Chr Mutation (hg38) CAid Gene Transcript Linkouts
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)
3g.53801288T>ACA353250883CACNA1Dc.5331T>A (p.Asn1777Lys)
n.2270T>A
n.706T>A
c.5271T>A (p.Asn1757Lys)
c.5226T>A (p.Asn1742Lys)
c.1392T>A
n.627T>A
n.698T>A
c.5298T>A (p.Asn1766Lys)
n.25T>A
c.4350T>A (p.Asn1450Lys)
c.5526T>A (p.Asn1842Lys)
c.5415T>A (p.Asn1805Lys)
c.5337T>A (p.Asn1779Lys)
c.4989T>A (p.Asn1663Lys)
c.4614T>A (p.Asn1538Lys)
c.5421T>A (p.Asn1807Lys)
c.5523T>A (p.Asn1841Lys)
c.5466T>A (p.Asn1822Lys)
c.5442T>A (p.Asn1814Lys)
c.5397T>A (p.Asn1799Lys)
3g.53801288T>CCA433896169CACNA1Dc.5331T>C (p.Asn1777=)
n.2270T>C
n.706T>C
c.5271T>C (p.Asn1757=)
c.5226T>C (p.Asn1742=)
c.1392T>C
n.627T>C
n.698T>C
c.5298T>C (p.Asn1766=)
n.25T>C
c.4350T>C (p.Asn1450=)
c.5526T>C (p.Asn1842=)
c.5415T>C (p.Asn1805=)
c.5337T>C (p.Asn1779=)
c.4989T>C (p.Asn1663=)
c.4614T>C (p.Asn1538=)
c.5421T>C (p.Asn1807=)
c.5523T>C (p.Asn1841=)
c.5466T>C (p.Asn1822=)
c.5442T>C (p.Asn1814=)
c.5397T>C (p.Asn1799=)
3g.53801288T>GCA353250885CACNA1Dc.5331T>G (p.Asn1777Lys)
n.2270T>G
n.706T>G
c.5271T>G (p.Asn1757Lys)
c.5226T>G (p.Asn1742Lys)
c.1392T>G
n.627T>G
n.698T>G
c.5298T>G (p.Asn1766Lys)
n.25T>G
c.4350T>G (p.Asn1450Lys)
c.5526T>G (p.Asn1842Lys)
c.5415T>G (p.Asn1805Lys)
c.5337T>G (p.Asn1779Lys)
c.4989T>G (p.Asn1663Lys)
c.4614T>G (p.Asn1538Lys)
c.5421T>G (p.Asn1807Lys)
c.5523T>G (p.Asn1841Lys)
c.5466T>G (p.Asn1822Lys)
c.5442T>G (p.Asn1814Lys)
c.5397T>G (p.Asn1799Lys)
 dbSNP gnomAD v3 gnomAD v4
3g.53801288T=CA1365484188CACNA1Dc.5331T= (p.Asn1777=)
n.2270T=
n.706T=
c.5271T= (p.Asn1757=)
c.5226T= (p.Asn1742=)
c.1392T=
n.627T=
n.698T=
c.5298T= (p.Asn1766=)
n.25T=
c.4350T= (p.Asn1450=)
c.5526T= (p.Asn1842=)
c.5415T= (p.Asn1805=)
c.5337T= (p.Asn1779=)
c.4989T= (p.Asn1663=)
c.4614T= (p.Asn1538=)
c.5421T= (p.Asn1807=)
c.5523T= (p.Asn1841=)
c.5466T= (p.Asn1822=)
c.5442T= (p.Asn1814=)
c.5397T= (p.Asn1799=)
3g.53801289C>ACA353250888CACNA1Dc.5332C>A (p.Leu1778Ile)
n.2271C>A
n.707C>A
c.5272C>A (p.Leu1758Ile)
c.5227C>A (p.Leu1743Ile)
c.1393C>A
n.628C>A
n.699C>A
c.5299C>A (p.Leu1767Ile)
n.26C>A
c.4351C>A (p.Leu1451Ile)
c.5527C>A (p.Leu1843Ile)
c.5416C>A (p.Leu1806Ile)
c.5338C>A (p.Leu1780Ile)
c.4990C>A (p.Leu1664Ile)
c.4615C>A (p.Leu1539Ile)
c.5422C>A (p.Leu1808Ile)
c.5524C>A (p.Leu1842Ile)
c.5467C>A (p.Leu1823Ile)
c.5443C>A (p.Leu1815Ile)
c.5398C>A (p.Leu1800Ile)
3g.53801289C>GCA353250889CACNA1Dc.5332C>G (p.Leu1778Val)
n.2271C>G
n.707C>G
c.5272C>G (p.Leu1758Val)
c.5227C>G (p.Leu1743Val)
c.1393C>G
n.628C>G
n.699C>G
c.5299C>G (p.Leu1767Val)
n.26C>G
c.4351C>G (p.Leu1451Val)
c.5527C>G (p.Leu1843Val)
c.5416C>G (p.Leu1806Val)
c.5338C>G (p.Leu1780Val)
c.4990C>G (p.Leu1664Val)
c.4615C>G (p.Leu1539Val)
c.5422C>G (p.Leu1808Val)
c.5524C>G (p.Leu1842Val)
c.5467C>G (p.Leu1823Val)
c.5443C>G (p.Leu1815Val)
c.5398C>G (p.Leu1800Val)
3g.53801289C>TCA353250890CACNA1Dc.5332C>T (p.Leu1778Phe)
n.2271C>T
n.707C>T
c.5272C>T (p.Leu1758Phe)
c.5227C>T (p.Leu1743Phe)
c.1393C>T
n.628C>T
n.699C>T
c.5299C>T (p.Leu1767Phe)
n.26C>T
c.4351C>T (p.Leu1451Phe)
c.5527C>T (p.Leu1843Phe)
c.5416C>T (p.Leu1806Phe)
c.5338C>T (p.Leu1780Phe)
c.4990C>T (p.Leu1664Phe)
c.4615C>T (p.Leu1539Phe)
c.5422C>T (p.Leu1808Phe)
c.5524C>T (p.Leu1842Phe)
c.5467C>T (p.Leu1823Phe)
c.5443C>T (p.Leu1815Phe)
c.5398C>T (p.Leu1800Phe)
3g.53801290T>ACA353250892CACNA1Dc.5333T>A (p.Leu1778His)
n.2272T>A
n.708T>A
c.5273T>A (p.Leu1758His)
c.5228T>A (p.Leu1743His)
c.1394T>A
n.629T>A
n.700T>A
c.5300T>A (p.Leu1767His)
n.27T>A
c.4352T>A (p.Leu1451His)
c.5528T>A (p.Leu1843His)
c.5417T>A (p.Leu1806His)
c.5339T>A (p.Leu1780His)
c.4991T>A (p.Leu1664His)
c.4616T>A (p.Leu1539His)
c.5423T>A (p.Leu1808His)
c.5525T>A (p.Leu1842His)
c.5468T>A (p.Leu1823His)
c.5444T>A (p.Leu1815His)
c.5399T>A (p.Leu1800His)
3g.53801290T>CCA353250894CACNA1Dc.5333T>C (p.Leu1778Pro)
n.2272T>C
n.708T>C
c.5273T>C (p.Leu1758Pro)
c.5228T>C (p.Leu1743Pro)
c.1394T>C
n.629T>C
n.700T>C
c.5300T>C (p.Leu1767Pro)
n.27T>C
c.4352T>C (p.Leu1451Pro)
c.5528T>C (p.Leu1843Pro)
c.5417T>C (p.Leu1806Pro)
c.5339T>C (p.Leu1780Pro)
c.4991T>C (p.Leu1664Pro)
c.4616T>C (p.Leu1539Pro)
c.5423T>C (p.Leu1808Pro)
c.5525T>C (p.Leu1842Pro)
c.5468T>C (p.Leu1823Pro)
c.5444T>C (p.Leu1815Pro)
c.5399T>C (p.Leu1800Pro)
3g.53801290T>GCA353250896CACNA1Dc.5333T>G (p.Leu1778Arg)
n.2272T>G
n.708T>G
c.5273T>G (p.Leu1758Arg)
c.5228T>G (p.Leu1743Arg)
c.1394T>G
n.629T>G
n.700T>G
c.5300T>G (p.Leu1767Arg)
n.27T>G
c.4352T>G (p.Leu1451Arg)
c.5528T>G (p.Leu1843Arg)
c.5417T>G (p.Leu1806Arg)
c.5339T>G (p.Leu1780Arg)
c.4991T>G (p.Leu1664Arg)
c.4616T>G (p.Leu1539Arg)
c.5423T>G (p.Leu1808Arg)
c.5525T>G (p.Leu1842Arg)
c.5468T>G (p.Leu1823Arg)
c.5444T>G (p.Leu1815Arg)
c.5399T>G (p.Leu1800Arg)
3g.53801291C>ACA433896170CACNA1Dc.5334C>A (p.Leu1778=)
n.2273C>A
n.709C>A
c.5274C>A (p.Leu1758=)
c.5229C>A (p.Leu1743=)
c.1395C>A
n.630C>A
n.701C>A
c.5301C>A (p.Leu1767=)
n.28C>A
c.4353C>A (p.Leu1451=)
c.5529C>A (p.Leu1843=)
c.5418C>A (p.Leu1806=)
c.5340C>A (p.Leu1780=)
c.4992C>A (p.Leu1664=)
c.4617C>A (p.Leu1539=)
c.5424C>A (p.Leu1808=)
c.5526C>A (p.Leu1842=)
c.5469C>A (p.Leu1823=)
c.5445C>A (p.Leu1815=)
