Phe) c.5338C>T (p.Leu1780Phe) c.4990C>T (p.Leu1664Phe) c.4615C>T (p.Leu1539Phe) c.5422C>T (p.Leu1808Phe) c.5524C>T (p.Leu1842Phe) c.5467C>T (p.Leu1823Phe) c.5443C>T (p.Leu1815Phe) c.5398C>T (p.Leu1800Phe) | |
3 | g.53801290T>A | CA353250892 | CACNA1D | c.5333T>A (p.Leu1778His) n.2272T>A n.708T>A c.5273T>A (p.Leu1758His) c.5228T>A (p.Leu1743His) c.1394T>A n.629T>A n.700T>A c.5300T>A (p.Leu1767His) n.27T>A c.4352T>A (p.Leu1451His) c.5528T>A (p.Leu1843His) c.5417T>A (p.Leu1806His) c.5339T>A (p.Leu1780His) c.4991T>A (p.Leu1664His) c.4616T>A (p.Leu1539His) c.5423T>A (p.Leu1808His) c.5525T>A (p.Leu1842His) c.5468T>A (p.Leu1823His) c.5444T>A (p.Leu1815His) c.5399T>A (p.Leu1800His) | |
3 | g.53801290T>C | CA353250894 | CACNA1D | c.5333T>C (p.Leu1778Pro) n.2272T>C n.708T>C c.5273T>C (p.Leu1758Pro) c.5228T>C (p.Leu1743Pro) c.1394T>C n.629T>C n.700T>C c.5300T>C (p.Leu1767Pro) n.27T>C c.4352T>C (p.Leu1451Pro) c.5528T>C (p.Leu1843Pro) c.5417T>C (p.Leu1806Pro) c.5339T>C (p.Leu1780Pro) c.4991T>C (p.Leu1664Pro) c.4616T>C (p.Leu1539Pro) c.5423T>C (p.Leu1808Pro) c.5525T>C (p.Leu1842Pro) c.5468T>C (p.Leu1823Pro) c.5444T>C (p.Leu1815Pro) c.5399T>C (p.Leu1800Pro) | |
3 | g.53801290T>G | CA353250896 | CACNA1D | c.5333T>G (p.Leu1778Arg) n.2272T>G n.708T>G c.5273T>G (p.Leu1758Arg) c.5228T>G (p.Leu1743Arg) c.1394T>G n.629T>G n.700T>G c.5300T>G (p.Leu1767Arg) n.27T>G c.4352T>G (p.Leu1451Arg) c.5528T>G (p.Leu1843Arg) c.5417T>G (p.Leu1806Arg) c.5339T>G (p.Leu1780Arg) c.4991T>G (p.Leu1664Arg) c.4616T>G (p.Leu1539Arg) c.5423T>G (p.Leu1808Arg) c.5525T>G (p.Leu1842Arg) c.5468T>G (p.Leu1823Arg) c.5444T>G (p.Leu1815Arg) c.5399T>G (p.Leu1800Arg) | |
3 | g.53801291C>A | CA433896170 | CACNA1D | c.5334C>A (p.Leu1778=) n.2273C>A n.709C>A c.5274C>A (p.Leu1758=) c.5229C>A (p.Leu1743=) c.1395C>A n.630C>A n.701C>A c.5301C>A (p.Leu1767=) n.28C>A c.4353C>A (p.Leu1451=) c.5529C>A (p.Leu1843=) c.5418C>A (p.Leu1806=) c.5340C>A (p.Leu1780=) c.4992C>A (p.Leu1664=) c.4617C>A (p.Leu1539=) c.5424C>A (p.Leu1808=) c.5526C>A (p.Leu1842=) c.5469C>A (p.Leu1823=) c.5445C>A (p.Leu1815=) c.5400C>A (p.Leu1800=) | |
3 | g.53801291C>G | CA433896172 | CACNA1D | c.5334C>G (p.Leu1778=) n.2273C>G n.709C>G c.5274C>G (p.Leu1758=) c.5229C>G (p.Leu1743=) c.1395C>G n.630C>G n.701C>G c.5301C>G (p.Leu1767=) n.28C>G c.4353C>G (p.Leu1451=) c.5529C>G (p.Leu1843=) c.5418C>G (p.Leu1806=) c.5340C>G (p.Leu1780=) c.4992C>G (p.Leu1664=) c.4617C>G (p.Leu1539=) c.5424C>G (p.Leu1808=) c.5526C>G (p.Leu1842=) c.5469C>G (p.Leu1823=) c.5445C>G (p.Leu1815=) c.5400C>G (p.Leu1800=) | |
