Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.53801135C>ACA433895852CACNA1Dc.5178C>A (p.Thr1726=)
n.2194-77C>A
n.553C>A
c.5118C>A (p.Thr1706=)
c.5073C>A (p.Thr1691=)
c.1316-77C>A
n.474C>A
n.545C>A
c.5145C>A (p.Thr1715=)
c.4197C>A (p.Thr1399=)
c.5373C>A (p.Thr1791=)
c.5262C>A (p.Thr1754=)
c.5184C>A (p.Thr1728=)
c.4836C>A (p.Thr1612=)
c.4461C>A (p.Thr1487=)
c.5268C>A (p.Thr1756=)
c.5370C>A (p.Thr1790=)
c.5313C>A (p.Thr1771=)
c.5289C>A (p.Thr1763=)
c.5244C>A (p.Thr1748=)
 gnomAD v4
3g.53801135C=CA1365484151CACNA1Dc.5178C= (p.Thr1726=)
n.2194-77C=
n.553C=
c.5118C= (p.Thr1706=)
c.5073C= (p.Thr1691=)
c.1316-77C=
n.474C=
n.545C=
c.5145C= (p.Thr1715=)
c.4197C= (p.Thr1399=)
c.5373C= (p.Thr1791=)
c.5262C= (p.Thr1754=)
c.5184C= (p.Thr1728=)
c.4836C= (p.Thr1612=)
c.4461C= (p.Thr1487=)
c.5268C= (p.Thr1756=)
c.5370C= (p.Thr1790=)
c.5313C= (p.Thr1771=)
c.5289C= (p.Thr1763=)
c.5244C= (p.Thr1748=)
3g.53801135C>GCA433895853CACNA1Dc.5178C>G (p.Thr1726=)
n.2194-77C>G
n.553C>G
c.5118C>G (p.Thr1706=)
c.5073C>G (p.Thr1691=)
c.1316-77C>G
n.474C>G
n.545C>G
c.5145C>G (p.Thr1715=)
c.4197C>G (p.Thr1399=)
c.5373C>G (p.Thr1791=)
c.5262C>G (p.Thr1754=)
c.5184C>G (p.Thr1728=)
c.4836C>G (p.Thr1612=)
c.4461C>G (p.Thr1487=)
c.5268C>G (p.Thr1756=)
c.5370C>G (p.Thr1790=)
c.5313C>G (p.Thr1771=)
c.5289C>G (p.Thr1763=)
c.5244C>G (p.Thr1748=)
3g.53801135C>TCA2455081CACNA1Dc.5178C>T (p.Thr1726=)
n.2194-77C>T
n.553C>T
c.5118C>T (p.Thr1706=)
c.5073C>T (p.Thr1691=)
c.1316-77C>T
n.474C>T
n.545C>T
c.5145C>T (p.Thr1715=)
c.4197C>T (p.Thr1399=)
c.5373C>T (p.Thr1791=)
c.5262C>T (p.Thr1754=)
c.5184C>T (p.Thr1728=)
c.4836C>T (p.Thr1612=)
c.4461C>T (p.Thr1487=)
c.5268C>T (p.Thr1756=)
c.5370C>T (p.Thr1790=)
c.5313C>T (p.Thr1771=)
c.5289C>T (p.Thr1763=)
c.5244C>T (p.Thr1748=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.53801136A>CCA353249977CACNA1Dc.5179A>C (p.Thr1727Pro)
n.2194-76A>C
n.554A>C
c.5119A>C (p.Thr1707Pro)
c.5074A>C (p.Thr1692Pro)
c.1316-76A>C
n.475A>C
n.546A>C
c.5146A>C (p.Thr1716Pro)
c.4198A>C (p.Thr1400Pro)
c.5374A>C (p.Thr1792Pro)
c.5263A>C (p.Thr1755Pro)
c.5185A>C (p.Thr1729Pro)
c.4837A>C (p.Thr1613Pro)
c.4462A>C (p.Thr1488Pro)
c.5269A>C (p.Thr1757Pro)
c.5371A>C (p.Thr1791Pro)
c.5314A>C (p.Thr1772Pro)
c.5290A>C (p.Thr1764Pro)
c.5245A>C (p.Thr1749Pro)
3g.53801136A>GCA353249979CACNA1Dc.5179A>G (p.Thr1727Ala)
n.2194-76A>G
n.554A>G
c.5119A>G (p.Thr1707Ala)
c.5074A>G (p.Thr1692Ala)
c.1316-76A>G
n.475A>G
n.546A>G
c.5146A>G (p.Thr1716Ala)
c.4198A>G (p.Thr1400Ala)
c.5374A>G (p.Thr1792Ala)
c.5263A>G (p.Thr1755Ala)
c.5185A>G (p.Thr1729Ala)
c.4837A>G (p.Thr1613Ala)
c.4462A>G (p.Thr1488Ala)
c.5269A>G (p.Thr1757Ala)
c.5371A>G (p.Thr1791Ala)
c.5314A>G (p.Thr1772Ala)
c.5290A>G (p.Thr1764Ala)
c.5245A>G (p.Thr1749Ala)
3g.53801136A>TCA353249981CACNA1Dc.5179A>T (p.Thr1727Ser)
n.2194-76A>T
n.554A>T
c.5119A>T (p.Thr1707Ser)
c.5074A>T (p.Thr1692Ser)
c.1316-76A>T
n.475A>T
n.546A>T
c.5146A>T (p.Thr1716Ser)
c.4198A>T (p.Thr1400Ser)
c.5374A>T (p.Thr1792Ser)
c.5263A>T (p.Thr1755Ser)
c.5185A>T (p.Thr1729Ser)
c.4837A>T (p.Thr1613Ser)
c.4462A>T (p.Thr1488Ser)
c.5269A>T (p.Thr1757Ser)
c.5371A>T (p.Thr1791Ser)
c.5314A>T (p.Thr1772Ser)
c.5290A>T (p.Thr1764Ser)
c.5245A>T (p.Thr1749Ser)
3g.53801136_53801137insGGTAATTTAACAAGTATTTGATGCA2545890271CACNA1Dc.5179_5180insGGTAATTTAACAAGTATTTGATG (p.Thr1727ArgfsTer2)
n.2194-76_2194-75insGGTAATTTAACAAGTATTTGATG
n.554_555insGGTAATTTAACAAGTATTTGATG
c.5119_5120insGGTAATTTAACAAGTATTTGATG (p.Thr1707ArgfsTer2)
c.5074_5075insGGTAATTTAACAAGTATTTGATG (p.Thr1692ArgfsTer2)
c.1316-76_1316-75insGGTAATTTAACAAGTATTTGATG
n.475_476insGGTAATTTAACAAGTATTTGATG
n.546_547insGGTAATTTAACAAGTATTTGATG
c.5146_5147insGGTAATTTAACAAGTATTTGATG (p.Thr1716ArgfsTer2)
c.4198_4199insGGTAATTTAACAAGTATTTGATG (p.Thr1400ArgfsTer2)
c.5374_5375insGGTAATTTAACAAGTATTTGATG (p.Thr1792ArgfsTer2)
c.5263_5264insGGTAATTTAACAAGTATTTGATG (p.Thr1755ArgfsTer2)
c.5185_5186insGGTAATTTAACAAGTATTTGATG (p.Thr1729ArgfsTer2)
c.4837_4838insGGTAATTTAACAAGTATTTGATG (p.Thr1613ArgfsTer2)
c.4462_4463insGGTAATTTAACAAGTATTTGATG (p.Thr1488ArgfsTer2)
c.5269_5270insGGTAATTTAACAAGTATTTGATG (p.Thr1757ArgfsTer2)
c.5371_5372insGGTAATTTAACAAGTATTTGATG (p.Thr1791ArgfsTer2)
c.5314_5315insGGTAATTTAACAAGTATTTGATG (p.Thr1772ArgfsTer2)
c.5290_5291insGGTAATTTAACAAGTATTTGATG (p.Thr1764ArgfsTer2)
c.5245_5246insGGTAATTTAACAAGTATTTGATG (p.Thr1749ArgfsTer2)
3g.53801137C>ACA353249982CACNA1Dc.5180C>A (p.Thr1727Asn)
n.2194-75C>A
n.555C>A
c.5120C>A (p.Thr1707Asn)
c.5075C>A (p.Thr1692Asn)
c.1316-75C>A
n.476C>A
n.547C>A
c.5147C>A (p.Thr1716Asn)
c.4199C>A (p.Thr1400Asn)
c.5375C>A (p.Thr1792Asn)
c.5264C>A (p.Thr1755Asn)
c.5186C>A (p.Thr1729Asn)
c.4838C>A (p.Thr1613Asn)
c.4463C>A (p.Thr1488Asn)
c.5270C>A (p.Thr1757Asn)
c.5372C>A (p.Thr1791Asn)
c.5315C>A (p.Thr1772Asn)
c.5291C>A (p.Thr1764Asn)
c.5246C>A (p.Thr1749Asn)
3g.53801137C>GCA353249983CACNA1Dc.5180C>G (p.Thr1727Ser)
n.2194-75C>G
n.555C>G
c.5120C>G (p.Thr1707Ser)
c.5075C>G (p.Thr1692Ser)
c.1316-75C>G
n.476C>G
n.547C>G
c.5147C>G (p.Thr1716Ser)
c.4199C>G (p.Thr1400Ser)
c.5375C>G (p.Thr1792Ser)
c.5264C>G (p.Thr1755Ser)
c.5186C>G (p.Thr1729Ser)
c.4838C>G (p.Thr1613Ser)
c.4463C>G (p.Thr1488Ser)
c.5270C>G (p.Thr1757Ser)
c.5372C>G (p.Thr1791Ser)
c.5315C>G (p.Thr1772Ser)
c.5291C>G (p.Thr1764Ser)
c.5246C>G (p.Thr1749Ser)
3g.53801137C>TCA353249984CACNA1Dc.5180C>T (p.Thr1727Ile)
n.2194-75C>T
n.555C>T
c.5120C>T (p.Thr1707Ile)
c.5075C>T (p.Thr1692Ile)
c.1316-75C>T
n.476C>T
n.547C>T
c.5147C>T (p.Thr1716Ile)
c.4199C>T (p.Thr1400Ile)
c.5375C>T (p.Thr1792Ile)
c.5264C>T (p.Thr1755Ile)
c.5186C>T (p.Thr1729Ile)
c.4838C>T (p.Thr1613Ile)
c.4463C>T (p.Thr1488Ile)
c.5270C>T (p.Thr1757Ile)
c.5372C>T (p.Thr1791Ile)
c.5315C>T (p.Thr1772Ile)
c.5291C>T (p.Thr1764Ile)
c.5246C>T (p.Thr1749Ile)
3g.53801138C>ACA433895861CACNA1Dc.5181C>A (p.Thr1727=)
n.2194-74C>A
n.556C>A
c.5121C>A (p.Thr1707=)
c.5076C>A (p.Thr1692=)
c.1316-74C>A
n.477C>A
n.548C>A
c.5148C>A (p.Thr1716=)
c.4200C>A (p.Thr1400=)
c.5376C>A (p.Thr1792=)
c.5265C>A (p.Thr1755=)
c.5187C>A (p.Thr1729=)
c.4839C>A (p.Thr1613=)
c.4464C>A (p.Thr1488=)
c.5271C>A (p.Thr1757=)
c.5373C>A (p.Thr1791=)
c.5316C>A (p.Thr1772=)
c.5292C>A (p.Thr1764=)
c.5247C>A (p.Thr1749=)
3g.53801138C>GCA433895868CACNA1Dc.5181C>G (p.Thr1727=)
n.2194-74C>G
n.556C>G
c.5121C>G (p.Thr1707=)
c.5076C>G (p.Thr1692=)
c.1316-74C>G
n.477C>G
n.548C>G
c.5148C>G (p.Thr1716=)
c.4200C>G (p.Thr1400=)
c.5376C>G (p.Thr1792=)
c.5265C>G (p.Thr1755=)
c.5187C>G (p.Thr1729=)
c.4839C>G (p.Thr1613=)
c.4464C>G (p.Thr1488=)
c.5271C>G (p.Thr1757=)
c.5373C>G (p.Thr1791=)
c.5316C>G (p.Thr1772=)
c.5292C>G (p.Thr1764=)
c.5247C>G (p.Thr1749=)
3g.53801138C>TCA433895863CACNA1Dc.5181C>T (p.Thr1727=)
n.2194-74C>T
n.556C>T
c.5121C>T (p.Thr1707=)
c.5076C>T (p.Thr1692=)
c.1316-74C>T
n.477C>T
n.548C>T
c.5148C>T (p.Thr1716=)
c.4200C>T (p.Thr1400=)
c.5376C>T (p.Thr1792=)
c.5265C>T (p.Thr1755=)
c.5187C>T (p.Thr1729=)
c.4839C>T (p.Thr1613=)
c.4464C>T (p.Thr1488=)
c.5271C>T (p.Thr1757=)
c.5373C>T (p.Thr1791=)
c.5316C>T (p.Thr1772=)
c.5292C>T (p.Thr1764=)
c.5247C>T (p.Thr1749=)
3g.53801139C>ACA353249987CACNA1Dc.5182C>A (p.His1728Asn)
n.2194-73C>A
n.557C>A
c.5122C>A (p.His1708Asn)
c.5077C>A (p.His1693Asn)
c.1316-73C>A
n.478C>A
n.549C>A
c.5149C>A (p.His1717Asn)
c.4201C>A (p.His1401Asn)
c.5377C>A (p.His1793Asn)
c.5266C>A (p.His1756Asn)
c.5188C>A (p.His1730Asn)
c.4840C>A (p.His1614Asn)
c.4465C>A (p.His1489Asn)
c.5272C>A (p.His1758Asn)
c.5374C>A (p.His1792Asn)
c.5317C>A (p.His1773Asn)
c.5293C>A (p.His1765Asn)
c.5248C>A (p.His1750Asn)
3g.53801139C=CA1365484152CACNA1Dc.5182C= (p.His1728=)
n.2194-73C=
n.557C=
c.5122C= (p.His1708=)
c.5077C= (p.His1693=)
c.1316-73C=
n.478C=
n.549C=
c.5149C= (p.His1717=)
c.4201C= (p.His1401=)
c.5377C= (p.His1793=)
c.5266C= (p.His1756=)
c.5188C= (p.His1730=)
c.4840C= (p.His1614=)
c.4465C= (p.His1489=)
c.5272C= (p.His1758=)
c.5374C= (p.His1792=)
c.5317C= (p.His1773=)
c.5293C= (p.His1765=)
c.5248C= (p.His1750=)
3g.53801139C>GCA353249989CACNA1Dc.5182C>G (p.His1728Asp)
n.2194-73C>G
n.557C>G
c.5122C>G (p.His1708Asp)
c.5077C>G (p.His1693Asp)
c.1316-73C>G
n.478C>G
n.549C>G
c.5149C>G (p.His1717Asp)
c.4201C>G (p.His1401Asp)
c.5377C>G (p.His1793Asp)
c.5266C>G (p.His1756Asp)
c.5188C>G (p.His1730Asp)
c.4840C>G (p.His1614Asp)
c.4465C>G (p.His1489Asp)
c.5272C>G (p.His1758Asp)
c.5374C>G (p.His1792Asp)
c.5317C>G (p.His1773Asp)
c.5293C>G (p.His1765Asp)
c.5248C>G (p.His1750Asp)
3g.53801139C>TCA353249991CACNA1Dc.5182C>T (p.His1728Tyr)
n.2194-73C>T
n.557C>T
c.5122C>T (p.His1708Tyr)
c.5077C>T (p.His1693Tyr)
c.1316-73C>T
n.478C>T
n.549C>T
c.5149C>T (p.His1717Tyr)
c.4201C>T (p.His1401Tyr)
c.5377C>T (p.His1793Tyr)
c.5266C>T (p.His1756Tyr)
c.5188C>T (p.His1730Tyr)
c.4840C>T (p.His1614Tyr)
c.4465C>T (p.His1489Tyr)
c.5272C>T (p.His1758Tyr)
c.5374C>T (p.His1792Tyr)
c.5317C>T (p.His1773Tyr)
c.5293C>T (p.His1765Tyr)
c.5248C>T (p.His1750Tyr)
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.53801140A>CCA353249997CACNA1Dc.5183A>C (p.His1728Pro)
n.2194-72A>C
n.558A>C
c.5123A>C (p.His1708Pro)
c.5078A>C (p.His1693Pro)
c.1316-72A>C
n.479A>C
n.550A>C
c.5150A>C (p.His1717Pro)
c.4202A>C (p.His1401Pro)
c.5378A>C (p.His1793Pro)
c.5267A>C (p.His1756Pro)
c.5189A>C (p.His1730Pro)
c.4841A>C (p.His1614Pro)
c.4466A>C (p.His1489Pro)
c.5273A>C (p.His1758Pro)
c.5375A>C (p.His1792Pro)
c.5318A>C (p.His1773Pro)
c.5294A>C (p.His1765Pro)
c.5249A>C (p.His1750Pro)
3g.53801140A>GCA353249996CACNA1Dc.5183A>G (p.His1728Arg)
n.2194-72A>G
n.558A>G
c.5123A>G (p.His1708Arg)
c.5078A>G (p.His1693Arg)
c.1316-72A>G
n.479A>G
n.550A>G
c.5150A>G (p.His1717Arg)
c.4202A>G (p.His1401Arg)
c.5378A>G (p.His1793Arg)
c.5267A>G (p.His1756Arg)
c.5189A>G (p.His1730Arg)
c.4841A>G (p.His1614Arg)
c.4466A>G (p.His1489Arg)
c.5273A>G (p.His1758Arg)
c.5375A>G (p.His1792Arg)
c.5318A>G (p.His1773Arg)
c.5294A>G (p.His1765Arg)
c.5249A>G (p.His1750Arg)
3g.53801140A>TCA353249994CACNA1Dc.5183A>T (p.His1728Leu)
n.2194-72A>T
n.558A>T
c.5123A>T (p.His1708Leu)
c.5078A>T (p.His1693Leu)
c.1316-72A>T
n.479A>T
n.550A>T
c.5150A>T (p.His1717Leu)
c.4202A>T (p.His1401Leu)
c.5378A>T (p.His1793Leu)
c.5267A>T (p.His1756Leu)
c.5189A>T (p.His1730Leu)
c.4841A>T (p.His1614Leu)
c.4466A>T (p.His1489Leu)
c.5273A>T (p.His1758Leu)
c.5375A>T (p.His1792Leu)
c.5318A>T (p.His1773Leu)
c.5294A>T (p.His1765Leu)
c.5249A>T (p.His1750Leu)
3g.53801141C>ACA353250000CACNA1Dc.5184C>A (p.His1728Gln)
n.2194-71C>A
n.559C>A
c.5124C>A (p.His1708Gln)
c.5079C>A (p.His1693Gln)
c.1316-71C>A
n.480C>A
n.551C>A
c.5151C>A (p.His1717Gln)
c.4203C>A (p.His1401Gln)
c.5379C>A (p.His1793Gln)
c.5268C>A (p.His1756Gln)
c.5190C>A (p.His1730Gln)
c.4842C>A (p.His1614Gln)
c.4467C>A (p.His1489Gln)
c.5274C>A (p.His1758Gln)
c.5376C>A (p.His1792Gln)
c.5319C>A (p.His1773Gln)
c.5295C>A (p.His1765Gln)
c.5250C>A (p.His1750Gln)
3g.53801141C=CA1365484153CACNA1Dc.5184C= (p.His1728=)
n.2194-71C=
n.559C=
c.5124C= (p.His1708=)
c.5079C= (p.His1693=)
c.1316-71C=
n.480C=
n.551C=
c.5151C= (p.His1717=)
c.4203C= (p.His1401=)
c.5379C= (p.His1793=)
c.5268C= (p.His1756=)
c.5190C= (p.His1730=)
c.4842C= (p.His1614=)
c.4467C= (p.His1489=)
c.5274C= (p.His1758=)
c.5376C= (p.His1792=)
c.5319C= (p.His1773=)
c.5295C= (p.His1765=)
c.5250C= (p.His1750=)
3g.53801141C>GCA353249998CACNA1Dc.5184C>G (p.His1728Gln)
n.2194-71C>G
n.559C>G
c.5124C>G (p.His1708Gln)
c.5079C>G (p.His1693Gln)
c.1316-71C>G
n.480C>G
n.551C>G
c.5151C>G (p.His1717Gln)
c.4203C>G (p.His1401Gln)
c.5379C>G (p.His1793Gln)
c.5268C>G (p.His1756Gln)
c.5190C>G (p.His1730Gln)
c.4842C>G (p.His1614Gln)
c.4467C>G (p.His1489Gln)
c.5274C>G (p.His1758Gln)
c.5376C>G (p.His1792Gln)
c.5319C>G (p.His1773Gln)
c.5295C>G (p.His1765Gln)
c.5250C>G (p.His1750Gln)
3g.53801141C>TCA74859849CACNA1Dc.5184C>T (p.His1728=)
n.2194-71C>T
n.559C>T
c.5124C>T (p.His1708=)
c.5079C>T (p.His1693=)
c.1316-71C>T
n.480C>T
n.551C>T
c.5151C>T (p.His1717=)
c.4203C>T (p.His1401=)
c.5379C>T (p.His1793=)
c.5268C>T (p.His1756=)
c.5190C>T (p.His1730=)
c.4842C>T (p.His1614=)
c.4467C>T (p.His1489=)
c.5274C>T (p.His1758=)
c.5376C>T (p.His1792=)
c.5319C>T (p.His1773=)
c.5295C>T (p.His1765=)
c.5250C>T (p.His1750=)
 dbSNP gnomAD v2 gnomAD v4
3g.53801142C>ACA353250003CACNA1Dc.5185C>A (p.Arg1729Ser)
n.2194-70C>A
n.560C>A
c.5125C>A (p.Arg1709Ser)
c.5080C>A (p.Arg1694Ser)
c.1316-70C>A
n.481C>A
n.552C>A
c.5152C>A (p.Arg1718Ser)
c.4204C>A (p.Arg1402Ser)
c.5380C>A (p.Arg1794Ser)
c.5269C>A (p.Arg1757Ser)
c.5191C>A (p.Arg1731Ser)
c.4843C>A (p.Arg1615Ser)
c.4468C>A (p.Arg1490Ser)
c.5275C>A (p.Arg1759Ser)
c.5377C>A (p.Arg1793Ser)
c.5320C>A (p.Arg1774Ser)
c.5296C>A (p.Arg1766Ser)
c.5251C>A (p.Arg1751Ser)
3g.53801142C=CA1365484154CACNA1Dc.5185C= (p.Arg1729=)
n.2194-70C=
n.560C=
c.5125C= (p.Arg1709=)
c.5080C= (p.Arg1694=)
c.1316-70C=
n.481C=
n.552C=
c.5152C= (p.Arg1718=)
c.4204C= (p.Arg1402=)
c.5380C= (p.Arg1794=)
c.5269C= (p.Arg1757=)
c.5191C= (p.Arg1731=)
c.4843C= (p.Arg1615=)
c.4468C= (p.Arg1490=)
c.5275C= (p.Arg1759=)
c.5377C= (p.Arg1793=)
c.5320C= (p.Arg1774=)
c.5296C= (p.Arg1766=)
c.5251C= (p.Arg1751=)
3g.53801142C>GCA353250005CACNA1Dc.5185C>G (p.Arg1729Gly)
n.2194-70C>G
n.560C>G
c.5125C>G (p.Arg1709Gly)
c.5080C>G (p.Arg1694Gly)
c.1316-70C>G
n.481C>G
n.552C>G
c.5152C>G (p.Arg1718Gly)
c.4204C>G (p.Arg1402Gly)
c.5380C>G (p.Arg1794Gly)
c.5269C>G (p.Arg1757Gly)
c.5191C>G (p.Arg1731Gly)
c.4843C>G (p.Arg1615Gly)
c.4468C>G (p.Arg1490Gly)
c.5275C>G (p.Arg1759Gly)
c.5377C>G (p.Arg1793Gly)
c.5320C>G (p.Arg1774Gly)
c.5296C>G (p.Arg1766Gly)
c.5251C>G (p.Arg1751Gly)
3g.53801142C>TCA2455082CACNA1Dc.5185C>T (p.Arg1729Cys)
n.2194-70C>T
n.560C>T
c.5125C>T (p.Arg1709Cys)
c.5080C>T (p.Arg1694Cys)
c.1316-70C>T
n.481C>T
n.552C>T
c.5152C>T (p.Arg1718Cys)
c.4204C>T (p.Arg1402Cys)
c.5380C>T (p.Arg1794Cys)
c.5269C>T (p.Arg1757Cys)
c.5191C>T (p.Arg1731Cys)
c.4843C>T (p.Arg1615Cys)
c.4468C>T (p.Arg1490Cys)
c.5275C>T (p.Arg1759Cys)
c.5377C>T (p.Arg1793Cys)
c.5320C>T (p.Arg1774Cys)
c.5296C>T (p.Arg1766Cys)
c.5251C>T (p.Arg1751Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.53801143G>ACA2455083CACNA1Dc.5186G>A (p.Arg1729His)
n.2194-69G>A
n.561G>A
c.5126G>A (p.Arg1709His)
c.5081G>A (p.Arg1694His)
c.1316-69G>A
n.482G>A
n.553G>A
c.5153G>A (p.Arg1718His)
c.4205G>A (p.Arg1402His)
c.5381G>A (p.Arg1794His)
c.5270G>A (p.Arg1757His)
c.5192G>A (p.Arg1731His)
c.4844G>A (p.Arg1615His)
c.4469G>A (p.Arg1490His)
c.5276G>A (p.Arg1759His)
c.5378G>A (p.Arg1793His)
c.5321G>A (p.Arg1774His)
c.5297G>A (p.Arg1766His)
c.5252G>A (p.Arg1751His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.53801143G>CCA353250009CACNA1Dc.5186G>C (p.Arg1729Pro)
n.2194-69G>C
n.561G>C
c.5126G>C (p.Arg1709Pro)
c.5081G>C (p.Arg1694Pro)
c.1316-69G>C
n.482G>C
n.553G>C
c.5153G>C (p.Arg1718Pro)
c.4205G>C (p.Arg1402Pro)
c.5381G>C (p.Arg1794Pro)
c.5270G>C (p.Arg1757Pro)
c.5192G>C (p.Arg1731Pro)
c.4844G>C (p.Arg1615Pro)
c.4469G>C (p.Arg1490Pro)
c.5276G>C (p.Arg1759Pro)
c.5378G>C (p.Arg1793Pro)
c.5321G>C (p.Arg1774Pro)
c.5297G>C (p.Arg1766Pro)
c.5252G>C (p.Arg1751Pro)
3g.53801143G=CA1365484155CACNA1Dc.5186G= (p.Arg1729=)
n.2194-69G=
n.561G=
c.5126G= (p.Arg1709=)
c.5081G= (p.Arg1694=)
c.1316-69G=
n.482G=
n.553G=
c.5153G= (p.Arg1718=)
c.4205G= (p.Arg1402=)
c.5381G= (p.Arg1794=)
c.5270G= (p.Arg1757=)
c.5192G= (p.Arg1731=)
c.4844G= (p.Arg1615=)
c.4469G= (p.Arg1490=)
c.5276G= (p.Arg1759=)
c.5378G= (p.Arg1793=)
c.5321G= (p.Arg1774=)
c.5297G= (p.Arg1766=)
c.5252G= (p.Arg1751=)
3g.53801143G>TCA353250010CACNA1Dc.5186G>T (p.Arg1729Leu)
n.2194-69G>T
n.561G>T
c.5126G>T (p.Arg1709Leu)
c.5081G>T (p.Arg1694Leu)
c.1316-69G>T
n.482G>T
n.553G>T
c.5153G>T (p.Arg1718Leu)
c.4205G>T (p.Arg1402Leu)
c.5381G>T (p.Arg1794Leu)
c.5270G>T (p.Arg1757Leu)
c.5192G>T (p.Arg1731Leu)
c.4844G>T (p.Arg1615Leu)
c.4469G>T (p.Arg1490Leu)
c.5276G>T (p.Arg1759Leu)
c.5378G>T (p.Arg1793Leu)
c.5321G>T (p.Arg1774Leu)
c.5297G>T (p.Arg1766Leu)
c.5252G>T (p.Arg1751Leu)
3g.53801144T>ACA433895872CACNA1Dc.5187T>A (p.Arg1729=)
n.2194-68T>A
n.562T>A
c.5127T>A (p.Arg1709=)
c.5082T>A (p.Arg1694=)
c.1316-68T>A
n.483T>A
n.554T>A
c.5154T>A (p.Arg1718=)
c.4206T>A (p.Arg1402=)
c.5382T>A (p.Arg1794=)
c.5271T>A (p.Arg1757=)
c.5193T>A (p.Arg1731=)
c.4845T>A (p.Arg1615=)
c.4470T>A (p.Arg1490=)
c.5277T>A (p.Arg1759=)
c.5379T>A (p.Arg1793=)
c.5322T>A (p.Arg1774=)
c.5298T>A (p.Arg1766=)
c.5253T>A (p.Arg1751=)
3g.53801144T>CCA433895874CACNA1Dc.5187T>C (p.Arg1729=)
n.2194-68T>C
n.562T>C
c.5127T>C (p.Arg1709=)
c.5082T>C (p.Arg1694=)
c.1316-68T>C
n.483T>C
n.554T>C
c.5154T>C (p.Arg1718=)
c.4206T>C (p.Arg1402=)
c.5382T>C (p.Arg1794=)
c.5271T>C (p.Arg1757=)
c.5193T>C (p.Arg1731=)
c.4845T>C (p.Arg1615=)
c.4470T>C (p.Arg1490=)
c.5277T>C (p.Arg1759=)
c.5379T>C (p.Arg1793=)
c.5322T>C (p.Arg1774=)
c.5298T>C (p.Arg1766=)
c.5253T>C (p.Arg1751=)
 ClinVar
3g.53801144T>GCA433895873CACNA1Dc.5187T>G (p.Arg1729=)
n.2194-68T>G
n.562T>G
c.5127T>G (p.Arg1709=)
c.5082T>G (p.Arg1694=)
c.1316-68T>G
n.483T>G
n.554T>G
c.5154T>G (p.Arg1718=)
c.4206T>G (p.Arg1402=)
c.5382T>G (p.Arg1794=)
c.5271T>G (p.Arg1757=)
c.5193T>G (p.Arg1731=)
c.4845T>G (p.Arg1615=)
c.4470T>G (p.Arg1490=)
c.5277T>G (p.Arg1759=)
c.5379T>G (p.Arg1793=)
c.5322T>G (p.Arg1774=)
c.5298T>G (p.Arg1766=)
c.5253T>G (p.Arg1751=)
3g.53801145C>ACA353250012CACNA1Dc.5188C>A (p.Pro1730Thr)
n.2194-67C>A
n.563C>A
c.5128C>A (p.Pro1710Thr)
c.5083C>A (p.Pro1695Thr)
c.1316-67C>A
n.484C>A
n.555C>A
c.5155C>A (p.Pro1719Thr)
c.4207C>A (p.Pro1403Thr)
c.5383C>A (p.Pro1795Thr)
c.5272C>A (p.Pro1758Thr)
c.5194C>A (p.Pro1732Thr)
c.4846C>A (p.Pro1616Thr)
c.4471C>A (p.Pro1491Thr)
c.5278C>A (p.Pro1760Thr)
c.5380C>A (p.Pro1794Thr)
c.5323C>A (p.Pro1775Thr)
c.5299C>A (p.Pro1767Thr)
c.5254C>A (p.Pro1752Thr)
3g.53801145C>GCA353250015CACNA1Dc.5188C>G (p.Pro1730Ala)
n.2194-67C>G
n.563C>G
c.5128C>G (p.Pro1710Ala)
c.5083C>G (p.Pro1695Ala)
c.1316-67C>G
n.484C>G
n.555C>G
c.5155C>G (p.Pro1719Ala)
c.4207C>G (p.Pro1403Ala)
c.5383C>G (p.Pro1795Ala)
c.5272C>G (p.Pro1758Ala)
c.5194C>G (p.Pro1732Ala)
c.4846C>G (p.Pro1616Ala)
c.4471C>G (p.Pro1491Ala)
c.5278C>G (p.Pro1760Ala)
c.5380C>G (p.Pro1794Ala)
c.5323C>G (p.Pro1775Ala)
c.5299C>G (p.Pro1767Ala)
c.5254C>G (p.Pro1752Ala)
3g.53801145C>TCA353250017CACNA1Dc.5188C>T (p.Pro1730Ser)
n.2194-67C>T
n.563C>T
c.5128C>T (p.Pro1710Ser)
c.5083C>T (p.Pro1695Ser)
c.1316-67C>T
n.484C>T
n.555C>T
c.5155C>T (p.Pro1719Ser)
c.4207C>T (p.Pro1403Ser)
c.5383C>T (p.Pro1795Ser)
c.5272C>T (p.Pro1758Ser)
c.5194C>T (p.Pro1732Ser)
c.4846C>T (p.Pro1616Ser)
c.4471C>T (p.Pro1491Ser)
c.5278C>T (p.Pro1760Ser)
c.5380C>T (p.Pro1794Ser)
c.5323C>T (p.Pro1775Ser)
c.5299C>T (p.Pro1767Ser)
c.5254C>T (p.Pro1752Ser)
3g.53801146C>ACA353250020CACNA1Dc.5189C>A (p.Pro1730His)
n.2194-66C>A
n.564C>A
c.5129C>A (p.Pro1710His)
c.5084C>A (p.Pro1695His)
c.1316-66C>A
n.485C>A
n.556C>A
c.5156C>A (p.Pro1719His)
c.4208C>A (p.Pro1403His)
c.5384C>A (p.Pro1795His)
c.5273C>A (p.Pro1758His)
c.5195C>A (p.Pro1732His)
c.4847C>A (p.Pro1616His)
c.4472C>A (p.Pro1491His)
c.5279C>A (p.Pro1760His)
c.5381C>A (p.Pro1794His)
c.5324C>A (p.Pro1775His)
c.5300C>A (p.Pro1767His)
c.5255C>A (p.Pro1752His)
3g.53801146C>GCA353250022CACNA1Dc.5189C>G (p.Pro1730Arg)
n.2194-66C>G
n.564C>G
c.5129C>G (p.Pro1710Arg)
c.5084C>G (p.Pro1695Arg)
c.1316-66C>G
n.485C>G
n.556C>G
