Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.53801359C>A | CA353251587 | CACNA1D | c.5402C>A (p.Ser1801Tyr) n.2341C>A n.777C>A c.5342C>A (p.Ser1781Tyr) c.5297C>A (p.Ser1766Tyr) c.1463C>A n.698C>A n.769C>A c.5369C>A (p.Ser1790Tyr) n.96C>A c.4421C>A (p.Ser1474Tyr) c.5597C>A (p.Ser1866Tyr) c.5486C>A (p.Ser1829Tyr) c.5408C>A (p.Ser1803Tyr) c.5060C>A (p.Ser1687Tyr) c.4685C>A (p.Ser1562Tyr) c.5492C>A (p.Ser1831Tyr) c.5594C>A (p.Ser1865Tyr) c.5537C>A (p.Ser1846Tyr) c.5513C>A (p.Ser1838Tyr) c.5468C>A (p.Ser1823Tyr) | |
3 | g.53801359C= | CA1365484219 | CACNA1D | c.5402C= (p.Ser1801=) n.2341C= n.777C= c.5342C= (p.Ser1781=) c.5297C= (p.Ser1766=) c.1463C= n.698C= n.769C= c.5369C= (p.Ser1790=) n.96C= c.4421C= (p.Ser1474=) c.5597C= (p.Ser1866=) c.5486C= (p.Ser1829=) c.5408C= (p.Ser1803=) c.5060C= (p.Ser1687=) c.4685C= (p.Ser1562=) c.5492C= (p.Ser1831=) c.5594C= (p.Ser1865=) c.5537C= (p.Ser1846=) c.5513C= (p.Ser1838=) c.5468C= (p.Ser1823=) | |
3 | g.53801359C>G | CA353251589 | CACNA1D | c.5402C>G (p.Ser1801Cys) n.2341C>G n.777C>G c.5342C>G (p.Ser1781Cys) c.5297C>G (p.Ser1766Cys) c.1463C>G n.698C>G n.769C>G c.5369C>G (p.Ser1790Cys) n.96C>G c.4421C>G (p.Ser1474Cys) c.5597C>G (p.Ser1866Cys) c.5486C>G (p.Ser1829Cys) c.5408C>G (p.Ser1803Cys) c.5060C>G (p.Ser1687Cys) c.4685C>G (p.Ser1562Cys) c.5492C>G (p.Ser1831Cys) c.5594C>G (p.Ser1865Cys) c.5537C>G (p.Ser1846Cys) c.5513C>G (p.Ser1838Cys) c.5468C>G (p.Ser1823Cys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.53801359C>T | CA353251586 | CACNA1D | c.5402C>T (p.Ser1801Phe) n.2341C>T n.777C>T c.5342C>T (p.Ser1781Phe) c.5297C>T (p.Ser1766Phe) c.1463C>T n.698C>T n.769C>T c.5369C>T (p.Ser1790Phe) n.96C>T c.4421C>T (p.Ser1474Phe) c.5597C>T (p.Ser1866Phe) c.5486C>T (p.Ser1829Phe) c.5408C>T (p.Ser1803Phe) c.5060C>T (p.Ser1687Phe) c.4685C>T (p.Ser1562Phe) c.5492C>T (p.Ser1831Phe) c.5594C>T (p.Ser1865Phe) c.5537C>T (p.Ser1846Phe) c.5513C>T (p.Ser1838Phe) c.5468C>T (p.Ser1823Phe) | |
3 | g.53801360T>A | CA433804105 | CACNA1D | c.5403T>A (p.Ser1801=) n.2342T>A n.778T>A c.5343T>A (p.Ser1781=) c.5298T>A (p.Ser1766=) c.1464T>A n.699T>A n.770T>A c.5370T>A (p.Ser1790=) n.97T>A c.4422T>A (p.Ser1474=) c.5598T>A (p.Ser1866=) c.5487T>A (p.Ser1829=) c.5409T>A (p.Ser1803=) c.5061T>A (p.Ser1687=) c.4686T>A (p.Ser1562=) c.5493T>A (p.Ser1831=) c.5595T>A (p.Ser1865=) c.5538T>A (p.Ser1846=) c.5514T>A (p.Ser1838=) c.5469T>A (p.Ser1823=) | |
3 | g.53801360T>C | CA433804106 | CACNA1D | c.5403T>C (p.Ser1801=) n.2342T>C n.778T>C c.5343T>C (p.Ser1781=) c.5298T>C (p.Ser1766=) c.1464T>C n.699T>C n.770T>C c.5370T>C (p.Ser1790=) n.97T>C c.4422T>C (p.Ser1474=) c.5598T>C (p.Ser1866=) c.5487T>C (p.Ser1829=) c.5409T>C (p.Ser1803=) c.5061T>C (p.Ser1687=) c.4686T>C (p.Ser1562=) c.5493T>C (p.Ser1831=) c.5595T>C (p.Ser1865=) c.5538T>C (p.Ser1846=) c.5514T>C (p.Ser1838=) c.5469T>C (p.Ser1823=) | |
3 | g.53801360T>G | CA433804107 | CACNA1D | c.5403T>G (p.Ser1801=) n.2342T>G n.778T>G c.5343T>G (p.Ser1781=) c.5298T>G (p.Ser1766=) c.1464T>G n.699T>G n.770T>G c.5370T>G (p.Ser1790=) n.97T>G c.4422T>G (p.Ser1474=) c.5598T>G (p.Ser1866=) c.5487T>G (p.Ser1829=) c.5409T>G (p.Ser1803=) c.5061T>G (p.Ser1687=) c.4686T>G (p.Ser1562=) c.5493T>G (p.Ser1831=) c.5595T>G (p.Ser1865=) c.5538T>G (p.Ser1846=) c.5514T>G (p.Ser1838=) c.5469T>G (p.Ser1823=) | |
3 | g.53801361G>A | CA353251592 | CACNA1D | c.5404G>A (p.Glu1802Lys) n.2343G>A n.779G>A c.5344G>A (p.Glu1782Lys) c.5299G>A (p.Glu1767Lys) c.1465G>A n.700G>A n.771G>A c.5371G>A (p.Glu1791Lys) n.98G>A c.4423G>A (p.Glu1475Lys) c.5599G>A (p.Glu1867Lys) c.5488G>A (p.Glu1830Lys) c.5410G>A (p.Glu1804Lys) c.5062G>A (p.Glu1688Lys) c.4687G>A (p.Glu1563Lys) c.5494G>A (p.Glu1832Lys) c.5596G>A (p.Glu1866Lys) c.5539G>A (p.Glu1847Lys) c.5515G>A (p.Glu1839Lys) c.5470G>A (p.Glu1824Lys) | |
3 | g.53801361G>C | CA353251595 | CACNA1D | c.5404G>C (p.Glu1802Gln) n.2343G>C n.779G>C c.5344G>C (p.Glu1782Gln) c.5299G>C (p.Glu1767Gln) c.1465G>C n.700G>C n.771G>C c.5371G>C (p.Glu1791Gln) n.98G>C c.4423G>C (p.Glu1475Gln) c.5599G>C (p.Glu1867Gln) c.5488G>C (p.Glu1830Gln) c.5410G>C (p.Glu1804Gln) c.5062G>C (p.Glu1688Gln) c.4687G>C (p.Glu1563Gln) c.5494G>C (p.Glu1832Gln) c.5596G>C (p.Glu1866Gln) c.5539G>C (p.Glu1847Gln) c.5515G>C (p.Glu1839Gln) c.5470G>C (p.Glu1824Gln) | |
3 | g.53801361G>T | CA353251593 | CACNA1D | c.5404G>T (p.Glu1802Ter) n.2343G>T n.779G>T c.5344G>T (p.Glu1782Ter) c.5299G>T (p.Glu1767Ter) c.1465G>T n.700G>T n.771G>T c.5371G>T (p.Glu1791Ter) n.98G>T c.4423G>T (p.Glu1475Ter) c.5599G>T (p.Glu1867Ter) c.5488G>T (p.Glu1830Ter) c.5410G>T (p.Glu1804Ter) c.5062G>T (p.Glu1688Ter) c.4687G>T (p.Glu1563Ter) c.5494G>T (p.Glu1832Ter) c.5596G>T (p.Glu1866Ter) c.5539G>T (p.Glu1847Ter) c.5515G>T (p.Glu1839Ter) c.5470G>T (p.Glu1824Ter) | |
3 | g.53801362A>C | CA353251598 | CACNA1D | c.5405A>C (p.Glu1802Ala) n.2344A>C n.780A>C c.5345A>C (p.Glu1782Ala) c.5300A>C (p.Glu1767Ala) c.1466A>C n.701A>C n.772A>C c.5372A>C (p.Glu1791Ala) n.99A>C c.4424A>C (p.Glu1475Ala) c.5600A>C (p.Glu1867Ala) c.5489A>C (p.Glu1830Ala) c.5411A>C (p.Glu1804Ala) c.5063A>C (p.Glu1688Ala) c.4688A>C (p.Glu1563Ala) c.5495A>C (p.Glu1832Ala) c.5597A>C (p.Glu1866Ala) c.5540A>C (p.Glu1847Ala) c.5516A>C (p.Glu1839Ala) c.5471A>C (p.Glu1824Ala) | |
3 | g.53801362A>G | CA353251599 | CACNA1D | c.5405A>G (p.Glu1802Gly) n.2344A>G n.780A>G c.5345A>G (p.Glu1782Gly) c.5300A>G (p.Glu1767Gly) c.1466A>G n.701A>G n.772A>G c.5372A>G (p.Glu1791Gly) n.99A>G c.4424A>G (p.Glu1475Gly) c.5600A>G (p.Glu1867Gly) c.5489A>G (p.Glu1830Gly) c.5411A>G (p.Glu1804Gly) c.5063A>G (p.Glu1688Gly) c.4688A>G (p.Glu1563Gly) c.5495A>G (p.Glu1832Gly) c.5597A>G (p.Glu1866Gly) c.5540A>G (p.Glu1847Gly) c.5516A>G (p.Glu1839Gly) c.5471A>G (p.Glu1824Gly) | |
3 | g.53801362A>T | CA353251601 | CACNA1D | c.5405A>T (p.Glu1802Val) n.2344A>T n.780A>T c.5345A>T (p.Glu1782Val) c.5300A>T (p.Glu1767Val) c.1466A>T n.701A>T n.772A>T c.5372A>T (p.Glu1791Val) n.99A>T c.4424A>T (p.Glu1475Val) c.5600A>T (p.Glu1867Val) c.5489A>T (p.Glu1830Val) c.5411A>T (p.Glu1804Val) c.5063A>T (p.Glu1688Val) c.4688A>T (p.Glu1563Val) c.5495A>T (p.Glu1832Val) c.5597A>T (p.Glu1866Val) c.5540A>T (p.Glu1847Val) c.5516A>T (p.Glu1839Val) c.5471A>T (p.Glu1824Val) | |
3 | g.53801363A= | CA1365484220 | CACNA1D | c.5406A= (p.Glu1802=) n.2345A= n.781A= c.5346A= (p.Glu1782=) c.5301A= (p.Glu1767=) c.1467A= n.702A= n.773A= c.5373A= (p.Glu1791=) n.100A= c.4425A= (p.Glu1475=) c.5601A= (p.Glu1867=) c.5490A= (p.Glu1830=) c.5412A= (p.Glu1804=) c.5064A= (p.Glu1688=) c.4689A= (p.Glu1563=) c.5496A= (p.Glu1832=) c.5598A= (p.Glu1866=) c.5541A= (p.Glu1847=) c.5517A= (p.Glu1839=) c.5472A= (p.Glu1824=) | |
3 | g.53801363A>C | CA353251604 | CACNA1D | c.5406A>C (p.Glu1802Asp) n.2345A>C n.781A>C c.5346A>C (p.Glu1782Asp) c.5301A>C (p.Glu1767Asp) c.1467A>C n.702A>C n.773A>C c.5373A>C (p.Glu1791Asp) n.100A>C c.4425A>C (p.Glu1475Asp) c.5601A>C (p.Glu1867Asp) c.5490A>C (p.Glu1830Asp) c.5412A>C (p.Glu1804Asp) c.5064A>C (p.Glu1688Asp) c.4689A>C (p.Glu1563Asp) c.5496A>C (p.Glu1832Asp) c.5598A>C (p.Glu1866Asp) c.5541A>C (p.Glu1847Asp) c.5517A>C (p.Glu1839Asp) c.5472A>C (p.Glu1824Asp) | |
3 | g.53801363A>G | CA433804108 | CACNA1D | c.5406A>G (p.Glu1802=) n.2345A>G n.781A>G c.5346A>G (p.Glu1782=) c.5301A>G (p.Glu1767=) c.1467A>G n.702A>G n.773A>G c.5373A>G (p.Glu1791=) n.100A>G c.4425A>G (p.Glu1475=) c.5601A>G (p.Glu1867=) c.5490A>G (p.Glu1830=) c.5412A>G (p.Glu1804=) c.5064A>G (p.Glu1688=) c.4689A>G (p.Glu1563=) c.5496A>G (p.Glu1832=) c.5598A>G (p.Glu1866=) c.5541A>G (p.Glu1847=) c.5517A>G (p.Glu1839=) c.5472A>G (p.Glu1824=) | |
3 | g.53801363A>T | CA74859994 | CACNA1D | c.5406A>T (p.Glu1802Asp) n.2345A>T n.781A>T c.5346A>T (p.Glu1782Asp) c.5301A>T (p.Glu1767Asp) c.1467A>T n.702A>T n.773A>T c.5373A>T (p.Glu1791Asp) n.100A>T c.4425A>T (p.Glu1475Asp) c.5601A>T (p.Glu1867Asp) c.5490A>T (p.Glu1830Asp) c.5412A>T (p.Glu1804Asp) c.5064A>T (p.Glu1688Asp) c.4689A>T (p.Glu1563Asp) c.5496A>T (p.Glu1832Asp) c.5598A>T (p.Glu1866Asp) c.5541A>T (p.Glu1847Asp) c.5517A>T (p.Glu1839Asp) c.5472A>T (p.Glu1824Asp) | dbSNP |
3 | g.53801364A>C | CA353251607 | CACNA1D | c.5407A>C (p.Asn1803His) n.2346A>C n.782A>C c.5347A>C (p.Asn1783His) c.5302A>C (p.Asn1768His) c.1468A>C n.703A>C n.774A>C c.5374A>C (p.Asn1792His) n.101A>C c.4426A>C (p.Asn1476His) c.5602A>C (p.Asn1868His) c.5491A>C (p.Asn1831His) c.5413A>C (p.Asn1805His) c.5065A>C (p.Asn1689His) c.4690A>C (p.Asn1564His) c.5497A>C (p.Asn1833His) c.5599A>C (p.Asn1867His) c.5542A>C (p.Asn1848His) c.5518A>C (p.Asn1840His) c.5473A>C (p.Asn1825His) | |
3 | g.53801364A>G | CA353251609 | CACNA1D | c.5407A>G (p.Asn1803Asp) n.2346A>G n.782A>G c.5347A>G (p.Asn1783Asp) c.5302A>G (p.Asn1768Asp) c.1468A>G n.703A>G n.774A>G c.5374A>G (p.Asn1792Asp) n.101A>G c.4426A>G (p.Asn1476Asp) c.5602A>G (p.Asn1868Asp) c.5491A>G (p.Asn1831Asp) c.5413A>G (p.Asn1805Asp) c.5065A>G (p.Asn1689Asp) c.4690A>G (p.Asn1564Asp) c.5497A>G (p.Asn1833Asp) c.5599A>G (p.Asn1867Asp) c.5542A>G (p.Asn1848Asp) c.5518A>G (p.Asn1840Asp) c.5473A>G (p.Asn1825Asp) | gnomAD v4 |
3 | g.53801364A>T | CA353251611 | CACNA1D | c.5407A>T (p.Asn1803Tyr) n.2346A>T n.782A>T c.5347A>T (p.Asn1783Tyr) c.5302A>T (p.Asn1768Tyr) c.1468A>T n.703A>T n.774A>T c.5374A>T (p.Asn1792Tyr) n.101A>T c.4426A>T (p.Asn1476Tyr) c.5602A>T (p.Asn1868Tyr) c.5491A>T (p.Asn1831Tyr) c.5413A>T (p.Asn1805Tyr) c.5065A>T (p.Asn1689Tyr) c.4690A>T (p.Asn1564Tyr) c.5497A>T (p.Asn1833Tyr) c.5599A>T (p.Asn1867Tyr) c.5542A>T (p.Asn1848Tyr) c.5518A>T (p.Asn1840Tyr) c.5473A>T (p.Asn1825Tyr) | |
3 | g.53801365A= | CA1365484221 | CACNA1D | c.5408A= (p.Asn1803=) n.2347A= n.783A= c.5348A= (p.Asn1783=) c.5303A= (p.Asn1768=) c.1469A= n.704A= n.775A= c.5375A= (p.Asn1792=) n.102A= c.4427A= (p.Asn1476=) c.5603A= (p.Asn1868=) c.5492A= (p.Asn1831=) c.5414A= (p.Asn1805=) c.5066A= (p.Asn1689=) c.4691A= (p.Asn1564=) c.5498A= (p.Asn1833=) c.5600A= (p.Asn1867=) c.5543A= (p.Asn1848=) c.5519A= (p.Asn1840=) c.5474A= (p.Asn1825=) | |
3 | g.53801365A>C | CA353251614 | CACNA1D | c.5408A>C (p.Asn1803Thr) n.2347A>C n.783A>C c.5348A>C (p.Asn1783Thr) c.5303A>C (p.Asn1768Thr) c.1469A>C n.704A>C n.775A>C c.5375A>C (p.Asn1792Thr) n.102A>C c.4427A>C (p.Asn1476Thr) c.5603A>C (p.Asn1868Thr) c.5492A>C (p.Asn1831Thr) c.5414A>C (p.Asn1805Thr) c.5066A>C (p.Asn1689Thr) c.4691A>C (p.Asn1564Thr) c.5498A>C (p.Asn1833Thr) c.5600A>C (p.Asn1867Thr) c.5543A>C (p.Asn1848Thr) c.5519A>C (p.Asn1840Thr) c.5474A>C (p.Asn1825Thr) | |
3 | g.53801365A>G | CA353251615 | CACNA1D | c.5408A>G (p.Asn1803Ser) n.2347A>G n.783A>G c.5348A>G (p.Asn1783Ser) c.5303A>G (p.Asn1768Ser) c.1469A>G n.704A>G n.775A>G c.5375A>G (p.Asn1792Ser) n.102A>G c.4427A>G (p.Asn1476Ser) c.5603A>G (p.Asn1868Ser) c.5492A>G (p.Asn1831Ser) c.5414A>G (p.Asn1805Ser) c.5066A>G (p.Asn1689Ser) c.4691A>G (p.Asn1564Ser) c.5498A>G (p.Asn1833Ser) c.5600A>G (p.Asn1867Ser) c.5543A>G (p.Asn1848Ser) c.5519A>G (p.Asn1840Ser) c.5474A>G (p.Asn1825Ser) | dbSNP |
3 | g.53801365A>T | CA353251618 | CACNA1D | c.5408A>T (p.Asn1803Ile) n.2347A>T n.783A>T c.5348A>T (p.Asn1783Ile) c.5303A>T (p.Asn1768Ile) c.1469A>T n.704A>T n.775A>T c.5375A>T (p.Asn1792Ile) n.102A>T c.4427A>T (p.Asn1476Ile) c.5603A>T (p.Asn1868Ile) c.5492A>T (p.Asn1831Ile) c.5414A>T (p.Asn1805Ile) c.5066A>T (p.Asn1689Ile) c.4691A>T (p.Asn1564Ile) c.5498A>T (p.Asn1833Ile) c.5600A>T (p.Asn1867Ile) c.5543A>T (p.Asn1848Ile) c.5519A>T (p.Asn1840Ile) c.5474A>T (p.Asn1825Ile) | |
3 | g.53801366T>A | CA353251619 | CACNA1D | c.5409T>A (p.Asn1803Lys) n.2348T>A n.784T>A c.5349T>A (p.Asn1783Lys) c.5304T>A (p.Asn1768Lys) c.1470T>A n.705T>A n.776T>A c.5376T>A (p.Asn1792Lys) n.103T>A c.4428T>A (p.Asn1476Lys) c.5604T>A (p.Asn1868Lys) c.5493T>A (p.Asn1831Lys) c.5415T>A (p.Asn1805Lys) c.5067T>A (p.Asn1689Lys) c.4692T>A (p.Asn1564Lys) c.5499T>A (p.Asn1833Lys) c.5601T>A (p.Asn1867Lys) c.5544T>A (p.Asn1848Lys) c.5520T>A (p.Asn1840Lys) c.5475T>A (p.Asn1825Lys) | ClinVar dbSNP gnomAD v4 |
3 | g.53801366T>C | CA433804109 | CACNA1D | c.5409T>C (p.Asn1803=) n.2348T>C n.784T>C c.5349T>C (p.Asn1783=) c.5304T>C (p.Asn1768=) c.1470T>C n.705T>C n.776T>C c.5376T>C (p.Asn1792=) n.103T>C c.4428T>C (p.Asn1476=) c.5604T>C (p.Asn1868=) c.5493T>C (p.Asn1831=) c.5415T>C (p.Asn1805=) c.5067T>C (p.Asn1689=) c.4692T>C (p.Asn1564=) c.5499T>C (p.Asn1833=) c.5601T>C (p.Asn1867=) c.5544T>C (p.Asn1848=) c.5520T>C (p.Asn1840=) c.5475T>C (p.Asn1825=) | |
3 | g.53801366T>G | CA353251621 | CACNA1D | c.5409T>G (p.Asn1803Lys) n.2348T>G n.784T>G c.5349T>G (p.Asn1783Lys) c.5304T>G (p.Asn1768Lys) c.1470T>G n.705T>G n.776T>G c.5376T>G (p.Asn1792Lys) n.103T>G c.4428T>G (p.Asn1476Lys) c.5604T>G (p.Asn1868Lys) c.5493T>G (p.Asn1831Lys) c.5415T>G (p.Asn1805Lys) c.5067T>G (p.Asn1689Lys) c.4692T>G (p.Asn1564Lys) c.5499T>G (p.Asn1833Lys) c.5601T>G (p.Asn1867Lys) c.5544T>G (p.Asn1848Lys) c.5520T>G (p.Asn1840Lys) c.5475T>G (p.Asn1825Lys) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.53801366T= | CA1365484222 | CACNA1D | c.5409T= (p.Asn1803=) n.2348T= n.784T= c.5349T= (p.Asn1783=) c.5304T= (p.Asn1768=) c.1470T= n.705T= n.776T= c.5376T= (p.Asn1792=) n.103T= c.4428T= (p.Asn1476=) c.5604T= (p.Asn1868=) c.5493T= (p.Asn1831=) c.5415T= (p.Asn1805=) c.5067T= (p.Asn1689=) c.4692T= (p.Asn1564=) c.5499T= (p.Asn1833=) c.5601T= (p.Asn1867=) c.5544T= (p.Asn1848=) c.5520T= (p.Asn1840=) c.5475T= (p.Asn1825=) | |
3 | g.53801367G>A | CA353251624 | CACNA1D | c.5410G>A (p.Gly1804Arg) n.2349G>A n.785G>A c.5350G>A (p.Gly1784Arg) c.5305G>A (p.Gly1769Arg) c.1471G>A n.706G>A n.777G>A c.5377G>A (p.Gly1793Arg) n.104G>A c.4429G>A (p.Gly1477Arg) c.5605G>A (p.Gly1869Arg) c.5494G>A (p.Gly1832Arg) c.5416G>A (p.Gly1806Arg) c.5068G>A (p.Gly1690Arg) c.4693G>A (p.Gly1565Arg) c.5500G>A (p.Gly1834Arg) c.5602G>A (p.Gly1868Arg) c.5545G>A (p.Gly1849Arg) c.5521G>A (p.Gly1841Arg) c.5476G>A (p.Gly1826Arg) | gnomAD v4 |
3 | g.53801367G>C | CA353251628 | CACNA1D | c.5410G>C (p.Gly1804Arg) n.2349G>C n.785G>C c.5350G>C (p.Gly1784Arg) c.5305G>C (p.Gly1769Arg) c.1471G>C n.706G>C n.777G>C c.5377G>C (p.Gly1793Arg) n.104G>C c.4429G>C (p.Gly1477Arg) c.5605G>C (p.Gly1869Arg) c.5494G>C (p.Gly1832Arg) c.5416G>C (p.Gly1806Arg) c.5068G>C (p.Gly1690Arg) c.4693G>C (p.Gly1565Arg) c.5500G>C (p.Gly1834Arg) c.5602G>C (p.Gly1868Arg) c.5545G>C (p.Gly1849Arg) c.5521G>C (p.Gly1841Arg) c.5476G>C (p.Gly1826Arg) | |
3 | g.53801367G>T | CA353251626 | CACNA1D | c.5410G>T (p.Gly1804Trp) n.2349G>T n.785G>T c.5350G>T (p.Gly1784Trp) c.5305G>T (p.Gly1769Trp) c.1471G>T n.706G>T n.777G>T c.5377G>T (p.Gly1793Trp) n.104G>T c.4429G>T (p.Gly1477Trp) c.5605G>T (p.Gly1869Trp) c.5494G>T (p.Gly1832Trp) c.5416G>T (p.Gly1806Trp) c.5068G>T (p.Gly1690Trp) c.4693G>T (p.Gly1565Trp) c.5500G>T (p.Gly1834Trp) c.5602G>T (p.Gly1868Trp) c.5545G>T (p.Gly1849Trp) c.5521G>T (p.Gly1841Trp) c.5476G>T (p.Gly1826Trp) | |
3 | g.53801368G>A | CA353251630 | CACNA1D | c.5411G>A (p.Gly1804Glu) n.2350G>A n.786G>A c.5351G>A (p.Gly1784Glu) c.5306G>A (p.Gly1769Glu) c.1472G>A n.707G>A n.778G>A c.5378G>A (p.Gly1793Glu) n.105G>A c.4430G>A (p.Gly1477Glu) c.5606G>A (p.Gly1869Glu) c.5495G>A (p.Gly1832Glu) c.5417G>A (p.Gly1806Glu) c.5069G>A (p.Gly1690Glu) c.4694G>A (p.Gly1565Glu) c.5501G>A (p.Gly1834Glu) c.5603G>A (p.Gly1868Glu) c.5546G>A (p.Gly1849Glu) c.5522G>A (p.Gly1841Glu) c.5477G>A (p.Gly1826Glu) | |
3 | g.53801368G>C | CA353251632 | CACNA1D | c.5411G>C (p.Gly1804Ala) n.2350G>C n.786G>C c.5351G>C (p.Gly1784Ala) c.5306G>C (p.Gly1769Ala) c.1472G>C n.707G>C n.778G>C c.5378G>C (p.Gly1793Ala) n.105G>C c.4430G>C (p.Gly1477Ala) c.5606G>C (p.Gly1869Ala) c.5495G>C (p.Gly1832Ala) c.5417G>C (p.Gly1806Ala) c.5069G>C (p.Gly1690Ala) c.4694G>C (p.Gly1565Ala) c.5501G>C (p.Gly1834Ala) c.5603G>C (p.Gly1868Ala) c.5546G>C (p.Gly1849Ala) c.5522G>C (p.Gly1841Ala) c.5477G>C (p.Gly1826Ala) | gnomAD v4 |
3 | g.53801368G>T | CA353251634 | CACNA1D | c.5411G>T (p.Gly1804Val) n.2350G>T n.786G>T c.5351G>T (p.Gly1784Val) c.5306G>T (p.Gly1769Val) c.1472G>T n.707G>T n.778G>T c.5378G>T (p.Gly1793Val) n.105G>T c.4430G>T (p.Gly1477Val) c.5606G>T (p.Gly1869Val) c.5495G>T (p.Gly1832Val) c.5417G>T (p.Gly1806Val) c.5069G>T (p.Gly1690Val) c.4694G>T (p.Gly1565Val) c.5501G>T (p.Gly1834Val) c.5603G>T (p.Gly1868Val) c.5546G>T (p.Gly1849Val) c.5522G>T (p.Gly1841Val) c.5477G>T (p.Gly1826Val) | |
3 | g.53801369G>A | CA433804110 | CACNA1D | c.5412G>A (p.Gly1804=) n.2351G>A n.787G>A c.5352G>A (p.Gly1784=) c.5307G>A (p.Gly1769=) c.1473G>A n.708G>A n.779G>A c.5379G>A (p.Gly1793=) n.106G>A c.4431G>A (p.Gly1477=) c.5607G>A (p.Gly1869=) c.5496G>A (p.Gly1832=) c.5418G>A (p.Gly1806=) c.5070G>A (p.Gly1690=) c.4695G>A (p.Gly1565=) c.5502G>A (p.Gly1834=) c.5604G>A (p.Gly1868=) c.5547G>A (p.Gly1849=) c.5523G>A (p.Gly1841=) c.5478G>A (p.Gly1826=) | gnomAD v4 |