c.5400C>A (p.Leu1800=)
3g.53801291C>GCA433896172CACNA1Dc.5334C>G (p.Leu1778=)
n.2273C>G
n.709C>G
c.5274C>G (p.Leu1758=)
c.5229C>G (p.Leu1743=)
c.1395C>G
n.630C>G
n.701C>G
c.5301C>G (p.Leu1767=)
n.28C>G
c.4353C>G (p.Leu1451=)
c.5529C>G (p.Leu1843=)
c.5418C>G (p.Leu1806=)
c.5340C>G (p.Leu1780=)
c.4992C>G (p.Leu1664=)
c.4617C>G (p.Leu1539=)
c.5424C>G (p.Leu1808=)
c.5526C>G (p.Leu1842=)
c.5469C>G (p.Leu1823=)
c.5445C>G (p.Leu1815=)
c.5400C>G (p.Leu1800=)
3g.53801291C>TCA433896171CACNA1Dc.5334C>T (p.Leu1778=)
n.2273C>T
n.709C>T
c.5274C>T (p.Leu1758=)
c.5229C>T (p.Leu1743=)
c.1395C>T
n.630C>T
n.701C>T
c.5301C>T (p.Leu1767=)
n.28C>T
c.4353C>T (p.Leu1451=)
c.5529C>T (p.Leu1843=)
c.5418C>T (p.Leu1806=)
c.5340C>T (p.Leu1780=)
c.4992C>T (p.Leu1664=)
c.4617C>T (p.Leu1539=)
c.5424C>T (p.Leu1808=)
c.5526C>T (p.Leu1842=)
c.5469C>T (p.Leu1823=)
c.5445C>T (p.Leu1815=)
c.5400C>T (p.Leu1800=)
3g.53801292A>CCA353250898CACNA1Dc.5335A>C (p.Asn1779His)
n.2274A>C
n.710A>C
c.5275A>C (p.Asn1759His)
c.5230A>C (p.Asn1744His)
c.1396A>C
n.631A>C
n.702A>C
c.5302A>C (p.Asn1768His)
n.29A>C
c.4354A>C (p.Asn1452His)
c.5530A>C (p.Asn1844His)
c.5419A>C (p.Asn1807His)
c.5341A>C (p.Asn1781His)
c.4993A>C (p.Asn1665His)
c.4618A>C (p.Asn1540His)
c.5425A>C (p.Asn1809His)
c.5527A>C (p.Asn1843His)
c.5470A>C (p.Asn1824His)
c.5446A>C (p.Asn1816His)
c.5401A>C (p.Asn1801His)
 gnomAD v4
3g.53801292A>GCA353250900CACNA1Dc.5335A>G (p.Asn1779Asp)
n.2274A>G
n.710A>G
c.5275A>G (p.Asn1759Asp)
c.5230A>G (p.Asn1744Asp)
c.1396A>G
n.631A>G
n.702A>G
c.5302A>G (p.Asn1768Asp)
n.29A>G
c.4354A>G (p.Asn1452Asp)
c.5530A>G (p.Asn1844Asp)
c.5419A>G (p.Asn1807Asp)
c.5341A>G (p.Asn1781Asp)
c.4993A>G (p.Asn1665Asp)
c.4618A>G (p.Asn1540Asp)
c.5425A>G (p.Asn1809Asp)
c.5527A>G (p.Asn1843Asp)
c.5470A>G (p.Asn1824Asp)
c.5446A>G (p.Asn1816Asp)
c.5401A>G (p.Asn1801Asp)
3g.53801292A>TCA353250902CACNA1Dc.5335A>T (p.Asn1779Tyr)
n.2274A>T
n.710A>T
c.5275A>T (p.Asn1759Tyr)
c.5230A>T (p.Asn1744Tyr)
c.1396A>T
n.631A>T
n.702A>T
c.5302A>T (p.Asn1768Tyr)
n.29A>T
c.4354A>T (p.Asn1452Tyr)
c.5530A>T (p.Asn1844Tyr)
c.5419A>T (p.Asn1807Tyr)
c.5341A>T (p.Asn1781Tyr)
c.4993A>T (p.Asn1665Tyr)
c.4618A>T (p.Asn1540Tyr)
c.5425A>T (p.Asn1809Tyr)
c.5527A>T (p.Asn1843Tyr)
c.5470A>T (p.Asn1824Tyr)
c.5446A>T (p.Asn1816Tyr)
c.5401A>T (p.Asn1801Tyr)
3g.53801293A=CA1365484189CACNA1Dc.5336A= (p.Asn1779=)
n.2275A=
n.711A=
c.5276A= (p.Asn1759=)
c.5231A= (p.Asn1744=)
c.1397A=
n.632A=
n.703A=
c.5303A= (p.Asn1768=)
n.30A=
c.4355A= (p.Asn1452=)
c.5531A= (p.Asn1844=)
c.5420A= (p.Asn1807=)
c.5342A= (p.Asn1781=)
c.4994A= (p.Asn1665=)
c.4619A= (p.Asn1540=)
c.5426A= (p.Asn1809=)
c.5528A= (p.Asn1843=)
c.5471A= (p.Asn1824=)
c.5447A= (p.Asn1816=)
c.5402A= (p.Asn1801=)
3g.53801293A>CCA353250906CACNA1Dc.5336A>C (p.Asn1779Thr)
n.2275A>C
n.711A>C
c.5276A>C (p.Asn1759Thr)
c.5231A>C (p.Asn1744Thr)
c.1397A>C
n.632A>C
n.703A>C
c.5303A>C (p.Asn1768Thr)
n.30A>C
c.4355A>C (p.Asn1452Thr)
c.5531A>C (p.Asn1844Thr)
c.5420A>C (p.Asn1807Thr)
c.5342A>C (p.Asn1781Thr)
c.4994A>C (p.Asn1665Thr)
c.4619A>C (p.Asn1540Thr)
c.5426A>C (p.Asn1809Thr)
c.5528A>C (p.Asn1843Thr)
c.5471A>C (p.Asn1824Thr)
c.5447A>C (p.Asn1816Thr)
c.5402A>C (p.Asn1801Thr)
3g.53801293A>GCA353250908CACNA1Dc.5336A>G (p.Asn1779Ser)
n.2275A>G
n.711A>G
c.5276A>G (p.Asn1759Ser)
c.5231A>G (p.Asn1744Ser)
c.1397A>G
n.632A>G
n.703A>G
c.5303A>G (p.Asn1768Ser)
n.30A>G
c.4355A>G (p.Asn1452Ser)
c.5531A>G (p.Asn1844Ser)
c.5420A>G (p.Asn1807Ser)
c.5342A>G (p.Asn1781Ser)
c.4994A>G (p.Asn1665Ser)
c.4619A>G (p.Asn1540Ser)
c.5426A>G (p.Asn1809Ser)
c.5528A>G (p.Asn1843Ser)
c.5471A>G (p.Asn1824Ser)
c.5447A>G (p.Asn1816Ser)
c.5402A>G (p.Asn1801Ser)
 ClinVar dbSNP gnomAD v4
3g.53801293A>TCA353250904CACNA1Dc.5336A>T (p.Asn1779Ile)
n.2275A>T
n.711A>T
c.5276A>T (p.Asn1759Ile)
c.5231A>T (p.Asn1744Ile)
c.1397A>T
n.632A>T
n.703A>T
c.5303A>T (p.Asn1768Ile)
n.30A>T
c.4355A>T (p.Asn1452Ile)
c.5531A>T (p.Asn1844Ile)
c.5420A>T (p.Asn1807Ile)
c.5342A>T (p.Asn1781Ile)
c.4994A>T (p.Asn1665Ile)
c.4619A>T (p.Asn1540Ile)
c.5426A>T (p.Asn1809Ile)
c.5528A>T (p.Asn1843Ile)
c.5471A>T (p.Asn1824Ile)
c.5447A>T (p.Asn1816Ile)
c.5402A>T (p.Asn1801Ile)
3g.53801294T>ACA353250910CACNA1Dc.5337T>A (p.Asn1779Lys)
n.2276T>A
n.712T>A
c.5277T>A (p.Asn1759Lys)
c.5232T>A (p.Asn1744Lys)
c.1398T>A
n.633T>A
n.704T>A
c.5304T>A (p.Asn1768Lys)
n.31T>A
c.4356T>A (p.Asn1452Lys)
c.5532T>A (p.Asn1844Lys)
c.5421T>A (p.Asn1807Lys)
c.5343T>A (p.Asn1781Lys)
c.4995T>A (p.Asn1665Lys)
c.4620T>A (p.Asn1540Lys)
c.5427T>A (p.Asn1809Lys)
c.5529T>A (p.Asn1843Lys)
c.5472T>A (p.Asn1824Lys)
c.5448T>A (p.Asn1816Lys)
c.5403T>A (p.Asn1801Lys)
3g.53801294T>CCA433896173CACNA1Dc.5337T>C (p.Asn1779=)
n.2276T>C
n.712T>C
c.5277T>C (p.Asn1759=)
c.5232T>C (p.Asn1744=)
c.1398T>C
n.633T>C
n.704T>C
c.5304T>C (p.Asn1768=)
n.31T>C
c.4356T>C (p.Asn1452=)
c.5532T>C (p.Asn1844=)
c.5421T>C (p.Asn1807=)
c.5343T>C (p.Asn1781=)
c.4995T>C (p.Asn1665=)
c.4620T>C (p.Asn1540=)
c.5427T>C (p.Asn1809=)
c.5529T>C (p.Asn1843=)
c.5472T>C (p.Asn1824=)
c.5448T>C (p.Asn1816=)
c.5403T>C (p.Asn1801=)
3g.53801294T>GCA353250912CACNA1Dc.5337T>G (p.Asn1779Lys)
n.2276T>G
n.712T>G
c.5277T>G (p.Asn1759Lys)
