| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.13231842A= | CA2323793815 | CACNA1A | c.5268T= (p.Ala1756=) c.5274T= (p.Ala1758=) c.687T= n.492T= c.429T= (p.Ala143=) c.5271T= (p.Ala1757=) n.1257T= c.583T= c.363T= (p.Ala121=) c.5277T= (p.Ala1759=) c.564T= (p.Ala188=) c.5286T= (p.Ala1762=) c.5130T= (p.Ala1710=) c.462T= n.661T= c.672T= (p.Ala224=) n.262T= c.5472T= (p.Ala1824=) c.1326T= (p.Ala442=) c.729T= (p.Ala243=) | |
| 19 | g.13231842A>C | CA505657171 | CACNA1A | c.5268T>G (p.Ala1756=) c.5274T>G (p.Ala1758=) c.687T>G n.492T>G c.429T>G (p.Ala143=) c.5271T>G (p.Ala1757=) n.1257T>G c.583T>G c.363T>G (p.Ala121=) c.5277T>G (p.Ala1759=) c.564T>G (p.Ala188=) c.5286T>G (p.Ala1762=) c.5130T>G (p.Ala1710=) c.462T>G n.661T>G c.672T>G (p.Ala224=) n.262T>G c.5472T>G (p.Ala1824=) c.1326T>G (p.Ala442=) c.729T>G (p.Ala243=) | |
| 19 | g.13231842A>G | CA9239765 | CACNA1A | c.5268T>C (p.Ala1756=) c.5274T>C (p.Ala1758=) c.687T>C n.492T>C c.429T>C (p.Ala143=) c.5271T>C (p.Ala1757=) n.1257T>C c.583T>C c.363T>C (p.Ala121=) c.5277T>C (p.Ala1759=) c.564T>C (p.Ala188=) c.5286T>C (p.Ala1762=) c.5130T>C (p.Ala1710=) c.462T>C n.661T>C c.672T>C (p.Ala224=) n.262T>C c.5472T>C (p.Ala1824=) c.1326T>C (p.Ala442=) c.729T>C (p.Ala243=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.13231842A>T | CA505657172 | CACNA1A | c.5268T>A (p.Ala1756=) c.5274T>A (p.Ala1758=) c.687T>A n.492T>A c.429T>A (p.Ala143=) c.5271T>A (p.Ala1757=) n.1257T>A c.583T>A c.363T>A (p.Ala121=) c.5277T>A (p.Ala1759=) c.564T>A (p.Ala188=) c.5286T>A (p.Ala1762=) c.5130T>A (p.Ala1710=) c.462T>A n.661T>A c.672T>A (p.Ala224=) n.262T>A c.5472T>A (p.Ala1824=) c.1326T>A (p.Ala442=) c.729T>A (p.Ala243=) | |
| 19 | g.13231843G>A | CA404334877 | CACNA1A | c.5267C>T (p.Ala1756Val) c.5273C>T (p.Ala1758Val) c.686C>T n.491C>T c.428C>T (p.Ala143Val) c.5270C>T (p.Ala1757Val) n.1256C>T c.582C>T c.362C>T (p.Ala121Val) c.5276C>T (p.Ala1759Val) c.563C>T (p.Ala188Val) c.5285C>T (p.Ala1762Val) c.5129C>T (p.Ala1710Val) c.461C>T n.660C>T c.671C>T (p.Ala224Val) n.261C>T c.5471C>T (p.Ala1824Val) c.1325C>T (p.Ala442Val) c.728C>T (p.Ala243Val) | |
| 19 | g.13231843G>C | CA404334879 | CACNA1A | c.5267C>G (p.Ala1756Gly) c.5273C>G (p.Ala1758Gly) c.686C>G n.491C>G c.428C>G (p.Ala143Gly) c.5270C>G (p.Ala1757Gly) n.1256C>G c.582C>G c.362C>G (p.Ala121Gly) c.5276C>G (p.Ala1759Gly) c.563C>G (p.Ala188Gly) c.5285C>G (p.Ala1762Gly) c.5129C>G (p.Ala1710Gly) c.461C>G n.660C>G c.671C>G (p.Ala224Gly) n.261C>G c.5471C>G (p.Ala1824Gly) c.1325C>G (p.Ala442Gly) c.728C>G (p.Ala243Gly) | |