3 | g.53801291C>T | CA433896171 | CACNA1D | c.5334C>T (p.Leu1778=) n.2273C>T n.709C>T c.5274C>T (p.Leu1758=) c.5229C>T (p.Leu1743=) c.1395C>T n.630C>T n.701C>T c.5301C>T (p.Leu1767=) n.28C>T c.4353C>T (p.Leu1451=) c.5529C>T (p.Leu1843=) c.5418C>T (p.Leu1806=) c.5340C>T (p.Leu1780=) c.4992C>T (p.Leu1664=) c.4617C>T (p.Leu1539=) c.5424C>T (p.Leu1808=) c.5526C>T (p.Leu1842=) c.5469C>T (p.Leu1823=) c.5445C>T (p.Leu1815=) c.5400C>T (p.Leu1800=) | |
3 | g.53801292A>C | CA353250898 | CACNA1D | c.5335A>C (p.Asn1779His) n.2274A>C n.710A>C c.5275A>C (p.Asn1759His) c.5230A>C (p.Asn1744His) c.1396A>C n.631A>C n.702A>C c.5302A>C (p.Asn1768His) n.29A>C c.4354A>C (p.Asn1452His) c.5530A>C (p.Asn1844His) c.5419A>C (p.Asn1807His) c.5341A>C (p.Asn1781His) c.4993A>C (p.Asn1665His) c.4618A>C (p.Asn1540His) c.5425A>C (p.Asn1809His) c.5527A>C (p.Asn1843His) c.5470A>C (p.Asn1824His) c.5446A>C (p.Asn1816His) c.5401A>C (p.Asn1801His) | gnomAD v4 |
3 | g.53801292A>G | CA353250900 | CACNA1D | c.5335A>G (p.Asn1779Asp) n.2274A>G n.710A>G c.5275A>G (p.Asn1759Asp) c.5230A>G (p.Asn1744Asp) c.1396A>G n.631A>G n.702A>G c.5302A>G (p.Asn1768Asp) n.29A>G c.4354A>G (p.Asn1452Asp) c.5530A>G (p.Asn1844Asp) c.5419A>G (p.Asn1807Asp) c.5341A>G (p.Asn1781Asp) c.4993A>G (p.Asn1665Asp) c.4618A>G (p.Asn1540Asp) c.5425A>G (p.Asn1809Asp) c.5527A>G (p.Asn1843Asp) c.5470A>G (p.Asn1824Asp) c.5446A>G (p.Asn1816Asp) c.5401A>G (p.Asn1801Asp) | |
3 | g.53801292A>T | CA353250902 | CACNA1D | c.5335A>T (p.Asn1779Tyr) n.2274A>T n.710A>T c.5275A>T (p.Asn1759Tyr) c.5230A>T (p.Asn1744Tyr) c.1396A>T n.631A>T n.702A>T c.5302A>T (p.Asn1768Tyr) n.29A>T c.4354A>T (p.Asn1452Tyr) c.5530A>T (p.Asn1844Tyr) c.5419A>T (p.Asn1807Tyr) c.5341A>T (p.Asn1781Tyr) c.4993A>T (p.Asn1665Tyr) c.4618A>T (p.Asn1540Tyr) c.5425A>T (p.Asn1809Tyr) c.5527A>T (p.Asn1843Tyr) c.5470A>T (p.Asn1824Tyr) c.5446A>T (p.Asn1816Tyr) c.5401A>T (p.Asn1801Tyr) | |
3 | g.53801293A= | CA1365484189 | CACNA1D | c.5336A= (p.Asn1779=) n.2275A= n.711A= c.5276A= (p.Asn1759=) c.5231A= (p.Asn1744=) c.1397A= n.632A= n.703A= c.5303A= (p.Asn1768=) n.30A= c.4355A= (p.Asn1452=) c.5531A= (p.Asn1844=) c.5420A= (p.Asn1807=) c.5342A= (p.Asn1781=) c.4994A= (p.Asn1665=) c.4619A= (p.Asn1540=) c.5426A= (p.Asn1809=) c.5528A= (p.Asn1843=) c.5471A= (p.Asn1824=) c.5447A= (p.Asn1816=) c.5402A= (p.Asn1801=) | |
3 | g.53801293A>C | CA353250906 | CACNA1D | c.5336A>C (p.Asn1779Thr) n.2275A>C n.711A>C c.5276A>C (p.Asn1759Thr) c.5231A>C (p.Asn1744Thr) c.1397A>C n.632A>C n.703A>C c.5303A>C (p.Asn1768Thr) n.30A>C c.4355A>C (p.Asn1452Thr) c.5531A>C (p.Asn1844Thr) c.5420A>C (p.Asn1807Thr) c.5342A>C (p.Asn1781Thr) c.4994A>C (p.Asn1665Thr) c.4619A>C (p.Asn1540Thr) c.5426A>C (p.Asn1809Thr) c.5528A>C (p.Asn1843Thr) c.5471A>C (p.Asn1824Thr) c.5447A>C (p.Asn1816Thr) c.5402A>C (p.Asn1801Thr) | |