3 | g.53801369G>C | CA2455108 | CACNA1D | c.5412G>C (p.Gly1804=) n.2351G>C n.787G>C c.5352G>C (p.Gly1784=) c.5307G>C (p.Gly1769=) c.1473G>C n.708G>C n.779G>C c.5379G>C (p.Gly1793=) n.106G>C c.4431G>C (p.Gly1477=) c.5607G>C (p.Gly1869=) c.5496G>C (p.Gly1832=) c.5418G>C (p.Gly1806=) c.5070G>C (p.Gly1690=) c.4695G>C (p.Gly1565=) c.5502G>C (p.Gly1834=) c.5604G>C (p.Gly1868=) c.5547G>C (p.Gly1849=) c.5523G>C (p.Gly1841=) c.5478G>C (p.Gly1826=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.53801369G= | CA1365484223 | CACNA1D | c.5412G= (p.Gly1804=) n.2351G= n.787G= c.5352G= (p.Gly1784=) c.5307G= (p.Gly1769=) c.1473G= n.708G= n.779G= c.5379G= (p.Gly1793=) n.106G= c.4431G= (p.Gly1477=) c.5607G= (p.Gly1869=) c.5496G= (p.Gly1832=) c.5418G= (p.Gly1806=) c.5070G= (p.Gly1690=) c.4695G= (p.Gly1565=) c.5502G= (p.Gly1834=) c.5604G= (p.Gly1868=) c.5547G= (p.Gly1849=) c.5523G= (p.Gly1841=) c.5478G= (p.Gly1826=) | |
3 | g.53801369G>T | CA433804111 | CACNA1D | c.5412G>T (p.Gly1804=) n.2351G>T n.787G>T c.5352G>T (p.Gly1784=) c.5307G>T (p.Gly1769=) c.1473G>T n.708G>T n.779G>T c.5379G>T (p.Gly1793=) n.106G>T c.4431G>T (p.Gly1477=) c.5607G>T (p.Gly1869=) c.5496G>T (p.Gly1832=) c.5418G>T (p.Gly1806=) c.5070G>T (p.Gly1690=) c.4695G>T (p.Gly1565=) c.5502G>T (p.Gly1834=) c.5604G>T (p.Gly1868=) c.5547G>T (p.Gly1849=) c.5523G>T (p.Gly1841=) c.5478G>T (p.Gly1826=) | gnomAD v4 |
3 | g.53801370C>A | CA353251638 | CACNA1D | c.5413C>A (p.His1805Asn) n.2352C>A n.788C>A c.5353C>A (p.His1785Asn) c.5308C>A (p.His1770Asn) c.1474C>A n.709C>A n.780C>A c.5380C>A (p.His1794Asn) n.107C>A c.4432C>A (p.His1478Asn) c.5608C>A (p.His1870Asn) c.5497C>A (p.His1833Asn) c.5419C>A (p.His1807Asn) c.5071C>A (p.His1691Asn) c.4696C>A (p.His1566Asn) c.5503C>A (p.His1835Asn) c.5605C>A (p.His1869Asn) c.5548C>A (p.His1850Asn) c.5524C>A (p.His1842Asn) c.5479C>A (p.His1827Asn) | |
3 | g.53801370C>G | CA353251640 | CACNA1D | c.5413C>G (p.His1805Asp) n.2352C>G n.788C>G c.5353C>G (p.His1785Asp) c.5308C>G (p.His1770Asp) c.1474C>G n.709C>G n.780C>G c.5380C>G (p.His1794Asp) n.107C>G c.4432C>G (p.His1478Asp) c.5608C>G (p.His1870Asp) c.5497C>G (p.His1833Asp) c.5419C>G (p.His1807Asp) c.5071C>G (p.His1691Asp) c.4696C>G (p.His1566Asp) c.5503C>G (p.His1835Asp) c.5605C>G (p.His1869Asp) c.5548C>G (p.His1850Asp) c.5524C>G (p.His1842Asp) c.5479C>G (p.His1827Asp) | |
3 | g.53801370C>T | CA353251641 | CACNA1D | c.5413C>T (p.His1805Tyr) n.2352C>T n.788C>T c.5353C>T (p.His1785Tyr) c.5308C>T (p.His1770Tyr) c.1474C>T n.709C>T n.780C>T c.5380C>T (p.His1794Tyr) n.107C>T c.4432C>T (p.His1478Tyr) c.5608C>T (p.His1870Tyr) c.5497C>T (p.His1833Tyr) c.5419C>T (p.His1807Tyr) c.5071C>T (p.His1691Tyr) c.4696C>T (p.His1566Tyr) c.5503C>T (p.His1835Tyr) c.5605C>T (p.His1869Tyr) c.5548C>T (p.His1850Tyr) c.5524C>T (p.His1842Tyr) c.5479C>T (p.His1827Tyr) | |
3 | g.53801371A>C | CA353251644 | CACNA1D | c.5414A>C (p.His1805Pro) n.2353A>C n.789A>C c.5354A>C (p.His1785Pro) c.5309A>C (p.His1770Pro) c.1475A>C n.710A>C n.781A>C c.5381A>C (p.His1794Pro) n.108A>C c.4433A>C (p.His1478Pro) c.5609A>C (p.His1870Pro) c.5498A>C (p.His1833Pro) c.5420A>C (p.His1807Pro) c.5072A>C (p.His1691Pro) c.4697A>C (p.His1566Pro) c.5504A>C (p.His1835Pro) c.5606A>C (p.His1869Pro) c.5549A>C (p.His1850Pro) c.5525A>C (p.His1842Pro) c.5480A>C (p.His1827Pro) | |
3 | g.53801371A>G | CA353251646 | CACNA1D | c.5414A>G (p.His1805Arg) n.2353A>G n.789A>G c.5354A>G (p.His1785Arg) c.5309A>G (p.His1770Arg) c.1475A>G n.710A>G n.781A>G c.5381A>G (p.His1794Arg) n.108A>G c.4433A>G (p.His1478Arg) c.5609A>G (p.His1870Arg) c.5498A>G (p.His1833Arg) c.5420A>G (p.His1807Arg) c.5072A>G (p.His1691Arg) c.4697A>G (p.His1566Arg) c.5504A>G (p.His1835Arg) c.5606A>G (p.His1869Arg) c.5549A>G (p.His1850Arg) c.5525A>G (p.His1842Arg) c.5480A>G (p.His1827Arg) | |
3 | g.53801371A>T | CA353251647 | CACNA1D | c.5414A>T (p.His1805Leu) n.2353A>T n.789A>T c.5354A>T (p.His1785Leu) c.5309A>T (p.His1770Leu) c.1475A>T n.710A>T n.781A>T c.5381A>T (p.His1794Leu) n.108A>T c.4433A>T (p.His1478Leu) c.5609A>T (p.His1870Leu) c.5498A>T (p.His1833Leu) c.5420A>T (p.His1807Leu) c.5072A>T (p.His1691Leu) c.4697A>T (p.His1566Leu) c.5504A>T (p.His1835Leu) c.5606A>T (p.His1869Leu) c.5549A>T (p.His1850Leu) c.5525A>T (p.His1842Leu) c.5480A>T (p.His1827Leu) | |
3 | g.53801372T>A | CA353251651 | CACNA1D | c.5415T>A (p.His1805Gln) n.2354T>A n.790T>A c.5355T>A (p.His1785Gln) c.5310T>A (p.His1770Gln) c.1476T>A n.711T>A n.782T>A c.5382T>A (p.His1794Gln) n.109T>A c.4434T>A (p.His1478Gln) c.5610T>A (p.His1870Gln) c.5499T>A (p.His1833Gln) c.5421T>A (p.His1807Gln) c.5073T>A (p.His1691Gln) c.4698T>A (p.His1566Gln) c.5505T>A (p.His1835Gln) c.5607T>A (p.His1869Gln) c.5550T>A (p.His1850Gln) c.5526T>A (p.His1842Gln) c.5481T>A (p.His1827Gln) | |
3 | g.53801372T>C | CA433804112 | CACNA1D | c.5415T>C (p.His1805=) n.2354T>C n.790T>C c.5355T>C (p.His1785=) c.5310T>C (p.His1770=) c.1476T>C n.711T>C n.782T>C c.5382T>C (p.His1794=) n.109T>C c.4434T>C (p.His1478=) c.5610T>C (p.His1870=) c.5499T>C (p.His1833=) c.5421T>C (p.His1807=) c.5073T>C (p.His1691=) c.4698T>C (p.His1566=) c.5505T>C (p.His1835=) c.5607T>C (p.His1869=) c.5550T>C (p.His1850=) c.5526T>C (p.His1842=) c.5481T>C (p.His1827=) | |
3 | g.53801372T>G | CA353251650 | CACNA1D | c.5415T>G (p.His1805Gln) n.2354T>G n.790T>G c.5355T>G (p.His1785Gln) c.5310T>G (p.His1770Gln) c.1476T>G n.711T>G n.782T>G c.5382T>G (p.His1794Gln) n.109T>G c.4434T>G (p.His1478Gln) c.5610T>G (p.His1870Gln) c.5499T>G (p.His1833Gln) c.5421T>G (p.His1807Gln) c.5073T>G (p.His1691Gln) c.4698T>G (p.His1566Gln) c.5505T>G (p.His1835Gln) c.5607T>G (p.His1869Gln) c.5550T>G (p.His1850Gln) c.5526T>G (p.His1842Gln) c.5481T>G (p.His1827Gln) | |
3 | g.53801373C>A | CA353251654 | CACNA1D | c.5416C>A (p.His1806Asn) n.2355C>A n.791C>A c.5356C>A (p.His1786Asn) c.5311C>A (p.His1771Asn) c.1477C>A n.712C>A n.783C>A c.5383C>A (p.His1795Asn) n.110C>A c.4435C>A (p.His1479Asn) c.5611C>A (p.His1871Asn) c.5500C>A (p.His1834Asn) c.5422C>A (p.His1808Asn) c.5074C>A (p.His1692Asn) c.4699C>A (p.His1567Asn) c.5506C>A (p.His1836Asn) c.5608C>A (p.His1870Asn) c.5551C>A (p.His1851Asn) c.5527C>A (p.His1843Asn) c.5482C>A (p.His1828Asn) | |
3 | g.53801373C>G | CA353251656 | CACNA1D | c.5416C>G (p.His1806Asp) n.2355C>G n.791C>G c.5356C>G (p.His1786Asp) c.5311C>G (p.His1771Asp) c.1477C>G n.712C>G n.783C>G c.5383C>G (p.His1795Asp) n.110C>G c.4435C>G (p.His1479Asp) c.5611C>G (p.His1871Asp) c.5500C>G (p.His1834Asp) c.5422C>G (p.His1808Asp) c.5074C>G (p.His1692Asp) c.4699C>G (p.His1567Asp) c.5506C>G (p.His1836Asp) c.5608C>G (p.His1870Asp) c.5551C>G (p.His1851Asp) c.5527C>G (p.His1843Asp) c.5482C>G (p.His1828Asp) | |
3 | g.53801373C>T | CA353251657 | CACNA1D | c.5416C>T (p.His1806Tyr) n.2355C>T n.791C>T c.5356C>T (p.His1786Tyr) c.5311C>T (p.His1771Tyr) c.1477C>T n.712C>T n.783C>T c.5383C>T (p.His1795Tyr) n.110C>T c.4435C>T (p.His1479Tyr) c.5611C>T (p.His1871Tyr) c.5500C>T (p.His1834Tyr) c.5422C>T (p.His1808Tyr) c.5074C>T (p.His1692Tyr) c.4699C>T (p.His1567Tyr) c.5506C>T (p.His1836Tyr) c.5608C>T (p.His1870Tyr) c.5551C>T (p.His1851Tyr) c.5527C>T (p.His1843Tyr) c.5482C>T (p.His1828Tyr) | |
3 | g.53801374A= | CA1365484224 | CACNA1D | c.5417A= (p.His1806=) n.2356A= n.792A= c.5357A= (p.His1786=) c.5312A= (p.His1771=) c.1478A= n.713A= n.784A= c.5384A= (p.His1795=) n.111A= c.4436A= (p.His1479=) c.5612A= (p.His1871=) c.5501A= (p.His1834=) c.5423A= (p.His1808=) c.5075A= (p.His1692=) c.4700A= (p.His1567=) c.5507A= (p.His1836=) c.5609A= (p.His1870=) c.5552A= (p.His1851=) c.5528A= (p.His1843=) c.5483A= (p.His1828=) | |
3 | g.53801374A>C | CA353251660 | CACNA1D | c.5417A>C (p.His1806Pro) n.2356A>C n.792A>C c.5357A>C (p.His1786Pro) c.5312A>C (p.His1771Pro) c.1478A>C n.713A>C n.784A>C c.5384A>C (p.His1795Pro) n.111A>C c.4436A>C (p.His1479Pro) c.5612A>C (p.His1871Pro) c.5501A>C (p.His1834Pro) c.5423A>C (p.His1808Pro) c.5075A>C (p.His1692Pro) c.4700A>C (p.His1567Pro) c.5507A>C (p.His1836Pro) c.5609A>C (p.His1870Pro) c.5552A>C (p.His1851Pro) c.5528A>C (p.His1843Pro) c.5483A>C (p.His1828Pro) | ClinVar dbSNP gnomAD v4 |
3 | g.53801374A>G | CA353251662 | CACNA1D | c.5417A>G (p.His1806Arg) n.2356A>G n.792A>G c.5357A>G (p.His1786Arg) c.5312A>G (p.His1771Arg) c.1478A>G n.713A>G n.784A>G c.5384A>G (p.His1795Arg) n.111A>G c.4436A>G (p.His1479Arg) c.5612A>G (p.His1871Arg) c.5501A>G (p.His1834Arg) c.5423A>G (p.His1808Arg) c.5075A>G (p.His1692Arg) c.4700A>G (p.His1567Arg) c.5507A>G (p.His1836Arg) c.5609A>G (p.His1870Arg) c.5552A>G (p.His1851Arg) c.5528A>G (p.His1843Arg) c.5483A>G (p.His1828Arg) | ClinVar dbSNP |
3 | g.53801374A>T | CA353251663 | CACNA1D | c.5417A>T (p.His1806Leu) n.2356A>T n.792A>T c.5357A>T (p.His1786Leu) c.5312A>T (p.His1771Leu) c.1478A>T n.713A>T n.784A>T c.5384A>T (p.His1795Leu) n.111A>T c.4436A>T (p.His1479Leu) c.5612A>T (p.His1871Leu) c.5501A>T (p.His1834Leu) c.5423A>T (p.His1808Leu) c.5075A>T (p.His1692Leu) c.4700A>T (p.His1567Leu) c.5507A>T (p.His1836Leu) c.5609A>T (p.His1870Leu) c.5552A>T (p.His1851Leu) c.5528A>T (p.His1843Leu) c.5483A>T (p.His1828Leu) | |
3 | g.53801375T>A | CA353251667 | CACNA1D | c.5418T>A (p.His1806Gln) n.2357T>A n.793T>A c.5358T>A (p.His1786Gln) c.5313T>A (p.His1771Gln) c.1479T>A n.714T>A n.785T>A c.5385T>A (p.His1795Gln) n.112T>A c.4437T>A (p.His1479Gln) c.5613T>A (p.His1871Gln) c.5502T>A (p.His1834Gln) c.5424T>A (p.His1808Gln) c.5076T>A (p.His1692Gln) c.4701T>A (p.His1567Gln) c.5508T>A (p.His1836Gln) c.5610T>A (p.His1870Gln) c.5553T>A (p.His1851Gln) c.5529T>A (p.His1843Gln) c.5484T>A (p.His1828Gln) | |
3 | g.53801375T>C | CA433804113 | CACNA1D | c.5418T>C (p.His1806=) n.2357T>C n.793T>C c.5358T>C (p.His1786=) c.5313T>C (p.His1771=) c.1479T>C n.714T>C n.785T>C c.5385T>C (p.His1795=) n.112T>C c.4437T>C (p.His1479=) c.5613T>C (p.His1871=) c.5502T>C (p.His1834=) c.5424T>C (p.His1808=) c.5076T>C (p.His1692=) c.4701T>C (p.His1567=) c.5508T>C (p.His1836=) c.5610T>C (p.His1870=) c.5553T>C (p.His1851=) c.5529T>C (p.His1843=) c.5484T>C (p.His1828=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.53801375T>G | CA353251665 | CACNA1D | c.5418T>G (p.His1806Gln) n.2357T>G n.793T>G c.5358T>G (p.His1786Gln) c.5313T>G (p.His1771Gln) c.1479T>G n.714T>G n.785T>G c.5385T>G (p.His1795Gln) n.112T>G c.4437T>G (p.His1479Gln) c.5613T>G (p.His1871Gln) c.5502T>G (p.His1834Gln) c.5424T>G (p.His1808Gln) c.5076T>G (p.His1692Gln) c.4701T>G (p.His1567Gln) c.5508T>G (p.His1836Gln) c.5610T>G (p.His1870Gln) c.5553T>G (p.His1851Gln) c.5529T>G (p.His1843Gln) c.5484T>G (p.His1828Gln) | |
3 | g.53801375T= | CA1365484225 | CACNA1D | c.5418T= (p.His1806=) n.2357T= n.793T= c.5358T= (p.His1786=) c.5313T= (p.His1771=) c.1479T= n.714T= n.785T= c.5385T= (p.His1795=) n.112T= c.4437T= (p.His1479=) c.5613T= (p.His1871=) c.5502T= (p.His1834=) c.5424T= (p.His1808=) c.5076T= (p.His1692=) c.4701T= (p.His1567=) c.5508T= (p.His1836=) c.5610T= (p.His1870=) c.5553T= (p.His1851=) c.5529T= (p.His1843=) c.5484T= (p.His1828=) | |
3 | g.53801376T>A | CA353251669 | CACNA1D | c.5419T>A (p.Ser1807Thr) n.2358T>A n.794T>A c.5359T>A (p.Ser1787Thr) c.5314T>A (p.Ser1772Thr) c.1480T>A n.715T>A n.786T>A c.5386T>A (p.Ser1796Thr) n.113T>A c.4438T>A (p.Ser1480Thr) c.5614T>A (p.Ser1872Thr) c.5503T>A (p.Ser1835Thr) c.5425T>A (p.Ser1809Thr) c.5077T>A (p.Ser1693Thr) c.4702T>A (p.Ser1568Thr) c.5509T>A (p.Ser1837Thr) c.5611T>A (p.Ser1871Thr) c.5554T>A (p.Ser1852Thr) c.5530T>A (p.Ser1844Thr) c.5485T>A (p.Ser1829Thr) | |
3 | g.53801376T>C | CA353251671 | CACNA1D | c.5419T>C (p.Ser1807Pro) n.2358T>C n.794T>C c.5359T>C (p.Ser1787Pro) c.5314T>C (p.Ser1772Pro) c.1480T>C n.715T>C n.786T>C c.5386T>C (p.Ser1796Pro) n.113T>C c.4438T>C (p.Ser1480Pro) c.5614T>C (p.Ser1872Pro) c.5503T>C (p.Ser1835Pro) c.5425T>C (p.Ser1809Pro) c.5077T>C (p.Ser1693Pro) c.4702T>C (p.Ser1568Pro) c.5509T>C (p.Ser1837Pro) c.5611T>C (p.Ser1871Pro) c.5554T>C (p.Ser1852Pro) c.5530T>C (p.Ser1844Pro) c.5485T>C (p.Ser1829Pro) | |
3 | g.53801376T>G | CA353251673 | CACNA1D | c.5419T>G (p.Ser1807Ala) n.2358T>G n.794T>G c.5359T>G (p.Ser1787Ala) c.5314T>G (p.Ser1772Ala) c.1480T>G n.715T>G n.786T>G c.5386T>G (p.Ser1796Ala) n.113T>G c.4438T>G (p.Ser1480Ala) c.5614T>G (p.Ser1872Ala) c.5503T>G (p.Ser1835Ala) c.5425T>G (p.Ser1809Ala) c.5077T>G (p.Ser1693Ala) c.4702T>G (p.Ser1568Ala) c.5509T>G (p.Ser1837Ala) c.5611T>G (p.Ser1871Ala) c.5554T>G (p.Ser1852Ala) c.5530T>G (p.Ser1844Ala) c.5485T>G (p.Ser1829Ala) | |
3 | g.53801377C>A | CA353251675 | CACNA1D | c.5420C>A (p.Ser1807Tyr) n.2359C>A n.795C>A c.5360C>A (p.Ser1787Tyr) c.5315C>A (p.Ser1772Tyr) c.1481C>A n.716C>A n.787C>A c.5387C>A (p.Ser1796Tyr) n.114C>A c.4439C>A (p.Ser1480Tyr) c.5615C>A (p.Ser1872Tyr) c.5504C>A (p.Ser1835Tyr) c.5426C>A (p.Ser1809Tyr) c.5078C>A (p.Ser1693Tyr) c.4703C>A (p.Ser1568Tyr) c.5510C>A (p.Ser1837Tyr) c.5612C>A (p.Ser1871Tyr) c.5555C>A (p.Ser1852Tyr) c.5531C>A (p.Ser1844Tyr) c.5486C>A (p.Ser1829Tyr) | |
3 | g.53801377C>G | CA353251676 | CACNA1D | c.5420C>G (p.Ser1807Cys) n.2359C>G n.795C>G c.5360C>G (p.Ser1787Cys) c.5315C>G (p.Ser1772Cys) c.1481C>G n.716C>G n.787C>G c.5387C>G (p.Ser1796Cys) n.114C>G c.4439C>G (p.Ser1480Cys) c.5615C>G (p.Ser1872Cys) c.5504C>G (p.Ser1835Cys) c.5426C>G (p.Ser1809Cys) c.5078C>G (p.Ser1693Cys) c.4703C>G (p.Ser1568Cys) c.5510C>G (p.Ser1837Cys) c.5612C>G (p.Ser1871Cys) c.5555C>G (p.Ser1852Cys) c.5531C>G (p.Ser1844Cys) c.5486C>G (p.Ser1829Cys) | |
3 | g.53801377C>T | CA353251677 | CACNA1D | c.5420C>T (p.Ser1807Phe) n.2359C>T n.795C>T c.5360C>T (p.Ser1787Phe) c.5315C>T (p.Ser1772Phe) c.1481C>T n.716C>T n.787C>T c.5387C>T (p.Ser1796Phe) n.114C>T c.4439C>T (p.Ser1480Phe) c.5615C>T (p.Ser1872Phe) c.5504C>T (p.Ser1835Phe) c.5426C>T (p.Ser1809Phe) c.5078C>T (p.Ser1693Phe) c.4703C>T (p.Ser1568Phe) c.5510C>T (p.Ser1837Phe) c.5612C>T (p.Ser1871Phe) c.5555C>T (p.Ser1852Phe) c.5531C>T (p.Ser1844Phe) c.5486C>T (p.Ser1829Phe) | |
3 | g.53801378T>A | CA433804114 | CACNA1D | c.5421T>A (p.Ser1807=) n.2360T>A n.796T>A c.5361T>A (p.Ser1787=) c.5316T>A (p.Ser1772=) c.1482T>A n.717T>A n.788T>A c.5388T>A (p.Ser1796=) n.115T>A c.4440T>A (p.Ser1480=) c.5616T>A (p.Ser1872=) c.5505T>A (p.Ser1835=) c.5427T>A (p.Ser1809=) c.5079T>A (p.Ser1693=) c.4704T>A (p.Ser1568=) c.5511T>A (p.Ser1837=) c.5613T>A (p.Ser1871=) c.5556T>A (p.Ser1852=) c.5532T>A (p.Ser1844=) c.5487T>A (p.Ser1829=) | |
3 | g.53801378T>C | CA433804115 | CACNA1D | c.5421T>C (p.Ser1807=) n.2360T>C n.796T>C c.5361T>C (p.Ser1787=) c.5316T>C (p.Ser1772=) c.1482T>C n.717T>C n.788T>C c.5388T>C (p.Ser1796=) n.115T>C c.4440T>C (p.Ser1480=) c.5616T>C (p.Ser1872=) c.5505T>C (p.Ser1835=) c.5427T>C (p.Ser1809=) c.5079T>C (p.Ser1693=) c.4704T>C (p.Ser1568=) c.5511T>C (p.Ser1837=) c.5613T>C (p.Ser1871=) c.5556T>C (p.Ser1852=) c.5532T>C (p.Ser1844=) c.5487T>C (p.Ser1829=) | dbSNP gnomAD v4 |
3 | g.53801378T>G | CA433804116 | CACNA1D | c.5421T>G (p.Ser1807=) n.2360T>G n.796T>G c.5361T>G (p.Ser1787=) c.5316T>G (p.Ser1772=) c.1482T>G n.717T>G n.788T>G c.5388T>G (p.Ser1796=) n.115T>G c.4440T>G (p.Ser1480=) c.5616T>G (p.Ser1872=) c.5505T>G (p.Ser1835=) c.5427T>G (p.Ser1809=) c.5079T>G (p.Ser1693=) c.4704T>G (p.Ser1568=) c.5511T>G (p.Ser1837=) c.5613T>G (p.Ser1871=) c.5556T>G (p.Ser1852=) c.5532T>G (p.Ser1844=) c.5487T>G (p.Ser1829=) | |
3 | g.53801378T= | CA1365484226 | CACNA1D | c.5421T= (p.Ser1807=) n.2360T= n.796T= c.5361T= (p.Ser1787=) c.5316T= (p.Ser1772=) c.1482T= n.717T= n.788T= c.5388T= (p.Ser1796=) n.115T= c.4440T= (p.Ser1480=) c.5616T= (p.Ser1872=) c.5505T= (p.Ser1835=) c.5427T= (p.Ser1809=) c.5079T= (p.Ser1693=) c.4704T= (p.Ser1568=) c.5511T= (p.Ser1837=) c.5613T= (p.Ser1871=) c.5556T= (p.Ser1852=) c.5532T= (p.Ser1844=) c.5487T= (p.Ser1829=) | |
3 | g.53801379T>A | CA353251678 | CACNA1D | c.5422T>A (p.Ser1808Thr) n.2361T>A n.797T>A c.5362T>A (p.Ser1788Thr) c.5317T>A (p.Ser1773Thr) c.1483T>A n.718T>A n.789T>A c.5389T>A (p.Ser1797Thr) n.116T>A c.4441T>A (p.Ser1481Thr) c.5617T>A (p.Ser1873Thr) c.5506T>A (p.Ser1836Thr) c.5428T>A (p.Ser1810Thr) c.5080T>A (p.Ser1694Thr) c.4705T>A (p.Ser1569Thr) c.5512T>A (p.Ser1838Thr) c.5614T>A (p.Ser1872Thr) c.5557T>A (p.Ser1853Thr) c.5533T>A (p.Ser1845Thr) c.5488T>A (p.Ser1830Thr) | |
3 | g.53801379T>C | CA353251681 | CACNA1D | c.5422T>C (p.Ser1808Pro) n.2361T>C n.797T>C c.5362T>C (p.Ser1788Pro) c.5317T>C (p.Ser1773Pro) c.1483T>C n.718T>C n.789T>C c.5389T>C (p.Ser1797Pro) n.116T>C c.4441T>C (p.Ser1481Pro) c.5617T>C (p.Ser1873Pro) c.5506T>C (p.Ser1836Pro) c.5428T>C (p.Ser1810Pro) c.5080T>C (p.Ser1694Pro) c.4705T>C (p.Ser1569Pro) c.5512T>C (p.Ser1838Pro) c.5614T>C (p.Ser1872Pro) c.5557T>C (p.Ser1853Pro) c.5533T>C (p.Ser1845Pro) c.5488T>C (p.Ser1830Pro) | |
3 | g.53801379T>G | CA353251680 | CACNA1D | c.5422T>G (p.Ser1808Ala) n.2361T>G n.797T>G c.5362T>G (p.Ser1788Ala) c.5317T>G (p.Ser1773Ala) c.1483T>G n.718T>G n.789T>G c.5389T>G (p.Ser1797Ala) n.116T>G c.4441T>G (p.Ser1481Ala) c.5617T>G (p.Ser1873Ala) c.5506T>G (p.Ser1836Ala) c.5428T>G (p.Ser1810Ala) c.5080T>G (p.Ser1694Ala) c.4705T>G (p.Ser1569Ala) c.5512T>G (p.Ser1838Ala) c.5614T>G (p.Ser1872Ala) c.5557T>G (p.Ser1853Ala) c.5533T>G (p.Ser1845Ala) c.5488T>G (p.Ser1830Ala) | |
3 | g.53801380C>A | CA353251684 | CACNA1D | c.5423C>A (p.Ser1808Tyr) n.2362C>A n.798C>A c.5363C>A (p.Ser1788Tyr) c.5318C>A (p.Ser1773Tyr) c.1484C>A n.719C>A n.790C>A c.5390C>A (p.Ser1797Tyr) n.117C>A c.4442C>A (p.Ser1481Tyr) c.5618C>A (p.Ser1873Tyr) c.5507C>A (p.Ser1836Tyr) c.5429C>A (p.Ser1810Tyr) c.5081C>A (p.Ser1694Tyr) c.4706C>A (p.Ser1569Tyr) c.5513C>A (p.Ser1838Tyr) c.5615C>A (p.Ser1872Tyr) c.5558C>A (p.Ser1853Tyr) c.5534C>A (p.Ser1845Tyr) c.5489C>A (p.Ser1830Tyr) | |
