Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.53801272C>ACA2455091CACNA1Dc.5315C>A (p.Thr1772Asn)
n.2254C>A
n.690C>A
c.5255C>A (p.Thr1752Asn)
c.5210C>A (p.Thr1737Asn)
c.1376C>A
n.611C>A
n.682C>A
c.5282C>A (p.Thr1761Asn)
n.9C>A
c.4334C>A (p.Thr1445Asn)
c.5510C>A (p.Thr1837Asn)
c.5399C>A (p.Thr1800Asn)
c.5321C>A (p.Thr1774Asn)
c.4973C>A (p.Thr1658Asn)
c.4598C>A (p.Thr1533Asn)
c.5405C>A (p.Thr1802Asn)
c.5507C>A (p.Thr1836Asn)
c.5450C>A (p.Thr1817Asn)
c.5426C>A (p.Thr1809Asn)
c.5381C>A (p.Thr1794Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.53801272C=CA1365484182CACNA1Dc.5315C= (p.Thr1772=)
n.2254C=
n.690C=
c.5255C= (p.Thr1752=)
c.5210C= (p.Thr1737=)
c.1376C=
n.611C=
n.682C=
c.5282C= (p.Thr1761=)
n.9C=
c.4334C= (p.Thr1445=)
c.5510C= (p.Thr1837=)
c.5399C= (p.Thr1800=)
c.5321C= (p.Thr1774=)
c.4973C= (p.Thr1658=)
c.4598C= (p.Thr1533=)
c.5405C= (p.Thr1802=)
c.5507C= (p.Thr1836=)
c.5450C= (p.Thr1817=)
c.5426C= (p.Thr1809=)
c.5381C= (p.Thr1794=)
3g.53801272C>GCA353250812CACNA1Dc.5315C>G (p.Thr1772Ser)
n.2254C>G
n.690C>G
c.5255C>G (p.Thr1752Ser)
c.5210C>G (p.Thr1737Ser)
c.1376C>G
n.611C>G
n.682C>G
c.5282C>G (p.Thr1761Ser)
n.9C>G
c.4334C>G (p.Thr1445Ser)
c.5510C>G (p.Thr1837Ser)
c.5399C>G (p.Thr1800Ser)
c.5321C>G (p.Thr1774Ser)
c.4973C>G (p.Thr1658Ser)
c.4598C>G (p.Thr1533Ser)
c.5405C>G (p.Thr1802Ser)
c.5507C>G (p.Thr1836Ser)
c.5450C>G (p.Thr1817Ser)
c.5426C>G (p.Thr1809Ser)
c.5381C>G (p.Thr1794Ser)
3g.53801272C>TCA2455090CACNA1Dc.5315C>T (p.Thr1772Ile)
n.2254C>T
n.690C>T
c.5255C>T (p.Thr1752Ile)
c.5210C>T (p.Thr1737Ile)
c.1376C>T
n.611C>T
n.682C>T
c.5282C>T (p.Thr1761Ile)
n.9C>T
c.4334C>T (p.Thr1445Ile)
c.5510C>T (p.Thr1837Ile)
c.5399C>T (p.Thr1800Ile)
c.5321C>T (p.Thr1774Ile)
c.4973C>T (p.Thr1658Ile)
c.4598C>T (p.Thr1533Ile)
c.5405C>T (p.Thr1802Ile)
c.5507C>T (p.Thr1836Ile)
c.5450C>T (p.Thr1817Ile)
c.5426C>T (p.Thr1809Ile)
c.5381C>T (p.Thr1794Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.53801273C>ACA433896148CACNA1Dc.5316C>A (p.Thr1772=)
n.2255C>A
n.691C>A
c.5256C>A (p.Thr1752=)
c.5211C>A (p.Thr1737=)
c.1377C>A
n.612C>A
n.683C>A
c.5283C>A (p.Thr1761=)
n.10C>A
c.4335C>A (p.Thr1445=)
c.5511C>A (p.Thr1837=)
c.5400C>A (p.Thr1800=)
c.5322C>A (p.Thr1774=)
c.4974C>A (p.Thr1658=)
c.4599C>A (p.Thr1533=)
c.5406C>A (p.Thr1802=)
c.5508C>A (p.Thr1836=)
c.5451C>A (p.Thr1817=)
c.5427C>A (p.Thr1809=)
c.5382C>A (p.Thr1794=)
3g.53801273C>GCA433896149CACNA1Dc.5316C>G (p.Thr1772=)
n.2255C>G
n.691C>G
c.5256C>G (p.Thr1752=)
c.5211C>G (p.Thr1737=)
c.1377C>G
n.612C>G
n.683C>G
c.5283C>G (p.Thr1761=)
n.10C>G
c.4335C>G (p.Thr1445=)
c.5511C>G (p.Thr1837=)
c.5400C>G (p.Thr1800=)
c.5322C>G (p.Thr1774=)
c.4974C>G (p.Thr1658=)
c.4599C>G (p.Thr1533=)
c.5406C>G (p.Thr1802=)
c.5508C>G (p.Thr1836=)
c.5451C>G (p.Thr1817=)
c.5427C>G (p.Thr1809=)
c.5382C>G (p.Thr1794=)
3g.53801273C>TCA433896150CACNA1Dc.5316C>T (p.Thr1772=)
n.2255C>T
n.691C>T
c.5256C>T (p.Thr1752=)
c.5211C>T (p.Thr1737=)
c.1377C>T
n.612C>T
n.683C>T
c.5283C>T (p.Thr1761=)
n.10C>T
c.4335C>T (p.Thr1445=)
c.5511C>T (p.Thr1837=)
c.5400C>T (p.Thr1800=)
c.5322C>T (p.Thr1774=)
c.4974C>T (p.Thr1658=)
c.4599C>T (p.Thr1533=)
c.5406C>T (p.Thr1802=)
c.5508C>T (p.Thr1836=)
c.5451C>T (p.Thr1817=)
c.5427C>T (p.Thr1809=)
c.5382C>T (p.Thr1794=)
 COSMIC COSMIC
3g.53801274T>ACA353250814CACNA1Dc.5317T>A (p.Ser1773Thr)
n.2256T>A
n.692T>A
c.5257T>A (p.Ser1753Thr)
c.5212T>A (p.Ser1738Thr)
c.1378T>A
n.613T>A
n.684T>A
c.5284T>A (p.Ser1762Thr)
n.11T>A
c.4336T>A (p.Ser1446Thr)
c.5512T>A (p.Ser1838Thr)
c.5401T>A (p.Ser1801Thr)
c.5323T>A (p.Ser1775Thr)
c.4975T>A (p.Ser1659Thr)
c.4600T>A (p.Ser1534Thr)
c.5407T>A (p.Ser1803Thr)
c.5509T>A (p.Ser1837Thr)
c.5452T>A (p.Ser1818Thr)
c.5428T>A (p.Ser1810Thr)
c.5383T>A (p.Ser1795Thr)
3g.53801274T>CCA353250817CACNA1Dc.5317T>C (p.Ser1773Pro)
n.2256T>C
n.692T>C
c.5257T>C (p.Ser1753Pro)
c.5212T>C (p.Ser1738Pro)
c.1378T>C
n.613T>C
n.684T>C
c.5284T>C (p.Ser1762Pro)
n.11T>C
c.4336T>C (p.Ser1446Pro)
c.5512T>C (p.Ser1838Pro)
c.5401T>C (p.Ser1801Pro)
c.5323T>C (p.Ser1775Pro)
c.4975T>C (p.Ser1659Pro)
c.4600T>C (p.Ser1534Pro)
c.5407T>C (p.Ser1803Pro)
c.5509T>C (p.Ser1837Pro)
c.5452T>C (p.Ser1818Pro)
c.5428T>C (p.Ser1810Pro)
c.5383T>C (p.Ser1795Pro)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.53801274T>GCA353250819CACNA1Dc.5317T>G (p.Ser1773Ala)
n.2256T>G
n.692T>G
c.5257T>G (p.Ser1753Ala)
c.5212T>G (p.Ser1738Ala)
c.1378T>G
n.613T>G
n.684T>G
c.5284T>G (p.Ser1762Ala)
n.11T>G
c.4336T>G (p.Ser1446Ala)
c.5512T>G (p.Ser1838Ala)
c.5401T>G (p.Ser1801Ala)
c.5323T>G (p.Ser1775Ala)
c.4975T>G (p.Ser1659Ala)
c.4600T>G (p.Ser1534Ala)
c.5407T>G (p.Ser1803Ala)
c.5509T>G (p.Ser1837Ala)
c.5452T>G (p.Ser1818Ala)
c.5428T>G (p.Ser1810Ala)
c.5383T>G (p.Ser1795Ala)
3g.53801274T=CA1365484183CACNA1Dc.5317T= (p.Ser1773=)
n.2256T=
n.692T=
c.5257T= (p.Ser1753=)
c.5212T= (p.Ser1738=)
c.1378T=
n.613T=
n.684T=
c.5284T= (p.Ser1762=)
n.11T=
c.4336T= (p.Ser1446=)
c.5512T= (p.Ser1838=)
c.5401T= (p.Ser1801=)
c.5323T= (p.Ser1775=)
c.4975T= (p.Ser1659=)
c.4600T= (p.Ser1534=)
c.5407T= (p.Ser1803=)
c.5509T= (p.Ser1837=)
c.5452T= (p.Ser1818=)
c.5428T= (p.Ser1810=)
c.5383T= (p.Ser1795=)
3g.53801275C>ACA353250821CACNA1Dc.5318C>A (p.Ser1773Ter)
n.2257C>A
n.693C>A
c.5258C>A (p.Ser1753Ter)
c.5213C>A (p.Ser1738Ter)
c.1379C>A
n.614C>A
n.685C>A
c.5285C>A (p.Ser1762Ter)
n.12C>A
c.4337C>A (p.Ser1446Ter)
c.5513C>A (p.Ser1838Ter)
c.5402C>A (p.Ser1801Ter)
c.5324C>A (p.Ser1775Ter)
c.4976C>A (p.Ser1659Ter)
c.4601C>A (p.Ser1534Ter)
c.5408C>A (p.Ser1803Ter)
c.5510C>A (p.Ser1837Ter)
c.5453C>A (p.Ser1818Ter)
c.5429C>A (p.Ser1810Ter)
c.5384C>A (p.Ser1795Ter)
3g.53801275C>GCA353250826CACNA1Dc.5318C>G (p.Ser1773Ter)
n.2257C>G
n.693C>G
c.5258C>G (p.Ser1753Ter)
c.5213C>G (p.Ser1738Ter)
c.1379C>G
n.614C>G
n.685C>G
c.5285C>G (p.Ser1762Ter)
n.12C>G
c.4337C>G (p.Ser1446Ter)
c.5513C>G (p.Ser1838Ter)
c.5402C>G (p.Ser1801Ter)
c.5324C>G (p.Ser1775Ter)
c.4976C>G (p.Ser1659Ter)
c.4601C>G (p.Ser1534Ter)
c.5408C>G (p.Ser1803Ter)
c.5510C>G (p.Ser1837Ter)
c.5453C>G (p.Ser1818Ter)
c.5429C>G (p.Ser1810Ter)
c.5384C>G (p.Ser1795Ter)
3g.53801275C>TCA353250828CACNA1Dc.5318C>T (p.Ser1773Leu)
n.2257C>T
n.693C>T
c.5258C>T (p.Ser1753Leu)
c.5213C>T (p.Ser1738Leu)
c.1379C>T
n.614C>T
n.685C>T
c.5285C>T (p.Ser1762Leu)
n.12C>T
c.4337C>T (p.Ser1446Leu)
c.5513C>T (p.Ser1838Leu)
c.5402C>T (p.Ser1801Leu)
c.5324C>T (p.Ser1775Leu)
c.4976C>T (p.Ser1659Leu)
c.4601C>T (p.Ser1534Leu)
c.5408C>T (p.Ser1803Leu)
c.5510C>T (p.Ser1837Leu)
c.5453C>T (p.Ser1818Leu)
c.5429C>T (p.Ser1810Leu)
c.5384C>T (p.Ser1795Leu)
3g.53801278_53801280delCA2666139599CACNA1Dc.5321_5323del (p.Thr1774del)
n.2260_2262del
n.696_698del
c.5261_5263del (p.Thr1754del)
c.5216_5218del (p.Thr1739del)
c.1382_1384del
n.617_619del
n.688_690del
c.5288_5290del (p.Thr1763del)
n.15_17del
c.4340_4342del (p.Thr1447del)
c.5516_5518del (p.Thr1839del)
c.5405_5407del (p.Thr1802del)
c.5327_5329del (p.Thr1776del)
c.4979_4981del (p.Thr1660del)
c.4604_4606del (p.Thr1535del)
c.5411_5413del (p.Thr1804del)
c.5513_5515del (p.Thr1838del)
c.5456_5458del (p.Thr1819del)
c.5432_5434del (p.Thr1811del)
c.5387_5389del (p.Thr1796del)
 ClinVar gnomAD v4
3g.53801276A=CA1365484184CACNA1Dc.5319A= (p.Ser1773=)
n.2258A=
n.694A=
c.5259A= (p.Ser1753=)
c.5214A= (p.Ser1738=)
c.1380A=
n.615A=
n.686A=
c.5286A= (p.Ser1762=)
n.13A=
c.4338A= (p.Ser1446=)
c.5514A= (p.Ser1838=)
c.5403A= (p.Ser1801=)
c.5325A= (p.Ser1775=)
c.4977A= (p.Ser1659=)
c.4602A= (p.Ser1534=)
c.5409A= (p.Ser1803=)
c.5511A= (p.Ser1837=)
c.5454A= (p.Ser1818=)
c.5430A= (p.Ser1810=)
c.5385A= (p.Ser1795=)
3g.53801276A>CCA433896153CACNA1Dc.5319A>C (p.Ser1773=)
n.2258A>C
n.694A>C
c.5259A>C (p.Ser1753=)
c.5214A>C (p.Ser1738=)
c.1380A>C
n.615A>C
n.686A>C
c.5286A>C (p.Ser1762=)
n.13A>C
c.4338A>C (p.Ser1446=)
c.5514A>C (p.Ser1838=)
c.5403A>C (p.Ser1801=)
c.5325A>C (p.Ser1775=)
c.4977A>C (p.Ser1659=)
c.4602A>C (p.Ser1534=)
c.5409A>C (p.Ser1803=)
c.5511A>C (p.Ser1837=)
c.5454A>C (p.Ser1818=)
c.5430A>C (p.Ser1810=)
c.5385A>C (p.Ser1795=)
 dbSNP
3g.53801276A>GCA433896154CACNA1Dc.5319A>G (p.Ser1773=)
n.2258A>G
n.694A>G
c.5259A>G (p.Ser1753=)
c.5214A>G (p.Ser1738=)
c.1380A>G
n.615A>G
n.686A>G
c.5286A>G (p.Ser1762=)
n.13A>G
c.4338A>G (p.Ser1446=)
c.5514A>G (p.Ser1838=)
c.5403A>G (p.Ser1801=)
c.5325A>G (p.Ser1775=)
c.4977A>G (p.Ser1659=)
c.4602A>G (p.Ser1534=)
c.5409A>G (p.Ser1803=)
c.5511A>G (p.Ser1837=)
c.5454A>G (p.Ser1818=)
c.5430A>G (p.Ser1810=)
c.5385A>G (p.Ser1795=)
 ClinVar dbSNP gnomAD v4
3g.53801276A>TCA433896156CACNA1Dc.5319A>T (p.Ser1773=)
n.2258A>T
n.694A>T
c.5259A>T (p.Ser1753=)
c.5214A>T (p.Ser1738=)
c.1380A>T
n.615A>T
n.686A>T
c.5286A>T (p.Ser1762=)
n.13A>T
c.4338A>T (p.Ser1446=)
c.5514A>T (p.Ser1838=)
c.5403A>T (p.Ser1801=)
c.5325A>T (p.Ser1775=)
c.4977A>T (p.Ser1659=)
c.4602A>T (p.Ser1534=)
c.5409A>T (p.Ser1803=)
c.5511A>T (p.Ser1837=)
c.5454A>T (p.Ser1818=)
c.5430A>T (p.Ser1810=)
c.5385A>T (p.Ser1795=)
3g.53801277A=CA1365484185CACNA1Dc.5320A= (p.Thr1774=)
n.2259A=
n.695A=
c.5260A= (p.Thr1754=)
c.5215A= (p.Thr1739=)
c.1381A=
n.616A=
n.687A=
c.5287A= (p.Thr1763=)
n.14A=
c.4339A= (p.Thr1447=)
c.5515A= (p.Thr1839=)
c.5404A= (p.Thr1802=)
c.5326A= (p.Thr1776=)
c.4978A= (p.Thr1660=)
c.4603A= (p.Thr1535=)
c.5410A= (p.Thr1804=)
c.5512A= (p.Thr1838=)
c.5455A= (p.Thr1819=)
c.5431A= (p.Thr1811=)
c.5386A= (p.Thr1796=)
3g.53801277A>CCA353250831CACNA1Dc.5320A>C (p.Thr1774Pro)
n.2259A>C
n.695A>C
c.5260A>C (p.Thr1754Pro)
c.5215A>C (p.Thr1739Pro)
c.1381A>C
n.616A>C
n.687A>C
c.5287A>C (p.Thr1763Pro)
n.14A>C
c.4339A>C (p.Thr1447Pro)
c.5515A>C (p.Thr1839Pro)
c.5404A>C (p.Thr1802Pro)
c.5326A>C (p.Thr1776Pro)
c.4978A>C (p.Thr1660Pro)
c.4603A>C (p.Thr1535Pro)
c.5410A>C (p.Thr1804Pro)
c.5512A>C (p.Thr1838Pro)
c.5455A>C (p.Thr1819Pro)
c.5431A>C (p.Thr1811Pro)
c.5386A>C (p.Thr1796Pro)
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.53801277A>GCA353250833CACNA1Dc.5320A>G (p.Thr1774Ala)
n.2259A>G
n.695A>G
c.5260A>G (p.Thr1754Ala)
c.5215A>G (p.Thr1739Ala)
c.1381A>G
n.616A>G
n.687A>G
c.5287A>G (p.Thr1763Ala)
n.14A>G
c.4339A>G (p.Thr1447Ala)
c.5515A>G (p.Thr1839Ala)
c.5404A>G (p.Thr1802Ala)
c.5326A>G (p.Thr1776Ala)
c.4978A>G (p.Thr1660Ala)
c.4603A>G (p.Thr1535Ala)
c.5410A>G (p.Thr1804Ala)
c.5512A>G (p.Thr1838Ala)
c.5455A>G (p.Thr1819Ala)
c.5431A>G (p.Thr1811Ala)
c.5386A>G (p.Thr1796Ala)
 gnomAD v4
3g.53801277A>TCA353250834CACNA1Dc.5320A>T (p.Thr1774Ser)
n.2259A>T
n.695A>T
c.5260A>T (p.Thr1754Ser)
c.5215A>T (p.Thr1739Ser)
c.1381A>T
n.616A>T
n.687A>T
c.5287A>T (p.Thr1763Ser)
n.14A>T
c.4339A>T (p.Thr1447Ser)
c.5515A>T (p.Thr1839Ser)
c.5404A>T (p.Thr1802Ser)
c.5326A>T (p.Thr1776Ser)
c.4978A>T (p.Thr1660Ser)
c.4603A>T (p.Thr1535Ser)
c.5410A>T (p.Thr1804Ser)
c.5512A>T (p.Thr1838Ser)
c.5455A>T (p.Thr1819Ser)
c.5431A>T (p.Thr1811Ser)
c.5386A>T (p.Thr1796Ser)
3g.53801278C>ACA353250837CACNA1Dc.5321C>A (p.Thr1774Lys)
n.2260C>A
n.696C>A
c.5261C>A (p.Thr1754Lys)
c.5216C>A (p.Thr1739Lys)
c.1382C>A
n.617C>A
n.688C>A
c.5288C>A (p.Thr1763Lys)
n.15C>A
c.4340C>A (p.Thr1447Lys)
c.5516C>A (p.Thr1839Lys)
c.5405C>A (p.Thr1802Lys)
c.5327C>A (p.Thr1776Lys)
c.4979C>A (p.Thr1660Lys)
c.4604C>A (p.Thr1535Lys)
c.5411C>A (p.Thr1804Lys)
c.5513C>A (p.Thr1838Lys)
c.5456C>A (p.Thr1819Lys)
c.5432C>A (p.Thr1811Lys)
c.5387C>A (p.Thr1796Lys)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.53801278C=CA1365484186CACNA1Dc.5321C= (p.Thr1774=)
n.2260C=
n.696C=
c.5261C= (p.Thr1754=)
c.5216C= (p.Thr1739=)
c.1382C=
n.617C=
n.688C=
c.5288C= (p.Thr1763=)
n.15C=
c.4340C= (p.Thr1447=)
c.5516C= (p.Thr1839=)
c.5405C= (p.Thr1802=)
c.5327C= (p.Thr1776=)
c.4979C= (p.Thr1660=)
c.4604C= (p.Thr1535=)
c.5411C= (p.Thr1804=)
c.5513C= (p.Thr1838=)
c.5456C= (p.Thr1819=)
c.5432C= (p.Thr1811=)
c.5387C= (p.Thr1796=)
3g.53801278C>GCA353250840CACNA1Dc.5321C>G (p.Thr1774Arg)
n.2260C>G
n.696C>G
c.5261C>G (p.Thr1754Arg)
c.5216C>G (p.Thr1739Arg)
c.1382C>G
n.617C>G
n.688C>G
c.5288C>G (p.Thr1763Arg)
n.15C>G
c.4340C>G (p.Thr1447Arg)
c.5516C>G (p.Thr1839Arg)
c.5405C>G (p.Thr1802Arg)
c.5327C>G (p.Thr1776Arg)
c.4979C>G (p.Thr1660Arg)
c.4604C>G (p.Thr1535Arg)
c.5411C>G (p.Thr1804Arg)
c.5513C>G (p.Thr1838Arg)
c.5456C>G (p.Thr1819Arg)
c.5432C>G (p.Thr1811Arg)
c.5387C>G (p.Thr1796Arg)
3g.53801278C>TCA353250839CACNA1Dc.5321C>T (p.Thr1774Ile)
n.2260C>T
n.696C>T
c.5261C>T (p.Thr1754Ile)
c.5216C>T (p.Thr1739Ile)
c.1382C>T
n.617C>T
n.688C>T
c.5288C>T (p.Thr1763Ile)
n.15C>T
c.4340C>T (p.Thr1447Ile)
c.5516C>T (p.Thr1839Ile)
c.5405C>T (p.Thr1802Ile)
c.5327C>T (p.Thr1776Ile)
c.4979C>T (p.Thr1660Ile)
c.4604C>T (p.Thr1535Ile)
c.5411C>T (p.Thr1804Ile)
c.5513C>T (p.Thr1838Ile)
c.5456C>T (p.Thr1819Ile)
c.5432C>T (p.Thr1811Ile)
c.5387C>T (p.Thr1796Ile)
 gnomAD v4
3g.53801279A>CCA433896157CACNA1Dc.5322A>C (p.Thr1774=)
n.2261A>C
n.697A>C
c.5262A>C (p.Thr1754=)
c.5217A>C (p.Thr1739=)
c.1383A>C
n.618A>C
n.689A>C
c.5289A>C (p.Thr1763=)
n.16A>C
c.4341A>C (p.Thr1447=)
c.5517A>C (p.Thr1839=)
c.5406A>C (p.Thr1802=)
c.5328A>C (p.Thr1776=)
c.4980A>C (p.Thr1660=)
c.4605A>C (p.Thr1535=)
c.5412A>C (p.Thr1804=)
c.5514A>C (p.Thr1838=)
c.5457A>C (p.Thr1819=)
c.5433A>C (p.Thr1811=)
c.5388A>C (p.Thr1796=)
3g.53801279A>GCA433896158CACNA1Dc.5322A>G (p.Thr1774=)
n.2261A>G
n.697A>G
c.5262A>G (p.Thr1754=)
c.5217A>G (p.Thr1739=)
c.1383A>G
n.618A>G
n.689A>G
c.5289A>G (p.Thr1763=)
n.16A>G
c.4341A>G (p.Thr1447=)
c.5517A>G (p.Thr1839=)
c.5406A>G (p.Thr1802=)
c.5328A>G (p.Thr1776=)
c.4980A>G (p.Thr1660=)
c.4605A>G (p.Thr1535=)
c.5412A>G (p.Thr1804=)
c.5514A>G (p.Thr1838=)
c.5457A>G (p.Thr1819=)
c.5433A>G (p.Thr1811=)
c.5388A>G (p.Thr1796=)
3g.53801279A>TCA433896159CACNA1Dc.5322A>T (p.Thr1774=)
n.2261A>T
n.697A>T
c.5262A>T (p.Thr1754=)
c.5217A>T (p.Thr1739=)
c.1383A>T
n.618A>T
n.689A>T
c.5289A>T (p.Thr1763=)
n.16A>T
c.4341A>T (p.Thr1447=)
c.5517A>T (p.Thr1839=)
c.5406A>T (p.Thr1802=)
c.5328A>T (p.Thr1776=)
c.4980A>T (p.Thr1660=)
c.4605A>T (p.Thr1535=)
c.5412A>T (p.Thr1804=)
c.5514A>T (p.Thr1838=)
c.5457A>T (p.Thr1819=)
c.5433A>T (p.Thr1811=)
c.5388A>T (p.Thr1796=)
3g.53801280A>CCA353250843CACNA1Dc.5323A>C (p.Asn1775His)
n.2262A>C
n.698A>C
c.5263A>C (p.Asn1755His)
c.5218A>C (p.Asn1740His)
c.1384A>C
n.619A>C
n.690A>C
c.5290A>C (p.Asn1764His)
n.17A>C
c.4342A>C (p.Asn1448His)
c.5518A>C (p.Asn1840His)
c.5407A>C (p.Asn1803His)
c.5329A>C (p.Asn1777His)
c.4981A>C (p.Asn1661His)