3 | g.53801293A>G | CA353250908 | CACNA1D | c.5336A>G (p.Asn1779Ser) n.2275A>G n.711A>G c.5276A>G (p.Asn1759Ser) c.5231A>G (p.Asn1744Ser) c.1397A>G n.632A>G n.703A>G c.5303A>G (p.Asn1768Ser) n.30A>G c.4355A>G (p.Asn1452Ser) c.5531A>G (p.Asn1844Ser) c.5420A>G (p.Asn1807Ser) c.5342A>G (p.Asn1781Ser) c.4994A>G (p.Asn1665Ser) c.4619A>G (p.Asn1540Ser) c.5426A>G (p.Asn1809Ser) c.5528A>G (p.Asn1843Ser) c.5471A>G (p.Asn1824Ser) c.5447A>G (p.Asn1816Ser) c.5402A>G (p.Asn1801Ser) | ClinVar dbSNP gnomAD v4 |
3 | g.53801293A>T | CA353250904 | CACNA1D | c.5336A>T (p.Asn1779Ile) n.2275A>T n.711A>T c.5276A>T (p.Asn1759Ile) c.5231A>T (p.Asn1744Ile) c.1397A>T n.632A>T n.703A>T c.5303A>T (p.Asn1768Ile) n.30A>T c.4355A>T (p.Asn1452Ile) c.5531A>T (p.Asn1844Ile) c.5420A>T (p.Asn1807Ile) c.5342A>T (p.Asn1781Ile) c.4994A>T (p.Asn1665Ile) c.4619A>T (p.Asn1540Ile) c.5426A>T (p.Asn1809Ile) c.5528A>T (p.Asn1843Ile) c.5471A>T (p.Asn1824Ile) c.5447A>T (p.Asn1816Ile) c.5402A>T (p.Asn1801Ile) | |
3 | g.53801294T>A | CA353250910 | CACNA1D | c.5337T>A (p.Asn1779Lys) n.2276T>A n.712T>A c.5277T>A (p.Asn1759Lys) c.5232T>A (p.Asn1744Lys) c.1398T>A n.633T>A n.704T>A c.5304T>A (p.Asn1768Lys) n.31T>A c.4356T>A (p.Asn1452Lys) c.5532T>A (p.Asn1844Lys) c.5421T>A (p.Asn1807Lys) c.5343T>A (p.Asn1781Lys) c.4995T>A (p.Asn1665Lys) c.4620T>A (p.Asn1540Lys) c.5427T>A (p.Asn1809Lys) c.5529T>A (p.Asn1843Lys) c.5472T>A (p.Asn1824Lys) c.5448T>A (p.Asn1816Lys) c.5403T>A (p.Asn1801Lys) | |
3 | g.53801294T>C | CA433896173 | CACNA1D | c.5337T>C (p.Asn1779=) n.2276T>C n.712T>C c.5277T>C (p.Asn1759=) c.5232T>C (p.Asn1744=) c.1398T>C n.633T>C n.704T>C c.5304T>C (p.Asn1768=) n.31T>C c.4356T>C (p.Asn1452=) c.5532T>C (p.Asn1844=) c.5421T>C (p.Asn1807=) c.5343T>C (p.Asn1781=) c.4995T>C (p.Asn1665=) c.4620T>C (p.Asn1540=) c.5427T>C (p.Asn1809=) c.5529T>C (p.Asn1843=) c.5472T>C (p.Asn1824=) c.5448T>C (p.Asn1816=) c.5403T>C (p.Asn1801=) | |
3 | g.53801294T>G | CA353250912 | CACNA1D | c.5337T>G (p.Asn1779Lys) n.2276T>G n.712T>G c.5277T>G (p.Asn1759Lys) c.5232T>G (p.Asn1744Lys) c.1398T>G n.633T>G n.704T>G c.5304T>G (p.Asn1768Lys) n.31T>G c.4356T>G (p.Asn1452Lys) c.5532T>G (p.Asn1844Lys) c.5421T>G (p.Asn1807Lys) c.5343T>G (p.Asn1781Lys) c.4995T>G (p.Asn1665Lys) c.4620T>G (p.Asn1540Lys) c.5427T>G (p.Asn1809Lys) c.5529T>G (p.Asn1843Lys) c.5472T>G (p.Asn1824Lys) c.5448T>G (p.Asn1816Lys) c.5403T>G (p.Asn1801Lys) | |