3 | g.53801380C>G | CA353251686 | CACNA1D | c.5423C>G (p.Ser1808Cys) n.2362C>G n.798C>G c.5363C>G (p.Ser1788Cys) c.5318C>G (p.Ser1773Cys) c.1484C>G n.719C>G n.790C>G c.5390C>G (p.Ser1797Cys) n.117C>G c.4442C>G (p.Ser1481Cys) c.5618C>G (p.Ser1873Cys) c.5507C>G (p.Ser1836Cys) c.5429C>G (p.Ser1810Cys) c.5081C>G (p.Ser1694Cys) c.4706C>G (p.Ser1569Cys) c.5513C>G (p.Ser1838Cys) c.5615C>G (p.Ser1872Cys) c.5558C>G (p.Ser1853Cys) c.5534C>G (p.Ser1845Cys) c.5489C>G (p.Ser1830Cys) | |
3 | g.53801380C>T | CA353251687 | CACNA1D | c.5423C>T (p.Ser1808Phe) n.2362C>T n.798C>T c.5363C>T (p.Ser1788Phe) c.5318C>T (p.Ser1773Phe) c.1484C>T n.719C>T n.790C>T c.5390C>T (p.Ser1797Phe) n.117C>T c.4442C>T (p.Ser1481Phe) c.5618C>T (p.Ser1873Phe) c.5507C>T (p.Ser1836Phe) c.5429C>T (p.Ser1810Phe) c.5081C>T (p.Ser1694Phe) c.4706C>T (p.Ser1569Phe) c.5513C>T (p.Ser1838Phe) c.5615C>T (p.Ser1872Phe) c.5558C>T (p.Ser1853Phe) c.5534C>T (p.Ser1845Phe) c.5489C>T (p.Ser1830Phe) | COSMIC COSMIC |
3 | g.53801381C>A | CA433804119 | CACNA1D | c.5424C>A (p.Ser1808=) n.2363C>A n.799C>A c.5364C>A (p.Ser1788=) c.5319C>A (p.Ser1773=) c.1485C>A n.720C>A n.791C>A c.5391C>A (p.Ser1797=) n.118C>A c.4443C>A (p.Ser1481=) c.5619C>A (p.Ser1873=) c.5508C>A (p.Ser1836=) c.5430C>A (p.Ser1810=) c.5082C>A (p.Ser1694=) c.4707C>A (p.Ser1569=) c.5514C>A (p.Ser1838=) c.5616C>A (p.Ser1872=) c.5559C>A (p.Ser1853=) c.5535C>A (p.Ser1845=) c.5490C>A (p.Ser1830=) | |
3 | g.53801381C>G | CA433804118 | CACNA1D | c.5424C>G (p.Ser1808=) n.2363C>G n.799C>G c.5364C>G (p.Ser1788=) c.5319C>G (p.Ser1773=) c.1485C>G n.720C>G n.791C>G c.5391C>G (p.Ser1797=) n.118C>G c.4443C>G (p.Ser1481=) c.5619C>G (p.Ser1873=) c.5508C>G (p.Ser1836=) c.5430C>G (p.Ser1810=) c.5082C>G (p.Ser1694=) c.4707C>G (p.Ser1569=) c.5514C>G (p.Ser1838=) c.5616C>G (p.Ser1872=) c.5559C>G (p.Ser1853=) c.5535C>G (p.Ser1845=) c.5490C>G (p.Ser1830=) | |
3 | g.53801381C>T | CA433804117 | CACNA1D | c.5424C>T (p.Ser1808=) n.2363C>T n.799C>T c.5364C>T (p.Ser1788=) c.5319C>T (p.Ser1773=) c.1485C>T n.720C>T n.791C>T c.5391C>T (p.Ser1797=) n.118C>T c.4443C>T (p.Ser1481=) c.5619C>T (p.Ser1873=) c.5508C>T (p.Ser1836=) c.5430C>T (p.Ser1810=) c.5082C>T (p.Ser1694=) c.4707C>T (p.Ser1569=) c.5514C>T (p.Ser1838=) c.5616C>T (p.Ser1872=) c.5559C>T (p.Ser1853=) c.5535C>T (p.Ser1845=) c.5490C>T (p.Ser1830=) | gnomAD v4 |
3 | g.53801382C>A | CA353251689 | CACNA1D | c.5425C>A (p.His1809Asn) n.2364C>A n.800C>A c.5365C>A (p.His1789Asn) c.5320C>A (p.His1774Asn) c.1486C>A n.721C>A n.792C>A c.5392C>A (p.His1798Asn) n.119C>A c.4444C>A (p.His1482Asn) c.5620C>A (p.His1874Asn) c.5509C>A (p.His1837Asn) c.5431C>A (p.His1811Asn) c.5083C>A (p.His1695Asn) c.4708C>A (p.His1570Asn) c.5515C>A (p.His1839Asn) c.5617C>A (p.His1873Asn) c.5560C>A (p.His1854Asn) c.5536C>A (p.His1846Asn) c.5491C>A (p.His1831Asn) | |
3 | g.53801382C>G | CA353251691 | CACNA1D | c.5425C>G (p.His1809Asp) n.2364C>G n.800C>G c.5365C>G (p.His1789Asp) c.5320C>G (p.His1774Asp) c.1486C>G n.721C>G n.792C>G c.5392C>G (p.His1798Asp) n.119C>G c.4444C>G (p.His1482Asp) c.5620C>G (p.His1874Asp) c.5509C>G (p.His1837Asp) c.5431C>G (p.His1811Asp) c.5083C>G (p.His1695Asp) c.4708C>G (p.His1570Asp) c.5515C>G (p.His1839Asp) c.5617C>G (p.His1873Asp) c.5560C>G (p.His1854Asp) c.5536C>G (p.His1846Asp) c.5491C>G (p.His1831Asp) | |
3 | g.53801382C>T | CA353251692 | CACNA1D | c.5425C>T (p.His1809Tyr) n.2364C>T n.800C>T c.5365C>T (p.His1789Tyr) c.5320C>T (p.His1774Tyr) c.1486C>T n.721C>T n.792C>T c.5392C>T (p.His1798Tyr) n.119C>T c.4444C>T (p.His1482Tyr) c.5620C>T (p.His1874Tyr) c.5509C>T (p.His1837Tyr) c.5431C>T (p.His1811Tyr) c.5083C>T (p.His1695Tyr) c.4708C>T (p.His1570Tyr) c.5515C>T (p.His1839Tyr) c.5617C>T (p.His1873Tyr) c.5560C>T (p.His1854Tyr) c.5536C>T (p.His1846Tyr) c.5491C>T (p.His1831Tyr) | |
3 | g.53801383A>C | CA353251694 | CACNA1D | c.5426A>C (p.His1809Pro) n.2365A>C n.801A>C c.5366A>C (p.His1789Pro) c.5321A>C (p.His1774Pro) c.1487A>C n.722A>C n.793A>C c.5393A>C (p.His1798Pro) n.120A>C c.4445A>C (p.His1482Pro) c.5621A>C (p.His1874Pro) c.5510A>C (p.His1837Pro) c.5432A>C (p.His1811Pro) c.5084A>C (p.His1695Pro) c.4709A>C (p.His1570Pro) c.5516A>C (p.His1839Pro) c.5618A>C (p.His1873Pro) c.5561A>C (p.His1854Pro) c.5537A>C (p.His1846Pro) c.5492A>C (p.His1831Pro) | |
3 | g.53801383A>G | CA353251696 | CACNA1D | c.5426A>G (p.His1809Arg) n.2365A>G n.801A>G c.5366A>G (p.His1789Arg) c.5321A>G (p.His1774Arg) c.1487A>G n.722A>G n.793A>G c.5393A>G (p.His1798Arg) n.120A>G c.4445A>G (p.His1482Arg) c.5621A>G (p.His1874Arg) c.5510A>G (p.His1837Arg) c.5432A>G (p.His1811Arg) c.5084A>G (p.His1695Arg) c.4709A>G (p.His1570Arg) c.5516A>G (p.His1839Arg) c.5618A>G (p.His1873Arg) c.5561A>G (p.His1854Arg) c.5537A>G (p.His1846Arg) c.5492A>G (p.His1831Arg) | |
3 | g.53801383A>T | CA353251698 | CACNA1D | c.5426A>T (p.His1809Leu) n.2365A>T n.801A>T c.5366A>T (p.His1789Leu) c.5321A>T (p.His1774Leu) c.1487A>T n.722A>T n.793A>T c.5393A>T (p.His1798Leu) n.120A>T c.4445A>T (p.His1482Leu) c.5621A>T (p.His1874Leu) c.5510A>T (p.His1837Leu) c.5432A>T (p.His1811Leu) c.5084A>T (p.His1695Leu) c.4709A>T (p.His1570Leu) c.5516A>T (p.His1839Leu) c.5618A>T (p.His1873Leu) c.5561A>T (p.His1854Leu) c.5537A>T (p.His1846Leu) c.5492A>T (p.His1831Leu) | |
3 | g.53801384C>A | CA353251700 | CACNA1D | c.5427C>A (p.His1809Gln) n.2366C>A n.802C>A c.5367C>A (p.His1789Gln) c.5322C>A (p.His1774Gln) c.1488C>A n.723C>A n.794C>A c.5394C>A (p.His1798Gln) n.121C>A c.4446C>A (p.His1482Gln) c.5622C>A (p.His1874Gln) c.5511C>A (p.His1837Gln) c.5433C>A (p.His1811Gln) c.5085C>A (p.His1695Gln) c.4710C>A (p.His1570Gln) c.5517C>A (p.His1839Gln) c.5619C>A (p.His1873Gln) c.5562C>A (p.His1854Gln) c.5538C>A (p.His1846Gln) c.5493C>A (p.His1831Gln) | gnomAD v4 |
3 | g.53801384C>G | CA353251702 | CACNA1D | c.5427C>G (p.His1809Gln) n.2366C>G n.802C>G c.5367C>G (p.His1789Gln) c.5322C>G (p.His1774Gln) c.1488C>G n.723C>G n.794C>G c.5394C>G (p.His1798Gln) n.121C>G c.4446C>G (p.His1482Gln) c.5622C>G (p.His1874Gln) c.5511C>G (p.His1837Gln) c.5433C>G (p.His1811Gln) c.5085C>G (p.His1695Gln) c.4710C>G (p.His1570Gln) c.5517C>G (p.His1839Gln) c.5619C>G (p.His1873Gln) c.5562C>G (p.His1854Gln) c.5538C>G (p.His1846Gln) c.5493C>G (p.His1831Gln) | ClinVar |
3 | g.53801384C>T | CA433804121 | CACNA1D | c.5427C>T (p.His1809=) n.2366C>T n.802C>T c.5367C>T (p.His1789=) c.5322C>T (p.His1774=) c.1488C>T n.723C>T n.794C>T c.5394C>T (p.His1798=) n.121C>T c.4446C>T (p.His1482=) c.5622C>T (p.His1874=) c.5511C>T (p.His1837=) c.5433C>T (p.His1811=) c.5085C>T (p.His1695=) c.4710C>T (p.His1570=) c.5517C>T (p.His1839=) c.5619C>T (p.His1873=) c.5562C>T (p.His1854=) c.5538C>T (p.His1846=) c.5493C>T (p.His1831=) | |
3 | g.53801385A>C | CA353251705 | CACNA1D | c.5428A>C (p.Lys1810Gln) n.2367A>C n.803A>C c.5368A>C (p.Lys1790Gln) c.5323A>C (p.Lys1775Gln) c.1489A>C n.724A>C n.795A>C c.5395A>C (p.Lys1799Gln) n.122A>C c.4447A>C (p.Lys1483Gln) c.5623A>C (p.Lys1875Gln) c.5512A>C (p.Lys1838Gln) c.5434A>C (p.Lys1812Gln) c.5086A>C (p.Lys1696Gln) c.4711A>C (p.Lys1571Gln) c.5518A>C (p.Lys1840Gln) c.5620A>C (p.Lys1874Gln) c.5563A>C (p.Lys1855Gln) c.5539A>C (p.Lys1847Gln) c.5494A>C (p.Lys1832Gln) | |
3 | g.53801385A>G | CA353251708 | CACNA1D | c.5428A>G (p.Lys1810Glu) n.2367A>G n.803A>G c.5368A>G (p.Lys1790Glu) c.5323A>G (p.Lys1775Glu) c.1489A>G n.724A>G n.795A>G c.5395A>G (p.Lys1799Glu) n.122A>G c.4447A>G (p.Lys1483Glu) c.5623A>G (p.Lys1875Glu) c.5512A>G (p.Lys1838Glu) c.5434A>G (p.Lys1812Glu) c.5086A>G (p.Lys1696Glu) c.4711A>G (p.Lys1571Glu) c.5518A>G (p.Lys1840Glu) c.5620A>G (p.Lys1874Glu) c.5563A>G (p.Lys1855Glu) c.5539A>G (p.Lys1847Glu) c.5494A>G (p.Lys1832Glu) | |
3 | g.53801385A>T | CA353251707 | CACNA1D | c.5428A>T (p.Lys1810Ter) n.2367A>T n.803A>T c.5368A>T (p.Lys1790Ter) c.5323A>T (p.Lys1775Ter) c.1489A>T n.724A>T n.795A>T c.5395A>T (p.Lys1799Ter) n.122A>T c.4447A>T (p.Lys1483Ter) c.5623A>T (p.Lys1875Ter) c.5512A>T (p.Lys1838Ter) c.5434A>T (p.Lys1812Ter) c.5086A>T (p.Lys1696Ter) c.4711A>T (p.Lys1571Ter) c.5518A>T (p.Lys1840Ter) c.5620A>T (p.Lys1874Ter) c.5563A>T (p.Lys1855Ter) c.5539A>T (p.Lys1847Ter) c.5494A>T (p.Lys1832Ter) | |
3 | g.53801386A>C | CA353251710 | CACNA1D | c.5429A>C (p.Lys1810Thr) n.2368A>C n.804A>C c.5369A>C (p.Lys1790Thr) c.5324A>C (p.Lys1775Thr) c.1490A>C n.725A>C n.796A>C c.5396A>C (p.Lys1799Thr) n.123A>C c.4448A>C (p.Lys1483Thr) c.5624A>C (p.Lys1875Thr) c.5513A>C (p.Lys1838Thr) c.5435A>C (p.Lys1812Thr) c.5087A>C (p.Lys1696Thr) c.4712A>C (p.Lys1571Thr) c.5519A>C (p.Lys1840Thr) c.5621A>C (p.Lys1874Thr) c.5564A>C (p.Lys1855Thr) c.5540A>C (p.Lys1847Thr) c.5495A>C (p.Lys1832Thr) | |
3 | g.53801386A>G | CA353251713 | CACNA1D | c.5429A>G (p.Lys1810Arg) n.2368A>G n.804A>G c.5369A>G (p.Lys1790Arg) c.5324A>G (p.Lys1775Arg) c.1490A>G n.725A>G n.796A>G c.5396A>G (p.Lys1799Arg) n.123A>G c.4448A>G (p.Lys1483Arg) c.5624A>G (p.Lys1875Arg) c.5513A>G (p.Lys1838Arg) c.5435A>G (p.Lys1812Arg) c.5087A>G (p.Lys1696Arg) c.4712A>G (p.Lys1571Arg) c.5519A>G (p.Lys1840Arg) c.5621A>G (p.Lys1874Arg) c.5564A>G (p.Lys1855Arg) c.5540A>G (p.Lys1847Arg) c.5495A>G (p.Lys1832Arg) | |
3 | g.53801386A>T | CA353251711 | CACNA1D | c.5429A>T (p.Lys1810Met) n.2368A>T n.804A>T c.5369A>T (p.Lys1790Met) c.5324A>T (p.Lys1775Met) c.1490A>T n.725A>T n.796A>T c.5396A>T (p.Lys1799Met) n.123A>T c.4448A>T (p.Lys1483Met) c.5624A>T (p.Lys1875Met) c.5513A>T (p.Lys1838Met) c.5435A>T (p.Lys1812Met) c.5087A>T (p.Lys1696Met) c.4712A>T (p.Lys1571Met) c.5519A>T (p.Lys1840Met) c.5621A>T (p.Lys1874Met) c.5564A>T (p.Lys1855Met) c.5540A>T (p.Lys1847Met) c.5495A>T (p.Lys1832Met) | |
3 | g.53801387G>A | CA433804122 | CACNA1D | c.5430G>A (p.Lys1810=) n.2369G>A n.805G>A c.5370G>A (p.Lys1790=) c.5325G>A (p.Lys1775=) c.1491G>A n.726G>A n.797G>A c.5397G>A (p.Lys1799=) n.124G>A c.4449G>A (p.Lys1483=) c.5625G>A (p.Lys1875=) c.5514G>A (p.Lys1838=) c.5436G>A (p.Lys1812=) c.5088G>A (p.Lys1696=) c.4713G>A (p.Lys1571=) c.5520G>A (p.Lys1840=) c.5622G>A (p.Lys1874=) c.5565G>A (p.Lys1855=) c.5541G>A (p.Lys1847=) c.5496G>A (p.Lys1832=) | |
3 | g.53801387G>C | CA353251715 | CACNA1D | c.5430G>C (p.Lys1810Asn) n.2369G>C n.805G>C c.5370G>C (p.Lys1790Asn) c.5325G>C (p.Lys1775Asn) c.1491G>C n.726G>C n.797G>C c.5397G>C (p.Lys1799Asn) n.124G>C c.4449G>C (p.Lys1483Asn) c.5625G>C (p.Lys1875Asn) c.5514G>C (p.Lys1838Asn) c.5436G>C (p.Lys1812Asn) c.5088G>C (p.Lys1696Asn) c.4713G>C (p.Lys1571Asn) c.5520G>C (p.Lys1840Asn) c.5622G>C (p.Lys1874Asn) c.5565G>C (p.Lys1855Asn) c.5541G>C (p.Lys1847Asn) c.5496G>C (p.Lys1832Asn) | |
3 | g.53801387G>T | CA353251717 | CACNA1D | c.5430G>T (p.Lys1810Asn) n.2369G>T n.805G>T c.5370G>T (p.Lys1790Asn) c.5325G>T (p.Lys1775Asn) c.1491G>T n.726G>T n.797G>T c.5397G>T (p.Lys1799Asn) n.124G>T c.4449G>T (p.Lys1483Asn) c.5625G>T (p.Lys1875Asn) c.5514G>T (p.Lys1838Asn) c.5436G>T (p.Lys1812Asn) c.5088G>T (p.Lys1696Asn) c.4713G>T (p.Lys1571Asn) c.5520G>T (p.Lys1840Asn) c.5622G>T (p.Lys1874Asn) c.5565G>T (p.Lys1855Asn) c.5541G>T (p.Lys1847Asn) c.5496G>T (p.Lys1832Asn) | |
3 | g.53801388C>A | CA353251720 | CACNA1D | c.5431C>A (p.His1811Asn) n.2370C>A n.806C>A c.5371C>A (p.His1791Asn) c.5326C>A (p.His1776Asn) c.1492C>A n.727C>A n.798C>A c.5398C>A (p.His1800Asn) n.125C>A c.4450C>A (p.His1484Asn) c.5626C>A (p.His1876Asn) c.5515C>A (p.His1839Asn) c.5437C>A (p.His1813Asn) c.5089C>A (p.His1697Asn) c.4714C>A (p.His1572Asn) c.5521C>A (p.His1841Asn) c.5623C>A (p.His1875Asn) c.5566C>A (p.His1856Asn) c.5542C>A (p.His1848Asn) c.5497C>A (p.His1833Asn) | |
3 | g.53801388C>G | CA353251722 | CACNA1D | c.5431C>G (p.His1811Asp) n.2370C>G n.806C>G c.5371C>G (p.His1791Asp) c.5326C>G (p.His1776Asp) c.1492C>G n.727C>G n.798C>G c.5398C>G (p.His1800Asp) n.125C>G c.4450C>G (p.His1484Asp) c.5626C>G (p.His1876Asp) c.5515C>G (p.His1839Asp) c.5437C>G (p.His1813Asp) c.5089C>G (p.His1697Asp) c.4714C>G (p.His1572Asp) c.5521C>G (p.His1841Asp) c.5623C>G (p.His1875Asp) c.5566C>G (p.His1856Asp) c.5542C>G (p.His1848Asp) c.5497C>G (p.His1833Asp) | |
3 | g.53801388C>T | CA353251723 | CACNA1D | c.5431C>T (p.His1811Tyr) n.2370C>T n.806C>T c.5371C>T (p.His1791Tyr) c.5326C>T (p.His1776Tyr) c.1492C>T n.727C>T n.798C>T c.5398C>T (p.His1800Tyr) n.125C>T c.4450C>T (p.His1484Tyr) c.5626C>T (p.His1876Tyr) c.5515C>T (p.His1839Tyr) c.5437C>T (p.His1813Tyr) c.5089C>T (p.His1697Tyr) c.4714C>T (p.His1572Tyr) c.5521C>T (p.His1841Tyr) c.5623C>T (p.His1875Tyr) c.5566C>T (p.His1856Tyr) c.5542C>T (p.His1848Tyr) c.5497C>T (p.His1833Tyr) | gnomAD v4 COSMIC COSMIC |
3 | g.53801389A>C | CA353251725 | CACNA1D | c.5432A>C (p.His1811Pro) n.2371A>C n.807A>C c.5372A>C (p.His1791Pro) c.5327A>C (p.His1776Pro) c.1493A>C n.728A>C n.799A>C c.5399A>C (p.His1800Pro) n.126A>C c.4451A>C (p.His1484Pro) c.5627A>C (p.His1876Pro) c.5516A>C (p.His1839Pro) c.5438A>C (p.His1813Pro) c.5090A>C (p.His1697Pro) c.4715A>C (p.His1572Pro) c.5522A>C (p.His1841Pro) c.5624A>C (p.His1875Pro) c.5567A>C (p.His1856Pro) c.5543A>C (p.His1848Pro) c.5498A>C (p.His1833Pro) | |
3 | g.53801389A>G | CA353251726 | CACNA1D | c.5432A>G (p.His1811Arg) n.2371A>G n.807A>G c.5372A>G (p.His1791Arg) c.5327A>G (p.His1776Arg) c.1493A>G n.728A>G n.799A>G c.5399A>G (p.His1800Arg) n.126A>G c.4451A>G (p.His1484Arg) c.5627A>G (p.His1876Arg) c.5516A>G (p.His1839Arg) c.5438A>G (p.His1813Arg) c.5090A>G (p.His1697Arg) c.4715A>G (p.His1572Arg) c.5522A>G (p.His1841Arg) c.5624A>G (p.His1875Arg) c.5567A>G (p.His1856Arg) c.5543A>G (p.His1848Arg) c.5498A>G (p.His1833Arg) | |
3 | g.53801389A>T | CA353251728 | CACNA1D | c.5432A>T (p.His1811Leu) n.2371A>T n.807A>T c.5372A>T (p.His1791Leu) c.5327A>T (p.His1776Leu) c.1493A>T n.728A>T n.799A>T c.5399A>T (p.His1800Leu) n.126A>T c.4451A>T (p.His1484Leu) c.5627A>T (p.His1876Leu) c.5516A>T (p.His1839Leu) c.5438A>T (p.His1813Leu) c.5090A>T (p.His1697Leu) c.4715A>T (p.His1572Leu) c.5522A>T (p.His1841Leu) c.5624A>T (p.His1875Leu) c.5567A>T (p.His1856Leu) c.5543A>T (p.His1848Leu) c.5498A>T (p.His1833Leu) | |
3 | g.53801390T>A | CA353251730 | CACNA1D | c.5433T>A (p.His1811Gln) n.2372T>A n.808T>A c.5373T>A (p.His1791Gln) c.5328T>A (p.His1776Gln) c.1494T>A n.729T>A n.800T>A c.5400T>A (p.His1800Gln) n.127T>A c.4452T>A (p.His1484Gln) c.5628T>A (p.His1876Gln) c.5517T>A (p.His1839Gln) c.5439T>A (p.His1813Gln) c.5091T>A (p.His1697Gln) c.4716T>A (p.His1572Gln) c.5523T>A (p.His1841Gln) c.5625T>A (p.His1875Gln) c.5568T>A (p.His1856Gln) c.5544T>A (p.His1848Gln) c.5499T>A (p.His1833Gln) | |
3 | g.53801390T>C | CA433804125 | CACNA1D | c.5433T>C (p.His1811=) n.2372T>C n.808T>C c.5373T>C (p.His1791=) c.5328T>C (p.His1776=) c.1494T>C n.729T>C n.800T>C c.5400T>C (p.His1800=) n.127T>C c.4452T>C (p.His1484=) c.5628T>C (p.His1876=) c.5517T>C (p.His1839=) c.5439T>C (p.His1813=) c.5091T>C (p.His1697=) c.4716T>C (p.His1572=) c.5523T>C (p.His1841=) c.5625T>C (p.His1875=) c.5568T>C (p.His1856=) c.5544T>C (p.His1848=) c.5499T>C (p.His1833=) | dbSNP gnomAD v4 |
3 | g.53801390T>G | CA353251732 | CACNA1D | c.5433T>G (p.His1811Gln) n.2372T>G n.808T>G c.5373T>G (p.His1791Gln) c.5328T>G (p.His1776Gln) c.1494T>G n.729T>G n.800T>G c.5400T>G (p.His1800Gln) n.127T>G c.4452T>G (p.His1484Gln) c.5628T>G (p.His1876Gln) c.5517T>G (p.His1839Gln) c.5439T>G (p.His1813Gln) c.5091T>G (p.His1697Gln) c.4716T>G (p.His1572Gln) c.5523T>G (p.His1841Gln) c.5625T>G (p.His1875Gln) c.5568T>G (p.His1856Gln) c.5544T>G (p.His1848Gln) c.5499T>G (p.His1833Gln) | |
3 | g.53801390T= | CA1365484227 | CACNA1D | c.5433T= (p.His1811=) n.2372T= n.808T= c.5373T= (p.His1791=) c.5328T= (p.His1776=) c.1494T= n.729T= n.800T= c.5400T= (p.His1800=) n.127T= c.4452T= (p.His1484=) c.5628T= (p.His1876=) c.5517T= (p.His1839=) c.5439T= (p.His1813=) c.5091T= (p.His1697=) c.4716T= (p.His1572=) c.5523T= (p.His1841=) c.5625T= (p.His1875=) c.5568T= (p.His1856=) c.5544T= (p.His1848=) c.5499T= (p.His1833=) | |
3 | g.53801391G>A | CA353251734 | CACNA1D | c.5434G>A (p.Asp1812Asn) n.2373G>A n.809G>A c.5374G>A (p.Asp1792Asn) c.5329G>A (p.Asp1777Asn) c.1495G>A n.730G>A n.801G>A c.5401G>A (p.Asp1801Asn) n.128G>A c.4453G>A (p.Asp1485Asn) c.5629G>A (p.Asp1877Asn) c.5518G>A (p.Asp1840Asn) c.5440G>A (p.Asp1814Asn) c.5092G>A (p.Asp1698Asn) c.4717G>A (p.Asp1573Asn) c.5524G>A (p.Asp1842Asn) c.5626G>A (p.Asp1876Asn) c.5569G>A (p.Asp1857Asn) c.5545G>A (p.Asp1849Asn) c.5500G>A (p.Asp1834Asn) | gnomAD v4 |
3 | g.53801391G>C | CA353251737 | CACNA1D | c.5434G>C (p.Asp1812His) n.2373G>C n.809G>C c.5374G>C (p.Asp1792His) c.5329G>C (p.Asp1777His) c.1495G>C n.730G>C n.801G>C c.5401G>C (p.Asp1801His) n.128G>C c.4453G>C (p.Asp1485His) c.5629G>C (p.Asp1877His) c.5518G>C (p.Asp1840His) c.5440G>C (p.Asp1814His) c.5092G>C (p.Asp1698His) c.4717G>C (p.Asp1573His) c.5524G>C (p.Asp1842His) c.5626G>C (p.Asp1876His) c.5569G>C (p.Asp1857His) c.5545G>C (p.Asp1849His) c.5500G>C (p.Asp1834His) | |
