Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.2686216G>ACA383382645CACNA1C,CACNA1C-AS1c.5806G>A (p.Gly1936Arg)
c.5836G>A (p.Gly1946Arg)
c.5911G>A (p.Gly1971Arg)
c.5944G>A (p.Gly1982Arg)
c.5773G>A (p.Gly1925Arg)
c.5821G>A (p.Gly1941Arg)
c.6070G>A (p.Gly2024Arg)
c.5698G>A (p.Gly1900Arg)
c.5731G>A (p.Gly1911Arg)
c.5722G>A (p.Gly1908Arg)
c.5896G>A (p.Gly1966Arg)
n.856G>A
n.2234G>A
n.861G>A
c.5875G>A (p.Gly1959Arg)
c.5854G>A (p.Gly1952Arg)
c.5755G>A (p.Gly1919Arg)
c.5791G>A (p.Gly1931Arg)
c.5788G>A (p.Gly1930Arg)
c.5782G>A (p.Gly1928Arg)
c.5815G>A (p.Gly1939Arg)
c.5749G>A (p.Gly1917Arg)
c.5359G>A (p.Gly1787Arg)
c.5503G>A (p.Gly1835Arg)
c.5398G>A (p.Gly1800Arg)
c.1804G>A (p.Gly602Arg)
c.5434G>A (p.Gly1812Arg)
c.5980G>A (p.Gly1994Arg)
n.333+3924C>T
c.5350G>A (p.Gly1784Arg)
c.4795G>A (p.Gly1599Arg)
c.2905G>A (p.Gly969Arg)
c.6049G>A (p.Gly2017Arg)
c.6553G>A (p.Gly2185Arg)
c.6448G>A (p.Gly2150Arg)
c.6235G>A (p.Gly2079Arg)
c.6178G>A (p.Gly2060Arg)
c.6094G>A (p.Gly2032Arg)
c.6079G>A (p.Gly2027Arg)
c.5983G>A (p.Gly1995Arg)
c.5974G>A (p.Gly1992Arg)
c.5956G>A (p.Gly1986Arg)
c.5950G>A (p.Gly1984Arg)
c.5923G>A (p.Gly1975Arg)
c.5917G>A (p.Gly1973Arg)
c.5899G>A (p.Gly1967Arg)
c.5893G>A (p.Gly1965Arg)
c.5890G>A (p.Gly1964Arg)
c.5866G>A (p.Gly1956Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.2686216G>CCA236625CACNA1C,CACNA1C-AS1c.5806G>C (p.Gly1936Arg)
c.5836G>C (p.Gly1946Arg)
c.5911G>C (p.Gly1971Arg)
c.5944G>C (p.Gly1982Arg)
c.5773G>C (p.Gly1925Arg)
c.5821G>C (p.Gly1941Arg)
c.6070G>C (p.Gly2024Arg)
c.5698G>C (p.Gly1900Arg)
c.5731G>C (p.Gly1911Arg)
c.5722G>C (p.Gly1908Arg)
c.5896G>C (p.Gly1966Arg)
n.856G>C
n.2234G>C
n.861G>C
c.5875G>C (p.Gly1959Arg)
c.5854G>C (p.Gly1952Arg)
c.5755G>C (p.Gly1919Arg)
c.5791G>C (p.Gly1931Arg)
c.5788G>C (p.Gly1930Arg)
c.5782G>C (p.Gly1928Arg)
c.5815G>C (p.Gly1939Arg)
c.5749G>C (p.Gly1917Arg)
c.5359G>C (p.Gly1787Arg)
c.5503G>C (p.Gly1835Arg)
c.5398G>C (p.Gly1800Arg)
c.1804G>C (p.Gly602Arg)
c.5434G>C (p.Gly1812Arg)
c.5980G>C (p.Gly1994Arg)
n.333+3924C>G
c.5350G>C (p.Gly1784Arg)
c.4795G>C (p.Gly1599Arg)
c.2905G>C (p.Gly969Arg)
c.6049G>C (p.Gly2017Arg)
c.6553G>C (p.Gly2185Arg)
c.6448G>C (p.Gly2150Arg)
c.6235G>C (p.Gly2079Arg)
c.6178G>C (p.Gly2060Arg)
c.6094G>C (p.Gly2032Arg)
c.6079G>C (p.Gly2027Arg)
c.5983G>C (p.Gly1995Arg)
c.5974G>C (p.Gly1992Arg)
c.5956G>C (p.Gly1986Arg)
c.5950G>C (p.Gly1984Arg)
c.5923G>C (p.Gly1975Arg)
c.5917G>C (p.Gly1973Arg)
c.5899G>C (p.Gly1967Arg)
c.5893G>C (p.Gly1965Arg)
c.5890G>C (p.Gly1964Arg)
c.5866G>C (p.Gly1956Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.2686216G=CA2012350973CACNA1C,CACNA1C-AS1c.5806G= (p.Gly1936=)
c.5836G= (p.Gly1946=)
c.5911G= (p.Gly1971=)
c.5944G= (p.Gly1982=)
c.5773G= (p.Gly1925=)
c.5821G= (p.Gly1941=)
c.6070G= (p.Gly2024=)
c.5698G= (p.Gly1900=)
c.5731G= (p.Gly1911=)
c.5722G= (p.Gly1908=)
c.5896G= (p.Gly1966=)
n.856G=
n.2234G=
n.861G=
c.5875G= (p.Gly1959=)
c.5854G= (p.Gly1952=)
c.5755G= (p.Gly1919=)
c.5791G= (p.Gly1931=)
c.5788G= (p.Gly1930=)
c.5782G= (p.Gly1928=)
c.5815G= (p.Gly1939=)
c.5749G= (p.Gly1917=)
c.5359G= (p.Gly1787=)
c.5503G= (p.Gly1835=)
c.5398G= (p.Gly1800=)
c.1804G= (p.Gly602=)
c.5434G= (p.Gly1812=)
c.5980G= (p.Gly1994=)
n.333+3924C=
c.5350G= (p.Gly1784=)
c.4795G= (p.Gly1599=)
c.2905G= (p.Gly969=)
c.6049G= (p.Gly2017=)
c.6553G= (p.Gly2185=)
c.6448G= (p.Gly2150=)
c.6235G= (p.Gly2079=)
c.6178G= (p.Gly2060=)
c.6094G= (p.Gly2032=)
c.6079G= (p.Gly2027=)
c.5983G= (p.Gly1995=)
c.5974G= (p.Gly1992=)
c.5956G= (p.Gly1986=)
c.5950G= (p.Gly1984=)
c.5923G= (p.Gly1975=)
c.5917G= (p.Gly1973=)
c.5899G= (p.Gly1967=)
c.5893G= (p.Gly1965=)
c.5890G= (p.Gly1964=)
c.5866G= (p.Gly1956=)
12g.2686216G>TCA383382646CACNA1C,CACNA1C-AS1c.5806G>T (p.Gly1936Trp)
c.5836G>T (p.Gly1946Trp)
c.5911G>T (p.Gly1971Trp)
c.5944G>T (p.Gly1982Trp)
c.5773G>T (p.Gly1925Trp)
c.5821G>T (p.Gly1941Trp)
c.6070G>T (p.Gly2024Trp)
c.5698G>T (p.Gly1900Trp)
c.5731G>T (p.Gly1911Trp)
c.5722G>T (p.Gly1908Trp)
c.5896G>T (p.Gly1966Trp)
n.856G>T
n.2234G>T
n.861G>T
c.5875G>T (p.Gly1959Trp)
c.5854G>T (p.Gly1952Trp)
c.5755G>T (p.Gly1919Trp)
c.5791G>T (p.Gly1931Trp)
c.5788G>T (p.Gly1930Trp)
c.5782G>T (p.Gly1928Trp)
c.5815G>T (p.Gly1939Trp)
c.5749G>T (p.Gly1917Trp)
c.5359G>T (p.Gly1787Trp)
c.5503G>T (p.Gly1835Trp)
c.5398G>T (p.Gly1800Trp)
c.1804G>T (p.Gly602Trp)
c.5434G>T (p.Gly1812Trp)
c.5980G>T (p.Gly1994Trp)
n.333+3924C>A
c.5350G>T (p.Gly1784Trp)
c.4795G>T (p.Gly1599Trp)
c.2905G>T (p.Gly969Trp)
c.6049G>T (p.Gly2017Trp)
c.6553G>T (p.Gly2185Trp)
c.6448G>T (p.Gly2150Trp)
c.6235G>T (p.Gly2079Trp)
c.6178G>T (p.Gly2060Trp)
c.6094G>T (p.Gly2032Trp)
c.6079G>T (p.Gly2027Trp)
c.5983G>T (p.Gly1995Trp)
c.5974G>T (p.Gly1992Trp)
c.5956G>T (p.Gly1986Trp)
c.5950G>T (p.Gly1984Trp)
c.5923G>T (p.Gly1975Trp)
c.5917G>T (p.Gly1973Trp)
c.5899G>T (p.Gly1967Trp)
c.5893G>T (p.Gly1965Trp)
c.5890G>T (p.Gly1964Trp)
c.5866G>T (p.Gly1956Trp)
12g.2686217G>ACA6389958CACNA1C,CACNA1C-AS1c.5807G>A (p.Gly1936Glu)
c.5837G>A (p.Gly1946Glu)
c.5912G>A (p.Gly1971Glu)
c.5945G>A (p.Gly1982Glu)
c.5774G>A (p.Gly1925Glu)
c.5822G>A (p.Gly1941Glu)
c.6071G>A (p.Gly2024Glu)
c.5699G>A (p.Gly1900Glu)
c.5732G>A (p.Gly1911Glu)
c.5723G>A (p.Gly1908Glu)
c.5897G>A (p.Gly1966Glu)
n.857G>A
n.2235G>A
n.862G>A
c.5876G>A (p.Gly1959Glu)
c.5855G>A (p.Gly1952Glu)
c.5756G>A (p.Gly1919Glu)
c.5792G>A (p.Gly1931Glu)
c.5789G>A (p.Gly1930Glu)
c.5783G>A (p.Gly1928Glu)
c.5816G>A (p.Gly1939Glu)
c.5750G>A (p.Gly1917Glu)
c.5360G>A (p.Gly1787Glu)
c.5504G>A (p.Gly1835Glu)
c.5399G>A (p.Gly1800Glu)
c.1805G>A (p.Gly602Glu)
c.5435G>A (p.Gly1812Glu)
c.5981G>A (p.Gly1994Glu)
n.333+3923C>T
c.5351G>A (p.Gly1784Glu)
c.4796G>A (p.Gly1599Glu)
c.2906G>A (p.Gly969Glu)
c.6050G>A (p.Gly2017Glu)
c.6554G>A (p.Gly2185Glu)
c.6449G>A (p.Gly2150Glu)
c.6236G>A (p.Gly2079Glu)
c.6179G>A (p.Gly2060Glu)
c.6095G>A (p.Gly2032Glu)
c.6080G>A (p.Gly2027Glu)
c.5984G>A (p.Gly1995Glu)
c.5975G>A (p.Gly1992Glu)
c.5957G>A (p.Gly1986Glu)
c.5951G>A (p.Gly1984Glu)
c.5924G>A (p.Gly1975Glu)
c.5918G>A (p.Gly1973Glu)
c.5900G>A (p.Gly1967Glu)
c.5894G>A (p.Gly1965Glu)
c.5891G>A (p.Gly1964Glu)
c.5867G>A (p.Gly1956Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.2686217G>CCA383382649CACNA1C,CACNA1C-AS1c.5807G>C (p.Gly1936Ala)
c.5837G>C (p.Gly1946Ala)
c.5912G>C (p.Gly1971Ala)
c.5945G>C (p.Gly1982Ala)
c.5774G>C (p.Gly1925Ala)
c.5822G>C (p.Gly1941Ala)
c.6071G>C (p.Gly2024Ala)
c.5699G>C (p.Gly1900Ala)
c.5732G>C (p.Gly1911Ala)
c.5723G>C (p.Gly1908Ala)
c.5897G>C (p.Gly1966Ala)
n.857G>C
n.2235G>C
n.862G>C
c.5876G>C (p.Gly1959Ala)
c.5855G>C (p.Gly1952Ala)
c.5756G>C (p.Gly1919Ala)
c.5792G>C (p.Gly1931Ala)
c.5789G>C (p.Gly1930Ala)
c.5783G>C (p.Gly1928Ala)
c.5816G>C (p.Gly1939Ala)
c.5750G>C (p.Gly1917Ala)
c.5360G>C (p.Gly1787Ala)
c.5504G>C (p.Gly1835Ala)
c.5399G>C (p.Gly1800Ala)
c.1805G>C (p.Gly602Ala)
c.5435G>C (p.Gly1812Ala)
c.5981G>C (p.Gly1994Ala)
n.333+3923C>G
c.5351G>C (p.Gly1784Ala)
c.4796G>C (p.Gly1599Ala)
c.2906G>C (p.Gly969Ala)
c.6050G>C (p.Gly2017Ala)
c.6554G>C (p.Gly2185Ala)
c.6449G>C (p.Gly2150Ala)
c.6236G>C (p.Gly2079Ala)
c.6179G>C (p.Gly2060Ala)
c.6095G>C (p.Gly2032Ala)
c.6080G>C (p.Gly2027Ala)
c.5984G>C (p.Gly1995Ala)
c.5975G>C (p.Gly1992Ala)
c.5957G>C (p.Gly1986Ala)
c.5951G>C (p.Gly1984Ala)
c.5924G>C (p.Gly1975Ala)
c.5918G>C (p.Gly1973Ala)
c.5900G>C (p.Gly1967Ala)
c.5894G>C (p.Gly1965Ala)
c.5891G>C (p.Gly1964Ala)
c.5867G>C (p.Gly1956Ala)
12g.2686217G=CA2012350974CACNA1C,CACNA1C-AS1c.5807G= (p.Gly1936=)
