Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.53801341G>ACA353251078CACNA1Dc.5384G>A (p.Gly1795Glu)
n.2323G>A
n.759G>A
c.5324G>A (p.Gly1775Glu)
c.5279G>A (p.Gly1760Glu)
c.1445G>A
n.680G>A
n.751G>A
c.5351G>A (p.Gly1784Glu)
n.78G>A
c.4403G>A (p.Gly1468Glu)
c.5579G>A (p.Gly1860Glu)
c.5468G>A (p.Gly1823Glu)
c.5390G>A (p.Gly1797Glu)
c.5042G>A (p.Gly1681Glu)
c.4667G>A (p.Gly1556Glu)
c.5474G>A (p.Gly1825Glu)
c.5576G>A (p.Gly1859Glu)
c.5519G>A (p.Gly1840Glu)
c.5495G>A (p.Gly1832Glu)
c.5450G>A (p.Gly1817Glu)
3g.53801341G>CCA353251079CACNA1Dc.5384G>C (p.Gly1795Ala)
n.2323G>C
n.759G>C
c.5324G>C (p.Gly1775Ala)
c.5279G>C (p.Gly1760Ala)
c.1445G>C
n.680G>C
n.751G>C
c.5351G>C (p.Gly1784Ala)
n.78G>C
c.4403G>C (p.Gly1468Ala)
c.5579G>C (p.Gly1860Ala)
c.5468G>C (p.Gly1823Ala)
c.5390G>C (p.Gly1797Ala)
c.5042G>C (p.Gly1681Ala)
c.4667G>C (p.Gly1556Ala)
c.5474G>C (p.Gly1825Ala)
c.5576G>C (p.Gly1859Ala)
c.5519G>C (p.Gly1840Ala)
c.5495G>C (p.Gly1832Ala)
c.5450G>C (p.Gly1817Ala)
3g.53801341G>TCA353251080CACNA1Dc.5384G>T (p.Gly1795Val)
n.2323G>T
n.759G>T
c.5324G>T (p.Gly1775Val)
c.5279G>T (p.Gly1760Val)
c.1445G>T
n.680G>T
n.751G>T
c.5351G>T (p.Gly1784Val)
n.78G>T
c.4403G>T (p.Gly1468Val)
c.5579G>T (p.Gly1860Val)
c.5468G>T (p.Gly1823Val)
c.5390G>T (p.Gly1797Val)
c.5042G>T (p.Gly1681Val)
c.4667G>T (p.Gly1556Val)
c.5474G>T (p.Gly1825Val)
c.5576G>T (p.Gly1859Val)
c.5519G>T (p.Gly1840Val)
c.5495G>T (p.Gly1832Val)
c.5450G>T (p.Gly1817Val)
3g.53801342G>ACA2455105CACNA1Dc.5385G>A (p.Gly1795=)
n.2324G>A
n.760G>A
c.5325G>A (p.Gly1775=)
c.5280G>A (p.Gly1760=)
c.1446G>A
n.681G>A
n.752G>A
c.5352G>A (p.Gly1784=)
n.79G>A
c.4404G>A (p.Gly1468=)
c.5580G>A (p.Gly1860=)
c.5469G>A (p.Gly1823=)
c.5391G>A (p.Gly1797=)
c.5043G>A (p.Gly1681=)
c.4668G>A (p.Gly1556=)
c.5475G>A (p.Gly1825=)
c.5577G>A (p.Gly1859=)
c.5520G>A (p.Gly1840=)
c.5496G>A (p.Gly1832=)
c.5451G>A (p.Gly1817=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.53801342G>CCA433896200CACNA1Dc.5385G>C (p.Gly1795=)
n.2324G>C
n.760G>C
c.5325G>C (p.Gly1775=)
c.5280G>C (p.Gly1760=)
c.1446G>C
n.681G>C
n.752G>C
c.5352G>C (p.Gly1784=)
n.79G>C
c.4404G>C (p.Gly1468=)
c.5580G>C (p.Gly1860=)
c.5469G>C (p.Gly1823=)
c.5391G>C (p.Gly1797=)
c.5043G>C (p.Gly1681=)
c.4668G>C (p.Gly1556=)
c.5475G>C (p.Gly1825=)
c.5577G>C (p.Gly1859=)
c.5520G>C (p.Gly1840=)
c.5496G>C (p.Gly1832=)
c.5451G>C (p.Gly1817=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.53801342G=CA1365484214CACNA1Dc.5385G= (p.Gly1795=)
n.2324G=
n.760G=
c.5325G= (p.Gly1775=)
c.5280G= (p.Gly1760=)
c.1446G=
n.681G=
n.752G=
c.5352G= (p.Gly1784=)
n.79G=
c.4404G= (p.Gly1468=)
c.5580G= (p.Gly1860=)
c.5469G= (p.Gly1823=)
c.5391G= (p.Gly1797=)
c.5043G= (p.Gly1681=)
c.4668G= (p.Gly1556=)
c.5475G= (p.Gly1825=)
c.5577G= (p.Gly1859=)
c.5520G= (p.Gly1840=)
c.5496G= (p.Gly1832=)
c.5451G= (p.Gly1817=)
3g.53801342G>TCA433896201CACNA1Dc.5385G>T (p.Gly1795=)
n.2324G>T
n.760G>T
c.5325G>T (p.Gly1775=)
c.5280G>T (p.Gly1760=)
c.1446G>T
n.681G>T
n.752G>T
c.5352G>T (p.Gly1784=)
n.79G>T
c.4404G>T (p.Gly1468=)
c.5580G>T (p.Gly1860=)
c.5469G>T (p.Gly1823=)
c.5391G>T (p.Gly1797=)
c.5043G>T (p.Gly1681=)
c.4668G>T (p.Gly1556=)
c.5475G>T (p.Gly1825=)
c.5577G>T (p.Gly1859=)
c.5520G>T (p.Gly1840=)
c.5496G>T (p.Gly1832=)
c.5451G>T (p.Gly1817=)
3g.53801343A>CCA353251081CACNA1Dc.5386A>C (p.Asn1796His)
n.2325A>C
n.761A>C
c.5326A>C (p.Asn1776His)
c.5281A>C (p.Asn1761His)
c.1447A>C
n.682A>C
n.753A>C
c.5353A>C (p.Asn1785His)
n.80A>C
c.4405A>C (p.Asn1469His)
c.5581A>C (p.Asn1861His)
c.5470A>C (p.Asn1824His)
c.5392A>C (p.Asn1798His)
c.5044A>C (p.Asn1682His)
c.4669A>C (p.Asn1557His)
c.5476A>C (p.Asn1826His)
c.5578A>C (p.Asn1860His)
c.5521A>C (p.Asn1841His)
c.5497A>C (p.Asn1833His)
c.5452A>C (p.Asn1818His)
3g.53801343A>GCA353251082CACNA1Dc.5386A>G (p.Asn1796Asp)
n.2325A>G
n.761A>G
c.5326A>G (p.Asn1776Asp)
c.5281A>G (p.Asn1761Asp)
c.1447A>G
n.682A>G
n.753A>G
c.5353A>G (p.Asn1785Asp)
n.80A>G
c.4405A>G (p.Asn1469Asp)
c.5581A>G (p.Asn1861Asp)
c.5470A>G (p.Asn1824Asp)
c.5392A>G (p.Asn1798Asp)
c.5044A>G (p.Asn1682Asp)
c.4669A>G (p.Asn1557Asp)
c.5476A>G (p.Asn1826Asp)
c.5578A>G (p.Asn1860Asp)
c.5521A>G (p.Asn1841Asp)
c.5497A>G (p.Asn1833Asp)
c.5452A>G (p.Asn1818Asp)
3g.53801343A>TCA353251083CACNA1Dc.5386A>T (p.Asn1796Tyr)
n.2325A>T
n.761A>T
c.5326A>T (p.Asn1776Tyr)
c.5281A>T (p.Asn1761Tyr)
c.1447A>T
n.682A>T
n.753A>T
c.5353A>T (p.Asn1785Tyr)
n.80A>T
c.4405A>T (p.Asn1469Tyr)
c.5581A>T (p.Asn1861Tyr)
c.5470A>T (p.Asn1824Tyr)
c.5392A>T (p.Asn1798Tyr)
c.5044A>T (p.Asn1682Tyr)
c.4669A>T (p.Asn1557Tyr)
c.5476A>T (p.Asn1826Tyr)
c.5578A>T (p.Asn1860Tyr)
c.5521A>T (p.Asn1841Tyr)
c.5497A>T (p.Asn1833Tyr)
c.5452A>T (p.Asn1818Tyr)
3g.53801344A>CCA353251084CACNA1Dc.5387A>C (p.Asn1796Thr)
n.2326A>C
n.762A>C
c.5327A>C (p.Asn1776Thr)
c.5282A>C (p.Asn1761Thr)
c.1448A>C
n.683A>C
n.754A>C
c.5354A>C (p.Asn1785Thr)
n.81A>C
c.4406A>C (p.Asn1469Thr)
c.5582A>C (p.Asn1861Thr)
c.5471A>C (p.Asn1824Thr)
c.5393A>C (p.Asn1798Thr)
c.5045A>C (p.Asn1682Thr)
c.4670A>C (p.Asn1557Thr)
c.5477A>C (p.Asn1826Thr)
c.5579A>C (p.Asn1860Thr)
c.5522A>C (p.Asn1841Thr)
c.5498A>C (p.Asn1833Thr)
c.5453A>C (p.Asn1818Thr)
3g.53801344A>GCA353251085CACNA1Dc.5387A>G (p.Asn1796Ser)
n.2326A>G
n.762A>G
c.5327A>G (p.Asn1776Ser)
c.5282A>G (p.Asn1761Ser)
c.1448A>G
n.683A>G
n.754A>G
c.5354A>G (p.Asn1785Ser)
n.81A>G
c.4406A>G (p.Asn1469Ser)
c.5582A>G (p.Asn1861Ser)
c.5471A>G (p.Asn1824Ser)
c.5393A>G (p.Asn1798Ser)
c.5045A>G (p.Asn1682Ser)
c.4670A>G (p.Asn1557Ser)
c.5477A>G (p.Asn1826Ser)
c.5579A>G (p.Asn1860Ser)
c.5522A>G (p.Asn1841Ser)
c.5498A>G (p.Asn1833Ser)
c.5453A>G (p.Asn1818Ser)
 gnomAD v4
3g.53801344A>TCA353251086CACNA1Dc.5387A>T (p.Asn1796Ile)
n.2326A>T
n.762A>T
c.5327A>T (p.Asn1776Ile)
c.5282A>T (p.Asn1761Ile)
c.1448A>T
n.683A>T
n.754A>T
c.5354A>T (p.Asn1785Ile)
n.81A>T
c.4406A>T (p.Asn1469Ile)
c.5582A>T (p.Asn1861Ile)
c.5471A>T (p.Asn1824Ile)
c.5393A>T (p.Asn1798Ile)
c.5045A>T (p.Asn1682Ile)
c.4670A>T (p.Asn1557Ile)
c.5477A>T (p.Asn1826Ile)
c.5579A>T (p.Asn1860Ile)
c.5522A>T (p.Asn1841Ile)
c.5498A>T (p.Asn1833Ile)
c.5453A>T (p.Asn1818Ile)
3g.53801345C>ACA353251087CACNA1Dc.5388C>A (p.Asn1796Lys)
n.2327C>A
n.763C>A
c.5328C>A (p.Asn1776Lys)
c.5283C>A (p.Asn1761Lys)
c.1449C>A
n.684C>A
n.755C>A
c.5355C>A (p.Asn1785Lys)
n.82C>A
c.4407C>A (p.Asn1469Lys)
c.5583C>A (p.Asn1861Lys)
c.5472C>A (p.Asn1824Lys)
c.5394C>A (p.Asn1798Lys)
c.5046C>A (p.Asn1682Lys)
c.4671C>A (p.Asn1557Lys)
c.5478C>A (p.Asn1826Lys)
c.5580C>A (p.Asn1860Lys)
c.5523C>A (p.Asn1841Lys)
c.5499C>A (p.Asn1833Lys)
c.5454C>A (p.Asn1818Lys)
3g.53801345C>GCA353251088CACNA1Dc.5388C>G (p.Asn1796Lys)
n.2327C>G
n.763C>G
c.5328C>G (p.Asn1776Lys)
c.5283C>G (p.Asn1761Lys)
c.1449C>G
n.684C>G
n.755C>G
c.5355C>G (p.Asn1785Lys)
n.82C>G
c.4407C>G (p.Asn1469Lys)
c.5583C>G (p.Asn1861Lys)
c.5472C>G (p.Asn1824Lys)
c.5394C>G (p.Asn1798Lys)
c.5046C>G (p.Asn1682Lys)
c.4671C>G (p.Asn1557Lys)
c.5478C>G (p.Asn1826Lys)
c.5580C>G (p.Asn1860Lys)
c.5523C>G (p.Asn1841Lys)
c.5499C>G (p.Asn1833Lys)
c.5454C>G (p.Asn1818Lys)
3g.53801345C>TCA433896202CACNA1Dc.5388C>T (p.Asn1796=)
n.2327C>T
n.763C>T
c.5328C>T (p.Asn1776=)
c.5283C>T (p.Asn1761=)
c.1449C>T
n.684C>T
n.755C>T
c.5355C>T (p.Asn1785=)
n.82C>T
c.4407C>T (p.Asn1469=)
c.5583C>T (p.Asn1861=)
c.5472C>T (p.Asn1824=)
c.5394C>T (p.Asn1798=)
c.5046C>T (p.Asn1682=)
c.4671C>T (p.Asn1557=)
c.5478C>T (p.Asn1826=)
c.5580C>T (p.Asn1860=)
c.5523C>T (p.Asn1841=)
c.5499C>T (p.Asn1833=)
c.5454C>T (p.Asn1818=)
3g.53801346C>ACA353251091CACNA1Dc.5389C>A (p.Leu1797Ile)
n.2328C>A
n.764C>A
c.5329C>A (p.Leu1777Ile)
c.5284C>A (p.Leu1762Ile)
c.1450C>A
n.685C>A
n.756C>A
c.5356C>A (p.Leu1786Ile)
n.83C>A
c.4408C>A (p.Leu1470Ile)
c.5584C>A (p.Leu1862Ile)
c.5473C>A (p.Leu1825Ile)
c.5395C>A (p.Leu1799Ile)
c.5047C>A (p.Leu1683Ile)
c.4672C>A (p.Leu1558Ile)
c.5479C>A (p.Leu1827Ile)
c.5581C>A (p.Leu1861Ile)
c.5524C>A (p.Leu1842Ile)
c.5500C>A (p.Leu1834Ile)
c.5455C>A (p.Leu1819Ile)
3g.53801346C>GCA353251090CACNA1Dc.5389C>G (p.Leu1797Val)
n.2328C>G
n.764C>G
c.5329C>G (p.Leu1777Val)
c.5284C>G (p.Leu1762Val)
c.1450C>G
n.685C>G
n.756C>G
c.5356C>G (p.Leu1786Val)
n.83C>G
c.4408C>G (p.Leu1470Val)
c.5584C>G (p.Leu1862Val)
c.5473C>G (p.Leu1825Val)
c.5395C>G (p.Leu1799Val)
c.5047C>G (p.Leu1683Val)
c.4672C>G (p.Leu1558Val)
c.5479C>G (p.Leu1827Val)
c.5581C>G (p.Leu1861Val)
c.5524C>G (p.Leu1842Val)
c.5500C>G (p.Leu1834Val)
c.5455C>G (p.Leu1819Val)
3g.53801346C>TCA353251089CACNA1Dc.5389C>T (p.Leu1797Phe)
n.2328C>T
n.764C>T
c.5329C>T (p.Leu1777Phe)
c.5284C>T (p.Leu1762Phe)
c.1450C>T
n.685C>T
n.756C>T
c.5356C>T (p.Leu1786Phe)
n.83C>T
c.4408C>T (p.Leu1470Phe)
c.5584C>T (p.Leu1862Phe)
c.5473C>T (p.Leu1825Phe)
c.5395C>T (p.Leu1799Phe)
c.5047C>T (p.Leu1683Phe)
c.4672C>T (p.Leu1558Phe)
c.5479C>T (p.Leu1827Phe)
c.5581C>T (p.Leu1861Phe)
c.5524C>T (p.Leu1842Phe)
c.5500C>T (p.Leu1834Phe)
c.5455C>T (p.Leu1819Phe)
 ClinVar dbSNP
3g.53801347T>ACA353251094CACNA1Dc.5390T>A (p.Leu1797His)
n.2329T>A
n.765T>A
c.5330T>A (p.Leu1777His)
c.5285T>A (p.Leu1762His)
c.1451T>A
n.686T>A
n.757T>A
c.5357T>A (p.Leu1786His)
n.84T>A
c.4409T>A (p.Leu1470His)
c.5585T>A (p.Leu1862His)
c.5474T>A (p.Leu1825His)
c.5396T>A (p.Leu1799His)
c.5048T>A (p.Leu1683His)
c.4673T>A (p.Leu1558His)
c.5480T>A (p.Leu1827His)
c.5582T>A (p.Leu1861His)
c.5525T>A (p.Leu1842His)
c.5501T>A (p.Leu1834His)
c.5456T>A (p.Leu1819His)
3g.53801347T>CCA353251092CACNA1Dc.5390T>C (p.Leu1797Pro)
n.2329T>C
n.765T>C
c.5330T>C (p.Leu1777Pro)
c.5285T>C (p.Leu1762Pro)
c.1451T>C
n.686T>C
n.757T>C
c.5357T>C (p.Leu1786Pro)
n.84T>C
c.4409T>C (p.Leu1470Pro)
c.5585T>C (p.Leu1862Pro)
c.5474T>C (p.Leu1825Pro)
c.5396T>C (p.Leu1799Pro)
c.5048T>C (p.Leu1683Pro)
c.4673T>C (p.Leu1558Pro)
c.5480T>C (p.Leu1827Pro)
c.5582T>C (p.Leu1861Pro)
c.5525T>C (p.Leu1842Pro)
c.5501T>C (p.Leu1834Pro)
c.5456T>C (p.Leu1819Pro)
3g.53801347T>GCA353251093CACNA1Dc.5390T>G (p.Leu1797Arg)
n.2329T>G
n.765T>G
c.5330T>G (p.Leu1777Arg)
c.5285T>G (p.Leu1762Arg)
c.1451T>G
n.686T>G
n.757T>G
c.5357T>G (p.Leu1786Arg)
n.84T>G
c.4409T>G (p.Leu1470Arg)
c.5585T>G (p.Leu1862Arg)
c.5474T>G (p.Leu1825Arg)
c.5396T>G (p.Leu1799Arg)
c.5048T>G (p.Leu1683Arg)
c.4673T>G (p.Leu1558Arg)
c.5480T>G (p.Leu1827Arg)
c.5582T>G (p.Leu1861Arg)
c.5525T>G (p.Leu1842Arg)
c.5501T>G (p.Leu1834Arg)
c.5456T>G (p.Leu1819Arg)
3g.53801348T>ACA433804099CACNA1Dc.5391T>A (p.Leu1797=)
n.2330T>A
n.766T>A
c.5331T>A (p.Leu1777=)
c.5286T>A (p.Leu1762=)
c.1452T>A
n.687T>A
n.758T>A
c.5358T>A (p.Leu1786=)
n.85T>A
c.4410T>A (p.Leu1470=)
c.5586T>A (p.Leu1862=)
c.5475T>A (p.Leu1825=)
c.5397T>A (p.Leu1799=)
c.5049T>A (p.Leu1683=)
c.4674T>A (p.Leu1558=)
c.5481T>A (p.Leu1827=)
c.5583T>A (p.Leu1861=)
c.5526T>A (p.Leu1842=)
c.5502T>A (p.Leu1834=)
c.5457T>A (p.Leu1819=)
3g.53801348T>CCA2455106CACNA1Dc.5391T>C (p.Leu1797=)
n.2330T>C
n.766T>C
c.5331T>C (p.Leu1777=)
c.5286T>C (p.Leu1762=)
c.1452T>C
n.687T>C
n.758T>C
c.5358T>C (p.Leu1786=)
n.85T>C
c.4410T>C (p.Leu1470=)
c.5586T>C (p.Leu1862=)
c.5475T>C (p.Leu1825=)
c.5397T>C (p.Leu1799=)
c.5049T>C (p.Leu1683=)
c.4674T>C (p.Leu1558=)
c.5481T>C (p.Leu1827=)
c.5583T>C (p.Leu1861=)
c.5526T>C (p.Leu1842=)
c.5502T>C (p.Leu1834=)
c.5457T>C (p.Leu1819=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.53801348T>GCA433804100CACNA1Dc.5391T>G (p.Leu1797=)
n.2330T>G
n.766T>G
c.5331T>G (p.Leu1777=)
c.5286T>G (p.Leu1762=)
c.1452T>G
n.687T>G
n.758T>G
c.5358T>G (p.Leu1786=)
n.85T>G
c.4410T>G (p.Leu1470=)
c.5586T>G (p.Leu1862=)
c.5475T>G (p.Leu1825=)
c.5397T>G (p.Leu1799=)
c.5049T>G (p.Leu1683=)
c.4674T>G (p.Leu1558=)
c.5481T>G (p.Leu1827=)
c.5583T>G (p.Leu1861=)
c.5526T>G (p.Leu1842=)
c.5502T>G (p.Leu1834=)
c.5457T>G (p.Leu1819=)
3g.53801348T=CA1365484215CACNA1Dc.5391T= (p.Leu1797=)
n.2330T=
n.766T=
c.5331T= (p.Leu1777=)
c.5286T= (p.Leu1762=)
c.1452T=
n.687T=
n.758T=
c.5358T= (p.Leu1786=)
n.85T=
c.4410T= (p.Leu1470=)
c.5586T= (p.Leu1862=)
c.5475T= (p.Leu1825=)
c.5397T= (p.Leu1799=)
c.5049T= (p.Leu1683=)
c.4674T= (p.Leu1558=)
c.5481T= (p.Leu1827=)
c.5583T= (p.Leu1861=)
c.5526T= (p.Leu1842=)
c.5502T= (p.Leu1834=)
c.5457T= (p.Leu1819=)
3g.53801349G>ACA353251535CACNA1Dc.5392G>A (p.Glu1798Lys)
n.2331G>A
n.767G>A
c.5332G>A (p.Glu1778Lys)
c.5287G>A (p.Glu1763Lys)
c.1453G>A
n.688G>A
n.759G>A
c.5359G>A (p.Glu1787Lys)
n.86G>A
c.4411G>A (p.Glu1471Lys)
c.5587G>A (p.Glu1863Lys)
c.5476G>A (p.Glu1826Lys)
c.5398G>A (p.Glu1800Lys)
c.5050G>A (p.Glu1684Lys)
c.4675G>A (p.Glu1559Lys)
c.5482G>A (p.Glu1828Lys)
c.5584G>A (p.Glu1862Lys)
c.5527G>A (p.Glu1843Lys)
c.5503G>A (p.Glu1835Lys)
c.5458G>A (p.Glu1820Lys)
 ClinVar dbSNP gnomAD v4
3g.53801349G>CCA353251537CACNA1Dc.5392G>C (p.Glu1798Gln)
n.2331G>C
n.767G>C
c.5332G>C (p.Glu1778Gln)
c.5287G>C (p.Glu1763Gln)
c.1453G>C
n.688G>C
n.759G>C
c.5359G>C (p.Glu1787Gln)
n.86G>C
c.4411G>C (p.Glu1471Gln)
c.5587G>C (p.Glu1863Gln)
c.5476G>C (p.Glu1826Gln)
c.5398G>C (p.Glu1800Gln)
c.5050G>C (p.Glu1684Gln)
c.4675G>C (p.Glu1559Gln)
c.5482G>C (p.Glu1828Gln)
c.5584G>C (p.Glu1862Gln)
c.5527G>C (p.Glu1843Gln)
c.5503G>C (p.Glu1835Gln)
c.5458G>C (p.Glu1820Gln)
3g.53801349G>TCA353251539CACNA1Dc.5392G>T (p.Glu1798Ter)
n.2331G>T
n.767G>T
c.5332G>T (p.Glu1778Ter)
c.5287G>T (p.Glu1763Ter)
c.1453G>T
n.688G>T
n.759G>T
c.5359G>T (p.Glu1787Ter)
n.86G>T
c.4411G>T (p.Glu1471Ter)
c.5587G>T (p.Glu1863Ter)
c.5476G>T (p.Glu1826Ter)
c.5398G>T (p.Glu1800Ter)
c.5050G>T (p.Glu1684Ter)
c.4675G>T (p.Glu1559Ter)
c.5482G>T (p.Glu1828Ter)
c.5584G>T (p.Glu1862Ter)
c.5527G>T (p.Glu1843Ter)
c.5503G>T (p.Glu1835Ter)
c.5458G>T (p.Glu1820Ter)
3g.53801349_53801351dupCA543193894CACNA1Dc.5392_5394dup (p.Glu1798_His1799insGlu)
n.2331_2333dup
n.767_769dup
c.5332_5334dup (p.Glu1778_His1779insGlu)
c.5287_5289dup (p.Glu1763_His1764insGlu)
c.1453_1455dup
n.688_690dup
n.759_761dup
c.5359_5361dup (p.Glu1787_His1788insGlu)
n.86_88dup
c.4411_4413dup (p.Glu1471_His1472insGlu)
c.5587_5589dup (p.Glu1863_His1864insGlu)
c.5476_5478dup (p.Glu1826_His1827insGlu)
c.5398_5400dup (p.Glu1800_His1801insGlu)
c.5050_5052dup (p.Glu1684_His1685insGlu)
c.4675_4677dup (p.Glu1559_His1560insGlu)
c.5482_5484dup (p.Glu1828_His1829insGlu)
c.5584_5586dup (p.Glu1862_His1863insGlu)
c.5527_5529dup (p.Glu1843_His1844insGlu)
c.5503_5505dup (p.Glu1835_His1836insGlu)
c.5458_5460dup (p.Glu1820_His1821insGlu)
 dbSNP gnomAD v2 gnomAD v4
3g.53801350A>CCA353251545CACNA1Dc.5393A>C (p.Glu1798Ala)
n.2332A>C
n.768A>C
c.5333A>C (p.Glu1778Ala)
c.5288A>C (p.Glu1763Ala)
c.1454A>C
n.689A>C
n.760A>C
c.5360A>C (p.Glu1787Ala)
n.87A>C
c.4412A>C (p.Glu1471Ala)
c.5588A>C (p.Glu1863Ala)
c.5477A>C (p.Glu1826Ala)
c.5399A>C (p.Glu1800Ala)
c.5051A>C (p.Glu1684Ala)
c.4676A>C (p.Glu1559Ala)
c.5483A>C (p.Glu1828Ala)
c.5585A>C (p.Glu1862Ala)
c.5528A>C (p.Glu1843Ala)
c.5504A>C (p.Glu1835Ala)
c.5459A>C (p.Glu1820Ala)
3g.53801350A>GCA353251542CACNA1Dc.5393A>G (p.Glu1798Gly)
n.2332A>G
n.768A>G
c.5333A>G (p.Glu1778Gly)
c.5288A>G (p.Glu1763Gly)
c.1454A>G
n.689A>G
n.760A>G
c.5360A>G (p.Glu1787Gly)
n.87A>G
c.4412A>G (p.Glu1471Gly)
c.5588A>G (p.Glu1863Gly)
c.5477A>G (p.Glu1826Gly)
c.5399A>G (p.Glu1800Gly)
c.5051A>G (p.Glu1684Gly)
c.4676A>G (p.Glu1559Gly)
c.5483A>G (p.Glu1828Gly)
c.5585A>G (p.Glu1862Gly)
c.5528A>G (p.Glu1843Gly)
c.5504A>G (p.Glu1835Gly)
c.5459A>G (p.Glu1820Gly)
3g.53801350A>TCA353251543CACNA1Dc.5393A>T (p.Glu1798Val)
n.2332A>T
n.768A>T
c.5333A>T (p.Glu1778Val)
c.5288A>T (p.Glu1763Val)
c.1454A>T
n.689A>T
n.760A>T
c.5360A>T (p.Glu1787Val)
n.87A>T
c.4412A>T (p.Glu1471Val)
c.5588A>T (p.Glu1863Val)
c.5477A>T (p.Glu1826Val)
c.5399A>T (p.Glu1800Val)
c.5051A>T (p.Glu1684Val)
c.4676A>T (p.Glu1559Val)
c.5483A>T (p.Glu1828Val)
c.5585A>T (p.Glu1862Val)
c.5528A>T (p.Glu1843Val)
c.5504A>T (p.Glu1835Val)
c.5459A>T (p.Glu1820Val)
3g.53801351G>ACA433804101CACNA1Dc.5394G>A (p.Glu1798=)
n.2333G>A
n.769G>A
c.5334G>A (p.Glu1778=)
c.5289G>A (p.Glu1763=)
c.1455G>A
n.690G>A
n.761G>A
c.5361G>A (p.Glu1787=)
n.88G>A
c.4413G>A (p.Glu1471=)
c.5589G>A (p.Glu1863=)
c.5478G>A (p.Glu1826=)
c.5400G>A (p.Glu1800=)
c.5052G>A (p.Glu1684=)
c.4677G>A (p.Glu1559=)
c.5484G>A (p.Glu1828=)
c.5586G>A (p.Glu1862=)
c.5529G>A (p.Glu1843=)
c.5505G>A (p.Glu1835=)
c.5460G>A (p.Glu1820=)
 gnomAD v4
3g.53801351G>CCA353251547CACNA1Dc.5394G>C (p.Glu1798Asp)
n.2333G>C
n.769G>C
c.5334G>C (p.Glu1778Asp)
c.5289G>C (p.Glu1763Asp)
c.1455G>C
n.690G>C
n.761G>C
c.5361G>C (p.Glu1787Asp)
n.88G>C
c.4413G>C (p.Glu1471Asp)
c.5589G>C (p.Glu1863Asp)
c.5478G>C (p.Glu1826Asp)
c.5400G>C (p.Glu1800Asp)
c.5052G>C (p.Glu1684Asp)
c.4677G>C (p.Glu1559Asp)
c.5484G>C (p.Glu1828Asp)
c.5586G>C (p.Glu1862Asp)
c.5529G>C (p.Glu1843Asp)
c.5505G>C (p.Glu1835Asp)
c.5460G>C (p.Glu1820Asp)
3g.53801351G>TCA353251549CACNA1Dc.5394G>T (p.Glu1798Asp)
n.2333G>T
n.769G>T
c.5334G>T (p.Glu1778Asp)
c.5289G>T (p.Glu1763Asp)
c.1455G>T
n.690G>T
n.761G>T
c.5361G>T (p.Glu1787Asp)
n.88G>T
c.4413G>T (p.Glu1471Asp)
c.5589G>T (p.Glu1863Asp)
c.5478G>T (p.Glu1826Asp)
c.5400G>T (p.Glu1800Asp)
c.5052G>T (p.Glu1684Asp)
c.4677G>T (p.Glu1559Asp)
c.5484G>T (p.Glu1828Asp)
c.5586G>T (p.Glu1862Asp)
c.5529G>T (p.Glu1843Asp)
c.5505G>T (p.Glu1835Asp)
c.5460G>T (p.Glu1820Asp)
3g.53801352C>ACA353251551CACNA1Dc.5395C>A (p.His1799Asn)
n.2334C>A
n.770C>A
c.5335C>A (p.His1779Asn)
c.5290C>A (p.His1764Asn)
c.1456C>A
n.691C>A
n.762C>A
c.5362C>A (p.His1788Asn)
n.89C>A
c.4414C>A (p.His1472Asn)
c.5590C>A (p.His1864Asn)
c.5479C>A (p.His1827Asn)
c.5401C>A (p.His1801Asn)
c.5053C>A (p.His1685Asn)
c.4678C>A (p.His1560Asn)
c.5485C>A (p.His1829Asn)
c.5587C>A (p.His1863Asn)
c.5530C>A (p.His1844Asn)
c.5506C>A (p.His1836Asn)
c.5461C>A (p.His1821Asn)
3g.53801352C>GCA353251553CACNA1Dc.5395C>G (p.His1799Asp)
n.2334C>G
n.770C>G
c.5335C>G (p.His1779Asp)
c.5290C>G (p.His1764Asp)
c.1456C>G
n.691C>G
n.762C>G
c.5362C>G (p.His1788Asp)
n.89C>G
c.4414C>G (p.His1472Asp)
c.5590C>G (p.His1864Asp)
c.5479C>G (p.His1827Asp)
c.5401C>G (p.His1801Asp)
c.5053C>G (p.His1685Asp)
c.4678C>G (p.His1560Asp)
c.5485C>G (p.His1829Asp)
c.5587C>G (p.His1863Asp)
c.5530C>G (p.His1844Asp)
c.5506C>G (p.His1836Asp)
c.5461C>G (p.His1821Asp)
3g.53801352C>TCA353251554CACNA1Dc.5395C>T (p.His1799Tyr)