c.5156C>G (p.Pro1719Arg)
c.4208C>G (p.Pro1403Arg)
c.5384C>G (p.Pro1795Arg)
c.5273C>G (p.Pro1758Arg)
c.5195C>G (p.Pro1732Arg)
c.4847C>G (p.Pro1616Arg)
c.4472C>G (p.Pro1491Arg)
c.5279C>G (p.Pro1760Arg)
c.5381C>G (p.Pro1794Arg)
c.5324C>G (p.Pro1775Arg)
c.5300C>G (p.Pro1767Arg)
c.5255C>G (p.Pro1752Arg)
3g.53801146C>TCA353250024CACNA1Dc.5189C>T (p.Pro1730Leu)
n.2194-66C>T
n.564C>T
c.5129C>T (p.Pro1710Leu)
c.5084C>T (p.Pro1695Leu)
c.1316-66C>T
n.485C>T
n.556C>T
c.5156C>T (p.Pro1719Leu)
c.4208C>T (p.Pro1403Leu)
c.5384C>T (p.Pro1795Leu)
c.5273C>T (p.Pro1758Leu)
c.5195C>T (p.Pro1732Leu)
c.4847C>T (p.Pro1616Leu)
c.4472C>T (p.Pro1491Leu)
c.5279C>T (p.Pro1760Leu)
c.5381C>T (p.Pro1794Leu)
c.5324C>T (p.Pro1775Leu)
c.5300C>T (p.Pro1767Leu)
c.5255C>T (p.Pro1752Leu)
 COSMIC COSMIC
3g.53801147C>ACA433895877CACNA1Dc.5190C>A (p.Pro1730=)
n.2194-65C>A
n.565C>A
c.5130C>A (p.Pro1710=)
c.5085C>A (p.Pro1695=)
c.1316-65C>A
n.486C>A
n.557C>A
c.5157C>A (p.Pro1719=)
c.4209C>A (p.Pro1403=)
c.5385C>A (p.Pro1795=)
c.5274C>A (p.Pro1758=)
c.5196C>A (p.Pro1732=)
c.4848C>A (p.Pro1616=)
c.4473C>A (p.Pro1491=)
c.5280C>A (p.Pro1760=)
c.5382C>A (p.Pro1794=)
c.5325C>A (p.Pro1775=)
c.5301C>A (p.Pro1767=)
c.5256C>A (p.Pro1752=)
3g.53801147C>GCA433895879CACNA1Dc.5190C>G (p.Pro1730=)
n.2194-65C>G
n.565C>G
c.5130C>G (p.Pro1710=)
c.5085C>G (p.Pro1695=)
c.1316-65C>G
n.486C>G
n.557C>G
c.5157C>G (p.Pro1719=)
c.4209C>G (p.Pro1403=)
c.5385C>G (p.Pro1795=)
c.5274C>G (p.Pro1758=)
c.5196C>G (p.Pro1732=)
c.4848C>G (p.Pro1616=)
c.4473C>G (p.Pro1491=)
c.5280C>G (p.Pro1760=)
c.5382C>G (p.Pro1794=)
c.5325C>G (p.Pro1775=)
c.5301C>G (p.Pro1767=)
c.5256C>G (p.Pro1752=)
3g.53801147C>TCA433895880CACNA1Dc.5190C>T (p.Pro1730=)
n.2194-65C>T
n.565C>T
c.5130C>T (p.Pro1710=)
c.5085C>T (p.Pro1695=)
c.1316-65C>T
n.486C>T
n.557C>T
c.5157C>T (p.Pro1719=)
c.4209C>T (p.Pro1403=)
c.5385C>T (p.Pro1795=)
c.5274C>T (p.Pro1758=)
c.5196C>T (p.Pro1732=)
c.4848C>T (p.Pro1616=)
c.4473C>T (p.Pro1491=)
c.5280C>T (p.Pro1760=)
c.5382C>T (p.Pro1794=)
c.5325C>T (p.Pro1775=)
c.5301C>T (p.Pro1767=)
c.5256C>T (p.Pro1752=)
3g.53801148C>ACA353250028CACNA1Dc.5191C>A (p.Leu1731Met)
n.2194-64C>A
n.566C>A
c.5131C>A (p.Leu1711Met)
c.5086C>A (p.Leu1696Met)
c.1316-64C>A
n.487C>A
n.558C>A
c.5158C>A (p.Leu1720Met)
c.4210C>A (p.Leu1404Met)
c.5386C>A (p.Leu1796Met)
c.5275C>A (p.Leu1759Met)
c.5197C>A (p.Leu1733Met)
c.4849C>A (p.Leu1617Met)
c.4474C>A (p.Leu1492Met)
c.5281C>A (p.Leu1761Met)
c.5383C>A (p.Leu1795Met)
c.5326C>A (p.Leu1776Met)
c.5302C>A (p.Leu1768Met)
c.5257C>A (p.Leu1753Met)
3g.53801148C>GCA353250026CACNA1Dc.5191C>G (p.Leu1731Val)
n.2194-64C>G
n.566C>G
c.5131C>G (p.Leu1711Val)
c.5086C>G (p.Leu1696Val)
c.1316-64C>G
n.487C>G
n.558C>G
c.5158C>G (p.Leu1720Val)
c.4210C>G (p.Leu1404Val)
c.5386C>G (p.Leu1796Val)
c.5275C>G (p.Leu1759Val)
c.5197C>G (p.Leu1733Val)
c.4849C>G (p.Leu1617Val)
c.4474C>G (p.Leu1492Val)
c.5281C>G (p.Leu1761Val)
c.5383C>G (p.Leu1795Val)
c.5326C>G (p.Leu1776Val)
c.5302C>G (p.Leu1768Val)
c.5257C>G (p.Leu1753Val)
 gnomAD v4
3g.53801148C>TCA433895881CACNA1Dc.5191C>T (p.Leu1731=)
n.2194-64C>T
n.566C>T
c.5131C>T (p.Leu1711=)
c.5086C>T (p.Leu1696=)
c.1316-64C>T
n.487C>T
n.558C>T
c.5158C>T (p.Leu1720=)
c.4210C>T (p.Leu1404=)
c.5386C>T (p.Leu1796=)
c.5275C>T (p.Leu1759=)
c.5197C>T (p.Leu1733=)
c.4849C>T (p.Leu1617=)
c.4474C>T (p.Leu1492=)
c.5281C>T (p.Leu1761=)
c.5383C>T (p.Leu1795=)
c.5326C>T (p.Leu1776=)
c.5302C>T (p.Leu1768=)
c.5257C>T (p.Leu1753=)
 gnomAD v4
3g.53801149T>ACA353250030CACNA1Dc.5192T>A (p.Leu1731Gln)
n.2194-63T>A
n.567T>A
c.5132T>A (p.Leu1711Gln)
c.5087T>A (p.Leu1696Gln)
c.1316-63T>A
n.488T>A
n.559T>A
c.5159T>A (p.Leu1720Gln)
c.4211T>A (p.Leu1404Gln)
c.5387T>A (p.Leu1796Gln)
c.5276T>A (p.Leu1759Gln)
c.5198T>A (p.Leu1733Gln)
c.4850T>A (p.Leu1617Gln)
c.4475T>A (p.Leu1492Gln)
c.5282T>A (p.Leu1761Gln)
c.5384T>A (p.Leu1795Gln)
c.5327T>A (p.Leu1776Gln)
c.5303T>A (p.Leu1768Gln)
c.5258T>A (p.Leu1753Gln)
3g.53801149T>CCA353250031CACNA1Dc.5192T>C (p.Leu1731Pro)
n.2194-63T>C
n.567T>C
c.5132T>C (p.Leu1711Pro)
c.5087T>C (p.Leu1696Pro)
c.1316-63T>C
n.488T>C
n.559T>C
c.5159T>C (p.Leu1720Pro)
c.4211T>C (p.Leu1404Pro)
c.5387T>C (p.Leu1796Pro)
c.5276T>C (p.Leu1759Pro)
c.5198T>C (p.Leu1733Pro)
c.4850T>C (p.Leu1617Pro)
c.4475T>C (p.Leu1492Pro)
c.5282T>C (p.Leu1761Pro)
c.5384T>C (p.Leu1795Pro)
c.5327T>C (p.Leu1776Pro)
c.5303T>C (p.Leu1768Pro)
c.5258T>C (p.Leu1753Pro)
3g.53801149T>GCA353250033CACNA1Dc.5192T>G (p.Leu1731Arg)
n.2194-63T>G
n.567T>G
c.5132T>G (p.Leu1711Arg)
c.5087T>G (p.Leu1696Arg)
c.1316-63T>G
n.488T>G
n.559T>G
c.5159T>G (p.Leu1720Arg)
c.4211T>G (p.Leu1404Arg)
c.5387T>G (p.Leu1796Arg)
c.5276T>G (p.Leu1759Arg)
c.5198T>G (p.Leu1733Arg)
c.4850T>G (p.Leu1617Arg)
c.4475T>G (p.Leu1492Arg)
c.5282T>G (p.Leu1761Arg)
c.5384T>G (p.Leu1795Arg)
c.5327T>G (p.Leu1776Arg)
c.5303T>G (p.Leu1768Arg)
c.5258T>G (p.Leu1753Arg)
3g.53801150G>ACA433895883CACNA1Dc.5193G>A (p.Leu1731=)
n.2194-62G>A
n.568G>A
c.5133G>A (p.Leu1711=)
c.5088G>A (p.Leu1696=)
c.1316-62G>A
n.489G>A
n.560G>A
c.5160G>A (p.Leu1720=)
c.4212G>A (p.Leu1404=)
c.5388G>A (p.Leu1796=)
c.5277G>A (p.Leu1759=)
c.5199G>A (p.Leu1733=)
c.4851G>A (p.Leu1617=)
c.4476G>A (p.Leu1492=)
c.5283G>A (p.Leu1761=)
c.5385G>A (p.Leu1795=)
c.5328G>A (p.Leu1776=)
c.5304G>A (p.Leu1768=)
c.5259G>A (p.Leu1753=)
 COSMIC
3g.53801150G>CCA433895885CACNA1Dc.5193G>C (p.Leu1731=)
n.2194-62G>C
n.568G>C
c.5133G>C (p.Leu1711=)
c.5088G>C (p.Leu1696=)
c.1316-62G>C
n.489G>C
n.560G>C
c.5160G>C (p.Leu1720=)
c.4212G>C (p.Leu1404=)
c.5388G>C (p.Leu1796=)
c.5277G>C (p.Leu1759=)
c.5199G>C (p.Leu1733=)
c.4851G>C (p.Leu1617=)
c.4476G>C (p.Leu1492=)
c.5283G>C (p.Leu1761=)
c.5385G>C (p.Leu1795=)
c.5328G>C (p.Leu1776=)
c.5304G>C (p.Leu1768=)
c.5259G>C (p.Leu1753=)
3g.53801150G>TCA433895887CACNA1Dc.5193G>T (p.Leu1731=)
n.2194-62G>T
n.568G>T
c.5133G>T (p.Leu1711=)
c.5088G>T (p.Leu1696=)
c.1316-62G>T
n.489G>T
n.560G>T
c.5160G>T (p.Leu1720=)
c.4212G>T (p.Leu1404=)
c.5388G>T (p.Leu1796=)
c.5277G>T (p.Leu1759=)
c.5199G>T (p.Leu1733=)
c.4851G>T (p.Leu1617=)
c.4476G>T (p.Leu1492=)
c.5283G>T (p.Leu1761=)
c.5385G>T (p.Leu1795=)
c.5328G>T (p.Leu1776=)
c.5304G>T (p.Leu1768=)
c.5259G>T (p.Leu1753=)
3g.53801151C>ACA353250034CACNA1Dc.5194C>A (p.His1732Asn)
n.2194-61C>A
n.569C>A
c.5134C>A (p.His1712Asn)
c.5089C>A (p.His1697Asn)
c.1316-61C>A
n.490C>A
n.561C>A
c.5161C>A (p.His1721Asn)
c.4213C>A (p.His1405Asn)
c.5389C>A (p.His1797Asn)
c.5278C>A (p.His1760Asn)
c.5200C>A (p.His1734Asn)
c.4852C>A (p.His1618Asn)
c.4477C>A (p.His1493Asn)
c.5284C>A (p.His1762Asn)
c.5386C>A (p.His1796Asn)
c.5329C>A (p.His1777Asn)
c.5305C>A (p.His1769Asn)
c.5260C>A (p.His1754Asn)
3g.53801151C>GCA353250036CACNA1Dc.5194C>G (p.His1732Asp)
n.2194-61C>G
n.569C>G
c.5134C>G (p.His1712Asp)
c.5089C>G (p.His1697Asp)
c.1316-61C>G
n.490C>G
n.561C>G
c.5161C>G (p.His1721Asp)
c.4213C>G (p.His1405Asp)
c.5389C>G (p.His1797Asp)
c.5278C>G (p.His1760Asp)
c.5200C>G (p.His1734Asp)
c.4852C>G (p.His1618Asp)
c.4477C>G (p.His1493Asp)
c.5284C>G (p.His1762Asp)
c.5386C>G (p.His1796Asp)
c.5329C>G (p.His1777Asp)
c.5305C>G (p.His1769Asp)
c.5260C>G (p.His1754Asp)
3g.53801151C>TCA353250039CACNA1Dc.5194C>T (p.His1732Tyr)
n.2194-61C>T
n.569C>T
c.5134C>T (p.His1712Tyr)
c.5089C>T (p.His1697Tyr)
c.1316-61C>T
n.490C>T
n.561C>T
c.5161C>T (p.His1721Tyr)
c.4213C>T (p.His1405Tyr)
c.5389C>T (p.His1797Tyr)
c.5278C>T (p.His1760Tyr)
c.5200C>T (p.His1734Tyr)
c.4852C>T (p.His1618Tyr)
c.4477C>T (p.His1493Tyr)
c.5284C>T (p.His1762Tyr)
c.5386C>T (p.His1796Tyr)
c.5329C>T (p.His1777Tyr)
c.5305C>T (p.His1769Tyr)
c.5260C>T (p.His1754Tyr)
 gnomAD v4
3g.53801152A>CCA353250051CACNA1Dc.5195A>C (p.His1732Pro)
n.2194-60A>C
n.570A>C
c.5135A>C (p.His1712Pro)
c.5090A>C (p.His1697Pro)
c.1316-60A>C
n.491A>C
n.562A>C
c.5162A>C (p.His1721Pro)
c.4214A>C (p.His1405Pro)
c.5390A>C (p.His1797Pro)
c.5279A>C (p.His1760Pro)
c.5201A>C (p.His1734Pro)
c.4853A>C (p.His1618Pro)
c.4478A>C (p.His1493Pro)
c.5285A>C (p.His1762Pro)
c.5387A>C (p.His1796Pro)
c.5330A>C (p.His1777Pro)
c.5306A>C (p.His1769Pro)
c.5261A>C (p.His1754Pro)
3g.53801152A>GCA353250042CACNA1Dc.5195A>G (p.His1732Arg)
n.2194-60A>G
n.570A>G
c.5135A>G (p.His1712Arg)
c.5090A>G (p.His1697Arg)
c.1316-60A>G
n.491A>G
n.562A>G
c.5162A>G (p.His1721Arg)
c.4214A>G (p.His1405Arg)
c.5390A>G (p.His1797Arg)
c.5279A>G (p.His1760Arg)
c.5201A>G (p.His1734Arg)
c.4853A>G (p.His1618Arg)
c.4478A>G (p.His1493Arg)
c.5285A>G (p.His1762Arg)
c.5387A>G (p.His1796Arg)
c.5330A>G (p.His1777Arg)
c.5306A>G (p.His1769Arg)
c.5261A>G (p.His1754Arg)
 ClinVar gnomAD v4
3g.53801152A>TCA353250050CACNA1Dc.5195A>T (p.His1732Leu)
n.2194-60A>T
n.570A>T
c.5135A>T (p.His1712Leu)
c.5090A>T (p.His1697Leu)
c.1316-60A>T
n.491A>T
n.562A>T
c.5162A>T (p.His1721Leu)
c.4214A>T (p.His1405Leu)
c.5390A>T (p.His1797Leu)
c.5279A>T (p.His1760Leu)
c.5201A>T (p.His1734Leu)
c.4853A>T (p.His1618Leu)
c.4478A>T (p.His1493Leu)
c.5285A>T (p.His1762Leu)
c.5387A>T (p.His1796Leu)
c.5330A>T (p.His1777Leu)
c.5306A>T (p.His1769Leu)
c.5261A>T (p.His1754Leu)
3g.53801153T>ACA353250052CACNA1Dc.5196T>A (p.His1732Gln)
n.2194-59T>A
n.571T>A
c.5136T>A (p.His1712Gln)
c.5091T>A (p.His1697Gln)
c.1316-59T>A
n.492T>A
n.563T>A
c.5163T>A (p.His1721Gln)
c.4215T>A (p.His1405Gln)
c.5391T>A (p.His1797Gln)
c.5280T>A (p.His1760Gln)
c.5202T>A (p.His1734Gln)
c.4854T>A (p.His1618Gln)
c.4479T>A (p.His1493Gln)
c.5286T>A (p.His1762Gln)
c.5388T>A (p.His1796Gln)
c.5331T>A (p.His1777Gln)
c.5307T>A (p.His1769Gln)
c.5262T>A (p.His1754Gln)
3g.53801153T>CCA433895891CACNA1Dc.5196T>C (p.His1732=)
n.2194-59T>C
n.571T>C
c.5136T>C (p.His1712=)
c.5091T>C (p.His1697=)
c.1316-59T>C
n.492T>C
n.563T>C
c.5163T>C (p.His1721=)
c.4215T>C (p.His1405=)
c.5391T>C (p.His1797=)
c.5280T>C (p.His1760=)
c.5202T>C (p.His1734=)
c.4854T>C (p.His1618=)
c.4479T>C (p.His1493=)
c.5286T>C (p.His1762=)
c.5388T>C (p.His1796=)
c.5331T>C (p.His1777=)
c.5307T>C (p.His1769=)
c.5262T>C (p.His1754=)
3g.53801153T>GCA353250054CACNA1Dc.5196T>G (p.His1732Gln)
n.2194-59T>G
n.571T>G
c.5136T>G (p.His1712Gln)
c.5091T>G (p.His1697Gln)
c.1316-59T>G
n.492T>G
n.563T>G
c.5163T>G (p.His1721Gln)
c.4215T>G (p.His1405Gln)
c.5391T>G (p.His1797Gln)
c.5280T>G (p.His1760Gln)
c.5202T>G (p.His1734Gln)
c.4854T>G (p.His1618Gln)
c.4479T>G (p.His1493Gln)
c.5286T>G (p.His1762Gln)
c.5388T>G (p.His1796Gln)
c.5331T>G (p.His1777Gln)
c.5307T>G (p.His1769Gln)
c.5262T>G (p.His1754Gln)
3g.53801154G>ACA353250058CACNA1Dc.5197G>A (p.Val1733Ile)
n.2194-58G>A
n.572G>A
c.5137G>A (p.Val1713Ile)
c.5092G>A (p.Val1698Ile)
c.1316-58G>A
n.493G>A
n.564G>A
c.5164G>A (p.Val1722Ile)
c.4216G>A (p.Val1406Ile)
c.5392G>A (p.Val1798Ile)
c.5281G>A (p.Val1761Ile)
c.5203G>A (p.Val1735Ile)
c.4855G>A (p.Val1619Ile)
c.4480G>A (p.Val1494Ile)
c.5287G>A (p.Val1763Ile)
c.5389G>A (p.Val1797Ile)
c.5332G>A (p.Val1778Ile)
c.5308G>A (p.Val1770Ile)
c.5263G>A (p.Val1755Ile)
3g.53801154G>CCA353250060CACNA1Dc.5197G>C (p.Val1733Leu)
n.2194-58G>C
n.572G>C
c.5137G>C (p.Val1713Leu)
c.5092G>C (p.Val1698Leu)
c.1316-58G>C
n.493G>C
n.564G>C
c.5164G>C (p.Val1722Leu)
c.4216G>C (p.Val1406Leu)
c.5392G>C (p.Val1798Leu)
c.5281G>C (p.Val1761Leu)
c.5203G>C (p.Val1735Leu)
c.4855G>C (p.Val1619Leu)
c.4480G>C (p.Val1494Leu)
c.5287G>C (p.Val1763Leu)
c.5389G>C (p.Val1797Leu)
c.5332G>C (p.Val1778Leu)
c.5308G>C (p.Val1770Leu)
c.5263G>C (p.Val1755Leu)
3g.53801154G>TCA353250062CACNA1Dc.5197G>T (p.Val1733Phe)
n.2194-58G>T
n.572G>T
c.5137G>T (p.Val1713Phe)
c.5092G>T (p.Val1698Phe)
c.1316-58G>T
n.493G>T
n.564G>T
c.5164G>T (p.Val1722Phe)
c.4216G>T (p.Val1406Phe)
c.5392G>T (p.Val1798Phe)
c.5281G>T (p.Val1761Phe)
c.5203G>T (p.Val1735Phe)
c.4855G>T (p.Val1619Phe)
c.4480G>T (p.Val1494Phe)
c.5287G>T (p.Val1763Phe)
c.5389G>T (p.Val1797Phe)
c.5332G>T (p.Val1778Phe)
c.5308G>T (p.Val1770Phe)
c.5263G>T (p.Val1755Phe)
3g.53801155T>ACA353250064CACNA1Dc.5198T>A (p.Val1733Asp)
n.2194-57T>A
n.573T>A
c.5138T>A (p.Val1713Asp)
c.5093T>A (p.Val1698Asp)
c.1316-57T>A
n.494T>A
n.565T>A
c.5165T>A (p.Val1722Asp)
c.4217T>A (p.Val1406Asp)
c.5393T>A (p.Val1798Asp)
c.5282T>A (p.Val1761Asp)
c.5204T>A (p.Val1735Asp)
c.4856T>A (p.Val1619Asp)
c.4481T>A (p.Val1494Asp)
c.5288T>A (p.Val1763Asp)
c.5390T>A (p.Val1797Asp)
c.5333T>A (p.Val1778Asp)
c.5309T>A (p.Val1770Asp)
c.5264T>A (p.Val1755Asp)
3g.53801155T>CCA353250068CACNA1Dc.5198T>C (p.Val1733Ala)
n.2194-57T>C
n.573T>C
c.5138T>C (p.Val1713Ala)
c.5093T>C (p.Val1698Ala)
c.1316-57T>C
n.494T>C
n.565T>C
c.5165T>C (p.Val1722Ala)
c.4217T>C (p.Val1406Ala)
c.5393T>C (p.Val1798Ala)
c.5282T>C (p.Val1761Ala)
c.5204T>C (p.Val1735Ala)
c.4856T>C (p.Val1619Ala)
c.4481T>C (p.Val1494Ala)
c.5288T>C (p.Val1763Ala)
c.5390T>C (p.Val1797Ala)
c.5333T>C (p.Val1778Ala)
c.5309T>C (p.Val1770Ala)
c.5264T>C (p.Val1755Ala)
3g.53801155T>GCA353250067CACNA1Dc.5198T>G (p.Val1733Gly)
n.2194-57T>G
n.573T>G
c.5138T>G (p.Val1713Gly)
c.5093T>G (p.Val1698Gly)
c.1316-57T>G
n.494T>G
n.565T>G
c.5165T>G (p.Val1722Gly)
c.4217T>G (p.Val1406Gly)
c.5393T>G (p.Val1798Gly)
c.5282T>G (p.Val1761Gly)
c.5204T>G (p.Val1735Gly)
c.4856T>G (p.Val1619Gly)
c.4481T>G (p.Val1494Gly)
c.5288T>G (p.Val1763Gly)
c.5390T>G (p.Val1797Gly)
c.5333T>G (p.Val1778Gly)
c.5309T>G (p.Val1770Gly)
c.5264T>G (p.Val1755Gly)
3g.53801156C>ACA433895899CACNA1Dc.5199C>A (p.Val1733=)
n.2194-56C>A
n.574C>A
c.5139C>A (p.Val1713=)
c.5094C>A (p.Val1698=)
c.1316-56C>A
n.495C>A
n.566C>A
c.5166C>A (p.Val1722=)
c.4218C>A (p.Val1406=)
c.5394C>A (p.Val1798=)
c.5283C>A (p.Val1761=)
c.5205C>A (p.Val1735=)
c.4857C>A (p.Val1619=)
c.4482C>A (p.Val1494=)
c.5289C>A (p.Val1763=)
c.5391C>A (p.Val1797=)
c.5334C>A (p.Val1778=)
c.5310C>A (p.Val1770=)
c.5265C>A (p.Val1755=)
3g.53801156C>GCA433895900CACNA1Dc.5199C>G (p.Val1733=)
n.2194-56C>G
n.574C>G
c.5139C>G (p.Val1713=)
c.5094C>G (p.Val1698=)
c.1316-56C>G
n.495C>G
n.566C>G
c.5166C>G (p.Val1722=)
c.4218C>G (p.Val1406=)
c.5394C>G (p.Val1798=)
c.5283C>G (p.Val1761=)
c.5205C>G (p.Val1735=)
c.4857C>G (p.Val1619=)
c.4482C>G (p.Val1494=)
c.5289C>G (p.Val1763=)
c.5391C>G (p.Val1797=)
c.5334C>G (p.Val1778=)
c.5310C>G (p.Val1770=)
c.5265C>G (p.Val1755=)
3g.53801156C>TCA433895901CACNA1Dc.5199C>T (p.Val1733=)
n.2194-56C>T
n.574C>T
c.5139C>T (p.Val1713=)
c.5094C>T (p.Val1698=)
c.1316-56C>T
n.495C>T
n.566C>T
c.5166C>T (p.Val1722=)
c.4218C>T (p.Val1406=)
c.5394C>T (p.Val1798=)
c.5283C>T (p.Val1761=)
c.5205C>T (p.Val1735=)
c.4857C>T (p.Val1619=)
c.4482C>T (p.Val1494=)
c.5289C>T (p.Val1763=)
c.5391C>T (p.Val1797=)
c.5334C>T (p.Val1778=)
c.5310C>T (p.Val1770=)
c.5265C>T (p.Val1755=)
 ClinVar dbSNP
3g.53801157C>ACA353250070CACNA1Dc.5200C>A (p.Gln1734Lys)
n.2194-55C>A
n.575C>A
c.5140C>A (p.Gln1714Lys)
c.5095C>A (p.Gln1699Lys)
c.1316-55C>A
n.496C>A
n.567C>A
c.5167C>A (p.Gln1723Lys)
c.4219C>A (p.Gln1407Lys)
c.5395C>A (p.Gln1799Lys)
c.5284C>A (p.Gln1762Lys)
c.5206C>A (p.Gln1736Lys)
c.4858C>A (p.Gln1620Lys)
c.4483C>A (p.Gln1495Lys)
c.5290C>A (p.Gln1764Lys)
c.5392C>A (p.Gln1798Lys)
c.5335C>A (p.Gln1779Lys)
c.5311C>A (p.Gln1771Lys)
c.5266C>A (p.Gln1756Lys)
3g.53801157C>GCA353250073CACNA1Dc.5200C>G (p.Gln1734Glu)
n.2194-55C>G
n.575C>G
c.5140C>G (p.Gln1714Glu)
c.5095C>G (p.Gln1699Glu)
c.1316-55C>G
n.496C>G
n.567C>G
c.5167C>G (p.Gln1723Glu)
c.4219C>G (p.Gln1407Glu)
c.5395C>G (p.Gln1799Glu)
c.5284C>G (p.Gln1762Glu)
c.5206C>G (p.Gln1736Glu)
c.4858C>G (p.Gln1620Glu)
c.4483C>G (p.Gln1495Glu)
c.5290C>G (p.Gln1764Glu)
c.5392C>G (p.Gln1798Glu)
c.5335C>G (p.Gln1779Glu)
c.5311C>G (p.Gln1771Glu)
c.5266C>G (p.Gln1756Glu)
3g.53801157C>TCA353250075CACNA1Dc.5200C>T (p.Gln1734Ter)
n.2194-55C>T
n.575C>T
c.5140C>T (p.Gln1714Ter)
c.5095C>T (p.Gln1699Ter)
c.1316-55C>T
n.496C>T
n.567C>T
c.5167C>T (p.Gln1723Ter)
c.4219C>T (p.Gln1407Ter)
c.5395C>T (p.Gln1799Ter)
c.5284C>T (p.Gln1762Ter)
c.5206C>T (p.Gln1736Ter)
c.4858C>T (p.Gln1620Ter)
c.4483C>T (p.Gln1495Ter)
c.5290C>T (p.Gln1764Ter)
c.5392C>T (p.Gln1798Ter)
c.5335C>T (p.Gln1779Ter)
c.5311C>T (p.Gln1771Ter)
c.5266C>T (p.Gln1756Ter)
3g.53801158A>CCA353250077CACNA1Dc.5201A>C (p.Gln1734Pro)
n.2194-54A>C
n.576A>C
c.5141A>C (p.Gln1714Pro)
c.5096A>C (p.Gln1699Pro)
c.1316-54A>C
n.497A>C
n.568A>C
c.5168A>C (p.Gln1723Pro)
c.4220A>C (p.Gln1407Pro)
c.5396A>C (p.Gln1799Pro)
c.5285A>C (p.Gln1762Pro)
c.5207A>C (p.Gln1736Pro)
c.4859A>C (p.Gln1620Pro)
c.4484A>C (p.Gln1495Pro)
c.5291A>C (p.Gln1764Pro)
c.5393A>C (p.Gln1798Pro)
c.5336A>C (p.Gln1779Pro)
c.5312A>C (p.Gln1771Pro)
c.5267A>C (p.Gln1756Pro)
3g.53801158A>GCA353250080CACNA1Dc.5201A>G (p.Gln1734Arg)
n.2194-54A>G
n.576A>G
c.5141A>G (p.Gln1714Arg)
c.5096A>G (p.Gln1699Arg)
c.1316-54A>G
n.497A>G
n.568A>G
c.5168A>G (p.Gln1723Arg)
c.4220A>G (p.Gln1407Arg)
c.5396A>G (p.Gln1799Arg)
c.5285A>G (p.Gln1762Arg)
c.5207A>G (p.Gln1736Arg)
c.4859A>G (p.Gln1620Arg)
c.4484A>G (p.Gln1495Arg)
c.5291A>G (p.Gln1764Arg)
c.5393A>G (p.Gln1798Arg)
c.5336A>G (p.Gln1779Arg)
c.5312A>G (p.Gln1771Arg)
c.5267A>G (p.Gln1756Arg)
3g.53801158A>TCA353250082CACNA1Dc.5201A>T (p.Gln1734Leu)
n.2194-54A>T
n.576A>T
c.5141A>T (p.Gln1714Leu)
c.5096A>T (p.Gln1699Leu)
c.1316-54A>T
n.497A>T
n.568A>T
c.5168A>T (p.Gln1723Leu)
c.4220A>T (p.Gln1407Leu)
c.5396A>T (p.Gln1799Leu)
c.5285A>T (p.Gln1762Leu)
c.5207A>T (p.Gln1736Leu)
c.4859A>T (p.Gln1620Leu)
c.4484A>T (p.Gln1495Leu)
c.5291A>T (p.Gln1764Leu)
c.5393A>T (p.Gln1798Leu)
c.5336A>T (p.Gln1779Leu)
c.5312A>T (p.Gln1771Leu)
c.5267A>T (p.Gln1756Leu)
3g.53801159A>CCA353250085CACNA1Dc.5202A>C (p.Gln1734His)
n.2194-53A>C
n.577A>C
c.5142A>C (p.Gln1714His)
c.5097A>C (p.Gln1699His)
c.1316-53A>C
n.498A>C
n.569A>C
c.5169A>C (p.Gln1723His)
c.4221A>C (p.Gln1407His)
c.5397A>C (p.Gln1799His)
c.5286A>C (p.Gln1762His)
c.5208A>C (p.Gln1736His)
c.4860A>C (p.Gln1620His)
c.4485A>C (p.Gln1495His)
c.5292A>C (p.Gln1764His)
c.5394A>C (p.Gln1798His)
c.5337A>C (p.Gln1779His)
c.5313A>C (p.Gln1771His)
c.5268A>C (p.Gln1756His)
3g.53801159A>GCA433895911CACNA1Dc.5202A>G (p.Gln1734=)
n.2194-53A>G
n.577A>G
c.5142A>G (p.Gln1714=)
c.5097A>G (p.Gln1699=)
c.1316-53A>G
n.498A>G
n.569A>G
c.5169A>G (p.Gln1723=)
c.4221A>G (p.Gln1407=)
c.5397A>G (p.Gln1799=)
c.5286A>G (p.Gln1762=)
c.5208A>G (p.Gln1736=)
c.4860A>G (p.Gln1620=)
c.4485A>G (p.Gln1495=)
c.5292A>G (p.Gln1764=)
c.5394A>G (p.Gln1798=)
c.5337A>G (p.Gln1779=)
c.5313A>G (p.Gln1771=)
c.5268A>G (p.Gln1756=)
 gnomAD v4
3g.53801159A>TCA353250087CACNA1Dc.5202A>T (p.Gln1734His)
n.2194-53A>T
n.577A>T
c.5142A>T (p.Gln1714His)
c.5097A>T (p.Gln1699His)
c.1316-53A>T
n.498A>T
n.569A>T
c.5169A>T (p.Gln1723His)
c.4221A>T (p.Gln1407His)
c.5397A>T (p.Gln1799His)
c.5286A>T (p.Gln1762His)
c.5208A>T (p.Gln1736His)
c.4860A>T (p.Gln1620His)
c.4485A>T (p.Gln1495His)
c.5292A>T (p.Gln1764His)
c.5394A>T (p.Gln1798His)
c.5337A>T (p.Gln1779His)
c.5313A>T (p.Gln1771His)
c.5268A>T (p.Gln1756His)
3g.53801160A>CCA433895912CACNA1Dc.5203A>C (p.Arg1735=)
n.2194-52A>C
n.578A>C
c.5143A>C (p.Arg1715=)
c.5098A>C (p.Arg1700=)
c.1316-52A>C
n.499A>C
n.570A>C
c.5170A>C (p.Arg1724=)
c.4222A>C (p.Arg1408=)
c.5398A>C (p.Arg1800=)
c.5287A>C (p.Arg1763=)
c.5209A>C (p.Arg1737=)
c.4861A>C (p.Arg1621=)
c.4486A>C (p.Arg1496=)
c.5293A>C (p.Arg1765=)
c.5395A>C (p.Arg1799=)
c.5338A>C (p.Arg1780=)
c.5314A>C (p.Arg1772=)
c.5269A>C (p.Arg1757=)
3g.53801160A>GCA353250090CACNA1Dc.5203A>G (p.Arg1735Gly)
n.2194-52A>G
n.578A>G
c.5143A>G (p.Arg1715Gly)
c.5098A>G (p.Arg1700Gly)
