Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.53801187A>CCA353250305CACNA1Dc.5230A>C (p.Thr1744Pro)
n.2194-25A>C
n.605A>C
c.5170A>C (p.Thr1724Pro)
c.5125A>C (p.Thr1709Pro)
c.1316-25A>C
n.526A>C
n.597A>C
c.5197A>C (p.Thr1733Pro)
c.4249A>C (p.Thr1417Pro)
c.5425A>C (p.Thr1809Pro)
c.5314A>C (p.Thr1772Pro)
c.5236A>C (p.Thr1746Pro)
c.4888A>C (p.Thr1630Pro)
c.4513A>C (p.Thr1505Pro)
c.5320A>C (p.Thr1774Pro)
c.5422A>C (p.Thr1808Pro)
c.5365A>C (p.Thr1789Pro)
c.5341A>C (p.Thr1781Pro)
c.5296A>C (p.Thr1766Pro)
3g.53801187A>GCA353250308CACNA1Dc.5230A>G (p.Thr1744Ala)
n.2194-25A>G
n.605A>G
c.5170A>G (p.Thr1724Ala)
c.5125A>G (p.Thr1709Ala)
c.1316-25A>G
n.526A>G
n.597A>G
c.5197A>G (p.Thr1733Ala)
c.4249A>G (p.Thr1417Ala)
c.5425A>G (p.Thr1809Ala)
c.5314A>G (p.Thr1772Ala)
c.5236A>G (p.Thr1746Ala)
c.4888A>G (p.Thr1630Ala)
c.4513A>G (p.Thr1505Ala)
c.5320A>G (p.Thr1774Ala)
c.5422A>G (p.Thr1808Ala)
c.5365A>G (p.Thr1789Ala)
c.5341A>G (p.Thr1781Ala)
c.5296A>G (p.Thr1766Ala)
 gnomAD v4
3g.53801187A>TCA353250309CACNA1Dc.5230A>T (p.Thr1744Ser)
n.2194-25A>T
n.605A>T
c.5170A>T (p.Thr1724Ser)
c.5125A>T (p.Thr1709Ser)
c.1316-25A>T
n.526A>T
n.597A>T
c.5197A>T (p.Thr1733Ser)
c.4249A>T (p.Thr1417Ser)
c.5425A>T (p.Thr1809Ser)
c.5314A>T (p.Thr1772Ser)
c.5236A>T (p.Thr1746Ser)
c.4888A>T (p.Thr1630Ser)
c.4513A>T (p.Thr1505Ser)
c.5320A>T (p.Thr1774Ser)
c.5422A>T (p.Thr1808Ser)
c.5365A>T (p.Thr1789Ser)
c.5341A>T (p.Thr1781Ser)
c.5296A>T (p.Thr1766Ser)
3g.53801188C>ACA353250318CACNA1Dc.5231C>A (p.Thr1744Asn)
n.2194-24C>A
n.606C>A
c.5171C>A (p.Thr1724Asn)
c.5126C>A (p.Thr1709Asn)
c.1316-24C>A
n.527C>A
n.598C>A
c.5198C>A (p.Thr1733Asn)
c.4250C>A (p.Thr1417Asn)
c.5426C>A (p.Thr1809Asn)
c.5315C>A (p.Thr1772Asn)
c.5237C>A (p.Thr1746Asn)
c.4889C>A (p.Thr1630Asn)
c.4514C>A (p.Thr1505Asn)
c.5321C>A (p.Thr1774Asn)
c.5423C>A (p.Thr1808Asn)
c.5366C>A (p.Thr1789Asn)
c.5342C>A (p.Thr1781Asn)
c.5297C>A (p.Thr1766Asn)
3g.53801188C>GCA353250320CACNA1Dc.5231C>G (p.Thr1744Ser)
n.2194-24C>G
n.606C>G
c.5171C>G (p.Thr1724Ser)
c.5126C>G (p.Thr1709Ser)
c.1316-24C>G
n.527C>G
n.598C>G
c.5198C>G (p.Thr1733Ser)
c.4250C>G (p.Thr1417Ser)
c.5426C>G (p.Thr1809Ser)
c.5315C>G (p.Thr1772Ser)
c.5237C>G (p.Thr1746Ser)
c.4889C>G (p.Thr1630Ser)
c.4514C>G (p.Thr1505Ser)
c.5321C>G (p.Thr1774Ser)
c.5423C>G (p.Thr1808Ser)
c.5366C>G (p.Thr1789Ser)
c.5342C>G (p.Thr1781Ser)
c.5297C>G (p.Thr1766Ser)
3g.53801188C>TCA353250324CACNA1Dc.5231C>T (p.Thr1744Ile)
n.2194-24C>T
n.606C>T
c.5171C>T (p.Thr1724Ile)
c.5126C>T (p.Thr1709Ile)
c.1316-24C>T
n.527C>T
n.598C>T
c.5198C>T (p.Thr1733Ile)
c.4250C>T (p.Thr1417Ile)
c.5426C>T (p.Thr1809Ile)
c.5315C>T (p.Thr1772Ile)
c.5237C>T (p.Thr1746Ile)
c.4889C>T (p.Thr1630Ile)
c.4514C>T (p.Thr1505Ile)
c.5321C>T (p.Thr1774Ile)
c.5423C>T (p.Thr1808Ile)
c.5366C>T (p.Thr1789Ile)
c.5342C>T (p.Thr1781Ile)
c.5297C>T (p.Thr1766Ile)
3g.53801189T>ACA433895991CACNA1Dc.5232T>A (p.Thr1744=)
n.2194-23T>A
n.607T>A
c.5172T>A (p.Thr1724=)
c.5127T>A (p.Thr1709=)
c.1316-23T>A
n.528T>A
n.599T>A
c.5199T>A (p.Thr1733=)
c.4251T>A (p.Thr1417=)
c.5427T>A (p.Thr1809=)
c.5316T>A (p.Thr1772=)
c.5238T>A (p.Thr1746=)
c.4890T>A (p.Thr1630=)
c.4515T>A (p.Thr1505=)
c.5322T>A (p.Thr1774=)
c.5424T>A (p.Thr1808=)
c.5367T>A (p.Thr1789=)
c.5343T>A (p.Thr1781=)
c.5298T>A (p.Thr1766=)
3g.53801189T>CCA433895993CACNA1Dc.5232T>C (p.Thr1744=)
n.2194-23T>C
n.607T>C
c.5172T>C (p.Thr1724=)
c.5127T>C (p.Thr1709=)
c.1316-23T>C
n.528T>C
n.599T>C
c.5199T>C (p.Thr1733=)
c.4251T>C (p.Thr1417=)
c.5427T>C (p.Thr1809=)
c.5316T>C (p.Thr1772=)
c.5238T>C (p.Thr1746=)
c.4890T>C (p.Thr1630=)
c.4515T>C (p.Thr1505=)
c.5322T>C (p.Thr1774=)
c.5424T>C (p.Thr1808=)
c.5367T>C (p.Thr1789=)
c.5343T>C (p.Thr1781=)
c.5298T>C (p.Thr1766=)
3g.53801189T>GCA433895994CACNA1Dc.5232T>G (p.Thr1744=)
n.2194-23T>G
n.607T>G
c.5172T>G (p.Thr1724=)
c.5127T>G (p.Thr1709=)
c.1316-23T>G
n.528T>G
n.599T>G
c.5199T>G (p.Thr1733=)
c.4251T>G (p.Thr1417=)
c.5427T>G (p.Thr1809=)
c.5316T>G (p.Thr1772=)
c.5238T>G (p.Thr1746=)
c.4890T>G (p.Thr1630=)
c.4515T>G (p.Thr1505=)
c.5322T>G (p.Thr1774=)
c.5424T>G (p.Thr1808=)
c.5367T>G (p.Thr1789=)
c.5343T>G (p.Thr1781=)
c.5298T>G (p.Thr1766=)
3g.53801190G>ACA353250333CACNA1Dc.5233G>A (p.Glu1745Lys)
n.2194-22G>A
n.608G>A
c.5173G>A (p.Glu1725Lys)
c.5128G>A (p.Glu1710Lys)
c.1316-22G>A
n.529G>A
n.600G>A
c.5200G>A (p.Glu1734Lys)
c.4252G>A (p.Glu1418Lys)
c.5428G>A (p.Glu1810Lys)
c.5317G>A (p.Glu1773Lys)
c.5239G>A (p.Glu1747Lys)
c.4891G>A (p.Glu1631Lys)
c.4516G>A (p.Glu1506Lys)
c.5323G>A (p.Glu1775Lys)
c.5425G>A (p.Glu1809Lys)
c.5368G>A (p.Glu1790Lys)
c.5344G>A (p.Glu1782Lys)
c.5299G>A (p.Glu1767Lys)
3g.53801190G>CCA353250331CACNA1Dc.5233G>C (p.Glu1745Gln)
n.2194-22G>C
n.608G>C
c.5173G>C (p.Glu1725Gln)
c.5128G>C (p.Glu1710Gln)
c.1316-22G>C
n.529G>C
n.600G>C
c.5200G>C (p.Glu1734Gln)
c.4252G>C (p.Glu1418Gln)
c.5428G>C (p.Glu1810Gln)
c.5317G>C (p.Glu1773Gln)
c.5239G>C (p.Glu1747Gln)
c.4891G>C (p.Glu1631Gln)
c.4516G>C (p.Glu1506Gln)
c.5323G>C (p.Glu1775Gln)
c.5425G>C (p.Glu1809Gln)
c.5368G>C (p.Glu1790Gln)
c.5344G>C (p.Glu1782Gln)
c.5299G>C (p.Glu1767Gln)
3g.53801190G>TCA353250329CACNA1Dc.5233G>T (p.Glu1745Ter)
n.2194-22G>T
n.608G>T
c.5173G>T (p.Glu1725Ter)
c.5128G>T (p.Glu1710Ter)
c.1316-22G>T
n.529G>T
n.600G>T
c.5200G>T (p.Glu1734Ter)
c.4252G>T (p.Glu1418Ter)
c.5428G>T (p.Glu1810Ter)
c.5317G>T (p.Glu1773Ter)
c.5239G>T (p.Glu1747Ter)
c.4891G>T (p.Glu1631Ter)
c.4516G>T (p.Glu1506Ter)
c.5323G>T (p.Glu1775Ter)
c.5425G>T (p.Glu1809Ter)
c.5368G>T (p.Glu1790Ter)
c.5344G>T (p.Glu1782Ter)
c.5299G>T (p.Glu1767Ter)
3g.53801191A>CCA353250337CACNA1Dc.5234A>C (p.Glu1745Ala)
n.2194-21A>C
n.609A>C
c.5174A>C (p.Glu1725Ala)
c.5129A>C (p.Glu1710Ala)
c.1316-21A>C
n.530A>C
n.601A>C
c.5201A>C (p.Glu1734Ala)
c.4253A>C (p.Glu1418Ala)
c.5429A>C (p.Glu1810Ala)
c.5318A>C (p.Glu1773Ala)
c.5240A>C (p.Glu1747Ala)
c.4892A>C (p.Glu1631Ala)
c.4517A>C (p.Glu1506Ala)
c.5324A>C (p.Glu1775Ala)
c.5426A>C (p.Glu1809Ala)
c.5369A>C (p.Glu1790Ala)
c.5345A>C (p.Glu1782Ala)
c.5300A>C (p.Glu1767Ala)
3g.53801191A>GCA353250344CACNA1Dc.5234A>G (p.Glu1745Gly)
n.2194-21A>G
n.609A>G
c.5174A>G (p.Glu1725Gly)
c.5129A>G (p.Glu1710Gly)
c.1316-21A>G
n.530A>G
n.601A>G
c.5201A>G (p.Glu1734Gly)
c.4253A>G (p.Glu1418Gly)
c.5429A>G (p.Glu1810Gly)
c.5318A>G (p.Glu1773Gly)
c.5240A>G (p.Glu1747Gly)
c.4892A>G (p.Glu1631Gly)
c.4517A>G (p.Glu1506Gly)
c.5324A>G (p.Glu1775Gly)
c.5426A>G (p.Glu1809Gly)
c.5369A>G (p.Glu1790Gly)
c.5345A>G (p.Glu1782Gly)
c.5300A>G (p.Glu1767Gly)
3g.53801191A>TCA353250354CACNA1Dc.5234A>T (p.Glu1745Val)
n.2194-21A>T
n.609A>T
c.5174A>T (p.Glu1725Val)
c.5129A>T (p.Glu1710Val)
c.1316-21A>T
n.530A>T
n.601A>T
c.5201A>T (p.Glu1734Val)
c.4253A>T (p.Glu1418Val)
c.5429A>T (p.Glu1810Val)
c.5318A>T (p.Glu1773Val)
c.5240A>T (p.Glu1747Val)
c.4892A>T (p.Glu1631Val)
c.4517A>T (p.Glu1506Val)
c.5324A>T (p.Glu1775Val)
c.5426A>T (p.Glu1809Val)
c.5369A>T (p.Glu1790Val)
c.5345A>T (p.Glu1782Val)
c.5300A>T (p.Glu1767Val)
3g.53801192G>ACA433895999CACNA1Dc.5235G>A (p.Glu1745=)
n.2194-20G>A
n.610G>A
c.5175G>A (p.Glu1725=)
c.5130G>A (p.Glu1710=)
c.1316-20G>A
n.531G>A
n.602G>A
c.5202G>A (p.Glu1734=)
c.4254G>A (p.Glu1418=)
c.5430G>A (p.Glu1810=)
c.5319G>A (p.Glu1773=)
c.5241G>A (p.Glu1747=)
c.4893G>A (p.Glu1631=)
c.4518G>A (p.Glu1506=)
c.5325G>A (p.Glu1775=)
c.5427G>A (p.Glu1809=)
c.5370G>A (p.Glu1790=)
c.5346G>A (p.Glu1782=)
c.5301G>A (p.Glu1767=)
3g.53801192G>CCA353250357CACNA1Dc.5235G>C (p.Glu1745Asp)
n.2194-20G>C
n.610G>C
c.5175G>C (p.Glu1725Asp)
c.5130G>C (p.Glu1710Asp)
c.1316-20G>C
n.531G>C
n.602G>C
c.5202G>C (p.Glu1734Asp)
c.4254G>C (p.Glu1418Asp)
c.5430G>C (p.Glu1810Asp)
c.5319G>C (p.Glu1773Asp)
c.5241G>C (p.Glu1747Asp)
c.4893G>C (p.Glu1631Asp)
c.4518G>C (p.Glu1506Asp)
c.5325G>C (p.Glu1775Asp)
c.5427G>C (p.Glu1809Asp)
c.5370G>C (p.Glu1790Asp)
c.5346G>C (p.Glu1782Asp)
c.5301G>C (p.Glu1767Asp)
3g.53801192G>TCA353250360CACNA1Dc.5235G>T (p.Glu1745Asp)
n.2194-20G>T
n.610G>T
c.5175G>T (p.Glu1725Asp)
c.5130G>T (p.Glu1710Asp)
c.1316-20G>T
n.531G>T
n.602G>T
c.5202G>T (p.Glu1734Asp)
c.4254G>T (p.Glu1418Asp)
c.5430G>T (p.Glu1810Asp)
c.5319G>T (p.Glu1773Asp)
c.5241G>T (p.Glu1747Asp)
c.4893G>T (p.Glu1631Asp)
c.4518G>T (p.Glu1506Asp)
c.5325G>T (p.Glu1775Asp)
c.5427G>T (p.Glu1809Asp)
c.5370G>T (p.Glu1790Asp)
c.5346G>T (p.Glu1782Asp)
c.5301G>T (p.Glu1767Asp)
3g.53801193A>CCA353250363CACNA1Dc.5236A>C (p.Lys1746Gln)
n.2194-19A>C
n.611A>C
c.5176A>C (p.Lys1726Gln)
c.5131A>C (p.Lys1711Gln)
c.1316-19A>C
n.532A>C
n.603A>C
c.5203A>C (p.Lys1735Gln)
c.4255A>C (p.Lys1419Gln)
c.5431A>C (p.Lys1811Gln)
c.5320A>C (p.Lys1774Gln)
c.5242A>C (p.Lys1748Gln)
c.4894A>C (p.Lys1632Gln)
c.4519A>C (p.Lys1507Gln)
c.5326A>C (p.Lys1776Gln)
c.5428A>C (p.Lys1810Gln)
c.5371A>C (p.Lys1791Gln)
c.5347A>C (p.Lys1783Gln)
c.5302A>C (p.Lys1768Gln)
3g.53801193A>GCA353250368CACNA1Dc.5236A>G (p.Lys1746Glu)
n.2194-19A>G
n.611A>G
c.5176A>G (p.Lys1726Glu)
c.5131A>G (p.Lys1711Glu)
c.1316-19A>G
n.532A>G
n.603A>G
c.5203A>G (p.Lys1735Glu)
c.4255A>G (p.Lys1419Glu)
c.5431A>G (p.Lys1811Glu)
c.5320A>G (p.Lys1774Glu)
c.5242A>G (p.Lys1748Glu)
c.4894A>G (p.Lys1632Glu)
c.4519A>G (p.Lys1507Glu)
c.5326A>G (p.Lys1776Glu)
c.5428A>G (p.Lys1810Glu)
c.5371A>G (p.Lys1791Glu)
c.5347A>G (p.Lys1783Glu)
c.5302A>G (p.Lys1768Glu)
3g.53801193A>TCA353250370CACNA1Dc.5236A>T (p.Lys1746Ter)
n.2194-19A>T
n.611A>T
c.5176A>T (p.Lys1726Ter)
c.5131A>T (p.Lys1711Ter)
c.1316-19A>T
n.532A>T
n.603A>T
c.5203A>T (p.Lys1735Ter)
c.4255A>T (p.Lys1419Ter)
c.5431A>T (p.Lys1811Ter)
c.5320A>T (p.Lys1774Ter)
c.5242A>T (p.Lys1748Ter)
c.4894A>T (p.Lys1632Ter)
c.4519A>T (p.Lys1507Ter)
c.5326A>T (p.Lys1776Ter)
c.5428A>T (p.Lys1810Ter)
c.5371A>T (p.Lys1791Ter)
c.5347A>T (p.Lys1783Ter)
c.5302A>T (p.Lys1768Ter)
3g.53801194A>CCA353250374CACNA1Dc.5237A>C (p.Lys1746Thr)
n.2194-18A>C
n.612A>C
c.5177A>C (p.Lys1726Thr)
c.5132A>C (p.Lys1711Thr)
c.1316-18A>C
n.533A>C
n.604A>C
c.5204A>C (p.Lys1735Thr)
c.4256A>C (p.Lys1419Thr)
c.5432A>C (p.Lys1811Thr)
c.5321A>C (p.Lys1774Thr)
c.5243A>C (p.Lys1748Thr)
c.4895A>C (p.Lys1632Thr)
c.4520A>C (p.Lys1507Thr)
c.5327A>C (p.Lys1776Thr)
c.5429A>C (p.Lys1810Thr)
c.5372A>C (p.Lys1791Thr)
c.5348A>C (p.Lys1783Thr)
c.5303A>C (p.Lys1768Thr)
3g.53801194A>GCA353250378CACNA1Dc.5237A>G (p.Lys1746Arg)
n.2194-18A>G
n.612A>G
c.5177A>G (p.Lys1726Arg)
c.5132A>G (p.Lys1711Arg)
c.1316-18A>G
n.533A>G
n.604A>G
c.5204A>G (p.Lys1735Arg)
c.4256A>G (p.Lys1419Arg)
c.5432A>G (p.Lys1811Arg)
c.5321A>G (p.Lys1774Arg)
c.5243A>G (p.Lys1748Arg)
c.4895A>G (p.Lys1632Arg)
c.4520A>G (p.Lys1507Arg)
c.5327A>G (p.Lys1776Arg)
c.5429A>G (p.Lys1810Arg)
c.5372A>G (p.Lys1791Arg)
c.5348A>G (p.Lys1783Arg)
c.5303A>G (p.Lys1768Arg)
3g.53801194A>TCA353250380CACNA1Dc.5237A>T (p.Lys1746Ile)
n.2194-18A>T
n.612A>T
c.5177A>T (p.Lys1726Ile)
c.5132A>T (p.Lys1711Ile)
c.1316-18A>T
n.533A>T
n.604A>T
c.5204A>T (p.Lys1735Ile)
c.4256A>T (p.Lys1419Ile)
c.5432A>T (p.Lys1811Ile)
c.5321A>T (p.Lys1774Ile)
c.5243A>T (p.Lys1748Ile)
c.4895A>T (p.Lys1632Ile)
c.4520A>T (p.Lys1507Ile)
c.5327A>T (p.Lys1776Ile)
c.5429A>T (p.Lys1810Ile)
c.5372A>T (p.Lys1791Ile)
c.5348A>T (p.Lys1783Ile)
c.5303A>T (p.Lys1768Ile)
3g.53801195A>CCA353250383CACNA1Dc.5238A>C (p.Lys1746Asn)
n.2194-17A>C
n.613A>C
c.5178A>C (p.Lys1726Asn)
c.5133A>C (p.Lys1711Asn)
c.1316-17A>C
n.534A>C
n.605A>C
c.5205A>C (p.Lys1735Asn)
c.4257A>C (p.Lys1419Asn)
c.5433A>C (p.Lys1811Asn)
c.5322A>C (p.Lys1774Asn)
c.5244A>C (p.Lys1748Asn)
c.4896A>C (p.Lys1632Asn)
c.4521A>C (p.Lys1507Asn)
c.5328A>C (p.Lys1776Asn)
c.5430A>C (p.Lys1810Asn)
c.5373A>C (p.Lys1791Asn)
c.5349A>C (p.Lys1783Asn)
c.5304A>C (p.Lys1768Asn)
3g.53801195A>GCA433896006CACNA1Dc.5238A>G (p.Lys1746=)
n.2194-17A>G
n.613A>G
c.5178A>G (p.Lys1726=)
c.5133A>G (p.Lys1711=)
c.1316-17A>G
n.534A>G
n.605A>G
c.5205A>G (p.Lys1735=)
c.4257A>G (p.Lys1419=)
c.5433A>G (p.Lys1811=)
c.5322A>G (p.Lys1774=)
c.5244A>G (p.Lys1748=)
c.4896A>G (p.Lys1632=)
c.4521A>G (p.Lys1507=)
c.5328A>G (p.Lys1776=)
c.5430A>G (p.Lys1810=)
c.5373A>G (p.Lys1791=)
c.5349A>G (p.Lys1783=)
c.5304A>G (p.Lys1768=)
3g.53801195A>TCA353250386CACNA1Dc.5238A>T (p.Lys1746Asn)
n.2194-17A>T
n.613A>T
c.5178A>T (p.Lys1726Asn)
c.5133A>T (p.Lys1711Asn)
c.1316-17A>T
n.534A>T
n.605A>T
c.5205A>T (p.Lys1735Asn)
c.4257A>T (p.Lys1419Asn)
c.5433A>T (p.Lys1811Asn)
c.5322A>T (p.Lys1774Asn)
c.5244A>T (p.Lys1748Asn)
c.4896A>T (p.Lys1632Asn)
c.4521A>T (p.Lys1507Asn)
c.5328A>T (p.Lys1776Asn)
c.5430A>T (p.Lys1810Asn)
c.5373A>T (p.Lys1791Asn)
c.5349A>T (p.Lys1783Asn)
c.5304A>T (p.Lys1768Asn)
3g.53801196C>ACA353250391CACNA1Dc.5239C>A (p.Pro1747Thr)
n.2194-16C>A
n.614C>A
c.5179C>A (p.Pro1727Thr)
c.5134C>A (p.Pro1712Thr)
c.1316-16C>A
n.535C>A
n.606C>A
c.5206C>A (p.Pro1736Thr)
c.4258C>A (p.Pro1420Thr)
c.5434C>A (p.Pro1812Thr)
c.5323C>A (p.Pro1775Thr)
c.5245C>A (p.Pro1749Thr)
c.4897C>A (p.Pro1633Thr)
c.4522C>A (p.Pro1508Thr)
c.5329C>A (p.Pro1777Thr)
c.5431C>A (p.Pro1811Thr)
c.5374C>A (p.Pro1792Thr)
c.5350C>A (p.Pro1784Thr)
c.5305C>A (p.Pro1769Thr)
3g.53801196C>GCA353250395CACNA1Dc.5239C>G (p.Pro1747Ala)
n.2194-16C>G
n.614C>G
c.5179C>G (p.Pro1727Ala)
c.5134C>G (p.Pro1712Ala)
c.1316-16C>G
n.535C>G
n.606C>G
c.5206C>G (p.Pro1736Ala)
c.4258C>G (p.Pro1420Ala)
c.5434C>G (p.Pro1812Ala)
c.5323C>G (p.Pro1775Ala)
c.5245C>G (p.Pro1749Ala)
c.4897C>G (p.Pro1633Ala)
c.4522C>G (p.Pro1508Ala)
c.5329C>G (p.Pro1777Ala)
c.5431C>G (p.Pro1811Ala)
c.5374C>G (p.Pro1792Ala)
c.5350C>G (p.Pro1784Ala)
c.5305C>G (p.Pro1769Ala)
3g.53801196C>TCA353250389CACNA1Dc.5239C>T (p.Pro1747Ser)
n.2194-16C>T
n.614C>T
c.5179C>T (p.Pro1727Ser)
c.5134C>T (p.Pro1712Ser)
c.1316-16C>T
n.535C>T
n.606C>T
c.5206C>T (p.Pro1736Ser)
c.4258C>T (p.Pro1420Ser)
c.5434C>T (p.Pro1812Ser)
c.5323C>T (p.Pro1775Ser)
c.5245C>T (p.Pro1749Ser)
c.4897C>T (p.Pro1633Ser)
c.4522C>T (p.Pro1508Ser)
c.5329C>T (p.Pro1777Ser)
c.5431C>T (p.Pro1811Ser)
c.5374C>T (p.Pro1792Ser)
c.5350C>T (p.Pro1784Ser)
c.5305C>T (p.Pro1769Ser)
3g.53801197C>ACA353250398CACNA1Dc.5240C>A (p.Pro1747Gln)
n.2194-15C>A
n.615C>A
c.5180C>A (p.Pro1727Gln)
c.5135C>A (p.Pro1712Gln)
c.1316-15C>A
n.536C>A
n.607C>A
c.5207C>A (p.Pro1736Gln)
c.4259C>A (p.Pro1420Gln)
c.5435C>A (p.Pro1812Gln)
c.5324C>A (p.Pro1775Gln)
c.5246C>A (p.Pro1749Gln)
c.4898C>A (p.Pro1633Gln)
c.4523C>A (p.Pro1508Gln)
c.5330C>A (p.Pro1777Gln)
c.5432C>A (p.Pro1811Gln)
c.5375C>A (p.Pro1792Gln)
c.5351C>A (p.Pro1784Gln)
c.5306C>A (p.Pro1769Gln)
3g.53801197C=CA1365484162CACNA1Dc.5240C= (p.Pro1747=)
n.2194-15C=
n.615C=
c.5180C= (p.Pro1727=)
c.5135C= (p.Pro1712=)
c.1316-15C=
n.536C=
n.607C=
c.5207C= (p.Pro1736=)
c.4259C= (p.Pro1420=)
c.5435C= (p.Pro1812=)
c.5324C= (p.Pro1775=)
c.5246C= (p.Pro1749=)
c.4898C= (p.Pro1633=)
c.4523C= (p.Pro1508=)
c.5330C= (p.Pro1777=)
c.5432C= (p.Pro1811=)
c.5375C= (p.Pro1792=)
c.5351C= (p.Pro1784=)
c.5306C= (p.Pro1769=)
3g.53801197C>GCA353250405CACNA1Dc.5240C>G (p.Pro1747Arg)
n.2194-15C>G
n.615C>G
c.5180C>G (p.Pro1727Arg)
c.5135C>G (p.Pro1712Arg)
c.1316-15C>G
n.536C>G
n.607C>G
c.5207C>G (p.Pro1736Arg)
c.4259C>G (p.Pro1420Arg)
c.5435C>G (p.Pro1812Arg)
c.5324C>G (p.Pro1775Arg)
c.5246C>G (p.Pro1749Arg)
c.4898C>G (p.Pro1633Arg)
c.4523C>G (p.Pro1508Arg)
c.5330C>G (p.Pro1777Arg)
c.5432C>G (p.Pro1811Arg)
c.5375C>G (p.Pro1792Arg)
c.5351C>G (p.Pro1784Arg)
c.5306C>G (p.Pro1769Arg)
3g.53801197C>TCA2455086CACNA1Dc.5240C>T (p.Pro1747Leu)
n.2194-15C>T
n.615C>T
c.5180C>T (p.Pro1727Leu)
c.5135C>T (p.Pro1712Leu)
c.1316-15C>T
n.536C>T
n.607C>T
c.5207C>T (p.Pro1736Leu)
c.4259C>T (p.Pro1420Leu)
c.5435C>T (p.Pro1812Leu)
c.5324C>T (p.Pro1775Leu)
c.5246C>T (p.Pro1749Leu)
c.4898C>T (p.Pro1633Leu)
c.4523C>T (p.Pro1508Leu)
c.5330C>T (p.Pro1777Leu)
c.5432C>T (p.Pro1811Leu)
c.5375C>T (p.Pro1792Leu)
c.5351C>T (p.Pro1784Leu)
c.5306C>T (p.Pro1769Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.53801198G>ACA2455087CACNA1Dc.5241G>A (p.Pro1747=)
n.2194-14G>A
n.616G>A
c.5181G>A (p.Pro1727=)
c.5136G>A (p.Pro1712=)
c.1316-14G>A
n.537G>A
n.608G>A
c.5208G>A (p.Pro1736=)
c.4260G>A (p.Pro1420=)
c.5436G>A (p.Pro1812=)
c.5325G>A (p.Pro1775=)
c.5247G>A (p.Pro1749=)
c.4899G>A (p.Pro1633=)
c.4524G>A (p.Pro1508=)
c.5331G>A (p.Pro1777=)
c.5433G>A (p.Pro1811=)
c.5376G>A (p.Pro1792=)
c.5352G>A (p.Pro1784=)
c.5307G>A (p.Pro1769=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
3g.53801198G>CCA433896010CACNA1Dc.5241G>C (p.Pro1747=)
n.2194-14G>C
n.616G>C
c.5181G>C (p.Pro1727=)
c.5136G>C (p.Pro1712=)
c.1316-14G>C
n.537G>C
n.608G>C
c.5208G>C (p.Pro1736=)
c.4260G>C (p.Pro1420=)
c.5436G>C (p.Pro1812=)
c.5325G>C (p.Pro1775=)
c.5247G>C (p.Pro1749=)
c.4899G>C (p.Pro1633=)
c.4524G>C (p.Pro1508=)
c.5331G>C (p.Pro1777=)
c.5433G>C (p.Pro1811=)
c.5376G>C (p.Pro1792=)
c.5352G>C (p.Pro1784=)
c.5307G>C (p.Pro1769=)
3g.53801198G=CA1365484163CACNA1Dc.5241G= (p.Pro1747=)
n.2194-14G=
n.616G=
c.5181G= (p.Pro1727=)
c.5136G= (p.Pro1712=)
c.1316-14G=
n.537G=
n.608G=
c.5208G= (p.Pro1736=)
c.4260G= (p.Pro1420=)
c.5436G= (p.Pro1812=)
c.5325G= (p.Pro1775=)
c.5247G= (p.Pro1749=)
c.4899G= (p.Pro1633=)
c.4524G= (p.Pro1508=)
c.5331G= (p.Pro1777=)
c.5433G= (p.Pro1811=)
c.5376G= (p.Pro1792=)
c.5352G= (p.Pro1784=)
c.5307G= (p.Pro1769=)
3g.53801198G>TCA433896015CACNA1Dc.5241G>T (p.Pro1747=)
n.2194-14G>T
n.616G>T
c.5181G>T (p.Pro1727=)
c.5136G>T (p.Pro1712=)
c.1316-14G>T
n.537G>T
n.608G>T
c.5208G>T (p.Pro1736=)
c.4260G>T (p.Pro1420=)
c.5436G>T (p.Pro1812=)
c.5325G>T (p.Pro1775=)
c.5247G>T (p.Pro1749=)
c.4899G>T (p.Pro1633=)
c.4524G>T (p.Pro1508=)
c.5331G>T (p.Pro1777=)
c.5433G>T (p.Pro1811=)
c.5376G>T (p.Pro1792=)
c.5352G>T (p.Pro1784=)
c.5307G>T (p.Pro1769=)
 dbSNP
3g.53801199C>ACA353250412CACNA1Dc.5242C>A (p.Leu1748Met)
n.2194-13C>A
n.617C>A
c.5182C>A (p.Leu1728Met)
c.5137C>A (p.Leu1713Met)
c.1316-13C>A
n.538C>A
n.609C>A
c.5209C>A (p.Leu1737Met)
c.4261C>A (p.Leu1421Met)
c.5437C>A (p.Leu1813Met)
c.5326C>A (p.Leu1776Met)
c.5248C>A (p.Leu1750Met)
c.4900C>A (p.Leu1634Met)
c.4525C>A (p.Leu1509Met)
c.5332C>A (p.Leu1778Met)
c.5434C>A (p.Leu1812Met)
c.5377C>A (p.Leu1793Met)
c.5353C>A (p.Leu1785Met)
c.5308C>A (p.Leu1770Met)
3g.53801199C>GCA353250413CACNA1Dc.5242C>G (p.Leu1748Val)
n.2194-13C>G
n.617C>G
c.5182C>G (p.Leu1728Val)
c.5137C>G (p.Leu1713Val)
c.1316-13C>G
n.538C>G
n.609C>G
c.5209C>G (p.Leu1737Val)
c.4261C>G (p.Leu1421Val)
c.5437C>G (p.Leu1813Val)
c.5326C>G (p.Leu1776Val)
c.5248C>G (p.Leu1750Val)
c.4900C>G (p.Leu1634Val)
c.4525C>G (p.Leu1509Val)
c.5332C>G (p.Leu1778Val)
c.5434C>G (p.Leu1812Val)
c.5377C>G (p.Leu1793Val)
c.5353C>G (p.Leu1785Val)
c.5308C>G (p.Leu1770Val)
3g.53801199C>TCA433896017CACNA1Dc.5242C>T (p.Leu1748=)
n.2194-13C>T
n.617C>T
c.5182C>T (p.Leu1728=)
c.5137C>T (p.Leu1713=)
c.1316-13C>T
n.538C>T
n.609C>T
c.5209C>T (p.Leu1737=)
c.4261C>T (p.Leu1421=)
c.5437C>T (p.Leu1813=)
c.5326C>T (p.Leu1776=)
c.5248C>T (p.Leu1750=)
c.4900C>T (p.Leu1634=)
c.4525C>T (p.Leu1509=)
c.5332C>T (p.Leu1778=)
c.5434C>T (p.Leu1812=)
c.5377C>T (p.Leu1793=)
c.5353C>T (p.Leu1785=)
c.5308C>T (p.Leu1770=)
3g.53801200T>ACA353250418CACNA1Dc.5243T>A (p.Leu1748Gln)
n.2194-12T>A
n.618T>A
c.5183T>A (p.Leu1728Gln)
c.5138T>A (p.Leu1713Gln)