c.5837G= (p.Gly1946=)
c.5912G= (p.Gly1971=)
c.5945G= (p.Gly1982=)
c.5774G= (p.Gly1925=)
c.5822G= (p.Gly1941=)
c.6071G= (p.Gly2024=)
c.5699G= (p.Gly1900=)
c.5732G= (p.Gly1911=)
c.5723G= (p.Gly1908=)
c.5897G= (p.Gly1966=)
n.857G=
n.2235G=
n.862G=
c.5876G= (p.Gly1959=)
c.5855G= (p.Gly1952=)
c.5756G= (p.Gly1919=)
c.5792G= (p.Gly1931=)
c.5789G= (p.Gly1930=)
c.5783G= (p.Gly1928=)
c.5816G= (p.Gly1939=)
c.5750G= (p.Gly1917=)
c.5360G= (p.Gly1787=)
c.5504G= (p.Gly1835=)
c.5399G= (p.Gly1800=)
c.1805G= (p.Gly602=)
c.5435G= (p.Gly1812=)
c.5981G= (p.Gly1994=)
n.333+3923C=
c.5351G= (p.Gly1784=)
c.4796G= (p.Gly1599=)
c.2906G= (p.Gly969=)
c.6050G= (p.Gly2017=)
c.6554G= (p.Gly2185=)
c.6449G= (p.Gly2150=)
c.6236G= (p.Gly2079=)
c.6179G= (p.Gly2060=)
c.6095G= (p.Gly2032=)
c.6080G= (p.Gly2027=)
c.5984G= (p.Gly1995=)
c.5975G= (p.Gly1992=)
c.5957G= (p.Gly1986=)
c.5951G= (p.Gly1984=)
c.5924G= (p.Gly1975=)
c.5918G= (p.Gly1973=)
c.5900G= (p.Gly1967=)
c.5894G= (p.Gly1965=)
c.5891G= (p.Gly1964=)
c.5867G= (p.Gly1956=)
12g.2686217G>TCA383382648CACNA1C,CACNA1C-AS1c.5807G>T (p.Gly1936Val)
c.5837G>T (p.Gly1946Val)
c.5912G>T (p.Gly1971Val)
c.5945G>T (p.Gly1982Val)
c.5774G>T (p.Gly1925Val)
c.5822G>T (p.Gly1941Val)
c.6071G>T (p.Gly2024Val)
c.5699G>T (p.Gly1900Val)
c.5732G>T (p.Gly1911Val)
c.5723G>T (p.Gly1908Val)
c.5897G>T (p.Gly1966Val)
n.857G>T
n.2235G>T
n.862G>T
c.5876G>T (p.Gly1959Val)
c.5855G>T (p.Gly1952Val)
c.5756G>T (p.Gly1919Val)
c.5792G>T (p.Gly1931Val)
c.5789G>T (p.Gly1930Val)
c.5783G>T (p.Gly1928Val)
c.5816G>T (p.Gly1939Val)
c.5750G>T (p.Gly1917Val)
c.5360G>T (p.Gly1787Val)
c.5504G>T (p.Gly1835Val)
c.5399G>T (p.Gly1800Val)
c.1805G>T (p.Gly602Val)
c.5435G>T (p.Gly1812Val)
c.5981G>T (p.Gly1994Val)
n.333+3923C>A
c.5351G>T (p.Gly1784Val)
c.4796G>T (p.Gly1599Val)
c.2906G>T (p.Gly969Val)
c.6050G>T (p.Gly2017Val)
c.6554G>T (p.Gly2185Val)
c.6449G>T (p.Gly2150Val)
c.6236G>T (p.Gly2079Val)
c.6179G>T (p.Gly2060Val)
c.6095G>T (p.Gly2032Val)
c.6080G>T (p.Gly2027Val)
c.5984G>T (p.Gly1995Val)
c.5975G>T (p.Gly1992Val)
c.5957G>T (p.Gly1986Val)
c.5951G>T (p.Gly1984Val)
c.5924G>T (p.Gly1975Val)
c.5918G>T (p.Gly1973Val)
c.5900G>T (p.Gly1967Val)
c.5894G>T (p.Gly1965Val)
c.5891G>T (p.Gly1964Val)
c.5867G>T (p.Gly1956Val)
12g.2686218G>ACA6389959CACNA1C,CACNA1C-AS1c.5808G>A (p.Gly1936=)
c.5838G>A (p.Gly1946=)
c.5913G>A (p.Gly1971=)
c.5946G>A (p.Gly1982=)
c.5775G>A (p.Gly1925=)
c.5823G>A (p.Gly1941=)
c.6072G>A (p.Gly2024=)
c.5700G>A (p.Gly1900=)
c.5733G>A (p.Gly1911=)
c.5724G>A (p.Gly1908=)
c.5898G>A (p.Gly1966=)
n.858G>A
n.2236G>A
n.863G>A
c.5877G>A (p.Gly1959=)
c.5856G>A (p.Gly1952=)
c.5757G>A (p.Gly1919=)
c.5793G>A (p.Gly1931=)
c.5790G>A (p.Gly1930=)
c.5784G>A (p.Gly1928=)
c.5817G>A (p.Gly1939=)
c.5751G>A (p.Gly1917=)
c.5361G>A (p.Gly1787=)
c.5505G>A (p.Gly1835=)
c.5400G>A (p.Gly1800=)
c.1806G>A (p.Gly602=)
c.5436G>A (p.Gly1812=)
c.5982G>A (p.Gly1994=)
n.333+3922C>T
c.5352G>A (p.Gly1784=)
c.4797G>A (p.Gly1599=)
c.2907G>A (p.Gly969=)
c.6051G>A (p.Gly2017=)
c.6555G>A (p.Gly2185=)
c.6450G>A (p.Gly2150=)
c.6237G>A (p.Gly2079=)
c.6180G>A (p.Gly2060=)
c.6096G>A (p.Gly2032=)
c.6081G>A (p.Gly2027=)
c.5985G>A (p.Gly1995=)
c.5976G>A (p.Gly1992=)
c.5958G>A (p.Gly1986=)
c.5952G>A (p.Gly1984=)
c.5925G>A (p.Gly1975=)
c.5919G>A (p.Gly1973=)
c.5901G>A (p.Gly1967=)
c.5895G>A (p.Gly1965=)
c.5892G>A (p.Gly1964=)
c.5868G>A (p.Gly1956=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.2686218G>CCA477902619CACNA1C,CACNA1C-AS1c.5808G>C (p.Gly1936=)
c.5838G>C (p.Gly1946=)
c.5913G>C (p.Gly1971=)
c.5946G>C (p.Gly1982=)
c.5775G>C (p.Gly1925=)
c.5823G>C (p.Gly1941=)
c.6072G>C (p.Gly2024=)
c.5700G>C (p.Gly1900=)
c.5733G>C (p.Gly1911=)
c.5724G>C (p.Gly1908=)
c.5898G>C (p.Gly1966=)
n.858G>C
n.2236G>C
n.863G>C
c.5877G>C (p.Gly1959=)
c.5856G>C (p.Gly1952=)
c.5757G>C (p.Gly1919=)
c.5793G>C (p.Gly1931=)
c.5790G>C (p.Gly1930=)
c.5784G>C (p.Gly1928=)
c.5817G>C (p.Gly1939=)
c.5751G>C (p.Gly1917=)
c.5361G>C (p.Gly1787=)
c.5505G>C (p.Gly1835=)
c.5400G>C (p.Gly1800=)
c.1806G>C (p.Gly602=)
c.5436G>C (p.Gly1812=)
c.5982G>C (p.Gly1994=)
n.333+3922C>G
c.5352G>C (p.Gly1784=)
c.4797G>C (p.Gly1599=)
c.2907G>C (p.Gly969=)
c.6051G>C (p.Gly2017=)
c.6555G>C (p.Gly2185=)
c.6450G>C (p.Gly2150=)
c.6237G>C (p.Gly2079=)
c.6180G>C (p.Gly2060=)
c.6096G>C (p.Gly2032=)
c.6081G>C (p.Gly2027=)
c.5985G>C (p.Gly1995=)
c.5976G>C (p.Gly1992=)
c.5958G>C (p.Gly1986=)
c.5952G>C (p.Gly1984=)
c.5925G>C (p.Gly1975=)
c.5919G>C (p.Gly1973=)
c.5901G>C (p.Gly1967=)
c.5895G>C (p.Gly1965=)
c.5892G>C (p.Gly1964=)
c.5868G>C (p.Gly1956=)
12g.2686218G=CA2012350975CACNA1C,CACNA1C-AS1c.5808G= (p.Gly1936=)
c.5838G= (p.Gly1946=)
c.5913G= (p.Gly1971=)
c.5946G= (p.Gly1982=)
c.5775G= (p.Gly1925=)
c.5823G= (p.Gly1941=)
c.6072G= (p.Gly2024=)
c.5700G= (p.Gly1900=)
c.5733G= (p.Gly1911=)
c.5724G= (p.Gly1908=)
c.5898G= (p.Gly1966=)
n.858G=
n.2236G=
n.863G=
c.5877G= (p.Gly1959=)
c.5856G= (p.Gly1952=)
c.5757G= (p.Gly1919=)
c.5793G= (p.Gly1931=)
c.5790G= (p.Gly1930=)
c.5784G= (p.Gly1928=)
c.5817G= (p.Gly1939=)
c.5751G= (p.Gly1917=)
c.5361G= (p.Gly1787=)
c.5505G= (p.Gly1835=)
c.5400G= (p.Gly1800=)
c.1806G= (p.Gly602=)
c.5436G= (p.Gly1812=)
c.5982G= (p.Gly1994=)
n.333+3922C=
c.5352G= (p.Gly1784=)
c.4797G= (p.Gly1599=)
c.2907G= (p.Gly969=)
c.6051G= (p.Gly2017=)
c.6555G= (p.Gly2185=)
c.6450G= (p.Gly2150=)
c.6237G= (p.Gly2079=)
c.6180G= (p.Gly2060=)
c.6096G= (p.Gly2032=)
c.6081G= (p.Gly2027=)
c.5985G= (p.Gly1995=)
c.5976G= (p.Gly1992=)
c.5958G= (p.Gly1986=)
c.5952G= (p.Gly1984=)
c.5925G= (p.Gly1975=)
c.5919G= (p.Gly1973=)
c.5901G= (p.Gly1967=)
c.5895G= (p.Gly1965=)
c.5892G= (p.Gly1964=)
c.5868G= (p.Gly1956=)
12g.2686218G>TCA477902623CACNA1C,CACNA1C-AS1c.5808G>T (p.Gly1936=)
c.5838G>T (p.Gly1946=)
c.5913G>T (p.Gly1971=)
c.5946G>T (p.Gly1982=)
c.5775G>T (p.Gly1925=)
c.5823G>T (p.Gly1941=)
c.6072G>T (p.Gly2024=)
c.5700G>T (p.Gly1900=)
c.5733G>T (p.Gly1911=)
c.5724G>T (p.Gly1908=)
c.5898G>T (p.Gly1966=)
n.858G>T
n.2236G>T
n.863G>T
c.5877G>T (p.Gly1959=)
c.5856G>T (p.Gly1952=)
c.5757G>T (p.Gly1919=)
c.5793G>T (p.Gly1931=)
c.5790G>T (p.Gly1930=)
c.5784G>T (p.Gly1928=)
c.5817G>T (p.Gly1939=)
c.5751G>T (p.Gly1917=)
c.5361G>T (p.Gly1787=)
c.5505G>T (p.Gly1835=)
c.5400G>T (p.Gly1800=)
c.1806G>T (p.Gly602=)
c.5436G>T (p.Gly1812=)
c.5982G>T (p.Gly1994=)
n.333+3922C>A
c.5352G>T (p.Gly1784=)
c.4797G>T (p.Gly1599=)
c.2907G>T (p.Gly969=)
c.6051G>T (p.Gly2017=)
c.6555G>T (p.Gly2185=)
c.6450G>T (p.Gly2150=)
c.6237G>T (p.Gly2079=)
c.6180G>T (p.Gly2060=)
c.6096G>T (p.Gly2032=)
c.6081G>T (p.Gly2027=)
c.5985G>T (p.Gly1995=)
c.5976G>T (p.Gly1992=)
c.5958G>T (p.Gly1986=)
c.5952G>T (p.Gly1984=)
c.5925G>T (p.Gly1975=)
c.5919G>T (p.Gly1973=)
c.5901G>T (p.Gly1967=)
c.5895G>T (p.Gly1965=)
c.5892G>T (p.Gly1964=)
c.5868G>T (p.Gly1956=)
12g.2686219G>ACA383382652CACNA1C,CACNA1C-AS1c.5809G>A (p.Gly1937Arg)
c.5839G>A (p.Gly1947Arg)
c.5914G>A (p.Gly1972Arg)
c.5947G>A (p.Gly1983Arg)
c.5776G>A (p.Gly1926Arg)
c.5824G>A (p.Gly1942Arg)
c.6073G>A (p.Gly2025Arg)
c.5701G>A (p.Gly1901Arg)
c.5734G>A (p.Gly1912Arg)
c.5725G>A (p.Gly1909Arg)
c.5899G>A (p.Gly1967Arg)
n.859G>A
n.2237G>A
n.864G>A
c.5878G>A (p.Gly1960Arg)
c.5857G>A (p.Gly1953Arg)
c.5758G>A (p.Gly1920Arg)
c.5794G>A (p.Gly1932Arg)
c.5791G>A (p.Gly1931Arg)
c.5785G>A (p.Gly1929Arg)
c.5818G>A (p.Gly1940Arg)
c.5752G>A (p.Gly1918Arg)
c.5362G>A (p.Gly1788Arg)
c.5506G>A (p.Gly1836Arg)
c.5401G>A (p.Gly1801Arg)
c.1807G>A (p.Gly603Arg)
c.5437G>A (p.Gly1813Arg)
