Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.2688602T>ACA383384642CACNA1C,CACNA1C-AS1c.6015T>A (p.Ser2005Arg)
c.6045T>A (p.Ser2015Arg)
c.6120T>A (p.Ser2040Arg)
c.6153T>A (p.Ser2051Arg)
c.5982T>A (p.Ser1994Arg)
c.6030T>A (p.Ser2010Arg)
c.6279T>A (p.Ser2093Arg)
c.5907T>A (p.Ser1969Arg)
c.5940T>A (p.Ser1980Arg)
c.5931T>A (p.Ser1977Arg)
c.6105T>A (p.Ser2035Arg)
n.2443T>A
c.6084T>A (p.Ser2028Arg)
c.6063T>A (p.Ser2021Arg)
c.5964T>A (p.Ser1988Arg)
c.6000T>A (p.Ser2000Arg)
c.5997T>A (p.Ser1999Arg)
c.5991T>A (p.Ser1997Arg)
c.6024T>A (p.Ser2008Arg)
c.5958T>A (p.Ser1986Arg)
c.5568T>A (p.Ser1856Arg)
c.5712T>A (p.Ser1904Arg)
c.5607T>A (p.Ser1869Arg)
c.2013T>A (p.Ser671Arg)
c.5643T>A (p.Ser1881Arg)
c.6189T>A (p.Ser2063Arg)
n.333+1538A>T
c.5559T>A (p.Ser1853Arg)
c.5004T>A (p.Ser1668Arg)
c.3114T>A (p.Ser1038Arg)
c.6258T>A (p.Ser2086Arg)
c.6762T>A (p.Ser2254Arg)
c.6657T>A (p.Ser2219Arg)
c.6444T>A (p.Ser2148Arg)
c.6387T>A (p.Ser2129Arg)
c.6303T>A (p.Ser2101Arg)
c.6288T>A (p.Ser2096Arg)
c.6192T>A (p.Ser2064Arg)
c.6183T>A (p.Ser2061Arg)
c.6165T>A (p.Ser2055Arg)
c.6159T>A (p.Ser2053Arg)
c.6132T>A (p.Ser2044Arg)
c.6126T>A (p.Ser2042Arg)
c.6108T>A (p.Ser2036Arg)
c.6102T>A (p.Ser2034Arg)
c.6099T>A (p.Ser2033Arg)
c.6075T>A (p.Ser2025Arg)
12g.2688602T>CCA478088134CACNA1C,CACNA1C-AS1c.6015T>C (p.Ser2005=)
c.6045T>C (p.Ser2015=)
c.6120T>C (p.Ser2040=)
c.6153T>C (p.Ser2051=)
c.5982T>C (p.Ser1994=)
c.6030T>C (p.Ser2010=)
c.6279T>C (p.Ser2093=)
c.5907T>C (p.Ser1969=)
c.5940T>C (p.Ser1980=)
c.5931T>C (p.Ser1977=)
c.6105T>C (p.Ser2035=)
n.2443T>C
c.6084T>C (p.Ser2028=)
c.6063T>C (p.Ser2021=)
c.5964T>C (p.Ser1988=)
c.6000T>C (p.Ser2000=)
c.5997T>C (p.Ser1999=)
c.5991T>C (p.Ser1997=)
c.6024T>C (p.Ser2008=)
c.5958T>C (p.Ser1986=)
c.5568T>C (p.Ser1856=)
c.5712T>C (p.Ser1904=)
c.5607T>C (p.Ser1869=)
c.2013T>C (p.Ser671=)
c.5643T>C (p.Ser1881=)
c.6189T>C (p.Ser2063=)
n.333+1538A>G
c.5559T>C (p.Ser1853=)
c.5004T>C (p.Ser1668=)
c.3114T>C (p.Ser1038=)
c.6258T>C (p.Ser2086=)
c.6762T>C (p.Ser2254=)
c.6657T>C (p.Ser2219=)
c.6444T>C (p.Ser2148=)
c.6387T>C (p.Ser2129=)
c.6303T>C (p.Ser2101=)
c.6288T>C (p.Ser2096=)
c.6192T>C (p.Ser2064=)
c.6183T>C (p.Ser2061=)
c.6165T>C (p.Ser2055=)
c.6159T>C (p.Ser2053=)
c.6132T>C (p.Ser2044=)
c.6126T>C (p.Ser2042=)
c.6108T>C (p.Ser2036=)
c.6102T>C (p.Ser2034=)
c.6099T>C (p.Ser2033=)
c.6075T>C (p.Ser2025=)
12g.2688602T>GCA383384643CACNA1C,CACNA1C-AS1c.6015T>G (p.Ser2005Arg)
c.6045T>G (p.Ser2015Arg)
c.6120T>G (p.Ser2040Arg)
c.6153T>G (p.Ser2051Arg)
c.5982T>G (p.Ser1994Arg)
c.6030T>G (p.Ser2010Arg)
c.6279T>G (p.Ser2093Arg)
c.5907T>G (p.Ser1969Arg)
c.5940T>G (p.Ser1980Arg)
c.5931T>G (p.Ser1977Arg)
c.6105T>G (p.Ser2035Arg)
n.2443T>G
c.6084T>G (p.Ser2028Arg)
c.6063T>G (p.Ser2021Arg)
c.5964T>G (p.Ser1988Arg)
c.6000T>G (p.Ser2000Arg)
c.5997T>G (p.Ser1999Arg)
c.5991T>G (p.Ser1997Arg)
c.6024T>G (p.Ser2008Arg)
c.5958T>G (p.Ser1986Arg)
c.5568T>G (p.Ser1856Arg)
c.5712T>G (p.Ser1904Arg)
c.5607T>G (p.Ser1869Arg)
c.2013T>G (p.Ser671Arg)
c.5643T>G (p.Ser1881Arg)
c.6189T>G (p.Ser2063Arg)
n.333+1538A>C
c.5559T>G (p.Ser1853Arg)
c.5004T>G (p.Ser1668Arg)
c.3114T>G (p.Ser1038Arg)
c.6258T>G (p.Ser2086Arg)
c.6762T>G (p.Ser2254Arg)
c.6657T>G (p.Ser2219Arg)
c.6444T>G (p.Ser2148Arg)
c.6387T>G (p.Ser2129Arg)
c.6303T>G (p.Ser2101Arg)
c.6288T>G (p.Ser2096Arg)
c.6192T>G (p.Ser2064Arg)
c.6183T>G (p.Ser2061Arg)
c.6165T>G (p.Ser2055Arg)
c.6159T>G (p.Ser2053Arg)
c.6132T>G (p.Ser2044Arg)
c.6126T>G (p.Ser2042Arg)
c.6108T>G (p.Ser2036Arg)
c.6102T>G (p.Ser2034Arg)
c.6099T>G (p.Ser2033Arg)
c.6075T>G (p.Ser2025Arg)
 gnomAD v4
12g.2688603G>ACA383384645CACNA1C,CACNA1C-AS1c.6016G>A (p.Glu2006Lys)
c.6046G>A (p.Glu2016Lys)
c.6121G>A (p.Glu2041Lys)
c.6154G>A (p.Glu2052Lys)
c.5983G>A (p.Glu1995Lys)
c.6031G>A (p.Glu2011Lys)
c.6280G>A (p.Glu2094Lys)
c.5908G>A (p.Glu1970Lys)
c.5941G>A (p.Glu1981Lys)
c.5932G>A (p.Glu1978Lys)
c.6106G>A (p.Glu2036Lys)
n.2444G>A
c.6085G>A (p.Glu2029Lys)
c.6064G>A (p.Glu2022Lys)
c.5965G>A (p.Glu1989Lys)