c.5232T>G (p.Asn1744Lys)
c.1398T>G
n.633T>G
n.704T>G
c.5304T>G (p.Asn1768Lys)
n.31T>G
c.4356T>G (p.Asn1452Lys)
c.5532T>G (p.Asn1844Lys)
c.5421T>G (p.Asn1807Lys)
c.5343T>G (p.Asn1781Lys)
c.4995T>G (p.Asn1665Lys)
c.4620T>G (p.Asn1540Lys)
c.5427T>G (p.Asn1809Lys)
c.5529T>G (p.Asn1843Lys)
c.5472T>G (p.Asn1824Lys)
c.5448T>G (p.Asn1816Lys)
c.5403T>G (p.Asn1801Lys)
3g.53801295A>CCA353250914CACNA1Dc.5338A>C (p.Asn1780His)
n.2277A>C
n.713A>C
c.5278A>C (p.Asn1760His)
c.5233A>C (p.Asn1745His)
c.1399A>C
n.634A>C
n.705A>C
c.5305A>C (p.Asn1769His)
n.32A>C
c.4357A>C (p.Asn1453His)
c.5533A>C (p.Asn1845His)
c.5422A>C (p.Asn1808His)
c.5344A>C (p.Asn1782His)
c.4996A>C (p.Asn1666His)
c.4621A>C (p.Asn1541His)
c.5428A>C (p.Asn1810His)
c.5530A>C (p.Asn1844His)
c.5473A>C (p.Asn1825His)
c.5449A>C (p.Asn1817His)
c.5404A>C (p.Asn1802His)
3g.53801295A>GCA353250916CACNA1Dc.5338A>G (p.Asn1780Asp)
n.2277A>G
n.713A>G
c.5278A>G (p.Asn1760Asp)
c.5233A>G (p.Asn1745Asp)
c.1399A>G
n.634A>G
n.705A>G
c.5305A>G (p.Asn1769Asp)
n.32A>G
c.4357A>G (p.Asn1453Asp)
c.5533A>G (p.Asn1845Asp)
c.5422A>G (p.Asn1808Asp)
c.5344A>G (p.Asn1782Asp)
c.4996A>G (p.Asn1666Asp)
c.4621A>G (p.Asn1541Asp)
c.5428A>G (p.Asn1810Asp)
c.5530A>G (p.Asn1844Asp)
c.5473A>G (p.Asn1825Asp)
c.5449A>G (p.Asn1817Asp)
c.5404A>G (p.Asn1802Asp)
3g.53801295A>TCA353250918CACNA1Dc.5338A>T (p.Asn1780Tyr)
n.2277A>T
n.713A>T
c.5278A>T (p.Asn1760Tyr)
c.5233A>T (p.Asn1745Tyr)
c.1399A>T
n.634A>T
n.705A>T
c.5305A>T (p.Asn1769Tyr)
n.32A>T
c.4357A>T (p.Asn1453Tyr)
c.5533A>T (p.Asn1845Tyr)
c.5422A>T (p.Asn1808Tyr)
c.5344A>T (p.Asn1782Tyr)
c.4996A>T (p.Asn1666Tyr)
c.4621A>T (p.Asn1541Tyr)
c.5428A>T (p.Asn1810Tyr)
c.5530A>T (p.Asn1844Tyr)
c.5473A>T (p.Asn1825Tyr)
c.5449A>T (p.Asn1817Tyr)
c.5404A>T (p.Asn1802Tyr)
3g.53801296A>CCA353250920CACNA1Dc.5339A>C (p.Asn1780Thr)
n.2278A>C
n.714A>C
c.5279A>C (p.Asn1760Thr)
c.5234A>C (p.Asn1745Thr)
c.1400A>C
n.635A>C
n.706A>C
c.5306A>C (p.Asn1769Thr)
n.33A>C
c.4358A>C (p.Asn1453Thr)
c.5534A>C (p.Asn1845Thr)
c.5423A>C (p.Asn1808Thr)
c.5345A>C (p.Asn1782Thr)
c.4997A>C (p.Asn1666Thr)
c.4622A>C (p.Asn1541Thr)
c.5429A>C (p.Asn1810Thr)
c.5531A>C (p.Asn1844Thr)
c.5474A>C (p.Asn1825Thr)
c.5450A>C (p.Asn1817Thr)
c.5405A>C (p.Asn1802Thr)
3g.53801296A>GCA353250922CACNA1Dc.5339A>G (p.Asn1780Ser)
n.2278A>G
n.714A>G
c.5279A>G (p.Asn1760Ser)
c.5234A>G (p.Asn1745Ser)
c.1400A>G
n.635A>G
n.706A>G
c.5306A>G (p.Asn1769Ser)
n.33A>G
c.4358A>G (p.Asn1453Ser)
c.5534A>G (p.Asn1845Ser)
c.5423A>G (p.Asn1808Ser)
c.5345A>G (p.Asn1782Ser)
c.4997A>G (p.Asn1666Ser)
c.4622A>G (p.Asn1541Ser)
c.5429A>G (p.Asn1810Ser)
c.5531A>G (p.Asn1844Ser)
c.5474A>G (p.Asn1825Ser)
c.5450A>G (p.Asn1817Ser)
c.5405A>G (p.Asn1802Ser)
3g.53801296A>TCA353250924CACNA1Dc.5339A>T (p.Asn1780Ile)
n.2278A>T
n.714A>T
c.5279A>T (p.Asn1760Ile)
c.5234A>T (p.Asn1745Ile)
c.1400A>T
n.635A>T
n.706A>T
c.5306A>T (p.Asn1769Ile)
n.33A>T
c.4358A>T (p.Asn1453Ile)
c.5534A>T (p.Asn1845Ile)
c.5423A>T (p.Asn1808Ile)
c.5345A>T (p.Asn1782Ile)
c.4997A>T (p.Asn1666Ile)
c.4622A>T (p.Asn1541Ile)
c.5429A>T (p.Asn1810Ile)
c.5531A>T (p.Asn1844Ile)
c.5474A>T (p.Asn1825Ile)
c.5450A>T (p.Asn1817Ile)
c.5405A>T (p.Asn1802Ile)
3g.53801297T>ACA353250926CACNA1Dc.5340T>A (p.Asn1780Lys)
n.2279T>A
n.715T>A
c.5280T>A (p.Asn1760Lys)
c.5235T>A (p.Asn1745Lys)
c.1401T>A
n.636T>A
n.707T>A
c.5307T>A (p.Asn1769Lys)
n.34T>A
c.4359T>A (p.Asn1453Lys)
c.5535T>A (p.Asn1845Lys)
c.5424T>A (p.Asn1808Lys)
c.5346T>A (p.Asn1782Lys)
c.4998T>A (p.Asn1666Lys)
c.4623T>A (p.Asn1541Lys)
c.5430T>A (p.Asn1810Lys)
c.5532T>A (p.Asn1844Lys)
c.5475T>A (p.Asn1825Lys)
c.5451T>A (p.Asn1817Lys)
c.5406T>A (p.Asn1802Lys)
3g.53801297T>CCA433896174CACNA1Dc.5340T>C (p.Asn1780=)
n.2279T>C
n.715T>C
c.5280T>C (p.Asn1760=)
c.5235T>C (p.Asn1745=)
c.1401T>C
n.636T>C
n.707T>C
c.5307T>C (p.Asn1769=)
n.34T>C
c.4359T>C (p.Asn1453=)
c.5535T>C (p.Asn1845=)
c.5424T>C (p.Asn1808=)
c.5346T>C (p.Asn1782=)
c.4998T>C (p.Asn1666=)
c.4623T>C (p.Asn1541=)
c.5430T>C (p.Asn1810=)
c.5532T>C (p.Asn1844=)
c.5475T>C (p.Asn1825=)
c.5451T>C (p.Asn1817=)
c.5406T>C (p.Asn1802=)
3g.53801297T>GCA353250928CACNA1Dc.5340T>G (p.Asn1780Lys)
n.2279T>G
n.715T>G
c.5280T>G (p.Asn1760Lys)
c.5235T>G (p.Asn1745Lys)
c.1401T>G
n.636T>G
n.707T>G
c.5307T>G (p.Asn1769Lys)
n.34T>G
c.4359T>G (p.Asn1453Lys)
c.5535T>G (p.Asn1845Lys)
c.5424T>G (p.Asn1808Lys)
c.5346T>G (p.Asn1782Lys)
c.4998T>G (p.Asn1666Lys)
c.4623T>G (p.Asn1541Lys)
c.5430T>G (p.Asn1810Lys)
c.5532T>G (p.Asn1844Lys)
c.5475T>G (p.Asn1825Lys)
c.5451T>G (p.Asn1817Lys)
c.5406T>G (p.Asn1802Lys)
3g.53801298G>ACA353250931CACNA1Dc.5341G>A (p.Ala1781Thr)
n.2280G>A
n.716G>A
c.5281G>A (p.Ala1761Thr)
c.5236G>A (p.Ala1746Thr)
c.1402G>A
n.637G>A
n.708G>A
c.5308G>A (p.Ala1770Thr)
n.35G>A
c.4360G>A (p.Ala1454Thr)
c.5536G>A (p.Ala1846Thr)
c.5425G>A (p.Ala1809Thr)
c.5347G>A (p.Ala1783Thr)
c.4999G>A (p.Ala1667Thr)
c.4624G>A (p.Ala1542Thr)
c.5431G>A (p.Ala1811Thr)
c.5533G>A (p.Ala1845Thr)
c.5476G>A (p.Ala1826Thr)
c.5452G>A (p.Ala1818Thr)
c.5407G>A (p.Ala1803Thr)
 dbSNP
3g.53801298G>CCA353250932CACNA1Dc.5341G>C (p.Ala1781Pro)
n.2280G>C
n.716G>C
c.5281G>C (p.Ala1761Pro)
c.5236G>C (p.Ala1746Pro)