c.1316-52A>G
n.499A>G
n.570A>G
c.5170A>G (p.Arg1724Gly)
c.4222A>G (p.Arg1408Gly)
c.5398A>G (p.Arg1800Gly)
c.5287A>G (p.Arg1763Gly)
c.5209A>G (p.Arg1737Gly)
c.4861A>G (p.Arg1621Gly)
c.4486A>G (p.Arg1496Gly)
c.5293A>G (p.Arg1765Gly)
c.5395A>G (p.Arg1799Gly)
c.5338A>G (p.Arg1780Gly)
c.5314A>G (p.Arg1772Gly)
c.5269A>G (p.Arg1757Gly)
3g.53801160A>TCA353250092CACNA1Dc.5203A>T (p.Arg1735Trp)
n.2194-52A>T
n.578A>T
c.5143A>T (p.Arg1715Trp)
c.5098A>T (p.Arg1700Trp)
c.1316-52A>T
n.499A>T
n.570A>T
c.5170A>T (p.Arg1724Trp)
c.4222A>T (p.Arg1408Trp)
c.5398A>T (p.Arg1800Trp)
c.5287A>T (p.Arg1763Trp)
c.5209A>T (p.Arg1737Trp)
c.4861A>T (p.Arg1621Trp)
c.4486A>T (p.Arg1496Trp)
c.5293A>T (p.Arg1765Trp)
c.5395A>T (p.Arg1799Trp)
c.5338A>T (p.Arg1780Trp)
c.5314A>T (p.Arg1772Trp)
c.5269A>T (p.Arg1757Trp)
3g.53801161G>ACA353250094CACNA1Dc.5204G>A (p.Arg1735Lys)
n.2194-51G>A
n.579G>A
c.5144G>A (p.Arg1715Lys)
c.5099G>A (p.Arg1700Lys)
c.1316-51G>A
n.500G>A
n.571G>A
c.5171G>A (p.Arg1724Lys)
c.4223G>A (p.Arg1408Lys)
c.5399G>A (p.Arg1800Lys)
c.5288G>A (p.Arg1763Lys)
c.5210G>A (p.Arg1737Lys)
c.4862G>A (p.Arg1621Lys)
c.4487G>A (p.Arg1496Lys)
c.5294G>A (p.Arg1765Lys)
c.5396G>A (p.Arg1799Lys)
c.5339G>A (p.Arg1780Lys)
c.5315G>A (p.Arg1772Lys)
c.5270G>A (p.Arg1757Lys)
3g.53801161G>CCA353250097CACNA1Dc.5204G>C (p.Arg1735Thr)
n.2194-51G>C
n.579G>C
c.5144G>C (p.Arg1715Thr)
c.5099G>C (p.Arg1700Thr)
c.1316-51G>C
n.500G>C
n.571G>C
c.5171G>C (p.Arg1724Thr)
c.4223G>C (p.Arg1408Thr)
c.5399G>C (p.Arg1800Thr)
c.5288G>C (p.Arg1763Thr)
c.5210G>C (p.Arg1737Thr)
c.4862G>C (p.Arg1621Thr)
c.4487G>C (p.Arg1496Thr)
c.5294G>C (p.Arg1765Thr)
c.5396G>C (p.Arg1799Thr)
c.5339G>C (p.Arg1780Thr)
c.5315G>C (p.Arg1772Thr)
c.5270G>C (p.Arg1757Thr)
3g.53801161G>TCA353250099CACNA1Dc.5204G>T (p.Arg1735Met)
n.2194-51G>T
n.579G>T
c.5144G>T (p.Arg1715Met)
c.5099G>T (p.Arg1700Met)
c.1316-51G>T
n.500G>T
n.571G>T
c.5171G>T (p.Arg1724Met)
c.4223G>T (p.Arg1408Met)
c.5399G>T (p.Arg1800Met)
c.5288G>T (p.Arg1763Met)
c.5210G>T (p.Arg1737Met)
c.4862G>T (p.Arg1621Met)
c.4487G>T (p.Arg1496Met)
c.5294G>T (p.Arg1765Met)
c.5396G>T (p.Arg1799Met)
c.5339G>T (p.Arg1780Met)
c.5315G>T (p.Arg1772Met)
c.5270G>T (p.Arg1757Met)
3g.53801162G>ACA433895919CACNA1Dc.5205G>A (p.Arg1735=)
n.2194-50G>A
n.580G>A
c.5145G>A (p.Arg1715=)
c.5100G>A (p.Arg1700=)
c.1316-50G>A
n.501G>A
n.572G>A
c.5172G>A (p.Arg1724=)
c.4224G>A (p.Arg1408=)
c.5400G>A (p.Arg1800=)
c.5289G>A (p.Arg1763=)
c.5211G>A (p.Arg1737=)
c.4863G>A (p.Arg1621=)
c.4488G>A (p.Arg1496=)
c.5295G>A (p.Arg1765=)
c.5397G>A (p.Arg1799=)
c.5340G>A (p.Arg1780=)
c.5316G>A (p.Arg1772=)
c.5271G>A (p.Arg1757=)
3g.53801162G>CCA353250102CACNA1Dc.5205G>C (p.Arg1735Ser)
n.2194-50G>C
n.580G>C
c.5145G>C (p.Arg1715Ser)
c.5100G>C (p.Arg1700Ser)
c.1316-50G>C
n.501G>C
n.572G>C
c.5172G>C (p.Arg1724Ser)
c.4224G>C (p.Arg1408Ser)
c.5400G>C (p.Arg1800Ser)
c.5289G>C (p.Arg1763Ser)
c.5211G>C (p.Arg1737Ser)
c.4863G>C (p.Arg1621Ser)
c.4488G>C (p.Arg1496Ser)
c.5295G>C (p.Arg1765Ser)
c.5397G>C (p.Arg1799Ser)
c.5340G>C (p.Arg1780Ser)
c.5316G>C (p.Arg1772Ser)
c.5271G>C (p.Arg1757Ser)
3g.53801162G>TCA353250104CACNA1Dc.5205G>T (p.Arg1735Ser)
n.2194-50G>T
n.580G>T
c.5145G>T (p.Arg1715Ser)
c.5100G>T (p.Arg1700Ser)
c.1316-50G>T
n.501G>T
n.572G>T
c.5172G>T (p.Arg1724Ser)
c.4224G>T (p.Arg1408Ser)
c.5400G>T (p.Arg1800Ser)
c.5289G>T (p.Arg1763Ser)
c.5211G>T (p.Arg1737Ser)
c.4863G>T (p.Arg1621Ser)
c.4488G>T (p.Arg1496Ser)
c.5295G>T (p.Arg1765Ser)
c.5397G>T (p.Arg1799Ser)
c.5340G>T (p.Arg1780Ser)
c.5316G>T (p.Arg1772Ser)
c.5271G>T (p.Arg1757Ser)
 COSMIC COSMIC
3g.53801163C>ACA353250108CACNA1Dc.5206C>A (p.Pro1736Thr)
n.2194-49C>A
n.581C>A
c.5146C>A (p.Pro1716Thr)
c.5101C>A (p.Pro1701Thr)
c.1316-49C>A
n.502C>A
n.573C>A
c.5173C>A (p.Pro1725Thr)
c.4225C>A (p.Pro1409Thr)
c.5401C>A (p.Pro1801Thr)
c.5290C>A (p.Pro1764Thr)
c.5212C>A (p.Pro1738Thr)
c.4864C>A (p.Pro1622Thr)
c.4489C>A (p.Pro1497Thr)
c.5296C>A (p.Pro1766Thr)
c.5398C>A (p.Pro1800Thr)
c.5341C>A (p.Pro1781Thr)
c.5317C>A (p.Pro1773Thr)
c.5272C>A (p.Pro1758Thr)
3g.53801163C>GCA353250109CACNA1Dc.5206C>G (p.Pro1736Ala)
n.2194-49C>G
n.581C>G
c.5146C>G (p.Pro1716Ala)
c.5101C>G (p.Pro1701Ala)
c.1316-49C>G
n.502C>G
n.573C>G
c.5173C>G (p.Pro1725Ala)
c.4225C>G (p.Pro1409Ala)
c.5401C>G (p.Pro1801Ala)
c.5290C>G (p.Pro1764Ala)
c.5212C>G (p.Pro1738Ala)
c.4864C>G (p.Pro1622Ala)
c.4489C>G (p.Pro1497Ala)
c.5296C>G (p.Pro1766Ala)
c.5398C>G (p.Pro1800Ala)
c.5341C>G (p.Pro1781Ala)
c.5317C>G (p.Pro1773Ala)
c.5272C>G (p.Pro1758Ala)
3g.53801163C>TCA353250111CACNA1Dc.5206C>T (p.Pro1736Ser)
n.2194-49C>T
n.581C>T
c.5146C>T (p.Pro1716Ser)
c.5101C>T (p.Pro1701Ser)
c.1316-49C>T
n.502C>T
n.573C>T
c.5173C>T (p.Pro1725Ser)
c.4225C>T (p.Pro1409Ser)
c.5401C>T (p.Pro1801Ser)
c.5290C>T (p.Pro1764Ser)
c.5212C>T (p.Pro1738Ser)
c.4864C>T (p.Pro1622Ser)
c.4489C>T (p.Pro1497Ser)
c.5296C>T (p.Pro1766Ser)
c.5398C>T (p.Pro1800Ser)
c.5341C>T (p.Pro1781Ser)
c.5317C>T (p.Pro1773Ser)
c.5272C>T (p.Pro1758Ser)
 ClinVar gnomAD v4
3g.53801164C>ACA353250117CACNA1Dc.5207C>A (p.Pro1736His)
n.2194-48C>A
n.582C>A
c.5147C>A (p.Pro1716His)
c.5102C>A (p.Pro1701His)
c.1316-48C>A
n.503C>A
n.574C>A
c.5174C>A (p.Pro1725His)
c.4226C>A (p.Pro1409His)
c.5402C>A (p.Pro1801His)
c.5291C>A (p.Pro1764His)
c.5213C>A (p.Pro1738His)
c.4865C>A (p.Pro1622His)
c.4490C>A (p.Pro1497His)
c.5297C>A (p.Pro1766His)
c.5399C>A (p.Pro1800His)
c.5342C>A (p.Pro1781His)
c.5318C>A (p.Pro1773His)
c.5273C>A (p.Pro1758His)
3g.53801164C>GCA353250120CACNA1Dc.5207C>G (p.Pro1736Arg)
n.2194-48C>G
n.582C>G
c.5147C>G (p.Pro1716Arg)
c.5102C>G (p.Pro1701Arg)
c.1316-48C>G
n.503C>G
n.574C>G
c.5174C>G (p.Pro1725Arg)
c.4226C>G (p.Pro1409Arg)
c.5402C>G (p.Pro1801Arg)
c.5291C>G (p.Pro1764Arg)
c.5213C>G (p.Pro1738Arg)
c.4865C>G (p.Pro1622Arg)
c.4490C>G (p.Pro1497Arg)
c.5297C>G (p.Pro1766Arg)
c.5399C>G (p.Pro1800Arg)
c.5342C>G (p.Pro1781Arg)
c.5318C>G (p.Pro1773Arg)
c.5273C>G (p.Pro1758Arg)
3g.53801164C>TCA353250122CACNA1Dc.5207C>T (p.Pro1736Leu)
n.2194-48C>T
n.582C>T
c.5147C>T (p.Pro1716Leu)
c.5102C>T (p.Pro1701Leu)
c.1316-48C>T
n.503C>T
n.574C>T
c.5174C>T (p.Pro1725Leu)
c.4226C>T (p.Pro1409Leu)
c.5402C>T (p.Pro1801Leu)
c.5291C>T (p.Pro1764Leu)
c.5213C>T (p.Pro1738Leu)
c.4865C>T (p.Pro1622Leu)
c.4490C>T (p.Pro1497Leu)
c.5297C>T (p.Pro1766Leu)
c.5399C>T (p.Pro1800Leu)
c.5342C>T (p.Pro1781Leu)
c.5318C>T (p.Pro1773Leu)
c.5273C>T (p.Pro1758Leu)
3g.53801165T>ACA433895922CACNA1Dc.5208T>A (p.Pro1736=)
n.2194-47T>A
n.583T>A
c.5148T>A (p.Pro1716=)
c.5103T>A (p.Pro1701=)
c.1316-47T>A
n.504T>A
n.575T>A
c.5175T>A (p.Pro1725=)
c.4227T>A (p.Pro1409=)
c.5403T>A (p.Pro1801=)
c.5292T>A (p.Pro1764=)
c.5214T>A (p.Pro1738=)
c.4866T>A (p.Pro1622=)
c.4491T>A (p.Pro1497=)
c.5298T>A (p.Pro1766=)
c.5400T>A (p.Pro1800=)
c.5343T>A (p.Pro1781=)
c.5319T>A (p.Pro1773=)
c.5274T>A (p.Pro1758=)
3g.53801165T>CCA433895924CACNA1Dc.5208T>C (p.Pro1736=)
n.2194-47T>C
n.583T>C
c.5148T>C (p.Pro1716=)
c.5103T>C (p.Pro1701=)
c.1316-47T>C
n.504T>C
n.575T>C
c.5175T>C (p.Pro1725=)
c.4227T>C (p.Pro1409=)
c.5403T>C (p.Pro1801=)
c.5292T>C (p.Pro1764=)
c.5214T>C (p.Pro1738=)
c.4866T>C (p.Pro1622=)
c.4491T>C (p.Pro1497=)
c.5298T>C (p.Pro1766=)
c.5400T>C (p.Pro1800=)
c.5343T>C (p.Pro1781=)
c.5319T>C (p.Pro1773=)
c.5274T>C (p.Pro1758=)
3g.53801165T>GCA433895923CACNA1Dc.5208T>G (p.Pro1736=)
n.2194-47T>G
n.583T>G
c.5148T>G (p.Pro1716=)
c.5103T>G (p.Pro1701=)
c.1316-47T>G
n.504T>G
n.575T>G
c.5175T>G (p.Pro1725=)
c.4227T>G (p.Pro1409=)
c.5403T>G (p.Pro1801=)
c.5292T>G (p.Pro1764=)
c.5214T>G (p.Pro1738=)
c.4866T>G (p.Pro1622=)
c.4491T>G (p.Pro1497=)
c.5298T>G (p.Pro1766=)
c.5400T>G (p.Pro1800=)
c.5343T>G (p.Pro1781=)
c.5319T>G (p.Pro1773=)
c.5274T>G (p.Pro1758=)
3g.53801166T>ACA353250125CACNA1Dc.5209T>A (p.Ser1737Thr)
n.2194-46T>A
n.584T>A
c.5149T>A (p.Ser1717Thr)
c.5104T>A (p.Ser1702Thr)
c.1316-46T>A
n.505T>A
n.576T>A
c.5176T>A (p.Ser1726Thr)
c.4228T>A (p.Ser1410Thr)
c.5404T>A (p.Ser1802Thr)
c.5293T>A (p.Ser1765Thr)
c.5215T>A (p.Ser1739Thr)
c.4867T>A (p.Ser1623Thr)
c.4492T>A (p.Ser1498Thr)
c.5299T>A (p.Ser1767Thr)
c.5401T>A (p.Ser1801Thr)
c.5344T>A (p.Ser1782Thr)
c.5320T>A (p.Ser1774Thr)
c.5275T>A (p.Ser1759Thr)
3g.53801166T>CCA353250128CACNA1Dc.5209T>C (p.Ser1737Pro)
n.2194-46T>C
n.584T>C
c.5149T>C (p.Ser1717Pro)
c.5104T>C (p.Ser1702Pro)
c.1316-46T>C
n.505T>C
n.576T>C
c.5176T>C (p.Ser1726Pro)
c.4228T>C (p.Ser1410Pro)
c.5404T>C (p.Ser1802Pro)
c.5293T>C (p.Ser1765Pro)
c.5215T>C (p.Ser1739Pro)
c.4867T>C (p.Ser1623Pro)
c.4492T>C (p.Ser1498Pro)
c.5299T>C (p.Ser1767Pro)
c.5401T>C (p.Ser1801Pro)
c.5344T>C (p.Ser1782Pro)
c.5320T>C (p.Ser1774Pro)
c.5275T>C (p.Ser1759Pro)
3g.53801166T>GCA353250131CACNA1Dc.5209T>G (p.Ser1737Ala)
n.2194-46T>G
n.584T>G
c.5149T>G (p.Ser1717Ala)
c.5104T>G (p.Ser1702Ala)
c.1316-46T>G
n.505T>G
n.576T>G
c.5176T>G (p.Ser1726Ala)
c.4228T>G (p.Ser1410Ala)
c.5404T>G (p.Ser1802Ala)
c.5293T>G (p.Ser1765Ala)
c.5215T>G (p.Ser1739Ala)
c.4867T>G (p.Ser1623Ala)
c.4492T>G (p.Ser1498Ala)
c.5299T>G (p.Ser1767Ala)
c.5401T>G (p.Ser1801Ala)
c.5344T>G (p.Ser1782Ala)
c.5320T>G (p.Ser1774Ala)
c.5275T>G (p.Ser1759Ala)
3g.53801167C>ACA353250134CACNA1Dc.5210C>A (p.Ser1737Ter)
n.2194-45C>A
n.585C>A
c.5150C>A (p.Ser1717Ter)
c.5105C>A (p.Ser1702Ter)
c.1316-45C>A
n.506C>A
n.577C>A
c.5177C>A (p.Ser1726Ter)
c.4229C>A (p.Ser1410Ter)
c.5405C>A (p.Ser1802Ter)
c.5294C>A (p.Ser1765Ter)
c.5216C>A (p.Ser1739Ter)
c.4868C>A (p.Ser1623Ter)
c.4493C>A (p.Ser1498Ter)
c.5300C>A (p.Ser1767Ter)
c.5402C>A (p.Ser1801Ter)
c.5345C>A (p.Ser1782Ter)
c.5321C>A (p.Ser1774Ter)
c.5276C>A (p.Ser1759Ter)
3g.53801167C>GCA353250138CACNA1Dc.5210C>G (p.Ser1737Ter)
n.2194-45C>G
n.585C>G
c.5150C>G (p.Ser1717Ter)
c.5105C>G (p.Ser1702Ter)
c.1316-45C>G
n.506C>G
n.577C>G
c.5177C>G (p.Ser1726Ter)
c.4229C>G (p.Ser1410Ter)
c.5405C>G (p.Ser1802Ter)
c.5294C>G (p.Ser1765Ter)
c.5216C>G (p.Ser1739Ter)
c.4868C>G (p.Ser1623Ter)
c.4493C>G (p.Ser1498Ter)
c.5300C>G (p.Ser1767Ter)
c.5402C>G (p.Ser1801Ter)
c.5345C>G (p.Ser1782Ter)
c.5321C>G (p.Ser1774Ter)
c.5276C>G (p.Ser1759Ter)
3g.53801167C>TCA353250158CACNA1Dc.5210C>T (p.Ser1737Leu)
n.2194-45C>T
n.585C>T
c.5150C>T (p.Ser1717Leu)
c.5105C>T (p.Ser1702Leu)
c.1316-45C>T
n.506C>T
n.577C>T
c.5177C>T (p.Ser1726Leu)
c.4229C>T (p.Ser1410Leu)
c.5405C>T (p.Ser1802Leu)
c.5294C>T (p.Ser1765Leu)
c.5216C>T (p.Ser1739Leu)
c.4868C>T (p.Ser1623Leu)
c.4493C>T (p.Ser1498Leu)
c.5300C>T (p.Ser1767Leu)
c.5402C>T (p.Ser1801Leu)
c.5345C>T (p.Ser1782Leu)
c.5321C>T (p.Ser1774Leu)
c.5276C>T (p.Ser1759Leu)
 gnomAD v4
3g.53801168A>CCA433895927CACNA1Dc.5211A>C (p.Ser1737=)
n.2194-44A>C
n.586A>C
c.5151A>C (p.Ser1717=)
c.5106A>C (p.Ser1702=)
c.1316-44A>C
n.507A>C
n.578A>C
c.5178A>C (p.Ser1726=)
c.4230A>C (p.Ser1410=)
c.5406A>C (p.Ser1802=)
c.5295A>C (p.Ser1765=)
c.5217A>C (p.Ser1739=)
c.4869A>C (p.Ser1623=)
c.4494A>C (p.Ser1498=)
c.5301A>C (p.Ser1767=)
c.5403A>C (p.Ser1801=)
c.5346A>C (p.Ser1782=)
c.5322A>C (p.Ser1774=)
c.5277A>C (p.Ser1759=)
3g.53801168A>GCA433895928CACNA1Dc.5211A>G (p.Ser1737=)
n.2194-44A>G
n.586A>G
c.5151A>G (p.Ser1717=)
c.5106A>G (p.Ser1702=)
c.1316-44A>G
n.507A>G
n.578A>G
c.5178A>G (p.Ser1726=)
c.4230A>G (p.Ser1410=)
c.5406A>G (p.Ser1802=)
c.5295A>G (p.Ser1765=)
c.5217A>G (p.Ser1739=)
c.4869A>G (p.Ser1623=)
c.4494A>G (p.Ser1498=)
c.5301A>G (p.Ser1767=)
c.5403A>G (p.Ser1801=)
c.5346A>G (p.Ser1782=)
c.5322A>G (p.Ser1774=)
c.5277A>G (p.Ser1759=)
3g.53801168A>TCA433895930CACNA1Dc.5211A>T (p.Ser1737=)
n.2194-44A>T
n.586A>T
c.5151A>T (p.Ser1717=)
c.5106A>T (p.Ser1702=)
c.1316-44A>T
n.507A>T
n.578A>T
c.5178A>T (p.Ser1726=)
c.4230A>T (p.Ser1410=)
c.5406A>T (p.Ser1802=)
c.5295A>T (p.Ser1765=)
c.5217A>T (p.Ser1739=)
c.4869A>T (p.Ser1623=)
c.4494A>T (p.Ser1498=)
c.5301A>T (p.Ser1767=)
c.5403A>T (p.Ser1801=)
c.5346A>T (p.Ser1782=)
c.5322A>T (p.Ser1774=)
c.5277A>T (p.Ser1759=)
3g.53801169A=CA1365484156CACNA1Dc.5212A= (p.Ile1738=)
n.2194-43A=
n.587A=
c.5152A= (p.Ile1718=)
c.5107A= (p.Ile1703=)
c.1316-43A=
n.508A=
n.579A=
c.5179A= (p.Ile1727=)
c.4231A= (p.Ile1411=)
c.5407A= (p.Ile1803=)
c.5296A= (p.Ile1766=)
c.5218A= (p.Ile1740=)
c.4870A= (p.Ile1624=)
c.4495A= (p.Ile1499=)
c.5302A= (p.Ile1768=)
c.5404A= (p.Ile1802=)
c.5347A= (p.Ile1783=)
c.5323A= (p.Ile1775=)
c.5278A= (p.Ile1760=)
3g.53801169A>CCA353250164CACNA1Dc.5212A>C (p.Ile1738Leu)
n.2194-43A>C
n.587A>C
c.5152A>C (p.Ile1718Leu)
c.5107A>C (p.Ile1703Leu)
c.1316-43A>C
n.508A>C
n.579A>C
c.5179A>C (p.Ile1727Leu)
c.4231A>C (p.Ile1411Leu)
c.5407A>C (p.Ile1803Leu)
c.5296A>C (p.Ile1766Leu)
c.5218A>C (p.Ile1740Leu)
c.4870A>C (p.Ile1624Leu)
c.4495A>C (p.Ile1499Leu)
c.5302A>C (p.Ile1768Leu)
c.5404A>C (p.Ile1802Leu)
c.5347A>C (p.Ile1783Leu)
c.5323A>C (p.Ile1775Leu)
c.5278A>C (p.Ile1760Leu)
 dbSNP gnomAD v3 gnomAD v4
3g.53801169A>GCA353250170CACNA1Dc.5212A>G (p.Ile1738Val)
n.2194-43A>G
n.587A>G
c.5152A>G (p.Ile1718Val)
c.5107A>G (p.Ile1703Val)
c.1316-43A>G
n.508A>G
n.579A>G
c.5179A>G (p.Ile1727Val)
c.4231A>G (p.Ile1411Val)
c.5407A>G (p.Ile1803Val)
c.5296A>G (p.Ile1766Val)
c.5218A>G (p.Ile1740Val)
c.4870A>G (p.Ile1624Val)
c.4495A>G (p.Ile1499Val)
c.5302A>G (p.Ile1768Val)
c.5404A>G (p.Ile1802Val)
c.5347A>G (p.Ile1783Val)
c.5323A>G (p.Ile1775Val)
c.5278A>G (p.Ile1760Val)
 dbSNP gnomAD v3 gnomAD v4
3g.53801169A>TCA353250161CACNA1Dc.5212A>T (p.Ile1738Phe)
n.2194-43A>T
n.587A>T
c.5152A>T (p.Ile1718Phe)
c.5107A>T (p.Ile1703Phe)
c.1316-43A>T
n.508A>T
n.579A>T
c.5179A>T (p.Ile1727Phe)
c.4231A>T (p.Ile1411Phe)
c.5407A>T (p.Ile1803Phe)
c.5296A>T (p.Ile1766Phe)
c.5218A>T (p.Ile1740Phe)
c.4870A>T (p.Ile1624Phe)
c.4495A>T (p.Ile1499Phe)
c.5302A>T (p.Ile1768Phe)
c.5404A>T (p.Ile1802Phe)
c.5347A>T (p.Ile1783Phe)
c.5323A>T (p.Ile1775Phe)
c.5278A>T (p.Ile1760Phe)
 gnomAD v4
3g.53801170T>ACA353250172CACNA1Dc.5213T>A (p.Ile1738Asn)
n.2194-42T>A
n.588T>A
c.5153T>A (p.Ile1718Asn)
c.5108T>A (p.Ile1703Asn)
c.1316-42T>A
n.509T>A
n.580T>A
c.5180T>A (p.Ile1727Asn)
c.4232T>A (p.Ile1411Asn)
c.5408T>A (p.Ile1803Asn)
c.5297T>A (p.Ile1766Asn)
c.5219T>A (p.Ile1740Asn)
c.4871T>A (p.Ile1624Asn)
c.4496T>A (p.Ile1499Asn)
c.5303T>A (p.Ile1768Asn)
c.5405T>A (p.Ile1802Asn)
c.5348T>A (p.Ile1783Asn)
c.5324T>A (p.Ile1775Asn)
c.5279T>A (p.Ile1760Asn)
3g.53801170T>CCA353250174CACNA1Dc.5213T>C (p.Ile1738Thr)
n.2194-42T>C
n.588T>C
c.5153T>C (p.Ile1718Thr)
c.5108T>C (p.Ile1703Thr)
c.1316-42T>C
n.509T>C
n.580T>C
c.5180T>C (p.Ile1727Thr)
c.4232T>C (p.Ile1411Thr)
c.5408T>C (p.Ile1803Thr)
c.5297T>C (p.Ile1766Thr)
c.5219T>C (p.Ile1740Thr)
c.4871T>C (p.Ile1624Thr)
c.4496T>C (p.Ile1499Thr)
c.5303T>C (p.Ile1768Thr)
c.5405T>C (p.Ile1802Thr)
c.5348T>C (p.Ile1783Thr)
c.5324T>C (p.Ile1775Thr)
c.5279T>C (p.Ile1760Thr)
3g.53801170T>GCA353250177CACNA1Dc.5213T>G (p.Ile1738Ser)
n.2194-42T>G
n.588T>G
c.5153T>G (p.Ile1718Ser)
c.5108T>G (p.Ile1703Ser)
c.1316-42T>G
n.509T>G
n.580T>G
c.5180T>G (p.Ile1727Ser)
c.4232T>G (p.Ile1411Ser)
c.5408T>G (p.Ile1803Ser)
c.5297T>G (p.Ile1766Ser)
c.5219T>G (p.Ile1740Ser)
c.4871T>G (p.Ile1624Ser)
c.4496T>G (p.Ile1499Ser)
c.5303T>G (p.Ile1768Ser)
c.5405T>G (p.Ile1802Ser)
c.5348T>G (p.Ile1783Ser)
c.5324T>G (p.Ile1775Ser)
c.5279T>G (p.Ile1760Ser)
3g.53801171T>ACA433895938CACNA1Dc.5214T>A (p.Ile1738=)
n.2194-41T>A
n.589T>A
c.5154T>A (p.Ile1718=)
c.5109T>A (p.Ile1703=)
c.1316-41T>A
n.510T>A
n.581T>A
c.5181T>A (p.Ile1727=)
c.4233T>A (p.Ile1411=)
c.5409T>A (p.Ile1803=)
c.5298T>A (p.Ile1766=)
c.5220T>A (p.Ile1740=)
c.4872T>A (p.Ile1624=)
c.4497T>A (p.Ile1499=)
c.5304T>A (p.Ile1768=)
c.5406T>A (p.Ile1802=)
c.5349T>A (p.Ile1783=)
c.5325T>A (p.Ile1775=)
c.5280T>A (p.Ile1760=)
3g.53801171T>CCA433895940CACNA1Dc.5214T>C (p.Ile1738=)
n.2194-41T>C
n.589T>C
c.5154T>C (p.Ile1718=)
c.5109T>C (p.Ile1703=)
c.1316-41T>C
n.510T>C
n.581T>C
c.5181T>C (p.Ile1727=)
c.4233T>C (p.Ile1411=)
c.5409T>C (p.Ile1803=)
c.5298T>C (p.Ile1766=)
c.5220T>C (p.Ile1740=)
c.4872T>C (p.Ile1624=)
c.4497T>C (p.Ile1499=)
c.5304T>C (p.Ile1768=)
c.5406T>C (p.Ile1802=)
c.5349T>C (p.Ile1783=)
c.5325T>C (p.Ile1775=)
c.5280T>C (p.Ile1760=)
3g.53801171T>GCA353250179CACNA1Dc.5214T>G (p.Ile1738Met)
n.2194-41T>G
n.589T>G
c.5154T>G (p.Ile1718Met)
c.5109T>G (p.Ile1703Met)
c.1316-41T>G
n.510T>G
n.581T>G
c.5181T>G (p.Ile1727Met)
c.4233T>G (p.Ile1411Met)
c.5409T>G (p.Ile1803Met)
c.5298T>G (p.Ile1766Met)
c.5220T>G (p.Ile1740Met)
c.4872T>G (p.Ile1624Met)
c.4497T>G (p.Ile1499Met)
c.5304T>G (p.Ile1768Met)
c.5406T>G (p.Ile1802Met)
c.5349T>G (p.Ile1783Met)
c.5325T>G (p.Ile1775Met)
c.5280T>G (p.Ile1760Met)
 COSMIC COSMIC
3g.53801172C>ACA353250192CACNA1Dc.5215C>A (p.Pro1739Thr)
n.2194-40C>A
n.590C>A
c.5155C>A (p.Pro1719Thr)
c.5110C>A (p.Pro1704Thr)
c.1316-40C>A
n.511C>A
n.582C>A
c.5182C>A (p.Pro1728Thr)
c.4234C>A (p.Pro1412Thr)
c.5410C>A (p.Pro1804Thr)
c.5299C>A (p.Pro1767Thr)
c.5221C>A (p.Pro1741Thr)
c.4873C>A (p.Pro1625Thr)
c.4498C>A (p.Pro1500Thr)
c.5305C>A (p.Pro1769Thr)
c.5407C>A (p.Pro1803Thr)
c.5350C>A (p.Pro1784Thr)
c.5326C>A (p.Pro1776Thr)
c.5281C>A (p.Pro1761Thr)
3g.53801172C>GCA353250196CACNA1Dc.5215C>G (p.Pro1739Ala)
n.2194-40C>G
n.590C>G
c.5155C>G (p.Pro1719Ala)
c.5110C>G (p.Pro1704Ala)
c.1316-40C>G
n.511C>G
n.582C>G
c.5182C>G (p.Pro1728Ala)
c.4234C>G (p.Pro1412Ala)
c.5410C>G (p.Pro1804Ala)
c.5299C>G (p.Pro1767Ala)
c.5221C>G (p.Pro1741Ala)
c.4873C>G (p.Pro1625Ala)
c.4498C>G (p.Pro1500Ala)
c.5305C>G (p.Pro1769Ala)
c.5407C>G (p.Pro1803Ala)
c.5350C>G (p.Pro1784Ala)
c.5326C>G (p.Pro1776Ala)
c.5281C>G (p.Pro1761Ala)
3g.53801172C>TCA353250201CACNA1Dc.5215C>T (p.Pro1739Ser)
n.2194-40C>T
n.590C>T
c.5155C>T (p.Pro1719Ser)
c.5110C>T (p.Pro1704Ser)
c.1316-40C>T
n.511C>T
n.582C>T
c.5182C>T (p.Pro1728Ser)
c.4234C>T (p.Pro1412Ser)
c.5410C>T (p.Pro1804Ser)
c.5299C>T (p.Pro1767Ser)
c.5221C>T (p.Pro1741Ser)
c.4873C>T (p.Pro1625Ser)
c.4498C>T (p.Pro1500Ser)
c.5305C>T (p.Pro1769Ser)
c.5407C>T (p.Pro1803Ser)
c.5350C>T (p.Pro1784Ser)
c.5326C>T (p.Pro1776Ser)
c.5281C>T (p.Pro1761Ser)
3g.53801173C>ACA353250205CACNA1Dc.5216C>A (p.Pro1739Gln)
n.2194-39C>A
n.591C>A
c.5156C>A (p.Pro1719Gln)
c.5111C>A (p.Pro1704Gln)
c.1316-39C>A
n.512C>A
n.583C>A
c.5183C>A (p.Pro1728Gln)
c.4235C>A (p.Pro1412Gln)
c.5411C>A (p.Pro1804Gln)
c.5300C>A (p.Pro1767Gln)
c.5222C>A (p.Pro1741Gln)
c.4874C>A (p.Pro1625Gln)
c.4499C>A (p.Pro1500Gln)
c.5306C>A (p.Pro1769Gln)
c.5408C>A (p.Pro1803Gln)
c.5351C>A (p.Pro1784Gln)
c.5327C>A (p.Pro1776Gln)
c.5282C>A (p.Pro1761Gln)
3g.53801173C=CA1365484157CACNA1Dc.5216C= (p.Pro1739=)
n.2194-39C=
n.591C=
c.5156C= (p.Pro1719=)
c.5111C= (p.Pro1704=)
c.1316-39C=
n.512C=
n.583C=
c.5183C= (p.Pro1728=)
c.4235C= (p.Pro1412=)
c.5411C= (p.Pro1804=)
c.5300C= (p.Pro1767=)
c.5222C= (p.Pro1741=)
c.4874C= (p.Pro1625=)
c.4499C= (p.Pro1500=)
c.5306C= (p.Pro1769=)
c.5408C= (p.Pro1803=)
c.5351C= (p.Pro1784=)
c.5327C= (p.Pro1776=)
c.5282C= (p.Pro1761=)
3g.53801173C>GCA353250207CACNA1Dc.5216C>G (p.Pro1739Arg)
n.2194-39C>G
n.591C>G
c.5156C>G (p.Pro1719Arg)
c.5111C>G (p.Pro1704Arg)
c.1316-39C>G
n.512C>G
n.583C>G
c.5183C>G (p.Pro1728Arg)
c.4235C>G (p.Pro1412Arg)
c.5411C>G (p.Pro1804Arg)
c.5300C>G (p.Pro1767Arg)
c.5222C>G (p.Pro1741Arg)
c.4874C>G (p.Pro1625Arg)
c.4499C>G (p.Pro1500Arg)
c.5306C>G (p.Pro1769Arg)
c.5408C>G (p.Pro1803Arg)
c.5351C>G (p.Pro1784Arg)
c.5327C>G (p.Pro1776Arg)
c.5282C>G (p.Pro1761Arg)
3g.53801173C>TCA353250211CACNA1Dc.5216C>T (p.Pro1739Leu)