| 19 | g.13231843G>T | CA404334881 | CACNA1A | c.5267C>A (p.Ala1756Asp) c.5273C>A (p.Ala1758Asp) c.686C>A n.491C>A c.428C>A (p.Ala143Asp) c.5270C>A (p.Ala1757Asp) n.1256C>A c.582C>A c.362C>A (p.Ala121Asp) c.5276C>A (p.Ala1759Asp) c.563C>A (p.Ala188Asp) c.5285C>A (p.Ala1762Asp) c.5129C>A (p.Ala1710Asp) c.461C>A n.660C>A c.671C>A (p.Ala224Asp) n.261C>A c.5471C>A (p.Ala1824Asp) c.1325C>A (p.Ala442Asp) c.728C>A (p.Ala243Asp) | |
| 19 | g.13231844C>A | CA404334888 | CACNA1A | c.5266G>T (p.Ala1756Ser) c.5272G>T (p.Ala1758Ser) c.685G>T n.490G>T c.427G>T (p.Ala143Ser) c.5269G>T (p.Ala1757Ser) n.1255G>T c.581G>T c.361G>T (p.Ala121Ser) c.5275G>T (p.Ala1759Ser) c.562G>T (p.Ala188Ser) c.5284G>T (p.Ala1762Ser) c.5128G>T (p.Ala1710Ser) c.460G>T n.659G>T c.670G>T (p.Ala224Ser) n.260G>T c.5470G>T (p.Ala1824Ser) c.1324G>T (p.Ala442Ser) c.727G>T (p.Ala243Ser) | |
| 19 | g.13231844C>G | CA404334883 | CACNA1A | c.5266G>C (p.Ala1756Pro) c.5272G>C (p.Ala1758Pro) c.685G>C n.490G>C c.427G>C (p.Ala143Pro) c.5269G>C (p.Ala1757Pro) n.1255G>C c.581G>C c.361G>C (p.Ala121Pro) c.5275G>C (p.Ala1759Pro) c.562G>C (p.Ala188Pro) c.5284G>C (p.Ala1762Pro) c.5128G>C (p.Ala1710Pro) c.460G>C n.659G>C c.670G>C (p.Ala224Pro) n.260G>C c.5470G>C (p.Ala1824Pro) c.1324G>C (p.Ala442Pro) c.727G>C (p.Ala243Pro) | |
| 19 | g.13231844C>T | CA404334886 | CACNA1A | c.5266G>A (p.Ala1756Thr) c.5272G>A (p.Ala1758Thr) c.685G>A n.490G>A c.427G>A (p.Ala143Thr) c.5269G>A (p.Ala1757Thr) n.1255G>A c.581G>A c.361G>A (p.Ala121Thr) c.5275G>A (p.Ala1759Thr) c.562G>A (p.Ala188Thr) c.5284G>A (p.Ala1762Thr) c.5128G>A (p.Ala1710Thr) c.460G>A n.659G>A c.670G>A (p.Ala224Thr) n.260G>A c.5470G>A (p.Ala1824Thr) c.1324G>A (p.Ala442Thr) c.727G>A (p.Ala243Thr) | |
| 19 | g.13231845T>A | CA404334890 | CACNA1A | c.5265A>T (p.Glu1755Asp) c.5271A>T (p.Glu1757Asp) c.684A>T n.489A>T c.426A>T (p.Glu142Asp) c.5268A>T (p.Glu1756Asp) n.1254A>T c.580A>T c.360A>T (p.Glu120Asp) c.5274A>T (p.Glu1758Asp) c.561A>T (p.Glu187Asp) c.5283A>T (p.Glu1761Asp) c.5127A>T (p.Glu1709Asp) c.459A>T n.658A>T c.669A>T (p.Glu223Asp) n.259A>T c.5469A>T (p.Glu1823Asp) c.1323A>T (p.Glu441Asp) c.726A>T (p.Glu242Asp) | |
| 19 | g.13231845T>C | CA505657173 | CACNA1A | c.5265A>G (p.Glu1755=) c.5271A>G (p.Glu1757=) c.684A>G n.489A>G c.426A>G (p.Glu142=) c.5268A>G (p.Glu1756=) n.1254A>G c.580A>G c.360A>G (p.Glu120=) c.5274A>G (p.Glu1758=) c.561A>G (p.Glu187=) c.5283A>G (p.Glu1761=) c.5127A>G (p.Glu1709=) c.459A>G n.658A>G c.669A>G (p.Glu223=) n.259A>G c.5469A>G (p.Glu1823=) c.1323A>G (p.Glu441=) c.726A>G (p.Glu242=) | |