c.1402G>C
n.637G>C
n.708G>C
c.5308G>C (p.Ala1770Pro)
n.35G>C
c.4360G>C (p.Ala1454Pro)
c.5536G>C (p.Ala1846Pro)
c.5425G>C (p.Ala1809Pro)
c.5347G>C (p.Ala1783Pro)
c.4999G>C (p.Ala1667Pro)
c.4624G>C (p.Ala1542Pro)
c.5431G>C (p.Ala1811Pro)
c.5533G>C (p.Ala1845Pro)
c.5476G>C (p.Ala1826Pro)
c.5452G>C (p.Ala1818Pro)
c.5407G>C (p.Ala1803Pro)
3g.53801298G=CA1365484190CACNA1Dc.5341G= (p.Ala1781=)
n.2280G=
n.716G=
c.5281G= (p.Ala1761=)
c.5236G= (p.Ala1746=)
c.1402G=
n.637G=
n.708G=
c.5308G= (p.Ala1770=)
n.35G=
c.4360G= (p.Ala1454=)
c.5536G= (p.Ala1846=)
c.5425G= (p.Ala1809=)
c.5347G= (p.Ala1783=)
c.4999G= (p.Ala1667=)
c.4624G= (p.Ala1542=)
c.5431G= (p.Ala1811=)
c.5533G= (p.Ala1845=)
c.5476G= (p.Ala1826=)
c.5452G= (p.Ala1818=)
c.5407G= (p.Ala1803=)
3g.53801298G>TCA353250935CACNA1Dc.5341G>T (p.Ala1781Ser)
n.2280G>T
n.716G>T
c.5281G>T (p.Ala1761Ser)
c.5236G>T (p.Ala1746Ser)
c.1402G>T
n.637G>T
n.708G>T
c.5308G>T (p.Ala1770Ser)
n.35G>T
c.4360G>T (p.Ala1454Ser)
c.5536G>T (p.Ala1846Ser)
c.5425G>T (p.Ala1809Ser)
c.5347G>T (p.Ala1783Ser)
c.4999G>T (p.Ala1667Ser)
c.4624G>T (p.Ala1542Ser)
c.5431G>T (p.Ala1811Ser)
c.5533G>T (p.Ala1845Ser)
c.5476G>T (p.Ala1826Ser)
c.5452G>T (p.Ala1818Ser)
c.5407G>T (p.Ala1803Ser)
3g.53801299C>ACA353250941CACNA1Dc.5342C>A (p.Ala1781Asp)
n.2281C>A
n.717C>A
c.5282C>A (p.Ala1761Asp)
c.5237C>A (p.Ala1746Asp)
c.1403C>A
n.638C>A
n.709C>A
c.5309C>A (p.Ala1770Asp)
n.36C>A
c.4361C>A (p.Ala1454Asp)
c.5537C>A (p.Ala1846Asp)
c.5426C>A (p.Ala1809Asp)
c.5348C>A (p.Ala1783Asp)
c.5000C>A (p.Ala1667Asp)
c.4625C>A (p.Ala1542Asp)
c.5432C>A (p.Ala1811Asp)
c.5534C>A (p.Ala1845Asp)
c.5477C>A (p.Ala1826Asp)
c.5453C>A (p.Ala1818Asp)
c.5408C>A (p.Ala1803Asp)
3g.53801299C>GCA353250937CACNA1Dc.5342C>G (p.Ala1781Gly)
n.2281C>G
n.717C>G
c.5282C>G (p.Ala1761Gly)
c.5237C>G (p.Ala1746Gly)
c.1403C>G
n.638C>G
n.709C>G
c.5309C>G (p.Ala1770Gly)
n.36C>G
c.4361C>G (p.Ala1454Gly)
c.5537C>G (p.Ala1846Gly)
c.5426C>G (p.Ala1809Gly)
c.5348C>G (p.Ala1783Gly)
c.5000C>G (p.Ala1667Gly)
c.4625C>G (p.Ala1542Gly)
c.5432C>G (p.Ala1811Gly)
c.5534C>G (p.Ala1845Gly)
c.5477C>G (p.Ala1826Gly)
c.5453C>G (p.Ala1818Gly)
c.5408C>G (p.Ala1803Gly)
3g.53801299C>TCA353250939CACNA1Dc.5342C>T (p.Ala1781Val)
n.2281C>T
n.717C>T
c.5282C>T (p.Ala1761Val)
c.5237C>T (p.Ala1746Val)
c.1403C>T
n.638C>T
n.709C>T
c.5309C>T (p.Ala1770Val)
n.36C>T
c.4361C>T (p.Ala1454Val)
c.5537C>T (p.Ala1846Val)
c.5426C>T (p.Ala1809Val)
c.5348C>T (p.Ala1783Val)
c.5000C>T (p.Ala1667Val)
c.4625C>T (p.Ala1542Val)
c.5432C>T (p.Ala1811Val)
c.5534C>T (p.Ala1845Val)
c.5477C>T (p.Ala1826Val)
c.5453C>T (p.Ala1818Val)
c.5408C>T (p.Ala1803Val)
3g.53801300C>ACA433896175CACNA1Dc.5343C>A (p.Ala1781=)
n.2282C>A
n.718C>A
c.5283C>A (p.Ala1761=)
c.5238C>A (p.Ala1746=)
c.1404C>A
n.639C>A
n.710C>A
c.5310C>A (p.Ala1770=)
n.37C>A
c.4362C>A (p.Ala1454=)
c.5538C>A (p.Ala1846=)
c.5427C>A (p.Ala1809=)
c.5349C>A (p.Ala1783=)
c.5001C>A (p.Ala1667=)
c.4626C>A (p.Ala1542=)
c.5433C>A (p.Ala1811=)
c.5535C>A (p.Ala1845=)
c.5478C>A (p.Ala1826=)
c.5454C>A (p.Ala1818=)
c.5409C>A (p.Ala1803=)
3g.53801300C=CA1365484191CACNA1Dc.5343C= (p.Ala1781=)
n.2282C=
n.718C=
c.5283C= (p.Ala1761=)
c.5238C= (p.Ala1746=)
c.1404C=
n.639C=
n.710C=
c.5310C= (p.Ala1770=)
n.37C=
c.4362C= (p.Ala1454=)
c.5538C= (p.Ala1846=)
c.5427C= (p.Ala1809=)
c.5349C= (p.Ala1783=)
c.5001C= (p.Ala1667=)
c.4626C= (p.Ala1542=)
c.5433C= (p.Ala1811=)
c.5535C= (p.Ala1845=)
c.5478C= (p.Ala1826=)
c.5454C= (p.Ala1818=)
c.5409C= (p.Ala1803=)
3g.53801300C>GCA433896176CACNA1Dc.5343C>G (p.Ala1781=)
n.2282C>G
n.718C>G
c.5283C>G (p.Ala1761=)
c.5238C>G (p.Ala1746=)
c.1404C>G
n.639C>G
n.710C>G
c.5310C>G (p.Ala1770=)
n.37C>G
c.4362C>G (p.Ala1454=)
c.5538C>G (p.Ala1846=)
c.5427C>G (p.Ala1809=)
c.5349C>G (p.Ala1783=)
c.5001C>G (p.Ala1667=)
c.4626C>G (p.Ala1542=)
c.5433C>G (p.Ala1811=)
c.5535C>G (p.Ala1845=)
c.5478C>G (p.Ala1826=)
c.5454C>G (p.Ala1818=)
c.5409C>G (p.Ala1803=)
3g.53801300C>TCA2455093CACNA1Dc.5343C>T (p.Ala1781=)
n.2282C>T
n.718C>T
c.5283C>T (p.Ala1761=)
c.5238C>T (p.Ala1746=)
c.1404C>T
n.639C>T
n.710C>T
c.5310C>T (p.Ala1770=)
n.37C>T
c.4362C>T (p.Ala1454=)
c.5538C>T (p.Ala1846=)
c.5427C>T (p.Ala1809=)
c.5349C>T (p.Ala1783=)
c.5001C>T (p.Ala1667=)
c.4626C>T (p.Ala1542=)
c.5433C>T (p.Ala1811=)
c.5535C>T (p.Ala1845=)
c.5478C>T (p.Ala1826=)
c.5454C>T (p.Ala1818=)
c.5409C>T (p.Ala1803=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.53801301A=CA1365484192CACNA1Dc.5344A= (p.Asn1782=)
n.2283A=
n.719A=
c.5284A= (p.Asn1762=)
c.5239A= (p.Asn1747=)
c.1405A=
n.640A=
n.711A=
c.5311A= (p.Asn1771=)
n.38A=
c.4363A= (p.Asn1455=)
c.5539A= (p.Asn1847=)
c.5428A= (p.Asn1810=)
c.5350A= (p.Asn1784=)
c.5002A= (p.Asn1668=)
c.4627A= (p.Asn1543=)
c.5434A= (p.Asn1812=)
c.5536A= (p.Asn1846=)
c.5479A= (p.Asn1827=)
c.5455A= (p.Asn1819=)
c.5410A= (p.Asn1804=)
3g.53801301A>CCA353250945CACNA1Dc.5344A>C (p.Asn1782His)
n.2283A>C
n.719A>C
c.5284A>C (p.Asn1762His)
c.5239A>C (p.Asn1747His)
c.1405A>C
n.640A>C
n.711A>C
c.5311A>C (p.Asn1771His)
n.38A>C
c.4363A>C (p.Asn1455His)
c.5539A>C (p.Asn1847His)
c.5428A>C (p.Asn1810His)
c.5350A>C (p.Asn1784His)
c.5002A>C (p.Asn1668His)
c.4627A>C (p.Asn1543His)