c.6001G>A (p.Glu2001Lys)
c.5998G>A (p.Glu2000Lys)
c.5992G>A (p.Glu1998Lys)
c.6025G>A (p.Glu2009Lys)
c.5959G>A (p.Glu1987Lys)
c.5569G>A (p.Glu1857Lys)
c.5713G>A (p.Glu1905Lys)
c.5608G>A (p.Glu1870Lys)
c.2014G>A (p.Glu672Lys)
c.5644G>A (p.Glu1882Lys)
c.6190G>A (p.Glu2064Lys)
n.333+1537C>T
c.5560G>A (p.Glu1854Lys)
c.5005G>A (p.Glu1669Lys)
c.3115G>A (p.Glu1039Lys)
c.6259G>A (p.Glu2087Lys)
c.6763G>A (p.Glu2255Lys)
c.6658G>A (p.Glu2220Lys)
c.6445G>A (p.Glu2149Lys)
c.6388G>A (p.Glu2130Lys)
c.6304G>A (p.Glu2102Lys)
c.6289G>A (p.Glu2097Lys)
c.6193G>A (p.Glu2065Lys)
c.6184G>A (p.Glu2062Lys)
c.6166G>A (p.Glu2056Lys)
c.6160G>A (p.Glu2054Lys)
c.6133G>A (p.Glu2045Lys)
c.6127G>A (p.Glu2043Lys)
c.6109G>A (p.Glu2037Lys)
c.6103G>A (p.Glu2035Lys)
c.6100G>A (p.Glu2034Lys)
c.6076G>A (p.Glu2026Lys)
12g.2688603G>CCA383384647CACNA1C,CACNA1C-AS1c.6016G>C (p.Glu2006Gln)
c.6046G>C (p.Glu2016Gln)
c.6121G>C (p.Glu2041Gln)
c.6154G>C (p.Glu2052Gln)
c.5983G>C (p.Glu1995Gln)
c.6031G>C (p.Glu2011Gln)
c.6280G>C (p.Glu2094Gln)
c.5908G>C (p.Glu1970Gln)
c.5941G>C (p.Glu1981Gln)
c.5932G>C (p.Glu1978Gln)
c.6106G>C (p.Glu2036Gln)
n.2444G>C
c.6085G>C (p.Glu2029Gln)
c.6064G>C (p.Glu2022Gln)
c.5965G>C (p.Glu1989Gln)
c.6001G>C (p.Glu2001Gln)
c.5998G>C (p.Glu2000Gln)
c.5992G>C (p.Glu1998Gln)
c.6025G>C (p.Glu2009Gln)
c.5959G>C (p.Glu1987Gln)
c.5569G>C (p.Glu1857Gln)
c.5713G>C (p.Glu1905Gln)
c.5608G>C (p.Glu1870Gln)
c.2014G>C (p.Glu672Gln)
c.5644G>C (p.Glu1882Gln)
c.6190G>C (p.Glu2064Gln)
n.333+1537C>G
c.5560G>C (p.Glu1854Gln)
c.5005G>C (p.Glu1669Gln)
c.3115G>C (p.Glu1039Gln)
c.6259G>C (p.Glu2087Gln)
c.6763G>C (p.Glu2255Gln)
c.6658G>C (p.Glu2220Gln)
c.6445G>C (p.Glu2149Gln)
c.6388G>C (p.Glu2130Gln)
c.6304G>C (p.Glu2102Gln)
c.6289G>C (p.Glu2097Gln)
c.6193G>C (p.Glu2065Gln)
c.6184G>C (p.Glu2062Gln)
c.6166G>C (p.Glu2056Gln)
c.6160G>C (p.Glu2054Gln)
c.6133G>C (p.Glu2045Gln)
c.6127G>C (p.Glu2043Gln)
c.6109G>C (p.Glu2037Gln)
c.6103G>C (p.Glu2035Gln)
c.6100G>C (p.Glu2034Gln)
c.6076G>C (p.Glu2026Gln)
12g.2688603G=CA2012352042CACNA1C,CACNA1C-AS1c.6016G= (p.Glu2006=)
c.6046G= (p.Glu2016=)
c.6121G= (p.Glu2041=)
c.6154G= (p.Glu2052=)
c.5983G= (p.Glu1995=)
c.6031G= (p.Glu2011=)
c.6280G= (p.Glu2094=)
c.5908G= (p.Glu1970=)
c.5941G= (p.Glu1981=)
c.5932G= (p.Glu1978=)
c.6106G= (p.Glu2036=)
n.2444G=
c.6085G= (p.Glu2029=)
c.6064G= (p.Glu2022=)
c.5965G= (p.Glu1989=)
c.6001G= (p.Glu2001=)
c.5998G= (p.Glu2000=)
c.5992G= (p.Glu1998=)
c.6025G= (p.Glu2009=)
c.5959G= (p.Glu1987=)
c.5569G= (p.Glu1857=)
c.5713G= (p.Glu1905=)
c.5608G= (p.Glu1870=)
c.2014G= (p.Glu672=)
c.5644G= (p.Glu1882=)
c.6190G= (p.Glu2064=)
n.333+1537C=
c.5560G= (p.Glu1854=)
c.5005G= (p.Glu1669=)
c.3115G= (p.Glu1039=)
c.6259G= (p.Glu2087=)
c.6763G= (p.Glu2255=)
c.6658G= (p.Glu2220=)
c.6445G= (p.Glu2149=)
c.6388G= (p.Glu2130=)
c.6304G= (p.Glu2102=)
c.6289G= (p.Glu2097=)
c.6193G= (p.Glu2065=)
c.6184G= (p.Glu2062=)
c.6166G= (p.Glu2056=)
c.6160G= (p.Glu2054=)
c.6133G= (p.Glu2045=)
c.6127G= (p.Glu2043=)
c.6109G= (p.Glu2037=)
c.6103G= (p.Glu2035=)
c.6100G= (p.Glu2034=)
c.6076G= (p.Glu2026=)
12g.2688603G>TCA383384649CACNA1C,CACNA1C-AS1c.6016G>T (p.Glu2006Ter)
c.6046G>T (p.Glu2016Ter)
c.6121G>T (p.Glu2041Ter)
c.6154G>T (p.Glu2052Ter)
c.5983G>T (p.Glu1995Ter)
c.6031G>T (p.Glu2011Ter)
c.6280G>T (p.Glu2094Ter)
c.5908G>T (p.Glu1970Ter)
c.5941G>T (p.Glu1981Ter)
c.5932G>T (p.Glu1978Ter)
c.6106G>T (p.Glu2036Ter)
n.2444G>T
c.6085G>T (p.Glu2029Ter)
c.6064G>T (p.Glu2022Ter)
c.5965G>T (p.Glu1989Ter)
c.6001G>T (p.Glu2001Ter)
c.5998G>T (p.Glu2000Ter)
c.5992G>T (p.Glu1998Ter)
c.6025G>T (p.Glu2009Ter)
c.5959G>T (p.Glu1987Ter)
c.5569G>T (p.Glu1857Ter)
c.5713G>T (p.Glu1905Ter)
c.5608G>T (p.Glu1870Ter)
c.2014G>T (p.Glu672Ter)
c.5644G>T (p.Glu1882Ter)
c.6190G>T (p.Glu2064Ter)
n.333+1537C>A
c.5560G>T (p.Glu1854Ter)
c.5005G>T (p.Glu1669Ter)
c.3115G>T (p.Glu1039Ter)
c.6259G>T (p.Glu2087Ter)
c.6763G>T (p.Glu2255Ter)
c.6658G>T (p.Glu2220Ter)
c.6445G>T (p.Glu2149Ter)
c.6388G>T (p.Glu2130Ter)