| 19 | g.13231845T>G | CA404334892 | CACNA1A | c.5265A>C (p.Glu1755Asp) c.5271A>C (p.Glu1757Asp) c.684A>C n.489A>C c.426A>C (p.Glu142Asp) c.5268A>C (p.Glu1756Asp) n.1254A>C c.580A>C c.360A>C (p.Glu120Asp) c.5274A>C (p.Glu1758Asp) c.561A>C (p.Glu187Asp) c.5283A>C (p.Glu1761Asp) c.5127A>C (p.Glu1709Asp) c.459A>C n.658A>C c.669A>C (p.Glu223Asp) n.259A>C c.5469A>C (p.Glu1823Asp) c.1323A>C (p.Glu441Asp) c.726A>C (p.Glu242Asp) | |
| 19 | g.13231846T>A | CA404334895 | CACNA1A | c.5264A>T (p.Glu1755Val) c.5270A>T (p.Glu1757Val) c.683A>T n.488A>T c.425A>T (p.Glu142Val) c.5267A>T (p.Glu1756Val) n.1253A>T c.579A>T c.359A>T (p.Glu120Val) c.5273A>T (p.Glu1758Val) c.560A>T (p.Glu187Val) c.5282A>T (p.Glu1761Val) c.5126A>T (p.Glu1709Val) c.458A>T n.657A>T c.668A>T (p.Glu223Val) n.258A>T c.5468A>T (p.Glu1823Val) c.1322A>T (p.Glu441Val) c.725A>T (p.Glu242Val) | |
| 19 | g.13231846T>C | CA404334897 | CACNA1A | c.5264A>G (p.Glu1755Gly) c.5270A>G (p.Glu1757Gly) c.683A>G n.488A>G c.425A>G (p.Glu142Gly) c.5267A>G (p.Glu1756Gly) n.1253A>G c.579A>G c.359A>G (p.Glu120Gly) c.5273A>G (p.Glu1758Gly) c.560A>G (p.Glu187Gly) c.5282A>G (p.Glu1761Gly) c.5126A>G (p.Glu1709Gly) c.458A>G n.657A>G c.668A>G (p.Glu223Gly) n.258A>G c.5468A>G (p.Glu1823Gly) c.1322A>G (p.Glu441Gly) c.725A>G (p.Glu242Gly) | ClinVar |
| 19 | g.13231846T>G | CA404334899 | CACNA1A | c.5264A>C (p.Glu1755Ala) c.5270A>C (p.Glu1757Ala) c.683A>C n.488A>C c.425A>C (p.Glu142Ala) c.5267A>C (p.Glu1756Ala) n.1253A>C c.579A>C c.359A>C (p.Glu120Ala) c.5273A>C (p.Glu1758Ala) c.560A>C (p.Glu187Ala) c.5282A>C (p.Glu1761Ala) c.5126A>C (p.Glu1709Ala) c.458A>C n.657A>C c.668A>C (p.Glu223Ala) n.258A>C c.5468A>C (p.Glu1823Ala) c.1322A>C (p.Glu441Ala) c.725A>C (p.Glu242Ala) | |
| 19 | g.13231847C>A | CA404334902 | CACNA1A | c.5263G>T (p.Glu1755Ter) c.5269G>T (p.Glu1757Ter) c.682G>T n.487G>T c.424G>T (p.Glu142Ter) c.5266G>T (p.Glu1756Ter) n.1252G>T c.578G>T c.358G>T (p.Glu120Ter) c.5272G>T (p.Glu1758Ter) c.559G>T (p.Glu187Ter) c.5281G>T (p.Glu1761Ter) c.5125G>T (p.Glu1709Ter) c.457G>T n.656G>T c.667G>T (p.Glu223Ter) n.257G>T c.5467G>T (p.Glu1823Ter) c.1321G>T (p.Glu441Ter) c.724G>T (p.Glu242Ter) | |
| 19 | g.13231847C= | CA2323793816 | CACNA1A | c.5263G= (p.Glu1755=) c.5269G= (p.Glu1757=) c.682G= n.487G= c.424G= (p.Glu142=) c.5266G= (p.Glu1756=) n.1252G= c.578G= c.358G= (p.Glu120=) c.5272G= (p.Glu1758=) c.559G= (p.Glu187=) c.5281G= (p.Glu1761=) c.5125G= (p.Glu1709=) c.457G= n.656G= c.667G= (p.Glu223=) n.257G= c.5467G= (p.Glu1823=) c.1321G= (p.Glu441=) c.724G= (p.Glu242=) | |
| 19 | g.13231847C>G | CA404334904 | CACNA1A | c.5263G>C (p.Glu1755Gln) c.5269G>C (p.Glu1757Gln) c.682G>C n.487G>C c.424G>C (p.Glu142Gln) c.5266G>C (p.Glu1756Gln) n.1252G>C c.578G>C c.358G>C (p.Glu120Gln) c.5272G>C (p.Glu1758Gln) c.559G>C (p.Glu187Gln) c.5281G>C (p.Glu1761Gln) c.5125G>C (p.Glu1709Gln) c.457G>C n.656G>C c.667G>C (p.Glu223Gln) n.257G>C c.5467G>C (p.Glu1823Gln) c.1321G>C (p.Glu441Gln) c.724G>C (p.Glu242Gln) | |