c.5983G>A (p.Gly1995Arg)
n.333+3921C>T
c.5353G>A (p.Gly1785Arg)
c.4798G>A (p.Gly1600Arg)
c.2908G>A (p.Gly970Arg)
c.6052G>A (p.Gly2018Arg)
c.6556G>A (p.Gly2186Arg)
c.6451G>A (p.Gly2151Arg)
c.6238G>A (p.Gly2080Arg)
c.6181G>A (p.Gly2061Arg)
c.6097G>A (p.Gly2033Arg)
c.6082G>A (p.Gly2028Arg)
c.5986G>A (p.Gly1996Arg)
c.5977G>A (p.Gly1993Arg)
c.5959G>A (p.Gly1987Arg)
c.5953G>A (p.Gly1985Arg)
c.5926G>A (p.Gly1976Arg)
c.5920G>A (p.Gly1974Arg)
c.5902G>A (p.Gly1968Arg)
c.5896G>A (p.Gly1966Arg)
c.5893G>A (p.Gly1965Arg)
c.5869G>A (p.Gly1957Arg)
 dbSNP gnomAD v2 gnomAD v4
12g.2686219G>CCA383382654CACNA1C,CACNA1C-AS1c.5809G>C (p.Gly1937Arg)
c.5839G>C (p.Gly1947Arg)
c.5914G>C (p.Gly1972Arg)
c.5947G>C (p.Gly1983Arg)
c.5776G>C (p.Gly1926Arg)
c.5824G>C (p.Gly1942Arg)
c.6073G>C (p.Gly2025Arg)
c.5701G>C (p.Gly1901Arg)
c.5734G>C (p.Gly1912Arg)
c.5725G>C (p.Gly1909Arg)
c.5899G>C (p.Gly1967Arg)
n.859G>C
n.2237G>C
n.864G>C
c.5878G>C (p.Gly1960Arg)
c.5857G>C (p.Gly1953Arg)
c.5758G>C (p.Gly1920Arg)
c.5794G>C (p.Gly1932Arg)
c.5791G>C (p.Gly1931Arg)
c.5785G>C (p.Gly1929Arg)
c.5818G>C (p.Gly1940Arg)
c.5752G>C (p.Gly1918Arg)
c.5362G>C (p.Gly1788Arg)
c.5506G>C (p.Gly1836Arg)
c.5401G>C (p.Gly1801Arg)
c.1807G>C (p.Gly603Arg)
c.5437G>C (p.Gly1813Arg)
c.5983G>C (p.Gly1995Arg)
n.333+3921C>G
c.5353G>C (p.Gly1785Arg)
c.4798G>C (p.Gly1600Arg)
c.2908G>C (p.Gly970Arg)
c.6052G>C (p.Gly2018Arg)
c.6556G>C (p.Gly2186Arg)
c.6451G>C (p.Gly2151Arg)
c.6238G>C (p.Gly2080Arg)
c.6181G>C (p.Gly2061Arg)
c.6097G>C (p.Gly2033Arg)
c.6082G>C (p.Gly2028Arg)
c.5986G>C (p.Gly1996Arg)
c.5977G>C (p.Gly1993Arg)
c.5959G>C (p.Gly1987Arg)
c.5953G>C (p.Gly1985Arg)
c.5926G>C (p.Gly1976Arg)
c.5920G>C (p.Gly1974Arg)
c.5902G>C (p.Gly1968Arg)
c.5896G>C (p.Gly1966Arg)
c.5893G>C (p.Gly1965Arg)
c.5869G>C (p.Gly1957Arg)
12g.2686219G=CA2012350976CACNA1C,CACNA1C-AS1c.5809G= (p.Gly1937=)
c.5839G= (p.Gly1947=)
c.5914G= (p.Gly1972=)
c.5947G= (p.Gly1983=)
c.5776G= (p.Gly1926=)
c.5824G= (p.Gly1942=)
c.6073G= (p.Gly2025=)
c.5701G= (p.Gly1901=)
c.5734G= (p.Gly1912=)
c.5725G= (p.Gly1909=)
c.5899G= (p.Gly1967=)
n.859G=
n.2237G=
n.864G=
c.5878G= (p.Gly1960=)
c.5857G= (p.Gly1953=)
c.5758G= (p.Gly1920=)
c.5794G= (p.Gly1932=)
c.5791G= (p.Gly1931=)
c.5785G= (p.Gly1929=)
c.5818G= (p.Gly1940=)
c.5752G= (p.Gly1918=)
c.5362G= (p.Gly1788=)
c.5506G= (p.Gly1836=)
c.5401G= (p.Gly1801=)
c.1807G= (p.Gly603=)
c.5437G= (p.Gly1813=)
c.5983G= (p.Gly1995=)
n.333+3921C=
c.5353G= (p.Gly1785=)
c.4798G= (p.Gly1600=)
c.2908G= (p.Gly970=)
c.6052G= (p.Gly2018=)
c.6556G= (p.Gly2186=)
c.6451G= (p.Gly2151=)
c.6238G= (p.Gly2080=)
c.6181G= (p.Gly2061=)
c.6097G= (p.Gly2033=)
c.6082G= (p.Gly2028=)
c.5986G= (p.Gly1996=)
c.5977G= (p.Gly1993=)
c.5959G= (p.Gly1987=)
c.5953G= (p.Gly1985=)
c.5926G= (p.Gly1976=)
c.5920G= (p.Gly1974=)
c.5902G= (p.Gly1968=)
c.5896G= (p.Gly1966=)
c.5893G= (p.Gly1965=)
c.5869G= (p.Gly1957=)
12g.2686219G>TCA383382656CACNA1C,CACNA1C-AS1c.5809G>T (p.Gly1937Ter)
c.5839G>T (p.Gly1947Ter)
c.5914G>T (p.Gly1972Ter)
c.5947G>T (p.Gly1983Ter)
c.5776G>T (p.Gly1926Ter)
c.5824G>T (p.Gly1942Ter)
c.6073G>T (p.Gly2025Ter)
c.5701G>T (p.Gly1901Ter)
c.5734G>T (p.Gly1912Ter)
c.5725G>T (p.Gly1909Ter)
c.5899G>T (p.Gly1967Ter)
n.859G>T
n.2237G>T
n.864G>T
c.5878G>T (p.Gly1960Ter)
c.5857G>T (p.Gly1953Ter)
c.5758G>T (p.Gly1920Ter)
c.5794G>T (p.Gly1932Ter)
c.5791G>T (p.Gly1931Ter)
c.5785G>T (p.Gly1929Ter)
c.5818G>T (p.Gly1940Ter)
c.5752G>T (p.Gly1918Ter)
c.5362G>T (p.Gly1788Ter)
c.5506G>T (p.Gly1836Ter)
c.5401G>T (p.Gly1801Ter)
c.1807G>T (p.Gly603Ter)
c.5437G>T (p.Gly1813Ter)
c.5983G>T (p.Gly1995Ter)
n.333+3921C>A
c.5353G>T (p.Gly1785Ter)
c.4798G>T (p.Gly1600Ter)
c.2908G>T (p.Gly970Ter)
c.6052G>T (p.Gly2018Ter)
c.6556G>T (p.Gly2186Ter)
c.6451G>T (p.Gly2151Ter)
c.6238G>T (p.Gly2080Ter)
c.6181G>T (p.Gly2061Ter)
c.6097G>T (p.Gly2033Ter)
c.6082G>T (p.Gly2028Ter)
c.5986G>T (p.Gly1996Ter)
c.5977G>T (p.Gly1993Ter)
c.5959G>T (p.Gly1987Ter)
c.5953G>T (p.Gly1985Ter)
c.5926G>T (p.Gly1976Ter)
c.5920G>T (p.Gly1974Ter)
c.5902G>T (p.Gly1968Ter)
c.5896G>T (p.Gly1966Ter)
c.5893G>T (p.Gly1965Ter)
c.5869G>T (p.Gly1957Ter)
 dbSNP
12g.2686220G>ACA383382658CACNA1C,CACNA1C-AS1c.5810G>A (p.Gly1937Glu)
c.5840G>A (p.Gly1947Glu)
c.5915G>A (p.Gly1972Glu)
c.5948G>A (p.Gly1983Glu)
c.5777G>A (p.Gly1926Glu)
c.5825G>A (p.Gly1942Glu)
c.6074G>A (p.Gly2025Glu)
c.5702G>A (p.Gly1901Glu)
c.5735G>A (p.Gly1912Glu)
c.5726G>A (p.Gly1909Glu)
c.5900G>A (p.Gly1967Glu)
n.860G>A
n.2238G>A
n.865G>A
c.5879G>A (p.Gly1960Glu)
c.5858G>A (p.Gly1953Glu)
c.5759G>A (p.Gly1920Glu)
c.5795G>A (p.Gly1932Glu)
c.5792G>A (p.Gly1931Glu)
c.5786G>A (p.Gly1929Glu)
c.5819G>A (p.Gly1940Glu)
c.5753G>A (p.Gly1918Glu)
c.5363G>A (p.Gly1788Glu)
c.5507G>A (p.Gly1836Glu)
c.5402G>A (p.Gly1801Glu)
c.1808G>A (p.Gly603Glu)
c.5438G>A (p.Gly1813Glu)
c.5984G>A (p.Gly1995Glu)
n.333+3920C>T
c.5354G>A (p.Gly1785Glu)
c.4799G>A (p.Gly1600Glu)
c.2909G>A (p.Gly970Glu)
c.6053G>A (p.Gly2018Glu)
c.6557G>A (p.Gly2186Glu)
c.6452G>A (p.Gly2151Glu)
c.6239G>A (p.Gly2080Glu)
c.6182G>A (p.Gly2061Glu)
c.6098G>A (p.Gly2033Glu)
c.6083G>A (p.Gly2028Glu)
c.5987G>A (p.Gly1996Glu)
c.5978G>A (p.Gly1993Glu)
c.5960G>A (p.Gly1987Glu)
c.5954G>A (p.Gly1985Glu)
c.5927G>A (p.Gly1976Glu)
c.5921G>A (p.Gly1974Glu)
c.5903G>A (p.Gly1968Glu)
c.5897G>A (p.Gly1966Glu)
c.5894G>A (p.Gly1965Glu)
c.5870G>A (p.Gly1957Glu)
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC
12g.2686220G>CCA383382660CACNA1C,CACNA1C-AS1c.5810G>C (p.Gly1937Ala)
c.5840G>C (p.Gly1947Ala)
c.5915G>C (p.Gly1972Ala)
c.5948G>C (p.Gly1983Ala)
c.5777G>C (p.Gly1926Ala)
c.5825G>C (p.Gly1942Ala)
c.6074G>C (p.Gly2025Ala)
c.5702G>C (p.Gly1901Ala)
c.5735G>C (p.Gly1912Ala)
c.5726G>C (p.Gly1909Ala)
c.5900G>C (p.Gly1967Ala)
n.860G>C
n.2238G>C
n.865G>C
c.5879G>C (p.Gly1960Ala)
c.5858G>C (p.Gly1953Ala)
c.5759G>C (p.Gly1920Ala)
c.5795G>C (p.Gly1932Ala)
c.5792G>C (p.Gly1931Ala)
c.5786G>C (p.Gly1929Ala)
c.5819G>C (p.Gly1940Ala)
c.5753G>C (p.Gly1918Ala)
c.5363G>C (p.Gly1788Ala)
c.5507G>C (p.Gly1836Ala)
c.5402G>C (p.Gly1801Ala)
c.1808G>C (p.Gly603Ala)
c.5438G>C (p.Gly1813Ala)
c.5984G>C (p.Gly1995Ala)
n.333+3920C>G
c.5354G>C (p.Gly1785Ala)
c.4799G>C (p.Gly1600Ala)
c.2909G>C (p.Gly970Ala)
c.6053G>C (p.Gly2018Ala)
c.6557G>C (p.Gly2186Ala)
c.6452G>C (p.Gly2151Ala)
c.6239G>C (p.Gly2080Ala)
c.6182G>C (p.Gly2061Ala)
c.6098G>C (p.Gly2033Ala)
c.6083G>C (p.Gly2028Ala)
c.5987G>C (p.Gly1996Ala)
c.5978G>C (p.Gly1993Ala)
c.5960G>C (p.Gly1987Ala)
c.5954G>C (p.Gly1985Ala)
c.5927G>C (p.Gly1976Ala)
c.5921G>C (p.Gly1974Ala)
c.5903G>C (p.Gly1968Ala)
c.5897G>C (p.Gly1966Ala)
c.5894G>C (p.Gly1965Ala)
c.5870G>C (p.Gly1957Ala)
12g.2686220G=CA2012350977CACNA1C,CACNA1C-AS1c.5810G= (p.Gly1937=)
c.5840G= (p.Gly1947=)
c.5915G= (p.Gly1972=)
c.5948G= (p.Gly1983=)
c.5777G= (p.Gly1926=)
c.5825G= (p.Gly1942=)
c.6074G= (p.Gly2025=)
c.5702G= (p.Gly1901=)
c.5735G= (p.Gly1912=)
c.5726G= (p.Gly1909=)
c.5900G= (p.Gly1967=)
n.860G=
n.2238G=
n.865G=
c.5879G= (p.Gly1960=)
c.5858G= (p.Gly1953=)
c.5759G= (p.Gly1920=)
c.5795G= (p.Gly1932=)
c.5792G= (p.Gly1931=)
c.5786G= (p.Gly1929=)
c.5819G= (p.Gly1940=)
c.5753G= (p.Gly1918=)
c.5363G= (p.Gly1788=)
c.5507G= (p.Gly1836=)
c.5402G= (p.Gly1801=)
c.1808G= (p.Gly603=)
c.5438G= (p.Gly1813=)
c.5984G= (p.Gly1995=)
n.333+3920C=
c.5354G= (p.Gly1785=)
c.4799G= (p.Gly1600=)
c.2909G= (p.Gly970=)
c.6053G= (p.Gly2018=)
c.6557G= (p.Gly2186=)
c.6452G= (p.Gly2151=)
c.6239G= (p.Gly2080=)
c.6182G= (p.Gly2061=)
c.6098G= (p.Gly2033=)