n.2334C>T
n.770C>T
c.5335C>T (p.His1779Tyr)
c.5290C>T (p.His1764Tyr)
c.1456C>T
n.691C>T
n.762C>T
c.5362C>T (p.His1788Tyr)
n.89C>T
c.4414C>T (p.His1472Tyr)
c.5590C>T (p.His1864Tyr)
c.5479C>T (p.His1827Tyr)
c.5401C>T (p.His1801Tyr)
c.5053C>T (p.His1685Tyr)
c.4678C>T (p.His1560Tyr)
c.5485C>T (p.His1829Tyr)
c.5587C>T (p.His1863Tyr)
c.5530C>T (p.His1844Tyr)
c.5506C>T (p.His1836Tyr)
c.5461C>T (p.His1821Tyr)
3g.53801353A=CA1365484216CACNA1Dc.5396A= (p.His1799=)
n.2335A=
n.771A=
c.5336A= (p.His1779=)
c.5291A= (p.His1764=)
c.1457A=
n.692A=
n.763A=
c.5363A= (p.His1788=)
n.90A=
c.4415A= (p.His1472=)
c.5591A= (p.His1864=)
c.5480A= (p.His1827=)
c.5402A= (p.His1801=)
c.5054A= (p.His1685=)
c.4679A= (p.His1560=)
c.5486A= (p.His1829=)
c.5588A= (p.His1863=)
c.5531A= (p.His1844=)
c.5507A= (p.His1836=)
c.5462A= (p.His1821=)
3g.53801353A>CCA353251556CACNA1Dc.5396A>C (p.His1799Pro)
n.2335A>C
n.771A>C
c.5336A>C (p.His1779Pro)
c.5291A>C (p.His1764Pro)
c.1457A>C
n.692A>C
n.763A>C
c.5363A>C (p.His1788Pro)
n.90A>C
c.4415A>C (p.His1472Pro)
c.5591A>C (p.His1864Pro)
c.5480A>C (p.His1827Pro)
c.5402A>C (p.His1801Pro)
c.5054A>C (p.His1685Pro)
c.4679A>C (p.His1560Pro)
c.5486A>C (p.His1829Pro)
c.5588A>C (p.His1863Pro)
c.5531A>C (p.His1844Pro)
c.5507A>C (p.His1836Pro)
c.5462A>C (p.His1821Pro)
3g.53801353A>GCA353251559CACNA1Dc.5396A>G (p.His1799Arg)
n.2335A>G
n.771A>G
c.5336A>G (p.His1779Arg)
c.5291A>G (p.His1764Arg)
c.1457A>G
n.692A>G
n.763A>G
c.5363A>G (p.His1788Arg)
n.90A>G
c.4415A>G (p.His1472Arg)
c.5591A>G (p.His1864Arg)
c.5480A>G (p.His1827Arg)
c.5402A>G (p.His1801Arg)
c.5054A>G (p.His1685Arg)
c.4679A>G (p.His1560Arg)
c.5486A>G (p.His1829Arg)
c.5588A>G (p.His1863Arg)
c.5531A>G (p.His1844Arg)
c.5507A>G (p.His1836Arg)
c.5462A>G (p.His1821Arg)
3g.53801353A>TCA74859993CACNA1Dc.5396A>T (p.His1799Leu)
n.2335A>T
n.771A>T
c.5336A>T (p.His1779Leu)
c.5291A>T (p.His1764Leu)
c.1457A>T
n.692A>T
n.763A>T
c.5363A>T (p.His1788Leu)
n.90A>T
c.4415A>T (p.His1472Leu)
c.5591A>T (p.His1864Leu)
c.5480A>T (p.His1827Leu)
c.5402A>T (p.His1801Leu)
c.5054A>T (p.His1685Leu)
c.4679A>T (p.His1560Leu)
c.5486A>T (p.His1829Leu)
c.5588A>T (p.His1863Leu)
c.5531A>T (p.His1844Leu)
c.5507A>T (p.His1836Leu)
c.5462A>T (p.His1821Leu)
 dbSNP
3g.53801354T>ACA353251562CACNA1Dc.5397T>A (p.His1799Gln)
n.2336T>A
n.772T>A
c.5337T>A (p.His1779Gln)
c.5292T>A (p.His1764Gln)
c.1458T>A
n.693T>A
n.764T>A
c.5364T>A (p.His1788Gln)
n.91T>A
c.4416T>A (p.His1472Gln)
c.5592T>A (p.His1864Gln)
c.5481T>A (p.His1827Gln)
c.5403T>A (p.His1801Gln)
c.5055T>A (p.His1685Gln)
c.4680T>A (p.His1560Gln)
c.5487T>A (p.His1829Gln)
c.5589T>A (p.His1863Gln)
c.5532T>A (p.His1844Gln)
c.5508T>A (p.His1836Gln)
c.5463T>A (p.His1821Gln)
3g.53801354T>CCA433804102CACNA1Dc.5397T>C (p.His1799=)
n.2336T>C
n.772T>C
c.5337T>C (p.His1779=)
c.5292T>C (p.His1764=)
c.1458T>C
n.693T>C
n.764T>C
c.5364T>C (p.His1788=)
n.91T>C
c.4416T>C (p.His1472=)
c.5592T>C (p.His1864=)
c.5481T>C (p.His1827=)
c.5403T>C (p.His1801=)
c.5055T>C (p.His1685=)
c.4680T>C (p.His1560=)
c.5487T>C (p.His1829=)
c.5589T>C (p.His1863=)
c.5532T>C (p.His1844=)
c.5508T>C (p.His1836=)
c.5463T>C (p.His1821=)
3g.53801354T>GCA353251563CACNA1Dc.5397T>G (p.His1799Gln)
n.2336T>G
n.772T>G
c.5337T>G (p.His1779Gln)
c.5292T>G (p.His1764Gln)
c.1458T>G
n.693T>G
n.764T>G
c.5364T>G (p.His1788Gln)
n.91T>G
c.4416T>G (p.His1472Gln)
c.5592T>G (p.His1864Gln)
c.5481T>G (p.His1827Gln)
c.5403T>G (p.His1801Gln)
c.5055T>G (p.His1685Gln)
c.4680T>G (p.His1560Gln)
c.5487T>G (p.His1829Gln)
c.5589T>G (p.His1863Gln)
c.5532T>G (p.His1844Gln)
c.5508T>G (p.His1836Gln)
c.5463T>G (p.His1821Gln)
3g.53801355G>ACA353251566CACNA1Dc.5398G>A (p.Val1800Met)
n.2337G>A
n.773G>A
c.5338G>A (p.Val1780Met)
c.5293G>A (p.Val1765Met)
c.1459G>A
n.694G>A
n.765G>A
c.5365G>A (p.Val1789Met)
n.92G>A
c.4417G>A (p.Val1473Met)
c.5593G>A (p.Val1865Met)
c.5482G>A (p.Val1828Met)
c.5404G>A (p.Val1802Met)
c.5056G>A (p.Val1686Met)
c.4681G>A (p.Val1561Met)
c.5488G>A (p.Val1830Met)
c.5590G>A (p.Val1864Met)
c.5533G>A (p.Val1845Met)
c.5509G>A (p.Val1837Met)
c.5464G>A (p.Val1822Met)
 ClinVar dbSNP gnomAD v4
3g.53801355G>CCA353251568CACNA1Dc.5398G>C (p.Val1800Leu)
n.2337G>C
n.773G>C
c.5338G>C (p.Val1780Leu)
c.5293G>C (p.Val1765Leu)
c.1459G>C
n.694G>C
n.765G>C
c.5365G>C (p.Val1789Leu)
n.92G>C
c.4417G>C (p.Val1473Leu)
c.5593G>C (p.Val1865Leu)
c.5482G>C (p.Val1828Leu)
c.5404G>C (p.Val1802Leu)
c.5056G>C (p.Val1686Leu)
c.4681G>C (p.Val1561Leu)
c.5488G>C (p.Val1830Leu)
c.5590G>C (p.Val1864Leu)
c.5533G>C (p.Val1845Leu)
c.5509G>C (p.Val1837Leu)
c.5464G>C (p.Val1822Leu)
3g.53801355G=CA1365484217CACNA1Dc.5398G= (p.Val1800=)
n.2337G=
n.773G=
c.5338G= (p.Val1780=)
c.5293G= (p.Val1765=)
c.1459G=
n.694G=
n.765G=
c.5365G= (p.Val1789=)
n.92G=
c.4417G= (p.Val1473=)
c.5593G= (p.Val1865=)
c.5482G= (p.Val1828=)
c.5404G= (p.Val1802=)
c.5056G= (p.Val1686=)
c.4681G= (p.Val1561=)
c.5488G= (p.Val1830=)
c.5590G= (p.Val1864=)
c.5533G= (p.Val1845=)
c.5509G= (p.Val1837=)
c.5464G= (p.Val1822=)
3g.53801355G>TCA353251570CACNA1Dc.5398G>T (p.Val1800Leu)
n.2337G>T
n.773G>T
c.5338G>T (p.Val1780Leu)
c.5293G>T (p.Val1765Leu)
c.1459G>T
n.694G>T
n.765G>T
c.5365G>T (p.Val1789Leu)
n.92G>T
c.4417G>T (p.Val1473Leu)
c.5593G>T (p.Val1865Leu)
c.5482G>T (p.Val1828Leu)
c.5404G>T (p.Val1802Leu)
c.5056G>T (p.Val1686Leu)
c.4681G>T (p.Val1561Leu)
c.5488G>T (p.Val1830Leu)
c.5590G>T (p.Val1864Leu)
c.5533G>T (p.Val1845Leu)
c.5509G>T (p.Val1837Leu)
c.5464G>T (p.Val1822Leu)
3g.53801356T>ACA353251572CACNA1Dc.5399T>A (p.Val1800Glu)
n.2338T>A
n.774T>A
c.5339T>A (p.Val1780Glu)
c.5294T>A (p.Val1765Glu)
c.1460T>A
n.695T>A
n.766T>A
c.5366T>A (p.Val1789Glu)
n.93T>A
c.4418T>A (p.Val1473Glu)
c.5594T>A (p.Val1865Glu)
c.5483T>A (p.Val1828Glu)
c.5405T>A (p.Val1802Glu)
c.5057T>A (p.Val1686Glu)
c.4682T>A (p.Val1561Glu)
c.5489T>A (p.Val1830Glu)
c.5591T>A (p.Val1864Glu)
c.5534T>A (p.Val1845Glu)
c.5510T>A (p.Val1837Glu)
c.5465T>A (p.Val1822Glu)
3g.53801356T>CCA353251574CACNA1Dc.5399T>C (p.Val1800Ala)
n.2338T>C
n.774T>C
c.5339T>C (p.Val1780Ala)
c.5294T>C (p.Val1765Ala)
c.1460T>C
n.695T>C
n.766T>C
c.5366T>C (p.Val1789Ala)
n.93T>C
c.4418T>C (p.Val1473Ala)
c.5594T>C (p.Val1865Ala)
c.5483T>C (p.Val1828Ala)
c.5405T>C (p.Val1802Ala)
c.5057T>C (p.Val1686Ala)
c.4682T>C (p.Val1561Ala)
c.5489T>C (p.Val1830Ala)
c.5591T>C (p.Val1864Ala)
c.5534T>C (p.Val1845Ala)
c.5510T>C (p.Val1837Ala)
c.5465T>C (p.Val1822Ala)
3g.53801356T>GCA353251576CACNA1Dc.5399T>G (p.Val1800Gly)
n.2338T>G
n.774T>G
c.5339T>G (p.Val1780Gly)
c.5294T>G (p.Val1765Gly)
c.1460T>G
n.695T>G
n.766T>G
c.5366T>G (p.Val1789Gly)
n.93T>G
c.4418T>G (p.Val1473Gly)
c.5594T>G (p.Val1865Gly)
c.5483T>G (p.Val1828Gly)
c.5405T>G (p.Val1802Gly)
c.5057T>G (p.Val1686Gly)
c.4682T>G (p.Val1561Gly)
c.5489T>G (p.Val1830Gly)
c.5591T>G (p.Val1864Gly)
c.5534T>G (p.Val1845Gly)
c.5510T>G (p.Val1837Gly)
c.5465T>G (p.Val1822Gly)
3g.53801357G>ACA2455107CACNA1Dc.5400G>A (p.Val1800=)
n.2339G>A
n.775G>A
c.5340G>A (p.Val1780=)
c.5295G>A (p.Val1765=)
c.1461G>A
n.696G>A
n.767G>A
c.5367G>A (p.Val1789=)
n.94G>A
c.4419G>A (p.Val1473=)
c.5595G>A (p.Val1865=)
c.5484G>A (p.Val1828=)
c.5406G>A (p.Val1802=)
c.5058G>A (p.Val1686=)
c.4683G>A (p.Val1561=)
c.5490G>A (p.Val1830=)
c.5592G>A (p.Val1864=)
c.5535G>A (p.Val1845=)
c.5511G>A (p.Val1837=)
c.5466G>A (p.Val1822=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.53801357G>CCA433804103CACNA1Dc.5400G>C (p.Val1800=)
n.2339G>C
n.775G>C
c.5340G>C (p.Val1780=)
c.5295G>C (p.Val1765=)
c.1461G>C
n.696G>C
n.767G>C
c.5367G>C (p.Val1789=)
n.94G>C
c.4419G>C (p.Val1473=)
c.5595G>C (p.Val1865=)
c.5484G>C (p.Val1828=)
c.5406G>C (p.Val1802=)
c.5058G>C (p.Val1686=)
c.4683G>C (p.Val1561=)
c.5490G>C (p.Val1830=)
c.5592G>C (p.Val1864=)
c.5535G>C (p.Val1845=)
c.5511G>C (p.Val1837=)
c.5466G>C (p.Val1822=)
3g.53801357G=CA1365484218CACNA1Dc.5400G= (p.Val1800=)
n.2339G=
n.775G=
c.5340G= (p.Val1780=)
c.5295G= (p.Val1765=)
c.1461G=
n.696G=
n.767G=
c.5367G= (p.Val1789=)
n.94G=
c.4419G= (p.Val1473=)
c.5595G= (p.Val1865=)
c.5484G= (p.Val1828=)
c.5406G= (p.Val1802=)
c.5058G= (p.Val1686=)
c.4683G= (p.Val1561=)
c.5490G= (p.Val1830=)
c.5592G= (p.Val1864=)
c.5535G= (p.Val1845=)
c.5511G= (p.Val1837=)
c.5466G= (p.Val1822=)
3g.53801357G>TCA433804104CACNA1Dc.5400G>T (p.Val1800=)
n.2339G>T
n.775G>T
c.5340G>T (p.Val1780=)
c.5295G>T (p.Val1765=)
c.1461G>T
n.696G>T
n.767G>T
c.5367G>T (p.Val1789=)
n.94G>T
c.4419G>T (p.Val1473=)
c.5595G>T (p.Val1865=)
c.5484G>T (p.Val1828=)
c.5406G>T (p.Val1802=)
c.5058G>T (p.Val1686=)
c.4683G>T (p.Val1561=)
c.5490G>T (p.Val1830=)
c.5592G>T (p.Val1864=)
c.5535G>T (p.Val1845=)
c.5511G>T (p.Val1837=)
c.5466G>T (p.Val1822=)
3g.53801358T>ACA353251580CACNA1Dc.5401T>A (p.Ser1801Thr)
n.2340T>A
n.776T>A
c.5341T>A (p.Ser1781Thr)
c.5296T>A (p.Ser1766Thr)
c.1462T>A
n.697T>A
n.768T>A
c.5368T>A (p.Ser1790Thr)
n.95T>A
c.4420T>A (p.Ser1474Thr)
c.5596T>A (p.Ser1866Thr)
c.5485T>A (p.Ser1829Thr)
c.5407T>A (p.Ser1803Thr)
c.5059T>A (p.Ser1687Thr)
c.4684T>A (p.Ser1562Thr)
c.5491T>A (p.Ser1831Thr)
c.5593T>A (p.Ser1865Thr)
c.5536T>A (p.Ser1846Thr)
c.5512T>A (p.Ser1838Thr)
c.5467T>A (p.Ser1823Thr)
3g.53801358T>CCA353251582CACNA1Dc.5401T>C (p.Ser1801Pro)
n.2340T>C
n.776T>C
c.5341T>C (p.Ser1781Pro)
c.5296T>C (p.Ser1766Pro)
c.1462T>C
n.697T>C
n.768T>C
c.5368T>C (p.Ser1790Pro)
n.95T>C
c.4420T>C (p.Ser1474Pro)
c.5596T>C (p.Ser1866Pro)
c.5485T>C (p.Ser1829Pro)
c.5407T>C (p.Ser1803Pro)
c.5059T>C (p.Ser1687Pro)
c.4684T>C (p.Ser1562Pro)
c.5491T>C (p.Ser1831Pro)
c.5593T>C (p.Ser1865Pro)
c.5536T>C (p.Ser1846Pro)
c.5512T>C (p.Ser1838Pro)
c.5467T>C (p.Ser1823Pro)
 gnomAD v4
3g.53801358T>GCA353251584CACNA1Dc.5401T>G (p.Ser1801Ala)
n.2340T>G
n.776T>G
c.5341T>G (p.Ser1781Ala)
c.5296T>G (p.Ser1766Ala)
c.1462T>G
n.697T>G
n.768T>G
c.5368T>G (p.Ser1790Ala)
n.95T>G
c.4420T>G (p.Ser1474Ala)
c.5596T>G (p.Ser1866Ala)
c.5485T>G (p.Ser1829Ala)
c.5407T>G (p.Ser1803Ala)
c.5059T>G (p.Ser1687Ala)
c.4684T>G (p.Ser1562Ala)
c.5491T>G (p.Ser1831Ala)
c.5593T>G (p.Ser1865Ala)
c.5536T>G (p.Ser1846Ala)
c.5512T>G (p.Ser1838Ala)
c.5467T>G (p.Ser1823Ala)
3g.53801359C>ACA353251587CACNA1Dc.5402C>A (p.Ser1801Tyr)
n.2341C>A
n.777C>A
c.5342C>A (p.Ser1781Tyr)
c.5297C>A (p.Ser1766Tyr)
c.1463C>A
n.698C>A
n.769C>A
c.5369C>A (p.Ser1790Tyr)
n.96C>A
c.4421C>A (p.Ser1474Tyr)
c.5597C>A (p.Ser1866Tyr)
c.5486C>A (p.Ser1829Tyr)
c.5408C>A (p.Ser1803Tyr)
c.5060C>A (p.Ser1687Tyr)
c.4685C>A (p.Ser1562Tyr)
c.5492C>A (p.Ser1831Tyr)
c.5594C>A (p.Ser1865Tyr)
c.5537C>A (p.Ser1846Tyr)
c.5513C>A (p.Ser1838Tyr)
c.5468C>A (p.Ser1823Tyr)
3g.53801359C=CA1365484219CACNA1Dc.5402C= (p.Ser1801=)
n.2341C=
n.777C=
c.5342C= (p.Ser1781=)
c.5297C= (p.Ser1766=)
c.1463C=
n.698C=
n.769C=
c.5369C= (p.Ser1790=)
n.96C=
c.4421C= (p.Ser1474=)
c.5597C= (p.Ser1866=)
c.5486C= (p.Ser1829=)
c.5408C= (p.Ser1803=)
c.5060C= (p.Ser1687=)
c.4685C= (p.Ser1562=)
c.5492C= (p.Ser1831=)
c.5594C= (p.Ser1865=)
c.5537C= (p.Ser1846=)
c.5513C= (p.Ser1838=)
c.5468C= (p.Ser1823=)
3g.53801359C>GCA353251589CACNA1Dc.5402C>G (p.Ser1801Cys)
n.2341C>G
n.777C>G
c.5342C>G (p.Ser1781Cys)
c.5297C>G (p.Ser1766Cys)
c.1463C>G
n.698C>G
n.769C>G
c.5369C>G (p.Ser1790Cys)
n.96C>G
c.4421C>G (p.Ser1474Cys)
c.5597C>G (p.Ser1866Cys)
c.5486C>G (p.Ser1829Cys)
c.5408C>G (p.Ser1803Cys)
c.5060C>G (p.Ser1687Cys)
c.4685C>G (p.Ser1562Cys)
c.5492C>G (p.Ser1831Cys)
c.5594C>G (p.Ser1865Cys)
c.5537C>G (p.Ser1846Cys)
c.5513C>G (p.Ser1838Cys)
c.5468C>G (p.Ser1823Cys)
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.53801359C>TCA353251586CACNA1Dc.5402C>T (p.Ser1801Phe)
n.2341C>T
n.777C>T
c.5342C>T (p.Ser1781Phe)
c.5297C>T (p.Ser1766Phe)
c.1463C>T
n.698C>T
n.769C>T
c.5369C>T (p.Ser1790Phe)
n.96C>T
c.4421C>T (p.Ser1474Phe)
c.5597C>T (p.Ser1866Phe)
c.5486C>T (p.Ser1829Phe)
c.5408C>T (p.Ser1803Phe)
c.5060C>T (p.Ser1687Phe)
c.4685C>T (p.Ser1562Phe)
c.5492C>T (p.Ser1831Phe)
c.5594C>T (p.Ser1865Phe)
c.5537C>T (p.Ser1846Phe)
c.5513C>T (p.Ser1838Phe)
c.5468C>T (p.Ser1823Phe)
3g.53801360T>ACA433804105CACNA1Dc.5403T>A (p.Ser1801=)
n.2342T>A
n.778T>A
c.5343T>A (p.Ser1781=)
c.5298T>A (p.Ser1766=)
c.1464T>A
n.699T>A
n.770T>A
c.5370T>A (p.Ser1790=)
n.97T>A
c.4422T>A (p.Ser1474=)
c.5598T>A (p.Ser1866=)
c.5487T>A (p.Ser1829=)
c.5409T>A (p.Ser1803=)
c.5061T>A (p.Ser1687=)
c.4686T>A (p.Ser1562=)
c.5493T>A (p.Ser1831=)
c.5595T>A (p.Ser1865=)
c.5538T>A (p.Ser1846=)
c.5514T>A (p.Ser1838=)
c.5469T>A (p.Ser1823=)
3g.53801360T>CCA433804106CACNA1Dc.5403T>C (p.Ser1801=)
n.2342T>C
n.778T>C
c.5343T>C (p.Ser1781=)
c.5298T>C (p.Ser1766=)
c.1464T>C
n.699T>C
n.770T>C
c.5370T>C (p.Ser1790=)
n.97T>C
c.4422T>C (p.Ser1474=)
c.5598T>C (p.Ser1866=)
c.5487T>C (p.Ser1829=)
c.5409T>C (p.Ser1803=)
c.5061T>C (p.Ser1687=)
c.4686T>C (p.Ser1562=)
c.5493T>C (p.Ser1831=)
c.5595T>C (p.Ser1865=)
c.5538T>C (p.Ser1846=)
c.5514T>C (p.Ser1838=)
c.5469T>C (p.Ser1823=)
3g.53801360T>GCA433804107CACNA1Dc.5403T>G (p.Ser1801=)
n.2342T>G
n.778T>G
c.5343T>G (p.Ser1781=)
c.5298T>G (p.Ser1766=)
c.1464T>G
n.699T>G
n.770T>G
c.5370T>G (p.Ser1790=)
n.97T>G
c.4422T>G (p.Ser1474=)
c.5598T>G (p.Ser1866=)
c.5487T>G (p.Ser1829=)
c.5409T>G (p.Ser1803=)
c.5061T>G (p.Ser1687=)
c.4686T>G (p.Ser1562=)
c.5493T>G (p.Ser1831=)
c.5595T>G (p.Ser1865=)
c.5538T>G (p.Ser1846=)
c.5514T>G (p.Ser1838=)
c.5469T>G (p.Ser1823=)
3g.53801361G>ACA353251592CACNA1Dc.5404G>A (p.Glu1802Lys)
n.2343G>A
n.779G>A
c.5344G>A (p.Glu1782Lys)
c.5299G>A (p.Glu1767Lys)
c.1465G>A
n.700G>A
n.771G>A
c.5371G>A (p.Glu1791Lys)
n.98G>A
c.4423G>A (p.Glu1475Lys)
c.5599G>A (p.Glu1867Lys)
c.5488G>A (p.Glu1830Lys)
c.5410G>A (p.Glu1804Lys)
c.5062G>A (p.Glu1688Lys)
c.4687G>A (p.Glu1563Lys)
c.5494G>A (p.Glu1832Lys)
c.5596G>A (p.Glu1866Lys)
c.5539G>A (p.Glu1847Lys)
c.5515G>A (p.Glu1839Lys)
c.5470G>A (p.Glu1824Lys)
3g.53801361G>CCA353251595CACNA1Dc.5404G>C (p.Glu1802Gln)
n.2343G>C
n.779G>C
c.5344G>C (p.Glu1782Gln)
c.5299G>C (p.Glu1767Gln)
c.1465G>C
n.700G>C
n.771G>C
c.5371G>C (p.Glu1791Gln)
n.98G>C
c.4423G>C (p.Glu1475Gln)
c.5599G>C (p.Glu1867Gln)
c.5488G>C (p.Glu1830Gln)
c.5410G>C (p.Glu1804Gln)
c.5062G>C (p.Glu1688Gln)
c.4687G>C (p.Glu1563Gln)
c.5494G>C (p.Glu1832Gln)
c.5596G>C (p.Glu1866Gln)
c.5539G>C (p.Glu1847Gln)
c.5515G>C (p.Glu1839Gln)
c.5470G>C (p.Glu1824Gln)
3g.53801361G>TCA353251593CACNA1Dc.5404G>T (p.Glu1802Ter)
n.2343G>T
n.779G>T
c.5344G>T (p.Glu1782Ter)
c.5299G>T (p.Glu1767Ter)
c.1465G>T
n.700G>T
n.771G>T
c.5371G>T (p.Glu1791Ter)
n.98G>T
c.4423G>T (p.Glu1475Ter)
c.5599G>T (p.Glu1867Ter)
c.5488G>T (p.Glu1830Ter)
c.5410G>T (p.Glu1804Ter)
c.5062G>T (p.Glu1688Ter)
c.4687G>T (p.Glu1563Ter)
c.5494G>T (p.Glu1832Ter)
c.5596G>T (p.Glu1866Ter)
c.5539G>T (p.Glu1847Ter)
c.5515G>T (p.Glu1839Ter)
c.5470G>T (p.Glu1824Ter)
3g.53801362A>CCA353251598CACNA1Dc.5405A>C (p.Glu1802Ala)
n.2344A>C
n.780A>C
c.5345A>C (p.Glu1782Ala)
c.5300A>C (p.Glu1767Ala)
c.1466A>C
n.701A>C
n.772A>C
c.5372A>C (p.Glu1791Ala)
n.99A>C
c.4424A>C (p.Glu1475Ala)
c.5600A>C (p.Glu1867Ala)
c.5489A>C (p.Glu1830Ala)
c.5411A>C (p.Glu1804Ala)
c.5063A>C (p.Glu1688Ala)
c.4688A>C (p.Glu1563Ala)
c.5495A>C (p.Glu1832Ala)
c.5597A>C (p.Glu1866Ala)
c.5540A>C (p.Glu1847Ala)
c.5516A>C (p.Glu1839Ala)
c.5471A>C (p.Glu1824Ala)
3g.53801362A>GCA353251599CACNA1Dc.5405A>G (p.Glu1802Gly)
n.2344A>G
n.780A>G
c.5345A>G (p.Glu1782Gly)
c.5300A>G (p.Glu1767Gly)
c.1466A>G
n.701A>G
n.772A>G
c.5372A>G (p.Glu1791Gly)
n.99A>G
c.4424A>G (p.Glu1475Gly)
c.5600A>G (p.Glu1867Gly)
c.5489A>G (p.Glu1830Gly)
c.5411A>G (p.Glu1804Gly)
c.5063A>G (p.Glu1688Gly)
c.4688A>G (p.Glu1563Gly)
c.5495A>G (p.Glu1832Gly)
c.5597A>G (p.Glu1866Gly)
c.5540A>G (p.Glu1847Gly)
c.5516A>G (p.Glu1839Gly)
c.5471A>G (p.Glu1824Gly)
3g.53801362A>TCA353251601CACNA1Dc.5405A>T (p.Glu1802Val)
n.2344A>T
n.780A>T
c.5345A>T (p.Glu1782Val)
c.5300A>T (p.Glu1767Val)
c.1466A>T
n.701A>T
n.772A>T
c.5372A>T (p.Glu1791Val)
n.99A>T
c.4424A>T (p.Glu1475Val)
c.5600A>T (p.Glu1867Val)
c.5489A>T (p.Glu1830Val)
c.5411A>T (p.Glu1804Val)
c.5063A>T (p.Glu1688Val)
c.4688A>T (p.Glu1563Val)
c.5495A>T (p.Glu1832Val)
c.5597A>T (p.Glu1866Val)
c.5540A>T (p.Glu1847Val)
c.5516A>T (p.Glu1839Val)
c.5471A>T (p.Glu1824Val)
3g.53801363A=CA1365484220CACNA1Dc.5406A= (p.Glu1802=)
n.2345A=
n.781A=
c.5346A= (p.Glu1782=)
c.5301A= (p.Glu1767=)
c.1467A=
n.702A=
n.773A=
c.5373A= (p.Glu1791=)
n.100A=
c.4425A= (p.Glu1475=)
c.5601A= (p.Glu1867=)
c.5490A= (p.Glu1830=)
c.5412A= (p.Glu1804=)
c.5064A= (p.Glu1688=)
c.4689A= (p.Glu1563=)
c.5496A= (p.Glu1832=)
c.5598A= (p.Glu1866=)
c.5541A= (p.Glu1847=)
c.5517A= (p.Glu1839=)
c.5472A= (p.Glu1824=)
3g.53801363A>CCA353251604CACNA1Dc.5406A>C (p.Glu1802Asp)
n.2345A>C
n.781A>C
c.5346A>C (p.Glu1782Asp)
c.5301A>C (p.Glu1767Asp)
c.1467A>C
n.702A>C
n.773A>C
c.5373A>C (p.Glu1791Asp)
n.100A>C
c.4425A>C (p.Glu1475Asp)
c.5601A>C (p.Glu1867Asp)
c.5490A>C (p.Glu1830Asp)
c.5412A>C (p.Glu1804Asp)
c.5064A>C (p.Glu1688Asp)
c.4689A>C (p.Glu1563Asp)
c.5496A>C (p.Glu1832Asp)
c.5598A>C (p.Glu1866Asp)
c.5541A>C (p.Glu1847Asp)
c.5517A>C (p.Glu1839Asp)
c.5472A>C (p.Glu1824Asp)
3g.53801363A>GCA433804108CACNA1Dc.5406A>G (p.Glu1802=)
n.2345A>G
n.781A>G
c.5346A>G (p.Glu1782=)
c.5301A>G (p.Glu1767=)
c.1467A>G
n.702A>G
n.773A>G
c.5373A>G (p.Glu1791=)
n.100A>G
c.4425A>G (p.Glu1475=)
c.5601A>G (p.Glu1867=)
c.5490A>G (p.Glu1830=)
c.5412A>G (p.Glu1804=)
c.5064A>G (p.Glu1688=)
c.4689A>G (p.Glu1563=)
c.5496A>G (p.Glu1832=)
c.5598A>G (p.Glu1866=)
c.5541A>G (p.Glu1847=)
c.5517A>G (p.Glu1839=)
c.5472A>G (p.Glu1824=)
3g.53801363A>TCA74859994CACNA1Dc.5406A>T (p.Glu1802Asp)
n.2345A>T
n.781A>T
c.5346A>T (p.Glu1782Asp)
c.5301A>T (p.Glu1767Asp)
c.1467A>T
n.702A>T
n.773A>T
c.5373A>T (p.Glu1791Asp)
n.100A>T
c.4425A>T (p.Glu1475Asp)
c.5601A>T (p.Glu1867Asp)
c.5490A>T (p.Glu1830Asp)
c.5412A>T (p.Glu1804Asp)
c.5064A>T (p.Glu1688Asp)
c.4689A>T (p.Glu1563Asp)
c.5496A>T (p.Glu1832Asp)
c.5598A>T (p.Glu1866Asp)
c.5541A>T (p.Glu1847Asp)
c.5517A>T (p.Glu1839Asp)
c.5472A>T (p.Glu1824Asp)
 dbSNP
3g.53801364A>CCA353251607CACNA1Dc.5407A>C (p.Asn1803His)
n.2346A>C
n.782A>C
c.5347A>C (p.Asn1783His)
c.5302A>C (p.Asn1768His)
c.1468A>C
n.703A>C
n.774A>C
c.5374A>C (p.Asn1792His)
n.101A>C