3 | g.53801391G>T | CA353251739 | CACNA1D | c.5434G>T (p.Asp1812Tyr) n.2373G>T n.809G>T c.5374G>T (p.Asp1792Tyr) c.5329G>T (p.Asp1777Tyr) c.1495G>T n.730G>T n.801G>T c.5401G>T (p.Asp1801Tyr) n.128G>T c.4453G>T (p.Asp1485Tyr) c.5629G>T (p.Asp1877Tyr) c.5518G>T (p.Asp1840Tyr) c.5440G>T (p.Asp1814Tyr) c.5092G>T (p.Asp1698Tyr) c.4717G>T (p.Asp1573Tyr) c.5524G>T (p.Asp1842Tyr) c.5626G>T (p.Asp1876Tyr) c.5569G>T (p.Asp1857Tyr) c.5545G>T (p.Asp1849Tyr) c.5500G>T (p.Asp1834Tyr) | gnomAD v4 |
3 | g.53801392A>C | CA353251745 | CACNA1D | c.5435A>C (p.Asp1812Ala) n.2374A>C n.810A>C c.5375A>C (p.Asp1792Ala) c.5330A>C (p.Asp1777Ala) c.1496A>C n.731A>C n.802A>C c.5402A>C (p.Asp1801Ala) n.129A>C c.4454A>C (p.Asp1485Ala) c.5630A>C (p.Asp1877Ala) c.5519A>C (p.Asp1840Ala) c.5441A>C (p.Asp1814Ala) c.5093A>C (p.Asp1698Ala) c.4718A>C (p.Asp1573Ala) c.5525A>C (p.Asp1842Ala) c.5627A>C (p.Asp1876Ala) c.5570A>C (p.Asp1857Ala) c.5546A>C (p.Asp1849Ala) c.5501A>C (p.Asp1834Ala) | |
3 | g.53801392A>G | CA353251742 | CACNA1D | c.5435A>G (p.Asp1812Gly) n.2374A>G n.810A>G c.5375A>G (p.Asp1792Gly) c.5330A>G (p.Asp1777Gly) c.1496A>G n.731A>G n.802A>G c.5402A>G (p.Asp1801Gly) n.129A>G c.4454A>G (p.Asp1485Gly) c.5630A>G (p.Asp1877Gly) c.5519A>G (p.Asp1840Gly) c.5441A>G (p.Asp1814Gly) c.5093A>G (p.Asp1698Gly) c.4718A>G (p.Asp1573Gly) c.5525A>G (p.Asp1842Gly) c.5627A>G (p.Asp1876Gly) c.5570A>G (p.Asp1857Gly) c.5546A>G (p.Asp1849Gly) c.5501A>G (p.Asp1834Gly) | |
3 | g.53801392A>T | CA353251743 | CACNA1D | c.5435A>T (p.Asp1812Val) n.2374A>T n.810A>T c.5375A>T (p.Asp1792Val) c.5330A>T (p.Asp1777Val) c.1496A>T n.731A>T n.802A>T c.5402A>T (p.Asp1801Val) n.129A>T c.4454A>T (p.Asp1485Val) c.5630A>T (p.Asp1877Val) c.5519A>T (p.Asp1840Val) c.5441A>T (p.Asp1814Val) c.5093A>T (p.Asp1698Val) c.4718A>T (p.Asp1573Val) c.5525A>T (p.Asp1842Val) c.5627A>T (p.Asp1876Val) c.5570A>T (p.Asp1857Val) c.5546A>T (p.Asp1849Val) c.5501A>T (p.Asp1834Val) | |
3 | g.53801393C>A | CA353251747 | CACNA1D | c.5436C>A (p.Asp1812Glu) n.2375C>A n.811C>A c.5376C>A (p.Asp1792Glu) c.5331C>A (p.Asp1777Glu) c.1497C>A n.732C>A n.803C>A c.5403C>A (p.Asp1801Glu) n.130C>A c.4455C>A (p.Asp1485Glu) c.5631C>A (p.Asp1877Glu) c.5520C>A (p.Asp1840Glu) c.5442C>A (p.Asp1814Glu) c.5094C>A (p.Asp1698Glu) c.4719C>A (p.Asp1573Glu) c.5526C>A (p.Asp1842Glu) c.5628C>A (p.Asp1876Glu) c.5571C>A (p.Asp1857Glu) c.5547C>A (p.Asp1849Glu) c.5502C>A (p.Asp1834Glu) | |
3 | g.53801393C>G | CA353251749 | CACNA1D | c.5436C>G (p.Asp1812Glu) n.2375C>G n.811C>G c.5376C>G (p.Asp1792Glu) c.5331C>G (p.Asp1777Glu) c.1497C>G n.732C>G n.803C>G c.5403C>G (p.Asp1801Glu) n.130C>G c.4455C>G (p.Asp1485Glu) c.5631C>G (p.Asp1877Glu) c.5520C>G (p.Asp1840Glu) c.5442C>G (p.Asp1814Glu) c.5094C>G (p.Asp1698Glu) c.4719C>G (p.Asp1573Glu) c.5526C>G (p.Asp1842Glu) c.5628C>G (p.Asp1876Glu) c.5571C>G (p.Asp1857Glu) c.5547C>G (p.Asp1849Glu) c.5502C>G (p.Asp1834Glu) | |
3 | g.53801393C>T | CA433804129 | CACNA1D | c.5436C>T (p.Asp1812=) n.2375C>T n.811C>T c.5376C>T (p.Asp1792=) c.5331C>T (p.Asp1777=) c.1497C>T n.732C>T n.803C>T c.5403C>T (p.Asp1801=) n.130C>T c.4455C>T (p.Asp1485=) c.5631C>T (p.Asp1877=) c.5520C>T (p.Asp1840=) c.5442C>T (p.Asp1814=) c.5094C>T (p.Asp1698=) c.4719C>T (p.Asp1573=) c.5526C>T (p.Asp1842=) c.5628C>T (p.Asp1876=) c.5571C>T (p.Asp1857=) c.5547C>T (p.Asp1849=) c.5502C>T (p.Asp1834=) | |
3 | g.53801394C>A | CA433804130 | CACNA1D | c.5437C>A (p.Arg1813=) n.2376C>A n.812C>A c.5377C>A (p.Arg1793=) c.5332C>A (p.Arg1778=) c.1498C>A n.733C>A n.804C>A c.5404C>A (p.Arg1802=) n.131C>A c.4456C>A (p.Arg1486=) c.5632C>A (p.Arg1878=) c.5521C>A (p.Arg1841=) c.5443C>A (p.Arg1815=) c.5095C>A (p.Arg1699=) c.4720C>A (p.Arg1574=) c.5527C>A (p.Arg1843=) c.5629C>A (p.Arg1877=) c.5572C>A (p.Arg1858=) c.5548C>A (p.Arg1850=) c.5503C>A (p.Arg1835=) | |
3 | g.53801394C= | CA1365484228 | CACNA1D | c.5437C= (p.Arg1813=) n.2376C= n.812C= c.5377C= (p.Arg1793=) c.5332C= (p.Arg1778=) c.1498C= n.733C= n.804C= c.5404C= (p.Arg1802=) n.131C= c.4456C= (p.Arg1486=) c.5632C= (p.Arg1878=) c.5521C= (p.Arg1841=) c.5443C= (p.Arg1815=) c.5095C= (p.Arg1699=) c.4720C= (p.Arg1574=) c.5527C= (p.Arg1843=) c.5629C= (p.Arg1877=) c.5572C= (p.Arg1858=) c.5548C= (p.Arg1850=) c.5503C= (p.Arg1835=) | |
3 | g.53801394C>G | CA353251751 | CACNA1D | c.5437C>G (p.Arg1813Gly) n.2376C>G n.812C>G c.5377C>G (p.Arg1793Gly) c.5332C>G (p.Arg1778Gly) c.1498C>G n.733C>G n.804C>G c.5404C>G (p.Arg1802Gly) n.131C>G c.4456C>G (p.Arg1486Gly) c.5632C>G (p.Arg1878Gly) c.5521C>G (p.Arg1841Gly) c.5443C>G (p.Arg1815Gly) c.5095C>G (p.Arg1699Gly) c.4720C>G (p.Arg1574Gly) c.5527C>G (p.Arg1843Gly) c.5629C>G (p.Arg1877Gly) c.5572C>G (p.Arg1858Gly) c.5548C>G (p.Arg1850Gly) c.5503C>G (p.Arg1835Gly) | |
3 | g.53801394C>T | CA2455109 | CACNA1D | c.5437C>T (p.Arg1813Trp) n.2376C>T n.812C>T c.5377C>T (p.Arg1793Trp) c.5332C>T (p.Arg1778Trp) c.1498C>T n.733C>T n.804C>T c.5404C>T (p.Arg1802Trp) n.131C>T c.4456C>T (p.Arg1486Trp) c.5632C>T (p.Arg1878Trp) c.5521C>T (p.Arg1841Trp) c.5443C>T (p.Arg1815Trp) c.5095C>T (p.Arg1699Trp) c.4720C>T (p.Arg1574Trp) c.5527C>T (p.Arg1843Trp) c.5629C>T (p.Arg1877Trp) c.5572C>T (p.Arg1858Trp) c.5548C>T (p.Arg1850Trp) c.5503C>T (p.Arg1835Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.53801395G>A | CA2455110 | CACNA1D | c.5438G>A (p.Arg1813Gln) n.2377G>A n.813G>A c.5378G>A (p.Arg1793Gln) c.5333G>A (p.Arg1778Gln) c.1499G>A n.734G>A n.805G>A c.5405G>A (p.Arg1802Gln) n.132G>A c.4457G>A (p.Arg1486Gln) c.5633G>A (p.Arg1878Gln) c.5522G>A (p.Arg1841Gln) c.5444G>A (p.Arg1815Gln) c.5096G>A (p.Arg1699Gln) c.4721G>A (p.Arg1574Gln) c.5528G>A (p.Arg1843Gln) c.5630G>A (p.Arg1877Gln) c.5573G>A (p.Arg1858Gln) c.5549G>A (p.Arg1850Gln) c.5504G>A (p.Arg1835Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.53801395G>C | CA353251756 | CACNA1D | c.5438G>C (p.Arg1813Pro) n.2377G>C n.813G>C c.5378G>C (p.Arg1793Pro) c.5333G>C (p.Arg1778Pro) c.1499G>C n.734G>C n.805G>C c.5405G>C (p.Arg1802Pro) n.132G>C c.4457G>C (p.Arg1486Pro) c.5633G>C (p.Arg1878Pro) c.5522G>C (p.Arg1841Pro) c.5444G>C (p.Arg1815Pro) c.5096G>C (p.Arg1699Pro) c.4721G>C (p.Arg1574Pro) c.5528G>C (p.Arg1843Pro) c.5630G>C (p.Arg1877Pro) c.5573G>C (p.Arg1858Pro) c.5549G>C (p.Arg1850Pro) c.5504G>C (p.Arg1835Pro) | |
3 | g.53801395G= | CA1365484229 | CACNA1D | c.5438G= (p.Arg1813=) n.2377G= n.813G= c.5378G= (p.Arg1793=) c.5333G= (p.Arg1778=) c.1499G= n.734G= n.805G= c.5405G= (p.Arg1802=) n.132G= c.4457G= (p.Arg1486=) c.5633G= (p.Arg1878=) c.5522G= (p.Arg1841=) c.5444G= (p.Arg1815=) c.5096G= (p.Arg1699=) c.4721G= (p.Arg1574=) c.5528G= (p.Arg1843=) c.5630G= (p.Arg1877=) c.5573G= (p.Arg1858=) c.5549G= (p.Arg1850=) c.5504G= (p.Arg1835=) | |
3 | g.53801395G>T | CA353251757 | CACNA1D | c.5438G>T (p.Arg1813Leu) n.2377G>T n.813G>T c.5378G>T (p.Arg1793Leu) c.5333G>T (p.Arg1778Leu) c.1499G>T n.734G>T n.805G>T c.5405G>T (p.Arg1802Leu) n.132G>T c.4457G>T (p.Arg1486Leu) c.5633G>T (p.Arg1878Leu) c.5522G>T (p.Arg1841Leu) c.5444G>T (p.Arg1815Leu) c.5096G>T (p.Arg1699Leu) c.4721G>T (p.Arg1574Leu) c.5528G>T (p.Arg1843Leu) c.5630G>T (p.Arg1877Leu) c.5573G>T (p.Arg1858Leu) c.5549G>T (p.Arg1850Leu) c.5504G>T (p.Arg1835Leu) | |
3 | g.53801396G>A | CA433804134 | CACNA1D | c.5439G>A (p.Arg1813=) n.2378G>A n.814G>A c.5379G>A (p.Arg1793=) c.5334G>A (p.Arg1778=) c.1500G>A n.735G>A n.806G>A c.5406G>A (p.Arg1802=) n.133G>A c.4458G>A (p.Arg1486=) c.5634G>A (p.Arg1878=) c.5523G>A (p.Arg1841=) c.5445G>A (p.Arg1815=) c.5097G>A (p.Arg1699=) c.4722G>A (p.Arg1574=) c.5529G>A (p.Arg1843=) c.5631G>A (p.Arg1877=) c.5574G>A (p.Arg1858=) c.5550G>A (p.Arg1850=) c.5505G>A (p.Arg1835=) | gnomAD v4 |
3 | g.53801396G>C | CA433804135 | CACNA1D | c.5439G>C (p.Arg1813=) n.2378G>C n.814G>C c.5379G>C (p.Arg1793=) c.5334G>C (p.Arg1778=) c.1500G>C n.735G>C n.806G>C c.5406G>C (p.Arg1802=) n.133G>C c.4458G>C (p.Arg1486=) c.5634G>C (p.Arg1878=) c.5523G>C (p.Arg1841=) c.5445G>C (p.Arg1815=) c.5097G>C (p.Arg1699=) c.4722G>C (p.Arg1574=) c.5529G>C (p.Arg1843=) c.5631G>C (p.Arg1877=) c.5574G>C (p.Arg1858=) c.5550G>C (p.Arg1850=) c.5505G>C (p.Arg1835=) | |
3 | g.53801396G>T | CA433804136 | CACNA1D | c.5439G>T (p.Arg1813=) n.2378G>T n.814G>T c.5379G>T (p.Arg1793=) c.5334G>T (p.Arg1778=) c.1500G>T n.735G>T n.806G>T c.5406G>T (p.Arg1802=) n.133G>T c.4458G>T (p.Arg1486=) c.5634G>T (p.Arg1878=) c.5523G>T (p.Arg1841=) c.5445G>T (p.Arg1815=) c.5097G>T (p.Arg1699=) c.4722G>T (p.Arg1574=) c.5529G>T (p.Arg1843=) c.5631G>T (p.Arg1877=) c.5574G>T (p.Arg1858=) c.5550G>T (p.Arg1850=) c.5505G>T (p.Arg1835=) | |
3 | g.53801397G>A | CA353251758 | CACNA1D | c.5440G>A (p.Glu1814Lys) n.2379G>A n.815G>A c.5380G>A (p.Glu1794Lys) c.5335G>A (p.Glu1779Lys) c.1501G>A n.736G>A n.807G>A c.5407G>A (p.Glu1803Lys) n.134G>A c.4459G>A (p.Glu1487Lys) c.5635G>A (p.Glu1879Lys) c.5524G>A (p.Glu1842Lys) c.5446G>A (p.Glu1816Lys) c.5098G>A (p.Glu1700Lys) c.4723G>A (p.Glu1575Lys) c.5530G>A (p.Glu1844Lys) c.5632G>A (p.Glu1878Lys) c.5575G>A (p.Glu1859Lys) c.5551G>A (p.Glu1851Lys) c.5506G>A (p.Glu1836Lys) | COSMIC COSMIC |
3 | g.53801397G>C | CA353251760 | CACNA1D | c.5440G>C (p.Glu1814Gln) n.2379G>C n.815G>C c.5380G>C (p.Glu1794Gln) c.5335G>C (p.Glu1779Gln) c.1501G>C n.736G>C n.807G>C c.5407G>C (p.Glu1803Gln) n.134G>C c.4459G>C (p.Glu1487Gln) c.5635G>C (p.Glu1879Gln) c.5524G>C (p.Glu1842Gln) c.5446G>C (p.Glu1816Gln) c.5098G>C (p.Glu1700Gln) c.4723G>C (p.Glu1575Gln) c.5530G>C (p.Glu1844Gln) c.5632G>C (p.Glu1878Gln) c.5575G>C (p.Glu1859Gln) c.5551G>C (p.Glu1851Gln) c.5506G>C (p.Glu1836Gln) | |
3 | g.53801397G>T | CA353251762 | CACNA1D | c.5440G>T (p.Glu1814Ter) n.2379G>T n.815G>T c.5380G>T (p.Glu1794Ter) c.5335G>T (p.Glu1779Ter) c.1501G>T n.736G>T n.807G>T c.5407G>T (p.Glu1803Ter) n.134G>T c.4459G>T (p.Glu1487Ter) c.5635G>T (p.Glu1879Ter) c.5524G>T (p.Glu1842Ter) c.5446G>T (p.Glu1816Ter) c.5098G>T (p.Glu1700Ter) c.4723G>T (p.Glu1575Ter) c.5530G>T (p.Glu1844Ter) c.5632G>T (p.Glu1878Ter) c.5575G>T (p.Glu1859Ter) c.5551G>T (p.Glu1851Ter) c.5506G>T (p.Glu1836Ter) | |
3 | g.53801398A>C | CA353251767 | CACNA1D | c.5441A>C (p.Glu1814Ala) n.2380A>C n.816A>C c.5381A>C (p.Glu1794Ala) c.5336A>C (p.Glu1779Ala) c.1502A>C n.737A>C n.808A>C c.5408A>C (p.Glu1803Ala) n.135A>C c.4460A>C (p.Glu1487Ala) c.5636A>C (p.Glu1879Ala) c.5525A>C (p.Glu1842Ala) c.5447A>C (p.Glu1816Ala) c.5099A>C (p.Glu1700Ala) c.4724A>C (p.Glu1575Ala) c.5531A>C (p.Glu1844Ala) c.5633A>C (p.Glu1878Ala) c.5576A>C (p.Glu1859Ala) c.5552A>C (p.Glu1851Ala) c.5507A>C (p.Glu1836Ala) | |
3 | g.53801398A>G | CA353251768 | CACNA1D | c.5441A>G (p.Glu1814Gly) n.2380A>G n.816A>G c.5381A>G (p.Glu1794Gly) c.5336A>G (p.Glu1779Gly) c.1502A>G n.737A>G n.808A>G c.5408A>G (p.Glu1803Gly) n.135A>G c.4460A>G (p.Glu1487Gly) c.5636A>G (p.Glu1879Gly) c.5525A>G (p.Glu1842Gly) c.5447A>G (p.Glu1816Gly) c.5099A>G (p.Glu1700Gly) c.4724A>G (p.Glu1575Gly) c.5531A>G (p.Glu1844Gly) c.5633A>G (p.Glu1878Gly) c.5576A>G (p.Glu1859Gly) c.5552A>G (p.Glu1851Gly) c.5507A>G (p.Glu1836Gly) | |
3 | g.53801398A>T | CA353251765 | CACNA1D | c.5441A>T (p.Glu1814Val) n.2380A>T n.816A>T c.5381A>T (p.Glu1794Val) c.5336A>T (p.Glu1779Val) c.1502A>T n.737A>T n.808A>T c.5408A>T (p.Glu1803Val) n.135A>T c.4460A>T (p.Glu1487Val) c.5636A>T (p.Glu1879Val) c.5525A>T (p.Glu1842Val) c.5447A>T (p.Glu1816Val) c.5099A>T (p.Glu1700Val) c.4724A>T (p.Glu1575Val) c.5531A>T (p.Glu1844Val) c.5633A>T (p.Glu1878Val) c.5576A>T (p.Glu1859Val) c.5552A>T (p.Glu1851Val) c.5507A>T (p.Glu1836Val) | |
3 | g.53801399G>A | CA433804139 | CACNA1D | c.5442G>A (p.Glu1814=) n.2381G>A n.817G>A c.5382G>A (p.Glu1794=) c.5337G>A (p.Glu1779=) c.1503G>A n.738G>A n.809G>A c.5409G>A (p.Glu1803=) n.136G>A c.4461G>A (p.Glu1487=) c.5637G>A (p.Glu1879=) c.5526G>A (p.Glu1842=) c.5448G>A (p.Glu1816=) c.5100G>A (p.Glu1700=) c.4725G>A (p.Glu1575=) c.5532G>A (p.Glu1844=) c.5634G>A (p.Glu1878=) c.5577G>A (p.Glu1859=) c.5553G>A (p.Glu1851=) c.5508G>A (p.Glu1836=) | |
3 | g.53801399G>C | CA353251770 | CACNA1D | c.5442G>C (p.Glu1814Asp) n.2381G>C n.817G>C c.5382G>C (p.Glu1794Asp) c.5337G>C (p.Glu1779Asp) c.1503G>C n.738G>C n.809G>C c.5409G>C (p.Glu1803Asp) n.136G>C c.4461G>C (p.Glu1487Asp) c.5637G>C (p.Glu1879Asp) c.5526G>C (p.Glu1842Asp) c.5448G>C (p.Glu1816Asp) c.5100G>C (p.Glu1700Asp) c.4725G>C (p.Glu1575Asp) c.5532G>C (p.Glu1844Asp) c.5634G>C (p.Glu1878Asp) c.5577G>C (p.Glu1859Asp) c.5553G>C (p.Glu1851Asp) c.5508G>C (p.Glu1836Asp) | |
3 | g.53801399G>T | CA353251771 | CACNA1D | c.5442G>T (p.Glu1814Asp) n.2381G>T n.817G>T c.5382G>T (p.Glu1794Asp) c.5337G>T (p.Glu1779Asp) c.1503G>T n.738G>T n.809G>T c.5409G>T (p.Glu1803Asp) n.136G>T c.4461G>T (p.Glu1487Asp) c.5637G>T (p.Glu1879Asp) c.5526G>T (p.Glu1842Asp) c.5448G>T (p.Glu1816Asp) c.5100G>T (p.Glu1700Asp) c.4725G>T (p.Glu1575Asp) c.5532G>T (p.Glu1844Asp) c.5634G>T (p.Glu1878Asp) c.5577G>T (p.Glu1859Asp) c.5553G>T (p.Glu1851Asp) c.5508G>T (p.Glu1836Asp) | |
3 | g.53801400C>A | CA353251774 | CACNA1D | c.5443C>A (p.Pro1815Thr) n.2382C>A n.818C>A c.5383C>A (p.Pro1795Thr) c.5338C>A (p.Pro1780Thr) c.1504C>A n.739C>A n.810C>A c.5410C>A (p.Pro1804Thr) n.137C>A c.4462C>A (p.Pro1488Thr) c.5638C>A (p.Pro1880Thr) c.5527C>A (p.Pro1843Thr) c.5449C>A (p.Pro1817Thr) c.5101C>A (p.Pro1701Thr) c.4726C>A (p.Pro1576Thr) c.5533C>A (p.Pro1845Thr) c.5635C>A (p.Pro1879Thr) c.5578C>A (p.Pro1860Thr) c.5554C>A (p.Pro1852Thr) c.5509C>A (p.Pro1837Thr) | gnomAD v4 |
3 | g.53801400C>G | CA353251776 | CACNA1D | c.5443C>G (p.Pro1815Ala) n.2382C>G n.818C>G c.5383C>G (p.Pro1795Ala) c.5338C>G (p.Pro1780Ala) c.1504C>G n.739C>G n.810C>G c.5410C>G (p.Pro1804Ala) n.137C>G c.4462C>G (p.Pro1488Ala) c.5638C>G (p.Pro1880Ala) c.5527C>G (p.Pro1843Ala) c.5449C>G (p.Pro1817Ala) c.5101C>G (p.Pro1701Ala) c.4726C>G (p.Pro1576Ala) c.5533C>G (p.Pro1845Ala) c.5635C>G (p.Pro1879Ala) c.5578C>G (p.Pro1860Ala) c.5554C>G (p.Pro1852Ala) c.5509C>G (p.Pro1837Ala) | |
3 | g.53801400C>T | CA353251777 | CACNA1D | c.5443C>T (p.Pro1815Ser) n.2382C>T n.818C>T c.5383C>T (p.Pro1795Ser) c.5338C>T (p.Pro1780Ser) c.1504C>T n.739C>T n.810C>T c.5410C>T (p.Pro1804Ser) n.137C>T c.4462C>T (p.Pro1488Ser) c.5638C>T (p.Pro1880Ser) c.5527C>T (p.Pro1843Ser) c.5449C>T (p.Pro1817Ser) c.5101C>T (p.Pro1701Ser) c.4726C>T (p.Pro1576Ser) c.5533C>T (p.Pro1845Ser) c.5635C>T (p.Pro1879Ser) c.5578C>T (p.Pro1860Ser) c.5554C>T (p.Pro1852Ser) c.5509C>T (p.Pro1837Ser) | |
3 | g.53801401C>A | CA353251780 | CACNA1D | c.5444C>A (p.Pro1815His) n.2383C>A n.819C>A c.5384C>A (p.Pro1795His) c.5339C>A (p.Pro1780His) c.1505C>A n.740C>A n.811C>A c.5411C>A (p.Pro1804His) n.138C>A c.4463C>A (p.Pro1488His) c.5639C>A (p.Pro1880His) c.5528C>A (p.Pro1843His) c.5450C>A (p.Pro1817His) c.5102C>A (p.Pro1701His) c.4727C>A (p.Pro1576His) c.5534C>A (p.Pro1845His) c.5636C>A (p.Pro1879His) c.5579C>A (p.Pro1860His) c.5555C>A (p.Pro1852His) c.5510C>A (p.Pro1837His) | dbSNP gnomAD v2 |
3 | g.53801401C= | CA1365484230 | CACNA1D | c.5444C= (p.Pro1815=) n.2383C= n.819C= c.5384C= (p.Pro1795=) c.5339C= (p.Pro1780=) c.1505C= n.740C= n.811C= c.5411C= (p.Pro1804=) n.138C= c.4463C= (p.Pro1488=) c.5639C= (p.Pro1880=) c.5528C= (p.Pro1843=) c.5450C= (p.Pro1817=) c.5102C= (p.Pro1701=) c.4727C= (p.Pro1576=) c.5534C= (p.Pro1845=) c.5636C= (p.Pro1879=) c.5579C= (p.Pro1860=) c.5555C= (p.Pro1852=) c.5510C= (p.Pro1837=) | |
3 | g.53801401C>G | CA353251782 | CACNA1D | c.5444C>G (p.Pro1815Arg) n.2383C>G n.819C>G c.5384C>G (p.Pro1795Arg) c.5339C>G (p.Pro1780Arg) c.1505C>G n.740C>G n.811C>G c.5411C>G (p.Pro1804Arg) n.138C>G c.4463C>G (p.Pro1488Arg) c.5639C>G (p.Pro1880Arg) c.5528C>G (p.Pro1843Arg) c.5450C>G (p.Pro1817Arg) c.5102C>G (p.Pro1701Arg) c.4727C>G (p.Pro1576Arg) c.5534C>G (p.Pro1845Arg) c.5636C>G (p.Pro1879Arg) c.5579C>G (p.Pro1860Arg) c.5555C>G (p.Pro1852Arg) c.5510C>G (p.Pro1837Arg) | |
3 | g.53801401C>T | CA353251784 | CACNA1D | c.5444C>T (p.Pro1815Leu) n.2383C>T n.819C>T c.5384C>T (p.Pro1795Leu) c.5339C>T (p.Pro1780Leu) c.1505C>T n.740C>T n.811C>T c.5411C>T (p.Pro1804Leu) n.138C>T c.4463C>T (p.Pro1488Leu) c.5639C>T (p.Pro1880Leu) c.5528C>T (p.Pro1843Leu) c.5450C>T (p.Pro1817Leu) c.5102C>T (p.Pro1701Leu) c.4727C>T (p.Pro1576Leu) c.5534C>T (p.Pro1845Leu) c.5636C>T (p.Pro1879Leu) c.5579C>T (p.Pro1860Leu) c.5555C>T (p.Pro1852Leu) c.5510C>T (p.Pro1837Leu) | |
3 | g.53801402T>A | CA433804145 | CACNA1D | c.5445T>A (p.Pro1815=) n.2384T>A n.820T>A c.5385T>A (p.Pro1795=) c.5340T>A (p.Pro1780=) c.1506T>A n.741T>A n.812T>A c.5412T>A (p.Pro1804=) n.139T>A c.4464T>A (p.Pro1488=) c.5640T>A (p.Pro1880=) c.5529T>A (p.Pro1843=) c.5451T>A (p.Pro1817=) c.5103T>A (p.Pro1701=) c.4728T>A (p.Pro1576=) c.5535T>A (p.Pro1845=) c.5637T>A (p.Pro1879=) c.5580T>A (p.Pro1860=) c.5556T>A (p.Pro1852=) c.5511T>A (p.Pro1837=) | |
3 | g.53801402T>C | CA433804144 | CACNA1D | c.5445T>C (p.Pro1815=) n.2384T>C n.820T>C c.5385T>C (p.Pro1795=) c.5340T>C (p.Pro1780=) c.1506T>C n.741T>C n.812T>C c.5412T>C (p.Pro1804=) n.139T>C c.4464T>C (p.Pro1488=) c.5640T>C (p.Pro1880=) c.5529T>C (p.Pro1843=) c.5451T>C (p.Pro1817=) c.5103T>C (p.Pro1701=) c.4728T>C (p.Pro1576=) c.5535T>C (p.Pro1845=) c.5637T>C (p.Pro1879=) c.5580T>C (p.Pro1860=) c.5556T>C (p.Pro1852=) c.5511T>C (p.Pro1837=) | |