3 | g.53801295A>C | CA353250914 | CACNA1D | c.5338A>C (p.Asn1780His) n.2277A>C n.713A>C c.5278A>C (p.Asn1760His) c.5233A>C (p.Asn1745His) c.1399A>C n.634A>C n.705A>C c.5305A>C (p.Asn1769His) n.32A>C c.4357A>C (p.Asn1453His) c.5533A>C (p.Asn1845His) c.5422A>C (p.Asn1808His) c.5344A>C (p.Asn1782His) c.4996A>C (p.Asn1666His) c.4621A>C (p.Asn1541His) c.5428A>C (p.Asn1810His) c.5530A>C (p.Asn1844His) c.5473A>C (p.Asn1825His) c.5449A>C (p.Asn1817His) c.5404A>C (p.Asn1802His) | |
3 | g.53801295A>G | CA353250916 | CACNA1D | c.5338A>G (p.Asn1780Asp) n.2277A>G n.713A>G c.5278A>G (p.Asn1760Asp) c.5233A>G (p.Asn1745Asp) c.1399A>G n.634A>G n.705A>G c.5305A>G (p.Asn1769Asp) n.32A>G c.4357A>G (p.Asn1453Asp) c.5533A>G (p.Asn1845Asp) c.5422A>G (p.Asn1808Asp) c.5344A>G (p.Asn1782Asp) c.4996A>G (p.Asn1666Asp) c.4621A>G (p.Asn1541Asp) c.5428A>G (p.Asn1810Asp) c.5530A>G (p.Asn1844Asp) c.5473A>G (p.Asn1825Asp) c.5449A>G (p.Asn1817Asp) c.5404A>G (p.Asn1802Asp) | |
3 | g.53801295A>T | CA353250918 | CACNA1D | c.5338A>T (p.Asn1780Tyr) n.2277A>T n.713A>T c.5278A>T (p.Asn1760Tyr) c.5233A>T (p.Asn1745Tyr) c.1399A>T n.634A>T n.705A>T c.5305A>T (p.Asn1769Tyr) n.32A>T c.4357A>T (p.Asn1453Tyr) c.5533A>T (p.Asn1845Tyr) c.5422A>T (p.Asn1808Tyr) c.5344A>T (p.Asn1782Tyr) c.4996A>T (p.Asn1666Tyr) c.4621A>T (p.Asn1541Tyr) c.5428A>T (p.Asn1810Tyr) c.5530A>T (p.Asn1844Tyr) c.5473A>T (p.Asn1825Tyr) c.5449A>T (p.Asn1817Tyr) c.5404A>T (p.Asn1802Tyr) | |
3 | g.53801296A>C | CA353250920 | CACNA1D | c.5339A>C (p.Asn1780Thr) n.2278A>C n.714A>C c.5279A>C (p.Asn1760Thr) c.5234A>C (p.Asn1745Thr) c.1400A>C n.635A>C n.706A>C c.5306A>C (p.Asn1769Thr) n.33A>C c.4358A>C (p.Asn1453Thr) c.5534A>C (p.Asn1845Thr) c.5423A>C (p.Asn1808Thr) c.5345A>C (p.Asn1782Thr) c.4997A>C (p.Asn1666Thr) c.4622A>C (p.Asn1541Thr) c.5429A>C (p.Asn1810Thr) c.5531A>C (p.Asn1844Thr) c.5474A>C (p.Asn1825Thr) c.5450A>C (p.Asn1817Thr) c.5405A>C (p.Asn1802Thr) | |
3 | g.53801296A>G | CA353250922 | CACNA1D | c.5339A>G (p.Asn1780Ser) n.2278A>G n.714A>G c.5279A>G (p.Asn1760Ser) c.5234A>G (p.Asn1745Ser) c.1400A>G n.635A>G n.706A>G c.5306A>G (p.Asn1769Ser) n.33A>G c.4358A>G (p.Asn1453Ser) c.5534A>G (p.Asn1845Ser) c.5423A>G (p.Asn1808Ser) c.5345A>G (p.Asn1782Ser) c.4997A>G (p.Asn1666Ser) c.4622A>G (p.Asn1541Ser) c.5429A>G (p.Asn1810Ser) c.5531A>G (p.Asn1844Ser) c.5474A>G (p.Asn1825Ser) c.5450A>G (p.Asn1817Ser) c.5405A>G (p.Asn1802Ser) | |
3 | g.53801296A>T | CA353250924 | CACNA1D | c.5339A>T (p.Asn1780Ile) n.2278A>T n.714A>T c.5279A>T (p.Asn1760Ile) c.5234A>T (p.Asn1745Ile) c.1400A>T n.635A>T n.706A>T c.5306A>T (p.Asn1769Ile) n.33A>T c.4358A>T (p.Asn1453Ile) c.5534A>T (p.Asn1845Ile) c.5423A>T (p.Asn1808Ile) c.5345A>T (p.Asn1782Ile) c.4997A>T (p.Asn1666Ile) c.4622A>T (p.Asn1541Ile) c.5429A>T (p.Asn1810Ile) c.5531A>T (p.Asn1844Ile) c.5474A>T (p.Asn1825Ile) c.5450A>T (p.Asn1817Ile) c.5405A>T (p.Asn1802Ile) | |