c.4426A>C (p.Asn1476His)
c.5602A>C (p.Asn1868His)
c.5491A>C (p.Asn1831His)
c.5413A>C (p.Asn1805His)
c.5065A>C (p.Asn1689His)
c.4690A>C (p.Asn1564His)
c.5497A>C (p.Asn1833His)
c.5599A>C (p.Asn1867His)
c.5542A>C (p.Asn1848His)
c.5518A>C (p.Asn1840His)
c.5473A>C (p.Asn1825His)
3g.53801364A>GCA353251609CACNA1Dc.5407A>G (p.Asn1803Asp)
n.2346A>G
n.782A>G
c.5347A>G (p.Asn1783Asp)
c.5302A>G (p.Asn1768Asp)
c.1468A>G
n.703A>G
n.774A>G
c.5374A>G (p.Asn1792Asp)
n.101A>G
c.4426A>G (p.Asn1476Asp)
c.5602A>G (p.Asn1868Asp)
c.5491A>G (p.Asn1831Asp)
c.5413A>G (p.Asn1805Asp)
c.5065A>G (p.Asn1689Asp)
c.4690A>G (p.Asn1564Asp)
c.5497A>G (p.Asn1833Asp)
c.5599A>G (p.Asn1867Asp)
c.5542A>G (p.Asn1848Asp)
c.5518A>G (p.Asn1840Asp)
c.5473A>G (p.Asn1825Asp)
 gnomAD v4
3g.53801364A>TCA353251611CACNA1Dc.5407A>T (p.Asn1803Tyr)
n.2346A>T
n.782A>T
c.5347A>T (p.Asn1783Tyr)
c.5302A>T (p.Asn1768Tyr)
c.1468A>T
n.703A>T
n.774A>T
c.5374A>T (p.Asn1792Tyr)
n.101A>T
c.4426A>T (p.Asn1476Tyr)
c.5602A>T (p.Asn1868Tyr)
c.5491A>T (p.Asn1831Tyr)
c.5413A>T (p.Asn1805Tyr)
c.5065A>T (p.Asn1689Tyr)
c.4690A>T (p.Asn1564Tyr)
c.5497A>T (p.Asn1833Tyr)
c.5599A>T (p.Asn1867Tyr)
c.5542A>T (p.Asn1848Tyr)
c.5518A>T (p.Asn1840Tyr)
c.5473A>T (p.Asn1825Tyr)
3g.53801365A=CA1365484221CACNA1Dc.5408A= (p.Asn1803=)
n.2347A=
n.783A=
c.5348A= (p.Asn1783=)
c.5303A= (p.Asn1768=)
c.1469A=
n.704A=
n.775A=
c.5375A= (p.Asn1792=)
n.102A=
c.4427A= (p.Asn1476=)
c.5603A= (p.Asn1868=)
c.5492A= (p.Asn1831=)
c.5414A= (p.Asn1805=)
c.5066A= (p.Asn1689=)
c.4691A= (p.Asn1564=)
c.5498A= (p.Asn1833=)
c.5600A= (p.Asn1867=)
c.5543A= (p.Asn1848=)
c.5519A= (p.Asn1840=)
c.5474A= (p.Asn1825=)
3g.53801365A>CCA353251614CACNA1Dc.5408A>C (p.Asn1803Thr)
n.2347A>C
n.783A>C
c.5348A>C (p.Asn1783Thr)
c.5303A>C (p.Asn1768Thr)
c.1469A>C
n.704A>C
n.775A>C
c.5375A>C (p.Asn1792Thr)
n.102A>C
c.4427A>C (p.Asn1476Thr)
c.5603A>C (p.Asn1868Thr)
c.5492A>C (p.Asn1831Thr)
c.5414A>C (p.Asn1805Thr)
c.5066A>C (p.Asn1689Thr)
c.4691A>C (p.Asn1564Thr)
c.5498A>C (p.Asn1833Thr)
c.5600A>C (p.Asn1867Thr)
c.5543A>C (p.Asn1848Thr)
c.5519A>C (p.Asn1840Thr)
c.5474A>C (p.Asn1825Thr)
3g.53801365A>GCA353251615CACNA1Dc.5408A>G (p.Asn1803Ser)
n.2347A>G
n.783A>G
c.5348A>G (p.Asn1783Ser)
c.5303A>G (p.Asn1768Ser)
c.1469A>G
n.704A>G
n.775A>G
c.5375A>G (p.Asn1792Ser)
n.102A>G
c.4427A>G (p.Asn1476Ser)
c.5603A>G (p.Asn1868Ser)
c.5492A>G (p.Asn1831Ser)
c.5414A>G (p.Asn1805Ser)
c.5066A>G (p.Asn1689Ser)
c.4691A>G (p.Asn1564Ser)
c.5498A>G (p.Asn1833Ser)
c.5600A>G (p.Asn1867Ser)
c.5543A>G (p.Asn1848Ser)
c.5519A>G (p.Asn1840Ser)
c.5474A>G (p.Asn1825Ser)
 dbSNP
3g.53801365A>TCA353251618CACNA1Dc.5408A>T (p.Asn1803Ile)
n.2347A>T
n.783A>T
c.5348A>T (p.Asn1783Ile)
c.5303A>T (p.Asn1768Ile)
c.1469A>T
n.704A>T
n.775A>T
c.5375A>T (p.Asn1792Ile)
n.102A>T
c.4427A>T (p.Asn1476Ile)
c.5603A>T (p.Asn1868Ile)
c.5492A>T (p.Asn1831Ile)
c.5414A>T (p.Asn1805Ile)
c.5066A>T (p.Asn1689Ile)
c.4691A>T (p.Asn1564Ile)
c.5498A>T (p.Asn1833Ile)
c.5600A>T (p.Asn1867Ile)
c.5543A>T (p.Asn1848Ile)
c.5519A>T (p.Asn1840Ile)
c.5474A>T (p.Asn1825Ile)
3g.53801366T>ACA353251619CACNA1Dc.5409T>A (p.Asn1803Lys)
n.2348T>A
n.784T>A
c.5349T>A (p.Asn1783Lys)
c.5304T>A (p.Asn1768Lys)
c.1470T>A
n.705T>A
n.776T>A
c.5376T>A (p.Asn1792Lys)
n.103T>A
c.4428T>A (p.Asn1476Lys)
c.5604T>A (p.Asn1868Lys)
c.5493T>A (p.Asn1831Lys)
c.5415T>A (p.Asn1805Lys)
c.5067T>A (p.Asn1689Lys)
c.4692T>A (p.Asn1564Lys)
c.5499T>A (p.Asn1833Lys)
c.5601T>A (p.Asn1867Lys)
c.5544T>A (p.Asn1848Lys)
c.5520T>A (p.Asn1840Lys)
c.5475T>A (p.Asn1825Lys)
 ClinVar dbSNP gnomAD v4
3g.53801366T>CCA433804109CACNA1Dc.5409T>C (p.Asn1803=)
n.2348T>C
n.784T>C
c.5349T>C (p.Asn1783=)
c.5304T>C (p.Asn1768=)
c.1470T>C
n.705T>C
n.776T>C
c.5376T>C (p.Asn1792=)
n.103T>C
c.4428T>C (p.Asn1476=)
c.5604T>C (p.Asn1868=)
c.5493T>C (p.Asn1831=)
c.5415T>C (p.Asn1805=)
c.5067T>C (p.Asn1689=)
c.4692T>C (p.Asn1564=)
c.5499T>C (p.Asn1833=)
c.5601T>C (p.Asn1867=)
c.5544T>C (p.Asn1848=)
c.5520T>C (p.Asn1840=)
c.5475T>C (p.Asn1825=)
3g.53801366T>GCA353251621CACNA1Dc.5409T>G (p.Asn1803Lys)
n.2348T>G
n.784T>G
c.5349T>G (p.Asn1783Lys)
c.5304T>G (p.Asn1768Lys)
c.1470T>G
n.705T>G
n.776T>G
c.5376T>G (p.Asn1792Lys)
n.103T>G
c.4428T>G (p.Asn1476Lys)
c.5604T>G (p.Asn1868Lys)
c.5493T>G (p.Asn1831Lys)
c.5415T>G (p.Asn1805Lys)
c.5067T>G (p.Asn1689Lys)
c.4692T>G (p.Asn1564Lys)
c.5499T>G (p.Asn1833Lys)
c.5601T>G (p.Asn1867Lys)
c.5544T>G (p.Asn1848Lys)
c.5520T>G (p.Asn1840Lys)
c.5475T>G (p.Asn1825Lys)
 dbSNP gnomAD v2 gnomAD v4
3g.53801366T=CA1365484222CACNA1Dc.5409T= (p.Asn1803=)
n.2348T=
n.784T=
c.5349T= (p.Asn1783=)
c.5304T= (p.Asn1768=)
c.1470T=
n.705T=
n.776T=
c.5376T= (p.Asn1792=)
n.103T=
c.4428T= (p.Asn1476=)
c.5604T= (p.Asn1868=)
c.5493T= (p.Asn1831=)
c.5415T= (p.Asn1805=)
c.5067T= (p.Asn1689=)
c.4692T= (p.Asn1564=)
c.5499T= (p.Asn1833=)
c.5601T= (p.Asn1867=)
c.5544T= (p.Asn1848=)
c.5520T= (p.Asn1840=)
c.5475T= (p.Asn1825=)
3g.53801367G>ACA353251624CACNA1Dc.5410G>A (p.Gly1804Arg)
n.2349G>A
n.785G>A
c.5350G>A (p.Gly1784Arg)
c.5305G>A (p.Gly1769Arg)
c.1471G>A
n.706G>A
n.777G>A
c.5377G>A (p.Gly1793Arg)
n.104G>A
c.4429G>A (p.Gly1477Arg)
c.5605G>A (p.Gly1869Arg)
c.5494G>A (p.Gly1832Arg)
c.5416G>A (p.Gly1806Arg)
c.5068G>A (p.Gly1690Arg)
c.4693G>A (p.Gly1565Arg)
c.5500G>A (p.Gly1834Arg)
c.5602G>A (p.Gly1868Arg)
c.5545G>A (p.Gly1849Arg)
c.5521G>A (p.Gly1841Arg)
c.5476G>A (p.Gly1826Arg)
 gnomAD v4
3g.53801367G>CCA353251628CACNA1Dc.5410G>C (p.Gly1804Arg)
n.2349G>C
n.785G>C
c.5350G>C (p.Gly1784Arg)
c.5305G>C (p.Gly1769Arg)
c.1471G>C
n.706G>C
n.777G>C
c.5377G>C (p.Gly1793Arg)
n.104G>C
c.4429G>C (p.Gly1477Arg)
c.5605G>C (p.Gly1869Arg)
c.5494G>C (p.Gly1832Arg)
c.5416G>C (p.Gly1806Arg)
c.5068G>C (p.Gly1690Arg)
c.4693G>C (p.Gly1565Arg)
c.5500G>C (p.Gly1834Arg)
c.5602G>C (p.Gly1868Arg)
c.5545G>C (p.Gly1849Arg)
c.5521G>C (p.Gly1841Arg)
c.5476G>C (p.Gly1826Arg)
3g.53801367G>TCA353251626CACNA1Dc.5410G>T (p.Gly1804Trp)
n.2349G>T
n.785G>T
c.5350G>T (p.Gly1784Trp)
c.5305G>T (p.Gly1769Trp)
c.1471G>T
n.706G>T
n.777G>T
c.5377G>T (p.Gly1793Trp)
n.104G>T
c.4429G>T (p.Gly1477Trp)
c.5605G>T (p.Gly1869Trp)
c.5494G>T (p.Gly1832Trp)
c.5416G>T (p.Gly1806Trp)
c.5068G>T (p.Gly1690Trp)
c.4693G>T (p.Gly1565Trp)
c.5500G>T (p.Gly1834Trp)
c.5602G>T (p.Gly1868Trp)
c.5545G>T (p.Gly1849Trp)
c.5521G>T (p.Gly1841Trp)
c.5476G>T (p.Gly1826Trp)
3g.53801368G>ACA353251630CACNA1Dc.5411G>A (p.Gly1804Glu)
n.2350G>A
n.786G>A
c.5351G>A (p.Gly1784Glu)
c.5306G>A (p.Gly1769Glu)
c.1472G>A
n.707G>A
n.778G>A
c.5378G>A (p.Gly1793Glu)
n.105G>A
c.4430G>A (p.Gly1477Glu)
c.5606G>A (p.Gly1869Glu)
c.5495G>A (p.Gly1832Glu)
c.5417G>A (p.Gly1806Glu)
c.5069G>A (p.Gly1690Glu)
c.4694G>A (p.Gly1565Glu)
c.5501G>A (p.Gly1834Glu)
c.5603G>A (p.Gly1868Glu)
c.5546G>A (p.Gly1849Glu)
c.5522G>A (p.Gly1841Glu)
c.5477G>A (p.Gly1826Glu)
3g.53801368G>CCA353251632CACNA1Dc.5411G>C (p.Gly1804Ala)
n.2350G>C
n.786G>C
c.5351G>C (p.Gly1784Ala)
c.5306G>C (p.Gly1769Ala)
c.1472G>C
n.707G>C
n.778G>C
c.5378G>C (p.Gly1793Ala)
n.105G>C
c.4430G>C (p.Gly1477Ala)
c.5606G>C (p.Gly1869Ala)
c.5495G>C (p.Gly1832Ala)
c.5417G>C (p.Gly1806Ala)
c.5069G>C (p.Gly1690Ala)
c.4694G>C (p.Gly1565Ala)
c.5501G>C (p.Gly1834Ala)
c.5603G>C (p.Gly1868Ala)
c.5546G>C (p.Gly1849Ala)
c.5522G>C (p.Gly1841Ala)
c.5477G>C (p.Gly1826Ala)
 gnomAD v4
3g.53801368G>TCA353251634CACNA1Dc.5411G>T (p.Gly1804Val)
n.2350G>T
n.786G>T
c.5351G>T (p.Gly1784Val)
c.5306G>T (p.Gly1769Val)
c.1472G>T
n.707G>T
n.778G>T
c.5378G>T (p.Gly1793Val)
n.105G>T
c.4430G>T (p.Gly1477Val)
c.5606G>T (p.Gly1869Val)
c.5495G>T (p.Gly1832Val)
c.5417G>T (p.Gly1806Val)
c.5069G>T (p.Gly1690Val)
c.4694G>T (p.Gly1565Val)
c.5501G>T (p.Gly1834Val)
c.5603G>T (p.Gly1868Val)
c.5546G>T (p.Gly1849Val)
c.5522G>T (p.Gly1841Val)
c.5477G>T (p.Gly1826Val)
3g.53801369G>ACA433804110CACNA1Dc.5412G>A (p.Gly1804=)
n.2351G>A
n.787G>A
c.5352G>A (p.Gly1784=)
c.5307G>A (p.Gly1769=)
c.1473G>A
n.708G>A
n.779G>A
c.5379G>A (p.Gly1793=)
n.106G>A
c.4431G>A (p.Gly1477=)
c.5607G>A (p.Gly1869=)
c.5496G>A (p.Gly1832=)
c.5418G>A (p.Gly1806=)
c.5070G>A (p.Gly1690=)
c.4695G>A (p.Gly1565=)
c.5502G>A (p.Gly1834=)
c.5604G>A (p.Gly1868=)
c.5547G>A (p.Gly1849=)
c.5523G>A (p.Gly1841=)
c.5478G>A (p.Gly1826=)
 gnomAD v4
3g.53801369G>CCA2455108CACNA1Dc.5412G>C (p.Gly1804=)
n.2351G>C
n.787G>C
c.5352G>C (p.Gly1784=)
c.5307G>C (p.Gly1769=)
c.1473G>C
n.708G>C
n.779G>C
c.5379G>C (p.Gly1793=)
n.106G>C
c.4431G>C (p.Gly1477=)
c.5607G>C (p.Gly1869=)
c.5496G>C (p.Gly1832=)
c.5418G>C (p.Gly1806=)
c.5070G>C (p.Gly1690=)
c.4695G>C (p.Gly1565=)
c.5502G>C (p.Gly1834=)
c.5604G>C (p.Gly1868=)
c.5547G>C (p.Gly1849=)
c.5523G>C (p.Gly1841=)
c.5478G>C (p.Gly1826=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.53801369G=CA1365484223CACNA1Dc.5412G= (p.Gly1804=)
n.2351G=
n.787G=
c.5352G= (p.Gly1784=)
c.5307G= (p.Gly1769=)
c.1473G=
n.708G=
n.779G=
c.5379G= (p.Gly1793=)
n.106G=
c.4431G= (p.Gly1477=)
c.5607G= (p.Gly1869=)
c.5496G= (p.Gly1832=)
c.5418G= (p.Gly1806=)
c.5070G= (p.Gly1690=)
c.4695G= (p.Gly1565=)
c.5502G= (p.Gly1834=)
c.5604G= (p.Gly1868=)
c.5547G= (p.Gly1849=)
c.5523G= (p.Gly1841=)
c.5478G= (p.Gly1826=)
3g.53801369G>TCA433804111CACNA1Dc.5412G>T (p.Gly1804=)
n.2351G>T
n.787G>T
c.5352G>T (p.Gly1784=)
c.5307G>T (p.Gly1769=)
c.1473G>T
n.708G>T
n.779G>T
c.5379G>T (p.Gly1793=)
n.106G>T
c.4431G>T (p.Gly1477=)
c.5607G>T (p.Gly1869=)
c.5496G>T (p.Gly1832=)
c.5418G>T (p.Gly1806=)
c.5070G>T (p.Gly1690=)
c.4695G>T (p.Gly1565=)
c.5502G>T (p.Gly1834=)
c.5604G>T (p.Gly1868=)
c.5547G>T (p.Gly1849=)
c.5523G>T (p.Gly1841=)
c.5478G>T (p.Gly1826=)
 gnomAD v4
3g.53801370C>ACA353251638CACNA1Dc.5413C>A (p.His1805Asn)
n.2352C>A
n.788C>A
c.5353C>A (p.His1785Asn)
c.5308C>A (p.His1770Asn)
c.1474C>A
n.709C>A
n.780C>A
c.5380C>A (p.His1794Asn)
n.107C>A
c.4432C>A (p.His1478Asn)
c.5608C>A (p.His1870Asn)
c.5497C>A (p.His1833Asn)
c.5419C>A (p.His1807Asn)
c.5071C>A (p.His1691Asn)
c.4696C>A (p.His1566Asn)
c.5503C>A (p.His1835Asn)
c.5605C>A (p.His1869Asn)
c.5548C>A (p.His1850Asn)
c.5524C>A (p.His1842Asn)
c.5479C>A (p.His1827Asn)
3g.53801370C>GCA353251640CACNA1Dc.5413C>G (p.His1805Asp)
n.2352C>G
n.788C>G
c.5353C>G (p.His1785Asp)
c.5308C>G (p.His1770Asp)
c.1474C>G
n.709C>G
n.780C>G
c.5380C>G (p.His1794Asp)
n.107C>G
c.4432C>G (p.His1478Asp)
c.5608C>G (p.His1870Asp)
c.5497C>G (p.His1833Asp)
c.5419C>G (p.His1807Asp)
c.5071C>G (p.His1691Asp)
c.4696C>G (p.His1566Asp)
c.5503C>G (p.His1835Asp)
c.5605C>G (p.His1869Asp)
c.5548C>G (p.His1850Asp)
c.5524C>G (p.His1842Asp)
c.5479C>G (p.His1827Asp)
3g.53801370C>TCA353251641CACNA1Dc.5413C>T (p.His1805Tyr)
n.2352C>T
n.788C>T
c.5353C>T (p.His1785Tyr)
c.5308C>T (p.His1770Tyr)
c.1474C>T
n.709C>T
n.780C>T
c.5380C>T (p.His1794Tyr)
n.107C>T
c.4432C>T (p.His1478Tyr)
c.5608C>T (p.His1870Tyr)
c.5497C>T (p.His1833Tyr)
c.5419C>T (p.His1807Tyr)
c.5071C>T (p.His1691Tyr)
c.4696C>T (p.His1566Tyr)
c.5503C>T (p.His1835Tyr)
c.5605C>T (p.His1869Tyr)
c.5548C>T (p.His1850Tyr)
c.5524C>T (p.His1842Tyr)
c.5479C>T (p.His1827Tyr)
3g.53801371A>CCA353251644CACNA1Dc.5414A>C (p.His1805Pro)
n.2353A>C
n.789A>C
c.5354A>C (p.His1785Pro)
c.5309A>C (p.His1770Pro)
c.1475A>C
n.710A>C
n.781A>C
c.5381A>C (p.His1794Pro)
n.108A>C
c.4433A>C (p.His1478Pro)
c.5609A>C (p.His1870Pro)
c.5498A>C (p.His1833Pro)
c.5420A>C (p.His1807Pro)
c.5072A>C (p.His1691Pro)
c.4697A>C (p.His1566Pro)
c.5504A>C (p.His1835Pro)
c.5606A>C (p.His1869Pro)
c.5549A>C (p.His1850Pro)
c.5525A>C (p.His1842Pro)
c.5480A>C (p.His1827Pro)
3g.53801371A>GCA353251646CACNA1Dc.5414A>G (p.His1805Arg)
n.2353A>G
n.789A>G
c.5354A>G (p.His1785Arg)
c.5309A>G (p.His1770Arg)
c.1475A>G
n.710A>G
n.781A>G
c.5381A>G (p.His1794Arg)
n.108A>G
c.4433A>G (p.His1478Arg)
c.5609A>G (p.His1870Arg)
c.5498A>G (p.His1833Arg)
c.5420A>G (p.His1807Arg)
c.5072A>G (p.His1691Arg)
c.4697A>G (p.His1566Arg)
c.5504A>G (p.His1835Arg)
c.5606A>G (p.His1869Arg)
c.5549A>G (p.His1850Arg)
c.5525A>G (p.His1842Arg)
c.5480A>G (p.His1827Arg)
3g.53801371A>TCA353251647CACNA1Dc.5414A>T (p.His1805Leu)
n.2353A>T
n.789A>T
c.5354A>T (p.His1785Leu)
c.5309A>T (p.His1770Leu)
c.1475A>T
n.710A>T
n.781A>T
c.5381A>T (p.His1794Leu)
n.108A>T
c.4433A>T (p.His1478Leu)
c.5609A>T (p.His1870Leu)
c.5498A>T (p.His1833Leu)
c.5420A>T (p.His1807Leu)
c.5072A>T (p.His1691Leu)
c.4697A>T (p.His1566Leu)
c.5504A>T (p.His1835Leu)
c.5606A>T (p.His1869Leu)
c.5549A>T (p.His1850Leu)
c.5525A>T (p.His1842Leu)
c.5480A>T (p.His1827Leu)
3g.53801372T>ACA353251651CACNA1Dc.5415T>A (p.His1805Gln)
n.2354T>A
n.790T>A
c.5355T>A (p.His1785Gln)
c.5310T>A (p.His1770Gln)
c.1476T>A
n.711T>A
n.782T>A
c.5382T>A (p.His1794Gln)
n.109T>A
c.4434T>A (p.His1478Gln)
c.5610T>A (p.His1870Gln)
c.5499T>A (p.His1833Gln)
c.5421T>A (p.His1807Gln)
c.5073T>A (p.His1691Gln)
c.4698T>A (p.His1566Gln)
c.5505T>A (p.His1835Gln)
c.5607T>A (p.His1869Gln)
c.5550T>A (p.His1850Gln)
c.5526T>A (p.His1842Gln)
c.5481T>A (p.His1827Gln)
3g.53801372T>CCA433804112CACNA1Dc.5415T>C (p.His1805=)
n.2354T>C
n.790T>C
c.5355T>C (p.His1785=)
c.5310T>C (p.His1770=)
c.1476T>C
n.711T>C
n.782T>C
c.5382T>C (p.His1794=)
n.109T>C
c.4434T>C (p.His1478=)
c.5610T>C (p.His1870=)
c.5499T>C (p.His1833=)
c.5421T>C (p.His1807=)
c.5073T>C (p.His1691=)
c.4698T>C (p.His1566=)
c.5505T>C (p.His1835=)
c.5607T>C (p.His1869=)
c.5550T>C (p.His1850=)
c.5526T>C (p.His1842=)
c.5481T>C (p.His1827=)
3g.53801372T>GCA353251650CACNA1Dc.5415T>G (p.His1805Gln)
n.2354T>G
n.790T>G
c.5355T>G (p.His1785Gln)
c.5310T>G (p.His1770Gln)
c.1476T>G
n.711T>G
n.782T>G
c.5382T>G (p.His1794Gln)
n.109T>G
c.4434T>G (p.His1478Gln)
c.5610T>G (p.His1870Gln)
c.5499T>G (p.His1833Gln)
c.5421T>G (p.His1807Gln)
c.5073T>G (p.His1691Gln)
c.4698T>G (p.His1566Gln)
c.5505T>G (p.His1835Gln)
c.5607T>G (p.His1869Gln)
c.5550T>G (p.His1850Gln)
c.5526T>G (p.His1842Gln)
c.5481T>G (p.His1827Gln)
3g.53801373C>ACA353251654CACNA1Dc.5416C>A (p.His1806Asn)
n.2355C>A
n.791C>A
c.5356C>A (p.His1786Asn)
c.5311C>A (p.His1771Asn)
c.1477C>A
n.712C>A
n.783C>A
c.5383C>A (p.His1795Asn)
n.110C>A
c.4435C>A (p.His1479Asn)
c.5611C>A (p.His1871Asn)
c.5500C>A (p.His1834Asn)
c.5422C>A (p.His1808Asn)
c.5074C>A (p.His1692Asn)
c.4699C>A (p.His1567Asn)
c.5506C>A (p.His1836Asn)
c.5608C>A (p.His1870Asn)
c.5551C>A (p.His1851Asn)
c.5527C>A (p.His1843Asn)
c.5482C>A (p.His1828Asn)
3g.53801373C>GCA353251656CACNA1Dc.5416C>G (p.His1806Asp)
n.2355C>G
n.791C>G
c.5356C>G (p.His1786Asp)
c.5311C>G (p.His1771Asp)
c.1477C>G
n.712C>G
n.783C>G
c.5383C>G (p.His1795Asp)
n.110C>G
c.4435C>G (p.His1479Asp)
c.5611C>G (p.His1871Asp)
c.5500C>G (p.His1834Asp)
c.5422C>G (p.His1808Asp)
c.5074C>G (p.His1692Asp)
c.4699C>G (p.His1567Asp)
c.5506C>G (p.His1836Asp)
c.5608C>G (p.His1870Asp)
c.5551C>G (p.His1851Asp)
c.5527C>G (p.His1843Asp)
c.5482C>G (p.His1828Asp)
3g.53801373C>TCA353251657CACNA1Dc.5416C>T (p.His1806Tyr)
n.2355C>T
n.791C>T
c.5356C>T (p.His1786Tyr)
c.5311C>T (p.His1771Tyr)
c.1477C>T
n.712C>T
n.783C>T
c.5383C>T (p.His1795Tyr)
n.110C>T
c.4435C>T (p.His1479Tyr)
c.5611C>T (p.His1871Tyr)
c.5500C>T (p.His1834Tyr)
c.5422C>T (p.His1808Tyr)
c.5074C>T (p.His1692Tyr)
c.4699C>T (p.His1567Tyr)
c.5506C>T (p.His1836Tyr)
c.5608C>T (p.His1870Tyr)
c.5551C>T (p.His1851Tyr)
c.5527C>T (p.His1843Tyr)
c.5482C>T (p.His1828Tyr)
3g.53801374A=CA1365484224CACNA1Dc.5417A= (p.His1806=)
n.2356A=
n.792A=
c.5357A= (p.His1786=)
c.5312A= (p.His1771=)
c.1478A=
n.713A=
n.784A=
c.5384A= (p.His1795=)
n.111A=
c.4436A= (p.His1479=)
c.5612A= (p.His1871=)
c.5501A= (p.His1834=)
c.5423A= (p.His1808=)
c.5075A= (p.His1692=)
c.4700A= (p.His1567=)
c.5507A= (p.His1836=)
c.5609A= (p.His1870=)
c.5552A= (p.His1851=)
c.5528A= (p.His1843=)
c.5483A= (p.His1828=)
3g.53801374A>CCA353251660CACNA1Dc.5417A>C (p.His1806Pro)
n.2356A>C
n.792A>C
c.5357A>C (p.His1786Pro)
c.5312A>C (p.His1771Pro)
c.1478A>C
n.713A>C
n.784A>C
c.5384A>C (p.His1795Pro)
n.111A>C
c.4436A>C (p.His1479Pro)
c.5612A>C (p.His1871Pro)
c.5501A>C (p.His1834Pro)
c.5423A>C (p.His1808Pro)
c.5075A>C (p.His1692Pro)
c.4700A>C (p.His1567Pro)
c.5507A>C (p.His1836Pro)
c.5609A>C (p.His1870Pro)
c.5552A>C (p.His1851Pro)
c.5528A>C (p.His1843Pro)
c.5483A>C (p.His1828Pro)
 ClinVar dbSNP gnomAD v4
3g.53801374A>GCA353251662CACNA1Dc.5417A>G (p.His1806Arg)
n.2356A>G
n.792A>G
c.5357A>G (p.His1786Arg)
c.5312A>G (p.His1771Arg)
c.1478A>G
n.713A>G
n.784A>G
c.5384A>G (p.His1795Arg)
n.111A>G
c.4436A>G (p.His1479Arg)
c.5612A>G (p.His1871Arg)
c.5501A>G (p.His1834Arg)
c.5423A>G (p.His1808Arg)
c.5075A>G (p.His1692Arg)
c.4700A>G (p.His1567Arg)
c.5507A>G (p.His1836Arg)
c.5609A>G (p.His1870Arg)
c.5552A>G (p.His1851Arg)
c.5528A>G (p.His1843Arg)
c.5483A>G (p.His1828Arg)
 ClinVar dbSNP
3g.53801374A>TCA353251663CACNA1Dc.5417A>T (p.His1806Leu)
n.2356A>T
n.792A>T
c.5357A>T (p.His1786Leu)
c.5312A>T (p.His1771Leu)
c.1478A>T
n.713A>T
n.784A>T
c.5384A>T (p.His1795Leu)
n.111A>T
c.4436A>T (p.His1479Leu)
c.5612A>T (p.His1871Leu)
c.5501A>T (p.His1834Leu)
c.5423A>T (p.His1808Leu)
c.5075A>T (p.His1692Leu)
c.4700A>T (p.His1567Leu)
c.5507A>T (p.His1836Leu)
c.5609A>T (p.His1870Leu)
c.5552A>T (p.His1851Leu)
c.5528A>T (p.His1843Leu)
c.5483A>T (p.His1828Leu)
3g.53801375T>ACA353251667CACNA1Dc.5418T>A (p.His1806Gln)
n.2357T>A
n.793T>A
c.5358T>A (p.His1786Gln)
c.5313T>A (p.His1771Gln)
c.1479T>A
n.714T>A
n.785T>A
c.5385T>A (p.His1795Gln)
n.112T>A
c.4437T>A (p.His1479Gln)
c.5613T>A (p.His1871Gln)
c.5502T>A (p.His1834Gln)
c.5424T>A (p.His1808Gln)
c.5076T>A (p.His1692Gln)
c.4701T>A (p.His1567Gln)
c.5508T>A (p.His1836Gln)
c.5610T>A (p.His1870Gln)
c.5553T>A (p.His1851Gln)
c.5529T>A (p.His1843Gln)
c.5484T>A (p.His1828Gln)
3g.53801375T>CCA433804113CACNA1Dc.5418T>C (p.His1806=)
n.2357T>C
n.793T>C
c.5358T>C (p.His1786=)
c.5313T>C (p.His1771=)
c.1479T>C
n.714T>C
n.785T>C
c.5385T>C (p.His1795=)
n.112T>C
c.4437T>C (p.His1479=)
c.5613T>C (p.His1871=)
c.5502T>C (p.His1834=)
c.5424T>C (p.His1808=)
c.5076T>C (p.His1692=)
c.4701T>C (p.His1567=)
c.5508T>C (p.His1836=)
c.5610T>C (p.His1870=)
c.5553T>C (p.His1851=)
c.5529T>C (p.His1843=)
c.5484T>C (p.His1828=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.53801375T>GCA353251665CACNA1Dc.5418T>G (p.His1806Gln)
n.2357T>G
n.793T>G
c.5358T>G (p.His1786Gln)