3 | g.53801402T>G | CA433804143 | CACNA1D | c.5445T>G (p.Pro1815=) n.2384T>G n.820T>G c.5385T>G (p.Pro1795=) c.5340T>G (p.Pro1780=) c.1506T>G n.741T>G n.812T>G c.5412T>G (p.Pro1804=) n.139T>G c.4464T>G (p.Pro1488=) c.5640T>G (p.Pro1880=) c.5529T>G (p.Pro1843=) c.5451T>G (p.Pro1817=) c.5103T>G (p.Pro1701=) c.4728T>G (p.Pro1576=) c.5535T>G (p.Pro1845=) c.5637T>G (p.Pro1879=) c.5580T>G (p.Pro1860=) c.5556T>G (p.Pro1852=) c.5511T>G (p.Pro1837=) | |
3 | g.53801403C>A | CA353251786 | CACNA1D | c.5446C>A (p.Gln1816Lys) n.2385C>A n.821C>A c.5386C>A (p.Gln1796Lys) c.5341C>A (p.Gln1781Lys) c.1507C>A n.742C>A n.813C>A c.5413C>A (p.Gln1805Lys) n.140C>A c.4465C>A (p.Gln1489Lys) c.5641C>A (p.Gln1881Lys) c.5530C>A (p.Gln1844Lys) c.5452C>A (p.Gln1818Lys) c.5104C>A (p.Gln1702Lys) c.4729C>A (p.Gln1577Lys) c.5536C>A (p.Gln1846Lys) c.5638C>A (p.Gln1880Lys) c.5581C>A (p.Gln1861Lys) c.5557C>A (p.Gln1853Lys) c.5512C>A (p.Gln1838Lys) | |
3 | g.53801403C>G | CA353251788 | CACNA1D | c.5446C>G (p.Gln1816Glu) n.2385C>G n.821C>G c.5386C>G (p.Gln1796Glu) c.5341C>G (p.Gln1781Glu) c.1507C>G n.742C>G n.813C>G c.5413C>G (p.Gln1805Glu) n.140C>G c.4465C>G (p.Gln1489Glu) c.5641C>G (p.Gln1881Glu) c.5530C>G (p.Gln1844Glu) c.5452C>G (p.Gln1818Glu) c.5104C>G (p.Gln1702Glu) c.4729C>G (p.Gln1577Glu) c.5536C>G (p.Gln1846Glu) c.5638C>G (p.Gln1880Glu) c.5581C>G (p.Gln1861Glu) c.5557C>G (p.Gln1853Glu) c.5512C>G (p.Gln1838Glu) | |
3 | g.53801403C>T | CA353251790 | CACNA1D | c.5446C>T (p.Gln1816Ter) n.2385C>T n.821C>T c.5386C>T (p.Gln1796Ter) c.5341C>T (p.Gln1781Ter) c.1507C>T n.742C>T n.813C>T c.5413C>T (p.Gln1805Ter) n.140C>T c.4465C>T (p.Gln1489Ter) c.5641C>T (p.Gln1881Ter) c.5530C>T (p.Gln1844Ter) c.5452C>T (p.Gln1818Ter) c.5104C>T (p.Gln1702Ter) c.4729C>T (p.Gln1577Ter) c.5536C>T (p.Gln1846Ter) c.5638C>T (p.Gln1880Ter) c.5581C>T (p.Gln1861Ter) c.5557C>T (p.Gln1853Ter) c.5512C>T (p.Gln1838Ter) | |
3 | g.53801404A>C | CA353251794 | CACNA1D | c.5447A>C (p.Gln1816Pro) n.2386A>C n.822A>C c.5387A>C (p.Gln1796Pro) c.5342A>C (p.Gln1781Pro) c.1508A>C n.743A>C n.814A>C c.5414A>C (p.Gln1805Pro) n.141A>C c.4466A>C (p.Gln1489Pro) c.5642A>C (p.Gln1881Pro) c.5531A>C (p.Gln1844Pro) c.5453A>C (p.Gln1818Pro) c.5105A>C (p.Gln1702Pro) c.4730A>C (p.Gln1577Pro) c.5537A>C (p.Gln1846Pro) c.5639A>C (p.Gln1880Pro) c.5582A>C (p.Gln1861Pro) c.5558A>C (p.Gln1853Pro) c.5513A>C (p.Gln1838Pro) | |
3 | g.53801404A>G | CA353251796 | CACNA1D | c.5447A>G (p.Gln1816Arg) n.2386A>G n.822A>G c.5387A>G (p.Gln1796Arg) c.5342A>G (p.Gln1781Arg) c.1508A>G n.743A>G n.814A>G c.5414A>G (p.Gln1805Arg) n.141A>G c.4466A>G (p.Gln1489Arg) c.5642A>G (p.Gln1881Arg) c.5531A>G (p.Gln1844Arg) c.5453A>G (p.Gln1818Arg) c.5105A>G (p.Gln1702Arg) c.4730A>G (p.Gln1577Arg) c.5537A>G (p.Gln1846Arg) c.5639A>G (p.Gln1880Arg) c.5582A>G (p.Gln1861Arg) c.5558A>G (p.Gln1853Arg) c.5513A>G (p.Gln1838Arg) | |
3 | g.53801404A>T | CA353251792 | CACNA1D | c.5447A>T (p.Gln1816Leu) n.2386A>T n.822A>T c.5387A>T (p.Gln1796Leu) c.5342A>T (p.Gln1781Leu) c.1508A>T n.743A>T n.814A>T c.5414A>T (p.Gln1805Leu) n.141A>T c.4466A>T (p.Gln1489Leu) c.5642A>T (p.Gln1881Leu) c.5531A>T (p.Gln1844Leu) c.5453A>T (p.Gln1818Leu) c.5105A>T (p.Gln1702Leu) c.4730A>T (p.Gln1577Leu) c.5537A>T (p.Gln1846Leu) c.5639A>T (p.Gln1880Leu) c.5582A>T (p.Gln1861Leu) c.5558A>T (p.Gln1853Leu) c.5513A>T (p.Gln1838Leu) | |
3 | g.53801405G>A | CA433804147 | CACNA1D | c.5448G>A (p.Gln1816=) n.2387G>A n.823G>A c.5388G>A (p.Gln1796=) c.5343G>A (p.Gln1781=) c.1509G>A n.744G>A n.815G>A c.5415G>A (p.Gln1805=) n.142G>A c.4467G>A (p.Gln1489=) c.5643G>A (p.Gln1881=) c.5532G>A (p.Gln1844=) c.5454G>A (p.Gln1818=) c.5106G>A (p.Gln1702=) c.4731G>A (p.Gln1577=) c.5538G>A (p.Gln1846=) c.5640G>A (p.Gln1880=) c.5583G>A (p.Gln1861=) c.5559G>A (p.Gln1853=) c.5514G>A (p.Gln1838=) | |
3 | g.53801405G>C | CA353251798 | CACNA1D | c.5448G>C (p.Gln1816His) n.2387G>C n.823G>C c.5388G>C (p.Gln1796His) c.5343G>C (p.Gln1781His) c.1509G>C n.744G>C n.815G>C c.5415G>C (p.Gln1805His) n.142G>C c.4467G>C (p.Gln1489His) c.5643G>C (p.Gln1881His) c.5532G>C (p.Gln1844His) c.5454G>C (p.Gln1818His) c.5106G>C (p.Gln1702His) c.4731G>C (p.Gln1577His) c.5538G>C (p.Gln1846His) c.5640G>C (p.Gln1880His) c.5583G>C (p.Gln1861His) c.5559G>C (p.Gln1853His) c.5514G>C (p.Gln1838His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.53801405G= | CA1365484231 | CACNA1D | c.5448G= (p.Gln1816=) n.2387G= n.823G= c.5388G= (p.Gln1796=) c.5343G= (p.Gln1781=) c.1509G= n.744G= n.815G= c.5415G= (p.Gln1805=) n.142G= c.4467G= (p.Gln1489=) c.5643G= (p.Gln1881=) c.5532G= (p.Gln1844=) c.5454G= (p.Gln1818=) c.5106G= (p.Gln1702=) c.4731G= (p.Gln1577=) c.5538G= (p.Gln1846=) c.5640G= (p.Gln1880=) c.5583G= (p.Gln1861=) c.5559G= (p.Gln1853=) c.5514G= (p.Gln1838=) | |
3 | g.53801405G>T | CA353251800 | CACNA1D | c.5448G>T (p.Gln1816His) n.2387G>T n.823G>T c.5388G>T (p.Gln1796His) c.5343G>T (p.Gln1781His) c.1509G>T n.744G>T n.815G>T c.5415G>T (p.Gln1805His) n.142G>T c.4467G>T (p.Gln1489His) c.5643G>T (p.Gln1881His) c.5532G>T (p.Gln1844His) c.5454G>T (p.Gln1818His) c.5106G>T (p.Gln1702His) c.4731G>T (p.Gln1577His) c.5538G>T (p.Gln1846His) c.5640G>T (p.Gln1880His) c.5583G>T (p.Gln1861His) c.5559G>T (p.Gln1853His) c.5514G>T (p.Gln1838His) | |
3 | g.53801406A>C | CA433804148 | CACNA1D | c.5449A>C (p.Arg1817=) n.2388A>C n.824A>C c.5389A>C (p.Arg1797=) c.5344A>C (p.Arg1782=) c.1510A>C n.745A>C n.816A>C c.5416A>C (p.Arg1806=) n.143A>C c.4468A>C (p.Arg1490=) c.5644A>C (p.Arg1882=) c.5533A>C (p.Arg1845=) c.5455A>C (p.Arg1819=) c.5107A>C (p.Arg1703=) c.4732A>C (p.Arg1578=) c.5539A>C (p.Arg1847=) c.5641A>C (p.Arg1881=) c.5584A>C (p.Arg1862=) c.5560A>C (p.Arg1854=) c.5515A>C (p.Arg1839=) | |
3 | g.53801406A>G | CA353251802 | CACNA1D | c.5449A>G (p.Arg1817Gly) n.2388A>G n.824A>G c.5389A>G (p.Arg1797Gly) c.5344A>G (p.Arg1782Gly) c.1510A>G n.745A>G n.816A>G c.5416A>G (p.Arg1806Gly) n.143A>G c.4468A>G (p.Arg1490Gly) c.5644A>G (p.Arg1882Gly) c.5533A>G (p.Arg1845Gly) c.5455A>G (p.Arg1819Gly) c.5107A>G (p.Arg1703Gly) c.4732A>G (p.Arg1578Gly) c.5539A>G (p.Arg1847Gly) c.5641A>G (p.Arg1881Gly) c.5584A>G (p.Arg1862Gly) c.5560A>G (p.Arg1854Gly) c.5515A>G (p.Arg1839Gly) | |
3 | g.53801406A>T | CA353251804 | CACNA1D | c.5449A>T (p.Arg1817Ter) n.2388A>T n.824A>T c.5389A>T (p.Arg1797Ter) c.5344A>T (p.Arg1782Ter) c.1510A>T n.745A>T n.816A>T c.5416A>T (p.Arg1806Ter) n.143A>T c.4468A>T (p.Arg1490Ter) c.5644A>T (p.Arg1882Ter) c.5533A>T (p.Arg1845Ter) c.5455A>T (p.Arg1819Ter) c.5107A>T (p.Arg1703Ter) c.4732A>T (p.Arg1578Ter) c.5539A>T (p.Arg1847Ter) c.5641A>T (p.Arg1881Ter) c.5584A>T (p.Arg1862Ter) c.5560A>T (p.Arg1854Ter) c.5515A>T (p.Arg1839Ter) | |
3 | g.53801407G>A | CA353251810 | CACNA1D | c.5450G>A (p.Arg1817Lys) n.2389G>A n.825G>A c.5390G>A (p.Arg1797Lys) c.5345G>A (p.Arg1782Lys) c.1511G>A n.746G>A n.817G>A c.5417G>A (p.Arg1806Lys) n.144G>A c.4469G>A (p.Arg1490Lys) c.5645G>A (p.Arg1882Lys) c.5534G>A (p.Arg1845Lys) c.5456G>A (p.Arg1819Lys) c.5108G>A (p.Arg1703Lys) c.4733G>A (p.Arg1578Lys) c.5540G>A (p.Arg1847Lys) c.5642G>A (p.Arg1881Lys) c.5585G>A (p.Arg1862Lys) c.5561G>A (p.Arg1854Lys) c.5516G>A (p.Arg1839Lys) | gnomAD v4 |
3 | g.53801407G>C | CA353251808 | CACNA1D | c.5450G>C (p.Arg1817Thr) n.2389G>C n.825G>C c.5390G>C (p.Arg1797Thr) c.5345G>C (p.Arg1782Thr) c.1511G>C n.746G>C n.817G>C c.5417G>C (p.Arg1806Thr) n.144G>C c.4469G>C (p.Arg1490Thr) c.5645G>C (p.Arg1882Thr) c.5534G>C (p.Arg1845Thr) c.5456G>C (p.Arg1819Thr) c.5108G>C (p.Arg1703Thr) c.4733G>C (p.Arg1578Thr) c.5540G>C (p.Arg1847Thr) c.5642G>C (p.Arg1881Thr) c.5585G>C (p.Arg1862Thr) c.5561G>C (p.Arg1854Thr) c.5516G>C (p.Arg1839Thr) | |
3 | g.53801407G>T | CA353251806 | CACNA1D | c.5450G>T (p.Arg1817Ile) n.2389G>T n.825G>T c.5390G>T (p.Arg1797Ile) c.5345G>T (p.Arg1782Ile) c.1511G>T n.746G>T n.817G>T c.5417G>T (p.Arg1806Ile) n.144G>T c.4469G>T (p.Arg1490Ile) c.5645G>T (p.Arg1882Ile) c.5534G>T (p.Arg1845Ile) c.5456G>T (p.Arg1819Ile) c.5108G>T (p.Arg1703Ile) c.4733G>T (p.Arg1578Ile) c.5540G>T (p.Arg1847Ile) c.5642G>T (p.Arg1881Ile) c.5585G>T (p.Arg1862Ile) c.5561G>T (p.Arg1854Ile) c.5516G>T (p.Arg1839Ile) | COSMIC COSMIC |
3 | g.53801408A>C | CA353251812 | CACNA1D | c.5451A>C (p.Arg1817Ser) n.2390A>C n.826A>C c.5391A>C (p.Arg1797Ser) c.5346A>C (p.Arg1782Ser) c.1512A>C n.747A>C n.818A>C c.5418A>C (p.Arg1806Ser) n.145A>C c.4470A>C (p.Arg1490Ser) c.5646A>C (p.Arg1882Ser) c.5535A>C (p.Arg1845Ser) c.5457A>C (p.Arg1819Ser) c.5109A>C (p.Arg1703Ser) c.4734A>C (p.Arg1578Ser) c.5541A>C (p.Arg1847Ser) c.5643A>C (p.Arg1881Ser) c.5586A>C (p.Arg1862Ser) c.5562A>C (p.Arg1854Ser) c.5517A>C (p.Arg1839Ser) | |
3 | g.53801408A>G | CA433804149 | CACNA1D | c.5451A>G (p.Arg1817=) n.2390A>G n.826A>G c.5391A>G (p.Arg1797=) c.5346A>G (p.Arg1782=) c.1512A>G n.747A>G n.818A>G c.5418A>G (p.Arg1806=) n.145A>G c.4470A>G (p.Arg1490=) c.5646A>G (p.Arg1882=) c.5535A>G (p.Arg1845=) c.5457A>G (p.Arg1819=) c.5109A>G (p.Arg1703=) c.4734A>G (p.Arg1578=) c.5541A>G (p.Arg1847=) c.5643A>G (p.Arg1881=) c.5586A>G (p.Arg1862=) c.5562A>G (p.Arg1854=) c.5517A>G (p.Arg1839=) | |
3 | g.53801408A>T | CA353251814 | CACNA1D | c.5451A>T (p.Arg1817Ser) n.2390A>T n.826A>T c.5391A>T (p.Arg1797Ser) c.5346A>T (p.Arg1782Ser) c.1512A>T n.747A>T n.818A>T c.5418A>T (p.Arg1806Ser) n.145A>T c.4470A>T (p.Arg1490Ser) c.5646A>T (p.Arg1882Ser) c.5535A>T (p.Arg1845Ser) c.5457A>T (p.Arg1819Ser) c.5109A>T (p.Arg1703Ser) c.4734A>T (p.Arg1578Ser) c.5541A>T (p.Arg1847Ser) c.5643A>T (p.Arg1881Ser) c.5586A>T (p.Arg1862Ser) c.5562A>T (p.Arg1854Ser) c.5517A>T (p.Arg1839Ser) | |
3 | g.53801409A>C | CA433804150 | CACNA1D | c.5452A>C (p.Arg1818=) n.2391A>C n.827A>C c.5392A>C (p.Arg1798=) c.5347A>C (p.Arg1783=) c.1513A>C n.748A>C n.819A>C c.5419A>C (p.Arg1807=) n.146A>C c.4471A>C (p.Arg1491=) c.5647A>C (p.Arg1883=) c.5536A>C (p.Arg1846=) c.5458A>C (p.Arg1820=) c.5110A>C (p.Arg1704=) c.4735A>C (p.Arg1579=) c.5542A>C (p.Arg1848=) c.5644A>C (p.Arg1882=) c.5587A>C (p.Arg1863=) c.5563A>C (p.Arg1855=) c.5518A>C (p.Arg1840=) | |
3 | g.53801409A>G | CA353251817 | CACNA1D | c.5452A>G (p.Arg1818Gly) n.2391A>G n.827A>G c.5392A>G (p.Arg1798Gly) c.5347A>G (p.Arg1783Gly) c.1513A>G n.748A>G n.819A>G c.5419A>G (p.Arg1807Gly) n.146A>G c.4471A>G (p.Arg1491Gly) c.5647A>G (p.Arg1883Gly) c.5536A>G (p.Arg1846Gly) c.5458A>G (p.Arg1820Gly) c.5110A>G (p.Arg1704Gly) c.4735A>G (p.Arg1579Gly) c.5542A>G (p.Arg1848Gly) c.5644A>G (p.Arg1882Gly) c.5587A>G (p.Arg1863Gly) c.5563A>G (p.Arg1855Gly) c.5518A>G (p.Arg1840Gly) | |
3 | g.53801409A>T | CA353251818 | CACNA1D | c.5452A>T (p.Arg1818Trp) n.2391A>T n.827A>T c.5392A>T (p.Arg1798Trp) c.5347A>T (p.Arg1783Trp) c.1513A>T n.748A>T n.819A>T c.5419A>T (p.Arg1807Trp) n.146A>T c.4471A>T (p.Arg1491Trp) c.5647A>T (p.Arg1883Trp) c.5536A>T (p.Arg1846Trp) c.5458A>T (p.Arg1820Trp) c.5110A>T (p.Arg1704Trp) c.4735A>T (p.Arg1579Trp) c.5542A>T (p.Arg1848Trp) c.5644A>T (p.Arg1882Trp) c.5587A>T (p.Arg1863Trp) c.5563A>T (p.Arg1855Trp) c.5518A>T (p.Arg1840Trp) | |
3 | g.53801410G>A | CA353251822 | CACNA1D | c.5453G>A (p.Arg1818Lys) n.2392G>A n.828G>A c.5393G>A (p.Arg1798Lys) c.5348G>A (p.Arg1783Lys) c.1514G>A n.749G>A n.820G>A c.5420G>A (p.Arg1807Lys) n.147G>A c.4472G>A (p.Arg1491Lys) c.5648G>A (p.Arg1883Lys) c.5537G>A (p.Arg1846Lys) c.5459G>A (p.Arg1820Lys) c.5111G>A (p.Arg1704Lys) c.4736G>A (p.Arg1579Lys) c.5543G>A (p.Arg1848Lys) c.5645G>A (p.Arg1882Lys) c.5588G>A (p.Arg1863Lys) c.5564G>A (p.Arg1855Lys) c.5519G>A (p.Arg1840Lys) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.53801410G>C | CA353251823 | CACNA1D | c.5453G>C (p.Arg1818Thr) n.2392G>C n.828G>C c.5393G>C (p.Arg1798Thr) c.5348G>C (p.Arg1783Thr) c.1514G>C n.749G>C n.820G>C c.5420G>C (p.Arg1807Thr) n.147G>C c.4472G>C (p.Arg1491Thr) c.5648G>C (p.Arg1883Thr) c.5537G>C (p.Arg1846Thr) c.5459G>C (p.Arg1820Thr) c.5111G>C (p.Arg1704Thr) c.4736G>C (p.Arg1579Thr) c.5543G>C (p.Arg1848Thr) c.5645G>C (p.Arg1882Thr) c.5588G>C (p.Arg1863Thr) c.5564G>C (p.Arg1855Thr) c.5519G>C (p.Arg1840Thr) | |
3 | g.53801410G= | CA1365484232 | CACNA1D | c.5453G= (p.Arg1818=) n.2392G= n.828G= c.5393G= (p.Arg1798=) c.5348G= (p.Arg1783=) c.1514G= n.749G= n.820G= c.5420G= (p.Arg1807=) n.147G= c.4472G= (p.Arg1491=) c.5648G= (p.Arg1883=) c.5537G= (p.Arg1846=) c.5459G= (p.Arg1820=) c.5111G= (p.Arg1704=) c.4736G= (p.Arg1579=) c.5543G= (p.Arg1848=) c.5645G= (p.Arg1882=) c.5588G= (p.Arg1863=) c.5564G= (p.Arg1855=) c.5519G= (p.Arg1840=) | |
3 | g.53801410G>T | CA353251825 | CACNA1D | c.5453G>T (p.Arg1818Met) n.2392G>T n.828G>T c.5393G>T (p.Arg1798Met) c.5348G>T (p.Arg1783Met) c.1514G>T n.749G>T n.820G>T c.5420G>T (p.Arg1807Met) n.147G>T c.4472G>T (p.Arg1491Met) c.5648G>T (p.Arg1883Met) c.5537G>T (p.Arg1846Met) c.5459G>T (p.Arg1820Met) c.5111G>T (p.Arg1704Met) c.4736G>T (p.Arg1579Met) c.5543G>T (p.Arg1848Met) c.5645G>T (p.Arg1882Met) c.5588G>T (p.Arg1863Met) c.5564G>T (p.Arg1855Met) c.5519G>T (p.Arg1840Met) | |
3 | g.53801411G>A | CA433804151 | CACNA1D | c.5454G>A (p.Arg1818=) n.2393G>A n.829G>A c.5394G>A (p.Arg1798=) c.5349G>A (p.Arg1783=) c.1515G>A n.750G>A n.821G>A c.5421G>A (p.Arg1807=) n.148G>A c.4473G>A (p.Arg1491=) c.5649G>A (p.Arg1883=) c.5538G>A (p.Arg1846=) c.5460G>A (p.Arg1820=) c.5112G>A (p.Arg1704=) c.4737G>A (p.Arg1579=) c.5544G>A (p.Arg1848=) c.5646G>A (p.Arg1882=) c.5589G>A (p.Arg1863=) c.5565G>A (p.Arg1855=) c.5520G>A (p.Arg1840=) | |
3 | g.53801411G>C | CA353251829 | CACNA1D | c.5454G>C (p.Arg1818Ser) n.2393G>C n.829G>C c.5394G>C (p.Arg1798Ser) c.5349G>C (p.Arg1783Ser) c.1515G>C n.750G>C n.821G>C c.5421G>C (p.Arg1807Ser) n.148G>C c.4473G>C (p.Arg1491Ser) c.5649G>C (p.Arg1883Ser) c.5538G>C (p.Arg1846Ser) c.5460G>C (p.Arg1820Ser) c.5112G>C (p.Arg1704Ser) c.4737G>C (p.Arg1579Ser) c.5544G>C (p.Arg1848Ser) c.5646G>C (p.Arg1882Ser) c.5589G>C (p.Arg1863Ser) c.5565G>C (p.Arg1855Ser) c.5520G>C (p.Arg1840Ser) | |
3 | g.53801411G>T | CA353251827 | CACNA1D | c.5454G>T (p.Arg1818Ser) n.2393G>T n.829G>T c.5394G>T (p.Arg1798Ser) c.5349G>T (p.Arg1783Ser) c.1515G>T n.750G>T n.821G>T c.5421G>T (p.Arg1807Ser) n.148G>T c.4473G>T (p.Arg1491Ser) c.5649G>T (p.Arg1883Ser) c.5538G>T (p.Arg1846Ser) c.5460G>T (p.Arg1820Ser) c.5112G>T (p.Arg1704Ser) c.4737G>T (p.Arg1579Ser) c.5544G>T (p.Arg1848Ser) c.5646G>T (p.Arg1882Ser) c.5589G>T (p.Arg1863Ser) c.5565G>T (p.Arg1855Ser) c.5520G>T (p.Arg1840Ser) | |
3 | g.53801412T>A | CA353251830 | CACNA1D | c.5455T>A (p.Ser1819Thr) n.2394T>A n.830T>A c.5395T>A (p.Ser1799Thr) c.5350T>A (p.Ser1784Thr) c.1516T>A n.751T>A n.822T>A c.5422T>A (p.Ser1808Thr) n.149T>A c.4474T>A (p.Ser1492Thr) c.5650T>A (p.Ser1884Thr) c.5539T>A (p.Ser1847Thr) c.5461T>A (p.Ser1821Thr) c.5113T>A (p.Ser1705Thr) c.4738T>A (p.Ser1580Thr) c.5545T>A (p.Ser1849Thr) c.5647T>A (p.Ser1883Thr) c.5590T>A (p.Ser1864Thr) c.5566T>A (p.Ser1856Thr) c.5521T>A (p.Ser1841Thr) | |
3 | g.53801412T>C | CA353251832 | CACNA1D | c.5455T>C (p.Ser1819Pro) n.2394T>C n.830T>C c.5395T>C (p.Ser1799Pro) c.5350T>C (p.Ser1784Pro) c.1516T>C n.751T>C n.822T>C c.5422T>C (p.Ser1808Pro) n.149T>C c.4474T>C (p.Ser1492Pro) c.5650T>C (p.Ser1884Pro) c.5539T>C (p.Ser1847Pro) c.5461T>C (p.Ser1821Pro) c.5113T>C (p.Ser1705Pro) c.4738T>C (p.Ser1580Pro) c.5545T>C (p.Ser1849Pro) c.5647T>C (p.Ser1883Pro) c.5590T>C (p.Ser1864Pro) c.5566T>C (p.Ser1856Pro) c.5521T>C (p.Ser1841Pro) | |
3 | g.53801412T>G | CA353251833 | CACNA1D | c.5455T>G (p.Ser1819Ala) n.2394T>G n.830T>G c.5395T>G (p.Ser1799Ala) c.5350T>G (p.Ser1784Ala) c.1516T>G n.751T>G n.822T>G c.5422T>G (p.Ser1808Ala) n.149T>G c.4474T>G (p.Ser1492Ala) c.5650T>G (p.Ser1884Ala) c.5539T>G (p.Ser1847Ala) c.5461T>G (p.Ser1821Ala) c.5113T>G (p.Ser1705Ala) c.4738T>G (p.Ser1580Ala) c.5545T>G (p.Ser1849Ala) c.5647T>G (p.Ser1883Ala) c.5590T>G (p.Ser1864Ala) c.5566T>G (p.Ser1856Ala) c.5521T>G (p.Ser1841Ala) | |
3 | g.53801413C>A | CA74859999 | CACNA1D | c.5456C>A (p.Ser1819Tyr) n.2395C>A n.831C>A c.5396C>A (p.Ser1799Tyr) c.5351C>A (p.Ser1784Tyr) c.1517C>A n.752C>A n.823C>A c.5423C>A (p.Ser1808Tyr) n.150C>A c.4475C>A (p.Ser1492Tyr) c.5651C>A (p.Ser1884Tyr) c.5540C>A (p.Ser1847Tyr) c.5462C>A (p.Ser1821Tyr) c.5114C>A (p.Ser1705Tyr) c.4739C>A (p.Ser1580Tyr) c.5546C>A (p.Ser1849Tyr) c.5648C>A (p.Ser1883Tyr) c.5591C>A (p.Ser1864Tyr) c.5567C>A (p.Ser1856Tyr) c.5522C>A (p.Ser1841Tyr) | dbSNP gnomAD v4 |
3 | g.53801413C= | CA1365484233 | CACNA1D | c.5456C= (p.Ser1819=) n.2395C= n.831C= c.5396C= (p.Ser1799=) c.5351C= (p.Ser1784=) c.1517C= n.752C= n.823C= c.5423C= (p.Ser1808=) n.150C= c.4475C= (p.Ser1492=) c.5651C= (p.Ser1884=) c.5540C= (p.Ser1847=) c.5462C= (p.Ser1821=) c.5114C= (p.Ser1705=) c.4739C= (p.Ser1580=) c.5546C= (p.Ser1849=) c.5648C= (p.Ser1883=) c.5591C= (p.Ser1864=) c.5567C= (p.Ser1856=) c.5522C= (p.Ser1841=) | |
3 | g.53801413C>G | CA353251839 | CACNA1D | c.5456C>G (p.Ser1819Cys) n.2395C>G n.831C>G c.5396C>G (p.Ser1799Cys) c.5351C>G (p.Ser1784Cys) c.1517C>G n.752C>G n.823C>G c.5423C>G (p.Ser1808Cys) n.150C>G c.4475C>G (p.Ser1492Cys) c.5651C>G (p.Ser1884Cys) c.5540C>G (p.Ser1847Cys) c.5462C>G (p.Ser1821Cys) c.5114C>G (p.Ser1705Cys) c.4739C>G (p.Ser1580Cys) c.5546C>G (p.Ser1849Cys) c.5648C>G (p.Ser1883Cys) c.5591C>G (p.Ser1864Cys) c.5567C>G (p.Ser1856Cys) c.5522C>G (p.Ser1841Cys) | COSMIC |