n.2194-39C>T
n.591C>T
c.5156C>T (p.Pro1719Leu)
c.5111C>T (p.Pro1704Leu)
c.1316-39C>T
n.512C>T
n.583C>T
c.5183C>T (p.Pro1728Leu)
c.4235C>T (p.Pro1412Leu)
c.5411C>T (p.Pro1804Leu)
c.5300C>T (p.Pro1767Leu)
c.5222C>T (p.Pro1741Leu)
c.4874C>T (p.Pro1625Leu)
c.4499C>T (p.Pro1500Leu)
c.5306C>T (p.Pro1769Leu)
c.5408C>T (p.Pro1803Leu)
c.5351C>T (p.Pro1784Leu)
c.5327C>T (p.Pro1776Leu)
c.5282C>T (p.Pro1761Leu)
 dbSNP gnomAD v3 gnomAD v4
3g.53801174A>CCA433895952CACNA1Dc.5217A>C (p.Pro1739=)
n.2194-38A>C
n.592A>C
c.5157A>C (p.Pro1719=)
c.5112A>C (p.Pro1704=)
c.1316-38A>C
n.513A>C
n.584A>C
c.5184A>C (p.Pro1728=)
c.4236A>C (p.Pro1412=)
c.5412A>C (p.Pro1804=)
c.5301A>C (p.Pro1767=)
c.5223A>C (p.Pro1741=)
c.4875A>C (p.Pro1625=)
c.4500A>C (p.Pro1500=)
c.5307A>C (p.Pro1769=)
c.5409A>C (p.Pro1803=)
c.5352A>C (p.Pro1784=)
c.5328A>C (p.Pro1776=)
c.5283A>C (p.Pro1761=)
3g.53801174A>GCA433895950CACNA1Dc.5217A>G (p.Pro1739=)
n.2194-38A>G
n.592A>G
c.5157A>G (p.Pro1719=)
c.5112A>G (p.Pro1704=)
c.1316-38A>G
n.513A>G
n.584A>G
c.5184A>G (p.Pro1728=)
c.4236A>G (p.Pro1412=)
c.5412A>G (p.Pro1804=)
c.5301A>G (p.Pro1767=)
c.5223A>G (p.Pro1741=)
c.4875A>G (p.Pro1625=)
c.4500A>G (p.Pro1500=)
c.5307A>G (p.Pro1769=)
c.5409A>G (p.Pro1803=)
c.5352A>G (p.Pro1784=)
c.5328A>G (p.Pro1776=)
c.5283A>G (p.Pro1761=)
3g.53801174A>TCA433895951CACNA1Dc.5217A>T (p.Pro1739=)
n.2194-38A>T
n.592A>T
c.5157A>T (p.Pro1719=)
c.5112A>T (p.Pro1704=)
c.1316-38A>T
n.513A>T
n.584A>T
c.5184A>T (p.Pro1728=)
c.4236A>T (p.Pro1412=)
c.5412A>T (p.Pro1804=)
c.5301A>T (p.Pro1767=)
c.5223A>T (p.Pro1741=)
c.4875A>T (p.Pro1625=)
c.4500A>T (p.Pro1500=)
c.5307A>T (p.Pro1769=)
c.5409A>T (p.Pro1803=)
c.5352A>T (p.Pro1784=)
c.5328A>T (p.Pro1776=)
c.5283A>T (p.Pro1761=)
3g.53801175C>ACA353250215CACNA1Dc.5218C>A (p.Pro1740Thr)
n.2194-37C>A
n.593C>A
c.5158C>A (p.Pro1720Thr)
c.5113C>A (p.Pro1705Thr)
c.1316-37C>A
n.514C>A
n.585C>A
c.5185C>A (p.Pro1729Thr)
c.4237C>A (p.Pro1413Thr)
c.5413C>A (p.Pro1805Thr)
c.5302C>A (p.Pro1768Thr)
c.5224C>A (p.Pro1742Thr)
c.4876C>A (p.Pro1626Thr)
c.4501C>A (p.Pro1501Thr)
c.5308C>A (p.Pro1770Thr)
c.5410C>A (p.Pro1804Thr)
c.5353C>A (p.Pro1785Thr)
c.5329C>A (p.Pro1777Thr)
c.5284C>A (p.Pro1762Thr)
3g.53801175C=CA1365484158CACNA1Dc.5218C= (p.Pro1740=)
n.2194-37C=
n.593C=
c.5158C= (p.Pro1720=)
c.5113C= (p.Pro1705=)
c.1316-37C=
n.514C=
n.585C=
c.5185C= (p.Pro1729=)
c.4237C= (p.Pro1413=)
c.5413C= (p.Pro1805=)
c.5302C= (p.Pro1768=)
c.5224C= (p.Pro1742=)
c.4876C= (p.Pro1626=)
c.4501C= (p.Pro1501=)
c.5308C= (p.Pro1770=)
c.5410C= (p.Pro1804=)
c.5353C= (p.Pro1785=)
c.5329C= (p.Pro1777=)
c.5284C= (p.Pro1762=)
3g.53801175C>GCA353250217CACNA1Dc.5218C>G (p.Pro1740Ala)
n.2194-37C>G
n.593C>G
c.5158C>G (p.Pro1720Ala)
c.5113C>G (p.Pro1705Ala)
c.1316-37C>G
n.514C>G
n.585C>G
c.5185C>G (p.Pro1729Ala)
c.4237C>G (p.Pro1413Ala)
c.5413C>G (p.Pro1805Ala)
c.5302C>G (p.Pro1768Ala)
c.5224C>G (p.Pro1742Ala)
c.4876C>G (p.Pro1626Ala)
c.4501C>G (p.Pro1501Ala)
c.5308C>G (p.Pro1770Ala)
c.5410C>G (p.Pro1804Ala)
c.5353C>G (p.Pro1785Ala)
c.5329C>G (p.Pro1777Ala)
c.5284C>G (p.Pro1762Ala)
3g.53801175C>TCA353250220CACNA1Dc.5218C>T (p.Pro1740Ser)
n.2194-37C>T
n.593C>T
c.5158C>T (p.Pro1720Ser)
c.5113C>T (p.Pro1705Ser)
c.1316-37C>T
n.514C>T
n.585C>T
c.5185C>T (p.Pro1729Ser)
c.4237C>T (p.Pro1413Ser)
c.5413C>T (p.Pro1805Ser)
c.5302C>T (p.Pro1768Ser)
c.5224C>T (p.Pro1742Ser)
c.4876C>T (p.Pro1626Ser)
c.4501C>T (p.Pro1501Ser)
c.5308C>T (p.Pro1770Ser)
c.5410C>T (p.Pro1804Ser)
c.5353C>T (p.Pro1785Ser)
c.5329C>T (p.Pro1777Ser)
c.5284C>T (p.Pro1762Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.53801176C>ACA353250230CACNA1Dc.5219C>A (p.Pro1740His)
n.2194-36C>A
n.594C>A
c.5159C>A (p.Pro1720His)
c.5114C>A (p.Pro1705His)
c.1316-36C>A
n.515C>A
n.586C>A
c.5186C>A (p.Pro1729His)
c.4238C>A (p.Pro1413His)
c.5414C>A (p.Pro1805His)
c.5303C>A (p.Pro1768His)
c.5225C>A (p.Pro1742His)
c.4877C>A (p.Pro1626His)
c.4502C>A (p.Pro1501His)
c.5309C>A (p.Pro1770His)
c.5411C>A (p.Pro1804His)
c.5354C>A (p.Pro1785His)
c.5330C>A (p.Pro1777His)
c.5285C>A (p.Pro1762His)
3g.53801176C>GCA353250227CACNA1Dc.5219C>G (p.Pro1740Arg)
n.2194-36C>G
n.594C>G
c.5159C>G (p.Pro1720Arg)
c.5114C>G (p.Pro1705Arg)
c.1316-36C>G
n.515C>G
n.586C>G
c.5186C>G (p.Pro1729Arg)
c.4238C>G (p.Pro1413Arg)
c.5414C>G (p.Pro1805Arg)
c.5303C>G (p.Pro1768Arg)
c.5225C>G (p.Pro1742Arg)
c.4877C>G (p.Pro1626Arg)
c.4502C>G (p.Pro1501Arg)
c.5309C>G (p.Pro1770Arg)
c.5411C>G (p.Pro1804Arg)
c.5354C>G (p.Pro1785Arg)
c.5330C>G (p.Pro1777Arg)
c.5285C>G (p.Pro1762Arg)
3g.53801176C>TCA353250224CACNA1Dc.5219C>T (p.Pro1740Leu)
n.2194-36C>T
n.594C>T
c.5159C>T (p.Pro1720Leu)
c.5114C>T (p.Pro1705Leu)
c.1316-36C>T
n.515C>T
n.586C>T
c.5186C>T (p.Pro1729Leu)
c.4238C>T (p.Pro1413Leu)
c.5414C>T (p.Pro1805Leu)
c.5303C>T (p.Pro1768Leu)
c.5225C>T (p.Pro1742Leu)
c.4877C>T (p.Pro1626Leu)
c.4502C>T (p.Pro1501Leu)
c.5309C>T (p.Pro1770Leu)
c.5411C>T (p.Pro1804Leu)
c.5354C>T (p.Pro1785Leu)
c.5330C>T (p.Pro1777Leu)
c.5285C>T (p.Pro1762Leu)
3g.53801177T>ACA433895958CACNA1Dc.5220T>A (p.Pro1740=)
n.2194-35T>A
n.595T>A
c.5160T>A (p.Pro1720=)
c.5115T>A (p.Pro1705=)
c.1316-35T>A
n.516T>A
n.587T>A
c.5187T>A (p.Pro1729=)
c.4239T>A (p.Pro1413=)
c.5415T>A (p.Pro1805=)
c.5304T>A (p.Pro1768=)
c.5226T>A (p.Pro1742=)
c.4878T>A (p.Pro1626=)
c.4503T>A (p.Pro1501=)
c.5310T>A (p.Pro1770=)
c.5412T>A (p.Pro1804=)
c.5355T>A (p.Pro1785=)
c.5331T>A (p.Pro1777=)
c.5286T>A (p.Pro1762=)
3g.53801177T>CCA433895959CACNA1Dc.5220T>C (p.Pro1740=)
n.2194-35T>C
n.595T>C
c.5160T>C (p.Pro1720=)
c.5115T>C (p.Pro1705=)
c.1316-35T>C
n.516T>C
n.587T>C
c.5187T>C (p.Pro1729=)
c.4239T>C (p.Pro1413=)
c.5415T>C (p.Pro1805=)
c.5304T>C (p.Pro1768=)
c.5226T>C (p.Pro1742=)
c.4878T>C (p.Pro1626=)
c.4503T>C (p.Pro1501=)
c.5310T>C (p.Pro1770=)
c.5412T>C (p.Pro1804=)
c.5355T>C (p.Pro1785=)
c.5331T>C (p.Pro1777=)
c.5286T>C (p.Pro1762=)
3g.53801177T>GCA433895960CACNA1Dc.5220T>G (p.Pro1740=)
n.2194-35T>G
n.595T>G
c.5160T>G (p.Pro1720=)
c.5115T>G (p.Pro1705=)
c.1316-35T>G
n.516T>G
n.587T>G
c.5187T>G (p.Pro1729=)
c.4239T>G (p.Pro1413=)
c.5415T>G (p.Pro1805=)
c.5304T>G (p.Pro1768=)
c.5226T>G (p.Pro1742=)
c.4878T>G (p.Pro1626=)
c.4503T>G (p.Pro1501=)
c.5310T>G (p.Pro1770=)
c.5412T>G (p.Pro1804=)
c.5355T>G (p.Pro1785=)
c.5331T>G (p.Pro1777=)
c.5286T>G (p.Pro1762=)
3g.53801178G>ACA353250232CACNA1Dc.5221G>A (p.Ala1741Thr)
n.2194-34G>A
n.596G>A
c.5161G>A (p.Ala1721Thr)
c.5116G>A (p.Ala1706Thr)
c.1316-34G>A
n.517G>A
n.588G>A
c.5188G>A (p.Ala1730Thr)
c.4240G>A (p.Ala1414Thr)
c.5416G>A (p.Ala1806Thr)
c.5305G>A (p.Ala1769Thr)
c.5227G>A (p.Ala1743Thr)
c.4879G>A (p.Ala1627Thr)
c.4504G>A (p.Ala1502Thr)
c.5311G>A (p.Ala1771Thr)
c.5413G>A (p.Ala1805Thr)
c.5356G>A (p.Ala1786Thr)
c.5332G>A (p.Ala1778Thr)
c.5287G>A (p.Ala1763Thr)
 ClinVar dbSNP gnomAD v4
3g.53801178G>CCA353250234CACNA1Dc.5221G>C (p.Ala1741Pro)
n.2194-34G>C
n.596G>C
c.5161G>C (p.Ala1721Pro)
c.5116G>C (p.Ala1706Pro)
c.1316-34G>C
n.517G>C
n.588G>C
c.5188G>C (p.Ala1730Pro)
c.4240G>C (p.Ala1414Pro)
c.5416G>C (p.Ala1806Pro)
c.5305G>C (p.Ala1769Pro)
c.5227G>C (p.Ala1743Pro)
c.4879G>C (p.Ala1627Pro)
c.4504G>C (p.Ala1502Pro)
c.5311G>C (p.Ala1771Pro)
c.5413G>C (p.Ala1805Pro)
c.5356G>C (p.Ala1786Pro)
c.5332G>C (p.Ala1778Pro)
c.5287G>C (p.Ala1763Pro)
3g.53801178G=CA1365484159CACNA1Dc.5221G= (p.Ala1741=)
n.2194-34G=
n.596G=
c.5161G= (p.Ala1721=)
c.5116G= (p.Ala1706=)
c.1316-34G=
n.517G=
n.588G=
c.5188G= (p.Ala1730=)
c.4240G= (p.Ala1414=)
c.5416G= (p.Ala1806=)
c.5305G= (p.Ala1769=)
c.5227G= (p.Ala1743=)
c.4879G= (p.Ala1627=)
c.4504G= (p.Ala1502=)
c.5311G= (p.Ala1771=)
c.5413G= (p.Ala1805=)
c.5356G= (p.Ala1786=)
c.5332G= (p.Ala1778=)
c.5287G= (p.Ala1763=)
3g.53801178G>TCA353250237CACNA1Dc.5221G>T (p.Ala1741Ser)
n.2194-34G>T
n.596G>T
c.5161G>T (p.Ala1721Ser)
c.5116G>T (p.Ala1706Ser)
c.1316-34G>T
n.517G>T
n.588G>T
c.5188G>T (p.Ala1730Ser)
c.4240G>T (p.Ala1414Ser)
c.5416G>T (p.Ala1806Ser)
c.5305G>T (p.Ala1769Ser)
c.5227G>T (p.Ala1743Ser)
c.4879G>T (p.Ala1627Ser)
c.4504G>T (p.Ala1502Ser)
c.5311G>T (p.Ala1771Ser)
c.5413G>T (p.Ala1805Ser)
c.5356G>T (p.Ala1786Ser)
c.5332G>T (p.Ala1778Ser)
c.5287G>T (p.Ala1763Ser)
3g.53801179C>ACA353250240CACNA1Dc.5222C>A (p.Ala1741Glu)
n.2194-33C>A
n.597C>A
c.5162C>A (p.Ala1721Glu)
c.5117C>A (p.Ala1706Glu)
c.1316-33C>A
n.518C>A
n.589C>A
c.5189C>A (p.Ala1730Glu)
c.4241C>A (p.Ala1414Glu)
c.5417C>A (p.Ala1806Glu)
c.5306C>A (p.Ala1769Glu)
c.5228C>A (p.Ala1743Glu)
c.4880C>A (p.Ala1627Glu)
c.4505C>A (p.Ala1502Glu)
c.5312C>A (p.Ala1771Glu)
c.5414C>A (p.Ala1805Glu)
c.5357C>A (p.Ala1786Glu)
c.5333C>A (p.Ala1778Glu)
c.5288C>A (p.Ala1763Glu)
3g.53801179C>GCA353250243CACNA1Dc.5222C>G (p.Ala1741Gly)
n.2194-33C>G
n.597C>G
c.5162C>G (p.Ala1721Gly)
c.5117C>G (p.Ala1706Gly)
c.1316-33C>G
n.518C>G
n.589C>G
c.5189C>G (p.Ala1730Gly)
c.4241C>G (p.Ala1414Gly)
c.5417C>G (p.Ala1806Gly)
c.5306C>G (p.Ala1769Gly)
c.5228C>G (p.Ala1743Gly)
c.4880C>G (p.Ala1627Gly)
c.4505C>G (p.Ala1502Gly)
c.5312C>G (p.Ala1771Gly)
c.5414C>G (p.Ala1805Gly)
c.5357C>G (p.Ala1786Gly)
c.5333C>G (p.Ala1778Gly)
c.5288C>G (p.Ala1763Gly)
3g.53801179C>TCA353250245CACNA1Dc.5222C>T (p.Ala1741Val)
n.2194-33C>T
n.597C>T
c.5162C>T (p.Ala1721Val)
c.5117C>T (p.Ala1706Val)
c.1316-33C>T
n.518C>T
n.589C>T
c.5189C>T (p.Ala1730Val)
c.4241C>T (p.Ala1414Val)
c.5417C>T (p.Ala1806Val)
c.5306C>T (p.Ala1769Val)
c.5228C>T (p.Ala1743Val)
c.4880C>T (p.Ala1627Val)
c.4505C>T (p.Ala1502Val)
c.5312C>T (p.Ala1771Val)
c.5414C>T (p.Ala1805Val)
c.5357C>T (p.Ala1786Val)
c.5333C>T (p.Ala1778Val)
c.5288C>T (p.Ala1763Val)
3g.53801180A>CCA433895967CACNA1Dc.5223A>C (p.Ala1741=)
n.2194-32A>C
n.598A>C
c.5163A>C (p.Ala1721=)
c.5118A>C (p.Ala1706=)
c.1316-32A>C
n.519A>C
n.590A>C
c.5190A>C (p.Ala1730=)
c.4242A>C (p.Ala1414=)
c.5418A>C (p.Ala1806=)
c.5307A>C (p.Ala1769=)
c.5229A>C (p.Ala1743=)
c.4881A>C (p.Ala1627=)
c.4506A>C (p.Ala1502=)
c.5313A>C (p.Ala1771=)
c.5415A>C (p.Ala1805=)
c.5358A>C (p.Ala1786=)
c.5334A>C (p.Ala1778=)
c.5289A>C (p.Ala1763=)
3g.53801180A>GCA433895970CACNA1Dc.5223A>G (p.Ala1741=)
n.2194-32A>G
n.598A>G
c.5163A>G (p.Ala1721=)
c.5118A>G (p.Ala1706=)
c.1316-32A>G
n.519A>G
n.590A>G
c.5190A>G (p.Ala1730=)
c.4242A>G (p.Ala1414=)
c.5418A>G (p.Ala1806=)
c.5307A>G (p.Ala1769=)
c.5229A>G (p.Ala1743=)
c.4881A>G (p.Ala1627=)
c.4506A>G (p.Ala1502=)
c.5313A>G (p.Ala1771=)
c.5415A>G (p.Ala1805=)
c.5358A>G (p.Ala1786=)
c.5334A>G (p.Ala1778=)
c.5289A>G (p.Ala1763=)
3g.53801180A>TCA433895969CACNA1Dc.5223A>T (p.Ala1741=)
n.2194-32A>T
n.598A>T
c.5163A>T (p.Ala1721=)
c.5118A>T (p.Ala1706=)
c.1316-32A>T
n.519A>T
n.590A>T
c.5190A>T (p.Ala1730=)
c.4242A>T (p.Ala1414=)
c.5418A>T (p.Ala1806=)
c.5307A>T (p.Ala1769=)
c.5229A>T (p.Ala1743=)
c.4881A>T (p.Ala1627=)
c.4506A>T (p.Ala1502=)
c.5313A>T (p.Ala1771=)
c.5415A>T (p.Ala1805=)
c.5358A>T (p.Ala1786=)
c.5334A>T (p.Ala1778=)
c.5289A>T (p.Ala1763=)
3g.53801181delCA2577794094CACNA1Dc.5224del (p.Ser1742ValfsTer25)
n.2194-31del
n.599del
c.5164del (p.Ser1722ValfsTer25)
c.5119del (p.Ser1707ValfsTer25)
c.1316-31del
n.520del
n.591del
c.5191del (p.Ser1731ValfsTer25)
c.4243del (p.Ser1415ValfsTer25)
c.5419del (p.Ser1807ValfsTer25)
c.5308del (p.Ser1770ValfsTer25)
c.5230del (p.Ser1744ValfsTer25)
c.4882del (p.Ser1628ValfsTer25)
c.4507del (p.Ser1503ValfsTer25)
c.5314del (p.Ser1772ValfsTer25)
c.5416del (p.Ser1806ValfsTer25)
c.5359del (p.Ser1787ValfsTer25)
c.5335del (p.Ser1779ValfsTer25)
c.5290del (p.Ser1764ValfsTer25)
3g.53801181A>CCA353250249CACNA1Dc.5224A>C (p.Ser1742Arg)
n.2194-31A>C
n.599A>C
c.5164A>C (p.Ser1722Arg)
c.5119A>C (p.Ser1707Arg)
c.1316-31A>C
n.520A>C
n.591A>C
c.5191A>C (p.Ser1731Arg)
c.4243A>C (p.Ser1415Arg)
c.5419A>C (p.Ser1807Arg)
c.5308A>C (p.Ser1770Arg)
c.5230A>C (p.Ser1744Arg)
c.4882A>C (p.Ser1628Arg)
c.4507A>C (p.Ser1503Arg)
c.5314A>C (p.Ser1772Arg)
c.5416A>C (p.Ser1806Arg)
c.5359A>C (p.Ser1787Arg)
c.5335A>C (p.Ser1779Arg)
c.5290A>C (p.Ser1764Arg)
3g.53801181A>GCA353250251CACNA1Dc.5224A>G (p.Ser1742Gly)
n.2194-31A>G
n.599A>G
c.5164A>G (p.Ser1722Gly)
c.5119A>G (p.Ser1707Gly)
c.1316-31A>G
n.520A>G
n.591A>G
c.5191A>G (p.Ser1731Gly)
c.4243A>G (p.Ser1415Gly)
c.5419A>G (p.Ser1807Gly)
c.5308A>G (p.Ser1770Gly)
c.5230A>G (p.Ser1744Gly)
c.4882A>G (p.Ser1628Gly)
c.4507A>G (p.Ser1503Gly)
c.5314A>G (p.Ser1772Gly)
c.5416A>G (p.Ser1806Gly)
c.5359A>G (p.Ser1787Gly)
c.5335A>G (p.Ser1779Gly)
c.5290A>G (p.Ser1764Gly)
3g.53801181A>TCA353250253CACNA1Dc.5224A>T (p.Ser1742Cys)
n.2194-31A>T
n.599A>T
c.5164A>T (p.Ser1722Cys)
c.5119A>T (p.Ser1707Cys)
c.1316-31A>T
n.520A>T
n.591A>T
c.5191A>T (p.Ser1731Cys)
c.4243A>T (p.Ser1415Cys)
c.5419A>T (p.Ser1807Cys)
c.5308A>T (p.Ser1770Cys)
c.5230A>T (p.Ser1744Cys)
c.4882A>T (p.Ser1628Cys)
c.4507A>T (p.Ser1503Cys)
c.5314A>T (p.Ser1772Cys)
c.5416A>T (p.Ser1806Cys)
c.5359A>T (p.Ser1787Cys)
c.5335A>T (p.Ser1779Cys)
c.5290A>T (p.Ser1764Cys)
3g.53801181_53801182insCCAAACACACCCAACACACA2756305509CACNA1Dc.5224_5225insCCAAACACACCCAACACA (p.Ala1741_Ser1742insThrLysHisThrGlnHis)
n.2194-31_2194-30insCCAAACACACCCAACACA
n.599_600insCCAAACACACCCAACACA
c.5164_5165insCCAAACACACCCAACACA (p.Ala1721_Ser1722insThrLysHisThrGlnHis)
c.5119_5120insCCAAACACACCCAACACA (p.Ala1706_Ser1707insThrLysHisThrGlnHis)
c.1316-31_1316-30insCCAAACACACCCAACACA
n.520_521insCCAAACACACCCAACACA
n.591_592insCCAAACACACCCAACACA
c.5191_5192insCCAAACACACCCAACACA (p.Ala1730_Ser1731insThrLysHisThrGlnHis)
c.4243_4244insCCAAACACACCCAACACA (p.Ala1414_Ser1415insThrLysHisThrGlnHis)
c.5419_5420insCCAAACACACCCAACACA (p.Ala1806_Ser1807insThrLysHisThrGlnHis)
c.5308_5309insCCAAACACACCCAACACA (p.Ala1769_Ser1770insThrLysHisThrGlnHis)
c.5230_5231insCCAAACACACCCAACACA (p.Ala1743_Ser1744insThrLysHisThrGlnHis)
c.4882_4883insCCAAACACACCCAACACA (p.Ala1627_Ser1628insThrLysHisThrGlnHis)
c.4507_4508insCCAAACACACCCAACACA (p.Ala1502_Ser1503insThrLysHisThrGlnHis)
c.5314_5315insCCAAACACACCCAACACA (p.Ala1771_Ser1772insThrLysHisThrGlnHis)
c.5416_5417insCCAAACACACCCAACACA (p.Ala1805_Ser1806insThrLysHisThrGlnHis)
c.5359_5360insCCAAACACACCCAACACA (p.Ala1786_Ser1787insThrLysHisThrGlnHis)
c.5335_5336insCCAAACACACCCAACACA (p.Ala1778_Ser1779insThrLysHisThrGlnHis)
c.5290_5291insCCAAACACACCCAACACA (p.Ala1763_Ser1764insThrLysHisThrGlnHis)
3g.53801182G>ACA353250258CACNA1Dc.5225G>A (p.Ser1742Asn)
n.2194-30G>A
n.600G>A
c.5165G>A (p.Ser1722Asn)
c.5120G>A (p.Ser1707Asn)
c.1316-30G>A
n.521G>A
n.592G>A
c.5192G>A (p.Ser1731Asn)
c.4244G>A (p.Ser1415Asn)
c.5420G>A (p.Ser1807Asn)
c.5309G>A (p.Ser1770Asn)
c.5231G>A (p.Ser1744Asn)
c.4883G>A (p.Ser1628Asn)
c.4508G>A (p.Ser1503Asn)
c.5315G>A (p.Ser1772Asn)
c.5417G>A (p.Ser1806Asn)
c.5360G>A (p.Ser1787Asn)
c.5336G>A (p.Ser1779Asn)
c.5291G>A (p.Ser1764Asn)
3g.53801182G>CCA2455084CACNA1Dc.5225G>C (p.Ser1742Thr)
n.2194-30G>C
n.600G>C
c.5165G>C (p.Ser1722Thr)
c.5120G>C (p.Ser1707Thr)
c.1316-30G>C
n.521G>C
n.592G>C
c.5192G>C (p.Ser1731Thr)
c.4244G>C (p.Ser1415Thr)
c.5420G>C (p.Ser1807Thr)
c.5309G>C (p.Ser1770Thr)
c.5231G>C (p.Ser1744Thr)
c.4883G>C (p.Ser1628Thr)
c.4508G>C (p.Ser1503Thr)
c.5315G>C (p.Ser1772Thr)
c.5417G>C (p.Ser1806Thr)
c.5360G>C (p.Ser1787Thr)
c.5336G>C (p.Ser1779Thr)
c.5291G>C (p.Ser1764Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.53801182G=CA1365484160CACNA1Dc.5225G= (p.Ser1742=)
n.2194-30G=
n.600G=
c.5165G= (p.Ser1722=)
c.5120G= (p.Ser1707=)
c.1316-30G=
n.521G=
n.592G=
c.5192G= (p.Ser1731=)
c.4244G= (p.Ser1415=)
c.5420G= (p.Ser1807=)
c.5309G= (p.Ser1770=)
c.5231G= (p.Ser1744=)
c.4883G= (p.Ser1628=)
c.4508G= (p.Ser1503=)
c.5315G= (p.Ser1772=)
c.5417G= (p.Ser1806=)
c.5360G= (p.Ser1787=)
c.5336G= (p.Ser1779=)
c.5291G= (p.Ser1764=)
3g.53801182G>TCA353250266CACNA1Dc.5225G>T (p.Ser1742Ile)
n.2194-30G>T
n.600G>T
c.5165G>T (p.Ser1722Ile)
c.5120G>T (p.Ser1707Ile)
c.1316-30G>T
n.521G>T
n.592G>T
c.5192G>T (p.Ser1731Ile)
c.4244G>T (p.Ser1415Ile)
c.5420G>T (p.Ser1807Ile)
c.5309G>T (p.Ser1770Ile)
c.5231G>T (p.Ser1744Ile)
c.4883G>T (p.Ser1628Ile)
c.4508G>T (p.Ser1503Ile)
c.5315G>T (p.Ser1772Ile)
c.5417G>T (p.Ser1806Ile)
c.5360G>T (p.Ser1787Ile)
c.5336G>T (p.Ser1779Ile)
c.5291G>T (p.Ser1764Ile)
3g.53801183T>ACA353250271CACNA1Dc.5226T>A (p.Ser1742Arg)
n.2194-29T>A
n.601T>A
c.5166T>A (p.Ser1722Arg)
c.5121T>A (p.Ser1707Arg)
c.1316-29T>A
n.522T>A
n.593T>A
c.5193T>A (p.Ser1731Arg)
c.4245T>A (p.Ser1415Arg)
c.5421T>A (p.Ser1807Arg)
c.5310T>A (p.Ser1770Arg)
c.5232T>A (p.Ser1744Arg)
c.4884T>A (p.Ser1628Arg)
c.4509T>A (p.Ser1503Arg)
c.5316T>A (p.Ser1772Arg)
c.5418T>A (p.Ser1806Arg)
c.5361T>A (p.Ser1787Arg)
c.5337T>A (p.Ser1779Arg)
c.5292T>A (p.Ser1764Arg)
3g.53801183T>CCA433895975CACNA1Dc.5226T>C (p.Ser1742=)
n.2194-29T>C
n.601T>C
c.5166T>C (p.Ser1722=)
c.5121T>C (p.Ser1707=)
c.1316-29T>C
n.522T>C
n.593T>C
c.5193T>C (p.Ser1731=)
c.4245T>C (p.Ser1415=)
c.5421T>C (p.Ser1807=)
c.5310T>C (p.Ser1770=)
c.5232T>C (p.Ser1744=)
c.4884T>C (p.Ser1628=)
c.4509T>C (p.Ser1503=)
c.5316T>C (p.Ser1772=)
c.5418T>C (p.Ser1806=)
c.5361T>C (p.Ser1787=)
c.5337T>C (p.Ser1779=)
c.5292T>C (p.Ser1764=)
3g.53801183T>GCA353250273CACNA1Dc.5226T>G (p.Ser1742Arg)
n.2194-29T>G
n.601T>G
c.5166T>G (p.Ser1722Arg)
c.5121T>G (p.Ser1707Arg)
c.1316-29T>G
n.522T>G
n.593T>G
c.5193T>G (p.Ser1731Arg)
c.4245T>G (p.Ser1415Arg)
c.5421T>G (p.Ser1807Arg)
c.5310T>G (p.Ser1770Arg)
c.5232T>G (p.Ser1744Arg)
c.4884T>G (p.Ser1628Arg)
c.4509T>G (p.Ser1503Arg)
c.5316T>G (p.Ser1772Arg)
c.5418T>G (p.Ser1806Arg)
c.5361T>G (p.Ser1787Arg)
c.5337T>G (p.Ser1779Arg)
c.5292T>G (p.Ser1764Arg)
 gnomAD v4
3g.53801184G>ACA353250283CACNA1Dc.5227G>A (p.Asp1743Asn)
n.2194-28G>A
n.602G>A
c.5167G>A (p.Asp1723Asn)
c.5122G>A (p.Asp1708Asn)
c.1316-28G>A
n.523G>A
n.594G>A
c.5194G>A (p.Asp1732Asn)
c.4246G>A (p.Asp1416Asn)
c.5422G>A (p.Asp1808Asn)
c.5311G>A (p.Asp1771Asn)
c.5233G>A (p.Asp1745Asn)
c.4885G>A (p.Asp1629Asn)
c.4510G>A (p.Asp1504Asn)
c.5317G>A (p.Asp1773Asn)
c.5419G>A (p.Asp1807Asn)
c.5362G>A (p.Asp1788Asn)
c.5338G>A (p.Asp1780Asn)
c.5293G>A (p.Asp1765Asn)
 COSMIC COSMIC
3g.53801184G>CCA353250279CACNA1Dc.5227G>C (p.Asp1743His)
n.2194-28G>C
n.602G>C
c.5167G>C (p.Asp1723His)
c.5122G>C (p.Asp1708His)
c.1316-28G>C
n.523G>C
n.594G>C
c.5194G>C (p.Asp1732His)
c.4246G>C (p.Asp1416His)
c.5422G>C (p.Asp1808His)
c.5311G>C (p.Asp1771His)
c.5233G>C (p.Asp1745His)
c.4885G>C (p.Asp1629His)
c.4510G>C (p.Asp1504His)
c.5317G>C (p.Asp1773His)
c.5419G>C (p.Asp1807His)
c.5362G>C (p.Asp1788His)
c.5338G>C (p.Asp1780His)
c.5293G>C (p.Asp1765His)
3g.53801184G>TCA353250277CACNA1Dc.5227G>T (p.Asp1743Tyr)
n.2194-28G>T
n.602G>T
c.5167G>T (p.Asp1723Tyr)
c.5122G>T (p.Asp1708Tyr)
c.1316-28G>T
n.523G>T
n.594G>T
c.5194G>T (p.Asp1732Tyr)
c.4246G>T (p.Asp1416Tyr)
c.5422G>T (p.Asp1808Tyr)
c.5311G>T (p.Asp1771Tyr)
c.5233G>T (p.Asp1745Tyr)
c.4885G>T (p.Asp1629Tyr)
c.4510G>T (p.Asp1504Tyr)
c.5317G>T (p.Asp1773Tyr)
c.5419G>T (p.Asp1807Tyr)
c.5362G>T (p.Asp1788Tyr)
c.5338G>T (p.Asp1780Tyr)
c.5293G>T (p.Asp1765Tyr)
3g.53801185A>CCA353250287CACNA1Dc.5228A>C (p.Asp1743Ala)
n.2194-27A>C
n.603A>C
c.5168A>C (p.Asp1723Ala)
c.5123A>C (p.Asp1708Ala)
c.1316-27A>C
n.524A>C
n.595A>C
c.5195A>C (p.Asp1732Ala)
c.4247A>C (p.Asp1416Ala)
c.5423A>C (p.Asp1808Ala)
c.5312A>C (p.Asp1771Ala)
c.5234A>C (p.Asp1745Ala)
c.4886A>C (p.Asp1629Ala)
c.4511A>C (p.Asp1504Ala)
c.5318A>C (p.Asp1773Ala)