c.5434A>C (p.Asn1812His)
c.5536A>C (p.Asn1846His)
c.5479A>C (p.Asn1827His)
c.5455A>C (p.Asn1819His)
c.5410A>C (p.Asn1804His)
3g.53801301A>GCA353250946CACNA1Dc.5344A>G (p.Asn1782Asp)
n.2283A>G
n.719A>G
c.5284A>G (p.Asn1762Asp)
c.5239A>G (p.Asn1747Asp)
c.1405A>G
n.640A>G
n.711A>G
c.5311A>G (p.Asn1771Asp)
n.38A>G
c.4363A>G (p.Asn1455Asp)
c.5539A>G (p.Asn1847Asp)
c.5428A>G (p.Asn1810Asp)
c.5350A>G (p.Asn1784Asp)
c.5002A>G (p.Asn1668Asp)
c.4627A>G (p.Asn1543Asp)
c.5434A>G (p.Asn1812Asp)
c.5536A>G (p.Asn1846Asp)
c.5479A>G (p.Asn1827Asp)
c.5455A>G (p.Asn1819Asp)
c.5410A>G (p.Asn1804Asp)
 dbSNP gnomAD v2 gnomAD v4
3g.53801301A>TCA353250947CACNA1Dc.5344A>T (p.Asn1782Tyr)
n.2283A>T
n.719A>T
c.5284A>T (p.Asn1762Tyr)
c.5239A>T (p.Asn1747Tyr)
c.1405A>T
n.640A>T
n.711A>T
c.5311A>T (p.Asn1771Tyr)
n.38A>T
c.4363A>T (p.Asn1455Tyr)
c.5539A>T (p.Asn1847Tyr)
c.5428A>T (p.Asn1810Tyr)
c.5350A>T (p.Asn1784Tyr)
c.5002A>T (p.Asn1668Tyr)
c.4627A>T (p.Asn1543Tyr)
c.5434A>T (p.Asn1812Tyr)
c.5536A>T (p.Asn1846Tyr)
c.5479A>T (p.Asn1827Tyr)
c.5455A>T (p.Asn1819Tyr)
c.5410A>T (p.Asn1804Tyr)
3g.53801302A=CA1365484193CACNA1Dc.5345A= (p.Asn1782=)
n.2284A=
n.720A=
c.5285A= (p.Asn1762=)
c.5240A= (p.Asn1747=)
c.1406A=
n.641A=
n.712A=
c.5312A= (p.Asn1771=)
n.39A=
c.4364A= (p.Asn1455=)
c.5540A= (p.Asn1847=)
c.5429A= (p.Asn1810=)
c.5351A= (p.Asn1784=)
c.5003A= (p.Asn1668=)
c.4628A= (p.Asn1543=)
c.5435A= (p.Asn1812=)
c.5537A= (p.Asn1846=)
c.5480A= (p.Asn1827=)
c.5456A= (p.Asn1819=)
c.5411A= (p.Asn1804=)
3g.53801302A>CCA353250950CACNA1Dc.5345A>C (p.Asn1782Thr)
n.2284A>C
n.720A>C
c.5285A>C (p.Asn1762Thr)
c.5240A>C (p.Asn1747Thr)
c.1406A>C
n.641A>C
n.712A>C
c.5312A>C (p.Asn1771Thr)
n.39A>C
c.4364A>C (p.Asn1455Thr)
c.5540A>C (p.Asn1847Thr)
c.5429A>C (p.Asn1810Thr)
c.5351A>C (p.Asn1784Thr)
c.5003A>C (p.Asn1668Thr)
c.4628A>C (p.Asn1543Thr)
c.5435A>C (p.Asn1812Thr)
c.5537A>C (p.Asn1846Thr)
c.5480A>C (p.Asn1827Thr)
c.5456A>C (p.Asn1819Thr)
c.5411A>C (p.Asn1804Thr)
3g.53801302A>GCA2455094CACNA1Dc.5345A>G (p.Asn1782Ser)
n.2284A>G
n.720A>G
c.5285A>G (p.Asn1762Ser)
c.5240A>G (p.Asn1747Ser)
c.1406A>G
n.641A>G
n.712A>G
c.5312A>G (p.Asn1771Ser)
n.39A>G
c.4364A>G (p.Asn1455Ser)
c.5540A>G (p.Asn1847Ser)
c.5429A>G (p.Asn1810Ser)
c.5351A>G (p.Asn1784Ser)
c.5003A>G (p.Asn1668Ser)
c.4628A>G (p.Asn1543Ser)
c.5435A>G (p.Asn1812Ser)
c.5537A>G (p.Asn1846Ser)
c.5480A>G (p.Asn1827Ser)
c.5456A>G (p.Asn1819Ser)
c.5411A>G (p.Asn1804Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.53801302A>TCA353250953CACNA1Dc.5345A>T (p.Asn1782Ile)
n.2284A>T
n.720A>T
c.5285A>T (p.Asn1762Ile)
c.5240A>T (p.Asn1747Ile)
c.1406A>T
n.641A>T
n.712A>T
c.5312A>T (p.Asn1771Ile)
n.39A>T
c.4364A>T (p.Asn1455Ile)
c.5540A>T (p.Asn1847Ile)
c.5429A>T (p.Asn1810Ile)
c.5351A>T (p.Asn1784Ile)
c.5003A>T (p.Asn1668Ile)
c.4628A>T (p.Asn1543Ile)
c.5435A>T (p.Asn1812Ile)
c.5537A>T (p.Asn1846Ile)
c.5480A>T (p.Asn1827Ile)
c.5456A>T (p.Asn1819Ile)
c.5411A>T (p.Asn1804Ile)
3g.53801303T>ACA353250955CACNA1Dc.5346T>A (p.Asn1782Lys)
n.2285T>A
n.721T>A
c.5286T>A (p.Asn1762Lys)
c.5241T>A (p.Asn1747Lys)
c.1407T>A
n.642T>A
n.713T>A
c.5313T>A (p.Asn1771Lys)
n.40T>A
c.4365T>A (p.Asn1455Lys)
c.5541T>A (p.Asn1847Lys)
c.5430T>A (p.Asn1810Lys)
c.5352T>A (p.Asn1784Lys)
c.5004T>A (p.Asn1668Lys)
c.4629T>A (p.Asn1543Lys)
c.5436T>A (p.Asn1812Lys)
c.5538T>A (p.Asn1846Lys)
c.5481T>A (p.Asn1827Lys)
c.5457T>A (p.Asn1819Lys)
c.5412T>A (p.Asn1804Lys)
3g.53801303T>CCA433896177CACNA1Dc.5346T>C (p.Asn1782=)
n.2285T>C
n.721T>C
c.5286T>C (p.Asn1762=)
c.5241T>C (p.Asn1747=)
c.1407T>C
n.642T>C
n.713T>C
c.5313T>C (p.Asn1771=)
n.40T>C
c.4365T>C (p.Asn1455=)
c.5541T>C (p.Asn1847=)
c.5430T>C (p.Asn1810=)
c.5352T>C (p.Asn1784=)
c.5004T>C (p.Asn1668=)
c.4629T>C (p.Asn1543=)
c.5436T>C (p.Asn1812=)
c.5538T>C (p.Asn1846=)
c.5481T>C (p.Asn1827=)
c.5457T>C (p.Asn1819=)
c.5412T>C (p.Asn1804=)
3g.53801303T>GCA353250957CACNA1Dc.5346T>G (p.Asn1782Lys)
n.2285T>G
n.721T>G
c.5286T>G (p.Asn1762Lys)
c.5241T>G (p.Asn1747Lys)
c.1407T>G
n.642T>G
n.713T>G
c.5313T>G (p.Asn1771Lys)
n.40T>G
c.4365T>G (p.Asn1455Lys)
c.5541T>G (p.Asn1847Lys)
c.5430T>G (p.Asn1810Lys)
c.5352T>G (p.Asn1784Lys)
c.5004T>G (p.Asn1668Lys)
c.4629T>G (p.Asn1543Lys)
c.5436T>G (p.Asn1812Lys)
c.5538T>G (p.Asn1846Lys)
c.5481T>G (p.Asn1827Lys)
c.5457T>G (p.Asn1819Lys)
c.5412T>G (p.Asn1804Lys)
3g.53801304A=CA1365484194CACNA1Dc.5347A= (p.Met1783=)
n.2286A=
n.722A=
c.5287A= (p.Met1763=)
c.5242A= (p.Met1748=)
c.1408A=
n.643A=
n.714A=
c.5314A= (p.Met1772=)
n.41A=
c.4366A= (p.Met1456=)
c.5542A= (p.Met1848=)
c.5431A= (p.Met1811=)
c.5353A= (p.Met1785=)
c.5005A= (p.Met1669=)
c.4630A= (p.Met1544=)
c.5437A= (p.Met1813=)
c.5539A= (p.Met1847=)
c.5482A= (p.Met1828=)
c.5458A= (p.Met1820=)
c.5413A= (p.Met1805=)
3g.53801304A>CCA353250959CACNA1Dc.5347A>C (p.Met1783Leu)
n.2286A>C
n.722A>C
c.5287A>C (p.Met1763Leu)
c.5242A>C (p.Met1748Leu)
c.1408A>C
n.643A>C
n.714A>C
c.5314A>C (p.Met1772Leu)
n.41A>C
c.4366A>C (p.Met1456Leu)
c.5542A>C (p.Met1848Leu)
c.5431A>C (p.Met1811Leu)
c.5353A>C (p.Met1785Leu)
c.5005A>C (p.Met1669Leu)
c.4630A>C (p.Met1544Leu)
c.5437A>C (p.Met1813Leu)
c.5539A>C (p.Met1847Leu)