3 | g.53801413C>T | CA2455111 | CACNA1D | c.5456C>T (p.Ser1819Phe) n.2395C>T n.831C>T c.5396C>T (p.Ser1799Phe) c.5351C>T (p.Ser1784Phe) c.1517C>T n.752C>T n.823C>T c.5423C>T (p.Ser1808Phe) n.150C>T c.4475C>T (p.Ser1492Phe) c.5651C>T (p.Ser1884Phe) c.5540C>T (p.Ser1847Phe) c.5462C>T (p.Ser1821Phe) c.5114C>T (p.Ser1705Phe) c.4739C>T (p.Ser1580Phe) c.5546C>T (p.Ser1849Phe) c.5648C>T (p.Ser1883Phe) c.5591C>T (p.Ser1864Phe) c.5567C>T (p.Ser1856Phe) c.5522C>T (p.Ser1841Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.53801414C>A | CA433804152 | CACNA1D | c.5457C>A (p.Ser1819=) n.2396C>A n.832C>A c.5397C>A (p.Ser1799=) c.5352C>A (p.Ser1784=) c.1518C>A n.753C>A n.824C>A c.5424C>A (p.Ser1808=) n.151C>A c.4476C>A (p.Ser1492=) c.5652C>A (p.Ser1884=) c.5541C>A (p.Ser1847=) c.5463C>A (p.Ser1821=) c.5115C>A (p.Ser1705=) c.4740C>A (p.Ser1580=) c.5547C>A (p.Ser1849=) c.5649C>A (p.Ser1883=) c.5592C>A (p.Ser1864=) c.5568C>A (p.Ser1856=) c.5523C>A (p.Ser1841=) | |
3 | g.53801414C>G | CA433804154 | CACNA1D | c.5457C>G (p.Ser1819=) n.2396C>G n.832C>G c.5397C>G (p.Ser1799=) c.5352C>G (p.Ser1784=) c.1518C>G n.753C>G n.824C>G c.5424C>G (p.Ser1808=) n.151C>G c.4476C>G (p.Ser1492=) c.5652C>G (p.Ser1884=) c.5541C>G (p.Ser1847=) c.5463C>G (p.Ser1821=) c.5115C>G (p.Ser1705=) c.4740C>G (p.Ser1580=) c.5547C>G (p.Ser1849=) c.5649C>G (p.Ser1883=) c.5592C>G (p.Ser1864=) c.5568C>G (p.Ser1856=) c.5523C>G (p.Ser1841=) | |
3 | g.53801414C>T | CA433804153 | CACNA1D | c.5457C>T (p.Ser1819=) n.2396C>T n.832C>T c.5397C>T (p.Ser1799=) c.5352C>T (p.Ser1784=) c.1518C>T n.753C>T n.824C>T c.5424C>T (p.Ser1808=) n.151C>T c.4476C>T (p.Ser1492=) c.5652C>T (p.Ser1884=) c.5541C>T (p.Ser1847=) c.5463C>T (p.Ser1821=) c.5115C>T (p.Ser1705=) c.4740C>T (p.Ser1580=) c.5547C>T (p.Ser1849=) c.5649C>T (p.Ser1883=) c.5592C>T (p.Ser1864=) c.5568C>T (p.Ser1856=) c.5523C>T (p.Ser1841=) | gnomAD v4 |
3 | g.53801415A= | CA1365484234 | CACNA1D | c.5458A= (p.Ser1820=) n.2397A= n.833A= c.5398A= (p.Ser1800=) c.5353A= (p.Ser1785=) c.1519A= n.754A= n.825A= c.5425A= (p.Ser1809=) n.152A= c.4477A= (p.Ser1493=) c.5653A= (p.Ser1885=) c.5542A= (p.Ser1848=) c.5464A= (p.Ser1822=) c.5116A= (p.Ser1706=) c.4741A= (p.Ser1581=) c.5548A= (p.Ser1850=) c.5650A= (p.Ser1884=) c.5593A= (p.Ser1865=) c.5569A= (p.Ser1857=) c.5524A= (p.Ser1842=) | |
3 | g.53801415A>C | CA353251861 | CACNA1D | c.5458A>C (p.Ser1820Arg) n.2397A>C n.833A>C c.5398A>C (p.Ser1800Arg) c.5353A>C (p.Ser1785Arg) c.1519A>C n.754A>C n.825A>C c.5425A>C (p.Ser1809Arg) n.152A>C c.4477A>C (p.Ser1493Arg) c.5653A>C (p.Ser1885Arg) c.5542A>C (p.Ser1848Arg) c.5464A>C (p.Ser1822Arg) c.5116A>C (p.Ser1706Arg) c.4741A>C (p.Ser1581Arg) c.5548A>C (p.Ser1850Arg) c.5650A>C (p.Ser1884Arg) c.5593A>C (p.Ser1865Arg) c.5569A>C (p.Ser1857Arg) c.5524A>C (p.Ser1842Arg) | |
3 | g.53801415A>G | CA353251846 | CACNA1D | c.5458A>G (p.Ser1820Gly) n.2397A>G n.833A>G c.5398A>G (p.Ser1800Gly) c.5353A>G (p.Ser1785Gly) c.1519A>G n.754A>G n.825A>G c.5425A>G (p.Ser1809Gly) n.152A>G c.4477A>G (p.Ser1493Gly) c.5653A>G (p.Ser1885Gly) c.5542A>G (p.Ser1848Gly) c.5464A>G (p.Ser1822Gly) c.5116A>G (p.Ser1706Gly) c.4741A>G (p.Ser1581Gly) c.5548A>G (p.Ser1850Gly) c.5650A>G (p.Ser1884Gly) c.5593A>G (p.Ser1865Gly) c.5569A>G (p.Ser1857Gly) c.5524A>G (p.Ser1842Gly) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.53801415A>T | CA353251858 | CACNA1D | c.5458A>T (p.Ser1820Cys) n.2397A>T n.833A>T c.5398A>T (p.Ser1800Cys) c.5353A>T (p.Ser1785Cys) c.1519A>T n.754A>T n.825A>T c.5425A>T (p.Ser1809Cys) n.152A>T c.4477A>T (p.Ser1493Cys) c.5653A>T (p.Ser1885Cys) c.5542A>T (p.Ser1848Cys) c.5464A>T (p.Ser1822Cys) c.5116A>T (p.Ser1706Cys) c.4741A>T (p.Ser1581Cys) c.5548A>T (p.Ser1850Cys) c.5650A>T (p.Ser1884Cys) c.5593A>T (p.Ser1865Cys) c.5569A>T (p.Ser1857Cys) c.5524A>T (p.Ser1842Cys) | ClinVar |
3 | g.53801416G>A | CA353251864 | CACNA1D | c.5459G>A (p.Ser1820Asn) n.2398G>A n.834G>A c.5399G>A (p.Ser1800Asn) c.5354G>A (p.Ser1785Asn) c.1520G>A n.755G>A n.826G>A c.5426G>A (p.Ser1809Asn) n.153G>A c.4478G>A (p.Ser1493Asn) c.5654G>A (p.Ser1885Asn) c.5543G>A (p.Ser1848Asn) c.5465G>A (p.Ser1822Asn) c.5117G>A (p.Ser1706Asn) c.4742G>A (p.Ser1581Asn) c.5549G>A (p.Ser1850Asn) c.5651G>A (p.Ser1884Asn) c.5594G>A (p.Ser1865Asn) c.5570G>A (p.Ser1857Asn) c.5525G>A (p.Ser1842Asn) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.53801416G>C | CA353251865 | CACNA1D | c.5459G>C (p.Ser1820Thr) n.2398G>C n.834G>C c.5399G>C (p.Ser1800Thr) c.5354G>C (p.Ser1785Thr) c.1520G>C n.755G>C n.826G>C c.5426G>C (p.Ser1809Thr) n.153G>C c.4478G>C (p.Ser1493Thr) c.5654G>C (p.Ser1885Thr) c.5543G>C (p.Ser1848Thr) c.5465G>C (p.Ser1822Thr) c.5117G>C (p.Ser1706Thr) c.4742G>C (p.Ser1581Thr) c.5549G>C (p.Ser1850Thr) c.5651G>C (p.Ser1884Thr) c.5594G>C (p.Ser1865Thr) c.5570G>C (p.Ser1857Thr) c.5525G>C (p.Ser1842Thr) | COSMIC COSMIC |
3 | g.53801416G= | CA1365484235 | CACNA1D | c.5459G= (p.Ser1820=) n.2398G= n.834G= c.5399G= (p.Ser1800=) c.5354G= (p.Ser1785=) c.1520G= n.755G= n.826G= c.5426G= (p.Ser1809=) n.153G= c.4478G= (p.Ser1493=) c.5654G= (p.Ser1885=) c.5543G= (p.Ser1848=) c.5465G= (p.Ser1822=) c.5117G= (p.Ser1706=) c.4742G= (p.Ser1581=) c.5549G= (p.Ser1850=) c.5651G= (p.Ser1884=) c.5594G= (p.Ser1865=) c.5570G= (p.Ser1857=) c.5525G= (p.Ser1842=) | |
3 | g.53801416G>T | CA353251867 | CACNA1D | c.5459G>T (p.Ser1820Ile) n.2398G>T n.834G>T c.5399G>T (p.Ser1800Ile) c.5354G>T (p.Ser1785Ile) c.1520G>T n.755G>T n.826G>T c.5426G>T (p.Ser1809Ile) n.153G>T c.4478G>T (p.Ser1493Ile) c.5654G>T (p.Ser1885Ile) c.5543G>T (p.Ser1848Ile) c.5465G>T (p.Ser1822Ile) c.5117G>T (p.Ser1706Ile) c.4742G>T (p.Ser1581Ile) c.5549G>T (p.Ser1850Ile) c.5651G>T (p.Ser1884Ile) c.5594G>T (p.Ser1865Ile) c.5570G>T (p.Ser1857Ile) c.5525G>T (p.Ser1842Ile) | |
3 | g.53801417T>A | CA353251869 | CACNA1D | c.5460T>A (p.Ser1820Arg) n.2399T>A n.835T>A c.5400T>A (p.Ser1800Arg) c.5355T>A (p.Ser1785Arg) c.1521T>A n.756T>A n.827T>A c.5427T>A (p.Ser1809Arg) n.154T>A c.4479T>A (p.Ser1493Arg) c.5655T>A (p.Ser1885Arg) c.5544T>A (p.Ser1848Arg) c.5466T>A (p.Ser1822Arg) c.5118T>A (p.Ser1706Arg) c.4743T>A (p.Ser1581Arg) c.5550T>A (p.Ser1850Arg) c.5652T>A (p.Ser1884Arg) c.5595T>A (p.Ser1865Arg) c.5571T>A (p.Ser1857Arg) c.5526T>A (p.Ser1842Arg) | |
3 | g.53801417T>C | CA433804156 | CACNA1D | c.5460T>C (p.Ser1820=) n.2399T>C n.835T>C c.5400T>C (p.Ser1800=) c.5355T>C (p.Ser1785=) c.1521T>C n.756T>C n.827T>C c.5427T>C (p.Ser1809=) n.154T>C c.4479T>C (p.Ser1493=) c.5655T>C (p.Ser1885=) c.5544T>C (p.Ser1848=) c.5466T>C (p.Ser1822=) c.5118T>C (p.Ser1706=) c.4743T>C (p.Ser1581=) c.5550T>C (p.Ser1850=) c.5652T>C (p.Ser1884=) c.5595T>C (p.Ser1865=) c.5571T>C (p.Ser1857=) c.5526T>C (p.Ser1842=) | |
3 | g.53801417T>G | CA353251872 | CACNA1D | c.5460T>G (p.Ser1820Arg) n.2399T>G n.835T>G c.5400T>G (p.Ser1800Arg) c.5355T>G (p.Ser1785Arg) c.1521T>G n.756T>G n.827T>G c.5427T>G (p.Ser1809Arg) n.154T>G c.4479T>G (p.Ser1493Arg) c.5655T>G (p.Ser1885Arg) c.5544T>G (p.Ser1848Arg) c.5466T>G (p.Ser1822Arg) c.5118T>G (p.Ser1706Arg) c.4743T>G (p.Ser1581Arg) c.5550T>G (p.Ser1850Arg) c.5652T>G (p.Ser1884Arg) c.5595T>G (p.Ser1865Arg) c.5571T>G (p.Ser1857Arg) c.5526T>G (p.Ser1842Arg) | |
3 | g.53801418G>A | CA353251881 | CACNA1D | c.5461G>A (p.Val1821Met) n.2400G>A n.836G>A c.5401G>A (p.Val1801Met) c.5356G>A (p.Val1786Met) c.1522G>A n.757G>A n.828G>A c.5428G>A (p.Val1810Met) n.155G>A c.4480G>A (p.Val1494Met) c.5656G>A (p.Val1886Met) c.5545G>A (p.Val1849Met) c.5467G>A (p.Val1823Met) c.5119G>A (p.Val1707Met) c.4744G>A (p.Val1582Met) c.5551G>A (p.Val1851Met) c.5653G>A (p.Val1885Met) c.5596G>A (p.Val1866Met) c.5572G>A (p.Val1858Met) c.5527G>A (p.Val1843Met) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.53801418G>C | CA353251874 | CACNA1D | c.5461G>C (p.Val1821Leu) n.2400G>C n.836G>C c.5401G>C (p.Val1801Leu) c.5356G>C (p.Val1786Leu) c.1522G>C n.757G>C n.828G>C c.5428G>C (p.Val1810Leu) n.155G>C c.4480G>C (p.Val1494Leu) c.5656G>C (p.Val1886Leu) c.5545G>C (p.Val1849Leu) c.5467G>C (p.Val1823Leu) c.5119G>C (p.Val1707Leu) c.4744G>C (p.Val1582Leu) c.5551G>C (p.Val1851Leu) c.5653G>C (p.Val1885Leu) c.5596G>C (p.Val1866Leu) c.5572G>C (p.Val1858Leu) c.5527G>C (p.Val1843Leu) | |
3 | g.53801418G= | CA1365484236 | CACNA1D | c.5461G= (p.Val1821=) n.2400G= n.836G= c.5401G= (p.Val1801=) c.5356G= (p.Val1786=) c.1522G= n.757G= n.828G= c.5428G= (p.Val1810=) n.155G= c.4480G= (p.Val1494=) c.5656G= (p.Val1886=) c.5545G= (p.Val1849=) c.5467G= (p.Val1823=) c.5119G= (p.Val1707=) c.4744G= (p.Val1582=) c.5551G= (p.Val1851=) c.5653G= (p.Val1885=) c.5596G= (p.Val1866=) c.5572G= (p.Val1858=) c.5527G= (p.Val1843=) | |
3 | g.53801418G>T | CA353251878 | CACNA1D | c.5461G>T (p.Val1821Leu) n.2400G>T n.836G>T c.5401G>T (p.Val1801Leu) c.5356G>T (p.Val1786Leu) c.1522G>T n.757G>T n.828G>T c.5428G>T (p.Val1810Leu) n.155G>T c.4480G>T (p.Val1494Leu) c.5656G>T (p.Val1886Leu) c.5545G>T (p.Val1849Leu) c.5467G>T (p.Val1823Leu) c.5119G>T (p.Val1707Leu) c.4744G>T (p.Val1582Leu) c.5551G>T (p.Val1851Leu) c.5653G>T (p.Val1885Leu) c.5596G>T (p.Val1866Leu) c.5572G>T (p.Val1858Leu) c.5527G>T (p.Val1843Leu) | |
3 | g.53801419T>A | CA353251894 | CACNA1D | c.5462T>A (p.Val1821Glu) n.2401T>A n.837T>A c.5402T>A (p.Val1801Glu) c.5357T>A (p.Val1786Glu) c.1523T>A n.758T>A n.829T>A c.5429T>A (p.Val1810Glu) n.156T>A c.4481T>A (p.Val1494Glu) c.5657T>A (p.Val1886Glu) c.5546T>A (p.Val1849Glu) c.5468T>A (p.Val1823Glu) c.5120T>A (p.Val1707Glu) c.4745T>A (p.Val1582Glu) c.5552T>A (p.Val1851Glu) c.5654T>A (p.Val1885Glu) c.5597T>A (p.Val1866Glu) c.5573T>A (p.Val1858Glu) c.5528T>A (p.Val1843Glu) | |
3 | g.53801419T>C | CA353251897 | CACNA1D | c.5462T>C (p.Val1821Ala) n.2401T>C n.837T>C c.5402T>C (p.Val1801Ala) c.5357T>C (p.Val1786Ala) c.1523T>C n.758T>C n.829T>C c.5429T>C (p.Val1810Ala) n.156T>C c.4481T>C (p.Val1494Ala) c.5657T>C (p.Val1886Ala) c.5546T>C (p.Val1849Ala) c.5468T>C (p.Val1823Ala) c.5120T>C (p.Val1707Ala) c.4745T>C (p.Val1582Ala) c.5552T>C (p.Val1851Ala) c.5654T>C (p.Val1885Ala) c.5597T>C (p.Val1866Ala) c.5573T>C (p.Val1858Ala) c.5528T>C (p.Val1843Ala) | |
3 | g.53801419T>G | CA2455112 | CACNA1D | c.5462T>G (p.Val1821Gly) n.2401T>G n.837T>G c.5402T>G (p.Val1801Gly) c.5357T>G (p.Val1786Gly) c.1523T>G n.758T>G n.829T>G c.5429T>G (p.Val1810Gly) n.156T>G c.4481T>G (p.Val1494Gly) c.5657T>G (p.Val1886Gly) c.5546T>G (p.Val1849Gly) c.5468T>G (p.Val1823Gly) c.5120T>G (p.Val1707Gly) c.4745T>G (p.Val1582Gly) c.5552T>G (p.Val1851Gly) c.5654T>G (p.Val1885Gly) c.5597T>G (p.Val1866Gly) c.5573T>G (p.Val1858Gly) c.5528T>G (p.Val1843Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.53801419T= | CA1365484237 | CACNA1D | c.5462T= (p.Val1821=) n.2401T= n.837T= c.5402T= (p.Val1801=) c.5357T= (p.Val1786=) c.1523T= n.758T= n.829T= c.5429T= (p.Val1810=) n.156T= c.4481T= (p.Val1494=) c.5657T= (p.Val1886=) c.5546T= (p.Val1849=) c.5468T= (p.Val1823=) c.5120T= (p.Val1707=) c.4745T= (p.Val1582=) c.5552T= (p.Val1851=) c.5654T= (p.Val1885=) c.5597T= (p.Val1866=) c.5573T= (p.Val1858=) c.5528T= (p.Val1843=) | |
3 | g.53801420G>A | CA433804159 | CACNA1D | c.5463G>A (p.Val1821=) n.2402G>A n.838G>A c.5403G>A (p.Val1801=) c.5358G>A (p.Val1786=) c.1524G>A n.759G>A n.830G>A c.5430G>A (p.Val1810=) n.157G>A c.4482G>A (p.Val1494=) c.5658G>A (p.Val1886=) c.5547G>A (p.Val1849=) c.5469G>A (p.Val1823=) c.5121G>A (p.Val1707=) c.4746G>A (p.Val1582=) c.5553G>A (p.Val1851=) c.5655G>A (p.Val1885=) c.5598G>A (p.Val1866=) c.5574G>A (p.Val1858=) c.5529G>A (p.Val1843=) | |
3 | g.53801420G>C | CA433804160 | CACNA1D | c.5463G>C (p.Val1821=) n.2402G>C n.838G>C c.5403G>C (p.Val1801=) c.5358G>C (p.Val1786=) c.1524G>C n.759G>C n.830G>C c.5430G>C (p.Val1810=) n.157G>C c.4482G>C (p.Val1494=) c.5658G>C (p.Val1886=) c.5547G>C (p.Val1849=) c.5469G>C (p.Val1823=) c.5121G>C (p.Val1707=) c.4746G>C (p.Val1582=) c.5553G>C (p.Val1851=) c.5655G>C (p.Val1885=) c.5598G>C (p.Val1866=) c.5574G>C (p.Val1858=) c.5529G>C (p.Val1843=) | gnomAD v4 |
3 | g.53801420G>T | CA433804161 | CACNA1D | c.5463G>T (p.Val1821=) n.2402G>T n.838G>T c.5403G>T (p.Val1801=) c.5358G>T (p.Val1786=) c.1524G>T n.759G>T n.830G>T c.5430G>T (p.Val1810=) n.157G>T c.4482G>T (p.Val1494=) c.5658G>T (p.Val1886=) c.5547G>T (p.Val1849=) c.5469G>T (p.Val1823=) c.5121G>T (p.Val1707=) c.4746G>T (p.Val1582=) c.5553G>T (p.Val1851=) c.5655G>T (p.Val1885=) c.5598G>T (p.Val1866=) c.5574G>T (p.Val1858=) c.5529G>T (p.Val1843=) | |
3 | g.53801421A>C | CA353251913 | CACNA1D | c.5464A>C (p.Lys1822Gln) n.2403A>C n.839A>C c.5404A>C (p.Lys1802Gln) c.5359A>C (p.Lys1787Gln) c.1525A>C n.760A>C n.831A>C c.5431A>C (p.Lys1811Gln) n.158A>C c.4483A>C (p.Lys1495Gln) c.5659A>C (p.Lys1887Gln) c.5548A>C (p.Lys1850Gln) c.5470A>C (p.Lys1824Gln) c.5122A>C (p.Lys1708Gln) c.4747A>C (p.Lys1583Gln) c.5554A>C (p.Lys1852Gln) c.5656A>C (p.Lys1886Gln) c.5599A>C (p.Lys1867Gln) c.5575A>C (p.Lys1859Gln) c.5530A>C (p.Lys1844Gln) | |
3 | g.53801421A>G | CA353251916 | CACNA1D | c.5464A>G (p.Lys1822Glu) n.2403A>G n.839A>G c.5404A>G (p.Lys1802Glu) c.5359A>G (p.Lys1787Glu) c.1525A>G n.760A>G n.831A>G c.5431A>G (p.Lys1811Glu) n.158A>G c.4483A>G (p.Lys1495Glu) c.5659A>G (p.Lys1887Glu) c.5548A>G (p.Lys1850Glu) c.5470A>G (p.Lys1824Glu) c.5122A>G (p.Lys1708Glu) c.4747A>G (p.Lys1583Glu) c.5554A>G (p.Lys1852Glu) c.5656A>G (p.Lys1886Glu) c.5599A>G (p.Lys1867Glu) c.5575A>G (p.Lys1859Glu) c.5530A>G (p.Lys1844Glu) | gnomAD v4 |
3 | g.53801421A>T | CA353251919 | CACNA1D | c.5464A>T (p.Lys1822Ter) n.2403A>T n.839A>T c.5404A>T (p.Lys1802Ter) c.5359A>T (p.Lys1787Ter) c.1525A>T n.760A>T n.831A>T c.5431A>T (p.Lys1811Ter) n.158A>T c.4483A>T (p.Lys1495Ter) c.5659A>T (p.Lys1887Ter) c.5548A>T (p.Lys1850Ter) c.5470A>T (p.Lys1824Ter) c.5122A>T (p.Lys1708Ter) c.4747A>T (p.Lys1583Ter) c.5554A>T (p.Lys1852Ter) c.5656A>T (p.Lys1886Ter) c.5599A>T (p.Lys1867Ter) c.5575A>T (p.Lys1859Ter) c.5530A>T (p.Lys1844Ter) | |
3 | g.53801424dup | CA2577794095 | CACNA1D | c.5467dup (p.Arg1823LysfsTer6) n.2406dup n.842dup c.5407dup (p.Arg1803LysfsTer6) c.5362dup (p.Arg1788LysfsTer7) c.1528dup c.5362dup (p.Arg1788LysfsTer6) n.763dup n.834dup c.5434dup (p.Arg1812LysfsTer6) n.161dup c.4486dup (p.Arg1496LysfsTer6) c.5662dup (p.Arg1888LysfsTer6) c.5551dup (p.Arg1851LysfsTer6) c.5473dup (p.Arg1825LysfsTer6) c.5125dup (p.Arg1709LysfsTer6) c.4750dup (p.Arg1584LysfsTer6) c.5557dup (p.Arg1853LysfsTer6) c.5659dup (p.Arg1887LysfsTer6) c.5662dup (p.Arg1888LysfsTer7) c.5602dup (p.Arg1868LysfsTer6) c.5578dup (p.Arg1860LysfsTer6) c.5533dup (p.Arg1845LysfsTer6) | |
3 | g.53801422A>C | CA353251930 | CACNA1D | c.5465A>C (p.Lys1822Thr) n.2404A>C n.840A>C c.5405A>C (p.Lys1802Thr) c.5360A>C (p.Lys1787Thr) c.1526A>C n.761A>C n.832A>C c.5432A>C (p.Lys1811Thr) n.159A>C c.4484A>C (p.Lys1495Thr) c.5660A>C (p.Lys1887Thr) c.5549A>C (p.Lys1850Thr) c.5471A>C (p.Lys1824Thr) c.5123A>C (p.Lys1708Thr) c.4748A>C (p.Lys1583Thr) c.5555A>C (p.Lys1852Thr) c.5657A>C (p.Lys1886Thr) c.5600A>C (p.Lys1867Thr) c.5576A>C (p.Lys1859Thr) c.5531A>C (p.Lys1844Thr) | |
3 | g.53801422A>G | CA353251931 | CACNA1D | c.5465A>G (p.Lys1822Arg) n.2404A>G n.840A>G c.5405A>G (p.Lys1802Arg) c.5360A>G (p.Lys1787Arg) c.1526A>G n.761A>G n.832A>G c.5432A>G (p.Lys1811Arg) n.159A>G c.4484A>G (p.Lys1495Arg) c.5660A>G (p.Lys1887Arg) c.5549A>G (p.Lys1850Arg) c.5471A>G (p.Lys1824Arg) c.5123A>G (p.Lys1708Arg) c.4748A>G (p.Lys1583Arg) c.5555A>G (p.Lys1852Arg) c.5657A>G (p.Lys1886Arg) c.5600A>G (p.Lys1867Arg) c.5576A>G (p.Lys1859Arg) c.5531A>G (p.Lys1844Arg) | |
3 | g.53801422A>T | CA353251932 | CACNA1D | c.5465A>T (p.Lys1822Ile) n.2404A>T n.840A>T c.5405A>T (p.Lys1802Ile) c.5360A>T (p.Lys1787Ile) c.1526A>T n.761A>T n.832A>T c.5432A>T (p.Lys1811Ile) n.159A>T c.4484A>T (p.Lys1495Ile) c.5660A>T (p.Lys1887Ile) c.5549A>T (p.Lys1850Ile) c.5471A>T (p.Lys1824Ile) c.5123A>T (p.Lys1708Ile) c.4748A>T (p.Lys1583Ile) c.5555A>T (p.Lys1852Ile) c.5657A>T (p.Lys1886Ile) c.5600A>T (p.Lys1867Ile) c.5576A>T (p.Lys1859Ile) c.5531A>T (p.Lys1844Ile) | |
3 | g.53801423A>C | CA353251933 | CACNA1D | c.5466A>C (p.Lys1822Asn) n.2405A>C n.841A>C c.5406A>C (p.Lys1802Asn) c.5361A>C (p.Lys1787Asn) c.1527A>C n.762A>C n.833A>C c.5433A>C (p.Lys1811Asn) n.160A>C c.4485A>C (p.Lys1495Asn) c.5661A>C (p.Lys1887Asn) c.5550A>C (p.Lys1850Asn) c.5472A>C (p.Lys1824Asn) c.5124A>C (p.Lys1708Asn) c.4749A>C (p.Lys1583Asn) c.5556A>C (p.Lys1852Asn) c.5658A>C (p.Lys1886Asn) c.5601A>C (p.Lys1867Asn) c.5577A>C (p.Lys1859Asn) c.5532A>C (p.Lys1844Asn) | |
3 | g.53801423A>G | CA433804163 | CACNA1D | c.5466A>G (p.Lys1822=) n.2405A>G n.841A>G c.5406A>G (p.Lys1802=) c.5361A>G (p.Lys1787=) c.1527A>G n.762A>G n.833A>G c.5433A>G (p.Lys1811=) n.160A>G c.4485A>G (p.Lys1495=) c.5661A>G (p.Lys1887=) c.5550A>G (p.Lys1850=) c.5472A>G (p.Lys1824=) c.5124A>G (p.Lys1708=) c.4749A>G (p.Lys1583=) c.5556A>G (p.Lys1852=) c.5658A>G (p.Lys1886=) c.5601A>G (p.Lys1867=) c.5577A>G (p.Lys1859=) c.5532A>G (p.Lys1844=) | |