c.5420A>C (p.Asp1807Ala)
c.5363A>C (p.Asp1788Ala)
c.5339A>C (p.Asp1780Ala)
c.5294A>C (p.Asp1765Ala)
3g.53801185A>GCA353250289CACNA1Dc.5228A>G (p.Asp1743Gly)
n.2194-27A>G
n.603A>G
c.5168A>G (p.Asp1723Gly)
c.5123A>G (p.Asp1708Gly)
c.1316-27A>G
n.524A>G
n.595A>G
c.5195A>G (p.Asp1732Gly)
c.4247A>G (p.Asp1416Gly)
c.5423A>G (p.Asp1808Gly)
c.5312A>G (p.Asp1771Gly)
c.5234A>G (p.Asp1745Gly)
c.4886A>G (p.Asp1629Gly)
c.4511A>G (p.Asp1504Gly)
c.5318A>G (p.Asp1773Gly)
c.5420A>G (p.Asp1807Gly)
c.5363A>G (p.Asp1788Gly)
c.5339A>G (p.Asp1780Gly)
c.5294A>G (p.Asp1765Gly)
3g.53801185A>TCA353250292CACNA1Dc.5228A>T (p.Asp1743Val)
n.2194-27A>T
n.603A>T
c.5168A>T (p.Asp1723Val)
c.5123A>T (p.Asp1708Val)
c.1316-27A>T
n.524A>T
n.595A>T
c.5195A>T (p.Asp1732Val)
c.4247A>T (p.Asp1416Val)
c.5423A>T (p.Asp1808Val)
c.5312A>T (p.Asp1771Val)
c.5234A>T (p.Asp1745Val)
c.4886A>T (p.Asp1629Val)
c.4511A>T (p.Asp1504Val)
c.5318A>T (p.Asp1773Val)
c.5420A>T (p.Asp1807Val)
c.5363A>T (p.Asp1788Val)
c.5339A>T (p.Asp1780Val)
c.5294A>T (p.Asp1765Val)
3g.53801186T>ACA353250295CACNA1Dc.5229T>A (p.Asp1743Glu)
n.2194-26T>A
n.604T>A
c.5169T>A (p.Asp1723Glu)
c.5124T>A (p.Asp1708Glu)
c.1316-26T>A
n.525T>A
n.596T>A
c.5196T>A (p.Asp1732Glu)
c.4248T>A (p.Asp1416Glu)
c.5424T>A (p.Asp1808Glu)
c.5313T>A (p.Asp1771Glu)
c.5235T>A (p.Asp1745Glu)
c.4887T>A (p.Asp1629Glu)
c.4512T>A (p.Asp1504Glu)
c.5319T>A (p.Asp1773Glu)
c.5421T>A (p.Asp1807Glu)
c.5364T>A (p.Asp1788Glu)
c.5340T>A (p.Asp1780Glu)
c.5295T>A (p.Asp1765Glu)
3g.53801186T>CCA2455085CACNA1Dc.5229T>C (p.Asp1743=)
n.2194-26T>C
n.604T>C
c.5169T>C (p.Asp1723=)
c.5124T>C (p.Asp1708=)
c.1316-26T>C
n.525T>C
n.596T>C
c.5196T>C (p.Asp1732=)
c.4248T>C (p.Asp1416=)
c.5424T>C (p.Asp1808=)
c.5313T>C (p.Asp1771=)
c.5235T>C (p.Asp1745=)
c.4887T>C (p.Asp1629=)
c.4512T>C (p.Asp1504=)
c.5319T>C (p.Asp1773=)
c.5421T>C (p.Asp1807=)
c.5364T>C (p.Asp1788=)
c.5340T>C (p.Asp1780=)
c.5295T>C (p.Asp1765=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.53801186T>GCA353250301CACNA1Dc.5229T>G (p.Asp1743Glu)
n.2194-26T>G
n.604T>G
c.5169T>G (p.Asp1723Glu)
c.5124T>G (p.Asp1708Glu)
c.1316-26T>G
n.525T>G
n.596T>G
c.5196T>G (p.Asp1732Glu)
c.4248T>G (p.Asp1416Glu)
c.5424T>G (p.Asp1808Glu)
c.5313T>G (p.Asp1771Glu)
c.5235T>G (p.Asp1745Glu)
c.4887T>G (p.Asp1629Glu)
c.4512T>G (p.Asp1504Glu)
c.5319T>G (p.Asp1773Glu)
c.5421T>G (p.Asp1807Glu)
c.5364T>G (p.Asp1788Glu)
c.5340T>G (p.Asp1780Glu)
c.5295T>G (p.Asp1765Glu)
3g.53801186T=CA1365484161CACNA1Dc.5229T= (p.Asp1743=)
n.2194-26T=
n.604T=
c.5169T= (p.Asp1723=)
c.5124T= (p.Asp1708=)
c.1316-26T=
n.525T=
n.596T=
c.5196T= (p.Asp1732=)
c.4248T= (p.Asp1416=)
c.5424T= (p.Asp1808=)
c.5313T= (p.Asp1771=)
c.5235T= (p.Asp1745=)
c.4887T= (p.Asp1629=)
c.4512T= (p.Asp1504=)
c.5319T= (p.Asp1773=)
c.5421T= (p.Asp1807=)
c.5364T= (p.Asp1788=)
c.5340T= (p.Asp1780=)
c.5295T= (p.Asp1765=)
3g.53801187A>CCA353250305CACNA1Dc.5230A>C (p.Thr1744Pro)
n.2194-25A>C
n.605A>C
c.5170A>C (p.Thr1724Pro)
c.5125A>C (p.Thr1709Pro)
c.1316-25A>C
n.526A>C
n.597A>C
c.5197A>C (p.Thr1733Pro)
c.4249A>C (p.Thr1417Pro)
c.5425A>C (p.Thr1809Pro)
c.5314A>C (p.Thr1772Pro)
c.5236A>C (p.Thr1746Pro)
c.4888A>C (p.Thr1630Pro)
c.4513A>C (p.Thr1505Pro)
c.5320A>C (p.Thr1774Pro)
c.5422A>C (p.Thr1808Pro)
c.5365A>C (p.Thr1789Pro)
c.5341A>C (p.Thr1781Pro)
c.5296A>C (p.Thr1766Pro)
3g.53801187A>GCA353250308CACNA1Dc.5230A>G (p.Thr1744Ala)
n.2194-25A>G
n.605A>G
c.5170A>G (p.Thr1724Ala)
c.5125A>G (p.Thr1709Ala)
c.1316-25A>G
n.526A>G
n.597A>G
c.5197A>G (p.Thr1733Ala)
c.4249A>G (p.Thr1417Ala)
c.5425A>G (p.Thr1809Ala)
c.5314A>G (p.Thr1772Ala)
c.5236A>G (p.Thr1746Ala)
c.4888A>G (p.Thr1630Ala)
c.4513A>G (p.Thr1505Ala)
c.5320A>G (p.Thr1774Ala)
c.5422A>G (p.Thr1808Ala)
c.5365A>G (p.Thr1789Ala)
c.5341A>G (p.Thr1781Ala)
c.5296A>G (p.Thr1766Ala)
 gnomAD v4
3g.53801187A>TCA353250309CACNA1Dc.5230A>T (p.Thr1744Ser)
n.2194-25A>T
n.605A>T
c.5170A>T (p.Thr1724Ser)
c.5125A>T (p.Thr1709Ser)
c.1316-25A>T
n.526A>T
n.597A>T
c.5197A>T (p.Thr1733Ser)
c.4249A>T (p.Thr1417Ser)
c.5425A>T (p.Thr1809Ser)
c.5314A>T (p.Thr1772Ser)
c.5236A>T (p.Thr1746Ser)
c.4888A>T (p.Thr1630Ser)
c.4513A>T (p.Thr1505Ser)
c.5320A>T (p.Thr1774Ser)
c.5422A>T (p.Thr1808Ser)
c.5365A>T (p.Thr1789Ser)
c.5341A>T (p.Thr1781Ser)
c.5296A>T (p.Thr1766Ser)
3g.53801188C>ACA353250318CACNA1Dc.5231C>A (p.Thr1744Asn)
n.2194-24C>A
n.606C>A
c.5171C>A (p.Thr1724Asn)
c.5126C>A (p.Thr1709Asn)
c.1316-24C>A
n.527C>A
n.598C>A
c.5198C>A (p.Thr1733Asn)
c.4250C>A (p.Thr1417Asn)
c.5426C>A (p.Thr1809Asn)
c.5315C>A (p.Thr1772Asn)
c.5237C>A (p.Thr1746Asn)
c.4889C>A (p.Thr1630Asn)
c.4514C>A (p.Thr1505Asn)
c.5321C>A (p.Thr1774Asn)
c.5423C>A (p.Thr1808Asn)
c.5366C>A (p.Thr1789Asn)
c.5342C>A (p.Thr1781Asn)
c.5297C>A (p.Thr1766Asn)
3g.53801188C>GCA353250320CACNA1Dc.5231C>G (p.Thr1744Ser)
n.2194-24C>G
n.606C>G
c.5171C>G (p.Thr1724Ser)
c.5126C>G (p.Thr1709Ser)
c.1316-24C>G
n.527C>G
n.598C>G
c.5198C>G (p.Thr1733Ser)
c.4250C>G (p.Thr1417Ser)
c.5426C>G (p.Thr1809Ser)
c.5315C>G (p.Thr1772Ser)
c.5237C>G (p.Thr1746Ser)
c.4889C>G (p.Thr1630Ser)
c.4514C>G (p.Thr1505Ser)
c.5321C>G (p.Thr1774Ser)
c.5423C>G (p.Thr1808Ser)
c.5366C>G (p.Thr1789Ser)
c.5342C>G (p.Thr1781Ser)
c.5297C>G (p.Thr1766Ser)
3g.53801188C>TCA353250324CACNA1Dc.5231C>T (p.Thr1744Ile)
n.2194-24C>T
n.606C>T
c.5171C>T (p.Thr1724Ile)
c.5126C>T (p.Thr1709Ile)
c.1316-24C>T
n.527C>T
n.598C>T
c.5198C>T (p.Thr1733Ile)
c.4250C>T (p.Thr1417Ile)
c.5426C>T (p.Thr1809Ile)
c.5315C>T (p.Thr1772Ile)
c.5237C>T (p.Thr1746Ile)
c.4889C>T (p.Thr1630Ile)
c.4514C>T (p.Thr1505Ile)
c.5321C>T (p.Thr1774Ile)
c.5423C>T (p.Thr1808Ile)
c.5366C>T (p.Thr1789Ile)
c.5342C>T (p.Thr1781Ile)
c.5297C>T (p.Thr1766Ile)
3g.53801189T>ACA433895991CACNA1Dc.5232T>A (p.Thr1744=)
n.2194-23T>A
n.607T>A
c.5172T>A (p.Thr1724=)
c.5127T>A (p.Thr1709=)
c.1316-23T>A
n.528T>A
n.599T>A
c.5199T>A (p.Thr1733=)
c.4251T>A (p.Thr1417=)
c.5427T>A (p.Thr1809=)
c.5316T>A (p.Thr1772=)
c.5238T>A (p.Thr1746=)
c.4890T>A (p.Thr1630=)
c.4515T>A (p.Thr1505=)
c.5322T>A (p.Thr1774=)
c.5424T>A (p.Thr1808=)
c.5367T>A (p.Thr1789=)
c.5343T>A (p.Thr1781=)
c.5298T>A (p.Thr1766=)
3g.53801189T>CCA433895993CACNA1Dc.5232T>C (p.Thr1744=)
n.2194-23T>C
n.607T>C
c.5172T>C (p.Thr1724=)
c.5127T>C (p.Thr1709=)
c.1316-23T>C
n.528T>C
n.599T>C
c.5199T>C (p.Thr1733=)
c.4251T>C (p.Thr1417=)
c.5427T>C (p.Thr1809=)
c.5316T>C (p.Thr1772=)
c.5238T>C (p.Thr1746=)
c.4890T>C (p.Thr1630=)
c.4515T>C (p.Thr1505=)
c.5322T>C (p.Thr1774=)
c.5424T>C (p.Thr1808=)
c.5367T>C (p.Thr1789=)
c.5343T>C (p.Thr1781=)
c.5298T>C (p.Thr1766=)
3g.53801189T>GCA433895994CACNA1Dc.5232T>G (p.Thr1744=)
n.2194-23T>G
n.607T>G
c.5172T>G (p.Thr1724=)
c.5127T>G (p.Thr1709=)
c.1316-23T>G
n.528T>G
n.599T>G
c.5199T>G (p.Thr1733=)
c.4251T>G (p.Thr1417=)
c.5427T>G (p.Thr1809=)
c.5316T>G (p.Thr1772=)
c.5238T>G (p.Thr1746=)
c.4890T>G (p.Thr1630=)
c.4515T>G (p.Thr1505=)
c.5322T>G (p.Thr1774=)
c.5424T>G (p.Thr1808=)
c.5367T>G (p.Thr1789=)
c.5343T>G (p.Thr1781=)
c.5298T>G (p.Thr1766=)
3g.53801190G>ACA353250333CACNA1Dc.5233G>A (p.Glu1745Lys)
n.2194-22G>A
n.608G>A
c.5173G>A (p.Glu1725Lys)
c.5128G>A (p.Glu1710Lys)
c.1316-22G>A
n.529G>A
n.600G>A
c.5200G>A (p.Glu1734Lys)
c.4252G>A (p.Glu1418Lys)
c.5428G>A (p.Glu1810Lys)
c.5317G>A (p.Glu1773Lys)
c.5239G>A (p.Glu1747Lys)
c.4891G>A (p.Glu1631Lys)
c.4516G>A (p.Glu1506Lys)
c.5323G>A (p.Glu1775Lys)
c.5425G>A (p.Glu1809Lys)
c.5368G>A (p.Glu1790Lys)
c.5344G>A (p.Glu1782Lys)
c.5299G>A (p.Glu1767Lys)
3g.53801190G>CCA353250331CACNA1Dc.5233G>C (p.Glu1745Gln)
n.2194-22G>C
n.608G>C
c.5173G>C (p.Glu1725Gln)
c.5128G>C (p.Glu1710Gln)
c.1316-22G>C
n.529G>C
n.600G>C
c.5200G>C (p.Glu1734Gln)
c.4252G>C (p.Glu1418Gln)
c.5428G>C (p.Glu1810Gln)
c.5317G>C (p.Glu1773Gln)
c.5239G>C (p.Glu1747Gln)
c.4891G>C (p.Glu1631Gln)
c.4516G>C (p.Glu1506Gln)
c.5323G>C (p.Glu1775Gln)
c.5425G>C (p.Glu1809Gln)
c.5368G>C (p.Glu1790Gln)
c.5344G>C (p.Glu1782Gln)
c.5299G>C (p.Glu1767Gln)
3g.53801190G>TCA353250329CACNA1Dc.5233G>T (p.Glu1745Ter)
n.2194-22G>T
n.608G>T
c.5173G>T (p.Glu1725Ter)
c.5128G>T (p.Glu1710Ter)
c.1316-22G>T
n.529G>T
n.600G>T
c.5200G>T (p.Glu1734Ter)
c.4252G>T (p.Glu1418Ter)
c.5428G>T (p.Glu1810Ter)
c.5317G>T (p.Glu1773Ter)
c.5239G>T (p.Glu1747Ter)
c.4891G>T (p.Glu1631Ter)
c.4516G>T (p.Glu1506Ter)
c.5323G>T (p.Glu1775Ter)
c.5425G>T (p.Glu1809Ter)
c.5368G>T (p.Glu1790Ter)
c.5344G>T (p.Glu1782Ter)
c.5299G>T (p.Glu1767Ter)
3g.53801191A>CCA353250337CACNA1Dc.5234A>C (p.Glu1745Ala)
n.2194-21A>C
n.609A>C
c.5174A>C (p.Glu1725Ala)
c.5129A>C (p.Glu1710Ala)
c.1316-21A>C
n.530A>C
n.601A>C
c.5201A>C (p.Glu1734Ala)
c.4253A>C (p.Glu1418Ala)
c.5429A>C (p.Glu1810Ala)
c.5318A>C (p.Glu1773Ala)
c.5240A>C (p.Glu1747Ala)
c.4892A>C (p.Glu1631Ala)
c.4517A>C (p.Glu1506Ala)
c.5324A>C (p.Glu1775Ala)
c.5426A>C (p.Glu1809Ala)
c.5369A>C (p.Glu1790Ala)
c.5345A>C (p.Glu1782Ala)
c.5300A>C (p.Glu1767Ala)
3g.53801191A>GCA353250344CACNA1Dc.5234A>G (p.Glu1745Gly)
n.2194-21A>G
n.609A>G
c.5174A>G (p.Glu1725Gly)
c.5129A>G (p.Glu1710Gly)
c.1316-21A>G
n.530A>G
n.601A>G
c.5201A>G (p.Glu1734Gly)
c.4253A>G (p.Glu1418Gly)
c.5429A>G (p.Glu1810Gly)
c.5318A>G (p.Glu1773Gly)
c.5240A>G (p.Glu1747Gly)
c.4892A>G (p.Glu1631Gly)
c.4517A>G (p.Glu1506Gly)
c.5324A>G (p.Glu1775Gly)
c.5426A>G (p.Glu1809Gly)
c.5369A>G (p.Glu1790Gly)
c.5345A>G (p.Glu1782Gly)
c.5300A>G (p.Glu1767Gly)
3g.53801191A>TCA353250354CACNA1Dc.5234A>T (p.Glu1745Val)
n.2194-21A>T
n.609A>T
c.5174A>T (p.Glu1725Val)
c.5129A>T (p.Glu1710Val)
c.1316-21A>T
n.530A>T
n.601A>T
c.5201A>T (p.Glu1734Val)
c.4253A>T (p.Glu1418Val)
c.5429A>T (p.Glu1810Val)
c.5318A>T (p.Glu1773Val)
c.5240A>T (p.Glu1747Val)
c.4892A>T (p.Glu1631Val)
c.4517A>T (p.Glu1506Val)
c.5324A>T (p.Glu1775Val)
c.5426A>T (p.Glu1809Val)
c.5369A>T (p.Glu1790Val)
c.5345A>T (p.Glu1782Val)
c.5300A>T (p.Glu1767Val)
3g.53801192G>ACA433895999CACNA1Dc.5235G>A (p.Glu1745=)
n.2194-20G>A
n.610G>A
c.5175G>A (p.Glu1725=)
c.5130G>A (p.Glu1710=)
c.1316-20G>A
n.531G>A
n.602G>A
c.5202G>A (p.Glu1734=)
c.4254G>A (p.Glu1418=)
c.5430G>A (p.Glu1810=)
c.5319G>A (p.Glu1773=)
c.5241G>A (p.Glu1747=)
c.4893G>A (p.Glu1631=)
c.4518G>A (p.Glu1506=)
c.5325G>A (p.Glu1775=)
c.5427G>A (p.Glu1809=)
c.5370G>A (p.Glu1790=)
c.5346G>A (p.Glu1782=)
c.5301G>A (p.Glu1767=)
3g.53801192G>CCA353250357CACNA1Dc.5235G>C (p.Glu1745Asp)
n.2194-20G>C
n.610G>C
c.5175G>C (p.Glu1725Asp)
c.5130G>C (p.Glu1710Asp)
c.1316-20G>C
n.531G>C
n.602G>C
c.5202G>C (p.Glu1734Asp)
c.4254G>C (p.Glu1418Asp)
c.5430G>C (p.Glu1810Asp)
c.5319G>C (p.Glu1773Asp)
c.5241G>C (p.Glu1747Asp)
c.4893G>C (p.Glu1631Asp)
c.4518G>C (p.Glu1506Asp)
c.5325G>C (p.Glu1775Asp)
c.5427G>C (p.Glu1809Asp)
c.5370G>C (p.Glu1790Asp)
c.5346G>C (p.Glu1782Asp)
c.5301G>C (p.Glu1767Asp)
3g.53801192G>TCA353250360CACNA1Dc.5235G>T (p.Glu1745Asp)
n.2194-20G>T
n.610G>T
c.5175G>T (p.Glu1725Asp)
c.5130G>T (p.Glu1710Asp)
c.1316-20G>T
n.531G>T
n.602G>T
c.5202G>T (p.Glu1734Asp)
c.4254G>T (p.Glu1418Asp)
c.5430G>T (p.Glu1810Asp)
c.5319G>T (p.Glu1773Asp)
c.5241G>T (p.Glu1747Asp)
c.4893G>T (p.Glu1631Asp)
c.4518G>T (p.Glu1506Asp)
c.5325G>T (p.Glu1775Asp)
c.5427G>T (p.Glu1809Asp)
c.5370G>T (p.Glu1790Asp)
c.5346G>T (p.Glu1782Asp)
c.5301G>T (p.Glu1767Asp)
3g.53801193A>CCA353250363CACNA1Dc.5236A>C (p.Lys1746Gln)
n.2194-19A>C
n.611A>C
c.5176A>C (p.Lys1726Gln)
c.5131A>C (p.Lys1711Gln)
c.1316-19A>C
n.532A>C
n.603A>C
c.5203A>C (p.Lys1735Gln)
c.4255A>C (p.Lys1419Gln)
c.5431A>C (p.Lys1811Gln)
c.5320A>C (p.Lys1774Gln)
c.5242A>C (p.Lys1748Gln)
c.4894A>C (p.Lys1632Gln)
c.4519A>C (p.Lys1507Gln)
c.5326A>C (p.Lys1776Gln)
c.5428A>C (p.Lys1810Gln)
c.5371A>C (p.Lys1791Gln)
c.5347A>C (p.Lys1783Gln)
c.5302A>C (p.Lys1768Gln)
3g.53801193A>GCA353250368CACNA1Dc.5236A>G (p.Lys1746Glu)
n.2194-19A>G
n.611A>G
c.5176A>G (p.Lys1726Glu)
c.5131A>G (p.Lys1711Glu)
c.1316-19A>G
n.532A>G
n.603A>G
c.5203A>G (p.Lys1735Glu)
c.4255A>G (p.Lys1419Glu)
c.5431A>G (p.Lys1811Glu)
c.5320A>G (p.Lys1774Glu)
c.5242A>G (p.Lys1748Glu)
c.4894A>G (p.Lys1632Glu)
c.4519A>G (p.Lys1507Glu)
c.5326A>G (p.Lys1776Glu)
c.5428A>G (p.Lys1810Glu)
c.5371A>G (p.Lys1791Glu)
c.5347A>G (p.Lys1783Glu)
c.5302A>G (p.Lys1768Glu)
3g.53801193A>TCA353250370CACNA1Dc.5236A>T (p.Lys1746Ter)
n.2194-19A>T
n.611A>T
c.5176A>T (p.Lys1726Ter)
c.5131A>T (p.Lys1711Ter)
c.1316-19A>T
n.532A>T
n.603A>T
c.5203A>T (p.Lys1735Ter)
c.4255A>T (p.Lys1419Ter)
c.5431A>T (p.Lys1811Ter)
c.5320A>T (p.Lys1774Ter)
c.5242A>T (p.Lys1748Ter)
c.4894A>T (p.Lys1632Ter)
c.4519A>T (p.Lys1507Ter)
c.5326A>T (p.Lys1776Ter)
c.5428A>T (p.Lys1810Ter)
c.5371A>T (p.Lys1791Ter)
c.5347A>T (p.Lys1783Ter)
c.5302A>T (p.Lys1768Ter)
3g.53801194A>CCA353250374CACNA1Dc.5237A>C (p.Lys1746Thr)
n.2194-18A>C
n.612A>C
c.5177A>C (p.Lys1726Thr)
c.5132A>C (p.Lys1711Thr)
c.1316-18A>C
n.533A>C
n.604A>C
c.5204A>C (p.Lys1735Thr)
c.4256A>C (p.Lys1419Thr)
c.5432A>C (p.Lys1811Thr)
c.5321A>C (p.Lys1774Thr)
c.5243A>C (p.Lys1748Thr)
c.4895A>C (p.Lys1632Thr)
c.4520A>C (p.Lys1507Thr)
c.5327A>C (p.Lys1776Thr)
c.5429A>C (p.Lys1810Thr)
c.5372A>C (p.Lys1791Thr)
c.5348A>C (p.Lys1783Thr)
c.5303A>C (p.Lys1768Thr)
3g.53801194A>GCA353250378CACNA1Dc.5237A>G (p.Lys1746Arg)
n.2194-18A>G
n.612A>G
c.5177A>G (p.Lys1726Arg)
c.5132A>G (p.Lys1711Arg)
c.1316-18A>G
n.533A>G
n.604A>G
c.5204A>G (p.Lys1735Arg)
c.4256A>G (p.Lys1419Arg)
c.5432A>G (p.Lys1811Arg)
c.5321A>G (p.Lys1774Arg)
c.5243A>G (p.Lys1748Arg)
c.4895A>G (p.Lys1632Arg)
c.4520A>G (p.Lys1507Arg)
c.5327A>G (p.Lys1776Arg)
c.5429A>G (p.Lys1810Arg)
c.5372A>G (p.Lys1791Arg)
c.5348A>G (p.Lys1783Arg)
c.5303A>G (p.Lys1768Arg)
3g.53801194A>TCA353250380CACNA1Dc.5237A>T (p.Lys1746Ile)
n.2194-18A>T
n.612A>T
c.5177A>T (p.Lys1726Ile)
c.5132A>T (p.Lys1711Ile)
c.1316-18A>T
n.533A>T
n.604A>T
c.5204A>T (p.Lys1735Ile)
c.4256A>T (p.Lys1419Ile)
c.5432A>T (p.Lys1811Ile)
c.5321A>T (p.Lys1774Ile)
c.5243A>T (p.Lys1748Ile)
c.4895A>T (p.Lys1632Ile)
c.4520A>T (p.Lys1507Ile)
c.5327A>T (p.Lys1776Ile)
c.5429A>T (p.Lys1810Ile)
c.5372A>T (p.Lys1791Ile)
c.5348A>T (p.Lys1783Ile)
c.5303A>T (p.Lys1768Ile)
3g.53801195A>CCA353250383CACNA1Dc.5238A>C (p.Lys1746Asn)
n.2194-17A>C
n.613A>C
c.5178A>C (p.Lys1726Asn)
c.5133A>C (p.Lys1711Asn)
c.1316-17A>C
n.534A>C
n.605A>C
c.5205A>C (p.Lys1735Asn)
c.4257A>C (p.Lys1419Asn)
c.5433A>C (p.Lys1811Asn)
c.5322A>C (p.Lys1774Asn)
c.5244A>C (p.Lys1748Asn)
c.4896A>C (p.Lys1632Asn)
c.4521A>C (p.Lys1507Asn)
c.5328A>C (p.Lys1776Asn)
c.5430A>C (p.Lys1810Asn)
c.5373A>C (p.Lys1791Asn)
c.5349A>C (p.Lys1783Asn)
c.5304A>C (p.Lys1768Asn)
3g.53801195A>GCA433896006CACNA1Dc.5238A>G (p.Lys1746=)
n.2194-17A>G
n.613A>G
c.5178A>G (p.Lys1726=)
c.5133A>G (p.Lys1711=)
c.1316-17A>G
n.534A>G
n.605A>G
c.5205A>G (p.Lys1735=)
c.4257A>G (p.Lys1419=)
c.5433A>G (p.Lys1811=)
c.5322A>G (p.Lys1774=)
c.5244A>G (p.Lys1748=)
c.4896A>G (p.Lys1632=)
c.4521A>G (p.Lys1507=)
c.5328A>G (p.Lys1776=)
c.5430A>G (p.Lys1810=)
c.5373A>G (p.Lys1791=)
c.5349A>G (p.Lys1783=)
c.5304A>G (p.Lys1768=)
3g.53801195A>TCA353250386CACNA1Dc.5238A>T (p.Lys1746Asn)
n.2194-17A>T
n.613A>T
c.5178A>T (p.Lys1726Asn)
c.5133A>T (p.Lys1711Asn)
c.1316-17A>T
n.534A>T
n.605A>T
c.5205A>T (p.Lys1735Asn)
c.4257A>T (p.Lys1419Asn)
c.5433A>T (p.Lys1811Asn)
c.5322A>T (p.Lys1774Asn)
c.5244A>T (p.Lys1748Asn)
c.4896A>T (p.Lys1632Asn)
c.4521A>T (p.Lys1507Asn)
c.5328A>T (p.Lys1776Asn)
c.5430A>T (p.Lys1810Asn)
c.5373A>T (p.Lys1791Asn)
c.5349A>T (p.Lys1783Asn)
c.5304A>T (p.Lys1768Asn)
3g.53801196C>ACA353250391CACNA1Dc.5239C>A (p.Pro1747Thr)
n.2194-16C>A
n.614C>A
c.5179C>A (p.Pro1727Thr)
c.5134C>A (p.Pro1712Thr)
c.1316-16C>A
n.535C>A
n.606C>A
c.5206C>A (p.Pro1736Thr)
c.4258C>A (p.Pro1420Thr)
c.5434C>A (p.Pro1812Thr)
c.5323C>A (p.Pro1775Thr)
c.5245C>A (p.Pro1749Thr)
c.4897C>A (p.Pro1633Thr)
c.4522C>A (p.Pro1508Thr)
c.5329C>A (p.Pro1777Thr)
c.5431C>A (p.Pro1811Thr)
c.5374C>A (p.Pro1792Thr)
c.5350C>A (p.Pro1784Thr)
c.5305C>A (p.Pro1769Thr)
3g.53801196C>GCA353250395CACNA1Dc.5239C>G (p.Pro1747Ala)
n.2194-16C>G
n.614C>G
c.5179C>G (p.Pro1727Ala)
c.5134C>G (p.Pro1712Ala)
c.1316-16C>G
n.535C>G
n.606C>G
c.5206C>G (p.Pro1736Ala)
c.4258C>G (p.Pro1420Ala)
c.5434C>G (p.Pro1812Ala)
c.5323C>G (p.Pro1775Ala)
c.5245C>G (p.Pro1749Ala)
c.4897C>G (p.Pro1633Ala)
c.4522C>G (p.Pro1508Ala)
c.5329C>G (p.Pro1777Ala)
c.5431C>G (p.Pro1811Ala)
c.5374C>G (p.Pro1792Ala)
c.5350C>G (p.Pro1784Ala)
c.5305C>G (p.Pro1769Ala)
3g.53801196C>TCA353250389CACNA1Dc.5239C>T (p.Pro1747Ser)
n.2194-16C>T
n.614C>T
c.5179C>T (p.Pro1727Ser)
c.5134C>T (p.Pro1712Ser)
c.1316-16C>T
n.535C>T
n.606C>T
c.5206C>T (p.Pro1736Ser)
c.4258C>T (p.Pro1420Ser)
c.5434C>T (p.Pro1812Ser)
c.5323C>T (p.Pro1775Ser)
c.5245C>T (p.Pro1749Ser)
c.4897C>T (p.Pro1633Ser)
c.4522C>T (p.Pro1508Ser)
c.5329C>T (p.Pro1777Ser)
c.5431C>T (p.Pro1811Ser)
c.5374C>T (p.Pro1792Ser)
c.5350C>T (p.Pro1784Ser)
c.5305C>T (p.Pro1769Ser)
3g.53801197C>ACA353250398CACNA1Dc.5240C>A (p.Pro1747Gln)
n.2194-15C>A
n.615C>A
c.5180C>A (p.Pro1727Gln)
c.5135C>A (p.Pro1712Gln)
c.1316-15C>A
n.536C>A
n.607C>A
c.5207C>A (p.Pro1736Gln)
c.4259C>A (p.Pro1420Gln)
c.5435C>A (p.Pro1812Gln)
c.5324C>A (p.Pro1775Gln)
c.5246C>A (p.Pro1749Gln)
c.4898C>A (p.Pro1633Gln)
c.4523C>A (p.Pro1508Gln)
c.5330C>A (p.Pro1777Gln)
c.5432C>A (p.Pro1811Gln)
c.5375C>A (p.Pro1792Gln)
c.5351C>A (p.Pro1784Gln)
c.5306C>A (p.Pro1769Gln)
3g.53801197C=CA1365484162CACNA1Dc.5240C= (p.Pro1747=)
n.2194-15C=
n.615C=
c.5180C= (p.Pro1727=)
c.5135C= (p.Pro1712=)
c.1316-15C=
n.536C=
n.607C=
c.5207C= (p.Pro1736=)
c.4259C= (p.Pro1420=)
c.5435C= (p.Pro1812=)
c.5324C= (p.Pro1775=)
c.5246C= (p.Pro1749=)
c.4898C= (p.Pro1633=)
c.4523C= (p.Pro1508=)
c.5330C= (p.Pro1777=)
c.5432C= (p.Pro1811=)
c.5375C= (p.Pro1792=)
c.5351C= (p.Pro1784=)
c.5306C= (p.Pro1769=)
3g.53801197C>GCA353250405CACNA1Dc.5240C>G (p.Pro1747Arg)
n.2194-15C>G
n.615C>G
c.5180C>G (p.Pro1727Arg)
c.5135C>G (p.Pro1712Arg)
c.1316-15C>G
n.536C>G
n.607C>G
c.5207C>G (p.Pro1736Arg)
c.4259C>G (p.Pro1420Arg)
c.5435C>G (p.Pro1812Arg)
c.5324C>G (p.Pro1775Arg)
c.5246C>G (p.Pro1749Arg)
c.4898C>G (p.Pro1633Arg)
c.4523C>G (p.Pro1508Arg)
c.5330C>G (p.Pro1777Arg)
c.5432C>G (p.Pro1811Arg)
c.5375C>G (p.Pro1792Arg)
c.5351C>G (p.Pro1784Arg)
c.5306C>G (p.Pro1769Arg)
3g.53801197C>TCA2455086CACNA1Dc.5240C>T (p.Pro1747Leu)
n.2194-15C>T
n.615C>T
c.5180C>T (p.Pro1727Leu)
c.5135C>T (p.Pro1712Leu)
c.1316-15C>T
n.536C>T
n.607C>T
c.5207C>T (p.Pro1736Leu)
c.4259C>T (p.Pro1420Leu)
c.5435C>T (p.Pro1812Leu)
c.5324C>T (p.Pro1775Leu)
c.5246C>T (p.Pro1749Leu)
c.4898C>T (p.Pro1633Leu)
c.4523C>T (p.Pro1508Leu)
c.5330C>T (p.Pro1777Leu)
c.5432C>T (p.Pro1811Leu)
c.5375C>T (p.Pro1792Leu)
c.5351C>T (p.Pro1784Leu)
c.5306C>T (p.Pro1769Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.53801198G>ACA2455087CACNA1Dc.5241G>A (p.Pro1747=)
n.2194-14G>A
n.616G>A
c.5181G>A (p.Pro1727=)
c.5136G>A (p.Pro1712=)
c.1316-14G>A
n.537G>A
n.608G>A
c.5208G>A (p.Pro1736=)
c.4260G>A (p.Pro1420=)
c.5436G>A (p.Pro1812=)
c.5325G>A (p.Pro1775=)
c.5247G>A (p.Pro1749=)
c.4899G>A (p.Pro1633=)
c.4524G>A (p.Pro1508=)
c.5331G>A (p.Pro1777=)
c.5433G>A (p.Pro1811=)
c.5376G>A (p.Pro1792=)
c.5352G>A (p.Pro1784=)
c.5307G>A (p.Pro1769=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
3g.53801198G>CCA433896010CACNA1Dc.5241G>C (p.Pro1747=)
n.2194-14G>C
n.616G>C
c.5181G>C (p.Pro1727=)
c.5136G>C (p.Pro1712=)
c.1316-14G>C
n.537G>C
n.608G>C
c.5208G>C (p.Pro1736=)
c.4260G>C (p.Pro1420=)