c.6083G= (p.Gly2028=)
c.5987G= (p.Gly1996=)
c.5978G= (p.Gly1993=)
c.5960G= (p.Gly1987=)
c.5954G= (p.Gly1985=)
c.5927G= (p.Gly1976=)
c.5921G= (p.Gly1974=)
c.5903G= (p.Gly1968=)
c.5897G= (p.Gly1966=)
c.5894G= (p.Gly1965=)
c.5870G= (p.Gly1957=)
12g.2686220G>TCA383382662CACNA1C,CACNA1C-AS1c.5810G>T (p.Gly1937Val)
c.5840G>T (p.Gly1947Val)
c.5915G>T (p.Gly1972Val)
c.5948G>T (p.Gly1983Val)
c.5777G>T (p.Gly1926Val)
c.5825G>T (p.Gly1942Val)
c.6074G>T (p.Gly2025Val)
c.5702G>T (p.Gly1901Val)
c.5735G>T (p.Gly1912Val)
c.5726G>T (p.Gly1909Val)
c.5900G>T (p.Gly1967Val)
n.860G>T
n.2238G>T
n.865G>T
c.5879G>T (p.Gly1960Val)
c.5858G>T (p.Gly1953Val)
c.5759G>T (p.Gly1920Val)
c.5795G>T (p.Gly1932Val)
c.5792G>T (p.Gly1931Val)
c.5786G>T (p.Gly1929Val)
c.5819G>T (p.Gly1940Val)
c.5753G>T (p.Gly1918Val)
c.5363G>T (p.Gly1788Val)
c.5507G>T (p.Gly1836Val)
c.5402G>T (p.Gly1801Val)
c.1808G>T (p.Gly603Val)
c.5438G>T (p.Gly1813Val)
c.5984G>T (p.Gly1995Val)
n.333+3920C>A
c.5354G>T (p.Gly1785Val)
c.4799G>T (p.Gly1600Val)
c.2909G>T (p.Gly970Val)
c.6053G>T (p.Gly2018Val)
c.6557G>T (p.Gly2186Val)
c.6452G>T (p.Gly2151Val)
c.6239G>T (p.Gly2080Val)
c.6182G>T (p.Gly2061Val)
c.6098G>T (p.Gly2033Val)
c.6083G>T (p.Gly2028Val)
c.5987G>T (p.Gly1996Val)
c.5978G>T (p.Gly1993Val)
c.5960G>T (p.Gly1987Val)
c.5954G>T (p.Gly1985Val)
c.5927G>T (p.Gly1976Val)
c.5921G>T (p.Gly1974Val)
c.5903G>T (p.Gly1968Val)
c.5897G>T (p.Gly1966Val)
c.5894G>T (p.Gly1965Val)
c.5870G>T (p.Gly1957Val)
12g.2686221A>CCA477902626CACNA1C,CACNA1C-AS1c.5811A>C (p.Gly1937=)
c.5841A>C (p.Gly1947=)
c.5916A>C (p.Gly1972=)
c.5949A>C (p.Gly1983=)
c.5778A>C (p.Gly1926=)
c.5826A>C (p.Gly1942=)
c.6075A>C (p.Gly2025=)
c.5703A>C (p.Gly1901=)
c.5736A>C (p.Gly1912=)
c.5727A>C (p.Gly1909=)
c.5901A>C (p.Gly1967=)
n.861A>C
n.2239A>C
n.866A>C
c.5880A>C (p.Gly1960=)
c.5859A>C (p.Gly1953=)
c.5760A>C (p.Gly1920=)
c.5796A>C (p.Gly1932=)
c.5793A>C (p.Gly1931=)
c.5787A>C (p.Gly1929=)
c.5820A>C (p.Gly1940=)
c.5754A>C (p.Gly1918=)
c.5364A>C (p.Gly1788=)
c.5508A>C (p.Gly1836=)
c.5403A>C (p.Gly1801=)
c.1809A>C (p.Gly603=)
c.5439A>C (p.Gly1813=)
c.5985A>C (p.Gly1995=)
n.333+3919T>G
c.5355A>C (p.Gly1785=)
c.4800A>C (p.Gly1600=)
c.2910A>C (p.Gly970=)
c.6054A>C (p.Gly2018=)
c.6558A>C (p.Gly2186=)
c.6453A>C (p.Gly2151=)
c.6240A>C (p.Gly2080=)
c.6183A>C (p.Gly2061=)
c.6099A>C (p.Gly2033=)
c.6084A>C (p.Gly2028=)
c.5988A>C (p.Gly1996=)
c.5979A>C (p.Gly1993=)
c.5961A>C (p.Gly1987=)
c.5955A>C (p.Gly1985=)
c.5928A>C (p.Gly1976=)
c.5922A>C (p.Gly1974=)
c.5904A>C (p.Gly1968=)
c.5898A>C (p.Gly1966=)
c.5895A>C (p.Gly1965=)
c.5871A>C (p.Gly1957=)
12g.2686221A>GCA477902628CACNA1C,CACNA1C-AS1c.5811A>G (p.Gly1937=)
c.5841A>G (p.Gly1947=)
c.5916A>G (p.Gly1972=)
c.5949A>G (p.Gly1983=)
c.5778A>G (p.Gly1926=)
c.5826A>G (p.Gly1942=)
c.6075A>G (p.Gly2025=)
c.5703A>G (p.Gly1901=)
c.5736A>G (p.Gly1912=)
c.5727A>G (p.Gly1909=)
c.5901A>G (p.Gly1967=)
n.861A>G
n.2239A>G
n.866A>G
c.5880A>G (p.Gly1960=)
c.5859A>G (p.Gly1953=)
c.5760A>G (p.Gly1920=)
c.5796A>G (p.Gly1932=)
c.5793A>G (p.Gly1931=)
c.5787A>G (p.Gly1929=)
c.5820A>G (p.Gly1940=)
c.5754A>G (p.Gly1918=)
c.5364A>G (p.Gly1788=)
c.5508A>G (p.Gly1836=)
c.5403A>G (p.Gly1801=)
c.1809A>G (p.Gly603=)
c.5439A>G (p.Gly1813=)
c.5985A>G (p.Gly1995=)
n.333+3919T>C
c.5355A>G (p.Gly1785=)
c.4800A>G (p.Gly1600=)
c.2910A>G (p.Gly970=)
c.6054A>G (p.Gly2018=)
c.6558A>G (p.Gly2186=)
c.6453A>G (p.Gly2151=)
c.6240A>G (p.Gly2080=)
c.6183A>G (p.Gly2061=)
c.6099A>G (p.Gly2033=)
c.6084A>G (p.Gly2028=)
c.5988A>G (p.Gly1996=)
c.5979A>G (p.Gly1993=)
c.5961A>G (p.Gly1987=)
c.5955A>G (p.Gly1985=)
c.5928A>G (p.Gly1976=)
c.5922A>G (p.Gly1974=)
c.5904A>G (p.Gly1968=)
c.5898A>G (p.Gly1966=)
c.5895A>G (p.Gly1965=)
c.5871A>G (p.Gly1957=)
 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC
12g.2686221A>TCA477902627CACNA1C,CACNA1C-AS1c.5811A>T (p.Gly1937=)
c.5841A>T (p.Gly1947=)
c.5916A>T (p.Gly1972=)
c.5949A>T (p.Gly1983=)
c.5778A>T (p.Gly1926=)
c.5826A>T (p.Gly1942=)
c.6075A>T (p.Gly2025=)
c.5703A>T (p.Gly1901=)
c.5736A>T (p.Gly1912=)
c.5727A>T (p.Gly1909=)
c.5901A>T (p.Gly1967=)
n.861A>T
n.2239A>T
n.866A>T
c.5880A>T (p.Gly1960=)
c.5859A>T (p.Gly1953=)
c.5760A>T (p.Gly1920=)
c.5796A>T (p.Gly1932=)
c.5793A>T (p.Gly1931=)
c.5787A>T (p.Gly1929=)
c.5820A>T (p.Gly1940=)
c.5754A>T (p.Gly1918=)
c.5364A>T (p.Gly1788=)
c.5508A>T (p.Gly1836=)
c.5403A>T (p.Gly1801=)
c.1809A>T (p.Gly603=)
c.5439A>T (p.Gly1813=)
c.5985A>T (p.Gly1995=)
n.333+3919T>A
c.5355A>T (p.Gly1785=)
c.4800A>T (p.Gly1600=)
c.2910A>T (p.Gly970=)
c.6054A>T (p.Gly2018=)
c.6558A>T (p.Gly2186=)
c.6453A>T (p.Gly2151=)
c.6240A>T (p.Gly2080=)
c.6183A>T (p.Gly2061=)
c.6099A>T (p.Gly2033=)
c.6084A>T (p.Gly2028=)
c.5988A>T (p.Gly1996=)
c.5979A>T (p.Gly1993=)
c.5961A>T (p.Gly1987=)
c.5955A>T (p.Gly1985=)
c.5928A>T (p.Gly1976=)
c.5922A>T (p.Gly1974=)
c.5904A>T (p.Gly1968=)
c.5898A>T (p.Gly1966=)
c.5895A>T (p.Gly1965=)
c.5871A>T (p.Gly1957=)
12g.2686222G>ACA6389960CACNA1C,CACNA1C-AS1c.5812G>A (p.Asp1938Asn)
c.5842G>A (p.Asp1948Asn)
c.5917G>A (p.Asp1973Asn)
c.5950G>A (p.Asp1984Asn)
c.5779G>A (p.Asp1927Asn)
c.5827G>A (p.Asp1943Asn)
c.6076G>A (p.Asp2026Asn)
c.5704G>A (p.Asp1902Asn)
c.5737G>A (p.Asp1913Asn)
c.5728G>A (p.Asp1910Asn)
c.5902G>A (p.Asp1968Asn)
n.862G>A
n.2240G>A
n.867G>A
c.5881G>A (p.Asp1961Asn)
c.5860G>A (p.Asp1954Asn)
c.5761G>A (p.Asp1921Asn)
c.5797G>A (p.Asp1933Asn)
c.5794G>A (p.Asp1932Asn)
c.5788G>A (p.Asp1930Asn)
c.5821G>A (p.Asp1941Asn)
c.5755G>A (p.Asp1919Asn)
c.5365G>A (p.Asp1789Asn)
c.5509G>A (p.Asp1837Asn)
c.5404G>A (p.Asp1802Asn)
c.1810G>A (p.Asp604Asn)
c.5440G>A (p.Asp1814Asn)
c.5986G>A (p.Asp1996Asn)
n.333+3918C>T
c.5356G>A (p.Asp1786Asn)
c.4801G>A (p.Asp1601Asn)
c.2911G>A (p.Asp971Asn)
c.6055G>A (p.Asp2019Asn)
c.6559G>A (p.Asp2187Asn)
c.6454G>A (p.Asp2152Asn)
c.6241G>A (p.Asp2081Asn)
c.6184G>A (p.Asp2062Asn)
c.6100G>A (p.Asp2034Asn)
c.6085G>A (p.Asp2029Asn)
c.5989G>A (p.Asp1997Asn)
c.5980G>A (p.Asp1994Asn)
c.5962G>A (p.Asp1988Asn)
c.5956G>A (p.Asp1986Asn)
c.5929G>A (p.Asp1977Asn)
c.5923G>A (p.Asp1975Asn)
c.5905G>A (p.Asp1969Asn)
c.5899G>A (p.Asp1967Asn)
c.5896G>A (p.Asp1966Asn)
c.5872G>A (p.Asp1958Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.2686222G>CCA383382665CACNA1C,CACNA1C-AS1c.5812G>C (p.Asp1938His)
c.5842G>C (p.Asp1948His)
c.5917G>C (p.Asp1973His)
c.5950G>C (p.Asp1984His)
c.5779G>C (p.Asp1927His)
c.5827G>C (p.Asp1943His)
c.6076G>C (p.Asp2026His)
c.5704G>C (p.Asp1902His)
c.5737G>C (p.Asp1913His)
c.5728G>C (p.Asp1910His)
c.5902G>C (p.Asp1968His)
n.862G>C
n.2240G>C
n.867G>C
c.5881G>C (p.Asp1961His)
c.5860G>C (p.Asp1954His)
c.5761G>C (p.Asp1921His)
c.5797G>C (p.Asp1933His)
c.5794G>C (p.Asp1932His)
c.5788G>C (p.Asp1930His)
c.5821G>C (p.Asp1941His)
c.5755G>C (p.Asp1919His)
c.5365G>C (p.Asp1789His)
c.5509G>C (p.Asp1837His)
c.5404G>C (p.Asp1802His)
c.1810G>C (p.Asp604His)
c.5440G>C (p.Asp1814His)
c.5986G>C (p.Asp1996His)
n.333+3918C>G
c.5356G>C (p.Asp1786His)
c.4801G>C (p.Asp1601His)
c.2911G>C (p.Asp971His)
c.6055G>C (p.Asp2019His)
c.6559G>C (p.Asp2187His)
c.6454G>C (p.Asp2152His)
c.6241G>C (p.Asp2081His)
c.6184G>C (p.Asp2062His)
c.6100G>C (p.Asp2034His)
c.6085G>C (p.Asp2029His)
c.5989G>C (p.Asp1997His)
c.5980G>C (p.Asp1994His)
c.5962G>C (p.Asp1988His)
c.5956G>C (p.Asp1986His)
c.5929G>C (p.Asp1977His)
c.5923G>C (p.Asp1975His)
c.5905G>C (p.Asp1969His)
c.5899G>C (p.Asp1967His)
c.5896G>C (p.Asp1966His)
c.5872G>C (p.Asp1958His)
 dbSNP gnomAD v3 gnomAD v4