c.4606A>C (p.Asn1536His)
c.5413A>C (p.Asn1805His)
c.5515A>C (p.Asn1839His)
c.5458A>C (p.Asn1820His)
c.5434A>C (p.Asn1812His)
c.5389A>C (p.Asn1797His)
3g.53801280A>GCA353250845CACNA1Dc.5323A>G (p.Asn1775Asp)
n.2262A>G
n.698A>G
c.5263A>G (p.Asn1755Asp)
c.5218A>G (p.Asn1740Asp)
c.1384A>G
n.619A>G
n.690A>G
c.5290A>G (p.Asn1764Asp)
n.17A>G
c.4342A>G (p.Asn1448Asp)
c.5518A>G (p.Asn1840Asp)
c.5407A>G (p.Asn1803Asp)
c.5329A>G (p.Asn1777Asp)
c.4981A>G (p.Asn1661Asp)
c.4606A>G (p.Asn1536Asp)
c.5413A>G (p.Asn1805Asp)
c.5515A>G (p.Asn1839Asp)
c.5458A>G (p.Asn1820Asp)
c.5434A>G (p.Asn1812Asp)
c.5389A>G (p.Asn1797Asp)
3g.53801280A>TCA353250847CACNA1Dc.5323A>T (p.Asn1775Tyr)
n.2262A>T
n.698A>T
c.5263A>T (p.Asn1755Tyr)
c.5218A>T (p.Asn1740Tyr)
c.1384A>T
n.619A>T
n.690A>T
c.5290A>T (p.Asn1764Tyr)
n.17A>T
c.4342A>T (p.Asn1448Tyr)
c.5518A>T (p.Asn1840Tyr)
c.5407A>T (p.Asn1803Tyr)
c.5329A>T (p.Asn1777Tyr)
c.4981A>T (p.Asn1661Tyr)
c.4606A>T (p.Asn1536Tyr)
c.5413A>T (p.Asn1805Tyr)
c.5515A>T (p.Asn1839Tyr)
c.5458A>T (p.Asn1820Tyr)
c.5434A>T (p.Asn1812Tyr)
c.5389A>T (p.Asn1797Tyr)
3g.53801281A>CCA353250850CACNA1Dc.5324A>C (p.Asn1775Thr)
n.2263A>C
n.699A>C
c.5264A>C (p.Asn1755Thr)
c.5219A>C (p.Asn1740Thr)
c.1385A>C
n.620A>C
n.691A>C
c.5291A>C (p.Asn1764Thr)
n.18A>C
c.4343A>C (p.Asn1448Thr)
c.5519A>C (p.Asn1840Thr)
c.5408A>C (p.Asn1803Thr)
c.5330A>C (p.Asn1777Thr)
c.4982A>C (p.Asn1661Thr)
c.4607A>C (p.Asn1536Thr)
c.5414A>C (p.Asn1805Thr)
c.5516A>C (p.Asn1839Thr)
c.5459A>C (p.Asn1820Thr)
c.5435A>C (p.Asn1812Thr)
c.5390A>C (p.Asn1797Thr)
 COSMIC
3g.53801281A>GCA353250851CACNA1Dc.5324A>G (p.Asn1775Ser)
n.2263A>G
n.699A>G
c.5264A>G (p.Asn1755Ser)
c.5219A>G (p.Asn1740Ser)
c.1385A>G
n.620A>G
n.691A>G
c.5291A>G (p.Asn1764Ser)
n.18A>G
c.4343A>G (p.Asn1448Ser)
c.5519A>G (p.Asn1840Ser)
c.5408A>G (p.Asn1803Ser)
c.5330A>G (p.Asn1777Ser)
c.4982A>G (p.Asn1661Ser)
c.4607A>G (p.Asn1536Ser)
c.5414A>G (p.Asn1805Ser)
c.5516A>G (p.Asn1839Ser)
c.5459A>G (p.Asn1820Ser)
c.5435A>G (p.Asn1812Ser)
c.5390A>G (p.Asn1797Ser)
3g.53801281A>TCA353250853CACNA1Dc.5324A>T (p.Asn1775Ile)
n.2263A>T
n.699A>T
c.5264A>T (p.Asn1755Ile)
c.5219A>T (p.Asn1740Ile)
c.1385A>T
n.620A>T
n.691A>T
c.5291A>T (p.Asn1764Ile)
n.18A>T
c.4343A>T (p.Asn1448Ile)
c.5519A>T (p.Asn1840Ile)
c.5408A>T (p.Asn1803Ile)
c.5330A>T (p.Asn1777Ile)
c.4982A>T (p.Asn1661Ile)
c.4607A>T (p.Asn1536Ile)
c.5414A>T (p.Asn1805Ile)
c.5516A>T (p.Asn1839Ile)
c.5459A>T (p.Asn1820Ile)
c.5435A>T (p.Asn1812Ile)
c.5390A>T (p.Asn1797Ile)
3g.53801282T>ACA353250855CACNA1Dc.5325T>A (p.Asn1775Lys)
n.2264T>A
n.700T>A
c.5265T>A (p.Asn1755Lys)
c.5220T>A (p.Asn1740Lys)
c.1386T>A
n.621T>A
n.692T>A
c.5292T>A (p.Asn1764Lys)
n.19T>A
c.4344T>A (p.Asn1448Lys)
c.5520T>A (p.Asn1840Lys)
c.5409T>A (p.Asn1803Lys)
c.5331T>A (p.Asn1777Lys)
c.4983T>A (p.Asn1661Lys)
c.4608T>A (p.Asn1536Lys)
c.5415T>A (p.Asn1805Lys)
c.5517T>A (p.Asn1839Lys)
c.5460T>A (p.Asn1820Lys)
c.5436T>A (p.Asn1812Lys)
c.5391T>A (p.Asn1797Lys)
3g.53801282T>CCA433896162CACNA1Dc.5325T>C (p.Asn1775=)
n.2264T>C
n.700T>C
c.5265T>C (p.Asn1755=)
c.5220T>C (p.Asn1740=)
c.1386T>C
n.621T>C
n.692T>C
c.5292T>C (p.Asn1764=)
n.19T>C
c.4344T>C (p.Asn1448=)
c.5520T>C (p.Asn1840=)
c.5409T>C (p.Asn1803=)
c.5331T>C (p.Asn1777=)
c.4983T>C (p.Asn1661=)
c.4608T>C (p.Asn1536=)
c.5415T>C (p.Asn1805=)
c.5517T>C (p.Asn1839=)
c.5460T>C (p.Asn1820=)
c.5436T>C (p.Asn1812=)
c.5391T>C (p.Asn1797=)
3g.53801282T>GCA353250857CACNA1Dc.5325T>G (p.Asn1775Lys)
n.2264T>G
n.700T>G
c.5265T>G (p.Asn1755Lys)
c.5220T>G (p.Asn1740Lys)
c.1386T>G
n.621T>G
n.692T>G
c.5292T>G (p.Asn1764Lys)
n.19T>G
c.4344T>G (p.Asn1448Lys)
c.5520T>G (p.Asn1840Lys)
c.5409T>G (p.Asn1803Lys)
c.5331T>G (p.Asn1777Lys)
c.4983T>G (p.Asn1661Lys)
c.4608T>G (p.Asn1536Lys)
c.5415T>G (p.Asn1805Lys)
c.5517T>G (p.Asn1839Lys)
c.5460T>G (p.Asn1820Lys)
c.5436T>G (p.Asn1812Lys)
c.5391T>G (p.Asn1797Lys)
3g.53801283G>ACA353250860CACNA1Dc.5326G>A (p.Ala1776Thr)
n.2265G>A
n.701G>A
c.5266G>A (p.Ala1756Thr)
c.5221G>A (p.Ala1741Thr)
c.1387G>A
n.622G>A
n.693G>A
c.5293G>A (p.Ala1765Thr)
n.20G>A
c.4345G>A (p.Ala1449Thr)
c.5521G>A (p.Ala1841Thr)
c.5410G>A (p.Ala1804Thr)
c.5332G>A (p.Ala1778Thr)
c.4984G>A (p.Ala1662Thr)
c.4609G>A (p.Ala1537Thr)
c.5416G>A (p.Ala1806Thr)
c.5518G>A (p.Ala1840Thr)
c.5461G>A (p.Ala1821Thr)
c.5437G>A (p.Ala1813Thr)
c.5392G>A (p.Ala1798Thr)
 ClinVar
3g.53801283G>CCA353250861CACNA1Dc.5326G>C (p.Ala1776Pro)
n.2265G>C
n.701G>C
c.5266G>C (p.Ala1756Pro)
c.5221G>C (p.Ala1741Pro)
c.1387G>C
n.622G>C
n.693G>C
c.5293G>C (p.Ala1765Pro)
n.20G>C
c.4345G>C (p.Ala1449Pro)
c.5521G>C (p.Ala1841Pro)
c.5410G>C (p.Ala1804Pro)
c.5332G>C (p.Ala1778Pro)
c.4984G>C (p.Ala1662Pro)
c.4609G>C (p.Ala1537Pro)
c.5416G>C (p.Ala1806Pro)
c.5518G>C (p.Ala1840Pro)
c.5461G>C (p.Ala1821Pro)
c.5437G>C (p.Ala1813Pro)
c.5392G>C (p.Ala1798Pro)
3g.53801283G>TCA353250863CACNA1Dc.5326G>T (p.Ala1776Ser)
n.2265G>T
n.701G>T
c.5266G>T (p.Ala1756Ser)
c.5221G>T (p.Ala1741Ser)
c.1387G>T
n.622G>T
n.693G>T
c.5293G>T (p.Ala1765Ser)
n.20G>T
c.4345G>T (p.Ala1449Ser)
c.5521G>T (p.Ala1841Ser)
c.5410G>T (p.Ala1804Ser)
c.5332G>T (p.Ala1778Ser)
c.4984G>T (p.Ala1662Ser)
c.4609G>T (p.Ala1537Ser)
c.5416G>T (p.Ala1806Ser)
c.5518G>T (p.Ala1840Ser)
c.5461G>T (p.Ala1821Ser)
c.5437G>T (p.Ala1813Ser)
c.5392G>T (p.Ala1798Ser)
3g.53801284C>ACA353250866CACNA1Dc.5327C>A (p.Ala1776Asp)
n.2266C>A
n.702C>A
c.5267C>A (p.Ala1756Asp)
c.5222C>A (p.Ala1741Asp)
c.1388C>A
n.623C>A
n.694C>A
c.5294C>A (p.Ala1765Asp)
n.21C>A
c.4346C>A (p.Ala1449Asp)
c.5522C>A (p.Ala1841Asp)
c.5411C>A (p.Ala1804Asp)
c.5333C>A (p.Ala1778Asp)
c.4985C>A (p.Ala1662Asp)
c.4610C>A (p.Ala1537Asp)
c.5417C>A (p.Ala1806Asp)
c.5519C>A (p.Ala1840Asp)
c.5462C>A (p.Ala1821Asp)
c.5438C>A (p.Ala1813Asp)
c.5393C>A (p.Ala1798Asp)
 gnomAD v4
3g.53801284C>GCA353250867CACNA1Dc.5327C>G (p.Ala1776Gly)
n.2266C>G
n.702C>G
c.5267C>G (p.Ala1756Gly)
c.5222C>G (p.Ala1741Gly)
c.1388C>G
n.623C>G
n.694C>G
c.5294C>G (p.Ala1765Gly)
n.21C>G
c.4346C>G (p.Ala1449Gly)
c.5522C>G (p.Ala1841Gly)
c.5411C>G (p.Ala1804Gly)
c.5333C>G (p.Ala1778Gly)
c.4985C>G (p.Ala1662Gly)
c.4610C>G (p.Ala1537Gly)
c.5417C>G (p.Ala1806Gly)
c.5519C>G (p.Ala1840Gly)
c.5462C>G (p.Ala1821Gly)
c.5438C>G (p.Ala1813Gly)
c.5393C>G (p.Ala1798Gly)
3g.53801284C>TCA353250869CACNA1Dc.5327C>T (p.Ala1776Val)
n.2266C>T
n.702C>T
c.5267C>T (p.Ala1756Val)
c.5222C>T (p.Ala1741Val)
c.1388C>T
n.623C>T
n.694C>T
c.5294C>T (p.Ala1765Val)
n.21C>T
c.4346C>T (p.Ala1449Val)
c.5522C>T (p.Ala1841Val)
c.5411C>T (p.Ala1804Val)
c.5333C>T (p.Ala1778Val)
c.4985C>T (p.Ala1662Val)
c.4610C>T (p.Ala1537Val)
c.5417C>T (p.Ala1806Val)
c.5519C>T (p.Ala1840Val)
c.5462C>T (p.Ala1821Val)
c.5438C>T (p.Ala1813Val)
c.5393C>T (p.Ala1798Val)
 gnomAD v4
3g.53801285C>ACA433896165CACNA1Dc.5328C>A (p.Ala1776=)
n.2267C>A
n.703C>A
c.5268C>A (p.Ala1756=)
c.5223C>A (p.Ala1741=)
c.1389C>A
n.624C>A
n.695C>A
c.5295C>A (p.Ala1765=)
n.22C>A
c.4347C>A (p.Ala1449=)
c.5523C>A (p.Ala1841=)
c.5412C>A (p.Ala1804=)
c.5334C>A (p.Ala1778=)
c.4986C>A (p.Ala1662=)
c.4611C>A (p.Ala1537=)
c.5418C>A (p.Ala1806=)
c.5520C>A (p.Ala1840=)
c.5463C>A (p.Ala1821=)
c.5439C>A (p.Ala1813=)
c.5394C>A (p.Ala1798=)
3g.53801285C>GCA433896164CACNA1Dc.5328C>G (p.Ala1776=)
n.2267C>G
n.703C>G
c.5268C>G (p.Ala1756=)
c.5223C>G (p.Ala1741=)
c.1389C>G
n.624C>G
n.695C>G
c.5295C>G (p.Ala1765=)
n.22C>G
c.4347C>G (p.Ala1449=)
c.5523C>G (p.Ala1841=)
c.5412C>G (p.Ala1804=)
c.5334C>G (p.Ala1778=)
c.4986C>G (p.Ala1662=)
c.4611C>G (p.Ala1537=)
c.5418C>G (p.Ala1806=)
c.5520C>G (p.Ala1840=)
c.5463C>G (p.Ala1821=)
c.5439C>G (p.Ala1813=)
c.5394C>G (p.Ala1798=)
3g.53801285C>TCA433896163CACNA1Dc.5328C>T (p.Ala1776=)
n.2267C>T
n.703C>T
c.5268C>T (p.Ala1756=)
c.5223C>T (p.Ala1741=)
c.1389C>T
n.624C>T
n.695C>T
c.5295C>T (p.Ala1765=)
n.22C>T
c.4347C>T (p.Ala1449=)
c.5523C>T (p.Ala1841=)
c.5412C>T (p.Ala1804=)
c.5334C>T (p.Ala1778=)
c.4986C>T (p.Ala1662=)
c.4611C>T (p.Ala1537=)
c.5418C>T (p.Ala1806=)
c.5520C>T (p.Ala1840=)
c.5463C>T (p.Ala1821=)
c.5439C>T (p.Ala1813=)
c.5394C>T (p.Ala1798=)
 ClinVar
3g.53801286A>CCA353250876CACNA1Dc.5329A>C (p.Asn1777His)
n.2268A>C
n.704A>C
c.5269A>C (p.Asn1757His)
c.5224A>C (p.Asn1742His)
c.1390A>C
n.625A>C
n.696A>C
c.5296A>C (p.Asn1766His)
n.23A>C
c.4348A>C (p.Asn1450His)
c.5524A>C (p.Asn1842His)
c.5413A>C (p.Asn1805His)
c.5335A>C (p.Asn1779His)
c.4987A>C (p.Asn1663His)
c.4612A>C (p.Asn1538His)
c.5419A>C (p.Asn1807His)
c.5521A>C (p.Asn1841His)
c.5464A>C (p.Asn1822His)
c.5440A>C (p.Asn1814His)
c.5395A>C (p.Asn1799His)
3g.53801286A>GCA353250874CACNA1Dc.5329A>G (p.Asn1777Asp)
n.2268A>G
n.704A>G
c.5269A>G (p.Asn1757Asp)
c.5224A>G (p.Asn1742Asp)
c.1390A>G
n.625A>G
n.696A>G
c.5296A>G (p.Asn1766Asp)
n.23A>G
c.4348A>G (p.Asn1450Asp)
c.5524A>G (p.Asn1842Asp)
c.5413A>G (p.Asn1805Asp)
c.5335A>G (p.Asn1779Asp)
c.4987A>G (p.Asn1663Asp)
c.4612A>G (p.Asn1538Asp)
c.5419A>G (p.Asn1807Asp)
c.5521A>G (p.Asn1841Asp)
c.5464A>G (p.Asn1822Asp)
c.5440A>G (p.Asn1814Asp)
c.5395A>G (p.Asn1799Asp)
3g.53801286A>TCA353250872CACNA1Dc.5329A>T (p.Asn1777Tyr)
n.2268A>T
n.704A>T
c.5269A>T (p.Asn1757Tyr)
c.5224A>T (p.Asn1742Tyr)
c.1390A>T
n.625A>T
n.696A>T
c.5296A>T (p.Asn1766Tyr)
n.23A>T
c.4348A>T (p.Asn1450Tyr)
c.5524A>T (p.Asn1842Tyr)
c.5413A>T (p.Asn1805Tyr)
c.5335A>T (p.Asn1779Tyr)
c.4987A>T (p.Asn1663Tyr)
c.4612A>T (p.Asn1538Tyr)
c.5419A>T (p.Asn1807Tyr)
c.5521A>T (p.Asn1841Tyr)
c.5464A>T (p.Asn1822Tyr)
c.5440A>T (p.Asn1814Tyr)
c.5395A>T (p.Asn1799Tyr)
3g.53801287A=CA1365484187CACNA1Dc.5330A= (p.Asn1777=)
n.2269A=
n.705A=
c.5270A= (p.Asn1757=)
c.5225A= (p.Asn1742=)
c.1391A=
n.626A=
n.697A=
c.5297A= (p.Asn1766=)
n.24A=
c.4349A= (p.Asn1450=)
c.5525A= (p.Asn1842=)
c.5414A= (p.Asn1805=)
c.5336A= (p.Asn1779=)
c.4988A= (p.Asn1663=)
c.4613A= (p.Asn1538=)
c.5420A= (p.Asn1807=)
c.5522A= (p.Asn1841=)
c.5465A= (p.Asn1822=)
c.5441A= (p.Asn1814=)
c.5396A= (p.Asn1799=)
3g.53801287A>CCA353250878CACNA1Dc.5330A>C (p.Asn1777Thr)
n.2269A>C
n.705A>C
c.5270A>C (p.Asn1757Thr)
c.5225A>C (p.Asn1742Thr)
c.1391A>C
n.626A>C
n.697A>C
c.5297A>C (p.Asn1766Thr)
n.24A>C
c.4349A>C (p.Asn1450Thr)
c.5525A>C (p.Asn1842Thr)
c.5414A>C (p.Asn1805Thr)
c.5336A>C (p.Asn1779Thr)
c.4988A>C (p.Asn1663Thr)
c.4613A>C (p.Asn1538Thr)
c.5420A>C (p.Asn1807Thr)
c.5522A>C (p.Asn1841Thr)
c.5465A>C (p.Asn1822Thr)
c.5441A>C (p.Asn1814Thr)
c.5396A>C (p.Asn1799Thr)
3g.53801287A>GCA2455092CACNA1Dc.5330A>G (p.Asn1777Ser)
n.2269A>G
n.705A>G
c.5270A>G (p.Asn1757Ser)
c.5225A>G (p.Asn1742Ser)
c.1391A>G
n.626A>G
n.697A>G
c.5297A>G (p.Asn1766Ser)
n.24A>G
c.4349A>G (p.Asn1450Ser)
c.5525A>G (p.Asn1842Ser)
c.5414A>G (p.Asn1805Ser)
c.5336A>G (p.Asn1779Ser)
c.4988A>G (p.Asn1663Ser)
c.4613A>G (p.Asn1538Ser)
c.5420A>G (p.Asn1807Ser)
c.5522A>G (p.Asn1841Ser)
c.5465A>G (p.Asn1822Ser)
c.5441A>G (p.Asn1814Ser)
c.5396A>G (p.Asn1799Ser)
 dbSNP ExAC gnomAD v2
3g.53801287A>TCA353250881CACNA1Dc.5330A>T (p.Asn1777Ile)
n.2269A>T
n.705A>T
c.5270A>T (p.Asn1757Ile)
c.5225A>T (p.Asn1742Ile)
c.1391A>T
n.626A>T
n.697A>T
c.5297A>T (p.Asn1766Ile)
n.24A>T
c.4349A>T (p.Asn1450Ile)
c.5525A>T (p.Asn1842Ile)
c.5414A>T (p.Asn1805Ile)
c.5336A>T (p.Asn1779Ile)
c.4988A>T (p.Asn1663Ile)
c.4613A>T (p.Asn1538Ile)
c.5420A>T (p.Asn1807Ile)
c.5522A>T (p.Asn1841Ile)
c.5465A>T (p.Asn1822Ile)
c.5441A>T (p.Asn1814Ile)
c.5396A>T (p.Asn1799Ile)
3g.53801288T>ACA353250883CACNA1Dc.5331T>A (p.Asn1777Lys)
n.2270T>A
n.706T>A
c.5271T>A (p.Asn1757Lys)
c.5226T>A (p.Asn1742Lys)
c.1392T>A
n.627T>A
n.698T>A
c.5298T>A (p.Asn1766Lys)
n.25T>A
c.4350T>A (p.Asn1450Lys)
c.5526T>A (p.Asn1842Lys)
c.5415T>A (p.Asn1805Lys)
c.5337T>A (p.Asn1779Lys)
c.4989T>A (p.Asn1663Lys)
c.4614T>A (p.Asn1538Lys)
c.5421T>A (p.Asn1807Lys)
c.5523T>A (p.Asn1841Lys)
c.5466T>A (p.Asn1822Lys)
c.5442T>A (p.Asn1814Lys)
c.5397T>A (p.Asn1799Lys)
3g.53801288T>CCA433896169CACNA1Dc.5331T>C (p.Asn1777=)
n.2270T>C
n.706T>C
c.5271T>C (p.Asn1757=)
c.5226T>C (p.Asn1742=)
c.1392T>C
n.627T>C
n.698T>C
c.5298T>C (p.Asn1766=)
n.25T>C
c.4350T>C (p.Asn1450=)
c.5526T>C (p.Asn1842=)
c.5415T>C (p.Asn1805=)
c.5337T>C (p.Asn1779=)
c.4989T>C (p.Asn1663=)
c.4614T>C (p.Asn1538=)
c.5421T>C (p.Asn1807=)
c.5523T>C (p.Asn1841=)
c.5466T>C (p.Asn1822=)
c.5442T>C (p.Asn1814=)
c.5397T>C (p.Asn1799=)
3g.53801288T>GCA353250885CACNA1Dc.5331T>G (p.Asn1777Lys)
n.2270T>G
n.706T>G
c.5271T>G (p.Asn1757Lys)
c.5226T>G (p.Asn1742Lys)
c.1392T>G
n.627T>G
n.698T>G
c.5298T>G (p.Asn1766Lys)
n.25T>G
c.4350T>G (p.Asn1450Lys)
c.5526T>G (p.Asn1842Lys)
c.5415T>G (p.Asn1805Lys)
c.5337T>G (p.Asn1779Lys)
c.4989T>G (p.Asn1663Lys)
c.4614T>G (p.Asn1538Lys)
c.5421T>G (p.Asn1807Lys)
c.5523T>G (p.Asn1841Lys)
c.5466T>G (p.Asn1822Lys)
c.5442T>G (p.Asn1814Lys)
c.5397T>G (p.Asn1799Lys)
 dbSNP gnomAD v3 gnomAD v4
3g.53801288T=CA1365484188CACNA1Dc.5331T= (p.Asn1777=)
n.2270T=
n.706T=
c.5271T= (p.Asn1757=)
c.5226T= (p.Asn1742=)
c.1392T=
n.627T=
n.698T=
c.5298T= (p.Asn1766=)
n.25T=
c.4350T= (p.Asn1450=)
c.5526T= (p.Asn1842=)
c.5415T= (p.Asn1805=)
c.5337T= (p.Asn1779=)
c.4989T= (p.Asn1663=)
c.4614T= (p.Asn1538=)
c.5421T= (p.Asn1807=)
c.5523T= (p.Asn1841=)
c.5466T= (p.Asn1822=)
c.5442T= (p.Asn1814=)
c.5397T= (p.Asn1799=)
3g.53801289C>ACA353250888CACNA1Dc.5332C>A (p.Leu1778Ile)
n.2271C>A
n.707C>A
c.5272C>A (p.Leu1758Ile)
c.5227C>A (p.Leu1743Ile)
c.1393C>A
n.628C>A
n.699C>A
c.5299C>A (p.Leu1767Ile)
n.26C>A
c.4351C>A (p.Leu1451Ile)
c.5527C>A (p.Leu1843Ile)
c.5416C>A (p.Leu1806Ile)
c.5338C>A (p.Leu1780Ile)
c.4990C>A (p.Leu1664Ile)
c.4615C>A (p.Leu1539Ile)
c.5422C>A (p.Leu1808Ile)
c.5524C>A (p.Leu1842Ile)
c.5467C>A (p.Leu1823Ile)
c.5443C>A (p.Leu1815Ile)
c.5398C>A (p.Leu1800Ile)
3g.53801289C>GCA353250889CACNA1Dc.5332C>G (p.Leu1778Val)
n.2271C>G
n.707C>G
c.5272C>G (p.Leu1758Val)
c.5227C>G (p.Leu1743Val)
c.1393C>G
n.628C>G
n.699C>G
c.5299C>G (p.Leu1767Val)
n.26C>G
c.4351C>G (p.Leu1451Val)
c.5527C>G (p.Leu1843Val)
c.5416C>G (p.Leu1806Val)
c.5338C>G (p.Leu1780Val)
c.4990C>G (p.Leu1664Val)
c.4615C>G (p.Leu1539Val)
c.5422C>G (p.Leu1808Val)
c.5524C>G (p.Leu1842Val)
c.5467C>G (p.Leu1823Val)
c.5443C>G (p.Leu1815Val)
c.5398C>G (p.Leu1800Val)
3g.53801289C>TCA353250890CACNA1Dc.5332C>T (p.Leu1778Phe)
n.2271C>T
n.707C>T
c.5272C>T (p.Leu1758Phe)
c.5227C>T (p.Leu1743Phe)
c.1393C>T
n.628C>T
n.699C>T
c.5299C>T (p.Leu1767Phe)
n.26C>T
c.4351C>T (p.Leu1451Phe)
c.5527C>T (p.Leu1843Phe)
c.5416C>T (p.Leu1806Phe)