| 19 | g.13231847C>T | CA254457 | CACNA1A | c.5263G>A (p.Glu1755Lys) c.5269G>A (p.Glu1757Lys) c.682G>A n.487G>A c.424G>A (p.Glu142Lys) c.5266G>A (p.Glu1756Lys) n.1252G>A c.578G>A c.358G>A (p.Glu120Lys) c.5272G>A (p.Glu1758Lys) c.559G>A (p.Glu187Lys) c.5281G>A (p.Glu1761Lys) c.5125G>A (p.Glu1709Lys) c.457G>A n.656G>A c.667G>A (p.Glu223Lys) n.257G>A c.5467G>A (p.Glu1823Lys) c.1321G>A (p.Glu441Lys) c.724G>A (p.Glu242Lys) | ClinVar dbSNP |
| 19 | g.13231848C>A | CA505657176 | CACNA1A | c.5262G>T (p.Gly1754=) c.5268G>T (p.Gly1756=) c.681G>T n.486G>T c.423G>T (p.Gly141=) c.5265G>T (p.Gly1755=) n.1251G>T c.577G>T c.357G>T (p.Gly119=) c.5271G>T (p.Gly1757=) c.558G>T (p.Gly186=) c.5280G>T (p.Gly1760=) c.5124G>T (p.Gly1708=) c.456G>T n.655G>T c.666G>T (p.Gly222=) n.256G>T c.5466G>T (p.Gly1822=) c.1320G>T (p.Gly440=) c.723G>T (p.Gly241=) | |
| 19 | g.13231848C>G | CA505657175 | CACNA1A | c.5262G>C (p.Gly1754=) c.5268G>C (p.Gly1756=) c.681G>C n.486G>C c.423G>C (p.Gly141=) c.5265G>C (p.Gly1755=) n.1251G>C c.577G>C c.357G>C (p.Gly119=) c.5271G>C (p.Gly1757=) c.558G>C (p.Gly186=) c.5280G>C (p.Gly1760=) c.5124G>C (p.Gly1708=) c.456G>C n.655G>C c.666G>C (p.Gly222=) n.256G>C c.5466G>C (p.Gly1822=) c.1320G>C (p.Gly440=) c.723G>C (p.Gly241=) | |
| 19 | g.13231848C>T | CA505657174 | CACNA1A | c.5262G>A (p.Gly1754=) c.5268G>A (p.Gly1756=) c.681G>A n.486G>A c.423G>A (p.Gly141=) c.5265G>A (p.Gly1755=) n.1251G>A c.577G>A c.357G>A (p.Gly119=) c.5271G>A (p.Gly1757=) c.558G>A (p.Gly186=) c.5280G>A (p.Gly1760=) c.5124G>A (p.Gly1708=) c.456G>A n.655G>A c.666G>A (p.Gly222=) n.256G>A c.5466G>A (p.Gly1822=) c.1320G>A (p.Gly440=) c.723G>A (p.Gly241=) | ClinVar |
| 19 | g.13231849C>A | CA404334913 | CACNA1A | c.5261G>T (p.Gly1754Val) c.5267G>T (p.Gly1756Val) c.680G>T n.485G>T c.422G>T (p.Gly141Val) c.5264G>T (p.Gly1755Val) n.1250G>T c.576G>T c.356G>T (p.Gly119Val) c.5270G>T (p.Gly1757Val) c.557G>T (p.Gly186Val) c.5279G>T (p.Gly1760Val) c.5123G>T (p.Gly1708Val) c.455G>T n.654G>T c.665G>T (p.Gly222Val) n.255G>T c.5465G>T (p.Gly1822Val) c.1319G>T (p.Gly440Val) c.722G>T (p.Gly241Val) | |
| 19 | g.13231849C>G | CA404334915 | CACNA1A | c.5261G>C (p.Gly1754Ala) c.5267G>C (p.Gly1756Ala) c.680G>C n.485G>C c.422G>C (p.Gly141Ala) c.5264G>C (p.Gly1755Ala) n.1250G>C c.576G>C c.356G>C (p.Gly119Ala) c.5270G>C (p.Gly1757Ala) c.557G>C (p.Gly186Ala) c.5279G>C (p.Gly1760Ala) c.5123G>C (p.Gly1708Ala) c.455G>C n.654G>C c.665G>C (p.Gly222Ala) n.255G>C c.5465G>C (p.Gly1822Ala) c.1319G>C (p.Gly440Ala) c.722G>C (p.Gly241Ala) | |