12g.2686222G=CA2012350978CACNA1C,CACNA1C-AS1c.5812G= (p.Asp1938=)
c.5842G= (p.Asp1948=)
c.5917G= (p.Asp1973=)
c.5950G= (p.Asp1984=)
c.5779G= (p.Asp1927=)
c.5827G= (p.Asp1943=)
c.6076G= (p.Asp2026=)
c.5704G= (p.Asp1902=)
c.5737G= (p.Asp1913=)
c.5728G= (p.Asp1910=)
c.5902G= (p.Asp1968=)
n.862G=
n.2240G=
n.867G=
c.5881G= (p.Asp1961=)
c.5860G= (p.Asp1954=)
c.5761G= (p.Asp1921=)
c.5797G= (p.Asp1933=)
c.5794G= (p.Asp1932=)
c.5788G= (p.Asp1930=)
c.5821G= (p.Asp1941=)
c.5755G= (p.Asp1919=)
c.5365G= (p.Asp1789=)
c.5509G= (p.Asp1837=)
c.5404G= (p.Asp1802=)
c.1810G= (p.Asp604=)
c.5440G= (p.Asp1814=)
c.5986G= (p.Asp1996=)
n.333+3918C=
c.5356G= (p.Asp1786=)
c.4801G= (p.Asp1601=)
c.2911G= (p.Asp971=)
c.6055G= (p.Asp2019=)
c.6559G= (p.Asp2187=)
c.6454G= (p.Asp2152=)
c.6241G= (p.Asp2081=)
c.6184G= (p.Asp2062=)
c.6100G= (p.Asp2034=)
c.6085G= (p.Asp2029=)
c.5989G= (p.Asp1997=)
c.5980G= (p.Asp1994=)
c.5962G= (p.Asp1988=)
c.5956G= (p.Asp1986=)
c.5929G= (p.Asp1977=)
c.5923G= (p.Asp1975=)
c.5905G= (p.Asp1969=)
c.5899G= (p.Asp1967=)
c.5896G= (p.Asp1966=)
c.5872G= (p.Asp1958=)
12g.2686222G>TCA383382666CACNA1C,CACNA1C-AS1c.5812G>T (p.Asp1938Tyr)
c.5842G>T (p.Asp1948Tyr)
c.5917G>T (p.Asp1973Tyr)
c.5950G>T (p.Asp1984Tyr)
c.5779G>T (p.Asp1927Tyr)
c.5827G>T (p.Asp1943Tyr)
c.6076G>T (p.Asp2026Tyr)
c.5704G>T (p.Asp1902Tyr)
c.5737G>T (p.Asp1913Tyr)
c.5728G>T (p.Asp1910Tyr)
c.5902G>T (p.Asp1968Tyr)
n.862G>T
n.2240G>T
n.867G>T
c.5881G>T (p.Asp1961Tyr)
c.5860G>T (p.Asp1954Tyr)
c.5761G>T (p.Asp1921Tyr)
c.5797G>T (p.Asp1933Tyr)
c.5794G>T (p.Asp1932Tyr)
c.5788G>T (p.Asp1930Tyr)
c.5821G>T (p.Asp1941Tyr)
c.5755G>T (p.Asp1919Tyr)
c.5365G>T (p.Asp1789Tyr)
c.5509G>T (p.Asp1837Tyr)
c.5404G>T (p.Asp1802Tyr)
c.1810G>T (p.Asp604Tyr)
c.5440G>T (p.Asp1814Tyr)
c.5986G>T (p.Asp1996Tyr)
n.333+3918C>A
c.5356G>T (p.Asp1786Tyr)
c.4801G>T (p.Asp1601Tyr)
c.2911G>T (p.Asp971Tyr)
c.6055G>T (p.Asp2019Tyr)
c.6559G>T (p.Asp2187Tyr)
c.6454G>T (p.Asp2152Tyr)
c.6241G>T (p.Asp2081Tyr)
c.6184G>T (p.Asp2062Tyr)
c.6100G>T (p.Asp2034Tyr)
c.6085G>T (p.Asp2029Tyr)
c.5989G>T (p.Asp1997Tyr)
c.5980G>T (p.Asp1994Tyr)
c.5962G>T (p.Asp1988Tyr)
c.5956G>T (p.Asp1986Tyr)
c.5929G>T (p.Asp1977Tyr)
c.5923G>T (p.Asp1975Tyr)
c.5905G>T (p.Asp1969Tyr)
c.5899G>T (p.Asp1967Tyr)
c.5896G>T (p.Asp1966Tyr)
c.5872G>T (p.Asp1958Tyr)
12g.2686223A>CCA383382669CACNA1C,CACNA1C-AS1c.5813A>C (p.Asp1938Ala)
c.5843A>C (p.Asp1948Ala)
c.5918A>C (p.Asp1973Ala)
c.5951A>C (p.Asp1984Ala)
c.5780A>C (p.Asp1927Ala)
c.5828A>C (p.Asp1943Ala)
c.6077A>C (p.Asp2026Ala)
c.5705A>C (p.Asp1902Ala)
c.5738A>C (p.Asp1913Ala)
c.5729A>C (p.Asp1910Ala)
c.5903A>C (p.Asp1968Ala)
n.863A>C
n.2241A>C
n.868A>C
c.5882A>C (p.Asp1961Ala)
c.5861A>C (p.Asp1954Ala)
c.5762A>C (p.Asp1921Ala)
c.5798A>C (p.Asp1933Ala)
c.5795A>C (p.Asp1932Ala)
c.5789A>C (p.Asp1930Ala)
c.5822A>C (p.Asp1941Ala)
c.5756A>C (p.Asp1919Ala)
c.5366A>C (p.Asp1789Ala)
c.5510A>C (p.Asp1837Ala)
c.5405A>C (p.Asp1802Ala)
c.1811A>C (p.Asp604Ala)
c.5441A>C (p.Asp1814Ala)
c.5987A>C (p.Asp1996Ala)
n.333+3917T>G
c.5357A>C (p.Asp1786Ala)
c.4802A>C (p.Asp1601Ala)
c.2912A>C (p.Asp971Ala)
c.6056A>C (p.Asp2019Ala)
c.6560A>C (p.Asp2187Ala)
c.6455A>C (p.Asp2152Ala)
c.6242A>C (p.Asp2081Ala)
c.6185A>C (p.Asp2062Ala)
c.6101A>C (p.Asp2034Ala)
c.6086A>C (p.Asp2029Ala)
c.5990A>C (p.Asp1997Ala)
c.5981A>C (p.Asp1994Ala)
c.5963A>C (p.Asp1988Ala)
c.5957A>C (p.Asp1986Ala)
c.5930A>C (p.Asp1977Ala)
c.5924A>C (p.Asp1975Ala)
c.5906A>C (p.Asp1969Ala)
c.5900A>C (p.Asp1967Ala)
c.5897A>C (p.Asp1966Ala)
c.5873A>C (p.Asp1958Ala)
12g.2686223A>GCA383382670CACNA1C,CACNA1C-AS1c.5813A>G (p.Asp1938Gly)
c.5843A>G (p.Asp1948Gly)
c.5918A>G (p.Asp1973Gly)
c.5951A>G (p.Asp1984Gly)
c.5780A>G (p.Asp1927Gly)
c.5828A>G (p.Asp1943Gly)
c.6077A>G (p.Asp2026Gly)
c.5705A>G (p.Asp1902Gly)
c.5738A>G (p.Asp1913Gly)
c.5729A>G (p.Asp1910Gly)
c.5903A>G (p.Asp1968Gly)
n.863A>G
n.2241A>G
n.868A>G
c.5882A>G (p.Asp1961Gly)
c.5861A>G (p.Asp1954Gly)
c.5762A>G (p.Asp1921Gly)
c.5798A>G (p.Asp1933Gly)
c.5795A>G (p.Asp1932Gly)
c.5789A>G (p.Asp1930Gly)
c.5822A>G (p.Asp1941Gly)
c.5756A>G (p.Asp1919Gly)
c.5366A>G (p.Asp1789Gly)
c.5510A>G (p.Asp1837Gly)
c.5405A>G (p.Asp1802Gly)
c.1811A>G (p.Asp604Gly)
c.5441A>G (p.Asp1814Gly)
c.5987A>G (p.Asp1996Gly)
n.333+3917T>C
c.5357A>G (p.Asp1786Gly)
c.4802A>G (p.Asp1601Gly)
c.2912A>G (p.Asp971Gly)
c.6056A>G (p.Asp2019Gly)
c.6560A>G (p.Asp2187Gly)
c.6455A>G (p.Asp2152Gly)
c.6242A>G (p.Asp2081Gly)
c.6185A>G (p.Asp2062Gly)
c.6101A>G (p.Asp2034Gly)
c.6086A>G (p.Asp2029Gly)
c.5990A>G (p.Asp1997Gly)
c.5981A>G (p.Asp1994Gly)
c.5963A>G (p.Asp1988Gly)
c.5957A>G (p.Asp1986Gly)
c.5930A>G (p.Asp1977Gly)
c.5924A>G (p.Asp1975Gly)
c.5906A>G (p.Asp1969Gly)
c.5900A>G (p.Asp1967Gly)
c.5897A>G (p.Asp1966Gly)
c.5873A>G (p.Asp1958Gly)
12g.2686223A>TCA383382671CACNA1C,CACNA1C-AS1c.5813A>T (p.Asp1938Val)
c.5843A>T (p.Asp1948Val)
c.5918A>T (p.Asp1973Val)
c.5951A>T (p.Asp1984Val)
c.5780A>T (p.Asp1927Val)
c.5828A>T (p.Asp1943Val)
c.6077A>T (p.Asp2026Val)
c.5705A>T (p.Asp1902Val)
c.5738A>T (p.Asp1913Val)
c.5729A>T (p.Asp1910Val)
c.5903A>T (p.Asp1968Val)
n.863A>T
n.2241A>T
n.868A>T
c.5882A>T (p.Asp1961Val)
c.5861A>T (p.Asp1954Val)
c.5762A>T (p.Asp1921Val)
c.5798A>T (p.Asp1933Val)
c.5795A>T (p.Asp1932Val)
c.5789A>T (p.Asp1930Val)
c.5822A>T (p.Asp1941Val)
c.5756A>T (p.Asp1919Val)
c.5366A>T (p.Asp1789Val)
c.5510A>T (p.Asp1837Val)
c.5405A>T (p.Asp1802Val)
c.1811A>T (p.Asp604Val)
c.5441A>T (p.Asp1814Val)
c.5987A>T (p.Asp1996Val)
n.333+3917T>A
c.5357A>T (p.Asp1786Val)
c.4802A>T (p.Asp1601Val)
c.2912A>T (p.Asp971Val)
c.6056A>T (p.Asp2019Val)
c.6560A>T (p.Asp2187Val)
c.6455A>T (p.Asp2152Val)
c.6242A>T (p.Asp2081Val)
c.6185A>T (p.Asp2062Val)
c.6101A>T (p.Asp2034Val)
c.6086A>T (p.Asp2029Val)
c.5990A>T (p.Asp1997Val)
c.5981A>T (p.Asp1994Val)
c.5963A>T (p.Asp1988Val)
c.5957A>T (p.Asp1986Val)
c.5930A>T (p.Asp1977Val)
c.5924A>T (p.Asp1975Val)
c.5906A>T (p.Asp1969Val)
c.5900A>T (p.Asp1967Val)
c.5897A>T (p.Asp1966Val)
c.5873A>T (p.Asp1958Val)
12g.2686224C>ACA383382674CACNA1C,CACNA1C-AS1c.5814C>A (p.Asp1938Glu)
c.5844C>A (p.Asp1948Glu)
c.5919C>A (p.Asp1973Glu)
c.5952C>A (p.Asp1984Glu)
c.5781C>A (p.Asp1927Glu)
c.5829C>A (p.Asp1943Glu)
c.6078C>A (p.Asp2026Glu)
c.5706C>A (p.Asp1902Glu)
c.5739C>A (p.Asp1913Glu)
c.5730C>A (p.Asp1910Glu)
c.5904C>A (p.Asp1968Glu)
n.864C>A
n.2242C>A
n.869C>A
c.5883C>A (p.Asp1961Glu)
c.5862C>A (p.Asp1954Glu)
c.5763C>A (p.Asp1921Glu)
c.5799C>A (p.Asp1933Glu)
c.5796C>A (p.Asp1932Glu)
c.5790C>A (p.Asp1930Glu)
c.5823C>A (p.Asp1941Glu)
c.5757C>A (p.Asp1919Glu)
c.5367C>A (p.Asp1789Glu)
c.5511C>A (p.Asp1837Glu)
c.5406C>A (p.Asp1802Glu)
c.1812C>A (p.Asp604Glu)
c.5442C>A (p.Asp1814Glu)
c.5988C>A (p.Asp1996Glu)
n.333+3916G>T
c.5358C>A (p.Asp1786Glu)
c.4803C>A (p.Asp1601Glu)
c.2913C>A (p.Asp971Glu)
c.6057C>A (p.Asp2019Glu)
c.6561C>A (p.Asp2187Glu)
c.6456C>A (p.Asp2152Glu)
c.6243C>A (p.Asp2081Glu)
c.6186C>A (p.Asp2062Glu)
c.6102C>A (p.Asp2034Glu)
c.6087C>A (p.Asp2029Glu)
c.5991C>A (p.Asp1997Glu)
c.5982C>A (p.Asp1994Glu)
c.5964C>A (p.Asp1988Glu)
c.5958C>A (p.Asp1986Glu)
c.5931C>A (p.Asp1977Glu)
c.5925C>A (p.Asp1975Glu)
c.5907C>A (p.Asp1969Glu)
c.5901C>A (p.Asp1967Glu)
c.5898C>A (p.Asp1966Glu)
c.5874C>A (p.Asp1958Glu)
 ClinVar dbSNP gnomAD v4
12g.2686224C=CA2012350979CACNA1C,CACNA1C-AS1c.5814C= (p.Asp1938=)
c.5844C= (p.Asp1948=)
c.5919C= (p.Asp1973=)
c.5952C= (p.Asp1984=)
c.5781C= (p.Asp1927=)
c.5829C= (p.Asp1943=)
c.6078C= (p.Asp2026=)
c.5706C= (p.Asp1902=)