c.5313T>G (p.His1771Gln)
c.1479T>G
n.714T>G
n.785T>G
c.5385T>G (p.His1795Gln)
n.112T>G
c.4437T>G (p.His1479Gln)
c.5613T>G (p.His1871Gln)
c.5502T>G (p.His1834Gln)
c.5424T>G (p.His1808Gln)
c.5076T>G (p.His1692Gln)
c.4701T>G (p.His1567Gln)
c.5508T>G (p.His1836Gln)
c.5610T>G (p.His1870Gln)
c.5553T>G (p.His1851Gln)
c.5529T>G (p.His1843Gln)
c.5484T>G (p.His1828Gln)
3g.53801375T=CA1365484225CACNA1Dc.5418T= (p.His1806=)
n.2357T=
n.793T=
c.5358T= (p.His1786=)
c.5313T= (p.His1771=)
c.1479T=
n.714T=
n.785T=
c.5385T= (p.His1795=)
n.112T=
c.4437T= (p.His1479=)
c.5613T= (p.His1871=)
c.5502T= (p.His1834=)
c.5424T= (p.His1808=)
c.5076T= (p.His1692=)
c.4701T= (p.His1567=)
c.5508T= (p.His1836=)
c.5610T= (p.His1870=)
c.5553T= (p.His1851=)
c.5529T= (p.His1843=)
c.5484T= (p.His1828=)
3g.53801376T>ACA353251669CACNA1Dc.5419T>A (p.Ser1807Thr)
n.2358T>A
n.794T>A
c.5359T>A (p.Ser1787Thr)
c.5314T>A (p.Ser1772Thr)
c.1480T>A
n.715T>A
n.786T>A
c.5386T>A (p.Ser1796Thr)
n.113T>A
c.4438T>A (p.Ser1480Thr)
c.5614T>A (p.Ser1872Thr)
c.5503T>A (p.Ser1835Thr)
c.5425T>A (p.Ser1809Thr)
c.5077T>A (p.Ser1693Thr)
c.4702T>A (p.Ser1568Thr)
c.5509T>A (p.Ser1837Thr)
c.5611T>A (p.Ser1871Thr)
c.5554T>A (p.Ser1852Thr)
c.5530T>A (p.Ser1844Thr)
c.5485T>A (p.Ser1829Thr)
3g.53801376T>CCA353251671CACNA1Dc.5419T>C (p.Ser1807Pro)
n.2358T>C
n.794T>C
c.5359T>C (p.Ser1787Pro)
c.5314T>C (p.Ser1772Pro)
c.1480T>C
n.715T>C
n.786T>C
c.5386T>C (p.Ser1796Pro)
n.113T>C
c.4438T>C (p.Ser1480Pro)
c.5614T>C (p.Ser1872Pro)
c.5503T>C (p.Ser1835Pro)
c.5425T>C (p.Ser1809Pro)
c.5077T>C (p.Ser1693Pro)
c.4702T>C (p.Ser1568Pro)
c.5509T>C (p.Ser1837Pro)
c.5611T>C (p.Ser1871Pro)
c.5554T>C (p.Ser1852Pro)
c.5530T>C (p.Ser1844Pro)
c.5485T>C (p.Ser1829Pro)
3g.53801376T>GCA353251673CACNA1Dc.5419T>G (p.Ser1807Ala)
n.2358T>G
n.794T>G
c.5359T>G (p.Ser1787Ala)
c.5314T>G (p.Ser1772Ala)
c.1480T>G
n.715T>G
n.786T>G
c.5386T>G (p.Ser1796Ala)
n.113T>G
c.4438T>G (p.Ser1480Ala)
c.5614T>G (p.Ser1872Ala)
c.5503T>G (p.Ser1835Ala)
c.5425T>G (p.Ser1809Ala)
c.5077T>G (p.Ser1693Ala)
c.4702T>G (p.Ser1568Ala)
c.5509T>G (p.Ser1837Ala)
c.5611T>G (p.Ser1871Ala)
c.5554T>G (p.Ser1852Ala)
c.5530T>G (p.Ser1844Ala)
c.5485T>G (p.Ser1829Ala)
3g.53801377C>ACA353251675CACNA1Dc.5420C>A (p.Ser1807Tyr)
n.2359C>A
n.795C>A
c.5360C>A (p.Ser1787Tyr)
c.5315C>A (p.Ser1772Tyr)
c.1481C>A
n.716C>A
n.787C>A
c.5387C>A (p.Ser1796Tyr)
n.114C>A
c.4439C>A (p.Ser1480Tyr)
c.5615C>A (p.Ser1872Tyr)
c.5504C>A (p.Ser1835Tyr)
c.5426C>A (p.Ser1809Tyr)
c.5078C>A (p.Ser1693Tyr)
c.4703C>A (p.Ser1568Tyr)
c.5510C>A (p.Ser1837Tyr)
c.5612C>A (p.Ser1871Tyr)
c.5555C>A (p.Ser1852Tyr)
c.5531C>A (p.Ser1844Tyr)
c.5486C>A (p.Ser1829Tyr)
3g.53801377C>GCA353251676CACNA1Dc.5420C>G (p.Ser1807Cys)
n.2359C>G
n.795C>G
c.5360C>G (p.Ser1787Cys)
c.5315C>G (p.Ser1772Cys)
c.1481C>G
n.716C>G
n.787C>G
c.5387C>G (p.Ser1796Cys)
n.114C>G
c.4439C>G (p.Ser1480Cys)
c.5615C>G (p.Ser1872Cys)
c.5504C>G (p.Ser1835Cys)
c.5426C>G (p.Ser1809Cys)
c.5078C>G (p.Ser1693Cys)
c.4703C>G (p.Ser1568Cys)
c.5510C>G (p.Ser1837Cys)
c.5612C>G (p.Ser1871Cys)
c.5555C>G (p.Ser1852Cys)
c.5531C>G (p.Ser1844Cys)
c.5486C>G (p.Ser1829Cys)
3g.53801377C>TCA353251677CACNA1Dc.5420C>T (p.Ser1807Phe)
n.2359C>T
n.795C>T
c.5360C>T (p.Ser1787Phe)
c.5315C>T (p.Ser1772Phe)
c.1481C>T
n.716C>T
n.787C>T
c.5387C>T (p.Ser1796Phe)
n.114C>T
c.4439C>T (p.Ser1480Phe)
c.5615C>T (p.Ser1872Phe)
c.5504C>T (p.Ser1835Phe)
c.5426C>T (p.Ser1809Phe)
c.5078C>T (p.Ser1693Phe)
c.4703C>T (p.Ser1568Phe)
c.5510C>T (p.Ser1837Phe)
c.5612C>T (p.Ser1871Phe)
c.5555C>T (p.Ser1852Phe)
c.5531C>T (p.Ser1844Phe)
c.5486C>T (p.Ser1829Phe)
3g.53801378T>ACA433804114CACNA1Dc.5421T>A (p.Ser1807=)
n.2360T>A
n.796T>A
c.5361T>A (p.Ser1787=)
c.5316T>A (p.Ser1772=)
c.1482T>A
n.717T>A
n.788T>A
c.5388T>A (p.Ser1796=)
n.115T>A
c.4440T>A (p.Ser1480=)
c.5616T>A (p.Ser1872=)
c.5505T>A (p.Ser1835=)
c.5427T>A (p.Ser1809=)
c.5079T>A (p.Ser1693=)
c.4704T>A (p.Ser1568=)
c.5511T>A (p.Ser1837=)
c.5613T>A (p.Ser1871=)
c.5556T>A (p.Ser1852=)
c.5532T>A (p.Ser1844=)
c.5487T>A (p.Ser1829=)
3g.53801378T>CCA433804115CACNA1Dc.5421T>C (p.Ser1807=)
n.2360T>C
n.796T>C
c.5361T>C (p.Ser1787=)
c.5316T>C (p.Ser1772=)
c.1482T>C
n.717T>C
n.788T>C
c.5388T>C (p.Ser1796=)
n.115T>C
c.4440T>C (p.Ser1480=)
c.5616T>C (p.Ser1872=)
c.5505T>C (p.Ser1835=)
c.5427T>C (p.Ser1809=)
c.5079T>C (p.Ser1693=)
c.4704T>C (p.Ser1568=)
c.5511T>C (p.Ser1837=)
c.5613T>C (p.Ser1871=)
c.5556T>C (p.Ser1852=)
c.5532T>C (p.Ser1844=)
c.5487T>C (p.Ser1829=)
 dbSNP gnomAD v4
3g.53801378T>GCA433804116CACNA1Dc.5421T>G (p.Ser1807=)
n.2360T>G
n.796T>G
c.5361T>G (p.Ser1787=)
c.5316T>G (p.Ser1772=)
c.1482T>G
n.717T>G
n.788T>G
c.5388T>G (p.Ser1796=)
n.115T>G
c.4440T>G (p.Ser1480=)
c.5616T>G (p.Ser1872=)
c.5505T>G (p.Ser1835=)
c.5427T>G (p.Ser1809=)
c.5079T>G (p.Ser1693=)
c.4704T>G (p.Ser1568=)
c.5511T>G (p.Ser1837=)
c.5613T>G (p.Ser1871=)
c.5556T>G (p.Ser1852=)
c.5532T>G (p.Ser1844=)
c.5487T>G (p.Ser1829=)
3g.53801378T=CA1365484226CACNA1Dc.5421T= (p.Ser1807=)
n.2360T=
n.796T=
c.5361T= (p.Ser1787=)
c.5316T= (p.Ser1772=)
c.1482T=
n.717T=
n.788T=
c.5388T= (p.Ser1796=)
n.115T=
c.4440T= (p.Ser1480=)
c.5616T= (p.Ser1872=)
c.5505T= (p.Ser1835=)
c.5427T= (p.Ser1809=)
c.5079T= (p.Ser1693=)
c.4704T= (p.Ser1568=)
c.5511T= (p.Ser1837=)
c.5613T= (p.Ser1871=)
c.5556T= (p.Ser1852=)
c.5532T= (p.Ser1844=)
c.5487T= (p.Ser1829=)
3g.53801379T>ACA353251678CACNA1Dc.5422T>A (p.Ser1808Thr)
n.2361T>A
n.797T>A
c.5362T>A (p.Ser1788Thr)
c.5317T>A (p.Ser1773Thr)
c.1483T>A
n.718T>A
n.789T>A
c.5389T>A (p.Ser1797Thr)
n.116T>A
c.4441T>A (p.Ser1481Thr)
c.5617T>A (p.Ser1873Thr)
c.5506T>A (p.Ser1836Thr)
c.5428T>A (p.Ser1810Thr)
c.5080T>A (p.Ser1694Thr)
c.4705T>A (p.Ser1569Thr)
c.5512T>A (p.Ser1838Thr)
c.5614T>A (p.Ser1872Thr)
c.5557T>A (p.Ser1853Thr)
c.5533T>A (p.Ser1845Thr)
c.5488T>A (p.Ser1830Thr)
3g.53801379T>CCA353251681CACNA1Dc.5422T>C (p.Ser1808Pro)
n.2361T>C
n.797T>C
c.5362T>C (p.Ser1788Pro)
c.5317T>C (p.Ser1773Pro)
c.1483T>C
n.718T>C
n.789T>C
c.5389T>C (p.Ser1797Pro)
n.116T>C
c.4441T>C (p.Ser1481Pro)
c.5617T>C (p.Ser1873Pro)
c.5506T>C (p.Ser1836Pro)
c.5428T>C (p.Ser1810Pro)
c.5080T>C (p.Ser1694Pro)
c.4705T>C (p.Ser1569Pro)
c.5512T>C (p.Ser1838Pro)
c.5614T>C (p.Ser1872Pro)
c.5557T>C (p.Ser1853Pro)
c.5533T>C (p.Ser1845Pro)
c.5488T>C (p.Ser1830Pro)
3g.53801379T>GCA353251680CACNA1Dc.5422T>G (p.Ser1808Ala)
n.2361T>G
n.797T>G
c.5362T>G (p.Ser1788Ala)
c.5317T>G (p.Ser1773Ala)
c.1483T>G
n.718T>G
n.789T>G
c.5389T>G (p.Ser1797Ala)
n.116T>G
c.4441T>G (p.Ser1481Ala)
c.5617T>G (p.Ser1873Ala)
c.5506T>G (p.Ser1836Ala)
c.5428T>G (p.Ser1810Ala)
c.5080T>G (p.Ser1694Ala)
c.4705T>G (p.Ser1569Ala)
c.5512T>G (p.Ser1838Ala)
c.5614T>G (p.Ser1872Ala)
c.5557T>G (p.Ser1853Ala)
c.5533T>G (p.Ser1845Ala)
c.5488T>G (p.Ser1830Ala)
3g.53801380C>ACA353251684CACNA1Dc.5423C>A (p.Ser1808Tyr)
n.2362C>A
n.798C>A
c.5363C>A (p.Ser1788Tyr)
c.5318C>A (p.Ser1773Tyr)
c.1484C>A
n.719C>A
n.790C>A
c.5390C>A (p.Ser1797Tyr)
n.117C>A
c.4442C>A (p.Ser1481Tyr)
c.5618C>A (p.Ser1873Tyr)
c.5507C>A (p.Ser1836Tyr)
c.5429C>A (p.Ser1810Tyr)
c.5081C>A (p.Ser1694Tyr)
c.4706C>A (p.Ser1569Tyr)
c.5513C>A (p.Ser1838Tyr)
c.5615C>A (p.Ser1872Tyr)
c.5558C>A (p.Ser1853Tyr)
c.5534C>A (p.Ser1845Tyr)
c.5489C>A (p.Ser1830Tyr)
3g.53801380C>GCA353251686CACNA1Dc.5423C>G (p.Ser1808Cys)
n.2362C>G
n.798C>G
c.5363C>G (p.Ser1788Cys)
c.5318C>G (p.Ser1773Cys)
c.1484C>G
n.719C>G
n.790C>G
c.5390C>G (p.Ser1797Cys)
n.117C>G
c.4442C>G (p.Ser1481Cys)
c.5618C>G (p.Ser1873Cys)
c.5507C>G (p.Ser1836Cys)
c.5429C>G (p.Ser1810Cys)
c.5081C>G (p.Ser1694Cys)
c.4706C>G (p.Ser1569Cys)
c.5513C>G (p.Ser1838Cys)
c.5615C>G (p.Ser1872Cys)
c.5558C>G (p.Ser1853Cys)
c.5534C>G (p.Ser1845Cys)
c.5489C>G (p.Ser1830Cys)
3g.53801380C>TCA353251687CACNA1Dc.5423C>T (p.Ser1808Phe)
n.2362C>T
n.798C>T
c.5363C>T (p.Ser1788Phe)
c.5318C>T (p.Ser1773Phe)
c.1484C>T
n.719C>T
n.790C>T
c.5390C>T (p.Ser1797Phe)
n.117C>T
c.4442C>T (p.Ser1481Phe)
c.5618C>T (p.Ser1873Phe)
c.5507C>T (p.Ser1836Phe)
c.5429C>T (p.Ser1810Phe)
c.5081C>T (p.Ser1694Phe)
c.4706C>T (p.Ser1569Phe)
c.5513C>T (p.Ser1838Phe)
c.5615C>T (p.Ser1872Phe)
c.5558C>T (p.Ser1853Phe)
c.5534C>T (p.Ser1845Phe)
c.5489C>T (p.Ser1830Phe)
 COSMIC COSMIC
3g.53801381C>ACA433804119CACNA1Dc.5424C>A (p.Ser1808=)
n.2363C>A
n.799C>A
c.5364C>A (p.Ser1788=)
c.5319C>A (p.Ser1773=)
c.1485C>A
n.720C>A
n.791C>A
c.5391C>A (p.Ser1797=)
n.118C>A
c.4443C>A (p.Ser1481=)
c.5619C>A (p.Ser1873=)
c.5508C>A (p.Ser1836=)
c.5430C>A (p.Ser1810=)
c.5082C>A (p.Ser1694=)
c.4707C>A (p.Ser1569=)
c.5514C>A (p.Ser1838=)
c.5616C>A (p.Ser1872=)
c.5559C>A (p.Ser1853=)
c.5535C>A (p.Ser1845=)
c.5490C>A (p.Ser1830=)
3g.53801381C>GCA433804118CACNA1Dc.5424C>G (p.Ser1808=)
n.2363C>G
n.799C>G
c.5364C>G (p.Ser1788=)
c.5319C>G (p.Ser1773=)
c.1485C>G
n.720C>G
n.791C>G
c.5391C>G (p.Ser1797=)
n.118C>G
c.4443C>G (p.Ser1481=)
c.5619C>G (p.Ser1873=)
c.5508C>G (p.Ser1836=)
c.5430C>G (p.Ser1810=)
c.5082C>G (p.Ser1694=)
c.4707C>G (p.Ser1569=)
c.5514C>G (p.Ser1838=)
c.5616C>G (p.Ser1872=)
c.5559C>G (p.Ser1853=)
c.5535C>G (p.Ser1845=)
c.5490C>G (p.Ser1830=)
3g.53801381C>TCA433804117CACNA1Dc.5424C>T (p.Ser1808=)
n.2363C>T
n.799C>T
c.5364C>T (p.Ser1788=)
c.5319C>T (p.Ser1773=)
c.1485C>T
n.720C>T
n.791C>T
c.5391C>T (p.Ser1797=)
n.118C>T
c.4443C>T (p.Ser1481=)
c.5619C>T (p.Ser1873=)
c.5508C>T (p.Ser1836=)
c.5430C>T (p.Ser1810=)
c.5082C>T (p.Ser1694=)
c.4707C>T (p.Ser1569=)
c.5514C>T (p.Ser1838=)
c.5616C>T (p.Ser1872=)
c.5559C>T (p.Ser1853=)
c.5535C>T (p.Ser1845=)
c.5490C>T (p.Ser1830=)
 gnomAD v4
3g.53801382C>ACA353251689CACNA1Dc.5425C>A (p.His1809Asn)
n.2364C>A
n.800C>A
c.5365C>A (p.His1789Asn)
c.5320C>A (p.His1774Asn)
c.1486C>A
n.721C>A
n.792C>A
c.5392C>A (p.His1798Asn)
n.119C>A
c.4444C>A (p.His1482Asn)
c.5620C>A (p.His1874Asn)
c.5509C>A (p.His1837Asn)
c.5431C>A (p.His1811Asn)
c.5083C>A (p.His1695Asn)
c.4708C>A (p.His1570Asn)
c.5515C>A (p.His1839Asn)
c.5617C>A (p.His1873Asn)
c.5560C>A (p.His1854Asn)
c.5536C>A (p.His1846Asn)
c.5491C>A (p.His1831Asn)
3g.53801382C>GCA353251691CACNA1Dc.5425C>G (p.His1809Asp)
n.2364C>G
n.800C>G
c.5365C>G (p.His1789Asp)
c.5320C>G (p.His1774Asp)
c.1486C>G
n.721C>G
n.792C>G
c.5392C>G (p.His1798Asp)
n.119C>G
c.4444C>G (p.His1482Asp)
c.5620C>G (p.His1874Asp)
c.5509C>G (p.His1837Asp)
c.5431C>G (p.His1811Asp)
c.5083C>G (p.His1695Asp)
c.4708C>G (p.His1570Asp)
c.5515C>G (p.His1839Asp)
c.5617C>G (p.His1873Asp)
c.5560C>G (p.His1854Asp)
c.5536C>G (p.His1846Asp)
c.5491C>G (p.His1831Asp)
3g.53801382C>TCA353251692CACNA1Dc.5425C>T (p.His1809Tyr)
n.2364C>T
n.800C>T
c.5365C>T (p.His1789Tyr)
c.5320C>T (p.His1774Tyr)
c.1486C>T
n.721C>T
n.792C>T
c.5392C>T (p.His1798Tyr)
n.119C>T
c.4444C>T (p.His1482Tyr)
c.5620C>T (p.His1874Tyr)
c.5509C>T (p.His1837Tyr)
c.5431C>T (p.His1811Tyr)
c.5083C>T (p.His1695Tyr)
c.4708C>T (p.His1570Tyr)
c.5515C>T (p.His1839Tyr)
c.5617C>T (p.His1873Tyr)
c.5560C>T (p.His1854Tyr)
c.5536C>T (p.His1846Tyr)
c.5491C>T (p.His1831Tyr)
3g.53801383A>CCA353251694CACNA1Dc.5426A>C (p.His1809Pro)
n.2365A>C
n.801A>C
c.5366A>C (p.His1789Pro)
c.5321A>C (p.His1774Pro)
c.1487A>C
n.722A>C
n.793A>C
c.5393A>C (p.His1798Pro)
n.120A>C
c.4445A>C (p.His1482Pro)
c.5621A>C (p.His1874Pro)
c.5510A>C (p.His1837Pro)
c.5432A>C (p.His1811Pro)
c.5084A>C (p.His1695Pro)
c.4709A>C (p.His1570Pro)
c.5516A>C (p.His1839Pro)
c.5618A>C (p.His1873Pro)
c.5561A>C (p.His1854Pro)
c.5537A>C (p.His1846Pro)
c.5492A>C (p.His1831Pro)
3g.53801383A>GCA353251696CACNA1Dc.5426A>G (p.His1809Arg)
n.2365A>G
n.801A>G
c.5366A>G (p.His1789Arg)
c.5321A>G (p.His1774Arg)
c.1487A>G
n.722A>G
n.793A>G
c.5393A>G (p.His1798Arg)
n.120A>G
c.4445A>G (p.His1482Arg)
c.5621A>G (p.His1874Arg)
c.5510A>G (p.His1837Arg)
c.5432A>G (p.His1811Arg)
c.5084A>G (p.His1695Arg)
c.4709A>G (p.His1570Arg)
c.5516A>G (p.His1839Arg)
c.5618A>G (p.His1873Arg)
c.5561A>G (p.His1854Arg)
c.5537A>G (p.His1846Arg)
c.5492A>G (p.His1831Arg)
3g.53801383A>TCA353251698CACNA1Dc.5426A>T (p.His1809Leu)
n.2365A>T
n.801A>T
c.5366A>T (p.His1789Leu)
c.5321A>T (p.His1774Leu)
c.1487A>T
n.722A>T
n.793A>T
c.5393A>T (p.His1798Leu)
n.120A>T
c.4445A>T (p.His1482Leu)
c.5621A>T (p.His1874Leu)
c.5510A>T (p.His1837Leu)
c.5432A>T (p.His1811Leu)
c.5084A>T (p.His1695Leu)
c.4709A>T (p.His1570Leu)
c.5516A>T (p.His1839Leu)
c.5618A>T (p.His1873Leu)
c.5561A>T (p.His1854Leu)
c.5537A>T (p.His1846Leu)
c.5492A>T (p.His1831Leu)
3g.53801384C>ACA353251700CACNA1Dc.5427C>A (p.His1809Gln)
n.2366C>A
n.802C>A
c.5367C>A (p.His1789Gln)
c.5322C>A (p.His1774Gln)
c.1488C>A
n.723C>A
n.794C>A
c.5394C>A (p.His1798Gln)
n.121C>A
c.4446C>A (p.His1482Gln)
c.5622C>A (p.His1874Gln)
c.5511C>A (p.His1837Gln)
c.5433C>A (p.His1811Gln)
c.5085C>A (p.His1695Gln)
c.4710C>A (p.His1570Gln)
c.5517C>A (p.His1839Gln)
c.5619C>A (p.His1873Gln)
c.5562C>A (p.His1854Gln)
c.5538C>A (p.His1846Gln)
c.5493C>A (p.His1831Gln)
 gnomAD v4
3g.53801384C>GCA353251702CACNA1Dc.5427C>G (p.His1809Gln)
n.2366C>G
n.802C>G
c.5367C>G (p.His1789Gln)
c.5322C>G (p.His1774Gln)
c.1488C>G
n.723C>G
n.794C>G
c.5394C>G (p.His1798Gln)
n.121C>G
c.4446C>G (p.His1482Gln)
c.5622C>G (p.His1874Gln)
c.5511C>G (p.His1837Gln)
c.5433C>G (p.His1811Gln)
c.5085C>G (p.His1695Gln)
c.4710C>G (p.His1570Gln)
c.5517C>G (p.His1839Gln)
c.5619C>G (p.His1873Gln)
c.5562C>G (p.His1854Gln)
c.5538C>G (p.His1846Gln)
c.5493C>G (p.His1831Gln)
 ClinVar
3g.53801384C>TCA433804121CACNA1Dc.5427C>T (p.His1809=)
n.2366C>T
n.802C>T
c.5367C>T (p.His1789=)
c.5322C>T (p.His1774=)
c.1488C>T
n.723C>T
n.794C>T
c.5394C>T (p.His1798=)
n.121C>T
c.4446C>T (p.His1482=)
c.5622C>T (p.His1874=)
c.5511C>T (p.His1837=)
c.5433C>T (p.His1811=)
c.5085C>T (p.His1695=)
c.4710C>T (p.His1570=)
c.5517C>T (p.His1839=)
c.5619C>T (p.His1873=)
c.5562C>T (p.His1854=)
c.5538C>T (p.His1846=)
c.5493C>T (p.His1831=)
3g.53801385A>CCA353251705CACNA1Dc.5428A>C (p.Lys1810Gln)
n.2367A>C
n.803A>C
c.5368A>C (p.Lys1790Gln)
c.5323A>C (p.Lys1775Gln)
c.1489A>C
n.724A>C
n.795A>C
c.5395A>C (p.Lys1799Gln)
n.122A>C
c.4447A>C (p.Lys1483Gln)
c.5623A>C (p.Lys1875Gln)
c.5512A>C (p.Lys1838Gln)
c.5434A>C (p.Lys1812Gln)
c.5086A>C (p.Lys1696Gln)
c.4711A>C (p.Lys1571Gln)
c.5518A>C (p.Lys1840Gln)
c.5620A>C (p.Lys1874Gln)
c.5563A>C (p.Lys1855Gln)
c.5539A>C (p.Lys1847Gln)
c.5494A>C (p.Lys1832Gln)
3g.53801385A>GCA353251708CACNA1Dc.5428A>G (p.Lys1810Glu)
n.2367A>G
n.803A>G
c.5368A>G (p.Lys1790Glu)
c.5323A>G (p.Lys1775Glu)
c.1489A>G
n.724A>G
n.795A>G
c.5395A>G (p.Lys1799Glu)
n.122A>G
c.4447A>G (p.Lys1483Glu)
c.5623A>G (p.Lys1875Glu)
c.5512A>G (p.Lys1838Glu)
c.5434A>G (p.Lys1812Glu)
c.5086A>G (p.Lys1696Glu)
c.4711A>G (p.Lys1571Glu)
c.5518A>G (p.Lys1840Glu)
c.5620A>G (p.Lys1874Glu)
c.5563A>G (p.Lys1855Glu)
c.5539A>G (p.Lys1847Glu)
c.5494A>G (p.Lys1832Glu)
3g.53801385A>TCA353251707CACNA1Dc.5428A>T (p.Lys1810Ter)
n.2367A>T
n.803A>T
c.5368A>T (p.Lys1790Ter)
c.5323A>T (p.Lys1775Ter)
c.1489A>T
n.724A>T
n.795A>T
c.5395A>T (p.Lys1799Ter)
n.122A>T
c.4447A>T (p.Lys1483Ter)
c.5623A>T (p.Lys1875Ter)
c.5512A>T (p.Lys1838Ter)
c.5434A>T (p.Lys1812Ter)
c.5086A>T (p.Lys1696Ter)
c.4711A>T (p.Lys1571Ter)
c.5518A>T (p.Lys1840Ter)
c.5620A>T (p.Lys1874Ter)
c.5563A>T (p.Lys1855Ter)
c.5539A>T (p.Lys1847Ter)
c.5494A>T (p.Lys1832Ter)
3g.53801386A>CCA353251710CACNA1Dc.5429A>C (p.Lys1810Thr)
n.2368A>C
n.804A>C
c.5369A>C (p.Lys1790Thr)
c.5324A>C (p.Lys1775Thr)
c.1490A>C
n.725A>C
n.796A>C
c.5396A>C (p.Lys1799Thr)
n.123A>C
c.4448A>C (p.Lys1483Thr)
c.5624A>C (p.Lys1875Thr)
c.5513A>C (p.Lys1838Thr)
c.5435A>C (p.Lys1812Thr)
c.5087A>C (p.Lys1696Thr)
c.4712A>C (p.Lys1571Thr)
c.5519A>C (p.Lys1840Thr)
c.5621A>C (p.Lys1874Thr)
c.5564A>C (p.Lys1855Thr)
c.5540A>C (p.Lys1847Thr)
c.5495A>C (p.Lys1832Thr)
3g.53801386A>GCA353251713CACNA1Dc.5429A>G (p.Lys1810Arg)
n.2368A>G
n.804A>G
c.5369A>G (p.Lys1790Arg)
c.5324A>G (p.Lys1775Arg)
c.1490A>G
n.725A>G
n.796A>G
c.5396A>G (p.Lys1799Arg)
n.123A>G
c.4448A>G (p.Lys1483Arg)
c.5624A>G (p.Lys1875Arg)
c.5513A>G (p.Lys1838Arg)
c.5435A>G (p.Lys1812Arg)
c.5087A>G (p.Lys1696Arg)
c.4712A>G (p.Lys1571Arg)
c.5519A>G (p.Lys1840Arg)
c.5621A>G (p.Lys1874Arg)
c.5564A>G (p.Lys1855Arg)
c.5540A>G (p.Lys1847Arg)
c.5495A>G (p.Lys1832Arg)
3g.53801386A>TCA353251711CACNA1Dc.5429A>T (p.Lys1810Met)
n.2368A>T
n.804A>T
c.5369A>T (p.Lys1790Met)
c.5324A>T (p.Lys1775Met)
c.1490A>T
n.725A>T
n.796A>T
c.5396A>T (p.Lys1799Met)
n.123A>T
c.4448A>T (p.Lys1483Met)
c.5624A>T (p.Lys1875Met)
c.5513A>T (p.Lys1838Met)
c.5435A>T (p.Lys1812Met)
c.5087A>T (p.Lys1696Met)
c.4712A>T (p.Lys1571Met)
c.5519A>T (p.Lys1840Met)
c.5621A>T (p.Lys1874Met)
c.5564A>T (p.Lys1855Met)
c.5540A>T (p.Lys1847Met)
c.5495A>T (p.Lys1832Met)
3g.53801387G>ACA433804122CACNA1Dc.5430G>A (p.Lys1810=)
n.2369G>A
n.805G>A
c.5370G>A (p.Lys1790=)
c.5325G>A (p.Lys1775=)
c.1491G>A
n.726G>A
n.797G>A
c.5397G>A (p.Lys1799=)
n.124G>A
c.4449G>A (p.Lys1483=)
c.5625G>A (p.Lys1875=)
c.5514G>A (p.Lys1838=)
c.5436G>A (p.Lys1812=)
c.5088G>A (p.Lys1696=)
c.4713G>A (p.Lys1571=)
c.5520G>A (p.Lys1840=)
c.5622G>A (p.Lys1874=)
c.5565G>A (p.Lys1855=)
c.5541G>A (p.Lys1847=)
c.5496G>A (p.Lys1832=)
3g.53801387G>CCA353251715CACNA1Dc.5430G>C (p.Lys1810Asn)
n.2369G>C
n.805G>C
c.5370G>C (p.Lys1790Asn)
c.5325G>C (p.Lys1775Asn)
c.1491G>C
n.726G>C
n.797G>C
c.5397G>C (p.Lys1799Asn)
n.124G>C
c.4449G>C (p.Lys1483Asn)
c.5625G>C (p.Lys1875Asn)
c.5514G>C (p.Lys1838Asn)
c.5436G>C (p.Lys1812Asn)
c.5088G>C (p.Lys1696Asn)
c.4713G>C (p.Lys1571Asn)
c.5520G>C (p.Lys1840Asn)
c.5622G>C (p.Lys1874Asn)
c.5565G>C (p.Lys1855Asn)
c.5541G>C (p.Lys1847Asn)
c.5496G>C (p.Lys1832Asn)
3g.53801387G>TCA353251717CACNA1Dc.5430G>T (p.Lys1810Asn)
n.2369G>T
n.805G>T
c.5370G>T (p.Lys1790Asn)
c.5325G>T (p.Lys1775Asn)
c.1491G>T
n.726G>T
n.797G>T
c.5397G>T (p.Lys1799Asn)
n.124G>T
c.4449G>T (p.Lys1483Asn)
c.5625G>T (p.Lys1875Asn)
c.5514G>T (p.Lys1838Asn)
c.5436G>T (p.Lys1812Asn)
c.5088G>T (p.Lys1696Asn)
c.4713G>T (p.Lys1571Asn)
c.5520G>T (p.Lys1840Asn)
c.5622G>T (p.Lys1874Asn)
c.5565G>T (p.Lys1855Asn)
c.5541G>T (p.Lys1847Asn)
c.5496G>T (p.Lys1832Asn)
3g.53801388C>ACA353251720CACNA1Dc.5431C>A (p.His1811Asn)
n.2370C>A
n.806C>A
c.5371C>A (p.His1791Asn)
c.5326C>A (p.His1776Asn)
c.1492C>A