c.1316-12T>A
n.539T>A
n.610T>A
c.5210T>A (p.Leu1737Gln)
c.4262T>A (p.Leu1421Gln)
c.5438T>A (p.Leu1813Gln)
c.5327T>A (p.Leu1776Gln)
c.5249T>A (p.Leu1750Gln)
c.4901T>A (p.Leu1634Gln)
c.4526T>A (p.Leu1509Gln)
c.5333T>A (p.Leu1778Gln)
c.5435T>A (p.Leu1812Gln)
c.5378T>A (p.Leu1793Gln)
c.5354T>A (p.Leu1785Gln)
c.5309T>A (p.Leu1770Gln)
3g.53801200T>CCA353250421CACNA1Dc.5243T>C (p.Leu1748Pro)
n.2194-12T>C
n.618T>C
c.5183T>C (p.Leu1728Pro)
c.5138T>C (p.Leu1713Pro)
c.1316-12T>C
n.539T>C
n.610T>C
c.5210T>C (p.Leu1737Pro)
c.4262T>C (p.Leu1421Pro)
c.5438T>C (p.Leu1813Pro)
c.5327T>C (p.Leu1776Pro)
c.5249T>C (p.Leu1750Pro)
c.4901T>C (p.Leu1634Pro)
c.4526T>C (p.Leu1509Pro)
c.5333T>C (p.Leu1778Pro)
c.5435T>C (p.Leu1812Pro)
c.5378T>C (p.Leu1793Pro)
c.5354T>C (p.Leu1785Pro)
c.5309T>C (p.Leu1770Pro)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.53801200T>GCA353250422CACNA1Dc.5243T>G (p.Leu1748Arg)
n.2194-12T>G
n.618T>G
c.5183T>G (p.Leu1728Arg)
c.5138T>G (p.Leu1713Arg)
c.1316-12T>G
n.539T>G
n.610T>G
c.5210T>G (p.Leu1737Arg)
c.4262T>G (p.Leu1421Arg)
c.5438T>G (p.Leu1813Arg)
c.5327T>G (p.Leu1776Arg)
c.5249T>G (p.Leu1750Arg)
c.4901T>G (p.Leu1634Arg)
c.4526T>G (p.Leu1509Arg)
c.5333T>G (p.Leu1778Arg)
c.5435T>G (p.Leu1812Arg)
c.5378T>G (p.Leu1793Arg)
c.5354T>G (p.Leu1785Arg)
c.5309T>G (p.Leu1770Arg)
3g.53801200T=CA1365484164CACNA1Dc.5243T= (p.Leu1748=)
n.2194-12T=
n.618T=
c.5183T= (p.Leu1728=)
c.5138T= (p.Leu1713=)
c.1316-12T=
n.539T=
n.610T=
c.5210T= (p.Leu1737=)
c.4262T= (p.Leu1421=)
c.5438T= (p.Leu1813=)
c.5327T= (p.Leu1776=)
c.5249T= (p.Leu1750=)
c.4901T= (p.Leu1634=)
c.4526T= (p.Leu1509=)
c.5333T= (p.Leu1778=)
c.5435T= (p.Leu1812=)
c.5378T= (p.Leu1793=)
c.5354T= (p.Leu1785=)
c.5309T= (p.Leu1770=)
3g.53801201G>ACA433896018CACNA1Dc.5244G>A (p.Leu1748=)
n.2194-11G>A
n.619G>A
c.5184G>A (p.Leu1728=)
c.5139G>A (p.Leu1713=)
c.1316-11G>A
n.540G>A
n.611G>A
c.5211G>A (p.Leu1737=)
c.4263G>A (p.Leu1421=)
c.5439G>A (p.Leu1813=)
c.5328G>A (p.Leu1776=)
c.5250G>A (p.Leu1750=)
c.4902G>A (p.Leu1634=)
c.4527G>A (p.Leu1509=)
c.5334G>A (p.Leu1778=)
c.5436G>A (p.Leu1812=)
c.5379G>A (p.Leu1793=)
c.5355G>A (p.Leu1785=)
c.5310G>A (p.Leu1770=)
 gnomAD v4
3g.53801201G>CCA433896020CACNA1Dc.5244G>C (p.Leu1748=)
n.2194-11G>C
n.619G>C
c.5184G>C (p.Leu1728=)
c.5139G>C (p.Leu1713=)
c.1316-11G>C
n.540G>C
n.611G>C
c.5211G>C (p.Leu1737=)
c.4263G>C (p.Leu1421=)
c.5439G>C (p.Leu1813=)
c.5328G>C (p.Leu1776=)
c.5250G>C (p.Leu1750=)
c.4902G>C (p.Leu1634=)
c.4527G>C (p.Leu1509=)
c.5334G>C (p.Leu1778=)
c.5436G>C (p.Leu1812=)
c.5379G>C (p.Leu1793=)
c.5355G>C (p.Leu1785=)
c.5310G>C (p.Leu1770=)
3g.53801201G>TCA433896023CACNA1Dc.5244G>T (p.Leu1748=)
n.2194-11G>T
n.619G>T
c.5184G>T (p.Leu1728=)
c.5139G>T (p.Leu1713=)
c.1316-11G>T
n.540G>T
n.611G>T
c.5211G>T (p.Leu1737=)
c.4263G>T (p.Leu1421=)
c.5439G>T (p.Leu1813=)
c.5328G>T (p.Leu1776=)
c.5250G>T (p.Leu1750=)
c.4902G>T (p.Leu1634=)
c.4527G>T (p.Leu1509=)
c.5334G>T (p.Leu1778=)
c.5436G>T (p.Leu1812=)
c.5379G>T (p.Leu1793=)
c.5355G>T (p.Leu1785=)
c.5310G>T (p.Leu1770=)
3g.53801202T>ACA353250426CACNA1Dc.5245T>A (p.Phe1749Ile)
n.2194-10T>A
n.620T>A
c.5185T>A (p.Phe1729Ile)
c.5140T>A (p.Phe1714Ile)
c.1316-10T>A
n.541T>A
n.612T>A
c.5212T>A (p.Phe1738Ile)
c.4264T>A (p.Phe1422Ile)
c.5440T>A (p.Phe1814Ile)
c.5329T>A (p.Phe1777Ile)
c.5251T>A (p.Phe1751Ile)
c.4903T>A (p.Phe1635Ile)
c.4528T>A (p.Phe1510Ile)
c.5335T>A (p.Phe1779Ile)
c.5437T>A (p.Phe1813Ile)
c.5380T>A (p.Phe1794Ile)
c.5356T>A (p.Phe1786Ile)
c.5311T>A (p.Phe1771Ile)
3g.53801202T>CCA353250428CACNA1Dc.5245T>C (p.Phe1749Leu)
n.2194-10T>C
n.620T>C
c.5185T>C (p.Phe1729Leu)
c.5140T>C (p.Phe1714Leu)
c.1316-10T>C
n.541T>C
n.612T>C
c.5212T>C (p.Phe1738Leu)
c.4264T>C (p.Phe1422Leu)
c.5440T>C (p.Phe1814Leu)
c.5329T>C (p.Phe1777Leu)
c.5251T>C (p.Phe1751Leu)
c.4903T>C (p.Phe1635Leu)
c.4528T>C (p.Phe1510Leu)
c.5335T>C (p.Phe1779Leu)
c.5437T>C (p.Phe1813Leu)
c.5380T>C (p.Phe1794Leu)
c.5356T>C (p.Phe1786Leu)
c.5311T>C (p.Phe1771Leu)
3g.53801202T>GCA353250432CACNA1Dc.5245T>G (p.Phe1749Val)
n.2194-10T>G
n.620T>G
c.5185T>G (p.Phe1729Val)
c.5140T>G (p.Phe1714Val)
c.1316-10T>G
n.541T>G
n.612T>G
c.5212T>G (p.Phe1738Val)
c.4264T>G (p.Phe1422Val)
c.5440T>G (p.Phe1814Val)
c.5329T>G (p.Phe1777Val)
c.5251T>G (p.Phe1751Val)
c.4903T>G (p.Phe1635Val)
c.4528T>G (p.Phe1510Val)
c.5335T>G (p.Phe1779Val)
c.5437T>G (p.Phe1813Val)
c.5380T>G (p.Phe1794Val)
c.5356T>G (p.Phe1786Val)
c.5311T>G (p.Phe1771Val)
3g.53801203T>ACA353250437CACNA1Dc.5246T>A (p.Phe1749Tyr)
n.2194-9T>A
n.621T>A
c.5186T>A (p.Phe1729Tyr)
c.5141T>A (p.Phe1714Tyr)
c.1316-9T>A
n.542T>A
n.613T>A
c.5213T>A (p.Phe1738Tyr)
c.4265T>A (p.Phe1422Tyr)
c.5441T>A (p.Phe1814Tyr)
c.5330T>A (p.Phe1777Tyr)
c.5252T>A (p.Phe1751Tyr)
c.4904T>A (p.Phe1635Tyr)
c.4529T>A (p.Phe1510Tyr)
c.5336T>A (p.Phe1779Tyr)
c.5438T>A (p.Phe1813Tyr)
c.5381T>A (p.Phe1794Tyr)
c.5357T>A (p.Phe1786Tyr)
c.5312T>A (p.Phe1771Tyr)
3g.53801203T>CCA353250438CACNA1Dc.5246T>C (p.Phe1749Ser)
n.2194-9T>C
n.621T>C
c.5186T>C (p.Phe1729Ser)
c.5141T>C (p.Phe1714Ser)
c.1316-9T>C
n.542T>C
n.613T>C
c.5213T>C (p.Phe1738Ser)
c.4265T>C (p.Phe1422Ser)
c.5441T>C (p.Phe1814Ser)
c.5330T>C (p.Phe1777Ser)
c.5252T>C (p.Phe1751Ser)
c.4904T>C (p.Phe1635Ser)
c.4529T>C (p.Phe1510Ser)
c.5336T>C (p.Phe1779Ser)
c.5438T>C (p.Phe1813Ser)
c.5381T>C (p.Phe1794Ser)
c.5357T>C (p.Phe1786Ser)
c.5312T>C (p.Phe1771Ser)
3g.53801203T>GCA353250441CACNA1Dc.5246T>G (p.Phe1749Cys)
n.2194-9T>G
n.621T>G
c.5186T>G (p.Phe1729Cys)
c.5141T>G (p.Phe1714Cys)
c.1316-9T>G
n.542T>G
n.613T>G
c.5213T>G (p.Phe1738Cys)
c.4265T>G (p.Phe1422Cys)
c.5441T>G (p.Phe1814Cys)
c.5330T>G (p.Phe1777Cys)
c.5252T>G (p.Phe1751Cys)
c.4904T>G (p.Phe1635Cys)
c.4529T>G (p.Phe1510Cys)
c.5336T>G (p.Phe1779Cys)
c.5438T>G (p.Phe1813Cys)
c.5381T>G (p.Phe1794Cys)
c.5357T>G (p.Phe1786Cys)
c.5312T>G (p.Phe1771Cys)
3g.53801204T>ACA353250443CACNA1Dc.5247T>A (p.Phe1749Leu)
n.2194-8T>A
n.622T>A
c.5187T>A (p.Phe1729Leu)
c.5142T>A (p.Phe1714Leu)
c.1316-8T>A
n.543T>A
n.614T>A
c.5214T>A (p.Phe1738Leu)
c.4266T>A (p.Phe1422Leu)
c.5442T>A (p.Phe1814Leu)
c.5331T>A (p.Phe1777Leu)
c.5253T>A (p.Phe1751Leu)
c.4905T>A (p.Phe1635Leu)
c.4530T>A (p.Phe1510Leu)
c.5337T>A (p.Phe1779Leu)
c.5439T>A (p.Phe1813Leu)
c.5382T>A (p.Phe1794Leu)
c.5358T>A (p.Phe1786Leu)
c.5313T>A (p.Phe1771Leu)
3g.53801204T>CCA433896028CACNA1Dc.5247T>C (p.Phe1749=)
n.2194-8T>C
n.622T>C
c.5187T>C (p.Phe1729=)
c.5142T>C (p.Phe1714=)
c.1316-8T>C
n.543T>C
n.614T>C
c.5214T>C (p.Phe1738=)
c.4266T>C (p.Phe1422=)
c.5442T>C (p.Phe1814=)
c.5331T>C (p.Phe1777=)
c.5253T>C (p.Phe1751=)
c.4905T>C (p.Phe1635=)
c.4530T>C (p.Phe1510=)
c.5337T>C (p.Phe1779=)
c.5439T>C (p.Phe1813=)
c.5382T>C (p.Phe1794=)
c.5358T>C (p.Phe1786=)
c.5313T>C (p.Phe1771=)
 COSMIC COSMIC
3g.53801204T>GCA353250447CACNA1Dc.5247T>G (p.Phe1749Leu)
n.2194-8T>G
n.622T>G
c.5187T>G (p.Phe1729Leu)
c.5142T>G (p.Phe1714Leu)
c.1316-8T>G
n.543T>G
n.614T>G
c.5214T>G (p.Phe1738Leu)
c.4266T>G (p.Phe1422Leu)
c.5442T>G (p.Phe1814Leu)
c.5331T>G (p.Phe1777Leu)
c.5253T>G (p.Phe1751Leu)
c.4905T>G (p.Phe1635Leu)
c.4530T>G (p.Phe1510Leu)
c.5337T>G (p.Phe1779Leu)
c.5439T>G (p.Phe1813Leu)
c.5382T>G (p.Phe1794Leu)
c.5358T>G (p.Phe1786Leu)
c.5313T>G (p.Phe1771Leu)
3g.53801205C>ACA353250451CACNA1Dc.5248C>A (p.Pro1750Thr)
n.2194-7C>A
n.623C>A
c.5188C>A (p.Pro1730Thr)
c.5143C>A (p.Pro1715Thr)
c.1316-7C>A
n.544C>A
n.615C>A
c.5215C>A (p.Pro1739Thr)
c.4267C>A (p.Pro1423Thr)
c.5443C>A (p.Pro1815Thr)
c.5332C>A (p.Pro1778Thr)
c.5254C>A (p.Pro1752Thr)
c.4906C>A (p.Pro1636Thr)
c.4531C>A (p.Pro1511Thr)
c.5338C>A (p.Pro1780Thr)
c.5440C>A (p.Pro1814Thr)
c.5383C>A (p.Pro1795Thr)
c.5359C>A (p.Pro1787Thr)
c.5314C>A (p.Pro1772Thr)
3g.53801205C=CA1365484165CACNA1Dc.5248C= (p.Pro1750=)
n.2194-7C=
n.623C=
c.5188C= (p.Pro1730=)
c.5143C= (p.Pro1715=)
c.1316-7C=
n.544C=
n.615C=
c.5215C= (p.Pro1739=)
c.4267C= (p.Pro1423=)
c.5443C= (p.Pro1815=)
c.5332C= (p.Pro1778=)
c.5254C= (p.Pro1752=)
c.4906C= (p.Pro1636=)
c.4531C= (p.Pro1511=)
c.5338C= (p.Pro1780=)
c.5440C= (p.Pro1814=)
c.5383C= (p.Pro1795=)
c.5359C= (p.Pro1787=)
c.5314C= (p.Pro1772=)
3g.53801205C>GCA353250452CACNA1Dc.5248C>G (p.Pro1750Ala)
n.2194-7C>G
n.623C>G
c.5188C>G (p.Pro1730Ala)
c.5143C>G (p.Pro1715Ala)
c.1316-7C>G
n.544C>G
n.615C>G
c.5215C>G (p.Pro1739Ala)
c.4267C>G (p.Pro1423Ala)
c.5443C>G (p.Pro1815Ala)
c.5332C>G (p.Pro1778Ala)
c.5254C>G (p.Pro1752Ala)
c.4906C>G (p.Pro1636Ala)
c.4531C>G (p.Pro1511Ala)
c.5338C>G (p.Pro1780Ala)
c.5440C>G (p.Pro1814Ala)
c.5383C>G (p.Pro1795Ala)
c.5359C>G (p.Pro1787Ala)
c.5314C>G (p.Pro1772Ala)
3g.53801205C>TCA353250456CACNA1Dc.5248C>T (p.Pro1750Ser)
n.2194-7C>T
n.623C>T
c.5188C>T (p.Pro1730Ser)
c.5143C>T (p.Pro1715Ser)
c.1316-7C>T
n.544C>T
n.615C>T
c.5215C>T (p.Pro1739Ser)
c.4267C>T (p.Pro1423Ser)
c.5443C>T (p.Pro1815Ser)
c.5332C>T (p.Pro1778Ser)
c.5254C>T (p.Pro1752Ser)
c.4906C>T (p.Pro1636Ser)
c.4531C>T (p.Pro1511Ser)
c.5338C>T (p.Pro1780Ser)
c.5440C>T (p.Pro1814Ser)
c.5383C>T (p.Pro1795Ser)
c.5359C>T (p.Pro1787Ser)
c.5314C>T (p.Pro1772Ser)
 dbSNP gnomAD v2 gnomAD v4
3g.53801206C>ACA353250459CACNA1Dc.5249C>A (p.Pro1750His)
n.2194-6C>A
n.624C>A
c.5189C>A (p.Pro1730His)
c.5144C>A (p.Pro1715His)
c.1316-6C>A
n.545C>A
n.616C>A
c.5216C>A (p.Pro1739His)
c.4268C>A (p.Pro1423His)
c.5444C>A (p.Pro1815His)
c.5333C>A (p.Pro1778His)
c.5255C>A (p.Pro1752His)
c.4907C>A (p.Pro1636His)
c.4532C>A (p.Pro1511His)
c.5339C>A (p.Pro1780His)
c.5441C>A (p.Pro1814His)
c.5384C>A (p.Pro1795His)
c.5360C>A (p.Pro1787His)
c.5315C>A (p.Pro1772His)
 COSMIC COSMIC
3g.53801206C>GCA353250462CACNA1Dc.5249C>G (p.Pro1750Arg)
n.2194-6C>G
n.624C>G
c.5189C>G (p.Pro1730Arg)
c.5144C>G (p.Pro1715Arg)
c.1316-6C>G
n.545C>G
n.616C>G
c.5216C>G (p.Pro1739Arg)
c.4268C>G (p.Pro1423Arg)
c.5444C>G (p.Pro1815Arg)
c.5333C>G (p.Pro1778Arg)
c.5255C>G (p.Pro1752Arg)
c.4907C>G (p.Pro1636Arg)
c.4532C>G (p.Pro1511Arg)
c.5339C>G (p.Pro1780Arg)
c.5441C>G (p.Pro1814Arg)
c.5384C>G (p.Pro1795Arg)
c.5360C>G (p.Pro1787Arg)
c.5315C>G (p.Pro1772Arg)
3g.53801206C>TCA353250464CACNA1Dc.5249C>T (p.Pro1750Leu)
n.2194-6C>T
n.624C>T
c.5189C>T (p.Pro1730Leu)
c.5144C>T (p.Pro1715Leu)
c.1316-6C>T
n.545C>T
n.616C>T
c.5216C>T (p.Pro1739Leu)
c.4268C>T (p.Pro1423Leu)
c.5444C>T (p.Pro1815Leu)
c.5333C>T (p.Pro1778Leu)
c.5255C>T (p.Pro1752Leu)
c.4907C>T (p.Pro1636Leu)
c.4532C>T (p.Pro1511Leu)
c.5339C>T (p.Pro1780Leu)
c.5441C>T (p.Pro1814Leu)
c.5384C>T (p.Pro1795Leu)
c.5360C>T (p.Pro1787Leu)
c.5315C>T (p.Pro1772Leu)
3g.53801207T>ACA433896032CACNA1Dc.5250T>A (p.Pro1750=)
n.2194-5T>A
n.625T>A
c.5190T>A (p.Pro1730=)
c.5145T>A (p.Pro1715=)
c.1316-5T>A
n.546T>A
n.617T>A
c.5217T>A (p.Pro1739=)
c.4269T>A (p.Pro1423=)
c.5445T>A (p.Pro1815=)
c.5334T>A (p.Pro1778=)
c.5256T>A (p.Pro1752=)
c.4908T>A (p.Pro1636=)
c.4533T>A (p.Pro1511=)
c.5340T>A (p.Pro1780=)
c.5442T>A (p.Pro1814=)
c.5385T>A (p.Pro1795=)
c.5361T>A (p.Pro1787=)
c.5316T>A (p.Pro1772=)
3g.53801207T>CCA433896033CACNA1Dc.5250T>C (p.Pro1750=)
n.2194-5T>C
n.625T>C
c.5190T>C (p.Pro1730=)
c.5145T>C (p.Pro1715=)
c.1316-5T>C
n.546T>C
n.617T>C
c.5217T>C (p.Pro1739=)
c.4269T>C (p.Pro1423=)
c.5445T>C (p.Pro1815=)
c.5334T>C (p.Pro1778=)
c.5256T>C (p.Pro1752=)
c.4908T>C (p.Pro1636=)
c.4533T>C (p.Pro1511=)
c.5340T>C (p.Pro1780=)
c.5442T>C (p.Pro1814=)
c.5385T>C (p.Pro1795=)
c.5361T>C (p.Pro1787=)
c.5316T>C (p.Pro1772=)
3g.53801207T>GCA433896035CACNA1Dc.5250T>G (p.Pro1750=)
n.2194-5T>G
n.625T>G
c.5190T>G (p.Pro1730=)
c.5145T>G (p.Pro1715=)
c.1316-5T>G
n.546T>G
n.617T>G
c.5217T>G (p.Pro1739=)
c.4269T>G (p.Pro1423=)
c.5445T>G (p.Pro1815=)
c.5334T>G (p.Pro1778=)
c.5256T>G (p.Pro1752=)
c.4908T>G (p.Pro1636=)
c.4533T>G (p.Pro1511=)
c.5340T>G (p.Pro1780=)
c.5442T>G (p.Pro1814=)
c.5385T>G (p.Pro1795=)
c.5361T>G (p.Pro1787=)
c.5316T>G (p.Pro1772=)
3g.53801208C>ACA353250468CACNA1Dc.5251C>A (p.Pro1751Thr)
n.2194-4C>A
n.626C>A
c.5191C>A (p.Pro1731Thr)
c.5146C>A (p.Pro1716Thr)
c.1316-4C>A
n.547C>A
n.618C>A
c.5218C>A (p.Pro1740Thr)
c.4270C>A (p.Pro1424Thr)
c.5446C>A (p.Pro1816Thr)
c.5335C>A (p.Pro1779Thr)
c.5257C>A (p.Pro1753Thr)
c.4909C>A (p.Pro1637Thr)
c.4534C>A (p.Pro1512Thr)
c.5341C>A (p.Pro1781Thr)
c.5443C>A (p.Pro1815Thr)
c.5386C>A (p.Pro1796Thr)
c.5362C>A (p.Pro1788Thr)
c.5317C>A (p.Pro1773Thr)
3g.53801208C>GCA353250470CACNA1Dc.5251C>G (p.Pro1751Ala)
n.2194-4C>G
n.626C>G
c.5191C>G (p.Pro1731Ala)
c.5146C>G (p.Pro1716Ala)
c.1316-4C>G
n.547C>G
n.618C>G
c.5218C>G (p.Pro1740Ala)
c.4270C>G (p.Pro1424Ala)
c.5446C>G (p.Pro1816Ala)
c.5335C>G (p.Pro1779Ala)
c.5257C>G (p.Pro1753Ala)
c.4909C>G (p.Pro1637Ala)
c.4534C>G (p.Pro1512Ala)
c.5341C>G (p.Pro1781Ala)
c.5443C>G (p.Pro1815Ala)
c.5386C>G (p.Pro1796Ala)
c.5362C>G (p.Pro1788Ala)
c.5317C>G (p.Pro1773Ala)
3g.53801208C>TCA353250475CACNA1Dc.5251C>T (p.Pro1751Ser)
n.2194-4C>T
n.626C>T
c.5191C>T (p.Pro1731Ser)
c.5146C>T (p.Pro1716Ser)
c.1316-4C>T
n.547C>T
n.618C>T
c.5218C>T (p.Pro1740Ser)
c.4270C>T (p.Pro1424Ser)
c.5446C>T (p.Pro1816Ser)
c.5335C>T (p.Pro1779Ser)
c.5257C>T (p.Pro1753Ser)
c.4909C>T (p.Pro1637Ser)
c.4534C>T (p.Pro1512Ser)
c.5341C>T (p.Pro1781Ser)
c.5443C>T (p.Pro1815Ser)
c.5386C>T (p.Pro1796Ser)
c.5362C>T (p.Pro1788Ser)
c.5317C>T (p.Pro1773Ser)
 COSMIC COSMIC
3g.53801209C>ACA353250479CACNA1Dc.5252C>A (p.Pro1751Gln)
n.2194-3C>A
n.627C>A
c.5192C>A (p.Pro1731Gln)
c.5147C>A (p.Pro1716Gln)
c.1316-3C>A
n.548C>A
n.619C>A
c.5219C>A (p.Pro1740Gln)
c.4271C>A (p.Pro1424Gln)
c.5447C>A (p.Pro1816Gln)
c.5336C>A (p.Pro1779Gln)
c.5258C>A (p.Pro1753Gln)
c.4910C>A (p.Pro1637Gln)
c.4535C>A (p.Pro1512Gln)
c.5342C>A (p.Pro1781Gln)
c.5444C>A (p.Pro1815Gln)
c.5387C>A (p.Pro1796Gln)
c.5363C>A (p.Pro1788Gln)
c.5318C>A (p.Pro1773Gln)
3g.53801209C>GCA353250484CACNA1Dc.5252C>G (p.Pro1751Arg)
n.2194-3C>G
n.627C>G
c.5192C>G (p.Pro1731Arg)
c.5147C>G (p.Pro1716Arg)
c.1316-3C>G
n.548C>G
n.619C>G
c.5219C>G (p.Pro1740Arg)
c.4271C>G (p.Pro1424Arg)
c.5447C>G (p.Pro1816Arg)
c.5336C>G (p.Pro1779Arg)
c.5258C>G (p.Pro1753Arg)
c.4910C>G (p.Pro1637Arg)
c.4535C>G (p.Pro1512Arg)
c.5342C>G (p.Pro1781Arg)
c.5444C>G (p.Pro1815Arg)
c.5387C>G (p.Pro1796Arg)
c.5363C>G (p.Pro1788Arg)
c.5318C>G (p.Pro1773Arg)
3g.53801209C>TCA353250485CACNA1Dc.5252C>T (p.Pro1751Leu)
n.2194-3C>T
n.627C>T
c.5192C>T (p.Pro1731Leu)
c.5147C>T (p.Pro1716Leu)
c.1316-3C>T
n.548C>T
n.619C>T
c.5219C>T (p.Pro1740Leu)
c.4271C>T (p.Pro1424Leu)
c.5447C>T (p.Pro1816Leu)
c.5336C>T (p.Pro1779Leu)
c.5258C>T (p.Pro1753Leu)
c.4910C>T (p.Pro1637Leu)
c.4535C>T (p.Pro1512Leu)
c.5342C>T (p.Pro1781Leu)
c.5444C>T (p.Pro1815Leu)
c.5387C>T (p.Pro1796Leu)
c.5363C>T (p.Pro1788Leu)
c.5318C>T (p.Pro1773Leu)
 gnomAD v4 COSMIC COSMIC
3g.53801210A>CCA433896040CACNA1Dc.5253A>C (p.Pro1751=)
n.2194-2A>C
n.628A>C
c.5193A>C (p.Pro1731=)
c.5148A>C (p.Pro1716=)
c.1316-2A>C
n.549A>C
n.620A>C
c.5220A>C (p.Pro1740=)
c.4272A>C (p.Pro1424=)
c.5448A>C (p.Pro1816=)
c.5337A>C (p.Pro1779=)
c.5259A>C (p.Pro1753=)
c.4911A>C (p.Pro1637=)
c.4536A>C (p.Pro1512=)
c.5343A>C (p.Pro1781=)
c.5445A>C (p.Pro1815=)
c.5388A>C (p.Pro1796=)
c.5364A>C (p.Pro1788=)
c.5319A>C (p.Pro1773=)
3g.53801210A>GCA433896041CACNA1Dc.5253A>G (p.Pro1751=)
n.2194-2A>G
n.628A>G
c.5193A>G (p.Pro1731=)
c.5148A>G (p.Pro1716=)
c.1316-2A>G
n.549A>G
n.620A>G
c.5220A>G (p.Pro1740=)
c.4272A>G (p.Pro1424=)
c.5448A>G (p.Pro1816=)
c.5337A>G (p.Pro1779=)
c.5259A>G (p.Pro1753=)
c.4911A>G (p.Pro1637=)
c.4536A>G (p.Pro1512=)
c.5343A>G (p.Pro1781=)
c.5445A>G (p.Pro1815=)
c.5388A>G (p.Pro1796=)
c.5364A>G (p.Pro1788=)
c.5319A>G (p.Pro1773=)
3g.53801210A>TCA433896042CACNA1Dc.5253A>T (p.Pro1751=)
n.2194-2A>T
n.628A>T
c.5193A>T (p.Pro1731=)
c.5148A>T (p.Pro1716=)
c.1316-2A>T
n.549A>T
n.620A>T
c.5220A>T (p.Pro1740=)
c.4272A>T (p.Pro1424=)
c.5448A>T (p.Pro1816=)
c.5337A>T (p.Pro1779=)
c.5259A>T (p.Pro1753=)
c.4911A>T (p.Pro1637=)
c.4536A>T (p.Pro1512=)
c.5343A>T (p.Pro1781=)
c.5445A>T (p.Pro1815=)
c.5388A>T (p.Pro1796=)
c.5364A>T (p.Pro1788=)
c.5319A>T (p.Pro1773=)
3g.53801211G>ACA353250487CACNA1Dc.5254G>A (p.Ala1752Thr)
n.2194-1G>A
n.629G>A
c.5194G>A (p.Ala1732Thr)
c.5149G>A (p.Ala1717Thr)
c.1316-1G>A
n.550G>A
n.621G>A
c.5221G>A (p.Ala1741Thr)
c.4273G>A (p.Ala1425Thr)
c.5449G>A (p.Ala1817Thr)
c.5338G>A (p.Ala1780Thr)
c.5260G>A (p.Ala1754Thr)
c.4912G>A (p.Ala1638Thr)
c.4537G>A (p.Ala1513Thr)
c.5344G>A (p.Ala1782Thr)
c.5446G>A (p.Ala1816Thr)
c.5389G>A (p.Ala1797Thr)
c.5365G>A (p.Ala1789Thr)
c.5320G>A (p.Ala1774Thr)
 COSMIC COSMIC
3g.53801211G>CCA353250489CACNA1Dc.5254G>C (p.Ala1752Pro)
n.2194-1G>C
n.629G>C
c.5194G>C (p.Ala1732Pro)
c.5149G>C (p.Ala1717Pro)
c.1316-1G>C
n.550G>C
n.621G>C
c.5221G>C (p.Ala1741Pro)
c.4273G>C (p.Ala1425Pro)
c.5449G>C (p.Ala1817Pro)
c.5338G>C (p.Ala1780Pro)
c.5260G>C (p.Ala1754Pro)
c.4912G>C (p.Ala1638Pro)
c.4537G>C (p.Ala1513Pro)
c.5344G>C (p.Ala1782Pro)
c.5446G>C (p.Ala1816Pro)
c.5389G>C (p.Ala1797Pro)
c.5365G>C (p.Ala1789Pro)
c.5320G>C (p.Ala1774Pro)
3g.53801211G>TCA353250488CACNA1Dc.5254G>T (p.Ala1752Ser)
n.2194-1G>T
n.629G>T
c.5194G>T (p.Ala1732Ser)
c.5149G>T (p.Ala1717Ser)
c.1316-1G>T
n.550G>T
n.621G>T
c.5221G>T (p.Ala1741Ser)
c.4273G>T (p.Ala1425Ser)
c.5449G>T (p.Ala1817Ser)
c.5338G>T (p.Ala1780Ser)
c.5260G>T (p.Ala1754Ser)
c.4912G>T (p.Ala1638Ser)
c.4537G>T (p.Ala1513Ser)
c.5344G>T (p.Ala1782Ser)
c.5446G>T (p.Ala1816Ser)
c.5389G>T (p.Ala1797Ser)
c.5365G>T (p.Ala1789Ser)
c.5320G>T (p.Ala1774Ser)
 ClinVar dbSNP
3g.53801212C>ACA353250490CACNA1Dc.5255C>A (p.Ala1752Glu)
n.2194C>A
n.630C>A
c.5195C>A (p.Ala1732Glu)
c.5150C>A (p.Ala1717Glu)
c.1316C>A
n.551C>A
n.622C>A
c.5222C>A (p.Ala1741Glu)
c.4274C>A (p.Ala1425Glu)
c.5450C>A (p.Ala1817Glu)
c.5339C>A (p.Ala1780Glu)
c.5261C>A (p.Ala1754Glu)
c.4913C>A (p.Ala1638Glu)
c.4538C>A (p.Ala1513Glu)
c.5345C>A (p.Ala1782Glu)
c.5447C>A (p.Ala1816Glu)
c.5390C>A (p.Ala1797Glu)
c.5366C>A (p.Ala1789Glu)
c.5321C>A (p.Ala1774Glu)
3g.53801212C>GCA353250491CACNA1Dc.5255C>G (p.Ala1752Gly)
n.2194C>G
n.630C>G
c.5195C>G (p.Ala1732Gly)
c.5150C>G (p.Ala1717Gly)
c.1316C>G
n.551C>G
n.622C>G
c.5222C>G (p.Ala1741Gly)
c.4274C>G (p.Ala1425Gly)
c.5450C>G (p.Ala1817Gly)
c.5339C>G (p.Ala1780Gly)
c.5261C>G (p.Ala1754Gly)
c.4913C>G (p.Ala1638Gly)
c.4538C>G (p.Ala1513Gly)
c.5345C>G (p.Ala1782Gly)
c.5447C>G (p.Ala1816Gly)
c.5390C>G (p.Ala1797Gly)
c.5366C>G (p.Ala1789Gly)
c.5321C>G (p.Ala1774Gly)
3g.53801212C>TCA353250493CACNA1Dc.5255C>T (p.Ala1752Val)
n.2194C>T
n.630C>T
c.5195C>T (p.Ala1732Val)
c.5150C>T (p.Ala1717Val)
c.1316C>T
n.551C>T
n.622C>T
c.5222C>T (p.Ala1741Val)
c.4274C>T (p.Ala1425Val)
c.5450C>T (p.Ala1817Val)
c.5339C>T (p.Ala1780Val)
c.5261C>T (p.Ala1754Val)
c.4913C>T (p.Ala1638Val)
c.4538C>T (p.Ala1513Val)
c.5345C>T (p.Ala1782Val)
c.5447C>T (p.Ala1816Val)
c.5390C>T (p.Ala1797Val)
c.5366C>T (p.Ala1789Val)
c.5321C>T (p.Ala1774Val)
 COSMIC COSMIC
3g.53801213A>CCA433896049CACNA1Dc.5256A>C (p.Ala1752=)
n.2195A>C
n.631A>C
c.5196A>C (p.Ala1732=)
c.5151A>C (p.Ala1717=)
c.1317A>C
n.552A>C
n.623A>C
c.5223A>C (p.Ala1741=)
c.4275A>C (p.Ala1425=)
c.5451A>C (p.Ala1817=)
c.5340A>C (p.Ala1780=)
c.5262A>C (p.Ala1754=)
c.4914A>C (p.Ala1638=)
c.4539A>C (p.Ala1513=)