| 19 | g.13231849C>T | CA404334917 | CACNA1A | c.5261G>A (p.Gly1754Glu) c.5267G>A (p.Gly1756Glu) c.680G>A n.485G>A c.422G>A (p.Gly141Glu) c.5264G>A (p.Gly1755Glu) n.1250G>A c.576G>A c.356G>A (p.Gly119Glu) c.5270G>A (p.Gly1757Glu) c.557G>A (p.Gly186Glu) c.5279G>A (p.Gly1760Glu) c.5123G>A (p.Gly1708Glu) c.455G>A n.654G>A c.665G>A (p.Gly222Glu) n.255G>A c.5465G>A (p.Gly1822Glu) c.1319G>A (p.Gly440Glu) c.722G>A (p.Gly241Glu) | |
| 19 | g.13231850C>A | CA404334923 | CACNA1A | c.5260G>T (p.Gly1754Trp) c.5266G>T (p.Gly1756Trp) c.679G>T n.484G>T c.421G>T (p.Gly141Trp) c.5263G>T (p.Gly1755Trp) n.1249G>T c.575G>T c.355G>T (p.Gly119Trp) c.5269G>T (p.Gly1757Trp) c.556G>T (p.Gly186Trp) c.5278G>T (p.Gly1760Trp) c.5122G>T (p.Gly1708Trp) c.454G>T n.653G>T c.664G>T (p.Gly222Trp) n.254G>T c.5464G>T (p.Gly1822Trp) c.1318G>T (p.Gly440Trp) c.721G>T (p.Gly241Trp) | |
| 19 | g.13231850C= | CA2323793817 | CACNA1A | c.5260G= (p.Gly1754=) c.5266G= (p.Gly1756=) c.679G= n.484G= c.421G= (p.Gly141=) c.5263G= (p.Gly1755=) n.1249G= c.575G= c.355G= (p.Gly119=) c.5269G= (p.Gly1757=) c.556G= (p.Gly186=) c.5278G= (p.Gly1760=) c.5122G= (p.Gly1708=) c.454G= n.653G= c.664G= (p.Gly222=) n.254G= c.5464G= (p.Gly1822=) c.1318G= (p.Gly440=) c.721G= (p.Gly241=) | |
| 19 | g.13231850C>G | CA404334925 | CACNA1A | c.5260G>C (p.Gly1754Arg) c.5266G>C (p.Gly1756Arg) c.679G>C n.484G>C c.421G>C (p.Gly141Arg) c.5263G>C (p.Gly1755Arg) n.1249G>C c.575G>C c.355G>C (p.Gly119Arg) c.5269G>C (p.Gly1757Arg) c.556G>C (p.Gly186Arg) c.5278G>C (p.Gly1760Arg) c.5122G>C (p.Gly1708Arg) c.454G>C n.653G>C c.664G>C (p.Gly222Arg) n.254G>C c.5464G>C (p.Gly1822Arg) c.1318G>C (p.Gly440Arg) c.721G>C (p.Gly241Arg) | |
| 19 | g.13231850C>T | CA404334921 | CACNA1A | c.5260G>A (p.Gly1754Arg) c.5266G>A (p.Gly1756Arg) c.679G>A n.484G>A c.421G>A (p.Gly141Arg) c.5263G>A (p.Gly1755Arg) n.1249G>A c.575G>A c.355G>A (p.Gly119Arg) c.5269G>A (p.Gly1757Arg) c.556G>A (p.Gly186Arg) c.5278G>A (p.Gly1760Arg) c.5122G>A (p.Gly1708Arg) c.454G>A n.653G>A c.664G>A (p.Gly222Arg) n.254G>A c.5464G>A (p.Gly1822Arg) c.1318G>A (p.Gly440Arg) c.721G>A (p.Gly241Arg) | ClinVar dbSNP gnomAD v4 |
| 19 | g.13231851G>A | CA9239766 | CACNA1A | c.5259C>T (p.Thr1753=) c.5265C>T (p.Thr1755=) c.678C>T n.483C>T c.420C>T (p.Thr140=) c.5262C>T (p.Thr1754=) n.1248C>T c.574C>T c.354C>T (p.Thr118=) c.5268C>T (p.Thr1756=) c.555C>T (p.Thr185=) c.5277C>T (p.Thr1759=) c.5121C>T (p.Thr1707=) c.453C>T n.652C>T c.663C>T (p.Thr221=) n.253C>T c.5463C>T (p.Thr1821=) c.1317C>T (p.Thr439=) c.720C>T (p.Thr240=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.13231851G>C | CA505657177 | CACNA1A | c.5259C>G (p.Thr1753=) c.5265C>G (p.Thr1755=) c.678C>G n.483C>G c.420C>G (p.Thr140=) c.5262C>G (p.Thr1754=) n.1248C>G c.574C>G c.354C>G (p.Thr118=) c.5268C>G (p.Thr1756=) c.555C>G (p.Thr185=) c.5277C>G (p.Thr1759=) c.5121C>G (p.Thr1707=) c.453C>G n.652C>G c.663C>G (p.Thr221=) n.253C>G c.5463C>G (p.Thr1821=) c.1317C>G (p.Thr439=) c.720C>G (p.Thr240=) | |