c.5338C>T (p.Leu1780Phe)
c.4990C>T (p.Leu1664Phe)
c.4615C>T (p.Leu1539Phe)
c.5422C>T (p.Leu1808Phe)
c.5524C>T (p.Leu1842Phe)
c.5467C>T (p.Leu1823Phe)
c.5443C>T (p.Leu1815Phe)
c.5398C>T (p.Leu1800Phe)
3g.53801290T>ACA353250892CACNA1Dc.5333T>A (p.Leu1778His)
n.2272T>A
n.708T>A
c.5273T>A (p.Leu1758His)
c.5228T>A (p.Leu1743His)
c.1394T>A
n.629T>A
n.700T>A
c.5300T>A (p.Leu1767His)
n.27T>A
c.4352T>A (p.Leu1451His)
c.5528T>A (p.Leu1843His)
c.5417T>A (p.Leu1806His)
c.5339T>A (p.Leu1780His)
c.4991T>A (p.Leu1664His)
c.4616T>A (p.Leu1539His)
c.5423T>A (p.Leu1808His)
c.5525T>A (p.Leu1842His)
c.5468T>A (p.Leu1823His)
c.5444T>A (p.Leu1815His)
c.5399T>A (p.Leu1800His)
3g.53801290T>CCA353250894CACNA1Dc.5333T>C (p.Leu1778Pro)
n.2272T>C
n.708T>C
c.5273T>C (p.Leu1758Pro)
c.5228T>C (p.Leu1743Pro)
c.1394T>C
n.629T>C
n.700T>C
c.5300T>C (p.Leu1767Pro)
n.27T>C
c.4352T>C (p.Leu1451Pro)
c.5528T>C (p.Leu1843Pro)
c.5417T>C (p.Leu1806Pro)
c.5339T>C (p.Leu1780Pro)
c.4991T>C (p.Leu1664Pro)
c.4616T>C (p.Leu1539Pro)
c.5423T>C (p.Leu1808Pro)
c.5525T>C (p.Leu1842Pro)
c.5468T>C (p.Leu1823Pro)
c.5444T>C (p.Leu1815Pro)
c.5399T>C (p.Leu1800Pro)
3g.53801290T>GCA353250896CACNA1Dc.5333T>G (p.Leu1778Arg)
n.2272T>G
n.708T>G
c.5273T>G (p.Leu1758Arg)
c.5228T>G (p.Leu1743Arg)
c.1394T>G
n.629T>G
n.700T>G
c.5300T>G (p.Leu1767Arg)
n.27T>G
c.4352T>G (p.Leu1451Arg)
c.5528T>G (p.Leu1843Arg)
c.5417T>G (p.Leu1806Arg)
c.5339T>G (p.Leu1780Arg)
c.4991T>G (p.Leu1664Arg)
c.4616T>G (p.Leu1539Arg)
c.5423T>G (p.Leu1808Arg)
c.5525T>G (p.Leu1842Arg)
c.5468T>G (p.Leu1823Arg)
c.5444T>G (p.Leu1815Arg)
c.5399T>G (p.Leu1800Arg)
3g.53801291C>ACA433896170CACNA1Dc.5334C>A (p.Leu1778=)
n.2273C>A
n.709C>A
c.5274C>A (p.Leu1758=)
c.5229C>A (p.Leu1743=)
c.1395C>A
n.630C>A
n.701C>A
c.5301C>A (p.Leu1767=)
n.28C>A
c.4353C>A (p.Leu1451=)
c.5529C>A (p.Leu1843=)
c.5418C>A (p.Leu1806=)
c.5340C>A (p.Leu1780=)
c.4992C>A (p.Leu1664=)
c.4617C>A (p.Leu1539=)
c.5424C>A (p.Leu1808=)
c.5526C>A (p.Leu1842=)
c.5469C>A (p.Leu1823=)
c.5445C>A (p.Leu1815=)
c.5400C>A (p.Leu1800=)
3g.53801291C>GCA433896172CACNA1Dc.5334C>G (p.Leu1778=)
n.2273C>G
n.709C>G
c.5274C>G (p.Leu1758=)
c.5229C>G (p.Leu1743=)
c.1395C>G
n.630C>G
n.701C>G
c.5301C>G (p.Leu1767=)
n.28C>G
c.4353C>G (p.Leu1451=)
c.5529C>G (p.Leu1843=)
c.5418C>G (p.Leu1806=)
c.5340C>G (p.Leu1780=)
c.4992C>G (p.Leu1664=)
c.4617C>G (p.Leu1539=)
c.5424C>G (p.Leu1808=)
c.5526C>G (p.Leu1842=)
c.5469C>G (p.Leu1823=)
c.5445C>G (p.Leu1815=)
c.5400C>G (p.Leu1800=)
3g.53801291C>TCA433896171CACNA1Dc.5334C>T (p.Leu1778=)
n.2273C>T
n.709C>T
c.5274C>T (p.Leu1758=)
c.5229C>T (p.Leu1743=)
c.1395C>T
n.630C>T
n.701C>T
c.5301C>T (p.Leu1767=)
n.28C>T
c.4353C>T (p.Leu1451=)
c.5529C>T (p.Leu1843=)
c.5418C>T (p.Leu1806=)
c.5340C>T (p.Leu1780=)
c.4992C>T (p.Leu1664=)
c.4617C>T (p.Leu1539=)
c.5424C>T (p.Leu1808=)
c.5526C>T (p.Leu1842=)
c.5469C>T (p.Leu1823=)
c.5445C>T (p.Leu1815=)
c.5400C>T (p.Leu1800=)
3g.53801292A>CCA353250898CACNA1Dc.5335A>C (p.Asn1779His)
n.2274A>C
n.710A>C
c.5275A>C (p.Asn1759His)
c.5230A>C (p.Asn1744His)
c.1396A>C
n.631A>C
n.702A>C
c.5302A>C (p.Asn1768His)
n.29A>C
c.4354A>C (p.Asn1452His)
c.5530A>C (p.Asn1844His)
c.5419A>C (p.Asn1807His)
c.5341A>C (p.Asn1781His)
c.4993A>C (p.Asn1665His)
c.4618A>C (p.Asn1540His)
c.5425A>C (p.Asn1809His)
c.5527A>C (p.Asn1843His)
c.5470A>C (p.Asn1824His)
c.5446A>C (p.Asn1816His)
c.5401A>C (p.Asn1801His)
 gnomAD v4
3g.53801292A>GCA353250900CACNA1Dc.5335A>G (p.Asn1779Asp)
n.2274A>G
n.710A>G
c.5275A>G (p.Asn1759Asp)
c.5230A>G (p.Asn1744Asp)
c.1396A>G
n.631A>G
n.702A>G
c.5302A>G (p.Asn1768Asp)
n.29A>G
c.4354A>G (p.Asn1452Asp)
c.5530A>G (p.Asn1844Asp)
c.5419A>G (p.Asn1807Asp)
c.5341A>G (p.Asn1781Asp)
c.4993A>G (p.Asn1665Asp)
c.4618A>G (p.Asn1540Asp)
c.5425A>G (p.Asn1809Asp)
c.5527A>G (p.Asn1843Asp)
c.5470A>G (p.Asn1824Asp)
c.5446A>G (p.Asn1816Asp)
c.5401A>G (p.Asn1801Asp)
3g.53801292A>TCA353250902CACNA1Dc.5335A>T (p.Asn1779Tyr)
n.2274A>T
n.710A>T
c.5275A>T (p.Asn1759Tyr)
c.5230A>T (p.Asn1744Tyr)
c.1396A>T
n.631A>T
n.702A>T
c.5302A>T (p.Asn1768Tyr)
n.29A>T
c.4354A>T (p.Asn1452Tyr)
c.5530A>T (p.Asn1844Tyr)
c.5419A>T (p.Asn1807Tyr)
c.5341A>T (p.Asn1781Tyr)
c.4993A>T (p.Asn1665Tyr)
c.4618A>T (p.Asn1540Tyr)
c.5425A>T (p.Asn1809Tyr)
c.5527A>T (p.Asn1843Tyr)
c.5470A>T (p.Asn1824Tyr)
c.5446A>T (p.Asn1816Tyr)
c.5401A>T (p.Asn1801Tyr)
3g.53801293A=CA1365484189CACNA1Dc.5336A= (p.Asn1779=)
n.2275A=
n.711A=
c.5276A= (p.Asn1759=)
c.5231A= (p.Asn1744=)
c.1397A=
n.632A=
n.703A=
c.5303A= (p.Asn1768=)
n.30A=
c.4355A= (p.Asn1452=)
c.5531A= (p.Asn1844=)
c.5420A= (p.Asn1807=)
c.5342A= (p.Asn1781=)
c.4994A= (p.Asn1665=)
c.4619A= (p.Asn1540=)
c.5426A= (p.Asn1809=)
c.5528A= (p.Asn1843=)
c.5471A= (p.Asn1824=)
c.5447A= (p.Asn1816=)
c.5402A= (p.Asn1801=)
3g.53801293A>CCA353250906CACNA1Dc.5336A>C (p.Asn1779Thr)
n.2275A>C
n.711A>C
c.5276A>C (p.Asn1759Thr)
c.5231A>C (p.Asn1744Thr)
c.1397A>C
n.632A>C
n.703A>C
c.5303A>C (p.Asn1768Thr)
n.30A>C
c.4355A>C (p.Asn1452Thr)
c.5531A>C (p.Asn1844Thr)
c.5420A>C (p.Asn1807Thr)
c.5342A>C (p.Asn1781Thr)
c.4994A>C (p.Asn1665Thr)
c.4619A>C (p.Asn1540Thr)
c.5426A>C (p.Asn1809Thr)
c.5528A>C (p.Asn1843Thr)
c.5471A>C (p.Asn1824Thr)
c.5447A>C (p.Asn1816Thr)
c.5402A>C (p.Asn1801Thr)
3g.53801293A>GCA353250908CACNA1Dc.5336A>G (p.Asn1779Ser)
n.2275A>G
n.711A>G
c.5276A>G (p.Asn1759Ser)
c.5231A>G (p.Asn1744Ser)
c.1397A>G
n.632A>G
n.703A>G
c.5303A>G (p.Asn1768Ser)
n.30A>G
c.4355A>G (p.Asn1452Ser)
c.5531A>G (p.Asn1844Ser)
c.5420A>G (p.Asn1807Ser)
c.5342A>G (p.Asn1781Ser)
c.4994A>G (p.Asn1665Ser)
c.4619A>G (p.Asn1540Ser)
c.5426A>G (p.Asn1809Ser)
c.5528A>G (p.Asn1843Ser)
c.5471A>G (p.Asn1824Ser)
c.5447A>G (p.Asn1816Ser)
c.5402A>G (p.Asn1801Ser)
 ClinVar dbSNP gnomAD v4
3g.53801293A>TCA353250904CACNA1Dc.5336A>T (p.Asn1779Ile)
n.2275A>T
n.711A>T
c.5276A>T (p.Asn1759Ile)
c.5231A>T (p.Asn1744Ile)
c.1397A>T
n.632A>T
n.703A>T
c.5303A>T (p.Asn1768Ile)
n.30A>T
c.4355A>T (p.Asn1452Ile)
c.5531A>T (p.Asn1844Ile)
c.5420A>T (p.Asn1807Ile)
c.5342A>T (p.Asn1781Ile)
c.4994A>T (p.Asn1665Ile)
c.4619A>T (p.Asn1540Ile)
c.5426A>T (p.Asn1809Ile)
c.5528A>T (p.Asn1843Ile)
c.5471A>T (p.Asn1824Ile)
c.5447A>T (p.Asn1816Ile)
c.5402A>T (p.Asn1801Ile)
3g.53801294T>ACA353250910CACNA1Dc.5337T>A (p.Asn1779Lys)
n.2276T>A
n.712T>A
c.5277T>A (p.Asn1759Lys)
c.5232T>A (p.Asn1744Lys)
c.1398T>A
n.633T>A
n.704T>A
c.5304T>A (p.Asn1768Lys)
n.31T>A
c.4356T>A (p.Asn1452Lys)
c.5532T>A (p.Asn1844Lys)
c.5421T>A (p.Asn1807Lys)
c.5343T>A (p.Asn1781Lys)
c.4995T>A (p.Asn1665Lys)
c.4620T>A (p.Asn1540Lys)
c.5427T>A (p.Asn1809Lys)
c.5529T>A (p.Asn1843Lys)
c.5472T>A (p.Asn1824Lys)
c.5448T>A (p.Asn1816Lys)
c.5403T>A (p.Asn1801Lys)
3g.53801294T>CCA433896173CACNA1Dc.5337T>C (p.Asn1779=)
n.2276T>C
n.712T>C
c.5277T>C (p.Asn1759=)
c.5232T>C (p.Asn1744=)
c.1398T>C
n.633T>C
n.704T>C
c.5304T>C (p.Asn1768=)
n.31T>C
c.4356T>C (p.Asn1452=)
c.5532T>C (p.Asn1844=)
c.5421T>C (p.Asn1807=)
c.5343T>C (p.Asn1781=)
c.4995T>C (p.Asn1665=)
c.4620T>C (p.Asn1540=)
c.5427T>C (p.Asn1809=)
c.5529T>C (p.Asn1843=)
c.5472T>C (p.Asn1824=)
c.5448T>C (p.Asn1816=)
c.5403T>C (p.Asn1801=)
3g.53801294T>GCA353250912CACNA1Dc.5337T>G (p.Asn1779Lys)
n.2276T>G
n.712T>G
c.5277T>G (p.Asn1759Lys)
c.5232T>G (p.Asn1744Lys)
c.1398T>G
n.633T>G
n.704T>G
c.5304T>G (p.Asn1768Lys)
n.31T>G
c.4356T>G (p.Asn1452Lys)
c.5532T>G (p.Asn1844Lys)
c.5421T>G (p.Asn1807Lys)
c.5343T>G (p.Asn1781Lys)
c.4995T>G (p.Asn1665Lys)
c.4620T>G (p.Asn1540Lys)
c.5427T>G (p.Asn1809Lys)
c.5529T>G (p.Asn1843Lys)
c.5472T>G (p.Asn1824Lys)
c.5448T>G (p.Asn1816Lys)
c.5403T>G (p.Asn1801Lys)
3g.53801295A>CCA353250914CACNA1Dc.5338A>C (p.Asn1780His)
n.2277A>C
n.713A>C
c.5278A>C (p.Asn1760His)
c.5233A>C (p.Asn1745His)
c.1399A>C
n.634A>C
n.705A>C
c.5305A>C (p.Asn1769His)
n.32A>C
c.4357A>C (p.Asn1453His)
c.5533A>C (p.Asn1845His)
c.5422A>C (p.Asn1808His)
c.5344A>C (p.Asn1782His)
c.4996A>C (p.Asn1666His)
c.4621A>C (p.Asn1541His)
c.5428A>C (p.Asn1810His)
c.5530A>C (p.Asn1844His)
c.5473A>C (p.Asn1825His)
c.5449A>C (p.Asn1817His)
c.5404A>C (p.Asn1802His)
3g.53801295A>GCA353250916CACNA1Dc.5338A>G (p.Asn1780Asp)
n.2277A>G
n.713A>G
c.5278A>G (p.Asn1760Asp)
c.5233A>G (p.Asn1745Asp)
c.1399A>G
n.634A>G
n.705A>G
c.5305A>G (p.Asn1769Asp)
n.32A>G
c.4357A>G (p.Asn1453Asp)
c.5533A>G (p.Asn1845Asp)
c.5422A>G (p.Asn1808Asp)
c.5344A>G (p.Asn1782Asp)
c.4996A>G (p.Asn1666Asp)
c.4621A>G (p.Asn1541Asp)
c.5428A>G (p.Asn1810Asp)
c.5530A>G (p.Asn1844Asp)
c.5473A>G (p.Asn1825Asp)
c.5449A>G (p.Asn1817Asp)
c.5404A>G (p.Asn1802Asp)
3g.53801295A>TCA353250918CACNA1Dc.5338A>T (p.Asn1780Tyr)
n.2277A>T
n.713A>T
c.5278A>T (p.Asn1760Tyr)
c.5233A>T (p.Asn1745Tyr)
c.1399A>T
n.634A>T
n.705A>T
c.5305A>T (p.Asn1769Tyr)
n.32A>T
c.4357A>T (p.Asn1453Tyr)
c.5533A>T (p.Asn1845Tyr)
c.5422A>T (p.Asn1808Tyr)
c.5344A>T (p.Asn1782Tyr)
c.4996A>T (p.Asn1666Tyr)
c.4621A>T (p.Asn1541Tyr)
c.5428A>T (p.Asn1810Tyr)
c.5530A>T (p.Asn1844Tyr)
c.5473A>T (p.Asn1825Tyr)
c.5449A>T (p.Asn1817Tyr)
c.5404A>T (p.Asn1802Tyr)
3g.53801296A>CCA353250920CACNA1Dc.5339A>C (p.Asn1780Thr)
n.2278A>C
n.714A>C
c.5279A>C (p.Asn1760Thr)
c.5234A>C (p.Asn1745Thr)
c.1400A>C
n.635A>C
n.706A>C
c.5306A>C (p.Asn1769Thr)
n.33A>C
c.4358A>C (p.Asn1453Thr)
c.5534A>C (p.Asn1845Thr)
c.5423A>C (p.Asn1808Thr)
c.5345A>C (p.Asn1782Thr)
c.4997A>C (p.Asn1666Thr)
c.4622A>C (p.Asn1541Thr)
c.5429A>C (p.Asn1810Thr)
c.5531A>C (p.Asn1844Thr)
c.5474A>C (p.Asn1825Thr)
c.5450A>C (p.Asn1817Thr)
c.5405A>C (p.Asn1802Thr)
3g.53801296A>GCA353250922CACNA1Dc.5339A>G (p.Asn1780Ser)
n.2278A>G
n.714A>G
c.5279A>G (p.Asn1760Ser)
c.5234A>G (p.Asn1745Ser)
c.1400A>G
n.635A>G
n.706A>G
c.5306A>G (p.Asn1769Ser)
n.33A>G
c.4358A>G (p.Asn1453Ser)
c.5534A>G (p.Asn1845Ser)
c.5423A>G (p.Asn1808Ser)
c.5345A>G (p.Asn1782Ser)
c.4997A>G (p.Asn1666Ser)
c.4622A>G (p.Asn1541Ser)
c.5429A>G (p.Asn1810Ser)
c.5531A>G (p.Asn1844Ser)
c.5474A>G (p.Asn1825Ser)
c.5450A>G (p.Asn1817Ser)
c.5405A>G (p.Asn1802Ser)
3g.53801296A>TCA353250924CACNA1Dc.5339A>T (p.Asn1780Ile)
n.2278A>T
n.714A>T
c.5279A>T (p.Asn1760Ile)
c.5234A>T (p.Asn1745Ile)
c.1400A>T
n.635A>T
n.706A>T
c.5306A>T (p.Asn1769Ile)
n.33A>T
c.4358A>T (p.Asn1453Ile)
c.5534A>T (p.Asn1845Ile)
c.5423A>T (p.Asn1808Ile)
c.5345A>T (p.Asn1782Ile)
c.4997A>T (p.Asn1666Ile)
c.4622A>T (p.Asn1541Ile)
c.5429A>T (p.Asn1810Ile)
c.5531A>T (p.Asn1844Ile)
c.5474A>T (p.Asn1825Ile)
c.5450A>T (p.Asn1817Ile)
c.5405A>T (p.Asn1802Ile)
3g.53801297T>ACA353250926CACNA1Dc.5340T>A (p.Asn1780Lys)
n.2279T>A
n.715T>A
c.5280T>A (p.Asn1760Lys)
c.5235T>A (p.Asn1745Lys)
c.1401T>A
n.636T>A
n.707T>A
c.5307T>A (p.Asn1769Lys)
n.34T>A
c.4359T>A (p.Asn1453Lys)
c.5535T>A (p.Asn1845Lys)
c.5424T>A (p.Asn1808Lys)
c.5346T>A (p.Asn1782Lys)
c.4998T>A (p.Asn1666Lys)
c.4623T>A (p.Asn1541Lys)
c.5430T>A (p.Asn1810Lys)
c.5532T>A (p.Asn1844Lys)
c.5475T>A (p.Asn1825Lys)
c.5451T>A (p.Asn1817Lys)
c.5406T>A (p.Asn1802Lys)
3g.53801297T>CCA433896174CACNA1Dc.5340T>C (p.Asn1780=)
n.2279T>C
n.715T>C
c.5280T>C (p.Asn1760=)
c.5235T>C (p.Asn1745=)
c.1401T>C
n.636T>C
n.707T>C
c.5307T>C (p.Asn1769=)
n.34T>C
c.4359T>C (p.Asn1453=)
c.5535T>C (p.Asn1845=)
c.5424T>C (p.Asn1808=)
c.5346T>C (p.Asn1782=)
c.4998T>C (p.Asn1666=)
c.4623T>C (p.Asn1541=)
c.5430T>C (p.Asn1810=)
c.5532T>C (p.Asn1844=)
c.5475T>C (p.Asn1825=)
c.5451T>C (p.Asn1817=)
c.5406T>C (p.Asn1802=)
3g.53801297T>GCA353250928CACNA1Dc.5340T>G (p.Asn1780Lys)
n.2279T>G
n.715T>G
c.5280T>G (p.Asn1760Lys)
c.5235T>G (p.Asn1745Lys)
c.1401T>G
n.636T>G
n.707T>G
c.5307T>G (p.Asn1769Lys)
n.34T>G
c.4359T>G (p.Asn1453Lys)
c.5535T>G (p.Asn1845Lys)
c.5424T>G (p.Asn1808Lys)
c.5346T>G (p.Asn1782Lys)
c.4998T>G (p.Asn1666Lys)
c.4623T>G (p.Asn1541Lys)
c.5430T>G (p.Asn1810Lys)
c.5532T>G (p.Asn1844Lys)
c.5475T>G (p.Asn1825Lys)
c.5451T>G (p.Asn1817Lys)
c.5406T>G (p.Asn1802Lys)
3g.53801298G>ACA353250931CACNA1Dc.5341G>A (p.Ala1781Thr)
n.2280G>A
n.716G>A
c.5281G>A (p.Ala1761Thr)
c.5236G>A (p.Ala1746Thr)
c.1402G>A
n.637G>A
n.708G>A
c.5308G>A (p.Ala1770Thr)
n.35G>A
c.4360G>A (p.Ala1454Thr)
c.5536G>A (p.Ala1846Thr)
c.5425G>A (p.Ala1809Thr)
c.5347G>A (p.Ala1783Thr)
c.4999G>A (p.Ala1667Thr)
c.4624G>A (p.Ala1542Thr)
c.5431G>A (p.Ala1811Thr)
c.5533G>A (p.Ala1845Thr)
c.5476G>A (p.Ala1826Thr)
c.5452G>A (p.Ala1818Thr)
c.5407G>A (p.Ala1803Thr)
 dbSNP
3g.53801298G>CCA353250932CACNA1Dc.5341G>C (p.Ala1781Pro)
n.2280G>C
n.716G>C
c.5281G>C (p.Ala1761Pro)
c.5236G>C (p.Ala1746Pro)
c.1402G>C
n.637G>C
n.708G>C
c.5308G>C (p.Ala1770Pro)
n.35G>C
c.4360G>C (p.Ala1454Pro)
c.5536G>C (p.Ala1846Pro)
c.5425G>C (p.Ala1809Pro)
c.5347G>C (p.Ala1783Pro)
c.4999G>C (p.Ala1667Pro)
c.4624G>C (p.Ala1542Pro)
c.5431G>C (p.Ala1811Pro)
c.5533G>C (p.Ala1845Pro)
c.5476G>C (p.Ala1826Pro)
c.5452G>C (p.Ala1818Pro)
c.5407G>C (p.Ala1803Pro)
3g.53801298G=CA1365484190CACNA1Dc.5341G= (p.Ala1781=)
n.2280G=
n.716G=
c.5281G= (p.Ala1761=)
c.5236G= (p.Ala1746=)
c.1402G=
n.637G=
n.708G=
c.5308G= (p.Ala1770=)
n.35G=
c.4360G= (p.Ala1454=)
c.5536G= (p.Ala1846=)
c.5425G= (p.Ala1809=)
c.5347G= (p.Ala1783=)
c.4999G= (p.Ala1667=)
c.4624G= (p.Ala1542=)
c.5431G= (p.Ala1811=)
c.5533G= (p.Ala1845=)
c.5476G= (p.Ala1826=)
c.5452G= (p.Ala1818=)
c.5407G= (p.Ala1803=)
3g.53801298G>TCA353250935CACNA1Dc.5341G>T (p.Ala1781Ser)
n.2280G>T
n.716G>T
c.5281G>T (p.Ala1761Ser)
c.5236G>T (p.Ala1746Ser)
c.1402G>T
n.637G>T
n.708G>T
c.5308G>T (p.Ala1770Ser)
n.35G>T
c.4360G>T (p.Ala1454Ser)
c.5536G>T (p.Ala1846Ser)
c.5425G>T (p.Ala1809Ser)
c.5347G>T (p.Ala1783Ser)
c.4999G>T (p.Ala1667Ser)
c.4624G>T (p.Ala1542Ser)
c.5431G>T (p.Ala1811Ser)
c.5533G>T (p.Ala1845Ser)
c.5476G>T (p.Ala1826Ser)
c.5452G>T (p.Ala1818Ser)
c.5407G>T (p.Ala1803Ser)
3g.53801299C>ACA353250941CACNA1Dc.5342C>A (p.Ala1781Asp)
n.2281C>A
n.717C>A
c.5282C>A (p.Ala1761Asp)
c.5237C>A (p.Ala1746Asp)
c.1403C>A
n.638C>A
n.709C>A
c.5309C>A (p.Ala1770Asp)
n.36C>A
c.4361C>A (p.Ala1454Asp)
c.5537C>A (p.Ala1846Asp)
c.5426C>A (p.Ala1809Asp)
c.5348C>A (p.Ala1783Asp)
c.5000C>A (p.Ala1667Asp)
c.4625C>A (p.Ala1542Asp)
c.5432C>A (p.Ala1811Asp)
c.5534C>A (p.Ala1845Asp)
c.5477C>A (p.Ala1826Asp)
c.5453C>A (p.Ala1818Asp)
c.5408C>A (p.Ala1803Asp)
3g.53801299C>GCA353250937CACNA1Dc.5342C>G (p.Ala1781Gly)
n.2281C>G
n.717C>G
c.5282C>G (p.Ala1761Gly)
c.5237C>G (p.Ala1746Gly)
c.1403C>G
n.638C>G
n.709C>G
c.5309C>G (p.Ala1770Gly)
n.36C>G
c.4361C>G (p.Ala1454Gly)
c.5537C>G (p.Ala1846Gly)
c.5426C>G (p.Ala1809Gly)
c.5348C>G (p.Ala1783Gly)