c.5482A>C (p.Met1828Leu)
c.5458A>C (p.Met1820Leu)
c.5413A>C (p.Met1805Leu)
3g.53801304A>GCA2455095CACNA1Dc.5347A>G (p.Met1783Val)
n.2286A>G
n.722A>G
c.5287A>G (p.Met1763Val)
c.5242A>G (p.Met1748Val)
c.1408A>G
n.643A>G
n.714A>G
c.5314A>G (p.Met1772Val)
n.41A>G
c.4366A>G (p.Met1456Val)
c.5542A>G (p.Met1848Val)
c.5431A>G (p.Met1811Val)
c.5353A>G (p.Met1785Val)
c.5005A>G (p.Met1669Val)
c.4630A>G (p.Met1544Val)
c.5437A>G (p.Met1813Val)
c.5539A>G (p.Met1847Val)
c.5482A>G (p.Met1828Val)
c.5458A>G (p.Met1820Val)
c.5413A>G (p.Met1805Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.53801304A>TCA353250962CACNA1Dc.5347A>T (p.Met1783Leu)
n.2286A>T
n.722A>T
c.5287A>T (p.Met1763Leu)
c.5242A>T (p.Met1748Leu)
c.1408A>T
n.643A>T
n.714A>T
c.5314A>T (p.Met1772Leu)
n.41A>T
c.4366A>T (p.Met1456Leu)
c.5542A>T (p.Met1848Leu)
c.5431A>T (p.Met1811Leu)
c.5353A>T (p.Met1785Leu)
c.5005A>T (p.Met1669Leu)
c.4630A>T (p.Met1544Leu)
c.5437A>T (p.Met1813Leu)
c.5539A>T (p.Met1847Leu)
c.5482A>T (p.Met1828Leu)
c.5458A>T (p.Met1820Leu)
c.5413A>T (p.Met1805Leu)
3g.53801305T>ACA353250965CACNA1Dc.5348T>A (p.Met1783Lys)
n.2287T>A
n.723T>A
c.5288T>A (p.Met1763Lys)
c.5243T>A (p.Met1748Lys)
c.1409T>A
n.644T>A
n.715T>A
c.5315T>A (p.Met1772Lys)
n.42T>A
c.4367T>A (p.Met1456Lys)
c.5543T>A (p.Met1848Lys)
c.5432T>A (p.Met1811Lys)
c.5354T>A (p.Met1785Lys)
c.5006T>A (p.Met1669Lys)
c.4631T>A (p.Met1544Lys)
c.5438T>A (p.Met1813Lys)
c.5540T>A (p.Met1847Lys)
c.5483T>A (p.Met1828Lys)
c.5459T>A (p.Met1820Lys)
c.5414T>A (p.Met1805Lys)
3g.53801305T>CCA353250968CACNA1Dc.5348T>C (p.Met1783Thr)
n.2287T>C
n.723T>C
c.5288T>C (p.Met1763Thr)
c.5243T>C (p.Met1748Thr)
c.1409T>C
n.644T>C
n.715T>C
c.5315T>C (p.Met1772Thr)
n.42T>C
c.4367T>C (p.Met1456Thr)
c.5543T>C (p.Met1848Thr)
c.5432T>C (p.Met1811Thr)
c.5354T>C (p.Met1785Thr)
c.5006T>C (p.Met1669Thr)
c.4631T>C (p.Met1544Thr)
c.5438T>C (p.Met1813Thr)
c.5540T>C (p.Met1847Thr)
c.5483T>C (p.Met1828Thr)
c.5459T>C (p.Met1820Thr)
c.5414T>C (p.Met1805Thr)
 dbSNP gnomAD v4
3g.53801305T>GCA353250967CACNA1Dc.5348T>G (p.Met1783Arg)
n.2287T>G
n.723T>G
c.5288T>G (p.Met1763Arg)
c.5243T>G (p.Met1748Arg)
c.1409T>G
n.644T>G
n.715T>G
c.5315T>G (p.Met1772Arg)
n.42T>G
c.4367T>G (p.Met1456Arg)
c.5543T>G (p.Met1848Arg)
c.5432T>G (p.Met1811Arg)
c.5354T>G (p.Met1785Arg)
c.5006T>G (p.Met1669Arg)
c.4631T>G (p.Met1544Arg)
c.5438T>G (p.Met1813Arg)
c.5540T>G (p.Met1847Arg)
c.5483T>G (p.Met1828Arg)
c.5459T>G (p.Met1820Arg)
c.5414T>G (p.Met1805Arg)
3g.53801305T=CA1365484195CACNA1Dc.5348T= (p.Met1783=)
n.2287T=
n.723T=
c.5288T= (p.Met1763=)
c.5243T= (p.Met1748=)
c.1409T=
n.644T=
n.715T=
c.5315T= (p.Met1772=)
n.42T=
c.4367T= (p.Met1456=)
c.5543T= (p.Met1848=)
c.5432T= (p.Met1811=)
c.5354T= (p.Met1785=)
c.5006T= (p.Met1669=)
c.4631T= (p.Met1544=)
c.5438T= (p.Met1813=)
c.5540T= (p.Met1847=)
c.5483T= (p.Met1828=)
c.5459T= (p.Met1820=)
c.5414T= (p.Met1805=)
3g.53801306G>ACA353250971CACNA1Dc.5349G>A (p.Met1783Ile)
n.2288G>A
n.724G>A
c.5289G>A (p.Met1763Ile)
c.5244G>A (p.Met1748Ile)
c.1410G>A
n.645G>A
n.716G>A
c.5316G>A (p.Met1772Ile)
n.43G>A
c.4368G>A (p.Met1456Ile)
c.5544G>A (p.Met1848Ile)
c.5433G>A (p.Met1811Ile)
c.5355G>A (p.Met1785Ile)
c.5007G>A (p.Met1669Ile)
c.4632G>A (p.Met1544Ile)
c.5439G>A (p.Met1813Ile)
c.5541G>A (p.Met1847Ile)
c.5484G>A (p.Met1828Ile)
c.5460G>A (p.Met1820Ile)
c.5415G>A (p.Met1805Ile)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.53801306G>CCA353250975CACNA1Dc.5349G>C (p.Met1783Ile)
n.2288G>C
n.724G>C
c.5289G>C (p.Met1763Ile)
c.5244G>C (p.Met1748Ile)
c.1410G>C
n.645G>C
n.716G>C
c.5316G>C (p.Met1772Ile)
n.43G>C
c.4368G>C (p.Met1456Ile)
c.5544G>C (p.Met1848Ile)
c.5433G>C (p.Met1811Ile)
c.5355G>C (p.Met1785Ile)
c.5007G>C (p.Met1669Ile)
c.4632G>C (p.Met1544Ile)
c.5439G>C (p.Met1813Ile)
c.5541G>C (p.Met1847Ile)
c.5484G>C (p.Met1828Ile)
c.5460G>C (p.Met1820Ile)
c.5415G>C (p.Met1805Ile)
3g.53801306G=CA1365484196CACNA1Dc.5349G= (p.Met1783=)
n.2288G=
n.724G=
c.5289G= (p.Met1763=)
c.5244G= (p.Met1748=)
c.1410G=
n.645G=
n.716G=
c.5316G= (p.Met1772=)
n.43G=
c.4368G= (p.Met1456=)
c.5544G= (p.Met1848=)
c.5433G= (p.Met1811=)
c.5355G= (p.Met1785=)
c.5007G= (p.Met1669=)
c.4632G= (p.Met1544=)
c.5439G= (p.Met1813=)
c.5541G= (p.Met1847=)
c.5484G= (p.Met1828=)
c.5460G= (p.Met1820=)
c.5415G= (p.Met1805=)
3g.53801306G>TCA353250973CACNA1Dc.5349G>T (p.Met1783Ile)
n.2288G>T
n.724G>T
c.5289G>T (p.Met1763Ile)
c.5244G>T (p.Met1748Ile)
c.1410G>T
n.645G>T
n.716G>T
c.5316G>T (p.Met1772Ile)
n.43G>T
c.4368G>T (p.Met1456Ile)
c.5544G>T (p.Met1848Ile)
c.5433G>T (p.Met1811Ile)
c.5355G>T (p.Met1785Ile)
c.5007G>T (p.Met1669Ile)
c.4632G>T (p.Met1544Ile)
c.5439G>T (p.Met1813Ile)
c.5541G>T (p.Met1847Ile)
c.5484G>T (p.Met1828Ile)
c.5460G>T (p.Met1820Ile)
c.5415G>T (p.Met1805Ile)
3g.53801307T>ACA353250978CACNA1Dc.5350T>A (p.Ser1784Thr)
n.2289T>A
n.725T>A
c.5290T>A (p.Ser1764Thr)
c.5245T>A (p.Ser1749Thr)
c.1411T>A
n.646T>A
n.717T>A
c.5317T>A (p.Ser1773Thr)
n.44T>A
c.4369T>A (p.Ser1457Thr)
c.5545T>A (p.Ser1849Thr)
c.5434T>A (p.Ser1812Thr)
c.5356T>A (p.Ser1786Thr)
c.5008T>A (p.Ser1670Thr)
c.4633T>A (p.Ser1545Thr)
c.5440T>A (p.Ser1814Thr)
c.5542T>A (p.Ser1848Thr)