c.5739C= (p.Asp1913=)
c.5730C= (p.Asp1910=)
c.5904C= (p.Asp1968=)
n.864C=
n.2242C=
n.869C=
c.5883C= (p.Asp1961=)
c.5862C= (p.Asp1954=)
c.5763C= (p.Asp1921=)
c.5799C= (p.Asp1933=)
c.5796C= (p.Asp1932=)
c.5790C= (p.Asp1930=)
c.5823C= (p.Asp1941=)
c.5757C= (p.Asp1919=)
c.5367C= (p.Asp1789=)
c.5511C= (p.Asp1837=)
c.5406C= (p.Asp1802=)
c.1812C= (p.Asp604=)
c.5442C= (p.Asp1814=)
c.5988C= (p.Asp1996=)
n.333+3916G=
c.5358C= (p.Asp1786=)
c.4803C= (p.Asp1601=)
c.2913C= (p.Asp971=)
c.6057C= (p.Asp2019=)
c.6561C= (p.Asp2187=)
c.6456C= (p.Asp2152=)
c.6243C= (p.Asp2081=)
c.6186C= (p.Asp2062=)
c.6102C= (p.Asp2034=)
c.6087C= (p.Asp2029=)
c.5991C= (p.Asp1997=)
c.5982C= (p.Asp1994=)
c.5964C= (p.Asp1988=)
c.5958C= (p.Asp1986=)
c.5931C= (p.Asp1977=)
c.5925C= (p.Asp1975=)
c.5907C= (p.Asp1969=)
c.5901C= (p.Asp1967=)
c.5898C= (p.Asp1966=)
c.5874C= (p.Asp1958=)
12g.2686224C>GCA383382675CACNA1C,CACNA1C-AS1c.5814C>G (p.Asp1938Glu)
c.5844C>G (p.Asp1948Glu)
c.5919C>G (p.Asp1973Glu)
c.5952C>G (p.Asp1984Glu)
c.5781C>G (p.Asp1927Glu)
c.5829C>G (p.Asp1943Glu)
c.6078C>G (p.Asp2026Glu)
c.5706C>G (p.Asp1902Glu)
c.5739C>G (p.Asp1913Glu)
c.5730C>G (p.Asp1910Glu)
c.5904C>G (p.Asp1968Glu)
n.864C>G
n.2242C>G
n.869C>G
c.5883C>G (p.Asp1961Glu)
c.5862C>G (p.Asp1954Glu)
c.5763C>G (p.Asp1921Glu)
c.5799C>G (p.Asp1933Glu)
c.5796C>G (p.Asp1932Glu)
c.5790C>G (p.Asp1930Glu)
c.5823C>G (p.Asp1941Glu)
c.5757C>G (p.Asp1919Glu)
c.5367C>G (p.Asp1789Glu)
c.5511C>G (p.Asp1837Glu)
c.5406C>G (p.Asp1802Glu)
c.1812C>G (p.Asp604Glu)
c.5442C>G (p.Asp1814Glu)
c.5988C>G (p.Asp1996Glu)
n.333+3916G>C
c.5358C>G (p.Asp1786Glu)
c.4803C>G (p.Asp1601Glu)
c.2913C>G (p.Asp971Glu)
c.6057C>G (p.Asp2019Glu)
c.6561C>G (p.Asp2187Glu)
c.6456C>G (p.Asp2152Glu)
c.6243C>G (p.Asp2081Glu)
c.6186C>G (p.Asp2062Glu)
c.6102C>G (p.Asp2034Glu)
c.6087C>G (p.Asp2029Glu)
c.5991C>G (p.Asp1997Glu)
c.5982C>G (p.Asp1994Glu)
c.5964C>G (p.Asp1988Glu)
c.5958C>G (p.Asp1986Glu)
c.5931C>G (p.Asp1977Glu)
c.5925C>G (p.Asp1975Glu)
c.5907C>G (p.Asp1969Glu)
c.5901C>G (p.Asp1967Glu)
c.5898C>G (p.Asp1966Glu)
c.5874C>G (p.Asp1958Glu)
12g.2686224C>TCA477902652CACNA1C,CACNA1C-AS1c.5814C>T (p.Asp1938=)
c.5844C>T (p.Asp1948=)
c.5919C>T (p.Asp1973=)
c.5952C>T (p.Asp1984=)
c.5781C>T (p.Asp1927=)
c.5829C>T (p.Asp1943=)
c.6078C>T (p.Asp2026=)
c.5706C>T (p.Asp1902=)
c.5739C>T (p.Asp1913=)
c.5730C>T (p.Asp1910=)
c.5904C>T (p.Asp1968=)
n.864C>T
n.2242C>T
n.869C>T
c.5883C>T (p.Asp1961=)
c.5862C>T (p.Asp1954=)
c.5763C>T (p.Asp1921=)
c.5799C>T (p.Asp1933=)
c.5796C>T (p.Asp1932=)
c.5790C>T (p.Asp1930=)
c.5823C>T (p.Asp1941=)
c.5757C>T (p.Asp1919=)
c.5367C>T (p.Asp1789=)
c.5511C>T (p.Asp1837=)
c.5406C>T (p.Asp1802=)
c.1812C>T (p.Asp604=)
c.5442C>T (p.Asp1814=)
c.5988C>T (p.Asp1996=)
n.333+3916G>A
c.5358C>T (p.Asp1786=)
c.4803C>T (p.Asp1601=)
c.2913C>T (p.Asp971=)
c.6057C>T (p.Asp2019=)
c.6561C>T (p.Asp2187=)
c.6456C>T (p.Asp2152=)
c.6243C>T (p.Asp2081=)
c.6186C>T (p.Asp2062=)
c.6102C>T (p.Asp2034=)
c.6087C>T (p.Asp2029=)
c.5991C>T (p.Asp1997=)
c.5982C>T (p.Asp1994=)
c.5964C>T (p.Asp1988=)
c.5958C>T (p.Asp1986=)
c.5931C>T (p.Asp1977=)
c.5925C>T (p.Asp1975=)
c.5907C>T (p.Asp1969=)
c.5901C>T (p.Asp1967=)
c.5898C>T (p.Asp1966=)
c.5874C>T (p.Asp1958=)
 ClinVar dbSNP gnomAD v4
12g.2686225A=CA2012350980CACNA1C,CACNA1C-AS1c.5815A= (p.Ile1939=)
c.5845A= (p.Ile1949=)
c.5920A= (p.Ile1974=)
c.5953A= (p.Ile1985=)
c.5782A= (p.Ile1928=)
c.5830A= (p.Ile1944=)
c.6079A= (p.Ile2027=)
c.5707A= (p.Ile1903=)
c.5740A= (p.Ile1914=)
c.5731A= (p.Ile1911=)
c.5905A= (p.Ile1969=)
n.865A=
n.2243A=
n.870A=
c.5884A= (p.Ile1962=)
c.5863A= (p.Ile1955=)
c.5764A= (p.Ile1922=)
c.5800A= (p.Ile1934=)
c.5797A= (p.Ile1933=)
c.5791A= (p.Ile1931=)
c.5824A= (p.Ile1942=)
c.5758A= (p.Ile1920=)
c.5368A= (p.Ile1790=)
c.5512A= (p.Ile1838=)
c.5407A= (p.Ile1803=)
c.1813A= (p.Ile605=)
c.5443A= (p.Ile1815=)
c.5989A= (p.Ile1997=)
n.333+3915T=
c.5359A= (p.Ile1787=)
c.4804A= (p.Ile1602=)
c.2914A= (p.Ile972=)
c.6058A= (p.Ile2020=)
c.6562A= (p.Ile2188=)
c.6457A= (p.Ile2153=)
c.6244A= (p.Ile2082=)
c.6187A= (p.Ile2063=)
c.6103A= (p.Ile2035=)
c.6088A= (p.Ile2030=)
c.5992A= (p.Ile1998=)
c.5983A= (p.Ile1995=)
c.5965A= (p.Ile1989=)
c.5959A= (p.Ile1987=)
c.5932A= (p.Ile1978=)
c.5926A= (p.Ile1976=)
c.5908A= (p.Ile1970=)
c.5902A= (p.Ile1968=)
c.5899A= (p.Ile1967=)
c.5875A= (p.Ile1959=)
12g.2686225A>CCA383382678CACNA1C,CACNA1C-AS1c.5815A>C (p.Ile1939Leu)
c.5845A>C (p.Ile1949Leu)
c.5920A>C (p.Ile1974Leu)
c.5953A>C (p.Ile1985Leu)
c.5782A>C (p.Ile1928Leu)
c.5830A>C (p.Ile1944Leu)
c.6079A>C (p.Ile2027Leu)
c.5707A>C (p.Ile1903Leu)
c.5740A>C (p.Ile1914Leu)
c.5731A>C (p.Ile1911Leu)
c.5905A>C (p.Ile1969Leu)
n.865A>C
n.2243A>C
n.870A>C
c.5884A>C (p.Ile1962Leu)
c.5863A>C (p.Ile1955Leu)
c.5764A>C (p.Ile1922Leu)
c.5800A>C (p.Ile1934Leu)
c.5797A>C (p.Ile1933Leu)
c.5791A>C (p.Ile1931Leu)
c.5824A>C (p.Ile1942Leu)
c.5758A>C (p.Ile1920Leu)
c.5368A>C (p.Ile1790Leu)
c.5512A>C (p.Ile1838Leu)
c.5407A>C (p.Ile1803Leu)
c.1813A>C (p.Ile605Leu)
c.5443A>C (p.Ile1815Leu)
c.5989A>C (p.Ile1997Leu)
n.333+3915T>G
c.5359A>C (p.Ile1787Leu)
c.4804A>C (p.Ile1602Leu)
c.2914A>C (p.Ile972Leu)
c.6058A>C (p.Ile2020Leu)
c.6562A>C (p.Ile2188Leu)
c.6457A>C (p.Ile2153Leu)
c.6244A>C (p.Ile2082Leu)
c.6187A>C (p.Ile2063Leu)
c.6103A>C (p.Ile2035Leu)
c.6088A>C (p.Ile2030Leu)
c.5992A>C (p.Ile1998Leu)
c.5983A>C (p.Ile1995Leu)
c.5965A>C (p.Ile1989Leu)
c.5959A>C (p.Ile1987Leu)
c.5932A>C (p.Ile1978Leu)
c.5926A>C (p.Ile1976Leu)
c.5908A>C (p.Ile1970Leu)
c.5902A>C (p.Ile1968Leu)
c.5899A>C (p.Ile1967Leu)
c.5875A>C (p.Ile1959Leu)
12g.2686225A>GCA383382679CACNA1C,CACNA1C-AS1c.5815A>G (p.Ile1939Val)
c.5845A>G (p.Ile1949Val)
c.5920A>G (p.Ile1974Val)
c.5953A>G (p.Ile1985Val)
c.5782A>G (p.Ile1928Val)
c.5830A>G (p.Ile1944Val)
c.6079A>G (p.Ile2027Val)
c.5707A>G (p.Ile1903Val)
c.5740A>G (p.Ile1914Val)
c.5731A>G (p.Ile1911Val)
c.5905A>G (p.Ile1969Val)
n.865A>G
n.2243A>G
n.870A>G
c.5884A>G (p.Ile1962Val)
c.5863A>G (p.Ile1955Val)
c.5764A>G (p.Ile1922Val)
c.5800A>G (p.Ile1934Val)
c.5797A>G (p.Ile1933Val)
c.5791A>G (p.Ile1931Val)
c.5824A>G (p.Ile1942Val)
c.5758A>G (p.Ile1920Val)
c.5368A>G (p.Ile1790Val)
c.5512A>G (p.Ile1838Val)
c.5407A>G (p.Ile1803Val)
c.1813A>G (p.Ile605Val)
c.5443A>G (p.Ile1815Val)
c.5989A>G (p.Ile1997Val)
n.333+3915T>C
c.5359A>G (p.Ile1787Val)
c.4804A>G (p.Ile1602Val)
c.2914A>G (p.Ile972Val)
c.6058A>G (p.Ile2020Val)
c.6562A>G (p.Ile2188Val)
c.6457A>G (p.Ile2153Val)
c.6244A>G (p.Ile2082Val)
c.6187A>G (p.Ile2063Val)
c.6103A>G (p.Ile2035Val)
c.6088A>G (p.Ile2030Val)
c.5992A>G (p.Ile1998Val)
c.5983A>G (p.Ile1995Val)
c.5965A>G (p.Ile1989Val)
c.5959A>G (p.Ile1987Val)
c.5932A>G (p.Ile1978Val)
c.5926A>G (p.Ile1976Val)
c.5908A>G (p.Ile1970Val)
c.5902A>G (p.Ile1968Val)
c.5899A>G (p.Ile1967Val)
c.5875A>G (p.Ile1959Val)
12g.2686225A>TCA6389961CACNA1C,CACNA1C-AS1c.5815A>T (p.Ile1939Phe)
c.5845A>T (p.Ile1949Phe)
c.5920A>T (p.Ile1974Phe)
c.5953A>T (p.Ile1985Phe)
c.5782A>T (p.Ile1928Phe)
c.5830A>T (p.Ile1944Phe)
c.6079A>T (p.Ile2027Phe)
c.5707A>T (p.Ile1903Phe)
c.5740A>T (p.Ile1914Phe)
c.5731A>T (p.Ile1911Phe)
c.5905A>T (p.Ile1969Phe)
n.865A>T
n.2243A>T
n.870A>T
c.5884A>T (p.Ile1962Phe)
c.5863A>T (p.Ile1955Phe)
c.5764A>T (p.Ile1922Phe)
c.5800A>T (p.Ile1934Phe)
c.5797A>T (p.Ile1933Phe)
c.5791A>T (p.Ile1931Phe)
c.5824A>T (p.Ile1942Phe)
c.5758A>T (p.Ile1920Phe)
c.5368A>T (p.Ile1790Phe)
c.5512A>T (p.Ile1838Phe)
c.5407A>T (p.Ile1803Phe)
c.1813A>T (p.Ile605Phe)
c.5443A>T (p.Ile1815Phe)