c.5346A>C (p.Ala1782=)
c.5448A>C (p.Ala1816=)
c.5391A>C (p.Ala1797=)
c.5367A>C (p.Ala1789=)
c.5322A>C (p.Ala1774=)
3g.53801213A>GCA433896051CACNA1Dc.5256A>G (p.Ala1752=)
n.2195A>G
n.631A>G
c.5196A>G (p.Ala1732=)
c.5151A>G (p.Ala1717=)
c.1317A>G
n.552A>G
n.623A>G
c.5223A>G (p.Ala1741=)
c.4275A>G (p.Ala1425=)
c.5451A>G (p.Ala1817=)
c.5340A>G (p.Ala1780=)
c.5262A>G (p.Ala1754=)
c.4914A>G (p.Ala1638=)
c.4539A>G (p.Ala1513=)
c.5346A>G (p.Ala1782=)
c.5448A>G (p.Ala1816=)
c.5391A>G (p.Ala1797=)
c.5367A>G (p.Ala1789=)
c.5322A>G (p.Ala1774=)
3g.53801213A>TCA433896053CACNA1Dc.5256A>T (p.Ala1752=)
n.2195A>T
n.631A>T
c.5196A>T (p.Ala1732=)
c.5151A>T (p.Ala1717=)
c.1317A>T
n.552A>T
n.623A>T
c.5223A>T (p.Ala1741=)
c.4275A>T (p.Ala1425=)
c.5451A>T (p.Ala1817=)
c.5340A>T (p.Ala1780=)
c.5262A>T (p.Ala1754=)
c.4914A>T (p.Ala1638=)
c.4539A>T (p.Ala1513=)
c.5346A>T (p.Ala1782=)
c.5448A>T (p.Ala1816=)
c.5391A>T (p.Ala1797=)
c.5367A>T (p.Ala1789=)
c.5322A>T (p.Ala1774=)
3g.53801214G>ACA353250498CACNA1Dc.5257G>A (p.Gly1753Arg)
n.2196G>A
n.632G>A
c.5197G>A (p.Gly1733Arg)
c.5152G>A (p.Gly1718Arg)
c.1318G>A
n.553G>A
n.624G>A
c.5224G>A (p.Gly1742Arg)
c.4276G>A (p.Gly1426Arg)
c.5452G>A (p.Gly1818Arg)
c.5341G>A (p.Gly1781Arg)
c.5263G>A (p.Gly1755Arg)
c.4915G>A (p.Gly1639Arg)
c.4540G>A (p.Gly1514Arg)
c.5347G>A (p.Gly1783Arg)
c.5449G>A (p.Gly1817Arg)
c.5392G>A (p.Gly1798Arg)
c.5368G>A (p.Gly1790Arg)
c.5323G>A (p.Gly1775Arg)
3g.53801214G>CCA353250505CACNA1Dc.5257G>C (p.Gly1753Arg)
n.2196G>C
n.632G>C
c.5197G>C (p.Gly1733Arg)
c.5152G>C (p.Gly1718Arg)
c.1318G>C
n.553G>C
n.624G>C
c.5224G>C (p.Gly1742Arg)
c.4276G>C (p.Gly1426Arg)
c.5452G>C (p.Gly1818Arg)
c.5341G>C (p.Gly1781Arg)
c.5263G>C (p.Gly1755Arg)
c.4915G>C (p.Gly1639Arg)
c.4540G>C (p.Gly1514Arg)
c.5347G>C (p.Gly1783Arg)
c.5449G>C (p.Gly1817Arg)
c.5392G>C (p.Gly1798Arg)
c.5368G>C (p.Gly1790Arg)
c.5323G>C (p.Gly1775Arg)
3g.53801214G>TCA353250509CACNA1Dc.5257G>T (p.Gly1753Ter)
n.2196G>T
n.632G>T
c.5197G>T (p.Gly1733Ter)
c.5152G>T (p.Gly1718Ter)
c.1318G>T
n.553G>T
n.624G>T
c.5224G>T (p.Gly1742Ter)
c.4276G>T (p.Gly1426Ter)
c.5452G>T (p.Gly1818Ter)
c.5341G>T (p.Gly1781Ter)
c.5263G>T (p.Gly1755Ter)
c.4915G>T (p.Gly1639Ter)
c.4540G>T (p.Gly1514Ter)
c.5347G>T (p.Gly1783Ter)
c.5449G>T (p.Gly1817Ter)
c.5392G>T (p.Gly1798Ter)
c.5368G>T (p.Gly1790Ter)
c.5323G>T (p.Gly1775Ter)
3g.53801215G>ACA353250512CACNA1Dc.5258G>A (p.Gly1753Glu)
n.2197G>A
n.633G>A
c.5198G>A (p.Gly1733Glu)
c.5153G>A (p.Gly1718Glu)
c.1319G>A
n.554G>A
n.625G>A
c.5225G>A (p.Gly1742Glu)
c.4277G>A (p.Gly1426Glu)
c.5453G>A (p.Gly1818Glu)
c.5342G>A (p.Gly1781Glu)
c.5264G>A (p.Gly1755Glu)
c.4916G>A (p.Gly1639Glu)
c.4541G>A (p.Gly1514Glu)
c.5348G>A (p.Gly1783Glu)
c.5450G>A (p.Gly1817Glu)
c.5393G>A (p.Gly1798Glu)
c.5369G>A (p.Gly1790Glu)
c.5324G>A (p.Gly1775Glu)
 gnomAD v4 COSMIC COSMIC
3g.53801215G>CCA353250516CACNA1Dc.5258G>C (p.Gly1753Ala)
n.2197G>C
n.633G>C
c.5198G>C (p.Gly1733Ala)
c.5153G>C (p.Gly1718Ala)
c.1319G>C
n.554G>C
n.625G>C
c.5225G>C (p.Gly1742Ala)
c.4277G>C (p.Gly1426Ala)
c.5453G>C (p.Gly1818Ala)
c.5342G>C (p.Gly1781Ala)
c.5264G>C (p.Gly1755Ala)
c.4916G>C (p.Gly1639Ala)
c.4541G>C (p.Gly1514Ala)
c.5348G>C (p.Gly1783Ala)
c.5450G>C (p.Gly1817Ala)
c.5393G>C (p.Gly1798Ala)
c.5369G>C (p.Gly1790Ala)
c.5324G>C (p.Gly1775Ala)
3g.53801215G>TCA353250518CACNA1Dc.5258G>T (p.Gly1753Val)
n.2197G>T
n.633G>T
c.5198G>T (p.Gly1733Val)
c.5153G>T (p.Gly1718Val)
c.1319G>T
n.554G>T
n.625G>T
c.5225G>T (p.Gly1742Val)
c.4277G>T (p.Gly1426Val)
c.5453G>T (p.Gly1818Val)
c.5342G>T (p.Gly1781Val)
c.5264G>T (p.Gly1755Val)
c.4916G>T (p.Gly1639Val)
c.4541G>T (p.Gly1514Val)
c.5348G>T (p.Gly1783Val)
c.5450G>T (p.Gly1817Val)
c.5393G>T (p.Gly1798Val)
c.5369G>T (p.Gly1790Val)
c.5324G>T (p.Gly1775Val)
3g.53801216A>CCA433896059CACNA1Dc.5259A>C (p.Gly1753=)
n.2198A>C
n.634A>C
c.5199A>C (p.Gly1733=)
c.5154A>C (p.Gly1718=)
c.1320A>C
n.555A>C
n.626A>C
c.5226A>C (p.Gly1742=)
c.4278A>C (p.Gly1426=)
c.5454A>C (p.Gly1818=)
c.5343A>C (p.Gly1781=)
c.5265A>C (p.Gly1755=)
c.4917A>C (p.Gly1639=)
c.4542A>C (p.Gly1514=)
c.5349A>C (p.Gly1783=)
c.5451A>C (p.Gly1817=)
c.5394A>C (p.Gly1798=)
c.5370A>C (p.Gly1790=)
c.5325A>C (p.Gly1775=)
3g.53801216A>GCA433896055CACNA1Dc.5259A>G (p.Gly1753=)
n.2198A>G
n.634A>G
c.5199A>G (p.Gly1733=)
c.5154A>G (p.Gly1718=)
c.1320A>G
n.555A>G
n.626A>G
c.5226A>G (p.Gly1742=)
c.4278A>G (p.Gly1426=)
c.5454A>G (p.Gly1818=)
c.5343A>G (p.Gly1781=)
c.5265A>G (p.Gly1755=)
c.4917A>G (p.Gly1639=)
c.4542A>G (p.Gly1514=)
c.5349A>G (p.Gly1783=)
c.5451A>G (p.Gly1817=)
c.5394A>G (p.Gly1798=)
c.5370A>G (p.Gly1790=)
c.5325A>G (p.Gly1775=)
3g.53801216A>TCA433896057CACNA1Dc.5259A>T (p.Gly1753=)
n.2198A>T
n.634A>T
c.5199A>T (p.Gly1733=)
c.5154A>T (p.Gly1718=)
c.1320A>T
n.555A>T
n.626A>T
c.5226A>T (p.Gly1742=)
c.4278A>T (p.Gly1426=)
c.5454A>T (p.Gly1818=)
c.5343A>T (p.Gly1781=)
c.5265A>T (p.Gly1755=)
c.4917A>T (p.Gly1639=)
c.4542A>T (p.Gly1514=)
c.5349A>T (p.Gly1783=)
c.5451A>T (p.Gly1817=)
c.5394A>T (p.Gly1798=)
c.5370A>T (p.Gly1790=)
c.5325A>T (p.Gly1775=)
3g.53801217A>CCA353250523CACNA1Dc.5260A>C (p.Asn1754His)
n.2199A>C
n.635A>C
c.5200A>C (p.Asn1734His)
c.5155A>C (p.Asn1719His)
c.1321A>C
n.556A>C
n.627A>C
c.5227A>C (p.Asn1743His)
c.4279A>C (p.Asn1427His)
c.5455A>C (p.Asn1819His)
c.5344A>C (p.Asn1782His)
c.5266A>C (p.Asn1756His)
c.4918A>C (p.Asn1640His)
c.4543A>C (p.Asn1515His)
c.5350A>C (p.Asn1784His)
c.5452A>C (p.Asn1818His)
c.5395A>C (p.Asn1799His)
c.5371A>C (p.Asn1791His)
c.5326A>C (p.Asn1776His)
3g.53801217A>GCA353250526CACNA1Dc.5260A>G (p.Asn1754Asp)
n.2199A>G
n.635A>G
c.5200A>G (p.Asn1734Asp)
c.5155A>G (p.Asn1719Asp)
c.1321A>G
n.556A>G
n.627A>G
c.5227A>G (p.Asn1743Asp)
c.4279A>G (p.Asn1427Asp)
c.5455A>G (p.Asn1819Asp)
c.5344A>G (p.Asn1782Asp)
c.5266A>G (p.Asn1756Asp)
c.4918A>G (p.Asn1640Asp)
c.4543A>G (p.Asn1515Asp)
c.5350A>G (p.Asn1784Asp)
c.5452A>G (p.Asn1818Asp)
c.5395A>G (p.Asn1799Asp)
c.5371A>G (p.Asn1791Asp)
c.5326A>G (p.Asn1776Asp)
3g.53801217A>TCA353250529CACNA1Dc.5260A>T (p.Asn1754Tyr)
n.2199A>T
n.635A>T
c.5200A>T (p.Asn1734Tyr)
c.5155A>T (p.Asn1719Tyr)
c.1321A>T
n.556A>T
n.627A>T
c.5227A>T (p.Asn1743Tyr)
c.4279A>T (p.Asn1427Tyr)
c.5455A>T (p.Asn1819Tyr)
c.5344A>T (p.Asn1782Tyr)
c.5266A>T (p.Asn1756Tyr)
c.4918A>T (p.Asn1640Tyr)
c.4543A>T (p.Asn1515Tyr)
c.5350A>T (p.Asn1784Tyr)
c.5452A>T (p.Asn1818Tyr)
c.5395A>T (p.Asn1799Tyr)
c.5371A>T (p.Asn1791Tyr)
c.5326A>T (p.Asn1776Tyr)
3g.53801218A=CA1365484166CACNA1Dc.5261A= (p.Asn1754=)
n.2200A=
n.636A=
c.5201A= (p.Asn1734=)
c.5156A= (p.Asn1719=)
c.1322A=
n.557A=
n.628A=
c.5228A= (p.Asn1743=)
c.4280A= (p.Asn1427=)
c.5456A= (p.Asn1819=)
c.5345A= (p.Asn1782=)
c.5267A= (p.Asn1756=)
c.4919A= (p.Asn1640=)
c.4544A= (p.Asn1515=)
c.5351A= (p.Asn1784=)
c.5453A= (p.Asn1818=)
c.5396A= (p.Asn1799=)
c.5372A= (p.Asn1791=)
c.5327A= (p.Asn1776=)
3g.53801218A>CCA353250539CACNA1Dc.5261A>C (p.Asn1754Thr)
n.2200A>C
n.636A>C
c.5201A>C (p.Asn1734Thr)
c.5156A>C (p.Asn1719Thr)
c.1322A>C
n.557A>C
n.628A>C
c.5228A>C (p.Asn1743Thr)
c.4280A>C (p.Asn1427Thr)
c.5456A>C (p.Asn1819Thr)
c.5345A>C (p.Asn1782Thr)
c.5267A>C (p.Asn1756Thr)
c.4919A>C (p.Asn1640Thr)
c.4544A>C (p.Asn1515Thr)
c.5351A>C (p.Asn1784Thr)
c.5453A>C (p.Asn1818Thr)
c.5396A>C (p.Asn1799Thr)
c.5372A>C (p.Asn1791Thr)
c.5327A>C (p.Asn1776Thr)
3g.53801218A>GCA353250534CACNA1Dc.5261A>G (p.Asn1754Ser)
n.2200A>G
n.636A>G
c.5201A>G (p.Asn1734Ser)
c.5156A>G (p.Asn1719Ser)
c.1322A>G
n.557A>G
n.628A>G
c.5228A>G (p.Asn1743Ser)
c.4280A>G (p.Asn1427Ser)
c.5456A>G (p.Asn1819Ser)
c.5345A>G (p.Asn1782Ser)
c.5267A>G (p.Asn1756Ser)
c.4919A>G (p.Asn1640Ser)
c.4544A>G (p.Asn1515Ser)
c.5351A>G (p.Asn1784Ser)
c.5453A>G (p.Asn1818Ser)
c.5396A>G (p.Asn1799Ser)
c.5372A>G (p.Asn1791Ser)
c.5327A>G (p.Asn1776Ser)
3g.53801218A>TCA74859870CACNA1Dc.5261A>T (p.Asn1754Ile)
n.2200A>T
n.636A>T
c.5201A>T (p.Asn1734Ile)
c.5156A>T (p.Asn1719Ile)
c.1322A>T
n.557A>T
n.628A>T
c.5228A>T (p.Asn1743Ile)
c.4280A>T (p.Asn1427Ile)
c.5456A>T (p.Asn1819Ile)
c.5345A>T (p.Asn1782Ile)
c.5267A>T (p.Asn1756Ile)
c.4919A>T (p.Asn1640Ile)
c.4544A>T (p.Asn1515Ile)
c.5351A>T (p.Asn1784Ile)
c.5453A>T (p.Asn1818Ile)
c.5396A>T (p.Asn1799Ile)
c.5372A>T (p.Asn1791Ile)
c.5327A>T (p.Asn1776Ile)
 dbSNP
3g.53801219T>ACA353250543CACNA1Dc.5262T>A (p.Asn1754Lys)
n.2201T>A
n.637T>A
c.5202T>A (p.Asn1734Lys)
c.5157T>A (p.Asn1719Lys)
c.1323T>A
n.558T>A
n.629T>A
c.5229T>A (p.Asn1743Lys)
c.4281T>A (p.Asn1427Lys)
c.5457T>A (p.Asn1819Lys)
c.5346T>A (p.Asn1782Lys)
c.5268T>A (p.Asn1756Lys)
c.4920T>A (p.Asn1640Lys)
c.4545T>A (p.Asn1515Lys)
c.5352T>A (p.Asn1784Lys)
c.5454T>A (p.Asn1818Lys)
c.5397T>A (p.Asn1799Lys)
c.5373T>A (p.Asn1791Lys)
c.5328T>A (p.Asn1776Lys)
3g.53801219T>CCA433896065CACNA1Dc.5262T>C (p.Asn1754=)
n.2201T>C
n.637T>C
c.5202T>C (p.Asn1734=)
c.5157T>C (p.Asn1719=)
c.1323T>C
n.558T>C
n.629T>C
c.5229T>C (p.Asn1743=)
c.4281T>C (p.Asn1427=)
c.5457T>C (p.Asn1819=)
c.5346T>C (p.Asn1782=)
c.5268T>C (p.Asn1756=)
c.4920T>C (p.Asn1640=)
c.4545T>C (p.Asn1515=)
c.5352T>C (p.Asn1784=)
c.5454T>C (p.Asn1818=)
c.5397T>C (p.Asn1799=)
c.5373T>C (p.Asn1791=)
c.5328T>C (p.Asn1776=)
3g.53801219T>GCA353250546CACNA1Dc.5262T>G (p.Asn1754Lys)
n.2201T>G
n.637T>G
c.5202T>G (p.Asn1734Lys)
c.5157T>G (p.Asn1719Lys)
c.1323T>G
n.558T>G
n.629T>G
c.5229T>G (p.Asn1743Lys)
c.4281T>G (p.Asn1427Lys)
c.5457T>G (p.Asn1819Lys)
c.5346T>G (p.Asn1782Lys)
c.5268T>G (p.Asn1756Lys)
c.4920T>G (p.Asn1640Lys)
c.4545T>G (p.Asn1515Lys)
c.5352T>G (p.Asn1784Lys)
c.5454T>G (p.Asn1818Lys)
c.5397T>G (p.Asn1799Lys)
c.5373T>G (p.Asn1791Lys)
c.5328T>G (p.Asn1776Lys)
3g.53801220T>ACA353250550CACNA1Dc.5263T>A (p.Ser1755Thr)
n.2202T>A
n.638T>A
c.5203T>A (p.Ser1735Thr)
c.5158T>A (p.Ser1720Thr)
c.1324T>A
n.559T>A
n.630T>A
c.5230T>A (p.Ser1744Thr)
c.4282T>A (p.Ser1428Thr)
c.5458T>A (p.Ser1820Thr)
c.5347T>A (p.Ser1783Thr)
c.5269T>A (p.Ser1757Thr)
c.4921T>A (p.Ser1641Thr)
c.4546T>A (p.Ser1516Thr)
c.5353T>A (p.Ser1785Thr)
c.5455T>A (p.Ser1819Thr)
c.5398T>A (p.Ser1800Thr)
c.5374T>A (p.Ser1792Thr)
c.5329T>A (p.Ser1777Thr)
3g.53801220T>CCA353250552CACNA1Dc.5263T>C (p.Ser1755Pro)
n.2202T>C
n.638T>C
c.5203T>C (p.Ser1735Pro)
c.5158T>C (p.Ser1720Pro)
c.1324T>C
n.559T>C
n.630T>C
c.5230T>C (p.Ser1744Pro)
c.4282T>C (p.Ser1428Pro)
c.5458T>C (p.Ser1820Pro)
c.5347T>C (p.Ser1783Pro)
c.5269T>C (p.Ser1757Pro)
c.4921T>C (p.Ser1641Pro)
c.4546T>C (p.Ser1516Pro)
c.5353T>C (p.Ser1785Pro)
c.5455T>C (p.Ser1819Pro)
c.5398T>C (p.Ser1800Pro)
c.5374T>C (p.Ser1792Pro)
c.5329T>C (p.Ser1777Pro)
 gnomAD v4
3g.53801220T>GCA353250554CACNA1Dc.5263T>G (p.Ser1755Ala)
n.2202T>G
n.638T>G
c.5203T>G (p.Ser1735Ala)
c.5158T>G (p.Ser1720Ala)
c.1324T>G
n.559T>G
n.630T>G
c.5230T>G (p.Ser1744Ala)
c.4282T>G (p.Ser1428Ala)
c.5458T>G (p.Ser1820Ala)
c.5347T>G (p.Ser1783Ala)
c.5269T>G (p.Ser1757Ala)
c.4921T>G (p.Ser1641Ala)
c.4546T>G (p.Ser1516Ala)
c.5353T>G (p.Ser1785Ala)
c.5455T>G (p.Ser1819Ala)
c.5398T>G (p.Ser1800Ala)
c.5374T>G (p.Ser1792Ala)
c.5329T>G (p.Ser1777Ala)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.53801220T=CA1365484167CACNA1Dc.5263T= (p.Ser1755=)
n.2202T=
n.638T=
c.5203T= (p.Ser1735=)
c.5158T= (p.Ser1720=)
c.1324T=
n.559T=
n.630T=
c.5230T= (p.Ser1744=)
c.4282T= (p.Ser1428=)
c.5458T= (p.Ser1820=)
c.5347T= (p.Ser1783=)
c.5269T= (p.Ser1757=)
c.4921T= (p.Ser1641=)
c.4546T= (p.Ser1516=)
c.5353T= (p.Ser1785=)
c.5455T= (p.Ser1819=)
c.5398T= (p.Ser1800=)
c.5374T= (p.Ser1792=)
c.5329T= (p.Ser1777=)
3g.53801221C>ACA353250556CACNA1Dc.5264C>A (p.Ser1755Ter)
n.2203C>A
n.639C>A
c.5204C>A (p.Ser1735Ter)
c.5159C>A (p.Ser1720Ter)
c.1325C>A
n.560C>A
n.631C>A
c.5231C>A (p.Ser1744Ter)
c.4283C>A (p.Ser1428Ter)
c.5459C>A (p.Ser1820Ter)
c.5348C>A (p.Ser1783Ter)
c.5270C>A (p.Ser1757Ter)
c.4922C>A (p.Ser1641Ter)
c.4547C>A (p.Ser1516Ter)
c.5354C>A (p.Ser1785Ter)
c.5456C>A (p.Ser1819Ter)
c.5399C>A (p.Ser1800Ter)
c.5375C>A (p.Ser1792Ter)
c.5330C>A (p.Ser1777Ter)
3g.53801221C=CA1365484168CACNA1Dc.5264C= (p.Ser1755=)
n.2203C=
n.639C=
c.5204C= (p.Ser1735=)
c.5159C= (p.Ser1720=)
c.1325C=
n.560C=
n.631C=
c.5231C= (p.Ser1744=)
c.4283C= (p.Ser1428=)
c.5459C= (p.Ser1820=)
c.5348C= (p.Ser1783=)
c.5270C= (p.Ser1757=)
c.4922C= (p.Ser1641=)
c.4547C= (p.Ser1516=)
c.5354C= (p.Ser1785=)
c.5456C= (p.Ser1819=)
c.5399C= (p.Ser1800=)
c.5375C= (p.Ser1792=)
c.5330C= (p.Ser1777=)
3g.53801221C>GCA353250557CACNA1Dc.5264C>G (p.Ser1755Trp)
n.2203C>G
n.639C>G
c.5204C>G (p.Ser1735Trp)
c.5159C>G (p.Ser1720Trp)
c.1325C>G
n.560C>G
n.631C>G
c.5231C>G (p.Ser1744Trp)
c.4283C>G (p.Ser1428Trp)
c.5459C>G (p.Ser1820Trp)
c.5348C>G (p.Ser1783Trp)
c.5270C>G (p.Ser1757Trp)
c.4922C>G (p.Ser1641Trp)
c.4547C>G (p.Ser1516Trp)
c.5354C>G (p.Ser1785Trp)
c.5456C>G (p.Ser1819Trp)
c.5399C>G (p.Ser1800Trp)
c.5375C>G (p.Ser1792Trp)
c.5330C>G (p.Ser1777Trp)
3g.53801221C>TCA353250561CACNA1Dc.5264C>T (p.Ser1755Leu)
n.2203C>T
n.639C>T
c.5204C>T (p.Ser1735Leu)
c.5159C>T (p.Ser1720Leu)
c.1325C>T
n.560C>T
n.631C>T
c.5231C>T (p.Ser1744Leu)
c.4283C>T (p.Ser1428Leu)
c.5459C>T (p.Ser1820Leu)
c.5348C>T (p.Ser1783Leu)
c.5270C>T (p.Ser1757Leu)
c.4922C>T (p.Ser1641Leu)
c.4547C>T (p.Ser1516Leu)
c.5354C>T (p.Ser1785Leu)
c.5456C>T (p.Ser1819Leu)
c.5399C>T (p.Ser1800Leu)
c.5375C>T (p.Ser1792Leu)
c.5330C>T (p.Ser1777Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
3g.53801222G>ACA433896073CACNA1Dc.5265G>A (p.Ser1755=)
n.2204G>A
n.640G>A
c.5205G>A (p.Ser1735=)
c.5160G>A (p.Ser1720=)
c.1326G>A
n.561G>A
n.632G>A
c.5232G>A (p.Ser1744=)
c.4284G>A (p.Ser1428=)
c.5460G>A (p.Ser1820=)
c.5349G>A (p.Ser1783=)
c.5271G>A (p.Ser1757=)
c.4923G>A (p.Ser1641=)
c.4548G>A (p.Ser1516=)
c.5355G>A (p.Ser1785=)
c.5457G>A (p.Ser1819=)
c.5400G>A (p.Ser1800=)
c.5376G>A (p.Ser1792=)
c.5331G>A (p.Ser1777=)
 dbSNP gnomAD v2 gnomAD v4
3g.53801222G>CCA433896071CACNA1Dc.5265G>C (p.Ser1755=)
n.2204G>C
n.640G>C
c.5205G>C (p.Ser1735=)
c.5160G>C (p.Ser1720=)
c.1326G>C
n.561G>C
n.632G>C
c.5232G>C (p.Ser1744=)
c.4284G>C (p.Ser1428=)
c.5460G>C (p.Ser1820=)
c.5349G>C (p.Ser1783=)
c.5271G>C (p.Ser1757=)
c.4923G>C (p.Ser1641=)
c.4548G>C (p.Ser1516=)
c.5355G>C (p.Ser1785=)
c.5457G>C (p.Ser1819=)
c.5400G>C (p.Ser1800=)
c.5376G>C (p.Ser1792=)
c.5331G>C (p.Ser1777=)
 gnomAD v4
3g.53801222G=CA1365484169CACNA1Dc.5265G= (p.Ser1755=)
n.2204G=
n.640G=
c.5205G= (p.Ser1735=)
c.5160G= (p.Ser1720=)
c.1326G=
n.561G=
n.632G=
c.5232G= (p.Ser1744=)
c.4284G= (p.Ser1428=)
c.5460G= (p.Ser1820=)
c.5349G= (p.Ser1783=)
c.5271G= (p.Ser1757=)
c.4923G= (p.Ser1641=)
c.4548G= (p.Ser1516=)
c.5355G= (p.Ser1785=)
c.5457G= (p.Ser1819=)
c.5400G= (p.Ser1800=)
c.5376G= (p.Ser1792=)
c.5331G= (p.Ser1777=)
3g.53801222G>TCA433896075CACNA1Dc.5265G>T (p.Ser1755=)
n.2204G>T
n.640G>T
c.5205G>T (p.Ser1735=)
c.5160G>T (p.Ser1720=)
c.1326G>T
n.561G>T
n.632G>T
c.5232G>T (p.Ser1744=)
c.4284G>T (p.Ser1428=)
c.5460G>T (p.Ser1820=)
c.5349G>T (p.Ser1783=)
c.5271G>T (p.Ser1757=)
c.4923G>T (p.Ser1641=)
c.4548G>T (p.Ser1516=)
c.5355G>T (p.Ser1785=)
c.5457G>T (p.Ser1819=)
c.5400G>T (p.Ser1800=)
c.5376G>T (p.Ser1792=)
c.5331G>T (p.Ser1777=)
3g.53801223G>ACA353250564CACNA1Dc.5266G>A (p.Val1756Met)
n.2205G>A
n.641G>A
c.5206G>A (p.Val1736Met)
c.5161G>A (p.Val1721Met)
c.1327G>A
n.562G>A
n.633G>A
c.5233G>A (p.Val1745Met)
c.4285G>A (p.Val1429Met)
c.5461G>A (p.Val1821Met)
c.5350G>A (p.Val1784Met)
c.5272G>A (p.Val1758Met)
c.4924G>A (p.Val1642Met)
c.4549G>A (p.Val1517Met)
c.5356G>A (p.Val1786Met)
c.5458G>A (p.Val1820Met)
c.5401G>A (p.Val1801Met)
c.5377G>A (p.Val1793Met)
c.5332G>A (p.Val1778Met)
3g.53801223G>CCA353250568CACNA1Dc.5266G>C (p.Val1756Leu)
n.2205G>C
n.641G>C
c.5206G>C (p.Val1736Leu)
c.5161G>C (p.Val1721Leu)
c.1327G>C
n.562G>C
n.633G>C
c.5233G>C (p.Val1745Leu)
c.4285G>C (p.Val1429Leu)
c.5461G>C (p.Val1821Leu)
c.5350G>C (p.Val1784Leu)
c.5272G>C (p.Val1758Leu)
c.4924G>C (p.Val1642Leu)
c.4549G>C (p.Val1517Leu)
c.5356G>C (p.Val1786Leu)
c.5458G>C (p.Val1820Leu)
c.5401G>C (p.Val1801Leu)
c.5377G>C (p.Val1793Leu)
c.5332G>C (p.Val1778Leu)
3g.53801223G>TCA353250571CACNA1Dc.5266G>T (p.Val1756Leu)
n.2205G>T
n.641G>T
c.5206G>T (p.Val1736Leu)
c.5161G>T (p.Val1721Leu)
c.1327G>T
n.562G>T
n.633G>T
c.5233G>T (p.Val1745Leu)
c.4285G>T (p.Val1429Leu)
c.5461G>T (p.Val1821Leu)
c.5350G>T (p.Val1784Leu)
c.5272G>T (p.Val1758Leu)
c.4924G>T (p.Val1642Leu)
c.4549G>T (p.Val1517Leu)
c.5356G>T (p.Val1786Leu)
c.5458G>T (p.Val1820Leu)
c.5401G>T (p.Val1801Leu)
c.5377G>T (p.Val1793Leu)
c.5332G>T (p.Val1778Leu)
3g.53801224T>ACA353250577CACNA1Dc.5267T>A (p.Val1756Glu)
n.2206T>A
n.642T>A
c.5207T>A (p.Val1736Glu)
c.5162T>A (p.Val1721Glu)
c.1328T>A
n.563T>A
n.634T>A
c.5234T>A (p.Val1745Glu)
c.4286T>A (p.Val1429Glu)
c.5462T>A (p.Val1821Glu)
c.5351T>A (p.Val1784Glu)
c.5273T>A (p.Val1758Glu)
c.4925T>A (p.Val1642Glu)
c.4550T>A (p.Val1517Glu)
c.5357T>A (p.Val1786Glu)
c.5459T>A (p.Val1820Glu)
c.5402T>A (p.Val1801Glu)
c.5378T>A (p.Val1793Glu)
c.5333T>A (p.Val1778Glu)
3g.53801224T>CCA353250582CACNA1Dc.5267T>C (p.Val1756Ala)
n.2206T>C
n.642T>C
c.5207T>C (p.Val1736Ala)
c.5162T>C (p.Val1721Ala)
c.1328T>C
n.563T>C
n.634T>C
c.5234T>C (p.Val1745Ala)
c.4286T>C (p.Val1429Ala)
c.5462T>C (p.Val1821Ala)
c.5351T>C (p.Val1784Ala)
c.5273T>C (p.Val1758Ala)
c.4925T>C (p.Val1642Ala)
c.4550T>C (p.Val1517Ala)
c.5357T>C (p.Val1786Ala)
c.5459T>C (p.Val1820Ala)
c.5402T>C (p.Val1801Ala)
c.5378T>C (p.Val1793Ala)
c.5333T>C (p.Val1778Ala)
3g.53801224T>GCA353250574CACNA1Dc.5267T>G (p.Val1756Gly)
n.2206T>G
n.642T>G
c.5207T>G (p.Val1736Gly)
c.5162T>G (p.Val1721Gly)
c.1328T>G
n.563T>G
n.634T>G
c.5234T>G (p.Val1745Gly)
c.4286T>G (p.Val1429Gly)
c.5462T>G (p.Val1821Gly)
c.5351T>G (p.Val1784Gly)
c.5273T>G (p.Val1758Gly)
c.4925T>G (p.Val1642Gly)
c.4550T>G (p.Val1517Gly)
c.5357T>G (p.Val1786Gly)
c.5459T>G (p.Val1820Gly)
c.5402T>G (p.Val1801Gly)
c.5378T>G (p.Val1793Gly)
c.5333T>G (p.Val1778Gly)
 COSMIC COSMIC
3g.53801225G>ACA433896081CACNA1Dc.5268G>A (p.Val1756=)
n.2207G>A
n.643G>A
c.5208G>A (p.Val1736=)
c.5163G>A (p.Val1721=)
c.1329G>A
n.564G>A
n.635G>A
c.5235G>A (p.Val1745=)
c.4287G>A (p.Val1429=)
c.5463G>A (p.Val1821=)
c.5352G>A (p.Val1784=)
c.5274G>A (p.Val1758=)
c.4926G>A (p.Val1642=)
c.4551G>A (p.Val1517=)
c.5358G>A (p.Val1786=)
c.5460G>A (p.Val1820=)
c.5403G>A (p.Val1801=)
c.5379G>A (p.Val1793=)
c.5334G>A (p.Val1778=)
 dbSNP gnomAD v2 gnomAD v4
3g.53801225G>CCA433896082CACNA1Dc.5268G>C (p.Val1756=)
n.2207G>C
n.643G>C
c.5208G>C (p.Val1736=)
c.5163G>C (p.Val1721=)
c.1329G>C
n.564G>C
n.635G>C
c.5235G>C (p.Val1745=)
c.4287G>C (p.Val1429=)
c.5463G>C (p.Val1821=)
c.5352G>C (p.Val1784=)
c.5274G>C (p.Val1758=)
c.4926G>C (p.Val1642=)
c.4551G>C (p.Val1517=)
c.5358G>C (p.Val1786=)
c.5460G>C (p.Val1820=)
c.5403G>C (p.Val1801=)
c.5379G>C (p.Val1793=)
c.5334G>C (p.Val1778=)
3g.53801225G=CA1365484170CACNA1Dc.5268G= (p.Val1756=)
n.2207G=
n.643G=
c.5208G= (p.Val1736=)
c.5163G= (p.Val1721=)
c.1329G=
n.564G=
n.635G=
c.5235G= (p.Val1745=)
c.4287G= (p.Val1429=)
c.5463G= (p.Val1821=)
c.5352G= (p.Val1784=)
c.5274G= (p.Val1758=)
c.4926G= (p.Val1642=)
c.4551G= (p.Val1517=)
c.5358G= (p.Val1786=)
c.5460G= (p.Val1820=)