| 19 | g.13231851G= | CA2323793818 | CACNA1A | c.5259C= (p.Thr1753=) c.5265C= (p.Thr1755=) c.678C= n.483C= c.420C= (p.Thr140=) c.5262C= (p.Thr1754=) n.1248C= c.574C= c.354C= (p.Thr118=) c.5268C= (p.Thr1756=) c.555C= (p.Thr185=) c.5277C= (p.Thr1759=) c.5121C= (p.Thr1707=) c.453C= n.652C= c.663C= (p.Thr221=) n.253C= c.5463C= (p.Thr1821=) c.1317C= (p.Thr439=) c.720C= (p.Thr240=) | |
| 19 | g.13231851G>T | CA505657178 | CACNA1A | c.5259C>A (p.Thr1753=) c.5265C>A (p.Thr1755=) c.678C>A n.483C>A c.420C>A (p.Thr140=) c.5262C>A (p.Thr1754=) n.1248C>A c.574C>A c.354C>A (p.Thr118=) c.5268C>A (p.Thr1756=) c.555C>A (p.Thr185=) c.5277C>A (p.Thr1759=) c.5121C>A (p.Thr1707=) c.453C>A n.652C>A c.663C>A (p.Thr221=) n.253C>A c.5463C>A (p.Thr1821=) c.1317C>A (p.Thr439=) c.720C>A (p.Thr240=) | |
| 19 | g.13231852G>A | CA404334928 | CACNA1A | c.5258C>T (p.Thr1753Ile) c.5264C>T (p.Thr1755Ile) c.677C>T n.482C>T c.419C>T (p.Thr140Ile) c.5261C>T (p.Thr1754Ile) n.1247C>T c.573C>T c.353C>T (p.Thr118Ile) c.5267C>T (p.Thr1756Ile) c.554C>T (p.Thr185Ile) c.5276C>T (p.Thr1759Ile) c.5120C>T (p.Thr1707Ile) c.452C>T n.651C>T c.662C>T (p.Thr221Ile) n.252C>T c.5462C>T (p.Thr1821Ile) c.1316C>T (p.Thr439Ile) c.719C>T (p.Thr240Ile) | |
| 19 | g.13231852G>C | CA404334930 | CACNA1A | c.5258C>G (p.Thr1753Ser) c.5264C>G (p.Thr1755Ser) c.677C>G n.482C>G c.419C>G (p.Thr140Ser) c.5261C>G (p.Thr1754Ser) n.1247C>G c.573C>G c.353C>G (p.Thr118Ser) c.5267C>G (p.Thr1756Ser) c.554C>G (p.Thr185Ser) c.5276C>G (p.Thr1759Ser) c.5120C>G (p.Thr1707Ser) c.452C>G n.651C>G c.662C>G (p.Thr221Ser) n.252C>G c.5462C>G (p.Thr1821Ser) c.1316C>G (p.Thr439Ser) c.719C>G (p.Thr240Ser) | ClinVar |
| 19 | g.13231852G>T | CA404334932 | CACNA1A | c.5258C>A (p.Thr1753Asn) c.5264C>A (p.Thr1755Asn) c.677C>A n.482C>A c.419C>A (p.Thr140Asn) c.5261C>A (p.Thr1754Asn) n.1247C>A c.573C>A c.353C>A (p.Thr118Asn) c.5267C>A (p.Thr1756Asn) c.554C>A (p.Thr185Asn) c.5276C>A (p.Thr1759Asn) c.5120C>A (p.Thr1707Asn) c.452C>A n.651C>A c.662C>A (p.Thr221Asn) n.252C>A c.5462C>A (p.Thr1821Asn) c.1316C>A (p.Thr439Asn) c.719C>A (p.Thr240Asn) | |