c.6304G>T (p.Glu2102Ter)
c.6289G>T (p.Glu2097Ter)
c.6193G>T (p.Glu2065Ter)
c.6184G>T (p.Glu2062Ter)
c.6166G>T (p.Glu2056Ter)
c.6160G>T (p.Glu2054Ter)
c.6133G>T (p.Glu2045Ter)
c.6127G>T (p.Glu2043Ter)
c.6109G>T (p.Glu2037Ter)
c.6103G>T (p.Glu2035Ter)
c.6100G>T (p.Glu2034Ter)
c.6076G>T (p.Glu2026Ter)
 dbSNP
12g.2688604A>CCA383384651CACNA1C,CACNA1C-AS1c.6017A>C (p.Glu2006Ala)
c.6047A>C (p.Glu2016Ala)
c.6122A>C (p.Glu2041Ala)
c.6155A>C (p.Glu2052Ala)
c.5984A>C (p.Glu1995Ala)
c.6032A>C (p.Glu2011Ala)
c.6281A>C (p.Glu2094Ala)
c.5909A>C (p.Glu1970Ala)
c.5942A>C (p.Glu1981Ala)
c.5933A>C (p.Glu1978Ala)
c.6107A>C (p.Glu2036Ala)
n.2445A>C
c.6086A>C (p.Glu2029Ala)
c.6065A>C (p.Glu2022Ala)
c.5966A>C (p.Glu1989Ala)
c.6002A>C (p.Glu2001Ala)
c.5999A>C (p.Glu2000Ala)
c.5993A>C (p.Glu1998Ala)
c.6026A>C (p.Glu2009Ala)
c.5960A>C (p.Glu1987Ala)
c.5570A>C (p.Glu1857Ala)
c.5714A>C (p.Glu1905Ala)
c.5609A>C (p.Glu1870Ala)
c.2015A>C (p.Glu672Ala)
c.5645A>C (p.Glu1882Ala)
c.6191A>C (p.Glu2064Ala)
n.333+1536T>G
c.5561A>C (p.Glu1854Ala)
c.5006A>C (p.Glu1669Ala)
c.3116A>C (p.Glu1039Ala)
c.6260A>C (p.Glu2087Ala)
c.6764A>C (p.Glu2255Ala)
c.6659A>C (p.Glu2220Ala)
c.6446A>C (p.Glu2149Ala)
c.6389A>C (p.Glu2130Ala)
c.6305A>C (p.Glu2102Ala)
c.6290A>C (p.Glu2097Ala)
c.6194A>C (p.Glu2065Ala)
c.6185A>C (p.Glu2062Ala)
c.6167A>C (p.Glu2056Ala)
c.6161A>C (p.Glu2054Ala)
c.6134A>C (p.Glu2045Ala)
c.6128A>C (p.Glu2043Ala)
c.6110A>C (p.Glu2037Ala)
c.6104A>C (p.Glu2035Ala)
c.6101A>C (p.Glu2034Ala)
c.6077A>C (p.Glu2026Ala)
12g.2688604A>GCA383384655CACNA1C,CACNA1C-AS1c.6017A>G (p.Glu2006Gly)
c.6047A>G (p.Glu2016Gly)
c.6122A>G (p.Glu2041Gly)
c.6155A>G (p.Glu2052Gly)
c.5984A>G (p.Glu1995Gly)
c.6032A>G (p.Glu2011Gly)
c.6281A>G (p.Glu2094Gly)
c.5909A>G (p.Glu1970Gly)
c.5942A>G (p.Glu1981Gly)
c.5933A>G (p.Glu1978Gly)
c.6107A>G (p.Glu2036Gly)
n.2445A>G
c.6086A>G (p.Glu2029Gly)
c.6065A>G (p.Glu2022Gly)
c.5966A>G (p.Glu1989Gly)
c.6002A>G (p.Glu2001Gly)
c.5999A>G (p.Glu2000Gly)
c.5993A>G (p.Glu1998Gly)
c.6026A>G (p.Glu2009Gly)
c.5960A>G (p.Glu1987Gly)
c.5570A>G (p.Glu1857Gly)
c.5714A>G (p.Glu1905Gly)
c.5609A>G (p.Glu1870Gly)
c.2015A>G (p.Glu672Gly)
c.5645A>G (p.Glu1882Gly)
c.6191A>G (p.Glu2064Gly)
n.333+1536T>C
c.5561A>G (p.Glu1854Gly)
c.5006A>G (p.Glu1669Gly)
c.3116A>G (p.Glu1039Gly)
c.6260A>G (p.Glu2087Gly)
c.6764A>G (p.Glu2255Gly)
c.6659A>G (p.Glu2220Gly)
c.6446A>G (p.Glu2149Gly)
c.6389A>G (p.Glu2130Gly)
c.6305A>G (p.Glu2102Gly)
c.6290A>G (p.Glu2097Gly)
c.6194A>G (p.Glu2065Gly)
c.6185A>G (p.Glu2062Gly)
c.6167A>G (p.Glu2056Gly)
c.6161A>G (p.Glu2054Gly)
c.6134A>G (p.Glu2045Gly)
c.6128A>G (p.Glu2043Gly)
c.6110A>G (p.Glu2037Gly)
c.6104A>G (p.Glu2035Gly)
c.6101A>G (p.Glu2034Gly)
c.6077A>G (p.Glu2026Gly)
12g.2688604A>TCA383384653CACNA1C,CACNA1C-AS1c.6017A>T (p.Glu2006Val)
c.6047A>T (p.Glu2016Val)
c.6122A>T (p.Glu2041Val)
c.6155A>T (p.Glu2052Val)
c.5984A>T (p.Glu1995Val)
c.6032A>T (p.Glu2011Val)
c.6281A>T (p.Glu2094Val)
c.5909A>T (p.Glu1970Val)
c.5942A>T (p.Glu1981Val)
c.5933A>T (p.Glu1978Val)
c.6107A>T (p.Glu2036Val)
n.2445A>T
c.6086A>T (p.Glu2029Val)
c.6065A>T (p.Glu2022Val)
c.5966A>T (p.Glu1989Val)
c.6002A>T (p.Glu2001Val)
c.5999A>T (p.Glu2000Val)
c.5993A>T (p.Glu1998Val)
c.6026A>T (p.Glu2009Val)
c.5960A>T (p.Glu1987Val)
c.5570A>T (p.Glu1857Val)
c.5714A>T (p.Glu1905Val)
c.5609A>T (p.Glu1870Val)
c.2015A>T (p.Glu672Val)
c.5645A>T (p.Glu1882Val)
c.6191A>T (p.Glu2064Val)
n.333+1536T>A
c.5561A>T (p.Glu1854Val)
c.5006A>T (p.Glu1669Val)
c.3116A>T (p.Glu1039Val)
c.6260A>T (p.Glu2087Val)
c.6764A>T (p.Glu2255Val)
c.6659A>T (p.Glu2220Val)
c.6446A>T (p.Glu2149Val)
c.6389A>T (p.Glu2130Val)
c.6305A>T (p.Glu2102Val)
c.6290A>T (p.Glu2097Val)
c.6194A>T (p.Glu2065Val)
c.6185A>T (p.Glu2062Val)
c.6167A>T (p.Glu2056Val)
c.6161A>T (p.Glu2054Val)
c.6134A>T (p.Glu2045Val)
c.6128A>T (p.Glu2043Val)
c.6110A>T (p.Glu2037Val)
c.6104A>T (p.Glu2035Val)
c.6101A>T (p.Glu2034Val)
c.6077A>T (p.Glu2026Val)
12g.2688605G>ACA478088138CACNA1C,CACNA1C-AS1c.6018G>A (p.Glu2006=)