c.5485T>A (p.Ser1829Thr)
c.5461T>A (p.Ser1821Thr)
c.5416T>A (p.Ser1806Thr)
3g.53801307T>CCA353250980CACNA1Dc.5350T>C (p.Ser1784Pro)
n.2289T>C
n.725T>C
c.5290T>C (p.Ser1764Pro)
c.5245T>C (p.Ser1749Pro)
c.1411T>C
n.646T>C
n.717T>C
c.5317T>C (p.Ser1773Pro)
n.44T>C
c.4369T>C (p.Ser1457Pro)
c.5545T>C (p.Ser1849Pro)
c.5434T>C (p.Ser1812Pro)
c.5356T>C (p.Ser1786Pro)
c.5008T>C (p.Ser1670Pro)
c.4633T>C (p.Ser1545Pro)
c.5440T>C (p.Ser1814Pro)
c.5542T>C (p.Ser1848Pro)
c.5485T>C (p.Ser1829Pro)
c.5461T>C (p.Ser1821Pro)
c.5416T>C (p.Ser1806Pro)
3g.53801307T>GCA353250981CACNA1Dc.5350T>G (p.Ser1784Ala)
n.2289T>G
n.725T>G
c.5290T>G (p.Ser1764Ala)
c.5245T>G (p.Ser1749Ala)
c.1411T>G
n.646T>G
n.717T>G
c.5317T>G (p.Ser1773Ala)
n.44T>G
c.4369T>G (p.Ser1457Ala)
c.5545T>G (p.Ser1849Ala)
c.5434T>G (p.Ser1812Ala)
c.5356T>G (p.Ser1786Ala)
c.5008T>G (p.Ser1670Ala)
c.4633T>G (p.Ser1545Ala)
c.5440T>G (p.Ser1814Ala)
c.5542T>G (p.Ser1848Ala)
c.5485T>G (p.Ser1829Ala)
c.5461T>G (p.Ser1821Ala)
c.5416T>G (p.Ser1806Ala)
3g.53801308C>ACA353250984CACNA1Dc.5351C>A (p.Ser1784Tyr)
n.2290C>A
n.726C>A
c.5291C>A (p.Ser1764Tyr)
c.5246C>A (p.Ser1749Tyr)
c.1412C>A
n.647C>A
n.718C>A
c.5318C>A (p.Ser1773Tyr)
n.45C>A
c.4370C>A (p.Ser1457Tyr)
c.5546C>A (p.Ser1849Tyr)
c.5435C>A (p.Ser1812Tyr)
c.5357C>A (p.Ser1786Tyr)
c.5009C>A (p.Ser1670Tyr)
c.4634C>A (p.Ser1545Tyr)
c.5441C>A (p.Ser1814Tyr)
c.5543C>A (p.Ser1848Tyr)
c.5486C>A (p.Ser1829Tyr)
c.5462C>A (p.Ser1821Tyr)
c.5417C>A (p.Ser1806Tyr)
 dbSNP
3g.53801308C>GCA353250986CACNA1Dc.5351C>G (p.Ser1784Cys)
n.2290C>G
n.726C>G
c.5291C>G (p.Ser1764Cys)
c.5246C>G (p.Ser1749Cys)
c.1412C>G
n.647C>G
n.718C>G
c.5318C>G (p.Ser1773Cys)
n.45C>G
c.4370C>G (p.Ser1457Cys)
c.5546C>G (p.Ser1849Cys)
c.5435C>G (p.Ser1812Cys)
c.5357C>G (p.Ser1786Cys)
c.5009C>G (p.Ser1670Cys)
c.4634C>G (p.Ser1545Cys)
c.5441C>G (p.Ser1814Cys)
c.5543C>G (p.Ser1848Cys)
c.5486C>G (p.Ser1829Cys)
c.5462C>G (p.Ser1821Cys)
c.5417C>G (p.Ser1806Cys)
3g.53801308C>TCA353250988CACNA1Dc.5351C>T (p.Ser1784Phe)
n.2290C>T
n.726C>T
c.5291C>T (p.Ser1764Phe)
c.5246C>T (p.Ser1749Phe)
c.1412C>T
n.647C>T
n.718C>T
c.5318C>T (p.Ser1773Phe)
n.45C>T
c.4370C>T (p.Ser1457Phe)
c.5546C>T (p.Ser1849Phe)
c.5435C>T (p.Ser1812Phe)
c.5357C>T (p.Ser1786Phe)
c.5009C>T (p.Ser1670Phe)
c.4634C>T (p.Ser1545Phe)
c.5441C>T (p.Ser1814Phe)
c.5543C>T (p.Ser1848Phe)
c.5486C>T (p.Ser1829Phe)
c.5462C>T (p.Ser1821Phe)
c.5417C>T (p.Ser1806Phe)
3g.53801309C>ACA433896178CACNA1Dc.5352C>A (p.Ser1784=)
n.2291C>A
n.727C>A
c.5292C>A (p.Ser1764=)
c.5247C>A (p.Ser1749=)
c.1413C>A
n.648C>A
n.719C>A
c.5319C>A (p.Ser1773=)
n.46C>A
c.4371C>A (p.Ser1457=)
c.5547C>A (p.Ser1849=)
c.5436C>A (p.Ser1812=)
c.5358C>A (p.Ser1786=)
c.5010C>A (p.Ser1670=)
c.4635C>A (p.Ser1545=)
c.5442C>A (p.Ser1814=)
c.5544C>A (p.Ser1848=)
c.5487C>A (p.Ser1829=)
c.5463C>A (p.Ser1821=)
c.5418C>A (p.Ser1806=)
3g.53801309C=CA1365484197CACNA1Dc.5352C= (p.Ser1784=)
n.2291C=
n.727C=
c.5292C= (p.Ser1764=)
c.5247C= (p.Ser1749=)
c.1413C=
n.648C=
n.719C=
c.5319C= (p.Ser1773=)
n.46C=
c.4371C= (p.Ser1457=)
c.5547C= (p.Ser1849=)
c.5436C= (p.Ser1812=)
c.5358C= (p.Ser1786=)
c.5010C= (p.Ser1670=)
c.4635C= (p.Ser1545=)
c.5442C= (p.Ser1814=)
c.5544C= (p.Ser1848=)
c.5487C= (p.Ser1829=)
c.5463C= (p.Ser1821=)
c.5418C= (p.Ser1806=)
3g.53801309C>GCA433896180CACNA1Dc.5352C>G (p.Ser1784=)
n.2291C>G
n.727C>G
c.5292C>G (p.Ser1764=)
c.5247C>G (p.Ser1749=)
c.1413C>G
n.648C>G
n.719C>G
c.5319C>G (p.Ser1773=)
n.46C>G
c.4371C>G (p.Ser1457=)
c.5547C>G (p.Ser1849=)
c.5436C>G (p.Ser1812=)
c.5358C>G (p.Ser1786=)
c.5010C>G (p.Ser1670=)
c.4635C>G (p.Ser1545=)
c.5442C>G (p.Ser1814=)
c.5544C>G (p.Ser1848=)
c.5487C>G (p.Ser1829=)
c.5463C>G (p.Ser1821=)
c.5418C>G (p.Ser1806=)
3g.53801309C>TCA433896179CACNA1Dc.5352C>T (p.Ser1784=)
n.2291C>T
n.727C>T
c.5292C>T (p.Ser1764=)
c.5247C>T (p.Ser1749=)
c.1413C>T
n.648C>T
n.719C>T
c.5319C>T (p.Ser1773=)
n.46C>T
c.4371C>T (p.Ser1457=)
c.5547C>T (p.Ser1849=)
c.5436C>T (p.Ser1812=)
c.5358C>T (p.Ser1786=)
c.5010C>T (p.Ser1670=)
c.4635C>T (p.Ser1545=)
c.5442C>T (p.Ser1814=)
c.5544C>T (p.Ser1848=)
c.5487C>T (p.Ser1829=)
c.5463C>T (p.Ser1821=)
c.5418C>T (p.Ser1806=)
 dbSNP gnomAD v2
3g.53801310A>CCA353250990CACNA1Dc.5353A>C (p.Lys1785Gln)
n.2292A>C
n.728A>C
c.5293A>C (p.Lys1765Gln)
c.5248A>C (p.Lys1750Gln)
c.1414A>C
n.649A>C
n.720A>C
c.5320A>C (p.Lys1774Gln)
n.47A>C
c.4372A>C (p.Lys1458Gln)
c.5548A>C (p.Lys1850Gln)
c.5437A>C (p.Lys1813Gln)
c.5359A>C (p.Lys1787Gln)
c.5011A>C (p.Lys1671Gln)
c.4636A>C (p.Lys1546Gln)
c.5443A>C (p.Lys1815Gln)
c.5545A>C (p.Lys1849Gln)
c.5488A>C (p.Lys1830Gln)
c.5464A>C (p.Lys1822Gln)
c.5419A>C (p.Lys1807Gln)
3g.53801310A>GCA353250992CACNA1Dc.5353A>G (p.Lys1785Glu)
n.2292A>G
n.728A>G
c.5293A>G (p.Lys1765Glu)
c.5248A>G (p.Lys1750Glu)
c.1414A>G
n.649A>G
n.720A>G
c.5320A>G (p.Lys1774Glu)
n.47A>G
c.4372A>G (p.Lys1458Glu)
c.5548A>G (p.Lys1850Glu)
c.5437A>G (p.Lys1813Glu)
c.5359A>G (p.Lys1787Glu)
c.5011A>G (p.Lys1671Glu)
c.4636A>G (p.Lys1546Glu)
c.5443A>G (p.Lys1815Glu)
c.5545A>G (p.Lys1849Glu)
c.5488A>G (p.Lys1830Glu)
c.5464A>G (p.Lys1822Glu)
c.5419A>G (p.Lys1807Glu)
3g.53801310A>TCA353250993CACNA1Dc.5353A>T (p.Lys1785Ter)