3 | g.53801297T>A | CA353250926 | CACNA1D | c.5340T>A (p.Asn1780Lys) n.2279T>A n.715T>A c.5280T>A (p.Asn1760Lys) c.5235T>A (p.Asn1745Lys) c.1401T>A n.636T>A n.707T>A c.5307T>A (p.Asn1769Lys) n.34T>A c.4359T>A (p.Asn1453Lys) c.5535T>A (p.Asn1845Lys) c.5424T>A (p.Asn1808Lys) c.5346T>A (p.Asn1782Lys) c.4998T>A (p.Asn1666Lys) c.4623T>A (p.Asn1541Lys) c.5430T>A (p.Asn1810Lys) c.5532T>A (p.Asn1844Lys) c.5475T>A (p.Asn1825Lys) c.5451T>A (p.Asn1817Lys) c.5406T>A (p.Asn1802Lys) | |
3 | g.53801297T>C | CA433896174 | CACNA1D | c.5340T>C (p.Asn1780=) n.2279T>C n.715T>C c.5280T>C (p.Asn1760=) c.5235T>C (p.Asn1745=) c.1401T>C n.636T>C n.707T>C c.5307T>C (p.Asn1769=) n.34T>C c.4359T>C (p.Asn1453=) c.5535T>C (p.Asn1845=) c.5424T>C (p.Asn1808=) c.5346T>C (p.Asn1782=) c.4998T>C (p.Asn1666=) c.4623T>C (p.Asn1541=) c.5430T>C (p.Asn1810=) c.5532T>C (p.Asn1844=) c.5475T>C (p.Asn1825=) c.5451T>C (p.Asn1817=) c.5406T>C (p.Asn1802=) | |
3 | g.53801297T>G | CA353250928 | CACNA1D | c.5340T>G (p.Asn1780Lys) n.2279T>G n.715T>G c.5280T>G (p.Asn1760Lys) c.5235T>G (p.Asn1745Lys) c.1401T>G n.636T>G n.707T>G c.5307T>G (p.Asn1769Lys) n.34T>G c.4359T>G (p.Asn1453Lys) c.5535T>G (p.Asn1845Lys) c.5424T>G (p.Asn1808Lys) c.5346T>G (p.Asn1782Lys) c.4998T>G (p.Asn1666Lys) c.4623T>G (p.Asn1541Lys) c.5430T>G (p.Asn1810Lys) c.5532T>G (p.Asn1844Lys) c.5475T>G (p.Asn1825Lys) c.5451T>G (p.Asn1817Lys) c.5406T>G (p.Asn1802Lys) | |
3 | g.53801298G>A | CA353250931 | CACNA1D | c.5341G>A (p.Ala1781Thr) n.2280G>A n.716G>A c.5281G>A (p.Ala1761Thr) c.5236G>A (p.Ala1746Thr) c.1402G>A n.637G>A n.708G>A c.5308G>A (p.Ala1770Thr) n.35G>A c.4360G>A (p.Ala1454Thr) c.5536G>A (p.Ala1846Thr) c.5425G>A (p.Ala1809Thr) c.5347G>A (p.Ala1783Thr) c.4999G>A (p.Ala1667Thr) c.4624G>A (p.Ala1542Thr) c.5431G>A (p.Ala1811Thr) c.5533G>A (p.Ala1845Thr) c.5476G>A (p.Ala1826Thr) c.5452G>A (p.Ala1818Thr) c.5407G>A (p.Ala1803Thr) | dbSNP |
3 | g.53801298G>C | CA353250932 | CACNA1D | c.5341G>C (p.Ala1781Pro) n.2280G>C n.716G>C c.5281G>C (p.Ala1761Pro) c.5236G>C (p.Ala1746Pro) c.1402G>C n.637G>C n.708G>C c.5308G>C (p.Ala1770Pro) n.35G>C c.4360G>C (p.Ala1454Pro) c.5536G>C (p.Ala1846Pro) c.5425G>C (p.Ala1809Pro) c.5347G>C (p.Ala1783Pro) c.4999G>C (p.Ala1667Pro) c.4624G>C (p.Ala1542Pro) c.5431G>C (p.Ala1811Pro) c.5533G>C (p.Ala1845Pro) c.5476G>C (p.Ala1826Pro) c.5452G>C (p.Ala1818Pro) c.5407G>C (p.Ala1803Pro) | |