c.6048G>A (p.Glu2016=)
c.6123G>A (p.Glu2041=)
c.6156G>A (p.Glu2052=)
c.5985G>A (p.Glu1995=)
c.6033G>A (p.Glu2011=)
c.6282G>A (p.Glu2094=)
c.5910G>A (p.Glu1970=)
c.5943G>A (p.Glu1981=)
c.5934G>A (p.Glu1978=)
c.6108G>A (p.Glu2036=)
n.2446G>A
c.6087G>A (p.Glu2029=)
c.6066G>A (p.Glu2022=)
c.5967G>A (p.Glu1989=)
c.6003G>A (p.Glu2001=)
c.6000G>A (p.Glu2000=)
c.5994G>A (p.Glu1998=)
c.6027G>A (p.Glu2009=)
c.5961G>A (p.Glu1987=)
c.5571G>A (p.Glu1857=)
c.5715G>A (p.Glu1905=)
c.5610G>A (p.Glu1870=)
c.2016G>A (p.Glu672=)
c.5646G>A (p.Glu1882=)
c.6192G>A (p.Glu2064=)
n.333+1535C>T
c.5562G>A (p.Glu1854=)
c.5007G>A (p.Glu1669=)
c.3117G>A (p.Glu1039=)
c.6261G>A (p.Glu2087=)
c.6765G>A (p.Glu2255=)
c.6660G>A (p.Glu2220=)
c.6447G>A (p.Glu2149=)
c.6390G>A (p.Glu2130=)
c.6306G>A (p.Glu2102=)
c.6291G>A (p.Glu2097=)
c.6195G>A (p.Glu2065=)
c.6186G>A (p.Glu2062=)
c.6168G>A (p.Glu2056=)
c.6162G>A (p.Glu2054=)
c.6135G>A (p.Glu2045=)
c.6129G>A (p.Glu2043=)
c.6111G>A (p.Glu2037=)
c.6105G>A (p.Glu2035=)
c.6102G>A (p.Glu2034=)
c.6078G>A (p.Glu2026=)
12g.2688605G>CCA383384656CACNA1C,CACNA1C-AS1c.6018G>C (p.Glu2006Asp)
c.6048G>C (p.Glu2016Asp)
c.6123G>C (p.Glu2041Asp)
c.6156G>C (p.Glu2052Asp)
c.5985G>C (p.Glu1995Asp)
c.6033G>C (p.Glu2011Asp)
c.6282G>C (p.Glu2094Asp)
c.5910G>C (p.Glu1970Asp)
c.5943G>C (p.Glu1981Asp)
c.5934G>C (p.Glu1978Asp)
c.6108G>C (p.Glu2036Asp)
n.2446G>C
c.6087G>C (p.Glu2029Asp)
c.6066G>C (p.Glu2022Asp)
c.5967G>C (p.Glu1989Asp)
c.6003G>C (p.Glu2001Asp)
c.6000G>C (p.Glu2000Asp)
c.5994G>C (p.Glu1998Asp)
c.6027G>C (p.Glu2009Asp)
c.5961G>C (p.Glu1987Asp)
c.5571G>C (p.Glu1857Asp)
c.5715G>C (p.Glu1905Asp)
c.5610G>C (p.Glu1870Asp)
c.2016G>C (p.Glu672Asp)
c.5646G>C (p.Glu1882Asp)
c.6192G>C (p.Glu2064Asp)
n.333+1535C>G
c.5562G>C (p.Glu1854Asp)
c.5007G>C (p.Glu1669Asp)
c.3117G>C (p.Glu1039Asp)
c.6261G>C (p.Glu2087Asp)
c.6765G>C (p.Glu2255Asp)
c.6660G>C (p.Glu2220Asp)
c.6447G>C (p.Glu2149Asp)
c.6390G>C (p.Glu2130Asp)
c.6306G>C (p.Glu2102Asp)
c.6291G>C (p.Glu2097Asp)
c.6195G>C (p.Glu2065Asp)
c.6186G>C (p.Glu2062Asp)
c.6168G>C (p.Glu2056Asp)
c.6162G>C (p.Glu2054Asp)
c.6135G>C (p.Glu2045Asp)
c.6129G>C (p.Glu2043Asp)
c.6111G>C (p.Glu2037Asp)
c.6105G>C (p.Glu2035Asp)
c.6102G>C (p.Glu2034Asp)
c.6078G>C (p.Glu2026Asp)
12g.2688605G>TCA383384657CACNA1C,CACNA1C-AS1c.6018G>T (p.Glu2006Asp)
c.6048G>T (p.Glu2016Asp)
c.6123G>T (p.Glu2041Asp)
c.6156G>T (p.Glu2052Asp)
c.5985G>T (p.Glu1995Asp)
c.6033G>T (p.Glu2011Asp)
c.6282G>T (p.Glu2094Asp)
c.5910G>T (p.Glu1970Asp)
c.5943G>T (p.Glu1981Asp)
c.5934G>T (p.Glu1978Asp)
c.6108G>T (p.Glu2036Asp)
n.2446G>T
c.6087G>T (p.Glu2029Asp)
c.6066G>T (p.Glu2022Asp)
c.5967G>T (p.Glu1989Asp)
c.6003G>T (p.Glu2001Asp)
c.6000G>T (p.Glu2000Asp)
c.5994G>T (p.Glu1998Asp)
c.6027G>T (p.Glu2009Asp)
c.5961G>T (p.Glu1987Asp)
c.5571G>T (p.Glu1857Asp)
c.5715G>T (p.Glu1905Asp)
c.5610G>T (p.Glu1870Asp)
c.2016G>T (p.Glu672Asp)
c.5646G>T (p.Glu1882Asp)
c.6192G>T (p.Glu2064Asp)
n.333+1535C>A
c.5562G>T (p.Glu1854Asp)
c.5007G>T (p.Glu1669Asp)
c.3117G>T (p.Glu1039Asp)
c.6261G>T (p.Glu2087Asp)
c.6765G>T (p.Glu2255Asp)
c.6660G>T (p.Glu2220Asp)
c.6447G>T (p.Glu2149Asp)
c.6390G>T (p.Glu2130Asp)
c.6306G>T (p.Glu2102Asp)
c.6291G>T (p.Glu2097Asp)
c.6195G>T (p.Glu2065Asp)
c.6186G>T (p.Glu2062Asp)
c.6168G>T (p.Glu2056Asp)
c.6162G>T (p.Glu2054Asp)
c.6135G>T (p.Glu2045Asp)
c.6129G>T (p.Glu2043Asp)
c.6111G>T (p.Glu2037Asp)
c.6105G>T (p.Glu2035Asp)
c.6102G>T (p.Glu2034Asp)
c.6078G>T (p.Glu2026Asp)
12g.2688606A>CCA383384659CACNA1C,CACNA1C-AS1c.6019A>C (p.Lys2007Gln)
c.6049A>C (p.Lys2017Gln)
c.6124A>C (p.Lys2042Gln)
c.6157A>C (p.Lys2053Gln)
c.5986A>C (p.Lys1996Gln)
c.6034A>C (p.Lys2012Gln)
c.6283A>C (p.Lys2095Gln)
c.5911A>C (p.Lys1971Gln)
c.5944A>C (p.Lys1982Gln)
c.5935A>C (p.Lys1979Gln)
c.6109A>C (p.Lys2037Gln)
n.2447A>C
c.6088A>C (p.Lys2030Gln)
c.6067A>C (p.Lys2023Gln)
c.5968A>C (p.Lys1990Gln)
c.6004A>C (p.Lys2002Gln)
c.6001A>C (p.Lys2001Gln)
c.5995A>C (p.Lys1999Gln)
c.6028A>C (p.Lys2010Gln)
c.5962A>C (p.Lys1988Gln)