n.727C>A
n.798C>A
c.5398C>A (p.His1800Asn)
n.125C>A
c.4450C>A (p.His1484Asn)
c.5626C>A (p.His1876Asn)
c.5515C>A (p.His1839Asn)
c.5437C>A (p.His1813Asn)
c.5089C>A (p.His1697Asn)
c.4714C>A (p.His1572Asn)
c.5521C>A (p.His1841Asn)
c.5623C>A (p.His1875Asn)
c.5566C>A (p.His1856Asn)
c.5542C>A (p.His1848Asn)
c.5497C>A (p.His1833Asn)
3g.53801388C>GCA353251722CACNA1Dc.5431C>G (p.His1811Asp)
n.2370C>G
n.806C>G
c.5371C>G (p.His1791Asp)
c.5326C>G (p.His1776Asp)
c.1492C>G
n.727C>G
n.798C>G
c.5398C>G (p.His1800Asp)
n.125C>G
c.4450C>G (p.His1484Asp)
c.5626C>G (p.His1876Asp)
c.5515C>G (p.His1839Asp)
c.5437C>G (p.His1813Asp)
c.5089C>G (p.His1697Asp)
c.4714C>G (p.His1572Asp)
c.5521C>G (p.His1841Asp)
c.5623C>G (p.His1875Asp)
c.5566C>G (p.His1856Asp)
c.5542C>G (p.His1848Asp)
c.5497C>G (p.His1833Asp)
3g.53801388C>TCA353251723CACNA1Dc.5431C>T (p.His1811Tyr)
n.2370C>T
n.806C>T
c.5371C>T (p.His1791Tyr)
c.5326C>T (p.His1776Tyr)
c.1492C>T
n.727C>T
n.798C>T
c.5398C>T (p.His1800Tyr)
n.125C>T
c.4450C>T (p.His1484Tyr)
c.5626C>T (p.His1876Tyr)
c.5515C>T (p.His1839Tyr)
c.5437C>T (p.His1813Tyr)
c.5089C>T (p.His1697Tyr)
c.4714C>T (p.His1572Tyr)
c.5521C>T (p.His1841Tyr)
c.5623C>T (p.His1875Tyr)
c.5566C>T (p.His1856Tyr)
c.5542C>T (p.His1848Tyr)
c.5497C>T (p.His1833Tyr)
 gnomAD v4 COSMIC COSMIC
3g.53801389A>CCA353251725CACNA1Dc.5432A>C (p.His1811Pro)
n.2371A>C
n.807A>C
c.5372A>C (p.His1791Pro)
c.5327A>C (p.His1776Pro)
c.1493A>C
n.728A>C
n.799A>C
c.5399A>C (p.His1800Pro)
n.126A>C
c.4451A>C (p.His1484Pro)
c.5627A>C (p.His1876Pro)
c.5516A>C (p.His1839Pro)
c.5438A>C (p.His1813Pro)
c.5090A>C (p.His1697Pro)
c.4715A>C (p.His1572Pro)
c.5522A>C (p.His1841Pro)
c.5624A>C (p.His1875Pro)
c.5567A>C (p.His1856Pro)
c.5543A>C (p.His1848Pro)
c.5498A>C (p.His1833Pro)
3g.53801389A>GCA353251726CACNA1Dc.5432A>G (p.His1811Arg)
n.2371A>G
n.807A>G
c.5372A>G (p.His1791Arg)
c.5327A>G (p.His1776Arg)
c.1493A>G
n.728A>G
n.799A>G
c.5399A>G (p.His1800Arg)
n.126A>G
c.4451A>G (p.His1484Arg)
c.5627A>G (p.His1876Arg)
c.5516A>G (p.His1839Arg)
c.5438A>G (p.His1813Arg)
c.5090A>G (p.His1697Arg)
c.4715A>G (p.His1572Arg)
c.5522A>G (p.His1841Arg)
c.5624A>G (p.His1875Arg)
c.5567A>G (p.His1856Arg)
c.5543A>G (p.His1848Arg)
c.5498A>G (p.His1833Arg)
3g.53801389A>TCA353251728CACNA1Dc.5432A>T (p.His1811Leu)
n.2371A>T
n.807A>T
c.5372A>T (p.His1791Leu)
c.5327A>T (p.His1776Leu)
c.1493A>T
n.728A>T
n.799A>T
c.5399A>T (p.His1800Leu)
n.126A>T
c.4451A>T (p.His1484Leu)
c.5627A>T (p.His1876Leu)
c.5516A>T (p.His1839Leu)
c.5438A>T (p.His1813Leu)
c.5090A>T (p.His1697Leu)
c.4715A>T (p.His1572Leu)
c.5522A>T (p.His1841Leu)
c.5624A>T (p.His1875Leu)
c.5567A>T (p.His1856Leu)
c.5543A>T (p.His1848Leu)
c.5498A>T (p.His1833Leu)
3g.53801390T>ACA353251730CACNA1Dc.5433T>A (p.His1811Gln)
n.2372T>A
n.808T>A
c.5373T>A (p.His1791Gln)
c.5328T>A (p.His1776Gln)
c.1494T>A
n.729T>A
n.800T>A
c.5400T>A (p.His1800Gln)
n.127T>A
c.4452T>A (p.His1484Gln)
c.5628T>A (p.His1876Gln)
c.5517T>A (p.His1839Gln)
c.5439T>A (p.His1813Gln)
c.5091T>A (p.His1697Gln)
c.4716T>A (p.His1572Gln)
c.5523T>A (p.His1841Gln)
c.5625T>A (p.His1875Gln)
c.5568T>A (p.His1856Gln)
c.5544T>A (p.His1848Gln)
c.5499T>A (p.His1833Gln)
3g.53801390T>CCA433804125CACNA1Dc.5433T>C (p.His1811=)
n.2372T>C
n.808T>C
c.5373T>C (p.His1791=)
c.5328T>C (p.His1776=)
c.1494T>C
n.729T>C
n.800T>C
c.5400T>C (p.His1800=)
n.127T>C
c.4452T>C (p.His1484=)
c.5628T>C (p.His1876=)
c.5517T>C (p.His1839=)
c.5439T>C (p.His1813=)
c.5091T>C (p.His1697=)
c.4716T>C (p.His1572=)
c.5523T>C (p.His1841=)
c.5625T>C (p.His1875=)
c.5568T>C (p.His1856=)
c.5544T>C (p.His1848=)
c.5499T>C (p.His1833=)
 dbSNP gnomAD v4
3g.53801390T>GCA353251732CACNA1Dc.5433T>G (p.His1811Gln)
n.2372T>G
n.808T>G
c.5373T>G (p.His1791Gln)
c.5328T>G (p.His1776Gln)
c.1494T>G
n.729T>G
n.800T>G
c.5400T>G (p.His1800Gln)
n.127T>G
c.4452T>G (p.His1484Gln)
c.5628T>G (p.His1876Gln)
c.5517T>G (p.His1839Gln)
c.5439T>G (p.His1813Gln)
c.5091T>G (p.His1697Gln)
c.4716T>G (p.His1572Gln)
c.5523T>G (p.His1841Gln)
c.5625T>G (p.His1875Gln)
c.5568T>G (p.His1856Gln)
c.5544T>G (p.His1848Gln)
c.5499T>G (p.His1833Gln)
3g.53801390T=CA1365484227CACNA1Dc.5433T= (p.His1811=)
n.2372T=
n.808T=
c.5373T= (p.His1791=)
c.5328T= (p.His1776=)
c.1494T=
n.729T=
n.800T=
c.5400T= (p.His1800=)
n.127T=
c.4452T= (p.His1484=)
c.5628T= (p.His1876=)
c.5517T= (p.His1839=)
c.5439T= (p.His1813=)
c.5091T= (p.His1697=)
c.4716T= (p.His1572=)
c.5523T= (p.His1841=)
c.5625T= (p.His1875=)
c.5568T= (p.His1856=)
c.5544T= (p.His1848=)
c.5499T= (p.His1833=)
3g.53801391G>ACA353251734CACNA1Dc.5434G>A (p.Asp1812Asn)
n.2373G>A
n.809G>A
c.5374G>A (p.Asp1792Asn)
c.5329G>A (p.Asp1777Asn)
c.1495G>A
n.730G>A
n.801G>A
c.5401G>A (p.Asp1801Asn)
n.128G>A
c.4453G>A (p.Asp1485Asn)
c.5629G>A (p.Asp1877Asn)
c.5518G>A (p.Asp1840Asn)
c.5440G>A (p.Asp1814Asn)
c.5092G>A (p.Asp1698Asn)
c.4717G>A (p.Asp1573Asn)
c.5524G>A (p.Asp1842Asn)
c.5626G>A (p.Asp1876Asn)
c.5569G>A (p.Asp1857Asn)
c.5545G>A (p.Asp1849Asn)
c.5500G>A (p.Asp1834Asn)
 gnomAD v4
3g.53801391G>CCA353251737CACNA1Dc.5434G>C (p.Asp1812His)
n.2373G>C
n.809G>C
c.5374G>C (p.Asp1792His)
c.5329G>C (p.Asp1777His)
c.1495G>C
n.730G>C
n.801G>C
c.5401G>C (p.Asp1801His)
n.128G>C
c.4453G>C (p.Asp1485His)
c.5629G>C (p.Asp1877His)
c.5518G>C (p.Asp1840His)
c.5440G>C (p.Asp1814His)
c.5092G>C (p.Asp1698His)
c.4717G>C (p.Asp1573His)
c.5524G>C (p.Asp1842His)
c.5626G>C (p.Asp1876His)
c.5569G>C (p.Asp1857His)
c.5545G>C (p.Asp1849His)
c.5500G>C (p.Asp1834His)
3g.53801391G>TCA353251739CACNA1Dc.5434G>T (p.Asp1812Tyr)
n.2373G>T
n.809G>T
c.5374G>T (p.Asp1792Tyr)
c.5329G>T (p.Asp1777Tyr)
c.1495G>T
n.730G>T
n.801G>T
c.5401G>T (p.Asp1801Tyr)
n.128G>T
c.4453G>T (p.Asp1485Tyr)
c.5629G>T (p.Asp1877Tyr)
c.5518G>T (p.Asp1840Tyr)
c.5440G>T (p.Asp1814Tyr)
c.5092G>T (p.Asp1698Tyr)
c.4717G>T (p.Asp1573Tyr)
c.5524G>T (p.Asp1842Tyr)
c.5626G>T (p.Asp1876Tyr)
c.5569G>T (p.Asp1857Tyr)
c.5545G>T (p.Asp1849Tyr)
c.5500G>T (p.Asp1834Tyr)
 gnomAD v4
3g.53801392A>CCA353251745CACNA1Dc.5435A>C (p.Asp1812Ala)
n.2374A>C
n.810A>C
c.5375A>C (p.Asp1792Ala)
c.5330A>C (p.Asp1777Ala)
c.1496A>C
n.731A>C
n.802A>C
c.5402A>C (p.Asp1801Ala)
n.129A>C
c.4454A>C (p.Asp1485Ala)
c.5630A>C (p.Asp1877Ala)
c.5519A>C (p.Asp1840Ala)
c.5441A>C (p.Asp1814Ala)
c.5093A>C (p.Asp1698Ala)
c.4718A>C (p.Asp1573Ala)
c.5525A>C (p.Asp1842Ala)
c.5627A>C (p.Asp1876Ala)
c.5570A>C (p.Asp1857Ala)
c.5546A>C (p.Asp1849Ala)
c.5501A>C (p.Asp1834Ala)
3g.53801392A>GCA353251742CACNA1Dc.5435A>G (p.Asp1812Gly)
n.2374A>G
n.810A>G
c.5375A>G (p.Asp1792Gly)
c.5330A>G (p.Asp1777Gly)
c.1496A>G
n.731A>G
n.802A>G
c.5402A>G (p.Asp1801Gly)
n.129A>G
c.4454A>G (p.Asp1485Gly)
c.5630A>G (p.Asp1877Gly)
c.5519A>G (p.Asp1840Gly)
c.5441A>G (p.Asp1814Gly)
c.5093A>G (p.Asp1698Gly)
c.4718A>G (p.Asp1573Gly)
c.5525A>G (p.Asp1842Gly)
c.5627A>G (p.Asp1876Gly)
c.5570A>G (p.Asp1857Gly)
c.5546A>G (p.Asp1849Gly)
c.5501A>G (p.Asp1834Gly)
3g.53801392A>TCA353251743CACNA1Dc.5435A>T (p.Asp1812Val)
n.2374A>T
n.810A>T
c.5375A>T (p.Asp1792Val)
c.5330A>T (p.Asp1777Val)
c.1496A>T
n.731A>T
n.802A>T
c.5402A>T (p.Asp1801Val)
n.129A>T
c.4454A>T (p.Asp1485Val)
c.5630A>T (p.Asp1877Val)
c.5519A>T (p.Asp1840Val)
c.5441A>T (p.Asp1814Val)
c.5093A>T (p.Asp1698Val)
c.4718A>T (p.Asp1573Val)
c.5525A>T (p.Asp1842Val)
c.5627A>T (p.Asp1876Val)
c.5570A>T (p.Asp1857Val)
c.5546A>T (p.Asp1849Val)
c.5501A>T (p.Asp1834Val)
3g.53801393C>ACA353251747CACNA1Dc.5436C>A (p.Asp1812Glu)
n.2375C>A
n.811C>A
c.5376C>A (p.Asp1792Glu)
c.5331C>A (p.Asp1777Glu)
c.1497C>A
n.732C>A
n.803C>A
c.5403C>A (p.Asp1801Glu)
n.130C>A
c.4455C>A (p.Asp1485Glu)
c.5631C>A (p.Asp1877Glu)
c.5520C>A (p.Asp1840Glu)
c.5442C>A (p.Asp1814Glu)
c.5094C>A (p.Asp1698Glu)
c.4719C>A (p.Asp1573Glu)
c.5526C>A (p.Asp1842Glu)
c.5628C>A (p.Asp1876Glu)
c.5571C>A (p.Asp1857Glu)
c.5547C>A (p.Asp1849Glu)
c.5502C>A (p.Asp1834Glu)
3g.53801393C>GCA353251749CACNA1Dc.5436C>G (p.Asp1812Glu)
n.2375C>G
n.811C>G
c.5376C>G (p.Asp1792Glu)
c.5331C>G (p.Asp1777Glu)
c.1497C>G
n.732C>G
n.803C>G
c.5403C>G (p.Asp1801Glu)
n.130C>G
c.4455C>G (p.Asp1485Glu)
c.5631C>G (p.Asp1877Glu)
c.5520C>G (p.Asp1840Glu)
c.5442C>G (p.Asp1814Glu)
c.5094C>G (p.Asp1698Glu)
c.4719C>G (p.Asp1573Glu)
c.5526C>G (p.Asp1842Glu)
c.5628C>G (p.Asp1876Glu)
c.5571C>G (p.Asp1857Glu)
c.5547C>G (p.Asp1849Glu)
c.5502C>G (p.Asp1834Glu)
3g.53801393C>TCA433804129CACNA1Dc.5436C>T (p.Asp1812=)
n.2375C>T
n.811C>T
c.5376C>T (p.Asp1792=)
c.5331C>T (p.Asp1777=)
c.1497C>T
n.732C>T
n.803C>T
c.5403C>T (p.Asp1801=)
n.130C>T
c.4455C>T (p.Asp1485=)
c.5631C>T (p.Asp1877=)
c.5520C>T (p.Asp1840=)
c.5442C>T (p.Asp1814=)
c.5094C>T (p.Asp1698=)
c.4719C>T (p.Asp1573=)
c.5526C>T (p.Asp1842=)
c.5628C>T (p.Asp1876=)
c.5571C>T (p.Asp1857=)
c.5547C>T (p.Asp1849=)
c.5502C>T (p.Asp1834=)
3g.53801394C>ACA433804130CACNA1Dc.5437C>A (p.Arg1813=)
n.2376C>A
n.812C>A
c.5377C>A (p.Arg1793=)
c.5332C>A (p.Arg1778=)
c.1498C>A
n.733C>A
n.804C>A
c.5404C>A (p.Arg1802=)
n.131C>A
c.4456C>A (p.Arg1486=)
c.5632C>A (p.Arg1878=)
c.5521C>A (p.Arg1841=)
c.5443C>A (p.Arg1815=)
c.5095C>A (p.Arg1699=)
c.4720C>A (p.Arg1574=)
c.5527C>A (p.Arg1843=)
c.5629C>A (p.Arg1877=)
c.5572C>A (p.Arg1858=)
c.5548C>A (p.Arg1850=)
c.5503C>A (p.Arg1835=)
3g.53801394C=CA1365484228CACNA1Dc.5437C= (p.Arg1813=)
n.2376C=
n.812C=
c.5377C= (p.Arg1793=)
c.5332C= (p.Arg1778=)
c.1498C=
n.733C=
n.804C=
c.5404C= (p.Arg1802=)
n.131C=
c.4456C= (p.Arg1486=)
c.5632C= (p.Arg1878=)
c.5521C= (p.Arg1841=)
c.5443C= (p.Arg1815=)
c.5095C= (p.Arg1699=)
c.4720C= (p.Arg1574=)
c.5527C= (p.Arg1843=)
c.5629C= (p.Arg1877=)
c.5572C= (p.Arg1858=)
c.5548C= (p.Arg1850=)
c.5503C= (p.Arg1835=)
3g.53801394C>GCA353251751CACNA1Dc.5437C>G (p.Arg1813Gly)
n.2376C>G
n.812C>G
c.5377C>G (p.Arg1793Gly)
c.5332C>G (p.Arg1778Gly)
c.1498C>G
n.733C>G
n.804C>G
c.5404C>G (p.Arg1802Gly)
n.131C>G
c.4456C>G (p.Arg1486Gly)
c.5632C>G (p.Arg1878Gly)
c.5521C>G (p.Arg1841Gly)
c.5443C>G (p.Arg1815Gly)
c.5095C>G (p.Arg1699Gly)
c.4720C>G (p.Arg1574Gly)
c.5527C>G (p.Arg1843Gly)
c.5629C>G (p.Arg1877Gly)
c.5572C>G (p.Arg1858Gly)
c.5548C>G (p.Arg1850Gly)
c.5503C>G (p.Arg1835Gly)
3g.53801394C>TCA2455109CACNA1Dc.5437C>T (p.Arg1813Trp)
n.2376C>T
n.812C>T
c.5377C>T (p.Arg1793Trp)
c.5332C>T (p.Arg1778Trp)
c.1498C>T
n.733C>T
n.804C>T
c.5404C>T (p.Arg1802Trp)
n.131C>T
c.4456C>T (p.Arg1486Trp)
c.5632C>T (p.Arg1878Trp)
c.5521C>T (p.Arg1841Trp)
c.5443C>T (p.Arg1815Trp)
c.5095C>T (p.Arg1699Trp)
c.4720C>T (p.Arg1574Trp)
c.5527C>T (p.Arg1843Trp)
c.5629C>T (p.Arg1877Trp)
c.5572C>T (p.Arg1858Trp)
c.5548C>T (p.Arg1850Trp)
c.5503C>T (p.Arg1835Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.53801395G>ACA2455110CACNA1Dc.5438G>A (p.Arg1813Gln)
n.2377G>A
n.813G>A
c.5378G>A (p.Arg1793Gln)
c.5333G>A (p.Arg1778Gln)
c.1499G>A
n.734G>A
n.805G>A
c.5405G>A (p.Arg1802Gln)
n.132G>A
c.4457G>A (p.Arg1486Gln)
c.5633G>A (p.Arg1878Gln)
c.5522G>A (p.Arg1841Gln)
c.5444G>A (p.Arg1815Gln)
c.5096G>A (p.Arg1699Gln)
c.4721G>A (p.Arg1574Gln)
c.5528G>A (p.Arg1843Gln)
c.5630G>A (p.Arg1877Gln)
c.5573G>A (p.Arg1858Gln)
c.5549G>A (p.Arg1850Gln)
c.5504G>A (p.Arg1835Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.53801395G>CCA353251756CACNA1Dc.5438G>C (p.Arg1813Pro)
n.2377G>C
n.813G>C
c.5378G>C (p.Arg1793Pro)
c.5333G>C (p.Arg1778Pro)
c.1499G>C
n.734G>C
n.805G>C
c.5405G>C (p.Arg1802Pro)
n.132G>C
c.4457G>C (p.Arg1486Pro)
c.5633G>C (p.Arg1878Pro)
c.5522G>C (p.Arg1841Pro)
c.5444G>C (p.Arg1815Pro)
c.5096G>C (p.Arg1699Pro)
c.4721G>C (p.Arg1574Pro)
c.5528G>C (p.Arg1843Pro)
c.5630G>C (p.Arg1877Pro)
c.5573G>C (p.Arg1858Pro)
c.5549G>C (p.Arg1850Pro)
c.5504G>C (p.Arg1835Pro)
3g.53801395G=CA1365484229CACNA1Dc.5438G= (p.Arg1813=)
n.2377G=
n.813G=
c.5378G= (p.Arg1793=)
c.5333G= (p.Arg1778=)
c.1499G=
n.734G=
n.805G=
c.5405G= (p.Arg1802=)
n.132G=
c.4457G= (p.Arg1486=)
c.5633G= (p.Arg1878=)
c.5522G= (p.Arg1841=)
c.5444G= (p.Arg1815=)
c.5096G= (p.Arg1699=)
c.4721G= (p.Arg1574=)
c.5528G= (p.Arg1843=)
c.5630G= (p.Arg1877=)
c.5573G= (p.Arg1858=)
c.5549G= (p.Arg1850=)
c.5504G= (p.Arg1835=)
3g.53801395G>TCA353251757CACNA1Dc.5438G>T (p.Arg1813Leu)
n.2377G>T
n.813G>T
c.5378G>T (p.Arg1793Leu)
c.5333G>T (p.Arg1778Leu)
c.1499G>T
n.734G>T
n.805G>T
c.5405G>T (p.Arg1802Leu)
n.132G>T
c.4457G>T (p.Arg1486Leu)
c.5633G>T (p.Arg1878Leu)
c.5522G>T (p.Arg1841Leu)
c.5444G>T (p.Arg1815Leu)
c.5096G>T (p.Arg1699Leu)
c.4721G>T (p.Arg1574Leu)
c.5528G>T (p.Arg1843Leu)
c.5630G>T (p.Arg1877Leu)
c.5573G>T (p.Arg1858Leu)
c.5549G>T (p.Arg1850Leu)
c.5504G>T (p.Arg1835Leu)
3g.53801396G>ACA433804134CACNA1Dc.5439G>A (p.Arg1813=)
n.2378G>A
n.814G>A
c.5379G>A (p.Arg1793=)
c.5334G>A (p.Arg1778=)
c.1500G>A
n.735G>A
n.806G>A
c.5406G>A (p.Arg1802=)
n.133G>A
c.4458G>A (p.Arg1486=)
c.5634G>A (p.Arg1878=)
c.5523G>A (p.Arg1841=)
c.5445G>A (p.Arg1815=)
c.5097G>A (p.Arg1699=)
c.4722G>A (p.Arg1574=)
c.5529G>A (p.Arg1843=)
c.5631G>A (p.Arg1877=)
c.5574G>A (p.Arg1858=)
c.5550G>A (p.Arg1850=)
c.5505G>A (p.Arg1835=)
 gnomAD v4
3g.53801396G>CCA433804135CACNA1Dc.5439G>C (p.Arg1813=)
n.2378G>C
n.814G>C
c.5379G>C (p.Arg1793=)
c.5334G>C (p.Arg1778=)
c.1500G>C
n.735G>C
n.806G>C
c.5406G>C (p.Arg1802=)
n.133G>C
c.4458G>C (p.Arg1486=)
c.5634G>C (p.Arg1878=)
c.5523G>C (p.Arg1841=)
c.5445G>C (p.Arg1815=)
c.5097G>C (p.Arg1699=)
c.4722G>C (p.Arg1574=)
c.5529G>C (p.Arg1843=)
c.5631G>C (p.Arg1877=)
c.5574G>C (p.Arg1858=)
c.5550G>C (p.Arg1850=)
c.5505G>C (p.Arg1835=)
3g.53801396G>TCA433804136CACNA1Dc.5439G>T (p.Arg1813=)
n.2378G>T
n.814G>T
c.5379G>T (p.Arg1793=)
c.5334G>T (p.Arg1778=)
c.1500G>T
n.735G>T
n.806G>T
c.5406G>T (p.Arg1802=)
n.133G>T
c.4458G>T (p.Arg1486=)
c.5634G>T (p.Arg1878=)
c.5523G>T (p.Arg1841=)
c.5445G>T (p.Arg1815=)
c.5097G>T (p.Arg1699=)
c.4722G>T (p.Arg1574=)
c.5529G>T (p.Arg1843=)
c.5631G>T (p.Arg1877=)
c.5574G>T (p.Arg1858=)
c.5550G>T (p.Arg1850=)
c.5505G>T (p.Arg1835=)
3g.53801397G>ACA353251758CACNA1Dc.5440G>A (p.Glu1814Lys)
n.2379G>A
n.815G>A
c.5380G>A (p.Glu1794Lys)
c.5335G>A (p.Glu1779Lys)
c.1501G>A
n.736G>A
n.807G>A
c.5407G>A (p.Glu1803Lys)
n.134G>A
c.4459G>A (p.Glu1487Lys)
c.5635G>A (p.Glu1879Lys)
c.5524G>A (p.Glu1842Lys)
c.5446G>A (p.Glu1816Lys)
c.5098G>A (p.Glu1700Lys)
c.4723G>A (p.Glu1575Lys)
c.5530G>A (p.Glu1844Lys)
c.5632G>A (p.Glu1878Lys)
c.5575G>A (p.Glu1859Lys)
c.5551G>A (p.Glu1851Lys)
c.5506G>A (p.Glu1836Lys)
 COSMIC COSMIC
3g.53801397G>CCA353251760CACNA1Dc.5440G>C (p.Glu1814Gln)
n.2379G>C
n.815G>C
c.5380G>C (p.Glu1794Gln)
c.5335G>C (p.Glu1779Gln)
c.1501G>C
n.736G>C
n.807G>C
c.5407G>C (p.Glu1803Gln)
n.134G>C
c.4459G>C (p.Glu1487Gln)
c.5635G>C (p.Glu1879Gln)
c.5524G>C (p.Glu1842Gln)
c.5446G>C (p.Glu1816Gln)
c.5098G>C (p.Glu1700Gln)
c.4723G>C (p.Glu1575Gln)
c.5530G>C (p.Glu1844Gln)
c.5632G>C (p.Glu1878Gln)
c.5575G>C (p.Glu1859Gln)
c.5551G>C (p.Glu1851Gln)
c.5506G>C (p.Glu1836Gln)
3g.53801397G>TCA353251762CACNA1Dc.5440G>T (p.Glu1814Ter)
n.2379G>T
n.815G>T
c.5380G>T (p.Glu1794Ter)
c.5335G>T (p.Glu1779Ter)
c.1501G>T
n.736G>T
n.807G>T
c.5407G>T (p.Glu1803Ter)
n.134G>T
c.4459G>T (p.Glu1487Ter)
c.5635G>T (p.Glu1879Ter)
c.5524G>T (p.Glu1842Ter)
c.5446G>T (p.Glu1816Ter)
c.5098G>T (p.Glu1700Ter)
c.4723G>T (p.Glu1575Ter)
c.5530G>T (p.Glu1844Ter)
c.5632G>T (p.Glu1878Ter)
c.5575G>T (p.Glu1859Ter)
c.5551G>T (p.Glu1851Ter)
c.5506G>T (p.Glu1836Ter)
3g.53801398A>CCA353251767CACNA1Dc.5441A>C (p.Glu1814Ala)
n.2380A>C
n.816A>C
c.5381A>C (p.Glu1794Ala)
c.5336A>C (p.Glu1779Ala)
c.1502A>C
n.737A>C
n.808A>C
c.5408A>C (p.Glu1803Ala)
n.135A>C
c.4460A>C (p.Glu1487Ala)
c.5636A>C (p.Glu1879Ala)
c.5525A>C (p.Glu1842Ala)
c.5447A>C (p.Glu1816Ala)
c.5099A>C (p.Glu1700Ala)
c.4724A>C (p.Glu1575Ala)
c.5531A>C (p.Glu1844Ala)
c.5633A>C (p.Glu1878Ala)
c.5576A>C (p.Glu1859Ala)
c.5552A>C (p.Glu1851Ala)
c.5507A>C (p.Glu1836Ala)
3g.53801398A>GCA353251768CACNA1Dc.5441A>G (p.Glu1814Gly)
n.2380A>G
n.816A>G
c.5381A>G (p.Glu1794Gly)
c.5336A>G (p.Glu1779Gly)
c.1502A>G
n.737A>G
n.808A>G
c.5408A>G (p.Glu1803Gly)
n.135A>G
c.4460A>G (p.Glu1487Gly)
c.5636A>G (p.Glu1879Gly)
c.5525A>G (p.Glu1842Gly)
c.5447A>G (p.Glu1816Gly)
c.5099A>G (p.Glu1700Gly)
c.4724A>G (p.Glu1575Gly)
c.5531A>G (p.Glu1844Gly)
c.5633A>G (p.Glu1878Gly)
c.5576A>G (p.Glu1859Gly)
c.5552A>G (p.Glu1851Gly)
c.5507A>G (p.Glu1836Gly)
3g.53801398A>TCA353251765CACNA1Dc.5441A>T (p.Glu1814Val)
n.2380A>T
n.816A>T
c.5381A>T (p.Glu1794Val)
c.5336A>T (p.Glu1779Val)
c.1502A>T
n.737A>T
n.808A>T
c.5408A>T (p.Glu1803Val)
n.135A>T
c.4460A>T (p.Glu1487Val)
c.5636A>T (p.Glu1879Val)
c.5525A>T (p.Glu1842Val)
c.5447A>T (p.Glu1816Val)
c.5099A>T (p.Glu1700Val)
c.4724A>T (p.Glu1575Val)
c.5531A>T (p.Glu1844Val)
c.5633A>T (p.Glu1878Val)
c.5576A>T (p.Glu1859Val)
c.5552A>T (p.Glu1851Val)
c.5507A>T (p.Glu1836Val)
3g.53801399G>ACA433804139CACNA1Dc.5442G>A (p.Glu1814=)
n.2381G>A
n.817G>A
c.5382G>A (p.Glu1794=)
c.5337G>A (p.Glu1779=)
c.1503G>A
n.738G>A
n.809G>A
c.5409G>A (p.Glu1803=)
n.136G>A
c.4461G>A (p.Glu1487=)
c.5637G>A (p.Glu1879=)
c.5526G>A (p.Glu1842=)
c.5448G>A (p.Glu1816=)
c.5100G>A (p.Glu1700=)
c.4725G>A (p.Glu1575=)
c.5532G>A (p.Glu1844=)
c.5634G>A (p.Glu1878=)
c.5577G>A (p.Glu1859=)
c.5553G>A (p.Glu1851=)
c.5508G>A (p.Glu1836=)
3g.53801399G>CCA353251770CACNA1Dc.5442G>C (p.Glu1814Asp)
n.2381G>C
n.817G>C
c.5382G>C (p.Glu1794Asp)
c.5337G>C (p.Glu1779Asp)
c.1503G>C
n.738G>C
n.809G>C
c.5409G>C (p.Glu1803Asp)
n.136G>C
c.4461G>C (p.Glu1487Asp)
c.5637G>C (p.Glu1879Asp)
c.5526G>C (p.Glu1842Asp)
c.5448G>C (p.Glu1816Asp)
c.5100G>C (p.Glu1700Asp)
c.4725G>C (p.Glu1575Asp)
c.5532G>C (p.Glu1844Asp)
c.5634G>C (p.Glu1878Asp)
c.5577G>C (p.Glu1859Asp)
c.5553G>C (p.Glu1851Asp)
c.5508G>C (p.Glu1836Asp)
3g.53801399G>TCA353251771CACNA1Dc.5442G>T (p.Glu1814Asp)
n.2381G>T
n.817G>T
c.5382G>T (p.Glu1794Asp)
c.5337G>T (p.Glu1779Asp)
c.1503G>T
n.738G>T
n.809G>T
c.5409G>T (p.Glu1803Asp)
n.136G>T
c.4461G>T (p.Glu1487Asp)
c.5637G>T (p.Glu1879Asp)
c.5526G>T (p.Glu1842Asp)
c.5448G>T (p.Glu1816Asp)
c.5100G>T (p.Glu1700Asp)
c.4725G>T (p.Glu1575Asp)
c.5532G>T (p.Glu1844Asp)
c.5634G>T (p.Glu1878Asp)
c.5577G>T (p.Glu1859Asp)
c.5553G>T (p.Glu1851Asp)
c.5508G>T (p.Glu1836Asp)
3g.53801400C>ACA353251774CACNA1Dc.5443C>A (p.Pro1815Thr)
n.2382C>A
n.818C>A
c.5383C>A (p.Pro1795Thr)