c.5403G= (p.Val1801=)
c.5379G= (p.Val1793=)
c.5334G= (p.Val1778=)
3g.53801225G>TCA433896083CACNA1Dc.5268G>T (p.Val1756=)
n.2207G>T
n.643G>T
c.5208G>T (p.Val1736=)
c.5163G>T (p.Val1721=)
c.1329G>T
n.564G>T
n.635G>T
c.5235G>T (p.Val1745=)
c.4287G>T (p.Val1429=)
c.5463G>T (p.Val1821=)
c.5352G>T (p.Val1784=)
c.5274G>T (p.Val1758=)
c.4926G>T (p.Val1642=)
c.4551G>T (p.Val1517=)
c.5358G>T (p.Val1786=)
c.5460G>T (p.Val1820=)
c.5403G>T (p.Val1801=)
c.5379G>T (p.Val1793=)
c.5334G>T (p.Val1778=)
3g.53801226T>ACA353250588CACNA1Dc.5269T>A (p.Cys1757Ser)
n.2208T>A
n.644T>A
c.5209T>A (p.Cys1737Ser)
c.5164T>A (p.Cys1722Ser)
c.1330T>A
n.565T>A
n.636T>A
c.5236T>A (p.Cys1746Ser)
c.4288T>A (p.Cys1430Ser)
c.5464T>A (p.Cys1822Ser)
c.5353T>A (p.Cys1785Ser)
c.5275T>A (p.Cys1759Ser)
c.4927T>A (p.Cys1643Ser)
c.4552T>A (p.Cys1518Ser)
c.5359T>A (p.Cys1787Ser)
c.5461T>A (p.Cys1821Ser)
c.5404T>A (p.Cys1802Ser)
c.5380T>A (p.Cys1794Ser)
c.5335T>A (p.Cys1779Ser)
3g.53801226T>CCA353250586CACNA1Dc.5269T>C (p.Cys1757Arg)
n.2208T>C
n.644T>C
c.5209T>C (p.Cys1737Arg)
c.5164T>C (p.Cys1722Arg)
c.1330T>C
n.565T>C
n.636T>C
c.5236T>C (p.Cys1746Arg)
c.4288T>C (p.Cys1430Arg)
c.5464T>C (p.Cys1822Arg)
c.5353T>C (p.Cys1785Arg)
c.5275T>C (p.Cys1759Arg)
c.4927T>C (p.Cys1643Arg)
c.4552T>C (p.Cys1518Arg)
c.5359T>C (p.Cys1787Arg)
c.5461T>C (p.Cys1821Arg)
c.5404T>C (p.Cys1802Arg)
c.5380T>C (p.Cys1794Arg)
c.5335T>C (p.Cys1779Arg)
3g.53801226T>GCA353250590CACNA1Dc.5269T>G (p.Cys1757Gly)
n.2208T>G
n.644T>G
c.5209T>G (p.Cys1737Gly)
c.5164T>G (p.Cys1722Gly)
c.1330T>G
n.565T>G
n.636T>G
c.5236T>G (p.Cys1746Gly)
c.4288T>G (p.Cys1430Gly)
c.5464T>G (p.Cys1822Gly)
c.5353T>G (p.Cys1785Gly)
c.5275T>G (p.Cys1759Gly)
c.4927T>G (p.Cys1643Gly)
c.4552T>G (p.Cys1518Gly)
c.5359T>G (p.Cys1787Gly)
c.5461T>G (p.Cys1821Gly)
c.5404T>G (p.Cys1802Gly)
c.5380T>G (p.Cys1794Gly)
c.5335T>G (p.Cys1779Gly)
3g.53801227G>ACA353250593CACNA1Dc.5270G>A (p.Cys1757Tyr)
n.2209G>A
n.645G>A
c.5210G>A (p.Cys1737Tyr)
c.5165G>A (p.Cys1722Tyr)
c.1331G>A
n.566G>A
n.637G>A
c.5237G>A (p.Cys1746Tyr)
c.4289G>A (p.Cys1430Tyr)
c.5465G>A (p.Cys1822Tyr)
c.5354G>A (p.Cys1785Tyr)
c.5276G>A (p.Cys1759Tyr)
c.4928G>A (p.Cys1643Tyr)
c.4553G>A (p.Cys1518Tyr)
c.5360G>A (p.Cys1787Tyr)
c.5462G>A (p.Cys1821Tyr)
c.5405G>A (p.Cys1802Tyr)
c.5381G>A (p.Cys1794Tyr)
c.5336G>A (p.Cys1779Tyr)
 gnomAD v4
3g.53801227G>CCA353250594CACNA1Dc.5270G>C (p.Cys1757Ser)
n.2209G>C
n.645G>C
c.5210G>C (p.Cys1737Ser)
c.5165G>C (p.Cys1722Ser)
c.1331G>C
n.566G>C
n.637G>C
c.5237G>C (p.Cys1746Ser)
c.4289G>C (p.Cys1430Ser)
c.5465G>C (p.Cys1822Ser)
c.5354G>C (p.Cys1785Ser)
c.5276G>C (p.Cys1759Ser)
c.4928G>C (p.Cys1643Ser)
c.4553G>C (p.Cys1518Ser)
c.5360G>C (p.Cys1787Ser)
c.5462G>C (p.Cys1821Ser)
c.5405G>C (p.Cys1802Ser)
c.5381G>C (p.Cys1794Ser)
c.5336G>C (p.Cys1779Ser)
3g.53801227G>TCA353250595CACNA1Dc.5270G>T (p.Cys1757Phe)
n.2209G>T
n.645G>T
c.5210G>T (p.Cys1737Phe)
c.5165G>T (p.Cys1722Phe)
c.1331G>T
n.566G>T
n.637G>T
c.5237G>T (p.Cys1746Phe)
c.4289G>T (p.Cys1430Phe)
c.5465G>T (p.Cys1822Phe)
c.5354G>T (p.Cys1785Phe)
c.5276G>T (p.Cys1759Phe)
c.4928G>T (p.Cys1643Phe)
c.4553G>T (p.Cys1518Phe)
c.5360G>T (p.Cys1787Phe)
c.5462G>T (p.Cys1821Phe)
c.5405G>T (p.Cys1802Phe)
c.5381G>T (p.Cys1794Phe)
c.5336G>T (p.Cys1779Phe)
3g.53801227_53801236delinsGTCATAACCACA1365484171CACNA1Dc.5270_5279delinsGTCATAACCA (p.Cys1757=)
n.2209_2218delinsGTCATAACCA
n.645_654delinsGTCATAACCA
c.5210_5219delinsGTCATAACCA (p.Cys1737=)
c.5165_5174delinsGTCATAACCA (p.Cys1722=)
c.1331_1340delinsGTCATAACCA
n.566_575delinsGTCATAACCA
n.637_646delinsGTCATAACCA
c.5237_5246delinsGTCATAACCA (p.Cys1746=)
c.4289_4298delinsGTCATAACCA (p.Cys1430=)
c.5465_5474delinsGTCATAACCA (p.Cys1822=)
c.5354_5363delinsGTCATAACCA (p.Cys1785=)
c.5276_5285delinsGTCATAACCA (p.Cys1759=)
c.4928_4937delinsGTCATAACCA (p.Cys1643=)
c.4553_4562delinsGTCATAACCA (p.Cys1518=)
c.5360_5369delinsGTCATAACCA (p.Cys1787=)
c.5462_5471delinsGTCATAACCA (p.Cys1821=)
c.5405_5414delinsGTCATAACCA (p.Cys1802=)
c.5381_5390delinsGTCATAACCA (p.Cys1794=)
c.5336_5345delinsGTCATAACCA (p.Cys1779=)
3g.53801228T>ACA353250599CACNA1Dc.5271T>A (p.Cys1757Ter)
n.2210T>A
n.646T>A
c.5211T>A (p.Cys1737Ter)
c.5166T>A (p.Cys1722Ter)
c.1332T>A
n.567T>A
n.638T>A
c.5238T>A (p.Cys1746Ter)
c.4290T>A (p.Cys1430Ter)
c.5466T>A (p.Cys1822Ter)
c.5355T>A (p.Cys1785Ter)
c.5277T>A (p.Cys1759Ter)
c.4929T>A (p.Cys1643Ter)
c.4554T>A (p.Cys1518Ter)
c.5361T>A (p.Cys1787Ter)
c.5463T>A (p.Cys1821Ter)
c.5406T>A (p.Cys1802Ter)
c.5382T>A (p.Cys1794Ter)
c.5337T>A (p.Cys1779Ter)
3g.53801228T>CCA433896087CACNA1Dc.5271T>C (p.Cys1757=)
n.2210T>C
n.646T>C
c.5211T>C (p.Cys1737=)
c.5166T>C (p.Cys1722=)
c.1332T>C
n.567T>C
n.638T>C
c.5238T>C (p.Cys1746=)
c.4290T>C (p.Cys1430=)
c.5466T>C (p.Cys1822=)
c.5355T>C (p.Cys1785=)
c.5277T>C (p.Cys1759=)
c.4929T>C (p.Cys1643=)
c.4554T>C (p.Cys1518=)
c.5361T>C (p.Cys1787=)
c.5463T>C (p.Cys1821=)
c.5406T>C (p.Cys1802=)
c.5382T>C (p.Cys1794=)
c.5337T>C (p.Cys1779=)
3g.53801228T>GCA353250601CACNA1Dc.5271T>G (p.Cys1757Trp)
n.2210T>G
n.646T>G
c.5211T>G (p.Cys1737Trp)
c.5166T>G (p.Cys1722Trp)
c.1332T>G
n.567T>G
n.638T>G
c.5238T>G (p.Cys1746Trp)
c.4290T>G (p.Cys1430Trp)
c.5466T>G (p.Cys1822Trp)
c.5355T>G (p.Cys1785Trp)
c.5277T>G (p.Cys1759Trp)
c.4929T>G (p.Cys1643Trp)
c.4554T>G (p.Cys1518Trp)
c.5361T>G (p.Cys1787Trp)
c.5463T>G (p.Cys1821Trp)
c.5406T>G (p.Cys1802Trp)
c.5382T>G (p.Cys1794Trp)
c.5337T>G (p.Cys1779Trp)
3g.53801238_53801246delCA1048074805CACNA1Dc.5281_5289del (p.His1761_His1763del)
n.2220_2228del
n.656_664del
c.5221_5229del (p.His1741_His1743del)
c.5176_5184del (p.His1726_His1728del)
c.1342_1350del
n.577_585del
n.648_656del
c.5248_5256del (p.His1750_His1752del)
c.4300_4308del (p.His1434_His1436del)
c.5476_5484del (p.His1826_His1828del)
c.5365_5373del (p.His1789_His1791del)
c.5287_5295del (p.His1763_His1765del)
c.4939_4947del (p.His1647_His1649del)
c.4564_4572del (p.His1522_His1524del)
c.5371_5379del (p.His1791_His1793del)
c.5473_5481del (p.His1825_His1827del)
c.5416_5424del (p.His1806_His1808del)
c.5392_5400del (p.His1798_His1800del)
c.5347_5355del (p.His1783_His1785del)
 dbSNP gnomAD v3 gnomAD v4
3g.53801229C>ACA353250604CACNA1Dc.5272C>A (p.His1758Asn)
n.2211C>A
n.647C>A
c.5212C>A (p.His1738Asn)
c.5167C>A (p.His1723Asn)
c.1333C>A
n.568C>A
n.639C>A
c.5239C>A (p.His1747Asn)
c.4291C>A (p.His1431Asn)
c.5467C>A (p.His1823Asn)
c.5356C>A (p.His1786Asn)
c.5278C>A (p.His1760Asn)
c.4930C>A (p.His1644Asn)
c.4555C>A (p.His1519Asn)
c.5362C>A (p.His1788Asn)
c.5464C>A (p.His1822Asn)
c.5407C>A (p.His1803Asn)
c.5383C>A (p.His1795Asn)
c.5338C>A (p.His1780Asn)
3g.53801229C>GCA353250605CACNA1Dc.5272C>G (p.His1758Asp)
n.2211C>G
n.647C>G
c.5212C>G (p.His1738Asp)
c.5167C>G (p.His1723Asp)
c.1333C>G
n.568C>G
n.639C>G
c.5239C>G (p.His1747Asp)
c.4291C>G (p.His1431Asp)
c.5467C>G (p.His1823Asp)
c.5356C>G (p.His1786Asp)
c.5278C>G (p.His1760Asp)
c.4930C>G (p.His1644Asp)
c.4555C>G (p.His1519Asp)
c.5362C>G (p.His1788Asp)
c.5464C>G (p.His1822Asp)
c.5407C>G (p.His1803Asp)
c.5383C>G (p.His1795Asp)
c.5338C>G (p.His1780Asp)
3g.53801229C>TCA353250608CACNA1Dc.5272C>T (p.His1758Tyr)
n.2211C>T
n.647C>T
c.5212C>T (p.His1738Tyr)
c.5167C>T (p.His1723Tyr)
c.1333C>T
n.568C>T
n.639C>T
c.5239C>T (p.His1747Tyr)
c.4291C>T (p.His1431Tyr)
c.5467C>T (p.His1823Tyr)
c.5356C>T (p.His1786Tyr)
c.5278C>T (p.His1760Tyr)
c.4930C>T (p.His1644Tyr)
c.4555C>T (p.His1519Tyr)
c.5362C>T (p.His1788Tyr)
c.5464C>T (p.His1822Tyr)
c.5407C>T (p.His1803Tyr)
c.5383C>T (p.His1795Tyr)
c.5338C>T (p.His1780Tyr)
3g.53801230A=CA1365484172CACNA1Dc.5273A= (p.His1758=)
n.2212A=
n.648A=
c.5213A= (p.His1738=)
c.5168A= (p.His1723=)
c.1334A=
n.569A=
n.640A=
c.5240A= (p.His1747=)
c.4292A= (p.His1431=)
c.5468A= (p.His1823=)
c.5357A= (p.His1786=)
c.5279A= (p.His1760=)
c.4931A= (p.His1644=)
c.4556A= (p.His1519=)
c.5363A= (p.His1788=)
c.5465A= (p.His1822=)
c.5408A= (p.His1803=)
c.5384A= (p.His1795=)
c.5339A= (p.His1780=)
3g.53801230A>CCA353250609CACNA1Dc.5273A>C (p.His1758Pro)
n.2212A>C
n.648A>C
c.5213A>C (p.His1738Pro)
c.5168A>C (p.His1723Pro)
c.1334A>C
n.569A>C
n.640A>C
c.5240A>C (p.His1747Pro)
c.4292A>C (p.His1431Pro)
c.5468A>C (p.His1823Pro)
c.5357A>C (p.His1786Pro)
c.5279A>C (p.His1760Pro)
c.4931A>C (p.His1644Pro)
c.4556A>C (p.His1519Pro)
c.5363A>C (p.His1788Pro)
c.5465A>C (p.His1822Pro)
c.5408A>C (p.His1803Pro)
c.5384A>C (p.His1795Pro)
c.5339A>C (p.His1780Pro)
 dbSNP
3g.53801230A>GCA353250612CACNA1Dc.5273A>G (p.His1758Arg)
n.2212A>G
n.648A>G
c.5213A>G (p.His1738Arg)
c.5168A>G (p.His1723Arg)
c.1334A>G
n.569A>G
n.640A>G
c.5240A>G (p.His1747Arg)
c.4292A>G (p.His1431Arg)
c.5468A>G (p.His1823Arg)
c.5357A>G (p.His1786Arg)
c.5279A>G (p.His1760Arg)
c.4931A>G (p.His1644Arg)
c.4556A>G (p.His1519Arg)
c.5363A>G (p.His1788Arg)
c.5465A>G (p.His1822Arg)
c.5408A>G (p.His1803Arg)
c.5384A>G (p.His1795Arg)
c.5339A>G (p.His1780Arg)
3g.53801230A>TCA353250614CACNA1Dc.5273A>T (p.His1758Leu)
n.2212A>T
n.648A>T
c.5213A>T (p.His1738Leu)
c.5168A>T (p.His1723Leu)
c.1334A>T
n.569A>T
n.640A>T
c.5240A>T (p.His1747Leu)
c.4292A>T (p.His1431Leu)
c.5468A>T (p.His1823Leu)
c.5357A>T (p.His1786Leu)
c.5279A>T (p.His1760Leu)
c.4931A>T (p.His1644Leu)
c.4556A>T (p.His1519Leu)
c.5363A>T (p.His1788Leu)
c.5465A>T (p.His1822Leu)
c.5408A>T (p.His1803Leu)
c.5384A>T (p.His1795Leu)
c.5339A>T (p.His1780Leu)
3g.53801231T>ACA353250616CACNA1Dc.5274T>A (p.His1758Gln)
n.2213T>A
n.649T>A
c.5214T>A (p.His1738Gln)
c.5169T>A (p.His1723Gln)
c.1335T>A
n.570T>A
n.641T>A
c.5241T>A (p.His1747Gln)
c.4293T>A (p.His1431Gln)
c.5469T>A (p.His1823Gln)
c.5358T>A (p.His1786Gln)
c.5280T>A (p.His1760Gln)
c.4932T>A (p.His1644Gln)
c.4557T>A (p.His1519Gln)
c.5364T>A (p.His1788Gln)
c.5466T>A (p.His1822Gln)
c.5409T>A (p.His1803Gln)
c.5385T>A (p.His1795Gln)
c.5340T>A (p.His1780Gln)
3g.53801231T>CCA433896090CACNA1Dc.5274T>C (p.His1758=)
n.2213T>C
n.649T>C
c.5214T>C (p.His1738=)
c.5169T>C (p.His1723=)
c.1335T>C
n.570T>C
n.641T>C
c.5241T>C (p.His1747=)
c.4293T>C (p.His1431=)
c.5469T>C (p.His1823=)
c.5358T>C (p.His1786=)
c.5280T>C (p.His1760=)
c.4932T>C (p.His1644=)
c.4557T>C (p.His1519=)
c.5364T>C (p.His1788=)
c.5466T>C (p.His1822=)
c.5409T>C (p.His1803=)
c.5385T>C (p.His1795=)
c.5340T>C (p.His1780=)
3g.53801231T>GCA353250618CACNA1Dc.5274T>G (p.His1758Gln)
n.2213T>G
n.649T>G
c.5214T>G (p.His1738Gln)
c.5169T>G (p.His1723Gln)
c.1335T>G
n.570T>G
n.641T>G
c.5241T>G (p.His1747Gln)
c.4293T>G (p.His1431Gln)
c.5469T>G (p.His1823Gln)
c.5358T>G (p.His1786Gln)
c.5280T>G (p.His1760Gln)
c.4932T>G (p.His1644Gln)
c.4557T>G (p.His1519Gln)
c.5364T>G (p.His1788Gln)
c.5466T>G (p.His1822Gln)
c.5409T>G (p.His1803Gln)
c.5385T>G (p.His1795Gln)
c.5340T>G (p.His1780Gln)
3g.53801232A>CCA353250620CACNA1Dc.5275A>C (p.Asn1759His)
n.2214A>C
n.650A>C
c.5215A>C (p.Asn1739His)
c.5170A>C (p.Asn1724His)
c.1336A>C
n.571A>C
n.642A>C
c.5242A>C (p.Asn1748His)
c.4294A>C (p.Asn1432His)
c.5470A>C (p.Asn1824His)
c.5359A>C (p.Asn1787His)
c.5281A>C (p.Asn1761His)
c.4933A>C (p.Asn1645His)
c.4558A>C (p.Asn1520His)
c.5365A>C (p.Asn1789His)
c.5467A>C (p.Asn1823His)
c.5410A>C (p.Asn1804His)
c.5386A>C (p.Asn1796His)
c.5341A>C (p.Asn1781His)
3g.53801232A>GCA353250624CACNA1Dc.5275A>G (p.Asn1759Asp)
n.2214A>G
n.650A>G
c.5215A>G (p.Asn1739Asp)
c.5170A>G (p.Asn1724Asp)
c.1336A>G
n.571A>G
n.642A>G
c.5242A>G (p.Asn1748Asp)
c.4294A>G (p.Asn1432Asp)
c.5470A>G (p.Asn1824Asp)
c.5359A>G (p.Asn1787Asp)
c.5281A>G (p.Asn1761Asp)
c.4933A>G (p.Asn1645Asp)
c.4558A>G (p.Asn1520Asp)
c.5365A>G (p.Asn1789Asp)
c.5467A>G (p.Asn1823Asp)
c.5410A>G (p.Asn1804Asp)
c.5386A>G (p.Asn1796Asp)
c.5341A>G (p.Asn1781Asp)
3g.53801232A>TCA353250622CACNA1Dc.5275A>T (p.Asn1759Tyr)
n.2214A>T
n.650A>T
c.5215A>T (p.Asn1739Tyr)
c.5170A>T (p.Asn1724Tyr)
c.1336A>T
n.571A>T
n.642A>T
c.5242A>T (p.Asn1748Tyr)
c.4294A>T (p.Asn1432Tyr)
c.5470A>T (p.Asn1824Tyr)
c.5359A>T (p.Asn1787Tyr)
c.5281A>T (p.Asn1761Tyr)
c.4933A>T (p.Asn1645Tyr)
c.4558A>T (p.Asn1520Tyr)
c.5365A>T (p.Asn1789Tyr)
c.5467A>T (p.Asn1823Tyr)
c.5410A>T (p.Asn1804Tyr)
c.5386A>T (p.Asn1796Tyr)
c.5341A>T (p.Asn1781Tyr)
3g.53801233A=CA1365484173CACNA1Dc.5276A= (p.Asn1759=)
n.2215A=
n.651A=
c.5216A= (p.Asn1739=)
c.5171A= (p.Asn1724=)
c.1337A=
n.572A=
n.643A=
c.5243A= (p.Asn1748=)
c.4295A= (p.Asn1432=)
c.5471A= (p.Asn1824=)
c.5360A= (p.Asn1787=)
c.5282A= (p.Asn1761=)
c.4934A= (p.Asn1645=)
c.4559A= (p.Asn1520=)
c.5366A= (p.Asn1789=)
c.5468A= (p.Asn1823=)
c.5411A= (p.Asn1804=)
c.5387A= (p.Asn1796=)
c.5342A= (p.Asn1781=)
3g.53801233A>CCA353250627CACNA1Dc.5276A>C (p.Asn1759Thr)
n.2215A>C
n.651A>C
c.5216A>C (p.Asn1739Thr)
c.5171A>C (p.Asn1724Thr)
c.1337A>C
n.572A>C
n.643A>C
c.5243A>C (p.Asn1748Thr)
c.4295A>C (p.Asn1432Thr)
c.5471A>C (p.Asn1824Thr)
c.5360A>C (p.Asn1787Thr)
c.5282A>C (p.Asn1761Thr)
c.4934A>C (p.Asn1645Thr)
c.4559A>C (p.Asn1520Thr)
c.5366A>C (p.Asn1789Thr)
c.5468A>C (p.Asn1823Thr)
c.5411A>C (p.Asn1804Thr)
c.5387A>C (p.Asn1796Thr)
c.5342A>C (p.Asn1781Thr)
3g.53801233A>GCA353250629CACNA1Dc.5276A>G (p.Asn1759Ser)
n.2215A>G
n.651A>G
c.5216A>G (p.Asn1739Ser)
c.5171A>G (p.Asn1724Ser)
c.1337A>G
n.572A>G
n.643A>G
c.5243A>G (p.Asn1748Ser)
c.4295A>G (p.Asn1432Ser)
c.5471A>G (p.Asn1824Ser)
c.5360A>G (p.Asn1787Ser)
c.5282A>G (p.Asn1761Ser)
c.4934A>G (p.Asn1645Ser)
c.4559A>G (p.Asn1520Ser)
c.5366A>G (p.Asn1789Ser)
c.5468A>G (p.Asn1823Ser)
c.5411A>G (p.Asn1804Ser)
c.5387A>G (p.Asn1796Ser)
c.5342A>G (p.Asn1781Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.53801233A>TCA353250630CACNA1Dc.5276A>T (p.Asn1759Ile)
n.2215A>T
n.651A>T
c.5216A>T (p.Asn1739Ile)
c.5171A>T (p.Asn1724Ile)
c.1337A>T
n.572A>T
n.643A>T
c.5243A>T (p.Asn1748Ile)
c.4295A>T (p.Asn1432Ile)
c.5471A>T (p.Asn1824Ile)
c.5360A>T (p.Asn1787Ile)
c.5282A>T (p.Asn1761Ile)
c.4934A>T (p.Asn1645Ile)
c.4559A>T (p.Asn1520Ile)
c.5366A>T (p.Asn1789Ile)
c.5468A>T (p.Asn1823Ile)
c.5411A>T (p.Asn1804Ile)
c.5387A>T (p.Asn1796Ile)
c.5342A>T (p.Asn1781Ile)
3g.53801234C>ACA353250633CACNA1Dc.5277C>A (p.Asn1759Lys)
n.2216C>A
n.652C>A
c.5217C>A (p.Asn1739Lys)
c.5172C>A (p.Asn1724Lys)
c.1338C>A
n.573C>A
n.644C>A
c.5244C>A (p.Asn1748Lys)
c.4296C>A (p.Asn1432Lys)
c.5472C>A (p.Asn1824Lys)
c.5361C>A (p.Asn1787Lys)
c.5283C>A (p.Asn1761Lys)
c.4935C>A (p.Asn1645Lys)
c.4560C>A (p.Asn1520Lys)
c.5367C>A (p.Asn1789Lys)
c.5469C>A (p.Asn1823Lys)
c.5412C>A (p.Asn1804Lys)
c.5388C>A (p.Asn1796Lys)
c.5343C>A (p.Asn1781Lys)
3g.53801234C>GCA353250635CACNA1Dc.5277C>G (p.Asn1759Lys)
n.2216C>G
n.652C>G
c.5217C>G (p.Asn1739Lys)
c.5172C>G (p.Asn1724Lys)
c.1338C>G
n.573C>G
n.644C>G
c.5244C>G (p.Asn1748Lys)
c.4296C>G (p.Asn1432Lys)
c.5472C>G (p.Asn1824Lys)
c.5361C>G (p.Asn1787Lys)
c.5283C>G (p.Asn1761Lys)
c.4935C>G (p.Asn1645Lys)
c.4560C>G (p.Asn1520Lys)
c.5367C>G (p.Asn1789Lys)
c.5469C>G (p.Asn1823Lys)
c.5412C>G (p.Asn1804Lys)
c.5388C>G (p.Asn1796Lys)
c.5343C>G (p.Asn1781Lys)
3g.53801234C>TCA433896094CACNA1Dc.5277C>T (p.Asn1759=)
n.2216C>T
n.652C>T
c.5217C>T (p.Asn1739=)
c.5172C>T (p.Asn1724=)
c.1338C>T
n.573C>T
n.644C>T
c.5244C>T (p.Asn1748=)
c.4296C>T (p.Asn1432=)
c.5472C>T (p.Asn1824=)
c.5361C>T (p.Asn1787=)
c.5283C>T (p.Asn1761=)
c.4935C>T (p.Asn1645=)
c.4560C>T (p.Asn1520=)
c.5367C>T (p.Asn1789=)
c.5469C>T (p.Asn1823=)
c.5412C>T (p.Asn1804=)
c.5388C>T (p.Asn1796=)
c.5343C>T (p.Asn1781=)
3g.53801235C>ACA353250638CACNA1Dc.5278C>A (p.His1760Asn)
n.2217C>A
n.653C>A
c.5218C>A (p.His1740Asn)
c.5173C>A (p.His1725Asn)
c.1339C>A
n.574C>A
n.645C>A
c.5245C>A (p.His1749Asn)
c.4297C>A (p.His1433Asn)
c.5473C>A (p.His1825Asn)
c.5362C>A (p.His1788Asn)
c.5284C>A (p.His1762Asn)
c.4936C>A (p.His1646Asn)
c.4561C>A (p.His1521Asn)
c.5368C>A (p.His1790Asn)
c.5470C>A (p.His1824Asn)
c.5413C>A (p.His1805Asn)
c.5389C>A (p.His1797Asn)
c.5344C>A (p.His1782Asn)
3g.53801235C=CA1365484174CACNA1Dc.5278C= (p.His1760=)
n.2217C=
n.653C=
c.5218C= (p.His1740=)
c.5173C= (p.His1725=)
c.1339C=
n.574C=
n.645C=
c.5245C= (p.His1749=)
c.4297C= (p.His1433=)
c.5473C= (p.His1825=)
c.5362C= (p.His1788=)
c.5284C= (p.His1762=)
c.4936C= (p.His1646=)
c.4561C= (p.His1521=)
c.5368C= (p.His1790=)
c.5470C= (p.His1824=)
c.5413C= (p.His1805=)
c.5389C= (p.His1797=)
c.5344C= (p.His1782=)
3g.53801235C>GCA353250639CACNA1Dc.5278C>G (p.His1760Asp)
n.2217C>G
n.653C>G
c.5218C>G (p.His1740Asp)
c.5173C>G (p.His1725Asp)
c.1339C>G
n.574C>G
n.645C>G
c.5245C>G (p.His1749Asp)
c.4297C>G (p.His1433Asp)
c.5473C>G (p.His1825Asp)
c.5362C>G (p.His1788Asp)
c.5284C>G (p.His1762Asp)
c.4936C>G (p.His1646Asp)
c.4561C>G (p.His1521Asp)
c.5368C>G (p.His1790Asp)
c.5470C>G (p.His1824Asp)
c.5413C>G (p.His1805Asp)
c.5389C>G (p.His1797Asp)
c.5344C>G (p.His1782Asp)
3g.53801235C>TCA353250641CACNA1Dc.5278C>T (p.His1760Tyr)
n.2217C>T
n.653C>T
c.5218C>T (p.His1740Tyr)
c.5173C>T (p.His1725Tyr)
c.1339C>T
n.574C>T
n.645C>T
c.5245C>T (p.His1749Tyr)
c.4297C>T (p.His1433Tyr)
c.5473C>T (p.His1825Tyr)
c.5362C>T (p.His1788Tyr)
c.5284C>T (p.His1762Tyr)
c.4936C>T (p.His1646Tyr)
c.4561C>T (p.His1521Tyr)
c.5368C>T (p.His1790Tyr)
c.5470C>T (p.His1824Tyr)
c.5413C>T (p.His1805Tyr)
c.5389C>T (p.His1797Tyr)
c.5344C>T (p.His1782Tyr)
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.53801236A=CA1365484175CACNA1Dc.5279A= (p.His1760=)
n.2218A=
n.654A=
c.5219A= (p.His1740=)
c.5174A= (p.His1725=)
c.1340A=
n.575A=
n.646A=
c.5246A= (p.His1749=)
c.4298A= (p.His1433=)
c.5474A= (p.His1825=)
c.5363A= (p.His1788=)
c.5285A= (p.His1762=)
c.4937A= (p.His1646=)
c.4562A= (p.His1521=)
c.5369A= (p.His1790=)
c.5471A= (p.His1824=)
c.5414A= (p.His1805=)
c.5390A= (p.His1797=)
c.5345A= (p.His1782=)
3g.53801236A>CCA353250643CACNA1Dc.5279A>C (p.His1760Pro)
n.2218A>C
n.654A>C
c.5219A>C (p.His1740Pro)
c.5174A>C (p.His1725Pro)
c.1340A>C
n.575A>C
n.646A>C
c.5246A>C (p.His1749Pro)
c.4298A>C (p.His1433Pro)
c.5474A>C (p.His1825Pro)
c.5363A>C (p.His1788Pro)
c.5285A>C (p.His1762Pro)
c.4937A>C (p.His1646Pro)
c.4562A>C (p.His1521Pro)
c.5369A>C (p.His1790Pro)
c.5471A>C (p.His1824Pro)
c.5414A>C (p.His1805Pro)
c.5390A>C (p.His1797Pro)
c.5345A>C (p.His1782Pro)
3g.53801236A>GCA2455088CACNA1Dc.5279A>G (p.His1760Arg)
n.2218A>G
n.654A>G
c.5219A>G (p.His1740Arg)
c.5174A>G (p.His1725Arg)
c.1340A>G
n.575A>G
n.646A>G
c.5246A>G (p.His1749Arg)
c.4298A>G (p.His1433Arg)
c.5474A>G (p.His1825Arg)
c.5363A>G (p.His1788Arg)
c.5285A>G (p.His1762Arg)
c.4937A>G (p.His1646Arg)
c.4562A>G (p.His1521Arg)
c.5369A>G (p.His1790Arg)
c.5471A>G (p.His1824Arg)
c.5414A>G (p.His1805Arg)
c.5390A>G (p.His1797Arg)
c.5345A>G (p.His1782Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.53801236A>TCA353250646CACNA1Dc.5279A>T (p.His1760Leu)
n.2218A>T
n.654A>T
c.5219A>T (p.His1740Leu)
c.5174A>T (p.His1725Leu)
c.1340A>T
n.575A>T
n.646A>T
c.5246A>T (p.His1749Leu)
c.4298A>T (p.His1433Leu)
c.5474A>T (p.His1825Leu)
c.5363A>T (p.His1788Leu)
c.5285A>T (p.His1762Leu)
c.4937A>T (p.His1646Leu)
c.4562A>T (p.His1521Leu)
c.5369A>T (p.His1790Leu)
c.5471A>T (p.His1824Leu)
c.5414A>T (p.His1805Leu)
c.5390A>T (p.His1797Leu)
c.5345A>T (p.His1782Leu)
3g.53801237T>ACA353250651CACNA1Dc.5280T>A (p.His1760Gln)
n.2219T>A
n.655T>A
c.5220T>A (p.His1740Gln)