3 | g.53801423A>T | CA353251935 | CACNA1D | c.5466A>T (p.Lys1822Asn) n.2405A>T n.841A>T c.5406A>T (p.Lys1802Asn) c.5361A>T (p.Lys1787Asn) c.1527A>T n.762A>T n.833A>T c.5433A>T (p.Lys1811Asn) n.160A>T c.4485A>T (p.Lys1495Asn) c.5661A>T (p.Lys1887Asn) c.5550A>T (p.Lys1850Asn) c.5472A>T (p.Lys1824Asn) c.5124A>T (p.Lys1708Asn) c.4749A>T (p.Lys1583Asn) c.5556A>T (p.Lys1852Asn) c.5658A>T (p.Lys1886Asn) c.5601A>T (p.Lys1867Asn) c.5577A>T (p.Lys1859Asn) c.5532A>T (p.Lys1844Asn) | |
3 | g.53801424A>C | CA433804164 | CACNA1D | c.5467A>C (p.Arg1823=) n.2406A>C n.842A>C c.5407A>C (p.Arg1803=) c.5362A>C (p.Arg1788=) c.1528A>C n.763A>C n.834A>C c.5434A>C (p.Arg1812=) n.161A>C c.4486A>C (p.Arg1496=) c.5662A>C (p.Arg1888=) c.5551A>C (p.Arg1851=) c.5473A>C (p.Arg1825=) c.5125A>C (p.Arg1709=) c.4750A>C (p.Arg1584=) c.5557A>C (p.Arg1853=) c.5659A>C (p.Arg1887=) c.5602A>C (p.Arg1868=) c.5578A>C (p.Arg1860=) c.5533A>C (p.Arg1845=) | |
3 | g.53801424A>G | CA353251940 | CACNA1D | c.5467A>G (p.Arg1823Gly) n.2406A>G n.842A>G c.5407A>G (p.Arg1803Gly) c.5362A>G (p.Arg1788Gly) c.1528A>G n.763A>G n.834A>G c.5434A>G (p.Arg1812Gly) n.161A>G c.4486A>G (p.Arg1496Gly) c.5662A>G (p.Arg1888Gly) c.5551A>G (p.Arg1851Gly) c.5473A>G (p.Arg1825Gly) c.5125A>G (p.Arg1709Gly) c.4750A>G (p.Arg1584Gly) c.5557A>G (p.Arg1853Gly) c.5659A>G (p.Arg1887Gly) c.5602A>G (p.Arg1868Gly) c.5578A>G (p.Arg1860Gly) c.5533A>G (p.Arg1845Gly) | |
3 | g.53801424A>T | CA353251942 | CACNA1D | c.5467A>T (p.Arg1823Ter) n.2406A>T n.842A>T c.5407A>T (p.Arg1803Ter) c.5362A>T (p.Arg1788Trp) c.1528A>T c.5362A>T (p.Arg1788Ter) n.763A>T n.834A>T c.5434A>T (p.Arg1812Ter) n.161A>T c.4486A>T (p.Arg1496Ter) c.5662A>T (p.Arg1888Ter) c.5551A>T (p.Arg1851Ter) c.5473A>T (p.Arg1825Ter) c.5125A>T (p.Arg1709Ter) c.4750A>T (p.Arg1584Ter) c.5557A>T (p.Arg1853Ter) c.5659A>T (p.Arg1887Ter) c.5662A>T (p.Arg1888Trp) c.5602A>T (p.Arg1868Ter) c.5578A>T (p.Arg1860Ter) c.5533A>T (p.Arg1845Ter) | |
3 | g.53801425G>A | CA353251944 | CACNA1D | c.5468G>A (p.Arg1823Lys) n.2407G>A n.843G>A c.5408G>A (p.Arg1803Lys) c.5363G>A (p.Arg1788Lys) c.1529G>A n.764G>A n.835G>A c.5435G>A (p.Arg1812Lys) n.162G>A c.4487G>A (p.Arg1496Lys) c.5663G>A (p.Arg1888Lys) c.5552G>A (p.Arg1851Lys) c.5474G>A (p.Arg1825Lys) c.5126G>A (p.Arg1709Lys) c.4751G>A (p.Arg1584Lys) c.5558G>A (p.Arg1853Lys) c.5660G>A (p.Arg1887Lys) c.5603G>A (p.Arg1868Lys) c.5579G>A (p.Arg1860Lys) c.5534G>A (p.Arg1845Lys) | |
3 | g.53801425G>C | CA353251952 | CACNA1D | c.5468G>C (p.Arg1823Thr) n.2407G>C n.843G>C c.5408G>C (p.Arg1803Thr) c.5363G>C (p.Arg1788Thr) c.1529G>C n.764G>C n.835G>C c.5435G>C (p.Arg1812Thr) n.162G>C c.4487G>C (p.Arg1496Thr) c.5663G>C (p.Arg1888Thr) c.5552G>C (p.Arg1851Thr) c.5474G>C (p.Arg1825Thr) c.5126G>C (p.Arg1709Thr) c.4751G>C (p.Arg1584Thr) c.5558G>C (p.Arg1853Thr) c.5660G>C (p.Arg1887Thr) c.5603G>C (p.Arg1868Thr) c.5579G>C (p.Arg1860Thr) c.5534G>C (p.Arg1845Thr) | ClinVar dbSNP |
3 | g.53801425G>T | CA353251951 | CACNA1D | c.5468G>T (p.Arg1823Ile) n.2407G>T n.843G>T c.5408G>T (p.Arg1803Ile) c.5363G>T (p.Arg1788Met) c.1529G>T c.5363G>T (p.Arg1788Ile) n.764G>T n.835G>T c.5435G>T (p.Arg1812Ile) n.162G>T c.4487G>T (p.Arg1496Ile) c.5663G>T (p.Arg1888Ile) c.5552G>T (p.Arg1851Ile) c.5474G>T (p.Arg1825Ile) c.5126G>T (p.Arg1709Ile) c.4751G>T (p.Arg1584Ile) c.5558G>T (p.Arg1853Ile) c.5660G>T (p.Arg1887Ile) c.5663G>T (p.Arg1888Met) c.5603G>T (p.Arg1868Ile) c.5579G>T (p.Arg1860Ile) c.5534G>T (p.Arg1845Ile) | |
3 | g.53801426G>A | CA353251955 | CACNA1D | c.5468+1G>A (n.5468+1G>A) n.2407+1G>A n.843+1G>A c.5408+1G>A (n.5408+1G>A) c.5363+1G>A (n.5363+1G>A) c.1529+1G>A n.764+1G>A n.835+1G>A c.5435+1G>A (n.5435+1G>A) n.162+1G>A c.4487+1G>A (n.4487+1G>A) c.5663+1G>A (n.5663+1G>A) c.5552+1G>A (n.5552+1G>A) c.5474+1G>A (n.5474+1G>A) c.5126+1G>A (n.5126+1G>A) c.4751+1G>A (n.4751+1G>A) c.5558+1G>A (n.5558+1G>A) c.5660+1G>A (n.5660+1G>A) c.5603+1G>A (n.5603+1G>A) c.5579+1G>A (n.5579+1G>A) c.5534+1G>A (n.5534+1G>A) | |
3 | g.53801426G>C | CA353251958 | CACNA1D | c.5468+1G>C (n.5468+1G>C) n.2407+1G>C n.843+1G>C c.5408+1G>C (n.5408+1G>C) c.5363+1G>C (n.5363+1G>C) c.1529+1G>C n.764+1G>C n.835+1G>C c.5435+1G>C (n.5435+1G>C) n.162+1G>C c.4487+1G>C (n.4487+1G>C) c.5663+1G>C (n.5663+1G>C) c.5552+1G>C (n.5552+1G>C) c.5474+1G>C (n.5474+1G>C) c.5126+1G>C (n.5126+1G>C) c.4751+1G>C (n.4751+1G>C) c.5558+1G>C (n.5558+1G>C) c.5660+1G>C (n.5660+1G>C) c.5603+1G>C (n.5603+1G>C) c.5579+1G>C (n.5579+1G>C) c.5534+1G>C (n.5534+1G>C) | |
3 | g.53801426G>T | CA353251961 | CACNA1D | c.5468+1G>T (n.5468+1G>T) n.2407+1G>T n.843+1G>T c.5408+1G>T (n.5408+1G>T) c.5363+1G>T (n.5363+1G>T) c.1529+1G>T n.764+1G>T n.835+1G>T c.5435+1G>T (n.5435+1G>T) n.162+1G>T c.4487+1G>T (n.4487+1G>T) c.5663+1G>T (n.5663+1G>T) c.5552+1G>T (n.5552+1G>T) c.5474+1G>T (n.5474+1G>T) c.5126+1G>T (n.5126+1G>T) c.4751+1G>T (n.4751+1G>T) c.5558+1G>T (n.5558+1G>T) c.5660+1G>T (n.5660+1G>T) c.5603+1G>T (n.5603+1G>T) c.5579+1G>T (n.5579+1G>T) c.5534+1G>T (n.5534+1G>T) | |
3 | g.53801427T>A | CA353251965 | CACNA1D | c.5468+2T>A (n.5468+2T>A) n.2407+2T>A n.843+2T>A c.5408+2T>A (n.5408+2T>A) c.5363+2T>A (n.5363+2T>A) c.1529+2T>A n.764+2T>A n.835+2T>A c.5435+2T>A (n.5435+2T>A) n.162+2T>A c.4487+2T>A (n.4487+2T>A) c.5663+2T>A (n.5663+2T>A) c.5552+2T>A (n.5552+2T>A) c.5474+2T>A (n.5474+2T>A) c.5126+2T>A (n.5126+2T>A) c.4751+2T>A (n.4751+2T>A) c.5558+2T>A (n.5558+2T>A) c.5660+2T>A (n.5660+2T>A) c.5603+2T>A (n.5603+2T>A) c.5579+2T>A (n.5579+2T>A) c.5534+2T>A (n.5534+2T>A) | |
3 | g.53801427T>C | CA353251968 | CACNA1D | c.5468+2T>C (n.5468+2T>C) n.2407+2T>C n.843+2T>C c.5408+2T>C (n.5408+2T>C) c.5363+2T>C (n.5363+2T>C) c.1529+2T>C n.764+2T>C n.835+2T>C c.5435+2T>C (n.5435+2T>C) n.162+2T>C c.4487+2T>C (n.4487+2T>C) c.5663+2T>C (n.5663+2T>C) c.5552+2T>C (n.5552+2T>C) c.5474+2T>C (n.5474+2T>C) c.5126+2T>C (n.5126+2T>C) c.4751+2T>C (n.4751+2T>C) c.5558+2T>C (n.5558+2T>C) c.5660+2T>C (n.5660+2T>C) c.5603+2T>C (n.5603+2T>C) c.5579+2T>C (n.5579+2T>C) c.5534+2T>C (n.5534+2T>C) | |
3 | g.53801427T>G | CA353251974 | CACNA1D | c.5468+2T>G (n.5468+2T>G) n.2407+2T>G n.843+2T>G c.5408+2T>G (n.5408+2T>G) c.5363+2T>G (n.5363+2T>G) c.1529+2T>G n.764+2T>G n.835+2T>G c.5435+2T>G (n.5435+2T>G) n.162+2T>G c.4487+2T>G (n.4487+2T>G) c.5663+2T>G (n.5663+2T>G) c.5552+2T>G (n.5552+2T>G) c.5474+2T>G (n.5474+2T>G) c.5126+2T>G (n.5126+2T>G) c.4751+2T>G (n.4751+2T>G) c.5558+2T>G (n.5558+2T>G) c.5660+2T>G (n.5660+2T>G) c.5603+2T>G (n.5603+2T>G) c.5579+2T>G (n.5579+2T>G) c.5534+2T>G (n.5534+2T>G) | |
3 | g.53801427_53801428delinsTA | CA1365484238 | CACNA1D | c.5468+2_5468+3delinsTA (n.5468+2_5468+3delinsTA) n.2407+2_2407+3delinsTA n.843+2_843+3delinsTA c.5408+2_5408+3delinsTA (n.5408+2_5408+3delinsTA) c.5363+2_5363+3delinsTA (n.5363+2_5363+3delinsTA) c.1529+2_1529+3delinsTA n.764+2_764+3delinsTA n.835+2_835+3delinsTA c.5435+2_5435+3delinsTA (n.5435+2_5435+3delinsTA) n.162+2_162+3delinsTA c.4487+2_4487+3delinsTA (n.4487+2_4487+3delinsTA) c.5663+2_5663+3delinsTA (n.5663+2_5663+3delinsTA) c.5552+2_5552+3delinsTA (n.5552+2_5552+3delinsTA) c.5474+2_5474+3delinsTA (n.5474+2_5474+3delinsTA) c.5126+2_5126+3delinsTA (n.5126+2_5126+3delinsTA) c.4751+2_4751+3delinsTA (n.4751+2_4751+3delinsTA) c.5558+2_5558+3delinsTA (n.5558+2_5558+3delinsTA) c.5660+2_5660+3delinsTA (n.5660+2_5660+3delinsTA) c.5603+2_5603+3delinsTA (n.5603+2_5603+3delinsTA) c.5579+2_5579+3delinsTA (n.5579+2_5579+3delinsTA) c.5534+2_5534+3delinsTA (n.5534+2_5534+3delinsTA) | |
3 | g.53801429del | CA658796338 | CACNA1D | c.5468+4del (n.5468+4del) n.2407+4del n.843+4del c.5408+4del (n.5408+4del) c.5363+4del (n.5363+4del) c.1529+4del n.764+4del n.835+4del c.5435+4del (n.5435+4del) n.162+4del c.4487+4del (n.4487+4del) c.5663+4del (n.5663+4del) c.5552+4del (n.5552+4del) c.5474+4del (n.5474+4del) c.5126+4del (n.5126+4del) c.4751+4del (n.4751+4del) c.5558+4del (n.5558+4del) c.5660+4del (n.5660+4del) c.5603+4del (n.5603+4del) c.5579+4del (n.5579+4del) c.5534+4del (n.5534+4del) | ClinVar dbSNP |
3 | g.53801430C>A | CA2666139601 | CACNA1D | c.5468+5C>A (n.5468+5C>A) n.2407+5C>A n.843+5C>A c.5408+5C>A (n.5408+5C>A) c.5363+5C>A (n.5363+5C>A) c.1529+5C>A n.764+5C>A n.835+5C>A c.5435+5C>A (n.5435+5C>A) n.162+5C>A c.4487+5C>A (n.4487+5C>A) c.5663+5C>A (n.5663+5C>A) c.5552+5C>A (n.5552+5C>A) c.5474+5C>A (n.5474+5C>A) c.5126+5C>A (n.5126+5C>A) c.4751+5C>A (n.4751+5C>A) c.5558+5C>A (n.5558+5C>A) c.5660+5C>A (n.5660+5C>A) c.5603+5C>A (n.5603+5C>A) c.5579+5C>A (n.5579+5C>A) c.5534+5C>A (n.5534+5C>A) | gnomAD v4 |
3 | g.53801431dup | CA2580070276 | CACNA1D | c.5468+6dup (n.5468+6dup) n.2407+6dup n.843+6dup c.5408+6dup (n.5408+6dup) c.5363+6dup (n.5363+6dup) c.1529+6dup n.764+6dup n.835+6dup c.5435+6dup (n.5435+6dup) n.162+6dup c.4487+6dup (n.4487+6dup) c.5663+6dup (n.5663+6dup) c.5552+6dup (n.5552+6dup) c.5474+6dup (n.5474+6dup) c.5126+6dup (n.5126+6dup) c.4751+6dup (n.4751+6dup) c.5558+6dup (n.5558+6dup) c.5660+6dup (n.5660+6dup) c.5603+6dup (n.5603+6dup) c.5579+6dup (n.5579+6dup) c.5534+6dup (n.5534+6dup) | ClinVar |
3 | g.53801431C= | CA1365484240 | CACNA1D | c.5468+6C= (n.5468+6C=) n.2407+6C= n.843+6C= c.5408+6C= (n.5408+6C=) c.5363+6C= (n.5363+6C=) c.1529+6C= n.764+6C= n.835+6C= c.5435+6C= (n.5435+6C=) n.162+6C= c.4487+6C= (n.4487+6C=) c.5663+6C= (n.5663+6C=) c.5552+6C= (n.5552+6C=) c.5474+6C= (n.5474+6C=) c.5126+6C= (n.5126+6C=) c.4751+6C= (n.4751+6C=) c.5558+6C= (n.5558+6C=) c.5660+6C= (n.5660+6C=) c.5603+6C= (n.5603+6C=) c.5579+6C= (n.5579+6C=) c.5534+6C= (n.5534+6C=) | |
3 | g.53801431C>T | CA543193896 | CACNA1D | c.5468+6C>T (n.5468+6C>T) n.2407+6C>T n.843+6C>T c.5408+6C>T (n.5408+6C>T) c.5363+6C>T (n.5363+6C>T) c.1529+6C>T n.764+6C>T n.835+6C>T c.5435+6C>T (n.5435+6C>T) n.162+6C>T c.4487+6C>T (n.4487+6C>T) c.5663+6C>T (n.5663+6C>T) c.5552+6C>T (n.5552+6C>T) c.5474+6C>T (n.5474+6C>T) c.5126+6C>T (n.5126+6C>T) c.4751+6C>T (n.4751+6C>T) c.5558+6C>T (n.5558+6C>T) c.5660+6C>T (n.5660+6C>T) c.5603+6C>T (n.5603+6C>T) c.5579+6C>T (n.5579+6C>T) c.5534+6C>T (n.5534+6C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.53801431_53801432delinsCT | CA1365484239 | CACNA1D | c.5468+6_5468+7delinsCT (n.5468+6_5468+7delinsCT) n.2407+6_2407+7delinsCT n.843+6_843+7delinsCT c.5408+6_5408+7delinsCT (n.5408+6_5408+7delinsCT) c.5363+6_5363+7delinsCT (n.5363+6_5363+7delinsCT) c.1529+6_1529+7delinsCT n.764+6_764+7delinsCT n.835+6_835+7delinsCT c.5435+6_5435+7delinsCT (n.5435+6_5435+7delinsCT) n.162+6_162+7delinsCT c.4487+6_4487+7delinsCT (n.4487+6_4487+7delinsCT) c.5663+6_5663+7delinsCT (n.5663+6_5663+7delinsCT) c.5552+6_5552+7delinsCT (n.5552+6_5552+7delinsCT) c.5474+6_5474+7delinsCT (n.5474+6_5474+7delinsCT) c.5126+6_5126+7delinsCT (n.5126+6_5126+7delinsCT) c.4751+6_4751+7delinsCT (n.4751+6_4751+7delinsCT) c.5558+6_5558+7delinsCT (n.5558+6_5558+7delinsCT) c.5660+6_5660+7delinsCT (n.5660+6_5660+7delinsCT) c.5603+6_5603+7delinsCT (n.5603+6_5603+7delinsCT) c.5579+6_5579+7delinsCT (n.5579+6_5579+7delinsCT) c.5534+6_5534+7delinsCT (n.5534+6_5534+7delinsCT) | |
3 | g.53801433del | CA2455113 | CACNA1D | c.5468+8del (n.5468+8del) n.2407+8del n.843+8del c.5408+8del (n.5408+8del) c.5363+8del (n.5363+8del) c.1529+8del n.764+8del n.835+8del c.5435+8del (n.5435+8del) n.162+8del c.4487+8del (n.4487+8del) c.5663+8del (n.5663+8del) c.5552+8del (n.5552+8del) c.5474+8del (n.5474+8del) c.5126+8del (n.5126+8del) c.4751+8del (n.4751+8del) c.5558+8del (n.5558+8del) c.5660+8del (n.5660+8del) c.5603+8del (n.5603+8del) c.5579+8del (n.5579+8del) c.5534+8del (n.5534+8del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.53801433T>G | CA1048074889 | CACNA1D | c.5468+8T>G (n.5468+8T>G) n.2407+8T>G n.843+8T>G c.5408+8T>G (n.5408+8T>G) c.5363+8T>G (n.5363+8T>G) c.1529+8T>G n.764+8T>G n.835+8T>G c.5435+8T>G (n.5435+8T>G) n.162+8T>G c.4487+8T>G (n.4487+8T>G) c.5663+8T>G (n.5663+8T>G) c.5552+8T>G (n.5552+8T>G) c.5474+8T>G (n.5474+8T>G) c.5126+8T>G (n.5126+8T>G) c.4751+8T>G (n.4751+8T>G) c.5558+8T>G (n.5558+8T>G) c.5660+8T>G (n.5660+8T>G) c.5603+8T>G (n.5603+8T>G) c.5579+8T>G (n.5579+8T>G) c.5534+8T>G (n.5534+8T>G) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.53801433T= | CA1365484241 | CACNA1D | c.5468+8T= (n.5468+8T=) n.2407+8T= n.843+8T= c.5408+8T= (n.5408+8T=) c.5363+8T= (n.5363+8T=) c.1529+8T= n.764+8T= n.835+8T= c.5435+8T= (n.5435+8T=) n.162+8T= c.4487+8T= (n.4487+8T=) c.5663+8T= (n.5663+8T=) c.5552+8T= (n.5552+8T=) c.5474+8T= (n.5474+8T=) c.5126+8T= (n.5126+8T=) c.4751+8T= (n.4751+8T=) c.5558+8T= (n.5558+8T=) c.5660+8T= (n.5660+8T=) c.5603+8T= (n.5603+8T=) c.5579+8T= (n.5579+8T=) c.5534+8T= (n.5534+8T=) | |
3 | g.53801434G>A | CA2455114 | CACNA1D | c.5468+9G>A (n.5468+9G>A) n.2407+9G>A n.843+9G>A c.5408+9G>A (n.5408+9G>A) c.5363+9G>A (n.5363+9G>A) c.1529+9G>A n.764+9G>A n.835+9G>A c.5435+9G>A (n.5435+9G>A) n.162+9G>A c.4487+9G>A (n.4487+9G>A) c.5663+9G>A (n.5663+9G>A) c.5552+9G>A (n.5552+9G>A) c.5474+9G>A (n.5474+9G>A) c.5126+9G>A (n.5126+9G>A) c.4751+9G>A (n.4751+9G>A) c.5558+9G>A (n.5558+9G>A) c.5660+9G>A (n.5660+9G>A) c.5603+9G>A (n.5603+9G>A) c.5579+9G>A (n.5579+9G>A) c.5534+9G>A (n.5534+9G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.53801434G>C | CA2666139602 | CACNA1D | c.5468+9G>C (n.5468+9G>C) n.2407+9G>C n.843+9G>C c.5408+9G>C (n.5408+9G>C) c.5363+9G>C (n.5363+9G>C) c.1529+9G>C n.764+9G>C n.835+9G>C c.5435+9G>C (n.5435+9G>C) n.162+9G>C c.4487+9G>C (n.4487+9G>C) c.5663+9G>C (n.5663+9G>C) c.5552+9G>C (n.5552+9G>C) c.5474+9G>C (n.5474+9G>C) c.5126+9G>C (n.5126+9G>C) c.4751+9G>C (n.4751+9G>C) c.5558+9G>C (n.5558+9G>C) c.5660+9G>C (n.5660+9G>C) c.5603+9G>C (n.5603+9G>C) c.5579+9G>C (n.5579+9G>C) c.5534+9G>C (n.5534+9G>C) | gnomAD v4 |
3 | g.53801434G= | CA1365484242 | CACNA1D | c.5468+9G= (n.5468+9G=) n.2407+9G= n.843+9G= c.5408+9G= (n.5408+9G=) c.5363+9G= (n.5363+9G=) c.1529+9G= n.764+9G= n.835+9G= c.5435+9G= (n.5435+9G=) n.162+9G= c.4487+9G= (n.4487+9G=) c.5663+9G= (n.5663+9G=) c.5552+9G= (n.5552+9G=) c.5474+9G= (n.5474+9G=) c.5126+9G= (n.5126+9G=) c.4751+9G= (n.4751+9G=) c.5558+9G= (n.5558+9G=) c.5660+9G= (n.5660+9G=) c.5603+9G= (n.5603+9G=) c.5579+9G= (n.5579+9G=) c.5534+9G= (n.5534+9G=) | |
3 | g.53801438A= | CA1365484243 | CACNA1D | c.5468+13A= (n.5468+13A=) n.2407+13A= n.843+13A= c.5408+13A= (n.5408+13A=) c.5363+13A= (n.5363+13A=) c.1529+13A= n.764+13A= n.835+13A= c.5435+13A= (n.5435+13A=) n.162+13A= c.4487+13A= (n.4487+13A=) c.5663+13A= (n.5663+13A=) c.5552+13A= (n.5552+13A=) c.5474+13A= (n.5474+13A=) c.5126+13A= (n.5126+13A=) c.4751+13A= (n.4751+13A=) c.5558+13A= (n.5558+13A=) c.5660+13A= (n.5660+13A=) c.5603+13A= (n.5603+13A=) c.5579+13A= (n.5579+13A=) c.5534+13A= (n.5534+13A=) | |
3 | g.53801438A>G | CA74860031 | CACNA1D | c.5468+13A>G (n.5468+13A>G) n.2407+13A>G n.843+13A>G c.5408+13A>G (n.5408+13A>G) c.5363+13A>G (n.5363+13A>G) c.1529+13A>G n.764+13A>G n.835+13A>G c.5435+13A>G (n.5435+13A>G) n.162+13A>G c.4487+13A>G (n.4487+13A>G) c.5663+13A>G (n.5663+13A>G) c.5552+13A>G (n.5552+13A>G) c.5474+13A>G (n.5474+13A>G) c.5126+13A>G (n.5126+13A>G) c.4751+13A>G (n.4751+13A>G) c.5558+13A>G (n.5558+13A>G) c.5660+13A>G (n.5660+13A>G) c.5603+13A>G (n.5603+13A>G) c.5579+13A>G (n.5579+13A>G) c.5534+13A>G (n.5534+13A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.53801439T>C | CA647893535 | CACNA1D | c.5468+14T>C (n.5468+14T>C) n.2407+14T>C n.843+14T>C c.5408+14T>C (n.5408+14T>C) c.5363+14T>C (n.5363+14T>C) c.1529+14T>C n.764+14T>C n.835+14T>C c.5435+14T>C (n.5435+14T>C) n.162+14T>C c.4487+14T>C (n.4487+14T>C) c.5663+14T>C (n.5663+14T>C) c.5552+14T>C (n.5552+14T>C) c.5474+14T>C (n.5474+14T>C) c.5126+14T>C (n.5126+14T>C) c.4751+14T>C (n.4751+14T>C) c.5558+14T>C (n.5558+14T>C) c.5660+14T>C (n.5660+14T>C) c.5603+14T>C (n.5603+14T>C) c.5579+14T>C (n.5579+14T>C) c.5534+14T>C (n.5534+14T>C) | ClinVar dbSNP gnomAD v4 COSMIC |
3 | g.53801439T= | CA1365484244 | CACNA1D | c.5468+14T= (n.5468+14T=) n.2407+14T= n.843+14T= c.5408+14T= (n.5408+14T=) c.5363+14T= (n.5363+14T=) c.1529+14T= n.764+14T= n.835+14T= c.5435+14T= (n.5435+14T=) n.162+14T= c.4487+14T= (n.4487+14T=) c.5663+14T= (n.5663+14T=) c.5552+14T= (n.5552+14T=) c.5474+14T= (n.5474+14T=) c.5126+14T= (n.5126+14T=) c.4751+14T= (n.4751+14T=) c.5558+14T= (n.5558+14T=) c.5660+14T= (n.5660+14T=) c.5603+14T= (n.5603+14T=) c.5579+14T= (n.5579+14T=) c.5534+14T= (n.5534+14T=) | |
3 | g.53801440G>T | CA2666139603 | CACNA1D | c.5468+15G>T (n.5468+15G>T) n.2407+15G>T n.843+15G>T c.5408+15G>T (n.5408+15G>T) c.5363+15G>T (n.5363+15G>T) c.1529+15G>T n.764+15G>T n.835+15G>T c.5435+15G>T (n.5435+15G>T) n.162+15G>T c.4487+15G>T (n.4487+15G>T) c.5663+15G>T (n.5663+15G>T) c.5552+15G>T (n.5552+15G>T) c.5474+15G>T (n.5474+15G>T) c.5126+15G>T (n.5126+15G>T) c.4751+15G>T (n.4751+15G>T) c.5558+15G>T (n.5558+15G>T) c.5660+15G>T (n.5660+15G>T) c.5603+15G>T (n.5603+15G>T) c.5579+15G>T (n.5579+15G>T) c.5534+15G>T (n.5534+15G>T) | gnomAD v4 |