c.5338C>A (p.Pro1780Thr)
c.1504C>A
n.739C>A
n.810C>A
c.5410C>A (p.Pro1804Thr)
n.137C>A
c.4462C>A (p.Pro1488Thr)
c.5638C>A (p.Pro1880Thr)
c.5527C>A (p.Pro1843Thr)
c.5449C>A (p.Pro1817Thr)
c.5101C>A (p.Pro1701Thr)
c.4726C>A (p.Pro1576Thr)
c.5533C>A (p.Pro1845Thr)
c.5635C>A (p.Pro1879Thr)
c.5578C>A (p.Pro1860Thr)
c.5554C>A (p.Pro1852Thr)
c.5509C>A (p.Pro1837Thr)
 gnomAD v4
3g.53801400C>GCA353251776CACNA1Dc.5443C>G (p.Pro1815Ala)
n.2382C>G
n.818C>G
c.5383C>G (p.Pro1795Ala)
c.5338C>G (p.Pro1780Ala)
c.1504C>G
n.739C>G
n.810C>G
c.5410C>G (p.Pro1804Ala)
n.137C>G
c.4462C>G (p.Pro1488Ala)
c.5638C>G (p.Pro1880Ala)
c.5527C>G (p.Pro1843Ala)
c.5449C>G (p.Pro1817Ala)
c.5101C>G (p.Pro1701Ala)
c.4726C>G (p.Pro1576Ala)
c.5533C>G (p.Pro1845Ala)
c.5635C>G (p.Pro1879Ala)
c.5578C>G (p.Pro1860Ala)
c.5554C>G (p.Pro1852Ala)
c.5509C>G (p.Pro1837Ala)
3g.53801400C>TCA353251777CACNA1Dc.5443C>T (p.Pro1815Ser)
n.2382C>T
n.818C>T
c.5383C>T (p.Pro1795Ser)
c.5338C>T (p.Pro1780Ser)
c.1504C>T
n.739C>T
n.810C>T
c.5410C>T (p.Pro1804Ser)
n.137C>T
c.4462C>T (p.Pro1488Ser)
c.5638C>T (p.Pro1880Ser)
c.5527C>T (p.Pro1843Ser)
c.5449C>T (p.Pro1817Ser)
c.5101C>T (p.Pro1701Ser)
c.4726C>T (p.Pro1576Ser)
c.5533C>T (p.Pro1845Ser)
c.5635C>T (p.Pro1879Ser)
c.5578C>T (p.Pro1860Ser)
c.5554C>T (p.Pro1852Ser)
c.5509C>T (p.Pro1837Ser)
3g.53801401C>ACA353251780CACNA1Dc.5444C>A (p.Pro1815His)
n.2383C>A
n.819C>A
c.5384C>A (p.Pro1795His)
c.5339C>A (p.Pro1780His)
c.1505C>A
n.740C>A
n.811C>A
c.5411C>A (p.Pro1804His)
n.138C>A
c.4463C>A (p.Pro1488His)
c.5639C>A (p.Pro1880His)
c.5528C>A (p.Pro1843His)
c.5450C>A (p.Pro1817His)
c.5102C>A (p.Pro1701His)
c.4727C>A (p.Pro1576His)
c.5534C>A (p.Pro1845His)
c.5636C>A (p.Pro1879His)
c.5579C>A (p.Pro1860His)
c.5555C>A (p.Pro1852His)
c.5510C>A (p.Pro1837His)
 dbSNP gnomAD v2
3g.53801401C=CA1365484230CACNA1Dc.5444C= (p.Pro1815=)
n.2383C=
n.819C=
c.5384C= (p.Pro1795=)
c.5339C= (p.Pro1780=)
c.1505C=
n.740C=
n.811C=
c.5411C= (p.Pro1804=)
n.138C=
c.4463C= (p.Pro1488=)
c.5639C= (p.Pro1880=)
c.5528C= (p.Pro1843=)
c.5450C= (p.Pro1817=)
c.5102C= (p.Pro1701=)
c.4727C= (p.Pro1576=)
c.5534C= (p.Pro1845=)
c.5636C= (p.Pro1879=)
c.5579C= (p.Pro1860=)
c.5555C= (p.Pro1852=)
c.5510C= (p.Pro1837=)
3g.53801401C>GCA353251782CACNA1Dc.5444C>G (p.Pro1815Arg)
n.2383C>G
n.819C>G
c.5384C>G (p.Pro1795Arg)
c.5339C>G (p.Pro1780Arg)
c.1505C>G
n.740C>G
n.811C>G
c.5411C>G (p.Pro1804Arg)
n.138C>G
c.4463C>G (p.Pro1488Arg)
c.5639C>G (p.Pro1880Arg)
c.5528C>G (p.Pro1843Arg)
c.5450C>G (p.Pro1817Arg)
c.5102C>G (p.Pro1701Arg)
c.4727C>G (p.Pro1576Arg)
c.5534C>G (p.Pro1845Arg)
c.5636C>G (p.Pro1879Arg)
c.5579C>G (p.Pro1860Arg)
c.5555C>G (p.Pro1852Arg)
c.5510C>G (p.Pro1837Arg)
3g.53801401C>TCA353251784CACNA1Dc.5444C>T (p.Pro1815Leu)
n.2383C>T
n.819C>T
c.5384C>T (p.Pro1795Leu)
c.5339C>T (p.Pro1780Leu)
c.1505C>T
n.740C>T
n.811C>T
c.5411C>T (p.Pro1804Leu)
n.138C>T
c.4463C>T (p.Pro1488Leu)
c.5639C>T (p.Pro1880Leu)
c.5528C>T (p.Pro1843Leu)
c.5450C>T (p.Pro1817Leu)
c.5102C>T (p.Pro1701Leu)
c.4727C>T (p.Pro1576Leu)
c.5534C>T (p.Pro1845Leu)
c.5636C>T (p.Pro1879Leu)
c.5579C>T (p.Pro1860Leu)
c.5555C>T (p.Pro1852Leu)
c.5510C>T (p.Pro1837Leu)
3g.53801402T>ACA433804145CACNA1Dc.5445T>A (p.Pro1815=)
n.2384T>A
n.820T>A
c.5385T>A (p.Pro1795=)
c.5340T>A (p.Pro1780=)
c.1506T>A
n.741T>A
n.812T>A
c.5412T>A (p.Pro1804=)
n.139T>A
c.4464T>A (p.Pro1488=)
c.5640T>A (p.Pro1880=)
c.5529T>A (p.Pro1843=)
c.5451T>A (p.Pro1817=)
c.5103T>A (p.Pro1701=)
c.4728T>A (p.Pro1576=)
c.5535T>A (p.Pro1845=)
c.5637T>A (p.Pro1879=)
c.5580T>A (p.Pro1860=)
c.5556T>A (p.Pro1852=)
c.5511T>A (p.Pro1837=)
3g.53801402T>CCA433804144CACNA1Dc.5445T>C (p.Pro1815=)
n.2384T>C
n.820T>C
c.5385T>C (p.Pro1795=)
c.5340T>C (p.Pro1780=)
c.1506T>C
n.741T>C
n.812T>C
c.5412T>C (p.Pro1804=)
n.139T>C
c.4464T>C (p.Pro1488=)
c.5640T>C (p.Pro1880=)
c.5529T>C (p.Pro1843=)
c.5451T>C (p.Pro1817=)
c.5103T>C (p.Pro1701=)
c.4728T>C (p.Pro1576=)
c.5535T>C (p.Pro1845=)
c.5637T>C (p.Pro1879=)
c.5580T>C (p.Pro1860=)
c.5556T>C (p.Pro1852=)
c.5511T>C (p.Pro1837=)
3g.53801402T>GCA433804143CACNA1Dc.5445T>G (p.Pro1815=)
n.2384T>G
n.820T>G
c.5385T>G (p.Pro1795=)
c.5340T>G (p.Pro1780=)
c.1506T>G
n.741T>G
n.812T>G
c.5412T>G (p.Pro1804=)
n.139T>G
c.4464T>G (p.Pro1488=)
c.5640T>G (p.Pro1880=)
c.5529T>G (p.Pro1843=)
c.5451T>G (p.Pro1817=)
c.5103T>G (p.Pro1701=)
c.4728T>G (p.Pro1576=)
c.5535T>G (p.Pro1845=)
c.5637T>G (p.Pro1879=)
c.5580T>G (p.Pro1860=)
c.5556T>G (p.Pro1852=)
c.5511T>G (p.Pro1837=)
3g.53801403C>ACA353251786CACNA1Dc.5446C>A (p.Gln1816Lys)
n.2385C>A
n.821C>A
c.5386C>A (p.Gln1796Lys)
c.5341C>A (p.Gln1781Lys)
c.1507C>A
n.742C>A
n.813C>A
c.5413C>A (p.Gln1805Lys)
n.140C>A
c.4465C>A (p.Gln1489Lys)
c.5641C>A (p.Gln1881Lys)
c.5530C>A (p.Gln1844Lys)
c.5452C>A (p.Gln1818Lys)
c.5104C>A (p.Gln1702Lys)
c.4729C>A (p.Gln1577Lys)
c.5536C>A (p.Gln1846Lys)
c.5638C>A (p.Gln1880Lys)
c.5581C>A (p.Gln1861Lys)
c.5557C>A (p.Gln1853Lys)
c.5512C>A (p.Gln1838Lys)
3g.53801403C>GCA353251788CACNA1Dc.5446C>G (p.Gln1816Glu)
n.2385C>G
n.821C>G
c.5386C>G (p.Gln1796Glu)
c.5341C>G (p.Gln1781Glu)
c.1507C>G
n.742C>G
n.813C>G
c.5413C>G (p.Gln1805Glu)
n.140C>G
c.4465C>G (p.Gln1489Glu)
c.5641C>G (p.Gln1881Glu)
c.5530C>G (p.Gln1844Glu)
c.5452C>G (p.Gln1818Glu)
c.5104C>G (p.Gln1702Glu)
c.4729C>G (p.Gln1577Glu)
c.5536C>G (p.Gln1846Glu)
c.5638C>G (p.Gln1880Glu)
c.5581C>G (p.Gln1861Glu)
c.5557C>G (p.Gln1853Glu)
c.5512C>G (p.Gln1838Glu)
3g.53801403C>TCA353251790CACNA1Dc.5446C>T (p.Gln1816Ter)
n.2385C>T
n.821C>T
c.5386C>T (p.Gln1796Ter)
c.5341C>T (p.Gln1781Ter)
c.1507C>T
n.742C>T
n.813C>T
c.5413C>T (p.Gln1805Ter)
n.140C>T
c.4465C>T (p.Gln1489Ter)
c.5641C>T (p.Gln1881Ter)
c.5530C>T (p.Gln1844Ter)
c.5452C>T (p.Gln1818Ter)
c.5104C>T (p.Gln1702Ter)
c.4729C>T (p.Gln1577Ter)
c.5536C>T (p.Gln1846Ter)
c.5638C>T (p.Gln1880Ter)
c.5581C>T (p.Gln1861Ter)
c.5557C>T (p.Gln1853Ter)
c.5512C>T (p.Gln1838Ter)
3g.53801404A>CCA353251794CACNA1Dc.5447A>C (p.Gln1816Pro)
n.2386A>C
n.822A>C
c.5387A>C (p.Gln1796Pro)
c.5342A>C (p.Gln1781Pro)
c.1508A>C
n.743A>C
n.814A>C
c.5414A>C (p.Gln1805Pro)
n.141A>C
c.4466A>C (p.Gln1489Pro)
c.5642A>C (p.Gln1881Pro)
c.5531A>C (p.Gln1844Pro)
c.5453A>C (p.Gln1818Pro)
c.5105A>C (p.Gln1702Pro)
c.4730A>C (p.Gln1577Pro)
c.5537A>C (p.Gln1846Pro)
c.5639A>C (p.Gln1880Pro)
c.5582A>C (p.Gln1861Pro)
c.5558A>C (p.Gln1853Pro)
c.5513A>C (p.Gln1838Pro)
3g.53801404A>GCA353251796CACNA1Dc.5447A>G (p.Gln1816Arg)
n.2386A>G
n.822A>G
c.5387A>G (p.Gln1796Arg)
c.5342A>G (p.Gln1781Arg)
c.1508A>G
n.743A>G
n.814A>G
c.5414A>G (p.Gln1805Arg)
n.141A>G
c.4466A>G (p.Gln1489Arg)
c.5642A>G (p.Gln1881Arg)
c.5531A>G (p.Gln1844Arg)
c.5453A>G (p.Gln1818Arg)
c.5105A>G (p.Gln1702Arg)
c.4730A>G (p.Gln1577Arg)
c.5537A>G (p.Gln1846Arg)
c.5639A>G (p.Gln1880Arg)
c.5582A>G (p.Gln1861Arg)
c.5558A>G (p.Gln1853Arg)
c.5513A>G (p.Gln1838Arg)
3g.53801404A>TCA353251792CACNA1Dc.5447A>T (p.Gln1816Leu)
n.2386A>T
n.822A>T
c.5387A>T (p.Gln1796Leu)
c.5342A>T (p.Gln1781Leu)
c.1508A>T
n.743A>T
n.814A>T
c.5414A>T (p.Gln1805Leu)
n.141A>T
c.4466A>T (p.Gln1489Leu)
c.5642A>T (p.Gln1881Leu)
c.5531A>T (p.Gln1844Leu)
c.5453A>T (p.Gln1818Leu)
c.5105A>T (p.Gln1702Leu)
c.4730A>T (p.Gln1577Leu)
c.5537A>T (p.Gln1846Leu)
c.5639A>T (p.Gln1880Leu)
c.5582A>T (p.Gln1861Leu)
c.5558A>T (p.Gln1853Leu)
c.5513A>T (p.Gln1838Leu)
3g.53801405G>ACA433804147CACNA1Dc.5448G>A (p.Gln1816=)
n.2387G>A
n.823G>A
c.5388G>A (p.Gln1796=)
c.5343G>A (p.Gln1781=)
c.1509G>A
n.744G>A
n.815G>A
c.5415G>A (p.Gln1805=)
n.142G>A
c.4467G>A (p.Gln1489=)
c.5643G>A (p.Gln1881=)
c.5532G>A (p.Gln1844=)
c.5454G>A (p.Gln1818=)
c.5106G>A (p.Gln1702=)
c.4731G>A (p.Gln1577=)
c.5538G>A (p.Gln1846=)
c.5640G>A (p.Gln1880=)
c.5583G>A (p.Gln1861=)
c.5559G>A (p.Gln1853=)
c.5514G>A (p.Gln1838=)
3g.53801405G>CCA353251798CACNA1Dc.5448G>C (p.Gln1816His)
n.2387G>C
n.823G>C
c.5388G>C (p.Gln1796His)
c.5343G>C (p.Gln1781His)
c.1509G>C
n.744G>C
n.815G>C
c.5415G>C (p.Gln1805His)
n.142G>C
c.4467G>C (p.Gln1489His)
c.5643G>C (p.Gln1881His)
c.5532G>C (p.Gln1844His)
c.5454G>C (p.Gln1818His)
c.5106G>C (p.Gln1702His)
c.4731G>C (p.Gln1577His)
c.5538G>C (p.Gln1846His)
c.5640G>C (p.Gln1880His)
c.5583G>C (p.Gln1861His)
c.5559G>C (p.Gln1853His)
c.5514G>C (p.Gln1838His)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.53801405G=CA1365484231CACNA1Dc.5448G= (p.Gln1816=)
n.2387G=
n.823G=
c.5388G= (p.Gln1796=)
c.5343G= (p.Gln1781=)
c.1509G=
n.744G=
n.815G=
c.5415G= (p.Gln1805=)
n.142G=
c.4467G= (p.Gln1489=)
c.5643G= (p.Gln1881=)
c.5532G= (p.Gln1844=)
c.5454G= (p.Gln1818=)
c.5106G= (p.Gln1702=)
c.4731G= (p.Gln1577=)
c.5538G= (p.Gln1846=)
c.5640G= (p.Gln1880=)
c.5583G= (p.Gln1861=)
c.5559G= (p.Gln1853=)
c.5514G= (p.Gln1838=)
3g.53801405G>TCA353251800CACNA1Dc.5448G>T (p.Gln1816His)
n.2387G>T
n.823G>T
c.5388G>T (p.Gln1796His)
c.5343G>T (p.Gln1781His)
c.1509G>T
n.744G>T
n.815G>T
c.5415G>T (p.Gln1805His)
n.142G>T
c.4467G>T (p.Gln1489His)
c.5643G>T (p.Gln1881His)
c.5532G>T (p.Gln1844His)
c.5454G>T (p.Gln1818His)
c.5106G>T (p.Gln1702His)
c.4731G>T (p.Gln1577His)
c.5538G>T (p.Gln1846His)
c.5640G>T (p.Gln1880His)
c.5583G>T (p.Gln1861His)
c.5559G>T (p.Gln1853His)
c.5514G>T (p.Gln1838His)
3g.53801406A>CCA433804148CACNA1Dc.5449A>C (p.Arg1817=)
n.2388A>C
n.824A>C
c.5389A>C (p.Arg1797=)
c.5344A>C (p.Arg1782=)
c.1510A>C
n.745A>C
n.816A>C
c.5416A>C (p.Arg1806=)
n.143A>C
c.4468A>C (p.Arg1490=)
c.5644A>C (p.Arg1882=)
c.5533A>C (p.Arg1845=)
c.5455A>C (p.Arg1819=)
c.5107A>C (p.Arg1703=)
c.4732A>C (p.Arg1578=)
c.5539A>C (p.Arg1847=)
c.5641A>C (p.Arg1881=)
c.5584A>C (p.Arg1862=)
c.5560A>C (p.Arg1854=)
c.5515A>C (p.Arg1839=)
3g.53801406A>GCA353251802CACNA1Dc.5449A>G (p.Arg1817Gly)
n.2388A>G
n.824A>G
c.5389A>G (p.Arg1797Gly)
c.5344A>G (p.Arg1782Gly)
c.1510A>G
n.745A>G
n.816A>G
c.5416A>G (p.Arg1806Gly)
n.143A>G
c.4468A>G (p.Arg1490Gly)
c.5644A>G (p.Arg1882Gly)
c.5533A>G (p.Arg1845Gly)
c.5455A>G (p.Arg1819Gly)
c.5107A>G (p.Arg1703Gly)
c.4732A>G (p.Arg1578Gly)
c.5539A>G (p.Arg1847Gly)
c.5641A>G (p.Arg1881Gly)
c.5584A>G (p.Arg1862Gly)
c.5560A>G (p.Arg1854Gly)
c.5515A>G (p.Arg1839Gly)
3g.53801406A>TCA353251804CACNA1Dc.5449A>T (p.Arg1817Ter)
n.2388A>T
n.824A>T
c.5389A>T (p.Arg1797Ter)
c.5344A>T (p.Arg1782Ter)
c.1510A>T
n.745A>T
n.816A>T
c.5416A>T (p.Arg1806Ter)
n.143A>T
c.4468A>T (p.Arg1490Ter)
c.5644A>T (p.Arg1882Ter)
c.5533A>T (p.Arg1845Ter)
c.5455A>T (p.Arg1819Ter)
c.5107A>T (p.Arg1703Ter)
c.4732A>T (p.Arg1578Ter)
c.5539A>T (p.Arg1847Ter)
c.5641A>T (p.Arg1881Ter)
c.5584A>T (p.Arg1862Ter)
c.5560A>T (p.Arg1854Ter)
c.5515A>T (p.Arg1839Ter)
3g.53801407G>ACA353251810CACNA1Dc.5450G>A (p.Arg1817Lys)
n.2389G>A
n.825G>A
c.5390G>A (p.Arg1797Lys)
c.5345G>A (p.Arg1782Lys)
c.1511G>A
n.746G>A
n.817G>A
c.5417G>A (p.Arg1806Lys)
n.144G>A
c.4469G>A (p.Arg1490Lys)
c.5645G>A (p.Arg1882Lys)
c.5534G>A (p.Arg1845Lys)
c.5456G>A (p.Arg1819Lys)
c.5108G>A (p.Arg1703Lys)
c.4733G>A (p.Arg1578Lys)
c.5540G>A (p.Arg1847Lys)
c.5642G>A (p.Arg1881Lys)
c.5585G>A (p.Arg1862Lys)
c.5561G>A (p.Arg1854Lys)
c.5516G>A (p.Arg1839Lys)
 gnomAD v4
3g.53801407G>CCA353251808CACNA1Dc.5450G>C (p.Arg1817Thr)
n.2389G>C
n.825G>C
c.5390G>C (p.Arg1797Thr)
c.5345G>C (p.Arg1782Thr)
c.1511G>C
n.746G>C
n.817G>C
c.5417G>C (p.Arg1806Thr)
n.144G>C
c.4469G>C (p.Arg1490Thr)
c.5645G>C (p.Arg1882Thr)
c.5534G>C (p.Arg1845Thr)
c.5456G>C (p.Arg1819Thr)
c.5108G>C (p.Arg1703Thr)
c.4733G>C (p.Arg1578Thr)
c.5540G>C (p.Arg1847Thr)
c.5642G>C (p.Arg1881Thr)
c.5585G>C (p.Arg1862Thr)
c.5561G>C (p.Arg1854Thr)
c.5516G>C (p.Arg1839Thr)
3g.53801407G>TCA353251806CACNA1Dc.5450G>T (p.Arg1817Ile)
n.2389G>T
n.825G>T
c.5390G>T (p.Arg1797Ile)
c.5345G>T (p.Arg1782Ile)
c.1511G>T
n.746G>T
n.817G>T
c.5417G>T (p.Arg1806Ile)
n.144G>T
c.4469G>T (p.Arg1490Ile)
c.5645G>T (p.Arg1882Ile)
c.5534G>T (p.Arg1845Ile)
c.5456G>T (p.Arg1819Ile)
c.5108G>T (p.Arg1703Ile)
c.4733G>T (p.Arg1578Ile)
c.5540G>T (p.Arg1847Ile)
c.5642G>T (p.Arg1881Ile)
c.5585G>T (p.Arg1862Ile)
c.5561G>T (p.Arg1854Ile)
c.5516G>T (p.Arg1839Ile)
 COSMIC COSMIC
3g.53801408A>CCA353251812CACNA1Dc.5451A>C (p.Arg1817Ser)
n.2390A>C
n.826A>C
c.5391A>C (p.Arg1797Ser)
c.5346A>C (p.Arg1782Ser)
c.1512A>C
n.747A>C
n.818A>C
c.5418A>C (p.Arg1806Ser)
n.145A>C
c.4470A>C (p.Arg1490Ser)
c.5646A>C (p.Arg1882Ser)
c.5535A>C (p.Arg1845Ser)
c.5457A>C (p.Arg1819Ser)
c.5109A>C (p.Arg1703Ser)
c.4734A>C (p.Arg1578Ser)
c.5541A>C (p.Arg1847Ser)
c.5643A>C (p.Arg1881Ser)
c.5586A>C (p.Arg1862Ser)
c.5562A>C (p.Arg1854Ser)
c.5517A>C (p.Arg1839Ser)
3g.53801408A>GCA433804149CACNA1Dc.5451A>G (p.Arg1817=)
n.2390A>G
n.826A>G
c.5391A>G (p.Arg1797=)
c.5346A>G (p.Arg1782=)
c.1512A>G
n.747A>G
n.818A>G
c.5418A>G (p.Arg1806=)
n.145A>G
c.4470A>G (p.Arg1490=)
c.5646A>G (p.Arg1882=)
c.5535A>G (p.Arg1845=)
c.5457A>G (p.Arg1819=)
c.5109A>G (p.Arg1703=)
c.4734A>G (p.Arg1578=)
c.5541A>G (p.Arg1847=)
c.5643A>G (p.Arg1881=)
c.5586A>G (p.Arg1862=)
c.5562A>G (p.Arg1854=)
c.5517A>G (p.Arg1839=)
3g.53801408A>TCA353251814CACNA1Dc.5451A>T (p.Arg1817Ser)
n.2390A>T
n.826A>T
c.5391A>T (p.Arg1797Ser)
c.5346A>T (p.Arg1782Ser)
c.1512A>T
n.747A>T
n.818A>T
c.5418A>T (p.Arg1806Ser)
n.145A>T
c.4470A>T (p.Arg1490Ser)
c.5646A>T (p.Arg1882Ser)
c.5535A>T (p.Arg1845Ser)
c.5457A>T (p.Arg1819Ser)
c.5109A>T (p.Arg1703Ser)
c.4734A>T (p.Arg1578Ser)
c.5541A>T (p.Arg1847Ser)
c.5643A>T (p.Arg1881Ser)
c.5586A>T (p.Arg1862Ser)
c.5562A>T (p.Arg1854Ser)
c.5517A>T (p.Arg1839Ser)
3g.53801409A>CCA433804150CACNA1Dc.5452A>C (p.Arg1818=)
n.2391A>C
n.827A>C
c.5392A>C (p.Arg1798=)
c.5347A>C (p.Arg1783=)
c.1513A>C
n.748A>C
n.819A>C
c.5419A>C (p.Arg1807=)
n.146A>C
c.4471A>C (p.Arg1491=)
c.5647A>C (p.Arg1883=)
c.5536A>C (p.Arg1846=)
c.5458A>C (p.Arg1820=)
c.5110A>C (p.Arg1704=)
c.4735A>C (p.Arg1579=)
c.5542A>C (p.Arg1848=)
c.5644A>C (p.Arg1882=)
c.5587A>C (p.Arg1863=)
c.5563A>C (p.Arg1855=)
c.5518A>C (p.Arg1840=)
3g.53801409A>GCA353251817CACNA1Dc.5452A>G (p.Arg1818Gly)
n.2391A>G
n.827A>G
c.5392A>G (p.Arg1798Gly)
c.5347A>G (p.Arg1783Gly)
c.1513A>G
n.748A>G
n.819A>G
c.5419A>G (p.Arg1807Gly)
n.146A>G
c.4471A>G (p.Arg1491Gly)
c.5647A>G (p.Arg1883Gly)
c.5536A>G (p.Arg1846Gly)
c.5458A>G (p.Arg1820Gly)
c.5110A>G (p.Arg1704Gly)
c.4735A>G (p.Arg1579Gly)
c.5542A>G (p.Arg1848Gly)
c.5644A>G (p.Arg1882Gly)
c.5587A>G (p.Arg1863Gly)
c.5563A>G (p.Arg1855Gly)
c.5518A>G (p.Arg1840Gly)
3g.53801409A>TCA353251818CACNA1Dc.5452A>T (p.Arg1818Trp)
n.2391A>T
n.827A>T
c.5392A>T (p.Arg1798Trp)
c.5347A>T (p.Arg1783Trp)
c.1513A>T
n.748A>T
n.819A>T
c.5419A>T (p.Arg1807Trp)
n.146A>T
c.4471A>T (p.Arg1491Trp)
c.5647A>T (p.Arg1883Trp)
c.5536A>T (p.Arg1846Trp)
c.5458A>T (p.Arg1820Trp)
c.5110A>T (p.Arg1704Trp)
c.4735A>T (p.Arg1579Trp)
c.5542A>T (p.Arg1848Trp)
c.5644A>T (p.Arg1882Trp)
c.5587A>T (p.Arg1863Trp)
c.5563A>T (p.Arg1855Trp)
c.5518A>T (p.Arg1840Trp)
3g.53801410G>ACA353251822CACNA1Dc.5453G>A (p.Arg1818Lys)
n.2392G>A
n.828G>A
c.5393G>A (p.Arg1798Lys)
c.5348G>A (p.Arg1783Lys)
c.1514G>A
n.749G>A
n.820G>A
c.5420G>A (p.Arg1807Lys)
n.147G>A
c.4472G>A (p.Arg1491Lys)
c.5648G>A (p.Arg1883Lys)
c.5537G>A (p.Arg1846Lys)
c.5459G>A (p.Arg1820Lys)
c.5111G>A (p.Arg1704Lys)
c.4736G>A (p.Arg1579Lys)
c.5543G>A (p.Arg1848Lys)
c.5645G>A (p.Arg1882Lys)
c.5588G>A (p.Arg1863Lys)
c.5564G>A (p.Arg1855Lys)
c.5519G>A (p.Arg1840Lys)
 dbSNP gnomAD v2 gnomAD v4
3g.53801410G>CCA353251823CACNA1Dc.5453G>C (p.Arg1818Thr)
n.2392G>C
n.828G>C
c.5393G>C (p.Arg1798Thr)
c.5348G>C (p.Arg1783Thr)
c.1514G>C
n.749G>C
n.820G>C
c.5420G>C (p.Arg1807Thr)
n.147G>C
c.4472G>C (p.Arg1491Thr)
c.5648G>C (p.Arg1883Thr)
c.5537G>C (p.Arg1846Thr)
c.5459G>C (p.Arg1820Thr)
c.5111G>C (p.Arg1704Thr)
c.4736G>C (p.Arg1579Thr)
c.5543G>C (p.Arg1848Thr)
c.5645G>C (p.Arg1882Thr)
c.5588G>C (p.Arg1863Thr)
c.5564G>C (p.Arg1855Thr)
c.5519G>C (p.Arg1840Thr)
3g.53801410G=CA1365484232CACNA1Dc.5453G= (p.Arg1818=)
n.2392G=
n.828G=
c.5393G= (p.Arg1798=)
c.5348G= (p.Arg1783=)
c.1514G=
n.749G=
n.820G=
c.5420G= (p.Arg1807=)
n.147G=
c.4472G= (p.Arg1491=)
c.5648G= (p.Arg1883=)
c.5537G= (p.Arg1846=)
c.5459G= (p.Arg1820=)
c.5111G= (p.Arg1704=)
c.4736G= (p.Arg1579=)
c.5543G= (p.Arg1848=)
c.5645G= (p.Arg1882=)
c.5588G= (p.Arg1863=)
c.5564G= (p.Arg1855=)
c.5519G= (p.Arg1840=)
3g.53801410G>TCA353251825CACNA1Dc.5453G>T (p.Arg1818Met)
n.2392G>T
n.828G>T
c.5393G>T (p.Arg1798Met)
c.5348G>T (p.Arg1783Met)
c.1514G>T
n.749G>T
n.820G>T
c.5420G>T (p.Arg1807Met)
n.147G>T
c.4472G>T (p.Arg1491Met)
c.5648G>T (p.Arg1883Met)
c.5537G>T (p.Arg1846Met)
c.5459G>T (p.Arg1820Met)
c.5111G>T (p.Arg1704Met)
c.4736G>T (p.Arg1579Met)
c.5543G>T (p.Arg1848Met)
c.5645G>T (p.Arg1882Met)
c.5588G>T (p.Arg1863Met)
c.5564G>T (p.Arg1855Met)
c.5519G>T (p.Arg1840Met)
3g.53801411G>ACA433804151CACNA1Dc.5454G>A (p.Arg1818=)
n.2393G>A
n.829G>A
c.5394G>A (p.Arg1798=)
c.5349G>A (p.Arg1783=)
c.1515G>A
n.750G>A
n.821G>A
c.5421G>A (p.Arg1807=)
n.148G>A
c.4473G>A (p.Arg1491=)
c.5649G>A (p.Arg1883=)
c.5538G>A (p.Arg1846=)
c.5460G>A (p.Arg1820=)
c.5112G>A (p.Arg1704=)
c.4737G>A (p.Arg1579=)
c.5544G>A (p.Arg1848=)
c.5646G>A (p.Arg1882=)
c.5589G>A (p.Arg1863=)
c.5565G>A (p.Arg1855=)
c.5520G>A (p.Arg1840=)
3g.53801411G>CCA353251829CACNA1Dc.5454G>C (p.Arg1818Ser)
n.2393G>C
n.829G>C
c.5394G>C (p.Arg1798Ser)
c.5349G>C (p.Arg1783Ser)
c.1515G>C
n.750G>C
n.821G>C
c.5421G>C (p.Arg1807Ser)
n.148G>C
c.4473G>C (p.Arg1491Ser)
c.5649G>C (p.Arg1883Ser)
c.5538G>C (p.Arg1846Ser)
c.5460G>C (p.Arg1820Ser)
c.5112G>C (p.Arg1704Ser)
c.4737G>C (p.Arg1579Ser)
c.5544G>C (p.Arg1848Ser)
c.5646G>C (p.Arg1882Ser)
c.5589G>C (p.Arg1863Ser)
c.5565G>C (p.Arg1855Ser)
c.5520G>C (p.Arg1840Ser)
3g.53801411G>TCA353251827CACNA1Dc.5454G>T (p.Arg1818Ser)
n.2393G>T
n.829G>T
c.5394G>T (p.Arg1798Ser)
c.5349G>T (p.Arg1783Ser)
c.1515G>T
n.750G>T
n.821G>T
c.5421G>T (p.Arg1807Ser)
n.148G>T
c.4473G>T (p.Arg1491Ser)
c.5649G>T (p.Arg1883Ser)
c.5538G>T (p.Arg1846Ser)
c.5460G>T (p.Arg1820Ser)
c.5112G>T (p.Arg1704Ser)
c.4737G>T (p.Arg1579Ser)
c.5544G>T (p.Arg1848Ser)
c.5646G>T (p.Arg1882Ser)
c.5589G>T (p.Arg1863Ser)
c.5565G>T (p.Arg1855Ser)
c.5520G>T (p.Arg1840Ser)
3g.53801412T>ACA353251830CACNA1Dc.5455T>A (p.Ser1819Thr)
n.2394T>A
n.830T>A
c.5395T>A (p.Ser1799Thr)
c.5350T>A (p.Ser1784Thr)