| 19 | g.13231853T>A | CA404334934 | CACNA1A | c.5257A>T (p.Thr1753Ser) c.5263A>T (p.Thr1755Ser) c.676A>T n.481A>T c.418A>T (p.Thr140Ser) c.5260A>T (p.Thr1754Ser) n.1246A>T c.572A>T c.352A>T (p.Thr118Ser) c.5266A>T (p.Thr1756Ser) c.553A>T (p.Thr185Ser) c.5275A>T (p.Thr1759Ser) c.5119A>T (p.Thr1707Ser) c.451A>T n.650A>T c.661A>T (p.Thr221Ser) n.251A>T c.5461A>T (p.Thr1821Ser) c.1315A>T (p.Thr439Ser) c.718A>T (p.Thr240Ser) | |
| 19 | g.13231853T>C | CA404334937 | CACNA1A | c.5257A>G (p.Thr1753Ala) c.5263A>G (p.Thr1755Ala) c.676A>G n.481A>G c.418A>G (p.Thr140Ala) c.5260A>G (p.Thr1754Ala) n.1246A>G c.572A>G c.352A>G (p.Thr118Ala) c.5266A>G (p.Thr1756Ala) c.553A>G (p.Thr185Ala) c.5275A>G (p.Thr1759Ala) c.5119A>G (p.Thr1707Ala) c.451A>G n.650A>G c.661A>G (p.Thr221Ala) n.251A>G c.5461A>G (p.Thr1821Ala) c.1315A>G (p.Thr439Ala) c.718A>G (p.Thr240Ala) | |
| 19 | g.13231853T>G | CA404334938 | CACNA1A | c.5257A>C (p.Thr1753Pro) c.5263A>C (p.Thr1755Pro) c.676A>C n.481A>C c.418A>C (p.Thr140Pro) c.5260A>C (p.Thr1754Pro) n.1246A>C c.572A>C c.352A>C (p.Thr118Pro) c.5266A>C (p.Thr1756Pro) c.553A>C (p.Thr185Pro) c.5275A>C (p.Thr1759Pro) c.5119A>C (p.Thr1707Pro) c.451A>C n.650A>C c.661A>C (p.Thr221Pro) n.251A>C c.5461A>C (p.Thr1821Pro) c.1315A>C (p.Thr439Pro) c.718A>C (p.Thr240Pro) | |
| 19 | g.13231854G>A | CA9239767 | CACNA1A | c.5256C>T (p.Ala1752=) c.5262C>T (p.Ala1754=) c.675C>T n.480C>T c.417C>T (p.Ala139=) c.5259C>T (p.Ala1753=) n.1245C>T c.571C>T c.351C>T (p.Ala117=) c.5265C>T (p.Ala1755=) c.552C>T (p.Ala184=) c.5274C>T (p.Ala1758=) c.5118C>T (p.Ala1706=) c.450C>T n.649C>T c.660C>T (p.Ala220=) n.250C>T c.5460C>T (p.Ala1820=) c.1314C>T (p.Ala438=) c.717C>T (p.Ala239=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.13231854G>C | CA505657181 | CACNA1A | c.5256C>G (p.Ala1752=) c.5262C>G (p.Ala1754=) c.675C>G n.480C>G c.417C>G (p.Ala139=) c.5259C>G (p.Ala1753=) n.1245C>G c.571C>G c.351C>G (p.Ala117=) c.5265C>G (p.Ala1755=) c.552C>G (p.Ala184=) c.5274C>G (p.Ala1758=) c.5118C>G (p.Ala1706=) c.450C>G n.649C>G c.660C>G (p.Ala220=) n.250C>G c.5460C>G (p.Ala1820=) c.1314C>G (p.Ala438=) c.717C>G (p.Ala239=) | |
| 19 | g.13231854G= | CA2323793819 | CACNA1A | c.5256C= (p.Ala1752=) c.5262C= (p.Ala1754=) c.675C= n.480C= c.417C= (p.Ala139=) c.5259C= (p.Ala1753=) n.1245C= c.571C= c.351C= (p.Ala117=) c.5265C= (p.Ala1755=) c.552C= (p.Ala184=) c.5274C= (p.Ala1758=) c.5118C= (p.Ala1706=) c.450C= n.649C= c.660C= (p.Ala220=) n.250C= c.5460C= (p.Ala1820=) c.1314C= (p.Ala438=) c.717C= (p.Ala239=) | |
| 19 | g.13231854G>T | CA505657180 | CACNA1A | c.5256C>A (p.Ala1752=) c.5262C>A (p.Ala1754=) c.675C>A n.480C>A c.417C>A (p.Ala139=) c.5259C>A (p.Ala1753=) n.1245C>A c.571C>A c.351C>A (p.Ala117=) c.5265C>A (p.Ala1755=) c.552C>A (p.Ala184=) c.5274C>A (p.Ala1758=) c.5118C>A (p.Ala1706=) c.450C>A n.649C>A c.660C>A (p.Ala220=) n.250C>A c.5460C>A (p.Ala1820=) c.1314C>A (p.Ala438=) c.717C>A (p.Ala239=) | |