c.5175T>A (p.His1725Gln)
c.1341T>A
n.576T>A
n.647T>A
c.5247T>A (p.His1749Gln)
c.4299T>A (p.His1433Gln)
c.5475T>A (p.His1825Gln)
c.5364T>A (p.His1788Gln)
c.5286T>A (p.His1762Gln)
c.4938T>A (p.His1646Gln)
c.4563T>A (p.His1521Gln)
c.5370T>A (p.His1790Gln)
c.5472T>A (p.His1824Gln)
c.5415T>A (p.His1805Gln)
c.5391T>A (p.His1797Gln)
c.5346T>A (p.His1782Gln)
3g.53801237T>CCA433896101CACNA1Dc.5280T>C (p.His1760=)
n.2219T>C
n.655T>C
c.5220T>C (p.His1740=)
c.5175T>C (p.His1725=)
c.1341T>C
n.576T>C
n.647T>C
c.5247T>C (p.His1749=)
c.4299T>C (p.His1433=)
c.5475T>C (p.His1825=)
c.5364T>C (p.His1788=)
c.5286T>C (p.His1762=)
c.4938T>C (p.His1646=)
c.4563T>C (p.His1521=)
c.5370T>C (p.His1790=)
c.5472T>C (p.His1824=)
c.5415T>C (p.His1805=)
c.5391T>C (p.His1797=)
c.5346T>C (p.His1782=)
3g.53801237T>GCA353250649CACNA1Dc.5280T>G (p.His1760Gln)
n.2219T>G
n.655T>G
c.5220T>G (p.His1740Gln)
c.5175T>G (p.His1725Gln)
c.1341T>G
n.576T>G
n.647T>G
c.5247T>G (p.His1749Gln)
c.4299T>G (p.His1433Gln)
c.5475T>G (p.His1825Gln)
c.5364T>G (p.His1788Gln)
c.5286T>G (p.His1762Gln)
c.4938T>G (p.His1646Gln)
c.4563T>G (p.His1521Gln)
c.5370T>G (p.His1790Gln)
c.5472T>G (p.His1824Gln)
c.5415T>G (p.His1805Gln)
c.5391T>G (p.His1797Gln)
c.5346T>G (p.His1782Gln)
3g.53801238C>ACA353250652CACNA1Dc.5281C>A (p.His1761Asn)
n.2220C>A
n.656C>A
c.5221C>A (p.His1741Asn)
c.5176C>A (p.His1726Asn)
c.1342C>A
n.577C>A
n.648C>A
c.5248C>A (p.His1750Asn)
c.4300C>A (p.His1434Asn)
c.5476C>A (p.His1826Asn)
c.5365C>A (p.His1789Asn)
c.5287C>A (p.His1763Asn)
c.4939C>A (p.His1647Asn)
c.4564C>A (p.His1522Asn)
c.5371C>A (p.His1791Asn)
c.5473C>A (p.His1825Asn)
c.5416C>A (p.His1806Asn)
c.5392C>A (p.His1798Asn)
c.5347C>A (p.His1783Asn)
3g.53801238C>GCA353250653CACNA1Dc.5281C>G (p.His1761Asp)
n.2220C>G
n.656C>G
c.5221C>G (p.His1741Asp)
c.5176C>G (p.His1726Asp)
c.1342C>G
n.577C>G
n.648C>G
c.5248C>G (p.His1750Asp)
c.4300C>G (p.His1434Asp)
c.5476C>G (p.His1826Asp)
c.5365C>G (p.His1789Asp)
c.5287C>G (p.His1763Asp)
c.4939C>G (p.His1647Asp)
c.4564C>G (p.His1522Asp)
c.5371C>G (p.His1791Asp)
c.5473C>G (p.His1825Asp)
c.5416C>G (p.His1806Asp)
c.5392C>G (p.His1798Asp)
c.5347C>G (p.His1783Asp)
3g.53801238C>TCA353250654CACNA1Dc.5281C>T (p.His1761Tyr)
n.2220C>T
n.656C>T
c.5221C>T (p.His1741Tyr)
c.5176C>T (p.His1726Tyr)
c.1342C>T
n.577C>T
n.648C>T
c.5248C>T (p.His1750Tyr)
c.4300C>T (p.His1434Tyr)
c.5476C>T (p.His1826Tyr)
c.5365C>T (p.His1789Tyr)
c.5287C>T (p.His1763Tyr)
c.4939C>T (p.His1647Tyr)
c.4564C>T (p.His1522Tyr)
c.5371C>T (p.His1791Tyr)
c.5473C>T (p.His1825Tyr)
c.5416C>T (p.His1806Tyr)
c.5392C>T (p.His1798Tyr)
c.5347C>T (p.His1783Tyr)
3g.53801239A>CCA353250656CACNA1Dc.5282A>C (p.His1761Pro)
n.2221A>C
n.657A>C
c.5222A>C (p.His1741Pro)
c.5177A>C (p.His1726Pro)
c.1343A>C
n.578A>C
n.649A>C
c.5249A>C (p.His1750Pro)
c.4301A>C (p.His1434Pro)
c.5477A>C (p.His1826Pro)
c.5366A>C (p.His1789Pro)
c.5288A>C (p.His1763Pro)
c.4940A>C (p.His1647Pro)
c.4565A>C (p.His1522Pro)
c.5372A>C (p.His1791Pro)
c.5474A>C (p.His1825Pro)
c.5417A>C (p.His1806Pro)
c.5393A>C (p.His1798Pro)
c.5348A>C (p.His1783Pro)
3g.53801239A>GCA353250657CACNA1Dc.5282A>G (p.His1761Arg)
n.2221A>G
n.657A>G
c.5222A>G (p.His1741Arg)
c.5177A>G (p.His1726Arg)
c.1343A>G
n.578A>G
n.649A>G
c.5249A>G (p.His1750Arg)
c.4301A>G (p.His1434Arg)
c.5477A>G (p.His1826Arg)
c.5366A>G (p.His1789Arg)
c.5288A>G (p.His1763Arg)
c.4940A>G (p.His1647Arg)
c.4565A>G (p.His1522Arg)
c.5372A>G (p.His1791Arg)
c.5474A>G (p.His1825Arg)
c.5417A>G (p.His1806Arg)
c.5393A>G (p.His1798Arg)
c.5348A>G (p.His1783Arg)
 gnomAD v4
3g.53801239A>TCA353250659CACNA1Dc.5282A>T (p.His1761Leu)
n.2221A>T
n.657A>T
c.5222A>T (p.His1741Leu)
c.5177A>T (p.His1726Leu)
c.1343A>T
n.578A>T
n.649A>T
c.5249A>T (p.His1750Leu)
c.4301A>T (p.His1434Leu)
c.5477A>T (p.His1826Leu)
c.5366A>T (p.His1789Leu)
c.5288A>T (p.His1763Leu)
c.4940A>T (p.His1647Leu)
c.4565A>T (p.His1522Leu)
c.5372A>T (p.His1791Leu)
c.5474A>T (p.His1825Leu)
c.5417A>T (p.His1806Leu)
c.5393A>T (p.His1798Leu)
c.5348A>T (p.His1783Leu)
3g.53801240T>ACA353250661CACNA1Dc.5283T>A (p.His1761Gln)
n.2222T>A
n.658T>A
c.5223T>A (p.His1741Gln)
c.5178T>A (p.His1726Gln)
c.1344T>A
n.579T>A
n.650T>A
c.5250T>A (p.His1750Gln)
c.4302T>A (p.His1434Gln)
c.5478T>A (p.His1826Gln)
c.5367T>A (p.His1789Gln)
c.5289T>A (p.His1763Gln)
c.4941T>A (p.His1647Gln)
c.4566T>A (p.His1522Gln)
c.5373T>A (p.His1791Gln)
c.5475T>A (p.His1825Gln)
c.5418T>A (p.His1806Gln)
c.5394T>A (p.His1798Gln)
c.5349T>A (p.His1783Gln)
3g.53801240T>CCA433896105CACNA1Dc.5283T>C (p.His1761=)
n.2222T>C
n.658T>C
c.5223T>C (p.His1741=)
c.5178T>C (p.His1726=)
c.1344T>C
n.579T>C
n.650T>C
c.5250T>C (p.His1750=)
c.4302T>C (p.His1434=)
c.5478T>C (p.His1826=)
c.5367T>C (p.His1789=)
c.5289T>C (p.His1763=)
c.4941T>C (p.His1647=)
c.4566T>C (p.His1522=)
c.5373T>C (p.His1791=)
c.5475T>C (p.His1825=)
c.5418T>C (p.His1806=)
c.5394T>C (p.His1798=)
c.5349T>C (p.His1783=)
3g.53801240T>GCA353250663CACNA1Dc.5283T>G (p.His1761Gln)
n.2222T>G
n.658T>G
c.5223T>G (p.His1741Gln)
c.5178T>G (p.His1726Gln)
c.1344T>G
n.579T>G
n.650T>G
c.5250T>G (p.His1750Gln)
c.4302T>G (p.His1434Gln)
c.5478T>G (p.His1826Gln)
c.5367T>G (p.His1789Gln)
c.5289T>G (p.His1763Gln)
c.4941T>G (p.His1647Gln)
c.4566T>G (p.His1522Gln)
c.5373T>G (p.His1791Gln)
c.5475T>G (p.His1825Gln)
c.5418T>G (p.His1806Gln)
c.5394T>G (p.His1798Gln)
c.5349T>G (p.His1783Gln)
3g.53801241A>CCA353250665CACNA1Dc.5284A>C (p.Asn1762His)
n.2223A>C
n.659A>C
c.5224A>C (p.Asn1742His)
c.5179A>C (p.Asn1727His)
c.1345A>C
n.580A>C
n.651A>C
c.5251A>C (p.Asn1751His)
c.4303A>C (p.Asn1435His)
c.5479A>C (p.Asn1827His)
c.5368A>C (p.Asn1790His)
c.5290A>C (p.Asn1764His)
c.4942A>C (p.Asn1648His)
c.4567A>C (p.Asn1523His)
c.5374A>C (p.Asn1792His)
c.5476A>C (p.Asn1826His)
c.5419A>C (p.Asn1807His)
c.5395A>C (p.Asn1799His)
c.5350A>C (p.Asn1784His)
3g.53801241A>GCA353250667CACNA1Dc.5284A>G (p.Asn1762Asp)
n.2223A>G
n.659A>G
c.5224A>G (p.Asn1742Asp)
c.5179A>G (p.Asn1727Asp)
c.1345A>G
n.580A>G
n.651A>G
c.5251A>G (p.Asn1751Asp)
c.4303A>G (p.Asn1435Asp)
c.5479A>G (p.Asn1827Asp)
c.5368A>G (p.Asn1790Asp)
c.5290A>G (p.Asn1764Asp)
c.4942A>G (p.Asn1648Asp)
c.4567A>G (p.Asn1523Asp)
c.5374A>G (p.Asn1792Asp)
c.5476A>G (p.Asn1826Asp)
c.5419A>G (p.Asn1807Asp)
c.5395A>G (p.Asn1799Asp)
c.5350A>G (p.Asn1784Asp)
3g.53801241A>TCA353250669CACNA1Dc.5284A>T (p.Asn1762Tyr)
n.2223A>T
n.659A>T
c.5224A>T (p.Asn1742Tyr)
c.5179A>T (p.Asn1727Tyr)
c.1345A>T
n.580A>T
n.651A>T
c.5251A>T (p.Asn1751Tyr)
c.4303A>T (p.Asn1435Tyr)
c.5479A>T (p.Asn1827Tyr)
c.5368A>T (p.Asn1790Tyr)
c.5290A>T (p.Asn1764Tyr)
c.4942A>T (p.Asn1648Tyr)
c.4567A>T (p.Asn1523Tyr)
c.5374A>T (p.Asn1792Tyr)
c.5476A>T (p.Asn1826Tyr)
c.5419A>T (p.Asn1807Tyr)
c.5395A>T (p.Asn1799Tyr)
c.5350A>T (p.Asn1784Tyr)
3g.53801242A>CCA353250671CACNA1Dc.5285A>C (p.Asn1762Thr)
n.2224A>C
n.660A>C
c.5225A>C (p.Asn1742Thr)
c.5180A>C (p.Asn1727Thr)
c.1346A>C
n.581A>C
n.652A>C
c.5252A>C (p.Asn1751Thr)
c.4304A>C (p.Asn1435Thr)
c.5480A>C (p.Asn1827Thr)
c.5369A>C (p.Asn1790Thr)
c.5291A>C (p.Asn1764Thr)
c.4943A>C (p.Asn1648Thr)
c.4568A>C (p.Asn1523Thr)
c.5375A>C (p.Asn1792Thr)
c.5477A>C (p.Asn1826Thr)
c.5420A>C (p.Asn1807Thr)
c.5396A>C (p.Asn1799Thr)
c.5351A>C (p.Asn1784Thr)
3g.53801242A>GCA353250673CACNA1Dc.5285A>G (p.Asn1762Ser)
n.2224A>G
n.660A>G
c.5225A>G (p.Asn1742Ser)
c.5180A>G (p.Asn1727Ser)
c.1346A>G
n.581A>G
n.652A>G
c.5252A>G (p.Asn1751Ser)
c.4304A>G (p.Asn1435Ser)
c.5480A>G (p.Asn1827Ser)
c.5369A>G (p.Asn1790Ser)
c.5291A>G (p.Asn1764Ser)
c.4943A>G (p.Asn1648Ser)
c.4568A>G (p.Asn1523Ser)
c.5375A>G (p.Asn1792Ser)
c.5477A>G (p.Asn1826Ser)
c.5420A>G (p.Asn1807Ser)
c.5396A>G (p.Asn1799Ser)
c.5351A>G (p.Asn1784Ser)
3g.53801242A>TCA353250675CACNA1Dc.5285A>T (p.Asn1762Ile)
n.2224A>T
n.660A>T
c.5225A>T (p.Asn1742Ile)
c.5180A>T (p.Asn1727Ile)
c.1346A>T
n.581A>T
n.652A>T
c.5252A>T (p.Asn1751Ile)
c.4304A>T (p.Asn1435Ile)
c.5480A>T (p.Asn1827Ile)
c.5369A>T (p.Asn1790Ile)
c.5291A>T (p.Asn1764Ile)
c.4943A>T (p.Asn1648Ile)
c.4568A>T (p.Asn1523Ile)
c.5375A>T (p.Asn1792Ile)
c.5477A>T (p.Asn1826Ile)
c.5420A>T (p.Asn1807Ile)
c.5396A>T (p.Asn1799Ile)
c.5351A>T (p.Asn1784Ile)
3g.53801243C>ACA353250679CACNA1Dc.5286C>A (p.Asn1762Lys)
n.2225C>A
n.661C>A
c.5226C>A (p.Asn1742Lys)
c.5181C>A (p.Asn1727Lys)
c.1347C>A
n.582C>A
n.653C>A
c.5253C>A (p.Asn1751Lys)
c.4305C>A (p.Asn1435Lys)
c.5481C>A (p.Asn1827Lys)
c.5370C>A (p.Asn1790Lys)
c.5292C>A (p.Asn1764Lys)
c.4944C>A (p.Asn1648Lys)
c.4569C>A (p.Asn1523Lys)
c.5376C>A (p.Asn1792Lys)
c.5478C>A (p.Asn1826Lys)
c.5421C>A (p.Asn1807Lys)
c.5397C>A (p.Asn1799Lys)
c.5352C>A (p.Asn1784Lys)
3g.53801243C>GCA353250677CACNA1Dc.5286C>G (p.Asn1762Lys)
n.2225C>G
n.661C>G
c.5226C>G (p.Asn1742Lys)
c.5181C>G (p.Asn1727Lys)
c.1347C>G
n.582C>G
n.653C>G
c.5253C>G (p.Asn1751Lys)
c.4305C>G (p.Asn1435Lys)
c.5481C>G (p.Asn1827Lys)
c.5370C>G (p.Asn1790Lys)
c.5292C>G (p.Asn1764Lys)
c.4944C>G (p.Asn1648Lys)
c.4569C>G (p.Asn1523Lys)
c.5376C>G (p.Asn1792Lys)
c.5478C>G (p.Asn1826Lys)
c.5421C>G (p.Asn1807Lys)
c.5397C>G (p.Asn1799Lys)
c.5352C>G (p.Asn1784Lys)
3g.53801243C>TCA433896109CACNA1Dc.5286C>T (p.Asn1762=)
n.2225C>T
n.661C>T
c.5226C>T (p.Asn1742=)
c.5181C>T (p.Asn1727=)
c.1347C>T
n.582C>T
n.653C>T
c.5253C>T (p.Asn1751=)
c.4305C>T (p.Asn1435=)
c.5481C>T (p.Asn1827=)
c.5370C>T (p.Asn1790=)
c.5292C>T (p.Asn1764=)
c.4944C>T (p.Asn1648=)
c.4569C>T (p.Asn1523=)
c.5376C>T (p.Asn1792=)
c.5478C>T (p.Asn1826=)
c.5421C>T (p.Asn1807=)
c.5397C>T (p.Asn1799=)
c.5352C>T (p.Asn1784=)
3g.53801244C>ACA353250681CACNA1Dc.5287C>A (p.His1763Asn)
n.2226C>A
n.662C>A
c.5227C>A (p.His1743Asn)
c.5182C>A (p.His1728Asn)
c.1348C>A
n.583C>A
n.654C>A
c.5254C>A (p.His1752Asn)
c.4306C>A (p.His1436Asn)
c.5482C>A (p.His1828Asn)
c.5371C>A (p.His1791Asn)
c.5293C>A (p.His1765Asn)
c.4945C>A (p.His1649Asn)
c.4570C>A (p.His1524Asn)
c.5377C>A (p.His1793Asn)
c.5479C>A (p.His1827Asn)
c.5422C>A (p.His1808Asn)
c.5398C>A (p.His1800Asn)
c.5353C>A (p.His1785Asn)
3g.53801244C>GCA353250683CACNA1Dc.5287C>G (p.His1763Asp)
n.2226C>G
n.662C>G
c.5227C>G (p.His1743Asp)
c.5182C>G (p.His1728Asp)
c.1348C>G
n.583C>G
n.654C>G
c.5254C>G (p.His1752Asp)
c.4306C>G (p.His1436Asp)
c.5482C>G (p.His1828Asp)
c.5371C>G (p.His1791Asp)
c.5293C>G (p.His1765Asp)
c.4945C>G (p.His1649Asp)
c.4570C>G (p.His1524Asp)
c.5377C>G (p.His1793Asp)
c.5479C>G (p.His1827Asp)
c.5422C>G (p.His1808Asp)
c.5398C>G (p.His1800Asp)
c.5353C>G (p.His1785Asp)
3g.53801244C>TCA353250685CACNA1Dc.5287C>T (p.His1763Tyr)
n.2226C>T
n.662C>T
c.5227C>T (p.His1743Tyr)
c.5182C>T (p.His1728Tyr)
c.1348C>T
n.583C>T
n.654C>T
c.5254C>T (p.His1752Tyr)
c.4306C>T (p.His1436Tyr)
c.5482C>T (p.His1828Tyr)
c.5371C>T (p.His1791Tyr)
c.5293C>T (p.His1765Tyr)
c.4945C>T (p.His1649Tyr)
c.4570C>T (p.His1524Tyr)
c.5377C>T (p.His1793Tyr)
c.5479C>T (p.His1827Tyr)
c.5422C>T (p.His1808Tyr)
c.5398C>T (p.His1800Tyr)
c.5353C>T (p.His1785Tyr)
3g.53801245A=CA1365484176CACNA1Dc.5288A= (p.His1763=)
n.2227A=
n.663A=
c.5228A= (p.His1743=)
c.5183A= (p.His1728=)
c.1349A=
n.584A=
n.655A=
c.5255A= (p.His1752=)
c.4307A= (p.His1436=)
c.5483A= (p.His1828=)
c.5372A= (p.His1791=)
c.5294A= (p.His1765=)
c.4946A= (p.His1649=)
c.4571A= (p.His1524=)
c.5378A= (p.His1793=)
c.5480A= (p.His1827=)
c.5423A= (p.His1808=)
c.5399A= (p.His1800=)
c.5354A= (p.His1785=)
3g.53801245A>CCA353250687CACNA1Dc.5288A>C (p.His1763Pro)
n.2227A>C
n.663A>C
c.5228A>C (p.His1743Pro)
c.5183A>C (p.His1728Pro)
c.1349A>C
n.584A>C
n.655A>C
c.5255A>C (p.His1752Pro)
c.4307A>C (p.His1436Pro)
c.5483A>C (p.His1828Pro)
c.5372A>C (p.His1791Pro)
c.5294A>C (p.His1765Pro)
c.4946A>C (p.His1649Pro)
c.4571A>C (p.His1524Pro)
c.5378A>C (p.His1793Pro)
c.5480A>C (p.His1827Pro)
c.5423A>C (p.His1808Pro)
c.5399A>C (p.His1800Pro)
c.5354A>C (p.His1785Pro)
3g.53801245A>GCA353250689CACNA1Dc.5288A>G (p.His1763Arg)
n.2227A>G
n.663A>G
c.5228A>G (p.His1743Arg)
c.5183A>G (p.His1728Arg)
c.1349A>G
n.584A>G
n.655A>G
c.5255A>G (p.His1752Arg)
c.4307A>G (p.His1436Arg)
c.5483A>G (p.His1828Arg)
c.5372A>G (p.His1791Arg)
c.5294A>G (p.His1765Arg)
c.4946A>G (p.His1649Arg)
c.4571A>G (p.His1524Arg)
c.5378A>G (p.His1793Arg)
c.5480A>G (p.His1827Arg)
c.5423A>G (p.His1808Arg)
c.5399A>G (p.His1800Arg)
c.5354A>G (p.His1785Arg)
 dbSNP
3g.53801245A>TCA353250691CACNA1Dc.5288A>T (p.His1763Leu)
n.2227A>T
n.663A>T
c.5228A>T (p.His1743Leu)
c.5183A>T (p.His1728Leu)
c.1349A>T
n.584A>T
n.655A>T
c.5255A>T (p.His1752Leu)
c.4307A>T (p.His1436Leu)
c.5483A>T (p.His1828Leu)
c.5372A>T (p.His1791Leu)
c.5294A>T (p.His1765Leu)
c.4946A>T (p.His1649Leu)
c.4571A>T (p.His1524Leu)
c.5378A>T (p.His1793Leu)
c.5480A>T (p.His1827Leu)
c.5423A>T (p.His1808Leu)
c.5399A>T (p.His1800Leu)
c.5354A>T (p.His1785Leu)
3g.53801246T>ACA353250692CACNA1Dc.5289T>A (p.His1763Gln)
n.2228T>A
n.664T>A
c.5229T>A (p.His1743Gln)
c.5184T>A (p.His1728Gln)
c.1350T>A
n.585T>A
n.656T>A
c.5256T>A (p.His1752Gln)
c.4308T>A (p.His1436Gln)
c.5484T>A (p.His1828Gln)
c.5373T>A (p.His1791Gln)
c.5295T>A (p.His1765Gln)
c.4947T>A (p.His1649Gln)
c.4572T>A (p.His1524Gln)
c.5379T>A (p.His1793Gln)
c.5481T>A (p.His1827Gln)
c.5424T>A (p.His1808Gln)
c.5400T>A (p.His1800Gln)
c.5355T>A (p.His1785Gln)
3g.53801246T>CCA433896112CACNA1Dc.5289T>C (p.His1763=)
n.2228T>C
n.664T>C
c.5229T>C (p.His1743=)
c.5184T>C (p.His1728=)
c.1350T>C
n.585T>C
n.656T>C
c.5256T>C (p.His1752=)
c.4308T>C (p.His1436=)
c.5484T>C (p.His1828=)
c.5373T>C (p.His1791=)
c.5295T>C (p.His1765=)
c.4947T>C (p.His1649=)
c.4572T>C (p.His1524=)
c.5379T>C (p.His1793=)
c.5481T>C (p.His1827=)
c.5424T>C (p.His1808=)
c.5400T>C (p.His1800=)
c.5355T>C (p.His1785=)
3g.53801246T>GCA353250693CACNA1Dc.5289T>G (p.His1763Gln)
n.2228T>G
n.664T>G
c.5229T>G (p.His1743Gln)
c.5184T>G (p.His1728Gln)
c.1350T>G
n.585T>G
n.656T>G
c.5256T>G (p.His1752Gln)
c.4308T>G (p.His1436Gln)
c.5484T>G (p.His1828Gln)
c.5373T>G (p.His1791Gln)
c.5295T>G (p.His1765Gln)
c.4947T>G (p.His1649Gln)
c.4572T>G (p.His1524Gln)
c.5379T>G (p.His1793Gln)
c.5481T>G (p.His1827Gln)
c.5424T>G (p.His1808Gln)
c.5400T>G (p.His1800Gln)
c.5355T>G (p.His1785Gln)
3g.53801247A>CCA353250695CACNA1Dc.5290A>C (p.Asn1764His)
n.2229A>C
n.665A>C
c.5230A>C (p.Asn1744His)
c.5185A>C (p.Asn1729His)
c.1351A>C
n.586A>C
n.657A>C
c.5257A>C (p.Asn1753His)
c.4309A>C (p.Asn1437His)
c.5485A>C (p.Asn1829His)
c.5374A>C (p.Asn1792His)
c.5296A>C (p.Asn1766His)
c.4948A>C (p.Asn1650His)
c.4573A>C (p.Asn1525His)
c.5380A>C (p.Asn1794His)
c.5482A>C (p.Asn1828His)
c.5425A>C (p.Asn1809His)
c.5401A>C (p.Asn1801His)
c.5356A>C (p.Asn1786His)
3g.53801247A>GCA353250697CACNA1Dc.5290A>G (p.Asn1764Asp)
n.2229A>G
n.665A>G
c.5230A>G (p.Asn1744Asp)
c.5185A>G (p.Asn1729Asp)
c.1351A>G
n.586A>G
n.657A>G
c.5257A>G (p.Asn1753Asp)
c.4309A>G (p.Asn1437Asp)
c.5485A>G (p.Asn1829Asp)
c.5374A>G (p.Asn1792Asp)
c.5296A>G (p.Asn1766Asp)
c.4948A>G (p.Asn1650Asp)
c.4573A>G (p.Asn1525Asp)
c.5380A>G (p.Asn1794Asp)
c.5482A>G (p.Asn1828Asp)
c.5425A>G (p.Asn1809Asp)
c.5401A>G (p.Asn1801Asp)
c.5356A>G (p.Asn1786Asp)
3g.53801247A>TCA353250698CACNA1Dc.5290A>T (p.Asn1764Tyr)
n.2229A>T
n.665A>T
c.5230A>T (p.Asn1744Tyr)
c.5185A>T (p.Asn1729Tyr)
c.1351A>T
n.586A>T
n.657A>T
c.5257A>T (p.Asn1753Tyr)
c.4309A>T (p.Asn1437Tyr)
c.5485A>T (p.Asn1829Tyr)
c.5374A>T (p.Asn1792Tyr)
c.5296A>T (p.Asn1766Tyr)
c.4948A>T (p.Asn1650Tyr)
c.4573A>T (p.Asn1525Tyr)
c.5380A>T (p.Asn1794Tyr)
c.5482A>T (p.Asn1828Tyr)
c.5425A>T (p.Asn1809Tyr)
c.5401A>T (p.Asn1801Tyr)
c.5356A>T (p.Asn1786Tyr)
3g.53801248A>CCA353250700CACNA1Dc.5291A>C (p.Asn1764Thr)
n.2230A>C
n.666A>C
c.5231A>C (p.Asn1744Thr)
c.5186A>C (p.Asn1729Thr)
c.1352A>C
n.587A>C
n.658A>C
c.5258A>C (p.Asn1753Thr)
c.4310A>C (p.Asn1437Thr)
c.5486A>C (p.Asn1829Thr)
c.5375A>C (p.Asn1792Thr)
c.5297A>C (p.Asn1766Thr)
c.4949A>C (p.Asn1650Thr)
c.4574A>C (p.Asn1525Thr)
c.5381A>C (p.Asn1794Thr)
c.5483A>C (p.Asn1828Thr)
c.5426A>C (p.Asn1809Thr)
c.5402A>C (p.Asn1801Thr)
c.5357A>C (p.Asn1786Thr)
3g.53801248A>GCA353250702CACNA1Dc.5291A>G (p.Asn1764Ser)
n.2230A>G
n.666A>G
c.5231A>G (p.Asn1744Ser)
c.5186A>G (p.Asn1729Ser)
c.1352A>G
n.587A>G
n.658A>G
c.5258A>G (p.Asn1753Ser)
c.4310A>G (p.Asn1437Ser)
c.5486A>G (p.Asn1829Ser)
c.5375A>G (p.Asn1792Ser)
c.5297A>G (p.Asn1766Ser)
c.4949A>G (p.Asn1650Ser)
c.4574A>G (p.Asn1525Ser)
c.5381A>G (p.Asn1794Ser)
c.5483A>G (p.Asn1828Ser)
c.5426A>G (p.Asn1809Ser)
c.5402A>G (p.Asn1801Ser)
c.5357A>G (p.Asn1786Ser)
3g.53801248A>TCA353250704CACNA1Dc.5291A>T (p.Asn1764Ile)
n.2230A>T
n.666A>T
c.5231A>T (p.Asn1744Ile)
c.5186A>T (p.Asn1729Ile)
c.1352A>T
n.587A>T
n.658A>T
c.5258A>T (p.Asn1753Ile)
c.4310A>T (p.Asn1437Ile)
c.5486A>T (p.Asn1829Ile)
c.5375A>T (p.Asn1792Ile)
c.5297A>T (p.Asn1766Ile)
c.4949A>T (p.Asn1650Ile)
c.4574A>T (p.Asn1525Ile)
c.5381A>T (p.Asn1794Ile)
c.5483A>T (p.Asn1828Ile)
c.5426A>T (p.Asn1809Ile)
c.5402A>T (p.Asn1801Ile)
c.5357A>T (p.Asn1786Ile)
3g.53801249T>ACA353250708CACNA1Dc.5292T>A (p.Asn1764Lys)
n.2231T>A
n.667T>A
c.5232T>A (p.Asn1744Lys)
c.5187T>A (p.Asn1729Lys)
c.1353T>A
n.588T>A
n.659T>A
c.5259T>A (p.Asn1753Lys)
c.4311T>A (p.Asn1437Lys)
c.5487T>A (p.Asn1829Lys)
c.5376T>A (p.Asn1792Lys)
c.5298T>A (p.Asn1766Lys)
c.4950T>A (p.Asn1650Lys)
c.4575T>A (p.Asn1525Lys)
c.5382T>A (p.Asn1794Lys)
c.5484T>A (p.Asn1828Lys)
c.5427T>A (p.Asn1809Lys)
c.5403T>A (p.Asn1801Lys)
c.5358T>A (p.Asn1786Lys)
3g.53801249T>CCA433896117CACNA1Dc.5292T>C (p.Asn1764=)
n.2231T>C
n.667T>C
c.5232T>C (p.Asn1744=)
c.5187T>C (p.Asn1729=)
c.1353T>C
n.588T>C
n.659T>C
c.5259T>C (p.Asn1753=)
c.4311T>C (p.Asn1437=)
c.5487T>C (p.Asn1829=)
c.5376T>C (p.Asn1792=)
c.5298T>C (p.Asn1766=)
c.4950T>C (p.Asn1650=)
c.4575T>C (p.Asn1525=)
c.5382T>C (p.Asn1794=)
c.5484T>C (p.Asn1828=)
c.5427T>C (p.Asn1809=)
c.5403T>C (p.Asn1801=)
c.5358T>C (p.Asn1786=)
3g.53801249T>GCA353250706CACNA1Dc.5292T>G (p.Asn1764Lys)
n.2231T>G
n.667T>G
c.5232T>G (p.Asn1744Lys)
c.5187T>G (p.Asn1729Lys)
c.1353T>G
n.588T>G
n.659T>G
c.5259T>G (p.Asn1753Lys)
c.4311T>G (p.Asn1437Lys)
c.5487T>G (p.Asn1829Lys)
c.5376T>G (p.Asn1792Lys)
c.5298T>G (p.Asn1766Lys)
c.4950T>G (p.Asn1650Lys)
c.4575T>G (p.Asn1525Lys)
c.5382T>G (p.Asn1794Lys)
c.5484T>G (p.Asn1828Lys)
c.5427T>G (p.Asn1809Lys)
c.5403T>G (p.Asn1801Lys)
c.5358T>G (p.Asn1786Lys)
3g.53801250T>ACA353250710CACNA1Dc.5293T>A (p.Ser1765Thr)
n.2232T>A
n.668T>A
c.5233T>A (p.Ser1745Thr)
c.5188T>A (p.Ser1730Thr)
c.1354T>A
n.589T>A
n.660T>A
c.5260T>A (p.Ser1754Thr)
c.4312T>A (p.Ser1438Thr)
c.5488T>A (p.Ser1830Thr)
c.5377T>A (p.Ser1793Thr)
c.5299T>A (p.Ser1767Thr)
c.4951T>A (p.Ser1651Thr)
c.4576T>A (p.Ser1526Thr)
c.5383T>A (p.Ser1795Thr)
c.5485T>A (p.Ser1829Thr)
c.5428T>A (p.Ser1810Thr)
c.5404T>A (p.Ser1802Thr)
c.5359T>A (p.Ser1787Thr)
3g.53801250T>CCA353250712CACNA1Dc.5293T>C (p.Ser1765Pro)
n.2232T>C
n.668T>C
c.5233T>C (p.Ser1745Pro)
c.5188T>C (p.Ser1730Pro)
c.1354T>C
n.589T>C
n.660T>C
c.5260T>C (p.Ser1754Pro)
c.4312T>C (p.Ser1438Pro)
c.5488T>C (p.Ser1830Pro)
c.5377T>C (p.Ser1793Pro)
c.5299T>C (p.Ser1767Pro)
c.4951T>C (p.Ser1651Pro)
c.4576T>C (p.Ser1526Pro)
c.5383T>C (p.Ser1795Pro)
c.5485T>C (p.Ser1829Pro)
c.5428T>C (p.Ser1810Pro)
c.5404T>C (p.Ser1802Pro)
c.5359T>C (p.Ser1787Pro)