3 | g.53801298G= | CA1365484190 | CACNA1D | c.5341G= (p.Ala1781=) n.2280G= n.716G= c.5281G= (p.Ala1761=) c.5236G= (p.Ala1746=) c.1402G= n.637G= n.708G= c.5308G= (p.Ala1770=) n.35G= c.4360G= (p.Ala1454=) c.5536G= (p.Ala1846=) c.5425G= (p.Ala1809=) c.5347G= (p.Ala1783=) c.4999G= (p.Ala1667=) c.4624G= (p.Ala1542=) c.5431G= (p.Ala1811=) c.5533G= (p.Ala1845=) c.5476G= (p.Ala1826=) c.5452G= (p.Ala1818=) c.5407G= (p.Ala1803=) | |
3 | g.53801298G>T | CA353250935 | CACNA1D | c.5341G>T (p.Ala1781Ser) n.2280G>T n.716G>T c.5281G>T (p.Ala1761Ser) c.5236G>T (p.Ala1746Ser) c.1402G>T n.637G>T n.708G>T c.5308G>T (p.Ala1770Ser) n.35G>T c.4360G>T (p.Ala1454Ser) c.5536G>T (p.Ala1846Ser) c.5425G>T (p.Ala1809Ser) c.5347G>T (p.Ala1783Ser) c.4999G>T (p.Ala1667Ser) c.4624G>T (p.Ala1542Ser) c.5431G>T (p.Ala1811Ser) c.5533G>T (p.Ala1845Ser) c.5476G>T (p.Ala1826Ser) c.5452G>T (p.Ala1818Ser) c.5407G>T (p.Ala1803Ser) | |
3 | g.53801299C>A | CA353250941 | CACNA1D | c.5342C>A (p.Ala1781Asp) n.2281C>A n.717C>A c.5282C>A (p.Ala1761Asp) c.5237C>A (p.Ala1746Asp) c.1403C>A n.638C>A n.709C>A c.5309C>A (p.Ala1770Asp) n.36C>A c.4361C>A (p.Ala1454Asp) c.5537C>A (p.Ala1846Asp) c.5426C>A (p.Ala1809Asp) c.5348C>A (p.Ala1783Asp) c.5000C>A (p.Ala1667Asp) c.4625C>A (p.Ala1542Asp) c.5432C>A (p.Ala1811Asp) c.5534C>A (p.Ala1845Asp) c.5477C>A (p.Ala1826Asp) c.5453C>A (p.Ala1818Asp) c.5408C>A (p.Ala1803Asp) | |
3 | g.53801299C>G | CA353250937 | CACNA1D | c.5342C>G (p.Ala1781Gly) n.2281C>G n.717C>G c.5282C>G (p.Ala1761Gly) c.5237C>G (p.Ala1746Gly) c.1403C>G n.638C>G n.709C>G c.5309C>G (p.Ala1770Gly) n.36C>G c.4361C>G (p.Ala1454Gly) c.5537C>G (p.Ala1846Gly) c.5426C>G (p.Ala1809Gly) c.5348C>G (p.Ala1783Gly) c.5000C>G (p.Ala1667Gly) c.4625C>G (p.Ala1542Gly) c.5432C>G (p.Ala1811Gly) c.5534C>G (p.Ala1845Gly) c.5477C>G (p.Ala1826Gly) c.5453C>G (p.Ala1818Gly) c.5408C>G (p.Ala1803Gly) | |
3 | g.53801299C>T | CA353250939 | CACNA1D | c.5342C>T (p.Ala1781Val) n.2281C>T n.717C>T c.5282C>T (p.Ala1761Val) c.5237C>T (p.Ala1746Val) c.1403C>T n.638C>T n.709C>T c.5309C>T (p.Ala1770Val) n.36C>T c.4361C>T (p.Ala1454Val) c.5537C>T (p.Ala1846Val) c.5426C>T (p.Ala1809Val) c.5348C>T (p.Ala1783Val) c.5000C>T (p.Ala1667Val) c.4625C>T (p.Ala1542Val) c.5432C>T (p.Ala1811Val) c.5534C>T (p.Ala1845Val) c.5477C>T (p.Ala1826Val) c.5453C>T (p.Ala1818Val) c.5408C>T (p.Ala1803Val) | |
3 | g.53801300C>A | CA433896175 | CACNA1D | c.5343C>A (p.Ala1781=) n.2282C>A n.718C>A c.5283C>A (p.Ala1761=) c.5238C>A (p.Ala1746=) c.1404C>A n.639C>A n.710C>A c.5310C>A (p.Ala1770=) n.37C>A c.4362C>A (p.Ala1454=) c.5538C>A (p.Ala1846=) c.5427C>A (p.Ala1809=) c.5349C>A (p.Ala1783=) c.5001C>A (p.Ala1667=) c.4626C>A (p.Ala1542=) c.5433C>A (p.Ala1811=) c.5535C>A (p.Ala1845=) c.5478C>A (p.Ala1826=) c.5454C>A (p.Ala1818=) c.5409C>A (p.Ala1803=) | |