c.1516T>A
n.751T>A
n.822T>A
c.5422T>A (p.Ser1808Thr)
n.149T>A
c.4474T>A (p.Ser1492Thr)
c.5650T>A (p.Ser1884Thr)
c.5539T>A (p.Ser1847Thr)
c.5461T>A (p.Ser1821Thr)
c.5113T>A (p.Ser1705Thr)
c.4738T>A (p.Ser1580Thr)
c.5545T>A (p.Ser1849Thr)
c.5647T>A (p.Ser1883Thr)
c.5590T>A (p.Ser1864Thr)
c.5566T>A (p.Ser1856Thr)
c.5521T>A (p.Ser1841Thr)
3g.53801412T>CCA353251832CACNA1Dc.5455T>C (p.Ser1819Pro)
n.2394T>C
n.830T>C
c.5395T>C (p.Ser1799Pro)
c.5350T>C (p.Ser1784Pro)
c.1516T>C
n.751T>C
n.822T>C
c.5422T>C (p.Ser1808Pro)
n.149T>C
c.4474T>C (p.Ser1492Pro)
c.5650T>C (p.Ser1884Pro)
c.5539T>C (p.Ser1847Pro)
c.5461T>C (p.Ser1821Pro)
c.5113T>C (p.Ser1705Pro)
c.4738T>C (p.Ser1580Pro)
c.5545T>C (p.Ser1849Pro)
c.5647T>C (p.Ser1883Pro)
c.5590T>C (p.Ser1864Pro)
c.5566T>C (p.Ser1856Pro)
c.5521T>C (p.Ser1841Pro)
3g.53801412T>GCA353251833CACNA1Dc.5455T>G (p.Ser1819Ala)
n.2394T>G
n.830T>G
c.5395T>G (p.Ser1799Ala)
c.5350T>G (p.Ser1784Ala)
c.1516T>G
n.751T>G
n.822T>G
c.5422T>G (p.Ser1808Ala)
n.149T>G
c.4474T>G (p.Ser1492Ala)
c.5650T>G (p.Ser1884Ala)
c.5539T>G (p.Ser1847Ala)
c.5461T>G (p.Ser1821Ala)
c.5113T>G (p.Ser1705Ala)
c.4738T>G (p.Ser1580Ala)
c.5545T>G (p.Ser1849Ala)
c.5647T>G (p.Ser1883Ala)
c.5590T>G (p.Ser1864Ala)
c.5566T>G (p.Ser1856Ala)
c.5521T>G (p.Ser1841Ala)
3g.53801413C>ACA74859999CACNA1Dc.5456C>A (p.Ser1819Tyr)
n.2395C>A
n.831C>A
c.5396C>A (p.Ser1799Tyr)
c.5351C>A (p.Ser1784Tyr)
c.1517C>A
n.752C>A
n.823C>A
c.5423C>A (p.Ser1808Tyr)
n.150C>A
c.4475C>A (p.Ser1492Tyr)
c.5651C>A (p.Ser1884Tyr)
c.5540C>A (p.Ser1847Tyr)
c.5462C>A (p.Ser1821Tyr)
c.5114C>A (p.Ser1705Tyr)
c.4739C>A (p.Ser1580Tyr)
c.5546C>A (p.Ser1849Tyr)
c.5648C>A (p.Ser1883Tyr)
c.5591C>A (p.Ser1864Tyr)
c.5567C>A (p.Ser1856Tyr)
c.5522C>A (p.Ser1841Tyr)
 dbSNP gnomAD v4
3g.53801413C=CA1365484233CACNA1Dc.5456C= (p.Ser1819=)
n.2395C=
n.831C=
c.5396C= (p.Ser1799=)
c.5351C= (p.Ser1784=)
c.1517C=
n.752C=
n.823C=
c.5423C= (p.Ser1808=)
n.150C=
c.4475C= (p.Ser1492=)
c.5651C= (p.Ser1884=)
c.5540C= (p.Ser1847=)
c.5462C= (p.Ser1821=)
c.5114C= (p.Ser1705=)
c.4739C= (p.Ser1580=)
c.5546C= (p.Ser1849=)
c.5648C= (p.Ser1883=)
c.5591C= (p.Ser1864=)
c.5567C= (p.Ser1856=)
c.5522C= (p.Ser1841=)
3g.53801413C>GCA353251839CACNA1Dc.5456C>G (p.Ser1819Cys)
n.2395C>G
n.831C>G
c.5396C>G (p.Ser1799Cys)
c.5351C>G (p.Ser1784Cys)
c.1517C>G
n.752C>G
n.823C>G
c.5423C>G (p.Ser1808Cys)
n.150C>G
c.4475C>G (p.Ser1492Cys)
c.5651C>G (p.Ser1884Cys)
c.5540C>G (p.Ser1847Cys)
c.5462C>G (p.Ser1821Cys)
c.5114C>G (p.Ser1705Cys)
c.4739C>G (p.Ser1580Cys)
c.5546C>G (p.Ser1849Cys)
c.5648C>G (p.Ser1883Cys)
c.5591C>G (p.Ser1864Cys)
c.5567C>G (p.Ser1856Cys)
c.5522C>G (p.Ser1841Cys)
 COSMIC
3g.53801413C>TCA2455111CACNA1Dc.5456C>T (p.Ser1819Phe)
n.2395C>T
n.831C>T
c.5396C>T (p.Ser1799Phe)
c.5351C>T (p.Ser1784Phe)
c.1517C>T
n.752C>T
n.823C>T
c.5423C>T (p.Ser1808Phe)
n.150C>T
c.4475C>T (p.Ser1492Phe)
c.5651C>T (p.Ser1884Phe)
c.5540C>T (p.Ser1847Phe)
c.5462C>T (p.Ser1821Phe)
c.5114C>T (p.Ser1705Phe)
c.4739C>T (p.Ser1580Phe)
c.5546C>T (p.Ser1849Phe)
c.5648C>T (p.Ser1883Phe)
c.5591C>T (p.Ser1864Phe)
c.5567C>T (p.Ser1856Phe)
c.5522C>T (p.Ser1841Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.53801414C>ACA433804152CACNA1Dc.5457C>A (p.Ser1819=)
n.2396C>A
n.832C>A
c.5397C>A (p.Ser1799=)
c.5352C>A (p.Ser1784=)
c.1518C>A
n.753C>A
n.824C>A
c.5424C>A (p.Ser1808=)
n.151C>A
c.4476C>A (p.Ser1492=)
c.5652C>A (p.Ser1884=)
c.5541C>A (p.Ser1847=)
c.5463C>A (p.Ser1821=)
c.5115C>A (p.Ser1705=)
c.4740C>A (p.Ser1580=)
c.5547C>A (p.Ser1849=)
c.5649C>A (p.Ser1883=)
c.5592C>A (p.Ser1864=)
c.5568C>A (p.Ser1856=)
c.5523C>A (p.Ser1841=)
3g.53801414C>GCA433804154CACNA1Dc.5457C>G (p.Ser1819=)
n.2396C>G
n.832C>G
c.5397C>G (p.Ser1799=)
c.5352C>G (p.Ser1784=)
c.1518C>G
n.753C>G
n.824C>G
c.5424C>G (p.Ser1808=)
n.151C>G
c.4476C>G (p.Ser1492=)
c.5652C>G (p.Ser1884=)
c.5541C>G (p.Ser1847=)
c.5463C>G (p.Ser1821=)
c.5115C>G (p.Ser1705=)
c.4740C>G (p.Ser1580=)
c.5547C>G (p.Ser1849=)
c.5649C>G (p.Ser1883=)
c.5592C>G (p.Ser1864=)
c.5568C>G (p.Ser1856=)
c.5523C>G (p.Ser1841=)
3g.53801414C>TCA433804153CACNA1Dc.5457C>T (p.Ser1819=)
n.2396C>T
n.832C>T
c.5397C>T (p.Ser1799=)
c.5352C>T (p.Ser1784=)
c.1518C>T
n.753C>T
n.824C>T
c.5424C>T (p.Ser1808=)
n.151C>T
c.4476C>T (p.Ser1492=)
c.5652C>T (p.Ser1884=)
c.5541C>T (p.Ser1847=)
c.5463C>T (p.Ser1821=)
c.5115C>T (p.Ser1705=)
c.4740C>T (p.Ser1580=)
c.5547C>T (p.Ser1849=)
c.5649C>T (p.Ser1883=)
c.5592C>T (p.Ser1864=)
c.5568C>T (p.Ser1856=)
c.5523C>T (p.Ser1841=)
 gnomAD v4
3g.53801415A=CA1365484234CACNA1Dc.5458A= (p.Ser1820=)
n.2397A=
n.833A=
c.5398A= (p.Ser1800=)
c.5353A= (p.Ser1785=)
c.1519A=
n.754A=
n.825A=
c.5425A= (p.Ser1809=)
n.152A=
c.4477A= (p.Ser1493=)
c.5653A= (p.Ser1885=)
c.5542A= (p.Ser1848=)
c.5464A= (p.Ser1822=)
c.5116A= (p.Ser1706=)
c.4741A= (p.Ser1581=)
c.5548A= (p.Ser1850=)
c.5650A= (p.Ser1884=)
c.5593A= (p.Ser1865=)
c.5569A= (p.Ser1857=)
c.5524A= (p.Ser1842=)
3g.53801415A>CCA353251861CACNA1Dc.5458A>C (p.Ser1820Arg)
n.2397A>C
n.833A>C
c.5398A>C (p.Ser1800Arg)
c.5353A>C (p.Ser1785Arg)
c.1519A>C
n.754A>C
n.825A>C
c.5425A>C (p.Ser1809Arg)
n.152A>C
c.4477A>C (p.Ser1493Arg)
c.5653A>C (p.Ser1885Arg)
c.5542A>C (p.Ser1848Arg)
c.5464A>C (p.Ser1822Arg)
c.5116A>C (p.Ser1706Arg)
c.4741A>C (p.Ser1581Arg)
c.5548A>C (p.Ser1850Arg)
c.5650A>C (p.Ser1884Arg)
c.5593A>C (p.Ser1865Arg)
c.5569A>C (p.Ser1857Arg)
c.5524A>C (p.Ser1842Arg)
3g.53801415A>GCA353251846CACNA1Dc.5458A>G (p.Ser1820Gly)
n.2397A>G
n.833A>G
c.5398A>G (p.Ser1800Gly)
c.5353A>G (p.Ser1785Gly)
c.1519A>G
n.754A>G
n.825A>G
c.5425A>G (p.Ser1809Gly)
n.152A>G
c.4477A>G (p.Ser1493Gly)
c.5653A>G (p.Ser1885Gly)
c.5542A>G (p.Ser1848Gly)
c.5464A>G (p.Ser1822Gly)
c.5116A>G (p.Ser1706Gly)
c.4741A>G (p.Ser1581Gly)
c.5548A>G (p.Ser1850Gly)
c.5650A>G (p.Ser1884Gly)
c.5593A>G (p.Ser1865Gly)
c.5569A>G (p.Ser1857Gly)
c.5524A>G (p.Ser1842Gly)
 dbSNP gnomAD v3 gnomAD v4
3g.53801415A>TCA353251858CACNA1Dc.5458A>T (p.Ser1820Cys)
n.2397A>T
n.833A>T
c.5398A>T (p.Ser1800Cys)
c.5353A>T (p.Ser1785Cys)
c.1519A>T
n.754A>T
n.825A>T
c.5425A>T (p.Ser1809Cys)
n.152A>T
c.4477A>T (p.Ser1493Cys)
c.5653A>T (p.Ser1885Cys)
c.5542A>T (p.Ser1848Cys)
c.5464A>T (p.Ser1822Cys)
c.5116A>T (p.Ser1706Cys)
c.4741A>T (p.Ser1581Cys)
c.5548A>T (p.Ser1850Cys)
c.5650A>T (p.Ser1884Cys)
c.5593A>T (p.Ser1865Cys)
c.5569A>T (p.Ser1857Cys)
c.5524A>T (p.Ser1842Cys)
 ClinVar
3g.53801416G>ACA353251864CACNA1Dc.5459G>A (p.Ser1820Asn)
n.2398G>A
n.834G>A
c.5399G>A (p.Ser1800Asn)
c.5354G>A (p.Ser1785Asn)
c.1520G>A
n.755G>A
n.826G>A
c.5426G>A (p.Ser1809Asn)
n.153G>A
c.4478G>A (p.Ser1493Asn)
c.5654G>A (p.Ser1885Asn)
c.5543G>A (p.Ser1848Asn)
c.5465G>A (p.Ser1822Asn)
c.5117G>A (p.Ser1706Asn)
c.4742G>A (p.Ser1581Asn)
c.5549G>A (p.Ser1850Asn)
c.5651G>A (p.Ser1884Asn)
c.5594G>A (p.Ser1865Asn)
c.5570G>A (p.Ser1857Asn)
c.5525G>A (p.Ser1842Asn)
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.53801416G>CCA353251865CACNA1Dc.5459G>C (p.Ser1820Thr)
n.2398G>C
n.834G>C
c.5399G>C (p.Ser1800Thr)
c.5354G>C (p.Ser1785Thr)
c.1520G>C
n.755G>C
n.826G>C
c.5426G>C (p.Ser1809Thr)
n.153G>C
c.4478G>C (p.Ser1493Thr)
c.5654G>C (p.Ser1885Thr)
c.5543G>C (p.Ser1848Thr)
c.5465G>C (p.Ser1822Thr)
c.5117G>C (p.Ser1706Thr)
c.4742G>C (p.Ser1581Thr)
c.5549G>C (p.Ser1850Thr)
c.5651G>C (p.Ser1884Thr)
c.5594G>C (p.Ser1865Thr)
c.5570G>C (p.Ser1857Thr)
c.5525G>C (p.Ser1842Thr)
 COSMIC COSMIC
3g.53801416G=CA1365484235CACNA1Dc.5459G= (p.Ser1820=)
n.2398G=
n.834G=
c.5399G= (p.Ser1800=)
c.5354G= (p.Ser1785=)
c.1520G=
n.755G=
n.826G=
c.5426G= (p.Ser1809=)
n.153G=
c.4478G= (p.Ser1493=)
c.5654G= (p.Ser1885=)
c.5543G= (p.Ser1848=)
c.5465G= (p.Ser1822=)
c.5117G= (p.Ser1706=)
c.4742G= (p.Ser1581=)
c.5549G= (p.Ser1850=)
c.5651G= (p.Ser1884=)
c.5594G= (p.Ser1865=)
c.5570G= (p.Ser1857=)
c.5525G= (p.Ser1842=)
3g.53801416G>TCA353251867CACNA1Dc.5459G>T (p.Ser1820Ile)
n.2398G>T
n.834G>T
c.5399G>T (p.Ser1800Ile)
c.5354G>T (p.Ser1785Ile)
c.1520G>T
n.755G>T
n.826G>T
c.5426G>T (p.Ser1809Ile)
n.153G>T
c.4478G>T (p.Ser1493Ile)
c.5654G>T (p.Ser1885Ile)
c.5543G>T (p.Ser1848Ile)
c.5465G>T (p.Ser1822Ile)
c.5117G>T (p.Ser1706Ile)
c.4742G>T (p.Ser1581Ile)
c.5549G>T (p.Ser1850Ile)
c.5651G>T (p.Ser1884Ile)
c.5594G>T (p.Ser1865Ile)
c.5570G>T (p.Ser1857Ile)
c.5525G>T (p.Ser1842Ile)
3g.53801417T>ACA353251869CACNA1Dc.5460T>A (p.Ser1820Arg)
n.2399T>A
n.835T>A
c.5400T>A (p.Ser1800Arg)
c.5355T>A (p.Ser1785Arg)
c.1521T>A
n.756T>A
n.827T>A
c.5427T>A (p.Ser1809Arg)
n.154T>A
c.4479T>A (p.Ser1493Arg)
c.5655T>A (p.Ser1885Arg)
c.5544T>A (p.Ser1848Arg)
c.5466T>A (p.Ser1822Arg)
c.5118T>A (p.Ser1706Arg)
c.4743T>A (p.Ser1581Arg)
c.5550T>A (p.Ser1850Arg)
c.5652T>A (p.Ser1884Arg)
c.5595T>A (p.Ser1865Arg)
c.5571T>A (p.Ser1857Arg)
c.5526T>A (p.Ser1842Arg)
3g.53801417T>CCA433804156CACNA1Dc.5460T>C (p.Ser1820=)
n.2399T>C
n.835T>C
c.5400T>C (p.Ser1800=)
c.5355T>C (p.Ser1785=)
c.1521T>C
n.756T>C
n.827T>C
c.5427T>C (p.Ser1809=)
n.154T>C
c.4479T>C (p.Ser1493=)
c.5655T>C (p.Ser1885=)
c.5544T>C (p.Ser1848=)
c.5466T>C (p.Ser1822=)
c.5118T>C (p.Ser1706=)
c.4743T>C (p.Ser1581=)
c.5550T>C (p.Ser1850=)
c.5652T>C (p.Ser1884=)
c.5595T>C (p.Ser1865=)
c.5571T>C (p.Ser1857=)
c.5526T>C (p.Ser1842=)
3g.53801417T>GCA353251872CACNA1Dc.5460T>G (p.Ser1820Arg)
n.2399T>G
n.835T>G
c.5400T>G (p.Ser1800Arg)
c.5355T>G (p.Ser1785Arg)
c.1521T>G
n.756T>G
n.827T>G
c.5427T>G (p.Ser1809Arg)
n.154T>G
c.4479T>G (p.Ser1493Arg)
c.5655T>G (p.Ser1885Arg)
c.5544T>G (p.Ser1848Arg)
c.5466T>G (p.Ser1822Arg)
c.5118T>G (p.Ser1706Arg)
c.4743T>G (p.Ser1581Arg)
c.5550T>G (p.Ser1850Arg)
c.5652T>G (p.Ser1884Arg)
c.5595T>G (p.Ser1865Arg)
c.5571T>G (p.Ser1857Arg)
c.5526T>G (p.Ser1842Arg)
3g.53801418G>ACA353251881CACNA1Dc.5461G>A (p.Val1821Met)
n.2400G>A
n.836G>A
c.5401G>A (p.Val1801Met)
c.5356G>A (p.Val1786Met)
c.1522G>A
n.757G>A
n.828G>A
c.5428G>A (p.Val1810Met)
n.155G>A
c.4480G>A (p.Val1494Met)
c.5656G>A (p.Val1886Met)
c.5545G>A (p.Val1849Met)
c.5467G>A (p.Val1823Met)
c.5119G>A (p.Val1707Met)
c.4744G>A (p.Val1582Met)
c.5551G>A (p.Val1851Met)
c.5653G>A (p.Val1885Met)
c.5596G>A (p.Val1866Met)
c.5572G>A (p.Val1858Met)
c.5527G>A (p.Val1843Met)
 dbSNP gnomAD v2 gnomAD v4
3g.53801418G>CCA353251874CACNA1Dc.5461G>C (p.Val1821Leu)
n.2400G>C
n.836G>C
c.5401G>C (p.Val1801Leu)
c.5356G>C (p.Val1786Leu)
c.1522G>C
n.757G>C
n.828G>C
c.5428G>C (p.Val1810Leu)
n.155G>C
c.4480G>C (p.Val1494Leu)
c.5656G>C (p.Val1886Leu)
c.5545G>C (p.Val1849Leu)
c.5467G>C (p.Val1823Leu)
c.5119G>C (p.Val1707Leu)
c.4744G>C (p.Val1582Leu)
c.5551G>C (p.Val1851Leu)
c.5653G>C (p.Val1885Leu)
c.5596G>C (p.Val1866Leu)
c.5572G>C (p.Val1858Leu)
c.5527G>C (p.Val1843Leu)
3g.53801418G=CA1365484236CACNA1Dc.5461G= (p.Val1821=)
n.2400G=
n.836G=
c.5401G= (p.Val1801=)
c.5356G= (p.Val1786=)
c.1522G=
n.757G=
n.828G=
c.5428G= (p.Val1810=)
n.155G=
c.4480G= (p.Val1494=)
c.5656G= (p.Val1886=)
c.5545G= (p.Val1849=)
c.5467G= (p.Val1823=)
c.5119G= (p.Val1707=)
c.4744G= (p.Val1582=)
c.5551G= (p.Val1851=)
c.5653G= (p.Val1885=)
c.5596G= (p.Val1866=)
c.5572G= (p.Val1858=)
c.5527G= (p.Val1843=)
3g.53801418G>TCA353251878CACNA1Dc.5461G>T (p.Val1821Leu)
n.2400G>T
n.836G>T
c.5401G>T (p.Val1801Leu)
c.5356G>T (p.Val1786Leu)
c.1522G>T
n.757G>T
n.828G>T
c.5428G>T (p.Val1810Leu)
n.155G>T
c.4480G>T (p.Val1494Leu)
c.5656G>T (p.Val1886Leu)
c.5545G>T (p.Val1849Leu)
c.5467G>T (p.Val1823Leu)
c.5119G>T (p.Val1707Leu)
c.4744G>T (p.Val1582Leu)
c.5551G>T (p.Val1851Leu)
c.5653G>T (p.Val1885Leu)
c.5596G>T (p.Val1866Leu)
c.5572G>T (p.Val1858Leu)
c.5527G>T (p.Val1843Leu)
3g.53801419T>ACA353251894CACNA1Dc.5462T>A (p.Val1821Glu)
n.2401T>A
n.837T>A
c.5402T>A (p.Val1801Glu)
c.5357T>A (p.Val1786Glu)
c.1523T>A
n.758T>A
n.829T>A
c.5429T>A (p.Val1810Glu)
n.156T>A
c.4481T>A (p.Val1494Glu)
c.5657T>A (p.Val1886Glu)
c.5546T>A (p.Val1849Glu)
c.5468T>A (p.Val1823Glu)
c.5120T>A (p.Val1707Glu)
c.4745T>A (p.Val1582Glu)
c.5552T>A (p.Val1851Glu)
c.5654T>A (p.Val1885Glu)
c.5597T>A (p.Val1866Glu)
c.5573T>A (p.Val1858Glu)
c.5528T>A (p.Val1843Glu)
3g.53801419T>CCA353251897CACNA1Dc.5462T>C (p.Val1821Ala)
n.2401T>C
n.837T>C
c.5402T>C (p.Val1801Ala)
c.5357T>C (p.Val1786Ala)
c.1523T>C
n.758T>C
n.829T>C
c.5429T>C (p.Val1810Ala)
n.156T>C
c.4481T>C (p.Val1494Ala)
c.5657T>C (p.Val1886Ala)
c.5546T>C (p.Val1849Ala)
c.5468T>C (p.Val1823Ala)
c.5120T>C (p.Val1707Ala)
c.4745T>C (p.Val1582Ala)
c.5552T>C (p.Val1851Ala)
c.5654T>C (p.Val1885Ala)
c.5597T>C (p.Val1866Ala)
c.5573T>C (p.Val1858Ala)
c.5528T>C (p.Val1843Ala)
3g.53801419T>GCA2455112CACNA1Dc.5462T>G (p.Val1821Gly)
n.2401T>G
n.837T>G
c.5402T>G (p.Val1801Gly)
c.5357T>G (p.Val1786Gly)
c.1523T>G
n.758T>G
n.829T>G
c.5429T>G (p.Val1810Gly)
n.156T>G
c.4481T>G (p.Val1494Gly)
c.5657T>G (p.Val1886Gly)
c.5546T>G (p.Val1849Gly)
c.5468T>G (p.Val1823Gly)
c.5120T>G (p.Val1707Gly)
c.4745T>G (p.Val1582Gly)
c.5552T>G (p.Val1851Gly)
c.5654T>G (p.Val1885Gly)
c.5597T>G (p.Val1866Gly)
c.5573T>G (p.Val1858Gly)
c.5528T>G (p.Val1843Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.53801419T=CA1365484237CACNA1Dc.5462T= (p.Val1821=)
n.2401T=
n.837T=
c.5402T= (p.Val1801=)
c.5357T= (p.Val1786=)
c.1523T=
n.758T=
n.829T=
c.5429T= (p.Val1810=)
n.156T=
c.4481T= (p.Val1494=)
c.5657T= (p.Val1886=)
c.5546T= (p.Val1849=)
c.5468T= (p.Val1823=)
c.5120T= (p.Val1707=)
c.4745T= (p.Val1582=)
c.5552T= (p.Val1851=)
c.5654T= (p.Val1885=)
c.5597T= (p.Val1866=)
c.5573T= (p.Val1858=)
c.5528T= (p.Val1843=)
3g.53801420G>ACA433804159CACNA1Dc.5463G>A (p.Val1821=)
n.2402G>A
n.838G>A
c.5403G>A (p.Val1801=)
c.5358G>A (p.Val1786=)
c.1524G>A
n.759G>A
n.830G>A
c.5430G>A (p.Val1810=)
n.157G>A
c.4482G>A (p.Val1494=)
c.5658G>A (p.Val1886=)
c.5547G>A (p.Val1849=)
c.5469G>A (p.Val1823=)
c.5121G>A (p.Val1707=)
c.4746G>A (p.Val1582=)
c.5553G>A (p.Val1851=)
c.5655G>A (p.Val1885=)
c.5598G>A (p.Val1866=)
c.5574G>A (p.Val1858=)
c.5529G>A (p.Val1843=)
3g.53801420G>CCA433804160CACNA1Dc.5463G>C (p.Val1821=)
n.2402G>C
n.838G>C
c.5403G>C (p.Val1801=)
c.5358G>C (p.Val1786=)
c.1524G>C
n.759G>C
n.830G>C
c.5430G>C (p.Val1810=)
n.157G>C
c.4482G>C (p.Val1494=)
c.5658G>C (p.Val1886=)
c.5547G>C (p.Val1849=)
c.5469G>C (p.Val1823=)
c.5121G>C (p.Val1707=)
c.4746G>C (p.Val1582=)
c.5553G>C (p.Val1851=)
c.5655G>C (p.Val1885=)
c.5598G>C (p.Val1866=)
c.5574G>C (p.Val1858=)
c.5529G>C (p.Val1843=)
 gnomAD v4
3g.53801420G>TCA433804161CACNA1Dc.5463G>T (p.Val1821=)
n.2402G>T
n.838G>T
c.5403G>T (p.Val1801=)
c.5358G>T (p.Val1786=)
c.1524G>T
n.759G>T
n.830G>T
c.5430G>T (p.Val1810=)
n.157G>T
c.4482G>T (p.Val1494=)
c.5658G>T (p.Val1886=)
c.5547G>T (p.Val1849=)
c.5469G>T (p.Val1823=)
c.5121G>T (p.Val1707=)
c.4746G>T (p.Val1582=)
c.5553G>T (p.Val1851=)
c.5655G>T (p.Val1885=)
c.5598G>T (p.Val1866=)
c.5574G>T (p.Val1858=)
c.5529G>T (p.Val1843=)
3g.53801421A>CCA353251913CACNA1Dc.5464A>C (p.Lys1822Gln)
n.2403A>C
n.839A>C
c.5404A>C (p.Lys1802Gln)
c.5359A>C (p.Lys1787Gln)
c.1525A>C
n.760A>C
n.831A>C
c.5431A>C (p.Lys1811Gln)
n.158A>C
c.4483A>C (p.Lys1495Gln)
c.5659A>C (p.Lys1887Gln)
c.5548A>C (p.Lys1850Gln)
c.5470A>C (p.Lys1824Gln)
c.5122A>C (p.Lys1708Gln)
c.4747A>C (p.Lys1583Gln)
c.5554A>C (p.Lys1852Gln)
c.5656A>C (p.Lys1886Gln)
c.5599A>C (p.Lys1867Gln)
c.5575A>C (p.Lys1859Gln)
c.5530A>C (p.Lys1844Gln)
3g.53801421A>GCA353251916CACNA1Dc.5464A>G (p.Lys1822Glu)
n.2403A>G
n.839A>G
c.5404A>G (p.Lys1802Glu)
c.5359A>G (p.Lys1787Glu)
c.1525A>G
n.760A>G
n.831A>G
c.5431A>G (p.Lys1811Glu)
n.158A>G
c.4483A>G (p.Lys1495Glu)
c.5659A>G (p.Lys1887Glu)
c.5548A>G (p.Lys1850Glu)
c.5470A>G (p.Lys1824Glu)
c.5122A>G (p.Lys1708Glu)
c.4747A>G (p.Lys1583Glu)
c.5554A>G (p.Lys1852Glu)
c.5656A>G (p.Lys1886Glu)
c.5599A>G (p.Lys1867Glu)
c.5575A>G (p.Lys1859Glu)
c.5530A>G (p.Lys1844Glu)
 gnomAD v4
3g.53801421A>TCA353251919CACNA1Dc.5464A>T (p.Lys1822Ter)
n.2403A>T
n.839A>T
c.5404A>T (p.Lys1802Ter)
c.5359A>T (p.Lys1787Ter)
c.1525A>T
n.760A>T
n.831A>T
c.5431A>T (p.Lys1811Ter)
n.158A>T
c.4483A>T (p.Lys1495Ter)
c.5659A>T (p.Lys1887Ter)
c.5548A>T (p.Lys1850Ter)
c.5470A>T (p.Lys1824Ter)
c.5122A>T (p.Lys1708Ter)
c.4747A>T (p.Lys1583Ter)
c.5554A>T (p.Lys1852Ter)
c.5656A>T (p.Lys1886Ter)
c.5599A>T (p.Lys1867Ter)
c.5575A>T (p.Lys1859Ter)
c.5530A>T (p.Lys1844Ter)
3g.53801424dupCA2577794095CACNA1Dc.5467dup (p.Arg1823LysfsTer6)
n.2406dup
n.842dup
c.5407dup (p.Arg1803LysfsTer6)
c.5362dup (p.Arg1788LysfsTer7)
c.1528dup
c.5362dup (p.Arg1788LysfsTer6)
n.763dup
n.834dup
c.5434dup (p.Arg1812LysfsTer6)
n.161dup
c.4486dup (p.Arg1496LysfsTer6)
c.5662dup (p.Arg1888LysfsTer6)
c.5551dup (p.Arg1851LysfsTer6)
c.5473dup (p.Arg1825LysfsTer6)
c.5125dup (p.Arg1709LysfsTer6)
c.4750dup (p.Arg1584LysfsTer6)
c.5557dup (p.Arg1853LysfsTer6)
c.5659dup (p.Arg1887LysfsTer6)
c.5662dup (p.Arg1888LysfsTer7)
c.5602dup (p.Arg1868LysfsTer6)
c.5578dup (p.Arg1860LysfsTer6)
c.5533dup (p.Arg1845LysfsTer6)
3g.53801422A>CCA353251930CACNA1Dc.5465A>C (p.Lys1822Thr)
n.2404A>C
n.840A>C
c.5405A>C (p.Lys1802Thr)
c.5360A>C (p.Lys1787Thr)
c.1526A>C
n.761A>C
n.832A>C
c.5432A>C (p.Lys1811Thr)
n.159A>C
c.4484A>C (p.Lys1495Thr)
c.5660A>C (p.Lys1887Thr)
c.5549A>C (p.Lys1850Thr)
c.5471A>C (p.Lys1824Thr)
c.5123A>C (p.Lys1708Thr)
c.4748A>C (p.Lys1583Thr)
c.5555A>C (p.Lys1852Thr)
c.5657A>C (p.Lys1886Thr)
c.5600A>C (p.Lys1867Thr)
c.5576A>C (p.Lys1859Thr)
c.5531A>C (p.Lys1844Thr)
3g.53801422A>GCA353251931CACNA1Dc.5465A>G (p.Lys1822Arg)
n.2404A>G
n.840A>G
c.5405A>G (p.Lys1802Arg)
c.5360A>G (p.Lys1787Arg)
c.1526A>G
n.761A>G
n.832A>G
c.5432A>G (p.Lys1811Arg)
n.159A>G
c.4484A>G (p.Lys1495Arg)
c.5660A>G (p.Lys1887Arg)
c.5549A>G (p.Lys1850Arg)
c.5471A>G (p.Lys1824Arg)
c.5123A>G (p.Lys1708Arg)
c.4748A>G (p.Lys1583Arg)
c.5555A>G (p.Lys1852Arg)
c.5657A>G (p.Lys1886Arg)
c.5600A>G (p.Lys1867Arg)
c.5576A>G (p.Lys1859Arg)
c.5531A>G (p.Lys1844Arg)
3g.53801422A>TCA353251932CACNA1Dc.5465A>T (p.Lys1822Ile)
n.2404A>T
n.840A>T
c.5405A>T (p.Lys1802Ile)
c.5360A>T (p.Lys1787Ile)
c.1526A>T
n.761A>T
n.832A>T
c.5432A>T (p.Lys1811Ile)
n.159A>T
c.4484A>T (p.Lys1495Ile)
c.5660A>T (p.Lys1887Ile)
c.5549A>T (p.Lys1850Ile)
c.5471A>T (p.Lys1824Ile)
c.5123A>T (p.Lys1708Ile)
c.4748A>T (p.Lys1583Ile)
c.5555A>T (p.Lys1852Ile)
c.5657A>T (p.Lys1886Ile)