c.5436G>C (p.Pro1812=)
c.5325G>C (p.Pro1775=)
c.5247G>C (p.Pro1749=)
c.4899G>C (p.Pro1633=)
c.4524G>C (p.Pro1508=)
c.5331G>C (p.Pro1777=)
c.5433G>C (p.Pro1811=)
c.5376G>C (p.Pro1792=)
c.5352G>C (p.Pro1784=)
c.5307G>C (p.Pro1769=)
3g.53801198G=CA1365484163CACNA1Dc.5241G= (p.Pro1747=)
n.2194-14G=
n.616G=
c.5181G= (p.Pro1727=)
c.5136G= (p.Pro1712=)
c.1316-14G=
n.537G=
n.608G=
c.5208G= (p.Pro1736=)
c.4260G= (p.Pro1420=)
c.5436G= (p.Pro1812=)
c.5325G= (p.Pro1775=)
c.5247G= (p.Pro1749=)
c.4899G= (p.Pro1633=)
c.4524G= (p.Pro1508=)
c.5331G= (p.Pro1777=)
c.5433G= (p.Pro1811=)
c.5376G= (p.Pro1792=)
c.5352G= (p.Pro1784=)
c.5307G= (p.Pro1769=)
3g.53801198G>TCA433896015CACNA1Dc.5241G>T (p.Pro1747=)
n.2194-14G>T
n.616G>T
c.5181G>T (p.Pro1727=)
c.5136G>T (p.Pro1712=)
c.1316-14G>T
n.537G>T
n.608G>T
c.5208G>T (p.Pro1736=)
c.4260G>T (p.Pro1420=)
c.5436G>T (p.Pro1812=)
c.5325G>T (p.Pro1775=)
c.5247G>T (p.Pro1749=)
c.4899G>T (p.Pro1633=)
c.4524G>T (p.Pro1508=)
c.5331G>T (p.Pro1777=)
c.5433G>T (p.Pro1811=)
c.5376G>T (p.Pro1792=)
c.5352G>T (p.Pro1784=)
c.5307G>T (p.Pro1769=)
 dbSNP
3g.53801199C>ACA353250412CACNA1Dc.5242C>A (p.Leu1748Met)
n.2194-13C>A
n.617C>A
c.5182C>A (p.Leu1728Met)
c.5137C>A (p.Leu1713Met)
c.1316-13C>A
n.538C>A
n.609C>A
c.5209C>A (p.Leu1737Met)
c.4261C>A (p.Leu1421Met)
c.5437C>A (p.Leu1813Met)
c.5326C>A (p.Leu1776Met)
c.5248C>A (p.Leu1750Met)
c.4900C>A (p.Leu1634Met)
c.4525C>A (p.Leu1509Met)
c.5332C>A (p.Leu1778Met)
c.5434C>A (p.Leu1812Met)
c.5377C>A (p.Leu1793Met)
c.5353C>A (p.Leu1785Met)
c.5308C>A (p.Leu1770Met)
3g.53801199C>GCA353250413CACNA1Dc.5242C>G (p.Leu1748Val)
n.2194-13C>G
n.617C>G
c.5182C>G (p.Leu1728Val)
c.5137C>G (p.Leu1713Val)
c.1316-13C>G
n.538C>G
n.609C>G
c.5209C>G (p.Leu1737Val)
c.4261C>G (p.Leu1421Val)
c.5437C>G (p.Leu1813Val)
c.5326C>G (p.Leu1776Val)
c.5248C>G (p.Leu1750Val)
c.4900C>G (p.Leu1634Val)
c.4525C>G (p.Leu1509Val)
c.5332C>G (p.Leu1778Val)
c.5434C>G (p.Leu1812Val)
c.5377C>G (p.Leu1793Val)
c.5353C>G (p.Leu1785Val)
c.5308C>G (p.Leu1770Val)
3g.53801199C>TCA433896017CACNA1Dc.5242C>T (p.Leu1748=)
n.2194-13C>T
n.617C>T
c.5182C>T (p.Leu1728=)
c.5137C>T (p.Leu1713=)
c.1316-13C>T
n.538C>T
n.609C>T
c.5209C>T (p.Leu1737=)
c.4261C>T (p.Leu1421=)
c.5437C>T (p.Leu1813=)
c.5326C>T (p.Leu1776=)
c.5248C>T (p.Leu1750=)
c.4900C>T (p.Leu1634=)
c.4525C>T (p.Leu1509=)
c.5332C>T (p.Leu1778=)
c.5434C>T (p.Leu1812=)
c.5377C>T (p.Leu1793=)
c.5353C>T (p.Leu1785=)
c.5308C>T (p.Leu1770=)
3g.53801200T>ACA353250418CACNA1Dc.5243T>A (p.Leu1748Gln)
n.2194-12T>A
n.618T>A
c.5183T>A (p.Leu1728Gln)
c.5138T>A (p.Leu1713Gln)
c.1316-12T>A
n.539T>A
n.610T>A
c.5210T>A (p.Leu1737Gln)
c.4262T>A (p.Leu1421Gln)
c.5438T>A (p.Leu1813Gln)
c.5327T>A (p.Leu1776Gln)
c.5249T>A (p.Leu1750Gln)
c.4901T>A (p.Leu1634Gln)
c.4526T>A (p.Leu1509Gln)
c.5333T>A (p.Leu1778Gln)
c.5435T>A (p.Leu1812Gln)
c.5378T>A (p.Leu1793Gln)
c.5354T>A (p.Leu1785Gln)
c.5309T>A (p.Leu1770Gln)
3g.53801200T>CCA353250421CACNA1Dc.5243T>C (p.Leu1748Pro)
n.2194-12T>C
n.618T>C
c.5183T>C (p.Leu1728Pro)
c.5138T>C (p.Leu1713Pro)
c.1316-12T>C
n.539T>C
n.610T>C
c.5210T>C (p.Leu1737Pro)
c.4262T>C (p.Leu1421Pro)
c.5438T>C (p.Leu1813Pro)
c.5327T>C (p.Leu1776Pro)
c.5249T>C (p.Leu1750Pro)
c.4901T>C (p.Leu1634Pro)
c.4526T>C (p.Leu1509Pro)
c.5333T>C (p.Leu1778Pro)
c.5435T>C (p.Leu1812Pro)
c.5378T>C (p.Leu1793Pro)
c.5354T>C (p.Leu1785Pro)
c.5309T>C (p.Leu1770Pro)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.53801200T>GCA353250422CACNA1Dc.5243T>G (p.Leu1748Arg)
n.2194-12T>G
n.618T>G
c.5183T>G (p.Leu1728Arg)
c.5138T>G (p.Leu1713Arg)
c.1316-12T>G
n.539T>G
n.610T>G
c.5210T>G (p.Leu1737Arg)
c.4262T>G (p.Leu1421Arg)
c.5438T>G (p.Leu1813Arg)
c.5327T>G (p.Leu1776Arg)
c.5249T>G (p.Leu1750Arg)
c.4901T>G (p.Leu1634Arg)
c.4526T>G (p.Leu1509Arg)
c.5333T>G (p.Leu1778Arg)
c.5435T>G (p.Leu1812Arg)
c.5378T>G (p.Leu1793Arg)
c.5354T>G (p.Leu1785Arg)
c.5309T>G (p.Leu1770Arg)
3g.53801200T=CA1365484164CACNA1Dc.5243T= (p.Leu1748=)
n.2194-12T=
n.618T=
c.5183T= (p.Leu1728=)
c.5138T= (p.Leu1713=)
c.1316-12T=
n.539T=
n.610T=
c.5210T= (p.Leu1737=)
c.4262T= (p.Leu1421=)
c.5438T= (p.Leu1813=)
c.5327T= (p.Leu1776=)
c.5249T= (p.Leu1750=)
c.4901T= (p.Leu1634=)
c.4526T= (p.Leu1509=)
c.5333T= (p.Leu1778=)
c.5435T= (p.Leu1812=)
c.5378T= (p.Leu1793=)
c.5354T= (p.Leu1785=)
c.5309T= (p.Leu1770=)
3g.53801201G>ACA433896018CACNA1Dc.5244G>A (p.Leu1748=)
n.2194-11G>A
n.619G>A
c.5184G>A (p.Leu1728=)
c.5139G>A (p.Leu1713=)
c.1316-11G>A
n.540G>A
n.611G>A
c.5211G>A (p.Leu1737=)
c.4263G>A (p.Leu1421=)
c.5439G>A (p.Leu1813=)
c.5328G>A (p.Leu1776=)
c.5250G>A (p.Leu1750=)
c.4902G>A (p.Leu1634=)
c.4527G>A (p.Leu1509=)
c.5334G>A (p.Leu1778=)
c.5436G>A (p.Leu1812=)
c.5379G>A (p.Leu1793=)
c.5355G>A (p.Leu1785=)
c.5310G>A (p.Leu1770=)
 gnomAD v4
3g.53801201G>CCA433896020CACNA1Dc.5244G>C (p.Leu1748=)
n.2194-11G>C
n.619G>C
c.5184G>C (p.Leu1728=)
c.5139G>C (p.Leu1713=)
c.1316-11G>C
n.540G>C
n.611G>C
c.5211G>C (p.Leu1737=)
c.4263G>C (p.Leu1421=)
c.5439G>C (p.Leu1813=)
c.5328G>C (p.Leu1776=)
c.5250G>C (p.Leu1750=)
c.4902G>C (p.Leu1634=)
c.4527G>C (p.Leu1509=)
c.5334G>C (p.Leu1778=)
c.5436G>C (p.Leu1812=)
c.5379G>C (p.Leu1793=)
c.5355G>C (p.Leu1785=)
c.5310G>C (p.Leu1770=)
3g.53801201G>TCA433896023CACNA1Dc.5244G>T (p.Leu1748=)
n.2194-11G>T
n.619G>T
c.5184G>T (p.Leu1728=)
c.5139G>T (p.Leu1713=)
c.1316-11G>T
n.540G>T
n.611G>T
c.5211G>T (p.Leu1737=)
c.4263G>T (p.Leu1421=)
c.5439G>T (p.Leu1813=)
c.5328G>T (p.Leu1776=)
c.5250G>T (p.Leu1750=)
c.4902G>T (p.Leu1634=)
c.4527G>T (p.Leu1509=)
c.5334G>T (p.Leu1778=)
c.5436G>T (p.Leu1812=)
c.5379G>T (p.Leu1793=)
c.5355G>T (p.Leu1785=)
c.5310G>T (p.Leu1770=)
3g.53801202T>ACA353250426CACNA1Dc.5245T>A (p.Phe1749Ile)
n.2194-10T>A
n.620T>A
c.5185T>A (p.Phe1729Ile)
c.5140T>A (p.Phe1714Ile)
c.1316-10T>A
n.541T>A
n.612T>A
c.5212T>A (p.Phe1738Ile)
c.4264T>A (p.Phe1422Ile)
c.5440T>A (p.Phe1814Ile)
c.5329T>A (p.Phe1777Ile)
c.5251T>A (p.Phe1751Ile)
c.4903T>A (p.Phe1635Ile)
c.4528T>A (p.Phe1510Ile)
c.5335T>A (p.Phe1779Ile)
c.5437T>A (p.Phe1813Ile)
c.5380T>A (p.Phe1794Ile)
c.5356T>A (p.Phe1786Ile)
c.5311T>A (p.Phe1771Ile)
3g.53801202T>CCA353250428CACNA1Dc.5245T>C (p.Phe1749Leu)
n.2194-10T>C
n.620T>C
c.5185T>C (p.Phe1729Leu)
c.5140T>C (p.Phe1714Leu)
c.1316-10T>C
n.541T>C
n.612T>C
c.5212T>C (p.Phe1738Leu)
c.4264T>C (p.Phe1422Leu)
c.5440T>C (p.Phe1814Leu)
c.5329T>C (p.Phe1777Leu)
c.5251T>C (p.Phe1751Leu)
c.4903T>C (p.Phe1635Leu)
c.4528T>C (p.Phe1510Leu)
c.5335T>C (p.Phe1779Leu)
c.5437T>C (p.Phe1813Leu)
c.5380T>C (p.Phe1794Leu)
c.5356T>C (p.Phe1786Leu)
c.5311T>C (p.Phe1771Leu)
3g.53801202T>GCA353250432CACNA1Dc.5245T>G (p.Phe1749Val)
n.2194-10T>G
n.620T>G
c.5185T>G (p.Phe1729Val)
c.5140T>G (p.Phe1714Val)
c.1316-10T>G
n.541T>G
n.612T>G
c.5212T>G (p.Phe1738Val)
c.4264T>G (p.Phe1422Val)
c.5440T>G (p.Phe1814Val)
c.5329T>G (p.Phe1777Val)
c.5251T>G (p.Phe1751Val)
c.4903T>G (p.Phe1635Val)
c.4528T>G (p.Phe1510Val)
c.5335T>G (p.Phe1779Val)
c.5437T>G (p.Phe1813Val)
c.5380T>G (p.Phe1794Val)
c.5356T>G (p.Phe1786Val)
c.5311T>G (p.Phe1771Val)
3g.53801203T>ACA353250437CACNA1Dc.5246T>A (p.Phe1749Tyr)
n.2194-9T>A
n.621T>A
c.5186T>A (p.Phe1729Tyr)
c.5141T>A (p.Phe1714Tyr)
c.1316-9T>A
n.542T>A
n.613T>A
c.5213T>A (p.Phe1738Tyr)
c.4265T>A (p.Phe1422Tyr)
c.5441T>A (p.Phe1814Tyr)
c.5330T>A (p.Phe1777Tyr)
c.5252T>A (p.Phe1751Tyr)
c.4904T>A (p.Phe1635Tyr)
c.4529T>A (p.Phe1510Tyr)
c.5336T>A (p.Phe1779Tyr)
c.5438T>A (p.Phe1813Tyr)
c.5381T>A (p.Phe1794Tyr)
c.5357T>A (p.Phe1786Tyr)
c.5312T>A (p.Phe1771Tyr)
3g.53801203T>CCA353250438CACNA1Dc.5246T>C (p.Phe1749Ser)
n.2194-9T>C
n.621T>C
c.5186T>C (p.Phe1729Ser)
c.5141T>C (p.Phe1714Ser)
c.1316-9T>C
n.542T>C
n.613T>C
c.5213T>C (p.Phe1738Ser)
c.4265T>C (p.Phe1422Ser)
c.5441T>C (p.Phe1814Ser)
c.5330T>C (p.Phe1777Ser)
c.5252T>C (p.Phe1751Ser)
c.4904T>C (p.Phe1635Ser)
c.4529T>C (p.Phe1510Ser)
c.5336T>C (p.Phe1779Ser)
c.5438T>C (p.Phe1813Ser)
c.5381T>C (p.Phe1794Ser)
c.5357T>C (p.Phe1786Ser)
c.5312T>C (p.Phe1771Ser)
3g.53801203T>GCA353250441CACNA1Dc.5246T>G (p.Phe1749Cys)
n.2194-9T>G
n.621T>G
c.5186T>G (p.Phe1729Cys)
c.5141T>G (p.Phe1714Cys)
c.1316-9T>G
n.542T>G
n.613T>G
c.5213T>G (p.Phe1738Cys)
c.4265T>G (p.Phe1422Cys)
c.5441T>G (p.Phe1814Cys)
c.5330T>G (p.Phe1777Cys)
c.5252T>G (p.Phe1751Cys)
c.4904T>G (p.Phe1635Cys)
c.4529T>G (p.Phe1510Cys)
c.5336T>G (p.Phe1779Cys)
c.5438T>G (p.Phe1813Cys)
c.5381T>G (p.Phe1794Cys)
c.5357T>G (p.Phe1786Cys)
c.5312T>G (p.Phe1771Cys)
3g.53801204T>ACA353250443CACNA1Dc.5247T>A (p.Phe1749Leu)
n.2194-8T>A
n.622T>A
c.5187T>A (p.Phe1729Leu)
c.5142T>A (p.Phe1714Leu)
c.1316-8T>A
n.543T>A
n.614T>A
c.5214T>A (p.Phe1738Leu)
c.4266T>A (p.Phe1422Leu)
c.5442T>A (p.Phe1814Leu)
c.5331T>A (p.Phe1777Leu)
c.5253T>A (p.Phe1751Leu)
c.4905T>A (p.Phe1635Leu)
c.4530T>A (p.Phe1510Leu)
c.5337T>A (p.Phe1779Leu)
c.5439T>A (p.Phe1813Leu)
c.5382T>A (p.Phe1794Leu)
c.5358T>A (p.Phe1786Leu)
c.5313T>A (p.Phe1771Leu)
3g.53801204T>CCA433896028CACNA1Dc.5247T>C (p.Phe1749=)
n.2194-8T>C
n.622T>C
c.5187T>C (p.Phe1729=)
c.5142T>C (p.Phe1714=)
c.1316-8T>C
n.543T>C
n.614T>C
c.5214T>C (p.Phe1738=)
c.4266T>C (p.Phe1422=)
c.5442T>C (p.Phe1814=)
c.5331T>C (p.Phe1777=)
c.5253T>C (p.Phe1751=)
c.4905T>C (p.Phe1635=)
c.4530T>C (p.Phe1510=)
c.5337T>C (p.Phe1779=)
c.5439T>C (p.Phe1813=)
c.5382T>C (p.Phe1794=)
c.5358T>C (p.Phe1786=)
c.5313T>C (p.Phe1771=)
 COSMIC COSMIC
3g.53801204T>GCA353250447CACNA1Dc.5247T>G (p.Phe1749Leu)
n.2194-8T>G
n.622T>G
c.5187T>G (p.Phe1729Leu)
c.5142T>G (p.Phe1714Leu)
c.1316-8T>G
n.543T>G
n.614T>G
c.5214T>G (p.Phe1738Leu)
c.4266T>G (p.Phe1422Leu)
c.5442T>G (p.Phe1814Leu)
c.5331T>G (p.Phe1777Leu)
c.5253T>G (p.Phe1751Leu)
c.4905T>G (p.Phe1635Leu)
c.4530T>G (p.Phe1510Leu)
c.5337T>G (p.Phe1779Leu)
c.5439T>G (p.Phe1813Leu)
c.5382T>G (p.Phe1794Leu)
c.5358T>G (p.Phe1786Leu)
c.5313T>G (p.Phe1771Leu)
3g.53801205C>ACA353250451CACNA1Dc.5248C>A (p.Pro1750Thr)
n.2194-7C>A
n.623C>A
c.5188C>A (p.Pro1730Thr)
c.5143C>A (p.Pro1715Thr)
c.1316-7C>A
n.544C>A
n.615C>A
c.5215C>A (p.Pro1739Thr)
c.4267C>A (p.Pro1423Thr)
c.5443C>A (p.Pro1815Thr)
c.5332C>A (p.Pro1778Thr)
c.5254C>A (p.Pro1752Thr)
c.4906C>A (p.Pro1636Thr)
c.4531C>A (p.Pro1511Thr)
c.5338C>A (p.Pro1780Thr)
c.5440C>A (p.Pro1814Thr)
c.5383C>A (p.Pro1795Thr)
c.5359C>A (p.Pro1787Thr)
c.5314C>A (p.Pro1772Thr)
3g.53801205C=CA1365484165CACNA1Dc.5248C= (p.Pro1750=)
n.2194-7C=
n.623C=
c.5188C= (p.Pro1730=)
c.5143C= (p.Pro1715=)
c.1316-7C=
n.544C=
n.615C=
c.5215C= (p.Pro1739=)
c.4267C= (p.Pro1423=)
c.5443C= (p.Pro1815=)
c.5332C= (p.Pro1778=)
c.5254C= (p.Pro1752=)
c.4906C= (p.Pro1636=)
c.4531C= (p.Pro1511=)
c.5338C= (p.Pro1780=)
c.5440C= (p.Pro1814=)
c.5383C= (p.Pro1795=)
c.5359C= (p.Pro1787=)
c.5314C= (p.Pro1772=)
3g.53801205C>GCA353250452CACNA1Dc.5248C>G (p.Pro1750Ala)
n.2194-7C>G
n.623C>G
c.5188C>G (p.Pro1730Ala)
c.5143C>G (p.Pro1715Ala)
c.1316-7C>G
n.544C>G
n.615C>G
c.5215C>G (p.Pro1739Ala)
c.4267C>G (p.Pro1423Ala)
c.5443C>G (p.Pro1815Ala)
c.5332C>G (p.Pro1778Ala)
c.5254C>G (p.Pro1752Ala)
c.4906C>G (p.Pro1636Ala)
c.4531C>G (p.Pro1511Ala)
c.5338C>G (p.Pro1780Ala)
c.5440C>G (p.Pro1814Ala)
c.5383C>G (p.Pro1795Ala)
c.5359C>G (p.Pro1787Ala)
c.5314C>G (p.Pro1772Ala)
3g.53801205C>TCA353250456CACNA1Dc.5248C>T (p.Pro1750Ser)
n.2194-7C>T
n.623C>T
c.5188C>T (p.Pro1730Ser)
c.5143C>T (p.Pro1715Ser)
c.1316-7C>T
n.544C>T
n.615C>T
c.5215C>T (p.Pro1739Ser)
c.4267C>T (p.Pro1423Ser)
c.5443C>T (p.Pro1815Ser)
c.5332C>T (p.Pro1778Ser)
c.5254C>T (p.Pro1752Ser)
c.4906C>T (p.Pro1636Ser)
c.4531C>T (p.Pro1511Ser)
c.5338C>T (p.Pro1780Ser)
c.5440C>T (p.Pro1814Ser)
c.5383C>T (p.Pro1795Ser)
c.5359C>T (p.Pro1787Ser)
c.5314C>T (p.Pro1772Ser)
 dbSNP gnomAD v2 gnomAD v4
3g.53801206C>ACA353250459CACNA1Dc.5249C>A (p.Pro1750His)
n.2194-6C>A
n.624C>A
c.5189C>A (p.Pro1730His)
c.5144C>A (p.Pro1715His)
c.1316-6C>A
n.545C>A
n.616C>A
c.5216C>A (p.Pro1739His)
c.4268C>A (p.Pro1423His)
c.5444C>A (p.Pro1815His)
c.5333C>A (p.Pro1778His)
c.5255C>A (p.Pro1752His)
c.4907C>A (p.Pro1636His)
c.4532C>A (p.Pro1511His)
c.5339C>A (p.Pro1780His)
c.5441C>A (p.Pro1814His)
c.5384C>A (p.Pro1795His)
c.5360C>A (p.Pro1787His)
c.5315C>A (p.Pro1772His)
 COSMIC COSMIC
3g.53801206C>GCA353250462CACNA1Dc.5249C>G (p.Pro1750Arg)
n.2194-6C>G
n.624C>G
c.5189C>G (p.Pro1730Arg)
c.5144C>G (p.Pro1715Arg)
c.1316-6C>G
n.545C>G
n.616C>G
c.5216C>G (p.Pro1739Arg)
c.4268C>G (p.Pro1423Arg)
c.5444C>G (p.Pro1815Arg)
c.5333C>G (p.Pro1778Arg)
c.5255C>G (p.Pro1752Arg)
c.4907C>G (p.Pro1636Arg)
c.4532C>G (p.Pro1511Arg)
c.5339C>G (p.Pro1780Arg)
c.5441C>G (p.Pro1814Arg)
c.5384C>G (p.Pro1795Arg)
c.5360C>G (p.Pro1787Arg)
c.5315C>G (p.Pro1772Arg)
3g.53801206C>TCA353250464CACNA1Dc.5249C>T (p.Pro1750Leu)
n.2194-6C>T
n.624C>T
c.5189C>T (p.Pro1730Leu)
c.5144C>T (p.Pro1715Leu)
c.1316-6C>T
n.545C>T
n.616C>T
c.5216C>T (p.Pro1739Leu)
c.4268C>T (p.Pro1423Leu)
c.5444C>T (p.Pro1815Leu)
c.5333C>T (p.Pro1778Leu)
c.5255C>T (p.Pro1752Leu)
c.4907C>T (p.Pro1636Leu)
c.4532C>T (p.Pro1511Leu)
c.5339C>T (p.Pro1780Leu)
c.5441C>T (p.Pro1814Leu)
c.5384C>T (p.Pro1795Leu)
c.5360C>T (p.Pro1787Leu)
c.5315C>T (p.Pro1772Leu)
3g.53801207T>ACA433896032CACNA1Dc.5250T>A (p.Pro1750=)
n.2194-5T>A
n.625T>A
c.5190T>A (p.Pro1730=)
c.5145T>A (p.Pro1715=)
c.1316-5T>A
n.546T>A
n.617T>A
c.5217T>A (p.Pro1739=)
c.4269T>A (p.Pro1423=)
c.5445T>A (p.Pro1815=)
c.5334T>A (p.Pro1778=)
c.5256T>A (p.Pro1752=)
c.4908T>A (p.Pro1636=)
c.4533T>A (p.Pro1511=)
c.5340T>A (p.Pro1780=)
c.5442T>A (p.Pro1814=)
c.5385T>A (p.Pro1795=)
c.5361T>A (p.Pro1787=)
c.5316T>A (p.Pro1772=)
3g.53801207T>CCA433896033CACNA1Dc.5250T>C (p.Pro1750=)
n.2194-5T>C
n.625T>C
c.5190T>C (p.Pro1730=)
c.5145T>C (p.Pro1715=)
c.1316-5T>C
n.546T>C
n.617T>C
c.5217T>C (p.Pro1739=)
c.4269T>C (p.Pro1423=)
c.5445T>C (p.Pro1815=)
c.5334T>C (p.Pro1778=)
c.5256T>C (p.Pro1752=)
c.4908T>C (p.Pro1636=)
c.4533T>C (p.Pro1511=)
c.5340T>C (p.Pro1780=)
c.5442T>C (p.Pro1814=)
c.5385T>C (p.Pro1795=)
c.5361T>C (p.Pro1787=)
c.5316T>C (p.Pro1772=)
3g.53801207T>GCA433896035CACNA1Dc.5250T>G (p.Pro1750=)
n.2194-5T>G
n.625T>G
c.5190T>G (p.Pro1730=)
c.5145T>G (p.Pro1715=)
c.1316-5T>G
n.546T>G
n.617T>G
c.5217T>G (p.Pro1739=)
c.4269T>G (p.Pro1423=)
c.5445T>G (p.Pro1815=)
c.5334T>G (p.Pro1778=)
c.5256T>G (p.Pro1752=)
c.4908T>G (p.Pro1636=)
c.4533T>G (p.Pro1511=)
c.5340T>G (p.Pro1780=)
c.5442T>G (p.Pro1814=)
c.5385T>G (p.Pro1795=)
c.5361T>G (p.Pro1787=)
c.5316T>G (p.Pro1772=)
3g.53801208C>ACA353250468CACNA1Dc.5251C>A (p.Pro1751Thr)
n.2194-4C>A
n.626C>A
c.5191C>A (p.Pro1731Thr)
c.5146C>A (p.Pro1716Thr)
c.1316-4C>A
n.547C>A
n.618C>A
c.5218C>A (p.Pro1740Thr)
c.4270C>A (p.Pro1424Thr)
c.5446C>A (p.Pro1816Thr)
c.5335C>A (p.Pro1779Thr)
c.5257C>A (p.Pro1753Thr)
c.4909C>A (p.Pro1637Thr)
c.4534C>A (p.Pro1512Thr)
c.5341C>A (p.Pro1781Thr)
c.5443C>A (p.Pro1815Thr)
c.5386C>A (p.Pro1796Thr)
c.5362C>A (p.Pro1788Thr)
c.5317C>A (p.Pro1773Thr)
3g.53801208C>GCA353250470CACNA1Dc.5251C>G (p.Pro1751Ala)
n.2194-4C>G
n.626C>G
c.5191C>G (p.Pro1731Ala)
c.5146C>G (p.Pro1716Ala)
c.1316-4C>G
n.547C>G
n.618C>G
c.5218C>G (p.Pro1740Ala)
c.4270C>G (p.Pro1424Ala)
c.5446C>G (p.Pro1816Ala)
c.5335C>G (p.Pro1779Ala)
c.5257C>G (p.Pro1753Ala)
c.4909C>G (p.Pro1637Ala)
c.4534C>G (p.Pro1512Ala)
c.5341C>G (p.Pro1781Ala)
c.5443C>G (p.Pro1815Ala)
c.5386C>G (p.Pro1796Ala)
c.5362C>G (p.Pro1788Ala)
c.5317C>G (p.Pro1773Ala)
3g.53801208C>TCA353250475CACNA1Dc.5251C>T (p.Pro1751Ser)
n.2194-4C>T
n.626C>T
c.5191C>T (p.Pro1731Ser)
c.5146C>T (p.Pro1716Ser)
c.1316-4C>T
n.547C>T
n.618C>T
c.5218C>T (p.Pro1740Ser)
c.4270C>T (p.Pro1424Ser)
c.5446C>T (p.Pro1816Ser)
c.5335C>T (p.Pro1779Ser)
c.5257C>T (p.Pro1753Ser)
c.4909C>T (p.Pro1637Ser)
c.4534C>T (p.Pro1512Ser)
c.5341C>T (p.Pro1781Ser)
c.5443C>T (p.Pro1815Ser)
c.5386C>T (p.Pro1796Ser)
c.5362C>T (p.Pro1788Ser)
c.5317C>T (p.Pro1773Ser)
 COSMIC COSMIC
3g.53801209C>ACA353250479CACNA1Dc.5252C>A (p.Pro1751Gln)
n.2194-3C>A
n.627C>A
c.5192C>A (p.Pro1731Gln)
c.5147C>A (p.Pro1716Gln)
c.1316-3C>A
n.548C>A
n.619C>A
c.5219C>A (p.Pro1740Gln)
c.4271C>A (p.Pro1424Gln)
c.5447C>A (p.Pro1816Gln)
c.5336C>A (p.Pro1779Gln)
c.5258C>A (p.Pro1753Gln)
c.4910C>A (p.Pro1637Gln)
c.4535C>A (p.Pro1512Gln)
c.5342C>A (p.Pro1781Gln)
c.5444C>A (p.Pro1815Gln)
c.5387C>A (p.Pro1796Gln)
c.5363C>A (p.Pro1788Gln)
c.5318C>A (p.Pro1773Gln)
3g.53801209C>GCA353250484CACNA1Dc.5252C>G (p.Pro1751Arg)
n.2194-3C>G
n.627C>G
c.5192C>G (p.Pro1731Arg)
c.5147C>G (p.Pro1716Arg)
c.1316-3C>G
n.548C>G
n.619C>G
c.5219C>G (p.Pro1740Arg)
c.4271C>G (p.Pro1424Arg)
c.5447C>G (p.Pro1816Arg)
c.5336C>G (p.Pro1779Arg)
c.5258C>G (p.Pro1753Arg)
c.4910C>G (p.Pro1637Arg)
c.4535C>G (p.Pro1512Arg)
c.5342C>G (p.Pro1781Arg)
c.5444C>G (p.Pro1815Arg)
c.5387C>G (p.Pro1796Arg)
c.5363C>G (p.Pro1788Arg)
c.5318C>G (p.Pro1773Arg)
3g.53801209C>TCA353250485CACNA1Dc.5252C>T (p.Pro1751Leu)
n.2194-3C>T
n.627C>T
c.5192C>T (p.Pro1731Leu)
c.5147C>T (p.Pro1716Leu)
c.1316-3C>T
n.548C>T
n.619C>T
c.5219C>T (p.Pro1740Leu)
c.4271C>T (p.Pro1424Leu)
c.5447C>T (p.Pro1816Leu)
c.5336C>T (p.Pro1779Leu)
c.5258C>T (p.Pro1753Leu)
c.4910C>T (p.Pro1637Leu)
c.4535C>T (p.Pro1512Leu)
c.5342C>T (p.Pro1781Leu)
c.5444C>T (p.Pro1815Leu)
c.5387C>T (p.Pro1796Leu)
c.5363C>T (p.Pro1788Leu)
c.5318C>T (p.Pro1773Leu)
 gnomAD v4 COSMIC COSMIC
3g.53801210A>CCA433896040CACNA1Dc.5253A>C (p.Pro1751=)
n.2194-2A>C
n.628A>C
c.5193A>C (p.Pro1731=)
c.5148A>C (p.Pro1716=)
c.1316-2A>C
n.549A>C
n.620A>C
c.5220A>C (p.Pro1740=)
c.4272A>C (p.Pro1424=)
c.5448A>C (p.Pro1816=)
c.5337A>C (p.Pro1779=)
c.5259A>C (p.Pro1753=)
c.4911A>C (p.Pro1637=)
c.4536A>C (p.Pro1512=)
c.5343A>C (p.Pro1781=)
c.5445A>C (p.Pro1815=)
c.5388A>C (p.Pro1796=)
c.5364A>C (p.Pro1788=)
c.5319A>C (p.Pro1773=)
3g.53801210A>GCA433896041CACNA1Dc.5253A>G (p.Pro1751=)
n.2194-2A>G
n.628A>G
c.5193A>G (p.Pro1731=)
c.5148A>G (p.Pro1716=)
c.1316-2A>G
n.549A>G
n.620A>G
c.5220A>G (p.Pro1740=)
c.4272A>G (p.Pro1424=)
c.5448A>G (p.Pro1816=)
c.5337A>G (p.Pro1779=)
c.5259A>G (p.Pro1753=)
c.4911A>G (p.Pro1637=)
c.4536A>G (p.Pro1512=)
c.5343A>G (p.Pro1781=)
c.5445A>G (p.Pro1815=)
c.5388A>G (p.Pro1796=)
c.5364A>G (p.Pro1788=)
c.5319A>G (p.Pro1773=)
3g.53801210A>TCA433896042CACNA1Dc.5253A>T (p.Pro1751=)
n.2194-2A>T
n.628A>T
c.5193A>T (p.Pro1731=)
c.5148A>T (p.Pro1716=)
c.1316-2A>T
n.549A>T
n.620A>T
c.5220A>T (p.Pro1740=)
c.4272A>T (p.Pro1424=)
c.5448A>T (p.Pro1816=)
c.5337A>T (p.Pro1779=)
c.5259A>T (p.Pro1753=)
c.4911A>T (p.Pro1637=)
c.4536A>T (p.Pro1512=)
c.5343A>T (p.Pro1781=)
c.5445A>T (p.Pro1815=)
c.5388A>T (p.Pro1796=)
c.5364A>T (p.Pro1788=)
c.5319A>T (p.Pro1773=)
3g.53801211G>ACA353250487CACNA1Dc.5254G>A (p.Ala1752Thr)
n.2194-1G>A
n.629G>A
c.5194G>A (p.Ala1732Thr)
c.5149G>A (p.Ala1717Thr)
c.1316-1G>A
n.550G>A
n.621G>A
c.5221G>A (p.Ala1741Thr)
c.4273G>A (p.Ala1425Thr)
c.5449G>A (p.Ala1817Thr)
c.5338G>A (p.Ala1780Thr)
c.5260G>A (p.Ala1754Thr)
c.4912G>A (p.Ala1638Thr)
c.4537G>A (p.Ala1513Thr)
c.5344G>A (p.Ala1782Thr)
c.5446G>A (p.Ala1816Thr)
c.5389G>A (p.Ala1797Thr)
c.5365G>A (p.Ala1789Thr)
c.5320G>A (p.Ala1774Thr)
 COSMIC COSMIC
3g.53801211G>CCA353250489CACNA1Dc.5254G>C (p.Ala1752Pro)
n.2194-1G>C
n.629G>C
c.5194G>C (p.Ala1732Pro)
c.5149G>C (p.Ala1717Pro)
c.1316-1G>C
n.550G>C
n.621G>C
c.5221G>C (p.Ala1741Pro)
c.4273G>C (p.Ala1425Pro)
c.5449G>C (p.Ala1817Pro)
c.5338G>C (p.Ala1780Pro)
c.5260G>C (p.Ala1754Pro)