c.5572A>C (p.Lys1858Gln)
c.5716A>C (p.Lys1906Gln)
c.5611A>C (p.Lys1871Gln)
c.2017A>C (p.Lys673Gln)
c.5647A>C (p.Lys1883Gln)
c.6193A>C (p.Lys2065Gln)
n.333+1534T>G
c.5563A>C (p.Lys1855Gln)
c.5008A>C (p.Lys1670Gln)
c.3118A>C (p.Lys1040Gln)
c.6262A>C (p.Lys2088Gln)
c.6766A>C (p.Lys2256Gln)
c.6661A>C (p.Lys2221Gln)
c.6448A>C (p.Lys2150Gln)
c.6391A>C (p.Lys2131Gln)
c.6307A>C (p.Lys2103Gln)
c.6292A>C (p.Lys2098Gln)
c.6196A>C (p.Lys2066Gln)
c.6187A>C (p.Lys2063Gln)
c.6169A>C (p.Lys2057Gln)
c.6163A>C (p.Lys2055Gln)
c.6136A>C (p.Lys2046Gln)
c.6130A>C (p.Lys2044Gln)
c.6112A>C (p.Lys2038Gln)
c.6106A>C (p.Lys2036Gln)
c.6103A>C (p.Lys2035Gln)
c.6079A>C (p.Lys2027Gln)
12g.2688606A>GCA383384661CACNA1C,CACNA1C-AS1c.6019A>G (p.Lys2007Glu)
c.6049A>G (p.Lys2017Glu)
c.6124A>G (p.Lys2042Glu)
c.6157A>G (p.Lys2053Glu)
c.5986A>G (p.Lys1996Glu)
c.6034A>G (p.Lys2012Glu)
c.6283A>G (p.Lys2095Glu)
c.5911A>G (p.Lys1971Glu)
c.5944A>G (p.Lys1982Glu)
c.5935A>G (p.Lys1979Glu)
c.6109A>G (p.Lys2037Glu)
n.2447A>G
c.6088A>G (p.Lys2030Glu)
c.6067A>G (p.Lys2023Glu)
c.5968A>G (p.Lys1990Glu)
c.6004A>G (p.Lys2002Glu)
c.6001A>G (p.Lys2001Glu)
c.5995A>G (p.Lys1999Glu)
c.6028A>G (p.Lys2010Glu)
c.5962A>G (p.Lys1988Glu)
c.5572A>G (p.Lys1858Glu)
c.5716A>G (p.Lys1906Glu)
c.5611A>G (p.Lys1871Glu)
c.2017A>G (p.Lys673Glu)
c.5647A>G (p.Lys1883Glu)
c.6193A>G (p.Lys2065Glu)
n.333+1534T>C
c.5563A>G (p.Lys1855Glu)
c.5008A>G (p.Lys1670Glu)
c.3118A>G (p.Lys1040Glu)
c.6262A>G (p.Lys2088Glu)
c.6766A>G (p.Lys2256Glu)
c.6661A>G (p.Lys2221Glu)
c.6448A>G (p.Lys2150Glu)
c.6391A>G (p.Lys2131Glu)
c.6307A>G (p.Lys2103Glu)
c.6292A>G (p.Lys2098Glu)
c.6196A>G (p.Lys2066Glu)
c.6187A>G (p.Lys2063Glu)
c.6169A>G (p.Lys2057Glu)
c.6163A>G (p.Lys2055Glu)
c.6136A>G (p.Lys2046Glu)
c.6130A>G (p.Lys2044Glu)
c.6112A>G (p.Lys2038Glu)
c.6106A>G (p.Lys2036Glu)
c.6103A>G (p.Lys2035Glu)
c.6079A>G (p.Lys2027Glu)
 gnomAD v4
12g.2688606A>TCA383384663CACNA1C,CACNA1C-AS1c.6019A>T (p.Lys2007Ter)
c.6049A>T (p.Lys2017Ter)
c.6124A>T (p.Lys2042Ter)
c.6157A>T (p.Lys2053Ter)
c.5986A>T (p.Lys1996Ter)
c.6034A>T (p.Lys2012Ter)
c.6283A>T (p.Lys2095Ter)
c.5911A>T (p.Lys1971Ter)
c.5944A>T (p.Lys1982Ter)
c.5935A>T (p.Lys1979Ter)
c.6109A>T (p.Lys2037Ter)
n.2447A>T
c.6088A>T (p.Lys2030Ter)
c.6067A>T (p.Lys2023Ter)
c.5968A>T (p.Lys1990Ter)
c.6004A>T (p.Lys2002Ter)
c.6001A>T (p.Lys2001Ter)
c.5995A>T (p.Lys1999Ter)
c.6028A>T (p.Lys2010Ter)
c.5962A>T (p.Lys1988Ter)
c.5572A>T (p.Lys1858Ter)
c.5716A>T (p.Lys1906Ter)
c.5611A>T (p.Lys1871Ter)
c.2017A>T (p.Lys673Ter)
c.5647A>T (p.Lys1883Ter)
c.6193A>T (p.Lys2065Ter)
n.333+1534T>A
c.5563A>T (p.Lys1855Ter)
c.5008A>T (p.Lys1670Ter)
c.3118A>T (p.Lys1040Ter)
c.6262A>T (p.Lys2088Ter)
c.6766A>T (p.Lys2256Ter)
c.6661A>T (p.Lys2221Ter)
c.6448A>T (p.Lys2150Ter)
c.6391A>T (p.Lys2131Ter)
c.6307A>T (p.Lys2103Ter)
c.6292A>T (p.Lys2098Ter)
c.6196A>T (p.Lys2066Ter)
c.6187A>T (p.Lys2063Ter)
c.6169A>T (p.Lys2057Ter)
c.6163A>T (p.Lys2055Ter)
c.6136A>T (p.Lys2046Ter)
c.6130A>T (p.Lys2044Ter)
c.6112A>T (p.Lys2038Ter)
c.6106A>T (p.Lys2036Ter)
c.6103A>T (p.Lys2035Ter)
c.6079A>T (p.Lys2027Ter)
12g.2688607A>CCA383384665CACNA1C,CACNA1C-AS1c.6020A>C (p.Lys2007Thr)
c.6050A>C (p.Lys2017Thr)
c.6125A>C (p.Lys2042Thr)
c.6158A>C (p.Lys2053Thr)
c.5987A>C (p.Lys1996Thr)
c.6035A>C (p.Lys2012Thr)
c.6284A>C (p.Lys2095Thr)
c.5912A>C (p.Lys1971Thr)
c.5945A>C (p.Lys1982Thr)
c.5936A>C (p.Lys1979Thr)
c.6110A>C (p.Lys2037Thr)
n.2448A>C
c.6089A>C (p.Lys2030Thr)
c.6068A>C (p.Lys2023Thr)
c.5969A>C (p.Lys1990Thr)
c.6005A>C (p.Lys2002Thr)
c.6002A>C (p.Lys2001Thr)
c.5996A>C (p.Lys1999Thr)
c.6029A>C (p.Lys2010Thr)
c.5963A>C (p.Lys1988Thr)
c.5573A>C (p.Lys1858Thr)
c.5717A>C (p.Lys1906Thr)
c.5612A>C (p.Lys1871Thr)
c.2018A>C (p.Lys673Thr)
c.5648A>C (p.Lys1883Thr)
c.6194A>C (p.Lys2065Thr)
n.333+1533T>G
c.5564A>C (p.Lys1855Thr)
c.5009A>C (p.Lys1670Thr)
c.3119A>C (p.Lys1040Thr)
c.6263A>C (p.Lys2088Thr)
c.6767A>C (p.Lys2256Thr)
c.6662A>C (p.Lys2221Thr)
c.6449A>C (p.Lys2150Thr)