c.5000C>G (p.Ala1667Gly)
c.4625C>G (p.Ala1542Gly)
c.5432C>G (p.Ala1811Gly)
c.5534C>G (p.Ala1845Gly)
c.5477C>G (p.Ala1826Gly)
c.5453C>G (p.Ala1818Gly)
c.5408C>G (p.Ala1803Gly)
3g.53801299C>TCA353250939CACNA1Dc.5342C>T (p.Ala1781Val)
n.2281C>T
n.717C>T
c.5282C>T (p.Ala1761Val)
c.5237C>T (p.Ala1746Val)
c.1403C>T
n.638C>T
n.709C>T
c.5309C>T (p.Ala1770Val)
n.36C>T
c.4361C>T (p.Ala1454Val)
c.5537C>T (p.Ala1846Val)
c.5426C>T (p.Ala1809Val)
c.5348C>T (p.Ala1783Val)
c.5000C>T (p.Ala1667Val)
c.4625C>T (p.Ala1542Val)
c.5432C>T (p.Ala1811Val)
c.5534C>T (p.Ala1845Val)
c.5477C>T (p.Ala1826Val)
c.5453C>T (p.Ala1818Val)
c.5408C>T (p.Ala1803Val)
3g.53801300C>ACA433896175CACNA1Dc.5343C>A (p.Ala1781=)
n.2282C>A
n.718C>A
c.5283C>A (p.Ala1761=)
c.5238C>A (p.Ala1746=)
c.1404C>A
n.639C>A
n.710C>A
c.5310C>A (p.Ala1770=)
n.37C>A
c.4362C>A (p.Ala1454=)
c.5538C>A (p.Ala1846=)
c.5427C>A (p.Ala1809=)
c.5349C>A (p.Ala1783=)
c.5001C>A (p.Ala1667=)
c.4626C>A (p.Ala1542=)
c.5433C>A (p.Ala1811=)
c.5535C>A (p.Ala1845=)
c.5478C>A (p.Ala1826=)
c.5454C>A (p.Ala1818=)
c.5409C>A (p.Ala1803=)
3g.53801300C=CA1365484191CACNA1Dc.5343C= (p.Ala1781=)
n.2282C=
n.718C=
c.5283C= (p.Ala1761=)
c.5238C= (p.Ala1746=)
c.1404C=
n.639C=
n.710C=
c.5310C= (p.Ala1770=)
n.37C=
c.4362C= (p.Ala1454=)
c.5538C= (p.Ala1846=)
c.5427C= (p.Ala1809=)
c.5349C= (p.Ala1783=)
c.5001C= (p.Ala1667=)
c.4626C= (p.Ala1542=)
c.5433C= (p.Ala1811=)
c.5535C= (p.Ala1845=)
c.5478C= (p.Ala1826=)
c.5454C= (p.Ala1818=)
c.5409C= (p.Ala1803=)
3g.53801300C>GCA433896176CACNA1Dc.5343C>G (p.Ala1781=)
n.2282C>G
n.718C>G
c.5283C>G (p.Ala1761=)
c.5238C>G (p.Ala1746=)
c.1404C>G
n.639C>G
n.710C>G
c.5310C>G (p.Ala1770=)
n.37C>G
c.4362C>G (p.Ala1454=)
c.5538C>G (p.Ala1846=)
c.5427C>G (p.Ala1809=)
c.5349C>G (p.Ala1783=)
c.5001C>G (p.Ala1667=)
c.4626C>G (p.Ala1542=)
c.5433C>G (p.Ala1811=)
c.5535C>G (p.Ala1845=)
c.5478C>G (p.Ala1826=)
c.5454C>G (p.Ala1818=)
c.5409C>G (p.Ala1803=)
3g.53801300C>TCA2455093CACNA1Dc.5343C>T (p.Ala1781=)
n.2282C>T
n.718C>T
c.5283C>T (p.Ala1761=)
c.5238C>T (p.Ala1746=)
c.1404C>T
n.639C>T
n.710C>T
c.5310C>T (p.Ala1770=)
n.37C>T
c.4362C>T (p.Ala1454=)
c.5538C>T (p.Ala1846=)
c.5427C>T (p.Ala1809=)
c.5349C>T (p.Ala1783=)
c.5001C>T (p.Ala1667=)
c.4626C>T (p.Ala1542=)
c.5433C>T (p.Ala1811=)
c.5535C>T (p.Ala1845=)
c.5478C>T (p.Ala1826=)
c.5454C>T (p.Ala1818=)
c.5409C>T (p.Ala1803=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.53801301A=CA1365484192CACNA1Dc.5344A= (p.Asn1782=)
n.2283A=
n.719A=
c.5284A= (p.Asn1762=)
c.5239A= (p.Asn1747=)
c.1405A=
n.640A=
n.711A=
c.5311A= (p.Asn1771=)
n.38A=
c.4363A= (p.Asn1455=)
c.5539A= (p.Asn1847=)
c.5428A= (p.Asn1810=)
c.5350A= (p.Asn1784=)
c.5002A= (p.Asn1668=)
c.4627A= (p.Asn1543=)
c.5434A= (p.Asn1812=)
c.5536A= (p.Asn1846=)
c.5479A= (p.Asn1827=)
c.5455A= (p.Asn1819=)
c.5410A= (p.Asn1804=)
3g.53801301A>CCA353250945CACNA1Dc.5344A>C (p.Asn1782His)
n.2283A>C
n.719A>C
c.5284A>C (p.Asn1762His)
c.5239A>C (p.Asn1747His)
c.1405A>C
n.640A>C
n.711A>C
c.5311A>C (p.Asn1771His)
n.38A>C
c.4363A>C (p.Asn1455His)
c.5539A>C (p.Asn1847His)
c.5428A>C (p.Asn1810His)
c.5350A>C (p.Asn1784His)
c.5002A>C (p.Asn1668His)
c.4627A>C (p.Asn1543His)
c.5434A>C (p.Asn1812His)
c.5536A>C (p.Asn1846His)
c.5479A>C (p.Asn1827His)
c.5455A>C (p.Asn1819His)
c.5410A>C (p.Asn1804His)
3g.53801301A>GCA353250946CACNA1Dc.5344A>G (p.Asn1782Asp)
n.2283A>G
n.719A>G
c.5284A>G (p.Asn1762Asp)
c.5239A>G (p.Asn1747Asp)
c.1405A>G
n.640A>G
n.711A>G
c.5311A>G (p.Asn1771Asp)
n.38A>G
c.4363A>G (p.Asn1455Asp)
c.5539A>G (p.Asn1847Asp)
c.5428A>G (p.Asn1810Asp)
c.5350A>G (p.Asn1784Asp)
c.5002A>G (p.Asn1668Asp)
c.4627A>G (p.Asn1543Asp)
c.5434A>G (p.Asn1812Asp)
c.5536A>G (p.Asn1846Asp)
c.5479A>G (p.Asn1827Asp)
c.5455A>G (p.Asn1819Asp)
c.5410A>G (p.Asn1804Asp)
 dbSNP gnomAD v2 gnomAD v4
3g.53801301A>TCA353250947CACNA1Dc.5344A>T (p.Asn1782Tyr)
n.2283A>T
n.719A>T
c.5284A>T (p.Asn1762Tyr)
c.5239A>T (p.Asn1747Tyr)
c.1405A>T
n.640A>T
n.711A>T
c.5311A>T (p.Asn1771Tyr)
n.38A>T
c.4363A>T (p.Asn1455Tyr)
c.5539A>T (p.Asn1847Tyr)
c.5428A>T (p.Asn1810Tyr)
c.5350A>T (p.Asn1784Tyr)
c.5002A>T (p.Asn1668Tyr)
c.4627A>T (p.Asn1543Tyr)
c.5434A>T (p.Asn1812Tyr)
c.5536A>T (p.Asn1846Tyr)
c.5479A>T (p.Asn1827Tyr)
c.5455A>T (p.Asn1819Tyr)
c.5410A>T (p.Asn1804Tyr)
3g.53801302A=CA1365484193CACNA1Dc.5345A= (p.Asn1782=)
n.2284A=
n.720A=
c.5285A= (p.Asn1762=)
c.5240A= (p.Asn1747=)
c.1406A=
n.641A=
n.712A=
c.5312A= (p.Asn1771=)
n.39A=
c.4364A= (p.Asn1455=)
c.5540A= (p.Asn1847=)
c.5429A= (p.Asn1810=)
c.5351A= (p.Asn1784=)
c.5003A= (p.Asn1668=)
c.4628A= (p.Asn1543=)
c.5435A= (p.Asn1812=)
c.5537A= (p.Asn1846=)
c.5480A= (p.Asn1827=)
c.5456A= (p.Asn1819=)
c.5411A= (p.Asn1804=)
3g.53801302A>CCA353250950CACNA1Dc.5345A>C (p.Asn1782Thr)
n.2284A>C
n.720A>C
c.5285A>C (p.Asn1762Thr)
c.5240A>C (p.Asn1747Thr)
c.1406A>C
n.641A>C
n.712A>C
c.5312A>C (p.Asn1771Thr)
n.39A>C
c.4364A>C (p.Asn1455Thr)
c.5540A>C (p.Asn1847Thr)
c.5429A>C (p.Asn1810Thr)
c.5351A>C (p.Asn1784Thr)
c.5003A>C (p.Asn1668Thr)
c.4628A>C (p.Asn1543Thr)
c.5435A>C (p.Asn1812Thr)
c.5537A>C (p.Asn1846Thr)
c.5480A>C (p.Asn1827Thr)
c.5456A>C (p.Asn1819Thr)
c.5411A>C (p.Asn1804Thr)
3g.53801302A>GCA2455094CACNA1Dc.5345A>G (p.Asn1782Ser)
n.2284A>G
n.720A>G
c.5285A>G (p.Asn1762Ser)
c.5240A>G (p.Asn1747Ser)
c.1406A>G
n.641A>G
n.712A>G
c.5312A>G (p.Asn1771Ser)
n.39A>G
c.4364A>G (p.Asn1455Ser)
c.5540A>G (p.Asn1847Ser)
c.5429A>G (p.Asn1810Ser)
c.5351A>G (p.Asn1784Ser)
c.5003A>G (p.Asn1668Ser)
c.4628A>G (p.Asn1543Ser)
c.5435A>G (p.Asn1812Ser)
c.5537A>G (p.Asn1846Ser)
c.5480A>G (p.Asn1827Ser)
c.5456A>G (p.Asn1819Ser)
c.5411A>G (p.Asn1804Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.53801302A>TCA353250953CACNA1Dc.5345A>T (p.Asn1782Ile)
n.2284A>T
n.720A>T
c.5285A>T (p.Asn1762Ile)
c.5240A>T (p.Asn1747Ile)
c.1406A>T
n.641A>T
n.712A>T
c.5312A>T (p.Asn1771Ile)
n.39A>T
c.4364A>T (p.Asn1455Ile)
c.5540A>T (p.Asn1847Ile)
c.5429A>T (p.Asn1810Ile)
c.5351A>T (p.Asn1784Ile)
c.5003A>T (p.Asn1668Ile)
c.4628A>T (p.Asn1543Ile)
c.5435A>T (p.Asn1812Ile)
c.5537A>T (p.Asn1846Ile)
c.5480A>T (p.Asn1827Ile)
c.5456A>T (p.Asn1819Ile)
c.5411A>T (p.Asn1804Ile)
3g.53801303T>ACA353250955CACNA1Dc.5346T>A (p.Asn1782Lys)
n.2285T>A
n.721T>A
c.5286T>A (p.Asn1762Lys)
c.5241T>A (p.Asn1747Lys)
c.1407T>A
n.642T>A
n.713T>A
c.5313T>A (p.Asn1771Lys)
n.40T>A
c.4365T>A (p.Asn1455Lys)
c.5541T>A (p.Asn1847Lys)
c.5430T>A (p.Asn1810Lys)
c.5352T>A (p.Asn1784Lys)
c.5004T>A (p.Asn1668Lys)
c.4629T>A (p.Asn1543Lys)
c.5436T>A (p.Asn1812Lys)
c.5538T>A (p.Asn1846Lys)
c.5481T>A (p.Asn1827Lys)
c.5457T>A (p.Asn1819Lys)
c.5412T>A (p.Asn1804Lys)
3g.53801303T>CCA433896177CACNA1Dc.5346T>C (p.Asn1782=)
n.2285T>C
n.721T>C
c.5286T>C (p.Asn1762=)
c.5241T>C (p.Asn1747=)
c.1407T>C
n.642T>C
n.713T>C
c.5313T>C (p.Asn1771=)
n.40T>C
c.4365T>C (p.Asn1455=)
c.5541T>C (p.Asn1847=)
c.5430T>C (p.Asn1810=)
c.5352T>C (p.Asn1784=)
c.5004T>C (p.Asn1668=)
c.4629T>C (p.Asn1543=)
c.5436T>C (p.Asn1812=)
c.5538T>C (p.Asn1846=)
c.5481T>C (p.Asn1827=)
c.5457T>C (p.Asn1819=)
c.5412T>C (p.Asn1804=)
3g.53801303T>GCA353250957CACNA1Dc.5346T>G (p.Asn1782Lys)
n.2285T>G
n.721T>G
c.5286T>G (p.Asn1762Lys)
c.5241T>G (p.Asn1747Lys)
c.1407T>G
n.642T>G
n.713T>G
c.5313T>G (p.Asn1771Lys)
n.40T>G
c.4365T>G (p.Asn1455Lys)
c.5541T>G (p.Asn1847Lys)
c.5430T>G (p.Asn1810Lys)
c.5352T>G (p.Asn1784Lys)
c.5004T>G (p.Asn1668Lys)
c.4629T>G (p.Asn1543Lys)
c.5436T>G (p.Asn1812Lys)
c.5538T>G (p.Asn1846Lys)
c.5481T>G (p.Asn1827Lys)
c.5457T>G (p.Asn1819Lys)
c.5412T>G (p.Asn1804Lys)
3g.53801304A=CA1365484194CACNA1Dc.5347A= (p.Met1783=)
n.2286A=
n.722A=
c.5287A= (p.Met1763=)
c.5242A= (p.Met1748=)
c.1408A=
n.643A=
n.714A=
c.5314A= (p.Met1772=)
n.41A=
c.4366A= (p.Met1456=)
c.5542A= (p.Met1848=)
c.5431A= (p.Met1811=)
c.5353A= (p.Met1785=)
c.5005A= (p.Met1669=)
c.4630A= (p.Met1544=)
c.5437A= (p.Met1813=)
c.5539A= (p.Met1847=)
c.5482A= (p.Met1828=)
c.5458A= (p.Met1820=)
c.5413A= (p.Met1805=)
3g.53801304A>CCA353250959CACNA1Dc.5347A>C (p.Met1783Leu)
n.2286A>C
n.722A>C
c.5287A>C (p.Met1763Leu)
c.5242A>C (p.Met1748Leu)
c.1408A>C
n.643A>C
n.714A>C
c.5314A>C (p.Met1772Leu)
n.41A>C
c.4366A>C (p.Met1456Leu)
c.5542A>C (p.Met1848Leu)
c.5431A>C (p.Met1811Leu)
c.5353A>C (p.Met1785Leu)
c.5005A>C (p.Met1669Leu)
c.4630A>C (p.Met1544Leu)
c.5437A>C (p.Met1813Leu)
c.5539A>C (p.Met1847Leu)
c.5482A>C (p.Met1828Leu)
c.5458A>C (p.Met1820Leu)
c.5413A>C (p.Met1805Leu)
3g.53801304A>GCA2455095CACNA1Dc.5347A>G (p.Met1783Val)
n.2286A>G
n.722A>G
c.5287A>G (p.Met1763Val)
c.5242A>G (p.Met1748Val)
c.1408A>G
n.643A>G
n.714A>G
c.5314A>G (p.Met1772Val)
n.41A>G
c.4366A>G (p.Met1456Val)
c.5542A>G (p.Met1848Val)
c.5431A>G (p.Met1811Val)
c.5353A>G (p.Met1785Val)
c.5005A>G (p.Met1669Val)
c.4630A>G (p.Met1544Val)
c.5437A>G (p.Met1813Val)
c.5539A>G (p.Met1847Val)
c.5482A>G (p.Met1828Val)
c.5458A>G (p.Met1820Val)
c.5413A>G (p.Met1805Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.53801304A>TCA353250962CACNA1Dc.5347A>T (p.Met1783Leu)
n.2286A>T
n.722A>T
c.5287A>T (p.Met1763Leu)
c.5242A>T (p.Met1748Leu)
c.1408A>T
n.643A>T
n.714A>T
c.5314A>T (p.Met1772Leu)
n.41A>T
c.4366A>T (p.Met1456Leu)
c.5542A>T (p.Met1848Leu)
c.5431A>T (p.Met1811Leu)
c.5353A>T (p.Met1785Leu)
c.5005A>T (p.Met1669Leu)
c.4630A>T (p.Met1544Leu)
c.5437A>T (p.Met1813Leu)
c.5539A>T (p.Met1847Leu)
c.5482A>T (p.Met1828Leu)
c.5458A>T (p.Met1820Leu)
c.5413A>T (p.Met1805Leu)
3g.53801305T>ACA353250965CACNA1Dc.5348T>A (p.Met1783Lys)
n.2287T>A
n.723T>A
c.5288T>A (p.Met1763Lys)
c.5243T>A (p.Met1748Lys)
c.1409T>A
n.644T>A
n.715T>A
c.5315T>A (p.Met1772Lys)
n.42T>A
c.4367T>A (p.Met1456Lys)
c.5543T>A (p.Met1848Lys)
c.5432T>A (p.Met1811Lys)
c.5354T>A (p.Met1785Lys)
c.5006T>A (p.Met1669Lys)
c.4631T>A (p.Met1544Lys)
c.5438T>A (p.Met1813Lys)
c.5540T>A (p.Met1847Lys)
c.5483T>A (p.Met1828Lys)
c.5459T>A (p.Met1820Lys)
c.5414T>A (p.Met1805Lys)
3g.53801305T>CCA353250968CACNA1Dc.5348T>C (p.Met1783Thr)
n.2287T>C
n.723T>C
c.5288T>C (p.Met1763Thr)
c.5243T>C (p.Met1748Thr)
c.1409T>C
n.644T>C
n.715T>C
c.5315T>C (p.Met1772Thr)
n.42T>C
c.4367T>C (p.Met1456Thr)
c.5543T>C (p.Met1848Thr)
c.5432T>C (p.Met1811Thr)
c.5354T>C (p.Met1785Thr)
c.5006T>C (p.Met1669Thr)
c.4631T>C (p.Met1544Thr)
c.5438T>C (p.Met1813Thr)
c.5540T>C (p.Met1847Thr)
c.5483T>C (p.Met1828Thr)
c.5459T>C (p.Met1820Thr)
c.5414T>C (p.Met1805Thr)
 dbSNP gnomAD v4
3g.53801305T>GCA353250967CACNA1Dc.5348T>G (p.Met1783Arg)
n.2287T>G
n.723T>G
c.5288T>G (p.Met1763Arg)
c.5243T>G (p.Met1748Arg)
c.1409T>G
n.644T>G
n.715T>G
c.5315T>G (p.Met1772Arg)
n.42T>G
c.4367T>G (p.Met1456Arg)
c.5543T>G (p.Met1848Arg)
c.5432T>G (p.Met1811Arg)
c.5354T>G (p.Met1785Arg)
c.5006T>G (p.Met1669Arg)
c.4631T>G (p.Met1544Arg)
c.5438T>G (p.Met1813Arg)
c.5540T>G (p.Met1847Arg)
c.5483T>G (p.Met1828Arg)
c.5459T>G (p.Met1820Arg)
c.5414T>G (p.Met1805Arg)
3g.53801305T=CA1365484195CACNA1Dc.5348T= (p.Met1783=)
n.2287T=
n.723T=
c.5288T= (p.Met1763=)
c.5243T= (p.Met1748=)
c.1409T=
n.644T=
n.715T=
c.5315T= (p.Met1772=)
n.42T=
c.4367T= (p.Met1456=)
c.5543T= (p.Met1848=)
c.5432T= (p.Met1811=)
c.5354T= (p.Met1785=)
c.5006T= (p.Met1669=)
c.4631T= (p.Met1544=)
c.5438T= (p.Met1813=)
c.5540T= (p.Met1847=)
c.5483T= (p.Met1828=)
c.5459T= (p.Met1820=)
c.5414T= (p.Met1805=)
3g.53801306G>ACA353250971CACNA1Dc.5349G>A (p.Met1783Ile)
n.2288G>A
n.724G>A
c.5289G>A (p.Met1763Ile)
c.5244G>A (p.Met1748Ile)
c.1410G>A
n.645G>A
n.716G>A
c.5316G>A (p.Met1772Ile)
n.43G>A
c.4368G>A (p.Met1456Ile)
c.5544G>A (p.Met1848Ile)
c.5433G>A (p.Met1811Ile)
c.5355G>A (p.Met1785Ile)
c.5007G>A (p.Met1669Ile)
c.4632G>A (p.Met1544Ile)
c.5439G>A (p.Met1813Ile)
c.5541G>A (p.Met1847Ile)
c.5484G>A (p.Met1828Ile)
c.5460G>A (p.Met1820Ile)
c.5415G>A (p.Met1805Ile)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.53801306G>CCA353250975CACNA1Dc.5349G>C (p.Met1783Ile)
n.2288G>C
n.724G>C
c.5289G>C (p.Met1763Ile)
c.5244G>C (p.Met1748Ile)
c.1410G>C
n.645G>C
n.716G>C
c.5316G>C (p.Met1772Ile)
n.43G>C
c.4368G>C (p.Met1456Ile)
c.5544G>C (p.Met1848Ile)
c.5433G>C (p.Met1811Ile)
c.5355G>C (p.Met1785Ile)
c.5007G>C (p.Met1669Ile)
c.4632G>C (p.Met1544Ile)
c.5439G>C (p.Met1813Ile)
c.5541G>C (p.Met1847Ile)
c.5484G>C (p.Met1828Ile)
c.5460G>C (p.Met1820Ile)
c.5415G>C (p.Met1805Ile)
3g.53801306G=CA1365484196CACNA1Dc.5349G= (p.Met1783=)
n.2288G=
n.724G=
c.5289G= (p.Met1763=)
c.5244G= (p.Met1748=)
c.1410G=
n.645G=
n.716G=
c.5316G= (p.Met1772=)
n.43G=
c.4368G= (p.Met1456=)
c.5544G= (p.Met1848=)
c.5433G= (p.Met1811=)
c.5355G= (p.Met1785=)
c.5007G= (p.Met1669=)
c.4632G= (p.Met1544=)
c.5439G= (p.Met1813=)
c.5541G= (p.Met1847=)
c.5484G= (p.Met1828=)
c.5460G= (p.Met1820=)
c.5415G= (p.Met1805=)
3g.53801306G>TCA353250973CACNA1Dc.5349G>T (p.Met1783Ile)
n.2288G>T
n.724G>T
c.5289G>T (p.Met1763Ile)
c.5244G>T (p.Met1748Ile)
c.1410G>T
n.645G>T
n.716G>T
c.5316G>T (p.Met1772Ile)
n.43G>T
c.4368G>T (p.Met1456Ile)
c.5544G>T (p.Met1848Ile)
c.5433G>T (p.Met1811Ile)
c.5355G>T (p.Met1785Ile)
c.5007G>T (p.Met1669Ile)
c.4632G>T (p.Met1544Ile)
c.5439G>T (p.Met1813Ile)
c.5541G>T (p.Met1847Ile)
c.5484G>T (p.Met1828Ile)
c.5460G>T (p.Met1820Ile)
c.5415G>T (p.Met1805Ile)
3g.53801307T>ACA353250978CACNA1Dc.5350T>A (p.Ser1784Thr)
n.2289T>A
n.725T>A
c.5290T>A (p.Ser1764Thr)
c.5245T>A (p.Ser1749Thr)
c.1411T>A
n.646T>A
n.717T>A
c.5317T>A (p.Ser1773Thr)
n.44T>A
c.4369T>A (p.Ser1457Thr)
c.5545T>A (p.Ser1849Thr)
c.5434T>A (p.Ser1812Thr)
c.5356T>A (p.Ser1786Thr)
c.5008T>A (p.Ser1670Thr)
c.4633T>A (p.Ser1545Thr)
c.5440T>A (p.Ser1814Thr)
c.5542T>A (p.Ser1848Thr)
c.5485T>A (p.Ser1829Thr)
c.5461T>A (p.Ser1821Thr)
c.5416T>A (p.Ser1806Thr)
3g.53801307T>CCA353250980CACNA1Dc.5350T>C (p.Ser1784Pro)
n.2289T>C
n.725T>C
c.5290T>C (p.Ser1764Pro)
c.5245T>C (p.Ser1749Pro)
c.1411T>C
n.646T>C
n.717T>C
c.5317T>C (p.Ser1773Pro)
n.44T>C
c.4369T>C (p.Ser1457Pro)
c.5545T>C (p.Ser1849Pro)
c.5434T>C (p.Ser1812Pro)
c.5356T>C (p.Ser1786Pro)
c.5008T>C (p.Ser1670Pro)
c.4633T>C (p.Ser1545Pro)
c.5440T>C (p.Ser1814Pro)
c.5542T>C (p.Ser1848Pro)
c.5485T>C (p.Ser1829Pro)
c.5461T>C (p.Ser1821Pro)
c.5416T>C (p.Ser1806Pro)
3g.53801307T>GCA353250981CACNA1Dc.5350T>G (p.Ser1784Ala)
n.2289T>G
n.725T>G
c.5290T>G (p.Ser1764Ala)
c.5245T>G (p.Ser1749Ala)
c.1411T>G
n.646T>G
n.717T>G
c.5317T>G (p.Ser1773Ala)
n.44T>G
c.4369T>G (p.Ser1457Ala)
c.5545T>G (p.Ser1849Ala)
c.5434T>G (p.Ser1812Ala)
c.5356T>G (p.Ser1786Ala)