c.5989A>T (p.Ile1997Phe)
n.333+3915T>A
c.5359A>T (p.Ile1787Phe)
c.4804A>T (p.Ile1602Phe)
c.2914A>T (p.Ile972Phe)
c.6058A>T (p.Ile2020Phe)
c.6562A>T (p.Ile2188Phe)
c.6457A>T (p.Ile2153Phe)
c.6244A>T (p.Ile2082Phe)
c.6187A>T (p.Ile2063Phe)
c.6103A>T (p.Ile2035Phe)
c.6088A>T (p.Ile2030Phe)
c.5992A>T (p.Ile1998Phe)
c.5983A>T (p.Ile1995Phe)
c.5965A>T (p.Ile1989Phe)
c.5959A>T (p.Ile1987Phe)
c.5932A>T (p.Ile1978Phe)
c.5926A>T (p.Ile1976Phe)
c.5908A>T (p.Ile1970Phe)
c.5902A>T (p.Ile1968Phe)
c.5899A>T (p.Ile1967Phe)
c.5875A>T (p.Ile1959Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.2686226T>ACA383382681CACNA1C,CACNA1C-AS1c.5816T>A (p.Ile1939Asn)
c.5846T>A (p.Ile1949Asn)
c.5921T>A (p.Ile1974Asn)
c.5954T>A (p.Ile1985Asn)
c.5783T>A (p.Ile1928Asn)
c.5831T>A (p.Ile1944Asn)
c.6080T>A (p.Ile2027Asn)
c.5708T>A (p.Ile1903Asn)
c.5741T>A (p.Ile1914Asn)
c.5732T>A (p.Ile1911Asn)
c.5906T>A (p.Ile1969Asn)
n.866T>A
n.2244T>A
n.871T>A
c.5885T>A (p.Ile1962Asn)
c.5864T>A (p.Ile1955Asn)
c.5765T>A (p.Ile1922Asn)
c.5801T>A (p.Ile1934Asn)
c.5798T>A (p.Ile1933Asn)
c.5792T>A (p.Ile1931Asn)
c.5825T>A (p.Ile1942Asn)
c.5759T>A (p.Ile1920Asn)
c.5369T>A (p.Ile1790Asn)
c.5513T>A (p.Ile1838Asn)
c.5408T>A (p.Ile1803Asn)
c.1814T>A (p.Ile605Asn)
c.5444T>A (p.Ile1815Asn)
c.5990T>A (p.Ile1997Asn)
n.333+3914A>T
c.5360T>A (p.Ile1787Asn)
c.4805T>A (p.Ile1602Asn)
c.2915T>A (p.Ile972Asn)
c.6059T>A (p.Ile2020Asn)
c.6563T>A (p.Ile2188Asn)
c.6458T>A (p.Ile2153Asn)
c.6245T>A (p.Ile2082Asn)
c.6188T>A (p.Ile2063Asn)
c.6104T>A (p.Ile2035Asn)
c.6089T>A (p.Ile2030Asn)
c.5993T>A (p.Ile1998Asn)
c.5984T>A (p.Ile1995Asn)
c.5966T>A (p.Ile1989Asn)
c.5960T>A (p.Ile1987Asn)
c.5933T>A (p.Ile1978Asn)
c.5927T>A (p.Ile1976Asn)
c.5909T>A (p.Ile1970Asn)
c.5903T>A (p.Ile1968Asn)
c.5900T>A (p.Ile1967Asn)
c.5876T>A (p.Ile1959Asn)
 ClinVar dbSNP gnomAD v3 gnomAD v4
12g.2686226T>CCA383382682CACNA1C,CACNA1C-AS1c.5816T>C (p.Ile1939Thr)
c.5846T>C (p.Ile1949Thr)
c.5921T>C (p.Ile1974Thr)
c.5954T>C (p.Ile1985Thr)
c.5783T>C (p.Ile1928Thr)
c.5831T>C (p.Ile1944Thr)
c.6080T>C (p.Ile2027Thr)
c.5708T>C (p.Ile1903Thr)
c.5741T>C (p.Ile1914Thr)
c.5732T>C (p.Ile1911Thr)
c.5906T>C (p.Ile1969Thr)
n.866T>C
n.2244T>C
n.871T>C
c.5885T>C (p.Ile1962Thr)
c.5864T>C (p.Ile1955Thr)
c.5765T>C (p.Ile1922Thr)
c.5801T>C (p.Ile1934Thr)
c.5798T>C (p.Ile1933Thr)
c.5792T>C (p.Ile1931Thr)
c.5825T>C (p.Ile1942Thr)
c.5759T>C (p.Ile1920Thr)
c.5369T>C (p.Ile1790Thr)
c.5513T>C (p.Ile1838Thr)
c.5408T>C (p.Ile1803Thr)
c.1814T>C (p.Ile605Thr)
c.5444T>C (p.Ile1815Thr)
c.5990T>C (p.Ile1997Thr)
n.333+3914A>G
c.5360T>C (p.Ile1787Thr)
c.4805T>C (p.Ile1602Thr)
c.2915T>C (p.Ile972Thr)
c.6059T>C (p.Ile2020Thr)
c.6563T>C (p.Ile2188Thr)
c.6458T>C (p.Ile2153Thr)
c.6245T>C (p.Ile2082Thr)
c.6188T>C (p.Ile2063Thr)
c.6104T>C (p.Ile2035Thr)
c.6089T>C (p.Ile2030Thr)
c.5993T>C (p.Ile1998Thr)
c.5984T>C (p.Ile1995Thr)
c.5966T>C (p.Ile1989Thr)
c.5960T>C (p.Ile1987Thr)
c.5933T>C (p.Ile1978Thr)
c.5927T>C (p.Ile1976Thr)
c.5909T>C (p.Ile1970Thr)
c.5903T>C (p.Ile1968Thr)
c.5900T>C (p.Ile1967Thr)
c.5876T>C (p.Ile1959Thr)
12g.2686226T>GCA383382683CACNA1C,CACNA1C-AS1c.5816T>G (p.Ile1939Ser)
c.5846T>G (p.Ile1949Ser)
c.5921T>G (p.Ile1974Ser)
c.5954T>G (p.Ile1985Ser)
c.5783T>G (p.Ile1928Ser)
c.5831T>G (p.Ile1944Ser)
c.6080T>G (p.Ile2027Ser)
c.5708T>G (p.Ile1903Ser)
c.5741T>G (p.Ile1914Ser)
c.5732T>G (p.Ile1911Ser)
c.5906T>G (p.Ile1969Ser)
n.866T>G
n.2244T>G
n.871T>G
c.5885T>G (p.Ile1962Ser)
c.5864T>G (p.Ile1955Ser)
c.5765T>G (p.Ile1922Ser)
c.5801T>G (p.Ile1934Ser)
c.5798T>G (p.Ile1933Ser)
c.5792T>G (p.Ile1931Ser)
c.5825T>G (p.Ile1942Ser)
c.5759T>G (p.Ile1920Ser)
c.5369T>G (p.Ile1790Ser)
c.5513T>G (p.Ile1838Ser)
c.5408T>G (p.Ile1803Ser)
c.1814T>G (p.Ile605Ser)
c.5444T>G (p.Ile1815Ser)
c.5990T>G (p.Ile1997Ser)
n.333+3914A>C
c.5360T>G (p.Ile1787Ser)
c.4805T>G (p.Ile1602Ser)
c.2915T>G (p.Ile972Ser)
c.6059T>G (p.Ile2020Ser)
c.6563T>G (p.Ile2188Ser)
c.6458T>G (p.Ile2153Ser)
c.6245T>G (p.Ile2082Ser)
c.6188T>G (p.Ile2063Ser)
c.6104T>G (p.Ile2035Ser)
c.6089T>G (p.Ile2030Ser)
c.5993T>G (p.Ile1998Ser)
c.5984T>G (p.Ile1995Ser)
c.5966T>G (p.Ile1989Ser)
c.5960T>G (p.Ile1987Ser)
c.5933T>G (p.Ile1978Ser)
c.5927T>G (p.Ile1976Ser)
c.5909T>G (p.Ile1970Ser)
c.5903T>G (p.Ile1968Ser)
c.5900T>G (p.Ile1967Ser)
c.5876T>G (p.Ile1959Ser)
 ClinVar dbSNP
12g.2686226T=CA2012350981CACNA1C,CACNA1C-AS1c.5816T= (p.Ile1939=)
c.5846T= (p.Ile1949=)
c.5921T= (p.Ile1974=)
c.5954T= (p.Ile1985=)
c.5783T= (p.Ile1928=)
c.5831T= (p.Ile1944=)
c.6080T= (p.Ile2027=)
c.5708T= (p.Ile1903=)
c.5741T= (p.Ile1914=)
c.5732T= (p.Ile1911=)
c.5906T= (p.Ile1969=)
n.866T=
n.2244T=
n.871T=
c.5885T= (p.Ile1962=)
c.5864T= (p.Ile1955=)
c.5765T= (p.Ile1922=)
c.5801T= (p.Ile1934=)
c.5798T= (p.Ile1933=)
c.5792T= (p.Ile1931=)
c.5825T= (p.Ile1942=)
c.5759T= (p.Ile1920=)
c.5369T= (p.Ile1790=)
c.5513T= (p.Ile1838=)
c.5408T= (p.Ile1803=)
c.1814T= (p.Ile605=)
c.5444T= (p.Ile1815=)
c.5990T= (p.Ile1997=)
n.333+3914A=
c.5360T= (p.Ile1787=)
c.4805T= (p.Ile1602=)
c.2915T= (p.Ile972=)
c.6059T= (p.Ile2020=)
c.6563T= (p.Ile2188=)
c.6458T= (p.Ile2153=)
c.6245T= (p.Ile2082=)
c.6188T= (p.Ile2063=)
c.6104T= (p.Ile2035=)
c.6089T= (p.Ile2030=)
c.5993T= (p.Ile1998=)
c.5984T= (p.Ile1995=)
c.5966T= (p.Ile1989=)
c.5960T= (p.Ile1987=)
c.5933T= (p.Ile1978=)
c.5927T= (p.Ile1976=)
c.5909T= (p.Ile1970=)
c.5903T= (p.Ile1968=)
c.5900T= (p.Ile1967=)
c.5876T= (p.Ile1959=)
12g.2686227C>ACA477902669CACNA1C,CACNA1C-AS1c.5817C>A (p.Ile1939=)
c.5847C>A (p.Ile1949=)
c.5922C>A (p.Ile1974=)
c.5955C>A (p.Ile1985=)
c.5784C>A (p.Ile1928=)
c.5832C>A (p.Ile1944=)
c.6081C>A (p.Ile2027=)
c.5709C>A (p.Ile1903=)
c.5742C>A (p.Ile1914=)
c.5733C>A (p.Ile1911=)
c.5907C>A (p.Ile1969=)
n.867C>A
n.2245C>A
n.872C>A
c.5886C>A (p.Ile1962=)
c.5865C>A (p.Ile1955=)
c.5766C>A (p.Ile1922=)
c.5802C>A (p.Ile1934=)
c.5799C>A (p.Ile1933=)
c.5793C>A (p.Ile1931=)
c.5826C>A (p.Ile1942=)
c.5760C>A (p.Ile1920=)
c.5370C>A (p.Ile1790=)
c.5514C>A (p.Ile1838=)
c.5409C>A (p.Ile1803=)
c.1815C>A (p.Ile605=)
c.5445C>A (p.Ile1815=)
c.5991C>A (p.Ile1997=)
n.333+3913G>T
c.5361C>A (p.Ile1787=)
c.4806C>A (p.Ile1602=)
c.2916C>A (p.Ile972=)
c.6060C>A (p.Ile2020=)
c.6564C>A (p.Ile2188=)
c.6459C>A (p.Ile2153=)
c.6246C>A (p.Ile2082=)
c.6189C>A (p.Ile2063=)
c.6105C>A (p.Ile2035=)
c.6090C>A (p.Ile2030=)
c.5994C>A (p.Ile1998=)
c.5985C>A (p.Ile1995=)
c.5967C>A (p.Ile1989=)
c.5961C>A (p.Ile1987=)
c.5934C>A (p.Ile1978=)
c.5928C>A (p.Ile1976=)
c.5910C>A (p.Ile1970=)
c.5904C>A (p.Ile1968=)
c.5901C>A (p.Ile1967=)
c.5877C>A (p.Ile1959=)
12g.2686227C>GCA383382685CACNA1C,CACNA1C-AS1c.5817C>G (p.Ile1939Met)
c.5847C>G (p.Ile1949Met)
c.5922C>G (p.Ile1974Met)
c.5955C>G (p.Ile1985Met)
c.5784C>G (p.Ile1928Met)
c.5832C>G (p.Ile1944Met)
c.6081C>G (p.Ile2027Met)
c.5709C>G (p.Ile1903Met)
c.5742C>G (p.Ile1914Met)
c.5733C>G (p.Ile1911Met)
c.5907C>G (p.Ile1969Met)
n.867C>G
n.2245C>G
n.872C>G
c.5886C>G (p.Ile1962Met)
c.5865C>G (p.Ile1955Met)
c.5766C>G (p.Ile1922Met)
c.5802C>G (p.Ile1934Met)
c.5799C>G (p.Ile1933Met)
c.5793C>G (p.Ile1931Met)
c.5826C>G (p.Ile1942Met)
c.5760C>G (p.Ile1920Met)
c.5370C>G (p.Ile1790Met)
c.5514C>G (p.Ile1838Met)
c.5409C>G (p.Ile1803Met)
c.1815C>G (p.Ile605Met)
c.5445C>G (p.Ile1815Met)
c.5991C>G (p.Ile1997Met)
n.333+3913G>C
c.5361C>G (p.Ile1787Met)
c.4806C>G (p.Ile1602Met)
c.2916C>G (p.Ile972Met)
c.6060C>G (p.Ile2020Met)
c.6564C>G (p.Ile2188Met)
c.6459C>G (p.Ile2153Met)
c.6246C>G (p.Ile2082Met)
c.6189C>G (p.Ile2063Met)