c.4912G>C (p.Ala1638Pro)
c.4537G>C (p.Ala1513Pro)
c.5344G>C (p.Ala1782Pro)
c.5446G>C (p.Ala1816Pro)
c.5389G>C (p.Ala1797Pro)
c.5365G>C (p.Ala1789Pro)
c.5320G>C (p.Ala1774Pro)
3g.53801211G>TCA353250488CACNA1Dc.5254G>T (p.Ala1752Ser)
n.2194-1G>T
n.629G>T
c.5194G>T (p.Ala1732Ser)
c.5149G>T (p.Ala1717Ser)
c.1316-1G>T
n.550G>T
n.621G>T
c.5221G>T (p.Ala1741Ser)
c.4273G>T (p.Ala1425Ser)
c.5449G>T (p.Ala1817Ser)
c.5338G>T (p.Ala1780Ser)
c.5260G>T (p.Ala1754Ser)
c.4912G>T (p.Ala1638Ser)
c.4537G>T (p.Ala1513Ser)
c.5344G>T (p.Ala1782Ser)
c.5446G>T (p.Ala1816Ser)
c.5389G>T (p.Ala1797Ser)
c.5365G>T (p.Ala1789Ser)
c.5320G>T (p.Ala1774Ser)
 ClinVar dbSNP
3g.53801212C>ACA353250490CACNA1Dc.5255C>A (p.Ala1752Glu)
n.2194C>A
n.630C>A
c.5195C>A (p.Ala1732Glu)
c.5150C>A (p.Ala1717Glu)
c.1316C>A
n.551C>A
n.622C>A
c.5222C>A (p.Ala1741Glu)
c.4274C>A (p.Ala1425Glu)
c.5450C>A (p.Ala1817Glu)
c.5339C>A (p.Ala1780Glu)
c.5261C>A (p.Ala1754Glu)
c.4913C>A (p.Ala1638Glu)
c.4538C>A (p.Ala1513Glu)
c.5345C>A (p.Ala1782Glu)
c.5447C>A (p.Ala1816Glu)
c.5390C>A (p.Ala1797Glu)
c.5366C>A (p.Ala1789Glu)
c.5321C>A (p.Ala1774Glu)
3g.53801212C>GCA353250491CACNA1Dc.5255C>G (p.Ala1752Gly)
n.2194C>G
n.630C>G
c.5195C>G (p.Ala1732Gly)
c.5150C>G (p.Ala1717Gly)
c.1316C>G
n.551C>G
n.622C>G
c.5222C>G (p.Ala1741Gly)
c.4274C>G (p.Ala1425Gly)
c.5450C>G (p.Ala1817Gly)
c.5339C>G (p.Ala1780Gly)
c.5261C>G (p.Ala1754Gly)
c.4913C>G (p.Ala1638Gly)
c.4538C>G (p.Ala1513Gly)
c.5345C>G (p.Ala1782Gly)
c.5447C>G (p.Ala1816Gly)
c.5390C>G (p.Ala1797Gly)
c.5366C>G (p.Ala1789Gly)
c.5321C>G (p.Ala1774Gly)
3g.53801212C>TCA353250493CACNA1Dc.5255C>T (p.Ala1752Val)
n.2194C>T
n.630C>T
c.5195C>T (p.Ala1732Val)
c.5150C>T (p.Ala1717Val)
c.1316C>T
n.551C>T
n.622C>T
c.5222C>T (p.Ala1741Val)
c.4274C>T (p.Ala1425Val)
c.5450C>T (p.Ala1817Val)
c.5339C>T (p.Ala1780Val)
c.5261C>T (p.Ala1754Val)
c.4913C>T (p.Ala1638Val)
c.4538C>T (p.Ala1513Val)
c.5345C>T (p.Ala1782Val)
c.5447C>T (p.Ala1816Val)
c.5390C>T (p.Ala1797Val)
c.5366C>T (p.Ala1789Val)
c.5321C>T (p.Ala1774Val)
 COSMIC COSMIC
3g.53801213A>CCA433896049CACNA1Dc.5256A>C (p.Ala1752=)
n.2195A>C
n.631A>C
c.5196A>C (p.Ala1732=)
c.5151A>C (p.Ala1717=)
c.1317A>C
n.552A>C
n.623A>C
c.5223A>C (p.Ala1741=)
c.4275A>C (p.Ala1425=)
c.5451A>C (p.Ala1817=)
c.5340A>C (p.Ala1780=)
c.5262A>C (p.Ala1754=)
c.4914A>C (p.Ala1638=)
c.4539A>C (p.Ala1513=)
c.5346A>C (p.Ala1782=)
c.5448A>C (p.Ala1816=)
c.5391A>C (p.Ala1797=)
c.5367A>C (p.Ala1789=)
c.5322A>C (p.Ala1774=)
3g.53801213A>GCA433896051CACNA1Dc.5256A>G (p.Ala1752=)
n.2195A>G
n.631A>G
c.5196A>G (p.Ala1732=)
c.5151A>G (p.Ala1717=)
c.1317A>G
n.552A>G
n.623A>G
c.5223A>G (p.Ala1741=)
c.4275A>G (p.Ala1425=)
c.5451A>G (p.Ala1817=)
c.5340A>G (p.Ala1780=)
c.5262A>G (p.Ala1754=)
c.4914A>G (p.Ala1638=)
c.4539A>G (p.Ala1513=)
c.5346A>G (p.Ala1782=)
c.5448A>G (p.Ala1816=)
c.5391A>G (p.Ala1797=)
c.5367A>G (p.Ala1789=)
c.5322A>G (p.Ala1774=)
3g.53801213A>TCA433896053CACNA1Dc.5256A>T (p.Ala1752=)
n.2195A>T
n.631A>T
c.5196A>T (p.Ala1732=)
c.5151A>T (p.Ala1717=)
c.1317A>T
n.552A>T
n.623A>T
c.5223A>T (p.Ala1741=)
c.4275A>T (p.Ala1425=)
c.5451A>T (p.Ala1817=)
c.5340A>T (p.Ala1780=)
c.5262A>T (p.Ala1754=)
c.4914A>T (p.Ala1638=)
c.4539A>T (p.Ala1513=)
c.5346A>T (p.Ala1782=)
c.5448A>T (p.Ala1816=)
c.5391A>T (p.Ala1797=)
c.5367A>T (p.Ala1789=)
c.5322A>T (p.Ala1774=)
3g.53801214G>ACA353250498CACNA1Dc.5257G>A (p.Gly1753Arg)
n.2196G>A
n.632G>A
c.5197G>A (p.Gly1733Arg)
c.5152G>A (p.Gly1718Arg)
c.1318G>A
n.553G>A
n.624G>A
c.5224G>A (p.Gly1742Arg)
c.4276G>A (p.Gly1426Arg)
c.5452G>A (p.Gly1818Arg)
c.5341G>A (p.Gly1781Arg)
c.5263G>A (p.Gly1755Arg)
c.4915G>A (p.Gly1639Arg)
c.4540G>A (p.Gly1514Arg)
c.5347G>A (p.Gly1783Arg)
c.5449G>A (p.Gly1817Arg)
c.5392G>A (p.Gly1798Arg)
c.5368G>A (p.Gly1790Arg)
c.5323G>A (p.Gly1775Arg)
3g.53801214G>CCA353250505CACNA1Dc.5257G>C (p.Gly1753Arg)
n.2196G>C
n.632G>C
c.5197G>C (p.Gly1733Arg)
c.5152G>C (p.Gly1718Arg)
c.1318G>C
n.553G>C
n.624G>C
c.5224G>C (p.Gly1742Arg)
c.4276G>C (p.Gly1426Arg)
c.5452G>C (p.Gly1818Arg)
c.5341G>C (p.Gly1781Arg)
c.5263G>C (p.Gly1755Arg)
c.4915G>C (p.Gly1639Arg)
c.4540G>C (p.Gly1514Arg)
c.5347G>C (p.Gly1783Arg)
c.5449G>C (p.Gly1817Arg)
c.5392G>C (p.Gly1798Arg)
c.5368G>C (p.Gly1790Arg)
c.5323G>C (p.Gly1775Arg)
3g.53801214G>TCA353250509CACNA1Dc.5257G>T (p.Gly1753Ter)
n.2196G>T
n.632G>T
c.5197G>T (p.Gly1733Ter)
c.5152G>T (p.Gly1718Ter)
c.1318G>T
n.553G>T
n.624G>T
c.5224G>T (p.Gly1742Ter)
c.4276G>T (p.Gly1426Ter)
c.5452G>T (p.Gly1818Ter)
c.5341G>T (p.Gly1781Ter)
c.5263G>T (p.Gly1755Ter)
c.4915G>T (p.Gly1639Ter)
c.4540G>T (p.Gly1514Ter)
c.5347G>T (p.Gly1783Ter)
c.5449G>T (p.Gly1817Ter)
c.5392G>T (p.Gly1798Ter)
c.5368G>T (p.Gly1790Ter)
c.5323G>T (p.Gly1775Ter)
3g.53801215G>ACA353250512CACNA1Dc.5258G>A (p.Gly1753Glu)
n.2197G>A
n.633G>A
c.5198G>A (p.Gly1733Glu)
c.5153G>A (p.Gly1718Glu)
c.1319G>A
n.554G>A
n.625G>A
c.5225G>A (p.Gly1742Glu)
c.4277G>A (p.Gly1426Glu)
c.5453G>A (p.Gly1818Glu)
c.5342G>A (p.Gly1781Glu)
c.5264G>A (p.Gly1755Glu)
c.4916G>A (p.Gly1639Glu)
c.4541G>A (p.Gly1514Glu)
c.5348G>A (p.Gly1783Glu)
c.5450G>A (p.Gly1817Glu)
c.5393G>A (p.Gly1798Glu)
c.5369G>A (p.Gly1790Glu)
c.5324G>A (p.Gly1775Glu)
 gnomAD v4 COSMIC COSMIC
3g.53801215G>CCA353250516CACNA1Dc.5258G>C (p.Gly1753Ala)
n.2197G>C
n.633G>C
c.5198G>C (p.Gly1733Ala)
c.5153G>C (p.Gly1718Ala)
c.1319G>C
n.554G>C
n.625G>C
c.5225G>C (p.Gly1742Ala)
c.4277G>C (p.Gly1426Ala)
c.5453G>C (p.Gly1818Ala)
c.5342G>C (p.Gly1781Ala)
c.5264G>C (p.Gly1755Ala)
c.4916G>C (p.Gly1639Ala)
c.4541G>C (p.Gly1514Ala)
c.5348G>C (p.Gly1783Ala)
c.5450G>C (p.Gly1817Ala)
c.5393G>C (p.Gly1798Ala)
c.5369G>C (p.Gly1790Ala)
c.5324G>C (p.Gly1775Ala)
3g.53801215G>TCA353250518CACNA1Dc.5258G>T (p.Gly1753Val)
n.2197G>T
n.633G>T
c.5198G>T (p.Gly1733Val)
c.5153G>T (p.Gly1718Val)
c.1319G>T
n.554G>T
n.625G>T
c.5225G>T (p.Gly1742Val)
c.4277G>T (p.Gly1426Val)
c.5453G>T (p.Gly1818Val)
c.5342G>T (p.Gly1781Val)
c.5264G>T (p.Gly1755Val)
c.4916G>T (p.Gly1639Val)
c.4541G>T (p.Gly1514Val)
c.5348G>T (p.Gly1783Val)
c.5450G>T (p.Gly1817Val)
c.5393G>T (p.Gly1798Val)
c.5369G>T (p.Gly1790Val)
c.5324G>T (p.Gly1775Val)
3g.53801216A>CCA433896059CACNA1Dc.5259A>C (p.Gly1753=)
n.2198A>C
n.634A>C
c.5199A>C (p.Gly1733=)
c.5154A>C (p.Gly1718=)
c.1320A>C
n.555A>C
n.626A>C
c.5226A>C (p.Gly1742=)
c.4278A>C (p.Gly1426=)
c.5454A>C (p.Gly1818=)
c.5343A>C (p.Gly1781=)
c.5265A>C (p.Gly1755=)
c.4917A>C (p.Gly1639=)
c.4542A>C (p.Gly1514=)
c.5349A>C (p.Gly1783=)
c.5451A>C (p.Gly1817=)
c.5394A>C (p.Gly1798=)
c.5370A>C (p.Gly1790=)
c.5325A>C (p.Gly1775=)
3g.53801216A>GCA433896055CACNA1Dc.5259A>G (p.Gly1753=)
n.2198A>G
n.634A>G
c.5199A>G (p.Gly1733=)
c.5154A>G (p.Gly1718=)
c.1320A>G
n.555A>G
n.626A>G
c.5226A>G (p.Gly1742=)
c.4278A>G (p.Gly1426=)
c.5454A>G (p.Gly1818=)
c.5343A>G (p.Gly1781=)
c.5265A>G (p.Gly1755=)
c.4917A>G (p.Gly1639=)
c.4542A>G (p.Gly1514=)
c.5349A>G (p.Gly1783=)
c.5451A>G (p.Gly1817=)
c.5394A>G (p.Gly1798=)
c.5370A>G (p.Gly1790=)
c.5325A>G (p.Gly1775=)
3g.53801216A>TCA433896057CACNA1Dc.5259A>T (p.Gly1753=)
n.2198A>T
n.634A>T
c.5199A>T (p.Gly1733=)
c.5154A>T (p.Gly1718=)
c.1320A>T
n.555A>T
n.626A>T
c.5226A>T (p.Gly1742=)
c.4278A>T (p.Gly1426=)
c.5454A>T (p.Gly1818=)
c.5343A>T (p.Gly1781=)
c.5265A>T (p.Gly1755=)
c.4917A>T (p.Gly1639=)
c.4542A>T (p.Gly1514=)
c.5349A>T (p.Gly1783=)
c.5451A>T (p.Gly1817=)
c.5394A>T (p.Gly1798=)
c.5370A>T (p.Gly1790=)
c.5325A>T (p.Gly1775=)
3g.53801217A>CCA353250523CACNA1Dc.5260A>C (p.Asn1754His)
n.2199A>C
n.635A>C
c.5200A>C (p.Asn1734His)
c.5155A>C (p.Asn1719His)
c.1321A>C
n.556A>C
n.627A>C
c.5227A>C (p.Asn1743His)
c.4279A>C (p.Asn1427His)
c.5455A>C (p.Asn1819His)
c.5344A>C (p.Asn1782His)
c.5266A>C (p.Asn1756His)
c.4918A>C (p.Asn1640His)
c.4543A>C (p.Asn1515His)
c.5350A>C (p.Asn1784His)
c.5452A>C (p.Asn1818His)
c.5395A>C (p.Asn1799His)
c.5371A>C (p.Asn1791His)
c.5326A>C (p.Asn1776His)
3g.53801217A>GCA353250526CACNA1Dc.5260A>G (p.Asn1754Asp)
n.2199A>G
n.635A>G
c.5200A>G (p.Asn1734Asp)
c.5155A>G (p.Asn1719Asp)
c.1321A>G
n.556A>G
n.627A>G
c.5227A>G (p.Asn1743Asp)
c.4279A>G (p.Asn1427Asp)
c.5455A>G (p.Asn1819Asp)
c.5344A>G (p.Asn1782Asp)
c.5266A>G (p.Asn1756Asp)
c.4918A>G (p.Asn1640Asp)
c.4543A>G (p.Asn1515Asp)
c.5350A>G (p.Asn1784Asp)
c.5452A>G (p.Asn1818Asp)
c.5395A>G (p.Asn1799Asp)
c.5371A>G (p.Asn1791Asp)
c.5326A>G (p.Asn1776Asp)
3g.53801217A>TCA353250529CACNA1Dc.5260A>T (p.Asn1754Tyr)
n.2199A>T
n.635A>T
c.5200A>T (p.Asn1734Tyr)
c.5155A>T (p.Asn1719Tyr)
c.1321A>T
n.556A>T
n.627A>T
c.5227A>T (p.Asn1743Tyr)
c.4279A>T (p.Asn1427Tyr)
c.5455A>T (p.Asn1819Tyr)
c.5344A>T (p.Asn1782Tyr)
c.5266A>T (p.Asn1756Tyr)
c.4918A>T (p.Asn1640Tyr)
c.4543A>T (p.Asn1515Tyr)
c.5350A>T (p.Asn1784Tyr)
c.5452A>T (p.Asn1818Tyr)
c.5395A>T (p.Asn1799Tyr)
c.5371A>T (p.Asn1791Tyr)
c.5326A>T (p.Asn1776Tyr)
3g.53801218A=CA1365484166CACNA1Dc.5261A= (p.Asn1754=)
n.2200A=
n.636A=
c.5201A= (p.Asn1734=)
c.5156A= (p.Asn1719=)
c.1322A=
n.557A=
n.628A=
c.5228A= (p.Asn1743=)
c.4280A= (p.Asn1427=)
c.5456A= (p.Asn1819=)
c.5345A= (p.Asn1782=)
c.5267A= (p.Asn1756=)
c.4919A= (p.Asn1640=)
c.4544A= (p.Asn1515=)
c.5351A= (p.Asn1784=)
c.5453A= (p.Asn1818=)
c.5396A= (p.Asn1799=)
c.5372A= (p.Asn1791=)
c.5327A= (p.Asn1776=)
3g.53801218A>CCA353250539CACNA1Dc.5261A>C (p.Asn1754Thr)
n.2200A>C
n.636A>C
c.5201A>C (p.Asn1734Thr)
c.5156A>C (p.Asn1719Thr)
c.1322A>C
n.557A>C
n.628A>C
c.5228A>C (p.Asn1743Thr)
c.4280A>C (p.Asn1427Thr)
c.5456A>C (p.Asn1819Thr)
c.5345A>C (p.Asn1782Thr)
c.5267A>C (p.Asn1756Thr)
c.4919A>C (p.Asn1640Thr)
c.4544A>C (p.Asn1515Thr)
c.5351A>C (p.Asn1784Thr)
c.5453A>C (p.Asn1818Thr)
c.5396A>C (p.Asn1799Thr)
c.5372A>C (p.Asn1791Thr)
c.5327A>C (p.Asn1776Thr)
3g.53801218A>GCA353250534CACNA1Dc.5261A>G (p.Asn1754Ser)
n.2200A>G
n.636A>G
c.5201A>G (p.Asn1734Ser)
c.5156A>G (p.Asn1719Ser)
c.1322A>G
n.557A>G
n.628A>G
c.5228A>G (p.Asn1743Ser)
c.4280A>G (p.Asn1427Ser)
c.5456A>G (p.Asn1819Ser)
c.5345A>G (p.Asn1782Ser)
c.5267A>G (p.Asn1756Ser)
c.4919A>G (p.Asn1640Ser)
c.4544A>G (p.Asn1515Ser)
c.5351A>G (p.Asn1784Ser)
c.5453A>G (p.Asn1818Ser)
c.5396A>G (p.Asn1799Ser)
c.5372A>G (p.Asn1791Ser)
c.5327A>G (p.Asn1776Ser)
3g.53801218A>TCA74859870CACNA1Dc.5261A>T (p.Asn1754Ile)
n.2200A>T
n.636A>T
c.5201A>T (p.Asn1734Ile)
c.5156A>T (p.Asn1719Ile)
c.1322A>T
n.557A>T
n.628A>T
c.5228A>T (p.Asn1743Ile)
c.4280A>T (p.Asn1427Ile)
c.5456A>T (p.Asn1819Ile)
c.5345A>T (p.Asn1782Ile)
c.5267A>T (p.Asn1756Ile)
c.4919A>T (p.Asn1640Ile)
c.4544A>T (p.Asn1515Ile)
c.5351A>T (p.Asn1784Ile)
c.5453A>T (p.Asn1818Ile)
c.5396A>T (p.Asn1799Ile)
c.5372A>T (p.Asn1791Ile)
c.5327A>T (p.Asn1776Ile)
 dbSNP
3g.53801219T>ACA353250543CACNA1Dc.5262T>A (p.Asn1754Lys)
n.2201T>A
n.637T>A
c.5202T>A (p.Asn1734Lys)
c.5157T>A (p.Asn1719Lys)
c.1323T>A
n.558T>A
n.629T>A
c.5229T>A (p.Asn1743Lys)
c.4281T>A (p.Asn1427Lys)
c.5457T>A (p.Asn1819Lys)
c.5346T>A (p.Asn1782Lys)
c.5268T>A (p.Asn1756Lys)
c.4920T>A (p.Asn1640Lys)
c.4545T>A (p.Asn1515Lys)
c.5352T>A (p.Asn1784Lys)
c.5454T>A (p.Asn1818Lys)
c.5397T>A (p.Asn1799Lys)
c.5373T>A (p.Asn1791Lys)
c.5328T>A (p.Asn1776Lys)
3g.53801219T>CCA433896065CACNA1Dc.5262T>C (p.Asn1754=)
n.2201T>C
n.637T>C
c.5202T>C (p.Asn1734=)
c.5157T>C (p.Asn1719=)
c.1323T>C
n.558T>C
n.629T>C
c.5229T>C (p.Asn1743=)
c.4281T>C (p.Asn1427=)
c.5457T>C (p.Asn1819=)
c.5346T>C (p.Asn1782=)
c.5268T>C (p.Asn1756=)
c.4920T>C (p.Asn1640=)
c.4545T>C (p.Asn1515=)
c.5352T>C (p.Asn1784=)
c.5454T>C (p.Asn1818=)
c.5397T>C (p.Asn1799=)
c.5373T>C (p.Asn1791=)
c.5328T>C (p.Asn1776=)
3g.53801219T>GCA353250546CACNA1Dc.5262T>G (p.Asn1754Lys)
n.2201T>G
n.637T>G
c.5202T>G (p.Asn1734Lys)
c.5157T>G (p.Asn1719Lys)
c.1323T>G
n.558T>G
n.629T>G
c.5229T>G (p.Asn1743Lys)
c.4281T>G (p.Asn1427Lys)
c.5457T>G (p.Asn1819Lys)
c.5346T>G (p.Asn1782Lys)
c.5268T>G (p.Asn1756Lys)
c.4920T>G (p.Asn1640Lys)
c.4545T>G (p.Asn1515Lys)
c.5352T>G (p.Asn1784Lys)
c.5454T>G (p.Asn1818Lys)
c.5397T>G (p.Asn1799Lys)
c.5373T>G (p.Asn1791Lys)
c.5328T>G (p.Asn1776Lys)
3g.53801220T>ACA353250550CACNA1Dc.5263T>A (p.Ser1755Thr)
n.2202T>A
n.638T>A
c.5203T>A (p.Ser1735Thr)
c.5158T>A (p.Ser1720Thr)
c.1324T>A
n.559T>A
n.630T>A
c.5230T>A (p.Ser1744Thr)
c.4282T>A (p.Ser1428Thr)
c.5458T>A (p.Ser1820Thr)
c.5347T>A (p.Ser1783Thr)
c.5269T>A (p.Ser1757Thr)
c.4921T>A (p.Ser1641Thr)
c.4546T>A (p.Ser1516Thr)
c.5353T>A (p.Ser1785Thr)
c.5455T>A (p.Ser1819Thr)
c.5398T>A (p.Ser1800Thr)
c.5374T>A (p.Ser1792Thr)
c.5329T>A (p.Ser1777Thr)
3g.53801220T>CCA353250552CACNA1Dc.5263T>C (p.Ser1755Pro)
n.2202T>C
n.638T>C
c.5203T>C (p.Ser1735Pro)
c.5158T>C (p.Ser1720Pro)
c.1324T>C
n.559T>C
n.630T>C
c.5230T>C (p.Ser1744Pro)
c.4282T>C (p.Ser1428Pro)
c.5458T>C (p.Ser1820Pro)
c.5347T>C (p.Ser1783Pro)
c.5269T>C (p.Ser1757Pro)
c.4921T>C (p.Ser1641Pro)
c.4546T>C (p.Ser1516Pro)
c.5353T>C (p.Ser1785Pro)
c.5455T>C (p.Ser1819Pro)
c.5398T>C (p.Ser1800Pro)
c.5374T>C (p.Ser1792Pro)
c.5329T>C (p.Ser1777Pro)
 gnomAD v4
3g.53801220T>GCA353250554CACNA1Dc.5263T>G (p.Ser1755Ala)
n.2202T>G
n.638T>G
c.5203T>G (p.Ser1735Ala)
c.5158T>G (p.Ser1720Ala)
c.1324T>G
n.559T>G
n.630T>G
c.5230T>G (p.Ser1744Ala)
c.4282T>G (p.Ser1428Ala)
c.5458T>G (p.Ser1820Ala)
c.5347T>G (p.Ser1783Ala)
c.5269T>G (p.Ser1757Ala)
c.4921T>G (p.Ser1641Ala)
c.4546T>G (p.Ser1516Ala)
c.5353T>G (p.Ser1785Ala)
c.5455T>G (p.Ser1819Ala)
c.5398T>G (p.Ser1800Ala)
c.5374T>G (p.Ser1792Ala)
c.5329T>G (p.Ser1777Ala)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.53801220T=CA1365484167CACNA1Dc.5263T= (p.Ser1755=)
n.2202T=
n.638T=
c.5203T= (p.Ser1735=)
c.5158T= (p.Ser1720=)
c.1324T=
n.559T=
n.630T=
c.5230T= (p.Ser1744=)
c.4282T= (p.Ser1428=)
c.5458T= (p.Ser1820=)
c.5347T= (p.Ser1783=)
c.5269T= (p.Ser1757=)
c.4921T= (p.Ser1641=)
c.4546T= (p.Ser1516=)
c.5353T= (p.Ser1785=)
c.5455T= (p.Ser1819=)
c.5398T= (p.Ser1800=)
c.5374T= (p.Ser1792=)
c.5329T= (p.Ser1777=)
3g.53801221C>ACA353250556CACNA1Dc.5264C>A (p.Ser1755Ter)
n.2203C>A
n.639C>A
c.5204C>A (p.Ser1735Ter)
c.5159C>A (p.Ser1720Ter)
c.1325C>A
n.560C>A
n.631C>A
c.5231C>A (p.Ser1744Ter)
c.4283C>A (p.Ser1428Ter)
c.5459C>A (p.Ser1820Ter)
c.5348C>A (p.Ser1783Ter)
c.5270C>A (p.Ser1757Ter)
c.4922C>A (p.Ser1641Ter)
c.4547C>A (p.Ser1516Ter)
c.5354C>A (p.Ser1785Ter)
c.5456C>A (p.Ser1819Ter)
c.5399C>A (p.Ser1800Ter)
c.5375C>A (p.Ser1792Ter)
c.5330C>A (p.Ser1777Ter)
3g.53801221C=CA1365484168CACNA1Dc.5264C= (p.Ser1755=)
n.2203C=
n.639C=
c.5204C= (p.Ser1735=)
c.5159C= (p.Ser1720=)
c.1325C=
n.560C=
n.631C=
c.5231C= (p.Ser1744=)
c.4283C= (p.Ser1428=)
c.5459C= (p.Ser1820=)
c.5348C= (p.Ser1783=)
c.5270C= (p.Ser1757=)
c.4922C= (p.Ser1641=)
c.4547C= (p.Ser1516=)
c.5354C= (p.Ser1785=)
c.5456C= (p.Ser1819=)
c.5399C= (p.Ser1800=)
c.5375C= (p.Ser1792=)
c.5330C= (p.Ser1777=)
3g.53801221C>GCA353250557CACNA1Dc.5264C>G (p.Ser1755Trp)
n.2203C>G
n.639C>G
c.5204C>G (p.Ser1735Trp)
c.5159C>G (p.Ser1720Trp)
c.1325C>G
n.560C>G
n.631C>G
c.5231C>G (p.Ser1744Trp)
c.4283C>G (p.Ser1428Trp)
c.5459C>G (p.Ser1820Trp)
c.5348C>G (p.Ser1783Trp)
c.5270C>G (p.Ser1757Trp)
c.4922C>G (p.Ser1641Trp)
c.4547C>G (p.Ser1516Trp)
c.5354C>G (p.Ser1785Trp)
c.5456C>G (p.Ser1819Trp)
c.5399C>G (p.Ser1800Trp)
c.5375C>G (p.Ser1792Trp)
c.5330C>G (p.Ser1777Trp)
3g.53801221C>TCA353250561CACNA1Dc.5264C>T (p.Ser1755Leu)
n.2203C>T
n.639C>T
c.5204C>T (p.Ser1735Leu)
c.5159C>T (p.Ser1720Leu)
c.1325C>T
n.560C>T
n.631C>T
c.5231C>T (p.Ser1744Leu)
c.4283C>T (p.Ser1428Leu)
c.5459C>T (p.Ser1820Leu)
c.5348C>T (p.Ser1783Leu)
c.5270C>T (p.Ser1757Leu)
c.4922C>T (p.Ser1641Leu)
c.4547C>T (p.Ser1516Leu)
c.5354C>T (p.Ser1785Leu)
c.5456C>T (p.Ser1819Leu)
c.5399C>T (p.Ser1800Leu)
c.5375C>T (p.Ser1792Leu)
c.5330C>T (p.Ser1777Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
3g.53801222G>ACA433896073CACNA1Dc.5265G>A (p.Ser1755=)
n.2204G>A
n.640G>A
c.5205G>A (p.Ser1735=)
c.5160G>A (p.Ser1720=)
c.1326G>A
n.561G>A
n.632G>A
c.5232G>A (p.Ser1744=)
c.4284G>A (p.Ser1428=)
c.5460G>A (p.Ser1820=)
c.5349G>A (p.Ser1783=)
c.5271G>A (p.Ser1757=)
c.4923G>A (p.Ser1641=)
c.4548G>A (p.Ser1516=)
c.5355G>A (p.Ser1785=)
c.5457G>A (p.Ser1819=)
c.5400G>A (p.Ser1800=)
c.5376G>A (p.Ser1792=)
c.5331G>A (p.Ser1777=)
 dbSNP gnomAD v2 gnomAD v4
3g.53801222G>CCA433896071CACNA1Dc.5265G>C (p.Ser1755=)
n.2204G>C
n.640G>C
c.5205G>C (p.Ser1735=)
c.5160G>C (p.Ser1720=)
c.1326G>C
n.561G>C
n.632G>C
c.5232G>C (p.Ser1744=)
c.4284G>C (p.Ser1428=)
c.5460G>C (p.Ser1820=)
c.5349G>C (p.Ser1783=)
c.5271G>C (p.Ser1757=)
c.4923G>C (p.Ser1641=)
c.4548G>C (p.Ser1516=)
c.5355G>C (p.Ser1785=)
c.5457G>C (p.Ser1819=)
c.5400G>C (p.Ser1800=)
c.5376G>C (p.Ser1792=)
c.5331G>C (p.Ser1777=)
 gnomAD v4
3g.53801222G=CA1365484169CACNA1Dc.5265G= (p.Ser1755=)
n.2204G=
n.640G=
c.5205G= (p.Ser1735=)
c.5160G= (p.Ser1720=)
c.1326G=
n.561G=
n.632G=
c.5232G= (p.Ser1744=)
c.4284G= (p.Ser1428=)
c.5460G= (p.Ser1820=)
c.5349G= (p.Ser1783=)
c.5271G= (p.Ser1757=)
c.4923G= (p.Ser1641=)
c.4548G= (p.Ser1516=)
c.5355G= (p.Ser1785=)
c.5457G= (p.Ser1819=)
c.5400G= (p.Ser1800=)
c.5376G= (p.Ser1792=)
c.5331G= (p.Ser1777=)
3g.53801222G>TCA433896075CACNA1Dc.5265G>T (p.Ser1755=)
n.2204G>T
n.640G>T
c.5205G>T (p.Ser1735=)
c.5160G>T (p.Ser1720=)
c.1326G>T
n.561G>T
n.632G>T
c.5232G>T (p.Ser1744=)
c.4284G>T (p.Ser1428=)
c.5460G>T (p.Ser1820=)
c.5349G>T (p.Ser1783=)
c.5271G>T (p.Ser1757=)
c.4923G>T (p.Ser1641=)
c.4548G>T (p.Ser1516=)
c.5355G>T (p.Ser1785=)
c.5457G>T (p.Ser1819=)
c.5400G>T (p.Ser1800=)
c.5376G>T (p.Ser1792=)
c.5331G>T (p.Ser1777=)
3g.53801223G>ACA353250564CACNA1Dc.5266G>A (p.Val1756Met)
n.2205G>A
n.641G>A
c.5206G>A (p.Val1736Met)
c.5161G>A (p.Val1721Met)
c.1327G>A
n.562G>A
n.633G>A
c.5233G>A (p.Val1745Met)
c.4285G>A (p.Val1429Met)
c.5461G>A (p.Val1821Met)
c.5350G>A (p.Val1784Met)
c.5272G>A (p.Val1758Met)
c.4924G>A (p.Val1642Met)
c.4549G>A (p.Val1517Met)
c.5356G>A (p.Val1786Met)
c.5458G>A (p.Val1820Met)
c.5401G>A (p.Val1801Met)
c.5377G>A (p.Val1793Met)
c.5332G>A (p.Val1778Met)
3g.53801223G>CCA353250568CACNA1Dc.5266G>C (p.Val1756Leu)
n.2205G>C
n.641G>C
c.5206G>C (p.Val1736Leu)
c.5161G>C (p.Val1721Leu)
c.1327G>C
n.562G>C
n.633G>C
c.5233G>C (p.Val1745Leu)
c.4285G>C (p.Val1429Leu)
c.5461G>C (p.Val1821Leu)
c.5350G>C (p.Val1784Leu)
c.5272G>C (p.Val1758Leu)
c.4924G>C (p.Val1642Leu)
c.4549G>C (p.Val1517Leu)
c.5356G>C (p.Val1786Leu)
c.5458G>C (p.Val1820Leu)
c.5401G>C (p.Val1801Leu)
c.5377G>C (p.Val1793Leu)
c.5332G>C (p.Val1778Leu)
3g.53801223G>TCA353250571CACNA1Dc.5266G>T (p.Val1756Leu)
n.2205G>T
n.641G>T
c.5206G>T (p.Val1736Leu)
c.5161G>T (p.Val1721Leu)
c.1327G>T
n.562G>T
n.633G>T
c.5233G>T (p.Val1745Leu)
c.4285G>T (p.Val1429Leu)
c.5461G>T (p.Val1821Leu)
c.5350G>T (p.Val1784Leu)
c.5272G>T (p.Val1758Leu)
c.4924G>T (p.Val1642Leu)
c.4549G>T (p.Val1517Leu)
c.5356G>T (p.Val1786Leu)
c.5458G>T (p.Val1820Leu)
c.5401G>T (p.Val1801Leu)
c.5377G>T (p.Val1793Leu)
c.5332G>T (p.Val1778Leu)
3g.53801224T>ACA353250577CACNA1Dc.5267T>A (p.Val1756Glu)
n.2206T>A
n.642T>A
c.5207T>A (p.Val1736Glu)
c.5162T>A (p.Val1721Glu)
c.1328T>A
n.563T>A
n.634T>A
c.5234T>A (p.Val1745Glu)
c.4286T>A (p.Val1429Glu)
c.5462T>A (p.Val1821Glu)
c.5351T>A (p.Val1784Glu)
c.5273T>A (p.Val1758Glu)
c.4925T>A (p.Val1642Glu)
c.4550T>A (p.Val1517Glu)
c.5357T>A (p.Val1786Glu)
c.5459T>A (p.Val1820Glu)
c.5402T>A (p.Val1801Glu)
c.5378T>A (p.Val1793Glu)
c.5333T>A (p.Val1778Glu)