c.5008T>G (p.Ser1670Ala)
c.4633T>G (p.Ser1545Ala)
c.5440T>G (p.Ser1814Ala)
c.5542T>G (p.Ser1848Ala)
c.5485T>G (p.Ser1829Ala)
c.5461T>G (p.Ser1821Ala)
c.5416T>G (p.Ser1806Ala)
3g.53801308C>ACA353250984CACNA1Dc.5351C>A (p.Ser1784Tyr)
n.2290C>A
n.726C>A
c.5291C>A (p.Ser1764Tyr)
c.5246C>A (p.Ser1749Tyr)
c.1412C>A
n.647C>A
n.718C>A
c.5318C>A (p.Ser1773Tyr)
n.45C>A
c.4370C>A (p.Ser1457Tyr)
c.5546C>A (p.Ser1849Tyr)
c.5435C>A (p.Ser1812Tyr)
c.5357C>A (p.Ser1786Tyr)
c.5009C>A (p.Ser1670Tyr)
c.4634C>A (p.Ser1545Tyr)
c.5441C>A (p.Ser1814Tyr)
c.5543C>A (p.Ser1848Tyr)
c.5486C>A (p.Ser1829Tyr)
c.5462C>A (p.Ser1821Tyr)
c.5417C>A (p.Ser1806Tyr)
 dbSNP
3g.53801308C>GCA353250986CACNA1Dc.5351C>G (p.Ser1784Cys)
n.2290C>G
n.726C>G
c.5291C>G (p.Ser1764Cys)
c.5246C>G (p.Ser1749Cys)
c.1412C>G
n.647C>G
n.718C>G
c.5318C>G (p.Ser1773Cys)
n.45C>G
c.4370C>G (p.Ser1457Cys)
c.5546C>G (p.Ser1849Cys)
c.5435C>G (p.Ser1812Cys)
c.5357C>G (p.Ser1786Cys)
c.5009C>G (p.Ser1670Cys)
c.4634C>G (p.Ser1545Cys)
c.5441C>G (p.Ser1814Cys)
c.5543C>G (p.Ser1848Cys)
c.5486C>G (p.Ser1829Cys)
c.5462C>G (p.Ser1821Cys)
c.5417C>G (p.Ser1806Cys)
3g.53801308C>TCA353250988CACNA1Dc.5351C>T (p.Ser1784Phe)
n.2290C>T
n.726C>T
c.5291C>T (p.Ser1764Phe)
c.5246C>T (p.Ser1749Phe)
c.1412C>T
n.647C>T
n.718C>T
c.5318C>T (p.Ser1773Phe)
n.45C>T
c.4370C>T (p.Ser1457Phe)
c.5546C>T (p.Ser1849Phe)
c.5435C>T (p.Ser1812Phe)
c.5357C>T (p.Ser1786Phe)
c.5009C>T (p.Ser1670Phe)
c.4634C>T (p.Ser1545Phe)
c.5441C>T (p.Ser1814Phe)
c.5543C>T (p.Ser1848Phe)
c.5486C>T (p.Ser1829Phe)
c.5462C>T (p.Ser1821Phe)
c.5417C>T (p.Ser1806Phe)
3g.53801309C>ACA433896178CACNA1Dc.5352C>A (p.Ser1784=)
n.2291C>A
n.727C>A
c.5292C>A (p.Ser1764=)
c.5247C>A (p.Ser1749=)
c.1413C>A
n.648C>A
n.719C>A
c.5319C>A (p.Ser1773=)
n.46C>A
c.4371C>A (p.Ser1457=)
c.5547C>A (p.Ser1849=)
c.5436C>A (p.Ser1812=)
c.5358C>A (p.Ser1786=)
c.5010C>A (p.Ser1670=)
c.4635C>A (p.Ser1545=)
c.5442C>A (p.Ser1814=)
c.5544C>A (p.Ser1848=)
c.5487C>A (p.Ser1829=)
c.5463C>A (p.Ser1821=)
c.5418C>A (p.Ser1806=)
3g.53801309C=CA1365484197CACNA1Dc.5352C= (p.Ser1784=)
n.2291C=
n.727C=
c.5292C= (p.Ser1764=)
c.5247C= (p.Ser1749=)
c.1413C=
n.648C=
n.719C=
c.5319C= (p.Ser1773=)
n.46C=
c.4371C= (p.Ser1457=)
c.5547C= (p.Ser1849=)
c.5436C= (p.Ser1812=)
c.5358C= (p.Ser1786=)
c.5010C= (p.Ser1670=)
c.4635C= (p.Ser1545=)
c.5442C= (p.Ser1814=)
c.5544C= (p.Ser1848=)
c.5487C= (p.Ser1829=)
c.5463C= (p.Ser1821=)
c.5418C= (p.Ser1806=)
3g.53801309C>GCA433896180CACNA1Dc.5352C>G (p.Ser1784=)
n.2291C>G
n.727C>G
c.5292C>G (p.Ser1764=)
c.5247C>G (p.Ser1749=)
c.1413C>G
n.648C>G
n.719C>G
c.5319C>G (p.Ser1773=)
n.46C>G
c.4371C>G (p.Ser1457=)
c.5547C>G (p.Ser1849=)
c.5436C>G (p.Ser1812=)
c.5358C>G (p.Ser1786=)
c.5010C>G (p.Ser1670=)
c.4635C>G (p.Ser1545=)
c.5442C>G (p.Ser1814=)
c.5544C>G (p.Ser1848=)
c.5487C>G (p.Ser1829=)
c.5463C>G (p.Ser1821=)
c.5418C>G (p.Ser1806=)
3g.53801309C>TCA433896179CACNA1Dc.5352C>T (p.Ser1784=)
n.2291C>T
n.727C>T
c.5292C>T (p.Ser1764=)
c.5247C>T (p.Ser1749=)
c.1413C>T
n.648C>T
n.719C>T
c.5319C>T (p.Ser1773=)
n.46C>T
c.4371C>T (p.Ser1457=)
c.5547C>T (p.Ser1849=)
c.5436C>T (p.Ser1812=)
c.5358C>T (p.Ser1786=)
c.5010C>T (p.Ser1670=)
c.4635C>T (p.Ser1545=)
c.5442C>T (p.Ser1814=)
c.5544C>T (p.Ser1848=)
c.5487C>T (p.Ser1829=)
c.5463C>T (p.Ser1821=)
c.5418C>T (p.Ser1806=)
 dbSNP gnomAD v2
3g.53801310A>CCA353250990CACNA1Dc.5353A>C (p.Lys1785Gln)
n.2292A>C
n.728A>C
c.5293A>C (p.Lys1765Gln)
c.5248A>C (p.Lys1750Gln)
c.1414A>C
n.649A>C
n.720A>C
c.5320A>C (p.Lys1774Gln)
n.47A>C
c.4372A>C (p.Lys1458Gln)
c.5548A>C (p.Lys1850Gln)
c.5437A>C (p.Lys1813Gln)
c.5359A>C (p.Lys1787Gln)
c.5011A>C (p.Lys1671Gln)
c.4636A>C (p.Lys1546Gln)
c.5443A>C (p.Lys1815Gln)
c.5545A>C (p.Lys1849Gln)
c.5488A>C (p.Lys1830Gln)
c.5464A>C (p.Lys1822Gln)
c.5419A>C (p.Lys1807Gln)
3g.53801310A>GCA353250992CACNA1Dc.5353A>G (p.Lys1785Glu)
n.2292A>G
n.728A>G
c.5293A>G (p.Lys1765Glu)
c.5248A>G (p.Lys1750Glu)
c.1414A>G
n.649A>G
n.720A>G
c.5320A>G (p.Lys1774Glu)
n.47A>G
c.4372A>G (p.Lys1458Glu)
c.5548A>G (p.Lys1850Glu)
c.5437A>G (p.Lys1813Glu)
c.5359A>G (p.Lys1787Glu)
c.5011A>G (p.Lys1671Glu)
c.4636A>G (p.Lys1546Glu)
c.5443A>G (p.Lys1815Glu)
c.5545A>G (p.Lys1849Glu)
c.5488A>G (p.Lys1830Glu)
c.5464A>G (p.Lys1822Glu)
c.5419A>G (p.Lys1807Glu)
3g.53801310A>TCA353250993CACNA1Dc.5353A>T (p.Lys1785Ter)
n.2292A>T
n.728A>T
c.5293A>T (p.Lys1765Ter)
c.5248A>T (p.Lys1750Ter)
c.1414A>T
n.649A>T
n.720A>T
c.5320A>T (p.Lys1774Ter)
n.47A>T
c.4372A>T (p.Lys1458Ter)
c.5548A>T (p.Lys1850Ter)
c.5437A>T (p.Lys1813Ter)
c.5359A>T (p.Lys1787Ter)
c.5011A>T (p.Lys1671Ter)
c.4636A>T (p.Lys1546Ter)
c.5443A>T (p.Lys1815Ter)
c.5545A>T (p.Lys1849Ter)
c.5488A>T (p.Lys1830Ter)
c.5464A>T (p.Lys1822Ter)
c.5419A>T (p.Lys1807Ter)
3g.53801311A>CCA353250994CACNA1Dc.5354A>C (p.Lys1785Thr)
n.2293A>C
n.729A>C
c.5294A>C (p.Lys1765Thr)
c.5249A>C (p.Lys1750Thr)
c.1415A>C
n.650A>C
n.721A>C
c.5321A>C (p.Lys1774Thr)
n.48A>C
c.4373A>C (p.Lys1458Thr)
c.5549A>C (p.Lys1850Thr)
c.5438A>C (p.Lys1813Thr)
c.5360A>C (p.Lys1787Thr)
c.5012A>C (p.Lys1671Thr)
c.4637A>C (p.Lys1546Thr)
c.5444A>C (p.Lys1815Thr)
c.5546A>C (p.Lys1849Thr)
c.5489A>C (p.Lys1830Thr)
c.5465A>C (p.Lys1822Thr)
c.5420A>C (p.Lys1807Thr)
3g.53801311A>GCA353250995CACNA1Dc.5354A>G (p.Lys1785Arg)
n.2293A>G
n.729A>G
c.5294A>G (p.Lys1765Arg)
c.5249A>G (p.Lys1750Arg)
c.1415A>G
n.650A>G
n.721A>G
c.5321A>G (p.Lys1774Arg)
n.48A>G
c.4373A>G (p.Lys1458Arg)
c.5549A>G (p.Lys1850Arg)
c.5438A>G (p.Lys1813Arg)
c.5360A>G (p.Lys1787Arg)
c.5012A>G (p.Lys1671Arg)
c.4637A>G (p.Lys1546Arg)
c.5444A>G (p.Lys1815Arg)
c.5546A>G (p.Lys1849Arg)
c.5489A>G (p.Lys1830Arg)
c.5465A>G (p.Lys1822Arg)
c.5420A>G (p.Lys1807Arg)
3g.53801311A>TCA353250997CACNA1Dc.5354A>T (p.Lys1785Ile)
n.2293A>T
n.729A>T
c.5294A>T (p.Lys1765Ile)
c.5249A>T (p.Lys1750Ile)
c.1415A>T
n.650A>T
n.721A>T
c.5321A>T (p.Lys1774Ile)
n.48A>T
c.4373A>T (p.Lys1458Ile)
c.5549A>T (p.Lys1850Ile)
c.5438A>T (p.Lys1813Ile)
c.5360A>T (p.Lys1787Ile)
c.5012A>T (p.Lys1671Ile)
c.4637A>T (p.Lys1546Ile)
c.5444A>T (p.Lys1815Ile)
c.5546A>T (p.Lys1849Ile)
c.5489A>T (p.Lys1830Ile)
c.5465A>T (p.Lys1822Ile)
c.5420A>T (p.Lys1807Ile)
 gnomAD v4
3g.53801312A>CCA353250999CACNA1Dc.5355A>C (p.Lys1785Asn)
n.2294A>C
n.730A>C
c.5295A>C (p.Lys1765Asn)
c.5250A>C (p.Lys1750Asn)
c.1416A>C
n.651A>C
n.722A>C
c.5322A>C (p.Lys1774Asn)
n.49A>C
c.4374A>C (p.Lys1458Asn)
c.5550A>C (p.Lys1850Asn)
c.5439A>C (p.Lys1813Asn)
c.5361A>C (p.Lys1787Asn)
c.5013A>C (p.Lys1671Asn)
c.4638A>C (p.Lys1546Asn)
c.5445A>C (p.Lys1815Asn)
c.5547A>C (p.Lys1849Asn)
c.5490A>C (p.Lys1830Asn)
c.5466A>C (p.Lys1822Asn)
c.5421A>C (p.Lys1807Asn)
 gnomAD v4
3g.53801312A>GCA433896181CACNA1Dc.5355A>G (p.Lys1785=)
n.2294A>G
n.730A>G
c.5295A>G (p.Lys1765=)
c.5250A>G (p.Lys1750=)
c.1416A>G
n.651A>G
n.722A>G
c.5322A>G (p.Lys1774=)
n.49A>G
c.4374A>G (p.Lys1458=)
c.5550A>G (p.Lys1850=)
c.5439A>G (p.Lys1813=)
c.5361A>G (p.Lys1787=)
c.5013A>G (p.Lys1671=)
c.4638A>G (p.Lys1546=)
c.5445A>G (p.Lys1815=)
c.5547A>G (p.Lys1849=)
c.5490A>G (p.Lys1830=)
c.5466A>G (p.Lys1822=)
c.5421A>G (p.Lys1807=)
3g.53801312A>TCA353251001CACNA1Dc.5355A>T (p.Lys1785Asn)
n.2294A>T
n.730A>T
c.5295A>T (p.Lys1765Asn)
c.5250A>T (p.Lys1750Asn)
c.1416A>T
n.651A>T
n.722A>T
c.5322A>T (p.Lys1774Asn)
n.49A>T
c.4374A>T (p.Lys1458Asn)
c.5550A>T (p.Lys1850Asn)
c.5439A>T (p.Lys1813Asn)
c.5361A>T (p.Lys1787Asn)
c.5013A>T (p.Lys1671Asn)
c.4638A>T (p.Lys1546Asn)
c.5445A>T (p.Lys1815Asn)
c.5547A>T (p.Lys1849Asn)
c.5490A>T (p.Lys1830Asn)
c.5466A>T (p.Lys1822Asn)
c.5421A>T (p.Lys1807Asn)
3g.53801313G>ACA2455097CACNA1Dc.5356G>A (p.Ala1786Thr)
n.2295G>A
n.731G>A
c.5296G>A (p.Ala1766Thr)
c.5251G>A (p.Ala1751Thr)
c.1417G>A
n.652G>A
n.723G>A
c.5323G>A (p.Ala1775Thr)
n.50G>A
c.4375G>A (p.Ala1459Thr)
c.5551G>A (p.Ala1851Thr)
c.5440G>A (p.Ala1814Thr)
c.5362G>A (p.Ala1788Thr)
c.5014G>A (p.Ala1672Thr)
c.4639G>A (p.Ala1547Thr)
c.5446G>A (p.Ala1816Thr)
c.5548G>A (p.Ala1850Thr)
c.5491G>A (p.Ala1831Thr)
c.5467G>A (p.Ala1823Thr)
c.5422G>A (p.Ala1808Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.53801313G>CCA2455096CACNA1Dc.5356G>C (p.Ala1786Pro)
n.2295G>C
n.731G>C
c.5296G>C (p.Ala1766Pro)
c.5251G>C (p.Ala1751Pro)
c.1417G>C
n.652G>C
n.723G>C
c.5323G>C (p.Ala1775Pro)
n.50G>C
c.4375G>C (p.Ala1459Pro)
c.5551G>C (p.Ala1851Pro)
c.5440G>C (p.Ala1814Pro)
c.5362G>C (p.Ala1788Pro)
c.5014G>C (p.Ala1672Pro)
c.4639G>C (p.Ala1547Pro)
c.5446G>C (p.Ala1816Pro)
c.5548G>C (p.Ala1850Pro)
c.5491G>C (p.Ala1831Pro)
c.5467G>C (p.Ala1823Pro)
c.5422G>C (p.Ala1808Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.53801313G=CA1365484198CACNA1Dc.5356G= (p.Ala1786=)
n.2295G=
n.731G=
c.5296G= (p.Ala1766=)
c.5251G= (p.Ala1751=)
c.1417G=
n.652G=
n.723G=
c.5323G= (p.Ala1775=)
n.50G=
c.4375G= (p.Ala1459=)
c.5551G= (p.Ala1851=)
c.5440G= (p.Ala1814=)
c.5362G= (p.Ala1788=)
c.5014G= (p.Ala1672=)
c.4639G= (p.Ala1547=)
c.5446G= (p.Ala1816=)
c.5548G= (p.Ala1850=)
c.5491G= (p.Ala1831=)
c.5467G= (p.Ala1823=)
c.5422G= (p.Ala1808=)
3g.53801313G>TCA353251004CACNA1Dc.5356G>T (p.Ala1786Ser)
n.2295G>T
n.731G>T
c.5296G>T (p.Ala1766Ser)
c.5251G>T (p.Ala1751Ser)
c.1417G>T
n.652G>T
n.723G>T
c.5323G>T (p.Ala1775Ser)
n.50G>T
c.4375G>T (p.Ala1459Ser)
c.5551G>T (p.Ala1851Ser)
c.5440G>T (p.Ala1814Ser)
c.5362G>T (p.Ala1788Ser)
c.5014G>T (p.Ala1672Ser)
c.4639G>T (p.Ala1547Ser)
c.5446G>T (p.Ala1816Ser)
c.5548G>T (p.Ala1850Ser)
c.5491G>T (p.Ala1831Ser)
c.5467G>T (p.Ala1823Ser)
c.5422G>T (p.Ala1808Ser)
3g.53801314C>ACA353251007CACNA1Dc.5357C>A (p.Ala1786Asp)
n.2296C>A
n.732C>A
c.5297C>A (p.Ala1766Asp)
c.5252C>A (p.Ala1751Asp)
c.1418C>A
n.653C>A
n.724C>A
c.5324C>A (p.Ala1775Asp)
n.51C>A
c.4376C>A (p.Ala1459Asp)
c.5552C>A (p.Ala1851Asp)
c.5441C>A (p.Ala1814Asp)
c.5363C>A (p.Ala1788Asp)
c.5015C>A (p.Ala1672Asp)
c.4640C>A (p.Ala1547Asp)
c.5447C>A (p.Ala1816Asp)
c.5549C>A (p.Ala1850Asp)
c.5492C>A (p.Ala1831Asp)
c.5468C>A (p.Ala1823Asp)
c.5423C>A (p.Ala1808Asp)
3g.53801314C>GCA353251008CACNA1Dc.5357C>G (p.Ala1786Gly)
n.2296C>G
n.732C>G
c.5297C>G (p.Ala1766Gly)
c.5252C>G (p.Ala1751Gly)
c.1418C>G
n.653C>G
n.724C>G
c.5324C>G (p.Ala1775Gly)
n.51C>G
c.4376C>G (p.Ala1459Gly)
c.5552C>G (p.Ala1851Gly)
c.5441C>G (p.Ala1814Gly)
c.5363C>G (p.Ala1788Gly)
c.5015C>G (p.Ala1672Gly)
c.4640C>G (p.Ala1547Gly)
c.5447C>G (p.Ala1816Gly)
c.5549C>G (p.Ala1850Gly)
c.5492C>G (p.Ala1831Gly)
c.5468C>G (p.Ala1823Gly)
c.5423C>G (p.Ala1808Gly)
3g.53801314C>TCA353251010CACNA1Dc.5357C>T (p.Ala1786Val)
n.2296C>T
n.732C>T
c.5297C>T (p.Ala1766Val)
c.5252C>T (p.Ala1751Val)
c.1418C>T
n.653C>T
n.724C>T
c.5324C>T (p.Ala1775Val)
n.51C>T
c.4376C>T (p.Ala1459Val)
c.5552C>T (p.Ala1851Val)
c.5441C>T (p.Ala1814Val)
c.5363C>T (p.Ala1788Val)
c.5015C>T (p.Ala1672Val)
c.4640C>T (p.Ala1547Val)
c.5447C>T (p.Ala1816Val)
c.5549C>T (p.Ala1850Val)
c.5492C>T (p.Ala1831Val)
c.5468C>T (p.Ala1823Val)
c.5423C>T (p.Ala1808Val)
 gnomAD v4
3g.53801315T>ACA433896182CACNA1Dc.5358T>A (p.Ala1786=)
n.2297T>A
n.733T>A
c.5298T>A (p.Ala1766=)
c.5253T>A (p.Ala1751=)
c.1419T>A
n.654T>A
n.725T>A
c.5325T>A (p.Ala1775=)
n.52T>A
c.4377T>A (p.Ala1459=)
c.5553T>A (p.Ala1851=)
c.5442T>A (p.Ala1814=)
c.5364T>A (p.Ala1788=)
c.5016T>A (p.Ala1672=)
c.4641T>A (p.Ala1547=)
c.5448T>A (p.Ala1816=)
c.5550T>A (p.Ala1850=)
c.5493T>A (p.Ala1831=)
c.5469T>A (p.Ala1823=)
c.5424T>A (p.Ala1808=)
3g.53801315T>CCA433896184CACNA1Dc.5358T>C (p.Ala1786=)
n.2297T>C
n.733T>C
c.5298T>C (p.Ala1766=)
c.5253T>C (p.Ala1751=)
c.1419T>C
n.654T>C
n.725T>C
c.5325T>C (p.Ala1775=)
n.52T>C
c.4377T>C (p.Ala1459=)
c.5553T>C (p.Ala1851=)
c.5442T>C (p.Ala1814=)
c.5364T>C (p.Ala1788=)
c.5016T>C (p.Ala1672=)
c.4641T>C (p.Ala1547=)
c.5448T>C (p.Ala1816=)
c.5550T>C (p.Ala1850=)
c.5493T>C (p.Ala1831=)
c.5469T>C (p.Ala1823=)
c.5424T>C (p.Ala1808=)
3g.53801315T>GCA433896183CACNA1Dc.5358T>G (p.Ala1786=)
n.2297T>G
n.733T>G
c.5298T>G (p.Ala1766=)
c.5253T>G (p.Ala1751=)
c.1419T>G
n.654T>G
n.725T>G
c.5325T>G (p.Ala1775=)
n.52T>G
c.4377T>G (p.Ala1459=)
c.5553T>G (p.Ala1851=)
c.5442T>G (p.Ala1814=)
c.5364T>G (p.Ala1788=)
c.5016T>G (p.Ala1672=)
c.4641T>G (p.Ala1547=)
c.5448T>G (p.Ala1816=)
c.5550T>G (p.Ala1850=)
c.5493T>G (p.Ala1831=)
c.5469T>G (p.Ala1823=)
c.5424T>G (p.Ala1808=)
3g.53801316G>ACA353251013CACNA1Dc.5359G>A (p.Ala1787Thr)
n.2298G>A
n.734G>A
c.5299G>A (p.Ala1767Thr)
c.5254G>A (p.Ala1752Thr)
c.1420G>A
n.655G>A
n.726G>A
c.5326G>A (p.Ala1776Thr)
n.53G>A
c.4378G>A (p.Ala1460Thr)
c.5554G>A (p.Ala1852Thr)
c.5443G>A (p.Ala1815Thr)
c.5365G>A (p.Ala1789Thr)
c.5017G>A (p.Ala1673Thr)
c.4642G>A (p.Ala1548Thr)
c.5449G>A (p.Ala1817Thr)
c.5551G>A (p.Ala1851Thr)
c.5494G>A (p.Ala1832Thr)
c.5470G>A (p.Ala1824Thr)
c.5425G>A (p.Ala1809Thr)
3g.53801316G>CCA353251014CACNA1Dc.5359G>C (p.Ala1787Pro)
n.2298G>C
n.734G>C
c.5299G>C (p.Ala1767Pro)
c.5254G>C (p.Ala1752Pro)
c.1420G>C
n.655G>C
n.726G>C
c.5326G>C (p.Ala1776Pro)
n.53G>C
c.4378G>C (p.Ala1460Pro)
c.5554G>C (p.Ala1852Pro)
c.5443G>C (p.Ala1815Pro)
c.5365G>C (p.Ala1789Pro)
c.5017G>C (p.Ala1673Pro)
c.4642G>C (p.Ala1548Pro)
c.5449G>C (p.Ala1817Pro)
c.5551G>C (p.Ala1851Pro)
c.5494G>C (p.Ala1832Pro)
c.5470G>C (p.Ala1824Pro)
c.5425G>C (p.Ala1809Pro)
3g.53801316G>TCA353251016CACNA1Dc.5359G>T (p.Ala1787Ser)
n.2298G>T
n.734G>T
c.5299G>T (p.Ala1767Ser)
c.5254G>T (p.Ala1752Ser)
c.1420G>T
n.655G>T
n.726G>T
c.5326G>T (p.Ala1776Ser)
n.53G>T
c.4378G>T (p.Ala1460Ser)
c.5554G>T (p.Ala1852Ser)
c.5443G>T (p.Ala1815Ser)
c.5365G>T (p.Ala1789Ser)
c.5017G>T (p.Ala1673Ser)
c.4642G>T (p.Ala1548Ser)
c.5449G>T (p.Ala1817Ser)
c.5551G>T (p.Ala1851Ser)
c.5494G>T (p.Ala1832Ser)
c.5470G>T (p.Ala1824Ser)
c.5425G>T (p.Ala1809Ser)
3g.53801316_53801317insTCCA2539224668CACNA1Dc.5359_5360insTC (p.Ala1787ValfsTer?)
n.2298_2299insTC
n.734_735insTC
c.5299_5300insTC (p.Ala1767ValfsTer?)
c.5254_5255insTC (p.Ala1752ValfsTer?)
c.1420_1421insTC
n.655_656insTC
n.726_727insTC
c.5326_5327insTC (p.Ala1776ValfsTer?)
n.53_54insTC
c.4378_4379insTC (p.Ala1460ValfsTer?)
c.5554_5555insTC (p.Ala1852ValfsTer?)
c.5443_5444insTC (p.Ala1815ValfsTer?)
c.5365_5366insTC (p.Ala1789ValfsTer?)
c.5017_5018insTC (p.Ala1673ValfsTer?)
c.4642_4643insTC (p.Ala1548ValfsTer?)
c.5449_5450insTC (p.Ala1817ValfsTer?)
c.5551_5552insTC (p.Ala1851ValfsTer?)
c.5494_5495insTC (p.Ala1832ValfsTer?)
c.5470_5471insTC (p.Ala1824ValfsTer?)
c.5425_5426insTC (p.Ala1809ValfsTer?)