c.5600A>T (p.Lys1867Ile)
c.5576A>T (p.Lys1859Ile)
c.5531A>T (p.Lys1844Ile)
3g.53801423A>CCA353251933CACNA1Dc.5466A>C (p.Lys1822Asn)
n.2405A>C
n.841A>C
c.5406A>C (p.Lys1802Asn)
c.5361A>C (p.Lys1787Asn)
c.1527A>C
n.762A>C
n.833A>C
c.5433A>C (p.Lys1811Asn)
n.160A>C
c.4485A>C (p.Lys1495Asn)
c.5661A>C (p.Lys1887Asn)
c.5550A>C (p.Lys1850Asn)
c.5472A>C (p.Lys1824Asn)
c.5124A>C (p.Lys1708Asn)
c.4749A>C (p.Lys1583Asn)
c.5556A>C (p.Lys1852Asn)
c.5658A>C (p.Lys1886Asn)
c.5601A>C (p.Lys1867Asn)
c.5577A>C (p.Lys1859Asn)
c.5532A>C (p.Lys1844Asn)
3g.53801423A>GCA433804163CACNA1Dc.5466A>G (p.Lys1822=)
n.2405A>G
n.841A>G
c.5406A>G (p.Lys1802=)
c.5361A>G (p.Lys1787=)
c.1527A>G
n.762A>G
n.833A>G
c.5433A>G (p.Lys1811=)
n.160A>G
c.4485A>G (p.Lys1495=)
c.5661A>G (p.Lys1887=)
c.5550A>G (p.Lys1850=)
c.5472A>G (p.Lys1824=)
c.5124A>G (p.Lys1708=)
c.4749A>G (p.Lys1583=)
c.5556A>G (p.Lys1852=)
c.5658A>G (p.Lys1886=)
c.5601A>G (p.Lys1867=)
c.5577A>G (p.Lys1859=)
c.5532A>G (p.Lys1844=)
3g.53801423A>TCA353251935CACNA1Dc.5466A>T (p.Lys1822Asn)
n.2405A>T
n.841A>T
c.5406A>T (p.Lys1802Asn)
c.5361A>T (p.Lys1787Asn)
c.1527A>T
n.762A>T
n.833A>T
c.5433A>T (p.Lys1811Asn)
n.160A>T
c.4485A>T (p.Lys1495Asn)
c.5661A>T (p.Lys1887Asn)
c.5550A>T (p.Lys1850Asn)
c.5472A>T (p.Lys1824Asn)
c.5124A>T (p.Lys1708Asn)
c.4749A>T (p.Lys1583Asn)
c.5556A>T (p.Lys1852Asn)
c.5658A>T (p.Lys1886Asn)
c.5601A>T (p.Lys1867Asn)
c.5577A>T (p.Lys1859Asn)
c.5532A>T (p.Lys1844Asn)
3g.53801424A>CCA433804164CACNA1Dc.5467A>C (p.Arg1823=)
n.2406A>C
n.842A>C
c.5407A>C (p.Arg1803=)
c.5362A>C (p.Arg1788=)
c.1528A>C
n.763A>C
n.834A>C
c.5434A>C (p.Arg1812=)
n.161A>C
c.4486A>C (p.Arg1496=)
c.5662A>C (p.Arg1888=)
c.5551A>C (p.Arg1851=)
c.5473A>C (p.Arg1825=)
c.5125A>C (p.Arg1709=)
c.4750A>C (p.Arg1584=)
c.5557A>C (p.Arg1853=)
c.5659A>C (p.Arg1887=)
c.5602A>C (p.Arg1868=)
c.5578A>C (p.Arg1860=)
c.5533A>C (p.Arg1845=)
3g.53801424A>GCA353251940CACNA1Dc.5467A>G (p.Arg1823Gly)
n.2406A>G
n.842A>G
c.5407A>G (p.Arg1803Gly)
c.5362A>G (p.Arg1788Gly)
c.1528A>G
n.763A>G
n.834A>G
c.5434A>G (p.Arg1812Gly)
n.161A>G
c.4486A>G (p.Arg1496Gly)
c.5662A>G (p.Arg1888Gly)
c.5551A>G (p.Arg1851Gly)
c.5473A>G (p.Arg1825Gly)
c.5125A>G (p.Arg1709Gly)
c.4750A>G (p.Arg1584Gly)
c.5557A>G (p.Arg1853Gly)
c.5659A>G (p.Arg1887Gly)
c.5602A>G (p.Arg1868Gly)
c.5578A>G (p.Arg1860Gly)
c.5533A>G (p.Arg1845Gly)
3g.53801424A>TCA353251942CACNA1Dc.5467A>T (p.Arg1823Ter)
n.2406A>T
n.842A>T
c.5407A>T (p.Arg1803Ter)
c.5362A>T (p.Arg1788Trp)
c.1528A>T
c.5362A>T (p.Arg1788Ter)
n.763A>T
n.834A>T
c.5434A>T (p.Arg1812Ter)
n.161A>T
c.4486A>T (p.Arg1496Ter)
c.5662A>T (p.Arg1888Ter)
c.5551A>T (p.Arg1851Ter)
c.5473A>T (p.Arg1825Ter)
c.5125A>T (p.Arg1709Ter)
c.4750A>T (p.Arg1584Ter)
c.5557A>T (p.Arg1853Ter)
c.5659A>T (p.Arg1887Ter)
c.5662A>T (p.Arg1888Trp)
c.5602A>T (p.Arg1868Ter)
c.5578A>T (p.Arg1860Ter)
c.5533A>T (p.Arg1845Ter)
3g.53801425G>ACA353251944CACNA1Dc.5468G>A (p.Arg1823Lys)
n.2407G>A
n.843G>A
c.5408G>A (p.Arg1803Lys)
c.5363G>A (p.Arg1788Lys)
c.1529G>A
n.764G>A
n.835G>A
c.5435G>A (p.Arg1812Lys)
n.162G>A
c.4487G>A (p.Arg1496Lys)
c.5663G>A (p.Arg1888Lys)
c.5552G>A (p.Arg1851Lys)
c.5474G>A (p.Arg1825Lys)
c.5126G>A (p.Arg1709Lys)
c.4751G>A (p.Arg1584Lys)
c.5558G>A (p.Arg1853Lys)
c.5660G>A (p.Arg1887Lys)
c.5603G>A (p.Arg1868Lys)
c.5579G>A (p.Arg1860Lys)
c.5534G>A (p.Arg1845Lys)
3g.53801425G>CCA353251952CACNA1Dc.5468G>C (p.Arg1823Thr)
n.2407G>C
n.843G>C
c.5408G>C (p.Arg1803Thr)
c.5363G>C (p.Arg1788Thr)
c.1529G>C
n.764G>C
n.835G>C
c.5435G>C (p.Arg1812Thr)
n.162G>C
c.4487G>C (p.Arg1496Thr)
c.5663G>C (p.Arg1888Thr)
c.5552G>C (p.Arg1851Thr)
c.5474G>C (p.Arg1825Thr)
c.5126G>C (p.Arg1709Thr)
c.4751G>C (p.Arg1584Thr)
c.5558G>C (p.Arg1853Thr)
c.5660G>C (p.Arg1887Thr)
c.5603G>C (p.Arg1868Thr)
c.5579G>C (p.Arg1860Thr)
c.5534G>C (p.Arg1845Thr)
 ClinVar dbSNP
3g.53801425G>TCA353251951CACNA1Dc.5468G>T (p.Arg1823Ile)
n.2407G>T
n.843G>T
c.5408G>T (p.Arg1803Ile)
c.5363G>T (p.Arg1788Met)
c.1529G>T
c.5363G>T (p.Arg1788Ile)
n.764G>T
n.835G>T
c.5435G>T (p.Arg1812Ile)
n.162G>T
c.4487G>T (p.Arg1496Ile)
c.5663G>T (p.Arg1888Ile)
c.5552G>T (p.Arg1851Ile)
c.5474G>T (p.Arg1825Ile)
c.5126G>T (p.Arg1709Ile)
c.4751G>T (p.Arg1584Ile)
c.5558G>T (p.Arg1853Ile)
c.5660G>T (p.Arg1887Ile)
c.5663G>T (p.Arg1888Met)
c.5603G>T (p.Arg1868Ile)
c.5579G>T (p.Arg1860Ile)
c.5534G>T (p.Arg1845Ile)
3g.53801426G>ACA353251955CACNA1Dc.5468+1G>A (n.5468+1G>A)
n.2407+1G>A
n.843+1G>A
c.5408+1G>A (n.5408+1G>A)
c.5363+1G>A (n.5363+1G>A)
c.1529+1G>A
n.764+1G>A
n.835+1G>A
c.5435+1G>A (n.5435+1G>A)
n.162+1G>A
c.4487+1G>A (n.4487+1G>A)
c.5663+1G>A (n.5663+1G>A)
c.5552+1G>A (n.5552+1G>A)
c.5474+1G>A (n.5474+1G>A)
c.5126+1G>A (n.5126+1G>A)
c.4751+1G>A (n.4751+1G>A)
c.5558+1G>A (n.5558+1G>A)
c.5660+1G>A (n.5660+1G>A)
c.5603+1G>A (n.5603+1G>A)
c.5579+1G>A (n.5579+1G>A)
c.5534+1G>A (n.5534+1G>A)
3g.53801426G>CCA353251958CACNA1Dc.5468+1G>C (n.5468+1G>C)
n.2407+1G>C
n.843+1G>C
c.5408+1G>C (n.5408+1G>C)
c.5363+1G>C (n.5363+1G>C)
c.1529+1G>C
n.764+1G>C
n.835+1G>C
c.5435+1G>C (n.5435+1G>C)
n.162+1G>C
c.4487+1G>C (n.4487+1G>C)
c.5663+1G>C (n.5663+1G>C)
c.5552+1G>C (n.5552+1G>C)
c.5474+1G>C (n.5474+1G>C)
c.5126+1G>C (n.5126+1G>C)
c.4751+1G>C (n.4751+1G>C)
c.5558+1G>C (n.5558+1G>C)
c.5660+1G>C (n.5660+1G>C)
c.5603+1G>C (n.5603+1G>C)
c.5579+1G>C (n.5579+1G>C)
c.5534+1G>C (n.5534+1G>C)
3g.53801426G>TCA353251961CACNA1Dc.5468+1G>T (n.5468+1G>T)
n.2407+1G>T
n.843+1G>T
c.5408+1G>T (n.5408+1G>T)
c.5363+1G>T (n.5363+1G>T)
c.1529+1G>T
n.764+1G>T
n.835+1G>T
c.5435+1G>T (n.5435+1G>T)
n.162+1G>T
c.4487+1G>T (n.4487+1G>T)
c.5663+1G>T (n.5663+1G>T)
c.5552+1G>T (n.5552+1G>T)
c.5474+1G>T (n.5474+1G>T)
c.5126+1G>T (n.5126+1G>T)
c.4751+1G>T (n.4751+1G>T)
c.5558+1G>T (n.5558+1G>T)
c.5660+1G>T (n.5660+1G>T)
c.5603+1G>T (n.5603+1G>T)
c.5579+1G>T (n.5579+1G>T)
c.5534+1G>T (n.5534+1G>T)
3g.53801427T>ACA353251965CACNA1Dc.5468+2T>A (n.5468+2T>A)
n.2407+2T>A
n.843+2T>A
c.5408+2T>A (n.5408+2T>A)
c.5363+2T>A (n.5363+2T>A)
c.1529+2T>A
n.764+2T>A
n.835+2T>A
c.5435+2T>A (n.5435+2T>A)
n.162+2T>A
c.4487+2T>A (n.4487+2T>A)
c.5663+2T>A (n.5663+2T>A)
c.5552+2T>A (n.5552+2T>A)
c.5474+2T>A (n.5474+2T>A)
c.5126+2T>A (n.5126+2T>A)
c.4751+2T>A (n.4751+2T>A)
c.5558+2T>A (n.5558+2T>A)
c.5660+2T>A (n.5660+2T>A)
c.5603+2T>A (n.5603+2T>A)
c.5579+2T>A (n.5579+2T>A)
c.5534+2T>A (n.5534+2T>A)
3g.53801427T>CCA353251968CACNA1Dc.5468+2T>C (n.5468+2T>C)
n.2407+2T>C
n.843+2T>C
c.5408+2T>C (n.5408+2T>C)
c.5363+2T>C (n.5363+2T>C)
c.1529+2T>C
n.764+2T>C
n.835+2T>C
c.5435+2T>C (n.5435+2T>C)
n.162+2T>C
c.4487+2T>C (n.4487+2T>C)
c.5663+2T>C (n.5663+2T>C)
c.5552+2T>C (n.5552+2T>C)
c.5474+2T>C (n.5474+2T>C)
c.5126+2T>C (n.5126+2T>C)
c.4751+2T>C (n.4751+2T>C)
c.5558+2T>C (n.5558+2T>C)
c.5660+2T>C (n.5660+2T>C)
c.5603+2T>C (n.5603+2T>C)
c.5579+2T>C (n.5579+2T>C)
c.5534+2T>C (n.5534+2T>C)
3g.53801427T>GCA353251974CACNA1Dc.5468+2T>G (n.5468+2T>G)
n.2407+2T>G
n.843+2T>G
c.5408+2T>G (n.5408+2T>G)
c.5363+2T>G (n.5363+2T>G)
c.1529+2T>G
n.764+2T>G
n.835+2T>G
c.5435+2T>G (n.5435+2T>G)
n.162+2T>G
c.4487+2T>G (n.4487+2T>G)
c.5663+2T>G (n.5663+2T>G)
c.5552+2T>G (n.5552+2T>G)
c.5474+2T>G (n.5474+2T>G)
c.5126+2T>G (n.5126+2T>G)
c.4751+2T>G (n.4751+2T>G)
c.5558+2T>G (n.5558+2T>G)
c.5660+2T>G (n.5660+2T>G)
c.5603+2T>G (n.5603+2T>G)
c.5579+2T>G (n.5579+2T>G)
c.5534+2T>G (n.5534+2T>G)
3g.53801427_53801428delinsTACA1365484238CACNA1Dc.5468+2_5468+3delinsTA (n.5468+2_5468+3delinsTA)
n.2407+2_2407+3delinsTA
n.843+2_843+3delinsTA
c.5408+2_5408+3delinsTA (n.5408+2_5408+3delinsTA)
c.5363+2_5363+3delinsTA (n.5363+2_5363+3delinsTA)
c.1529+2_1529+3delinsTA
n.764+2_764+3delinsTA
n.835+2_835+3delinsTA
c.5435+2_5435+3delinsTA (n.5435+2_5435+3delinsTA)
n.162+2_162+3delinsTA
c.4487+2_4487+3delinsTA (n.4487+2_4487+3delinsTA)
c.5663+2_5663+3delinsTA (n.5663+2_5663+3delinsTA)
c.5552+2_5552+3delinsTA (n.5552+2_5552+3delinsTA)
c.5474+2_5474+3delinsTA (n.5474+2_5474+3delinsTA)
c.5126+2_5126+3delinsTA (n.5126+2_5126+3delinsTA)
c.4751+2_4751+3delinsTA (n.4751+2_4751+3delinsTA)
c.5558+2_5558+3delinsTA (n.5558+2_5558+3delinsTA)
c.5660+2_5660+3delinsTA (n.5660+2_5660+3delinsTA)
c.5603+2_5603+3delinsTA (n.5603+2_5603+3delinsTA)
c.5579+2_5579+3delinsTA (n.5579+2_5579+3delinsTA)
c.5534+2_5534+3delinsTA (n.5534+2_5534+3delinsTA)
3g.53801429delCA658796338CACNA1Dc.5468+4del (n.5468+4del)
n.2407+4del
n.843+4del
c.5408+4del (n.5408+4del)
c.5363+4del (n.5363+4del)
c.1529+4del
n.764+4del
n.835+4del
c.5435+4del (n.5435+4del)
n.162+4del
c.4487+4del (n.4487+4del)
c.5663+4del (n.5663+4del)
c.5552+4del (n.5552+4del)
c.5474+4del (n.5474+4del)
c.5126+4del (n.5126+4del)
c.4751+4del (n.4751+4del)
c.5558+4del (n.5558+4del)
c.5660+4del (n.5660+4del)
c.5603+4del (n.5603+4del)
c.5579+4del (n.5579+4del)
c.5534+4del (n.5534+4del)
 ClinVar dbSNP
3g.53801430C>ACA2666139601CACNA1Dc.5468+5C>A (n.5468+5C>A)
n.2407+5C>A
n.843+5C>A
c.5408+5C>A (n.5408+5C>A)
c.5363+5C>A (n.5363+5C>A)
c.1529+5C>A
n.764+5C>A
n.835+5C>A
c.5435+5C>A (n.5435+5C>A)
n.162+5C>A
c.4487+5C>A (n.4487+5C>A)
c.5663+5C>A (n.5663+5C>A)
c.5552+5C>A (n.5552+5C>A)
c.5474+5C>A (n.5474+5C>A)
c.5126+5C>A (n.5126+5C>A)
c.4751+5C>A (n.4751+5C>A)
c.5558+5C>A (n.5558+5C>A)
c.5660+5C>A (n.5660+5C>A)
c.5603+5C>A (n.5603+5C>A)
c.5579+5C>A (n.5579+5C>A)
c.5534+5C>A (n.5534+5C>A)
 gnomAD v4
3g.53801431dupCA2580070276CACNA1Dc.5468+6dup (n.5468+6dup)
n.2407+6dup
n.843+6dup
c.5408+6dup (n.5408+6dup)
c.5363+6dup (n.5363+6dup)
c.1529+6dup
n.764+6dup
n.835+6dup
c.5435+6dup (n.5435+6dup)
n.162+6dup
c.4487+6dup (n.4487+6dup)
c.5663+6dup (n.5663+6dup)
c.5552+6dup (n.5552+6dup)
c.5474+6dup (n.5474+6dup)
c.5126+6dup (n.5126+6dup)
c.4751+6dup (n.4751+6dup)
c.5558+6dup (n.5558+6dup)
c.5660+6dup (n.5660+6dup)
c.5603+6dup (n.5603+6dup)
c.5579+6dup (n.5579+6dup)
c.5534+6dup (n.5534+6dup)
 ClinVar
3g.53801431C=CA1365484240CACNA1Dc.5468+6C= (n.5468+6C=)
n.2407+6C=
n.843+6C=
c.5408+6C= (n.5408+6C=)
c.5363+6C= (n.5363+6C=)
c.1529+6C=
n.764+6C=
n.835+6C=
c.5435+6C= (n.5435+6C=)
n.162+6C=
c.4487+6C= (n.4487+6C=)
c.5663+6C= (n.5663+6C=)
c.5552+6C= (n.5552+6C=)
c.5474+6C= (n.5474+6C=)
c.5126+6C= (n.5126+6C=)
c.4751+6C= (n.4751+6C=)
c.5558+6C= (n.5558+6C=)
c.5660+6C= (n.5660+6C=)
c.5603+6C= (n.5603+6C=)
c.5579+6C= (n.5579+6C=)
c.5534+6C= (n.5534+6C=)
3g.53801431C>TCA543193896CACNA1Dc.5468+6C>T (n.5468+6C>T)
n.2407+6C>T
n.843+6C>T
c.5408+6C>T (n.5408+6C>T)
c.5363+6C>T (n.5363+6C>T)
c.1529+6C>T
n.764+6C>T
n.835+6C>T
c.5435+6C>T (n.5435+6C>T)
n.162+6C>T
c.4487+6C>T (n.4487+6C>T)
c.5663+6C>T (n.5663+6C>T)
c.5552+6C>T (n.5552+6C>T)
c.5474+6C>T (n.5474+6C>T)
c.5126+6C>T (n.5126+6C>T)
c.4751+6C>T (n.4751+6C>T)
c.5558+6C>T (n.5558+6C>T)
c.5660+6C>T (n.5660+6C>T)
c.5603+6C>T (n.5603+6C>T)
c.5579+6C>T (n.5579+6C>T)
c.5534+6C>T (n.5534+6C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.53801431_53801432delinsCTCA1365484239CACNA1Dc.5468+6_5468+7delinsCT (n.5468+6_5468+7delinsCT)
n.2407+6_2407+7delinsCT
n.843+6_843+7delinsCT
c.5408+6_5408+7delinsCT (n.5408+6_5408+7delinsCT)
c.5363+6_5363+7delinsCT (n.5363+6_5363+7delinsCT)
c.1529+6_1529+7delinsCT
n.764+6_764+7delinsCT
n.835+6_835+7delinsCT
c.5435+6_5435+7delinsCT (n.5435+6_5435+7delinsCT)
n.162+6_162+7delinsCT
c.4487+6_4487+7delinsCT (n.4487+6_4487+7delinsCT)
c.5663+6_5663+7delinsCT (n.5663+6_5663+7delinsCT)
c.5552+6_5552+7delinsCT (n.5552+6_5552+7delinsCT)
c.5474+6_5474+7delinsCT (n.5474+6_5474+7delinsCT)
c.5126+6_5126+7delinsCT (n.5126+6_5126+7delinsCT)
c.4751+6_4751+7delinsCT (n.4751+6_4751+7delinsCT)
c.5558+6_5558+7delinsCT (n.5558+6_5558+7delinsCT)
c.5660+6_5660+7delinsCT (n.5660+6_5660+7delinsCT)
c.5603+6_5603+7delinsCT (n.5603+6_5603+7delinsCT)
c.5579+6_5579+7delinsCT (n.5579+6_5579+7delinsCT)
c.5534+6_5534+7delinsCT (n.5534+6_5534+7delinsCT)
3g.53801433delCA2455113CACNA1Dc.5468+8del (n.5468+8del)
n.2407+8del
n.843+8del
c.5408+8del (n.5408+8del)
c.5363+8del (n.5363+8del)
c.1529+8del
n.764+8del
n.835+8del
c.5435+8del (n.5435+8del)
n.162+8del
c.4487+8del (n.4487+8del)
c.5663+8del (n.5663+8del)
c.5552+8del (n.5552+8del)
c.5474+8del (n.5474+8del)
c.5126+8del (n.5126+8del)
c.4751+8del (n.4751+8del)
c.5558+8del (n.5558+8del)
c.5660+8del (n.5660+8del)
c.5603+8del (n.5603+8del)
c.5579+8del (n.5579+8del)
c.5534+8del (n.5534+8del)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.53801433T>GCA1048074889CACNA1Dc.5468+8T>G (n.5468+8T>G)
n.2407+8T>G
n.843+8T>G
c.5408+8T>G (n.5408+8T>G)
c.5363+8T>G (n.5363+8T>G)
c.1529+8T>G
n.764+8T>G
n.835+8T>G
c.5435+8T>G (n.5435+8T>G)
n.162+8T>G
c.4487+8T>G (n.4487+8T>G)
c.5663+8T>G (n.5663+8T>G)
c.5552+8T>G (n.5552+8T>G)
c.5474+8T>G (n.5474+8T>G)
c.5126+8T>G (n.5126+8T>G)
c.4751+8T>G (n.4751+8T>G)
c.5558+8T>G (n.5558+8T>G)
c.5660+8T>G (n.5660+8T>G)
c.5603+8T>G (n.5603+8T>G)
c.5579+8T>G (n.5579+8T>G)
c.5534+8T>G (n.5534+8T>G)
 dbSNP gnomAD v3 gnomAD v4
3g.53801433T=CA1365484241CACNA1Dc.5468+8T= (n.5468+8T=)
n.2407+8T=
n.843+8T=
c.5408+8T= (n.5408+8T=)
c.5363+8T= (n.5363+8T=)
c.1529+8T=
n.764+8T=
n.835+8T=
c.5435+8T= (n.5435+8T=)
n.162+8T=
c.4487+8T= (n.4487+8T=)
c.5663+8T= (n.5663+8T=)
c.5552+8T= (n.5552+8T=)
c.5474+8T= (n.5474+8T=)
c.5126+8T= (n.5126+8T=)
c.4751+8T= (n.4751+8T=)
c.5558+8T= (n.5558+8T=)
c.5660+8T= (n.5660+8T=)
c.5603+8T= (n.5603+8T=)
c.5579+8T= (n.5579+8T=)
c.5534+8T= (n.5534+8T=)
3g.53801434G>ACA2455114CACNA1Dc.5468+9G>A (n.5468+9G>A)
n.2407+9G>A
n.843+9G>A
c.5408+9G>A (n.5408+9G>A)
c.5363+9G>A (n.5363+9G>A)
c.1529+9G>A
n.764+9G>A
n.835+9G>A
c.5435+9G>A (n.5435+9G>A)
n.162+9G>A
c.4487+9G>A (n.4487+9G>A)
c.5663+9G>A (n.5663+9G>A)
c.5552+9G>A (n.5552+9G>A)
c.5474+9G>A (n.5474+9G>A)
c.5126+9G>A (n.5126+9G>A)
c.4751+9G>A (n.4751+9G>A)
c.5558+9G>A (n.5558+9G>A)
c.5660+9G>A (n.5660+9G>A)
c.5603+9G>A (n.5603+9G>A)
c.5579+9G>A (n.5579+9G>A)
c.5534+9G>A (n.5534+9G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.53801434G>CCA2666139602CACNA1Dc.5468+9G>C (n.5468+9G>C)
n.2407+9G>C
n.843+9G>C
c.5408+9G>C (n.5408+9G>C)
c.5363+9G>C (n.5363+9G>C)
c.1529+9G>C
n.764+9G>C
n.835+9G>C
c.5435+9G>C (n.5435+9G>C)
n.162+9G>C
c.4487+9G>C (n.4487+9G>C)
c.5663+9G>C (n.5663+9G>C)
c.5552+9G>C (n.5552+9G>C)
c.5474+9G>C (n.5474+9G>C)
c.5126+9G>C (n.5126+9G>C)
c.4751+9G>C (n.4751+9G>C)
c.5558+9G>C (n.5558+9G>C)
c.5660+9G>C (n.5660+9G>C)
c.5603+9G>C (n.5603+9G>C)
c.5579+9G>C (n.5579+9G>C)
c.5534+9G>C (n.5534+9G>C)
 gnomAD v4
3g.53801434G=CA1365484242CACNA1Dc.5468+9G= (n.5468+9G=)
n.2407+9G=
n.843+9G=
c.5408+9G= (n.5408+9G=)
c.5363+9G= (n.5363+9G=)
c.1529+9G=
n.764+9G=
n.835+9G=
c.5435+9G= (n.5435+9G=)
n.162+9G=
c.4487+9G= (n.4487+9G=)
c.5663+9G= (n.5663+9G=)
c.5552+9G= (n.5552+9G=)
c.5474+9G= (n.5474+9G=)
c.5126+9G= (n.5126+9G=)
c.4751+9G= (n.4751+9G=)
c.5558+9G= (n.5558+9G=)
c.5660+9G= (n.5660+9G=)
c.5603+9G= (n.5603+9G=)
c.5579+9G= (n.5579+9G=)
c.5534+9G= (n.5534+9G=)
3g.53801438A=CA1365484243CACNA1Dc.5468+13A= (n.5468+13A=)
n.2407+13A=
n.843+13A=
c.5408+13A= (n.5408+13A=)
c.5363+13A= (n.5363+13A=)
c.1529+13A=
n.764+13A=
n.835+13A=
c.5435+13A= (n.5435+13A=)
n.162+13A=
c.4487+13A= (n.4487+13A=)
c.5663+13A= (n.5663+13A=)
c.5552+13A= (n.5552+13A=)
c.5474+13A= (n.5474+13A=)
c.5126+13A= (n.5126+13A=)
c.4751+13A= (n.4751+13A=)
c.5558+13A= (n.5558+13A=)
c.5660+13A= (n.5660+13A=)
c.5603+13A= (n.5603+13A=)
c.5579+13A= (n.5579+13A=)
c.5534+13A= (n.5534+13A=)
3g.53801438A>GCA74860031CACNA1Dc.5468+13A>G (n.5468+13A>G)
n.2407+13A>G
n.843+13A>G
c.5408+13A>G (n.5408+13A>G)
c.5363+13A>G (n.5363+13A>G)
c.1529+13A>G
n.764+13A>G
n.835+13A>G
c.5435+13A>G (n.5435+13A>G)
n.162+13A>G
c.4487+13A>G (n.4487+13A>G)
c.5663+13A>G (n.5663+13A>G)
c.5552+13A>G (n.5552+13A>G)
c.5474+13A>G (n.5474+13A>G)
c.5126+13A>G (n.5126+13A>G)
c.4751+13A>G (n.4751+13A>G)
c.5558+13A>G (n.5558+13A>G)
c.5660+13A>G (n.5660+13A>G)
c.5603+13A>G (n.5603+13A>G)
c.5579+13A>G (n.5579+13A>G)
c.5534+13A>G (n.5534+13A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.53801439T>CCA647893535CACNA1Dc.5468+14T>C (n.5468+14T>C)
n.2407+14T>C
n.843+14T>C
c.5408+14T>C (n.5408+14T>C)
c.5363+14T>C (n.5363+14T>C)
c.1529+14T>C
n.764+14T>C
n.835+14T>C
c.5435+14T>C (n.5435+14T>C)
n.162+14T>C
c.4487+14T>C (n.4487+14T>C)
c.5663+14T>C (n.5663+14T>C)
c.5552+14T>C (n.5552+14T>C)
c.5474+14T>C (n.5474+14T>C)
c.5126+14T>C (n.5126+14T>C)
c.4751+14T>C (n.4751+14T>C)
c.5558+14T>C (n.5558+14T>C)
c.5660+14T>C (n.5660+14T>C)
c.5603+14T>C (n.5603+14T>C)
c.5579+14T>C (n.5579+14T>C)
c.5534+14T>C (n.5534+14T>C)
 ClinVar dbSNP gnomAD v4 COSMIC
3g.53801439T=CA1365484244CACNA1Dc.5468+14T= (n.5468+14T=)
n.2407+14T=
n.843+14T=
c.5408+14T= (n.5408+14T=)
c.5363+14T= (n.5363+14T=)
c.1529+14T=
n.764+14T=
n.835+14T=
c.5435+14T= (n.5435+14T=)
n.162+14T=
c.4487+14T= (n.4487+14T=)
c.5663+14T= (n.5663+14T=)
c.5552+14T= (n.5552+14T=)
c.5474+14T= (n.5474+14T=)
c.5126+14T= (n.5126+14T=)
c.4751+14T= (n.4751+14T=)
c.5558+14T= (n.5558+14T=)
c.5660+14T= (n.5660+14T=)
c.5603+14T= (n.5603+14T=)
c.5579+14T= (n.5579+14T=)
c.5534+14T= (n.5534+14T=)
3g.53801440G>TCA2666139603CACNA1Dc.5468+15G>T (n.5468+15G>T)
n.2407+15G>T
n.843+15G>T
c.5408+15G>T (n.5408+15G>T)
c.5363+15G>T (n.5363+15G>T)
c.1529+15G>T
n.764+15G>T
n.835+15G>T
c.5435+15G>T (n.5435+15G>T)
n.162+15G>T
c.4487+15G>T (n.4487+15G>T)
c.5663+15G>T (n.5663+15G>T)
c.5552+15G>T (n.5552+15G>T)
c.5474+15G>T (n.5474+15G>T)
c.5126+15G>T (n.5126+15G>T)
c.4751+15G>T (n.4751+15G>T)
c.5558+15G>T (n.5558+15G>T)
c.5660+15G>T (n.5660+15G>T)
c.5603+15G>T (n.5603+15G>T)
c.5579+15G>T (n.5579+15G>T)
c.5534+15G>T (n.5534+15G>T)
 gnomAD v4
3g.53801441T>CCA2666139604CACNA1Dc.5468+16T>C (n.5468+16T>C)
n.2407+16T>C
n.843+16T>C
c.5408+16T>C (n.5408+16T>C)
c.5363+16T>C (n.5363+16T>C)
c.1529+16T>C
n.764+16T>C
n.835+16T>C
c.5435+16T>C (n.5435+16T>C)
n.162+16T>C
c.4487+16T>C (n.4487+16T>C)
c.5663+16T>C (n.5663+16T>C)
c.5552+16T>C (n.5552+16T>C)
c.5474+16T>C (n.5474+16T>C)
c.5126+16T>C (n.5126+16T>C)
c.4751+16T>C (n.4751+16T>C)
c.5558+16T>C (n.5558+16T>C)
c.5660+16T>C (n.5660+16T>C)
c.5603+16T>C (n.5603+16T>C)
c.5579+16T>C (n.5579+16T>C)
c.5534+16T>C (n.5534+16T>C)
 gnomAD v4

Number of alleles fetched