c.6392A>C (p.Lys2131Thr)
c.6308A>C (p.Lys2103Thr)
c.6293A>C (p.Lys2098Thr)
c.6197A>C (p.Lys2066Thr)
c.6188A>C (p.Lys2063Thr)
c.6170A>C (p.Lys2057Thr)
c.6164A>C (p.Lys2055Thr)
c.6137A>C (p.Lys2046Thr)
c.6131A>C (p.Lys2044Thr)
c.6113A>C (p.Lys2038Thr)
c.6107A>C (p.Lys2036Thr)
c.6104A>C (p.Lys2035Thr)
c.6080A>C (p.Lys2027Thr)
12g.2688607A>GCA383384667CACNA1C,CACNA1C-AS1c.6020A>G (p.Lys2007Arg)
c.6050A>G (p.Lys2017Arg)
c.6125A>G (p.Lys2042Arg)
c.6158A>G (p.Lys2053Arg)
c.5987A>G (p.Lys1996Arg)
c.6035A>G (p.Lys2012Arg)
c.6284A>G (p.Lys2095Arg)
c.5912A>G (p.Lys1971Arg)
c.5945A>G (p.Lys1982Arg)
c.5936A>G (p.Lys1979Arg)
c.6110A>G (p.Lys2037Arg)
n.2448A>G
c.6089A>G (p.Lys2030Arg)
c.6068A>G (p.Lys2023Arg)
c.5969A>G (p.Lys1990Arg)
c.6005A>G (p.Lys2002Arg)
c.6002A>G (p.Lys2001Arg)
c.5996A>G (p.Lys1999Arg)
c.6029A>G (p.Lys2010Arg)
c.5963A>G (p.Lys1988Arg)
c.5573A>G (p.Lys1858Arg)
c.5717A>G (p.Lys1906Arg)
c.5612A>G (p.Lys1871Arg)
c.2018A>G (p.Lys673Arg)
c.5648A>G (p.Lys1883Arg)
c.6194A>G (p.Lys2065Arg)
n.333+1533T>C
c.5564A>G (p.Lys1855Arg)
c.5009A>G (p.Lys1670Arg)
c.3119A>G (p.Lys1040Arg)
c.6263A>G (p.Lys2088Arg)
c.6767A>G (p.Lys2256Arg)
c.6662A>G (p.Lys2221Arg)
c.6449A>G (p.Lys2150Arg)
c.6392A>G (p.Lys2131Arg)
c.6308A>G (p.Lys2103Arg)
c.6293A>G (p.Lys2098Arg)
c.6197A>G (p.Lys2066Arg)
c.6188A>G (p.Lys2063Arg)
c.6170A>G (p.Lys2057Arg)
c.6164A>G (p.Lys2055Arg)
c.6137A>G (p.Lys2046Arg)
c.6131A>G (p.Lys2044Arg)
c.6113A>G (p.Lys2038Arg)
c.6107A>G (p.Lys2036Arg)
c.6104A>G (p.Lys2035Arg)
c.6080A>G (p.Lys2027Arg)
12g.2688607A>TCA383384669CACNA1C,CACNA1C-AS1c.6020A>T (p.Lys2007Ile)
c.6050A>T (p.Lys2017Ile)
c.6125A>T (p.Lys2042Ile)
c.6158A>T (p.Lys2053Ile)
c.5987A>T (p.Lys1996Ile)
c.6035A>T (p.Lys2012Ile)
c.6284A>T (p.Lys2095Ile)
c.5912A>T (p.Lys1971Ile)
c.5945A>T (p.Lys1982Ile)
c.5936A>T (p.Lys1979Ile)
c.6110A>T (p.Lys2037Ile)
n.2448A>T
c.6089A>T (p.Lys2030Ile)
c.6068A>T (p.Lys2023Ile)
c.5969A>T (p.Lys1990Ile)
c.6005A>T (p.Lys2002Ile)
c.6002A>T (p.Lys2001Ile)
c.5996A>T (p.Lys1999Ile)
c.6029A>T (p.Lys2010Ile)
c.5963A>T (p.Lys1988Ile)
c.5573A>T (p.Lys1858Ile)
c.5717A>T (p.Lys1906Ile)
c.5612A>T (p.Lys1871Ile)
c.2018A>T (p.Lys673Ile)
c.5648A>T (p.Lys1883Ile)
c.6194A>T (p.Lys2065Ile)
n.333+1533T>A
c.5564A>T (p.Lys1855Ile)
c.5009A>T (p.Lys1670Ile)
c.3119A>T (p.Lys1040Ile)
c.6263A>T (p.Lys2088Ile)
c.6767A>T (p.Lys2256Ile)
c.6662A>T (p.Lys2221Ile)
c.6449A>T (p.Lys2150Ile)
c.6392A>T (p.Lys2131Ile)
c.6308A>T (p.Lys2103Ile)
c.6293A>T (p.Lys2098Ile)
c.6197A>T (p.Lys2066Ile)
c.6188A>T (p.Lys2063Ile)
c.6170A>T (p.Lys2057Ile)
c.6164A>T (p.Lys2055Ile)
c.6137A>T (p.Lys2046Ile)
c.6131A>T (p.Lys2044Ile)
c.6113A>T (p.Lys2038Ile)
c.6107A>T (p.Lys2036Ile)
c.6104A>T (p.Lys2035Ile)
c.6080A>T (p.Lys2027Ile)
12g.2688608A=CA2012352043CACNA1C,CACNA1C-AS1c.6021A= (p.Lys2007=)
c.6051A= (p.Lys2017=)
c.6126A= (p.Lys2042=)
c.6159A= (p.Lys2053=)
c.5988A= (p.Lys1996=)
c.6036A= (p.Lys2012=)
c.6285A= (p.Lys2095=)
c.5913A= (p.Lys1971=)
c.5946A= (p.Lys1982=)
c.5937A= (p.Lys1979=)
c.6111A= (p.Lys2037=)
n.2449A=
c.6090A= (p.Lys2030=)
c.6069A= (p.Lys2023=)
c.5970A= (p.Lys1990=)
c.6006A= (p.Lys2002=)
c.6003A= (p.Lys2001=)
c.5997A= (p.Lys1999=)
c.6030A= (p.Lys2010=)
c.5964A= (p.Lys1988=)
c.5574A= (p.Lys1858=)
c.5718A= (p.Lys1906=)
c.5613A= (p.Lys1871=)
c.2019A= (p.Lys673=)
c.5649A= (p.Lys1883=)
c.6195A= (p.Lys2065=)
n.333+1532T=
c.5565A= (p.Lys1855=)
c.5010A= (p.Lys1670=)
c.3120A= (p.Lys1040=)
c.6264A= (p.Lys2088=)
c.6768A= (p.Lys2256=)
c.6663A= (p.Lys2221=)
c.6450A= (p.Lys2150=)
c.6393A= (p.Lys2131=)
c.6309A= (p.Lys2103=)
c.6294A= (p.Lys2098=)
c.6198A= (p.Lys2066=)
c.6189A= (p.Lys2063=)
c.6171A= (p.Lys2057=)
c.6165A= (p.Lys2055=)
c.6138A= (p.Lys2046=)
c.6132A= (p.Lys2044=)
c.6114A= (p.Lys2038=)
c.6108A= (p.Lys2036=)
c.6105A= (p.Lys2035=)
c.6081A= (p.Lys2027=)
12g.2688608A>CCA383384675CACNA1C,CACNA1C-AS1c.6021A>C (p.Lys2007Asn)
c.6051A>C (p.Lys2017Asn)
c.6126A>C (p.Lys2042Asn)
c.6159A>C (p.Lys2053Asn)
c.5988A>C (p.Lys1996Asn)
c.6036A>C (p.Lys2012Asn)