3g.53801317C>ACA353251019CACNA1Dc.5360C>A (p.Ala1787Asp)
n.2299C>A
n.735C>A
c.5300C>A (p.Ala1767Asp)
c.5255C>A (p.Ala1752Asp)
c.1421C>A
n.656C>A
n.727C>A
c.5327C>A (p.Ala1776Asp)
n.54C>A
c.4379C>A (p.Ala1460Asp)
c.5555C>A (p.Ala1852Asp)
c.5444C>A (p.Ala1815Asp)
c.5366C>A (p.Ala1789Asp)
c.5018C>A (p.Ala1673Asp)
c.4643C>A (p.Ala1548Asp)
c.5450C>A (p.Ala1817Asp)
c.5552C>A (p.Ala1851Asp)
c.5495C>A (p.Ala1832Asp)
c.5471C>A (p.Ala1824Asp)
c.5426C>A (p.Ala1809Asp)
3g.53801317C>GCA353251020CACNA1Dc.5360C>G (p.Ala1787Gly)
n.2299C>G
n.735C>G
c.5300C>G (p.Ala1767Gly)
c.5255C>G (p.Ala1752Gly)
c.1421C>G
n.656C>G
n.727C>G
c.5327C>G (p.Ala1776Gly)
n.54C>G
c.4379C>G (p.Ala1460Gly)
c.5555C>G (p.Ala1852Gly)
c.5444C>G (p.Ala1815Gly)
c.5366C>G (p.Ala1789Gly)
c.5018C>G (p.Ala1673Gly)
c.4643C>G (p.Ala1548Gly)
c.5450C>G (p.Ala1817Gly)
c.5552C>G (p.Ala1851Gly)
c.5495C>G (p.Ala1832Gly)
c.5471C>G (p.Ala1824Gly)
c.5426C>G (p.Ala1809Gly)
3g.53801317C>TCA353251023CACNA1Dc.5360C>T (p.Ala1787Val)
n.2299C>T
n.735C>T
c.5300C>T (p.Ala1767Val)
c.5255C>T (p.Ala1752Val)
c.1421C>T
n.656C>T
n.727C>T
c.5327C>T (p.Ala1776Val)
n.54C>T
c.4379C>T (p.Ala1460Val)
c.5555C>T (p.Ala1852Val)
c.5444C>T (p.Ala1815Val)
c.5366C>T (p.Ala1789Val)
c.5018C>T (p.Ala1673Val)
c.4643C>T (p.Ala1548Val)
c.5450C>T (p.Ala1817Val)
c.5552C>T (p.Ala1851Val)
c.5495C>T (p.Ala1832Val)
c.5471C>T (p.Ala1824Val)
c.5426C>T (p.Ala1809Val)
3g.53801318C>ACA433896185CACNA1Dc.5361C>A (p.Ala1787=)
n.2300C>A
n.736C>A
c.5301C>A (p.Ala1767=)
c.5256C>A (p.Ala1752=)
c.1422C>A
n.657C>A
n.728C>A
c.5328C>A (p.Ala1776=)
n.55C>A
c.4380C>A (p.Ala1460=)
c.5556C>A (p.Ala1852=)
c.5445C>A (p.Ala1815=)
c.5367C>A (p.Ala1789=)
c.5019C>A (p.Ala1673=)
c.4644C>A (p.Ala1548=)
c.5451C>A (p.Ala1817=)
c.5553C>A (p.Ala1851=)
c.5496C>A (p.Ala1832=)
c.5472C>A (p.Ala1824=)
c.5427C>A (p.Ala1809=)
 gnomAD v4
3g.53801318C=CA1365484199CACNA1Dc.5361C= (p.Ala1787=)
n.2300C=
n.736C=
c.5301C= (p.Ala1767=)
c.5256C= (p.Ala1752=)
c.1422C=
n.657C=
n.728C=
c.5328C= (p.Ala1776=)
n.55C=
c.4380C= (p.Ala1460=)
c.5556C= (p.Ala1852=)
c.5445C= (p.Ala1815=)
c.5367C= (p.Ala1789=)
c.5019C= (p.Ala1673=)
c.4644C= (p.Ala1548=)
c.5451C= (p.Ala1817=)
c.5553C= (p.Ala1851=)
c.5496C= (p.Ala1832=)
c.5472C= (p.Ala1824=)
c.5427C= (p.Ala1809=)
3g.53801318C>GCA433896186CACNA1Dc.5361C>G (p.Ala1787=)
n.2300C>G
n.736C>G
c.5301C>G (p.Ala1767=)
c.5256C>G (p.Ala1752=)
c.1422C>G
n.657C>G
n.728C>G
c.5328C>G (p.Ala1776=)
n.55C>G
c.4380C>G (p.Ala1460=)
c.5556C>G (p.Ala1852=)
c.5445C>G (p.Ala1815=)
c.5367C>G (p.Ala1789=)
c.5019C>G (p.Ala1673=)
c.4644C>G (p.Ala1548=)
c.5451C>G (p.Ala1817=)
c.5553C>G (p.Ala1851=)
c.5496C>G (p.Ala1832=)
c.5472C>G (p.Ala1824=)
c.5427C>G (p.Ala1809=)
3g.53801318C>TCA433896187CACNA1Dc.5361C>T (p.Ala1787=)
n.2300C>T
n.736C>T
c.5301C>T (p.Ala1767=)
c.5256C>T (p.Ala1752=)
c.1422C>T
n.657C>T
n.728C>T
c.5328C>T (p.Ala1776=)
n.55C>T
c.4380C>T (p.Ala1460=)
c.5556C>T (p.Ala1852=)
c.5445C>T (p.Ala1815=)
c.5367C>T (p.Ala1789=)
c.5019C>T (p.Ala1673=)
c.4644C>T (p.Ala1548=)
c.5451C>T (p.Ala1817=)
c.5553C>T (p.Ala1851=)
c.5496C>T (p.Ala1832=)
c.5472C>T (p.Ala1824=)
c.5427C>T (p.Ala1809=)
 dbSNP gnomAD v4
3g.53801319C>ACA353251025CACNA1Dc.5362C>A (p.His1788Asn)
n.2301C>A
n.737C>A
c.5302C>A (p.His1768Asn)
c.5257C>A (p.His1753Asn)
c.1423C>A
n.658C>A
n.729C>A
c.5329C>A (p.His1777Asn)
n.56C>A
c.4381C>A (p.His1461Asn)
c.5557C>A (p.His1853Asn)
c.5446C>A (p.His1816Asn)
c.5368C>A (p.His1790Asn)
c.5020C>A (p.His1674Asn)
c.4645C>A (p.His1549Asn)
c.5452C>A (p.His1818Asn)
c.5554C>A (p.His1852Asn)
c.5497C>A (p.His1833Asn)
c.5473C>A (p.His1825Asn)
c.5428C>A (p.His1810Asn)
3g.53801319C>GCA353251029CACNA1Dc.5362C>G (p.His1788Asp)
n.2301C>G
n.737C>G
c.5302C>G (p.His1768Asp)
c.5257C>G (p.His1753Asp)
c.1423C>G
n.658C>G
n.729C>G
c.5329C>G (p.His1777Asp)
n.56C>G
c.4381C>G (p.His1461Asp)
c.5557C>G (p.His1853Asp)
c.5446C>G (p.His1816Asp)
c.5368C>G (p.His1790Asp)
c.5020C>G (p.His1674Asp)
c.4645C>G (p.His1549Asp)
c.5452C>G (p.His1818Asp)
c.5554C>G (p.His1852Asp)
c.5497C>G (p.His1833Asp)
c.5473C>G (p.His1825Asp)
c.5428C>G (p.His1810Asp)
3g.53801319C>TCA353251027CACNA1Dc.5362C>T (p.His1788Tyr)
n.2301C>T
n.737C>T
c.5302C>T (p.His1768Tyr)
c.5257C>T (p.His1753Tyr)
c.1423C>T
n.658C>T
n.729C>T
c.5329C>T (p.His1777Tyr)
n.56C>T
c.4381C>T (p.His1461Tyr)
c.5557C>T (p.His1853Tyr)
c.5446C>T (p.His1816Tyr)
c.5368C>T (p.His1790Tyr)
c.5020C>T (p.His1674Tyr)
c.4645C>T (p.His1549Tyr)
c.5452C>T (p.His1818Tyr)
c.5554C>T (p.His1852Tyr)
c.5497C>T (p.His1833Tyr)
c.5473C>T (p.His1825Tyr)
c.5428C>T (p.His1810Tyr)
 COSMIC COSMIC
3g.53801320A=CA1365484200CACNA1Dc.5363A= (p.His1788=)
n.2302A=
n.738A=
c.5303A= (p.His1768=)
c.5258A= (p.His1753=)
c.1424A=
n.659A=
n.730A=
c.5330A= (p.His1777=)
n.57A=
c.4382A= (p.His1461=)
c.5558A= (p.His1853=)
c.5447A= (p.His1816=)
c.5369A= (p.His1790=)
c.5021A= (p.His1674=)
c.4646A= (p.His1549=)
c.5453A= (p.His1818=)
c.5555A= (p.His1852=)
c.5498A= (p.His1833=)
c.5474A= (p.His1825=)
c.5429A= (p.His1810=)
3g.53801320A>CCA353251031CACNA1Dc.5363A>C (p.His1788Pro)
n.2302A>C
n.738A>C
c.5303A>C (p.His1768Pro)
c.5258A>C (p.His1753Pro)
c.1424A>C
n.659A>C
n.730A>C
c.5330A>C (p.His1777Pro)
n.57A>C
c.4382A>C (p.His1461Pro)
c.5558A>C (p.His1853Pro)
c.5447A>C (p.His1816Pro)
c.5369A>C (p.His1790Pro)
c.5021A>C (p.His1674Pro)
c.4646A>C (p.His1549Pro)
c.5453A>C (p.His1818Pro)
c.5555A>C (p.His1852Pro)
c.5498A>C (p.His1833Pro)
c.5474A>C (p.His1825Pro)
c.5429A>C (p.His1810Pro)
3g.53801320A>GCA353251033CACNA1Dc.5363A>G (p.His1788Arg)
n.2302A>G
n.738A>G
c.5303A>G (p.His1768Arg)
c.5258A>G (p.His1753Arg)
c.1424A>G
n.659A>G
n.730A>G
c.5330A>G (p.His1777Arg)
n.57A>G
c.4382A>G (p.His1461Arg)
c.5558A>G (p.His1853Arg)
c.5447A>G (p.His1816Arg)
c.5369A>G (p.His1790Arg)
c.5021A>G (p.His1674Arg)
c.4646A>G (p.His1549Arg)
c.5453A>G (p.His1818Arg)
c.5555A>G (p.His1852Arg)
c.5498A>G (p.His1833Arg)
c.5474A>G (p.His1825Arg)
c.5429A>G (p.His1810Arg)
 dbSNP gnomAD v3 gnomAD v4
3g.53801320A>TCA353251035CACNA1Dc.5363A>T (p.His1788Leu)
n.2302A>T
n.738A>T
c.5303A>T (p.His1768Leu)
c.5258A>T (p.His1753Leu)
c.1424A>T
n.659A>T
n.730A>T
c.5330A>T (p.His1777Leu)
n.57A>T
c.4382A>T (p.His1461Leu)
c.5558A>T (p.His1853Leu)
c.5447A>T (p.His1816Leu)
c.5369A>T (p.His1790Leu)
c.5021A>T (p.His1674Leu)
c.4646A>T (p.His1549Leu)
c.5453A>T (p.His1818Leu)
c.5555A>T (p.His1852Leu)
c.5498A>T (p.His1833Leu)
c.5474A>T (p.His1825Leu)
c.5429A>T (p.His1810Leu)
3g.53801320_53801321delCA2561654445CACNA1Dc.5363_5364del (p.His1788ArgfsTer10)
n.2302_2303del
n.738_739del
c.5303_5304del (p.His1768ArgfsTer10)
c.5258_5259del (p.His1753ArgfsTer10)
c.1424_1425del
n.659_660del
n.730_731del
c.5330_5331del (p.His1777ArgfsTer10)
n.57_58del
c.4382_4383del (p.His1461ArgfsTer10)
c.5558_5559del (p.His1853ArgfsTer10)
c.5447_5448del (p.His1816ArgfsTer10)
c.5369_5370del (p.His1790ArgfsTer10)
c.5021_5022del (p.His1674ArgfsTer10)
c.4646_4647del (p.His1549ArgfsTer10)
c.5453_5454del (p.His1818ArgfsTer10)
c.5555_5556del (p.His1852ArgfsTer10)
c.5498_5499del (p.His1833ArgfsTer10)
c.5474_5475del (p.His1825ArgfsTer10)
c.5429_5430del (p.His1810ArgfsTer10)
3g.53801321T>ACA353251038CACNA1Dc.5364T>A (p.His1788Gln)
n.2303T>A
n.739T>A
c.5304T>A (p.His1768Gln)
c.5259T>A (p.His1753Gln)
c.1425T>A
n.660T>A
n.731T>A
c.5331T>A (p.His1777Gln)
n.58T>A
c.4383T>A (p.His1461Gln)
c.5559T>A (p.His1853Gln)
c.5448T>A (p.His1816Gln)
c.5370T>A (p.His1790Gln)
c.5022T>A (p.His1674Gln)
c.4647T>A (p.His1549Gln)
c.5454T>A (p.His1818Gln)
c.5556T>A (p.His1852Gln)
c.5499T>A (p.His1833Gln)
c.5475T>A (p.His1825Gln)
c.5430T>A (p.His1810Gln)
 gnomAD v4
3g.53801321T>CCA433896188CACNA1Dc.5364T>C (p.His1788=)
n.2303T>C
n.739T>C
c.5304T>C (p.His1768=)
c.5259T>C (p.His1753=)
c.1425T>C
n.660T>C
n.731T>C
c.5331T>C (p.His1777=)
n.58T>C
c.4383T>C (p.His1461=)
c.5559T>C (p.His1853=)
c.5448T>C (p.His1816=)
c.5370T>C (p.His1790=)
c.5022T>C (p.His1674=)
c.4647T>C (p.His1549=)
c.5454T>C (p.His1818=)
c.5556T>C (p.His1852=)
c.5499T>C (p.His1833=)
c.5475T>C (p.His1825=)
c.5430T>C (p.His1810=)
 ClinVar
3g.53801321T>GCA353251040CACNA1Dc.5364T>G (p.His1788Gln)
n.2303T>G
n.739T>G
c.5304T>G (p.His1768Gln)
c.5259T>G (p.His1753Gln)
c.1425T>G
n.660T>G
n.731T>G
c.5331T>G (p.His1777Gln)
n.58T>G
c.4383T>G (p.His1461Gln)
c.5559T>G (p.His1853Gln)
c.5448T>G (p.His1816Gln)
c.5370T>G (p.His1790Gln)
c.5022T>G (p.His1674Gln)
c.4647T>G (p.His1549Gln)
c.5454T>G (p.His1818Gln)
c.5556T>G (p.His1852Gln)
c.5499T>G (p.His1833Gln)
c.5475T>G (p.His1825Gln)
c.5430T>G (p.His1810Gln)
3g.53801322G>ACA353251041CACNA1Dc.5365G>A (p.Gly1789Arg)
n.2304G>A
n.740G>A
c.5305G>A (p.Gly1769Arg)
c.5260G>A (p.Gly1754Arg)
c.1426G>A
n.661G>A
n.732G>A
c.5332G>A (p.Gly1778Arg)
n.59G>A
c.4384G>A (p.Gly1462Arg)
c.5560G>A (p.Gly1854Arg)
c.5449G>A (p.Gly1817Arg)
c.5371G>A (p.Gly1791Arg)
c.5023G>A (p.Gly1675Arg)
c.4648G>A (p.Gly1550Arg)
c.5455G>A (p.Gly1819Arg)
c.5557G>A (p.Gly1853Arg)
c.5500G>A (p.Gly1834Arg)
c.5476G>A (p.Gly1826Arg)
c.5431G>A (p.Gly1811Arg)
 dbSNP
3g.53801322G>CCA353251042CACNA1Dc.5365G>C (p.Gly1789Arg)
n.2304G>C
n.740G>C
c.5305G>C (p.Gly1769Arg)
c.5260G>C (p.Gly1754Arg)
c.1426G>C
n.661G>C
n.732G>C
c.5332G>C (p.Gly1778Arg)
n.59G>C
c.4384G>C (p.Gly1462Arg)
c.5560G>C (p.Gly1854Arg)
c.5449G>C (p.Gly1817Arg)
c.5371G>C (p.Gly1791Arg)
c.5023G>C (p.Gly1675Arg)
c.4648G>C (p.Gly1550Arg)
c.5455G>C (p.Gly1819Arg)
c.5557G>C (p.Gly1853Arg)
c.5500G>C (p.Gly1834Arg)
c.5476G>C (p.Gly1826Arg)
c.5431G>C (p.Gly1811Arg)
3g.53801322G=CA1365484201CACNA1Dc.5365G= (p.Gly1789=)
n.2304G=
n.740G=
c.5305G= (p.Gly1769=)
c.5260G= (p.Gly1754=)
c.1426G=
n.661G=
n.732G=
c.5332G= (p.Gly1778=)
n.59G=
c.4384G= (p.Gly1462=)
c.5560G= (p.Gly1854=)
c.5449G= (p.Gly1817=)
c.5371G= (p.Gly1791=)
c.5023G= (p.Gly1675=)
c.4648G= (p.Gly1550=)
c.5455G= (p.Gly1819=)
c.5557G= (p.Gly1853=)
c.5500G= (p.Gly1834=)
c.5476G= (p.Gly1826=)
c.5431G= (p.Gly1811=)
3g.53801322G>TCA353251043CACNA1Dc.5365G>T (p.Gly1789Ter)
n.2304G>T
n.740G>T
c.5305G>T (p.Gly1769Ter)
c.5260G>T (p.Gly1754Ter)
c.1426G>T
n.661G>T
n.732G>T
c.5332G>T (p.Gly1778Ter)
n.59G>T
c.4384G>T (p.Gly1462Ter)
c.5560G>T (p.Gly1854Ter)
c.5449G>T (p.Gly1817Ter)
c.5371G>T (p.Gly1791Ter)
c.5023G>T (p.Gly1675Ter)
c.4648G>T (p.Gly1550Ter)
c.5455G>T (p.Gly1819Ter)
c.5557G>T (p.Gly1853Ter)
c.5500G>T (p.Gly1834Ter)
c.5476G>T (p.Gly1826Ter)
c.5431G>T (p.Gly1811Ter)
3g.53801323G>ACA353251044CACNA1Dc.5366G>A (p.Gly1789Glu)
n.2305G>A
n.741G>A
c.5306G>A (p.Gly1769Glu)
c.5261G>A (p.Gly1754Glu)
c.1427G>A
n.662G>A
n.733G>A
c.5333G>A (p.Gly1778Glu)
n.60G>A
c.4385G>A (p.Gly1462Glu)
c.5561G>A (p.Gly1854Glu)
c.5450G>A (p.Gly1817Glu)
c.5372G>A (p.Gly1791Glu)
c.5024G>A (p.Gly1675Glu)
c.4649G>A (p.Gly1550Glu)
c.5456G>A (p.Gly1819Glu)
c.5558G>A (p.Gly1853Glu)
c.5501G>A (p.Gly1834Glu)
c.5477G>A (p.Gly1826Glu)
c.5432G>A (p.Gly1811Glu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.53801323G>CCA353251045CACNA1Dc.5366G>C (p.Gly1789Ala)
n.2305G>C
n.741G>C
c.5306G>C (p.Gly1769Ala)
c.5261G>C (p.Gly1754Ala)
c.1427G>C
n.662G>C
n.733G>C
c.5333G>C (p.Gly1778Ala)
n.60G>C
c.4385G>C (p.Gly1462Ala)
c.5561G>C (p.Gly1854Ala)
c.5450G>C (p.Gly1817Ala)
c.5372G>C (p.Gly1791Ala)
c.5024G>C (p.Gly1675Ala)
c.4649G>C (p.Gly1550Ala)
c.5456G>C (p.Gly1819Ala)
c.5558G>C (p.Gly1853Ala)
c.5501G>C (p.Gly1834Ala)
c.5477G>C (p.Gly1826Ala)
c.5432G>C (p.Gly1811Ala)
3g.53801323G=CA1365484202CACNA1Dc.5366G= (p.Gly1789=)
n.2305G=
n.741G=
c.5306G= (p.Gly1769=)
c.5261G= (p.Gly1754=)
c.1427G=
n.662G=
n.733G=
c.5333G= (p.Gly1778=)
n.60G=
c.4385G= (p.Gly1462=)
c.5561G= (p.Gly1854=)
c.5450G= (p.Gly1817=)
c.5372G= (p.Gly1791=)
c.5024G= (p.Gly1675=)
c.4649G= (p.Gly1550=)
c.5456G= (p.Gly1819=)
c.5558G= (p.Gly1853=)
c.5501G= (p.Gly1834=)
c.5477G= (p.Gly1826=)
c.5432G= (p.Gly1811=)
3g.53801323G>TCA353251046CACNA1Dc.5366G>T (p.Gly1789Val)
n.2305G>T
n.741G>T
c.5306G>T (p.Gly1769Val)
c.5261G>T (p.Gly1754Val)
c.1427G>T
n.662G>T
n.733G>T
c.5333G>T (p.Gly1778Val)
n.60G>T
c.4385G>T (p.Gly1462Val)
c.5561G>T (p.Gly1854Val)
c.5450G>T (p.Gly1817Val)
c.5372G>T (p.Gly1791Val)
c.5024G>T (p.Gly1675Val)
c.4649G>T (p.Gly1550Val)
c.5456G>T (p.Gly1819Val)
c.5558G>T (p.Gly1853Val)
c.5501G>T (p.Gly1834Val)
c.5477G>T (p.Gly1826Val)
c.5432G>T (p.Gly1811Val)
3g.53801324A=CA1365484203CACNA1Dc.5367A= (p.Gly1789=)
n.2306A=
n.742A=
c.5307A= (p.Gly1769=)
c.5262A= (p.Gly1754=)
c.1428A=
n.663A=
n.734A=
c.5334A= (p.Gly1778=)
n.61A=
c.4386A= (p.Gly1462=)
c.5562A= (p.Gly1854=)
c.5451A= (p.Gly1817=)
c.5373A= (p.Gly1791=)
c.5025A= (p.Gly1675=)
c.4650A= (p.Gly1550=)
c.5457A= (p.Gly1819=)
c.5559A= (p.Gly1853=)
c.5502A= (p.Gly1834=)
c.5478A= (p.Gly1826=)
c.5433A= (p.Gly1811=)
3g.53801324A>CCA433896191CACNA1Dc.5367A>C (p.Gly1789=)
n.2306A>C
n.742A>C
c.5307A>C (p.Gly1769=)
c.5262A>C (p.Gly1754=)
c.1428A>C
n.663A>C
n.734A>C
c.5334A>C (p.Gly1778=)
n.61A>C
c.4386A>C (p.Gly1462=)
c.5562A>C (p.Gly1854=)
c.5451A>C (p.Gly1817=)
c.5373A>C (p.Gly1791=)
c.5025A>C (p.Gly1675=)
c.4650A>C (p.Gly1550=)
c.5457A>C (p.Gly1819=)
c.5559A>C (p.Gly1853=)
c.5502A>C (p.Gly1834=)
c.5478A>C (p.Gly1826=)
c.5433A>C (p.Gly1811=)
3g.53801324A>GCA433896189CACNA1Dc.5367A>G (p.Gly1789=)
n.2306A>G
n.742A>G
c.5307A>G (p.Gly1769=)
c.5262A>G (p.Gly1754=)
c.1428A>G
n.663A>G
n.734A>G
c.5334A>G (p.Gly1778=)
n.61A>G
c.4386A>G (p.Gly1462=)
c.5562A>G (p.Gly1854=)
c.5451A>G (p.Gly1817=)
c.5373A>G (p.Gly1791=)
c.5025A>G (p.Gly1675=)
c.4650A>G (p.Gly1550=)
c.5457A>G (p.Gly1819=)
c.5559A>G (p.Gly1853=)
c.5502A>G (p.Gly1834=)
c.5478A>G (p.Gly1826=)
c.5433A>G (p.Gly1811=)
 dbSNP
3g.53801324A>TCA433896190CACNA1Dc.5367A>T (p.Gly1789=)
n.2306A>T
n.742A>T
c.5307A>T (p.Gly1769=)
c.5262A>T (p.Gly1754=)
c.1428A>T
n.663A>T
n.734A>T
c.5334A>T (p.Gly1778=)
n.61A>T
c.4386A>T (p.Gly1462=)
c.5562A>T (p.Gly1854=)
c.5451A>T (p.Gly1817=)
c.5373A>T (p.Gly1791=)
c.5025A>T (p.Gly1675=)