3 | g.53801441T>C | CA2666139604 | CACNA1D | c.5468+16T>C (n.5468+16T>C) n.2407+16T>C n.843+16T>C c.5408+16T>C (n.5408+16T>C) c.5363+16T>C (n.5363+16T>C) c.1529+16T>C n.764+16T>C n.835+16T>C c.5435+16T>C (n.5435+16T>C) n.162+16T>C c.4487+16T>C (n.4487+16T>C) c.5663+16T>C (n.5663+16T>C) c.5552+16T>C (n.5552+16T>C) c.5474+16T>C (n.5474+16T>C) c.5126+16T>C (n.5126+16T>C) c.4751+16T>C (n.4751+16T>C) c.5558+16T>C (n.5558+16T>C) c.5660+16T>C (n.5660+16T>C) c.5603+16T>C (n.5603+16T>C) c.5579+16T>C (n.5579+16T>C) c.5534+16T>C (n.5534+16T>C) | gnomAD v4 |
3 | g.53801442G>A | CA1365484246 | CACNA1D | c.5468+17G>A (n.5468+17G>A) n.2407+17G>A n.843+17G>A c.5408+17G>A (n.5408+17G>A) c.5363+17G>A (n.5363+17G>A) c.1529+17G>A n.764+17G>A n.835+17G>A c.5435+17G>A (n.5435+17G>A) n.162+17G>A c.4487+17G>A (n.4487+17G>A) c.5663+17G>A (n.5663+17G>A) c.5552+17G>A (n.5552+17G>A) c.5474+17G>A (n.5474+17G>A) c.5126+17G>A (n.5126+17G>A) c.4751+17G>A (n.4751+17G>A) c.5558+17G>A (n.5558+17G>A) c.5660+17G>A (n.5660+17G>A) c.5603+17G>A (n.5603+17G>A) c.5579+17G>A (n.5579+17G>A) c.5534+17G>A (n.5534+17G>A) | dbSNP gnomAD v4 |
3 | g.53801442G= | CA1365484245 | CACNA1D | c.5468+17G= (n.5468+17G=) n.2407+17G= n.843+17G= c.5408+17G= (n.5408+17G=) c.5363+17G= (n.5363+17G=) c.1529+17G= n.764+17G= n.835+17G= c.5435+17G= (n.5435+17G=) n.162+17G= c.4487+17G= (n.4487+17G=) c.5663+17G= (n.5663+17G=) c.5552+17G= (n.5552+17G=) c.5474+17G= (n.5474+17G=) c.5126+17G= (n.5126+17G=) c.4751+17G= (n.4751+17G=) c.5558+17G= (n.5558+17G=) c.5660+17G= (n.5660+17G=) c.5603+17G= (n.5603+17G=) c.5579+17G= (n.5579+17G=) c.5534+17G= (n.5534+17G=) | |
3 | g.53801443T>G | CA2519036278 | CACNA1D | c.5468+18T>G (n.5468+18T>G) n.2407+18T>G n.843+18T>G c.5408+18T>G (n.5408+18T>G) c.5363+18T>G (n.5363+18T>G) c.1529+18T>G n.764+18T>G n.835+18T>G c.5435+18T>G (n.5435+18T>G) n.162+18T>G c.4487+18T>G (n.4487+18T>G) c.5663+18T>G (n.5663+18T>G) c.5552+18T>G (n.5552+18T>G) c.5474+18T>G (n.5474+18T>G) c.5126+18T>G (n.5126+18T>G) c.4751+18T>G (n.4751+18T>G) c.5558+18T>G (n.5558+18T>G) c.5660+18T>G (n.5660+18T>G) c.5603+18T>G (n.5603+18T>G) c.5579+18T>G (n.5579+18T>G) c.5534+18T>G (n.5534+18T>G) | |
3 | g.53801445T>C | CA543193897 | CACNA1D | c.5468+20T>C (n.5468+20T>C) n.2407+20T>C n.843+20T>C c.5408+20T>C (n.5408+20T>C) c.5363+20T>C (n.5363+20T>C) c.1529+20T>C n.764+20T>C n.835+20T>C c.5435+20T>C (n.5435+20T>C) n.162+20T>C c.4487+20T>C (n.4487+20T>C) c.5663+20T>C (n.5663+20T>C) c.5552+20T>C (n.5552+20T>C) c.5474+20T>C (n.5474+20T>C) c.5126+20T>C (n.5126+20T>C) c.4751+20T>C (n.4751+20T>C) c.5558+20T>C (n.5558+20T>C) c.5660+20T>C (n.5660+20T>C) c.5603+20T>C (n.5603+20T>C) c.5579+20T>C (n.5579+20T>C) c.5534+20T>C (n.5534+20T>C) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.53801445T= | CA1365484247 | CACNA1D | c.5468+20T= (n.5468+20T=) n.2407+20T= n.843+20T= c.5408+20T= (n.5408+20T=) c.5363+20T= (n.5363+20T=) c.1529+20T= n.764+20T= n.835+20T= c.5435+20T= (n.5435+20T=) n.162+20T= c.4487+20T= (n.4487+20T=) c.5663+20T= (n.5663+20T=) c.5552+20T= (n.5552+20T=) c.5474+20T= (n.5474+20T=) c.5126+20T= (n.5126+20T=) c.4751+20T= (n.4751+20T=) c.5558+20T= (n.5558+20T=) c.5660+20T= (n.5660+20T=) c.5603+20T= (n.5603+20T=) c.5579+20T= (n.5579+20T=) c.5534+20T= (n.5534+20T=) | |
3 | g.53801448A>G | CA2577794096 | CACNA1D | c.5468+23A>G (n.5468+23A>G) n.2407+23A>G n.843+23A>G c.5408+23A>G (n.5408+23A>G) c.5363+23A>G (n.5363+23A>G) c.1529+23A>G n.764+23A>G n.835+23A>G c.5435+23A>G (n.5435+23A>G) n.162+23A>G c.4487+23A>G (n.4487+23A>G) c.5663+23A>G (n.5663+23A>G) c.5552+23A>G (n.5552+23A>G) c.5474+23A>G (n.5474+23A>G) c.5126+23A>G (n.5126+23A>G) c.4751+23A>G (n.4751+23A>G) c.5558+23A>G (n.5558+23A>G) c.5660+23A>G (n.5660+23A>G) c.5603+23A>G (n.5603+23A>G) c.5579+23A>G (n.5579+23A>G) c.5534+23A>G (n.5534+23A>G) | |
3 | g.53801449C>G | CA2666139605 | CACNA1D | c.5468+24C>G (n.5468+24C>G) n.2407+24C>G n.843+24C>G c.5408+24C>G (n.5408+24C>G) c.5363+24C>G (n.5363+24C>G) c.1529+24C>G n.764+24C>G n.835+24C>G c.5435+24C>G (n.5435+24C>G) n.162+24C>G c.4487+24C>G (n.4487+24C>G) c.5663+24C>G (n.5663+24C>G) c.5552+24C>G (n.5552+24C>G) c.5474+24C>G (n.5474+24C>G) c.5126+24C>G (n.5126+24C>G) c.4751+24C>G (n.4751+24C>G) c.5558+24C>G (n.5558+24C>G) c.5660+24C>G (n.5660+24C>G) c.5603+24C>G (n.5603+24C>G) c.5579+24C>G (n.5579+24C>G) c.5534+24C>G (n.5534+24C>G) | gnomAD v4 |
3 | g.53801450T>C | CA2666139606 | CACNA1D | c.5468+25T>C (n.5468+25T>C) n.2407+25T>C n.843+25T>C c.5408+25T>C (n.5408+25T>C) c.5363+25T>C (n.5363+25T>C) c.1529+25T>C n.764+25T>C n.835+25T>C c.5435+25T>C (n.5435+25T>C) n.162+25T>C c.4487+25T>C (n.4487+25T>C) c.5663+25T>C (n.5663+25T>C) c.5552+25T>C (n.5552+25T>C) c.5474+25T>C (n.5474+25T>C) c.5126+25T>C (n.5126+25T>C) c.4751+25T>C (n.4751+25T>C) c.5558+25T>C (n.5558+25T>C) c.5660+25T>C (n.5660+25T>C) c.5603+25T>C (n.5603+25T>C) c.5579+25T>C (n.5579+25T>C) c.5534+25T>C (n.5534+25T>C) | gnomAD v4 |
3 | g.53801452G>A | CA908235987 | CACNA1D | c.5468+27G>A (n.5468+27G>A) n.2407+27G>A n.843+27G>A c.5408+27G>A (n.5408+27G>A) c.5363+27G>A (n.5363+27G>A) c.1529+27G>A n.764+27G>A n.835+27G>A c.5435+27G>A (n.5435+27G>A) n.162+27G>A c.4487+27G>A (n.4487+27G>A) c.5663+27G>A (n.5663+27G>A) c.5552+27G>A (n.5552+27G>A) c.5474+27G>A (n.5474+27G>A) c.5126+27G>A (n.5126+27G>A) c.4751+27G>A (n.4751+27G>A) c.5558+27G>A (n.5558+27G>A) c.5660+27G>A (n.5660+27G>A) c.5603+27G>A (n.5603+27G>A) c.5579+27G>A (n.5579+27G>A) c.5534+27G>A (n.5534+27G>A) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.53801452G= | CA1365484248 | CACNA1D | c.5468+27G= (n.5468+27G=) n.2407+27G= n.843+27G= c.5408+27G= (n.5408+27G=) c.5363+27G= (n.5363+27G=) c.1529+27G= n.764+27G= n.835+27G= c.5435+27G= (n.5435+27G=) n.162+27G= c.4487+27G= (n.4487+27G=) c.5663+27G= (n.5663+27G=) c.5552+27G= (n.5552+27G=) c.5474+27G= (n.5474+27G=) c.5126+27G= (n.5126+27G=) c.4751+27G= (n.4751+27G=) c.5558+27G= (n.5558+27G=) c.5660+27G= (n.5660+27G=) c.5603+27G= (n.5603+27G=) c.5579+27G= (n.5579+27G=) c.5534+27G= (n.5534+27G=) | |
3 | g.53801452G>T | CA2666139607 | CACNA1D | c.5468+27G>T (n.5468+27G>T) n.2407+27G>T n.843+27G>T c.5408+27G>T (n.5408+27G>T) c.5363+27G>T (n.5363+27G>T) c.1529+27G>T n.764+27G>T n.835+27G>T c.5435+27G>T (n.5435+27G>T) n.162+27G>T c.4487+27G>T (n.4487+27G>T) c.5663+27G>T (n.5663+27G>T) c.5552+27G>T (n.5552+27G>T) c.5474+27G>T (n.5474+27G>T) c.5126+27G>T (n.5126+27G>T) c.4751+27G>T (n.4751+27G>T) c.5558+27G>T (n.5558+27G>T) c.5660+27G>T (n.5660+27G>T) c.5603+27G>T (n.5603+27G>T) c.5579+27G>T (n.5579+27G>T) c.5534+27G>T (n.5534+27G>T) | gnomAD v4 |
3 | g.53801453C>A | CA543193898 | CACNA1D | c.5468+28C>A (n.5468+28C>A) n.2407+28C>A n.843+28C>A c.5408+28C>A (n.5408+28C>A) c.5363+28C>A (n.5363+28C>A) c.1529+28C>A n.764+28C>A n.835+28C>A c.5435+28C>A (n.5435+28C>A) n.162+28C>A c.4487+28C>A (n.4487+28C>A) c.5663+28C>A (n.5663+28C>A) c.5552+28C>A (n.5552+28C>A) c.5474+28C>A (n.5474+28C>A) c.5126+28C>A (n.5126+28C>A) c.4751+28C>A (n.4751+28C>A) c.5558+28C>A (n.5558+28C>A) c.5660+28C>A (n.5660+28C>A) c.5603+28C>A (n.5603+28C>A) c.5579+28C>A (n.5579+28C>A) c.5534+28C>A (n.5534+28C>A) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.53801453C= | CA1365484249 | CACNA1D | c.5468+28C= (n.5468+28C=) n.2407+28C= n.843+28C= c.5408+28C= (n.5408+28C=) c.5363+28C= (n.5363+28C=) c.1529+28C= n.764+28C= n.835+28C= c.5435+28C= (n.5435+28C=) n.162+28C= c.4487+28C= (n.4487+28C=) c.5663+28C= (n.5663+28C=) c.5552+28C= (n.5552+28C=) c.5474+28C= (n.5474+28C=) c.5126+28C= (n.5126+28C=) c.4751+28C= (n.4751+28C=) c.5558+28C= (n.5558+28C=) c.5660+28C= (n.5660+28C=) c.5603+28C= (n.5603+28C=) c.5579+28C= (n.5579+28C=) c.5534+28C= (n.5534+28C=) | |
3 | g.53801453C>T | CA1365484250 | CACNA1D | c.5468+28C>T (n.5468+28C>T) n.2407+28C>T n.843+28C>T c.5408+28C>T (n.5408+28C>T) c.5363+28C>T (n.5363+28C>T) c.1529+28C>T n.764+28C>T n.835+28C>T c.5435+28C>T (n.5435+28C>T) n.162+28C>T c.4487+28C>T (n.4487+28C>T) c.5663+28C>T (n.5663+28C>T) c.5552+28C>T (n.5552+28C>T) c.5474+28C>T (n.5474+28C>T) c.5126+28C>T (n.5126+28C>T) c.4751+28C>T (n.4751+28C>T) c.5558+28C>T (n.5558+28C>T) c.5660+28C>T (n.5660+28C>T) c.5603+28C>T (n.5603+28C>T) c.5579+28C>T (n.5579+28C>T) c.5534+28C>T (n.5534+28C>T) | dbSNP gnomAD v4 |
3 | g.53801454T>A | CA908235991 | CACNA1D | c.5468+29T>A (n.5468+29T>A) n.2407+29T>A n.843+29T>A c.5408+29T>A (n.5408+29T>A) c.5363+29T>A (n.5363+29T>A) c.1529+29T>A n.764+29T>A n.835+29T>A c.5435+29T>A (n.5435+29T>A) n.162+29T>A c.4487+29T>A (n.4487+29T>A) c.5663+29T>A (n.5663+29T>A) c.5552+29T>A (n.5552+29T>A) c.5474+29T>A (n.5474+29T>A) c.5126+29T>A (n.5126+29T>A) c.4751+29T>A (n.4751+29T>A) c.5558+29T>A (n.5558+29T>A) c.5660+29T>A (n.5660+29T>A) c.5603+29T>A (n.5603+29T>A) c.5579+29T>A (n.5579+29T>A) c.5534+29T>A (n.5534+29T>A) | dbSNP |
3 | g.53801454T= | CA1365484251 | CACNA1D | c.5468+29T= (n.5468+29T=) n.2407+29T= n.843+29T= c.5408+29T= (n.5408+29T=) c.5363+29T= (n.5363+29T=) c.1529+29T= n.764+29T= n.835+29T= c.5435+29T= (n.5435+29T=) n.162+29T= c.4487+29T= (n.4487+29T=) c.5663+29T= (n.5663+29T=) c.5552+29T= (n.5552+29T=) c.5474+29T= (n.5474+29T=) c.5126+29T= (n.5126+29T=) c.4751+29T= (n.4751+29T=) c.5558+29T= (n.5558+29T=) c.5660+29T= (n.5660+29T=) c.5603+29T= (n.5603+29T=) c.5579+29T= (n.5579+29T=) c.5534+29T= (n.5534+29T=) | |
3 | g.53801455C= | CA1365484252 | CACNA1D | c.5468+30C= (n.5468+30C=) n.2407+30C= n.843+30C= c.5408+30C= (n.5408+30C=) c.5363+30C= (n.5363+30C=) c.1529+30C= n.764+30C= n.835+30C= c.5435+30C= (n.5435+30C=) n.162+30C= c.4487+30C= (n.4487+30C=) c.5663+30C= (n.5663+30C=) c.5552+30C= (n.5552+30C=) c.5474+30C= (n.5474+30C=) c.5126+30C= (n.5126+30C=) c.4751+30C= (n.4751+30C=) c.5558+30C= (n.5558+30C=) c.5660+30C= (n.5660+30C=) c.5603+30C= (n.5603+30C=) c.5579+30C= (n.5579+30C=) c.5534+30C= (n.5534+30C=) | |
3 | g.53801455C>T | CA2455115 | CACNA1D | c.5468+30C>T (n.5468+30C>T) n.2407+30C>T n.843+30C>T c.5408+30C>T (n.5408+30C>T) c.5363+30C>T (n.5363+30C>T) c.1529+30C>T n.764+30C>T n.835+30C>T c.5435+30C>T (n.5435+30C>T) n.162+30C>T c.4487+30C>T (n.4487+30C>T) c.5663+30C>T (n.5663+30C>T) c.5552+30C>T (n.5552+30C>T) c.5474+30C>T (n.5474+30C>T) c.5126+30C>T (n.5126+30C>T) c.4751+30C>T (n.4751+30C>T) c.5558+30C>T (n.5558+30C>T) c.5660+30C>T (n.5660+30C>T) c.5603+30C>T (n.5603+30C>T) c.5579+30C>T (n.5579+30C>T) c.5534+30C>T (n.5534+30C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.53801456A= | CA1365484253 | CACNA1D | c.5468+31A= (n.5468+31A=) n.2407+31A= n.843+31A= c.5408+31A= (n.5408+31A=) c.5363+31A= (n.5363+31A=) c.1529+31A= n.764+31A= n.835+31A= c.5435+31A= (n.5435+31A=) n.162+31A= c.4487+31A= (n.4487+31A=) c.5663+31A= (n.5663+31A=) c.5552+31A= (n.5552+31A=) c.5474+31A= (n.5474+31A=) c.5126+31A= (n.5126+31A=) c.4751+31A= (n.4751+31A=) c.5558+31A= (n.5558+31A=) c.5660+31A= (n.5660+31A=) c.5603+31A= (n.5603+31A=) c.5579+31A= (n.5579+31A=) c.5534+31A= (n.5534+31A=) | |
3 | g.53801456A>C | CA543193901 | CACNA1D | c.5468+31A>C (n.5468+31A>C) n.2407+31A>C n.843+31A>C c.5408+31A>C (n.5408+31A>C) c.5363+31A>C (n.5363+31A>C) c.1529+31A>C n.764+31A>C n.835+31A>C c.5435+31A>C (n.5435+31A>C) n.162+31A>C c.4487+31A>C (n.4487+31A>C) c.5663+31A>C (n.5663+31A>C) c.5552+31A>C (n.5552+31A>C) c.5474+31A>C (n.5474+31A>C) c.5126+31A>C (n.5126+31A>C) c.4751+31A>C (n.4751+31A>C) c.5558+31A>C (n.5558+31A>C) c.5660+31A>C (n.5660+31A>C) c.5603+31A>C (n.5603+31A>C) c.5579+31A>C (n.5579+31A>C) c.5534+31A>C (n.5534+31A>C) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.53801456A>G | CA2524854186 | CACNA1D | c.5468+31A>G (n.5468+31A>G) n.2407+31A>G n.843+31A>G c.5408+31A>G (n.5408+31A>G) c.5363+31A>G (n.5363+31A>G) c.1529+31A>G n.764+31A>G n.835+31A>G c.5435+31A>G (n.5435+31A>G) n.162+31A>G c.4487+31A>G (n.4487+31A>G) c.5663+31A>G (n.5663+31A>G) c.5552+31A>G (n.5552+31A>G) c.5474+31A>G (n.5474+31A>G) c.5126+31A>G (n.5126+31A>G) c.4751+31A>G (n.4751+31A>G) c.5558+31A>G (n.5558+31A>G) c.5660+31A>G (n.5660+31A>G) c.5603+31A>G (n.5603+31A>G) c.5579+31A>G (n.5579+31A>G) c.5534+31A>G (n.5534+31A>G) | gnomAD v4 |
3 | g.53801457T>C | CA2455117 | CACNA1D | c.5468+32T>C (n.5468+32T>C) n.2407+32T>C n.843+32T>C c.5408+32T>C (n.5408+32T>C) c.5363+32T>C (n.5363+32T>C) c.1529+32T>C n.764+32T>C n.835+32T>C c.5435+32T>C (n.5435+32T>C) n.162+32T>C c.4487+32T>C (n.4487+32T>C) c.5663+32T>C (n.5663+32T>C) c.5552+32T>C (n.5552+32T>C) c.5474+32T>C (n.5474+32T>C) c.5126+32T>C (n.5126+32T>C) c.4751+32T>C (n.4751+32T>C) c.5558+32T>C (n.5558+32T>C) c.5660+32T>C (n.5660+32T>C) c.5603+32T>C (n.5603+32T>C) c.5579+32T>C (n.5579+32T>C) c.5534+32T>C (n.5534+32T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.53801457T= | CA1365484255 | CACNA1D | c.5468+32T= (n.5468+32T=) n.2407+32T= n.843+32T= c.5408+32T= (n.5408+32T=) c.5363+32T= (n.5363+32T=) c.1529+32T= n.764+32T= n.835+32T= c.5435+32T= (n.5435+32T=) n.162+32T= c.4487+32T= (n.4487+32T=) c.5663+32T= (n.5663+32T=) c.5552+32T= (n.5552+32T=) c.5474+32T= (n.5474+32T=) c.5126+32T= (n.5126+32T=) c.4751+32T= (n.4751+32T=) c.5558+32T= (n.5558+32T=) c.5660+32T= (n.5660+32T=) c.5603+32T= (n.5603+32T=) c.5579+32T= (n.5579+32T=) c.5534+32T= (n.5534+32T=) | |
3 | g.53801457_53801460delinsTGTG | CA1365484254 | CACNA1D | c.5468+32_5468+35delinsTGTG (n.5468+32_5468+35delinsTGTG) n.2407+32_2407+35delinsTGTG n.843+32_843+35delinsTGTG c.5408+32_5408+35delinsTGTG (n.5408+32_5408+35delinsTGTG) c.5363+32_5363+35delinsTGTG (n.5363+32_5363+35delinsTGTG) c.1529+32_1529+35delinsTGTG n.764+32_764+35delinsTGTG n.835+32_835+35delinsTGTG c.5435+32_5435+35delinsTGTG (n.5435+32_5435+35delinsTGTG) n.162+32_162+35delinsTGTG c.4487+32_4487+35delinsTGTG (n.4487+32_4487+35delinsTGTG) c.5663+32_5663+35delinsTGTG (n.5663+32_5663+35delinsTGTG) c.5552+32_5552+35delinsTGTG (n.5552+32_5552+35delinsTGTG) c.5474+32_5474+35delinsTGTG (n.5474+32_5474+35delinsTGTG) c.5126+32_5126+35delinsTGTG (n.5126+32_5126+35delinsTGTG) c.4751+32_4751+35delinsTGTG (n.4751+32_4751+35delinsTGTG) c.5558+32_5558+35delinsTGTG (n.5558+32_5558+35delinsTGTG) c.5660+32_5660+35delinsTGTG (n.5660+32_5660+35delinsTGTG) c.5603+32_5603+35delinsTGTG (n.5603+32_5603+35delinsTGTG) c.5579+32_5579+35delinsTGTG (n.5579+32_5579+35delinsTGTG) c.5534+32_5534+35delinsTGTG (n.5534+32_5534+35delinsTGTG) | |
3 | g.53801458G>A | CA1365484257 | CACNA1D | c.5468+33G>A (n.5468+33G>A) n.2407+33G>A n.843+33G>A c.5408+33G>A (n.5408+33G>A) c.5363+33G>A (n.5363+33G>A) c.1529+33G>A n.764+33G>A n.835+33G>A c.5435+33G>A (n.5435+33G>A) n.162+33G>A c.4487+33G>A (n.4487+33G>A) c.5663+33G>A (n.5663+33G>A) c.5552+33G>A (n.5552+33G>A) c.5474+33G>A (n.5474+33G>A) c.5126+33G>A (n.5126+33G>A) c.4751+33G>A (n.4751+33G>A) c.5558+33G>A (n.5558+33G>A) c.5660+33G>A (n.5660+33G>A) c.5603+33G>A (n.5603+33G>A) c.5579+33G>A (n.5579+33G>A) c.5534+33G>A (n.5534+33G>A) | dbSNP gnomAD v4 |
3 | g.53801458G= | CA1365484256 | CACNA1D | c.5468+33G= (n.5468+33G=) n.2407+33G= n.843+33G= c.5408+33G= (n.5408+33G=) c.5363+33G= (n.5363+33G=) c.1529+33G= n.764+33G= n.835+33G= c.5435+33G= (n.5435+33G=) n.162+33G= c.4487+33G= (n.4487+33G=) c.5663+33G= (n.5663+33G=) c.5552+33G= (n.5552+33G=) c.5474+33G= (n.5474+33G=) c.5126+33G= (n.5126+33G=) c.4751+33G= (n.4751+33G=) c.5558+33G= (n.5558+33G=) c.5660+33G= (n.5660+33G=) c.5603+33G= (n.5603+33G=) c.5579+33G= (n.5579+33G=) c.5534+33G= (n.5534+33G=) | |
3 | g.53801461_53801463del | CA2455116 | CACNA1D | c.5468+36_5468+38del (n.5468+36_5468+38del) n.2407+36_2407+38del n.843+36_843+38del c.5408+36_5408+38del (n.5408+36_5408+38del) c.5363+36_5363+38del (n.5363+36_5363+38del) c.1529+36_1529+38del n.764+36_764+38del n.835+36_835+38del c.5435+36_5435+38del (n.5435+36_5435+38del) n.162+36_162+38del c.4487+36_4487+38del (n.4487+36_4487+38del) c.5663+36_5663+38del (n.5663+36_5663+38del) c.5552+36_5552+38del (n.5552+36_5552+38del) c.5474+36_5474+38del (n.5474+36_5474+38del) c.5126+36_5126+38del (n.5126+36_5126+38del) c.4751+36_4751+38del (n.4751+36_4751+38del) c.5558+36_5558+38del (n.5558+36_5558+38del) c.5660+36_5660+38del (n.5660+36_5660+38del) c.5603+36_5603+38del (n.5603+36_5603+38del) c.5579+36_5579+38del (n.5579+36_5579+38del) c.5534+36_5534+38del (n.5534+36_5534+38del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.53801459T>A | CA1365484259 | CACNA1D | c.5468+34T>A (n.5468+34T>A) n.2407+34T>A n.843+34T>A c.5408+34T>A (n.5408+34T>A) c.5363+34T>A (n.5363+34T>A) c.1529+34T>A n.764+34T>A n.835+34T>A c.5435+34T>A (n.5435+34T>A) n.162+34T>A c.4487+34T>A (n.4487+34T>A) c.5663+34T>A (n.5663+34T>A) c.5552+34T>A (n.5552+34T>A) c.5474+34T>A (n.5474+34T>A) c.5126+34T>A (n.5126+34T>A) c.4751+34T>A (n.4751+34T>A) c.5558+34T>A (n.5558+34T>A) c.5660+34T>A (n.5660+34T>A) c.5603+34T>A (n.5603+34T>A) c.5579+34T>A (n.5579+34T>A) c.5534+34T>A (n.5534+34T>A) | dbSNP |
3 | g.53801459T= | CA1365484258 | CACNA1D | c.5468+34T= (n.5468+34T=) n.2407+34T= n.843+34T= c.5408+34T= (n.5408+34T=) c.5363+34T= (n.5363+34T=) c.1529+34T= n.764+34T= n.835+34T= c.5435+34T= (n.5435+34T=) n.162+34T= c.4487+34T= (n.4487+34T=) c.5663+34T= (n.5663+34T=) c.5552+34T= (n.5552+34T=) c.5474+34T= (n.5474+34T=) c.5126+34T= (n.5126+34T=) c.4751+34T= (n.4751+34T=) c.5558+34T= (n.5558+34T=) c.5660+34T= (n.5660+34T=) c.5603+34T= (n.5603+34T=) c.5579+34T= (n.5579+34T=) c.5534+34T= (n.5534+34T=) |