3g.53801250T>GCA353250714CACNA1Dc.5293T>G (p.Ser1765Ala)
n.2232T>G
n.668T>G
c.5233T>G (p.Ser1745Ala)
c.5188T>G (p.Ser1730Ala)
c.1354T>G
n.589T>G
n.660T>G
c.5260T>G (p.Ser1754Ala)
c.4312T>G (p.Ser1438Ala)
c.5488T>G (p.Ser1830Ala)
c.5377T>G (p.Ser1793Ala)
c.5299T>G (p.Ser1767Ala)
c.4951T>G (p.Ser1651Ala)
c.4576T>G (p.Ser1526Ala)
c.5383T>G (p.Ser1795Ala)
c.5485T>G (p.Ser1829Ala)
c.5428T>G (p.Ser1810Ala)
c.5404T>G (p.Ser1802Ala)
c.5359T>G (p.Ser1787Ala)
3g.53801251C>ACA353250716CACNA1Dc.5294C>A (p.Ser1765Tyr)
n.2233C>A
n.669C>A
c.5234C>A (p.Ser1745Tyr)
c.5189C>A (p.Ser1730Tyr)
c.1355C>A
n.590C>A
n.661C>A
c.5261C>A (p.Ser1754Tyr)
c.4313C>A (p.Ser1438Tyr)
c.5489C>A (p.Ser1830Tyr)
c.5378C>A (p.Ser1793Tyr)
c.5300C>A (p.Ser1767Tyr)
c.4952C>A (p.Ser1651Tyr)
c.4577C>A (p.Ser1526Tyr)
c.5384C>A (p.Ser1795Tyr)
c.5486C>A (p.Ser1829Tyr)
c.5429C>A (p.Ser1810Tyr)
c.5405C>A (p.Ser1802Tyr)
c.5360C>A (p.Ser1787Tyr)
 gnomAD v4
3g.53801251C>GCA353250717CACNA1Dc.5294C>G (p.Ser1765Cys)
n.2233C>G
n.669C>G
c.5234C>G (p.Ser1745Cys)
c.5189C>G (p.Ser1730Cys)
c.1355C>G
n.590C>G
n.661C>G
c.5261C>G (p.Ser1754Cys)
c.4313C>G (p.Ser1438Cys)
c.5489C>G (p.Ser1830Cys)
c.5378C>G (p.Ser1793Cys)
c.5300C>G (p.Ser1767Cys)
c.4952C>G (p.Ser1651Cys)
c.4577C>G (p.Ser1526Cys)
c.5384C>G (p.Ser1795Cys)
c.5486C>G (p.Ser1829Cys)
c.5429C>G (p.Ser1810Cys)
c.5405C>G (p.Ser1802Cys)
c.5360C>G (p.Ser1787Cys)
3g.53801251C>TCA353250719CACNA1Dc.5294C>T (p.Ser1765Phe)
n.2233C>T
n.669C>T
c.5234C>T (p.Ser1745Phe)
c.5189C>T (p.Ser1730Phe)
c.1355C>T
n.590C>T
n.661C>T
c.5261C>T (p.Ser1754Phe)
c.4313C>T (p.Ser1438Phe)
c.5489C>T (p.Ser1830Phe)
c.5378C>T (p.Ser1793Phe)
c.5300C>T (p.Ser1767Phe)
c.4952C>T (p.Ser1651Phe)
c.4577C>T (p.Ser1526Phe)
c.5384C>T (p.Ser1795Phe)
c.5486C>T (p.Ser1829Phe)
c.5429C>T (p.Ser1810Phe)
c.5405C>T (p.Ser1802Phe)
c.5360C>T (p.Ser1787Phe)
3g.53801252C>ACA433896121CACNA1Dc.5295C>A (p.Ser1765=)
n.2234C>A
n.670C>A
c.5235C>A (p.Ser1745=)
c.5190C>A (p.Ser1730=)
c.1356C>A
n.591C>A
n.662C>A
c.5262C>A (p.Ser1754=)
c.4314C>A (p.Ser1438=)
c.5490C>A (p.Ser1830=)
c.5379C>A (p.Ser1793=)
c.5301C>A (p.Ser1767=)
c.4953C>A (p.Ser1651=)
c.4578C>A (p.Ser1526=)
c.5385C>A (p.Ser1795=)
c.5487C>A (p.Ser1829=)
c.5430C>A (p.Ser1810=)
c.5406C>A (p.Ser1802=)
c.5361C>A (p.Ser1787=)
3g.53801252C=CA1365484177CACNA1Dc.5295C= (p.Ser1765=)
n.2234C=
n.670C=
c.5235C= (p.Ser1745=)
c.5190C= (p.Ser1730=)
c.1356C=
n.591C=
n.662C=
c.5262C= (p.Ser1754=)
c.4314C= (p.Ser1438=)
c.5490C= (p.Ser1830=)
c.5379C= (p.Ser1793=)
c.5301C= (p.Ser1767=)
c.4953C= (p.Ser1651=)
c.4578C= (p.Ser1526=)
c.5385C= (p.Ser1795=)
c.5487C= (p.Ser1829=)
c.5430C= (p.Ser1810=)
c.5406C= (p.Ser1802=)
c.5361C= (p.Ser1787=)
3g.53801252C>GCA433896122CACNA1Dc.5295C>G (p.Ser1765=)
n.2234C>G
n.670C>G
c.5235C>G (p.Ser1745=)
c.5190C>G (p.Ser1730=)
c.1356C>G
n.591C>G
n.662C>G
c.5262C>G (p.Ser1754=)
c.4314C>G (p.Ser1438=)
c.5490C>G (p.Ser1830=)
c.5379C>G (p.Ser1793=)
c.5301C>G (p.Ser1767=)
c.4953C>G (p.Ser1651=)
c.4578C>G (p.Ser1526=)
c.5385C>G (p.Ser1795=)
c.5487C>G (p.Ser1829=)
c.5430C>G (p.Ser1810=)
c.5406C>G (p.Ser1802=)
c.5361C>G (p.Ser1787=)
3g.53801252C>TCA433896123CACNA1Dc.5295C>T (p.Ser1765=)
n.2234C>T
n.670C>T
c.5235C>T (p.Ser1745=)
c.5190C>T (p.Ser1730=)
c.1356C>T
n.591C>T
n.662C>T
c.5262C>T (p.Ser1754=)
c.4314C>T (p.Ser1438=)
c.5490C>T (p.Ser1830=)
c.5379C>T (p.Ser1793=)
c.5301C>T (p.Ser1767=)
c.4953C>T (p.Ser1651=)
c.4578C>T (p.Ser1526=)
c.5385C>T (p.Ser1795=)
c.5487C>T (p.Ser1829=)
c.5430C>T (p.Ser1810=)
c.5406C>T (p.Ser1802=)
c.5361C>T (p.Ser1787=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.53801253A=CA1365484178CACNA1Dc.5296A= (p.Ile1766=)
n.2235A=
n.671A=
c.5236A= (p.Ile1746=)
c.5191A= (p.Ile1731=)
c.1357A=
n.592A=
n.663A=
c.5263A= (p.Ile1755=)
c.4315A= (p.Ile1439=)
c.5491A= (p.Ile1831=)
c.5380A= (p.Ile1794=)
c.5302A= (p.Ile1768=)
c.4954A= (p.Ile1652=)
c.4579A= (p.Ile1527=)
c.5386A= (p.Ile1796=)
c.5488A= (p.Ile1830=)
c.5431A= (p.Ile1811=)
c.5407A= (p.Ile1803=)
c.5362A= (p.Ile1788=)
3g.53801253A>CCA353250721CACNA1Dc.5296A>C (p.Ile1766Leu)
n.2235A>C
n.671A>C
c.5236A>C (p.Ile1746Leu)
c.5191A>C (p.Ile1731Leu)
c.1357A>C
n.592A>C
n.663A>C
c.5263A>C (p.Ile1755Leu)
c.4315A>C (p.Ile1439Leu)
c.5491A>C (p.Ile1831Leu)
c.5380A>C (p.Ile1794Leu)
c.5302A>C (p.Ile1768Leu)
c.4954A>C (p.Ile1652Leu)
c.4579A>C (p.Ile1527Leu)
c.5386A>C (p.Ile1796Leu)
c.5488A>C (p.Ile1830Leu)
c.5431A>C (p.Ile1811Leu)
c.5407A>C (p.Ile1803Leu)
c.5362A>C (p.Ile1788Leu)
3g.53801253A>GCA2455089CACNA1Dc.5296A>G (p.Ile1766Val)
n.2235A>G
n.671A>G
c.5236A>G (p.Ile1746Val)
c.5191A>G (p.Ile1731Val)
c.1357A>G
n.592A>G
n.663A>G
c.5263A>G (p.Ile1755Val)
c.4315A>G (p.Ile1439Val)
c.5491A>G (p.Ile1831Val)
c.5380A>G (p.Ile1794Val)
c.5302A>G (p.Ile1768Val)
c.4954A>G (p.Ile1652Val)
c.4579A>G (p.Ile1527Val)
c.5386A>G (p.Ile1796Val)
c.5488A>G (p.Ile1830Val)
c.5431A>G (p.Ile1811Val)
c.5407A>G (p.Ile1803Val)
c.5362A>G (p.Ile1788Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.53801253A>TCA353250724CACNA1Dc.5296A>T (p.Ile1766Leu)
n.2235A>T
n.671A>T
c.5236A>T (p.Ile1746Leu)
c.5191A>T (p.Ile1731Leu)
c.1357A>T
n.592A>T
n.663A>T
c.5263A>T (p.Ile1755Leu)
c.4315A>T (p.Ile1439Leu)
c.5491A>T (p.Ile1831Leu)
c.5380A>T (p.Ile1794Leu)
c.5302A>T (p.Ile1768Leu)
c.4954A>T (p.Ile1652Leu)
c.4579A>T (p.Ile1527Leu)
c.5386A>T (p.Ile1796Leu)
c.5488A>T (p.Ile1830Leu)
c.5431A>T (p.Ile1811Leu)
c.5407A>T (p.Ile1803Leu)
c.5362A>T (p.Ile1788Leu)
3g.53801254T>ACA353250727CACNA1Dc.5297T>A (p.Ile1766Lys)
n.2236T>A
n.672T>A
c.5237T>A (p.Ile1746Lys)
c.5192T>A (p.Ile1731Lys)
c.1358T>A
n.593T>A
n.664T>A
c.5264T>A (p.Ile1755Lys)
c.4316T>A (p.Ile1439Lys)
c.5492T>A (p.Ile1831Lys)
c.5381T>A (p.Ile1794Lys)
c.5303T>A (p.Ile1768Lys)
c.4955T>A (p.Ile1652Lys)
c.4580T>A (p.Ile1527Lys)
c.5387T>A (p.Ile1796Lys)
c.5489T>A (p.Ile1830Lys)
c.5432T>A (p.Ile1811Lys)
c.5408T>A (p.Ile1803Lys)
c.5363T>A (p.Ile1788Lys)
 ClinVar
3g.53801254T>CCA353250729CACNA1Dc.5297T>C (p.Ile1766Thr)
n.2236T>C
n.672T>C
c.5237T>C (p.Ile1746Thr)
c.5192T>C (p.Ile1731Thr)
c.1358T>C
n.593T>C
n.664T>C
c.5264T>C (p.Ile1755Thr)
c.4316T>C (p.Ile1439Thr)
c.5492T>C (p.Ile1831Thr)
c.5381T>C (p.Ile1794Thr)
c.5303T>C (p.Ile1768Thr)
c.4955T>C (p.Ile1652Thr)
c.4580T>C (p.Ile1527Thr)
c.5387T>C (p.Ile1796Thr)
c.5489T>C (p.Ile1830Thr)
c.5432T>C (p.Ile1811Thr)
c.5408T>C (p.Ile1803Thr)
c.5363T>C (p.Ile1788Thr)
 dbSNP gnomAD v4
3g.53801254T>GCA353250730CACNA1Dc.5297T>G (p.Ile1766Arg)
n.2236T>G
n.672T>G
c.5237T>G (p.Ile1746Arg)
c.5192T>G (p.Ile1731Arg)
c.1358T>G
n.593T>G
n.664T>G
c.5264T>G (p.Ile1755Arg)
c.4316T>G (p.Ile1439Arg)
c.5492T>G (p.Ile1831Arg)
c.5381T>G (p.Ile1794Arg)
c.5303T>G (p.Ile1768Arg)
c.4955T>G (p.Ile1652Arg)
c.4580T>G (p.Ile1527Arg)
c.5387T>G (p.Ile1796Arg)
c.5489T>G (p.Ile1830Arg)
c.5432T>G (p.Ile1811Arg)
c.5408T>G (p.Ile1803Arg)
c.5363T>G (p.Ile1788Arg)
3g.53801254T=CA1365484179CACNA1Dc.5297T= (p.Ile1766=)
n.2236T=
n.672T=
c.5237T= (p.Ile1746=)
c.5192T= (p.Ile1731=)
c.1358T=
n.593T=
n.664T=
c.5264T= (p.Ile1755=)
c.4316T= (p.Ile1439=)
c.5492T= (p.Ile1831=)
c.5381T= (p.Ile1794=)
c.5303T= (p.Ile1768=)
c.4955T= (p.Ile1652=)
c.4580T= (p.Ile1527=)
c.5387T= (p.Ile1796=)
c.5489T= (p.Ile1830=)
c.5432T= (p.Ile1811=)
c.5408T= (p.Ile1803=)
c.5363T= (p.Ile1788=)
3g.53801255A>CCA433896126CACNA1Dc.5298A>C (p.Ile1766=)
n.2237A>C
n.673A>C
c.5238A>C (p.Ile1746=)
c.5193A>C (p.Ile1731=)
c.1359A>C
n.594A>C
n.665A>C
c.5265A>C (p.Ile1755=)
c.4317A>C (p.Ile1439=)
c.5493A>C (p.Ile1831=)
c.5382A>C (p.Ile1794=)
c.5304A>C (p.Ile1768=)
c.4956A>C (p.Ile1652=)
c.4581A>C (p.Ile1527=)
c.5388A>C (p.Ile1796=)
c.5490A>C (p.Ile1830=)
c.5433A>C (p.Ile1811=)
c.5409A>C (p.Ile1803=)
c.5364A>C (p.Ile1788=)
3g.53801255A>GCA353250733CACNA1Dc.5298A>G (p.Ile1766Met)
n.2237A>G
n.673A>G
c.5238A>G (p.Ile1746Met)
c.5193A>G (p.Ile1731Met)
c.1359A>G
n.594A>G
n.665A>G
c.5265A>G (p.Ile1755Met)
c.4317A>G (p.Ile1439Met)
c.5493A>G (p.Ile1831Met)
c.5382A>G (p.Ile1794Met)
c.5304A>G (p.Ile1768Met)
c.4956A>G (p.Ile1652Met)
c.4581A>G (p.Ile1527Met)
c.5388A>G (p.Ile1796Met)
c.5490A>G (p.Ile1830Met)
c.5433A>G (p.Ile1811Met)
c.5409A>G (p.Ile1803Met)
c.5364A>G (p.Ile1788Met)
3g.53801255A>TCA433896129CACNA1Dc.5298A>T (p.Ile1766=)
n.2237A>T
n.673A>T
c.5238A>T (p.Ile1746=)
c.5193A>T (p.Ile1731=)
c.1359A>T
n.594A>T
n.665A>T
c.5265A>T (p.Ile1755=)
c.4317A>T (p.Ile1439=)
c.5493A>T (p.Ile1831=)
c.5382A>T (p.Ile1794=)
c.5304A>T (p.Ile1768=)
c.4956A>T (p.Ile1652=)
c.4581A>T (p.Ile1527=)
c.5388A>T (p.Ile1796=)
c.5490A>T (p.Ile1830=)
c.5433A>T (p.Ile1811=)
c.5409A>T (p.Ile1803=)
c.5364A>T (p.Ile1788=)
3g.53801256G>ACA353250739CACNA1Dc.5299G>A (p.Gly1767Arg)
n.2238G>A
n.674G>A
c.5239G>A (p.Gly1747Arg)
c.5194G>A (p.Gly1732Arg)
c.1360G>A
n.595G>A
n.666G>A
c.5266G>A (p.Gly1756Arg)
c.4318G>A (p.Gly1440Arg)
c.5494G>A (p.Gly1832Arg)
c.5383G>A (p.Gly1795Arg)
c.5305G>A (p.Gly1769Arg)
c.4957G>A (p.Gly1653Arg)
c.4582G>A (p.Gly1528Arg)
c.5389G>A (p.Gly1797Arg)
c.5491G>A (p.Gly1831Arg)
c.5434G>A (p.Gly1812Arg)
c.5410G>A (p.Gly1804Arg)
c.5365G>A (p.Gly1789Arg)
3g.53801256G>CCA353250736CACNA1Dc.5299G>C (p.Gly1767Arg)
n.2238G>C
n.674G>C
c.5239G>C (p.Gly1747Arg)
c.5194G>C (p.Gly1732Arg)
c.1360G>C
n.595G>C
n.666G>C
c.5266G>C (p.Gly1756Arg)
c.4318G>C (p.Gly1440Arg)
c.5494G>C (p.Gly1832Arg)
c.5383G>C (p.Gly1795Arg)
c.5305G>C (p.Gly1769Arg)
c.4957G>C (p.Gly1653Arg)
c.4582G>C (p.Gly1528Arg)
c.5389G>C (p.Gly1797Arg)
c.5491G>C (p.Gly1831Arg)
c.5434G>C (p.Gly1812Arg)
c.5410G>C (p.Gly1804Arg)
c.5365G>C (p.Gly1789Arg)
3g.53801256G>TCA353250734CACNA1Dc.5299G>T (p.Gly1767Ter)
n.2238G>T
n.674G>T
c.5239G>T (p.Gly1747Ter)
c.5194G>T (p.Gly1732Ter)
c.1360G>T
n.595G>T
n.666G>T
c.5266G>T (p.Gly1756Ter)
c.4318G>T (p.Gly1440Ter)
c.5494G>T (p.Gly1832Ter)
c.5383G>T (p.Gly1795Ter)
c.5305G>T (p.Gly1769Ter)
c.4957G>T (p.Gly1653Ter)
c.4582G>T (p.Gly1528Ter)
c.5389G>T (p.Gly1797Ter)
c.5491G>T (p.Gly1831Ter)
c.5434G>T (p.Gly1812Ter)
c.5410G>T (p.Gly1804Ter)
c.5365G>T (p.Gly1789Ter)
3g.53801257G>ACA353250741CACNA1Dc.5300G>A (p.Gly1767Glu)
n.2239G>A
n.675G>A
c.5240G>A (p.Gly1747Glu)
c.5195G>A (p.Gly1732Glu)
c.1361G>A
n.596G>A
n.667G>A
c.5267G>A (p.Gly1756Glu)
c.4319G>A (p.Gly1440Glu)
c.5495G>A (p.Gly1832Glu)
c.5384G>A (p.Gly1795Glu)
c.5306G>A (p.Gly1769Glu)
c.4958G>A (p.Gly1653Glu)
c.4583G>A (p.Gly1528Glu)
c.5390G>A (p.Gly1797Glu)
c.5492G>A (p.Gly1831Glu)
c.5435G>A (p.Gly1812Glu)
c.5411G>A (p.Gly1804Glu)
c.5366G>A (p.Gly1789Glu)
3g.53801257G>CCA353250743CACNA1Dc.5300G>C (p.Gly1767Ala)
n.2239G>C
n.675G>C
c.5240G>C (p.Gly1747Ala)
c.5195G>C (p.Gly1732Ala)
c.1361G>C
n.596G>C
n.667G>C
c.5267G>C (p.Gly1756Ala)
c.4319G>C (p.Gly1440Ala)
c.5495G>C (p.Gly1832Ala)
c.5384G>C (p.Gly1795Ala)
c.5306G>C (p.Gly1769Ala)
c.4958G>C (p.Gly1653Ala)
c.4583G>C (p.Gly1528Ala)
c.5390G>C (p.Gly1797Ala)
c.5492G>C (p.Gly1831Ala)
c.5435G>C (p.Gly1812Ala)
c.5411G>C (p.Gly1804Ala)
c.5366G>C (p.Gly1789Ala)
3g.53801257G>TCA353250745CACNA1Dc.5300G>T (p.Gly1767Val)
n.2239G>T
n.675G>T
c.5240G>T (p.Gly1747Val)
c.5195G>T (p.Gly1732Val)
c.1361G>T
n.596G>T
n.667G>T
c.5267G>T (p.Gly1756Val)
c.4319G>T (p.Gly1440Val)
c.5495G>T (p.Gly1832Val)
c.5384G>T (p.Gly1795Val)
c.5306G>T (p.Gly1769Val)
c.4958G>T (p.Gly1653Val)
c.4583G>T (p.Gly1528Val)
c.5390G>T (p.Gly1797Val)
c.5492G>T (p.Gly1831Val)
c.5435G>T (p.Gly1812Val)
c.5411G>T (p.Gly1804Val)
c.5366G>T (p.Gly1789Val)
3g.53801258A>CCA433896130CACNA1Dc.5301A>C (p.Gly1767=)
n.2240A>C
n.676A>C
c.5241A>C (p.Gly1747=)
c.5196A>C (p.Gly1732=)
c.1362A>C
n.597A>C
n.668A>C
c.5268A>C (p.Gly1756=)
c.4320A>C (p.Gly1440=)
c.5496A>C (p.Gly1832=)
c.5385A>C (p.Gly1795=)
c.5307A>C (p.Gly1769=)
c.4959A>C (p.Gly1653=)
c.4584A>C (p.Gly1528=)
c.5391A>C (p.Gly1797=)
c.5493A>C (p.Gly1831=)
c.5436A>C (p.Gly1812=)
c.5412A>C (p.Gly1804=)
c.5367A>C (p.Gly1789=)
3g.53801258A>GCA433896131CACNA1Dc.5301A>G (p.Gly1767=)
n.2240A>G
n.676A>G
c.5241A>G (p.Gly1747=)
c.5196A>G (p.Gly1732=)
c.1362A>G
n.597A>G
n.668A>G
c.5268A>G (p.Gly1756=)
c.4320A>G (p.Gly1440=)
c.5496A>G (p.Gly1832=)
c.5385A>G (p.Gly1795=)
c.5307A>G (p.Gly1769=)
c.4959A>G (p.Gly1653=)
c.4584A>G (p.Gly1528=)
c.5391A>G (p.Gly1797=)
c.5493A>G (p.Gly1831=)
c.5436A>G (p.Gly1812=)
c.5412A>G (p.Gly1804=)
c.5367A>G (p.Gly1789=)
 COSMIC COSMIC
3g.53801258A>TCA433896132CACNA1Dc.5301A>T (p.Gly1767=)
n.2240A>T
n.676A>T
c.5241A>T (p.Gly1747=)
c.5196A>T (p.Gly1732=)
c.1362A>T
n.597A>T
n.668A>T
c.5268A>T (p.Gly1756=)
c.4320A>T (p.Gly1440=)
c.5496A>T (p.Gly1832=)
c.5385A>T (p.Gly1795=)
c.5307A>T (p.Gly1769=)
c.4959A>T (p.Gly1653=)
c.4584A>T (p.Gly1528=)
c.5391A>T (p.Gly1797=)
c.5493A>T (p.Gly1831=)
c.5436A>T (p.Gly1812=)
c.5412A>T (p.Gly1804=)
c.5367A>T (p.Gly1789=)
3g.53801259A>CCA353250748CACNA1Dc.5302A>C (p.Lys1768Gln)
n.2241A>C
n.677A>C
c.5242A>C (p.Lys1748Gln)
c.5197A>C (p.Lys1733Gln)
c.1363A>C
n.598A>C
n.669A>C
c.5269A>C (p.Lys1757Gln)
c.4321A>C (p.Lys1441Gln)
c.5497A>C (p.Lys1833Gln)
c.5386A>C (p.Lys1796Gln)
c.5308A>C (p.Lys1770Gln)
c.4960A>C (p.Lys1654Gln)
c.4585A>C (p.Lys1529Gln)
c.5392A>C (p.Lys1798Gln)
c.5494A>C (p.Lys1832Gln)
c.5437A>C (p.Lys1813Gln)
c.5413A>C (p.Lys1805Gln)
c.5368A>C (p.Lys1790Gln)
3g.53801259A>GCA353250750CACNA1Dc.5302A>G (p.Lys1768Glu)
n.2241A>G
n.677A>G
c.5242A>G (p.Lys1748Glu)
c.5197A>G (p.Lys1733Glu)
c.1363A>G
n.598A>G
n.669A>G
c.5269A>G (p.Lys1757Glu)
c.4321A>G (p.Lys1441Glu)
c.5497A>G (p.Lys1833Glu)
c.5386A>G (p.Lys1796Glu)
c.5308A>G (p.Lys1770Glu)
c.4960A>G (p.Lys1654Glu)
c.4585A>G (p.Lys1529Glu)
c.5392A>G (p.Lys1798Glu)
c.5494A>G (p.Lys1832Glu)
c.5437A>G (p.Lys1813Glu)
c.5413A>G (p.Lys1805Glu)
c.5368A>G (p.Lys1790Glu)
3g.53801259A>TCA353250751CACNA1Dc.5302A>T (p.Lys1768Ter)
n.2241A>T
n.677A>T
c.5242A>T (p.Lys1748Ter)
c.5197A>T (p.Lys1733Ter)
c.1363A>T
n.598A>T
n.669A>T
c.5269A>T (p.Lys1757Ter)
c.4321A>T (p.Lys1441Ter)
c.5497A>T (p.Lys1833Ter)
c.5386A>T (p.Lys1796Ter)
c.5308A>T (p.Lys1770Ter)
c.4960A>T (p.Lys1654Ter)
c.4585A>T (p.Lys1529Ter)
c.5392A>T (p.Lys1798Ter)
c.5494A>T (p.Lys1832Ter)
c.5437A>T (p.Lys1813Ter)
c.5413A>T (p.Lys1805Ter)
c.5368A>T (p.Lys1790Ter)
3g.53801260A>CCA353250754CACNA1Dc.5303A>C (p.Lys1768Thr)
n.2242A>C
n.678A>C
c.5243A>C (p.Lys1748Thr)
c.5198A>C (p.Lys1733Thr)
c.1364A>C
n.599A>C
n.670A>C
c.5270A>C (p.Lys1757Thr)
c.4322A>C (p.Lys1441Thr)
c.5498A>C (p.Lys1833Thr)
c.5387A>C (p.Lys1796Thr)
c.5309A>C (p.Lys1770Thr)
c.4961A>C (p.Lys1654Thr)
c.4586A>C (p.Lys1529Thr)
c.5393A>C (p.Lys1798Thr)
c.5495A>C (p.Lys1832Thr)
c.5438A>C (p.Lys1813Thr)
c.5414A>C (p.Lys1805Thr)
c.5369A>C (p.Lys1790Thr)
3g.53801260A>GCA353250756CACNA1Dc.5303A>G (p.Lys1768Arg)
n.2242A>G
n.678A>G
c.5243A>G (p.Lys1748Arg)
c.5198A>G (p.Lys1733Arg)
c.1364A>G
n.599A>G
n.670A>G
c.5270A>G (p.Lys1757Arg)
c.4322A>G (p.Lys1441Arg)
c.5498A>G (p.Lys1833Arg)
c.5387A>G (p.Lys1796Arg)
c.5309A>G (p.Lys1770Arg)
c.4961A>G (p.Lys1654Arg)
c.4586A>G (p.Lys1529Arg)
c.5393A>G (p.Lys1798Arg)
c.5495A>G (p.Lys1832Arg)
c.5438A>G (p.Lys1813Arg)
c.5414A>G (p.Lys1805Arg)
c.5369A>G (p.Lys1790Arg)
3g.53801260A>TCA353250757CACNA1Dc.5303A>T (p.Lys1768Met)
n.2242A>T
n.678A>T
c.5243A>T (p.Lys1748Met)
c.5198A>T (p.Lys1733Met)
c.1364A>T
n.599A>T
n.670A>T
c.5270A>T (p.Lys1757Met)
c.4322A>T (p.Lys1441Met)
c.5498A>T (p.Lys1833Met)
c.5387A>T (p.Lys1796Met)
c.5309A>T (p.Lys1770Met)
c.4961A>T (p.Lys1654Met)
c.4586A>T (p.Lys1529Met)
c.5393A>T (p.Lys1798Met)
c.5495A>T (p.Lys1832Met)
c.5438A>T (p.Lys1813Met)
c.5414A>T (p.Lys1805Met)
c.5369A>T (p.Lys1790Met)
3g.53801261G>ACA433896136CACNA1Dc.5304G>A (p.Lys1768=)
n.2243G>A
n.679G>A
c.5244G>A (p.Lys1748=)
c.5199G>A (p.Lys1733=)
c.1365G>A
n.600G>A
n.671G>A
c.5271G>A (p.Lys1757=)
c.4323G>A (p.Lys1441=)
c.5499G>A (p.Lys1833=)
c.5388G>A (p.Lys1796=)
c.5310G>A (p.Lys1770=)
c.4962G>A (p.Lys1654=)
c.4587G>A (p.Lys1529=)
c.5394G>A (p.Lys1798=)
c.5496G>A (p.Lys1832=)
c.5439G>A (p.Lys1813=)
c.5415G>A (p.Lys1805=)
c.5370G>A (p.Lys1790=)
3g.53801261G>CCA353250760CACNA1Dc.5304G>C (p.Lys1768Asn)
n.2243G>C
n.679G>C
c.5244G>C (p.Lys1748Asn)
c.5199G>C (p.Lys1733Asn)
c.1365G>C
n.600G>C
n.671G>C
c.5271G>C (p.Lys1757Asn)
c.4323G>C (p.Lys1441Asn)
c.5499G>C (p.Lys1833Asn)
c.5388G>C (p.Lys1796Asn)
c.5310G>C (p.Lys1770Asn)
c.4962G>C (p.Lys1654Asn)
c.4587G>C (p.Lys1529Asn)
c.5394G>C (p.Lys1798Asn)
c.5496G>C (p.Lys1832Asn)
c.5439G>C (p.Lys1813Asn)
c.5415G>C (p.Lys1805Asn)
c.5370G>C (p.Lys1790Asn)
3g.53801261G>TCA353250762CACNA1Dc.5304G>T (p.Lys1768Asn)
n.2243G>T
n.679G>T
c.5244G>T (p.Lys1748Asn)
c.5199G>T (p.Lys1733Asn)
c.1365G>T
n.600G>T
n.671G>T
c.5271G>T (p.Lys1757Asn)
c.4323G>T (p.Lys1441Asn)
c.5499G>T (p.Lys1833Asn)
c.5388G>T (p.Lys1796Asn)
c.5310G>T (p.Lys1770Asn)
c.4962G>T (p.Lys1654Asn)
c.4587G>T (p.Lys1529Asn)
c.5394G>T (p.Lys1798Asn)
c.5496G>T (p.Lys1832Asn)
c.5439G>T (p.Lys1813Asn)
c.5415G>T (p.Lys1805Asn)
c.5370G>T (p.Lys1790Asn)
3g.53801262C>ACA353250764CACNA1Dc.5305C>A (p.Gln1769Lys)
n.2244C>A
n.680C>A
c.5245C>A (p.Gln1749Lys)
c.5200C>A (p.Gln1734Lys)
c.1366C>A
n.601C>A
n.672C>A
c.5272C>A (p.Gln1758Lys)
c.4324C>A (p.Gln1442Lys)
c.5500C>A (p.Gln1834Lys)
c.5389C>A (p.Gln1797Lys)
c.5311C>A (p.Gln1771Lys)
c.4963C>A (p.Gln1655Lys)
c.4588C>A (p.Gln1530Lys)
c.5395C>A (p.Gln1799Lys)
c.5497C>A (p.Gln1833Lys)
c.5440C>A (p.Gln1814Lys)
c.5416C>A (p.Gln1806Lys)
c.5371C>A (p.Gln1791Lys)
3g.53801262C>GCA353250766CACNA1Dc.5305C>G (p.Gln1769Glu)
n.2244C>G
n.680C>G
c.5245C>G (p.Gln1749Glu)
c.5200C>G (p.Gln1734Glu)
c.1366C>G
n.601C>G
n.672C>G
c.5272C>G (p.Gln1758Glu)
c.4324C>G (p.Gln1442Glu)
c.5500C>G (p.Gln1834Glu)
c.5389C>G (p.Gln1797Glu)
c.5311C>G (p.Gln1771Glu)
c.4963C>G (p.Gln1655Glu)
c.4588C>G (p.Gln1530Glu)
c.5395C>G (p.Gln1799Glu)
c.5497C>G (p.Gln1833Glu)
c.5440C>G (p.Gln1814Glu)
c.5416C>G (p.Gln1806Glu)
c.5371C>G (p.Gln1791Glu)
3g.53801262C>TCA353250767CACNA1Dc.5305C>T (p.Gln1769Ter)
n.2244C>T
n.680C>T
c.5245C>T (p.Gln1749Ter)
c.5200C>T (p.Gln1734Ter)
c.1366C>T
n.601C>T
n.672C>T
c.5272C>T (p.Gln1758Ter)
c.4324C>T (p.Gln1442Ter)
c.5500C>T (p.Gln1834Ter)
c.5389C>T (p.Gln1797Ter)
c.5311C>T (p.Gln1771Ter)
c.4963C>T (p.Gln1655Ter)
c.4588C>T (p.Gln1530Ter)
c.5395C>T (p.Gln1799Ter)
c.5497C>T (p.Gln1833Ter)
c.5440C>T (p.Gln1814Ter)
c.5416C>T (p.Gln1806Ter)
c.5371C>T (p.Gln1791Ter)
3g.53801263A>CCA353250773CACNA1Dc.5306A>C (p.Gln1769Pro)
n.2245A>C
n.681A>C
c.5246A>C (p.Gln1749Pro)
c.5201A>C (p.Gln1734Pro)
c.1367A>C
n.602A>C
n.673A>C
c.5273A>C (p.Gln1758Pro)
c.4325A>C (p.Gln1442Pro)
c.5501A>C (p.Gln1834Pro)
c.5390A>C (p.Gln1797Pro)
c.5312A>C (p.Gln1771Pro)
c.4964A>C (p.Gln1655Pro)
c.4589A>C (p.Gln1530Pro)
c.5396A>C (p.Gln1799Pro)
c.5498A>C (p.Gln1833Pro)
c.5441A>C (p.Gln1814Pro)
c.5417A>C (p.Gln1806Pro)
c.5372A>C (p.Gln1791Pro)
3g.53801263A>GCA353250771CACNA1Dc.5306A>G (p.Gln1769Arg)
n.2245A>G
n.681A>G
c.5246A>G (p.Gln1749Arg)
c.5201A>G (p.Gln1734Arg)
c.1367A>G
n.602A>G
n.673A>G
c.5273A>G (p.Gln1758Arg)
c.4325A>G (p.Gln1442Arg)
c.5501A>G (p.Gln1834Arg)
c.5390A>G (p.Gln1797Arg)
c.5312A>G (p.Gln1771Arg)
c.4964A>G (p.Gln1655Arg)
c.4589A>G (p.Gln1530Arg)
c.5396A>G (p.Gln1799Arg)
c.5498A>G (p.Gln1833Arg)
c.5441A>G (p.Gln1814Arg)
c.5417A>G (p.Gln1806Arg)