c.4650A>T (p.Gly1550=)
c.5457A>T (p.Gly1819=)
c.5559A>T (p.Gly1853=)
c.5502A>T (p.Gly1834=)
c.5478A>T (p.Gly1826=)
c.5433A>T (p.Gly1811=)
3g.53801325A>CCA353251049CACNA1Dc.5368A>C (p.Lys1790Gln)
n.2307A>C
n.743A>C
c.5308A>C (p.Lys1770Gln)
c.5263A>C (p.Lys1755Gln)
c.1429A>C
n.664A>C
n.735A>C
c.5335A>C (p.Lys1779Gln)
n.62A>C
c.4387A>C (p.Lys1463Gln)
c.5563A>C (p.Lys1855Gln)
c.5452A>C (p.Lys1818Gln)
c.5374A>C (p.Lys1792Gln)
c.5026A>C (p.Lys1676Gln)
c.4651A>C (p.Lys1551Gln)
c.5458A>C (p.Lys1820Gln)
c.5560A>C (p.Lys1854Gln)
c.5503A>C (p.Lys1835Gln)
c.5479A>C (p.Lys1827Gln)
c.5434A>C (p.Lys1812Gln)
3g.53801325A>GCA353251048CACNA1Dc.5368A>G (p.Lys1790Glu)
n.2307A>G
n.743A>G
c.5308A>G (p.Lys1770Glu)
c.5263A>G (p.Lys1755Glu)
c.1429A>G
n.664A>G
n.735A>G
c.5335A>G (p.Lys1779Glu)
n.62A>G
c.4387A>G (p.Lys1463Glu)
c.5563A>G (p.Lys1855Glu)
c.5452A>G (p.Lys1818Glu)
c.5374A>G (p.Lys1792Glu)
c.5026A>G (p.Lys1676Glu)
c.4651A>G (p.Lys1551Glu)
c.5458A>G (p.Lys1820Glu)
c.5560A>G (p.Lys1854Glu)
c.5503A>G (p.Lys1835Glu)
c.5479A>G (p.Lys1827Glu)
c.5434A>G (p.Lys1812Glu)
3g.53801325A>TCA353251047CACNA1Dc.5368A>T (p.Lys1790Ter)
n.2307A>T
n.743A>T
c.5308A>T (p.Lys1770Ter)
c.5263A>T (p.Lys1755Ter)
c.1429A>T
n.664A>T
n.735A>T
c.5335A>T (p.Lys1779Ter)
n.62A>T
c.4387A>T (p.Lys1463Ter)
c.5563A>T (p.Lys1855Ter)
c.5452A>T (p.Lys1818Ter)
c.5374A>T (p.Lys1792Ter)
c.5026A>T (p.Lys1676Ter)
c.4651A>T (p.Lys1551Ter)
c.5458A>T (p.Lys1820Ter)
c.5560A>T (p.Lys1854Ter)
c.5503A>T (p.Lys1835Ter)
c.5479A>T (p.Lys1827Ter)
c.5434A>T (p.Lys1812Ter)
3g.53801326A>CCA353251050CACNA1Dc.5369A>C (p.Lys1790Thr)
n.2308A>C
n.744A>C
c.5309A>C (p.Lys1770Thr)
c.5264A>C (p.Lys1755Thr)
c.1430A>C
n.665A>C
n.736A>C
c.5336A>C (p.Lys1779Thr)
n.63A>C
c.4388A>C (p.Lys1463Thr)
c.5564A>C (p.Lys1855Thr)
c.5453A>C (p.Lys1818Thr)
c.5375A>C (p.Lys1792Thr)
c.5027A>C (p.Lys1676Thr)
c.4652A>C (p.Lys1551Thr)
c.5459A>C (p.Lys1820Thr)
c.5561A>C (p.Lys1854Thr)
c.5504A>C (p.Lys1835Thr)
c.5480A>C (p.Lys1827Thr)
c.5435A>C (p.Lys1812Thr)
3g.53801326A>GCA353251051CACNA1Dc.5369A>G (p.Lys1790Arg)
n.2308A>G
n.744A>G
c.5309A>G (p.Lys1770Arg)
c.5264A>G (p.Lys1755Arg)
c.1430A>G
n.665A>G
n.736A>G
c.5336A>G (p.Lys1779Arg)
n.63A>G
c.4388A>G (p.Lys1463Arg)
c.5564A>G (p.Lys1855Arg)
c.5453A>G (p.Lys1818Arg)
c.5375A>G (p.Lys1792Arg)
c.5027A>G (p.Lys1676Arg)
c.4652A>G (p.Lys1551Arg)
c.5459A>G (p.Lys1820Arg)
c.5561A>G (p.Lys1854Arg)
c.5504A>G (p.Lys1835Arg)
c.5480A>G (p.Lys1827Arg)
c.5435A>G (p.Lys1812Arg)
3g.53801326A>TCA353251052CACNA1Dc.5369A>T (p.Lys1790Met)
n.2308A>T
n.744A>T
c.5309A>T (p.Lys1770Met)
c.5264A>T (p.Lys1755Met)
c.1430A>T
n.665A>T
n.736A>T
c.5336A>T (p.Lys1779Met)
n.63A>T
c.4388A>T (p.Lys1463Met)
c.5564A>T (p.Lys1855Met)
c.5453A>T (p.Lys1818Met)
c.5375A>T (p.Lys1792Met)
c.5027A>T (p.Lys1676Met)
c.4652A>T (p.Lys1551Met)
c.5459A>T (p.Lys1820Met)
c.5561A>T (p.Lys1854Met)
c.5504A>T (p.Lys1835Met)
c.5480A>T (p.Lys1827Met)
c.5435A>T (p.Lys1812Met)
3g.53801327G>ACA2455098CACNA1Dc.5370G>A (p.Lys1790=)
n.2309G>A
n.745G>A
c.5310G>A (p.Lys1770=)
c.5265G>A (p.Lys1755=)
c.1431G>A
n.666G>A
n.737G>A
c.5337G>A (p.Lys1779=)
n.64G>A
c.4389G>A (p.Lys1463=)
c.5565G>A (p.Lys1855=)
c.5454G>A (p.Lys1818=)
c.5376G>A (p.Lys1792=)
c.5028G>A (p.Lys1676=)
c.4653G>A (p.Lys1551=)
c.5460G>A (p.Lys1820=)
c.5562G>A (p.Lys1854=)
c.5505G>A (p.Lys1835=)
c.5481G>A (p.Lys1827=)
c.5436G>A (p.Lys1812=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.53801327G>CCA353251053CACNA1Dc.5370G>C (p.Lys1790Asn)
n.2309G>C
n.745G>C
c.5310G>C (p.Lys1770Asn)
c.5265G>C (p.Lys1755Asn)
c.1431G>C
n.666G>C
n.737G>C
c.5337G>C (p.Lys1779Asn)
n.64G>C
c.4389G>C (p.Lys1463Asn)
c.5565G>C (p.Lys1855Asn)
c.5454G>C (p.Lys1818Asn)
c.5376G>C (p.Lys1792Asn)
c.5028G>C (p.Lys1676Asn)
c.4653G>C (p.Lys1551Asn)
c.5460G>C (p.Lys1820Asn)
c.5562G>C (p.Lys1854Asn)
c.5505G>C (p.Lys1835Asn)
c.5481G>C (p.Lys1827Asn)
c.5436G>C (p.Lys1812Asn)
3g.53801327G=CA1365484204CACNA1Dc.5370G= (p.Lys1790=)
n.2309G=
n.745G=
c.5310G= (p.Lys1770=)
c.5265G= (p.Lys1755=)
c.1431G=
n.666G=
n.737G=
c.5337G= (p.Lys1779=)
n.64G=
c.4389G= (p.Lys1463=)
c.5565G= (p.Lys1855=)
c.5454G= (p.Lys1818=)
c.5376G= (p.Lys1792=)
c.5028G= (p.Lys1676=)
c.4653G= (p.Lys1551=)
c.5460G= (p.Lys1820=)
c.5562G= (p.Lys1854=)
c.5505G= (p.Lys1835=)
c.5481G= (p.Lys1827=)
c.5436G= (p.Lys1812=)
3g.53801327G>TCA353251054CACNA1Dc.5370G>T (p.Lys1790Asn)
n.2309G>T
n.745G>T
c.5310G>T (p.Lys1770Asn)
c.5265G>T (p.Lys1755Asn)
c.1431G>T
n.666G>T
n.737G>T
c.5337G>T (p.Lys1779Asn)
n.64G>T
c.4389G>T (p.Lys1463Asn)
c.5565G>T (p.Lys1855Asn)
c.5454G>T (p.Lys1818Asn)
c.5376G>T (p.Lys1792Asn)
c.5028G>T (p.Lys1676Asn)
c.4653G>T (p.Lys1551Asn)
c.5460G>T (p.Lys1820Asn)
c.5562G>T (p.Lys1854Asn)
c.5505G>T (p.Lys1835Asn)
c.5481G>T (p.Lys1827Asn)
c.5436G>T (p.Lys1812Asn)
3g.53801328C>ACA433896192CACNA1Dc.5371C>A (p.Arg1791=)
n.2310C>A
n.746C>A
c.5311C>A (p.Arg1771=)
c.5266C>A (p.Arg1756=)
c.1432C>A
n.667C>A
n.738C>A
c.5338C>A (p.Arg1780=)
n.65C>A
c.4390C>A (p.Arg1464=)
c.5566C>A (p.Arg1856=)
c.5455C>A (p.Arg1819=)
c.5377C>A (p.Arg1793=)
c.5029C>A (p.Arg1677=)
c.4654C>A (p.Arg1552=)
c.5461C>A (p.Arg1821=)
c.5563C>A (p.Arg1855=)
c.5506C>A (p.Arg1836=)
c.5482C>A (p.Arg1828=)
c.5437C>A (p.Arg1813=)
3g.53801328C=CA1365484205CACNA1Dc.5371C= (p.Arg1791=)
n.2310C=
n.746C=
c.5311C= (p.Arg1771=)
c.5266C= (p.Arg1756=)
c.1432C=
n.667C=
n.738C=
c.5338C= (p.Arg1780=)
n.65C=
c.4390C= (p.Arg1464=)
c.5566C= (p.Arg1856=)
c.5455C= (p.Arg1819=)
c.5377C= (p.Arg1793=)
c.5029C= (p.Arg1677=)
c.4654C= (p.Arg1552=)
c.5461C= (p.Arg1821=)
c.5563C= (p.Arg1855=)
c.5506C= (p.Arg1836=)
c.5482C= (p.Arg1828=)
c.5437C= (p.Arg1813=)
3g.53801328C>GCA353251055CACNA1Dc.5371C>G (p.Arg1791Gly)
n.2310C>G
n.746C>G
c.5311C>G (p.Arg1771Gly)
c.5266C>G (p.Arg1756Gly)
c.1432C>G
n.667C>G
n.738C>G
c.5338C>G (p.Arg1780Gly)
n.65C>G
c.4390C>G (p.Arg1464Gly)
c.5566C>G (p.Arg1856Gly)
c.5455C>G (p.Arg1819Gly)
c.5377C>G (p.Arg1793Gly)
c.5029C>G (p.Arg1677Gly)
c.4654C>G (p.Arg1552Gly)
c.5461C>G (p.Arg1821Gly)
c.5563C>G (p.Arg1855Gly)
c.5506C>G (p.Arg1836Gly)
c.5482C>G (p.Arg1828Gly)
c.5437C>G (p.Arg1813Gly)
3g.53801328C>TCA2455099CACNA1Dc.5371C>T (p.Arg1791Trp)
n.2310C>T
n.746C>T
c.5311C>T (p.Arg1771Trp)
c.5266C>T (p.Arg1756Trp)
c.1432C>T
n.667C>T
n.738C>T
c.5338C>T (p.Arg1780Trp)
n.65C>T
c.4390C>T (p.Arg1464Trp)
c.5566C>T (p.Arg1856Trp)
c.5455C>T (p.Arg1819Trp)
c.5377C>T (p.Arg1793Trp)
c.5029C>T (p.Arg1677Trp)
c.4654C>T (p.Arg1552Trp)
c.5461C>T (p.Arg1821Trp)
c.5563C>T (p.Arg1855Trp)
c.5506C>T (p.Arg1836Trp)
c.5482C>T (p.Arg1828Trp)
c.5437C>T (p.Arg1813Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.53801329G>ACA2455100CACNA1Dc.5372G>A (p.Arg1791Gln)
n.2311G>A
n.747G>A
c.5312G>A (p.Arg1771Gln)
c.5267G>A (p.Arg1756Gln)
c.1433G>A
n.668G>A
n.739G>A
c.5339G>A (p.Arg1780Gln)
n.66G>A
c.4391G>A (p.Arg1464Gln)
c.5567G>A (p.Arg1856Gln)
c.5456G>A (p.Arg1819Gln)
c.5378G>A (p.Arg1793Gln)
c.5030G>A (p.Arg1677Gln)
c.4655G>A (p.Arg1552Gln)
c.5462G>A (p.Arg1821Gln)
c.5564G>A (p.Arg1855Gln)
c.5507G>A (p.Arg1836Gln)
c.5483G>A (p.Arg1828Gln)
c.5438G>A (p.Arg1813Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.53801329G>CCA353251056CACNA1Dc.5372G>C (p.Arg1791Pro)
n.2311G>C
n.747G>C
c.5312G>C (p.Arg1771Pro)
c.5267G>C (p.Arg1756Pro)
c.1433G>C
n.668G>C
n.739G>C
c.5339G>C (p.Arg1780Pro)
n.66G>C
c.4391G>C (p.Arg1464Pro)
c.5567G>C (p.Arg1856Pro)
c.5456G>C (p.Arg1819Pro)
c.5378G>C (p.Arg1793Pro)
c.5030G>C (p.Arg1677Pro)
c.4655G>C (p.Arg1552Pro)
c.5462G>C (p.Arg1821Pro)
c.5564G>C (p.Arg1855Pro)
c.5507G>C (p.Arg1836Pro)
c.5483G>C (p.Arg1828Pro)
c.5438G>C (p.Arg1813Pro)
3g.53801329G=CA1365484206CACNA1Dc.5372G= (p.Arg1791=)
n.2311G=
n.747G=
c.5312G= (p.Arg1771=)
c.5267G= (p.Arg1756=)
c.1433G=
n.668G=
n.739G=
c.5339G= (p.Arg1780=)
n.66G=
c.4391G= (p.Arg1464=)
c.5567G= (p.Arg1856=)
c.5456G= (p.Arg1819=)
c.5378G= (p.Arg1793=)
c.5030G= (p.Arg1677=)
c.4655G= (p.Arg1552=)
c.5462G= (p.Arg1821=)
c.5564G= (p.Arg1855=)
c.5507G= (p.Arg1836=)
c.5483G= (p.Arg1828=)
c.5438G= (p.Arg1813=)
3g.53801329G>TCA353251057CACNA1Dc.5372G>T (p.Arg1791Leu)
n.2311G>T
n.747G>T
c.5312G>T (p.Arg1771Leu)
c.5267G>T (p.Arg1756Leu)
c.1433G>T
n.668G>T
n.739G>T
c.5339G>T (p.Arg1780Leu)
n.66G>T
c.4391G>T (p.Arg1464Leu)
c.5567G>T (p.Arg1856Leu)
c.5456G>T (p.Arg1819Leu)
c.5378G>T (p.Arg1793Leu)
c.5030G>T (p.Arg1677Leu)
c.4655G>T (p.Arg1552Leu)
c.5462G>T (p.Arg1821Leu)
c.5564G>T (p.Arg1855Leu)
c.5507G>T (p.Arg1836Leu)
c.5483G>T (p.Arg1828Leu)
c.5438G>T (p.Arg1813Leu)
3g.53801330G>ACA2455101CACNA1Dc.5373G>A (p.Arg1791=)
n.2312G>A
n.748G>A
c.5313G>A (p.Arg1771=)
c.5268G>A (p.Arg1756=)
c.1434G>A
n.669G>A
n.740G>A
c.5340G>A (p.Arg1780=)
n.67G>A
c.4392G>A (p.Arg1464=)
c.5568G>A (p.Arg1856=)
c.5457G>A (p.Arg1819=)
c.5379G>A (p.Arg1793=)
c.5031G>A (p.Arg1677=)
c.4656G>A (p.Arg1552=)
c.5463G>A (p.Arg1821=)
c.5565G>A (p.Arg1855=)
c.5508G>A (p.Arg1836=)
c.5484G>A (p.Arg1828=)
c.5439G>A (p.Arg1813=)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.53801330G>CCA433896193CACNA1Dc.5373G>C (p.Arg1791=)
n.2312G>C
n.748G>C
c.5313G>C (p.Arg1771=)
c.5268G>C (p.Arg1756=)
c.1434G>C
n.669G>C
n.740G>C
c.5340G>C (p.Arg1780=)
n.67G>C
c.4392G>C (p.Arg1464=)
c.5568G>C (p.Arg1856=)
c.5457G>C (p.Arg1819=)
c.5379G>C (p.Arg1793=)
c.5031G>C (p.Arg1677=)
c.4656G>C (p.Arg1552=)
c.5463G>C (p.Arg1821=)
c.5565G>C (p.Arg1855=)
c.5508G>C (p.Arg1836=)
c.5484G>C (p.Arg1828=)
c.5439G>C (p.Arg1813=)
3g.53801330G=CA1365484207CACNA1Dc.5373G= (p.Arg1791=)
n.2312G=
n.748G=
c.5313G= (p.Arg1771=)
c.5268G= (p.Arg1756=)
c.1434G=
n.669G=
n.740G=
c.5340G= (p.Arg1780=)
n.67G=
c.4392G= (p.Arg1464=)
c.5568G= (p.Arg1856=)
c.5457G= (p.Arg1819=)
c.5379G= (p.Arg1793=)
c.5031G= (p.Arg1677=)
c.4656G= (p.Arg1552=)
c.5463G= (p.Arg1821=)
c.5565G= (p.Arg1855=)
c.5508G= (p.Arg1836=)
c.5484G= (p.Arg1828=)
c.5439G= (p.Arg1813=)
3g.53801330G>TCA433896194CACNA1Dc.5373G>T (p.Arg1791=)
n.2312G>T
n.748G>T
c.5313G>T (p.Arg1771=)
c.5268G>T (p.Arg1756=)
c.1434G>T
n.669G>T
n.740G>T
c.5340G>T (p.Arg1780=)
n.67G>T
c.4392G>T (p.Arg1464=)
c.5568G>T (p.Arg1856=)
c.5457G>T (p.Arg1819=)
c.5379G>T (p.Arg1793=)
c.5031G>T (p.Arg1677=)
c.4656G>T (p.Arg1552=)
c.5463G>T (p.Arg1821=)
c.5565G>T (p.Arg1855=)
c.5508G>T (p.Arg1836=)
c.5484G>T (p.Arg1828=)
c.5439G>T (p.Arg1813=)
 gnomAD v4
3g.53801331C>ACA353251059CACNA1Dc.5374C>A (p.Pro1792Thr)
n.2313C>A
n.749C>A
c.5314C>A (p.Pro1772Thr)
c.5269C>A (p.Pro1757Thr)
c.1435C>A
n.670C>A
n.741C>A
c.5341C>A (p.Pro1781Thr)
n.68C>A
c.4393C>A (p.Pro1465Thr)
c.5569C>A (p.Pro1857Thr)
c.5458C>A (p.Pro1820Thr)
c.5380C>A (p.Pro1794Thr)
c.5032C>A (p.Pro1678Thr)
c.4657C>A (p.Pro1553Thr)
c.5464C>A (p.Pro1822Thr)
c.5566C>A (p.Pro1856Thr)
c.5509C>A (p.Pro1837Thr)
c.5485C>A (p.Pro1829Thr)
c.5440C>A (p.Pro1814Thr)
3g.53801331C=CA1365484208CACNA1Dc.5374C= (p.Pro1792=)
n.2313C=
n.749C=
c.5314C= (p.Pro1772=)
c.5269C= (p.Pro1757=)
c.1435C=
n.670C=
n.741C=
c.5341C= (p.Pro1781=)
n.68C=
c.4393C= (p.Pro1465=)
c.5569C= (p.Pro1857=)
c.5458C= (p.Pro1820=)
c.5380C= (p.Pro1794=)
c.5032C= (p.Pro1678=)
c.4657C= (p.Pro1553=)
c.5464C= (p.Pro1822=)
c.5566C= (p.Pro1856=)
c.5509C= (p.Pro1837=)
c.5485C= (p.Pro1829=)
c.5440C= (p.Pro1814=)
3g.53801331C>GCA353251058CACNA1Dc.5374C>G (p.Pro1792Ala)
n.2313C>G
n.749C>G
c.5314C>G (p.Pro1772Ala)
c.5269C>G (p.Pro1757Ala)
c.1435C>G
n.670C>G
n.741C>G
c.5341C>G (p.Pro1781Ala)
n.68C>G
c.4393C>G (p.Pro1465Ala)
c.5569C>G (p.Pro1857Ala)
c.5458C>G (p.Pro1820Ala)
c.5380C>G (p.Pro1794Ala)
c.5032C>G (p.Pro1678Ala)
c.4657C>G (p.Pro1553Ala)
c.5464C>G (p.Pro1822Ala)
c.5566C>G (p.Pro1856Ala)
c.5509C>G (p.Pro1837Ala)
c.5485C>G (p.Pro1829Ala)
c.5440C>G (p.Pro1814Ala)
3g.53801331C>TCA74859949CACNA1Dc.5374C>T (p.Pro1792Ser)
n.2313C>T
n.749C>T
c.5314C>T (p.Pro1772Ser)
c.5269C>T (p.Pro1757Ser)
c.1435C>T
n.670C>T
n.741C>T
c.5341C>T (p.Pro1781Ser)
n.68C>T
c.4393C>T (p.Pro1465Ser)
c.5569C>T (p.Pro1857Ser)
c.5458C>T (p.Pro1820Ser)
c.5380C>T (p.Pro1794Ser)
c.5032C>T (p.Pro1678Ser)
c.4657C>T (p.Pro1553Ser)
c.5464C>T (p.Pro1822Ser)
c.5566C>T (p.Pro1856Ser)
c.5509C>T (p.Pro1837Ser)
c.5485C>T (p.Pro1829Ser)
c.5440C>T (p.Pro1814Ser)
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.53801333delCA2666139600CACNA1Dc.5376del (p.Ser1793AlafsTer29)
n.2315del
n.751del
c.5316del (p.Ser1773AlafsTer29)
c.5271del (p.Ser1758AlafsTer29)
c.1437del
n.672del
n.743del
c.5343del (p.Ser1782AlafsTer29)
n.70del
c.4395del (p.Ser1466AlafsTer29)
c.5571del (p.Ser1858AlafsTer29)
c.5460del (p.Ser1821AlafsTer29)
c.5382del (p.Ser1795AlafsTer29)
c.5034del (p.Ser1679AlafsTer29)
c.4659del (p.Ser1554AlafsTer29)
c.5466del (p.Ser1823AlafsTer29)
c.5568del (p.Ser1857AlafsTer29)
c.5511del (p.Ser1838AlafsTer29)
c.5487del (p.Ser1830AlafsTer29)
c.5442del (p.Ser1815AlafsTer29)
 gnomAD v4
3g.53801332C>ACA353251060CACNA1Dc.5375C>A (p.Pro1792His)
n.2314C>A
n.750C>A
c.5315C>A (p.Pro1772His)
c.5270C>A (p.Pro1757His)
c.1436C>A
n.671C>A
n.742C>A
c.5342C>A (p.Pro1781His)
n.69C>A
c.4394C>A (p.Pro1465His)
c.5570C>A (p.Pro1857His)
c.5459C>A (p.Pro1820His)
c.5381C>A (p.Pro1794His)
c.5033C>A (p.Pro1678His)
c.4658C>A (p.Pro1553His)
c.5465C>A (p.Pro1822His)
c.5567C>A (p.Pro1856His)
c.5510C>A (p.Pro1837His)
c.5486C>A (p.Pro1829His)
c.5441C>A (p.Pro1814His)
3g.53801332C>GCA353251062CACNA1Dc.5375C>G (p.Pro1792Arg)
n.2314C>G
n.750C>G
c.5315C>G (p.Pro1772Arg)
c.5270C>G (p.Pro1757Arg)
c.1436C>G
n.671C>G
n.742C>G
c.5342C>G (p.Pro1781Arg)
n.69C>G
c.4394C>G (p.Pro1465Arg)
c.5570C>G (p.Pro1857Arg)
c.5459C>G (p.Pro1820Arg)
c.5381C>G (p.Pro1794Arg)
c.5033C>G (p.Pro1678Arg)
c.4658C>G (p.Pro1553Arg)
c.5465C>G (p.Pro1822Arg)
c.5567C>G (p.Pro1856Arg)
c.5510C>G (p.Pro1837Arg)
c.5486C>G (p.Pro1829Arg)
c.5441C>G (p.Pro1814Arg)
3g.53801332C>TCA353251061CACNA1Dc.5375C>T (p.Pro1792Leu)
n.2314C>T
n.750C>T
c.5315C>T (p.Pro1772Leu)
c.5270C>T (p.Pro1757Leu)