3 | g.53801300C= | CA1365484191 | CACNA1D | c.5343C= (p.Ala1781=) n.2282C= n.718C= c.5283C= (p.Ala1761=) c.5238C= (p.Ala1746=) c.1404C= n.639C= n.710C= c.5310C= (p.Ala1770=) n.37C= c.4362C= (p.Ala1454=) c.5538C= (p.Ala1846=) c.5427C= (p.Ala1809=) c.5349C= (p.Ala1783=) c.5001C= (p.Ala1667=) c.4626C= (p.Ala1542=) c.5433C= (p.Ala1811=) c.5535C= (p.Ala1845=) c.5478C= (p.Ala1826=) c.5454C= (p.Ala1818=) c.5409C= (p.Ala1803=) | |
3 | g.53801300C>G | CA433896176 | CACNA1D | c.5343C>G (p.Ala1781=) n.2282C>G n.718C>G c.5283C>G (p.Ala1761=) c.5238C>G (p.Ala1746=) c.1404C>G n.639C>G n.710C>G c.5310C>G (p.Ala1770=) n.37C>G c.4362C>G (p.Ala1454=) c.5538C>G (p.Ala1846=) c.5427C>G (p.Ala1809=) c.5349C>G (p.Ala1783=) c.5001C>G (p.Ala1667=) c.4626C>G (p.Ala1542=) c.5433C>G (p.Ala1811=) c.5535C>G (p.Ala1845=) c.5478C>G (p.Ala1826=) c.5454C>G (p.Ala1818=) c.5409C>G (p.Ala1803=) | |
3 | g.53801300C>T | CA2455093 | CACNA1D | c.5343C>T (p.Ala1781=) n.2282C>T n.718C>T c.5283C>T (p.Ala1761=) c.5238C>T (p.Ala1746=) c.1404C>T n.639C>T n.710C>T c.5310C>T (p.Ala1770=) n.37C>T c.4362C>T (p.Ala1454=) c.5538C>T (p.Ala1846=) c.5427C>T (p.Ala1809=) c.5349C>T (p.Ala1783=) c.5001C>T (p.Ala1667=) c.4626C>T (p.Ala1542=) c.5433C>T (p.Ala1811=) c.5535C>T (p.Ala1845=) c.5478C>T (p.Ala1826=) c.5454C>T (p.Ala1818=) c.5409C>T (p.Ala1803=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.53801301A= | CA1365484192 | CACNA1D | c.5344A= (p.Asn1782=) n.2283A= n.719A= c.5284A= (p.Asn1762=) c.5239A= (p.Asn1747=) c.1405A= n.640A= n.711A= c.5311A= (p.Asn1771=) n.38A= c.4363A= (p.Asn1455=) c.5539A= (p.Asn1847=) c.5428A= (p.Asn1810=) c.5350A= (p.Asn1784=) c.5002A= (p.Asn1668=) c.4627A= (p.Asn1543=) c.5434A= (p.Asn1812=) c.5536A= (p.Asn1846=) c.5479A= (p.Asn1827=) c.5455A= (p.Asn1819=) c.5410A= (p.Asn1804=) | |
3 | g.53801301A>C | CA353250945 | CACNA1D | c.5344A>C (p.Asn1782His) n.2283A>C n.719A>C c.5284A>C (p.Asn1762His) c.5239A>C (p.Asn1747His) c.1405A>C n.640A>C n.711A>C c.5311A>C (p.Asn1771His) n.38A>C c.4363A>C (p.Asn1455His) c.5539A>C (p.Asn1847His) c.5428A>C (p.Asn1810His) c.5350A>C (p.Asn1784His) c.5002A>C (p.Asn1668His) c.4627A>C (p.Asn1543His) c.5434A>C (p.Asn1812His) c.5536A>C (p.Asn1846His) c.5479A>C (p.Asn1827His) c.5455A>C (p.Asn1819His) c.5410A>C (p.Asn1804His) | |