3g.53801224T>CCA353250582CACNA1Dc.5267T>C (p.Val1756Ala)
n.2206T>C
n.642T>C
c.5207T>C (p.Val1736Ala)
c.5162T>C (p.Val1721Ala)
c.1328T>C
n.563T>C
n.634T>C
c.5234T>C (p.Val1745Ala)
c.4286T>C (p.Val1429Ala)
c.5462T>C (p.Val1821Ala)
c.5351T>C (p.Val1784Ala)
c.5273T>C (p.Val1758Ala)
c.4925T>C (p.Val1642Ala)
c.4550T>C (p.Val1517Ala)
c.5357T>C (p.Val1786Ala)
c.5459T>C (p.Val1820Ala)
c.5402T>C (p.Val1801Ala)
c.5378T>C (p.Val1793Ala)
c.5333T>C (p.Val1778Ala)
3g.53801224T>GCA353250574CACNA1Dc.5267T>G (p.Val1756Gly)
n.2206T>G
n.642T>G
c.5207T>G (p.Val1736Gly)
c.5162T>G (p.Val1721Gly)
c.1328T>G
n.563T>G
n.634T>G
c.5234T>G (p.Val1745Gly)
c.4286T>G (p.Val1429Gly)
c.5462T>G (p.Val1821Gly)
c.5351T>G (p.Val1784Gly)
c.5273T>G (p.Val1758Gly)
c.4925T>G (p.Val1642Gly)
c.4550T>G (p.Val1517Gly)
c.5357T>G (p.Val1786Gly)
c.5459T>G (p.Val1820Gly)
c.5402T>G (p.Val1801Gly)
c.5378T>G (p.Val1793Gly)
c.5333T>G (p.Val1778Gly)
 COSMIC COSMIC
3g.53801225G>ACA433896081CACNA1Dc.5268G>A (p.Val1756=)
n.2207G>A
n.643G>A
c.5208G>A (p.Val1736=)
c.5163G>A (p.Val1721=)
c.1329G>A
n.564G>A
n.635G>A
c.5235G>A (p.Val1745=)
c.4287G>A (p.Val1429=)
c.5463G>A (p.Val1821=)
c.5352G>A (p.Val1784=)
c.5274G>A (p.Val1758=)
c.4926G>A (p.Val1642=)
c.4551G>A (p.Val1517=)
c.5358G>A (p.Val1786=)
c.5460G>A (p.Val1820=)
c.5403G>A (p.Val1801=)
c.5379G>A (p.Val1793=)
c.5334G>A (p.Val1778=)
 dbSNP gnomAD v2 gnomAD v4
3g.53801225G>CCA433896082CACNA1Dc.5268G>C (p.Val1756=)
n.2207G>C
n.643G>C
c.5208G>C (p.Val1736=)
c.5163G>C (p.Val1721=)
c.1329G>C
n.564G>C
n.635G>C
c.5235G>C (p.Val1745=)
c.4287G>C (p.Val1429=)
c.5463G>C (p.Val1821=)
c.5352G>C (p.Val1784=)
c.5274G>C (p.Val1758=)
c.4926G>C (p.Val1642=)
c.4551G>C (p.Val1517=)
c.5358G>C (p.Val1786=)
c.5460G>C (p.Val1820=)
c.5403G>C (p.Val1801=)
c.5379G>C (p.Val1793=)
c.5334G>C (p.Val1778=)
3g.53801225G=CA1365484170CACNA1Dc.5268G= (p.Val1756=)
n.2207G=
n.643G=
c.5208G= (p.Val1736=)
c.5163G= (p.Val1721=)
c.1329G=
n.564G=
n.635G=
c.5235G= (p.Val1745=)
c.4287G= (p.Val1429=)
c.5463G= (p.Val1821=)
c.5352G= (p.Val1784=)
c.5274G= (p.Val1758=)
c.4926G= (p.Val1642=)
c.4551G= (p.Val1517=)
c.5358G= (p.Val1786=)
c.5460G= (p.Val1820=)
c.5403G= (p.Val1801=)
c.5379G= (p.Val1793=)
c.5334G= (p.Val1778=)
3g.53801225G>TCA433896083CACNA1Dc.5268G>T (p.Val1756=)
n.2207G>T
n.643G>T
c.5208G>T (p.Val1736=)
c.5163G>T (p.Val1721=)
c.1329G>T
n.564G>T
n.635G>T
c.5235G>T (p.Val1745=)
c.4287G>T (p.Val1429=)
c.5463G>T (p.Val1821=)
c.5352G>T (p.Val1784=)
c.5274G>T (p.Val1758=)
c.4926G>T (p.Val1642=)
c.4551G>T (p.Val1517=)
c.5358G>T (p.Val1786=)
c.5460G>T (p.Val1820=)
c.5403G>T (p.Val1801=)
c.5379G>T (p.Val1793=)
c.5334G>T (p.Val1778=)
3g.53801226T>ACA353250588CACNA1Dc.5269T>A (p.Cys1757Ser)
n.2208T>A
n.644T>A
c.5209T>A (p.Cys1737Ser)
c.5164T>A (p.Cys1722Ser)
c.1330T>A
n.565T>A
n.636T>A
c.5236T>A (p.Cys1746Ser)
c.4288T>A (p.Cys1430Ser)
c.5464T>A (p.Cys1822Ser)
c.5353T>A (p.Cys1785Ser)
c.5275T>A (p.Cys1759Ser)
c.4927T>A (p.Cys1643Ser)
c.4552T>A (p.Cys1518Ser)
c.5359T>A (p.Cys1787Ser)
c.5461T>A (p.Cys1821Ser)
c.5404T>A (p.Cys1802Ser)
c.5380T>A (p.Cys1794Ser)
c.5335T>A (p.Cys1779Ser)
3g.53801226T>CCA353250586CACNA1Dc.5269T>C (p.Cys1757Arg)
n.2208T>C
n.644T>C
c.5209T>C (p.Cys1737Arg)
c.5164T>C (p.Cys1722Arg)
c.1330T>C
n.565T>C
n.636T>C
c.5236T>C (p.Cys1746Arg)
c.4288T>C (p.Cys1430Arg)
c.5464T>C (p.Cys1822Arg)
c.5353T>C (p.Cys1785Arg)
c.5275T>C (p.Cys1759Arg)
c.4927T>C (p.Cys1643Arg)
c.4552T>C (p.Cys1518Arg)
c.5359T>C (p.Cys1787Arg)
c.5461T>C (p.Cys1821Arg)
c.5404T>C (p.Cys1802Arg)
c.5380T>C (p.Cys1794Arg)
c.5335T>C (p.Cys1779Arg)
3g.53801226T>GCA353250590CACNA1Dc.5269T>G (p.Cys1757Gly)
n.2208T>G
n.644T>G
c.5209T>G (p.Cys1737Gly)
c.5164T>G (p.Cys1722Gly)
c.1330T>G
n.565T>G
n.636T>G
c.5236T>G (p.Cys1746Gly)
c.4288T>G (p.Cys1430Gly)
c.5464T>G (p.Cys1822Gly)
c.5353T>G (p.Cys1785Gly)
c.5275T>G (p.Cys1759Gly)
c.4927T>G (p.Cys1643Gly)
c.4552T>G (p.Cys1518Gly)
c.5359T>G (p.Cys1787Gly)
c.5461T>G (p.Cys1821Gly)
c.5404T>G (p.Cys1802Gly)
c.5380T>G (p.Cys1794Gly)
c.5335T>G (p.Cys1779Gly)
3g.53801227G>ACA353250593CACNA1Dc.5270G>A (p.Cys1757Tyr)
n.2209G>A
n.645G>A
c.5210G>A (p.Cys1737Tyr)
c.5165G>A (p.Cys1722Tyr)
c.1331G>A
n.566G>A
n.637G>A
c.5237G>A (p.Cys1746Tyr)
c.4289G>A (p.Cys1430Tyr)
c.5465G>A (p.Cys1822Tyr)
c.5354G>A (p.Cys1785Tyr)
c.5276G>A (p.Cys1759Tyr)
c.4928G>A (p.Cys1643Tyr)
c.4553G>A (p.Cys1518Tyr)
c.5360G>A (p.Cys1787Tyr)
c.5462G>A (p.Cys1821Tyr)
c.5405G>A (p.Cys1802Tyr)
c.5381G>A (p.Cys1794Tyr)
c.5336G>A (p.Cys1779Tyr)
 gnomAD v4
3g.53801227G>CCA353250594CACNA1Dc.5270G>C (p.Cys1757Ser)
n.2209G>C
n.645G>C
c.5210G>C (p.Cys1737Ser)
c.5165G>C (p.Cys1722Ser)
c.1331G>C
n.566G>C
n.637G>C
c.5237G>C (p.Cys1746Ser)
c.4289G>C (p.Cys1430Ser)
c.5465G>C (p.Cys1822Ser)
c.5354G>C (p.Cys1785Ser)
c.5276G>C (p.Cys1759Ser)
c.4928G>C (p.Cys1643Ser)
c.4553G>C (p.Cys1518Ser)
c.5360G>C (p.Cys1787Ser)
c.5462G>C (p.Cys1821Ser)
c.5405G>C (p.Cys1802Ser)
c.5381G>C (p.Cys1794Ser)
c.5336G>C (p.Cys1779Ser)
3g.53801227G>TCA353250595CACNA1Dc.5270G>T (p.Cys1757Phe)
n.2209G>T
n.645G>T
c.5210G>T (p.Cys1737Phe)
c.5165G>T (p.Cys1722Phe)
c.1331G>T
n.566G>T
n.637G>T
c.5237G>T (p.Cys1746Phe)
c.4289G>T (p.Cys1430Phe)
c.5465G>T (p.Cys1822Phe)
c.5354G>T (p.Cys1785Phe)
c.5276G>T (p.Cys1759Phe)
c.4928G>T (p.Cys1643Phe)
c.4553G>T (p.Cys1518Phe)
c.5360G>T (p.Cys1787Phe)
c.5462G>T (p.Cys1821Phe)
c.5405G>T (p.Cys1802Phe)
c.5381G>T (p.Cys1794Phe)
c.5336G>T (p.Cys1779Phe)
3g.53801227_53801236delinsGTCATAACCACA1365484171CACNA1Dc.5270_5279delinsGTCATAACCA (p.Cys1757=)
n.2209_2218delinsGTCATAACCA
n.645_654delinsGTCATAACCA
c.5210_5219delinsGTCATAACCA (p.Cys1737=)
c.5165_5174delinsGTCATAACCA (p.Cys1722=)
c.1331_1340delinsGTCATAACCA
n.566_575delinsGTCATAACCA
n.637_646delinsGTCATAACCA
c.5237_5246delinsGTCATAACCA (p.Cys1746=)
c.4289_4298delinsGTCATAACCA (p.Cys1430=)
c.5465_5474delinsGTCATAACCA (p.Cys1822=)
c.5354_5363delinsGTCATAACCA (p.Cys1785=)
c.5276_5285delinsGTCATAACCA (p.Cys1759=)
c.4928_4937delinsGTCATAACCA (p.Cys1643=)
c.4553_4562delinsGTCATAACCA (p.Cys1518=)
c.5360_5369delinsGTCATAACCA (p.Cys1787=)
c.5462_5471delinsGTCATAACCA (p.Cys1821=)
c.5405_5414delinsGTCATAACCA (p.Cys1802=)
c.5381_5390delinsGTCATAACCA (p.Cys1794=)
c.5336_5345delinsGTCATAACCA (p.Cys1779=)
3g.53801228T>ACA353250599CACNA1Dc.5271T>A (p.Cys1757Ter)
n.2210T>A
n.646T>A
c.5211T>A (p.Cys1737Ter)
c.5166T>A (p.Cys1722Ter)
c.1332T>A
n.567T>A
n.638T>A
c.5238T>A (p.Cys1746Ter)
c.4290T>A (p.Cys1430Ter)
c.5466T>A (p.Cys1822Ter)
c.5355T>A (p.Cys1785Ter)
c.5277T>A (p.Cys1759Ter)
c.4929T>A (p.Cys1643Ter)
c.4554T>A (p.Cys1518Ter)
c.5361T>A (p.Cys1787Ter)
c.5463T>A (p.Cys1821Ter)
c.5406T>A (p.Cys1802Ter)
c.5382T>A (p.Cys1794Ter)
c.5337T>A (p.Cys1779Ter)
3g.53801228T>CCA433896087CACNA1Dc.5271T>C (p.Cys1757=)
n.2210T>C
n.646T>C
c.5211T>C (p.Cys1737=)
c.5166T>C (p.Cys1722=)
c.1332T>C
n.567T>C
n.638T>C
c.5238T>C (p.Cys1746=)
c.4290T>C (p.Cys1430=)
c.5466T>C (p.Cys1822=)
c.5355T>C (p.Cys1785=)
c.5277T>C (p.Cys1759=)
c.4929T>C (p.Cys1643=)
c.4554T>C (p.Cys1518=)
c.5361T>C (p.Cys1787=)
c.5463T>C (p.Cys1821=)
c.5406T>C (p.Cys1802=)
c.5382T>C (p.Cys1794=)
c.5337T>C (p.Cys1779=)
3g.53801228T>GCA353250601CACNA1Dc.5271T>G (p.Cys1757Trp)
n.2210T>G
n.646T>G
c.5211T>G (p.Cys1737Trp)
c.5166T>G (p.Cys1722Trp)
c.1332T>G
n.567T>G
n.638T>G
c.5238T>G (p.Cys1746Trp)
c.4290T>G (p.Cys1430Trp)
c.5466T>G (p.Cys1822Trp)
c.5355T>G (p.Cys1785Trp)
c.5277T>G (p.Cys1759Trp)
c.4929T>G (p.Cys1643Trp)
c.4554T>G (p.Cys1518Trp)
c.5361T>G (p.Cys1787Trp)
c.5463T>G (p.Cys1821Trp)
c.5406T>G (p.Cys1802Trp)
c.5382T>G (p.Cys1794Trp)
c.5337T>G (p.Cys1779Trp)
3g.53801238_53801246delCA1048074805CACNA1Dc.5281_5289del (p.His1761_His1763del)
n.2220_2228del
n.656_664del
c.5221_5229del (p.His1741_His1743del)
c.5176_5184del (p.His1726_His1728del)
c.1342_1350del
n.577_585del
n.648_656del
c.5248_5256del (p.His1750_His1752del)
c.4300_4308del (p.His1434_His1436del)
c.5476_5484del (p.His1826_His1828del)
c.5365_5373del (p.His1789_His1791del)
c.5287_5295del (p.His1763_His1765del)
c.4939_4947del (p.His1647_His1649del)
c.4564_4572del (p.His1522_His1524del)
c.5371_5379del (p.His1791_His1793del)
c.5473_5481del (p.His1825_His1827del)
c.5416_5424del (p.His1806_His1808del)
c.5392_5400del (p.His1798_His1800del)
c.5347_5355del (p.His1783_His1785del)
 dbSNP gnomAD v3 gnomAD v4
3g.53801229C>ACA353250604CACNA1Dc.5272C>A (p.His1758Asn)
n.2211C>A
n.647C>A
c.5212C>A (p.His1738Asn)
c.5167C>A (p.His1723Asn)
c.1333C>A
n.568C>A
n.639C>A
c.5239C>A (p.His1747Asn)
c.4291C>A (p.His1431Asn)
c.5467C>A (p.His1823Asn)
c.5356C>A (p.His1786Asn)
c.5278C>A (p.His1760Asn)
c.4930C>A (p.His1644Asn)
c.4555C>A (p.His1519Asn)
c.5362C>A (p.His1788Asn)
c.5464C>A (p.His1822Asn)
c.5407C>A (p.His1803Asn)
c.5383C>A (p.His1795Asn)
c.5338C>A (p.His1780Asn)
3g.53801229C>GCA353250605CACNA1Dc.5272C>G (p.His1758Asp)
n.2211C>G
n.647C>G
c.5212C>G (p.His1738Asp)
c.5167C>G (p.His1723Asp)
c.1333C>G
n.568C>G
n.639C>G
c.5239C>G (p.His1747Asp)
c.4291C>G (p.His1431Asp)
c.5467C>G (p.His1823Asp)
c.5356C>G (p.His1786Asp)
c.5278C>G (p.His1760Asp)
c.4930C>G (p.His1644Asp)
c.4555C>G (p.His1519Asp)
c.5362C>G (p.His1788Asp)
c.5464C>G (p.His1822Asp)
c.5407C>G (p.His1803Asp)
c.5383C>G (p.His1795Asp)
c.5338C>G (p.His1780Asp)
3g.53801229C>TCA353250608CACNA1Dc.5272C>T (p.His1758Tyr)
n.2211C>T
n.647C>T
c.5212C>T (p.His1738Tyr)
c.5167C>T (p.His1723Tyr)
c.1333C>T
n.568C>T
n.639C>T
c.5239C>T (p.His1747Tyr)
c.4291C>T (p.His1431Tyr)
c.5467C>T (p.His1823Tyr)
c.5356C>T (p.His1786Tyr)
c.5278C>T (p.His1760Tyr)
c.4930C>T (p.His1644Tyr)
c.4555C>T (p.His1519Tyr)
c.5362C>T (p.His1788Tyr)
c.5464C>T (p.His1822Tyr)
c.5407C>T (p.His1803Tyr)
c.5383C>T (p.His1795Tyr)
c.5338C>T (p.His1780Tyr)
3g.53801230A=CA1365484172CACNA1Dc.5273A= (p.His1758=)
n.2212A=
n.648A=
c.5213A= (p.His1738=)
c.5168A= (p.His1723=)
c.1334A=
n.569A=
n.640A=
c.5240A= (p.His1747=)
c.4292A= (p.His1431=)
c.5468A= (p.His1823=)
c.5357A= (p.His1786=)
c.5279A= (p.His1760=)
c.4931A= (p.His1644=)
c.4556A= (p.His1519=)
c.5363A= (p.His1788=)
c.5465A= (p.His1822=)
c.5408A= (p.His1803=)
c.5384A= (p.His1795=)
c.5339A= (p.His1780=)
3g.53801230A>CCA353250609CACNA1Dc.5273A>C (p.His1758Pro)
n.2212A>C
n.648A>C
c.5213A>C (p.His1738Pro)
c.5168A>C (p.His1723Pro)
c.1334A>C
n.569A>C
n.640A>C
c.5240A>C (p.His1747Pro)
c.4292A>C (p.His1431Pro)
c.5468A>C (p.His1823Pro)
c.5357A>C (p.His1786Pro)
c.5279A>C (p.His1760Pro)
c.4931A>C (p.His1644Pro)
c.4556A>C (p.His1519Pro)
c.5363A>C (p.His1788Pro)
c.5465A>C (p.His1822Pro)
c.5408A>C (p.His1803Pro)
c.5384A>C (p.His1795Pro)
c.5339A>C (p.His1780Pro)
 dbSNP
3g.53801230A>GCA353250612CACNA1Dc.5273A>G (p.His1758Arg)
n.2212A>G
n.648A>G
c.5213A>G (p.His1738Arg)
c.5168A>G (p.His1723Arg)
c.1334A>G
n.569A>G
n.640A>G
c.5240A>G (p.His1747Arg)
c.4292A>G (p.His1431Arg)
c.5468A>G (p.His1823Arg)
c.5357A>G (p.His1786Arg)
c.5279A>G (p.His1760Arg)
c.4931A>G (p.His1644Arg)
c.4556A>G (p.His1519Arg)
c.5363A>G (p.His1788Arg)
c.5465A>G (p.His1822Arg)
c.5408A>G (p.His1803Arg)
c.5384A>G (p.His1795Arg)
c.5339A>G (p.His1780Arg)
3g.53801230A>TCA353250614CACNA1Dc.5273A>T (p.His1758Leu)
n.2212A>T
n.648A>T
c.5213A>T (p.His1738Leu)
c.5168A>T (p.His1723Leu)
c.1334A>T
n.569A>T
n.640A>T
c.5240A>T (p.His1747Leu)
c.4292A>T (p.His1431Leu)
c.5468A>T (p.His1823Leu)
c.5357A>T (p.His1786Leu)
c.5279A>T (p.His1760Leu)
c.4931A>T (p.His1644Leu)
c.4556A>T (p.His1519Leu)
c.5363A>T (p.His1788Leu)
c.5465A>T (p.His1822Leu)
c.5408A>T (p.His1803Leu)
c.5384A>T (p.His1795Leu)
c.5339A>T (p.His1780Leu)
3g.53801231T>ACA353250616CACNA1Dc.5274T>A (p.His1758Gln)
n.2213T>A
n.649T>A
c.5214T>A (p.His1738Gln)
c.5169T>A (p.His1723Gln)
c.1335T>A
n.570T>A
n.641T>A
c.5241T>A (p.His1747Gln)
c.4293T>A (p.His1431Gln)
c.5469T>A (p.His1823Gln)
c.5358T>A (p.His1786Gln)
c.5280T>A (p.His1760Gln)
c.4932T>A (p.His1644Gln)
c.4557T>A (p.His1519Gln)
c.5364T>A (p.His1788Gln)
c.5466T>A (p.His1822Gln)
c.5409T>A (p.His1803Gln)
c.5385T>A (p.His1795Gln)
c.5340T>A (p.His1780Gln)
3g.53801231T>CCA433896090CACNA1Dc.5274T>C (p.His1758=)
n.2213T>C
n.649T>C
c.5214T>C (p.His1738=)
c.5169T>C (p.His1723=)
c.1335T>C
n.570T>C
n.641T>C
c.5241T>C (p.His1747=)
c.4293T>C (p.His1431=)
c.5469T>C (p.His1823=)
c.5358T>C (p.His1786=)
c.5280T>C (p.His1760=)
c.4932T>C (p.His1644=)
c.4557T>C (p.His1519=)
c.5364T>C (p.His1788=)
c.5466T>C (p.His1822=)
c.5409T>C (p.His1803=)
c.5385T>C (p.His1795=)
c.5340T>C (p.His1780=)
3g.53801231T>GCA353250618CACNA1Dc.5274T>G (p.His1758Gln)
n.2213T>G
n.649T>G
c.5214T>G (p.His1738Gln)
c.5169T>G (p.His1723Gln)
c.1335T>G
n.570T>G
n.641T>G
c.5241T>G (p.His1747Gln)
c.4293T>G (p.His1431Gln)
c.5469T>G (p.His1823Gln)
c.5358T>G (p.His1786Gln)
c.5280T>G (p.His1760Gln)
c.4932T>G (p.His1644Gln)
c.4557T>G (p.His1519Gln)
c.5364T>G (p.His1788Gln)
c.5466T>G (p.His1822Gln)
c.5409T>G (p.His1803Gln)
c.5385T>G (p.His1795Gln)
c.5340T>G (p.His1780Gln)
3g.53801232A>CCA353250620CACNA1Dc.5275A>C (p.Asn1759His)
n.2214A>C
n.650A>C
c.5215A>C (p.Asn1739His)
c.5170A>C (p.Asn1724His)
c.1336A>C
n.571A>C
n.642A>C
c.5242A>C (p.Asn1748His)
c.4294A>C (p.Asn1432His)
c.5470A>C (p.Asn1824His)
c.5359A>C (p.Asn1787His)
c.5281A>C (p.Asn1761His)
c.4933A>C (p.Asn1645His)
c.4558A>C (p.Asn1520His)
c.5365A>C (p.Asn1789His)
c.5467A>C (p.Asn1823His)
c.5410A>C (p.Asn1804His)
c.5386A>C (p.Asn1796His)
c.5341A>C (p.Asn1781His)
3g.53801232A>GCA353250624CACNA1Dc.5275A>G (p.Asn1759Asp)
n.2214A>G
n.650A>G
c.5215A>G (p.Asn1739Asp)
c.5170A>G (p.Asn1724Asp)
c.1336A>G
n.571A>G
n.642A>G
c.5242A>G (p.Asn1748Asp)
c.4294A>G (p.Asn1432Asp)
c.5470A>G (p.Asn1824Asp)
c.5359A>G (p.Asn1787Asp)
c.5281A>G (p.Asn1761Asp)
c.4933A>G (p.Asn1645Asp)
c.4558A>G (p.Asn1520Asp)
c.5365A>G (p.Asn1789Asp)
c.5467A>G (p.Asn1823Asp)
c.5410A>G (p.Asn1804Asp)
c.5386A>G (p.Asn1796Asp)
c.5341A>G (p.Asn1781Asp)
3g.53801232A>TCA353250622CACNA1Dc.5275A>T (p.Asn1759Tyr)
n.2214A>T
n.650A>T
c.5215A>T (p.Asn1739Tyr)
c.5170A>T (p.Asn1724Tyr)
c.1336A>T
n.571A>T
n.642A>T
c.5242A>T (p.Asn1748Tyr)
c.4294A>T (p.Asn1432Tyr)
c.5470A>T (p.Asn1824Tyr)
c.5359A>T (p.Asn1787Tyr)
c.5281A>T (p.Asn1761Tyr)
c.4933A>T (p.Asn1645Tyr)
c.4558A>T (p.Asn1520Tyr)
c.5365A>T (p.Asn1789Tyr)
c.5467A>T (p.Asn1823Tyr)
c.5410A>T (p.Asn1804Tyr)
c.5386A>T (p.Asn1796Tyr)
c.5341A>T (p.Asn1781Tyr)
3g.53801233A=CA1365484173CACNA1Dc.5276A= (p.Asn1759=)
n.2215A=
n.651A=
c.5216A= (p.Asn1739=)
c.5171A= (p.Asn1724=)
c.1337A=
n.572A=
n.643A=
c.5243A= (p.Asn1748=)
c.4295A= (p.Asn1432=)
c.5471A= (p.Asn1824=)
c.5360A= (p.Asn1787=)
c.5282A= (p.Asn1761=)
c.4934A= (p.Asn1645=)
c.4559A= (p.Asn1520=)
c.5366A= (p.Asn1789=)
c.5468A= (p.Asn1823=)
c.5411A= (p.Asn1804=)
c.5387A= (p.Asn1796=)
c.5342A= (p.Asn1781=)
3g.53801233A>CCA353250627CACNA1Dc.5276A>C (p.Asn1759Thr)
n.2215A>C
n.651A>C
c.5216A>C (p.Asn1739Thr)
c.5171A>C (p.Asn1724Thr)
c.1337A>C
n.572A>C
n.643A>C
c.5243A>C (p.Asn1748Thr)
c.4295A>C (p.Asn1432Thr)
c.5471A>C (p.Asn1824Thr)
c.5360A>C (p.Asn1787Thr)
c.5282A>C (p.Asn1761Thr)
c.4934A>C (p.Asn1645Thr)
c.4559A>C (p.Asn1520Thr)
c.5366A>C (p.Asn1789Thr)
c.5468A>C (p.Asn1823Thr)
c.5411A>C (p.Asn1804Thr)
c.5387A>C (p.Asn1796Thr)
c.5342A>C (p.Asn1781Thr)
3g.53801233A>GCA353250629CACNA1Dc.5276A>G (p.Asn1759Ser)
n.2215A>G
n.651A>G
c.5216A>G (p.Asn1739Ser)
c.5171A>G (p.Asn1724Ser)
c.1337A>G
n.572A>G
n.643A>G
c.5243A>G (p.Asn1748Ser)
c.4295A>G (p.Asn1432Ser)
c.5471A>G (p.Asn1824Ser)
c.5360A>G (p.Asn1787Ser)
c.5282A>G (p.Asn1761Ser)
c.4934A>G (p.Asn1645Ser)
c.4559A>G (p.Asn1520Ser)
c.5366A>G (p.Asn1789Ser)
c.5468A>G (p.Asn1823Ser)
c.5411A>G (p.Asn1804Ser)
c.5387A>G (p.Asn1796Ser)
c.5342A>G (p.Asn1781Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.53801233A>TCA353250630CACNA1Dc.5276A>T (p.Asn1759Ile)
n.2215A>T
n.651A>T
c.5216A>T (p.Asn1739Ile)
c.5171A>T (p.Asn1724Ile)
c.1337A>T
n.572A>T
n.643A>T
c.5243A>T (p.Asn1748Ile)
c.4295A>T (p.Asn1432Ile)
c.5471A>T (p.Asn1824Ile)
c.5360A>T (p.Asn1787Ile)
c.5282A>T (p.Asn1761Ile)
c.4934A>T (p.Asn1645Ile)
c.4559A>T (p.Asn1520Ile)
c.5366A>T (p.Asn1789Ile)
c.5468A>T (p.Asn1823Ile)
c.5411A>T (p.Asn1804Ile)
c.5387A>T (p.Asn1796Ile)
c.5342A>T (p.Asn1781Ile)
3g.53801234C>ACA353250633CACNA1Dc.5277C>A (p.Asn1759Lys)
n.2216C>A
n.652C>A
c.5217C>A (p.Asn1739Lys)
c.5172C>A (p.Asn1724Lys)
c.1338C>A
n.573C>A
n.644C>A
c.5244C>A (p.Asn1748Lys)
c.4296C>A (p.Asn1432Lys)
c.5472C>A (p.Asn1824Lys)
c.5361C>A (p.Asn1787Lys)
c.5283C>A (p.Asn1761Lys)
c.4935C>A (p.Asn1645Lys)
c.4560C>A (p.Asn1520Lys)
c.5367C>A (p.Asn1789Lys)
c.5469C>A (p.Asn1823Lys)
c.5412C>A (p.Asn1804Lys)
c.5388C>A (p.Asn1796Lys)
c.5343C>A (p.Asn1781Lys)
3g.53801234C>GCA353250635CACNA1Dc.5277C>G (p.Asn1759Lys)
n.2216C>G
n.652C>G
c.5217C>G (p.Asn1739Lys)
c.5172C>G (p.Asn1724Lys)
c.1338C>G
n.573C>G
n.644C>G
c.5244C>G (p.Asn1748Lys)
c.4296C>G (p.Asn1432Lys)
c.5472C>G (p.Asn1824Lys)
c.5361C>G (p.Asn1787Lys)
c.5283C>G (p.Asn1761Lys)
c.4935C>G (p.Asn1645Lys)
c.4560C>G (p.Asn1520Lys)
c.5367C>G (p.Asn1789Lys)
c.5469C>G (p.Asn1823Lys)
c.5412C>G (p.Asn1804Lys)
c.5388C>G (p.Asn1796Lys)
c.5343C>G (p.Asn1781Lys)
3g.53801234C>TCA433896094CACNA1Dc.5277C>T (p.Asn1759=)
n.2216C>T
n.652C>T
c.5217C>T (p.Asn1739=)
c.5172C>T (p.Asn1724=)
c.1338C>T
n.573C>T
n.644C>T
c.5244C>T (p.Asn1748=)
c.4296C>T (p.Asn1432=)
c.5472C>T (p.Asn1824=)
c.5361C>T (p.Asn1787=)
c.5283C>T (p.Asn1761=)
c.4935C>T (p.Asn1645=)
c.4560C>T (p.Asn1520=)
c.5367C>T (p.Asn1789=)
c.5469C>T (p.Asn1823=)
c.5412C>T (p.Asn1804=)
c.5388C>T (p.Asn1796=)
c.5343C>T (p.Asn1781=)
3g.53801235C>ACA353250638CACNA1Dc.5278C>A (p.His1760Asn)
n.2217C>A
n.653C>A
c.5218C>A (p.His1740Asn)
c.5173C>A (p.His1725Asn)
c.1339C>A
n.574C>A
n.645C>A
c.5245C>A (p.His1749Asn)
c.4297C>A (p.His1433Asn)
c.5473C>A (p.His1825Asn)
c.5362C>A (p.His1788Asn)
c.5284C>A (p.His1762Asn)
c.4936C>A (p.His1646Asn)
c.4561C>A (p.His1521Asn)
c.5368C>A (p.His1790Asn)
c.5470C>A (p.His1824Asn)
c.5413C>A (p.His1805Asn)
c.5389C>A (p.His1797Asn)
c.5344C>A (p.His1782Asn)
3g.53801235C=CA1365484174CACNA1Dc.5278C= (p.His1760=)
n.2217C=
n.653C=
c.5218C= (p.His1740=)
c.5173C= (p.His1725=)
c.1339C=
n.574C=
n.645C=
c.5245C= (p.His1749=)
c.4297C= (p.His1433=)
c.5473C= (p.His1825=)
c.5362C= (p.His1788=)
c.5284C= (p.His1762=)
c.4936C= (p.His1646=)
c.4561C= (p.His1521=)
c.5368C= (p.His1790=)
c.5470C= (p.His1824=)
c.5413C= (p.His1805=)
c.5389C= (p.His1797=)
c.5344C= (p.His1782=)
3g.53801235C>GCA353250639CACNA1Dc.5278C>G (p.His1760Asp)
n.2217C>G
n.653C>G
c.5218C>G (p.His1740Asp)
c.5173C>G (p.His1725Asp)
c.1339C>G
n.574C>G
n.645C>G
c.5245C>G (p.His1749Asp)
c.4297C>G (p.His1433Asp)
c.5473C>G (p.His1825Asp)
c.5362C>G (p.His1788Asp)
c.5284C>G (p.His1762Asp)
c.4936C>G (p.His1646Asp)
c.4561C>G (p.His1521Asp)
c.5368C>G (p.His1790Asp)
c.5470C>G (p.His1824Asp)
c.5413C>G (p.His1805Asp)
c.5389C>G (p.His1797Asp)
c.5344C>G (p.His1782Asp)
3g.53801235C>TCA353250641CACNA1Dc.5278C>T (p.His1760Tyr)
n.2217C>T
n.653C>T
c.5218C>T (p.His1740Tyr)
c.5173C>T (p.His1725Tyr)
c.1339C>T
n.574C>T
n.645C>T
c.5245C>T (p.His1749Tyr)
c.4297C>T (p.His1433Tyr)
c.5473C>T (p.His1825Tyr)
c.5362C>T (p.His1788Tyr)
c.5284C>T (p.His1762Tyr)
c.4936C>T (p.His1646Tyr)
c.4561C>T (p.His1521Tyr)
c.5368C>T (p.His1790Tyr)
c.5470C>T (p.His1824Tyr)
c.5413C>T (p.His1805Tyr)
c.5389C>T (p.His1797Tyr)
c.5344C>T (p.His1782Tyr)
 ClinVar dbSNP gnomAD v3 gnomAD v4

Number of alleles fetched