c.1436C>T
n.671C>T
n.742C>T
c.5342C>T (p.Pro1781Leu)
n.69C>T
c.4394C>T (p.Pro1465Leu)
c.5570C>T (p.Pro1857Leu)
c.5459C>T (p.Pro1820Leu)
c.5381C>T (p.Pro1794Leu)
c.5033C>T (p.Pro1678Leu)
c.4658C>T (p.Pro1553Leu)
c.5465C>T (p.Pro1822Leu)
c.5567C>T (p.Pro1856Leu)
c.5510C>T (p.Pro1837Leu)
c.5486C>T (p.Pro1829Leu)
c.5441C>T (p.Pro1814Leu)
3g.53801333C>ACA433896195CACNA1Dc.5376C>A (p.Pro1792=)
n.2315C>A
n.751C>A
c.5316C>A (p.Pro1772=)
c.5271C>A (p.Pro1757=)
c.1437C>A
n.672C>A
n.743C>A
c.5343C>A (p.Pro1781=)
n.70C>A
c.4395C>A (p.Pro1465=)
c.5571C>A (p.Pro1857=)
c.5460C>A (p.Pro1820=)
c.5382C>A (p.Pro1794=)
c.5034C>A (p.Pro1678=)
c.4659C>A (p.Pro1553=)
c.5466C>A (p.Pro1822=)
c.5568C>A (p.Pro1856=)
c.5511C>A (p.Pro1837=)
c.5487C>A (p.Pro1829=)
c.5442C>A (p.Pro1814=)
3g.53801333C=CA1365484209CACNA1Dc.5376C= (p.Pro1792=)
n.2315C=
n.751C=
c.5316C= (p.Pro1772=)
c.5271C= (p.Pro1757=)
c.1437C=
n.672C=
n.743C=
c.5343C= (p.Pro1781=)
n.70C=
c.4395C= (p.Pro1465=)
c.5571C= (p.Pro1857=)
c.5460C= (p.Pro1820=)
c.5382C= (p.Pro1794=)
c.5034C= (p.Pro1678=)
c.4659C= (p.Pro1553=)
c.5466C= (p.Pro1822=)
c.5568C= (p.Pro1856=)
c.5511C= (p.Pro1837=)
c.5487C= (p.Pro1829=)
c.5442C= (p.Pro1814=)
3g.53801333C>GCA433896196CACNA1Dc.5376C>G (p.Pro1792=)
n.2315C>G
n.751C>G
c.5316C>G (p.Pro1772=)
c.5271C>G (p.Pro1757=)
c.1437C>G
n.672C>G
n.743C>G
c.5343C>G (p.Pro1781=)
n.70C>G
c.4395C>G (p.Pro1465=)
c.5571C>G (p.Pro1857=)
c.5460C>G (p.Pro1820=)
c.5382C>G (p.Pro1794=)
c.5034C>G (p.Pro1678=)
c.4659C>G (p.Pro1553=)
c.5466C>G (p.Pro1822=)
c.5568C>G (p.Pro1856=)
c.5511C>G (p.Pro1837=)
c.5487C>G (p.Pro1829=)
c.5442C>G (p.Pro1814=)
 gnomAD v4
3g.53801333C>TCA433896197CACNA1Dc.5376C>T (p.Pro1792=)
n.2315C>T
n.751C>T
c.5316C>T (p.Pro1772=)
c.5271C>T (p.Pro1757=)
c.1437C>T
n.672C>T
n.743C>T
c.5343C>T (p.Pro1781=)
n.70C>T
c.4395C>T (p.Pro1465=)
c.5571C>T (p.Pro1857=)
c.5460C>T (p.Pro1820=)
c.5382C>T (p.Pro1794=)
c.5034C>T (p.Pro1678=)
c.4659C>T (p.Pro1553=)
c.5466C>T (p.Pro1822=)
c.5568C>T (p.Pro1856=)
c.5511C>T (p.Pro1837=)
c.5487C>T (p.Pro1829=)
c.5442C>T (p.Pro1814=)
 dbSNP gnomAD v2 gnomAD v4
3g.53801334A>CCA353251063CACNA1Dc.5377A>C (p.Ser1793Arg)
n.2316A>C
n.752A>C
c.5317A>C (p.Ser1773Arg)
c.5272A>C (p.Ser1758Arg)
c.1438A>C
n.673A>C
n.744A>C
c.5344A>C (p.Ser1782Arg)
n.71A>C
c.4396A>C (p.Ser1466Arg)
c.5572A>C (p.Ser1858Arg)
c.5461A>C (p.Ser1821Arg)
c.5383A>C (p.Ser1795Arg)
c.5035A>C (p.Ser1679Arg)
c.4660A>C (p.Ser1554Arg)
c.5467A>C (p.Ser1823Arg)
c.5569A>C (p.Ser1857Arg)
c.5512A>C (p.Ser1838Arg)
c.5488A>C (p.Ser1830Arg)
c.5443A>C (p.Ser1815Arg)
3g.53801334A>GCA353251065CACNA1Dc.5377A>G (p.Ser1793Gly)
n.2316A>G
n.752A>G
c.5317A>G (p.Ser1773Gly)
c.5272A>G (p.Ser1758Gly)
c.1438A>G
n.673A>G
n.744A>G
c.5344A>G (p.Ser1782Gly)
n.71A>G
c.4396A>G (p.Ser1466Gly)
c.5572A>G (p.Ser1858Gly)
c.5461A>G (p.Ser1821Gly)
c.5383A>G (p.Ser1795Gly)
c.5035A>G (p.Ser1679Gly)
c.4660A>G (p.Ser1554Gly)
c.5467A>G (p.Ser1823Gly)
c.5569A>G (p.Ser1857Gly)
c.5512A>G (p.Ser1838Gly)
c.5488A>G (p.Ser1830Gly)
c.5443A>G (p.Ser1815Gly)
3g.53801334A>TCA353251064CACNA1Dc.5377A>T (p.Ser1793Cys)
n.2316A>T
n.752A>T
c.5317A>T (p.Ser1773Cys)
c.5272A>T (p.Ser1758Cys)
c.1438A>T
n.673A>T
n.744A>T
c.5344A>T (p.Ser1782Cys)
n.71A>T
c.4396A>T (p.Ser1466Cys)
c.5572A>T (p.Ser1858Cys)
c.5461A>T (p.Ser1821Cys)
c.5383A>T (p.Ser1795Cys)
c.5035A>T (p.Ser1679Cys)
c.4660A>T (p.Ser1554Cys)
c.5467A>T (p.Ser1823Cys)
c.5569A>T (p.Ser1857Cys)
c.5512A>T (p.Ser1838Cys)
c.5488A>T (p.Ser1830Cys)
c.5443A>T (p.Ser1815Cys)
3g.53801335G>ACA353251066CACNA1Dc.5378G>A (p.Ser1793Asn)
n.2317G>A
n.753G>A
c.5318G>A (p.Ser1773Asn)
c.5273G>A (p.Ser1758Asn)
c.1439G>A
n.674G>A
n.745G>A
c.5345G>A (p.Ser1782Asn)
n.72G>A
c.4397G>A (p.Ser1466Asn)
c.5573G>A (p.Ser1858Asn)
c.5462G>A (p.Ser1821Asn)
c.5384G>A (p.Ser1795Asn)
c.5036G>A (p.Ser1679Asn)
c.4661G>A (p.Ser1554Asn)
c.5468G>A (p.Ser1823Asn)
c.5570G>A (p.Ser1857Asn)
c.5513G>A (p.Ser1838Asn)
c.5489G>A (p.Ser1830Asn)
c.5444G>A (p.Ser1815Asn)
 gnomAD v4
3g.53801335G>CCA353251067CACNA1Dc.5378G>C (p.Ser1793Thr)
n.2317G>C
n.753G>C
c.5318G>C (p.Ser1773Thr)
c.5273G>C (p.Ser1758Thr)
c.1439G>C
n.674G>C
n.745G>C
c.5345G>C (p.Ser1782Thr)
n.72G>C
c.4397G>C (p.Ser1466Thr)
c.5573G>C (p.Ser1858Thr)
c.5462G>C (p.Ser1821Thr)
c.5384G>C (p.Ser1795Thr)
c.5036G>C (p.Ser1679Thr)
c.4661G>C (p.Ser1554Thr)
c.5468G>C (p.Ser1823Thr)
c.5570G>C (p.Ser1857Thr)
c.5513G>C (p.Ser1838Thr)
c.5489G>C (p.Ser1830Thr)
c.5444G>C (p.Ser1815Thr)
3g.53801335G>TCA353251068CACNA1Dc.5378G>T (p.Ser1793Ile)
n.2317G>T
n.753G>T
c.5318G>T (p.Ser1773Ile)
c.5273G>T (p.Ser1758Ile)
c.1439G>T
n.674G>T
n.745G>T
c.5345G>T (p.Ser1782Ile)
n.72G>T
c.4397G>T (p.Ser1466Ile)
c.5573G>T (p.Ser1858Ile)
c.5462G>T (p.Ser1821Ile)
c.5384G>T (p.Ser1795Ile)
c.5036G>T (p.Ser1679Ile)
c.4661G>T (p.Ser1554Ile)
c.5468G>T (p.Ser1823Ile)
c.5570G>T (p.Ser1857Ile)
c.5513G>T (p.Ser1838Ile)
c.5489G>T (p.Ser1830Ile)
c.5444G>T (p.Ser1815Ile)
3g.53801336C>ACA353251069CACNA1Dc.5379C>A (p.Ser1793Arg)
n.2318C>A
n.754C>A
c.5319C>A (p.Ser1773Arg)
c.5274C>A (p.Ser1758Arg)
c.1440C>A
n.675C>A
n.746C>A
c.5346C>A (p.Ser1782Arg)
n.73C>A
c.4398C>A (p.Ser1466Arg)
c.5574C>A (p.Ser1858Arg)
c.5463C>A (p.Ser1821Arg)
c.5385C>A (p.Ser1795Arg)
c.5037C>A (p.Ser1679Arg)
c.4662C>A (p.Ser1554Arg)
c.5469C>A (p.Ser1823Arg)
c.5571C>A (p.Ser1857Arg)
c.5514C>A (p.Ser1838Arg)
c.5490C>A (p.Ser1830Arg)
c.5445C>A (p.Ser1815Arg)
3g.53801336C=CA1365484210CACNA1Dc.5379C= (p.Ser1793=)
n.2318C=
n.754C=
c.5319C= (p.Ser1773=)
c.5274C= (p.Ser1758=)
c.1440C=
n.675C=
n.746C=
c.5346C= (p.Ser1782=)
n.73C=
c.4398C= (p.Ser1466=)
c.5574C= (p.Ser1858=)
c.5463C= (p.Ser1821=)
c.5385C= (p.Ser1795=)
c.5037C= (p.Ser1679=)
c.4662C= (p.Ser1554=)
c.5469C= (p.Ser1823=)
c.5571C= (p.Ser1857=)
c.5514C= (p.Ser1838=)
c.5490C= (p.Ser1830=)
c.5445C= (p.Ser1815=)
3g.53801336C>GCA353251070CACNA1Dc.5379C>G (p.Ser1793Arg)
n.2318C>G
n.754C>G
c.5319C>G (p.Ser1773Arg)
c.5274C>G (p.Ser1758Arg)
c.1440C>G
n.675C>G
n.746C>G
c.5346C>G (p.Ser1782Arg)
n.73C>G
c.4398C>G (p.Ser1466Arg)
c.5574C>G (p.Ser1858Arg)
c.5463C>G (p.Ser1821Arg)
c.5385C>G (p.Ser1795Arg)
c.5037C>G (p.Ser1679Arg)
c.4662C>G (p.Ser1554Arg)
c.5469C>G (p.Ser1823Arg)
c.5571C>G (p.Ser1857Arg)
c.5514C>G (p.Ser1838Arg)
c.5490C>G (p.Ser1830Arg)
c.5445C>G (p.Ser1815Arg)
3g.53801336C>TCA74859953CACNA1Dc.5379C>T (p.Ser1793=)
n.2318C>T
n.754C>T
c.5319C>T (p.Ser1773=)
c.5274C>T (p.Ser1758=)
c.1440C>T
n.675C>T
n.746C>T
c.5346C>T (p.Ser1782=)
n.73C>T
c.4398C>T (p.Ser1466=)
c.5574C>T (p.Ser1858=)
c.5463C>T (p.Ser1821=)
c.5385C>T (p.Ser1795=)
c.5037C>T (p.Ser1679=)
c.4662C>T (p.Ser1554=)
c.5469C>T (p.Ser1823=)
c.5571C>T (p.Ser1857=)
c.5514C>T (p.Ser1838=)
c.5490C>T (p.Ser1830=)
c.5445C>T (p.Ser1815=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.53801337A=CA1365484211CACNA1Dc.5380A= (p.Ile1794=)
n.2319A=
n.755A=
c.5320A= (p.Ile1774=)
c.5275A= (p.Ile1759=)
c.1441A=
n.676A=
n.747A=
c.5347A= (p.Ile1783=)
n.74A=
c.4399A= (p.Ile1467=)
c.5575A= (p.Ile1859=)
c.5464A= (p.Ile1822=)
c.5386A= (p.Ile1796=)
c.5038A= (p.Ile1680=)
c.4663A= (p.Ile1555=)
c.5470A= (p.Ile1824=)
c.5572A= (p.Ile1858=)
c.5515A= (p.Ile1839=)
c.5491A= (p.Ile1831=)
c.5446A= (p.Ile1816=)
3g.53801337A>CCA2455102CACNA1Dc.5380A>C (p.Ile1794Leu)
n.2319A>C
n.755A>C
c.5320A>C (p.Ile1774Leu)
c.5275A>C (p.Ile1759Leu)
c.1441A>C
n.676A>C
n.747A>C
c.5347A>C (p.Ile1783Leu)
n.74A>C
c.4399A>C (p.Ile1467Leu)
c.5575A>C (p.Ile1859Leu)
c.5464A>C (p.Ile1822Leu)
c.5386A>C (p.Ile1796Leu)
c.5038A>C (p.Ile1680Leu)
c.4663A>C (p.Ile1555Leu)
c.5470A>C (p.Ile1824Leu)
c.5572A>C (p.Ile1858Leu)
c.5515A>C (p.Ile1839Leu)
c.5491A>C (p.Ile1831Leu)
c.5446A>C (p.Ile1816Leu)
 dbSNP ExAC
3g.53801337A>GCA353251071CACNA1Dc.5380A>G (p.Ile1794Val)
n.2319A>G
n.755A>G
c.5320A>G (p.Ile1774Val)
c.5275A>G (p.Ile1759Val)
c.1441A>G
n.676A>G
n.747A>G
c.5347A>G (p.Ile1783Val)
n.74A>G
c.4399A>G (p.Ile1467Val)
c.5575A>G (p.Ile1859Val)
c.5464A>G (p.Ile1822Val)
c.5386A>G (p.Ile1796Val)
c.5038A>G (p.Ile1680Val)
c.4663A>G (p.Ile1555Val)
c.5470A>G (p.Ile1824Val)
c.5572A>G (p.Ile1858Val)
c.5515A>G (p.Ile1839Val)
c.5491A>G (p.Ile1831Val)
c.5446A>G (p.Ile1816Val)
3g.53801337A>TCA353251072CACNA1Dc.5380A>T (p.Ile1794Phe)
n.2319A>T
n.755A>T
c.5320A>T (p.Ile1774Phe)
c.5275A>T (p.Ile1759Phe)
c.1441A>T
n.676A>T
n.747A>T
c.5347A>T (p.Ile1783Phe)
n.74A>T
c.4399A>T (p.Ile1467Phe)
c.5575A>T (p.Ile1859Phe)
c.5464A>T (p.Ile1822Phe)
c.5386A>T (p.Ile1796Phe)
c.5038A>T (p.Ile1680Phe)
c.4663A>T (p.Ile1555Phe)
c.5470A>T (p.Ile1824Phe)
c.5572A>T (p.Ile1858Phe)
c.5515A>T (p.Ile1839Phe)
c.5491A>T (p.Ile1831Phe)
c.5446A>T (p.Ile1816Phe)
 gnomAD v4
3g.53801338T>ACA2455103CACNA1Dc.5381T>A (p.Ile1794Asn)
n.2320T>A
n.756T>A
c.5321T>A (p.Ile1774Asn)
c.5276T>A (p.Ile1759Asn)
c.1442T>A
n.677T>A
n.748T>A
c.5348T>A (p.Ile1783Asn)
n.75T>A
c.4400T>A (p.Ile1467Asn)
c.5576T>A (p.Ile1859Asn)
c.5465T>A (p.Ile1822Asn)
c.5387T>A (p.Ile1796Asn)
c.5039T>A (p.Ile1680Asn)
c.4664T>A (p.Ile1555Asn)
c.5471T>A (p.Ile1824Asn)
c.5573T>A (p.Ile1858Asn)
c.5516T>A (p.Ile1839Asn)
c.5492T>A (p.Ile1831Asn)
c.5447T>A (p.Ile1816Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.53801338T>CCA353251073CACNA1Dc.5381T>C (p.Ile1794Thr)
n.2320T>C
n.756T>C
c.5321T>C (p.Ile1774Thr)
c.5276T>C (p.Ile1759Thr)
c.1442T>C
n.677T>C
n.748T>C
c.5348T>C (p.Ile1783Thr)
n.75T>C
c.4400T>C (p.Ile1467Thr)
c.5576T>C (p.Ile1859Thr)
c.5465T>C (p.Ile1822Thr)
c.5387T>C (p.Ile1796Thr)
c.5039T>C (p.Ile1680Thr)
c.4664T>C (p.Ile1555Thr)
c.5471T>C (p.Ile1824Thr)
c.5573T>C (p.Ile1858Thr)
c.5516T>C (p.Ile1839Thr)
c.5492T>C (p.Ile1831Thr)
c.5447T>C (p.Ile1816Thr)
 gnomAD v4
3g.53801338T>GCA353251074CACNA1Dc.5381T>G (p.Ile1794Ser)
n.2320T>G
n.756T>G
c.5321T>G (p.Ile1774Ser)
c.5276T>G (p.Ile1759Ser)
c.1442T>G
n.677T>G
n.748T>G
c.5348T>G (p.Ile1783Ser)
n.75T>G
c.4400T>G (p.Ile1467Ser)
c.5576T>G (p.Ile1859Ser)
c.5465T>G (p.Ile1822Ser)
c.5387T>G (p.Ile1796Ser)
c.5039T>G (p.Ile1680Ser)
c.4664T>G (p.Ile1555Ser)
c.5471T>G (p.Ile1824Ser)
c.5573T>G (p.Ile1858Ser)
c.5516T>G (p.Ile1839Ser)
c.5492T>G (p.Ile1831Ser)
c.5447T>G (p.Ile1816Ser)
3g.53801338T=CA1365484212CACNA1Dc.5381T= (p.Ile1794=)
n.2320T=
n.756T=
c.5321T= (p.Ile1774=)
c.5276T= (p.Ile1759=)
c.1442T=
n.677T=
n.748T=
c.5348T= (p.Ile1783=)
n.75T=
c.4400T= (p.Ile1467=)
c.5576T= (p.Ile1859=)
c.5465T= (p.Ile1822=)
c.5387T= (p.Ile1796=)
c.5039T= (p.Ile1680=)
c.4664T= (p.Ile1555=)
c.5471T= (p.Ile1824=)
c.5573T= (p.Ile1858=)
c.5516T= (p.Ile1839=)
c.5492T= (p.Ile1831=)
c.5447T= (p.Ile1816=)
3g.53801339T>ACA433896198CACNA1Dc.5382T>A (p.Ile1794=)
n.2321T>A
n.757T>A
c.5322T>A (p.Ile1774=)
c.5277T>A (p.Ile1759=)
c.1443T>A
n.678T>A
n.749T>A
c.5349T>A (p.Ile1783=)
n.76T>A
c.4401T>A (p.Ile1467=)
c.5577T>A (p.Ile1859=)
c.5466T>A (p.Ile1822=)
c.5388T>A (p.Ile1796=)
c.5040T>A (p.Ile1680=)
c.4665T>A (p.Ile1555=)
c.5472T>A (p.Ile1824=)
c.5574T>A (p.Ile1858=)
c.5517T>A (p.Ile1839=)
c.5493T>A (p.Ile1831=)
c.5448T>A (p.Ile1816=)
3g.53801339T>CCA433896199CACNA1Dc.5382T>C (p.Ile1794=)
n.2321T>C
n.757T>C
c.5322T>C (p.Ile1774=)
c.5277T>C (p.Ile1759=)
c.1443T>C
n.678T>C
n.749T>C
c.5349T>C (p.Ile1783=)
n.76T>C
c.4401T>C (p.Ile1467=)
c.5577T>C (p.Ile1859=)
c.5466T>C (p.Ile1822=)
c.5388T>C (p.Ile1796=)
c.5040T>C (p.Ile1680=)
c.4665T>C (p.Ile1555=)
c.5472T>C (p.Ile1824=)
c.5574T>C (p.Ile1858=)
c.5517T>C (p.Ile1839=)
c.5493T>C (p.Ile1831=)
c.5448T>C (p.Ile1816=)
3g.53801339T>GCA2455104CACNA1Dc.5382T>G (p.Ile1794Met)
n.2321T>G
n.757T>G
c.5322T>G (p.Ile1774Met)
c.5277T>G (p.Ile1759Met)
c.1443T>G
n.678T>G
n.749T>G
c.5349T>G (p.Ile1783Met)
n.76T>G
c.4401T>G (p.Ile1467Met)
c.5577T>G (p.Ile1859Met)
c.5466T>G (p.Ile1822Met)
c.5388T>G (p.Ile1796Met)
c.5040T>G (p.Ile1680Met)
c.4665T>G (p.Ile1555Met)
c.5472T>G (p.Ile1824Met)
c.5574T>G (p.Ile1858Met)
c.5517T>G (p.Ile1839Met)
c.5493T>G (p.Ile1831Met)
c.5448T>G (p.Ile1816Met)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.53801339T=CA1365484213CACNA1Dc.5382T= (p.Ile1794=)
n.2321T=
n.757T=
c.5322T= (p.Ile1774=)
c.5277T= (p.Ile1759=)
c.1443T=
n.678T=
n.749T=
c.5349T= (p.Ile1783=)
n.76T=
c.4401T= (p.Ile1467=)
c.5577T= (p.Ile1859=)
c.5466T= (p.Ile1822=)
c.5388T= (p.Ile1796=)
c.5040T= (p.Ile1680=)
c.4665T= (p.Ile1555=)
c.5472T= (p.Ile1824=)
c.5574T= (p.Ile1858=)
c.5517T= (p.Ile1839=)
c.5493T= (p.Ile1831=)
c.5448T= (p.Ile1816=)
3g.53801340G>ACA353251077CACNA1Dc.5383G>A (p.Gly1795Arg)
n.2322G>A
n.758G>A
c.5323G>A (p.Gly1775Arg)
c.5278G>A (p.Gly1760Arg)
c.1444G>A
n.679G>A
n.750G>A
c.5350G>A (p.Gly1784Arg)
n.77G>A
c.4402G>A (p.Gly1468Arg)
c.5578G>A (p.Gly1860Arg)
c.5467G>A (p.Gly1823Arg)
c.5389G>A (p.Gly1797Arg)
c.5041G>A (p.Gly1681Arg)
c.4666G>A (p.Gly1556Arg)
c.5473G>A (p.Gly1825Arg)
c.5575G>A (p.Gly1859Arg)
c.5518G>A (p.Gly1840Arg)
c.5494G>A (p.Gly1832Arg)
c.5449G>A (p.Gly1817Arg)
 gnomAD v4
3g.53801340G>CCA353251075CACNA1Dc.5383G>C (p.Gly1795Arg)
n.2322G>C
n.758G>C
c.5323G>C (p.Gly1775Arg)
c.5278G>C (p.Gly1760Arg)
c.1444G>C
n.679G>C
n.750G>C
c.5350G>C (p.Gly1784Arg)
n.77G>C
c.4402G>C (p.Gly1468Arg)
c.5578G>C (p.Gly1860Arg)
c.5467G>C (p.Gly1823Arg)
c.5389G>C (p.Gly1797Arg)
c.5041G>C (p.Gly1681Arg)
c.4666G>C (p.Gly1556Arg)
c.5473G>C (p.Gly1825Arg)
c.5575G>C (p.Gly1859Arg)
c.5518G>C (p.Gly1840Arg)
c.5494G>C (p.Gly1832Arg)
c.5449G>C (p.Gly1817Arg)
3g.53801340G>TCA353251076CACNA1Dc.5383G>T (p.Gly1795Trp)
n.2322G>T
n.758G>T
c.5323G>T (p.Gly1775Trp)
c.5278G>T (p.Gly1760Trp)
c.1444G>T
n.679G>T
n.750G>T
c.5350G>T (p.Gly1784Trp)
n.77G>T
c.4402G>T (p.Gly1468Trp)
c.5578G>T (p.Gly1860Trp)
c.5467G>T (p.Gly1823Trp)
c.5389G>T (p.Gly1797Trp)
c.5041G>T (p.Gly1681Trp)
c.4666G>T (p.Gly1556Trp)
c.5473G>T (p.Gly1825Trp)
c.5575G>T (p.Gly1859Trp)
c.5518G>T (p.Gly1840Trp)
c.5494G>T (p.Gly1832Trp)
c.5449G>T (p.Gly1817Trp)
 gnomAD v4
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)

Number of alleles fetched