c.6285A>C (p.Lys2095Asn)
c.5913A>C (p.Lys1971Asn)
c.5946A>C (p.Lys1982Asn)
c.5937A>C (p.Lys1979Asn)
c.6111A>C (p.Lys2037Asn)
n.2449A>C
c.6090A>C (p.Lys2030Asn)
c.6069A>C (p.Lys2023Asn)
c.5970A>C (p.Lys1990Asn)
c.6006A>C (p.Lys2002Asn)
c.6003A>C (p.Lys2001Asn)
c.5997A>C (p.Lys1999Asn)
c.6030A>C (p.Lys2010Asn)
c.5964A>C (p.Lys1988Asn)
c.5574A>C (p.Lys1858Asn)
c.5718A>C (p.Lys1906Asn)
c.5613A>C (p.Lys1871Asn)
c.2019A>C (p.Lys673Asn)
c.5649A>C (p.Lys1883Asn)
c.6195A>C (p.Lys2065Asn)
n.333+1532T>G
c.5565A>C (p.Lys1855Asn)
c.5010A>C (p.Lys1670Asn)
c.3120A>C (p.Lys1040Asn)
c.6264A>C (p.Lys2088Asn)
c.6768A>C (p.Lys2256Asn)
c.6663A>C (p.Lys2221Asn)
c.6450A>C (p.Lys2150Asn)
c.6393A>C (p.Lys2131Asn)
c.6309A>C (p.Lys2103Asn)
c.6294A>C (p.Lys2098Asn)
c.6198A>C (p.Lys2066Asn)
c.6189A>C (p.Lys2063Asn)
c.6171A>C (p.Lys2057Asn)
c.6165A>C (p.Lys2055Asn)
c.6138A>C (p.Lys2046Asn)
c.6132A>C (p.Lys2044Asn)
c.6114A>C (p.Lys2038Asn)
c.6108A>C (p.Lys2036Asn)
c.6105A>C (p.Lys2035Asn)
c.6081A>C (p.Lys2027Asn)
 dbSNP
12g.2688608A>GCA478088141CACNA1C,CACNA1C-AS1c.6021A>G (p.Lys2007=)
c.6051A>G (p.Lys2017=)
c.6126A>G (p.Lys2042=)
c.6159A>G (p.Lys2053=)
c.5988A>G (p.Lys1996=)
c.6036A>G (p.Lys2012=)
c.6285A>G (p.Lys2095=)
c.5913A>G (p.Lys1971=)
c.5946A>G (p.Lys1982=)
c.5937A>G (p.Lys1979=)
c.6111A>G (p.Lys2037=)
n.2449A>G
c.6090A>G (p.Lys2030=)
c.6069A>G (p.Lys2023=)
c.5970A>G (p.Lys1990=)
c.6006A>G (p.Lys2002=)
c.6003A>G (p.Lys2001=)
c.5997A>G (p.Lys1999=)
c.6030A>G (p.Lys2010=)
c.5964A>G (p.Lys1988=)
c.5574A>G (p.Lys1858=)
c.5718A>G (p.Lys1906=)
c.5613A>G (p.Lys1871=)
c.2019A>G (p.Lys673=)
c.5649A>G (p.Lys1883=)
c.6195A>G (p.Lys2065=)
n.333+1532T>C
c.5565A>G (p.Lys1855=)
c.5010A>G (p.Lys1670=)
c.3120A>G (p.Lys1040=)
c.6264A>G (p.Lys2088=)
c.6768A>G (p.Lys2256=)
c.6663A>G (p.Lys2221=)
c.6450A>G (p.Lys2150=)
c.6393A>G (p.Lys2131=)
c.6309A>G (p.Lys2103=)
c.6294A>G (p.Lys2098=)
c.6198A>G (p.Lys2066=)
c.6189A>G (p.Lys2063=)
c.6171A>G (p.Lys2057=)
c.6165A>G (p.Lys2055=)
c.6138A>G (p.Lys2046=)
c.6132A>G (p.Lys2044=)
c.6114A>G (p.Lys2038=)
c.6108A>G (p.Lys2036=)
c.6105A>G (p.Lys2035=)
c.6081A>G (p.Lys2027=)
 dbSNP
12g.2688608A>TCA383384677CACNA1C,CACNA1C-AS1c.6021A>T (p.Lys2007Asn)
c.6051A>T (p.Lys2017Asn)
c.6126A>T (p.Lys2042Asn)
c.6159A>T (p.Lys2053Asn)
c.5988A>T (p.Lys1996Asn)
c.6036A>T (p.Lys2012Asn)
c.6285A>T (p.Lys2095Asn)
c.5913A>T (p.Lys1971Asn)
c.5946A>T (p.Lys1982Asn)
c.5937A>T (p.Lys1979Asn)
c.6111A>T (p.Lys2037Asn)
n.2449A>T
c.6090A>T (p.Lys2030Asn)
c.6069A>T (p.Lys2023Asn)
c.5970A>T (p.Lys1990Asn)
c.6006A>T (p.Lys2002Asn)
c.6003A>T (p.Lys2001Asn)
c.5997A>T (p.Lys1999Asn)
c.6030A>T (p.Lys2010Asn)
c.5964A>T (p.Lys1988Asn)
c.5574A>T (p.Lys1858Asn)
c.5718A>T (p.Lys1906Asn)
c.5613A>T (p.Lys1871Asn)
c.2019A>T (p.Lys673Asn)
c.5649A>T (p.Lys1883Asn)
c.6195A>T (p.Lys2065Asn)
n.333+1532T>A
c.5565A>T (p.Lys1855Asn)
c.5010A>T (p.Lys1670Asn)
c.3120A>T (p.Lys1040Asn)
c.6264A>T (p.Lys2088Asn)
c.6768A>T (p.Lys2256Asn)
c.6663A>T (p.Lys2221Asn)
c.6450A>T (p.Lys2150Asn)
c.6393A>T (p.Lys2131Asn)
c.6309A>T (p.Lys2103Asn)
c.6294A>T (p.Lys2098Asn)
c.6198A>T (p.Lys2066Asn)
c.6189A>T (p.Lys2063Asn)
c.6171A>T (p.Lys2057Asn)
c.6165A>T (p.Lys2055Asn)
c.6138A>T (p.Lys2046Asn)
c.6132A>T (p.Lys2044Asn)
c.6114A>T (p.Lys2038Asn)
c.6108A>T (p.Lys2036Asn)
c.6105A>T (p.Lys2035Asn)
c.6081A>T (p.Lys2027Asn)
12g.2688609C>ACA383384680CACNA1C,CACNA1C-AS1c.6022C>A (p.Leu2008Ile)
c.6052C>A (p.Leu2018Ile)
c.6127C>A (p.Leu2043Ile)
c.6160C>A (p.Leu2054Ile)
c.5989C>A (p.Leu1997Ile)
c.6037C>A (p.Leu2013Ile)
c.6286C>A (p.Leu2096Ile)
c.5914C>A (p.Leu1972Ile)
c.5947C>A (p.Leu1983Ile)
c.5938C>A (p.Leu1980Ile)
c.6112C>A (p.Leu2038Ile)
n.2450C>A
c.6091C>A (p.Leu2031Ile)
c.6070C>A (p.Leu2024Ile)
c.5971C>A (p.Leu1991Ile)
c.6007C>A (p.Leu2003Ile)
c.6004C>A (p.Leu2002Ile)
c.5998C>A (p.Leu2000Ile)
c.6031C>A (p.Leu2011Ile)
c.5965C>A (p.Leu1989Ile)
c.5575C>A (p.Leu1859Ile)
c.5719C>A (p.Leu1907Ile)
c.5614C>A (p.Leu1872Ile)
c.2020C>A (p.Leu674Ile)