n.2292A>T
n.728A>T
c.5293A>T (p.Lys1765Ter)
c.5248A>T (p.Lys1750Ter)
c.1414A>T
n.649A>T
n.720A>T
c.5320A>T (p.Lys1774Ter)
n.47A>T
c.4372A>T (p.Lys1458Ter)
c.5548A>T (p.Lys1850Ter)
c.5437A>T (p.Lys1813Ter)
c.5359A>T (p.Lys1787Ter)
c.5011A>T (p.Lys1671Ter)
c.4636A>T (p.Lys1546Ter)
c.5443A>T (p.Lys1815Ter)
c.5545A>T (p.Lys1849Ter)
c.5488A>T (p.Lys1830Ter)
c.5464A>T (p.Lys1822Ter)
c.5419A>T (p.Lys1807Ter)
3g.53801311A>CCA353250994CACNA1Dc.5354A>C (p.Lys1785Thr)
n.2293A>C
n.729A>C
c.5294A>C (p.Lys1765Thr)
c.5249A>C (p.Lys1750Thr)
c.1415A>C
n.650A>C
n.721A>C
c.5321A>C (p.Lys1774Thr)
n.48A>C
c.4373A>C (p.Lys1458Thr)
c.5549A>C (p.Lys1850Thr)
c.5438A>C (p.Lys1813Thr)
c.5360A>C (p.Lys1787Thr)
c.5012A>C (p.Lys1671Thr)
c.4637A>C (p.Lys1546Thr)
c.5444A>C (p.Lys1815Thr)
c.5546A>C (p.Lys1849Thr)
c.5489A>C (p.Lys1830Thr)
c.5465A>C (p.Lys1822Thr)
c.5420A>C (p.Lys1807Thr)
3g.53801311A>GCA353250995CACNA1Dc.5354A>G (p.Lys1785Arg)
n.2293A>G
n.729A>G
c.5294A>G (p.Lys1765Arg)
c.5249A>G (p.Lys1750Arg)
c.1415A>G
n.650A>G
n.721A>G
c.5321A>G (p.Lys1774Arg)
n.48A>G
c.4373A>G (p.Lys1458Arg)
c.5549A>G (p.Lys1850Arg)
c.5438A>G (p.Lys1813Arg)
c.5360A>G (p.Lys1787Arg)
c.5012A>G (p.Lys1671Arg)
c.4637A>G (p.Lys1546Arg)
c.5444A>G (p.Lys1815Arg)
c.5546A>G (p.Lys1849Arg)
c.5489A>G (p.Lys1830Arg)
c.5465A>G (p.Lys1822Arg)
c.5420A>G (p.Lys1807Arg)
3g.53801311A>TCA353250997CACNA1Dc.5354A>T (p.Lys1785Ile)
n.2293A>T
n.729A>T
c.5294A>T (p.Lys1765Ile)
c.5249A>T (p.Lys1750Ile)
c.1415A>T
n.650A>T
n.721A>T
c.5321A>T (p.Lys1774Ile)
n.48A>T
c.4373A>T (p.Lys1458Ile)
c.5549A>T (p.Lys1850Ile)
c.5438A>T (p.Lys1813Ile)
c.5360A>T (p.Lys1787Ile)
c.5012A>T (p.Lys1671Ile)
c.4637A>T (p.Lys1546Ile)
c.5444A>T (p.Lys1815Ile)
c.5546A>T (p.Lys1849Ile)
c.5489A>T (p.Lys1830Ile)
c.5465A>T (p.Lys1822Ile)
c.5420A>T (p.Lys1807Ile)
 gnomAD v4
3g.53801312A>CCA353250999CACNA1Dc.5355A>C (p.Lys1785Asn)
n.2294A>C
n.730A>C
c.5295A>C (p.Lys1765Asn)
c.5250A>C (p.Lys1750Asn)
c.1416A>C
n.651A>C
n.722A>C
c.5322A>C (p.Lys1774Asn)
n.49A>C
c.4374A>C (p.Lys1458Asn)
c.5550A>C (p.Lys1850Asn)
c.5439A>C (p.Lys1813Asn)
c.5361A>C (p.Lys1787Asn)
c.5013A>C (p.Lys1671Asn)
c.4638A>C (p.Lys1546Asn)
c.5445A>C (p.Lys1815Asn)
c.5547A>C (p.Lys1849Asn)
c.5490A>C (p.Lys1830Asn)
c.5466A>C (p.Lys1822Asn)
c.5421A>C (p.Lys1807Asn)
 gnomAD v4
3g.53801312A>GCA433896181CACNA1Dc.5355A>G (p.Lys1785=)
n.2294A>G
n.730A>G
c.5295A>G (p.Lys1765=)
c.5250A>G (p.Lys1750=)
c.1416A>G
n.651A>G
n.722A>G
c.5322A>G (p.Lys1774=)
n.49A>G
c.4374A>G (p.Lys1458=)
c.5550A>G (p.Lys1850=)
c.5439A>G (p.Lys1813=)
c.5361A>G (p.Lys1787=)
c.5013A>G (p.Lys1671=)
c.4638A>G (p.Lys1546=)
c.5445A>G (p.Lys1815=)
c.5547A>G (p.Lys1849=)
c.5490A>G (p.Lys1830=)
c.5466A>G (p.Lys1822=)
c.5421A>G (p.Lys1807=)
3g.53801312A>TCA353251001CACNA1Dc.5355A>T (p.Lys1785Asn)
n.2294A>T
n.730A>T
c.5295A>T (p.Lys1765Asn)
c.5250A>T (p.Lys1750Asn)
c.1416A>T
n.651A>T
n.722A>T
c.5322A>T (p.Lys1774Asn)
n.49A>T
c.4374A>T (p.Lys1458Asn)
c.5550A>T (p.Lys1850Asn)
c.5439A>T (p.Lys1813Asn)
c.5361A>T (p.Lys1787Asn)
c.5013A>T (p.Lys1671Asn)
c.4638A>T (p.Lys1546Asn)
c.5445A>T (p.Lys1815Asn)
c.5547A>T (p.Lys1849Asn)
c.5490A>T (p.Lys1830Asn)
c.5466A>T (p.Lys1822Asn)
c.5421A>T (p.Lys1807Asn)
3g.53801313G>ACA2455097CACNA1Dc.5356G>A (p.Ala1786Thr)
n.2295G>A
n.731G>A
c.5296G>A (p.Ala1766Thr)
c.5251G>A (p.Ala1751Thr)
c.1417G>A
n.652G>A
n.723G>A
c.5323G>A (p.Ala1775Thr)
n.50G>A
c.4375G>A (p.Ala1459Thr)
c.5551G>A (p.Ala1851Thr)
c.5440G>A (p.Ala1814Thr)
c.5362G>A (p.Ala1788Thr)
c.5014G>A (p.Ala1672Thr)
c.4639G>A (p.Ala1547Thr)
c.5446G>A (p.Ala1816Thr)
c.5548G>A (p.Ala1850Thr)
c.5491G>A (p.Ala1831Thr)
c.5467G>A (p.Ala1823Thr)
c.5422G>A (p.Ala1808Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.53801313G>CCA2455096CACNA1Dc.5356G>C (p.Ala1786Pro)
n.2295G>C
n.731G>C
c.5296G>C (p.Ala1766Pro)
c.5251G>C (p.Ala1751Pro)
c.1417G>C
n.652G>C
n.723G>C
c.5323G>C (p.Ala1775Pro)
n.50G>C
c.4375G>C (p.Ala1459Pro)
c.5551G>C (p.Ala1851Pro)
c.5440G>C (p.Ala1814Pro)
c.5362G>C (p.Ala1788Pro)
c.5014G>C (p.Ala1672Pro)
c.4639G>C (p.Ala1547Pro)
c.5446G>C (p.Ala1816Pro)
c.5548G>C (p.Ala1850Pro)
c.5491G>C (p.Ala1831Pro)
c.5467G>C (p.Ala1823Pro)
c.5422G>C (p.Ala1808Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.53801313G=CA1365484198CACNA1Dc.5356G= (p.Ala1786=)
n.2295G=
n.731G=
c.5296G= (p.Ala1766=)
c.5251G= (p.Ala1751=)
c.1417G=
n.652G=
n.723G=
c.5323G= (p.Ala1775=)
n.50G=
c.4375G= (p.Ala1459=)
c.5551G= (p.Ala1851=)
c.5440G= (p.Ala1814=)
c.5362G= (p.Ala1788=)
c.5014G= (p.Ala1672=)
c.4639G= (p.Ala1547=)
c.5446G= (p.Ala1816=)
c.5548G= (p.Ala1850=)
c.5491G= (p.Ala1831=)
c.5467G= (p.Ala1823=)
c.5422G= (p.Ala1808=)
3g.53801313G>TCA353251004CACNA1Dc.5356G>T (p.Ala1786Ser)
n.2295G>T
n.731G>T
c.5296G>T (p.Ala1766Ser)
c.5251G>T (p.Ala1751Ser)
c.1417G>T
n.652G>T
n.723G>T
c.5323G>T (p.Ala1775Ser)
n.50G>T
c.4375G>T (p.Ala1459Ser)
c.5551G>T (p.Ala1851Ser)
c.5440G>T (p.Ala1814Ser)
c.5362G>T (p.Ala1788Ser)
c.5014G>T (p.Ala1672Ser)
c.4639G>T (p.Ala1547Ser)
c.5446G>T (p.Ala1816Ser)
c.5548G>T (p.Ala1850Ser)
c.5491G>T (p.Ala1831Ser)
c.5467G>T (p.Ala1823Ser)
c.5422G>T (p.Ala1808Ser)

Number of alleles fetched