| 19 | g.13231855G>A | CA404334942 | CACNA1A | c.5255C>T (p.Ala1752Val) c.5261C>T (p.Ala1754Val) c.674C>T n.479C>T c.416C>T (p.Ala139Val) c.5258C>T (p.Ala1753Val) n.1244C>T c.570C>T c.350C>T (p.Ala117Val) c.5264C>T (p.Ala1755Val) c.551C>T (p.Ala184Val) c.5273C>T (p.Ala1758Val) c.5117C>T (p.Ala1706Val) c.449C>T n.648C>T c.659C>T (p.Ala220Val) n.249C>T c.5459C>T (p.Ala1820Val) c.1313C>T (p.Ala438Val) c.716C>T (p.Ala239Val) | |
| 19 | g.13231855G>C | CA404334944 | CACNA1A | c.5255C>G (p.Ala1752Gly) c.5261C>G (p.Ala1754Gly) c.674C>G n.479C>G c.416C>G (p.Ala139Gly) c.5258C>G (p.Ala1753Gly) n.1244C>G c.570C>G c.350C>G (p.Ala117Gly) c.5264C>G (p.Ala1755Gly) c.551C>G (p.Ala184Gly) c.5273C>G (p.Ala1758Gly) c.5117C>G (p.Ala1706Gly) c.449C>G n.648C>G c.659C>G (p.Ala220Gly) n.249C>G c.5459C>G (p.Ala1820Gly) c.1313C>G (p.Ala438Gly) c.716C>G (p.Ala239Gly) | |
| 19 | g.13231855G>T | CA404334945 | CACNA1A | c.5255C>A (p.Ala1752Asp) c.5261C>A (p.Ala1754Asp) c.674C>A n.479C>A c.416C>A (p.Ala139Asp) c.5258C>A (p.Ala1753Asp) n.1244C>A c.570C>A c.350C>A (p.Ala117Asp) c.5264C>A (p.Ala1755Asp) c.551C>A (p.Ala184Asp) c.5273C>A (p.Ala1758Asp) c.5117C>A (p.Ala1706Asp) c.449C>A n.648C>A c.659C>A (p.Ala220Asp) n.249C>A c.5459C>A (p.Ala1820Asp) c.1313C>A (p.Ala438Asp) c.716C>A (p.Ala239Asp) | |
| 19 | g.13231856C>A | CA404334949 | CACNA1A | c.5254G>T (p.Ala1752Ser) c.5260G>T (p.Ala1754Ser) c.673G>T n.478G>T c.415G>T (p.Ala139Ser) c.5257G>T (p.Ala1753Ser) n.1243G>T c.569G>T c.349G>T (p.Ala117Ser) c.5263G>T (p.Ala1755Ser) c.550G>T (p.Ala184Ser) c.5272G>T (p.Ala1758Ser) c.5116G>T (p.Ala1706Ser) c.448G>T n.647G>T c.658G>T (p.Ala220Ser) n.248G>T c.5458G>T (p.Ala1820Ser) c.1312G>T (p.Ala438Ser) c.715G>T (p.Ala239Ser) | |
| 19 | g.13231856C>G | CA404334951 | CACNA1A | c.5254G>C (p.Ala1752Pro) c.5260G>C (p.Ala1754Pro) c.673G>C n.478G>C c.415G>C (p.Ala139Pro) c.5257G>C (p.Ala1753Pro) n.1243G>C c.569G>C c.349G>C (p.Ala117Pro) c.5263G>C (p.Ala1755Pro) c.550G>C (p.Ala184Pro) c.5272G>C (p.Ala1758Pro) c.5116G>C (p.Ala1706Pro) c.448G>C n.647G>C c.658G>C (p.Ala220Pro) n.248G>C c.5458G>C (p.Ala1820Pro) c.1312G>C (p.Ala438Pro) c.715G>C (p.Ala239Pro) | |
| 19 | g.13231856C>T | CA404334953 | CACNA1A | c.5254G>A (p.Ala1752Thr) c.5260G>A (p.Ala1754Thr) c.673G>A n.478G>A c.415G>A (p.Ala139Thr) c.5257G>A (p.Ala1753Thr) n.1243G>A c.569G>A c.349G>A (p.Ala117Thr) c.5263G>A (p.Ala1755Thr) c.550G>A (p.Ala184Thr) c.5272G>A (p.Ala1758Thr) c.5116G>A (p.Ala1706Thr) c.448G>A n.647G>A c.658G>A (p.Ala220Thr) n.248G>A c.5458G>A (p.Ala1820Thr) c.1312G>A (p.Ala438Thr) c.715G>A (p.Ala239Thr) |