3 | g.53801301A>G | CA353250946 | CACNA1D | c.5344A>G (p.Asn1782Asp) n.2283A>G n.719A>G c.5284A>G (p.Asn1762Asp) c.5239A>G (p.Asn1747Asp) c.1405A>G n.640A>G n.711A>G c.5311A>G (p.Asn1771Asp) n.38A>G c.4363A>G (p.Asn1455Asp) c.5539A>G (p.Asn1847Asp) c.5428A>G (p.Asn1810Asp) c.5350A>G (p.Asn1784Asp) c.5002A>G (p.Asn1668Asp) c.4627A>G (p.Asn1543Asp) c.5434A>G (p.Asn1812Asp) c.5536A>G (p.Asn1846Asp) c.5479A>G (p.Asn1827Asp) c.5455A>G (p.Asn1819Asp) c.5410A>G (p.Asn1804Asp) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.53801301A>T | CA353250947 | CACNA1D | c.5344A>T (p.Asn1782Tyr) n.2283A>T n.719A>T c.5284A>T (p.Asn1762Tyr) c.5239A>T (p.Asn1747Tyr) c.1405A>T n.640A>T n.711A>T c.5311A>T (p.Asn1771Tyr) n.38A>T c.4363A>T (p.Asn1455Tyr) c.5539A>T (p.Asn1847Tyr) c.5428A>T (p.Asn1810Tyr) c.5350A>T (p.Asn1784Tyr) c.5002A>T (p.Asn1668Tyr) c.4627A>T (p.Asn1543Tyr) c.5434A>T (p.Asn1812Tyr) c.5536A>T (p.Asn1846Tyr) c.5479A>T (p.Asn1827Tyr) c.5455A>T (p.Asn1819Tyr) c.5410A>T (p.Asn1804Tyr) | |
3 | g.53801302A= | CA1365484193 | CACNA1D | c.5345A= (p.Asn1782=) n.2284A= n.720A= c.5285A= (p.Asn1762=) c.5240A= (p.Asn1747=) c.1406A= n.641A= n.712A= c.5312A= (p.Asn1771=) n.39A= c.4364A= (p.Asn1455=) c.5540A= (p.Asn1847=) c.5429A= (p.Asn1810=) c.5351A= (p.Asn1784=) c.5003A= (p.Asn1668=) c.4628A= (p.Asn1543=) c.5435A= (p.Asn1812=) c.5537A= (p.Asn1846=) c.5480A= (p.Asn1827=) c.5456A= (p.Asn1819=) c.5411A= (p.Asn1804=) | |
3 | g.53801302A>C | CA353250950 | CACNA1D | c.5345A>C (p.Asn1782Thr) n.2284A>C n.720A>C c.5285A>C (p.Asn1762Thr) c.5240A>C (p.Asn1747Thr) c.1406A>C n.641A>C n.712A>C c.5312A>C (p.Asn1771Thr) n.39A>C c.4364A>C (p.Asn1455Thr) c.5540A>C (p.Asn1847Thr) c.5429A>C (p.Asn1810Thr) c.5351A>C (p.Asn1784Thr) c.5003A>C (p.Asn1668Thr) c.4628A>C (p.Asn1543Thr) c.5435A>C (p.Asn1812Thr) c.5537A>C (p.Asn1846Thr) c.5480A>C (p.Asn1827Thr) c.5456A>C (p.Asn1819Thr) c.5411A>C (p.Asn1804Thr) | |
3 | g.53801302A>G | CA2455094 | CACNA1D | c.5345A>G (p.Asn1782Ser) n.2284A>G n.720A>G c.5285A>G (p.Asn1762Ser) c.5240A>G (p.Asn1747Ser) c.1406A>G n.641A>G n.712A>G c.5312A>G (p.Asn1771Ser) n.39A>G c.4364A>G (p.Asn1455Ser) c.5540A>G (p.Asn1847Ser) c.5429A>G (p.Asn1810Ser) c.5351A>G (p.Asn1784Ser) c.5003A>G (p.Asn1668Ser) c.4628A>G (p.Asn1543Ser) c.5435A>G (p.Asn1812Ser) c.5537A>G (p.Asn1846Ser) c.5480A>G (p.Asn1827Ser) c.5456A>G (p.Asn1819Ser) c.5411A>G (p.Asn1804Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.53801302A>T | CA353250953 | CACNA1D | c.5345A>T (p.Asn1782Ile) n.2284A>T n.720A>T c.5285A>T (p.Asn1762Ile) c.5240A>T (p.Asn1747Ile) c.1406A>T n.641A>T n.712A>T c.5312A>T (p.Asn1771Ile) n.39A>T c.4364A>T (p.Asn1455Ile) c.5540A>T (p.Asn1847Ile) c.5429A>T (p.Asn1810Ile) c.5351A>T (p.Asn1784Ile) c.5003A>T (p.Asn1668Ile) c.4628A>T (p.Asn1543Ile) c.5435A>T (p.Asn1812Ile) c.5537A>T (p.Asn1846Ile) c.5480A>T (p.Asn1827Ile) c.5456A>T (p.Asn1819Ile) c.5411A>T (p.Asn1804Ile) |