c.5372A>G (p.Gln1791Arg)
3g.53801263A>TCA353250769CACNA1Dc.5306A>T (p.Gln1769Leu)
n.2245A>T
n.681A>T
c.5246A>T (p.Gln1749Leu)
c.5201A>T (p.Gln1734Leu)
c.1367A>T
n.602A>T
n.673A>T
c.5273A>T (p.Gln1758Leu)
c.4325A>T (p.Gln1442Leu)
c.5501A>T (p.Gln1834Leu)
c.5390A>T (p.Gln1797Leu)
c.5312A>T (p.Gln1771Leu)
c.4964A>T (p.Gln1655Leu)
c.4589A>T (p.Gln1530Leu)
c.5396A>T (p.Gln1799Leu)
c.5498A>T (p.Gln1833Leu)
c.5441A>T (p.Gln1814Leu)
c.5417A>T (p.Gln1806Leu)
c.5372A>T (p.Gln1791Leu)
3g.53801264A=CA1365484180CACNA1Dc.5307A= (p.Gln1769=)
n.2246A=
n.682A=
c.5247A= (p.Gln1749=)
c.5202A= (p.Gln1734=)
c.1368A=
n.603A=
n.674A=
c.5274A= (p.Gln1758=)
n.1A=
c.4326A= (p.Gln1442=)
c.5502A= (p.Gln1834=)
c.5391A= (p.Gln1797=)
c.5313A= (p.Gln1771=)
c.4965A= (p.Gln1655=)
c.4590A= (p.Gln1530=)
c.5397A= (p.Gln1799=)
c.5499A= (p.Gln1833=)
c.5442A= (p.Gln1814=)
c.5418A= (p.Gln1806=)
c.5373A= (p.Gln1791=)
3g.53801264A>CCA353250775CACNA1Dc.5307A>C (p.Gln1769His)
n.2246A>C
n.682A>C
c.5247A>C (p.Gln1749His)
c.5202A>C (p.Gln1734His)
c.1368A>C
n.603A>C
n.674A>C
c.5274A>C (p.Gln1758His)
n.1A>C
c.4326A>C (p.Gln1442His)
c.5502A>C (p.Gln1834His)
c.5391A>C (p.Gln1797His)
c.5313A>C (p.Gln1771His)
c.4965A>C (p.Gln1655His)
c.4590A>C (p.Gln1530His)
c.5397A>C (p.Gln1799His)
c.5499A>C (p.Gln1833His)
c.5442A>C (p.Gln1814His)
c.5418A>C (p.Gln1806His)
c.5373A>C (p.Gln1791His)
3g.53801264A>GCA433896137CACNA1Dc.5307A>G (p.Gln1769=)
n.2246A>G
n.682A>G
c.5247A>G (p.Gln1749=)
c.5202A>G (p.Gln1734=)
c.1368A>G
n.603A>G
n.674A>G
c.5274A>G (p.Gln1758=)
n.1A>G
c.4326A>G (p.Gln1442=)
c.5502A>G (p.Gln1834=)
c.5391A>G (p.Gln1797=)
c.5313A>G (p.Gln1771=)
c.4965A>G (p.Gln1655=)
c.4590A>G (p.Gln1530=)
c.5397A>G (p.Gln1799=)
c.5499A>G (p.Gln1833=)
c.5442A>G (p.Gln1814=)
c.5418A>G (p.Gln1806=)
c.5373A>G (p.Gln1791=)
3g.53801264A>TCA353250777CACNA1Dc.5307A>T (p.Gln1769His)
n.2246A>T
n.682A>T
c.5247A>T (p.Gln1749His)
c.5202A>T (p.Gln1734His)
c.1368A>T
n.603A>T
n.674A>T
c.5274A>T (p.Gln1758His)
n.1A>T
c.4326A>T (p.Gln1442His)
c.5502A>T (p.Gln1834His)
c.5391A>T (p.Gln1797His)
c.5313A>T (p.Gln1771His)
c.4965A>T (p.Gln1655His)
c.4590A>T (p.Gln1530His)
c.5397A>T (p.Gln1799His)
c.5499A>T (p.Gln1833His)
c.5442A>T (p.Gln1814His)
c.5418A>T (p.Gln1806His)
c.5373A>T (p.Gln1791His)
 dbSNP gnomAD v3 gnomAD v4
3g.53801265G>ACA353250779CACNA1Dc.5308G>A (p.Val1770Ile)
n.2247G>A
n.683G>A
c.5248G>A (p.Val1750Ile)
c.5203G>A (p.Val1735Ile)
c.1369G>A
n.604G>A
n.675G>A
c.5275G>A (p.Val1759Ile)
n.2G>A
c.4327G>A (p.Val1443Ile)
c.5503G>A (p.Val1835Ile)
c.5392G>A (p.Val1798Ile)
c.5314G>A (p.Val1772Ile)
c.4966G>A (p.Val1656Ile)
c.4591G>A (p.Val1531Ile)
c.5398G>A (p.Val1800Ile)
c.5500G>A (p.Val1834Ile)
c.5443G>A (p.Val1815Ile)
c.5419G>A (p.Val1807Ile)
c.5374G>A (p.Val1792Ile)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.53801265G>CCA353250781CACNA1Dc.5308G>C (p.Val1770Leu)
n.2247G>C
n.683G>C
c.5248G>C (p.Val1750Leu)
c.5203G>C (p.Val1735Leu)
c.1369G>C
n.604G>C
n.675G>C
c.5275G>C (p.Val1759Leu)
n.2G>C
c.4327G>C (p.Val1443Leu)
c.5503G>C (p.Val1835Leu)
c.5392G>C (p.Val1798Leu)
c.5314G>C (p.Val1772Leu)
c.4966G>C (p.Val1656Leu)
c.4591G>C (p.Val1531Leu)
c.5398G>C (p.Val1800Leu)
c.5500G>C (p.Val1834Leu)
c.5443G>C (p.Val1815Leu)
c.5419G>C (p.Val1807Leu)
c.5374G>C (p.Val1792Leu)
3g.53801265G=CA1365484181CACNA1Dc.5308G= (p.Val1770=)
n.2247G=
n.683G=
c.5248G= (p.Val1750=)
c.5203G= (p.Val1735=)
c.1369G=
n.604G=
n.675G=
c.5275G= (p.Val1759=)
n.2G=
c.4327G= (p.Val1443=)
c.5503G= (p.Val1835=)
c.5392G= (p.Val1798=)
c.5314G= (p.Val1772=)
c.4966G= (p.Val1656=)
c.4591G= (p.Val1531=)
c.5398G= (p.Val1800=)
c.5500G= (p.Val1834=)
c.5443G= (p.Val1815=)
c.5419G= (p.Val1807=)
c.5374G= (p.Val1792=)
3g.53801265G>TCA74859874CACNA1Dc.5308G>T (p.Val1770Phe)
n.2247G>T
n.683G>T
c.5248G>T (p.Val1750Phe)
c.5203G>T (p.Val1735Phe)
c.1369G>T
n.604G>T
n.675G>T
c.5275G>T (p.Val1759Phe)
n.2G>T
c.4327G>T (p.Val1443Phe)
c.5503G>T (p.Val1835Phe)
c.5392G>T (p.Val1798Phe)
c.5314G>T (p.Val1772Phe)
c.4966G>T (p.Val1656Phe)
c.4591G>T (p.Val1531Phe)
c.5398G>T (p.Val1800Phe)
c.5500G>T (p.Val1834Phe)
c.5443G>T (p.Val1815Phe)
c.5419G>T (p.Val1807Phe)
c.5374G>T (p.Val1792Phe)
 dbSNP gnomAD v3 gnomAD v4
3g.53801266T>ACA353250789CACNA1Dc.5309T>A (p.Val1770Asp)
n.2248T>A
n.684T>A
c.5249T>A (p.Val1750Asp)
c.5204T>A (p.Val1735Asp)
c.1370T>A
n.605T>A
n.676T>A
c.5276T>A (p.Val1759Asp)
n.3T>A
c.4328T>A (p.Val1443Asp)
c.5504T>A (p.Val1835Asp)
c.5393T>A (p.Val1798Asp)
c.5315T>A (p.Val1772Asp)
c.4967T>A (p.Val1656Asp)
c.4592T>A (p.Val1531Asp)
c.5399T>A (p.Val1800Asp)
c.5501T>A (p.Val1834Asp)
c.5444T>A (p.Val1815Asp)
c.5420T>A (p.Val1807Asp)
c.5375T>A (p.Val1792Asp)
3g.53801266T>CCA353250787CACNA1Dc.5309T>C (p.Val1770Ala)
n.2248T>C
n.684T>C
c.5249T>C (p.Val1750Ala)
c.5204T>C (p.Val1735Ala)
c.1370T>C
n.605T>C
n.676T>C
c.5276T>C (p.Val1759Ala)
n.3T>C
c.4328T>C (p.Val1443Ala)
c.5504T>C (p.Val1835Ala)
c.5393T>C (p.Val1798Ala)
c.5315T>C (p.Val1772Ala)
c.4967T>C (p.Val1656Ala)
c.4592T>C (p.Val1531Ala)
c.5399T>C (p.Val1800Ala)
c.5501T>C (p.Val1834Ala)
c.5444T>C (p.Val1815Ala)
c.5420T>C (p.Val1807Ala)
c.5375T>C (p.Val1792Ala)
3g.53801266T>GCA353250785CACNA1Dc.5309T>G (p.Val1770Gly)
n.2248T>G
n.684T>G
c.5249T>G (p.Val1750Gly)
c.5204T>G (p.Val1735Gly)
c.1370T>G
n.605T>G
n.676T>G
c.5276T>G (p.Val1759Gly)
n.3T>G
c.4328T>G (p.Val1443Gly)
c.5504T>G (p.Val1835Gly)
c.5393T>G (p.Val1798Gly)
c.5315T>G (p.Val1772Gly)
c.4967T>G (p.Val1656Gly)
c.4592T>G (p.Val1531Gly)
c.5399T>G (p.Val1800Gly)
c.5501T>G (p.Val1834Gly)
c.5444T>G (p.Val1815Gly)
c.5420T>G (p.Val1807Gly)
c.5375T>G (p.Val1792Gly)
3g.53801267T>ACA433896139CACNA1Dc.5310T>A (p.Val1770=)
n.2249T>A
n.685T>A
c.5250T>A (p.Val1750=)
c.5205T>A (p.Val1735=)
c.1371T>A
n.606T>A
n.677T>A
c.5277T>A (p.Val1759=)
n.4T>A
c.4329T>A (p.Val1443=)
c.5505T>A (p.Val1835=)
c.5394T>A (p.Val1798=)
c.5316T>A (p.Val1772=)
c.4968T>A (p.Val1656=)
c.4593T>A (p.Val1531=)
c.5400T>A (p.Val1800=)
c.5502T>A (p.Val1834=)
c.5445T>A (p.Val1815=)
c.5421T>A (p.Val1807=)
c.5376T>A (p.Val1792=)
3g.53801267T>CCA433896140CACNA1Dc.5310T>C (p.Val1770=)
n.2249T>C
n.685T>C
c.5250T>C (p.Val1750=)
c.5205T>C (p.Val1735=)
c.1371T>C
n.606T>C
n.677T>C
c.5277T>C (p.Val1759=)
n.4T>C
c.4329T>C (p.Val1443=)
c.5505T>C (p.Val1835=)
c.5394T>C (p.Val1798=)
c.5316T>C (p.Val1772=)
c.4968T>C (p.Val1656=)
c.4593T>C (p.Val1531=)
c.5400T>C (p.Val1800=)
c.5502T>C (p.Val1834=)
c.5445T>C (p.Val1815=)
c.5421T>C (p.Val1807=)
c.5376T>C (p.Val1792=)
3g.53801267T>GCA433896141CACNA1Dc.5310T>G (p.Val1770=)
n.2249T>G
n.685T>G
c.5250T>G (p.Val1750=)
c.5205T>G (p.Val1735=)
c.1371T>G
n.606T>G
n.677T>G
c.5277T>G (p.Val1759=)
n.4T>G
c.4329T>G (p.Val1443=)
c.5505T>G (p.Val1835=)
c.5394T>G (p.Val1798=)
c.5316T>G (p.Val1772=)
c.4968T>G (p.Val1656=)
c.4593T>G (p.Val1531=)
c.5400T>G (p.Val1800=)
c.5502T>G (p.Val1834=)
c.5445T>G (p.Val1815=)
c.5421T>G (p.Val1807=)
c.5376T>G (p.Val1792=)
3g.53801268C>ACA353250792CACNA1Dc.5311C>A (p.Pro1771Thr)
n.2250C>A
n.686C>A
c.5251C>A (p.Pro1751Thr)
c.5206C>A (p.Pro1736Thr)
c.1372C>A
n.607C>A
n.678C>A
c.5278C>A (p.Pro1760Thr)
n.5C>A
c.4330C>A (p.Pro1444Thr)
c.5506C>A (p.Pro1836Thr)
c.5395C>A (p.Pro1799Thr)
c.5317C>A (p.Pro1773Thr)
c.4969C>A (p.Pro1657Thr)
c.4594C>A (p.Pro1532Thr)
c.5401C>A (p.Pro1801Thr)
c.5503C>A (p.Pro1835Thr)
c.5446C>A (p.Pro1816Thr)
c.5422C>A (p.Pro1808Thr)
c.5377C>A (p.Pro1793Thr)
 gnomAD v4
3g.53801268C>GCA353250793CACNA1Dc.5311C>G (p.Pro1771Ala)
n.2250C>G
n.686C>G
c.5251C>G (p.Pro1751Ala)
c.5206C>G (p.Pro1736Ala)
c.1372C>G
n.607C>G
n.678C>G
c.5278C>G (p.Pro1760Ala)
n.5C>G
c.4330C>G (p.Pro1444Ala)
c.5506C>G (p.Pro1836Ala)
c.5395C>G (p.Pro1799Ala)
c.5317C>G (p.Pro1773Ala)
c.4969C>G (p.Pro1657Ala)
c.4594C>G (p.Pro1532Ala)
c.5401C>G (p.Pro1801Ala)
c.5503C>G (p.Pro1835Ala)
c.5446C>G (p.Pro1816Ala)
c.5422C>G (p.Pro1808Ala)
c.5377C>G (p.Pro1793Ala)
3g.53801268C>TCA353250796CACNA1Dc.5311C>T (p.Pro1771Ser)
n.2250C>T
n.686C>T
c.5251C>T (p.Pro1751Ser)
c.5206C>T (p.Pro1736Ser)
c.1372C>T
n.607C>T
n.678C>T
c.5278C>T (p.Pro1760Ser)
n.5C>T
c.4330C>T (p.Pro1444Ser)
c.5506C>T (p.Pro1836Ser)
c.5395C>T (p.Pro1799Ser)
c.5317C>T (p.Pro1773Ser)
c.4969C>T (p.Pro1657Ser)
c.4594C>T (p.Pro1532Ser)
c.5401C>T (p.Pro1801Ser)
c.5503C>T (p.Pro1835Ser)
c.5446C>T (p.Pro1816Ser)
c.5422C>T (p.Pro1808Ser)
c.5377C>T (p.Pro1793Ser)
 COSMIC COSMIC
3g.53801269C>ACA353250798CACNA1Dc.5312C>A (p.Pro1771His)
n.2251C>A
n.687C>A
c.5252C>A (p.Pro1751His)
c.5207C>A (p.Pro1736His)
c.1373C>A
n.608C>A
n.679C>A
c.5279C>A (p.Pro1760His)
n.6C>A
c.4331C>A (p.Pro1444His)
c.5507C>A (p.Pro1836His)
c.5396C>A (p.Pro1799His)
c.5318C>A (p.Pro1773His)
c.4970C>A (p.Pro1657His)
c.4595C>A (p.Pro1532His)
c.5402C>A (p.Pro1801His)
c.5504C>A (p.Pro1835His)
c.5447C>A (p.Pro1816His)
c.5423C>A (p.Pro1808His)
c.5378C>A (p.Pro1793His)
3g.53801269C>GCA353250800CACNA1Dc.5312C>G (p.Pro1771Arg)
n.2251C>G
n.687C>G
c.5252C>G (p.Pro1751Arg)
c.5207C>G (p.Pro1736Arg)
c.1373C>G
n.608C>G
n.679C>G
c.5279C>G (p.Pro1760Arg)
n.6C>G
c.4331C>G (p.Pro1444Arg)
c.5507C>G (p.Pro1836Arg)
c.5396C>G (p.Pro1799Arg)
c.5318C>G (p.Pro1773Arg)
c.4970C>G (p.Pro1657Arg)
c.4595C>G (p.Pro1532Arg)
c.5402C>G (p.Pro1801Arg)
c.5504C>G (p.Pro1835Arg)
c.5447C>G (p.Pro1816Arg)
c.5423C>G (p.Pro1808Arg)
c.5378C>G (p.Pro1793Arg)
3g.53801269C>TCA353250802CACNA1Dc.5312C>T (p.Pro1771Leu)
n.2251C>T
n.687C>T
c.5252C>T (p.Pro1751Leu)
c.5207C>T (p.Pro1736Leu)
c.1373C>T
n.608C>T
n.679C>T
c.5279C>T (p.Pro1760Leu)
n.6C>T
c.4331C>T (p.Pro1444Leu)
c.5507C>T (p.Pro1836Leu)
c.5396C>T (p.Pro1799Leu)
c.5318C>T (p.Pro1773Leu)
c.4970C>T (p.Pro1657Leu)
c.4595C>T (p.Pro1532Leu)
c.5402C>T (p.Pro1801Leu)
c.5504C>T (p.Pro1835Leu)
c.5447C>T (p.Pro1816Leu)
c.5423C>T (p.Pro1808Leu)
c.5378C>T (p.Pro1793Leu)
3g.53801270C>ACA433896144CACNA1Dc.5313C>A (p.Pro1771=)
n.2252C>A
n.688C>A
c.5253C>A (p.Pro1751=)
c.5208C>A (p.Pro1736=)
c.1374C>A
n.609C>A
n.680C>A
c.5280C>A (p.Pro1760=)
n.7C>A
c.4332C>A (p.Pro1444=)
c.5508C>A (p.Pro1836=)
c.5397C>A (p.Pro1799=)
c.5319C>A (p.Pro1773=)
c.4971C>A (p.Pro1657=)
c.4596C>A (p.Pro1532=)
c.5403C>A (p.Pro1801=)
c.5505C>A (p.Pro1835=)
c.5448C>A (p.Pro1816=)
c.5424C>A (p.Pro1808=)
c.5379C>A (p.Pro1793=)
3g.53801270C>GCA433896145CACNA1Dc.5313C>G (p.Pro1771=)
n.2252C>G
n.688C>G
c.5253C>G (p.Pro1751=)
c.5208C>G (p.Pro1736=)
c.1374C>G
n.609C>G
n.680C>G
c.5280C>G (p.Pro1760=)
n.7C>G
c.4332C>G (p.Pro1444=)
c.5508C>G (p.Pro1836=)
c.5397C>G (p.Pro1799=)
c.5319C>G (p.Pro1773=)
c.4971C>G (p.Pro1657=)
c.4596C>G (p.Pro1532=)
c.5403C>G (p.Pro1801=)
c.5505C>G (p.Pro1835=)
c.5448C>G (p.Pro1816=)
c.5424C>G (p.Pro1808=)
c.5379C>G (p.Pro1793=)
3g.53801270C>TCA433896146CACNA1Dc.5313C>T (p.Pro1771=)
n.2252C>T
n.688C>T
c.5253C>T (p.Pro1751=)
c.5208C>T (p.Pro1736=)
c.1374C>T
n.609C>T
n.680C>T
c.5280C>T (p.Pro1760=)
n.7C>T
c.4332C>T (p.Pro1444=)
c.5508C>T (p.Pro1836=)
c.5397C>T (p.Pro1799=)
c.5319C>T (p.Pro1773=)
c.4971C>T (p.Pro1657=)
c.4596C>T (p.Pro1532=)
c.5403C>T (p.Pro1801=)
c.5505C>T (p.Pro1835=)
c.5448C>T (p.Pro1816=)
c.5424C>T (p.Pro1808=)
c.5379C>T (p.Pro1793=)
3g.53801271A>CCA353250809CACNA1Dc.5314A>C (p.Thr1772Pro)
n.2253A>C
n.689A>C
c.5254A>C (p.Thr1752Pro)
c.5209A>C (p.Thr1737Pro)
c.1375A>C
n.610A>C
n.681A>C
c.5281A>C (p.Thr1761Pro)
n.8A>C
c.4333A>C (p.Thr1445Pro)
c.5509A>C (p.Thr1837Pro)
c.5398A>C (p.Thr1800Pro)
c.5320A>C (p.Thr1774Pro)
c.4972A>C (p.Thr1658Pro)
c.4597A>C (p.Thr1533Pro)
c.5404A>C (p.Thr1802Pro)
c.5506A>C (p.Thr1836Pro)
c.5449A>C (p.Thr1817Pro)
c.5425A>C (p.Thr1809Pro)
c.5380A>C (p.Thr1794Pro)
3g.53801271A>GCA353250805CACNA1Dc.5314A>G (p.Thr1772Ala)
n.2253A>G
n.689A>G
c.5254A>G (p.Thr1752Ala)
c.5209A>G (p.Thr1737Ala)
c.1375A>G
n.610A>G
n.681A>G
c.5281A>G (p.Thr1761Ala)
n.8A>G
c.4333A>G (p.Thr1445Ala)
c.5509A>G (p.Thr1837Ala)
c.5398A>G (p.Thr1800Ala)
c.5320A>G (p.Thr1774Ala)
c.4972A>G (p.Thr1658Ala)
c.4597A>G (p.Thr1533Ala)
c.5404A>G (p.Thr1802Ala)
c.5506A>G (p.Thr1836Ala)
c.5449A>G (p.Thr1817Ala)
c.5425A>G (p.Thr1809Ala)
c.5380A>G (p.Thr1794Ala)
 ClinVar gnomAD v4
3g.53801271A>TCA353250807CACNA1Dc.5314A>T (p.Thr1772Ser)
n.2253A>T
n.689A>T
c.5254A>T (p.Thr1752Ser)
c.5209A>T (p.Thr1737Ser)
c.1375A>T
n.610A>T
n.681A>T
c.5281A>T (p.Thr1761Ser)
n.8A>T
c.4333A>T (p.Thr1445Ser)
c.5509A>T (p.Thr1837Ser)
c.5398A>T (p.Thr1800Ser)
c.5320A>T (p.Thr1774Ser)
c.4972A>T (p.Thr1658Ser)
c.4597A>T (p.Thr1533Ser)
c.5404A>T (p.Thr1802Ser)
c.5506A>T (p.Thr1836Ser)
c.5449A>T (p.Thr1817Ser)
c.5425A>T (p.Thr1809Ser)
c.5380A>T (p.Thr1794Ser)
3g.53801272C>ACA2455091CACNA1Dc.5315C>A (p.Thr1772Asn)
n.2254C>A
n.690C>A
c.5255C>A (p.Thr1752Asn)
c.5210C>A (p.Thr1737Asn)
c.1376C>A
n.611C>A
n.682C>A
c.5282C>A (p.Thr1761Asn)
n.9C>A
c.4334C>A (p.Thr1445Asn)
c.5510C>A (p.Thr1837Asn)
c.5399C>A (p.Thr1800Asn)
c.5321C>A (p.Thr1774Asn)
c.4973C>A (p.Thr1658Asn)
c.4598C>A (p.Thr1533Asn)
c.5405C>A (p.Thr1802Asn)
c.5507C>A (p.Thr1836Asn)
c.5450C>A (p.Thr1817Asn)
c.5426C>A (p.Thr1809Asn)
c.5381C>A (p.Thr1794Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.53801272C=CA1365484182CACNA1Dc.5315C= (p.Thr1772=)
n.2254C=
n.690C=
c.5255C= (p.Thr1752=)
c.5210C= (p.Thr1737=)
c.1376C=
n.611C=
n.682C=
c.5282C= (p.Thr1761=)
n.9C=
c.4334C= (p.Thr1445=)
c.5510C= (p.Thr1837=)
c.5399C= (p.Thr1800=)
c.5321C= (p.Thr1774=)
c.4973C= (p.Thr1658=)
c.4598C= (p.Thr1533=)
c.5405C= (p.Thr1802=)
c.5507C= (p.Thr1836=)
c.5450C= (p.Thr1817=)
c.5426C= (p.Thr1809=)
c.5381C= (p.Thr1794=)
3g.53801272C>GCA353250812CACNA1Dc.5315C>G (p.Thr1772Ser)
n.2254C>G
n.690C>G
c.5255C>G (p.Thr1752Ser)
c.5210C>G (p.Thr1737Ser)
c.1376C>G
n.611C>G
n.682C>G
c.5282C>G (p.Thr1761Ser)
n.9C>G
c.4334C>G (p.Thr1445Ser)
c.5510C>G (p.Thr1837Ser)
c.5399C>G (p.Thr1800Ser)
c.5321C>G (p.Thr1774Ser)
c.4973C>G (p.Thr1658Ser)
c.4598C>G (p.Thr1533Ser)
c.5405C>G (p.Thr1802Ser)
c.5507C>G (p.Thr1836Ser)
c.5450C>G (p.Thr1817Ser)
c.5426C>G (p.Thr1809Ser)
c.5381C>G (p.Thr1794Ser)
3g.53801272C>TCA2455090CACNA1Dc.5315C>T (p.Thr1772Ile)
n.2254C>T
n.690C>T
c.5255C>T (p.Thr1752Ile)
c.5210C>T (p.Thr1737Ile)
c.1376C>T
n.611C>T
n.682C>T
c.5282C>T (p.Thr1761Ile)
n.9C>T
c.4334C>T (p.Thr1445Ile)
c.5510C>T (p.Thr1837Ile)
c.5399C>T (p.Thr1800Ile)
c.5321C>T (p.Thr1774Ile)
c.4973C>T (p.Thr1658Ile)
c.4598C>T (p.Thr1533Ile)
c.5405C>T (p.Thr1802Ile)
c.5507C>T (p.Thr1836Ile)
c.5450C>T (p.Thr1817Ile)
c.5426C>T (p.Thr1809Ile)
c.5381C>T (p.Thr1794Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.53801273C>ACA433896148CACNA1Dc.5316C>A (p.Thr1772=)
n.2255C>A
n.691C>A
c.5256C>A (p.Thr1752=)
c.5211C>A (p.Thr1737=)
c.1377C>A
n.612C>A
n.683C>A
c.5283C>A (p.Thr1761=)
n.10C>A
c.4335C>A (p.Thr1445=)
c.5511C>A (p.Thr1837=)
c.5400C>A (p.Thr1800=)
c.5322C>A (p.Thr1774=)
c.4974C>A (p.Thr1658=)
c.4599C>A (p.Thr1533=)
c.5406C>A (p.Thr1802=)
c.5508C>A (p.Thr1836=)
c.5451C>A (p.Thr1817=)
c.5427C>A (p.Thr1809=)
c.5382C>A (p.Thr1794=)
3g.53801273C>GCA433896149CACNA1Dc.5316C>G (p.Thr1772=)
n.2255C>G
n.691C>G
c.5256C>G (p.Thr1752=)
c.5211C>G (p.Thr1737=)
c.1377C>G
n.612C>G
n.683C>G
c.5283C>G (p.Thr1761=)
n.10C>G
c.4335C>G (p.Thr1445=)
c.5511C>G (p.Thr1837=)
c.5400C>G (p.Thr1800=)
c.5322C>G (p.Thr1774=)
c.4974C>G (p.Thr1658=)
c.4599C>G (p.Thr1533=)
c.5406C>G (p.Thr1802=)
c.5508C>G (p.Thr1836=)
c.5451C>G (p.Thr1817=)
c.5427C>G (p.Thr1809=)
c.5382C>G (p.Thr1794=)
3g.53801273C>TCA433896150CACNA1Dc.5316C>T (p.Thr1772=)
n.2255C>T
n.691C>T
c.5256C>T (p.Thr1752=)
c.5211C>T (p.Thr1737=)
c.1377C>T
n.612C>T
n.683C>T
c.5283C>T (p.Thr1761=)
n.10C>T
c.4335C>T (p.Thr1445=)
c.5511C>T (p.Thr1837=)
c.5400C>T (p.Thr1800=)
c.5322C>T (p.Thr1774=)
c.4974C>T (p.Thr1658=)
c.4599C>T (p.Thr1533=)
c.5406C>T (p.Thr1802=)
c.5508C>T (p.Thr1836=)
c.5451C>T (p.Thr1817=)
c.5427C>T (p.Thr1809=)
c.5382C>T (p.Thr1794=)
 COSMIC COSMIC
3g.53801274T>ACA353250814CACNA1Dc.5317T>A (p.Ser1773Thr)
n.2256T>A
n.692T>A
c.5257T>A (p.Ser1753Thr)
c.5212T>A (p.Ser1738Thr)
c.1378T>A
n.613T>A
n.684T>A
c.5284T>A (p.Ser1762Thr)
n.11T>A
c.4336T>A (p.Ser1446Thr)
c.5512T>A (p.Ser1838Thr)
c.5401T>A (p.Ser1801Thr)
c.5323T>A (p.Ser1775Thr)
c.4975T>A (p.Ser1659Thr)
c.4600T>A (p.Ser1534Thr)
c.5407T>A (p.Ser1803Thr)
c.5509T>A (p.Ser1837Thr)
c.5452T>A (p.Ser1818Thr)
c.5428T>A (p.Ser1810Thr)
c.5383T>A (p.Ser1795Thr)
3g.53801274T>CCA353250817CACNA1Dc.5317T>C (p.Ser1773Pro)
n.2256T>C
n.692T>C
c.5257T>C (p.Ser1753Pro)
c.5212T>C (p.Ser1738Pro)
c.1378T>C
n.613T>C
n.684T>C
c.5284T>C (p.Ser1762Pro)
n.11T>C
c.4336T>C (p.Ser1446Pro)
c.5512T>C (p.Ser1838Pro)
c.5401T>C (p.Ser1801Pro)
c.5323T>C (p.Ser1775Pro)
c.4975T>C (p.Ser1659Pro)
c.4600T>C (p.Ser1534Pro)
c.5407T>C (p.Ser1803Pro)
c.5509T>C (p.Ser1837Pro)
c.5452T>C (p.Ser1818Pro)
c.5428T>C (p.Ser1810Pro)
c.5383T>C (p.Ser1795Pro)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.53801274T>GCA353250819CACNA1Dc.5317T>G (p.Ser1773Ala)
n.2256T>G
n.692T>G
c.5257T>G (p.Ser1753Ala)
c.5212T>G (p.Ser1738Ala)
c.1378T>G
n.613T>G
n.684T>G
c.5284T>G (p.Ser1762Ala)
n.11T>G
c.4336T>G (p.Ser1446Ala)
c.5512T>G (p.Ser1838Ala)
c.5401T>G (p.Ser1801Ala)
c.5323T>G (p.Ser1775Ala)
c.4975T>G (p.Ser1659Ala)
c.4600T>G (p.Ser1534Ala)
c.5407T>G (p.Ser1803Ala)
c.5509T>G (p.Ser1837Ala)
c.5452T>G (p.Ser1818Ala)
c.5428T>G (p.Ser1810Ala)
c.5383T>G (p.Ser1795Ala)
3g.53801274T=CA1365484183CACNA1Dc.5317T= (p.Ser1773=)
n.2256T=
n.692T=
c.5257T= (p.Ser1753=)
c.5212T= (p.Ser1738=)
c.1378T=
n.613T=
n.684T=
c.5284T= (p.Ser1762=)
n.11T=
c.4336T= (p.Ser1446=)
c.5512T= (p.Ser1838=)
c.5401T= (p.Ser1801=)
c.5323T= (p.Ser1775=)
c.4975T= (p.Ser1659=)
c.4600T= (p.Ser1534=)
c.5407T= (p.Ser1803=)
c.5509T= (p.Ser1837=)
c.5452T= (p.Ser1818=)
c.5428T= (p.Ser1810=)
c.5383T= (p.Ser1795=)
3g.53801275C>ACA353250821CACNA1Dc.5318C>A (p.Ser1773Ter)
n.2257C>A
n.693C>A
c.5258C>A (p.Ser1753Ter)
c.5213C>A (p.Ser1738Ter)
c.1379C>A
n.614C>A
n.685C>A
c.5285C>A (p.Ser1762Ter)
n.12C>A
c.4337C>A (p.Ser1446Ter)
c.5513C>A (p.Ser1838Ter)
c.5402C>A (p.Ser1801Ter)
c.5324C>A (p.Ser1775Ter)
c.4976C>A (p.Ser1659Ter)
c.4601C>A (p.Ser1534Ter)
c.5408C>A (p.Ser1803Ter)
c.5510C>A (p.Ser1837Ter)
c.5453C>A (p.Ser1818Ter)
c.5429C>A (p.Ser1810Ter)
c.5384C>A (p.Ser1795Ter)
3g.53801275C>GCA353250826CACNA1Dc.5318C>G (p.Ser1773Ter)
n.2257C>G
n.693C>G
c.5258C>G (p.Ser1753Ter)
c.5213C>G (p.Ser1738Ter)
c.1379C>G
n.614C>G
n.685C>G
c.5285C>G (p.Ser1762Ter)
n.12C>G
c.4337C>G (p.Ser1446Ter)
c.5513C>G (p.Ser1838Ter)
c.5402C>G (p.Ser1801Ter)
c.5324C>G (p.Ser1775Ter)
c.4976C>G (p.Ser1659Ter)
c.4601C>G (p.Ser1534Ter)
c.5408C>G (p.Ser1803Ter)
c.5510C>G (p.Ser1837Ter)
c.5453C>G (p.Ser1818Ter)
c.5429C>G (p.Ser1810Ter)
c.5384C>G (p.Ser1795Ter)
3g.53801275C>TCA353250828CACNA1Dc.5318C>T (p.Ser1773Leu)
n.2257C>T
n.693C>T
c.5258C>T (p.Ser1753Leu)
c.5213C>T (p.Ser1738Leu)
c.1379C>T
n.614C>T
n.685C>T
c.5285C>T (p.Ser1762Leu)
n.12C>T
c.4337C>T (p.Ser1446Leu)
c.5513C>T (p.Ser1838Leu)
c.5402C>T (p.Ser1801Leu)
c.5324C>T (p.Ser1775Leu)
c.4976C>T (p.Ser1659Leu)
c.4601C>T (p.Ser1534Leu)
c.5408C>T (p.Ser1803Leu)
c.5510C>T (p.Ser1837Leu)
c.5453C>T (p.Ser1818Leu)
c.5429C>T (p.Ser1810Leu)
c.5384C>T (p.Ser1795Leu)
3g.53801278_53801280delCA2666139599CACNA1Dc.5321_5323del (p.Thr1774del)