c.6105C>G (p.Ile2035Met)
c.6090C>G (p.Ile2030Met)
c.5994C>G (p.Ile1998Met)
c.5985C>G (p.Ile1995Met)
c.5967C>G (p.Ile1989Met)
c.5961C>G (p.Ile1987Met)
c.5934C>G (p.Ile1978Met)
c.5928C>G (p.Ile1976Met)
c.5910C>G (p.Ile1970Met)
c.5904C>G (p.Ile1968Met)
c.5901C>G (p.Ile1967Met)
c.5877C>G (p.Ile1959Met)
12g.2686227C>TCA477902666CACNA1C,CACNA1C-AS1c.5817C>T (p.Ile1939=)
c.5847C>T (p.Ile1949=)
c.5922C>T (p.Ile1974=)
c.5955C>T (p.Ile1985=)
c.5784C>T (p.Ile1928=)
c.5832C>T (p.Ile1944=)
c.6081C>T (p.Ile2027=)
c.5709C>T (p.Ile1903=)
c.5742C>T (p.Ile1914=)
c.5733C>T (p.Ile1911=)
c.5907C>T (p.Ile1969=)
n.867C>T
n.2245C>T
n.872C>T
c.5886C>T (p.Ile1962=)
c.5865C>T (p.Ile1955=)
c.5766C>T (p.Ile1922=)
c.5802C>T (p.Ile1934=)
c.5799C>T (p.Ile1933=)
c.5793C>T (p.Ile1931=)
c.5826C>T (p.Ile1942=)
c.5760C>T (p.Ile1920=)
c.5370C>T (p.Ile1790=)
c.5514C>T (p.Ile1838=)
c.5409C>T (p.Ile1803=)
c.1815C>T (p.Ile605=)
c.5445C>T (p.Ile1815=)
c.5991C>T (p.Ile1997=)
n.333+3913G>A
c.5361C>T (p.Ile1787=)
c.4806C>T (p.Ile1602=)
c.2916C>T (p.Ile972=)
c.6060C>T (p.Ile2020=)
c.6564C>T (p.Ile2188=)
c.6459C>T (p.Ile2153=)
c.6246C>T (p.Ile2082=)
c.6189C>T (p.Ile2063=)
c.6105C>T (p.Ile2035=)
c.6090C>T (p.Ile2030=)
c.5994C>T (p.Ile1998=)
c.5985C>T (p.Ile1995=)
c.5967C>T (p.Ile1989=)
c.5961C>T (p.Ile1987=)
c.5934C>T (p.Ile1978=)
c.5928C>T (p.Ile1976=)
c.5910C>T (p.Ile1970=)
c.5904C>T (p.Ile1968=)
c.5901C>T (p.Ile1967=)
c.5877C>T (p.Ile1959=)
12g.2686228T>ACA383382687CACNA1C,CACNA1C-AS1c.5818T>A (p.Ser1940Thr)
c.5848T>A (p.Ser1950Thr)
c.5923T>A (p.Ser1975Thr)
c.5956T>A (p.Ser1986Thr)
c.5785T>A (p.Ser1929Thr)
c.5833T>A (p.Ser1945Thr)
c.6082T>A (p.Ser2028Thr)
c.5710T>A (p.Ser1904Thr)
c.5743T>A (p.Ser1915Thr)
c.5734T>A (p.Ser1912Thr)
c.5908T>A (p.Ser1970Thr)
n.868T>A
n.2246T>A
n.873T>A
c.5887T>A (p.Ser1963Thr)
c.5866T>A (p.Ser1956Thr)
c.5767T>A (p.Ser1923Thr)
c.5803T>A (p.Ser1935Thr)
c.5800T>A (p.Ser1934Thr)
c.5794T>A (p.Ser1932Thr)
c.5827T>A (p.Ser1943Thr)
c.5761T>A (p.Ser1921Thr)
c.5371T>A (p.Ser1791Thr)
c.5515T>A (p.Ser1839Thr)
c.5410T>A (p.Ser1804Thr)
c.1816T>A (p.Ser606Thr)
c.5446T>A (p.Ser1816Thr)
c.5992T>A (p.Ser1998Thr)
n.333+3912A>T
c.5362T>A (p.Ser1788Thr)
c.4807T>A (p.Ser1603Thr)
c.2917T>A (p.Ser973Thr)
c.6061T>A (p.Ser2021Thr)
c.6565T>A (p.Ser2189Thr)
c.6460T>A (p.Ser2154Thr)
c.6247T>A (p.Ser2083Thr)
c.6190T>A (p.Ser2064Thr)
c.6106T>A (p.Ser2036Thr)
c.6091T>A (p.Ser2031Thr)
c.5995T>A (p.Ser1999Thr)
c.5986T>A (p.Ser1996Thr)
c.5968T>A (p.Ser1990Thr)
c.5962T>A (p.Ser1988Thr)
c.5935T>A (p.Ser1979Thr)
c.5929T>A (p.Ser1977Thr)
c.5911T>A (p.Ser1971Thr)
c.5905T>A (p.Ser1969Thr)
c.5902T>A (p.Ser1968Thr)
c.5878T>A (p.Ser1960Thr)
12g.2686228T>CCA383382689CACNA1C,CACNA1C-AS1c.5818T>C (p.Ser1940Pro)
c.5848T>C (p.Ser1950Pro)
c.5923T>C (p.Ser1975Pro)
c.5956T>C (p.Ser1986Pro)
c.5785T>C (p.Ser1929Pro)
c.5833T>C (p.Ser1945Pro)
c.6082T>C (p.Ser2028Pro)
c.5710T>C (p.Ser1904Pro)
c.5743T>C (p.Ser1915Pro)
c.5734T>C (p.Ser1912Pro)
c.5908T>C (p.Ser1970Pro)
n.868T>C
n.2246T>C
n.873T>C
c.5887T>C (p.Ser1963Pro)
c.5866T>C (p.Ser1956Pro)
c.5767T>C (p.Ser1923Pro)
c.5803T>C (p.Ser1935Pro)
c.5800T>C (p.Ser1934Pro)
c.5794T>C (p.Ser1932Pro)
c.5827T>C (p.Ser1943Pro)
c.5761T>C (p.Ser1921Pro)
c.5371T>C (p.Ser1791Pro)
c.5515T>C (p.Ser1839Pro)
c.5410T>C (p.Ser1804Pro)
c.1816T>C (p.Ser606Pro)
c.5446T>C (p.Ser1816Pro)
c.5992T>C (p.Ser1998Pro)
n.333+3912A>G
c.5362T>C (p.Ser1788Pro)
c.4807T>C (p.Ser1603Pro)
c.2917T>C (p.Ser973Pro)
c.6061T>C (p.Ser2021Pro)
c.6565T>C (p.Ser2189Pro)
c.6460T>C (p.Ser2154Pro)
c.6247T>C (p.Ser2083Pro)
c.6190T>C (p.Ser2064Pro)
c.6106T>C (p.Ser2036Pro)
c.6091T>C (p.Ser2031Pro)
c.5995T>C (p.Ser1999Pro)
c.5986T>C (p.Ser1996Pro)
c.5968T>C (p.Ser1990Pro)
c.5962T>C (p.Ser1988Pro)
c.5935T>C (p.Ser1979Pro)
c.5929T>C (p.Ser1977Pro)
c.5911T>C (p.Ser1971Pro)
c.5905T>C (p.Ser1969Pro)
c.5902T>C (p.Ser1968Pro)
c.5878T>C (p.Ser1960Pro)
12g.2686228T>GCA383382691CACNA1C,CACNA1C-AS1c.5818T>G (p.Ser1940Ala)
c.5848T>G (p.Ser1950Ala)
c.5923T>G (p.Ser1975Ala)
c.5956T>G (p.Ser1986Ala)
c.5785T>G (p.Ser1929Ala)
c.5833T>G (p.Ser1945Ala)
c.6082T>G (p.Ser2028Ala)
c.5710T>G (p.Ser1904Ala)
c.5743T>G (p.Ser1915Ala)
c.5734T>G (p.Ser1912Ala)
c.5908T>G (p.Ser1970Ala)
n.868T>G
n.2246T>G
n.873T>G
c.5887T>G (p.Ser1963Ala)
c.5866T>G (p.Ser1956Ala)
c.5767T>G (p.Ser1923Ala)
c.5803T>G (p.Ser1935Ala)
c.5800T>G (p.Ser1934Ala)
c.5794T>G (p.Ser1932Ala)
c.5827T>G (p.Ser1943Ala)
c.5761T>G (p.Ser1921Ala)
c.5371T>G (p.Ser1791Ala)
c.5515T>G (p.Ser1839Ala)
c.5410T>G (p.Ser1804Ala)
c.1816T>G (p.Ser606Ala)
c.5446T>G (p.Ser1816Ala)
c.5992T>G (p.Ser1998Ala)
n.333+3912A>C
c.5362T>G (p.Ser1788Ala)
c.4807T>G (p.Ser1603Ala)
c.2917T>G (p.Ser973Ala)
c.6061T>G (p.Ser2021Ala)
c.6565T>G (p.Ser2189Ala)
c.6460T>G (p.Ser2154Ala)
c.6247T>G (p.Ser2083Ala)
c.6190T>G (p.Ser2064Ala)
c.6106T>G (p.Ser2036Ala)
c.6091T>G (p.Ser2031Ala)
c.5995T>G (p.Ser1999Ala)
c.5986T>G (p.Ser1996Ala)
c.5968T>G (p.Ser1990Ala)
c.5962T>G (p.Ser1988Ala)
c.5935T>G (p.Ser1979Ala)
c.5929T>G (p.Ser1977Ala)
c.5911T>G (p.Ser1971Ala)
c.5905T>G (p.Ser1969Ala)
c.5902T>G (p.Ser1968Ala)
c.5878T>G (p.Ser1960Ala)
12g.2686229C>ACA383382696CACNA1C,CACNA1C-AS1c.5819C>A (p.Ser1940Tyr)
c.5849C>A (p.Ser1950Tyr)
c.5924C>A (p.Ser1975Tyr)
c.5957C>A (p.Ser1986Tyr)
c.5786C>A (p.Ser1929Tyr)
c.5834C>A (p.Ser1945Tyr)
c.6083C>A (p.Ser2028Tyr)
c.5711C>A (p.Ser1904Tyr)
c.5744C>A (p.Ser1915Tyr)
c.5735C>A (p.Ser1912Tyr)
c.5909C>A (p.Ser1970Tyr)
n.869C>A
n.2247C>A
n.874C>A
c.5888C>A (p.Ser1963Tyr)
c.5867C>A (p.Ser1956Tyr)
c.5768C>A (p.Ser1923Tyr)
c.5804C>A (p.Ser1935Tyr)
c.5801C>A (p.Ser1934Tyr)
c.5795C>A (p.Ser1932Tyr)
c.5828C>A (p.Ser1943Tyr)
c.5762C>A (p.Ser1921Tyr)
c.5372C>A (p.Ser1791Tyr)
c.5516C>A (p.Ser1839Tyr)
c.5411C>A (p.Ser1804Tyr)
c.1817C>A (p.Ser606Tyr)
c.5447C>A (p.Ser1816Tyr)
c.5993C>A (p.Ser1998Tyr)
n.333+3911G>T
c.5363C>A (p.Ser1788Tyr)
c.4808C>A (p.Ser1603Tyr)
c.2918C>A (p.Ser973Tyr)
c.6062C>A (p.Ser2021Tyr)
c.6566C>A (p.Ser2189Tyr)
c.6461C>A (p.Ser2154Tyr)
c.6248C>A (p.Ser2083Tyr)
c.6191C>A (p.Ser2064Tyr)
c.6107C>A (p.Ser2036Tyr)
c.6092C>A (p.Ser2031Tyr)
c.5996C>A (p.Ser1999Tyr)
c.5987C>A (p.Ser1996Tyr)
c.5969C>A (p.Ser1990Tyr)
c.5963C>A (p.Ser1988Tyr)
c.5936C>A (p.Ser1979Tyr)
c.5930C>A (p.Ser1977Tyr)
c.5912C>A (p.Ser1971Tyr)
c.5906C>A (p.Ser1969Tyr)
c.5903C>A (p.Ser1968Tyr)
c.5879C>A (p.Ser1960Tyr)
12g.2686229C=CA2012350982CACNA1C,CACNA1C-AS1c.5819C= (p.Ser1940=)
c.5849C= (p.Ser1950=)
c.5924C= (p.Ser1975=)
c.5957C= (p.Ser1986=)
c.5786C= (p.Ser1929=)
c.5834C= (p.Ser1945=)
c.6083C= (p.Ser2028=)
c.5711C= (p.Ser1904=)
c.5744C= (p.Ser1915=)
c.5735C= (p.Ser1912=)
c.5909C= (p.Ser1970=)
n.869C=
n.2247C=
n.874C=
c.5888C= (p.Ser1963=)
c.5867C= (p.Ser1956=)
c.5768C= (p.Ser1923=)
c.5804C= (p.Ser1935=)
c.5801C= (p.Ser1934=)
c.5795C= (p.Ser1932=)
c.5828C= (p.Ser1943=)
c.5762C= (p.Ser1921=)
c.5372C= (p.Ser1791=)
c.5516C= (p.Ser1839=)
c.5411C= (p.Ser1804=)
c.1817C= (p.Ser606=)
c.5447C= (p.Ser1816=)
c.5993C= (p.Ser1998=)
n.333+3911G=
c.5363C= (p.Ser1788=)
c.4808C= (p.Ser1603=)
c.2918C= (p.Ser973=)
c.6062C= (p.Ser2021=)
c.6566C= (p.Ser2189=)
c.6461C= (p.Ser2154=)
c.6248C= (p.Ser2083=)
c.6191C= (p.Ser2064=)
c.6107C= (p.Ser2036=)
c.6092C= (p.Ser2031=)
c.5996C= (p.Ser1999=)
c.5987C= (p.Ser1996=)
c.5969C= (p.Ser1990=)
c.5963C= (p.Ser1988=)
c.5936C= (p.Ser1979=)
c.5930C= (p.Ser1977=)
c.5912C= (p.Ser1971=)
c.5906C= (p.Ser1969=)
c.5903C= (p.Ser1968=)
c.5879C= (p.Ser1960=)

Number of alleles fetched