n.2260_2262del
n.696_698del
c.5261_5263del (p.Thr1754del)
c.5216_5218del (p.Thr1739del)
c.1382_1384del
n.617_619del
n.688_690del
c.5288_5290del (p.Thr1763del)
n.15_17del
c.4340_4342del (p.Thr1447del)
c.5516_5518del (p.Thr1839del)
c.5405_5407del (p.Thr1802del)
c.5327_5329del (p.Thr1776del)
c.4979_4981del (p.Thr1660del)
c.4604_4606del (p.Thr1535del)
c.5411_5413del (p.Thr1804del)
c.5513_5515del (p.Thr1838del)
c.5456_5458del (p.Thr1819del)
c.5432_5434del (p.Thr1811del)
c.5387_5389del (p.Thr1796del)
 ClinVar gnomAD v4
3g.53801276A=CA1365484184CACNA1Dc.5319A= (p.Ser1773=)
n.2258A=
n.694A=
c.5259A= (p.Ser1753=)
c.5214A= (p.Ser1738=)
c.1380A=
n.615A=
n.686A=
c.5286A= (p.Ser1762=)
n.13A=
c.4338A= (p.Ser1446=)
c.5514A= (p.Ser1838=)
c.5403A= (p.Ser1801=)
c.5325A= (p.Ser1775=)
c.4977A= (p.Ser1659=)
c.4602A= (p.Ser1534=)
c.5409A= (p.Ser1803=)
c.5511A= (p.Ser1837=)
c.5454A= (p.Ser1818=)
c.5430A= (p.Ser1810=)
c.5385A= (p.Ser1795=)
3g.53801276A>CCA433896153CACNA1Dc.5319A>C (p.Ser1773=)
n.2258A>C
n.694A>C
c.5259A>C (p.Ser1753=)
c.5214A>C (p.Ser1738=)
c.1380A>C
n.615A>C
n.686A>C
c.5286A>C (p.Ser1762=)
n.13A>C
c.4338A>C (p.Ser1446=)
c.5514A>C (p.Ser1838=)
c.5403A>C (p.Ser1801=)
c.5325A>C (p.Ser1775=)
c.4977A>C (p.Ser1659=)
c.4602A>C (p.Ser1534=)
c.5409A>C (p.Ser1803=)
c.5511A>C (p.Ser1837=)
c.5454A>C (p.Ser1818=)
c.5430A>C (p.Ser1810=)
c.5385A>C (p.Ser1795=)
 dbSNP
3g.53801276A>GCA433896154CACNA1Dc.5319A>G (p.Ser1773=)
n.2258A>G
n.694A>G
c.5259A>G (p.Ser1753=)
c.5214A>G (p.Ser1738=)
c.1380A>G
n.615A>G
n.686A>G
c.5286A>G (p.Ser1762=)
n.13A>G
c.4338A>G (p.Ser1446=)
c.5514A>G (p.Ser1838=)
c.5403A>G (p.Ser1801=)
c.5325A>G (p.Ser1775=)
c.4977A>G (p.Ser1659=)
c.4602A>G (p.Ser1534=)
c.5409A>G (p.Ser1803=)
c.5511A>G (p.Ser1837=)
c.5454A>G (p.Ser1818=)
c.5430A>G (p.Ser1810=)
c.5385A>G (p.Ser1795=)
 ClinVar dbSNP gnomAD v4
3g.53801276A>TCA433896156CACNA1Dc.5319A>T (p.Ser1773=)
n.2258A>T
n.694A>T
c.5259A>T (p.Ser1753=)
c.5214A>T (p.Ser1738=)
c.1380A>T
n.615A>T
n.686A>T
c.5286A>T (p.Ser1762=)
n.13A>T
c.4338A>T (p.Ser1446=)
c.5514A>T (p.Ser1838=)
c.5403A>T (p.Ser1801=)
c.5325A>T (p.Ser1775=)
c.4977A>T (p.Ser1659=)
c.4602A>T (p.Ser1534=)
c.5409A>T (p.Ser1803=)
c.5511A>T (p.Ser1837=)
c.5454A>T (p.Ser1818=)
c.5430A>T (p.Ser1810=)
c.5385A>T (p.Ser1795=)
3g.53801277A=CA1365484185CACNA1Dc.5320A= (p.Thr1774=)
n.2259A=
n.695A=
c.5260A= (p.Thr1754=)
c.5215A= (p.Thr1739=)
c.1381A=
n.616A=
n.687A=
c.5287A= (p.Thr1763=)
n.14A=
c.4339A= (p.Thr1447=)
c.5515A= (p.Thr1839=)
c.5404A= (p.Thr1802=)
c.5326A= (p.Thr1776=)
c.4978A= (p.Thr1660=)
c.4603A= (p.Thr1535=)
c.5410A= (p.Thr1804=)
c.5512A= (p.Thr1838=)
c.5455A= (p.Thr1819=)
c.5431A= (p.Thr1811=)
c.5386A= (p.Thr1796=)
3g.53801277A>CCA353250831CACNA1Dc.5320A>C (p.Thr1774Pro)
n.2259A>C
n.695A>C
c.5260A>C (p.Thr1754Pro)
c.5215A>C (p.Thr1739Pro)
c.1381A>C
n.616A>C
n.687A>C
c.5287A>C (p.Thr1763Pro)
n.14A>C
c.4339A>C (p.Thr1447Pro)
c.5515A>C (p.Thr1839Pro)
c.5404A>C (p.Thr1802Pro)
c.5326A>C (p.Thr1776Pro)
c.4978A>C (p.Thr1660Pro)
c.4603A>C (p.Thr1535Pro)
c.5410A>C (p.Thr1804Pro)
c.5512A>C (p.Thr1838Pro)
c.5455A>C (p.Thr1819Pro)
c.5431A>C (p.Thr1811Pro)
c.5386A>C (p.Thr1796Pro)
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.53801277A>GCA353250833CACNA1Dc.5320A>G (p.Thr1774Ala)
n.2259A>G
n.695A>G
c.5260A>G (p.Thr1754Ala)
c.5215A>G (p.Thr1739Ala)
c.1381A>G
n.616A>G
n.687A>G
c.5287A>G (p.Thr1763Ala)
n.14A>G
c.4339A>G (p.Thr1447Ala)
c.5515A>G (p.Thr1839Ala)
c.5404A>G (p.Thr1802Ala)
c.5326A>G (p.Thr1776Ala)
c.4978A>G (p.Thr1660Ala)
c.4603A>G (p.Thr1535Ala)
c.5410A>G (p.Thr1804Ala)
c.5512A>G (p.Thr1838Ala)
c.5455A>G (p.Thr1819Ala)
c.5431A>G (p.Thr1811Ala)
c.5386A>G (p.Thr1796Ala)
 gnomAD v4
3g.53801277A>TCA353250834CACNA1Dc.5320A>T (p.Thr1774Ser)
n.2259A>T
n.695A>T
c.5260A>T (p.Thr1754Ser)
c.5215A>T (p.Thr1739Ser)
c.1381A>T
n.616A>T
n.687A>T
c.5287A>T (p.Thr1763Ser)
n.14A>T
c.4339A>T (p.Thr1447Ser)
c.5515A>T (p.Thr1839Ser)
c.5404A>T (p.Thr1802Ser)
c.5326A>T (p.Thr1776Ser)
c.4978A>T (p.Thr1660Ser)
c.4603A>T (p.Thr1535Ser)
c.5410A>T (p.Thr1804Ser)
c.5512A>T (p.Thr1838Ser)
c.5455A>T (p.Thr1819Ser)
c.5431A>T (p.Thr1811Ser)
c.5386A>T (p.Thr1796Ser)
3g.53801278C>ACA353250837CACNA1Dc.5321C>A (p.Thr1774Lys)
n.2260C>A
n.696C>A
c.5261C>A (p.Thr1754Lys)
c.5216C>A (p.Thr1739Lys)
c.1382C>A
n.617C>A
n.688C>A
c.5288C>A (p.Thr1763Lys)
n.15C>A
c.4340C>A (p.Thr1447Lys)
c.5516C>A (p.Thr1839Lys)
c.5405C>A (p.Thr1802Lys)
c.5327C>A (p.Thr1776Lys)
c.4979C>A (p.Thr1660Lys)
c.4604C>A (p.Thr1535Lys)
c.5411C>A (p.Thr1804Lys)
c.5513C>A (p.Thr1838Lys)
c.5456C>A (p.Thr1819Lys)
c.5432C>A (p.Thr1811Lys)
c.5387C>A (p.Thr1796Lys)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.53801278C=CA1365484186CACNA1Dc.5321C= (p.Thr1774=)
n.2260C=
n.696C=
c.5261C= (p.Thr1754=)
c.5216C= (p.Thr1739=)
c.1382C=
n.617C=
n.688C=
c.5288C= (p.Thr1763=)
n.15C=
c.4340C= (p.Thr1447=)
c.5516C= (p.Thr1839=)
c.5405C= (p.Thr1802=)
c.5327C= (p.Thr1776=)
c.4979C= (p.Thr1660=)
c.4604C= (p.Thr1535=)
c.5411C= (p.Thr1804=)
c.5513C= (p.Thr1838=)
c.5456C= (p.Thr1819=)
c.5432C= (p.Thr1811=)
c.5387C= (p.Thr1796=)
3g.53801278C>GCA353250840CACNA1Dc.5321C>G (p.Thr1774Arg)
n.2260C>G
n.696C>G
c.5261C>G (p.Thr1754Arg)
c.5216C>G (p.Thr1739Arg)
c.1382C>G
n.617C>G
n.688C>G
c.5288C>G (p.Thr1763Arg)
n.15C>G
c.4340C>G (p.Thr1447Arg)
c.5516C>G (p.Thr1839Arg)
c.5405C>G (p.Thr1802Arg)
c.5327C>G (p.Thr1776Arg)
c.4979C>G (p.Thr1660Arg)
c.4604C>G (p.Thr1535Arg)
c.5411C>G (p.Thr1804Arg)
c.5513C>G (p.Thr1838Arg)
c.5456C>G (p.Thr1819Arg)
c.5432C>G (p.Thr1811Arg)
c.5387C>G (p.Thr1796Arg)
3g.53801278C>TCA353250839CACNA1Dc.5321C>T (p.Thr1774Ile)
n.2260C>T
n.696C>T
c.5261C>T (p.Thr1754Ile)
c.5216C>T (p.Thr1739Ile)
c.1382C>T
n.617C>T
n.688C>T
c.5288C>T (p.Thr1763Ile)
n.15C>T
c.4340C>T (p.Thr1447Ile)
c.5516C>T (p.Thr1839Ile)
c.5405C>T (p.Thr1802Ile)
c.5327C>T (p.Thr1776Ile)
c.4979C>T (p.Thr1660Ile)
c.4604C>T (p.Thr1535Ile)
c.5411C>T (p.Thr1804Ile)
c.5513C>T (p.Thr1838Ile)
c.5456C>T (p.Thr1819Ile)
c.5432C>T (p.Thr1811Ile)
c.5387C>T (p.Thr1796Ile)
 gnomAD v4
3g.53801279A>CCA433896157CACNA1Dc.5322A>C (p.Thr1774=)
n.2261A>C
n.697A>C
c.5262A>C (p.Thr1754=)
c.5217A>C (p.Thr1739=)
c.1383A>C
n.618A>C
n.689A>C
c.5289A>C (p.Thr1763=)
n.16A>C
c.4341A>C (p.Thr1447=)
c.5517A>C (p.Thr1839=)
c.5406A>C (p.Thr1802=)
c.5328A>C (p.Thr1776=)
c.4980A>C (p.Thr1660=)
c.4605A>C (p.Thr1535=)
c.5412A>C (p.Thr1804=)
c.5514A>C (p.Thr1838=)
c.5457A>C (p.Thr1819=)
c.5433A>C (p.Thr1811=)
c.5388A>C (p.Thr1796=)
3g.53801279A>GCA433896158CACNA1Dc.5322A>G (p.Thr1774=)
n.2261A>G
n.697A>G
c.5262A>G (p.Thr1754=)
c.5217A>G (p.Thr1739=)
c.1383A>G
n.618A>G
n.689A>G
c.5289A>G (p.Thr1763=)
n.16A>G
c.4341A>G (p.Thr1447=)
c.5517A>G (p.Thr1839=)
c.5406A>G (p.Thr1802=)
c.5328A>G (p.Thr1776=)
c.4980A>G (p.Thr1660=)
c.4605A>G (p.Thr1535=)
c.5412A>G (p.Thr1804=)
c.5514A>G (p.Thr1838=)
c.5457A>G (p.Thr1819=)
c.5433A>G (p.Thr1811=)
c.5388A>G (p.Thr1796=)
3g.53801279A>TCA433896159CACNA1Dc.5322A>T (p.Thr1774=)
n.2261A>T
n.697A>T
c.5262A>T (p.Thr1754=)
c.5217A>T (p.Thr1739=)
c.1383A>T
n.618A>T
n.689A>T
c.5289A>T (p.Thr1763=)
n.16A>T
c.4341A>T (p.Thr1447=)
c.5517A>T (p.Thr1839=)
c.5406A>T (p.Thr1802=)
c.5328A>T (p.Thr1776=)
c.4980A>T (p.Thr1660=)
c.4605A>T (p.Thr1535=)
c.5412A>T (p.Thr1804=)
c.5514A>T (p.Thr1838=)
c.5457A>T (p.Thr1819=)
c.5433A>T (p.Thr1811=)
c.5388A>T (p.Thr1796=)
3g.53801280A>CCA353250843CACNA1Dc.5323A>C (p.Asn1775His)
n.2262A>C
n.698A>C
c.5263A>C (p.Asn1755His)
c.5218A>C (p.Asn1740His)
c.1384A>C
n.619A>C
n.690A>C
c.5290A>C (p.Asn1764His)
n.17A>C
c.4342A>C (p.Asn1448His)
c.5518A>C (p.Asn1840His)
c.5407A>C (p.Asn1803His)
c.5329A>C (p.Asn1777His)
c.4981A>C (p.Asn1661His)
c.4606A>C (p.Asn1536His)
c.5413A>C (p.Asn1805His)
c.5515A>C (p.Asn1839His)
c.5458A>C (p.Asn1820His)
c.5434A>C (p.Asn1812His)
c.5389A>C (p.Asn1797His)
3g.53801280A>GCA353250845CACNA1Dc.5323A>G (p.Asn1775Asp)
n.2262A>G
n.698A>G
c.5263A>G (p.Asn1755Asp)
c.5218A>G (p.Asn1740Asp)
c.1384A>G
n.619A>G
n.690A>G
c.5290A>G (p.Asn1764Asp)
n.17A>G
c.4342A>G (p.Asn1448Asp)
c.5518A>G (p.Asn1840Asp)
c.5407A>G (p.Asn1803Asp)
c.5329A>G (p.Asn1777Asp)
c.4981A>G (p.Asn1661Asp)
c.4606A>G (p.Asn1536Asp)
c.5413A>G (p.Asn1805Asp)
c.5515A>G (p.Asn1839Asp)
c.5458A>G (p.Asn1820Asp)
c.5434A>G (p.Asn1812Asp)
c.5389A>G (p.Asn1797Asp)
3g.53801280A>TCA353250847CACNA1Dc.5323A>T (p.Asn1775Tyr)
n.2262A>T
n.698A>T
c.5263A>T (p.Asn1755Tyr)
c.5218A>T (p.Asn1740Tyr)
c.1384A>T
n.619A>T
n.690A>T
c.5290A>T (p.Asn1764Tyr)
n.17A>T
c.4342A>T (p.Asn1448Tyr)
c.5518A>T (p.Asn1840Tyr)
c.5407A>T (p.Asn1803Tyr)
c.5329A>T (p.Asn1777Tyr)
c.4981A>T (p.Asn1661Tyr)
c.4606A>T (p.Asn1536Tyr)
c.5413A>T (p.Asn1805Tyr)
c.5515A>T (p.Asn1839Tyr)
c.5458A>T (p.Asn1820Tyr)
c.5434A>T (p.Asn1812Tyr)
c.5389A>T (p.Asn1797Tyr)
3g.53801281A>CCA353250850CACNA1Dc.5324A>C (p.Asn1775Thr)
n.2263A>C
n.699A>C
c.5264A>C (p.Asn1755Thr)
c.5219A>C (p.Asn1740Thr)
c.1385A>C
n.620A>C
n.691A>C
c.5291A>C (p.Asn1764Thr)
n.18A>C
c.4343A>C (p.Asn1448Thr)
c.5519A>C (p.Asn1840Thr)
c.5408A>C (p.Asn1803Thr)
c.5330A>C (p.Asn1777Thr)
c.4982A>C (p.Asn1661Thr)
c.4607A>C (p.Asn1536Thr)
c.5414A>C (p.Asn1805Thr)
c.5516A>C (p.Asn1839Thr)
c.5459A>C (p.Asn1820Thr)
c.5435A>C (p.Asn1812Thr)
c.5390A>C (p.Asn1797Thr)
 COSMIC
3g.53801281A>GCA353250851CACNA1Dc.5324A>G (p.Asn1775Ser)
n.2263A>G
n.699A>G
c.5264A>G (p.Asn1755Ser)
c.5219A>G (p.Asn1740Ser)
c.1385A>G
n.620A>G
n.691A>G
c.5291A>G (p.Asn1764Ser)
n.18A>G
c.4343A>G (p.Asn1448Ser)
c.5519A>G (p.Asn1840Ser)
c.5408A>G (p.Asn1803Ser)
c.5330A>G (p.Asn1777Ser)
c.4982A>G (p.Asn1661Ser)
c.4607A>G (p.Asn1536Ser)
c.5414A>G (p.Asn1805Ser)
c.5516A>G (p.Asn1839Ser)
c.5459A>G (p.Asn1820Ser)
c.5435A>G (p.Asn1812Ser)
c.5390A>G (p.Asn1797Ser)
3g.53801281A>TCA353250853CACNA1Dc.5324A>T (p.Asn1775Ile)
n.2263A>T
n.699A>T
c.5264A>T (p.Asn1755Ile)
c.5219A>T (p.Asn1740Ile)
c.1385A>T
n.620A>T
n.691A>T
c.5291A>T (p.Asn1764Ile)
n.18A>T
c.4343A>T (p.Asn1448Ile)
c.5519A>T (p.Asn1840Ile)
c.5408A>T (p.Asn1803Ile)
c.5330A>T (p.Asn1777Ile)
c.4982A>T (p.Asn1661Ile)
c.4607A>T (p.Asn1536Ile)
c.5414A>T (p.Asn1805Ile)
c.5516A>T (p.Asn1839Ile)
c.5459A>T (p.Asn1820Ile)
c.5435A>T (p.Asn1812Ile)
c.5390A>T (p.Asn1797Ile)
3g.53801282T>ACA353250855CACNA1Dc.5325T>A (p.Asn1775Lys)
n.2264T>A
n.700T>A
c.5265T>A (p.Asn1755Lys)
c.5220T>A (p.Asn1740Lys)
c.1386T>A
n.621T>A
n.692T>A
c.5292T>A (p.Asn1764Lys)
n.19T>A
c.4344T>A (p.Asn1448Lys)
c.5520T>A (p.Asn1840Lys)
c.5409T>A (p.Asn1803Lys)
c.5331T>A (p.Asn1777Lys)
c.4983T>A (p.Asn1661Lys)
c.4608T>A (p.Asn1536Lys)
c.5415T>A (p.Asn1805Lys)
c.5517T>A (p.Asn1839Lys)
c.5460T>A (p.Asn1820Lys)
c.5436T>A (p.Asn1812Lys)
c.5391T>A (p.Asn1797Lys)
3g.53801282T>CCA433896162CACNA1Dc.5325T>C (p.Asn1775=)
n.2264T>C
n.700T>C
c.5265T>C (p.Asn1755=)
c.5220T>C (p.Asn1740=)
c.1386T>C
n.621T>C
n.692T>C
c.5292T>C (p.Asn1764=)
n.19T>C
c.4344T>C (p.Asn1448=)
c.5520T>C (p.Asn1840=)
c.5409T>C (p.Asn1803=)
c.5331T>C (p.Asn1777=)
c.4983T>C (p.Asn1661=)
c.4608T>C (p.Asn1536=)
c.5415T>C (p.Asn1805=)
c.5517T>C (p.Asn1839=)
c.5460T>C (p.Asn1820=)
c.5436T>C (p.Asn1812=)
c.5391T>C (p.Asn1797=)
3g.53801282T>GCA353250857CACNA1Dc.5325T>G (p.Asn1775Lys)
n.2264T>G
n.700T>G
c.5265T>G (p.Asn1755Lys)
c.5220T>G (p.Asn1740Lys)
c.1386T>G
n.621T>G
n.692T>G
c.5292T>G (p.Asn1764Lys)
n.19T>G
c.4344T>G (p.Asn1448Lys)
c.5520T>G (p.Asn1840Lys)
c.5409T>G (p.Asn1803Lys)
c.5331T>G (p.Asn1777Lys)
c.4983T>G (p.Asn1661Lys)
c.4608T>G (p.Asn1536Lys)
c.5415T>G (p.Asn1805Lys)
c.5517T>G (p.Asn1839Lys)
c.5460T>G (p.Asn1820Lys)
c.5436T>G (p.Asn1812Lys)
c.5391T>G (p.Asn1797Lys)
3g.53801283G>ACA353250860CACNA1Dc.5326G>A (p.Ala1776Thr)
n.2265G>A
n.701G>A
c.5266G>A (p.Ala1756Thr)
c.5221G>A (p.Ala1741Thr)
c.1387G>A
n.622G>A
n.693G>A
c.5293G>A (p.Ala1765Thr)
n.20G>A
c.4345G>A (p.Ala1449Thr)
c.5521G>A (p.Ala1841Thr)
c.5410G>A (p.Ala1804Thr)
c.5332G>A (p.Ala1778Thr)
c.4984G>A (p.Ala1662Thr)
c.4609G>A (p.Ala1537Thr)
c.5416G>A (p.Ala1806Thr)
c.5518G>A (p.Ala1840Thr)
c.5461G>A (p.Ala1821Thr)
c.5437G>A (p.Ala1813Thr)
c.5392G>A (p.Ala1798Thr)
 ClinVar
3g.53801283G>CCA353250861CACNA1Dc.5326G>C (p.Ala1776Pro)
n.2265G>C
n.701G>C
c.5266G>C (p.Ala1756Pro)
c.5221G>C (p.Ala1741Pro)
c.1387G>C
n.622G>C
n.693G>C
c.5293G>C (p.Ala1765Pro)
n.20G>C
c.4345G>C (p.Ala1449Pro)
c.5521G>C (p.Ala1841Pro)
c.5410G>C (p.Ala1804Pro)
c.5332G>C (p.Ala1778Pro)
c.4984G>C (p.Ala1662Pro)
c.4609G>C (p.Ala1537Pro)
c.5416G>C (p.Ala1806Pro)
c.5518G>C (p.Ala1840Pro)
c.5461G>C (p.Ala1821Pro)
c.5437G>C (p.Ala1813Pro)
c.5392G>C (p.Ala1798Pro)
3g.53801283G>TCA353250863CACNA1Dc.5326G>T (p.Ala1776Ser)
n.2265G>T
n.701G>T
c.5266G>T (p.Ala1756Ser)
c.5221G>T (p.Ala1741Ser)
c.1387G>T
n.622G>T
n.693G>T
c.5293G>T (p.Ala1765Ser)
n.20G>T
c.4345G>T (p.Ala1449Ser)
c.5521G>T (p.Ala1841Ser)
c.5410G>T (p.Ala1804Ser)
c.5332G>T (p.Ala1778Ser)
c.4984G>T (p.Ala1662Ser)
c.4609G>T (p.Ala1537Ser)
c.5416G>T (p.Ala1806Ser)
c.5518G>T (p.Ala1840Ser)
c.5461G>T (p.Ala1821Ser)
c.5437G>T (p.Ala1813Ser)
c.5392G>T (p.Ala1798Ser)
3g.53801284C>ACA353250866CACNA1Dc.5327C>A (p.Ala1776Asp)
n.2266C>A
n.702C>A
c.5267C>A (p.Ala1756Asp)
c.5222C>A (p.Ala1741Asp)
c.1388C>A
n.623C>A
n.694C>A
c.5294C>A (p.Ala1765Asp)
n.21C>A
c.4346C>A (p.Ala1449Asp)
c.5522C>A (p.Ala1841Asp)
c.5411C>A (p.Ala1804Asp)
c.5333C>A (p.Ala1778Asp)
c.4985C>A (p.Ala1662Asp)
c.4610C>A (p.Ala1537Asp)
c.5417C>A (p.Ala1806Asp)
c.5519C>A (p.Ala1840Asp)
c.5462C>A (p.Ala1821Asp)
c.5438C>A (p.Ala1813Asp)
c.5393C>A (p.Ala1798Asp)
 gnomAD v4
3g.53801284C>GCA353250867CACNA1Dc.5327C>G (p.Ala1776Gly)
n.2266C>G
n.702C>G
c.5267C>G (p.Ala1756Gly)
c.5222C>G (p.Ala1741Gly)
c.1388C>G
n.623C>G
n.694C>G
c.5294C>G (p.Ala1765Gly)
n.21C>G
c.4346C>G (p.Ala1449Gly)
c.5522C>G (p.Ala1841Gly)
c.5411C>G (p.Ala1804Gly)
c.5333C>G (p.Ala1778Gly)
c.4985C>G (p.Ala1662Gly)
c.4610C>G (p.Ala1537Gly)
c.5417C>G (p.Ala1806Gly)
c.5519C>G (p.Ala1840Gly)
c.5462C>G (p.Ala1821Gly)
c.5438C>G (p.Ala1813Gly)
c.5393C>G (p.Ala1798Gly)
3g.53801284C>TCA353250869CACNA1Dc.5327C>T (p.Ala1776Val)
n.2266C>T
n.702C>T
c.5267C>T (p.Ala1756Val)
c.5222C>T (p.Ala1741Val)
c.1388C>T
n.623C>T
n.694C>T
c.5294C>T (p.Ala1765Val)
n.21C>T
c.4346C>T (p.Ala1449Val)
c.5522C>T (p.Ala1841Val)
c.5411C>T (p.Ala1804Val)
c.5333C>T (p.Ala1778Val)
c.4985C>T (p.Ala1662Val)
c.4610C>T (p.Ala1537Val)
c.5417C>T (p.Ala1806Val)
c.5519C>T (p.Ala1840Val)
c.5462C>T (p.Ala1821Val)
c.5438C>T (p.Ala1813Val)
c.5393C>T (p.Ala1798Val)
 gnomAD v4
3g.53801285C>ACA433896165CACNA1Dc.5328C>A (p.Ala1776=)
n.2267C>A
n.703C>A
c.5268C>A (p.Ala1756=)
c.5223C>A (p.Ala1741=)
c.1389C>A
n.624C>A
n.695C>A
c.5295C>A (p.Ala1765=)
n.22C>A
c.4347C>A (p.Ala1449=)
c.5523C>A (p.Ala1841=)
c.5412C>A (p.Ala1804=)
c.5334C>A (p.Ala1778=)
c.4986C>A (p.Ala1662=)
c.4611C>A (p.Ala1537=)
c.5418C>A (p.Ala1806=)
c.5520C>A (p.Ala1840=)
c.5463C>A (p.Ala1821=)
c.5439C>A (p.Ala1813=)
c.5394C>A (p.Ala1798=)
3g.53801285C>GCA433896164CACNA1Dc.5328C>G (p.Ala1776=)
n.2267C>G
n.703C>G
c.5268C>G (p.Ala1756=)
c.5223C>G (p.Ala1741=)
c.1389C>G
n.624C>G
n.695C>G
c.5295C>G (p.Ala1765=)
n.22C>G
c.4347C>G (p.Ala1449=)
c.5523C>G (p.Ala1841=)
c.5412C>G (p.Ala1804=)
c.5334C>G (p.Ala1778=)
c.4986C>G (p.Ala1662=)
c.4611C>G (p.Ala1537=)
c.5418C>G (p.Ala1806=)
c.5520C>G (p.Ala1840=)
c.5463C>G (p.Ala1821=)
c.5439C>G (p.Ala1813=)
c.5394C>G (p.Ala1798=)
3g.53801285C>TCA433896163CACNA1Dc.5328C>T (p.Ala1776=)
n.2267C>T
n.703C>T
c.5268C>T (p.Ala1756=)
c.5223C>T (p.Ala1741=)
c.1389C>T
n.624C>T
n.695C>T
c.5295C>T (p.Ala1765=)
n.22C>T
c.4347C>T (p.Ala1449=)
c.5523C>T (p.Ala1841=)
c.5412C>T (p.Ala1804=)
c.5334C>T (p.Ala1778=)
c.4986C>T (p.Ala1662=)
c.4611C>T (p.Ala1537=)
c.5418C>T (p.Ala1806=)
c.5520C>T (p.Ala1840=)
c.5463C>T (p.Ala1821=)
c.5439C>T (p.Ala1813=)
c.5394C>T (p.Ala1798=)
 ClinVar
3g.53801286A>CCA353250876CACNA1Dc.5329A>C (p.Asn1777His)
n.2268A>C
n.704A>C
c.5269A>C (p.Asn1757His)
c.5224A>C (p.Asn1742His)
c.1390A>C
n.625A>C
n.696A>C
c.5296A>C (p.Asn1766His)
n.23A>C
c.4348A>C (p.Asn1450His)
c.5524A>C (p.Asn1842His)
c.5413A>C (p.Asn1805His)
c.5335A>C (p.Asn1779His)
c.4987A>C (p.Asn1663His)
c.4612A>C (p.Asn1538His)
c.5419A>C (p.Asn1807His)
c.5521A>C (p.Asn1841His)
c.5464A>C (p.Asn1822His)
c.5440A>C (p.Asn1814His)
c.5395A>C (p.Asn1799His)
3g.53801286A>GCA353250874CACNA1Dc.5329A>G (p.Asn1777Asp)
n.2268A>G
n.704A>G
c.5269A>G (p.Asn1757Asp)
c.5224A>G (p.Asn1742Asp)
c.1390A>G
n.625A>G
n.696A>G
c.5296A>G (p.Asn1766Asp)
n.23A>G
c.4348A>G (p.Asn1450Asp)
c.5524A>G (p.Asn1842Asp)
c.5413A>G (p.Asn1805Asp)
c.5335A>G (p.Asn1779Asp)
c.4987A>G (p.Asn1663Asp)
c.4612A>G (p.Asn1538Asp)
c.5419A>G (p.Asn1807Asp)
c.5521A>G (p.Asn1841Asp)
c.5464A>G (p.Asn1822Asp)
c.5440A>G (p.Asn1814Asp)
c.5395A>G (p.Asn1799Asp)
3g.53801286A>TCA353250872CACNA1Dc.5329A>T (p.Asn1777Tyr)
n.2268A>T
n.704A>T
c.5269A>T (p.Asn1757Tyr)
c.5224A>T (p.Asn1742Tyr)
c.1390A>T
n.625A>T
n.696A>T
c.5296A>T (p.Asn1766Tyr)
n.23A>T
c.4348A>T (p.Asn1450Tyr)
c.5524A>T (p.Asn1842Tyr)
c.5413A>T (p.Asn1805Tyr)
c.5335A>T (p.Asn1779Tyr)
c.4987A>T (p.Asn1663Tyr)
c.4612A>T (p.Asn1538Tyr)
c.5419A>T (p.Asn1807Tyr)
c.5521A>T (p.Asn1841Tyr)
c.5464A>T (p.Asn1822Tyr)
c.5440A>T (p.Asn1814Tyr)
c.5395A>T (p.Asn1799Tyr)
3g.53801287A=CA1365484187CACNA1Dc.5330A= (p.Asn1777=)
n.2269A=
n.705A=
c.5270A= (p.Asn1757=)
c.5225A= (p.Asn1742=)
c.1391A=
n.626A=
n.697A=
c.5297A= (p.Asn1766=)
n.24A=
c.4349A= (p.Asn1450=)
c.5525A= (p.Asn1842=)
c.5414A= (p.Asn1805=)
c.5336A= (p.Asn1779=)
c.4988A= (p.Asn1663=)
c.4613A= (p.Asn1538=)
c.5420A= (p.Asn1807=)
c.5522A= (p.Asn1841=)
c.5465A= (p.Asn1822=)
c.5441A= (p.Asn1814=)
c.5396A= (p.Asn1799=)
3g.53801287A>CCA353250878CACNA1Dc.5330A>C (p.Asn1777Thr)
n.2269A>C
n.705A>C
c.5270A>C (p.Asn1757Thr)
c.5225A>C (p.Asn1742Thr)
c.1391A>C
n.626A>C
n.697A>C
c.5297A>C (p.Asn1766Thr)
n.24A>C
c.4349A>C (p.Asn1450Thr)
c.5525A>C (p.Asn1842Thr)
c.5414A>C (p.Asn1805Thr)
c.5336A>C (p.Asn1779Thr)
c.4988A>C (p.Asn1663Thr)
c.4613A>C (p.Asn1538Thr)
c.5420A>C (p.Asn1807Thr)
c.5522A>C (p.Asn1841Thr)
c.5465A>C (p.Asn1822Thr)
c.5441A>C (p.Asn1814Thr)
c.5396A>C (p.Asn1799Thr)
3g.53801287A>GCA2455092CACNA1Dc.5330A>G (p.Asn1777Ser)
n.2269A>G
n.705A>G
c.5270A>G (p.Asn1757Ser)
c.5225A>G (p.Asn1742Ser)
c.1391A>G
n.626A>G
n.697A>G
c.5297A>G (p.Asn1766Ser)
n.24A>G
c.4349A>G (p.Asn1450Ser)
c.5525A>G (p.Asn1842Ser)
c.5414A>G (p.Asn1805Ser)
c.5336A>G (p.Asn1779Ser)
c.4988A>G (p.Asn1663Ser)
c.4613A>G (p.Asn1538Ser)
c.5420A>G (p.Asn1807Ser)
c.5522A>G (p.Asn1841Ser)
c.5465A>G (p.Asn1822Ser)
c.5441A>G (p.Asn1814Ser)
c.5396A>G (p.Asn1799Ser)
 dbSNP ExAC gnomAD v2
3g.53801287A>TCA353250881CACNA1Dc.5330A>T (p.Asn1777Ile)
n.2269A>T
n.705A>T
c.5270A>T (p.Asn1757Ile)
c.5225A>T (p.Asn1742Ile)
c.1391A>T
n.626A>T
n.697A>T
c.5297A>T (p.Asn1766Ile)
n.24A>T
c.4349A>T (p.Asn1450Ile)
c.5525A>T (p.Asn1842Ile)
c.5414A>T (p.Asn1805Ile)
c.5336A>T (p.Asn1779Ile)
c.4988A>T (p.Asn1663Ile)
c.4613A>T (p.Asn1538Ile)
c.5420A>T (p.Asn1807Ile)
c.5522A>T (p.Asn1841Ile)
c.5465A>T (p.Asn1822Ile)
c.5441A>T (p.Asn1814Ile)
c.5396A>T (p.Asn1799Ile)

Number of alleles fetched