c.5650C>A (p.Leu1884Ile)
c.6196C>A (p.Leu2066Ile)
n.333+1531G>T
c.5566C>A (p.Leu1856Ile)
c.5011C>A (p.Leu1671Ile)
c.3121C>A (p.Leu1041Ile)
c.6265C>A (p.Leu2089Ile)
c.6769C>A (p.Leu2257Ile)
c.6664C>A (p.Leu2222Ile)
c.6451C>A (p.Leu2151Ile)
c.6394C>A (p.Leu2132Ile)
c.6310C>A (p.Leu2104Ile)
c.6295C>A (p.Leu2099Ile)
c.6199C>A (p.Leu2067Ile)
c.6190C>A (p.Leu2064Ile)
c.6172C>A (p.Leu2058Ile)
c.6166C>A (p.Leu2056Ile)
c.6139C>A (p.Leu2047Ile)
c.6133C>A (p.Leu2045Ile)
c.6115C>A (p.Leu2039Ile)
c.6109C>A (p.Leu2037Ile)
c.6106C>A (p.Leu2036Ile)
c.6082C>A (p.Leu2028Ile)
12g.2688609C>GCA383384681CACNA1C,CACNA1C-AS1c.6022C>G (p.Leu2008Val)
c.6052C>G (p.Leu2018Val)
c.6127C>G (p.Leu2043Val)
c.6160C>G (p.Leu2054Val)
c.5989C>G (p.Leu1997Val)
c.6037C>G (p.Leu2013Val)
c.6286C>G (p.Leu2096Val)
c.5914C>G (p.Leu1972Val)
c.5947C>G (p.Leu1983Val)
c.5938C>G (p.Leu1980Val)
c.6112C>G (p.Leu2038Val)
n.2450C>G
c.6091C>G (p.Leu2031Val)
c.6070C>G (p.Leu2024Val)
c.5971C>G (p.Leu1991Val)
c.6007C>G (p.Leu2003Val)
c.6004C>G (p.Leu2002Val)
c.5998C>G (p.Leu2000Val)
c.6031C>G (p.Leu2011Val)
c.5965C>G (p.Leu1989Val)
c.5575C>G (p.Leu1859Val)
c.5719C>G (p.Leu1907Val)
c.5614C>G (p.Leu1872Val)
c.2020C>G (p.Leu674Val)
c.5650C>G (p.Leu1884Val)
c.6196C>G (p.Leu2066Val)
n.333+1531G>C
c.5566C>G (p.Leu1856Val)
c.5011C>G (p.Leu1671Val)
c.3121C>G (p.Leu1041Val)
c.6265C>G (p.Leu2089Val)
c.6769C>G (p.Leu2257Val)
c.6664C>G (p.Leu2222Val)
c.6451C>G (p.Leu2151Val)
c.6394C>G (p.Leu2132Val)
c.6310C>G (p.Leu2104Val)
c.6295C>G (p.Leu2099Val)
c.6199C>G (p.Leu2067Val)
c.6190C>G (p.Leu2064Val)
c.6172C>G (p.Leu2058Val)
c.6166C>G (p.Leu2056Val)
c.6139C>G (p.Leu2047Val)
c.6133C>G (p.Leu2045Val)
c.6115C>G (p.Leu2039Val)
c.6109C>G (p.Leu2037Val)
c.6106C>G (p.Leu2036Val)
c.6082C>G (p.Leu2028Val)
 ClinVar
12g.2688609C>TCA383384683CACNA1C,CACNA1C-AS1c.6022C>T (p.Leu2008Phe)
c.6052C>T (p.Leu2018Phe)
c.6127C>T (p.Leu2043Phe)
c.6160C>T (p.Leu2054Phe)
c.5989C>T (p.Leu1997Phe)
c.6037C>T (p.Leu2013Phe)
c.6286C>T (p.Leu2096Phe)
c.5914C>T (p.Leu1972Phe)
c.5947C>T (p.Leu1983Phe)
c.5938C>T (p.Leu1980Phe)
c.6112C>T (p.Leu2038Phe)
n.2450C>T
c.6091C>T (p.Leu2031Phe)
c.6070C>T (p.Leu2024Phe)
c.5971C>T (p.Leu1991Phe)
c.6007C>T (p.Leu2003Phe)
c.6004C>T (p.Leu2002Phe)
c.5998C>T (p.Leu2000Phe)
c.6031C>T (p.Leu2011Phe)
c.5965C>T (p.Leu1989Phe)
c.5575C>T (p.Leu1859Phe)
c.5719C>T (p.Leu1907Phe)
c.5614C>T (p.Leu1872Phe)
c.2020C>T (p.Leu674Phe)
c.5650C>T (p.Leu1884Phe)
c.6196C>T (p.Leu2066Phe)
n.333+1531G>A
c.5566C>T (p.Leu1856Phe)
c.5011C>T (p.Leu1671Phe)
c.3121C>T (p.Leu1041Phe)
c.6265C>T (p.Leu2089Phe)
c.6769C>T (p.Leu2257Phe)
c.6664C>T (p.Leu2222Phe)
c.6451C>T (p.Leu2151Phe)
c.6394C>T (p.Leu2132Phe)
c.6310C>T (p.Leu2104Phe)
c.6295C>T (p.Leu2099Phe)
c.6199C>T (p.Leu2067Phe)
c.6190C>T (p.Leu2064Phe)
c.6172C>T (p.Leu2058Phe)
c.6166C>T (p.Leu2056Phe)
c.6139C>T (p.Leu2047Phe)
c.6133C>T (p.Leu2045Phe)
c.6115C>T (p.Leu2039Phe)
c.6109C>T (p.Leu2037Phe)
c.6106C>T (p.Leu2036Phe)
c.6082C>T (p.Leu2028Phe)
12g.2688610T>ACA383384687CACNA1C,CACNA1C-AS1c.6023T>A (p.Leu2008His)
c.6053T>A (p.Leu2018His)
c.6128T>A (p.Leu2043His)
c.6161T>A (p.Leu2054His)
c.5990T>A (p.Leu1997His)
c.6038T>A (p.Leu2013His)
c.6287T>A (p.Leu2096His)
c.5915T>A (p.Leu1972His)
c.5948T>A (p.Leu1983His)
c.5939T>A (p.Leu1980His)
c.6113T>A (p.Leu2038His)
n.2451T>A
c.6092T>A (p.Leu2031His)
c.6071T>A (p.Leu2024His)
c.5972T>A (p.Leu1991His)
c.6008T>A (p.Leu2003His)
c.6005T>A (p.Leu2002His)
c.5999T>A (p.Leu2000His)
c.6032T>A (p.Leu2011His)
c.5966T>A (p.Leu1989His)
c.5576T>A (p.Leu1859His)
c.5720T>A (p.Leu1907His)
c.5615T>A (p.Leu1872His)
c.2021T>A (p.Leu674His)
c.5651T>A (p.Leu1884His)
c.6197T>A (p.Leu2066His)
n.333+1530A>T
c.5567T>A (p.Leu1856His)
c.5012T>A (p.Leu1671His)
c.3122T>A (p.Leu1041His)
c.6266T>A (p.Leu2089His)
c.6770T>A (p.Leu2257His)
c.6665T>A (p.Leu2222His)
c.6452T>A (p.Leu2151His)
c.6395T>A (p.Leu2132His)
c.6311T>A (p.Leu2104His)
c.6296T>A (p.Leu2099His)
c.6200T>A (p.Leu2067His)
c.6191T>A (p.Leu2064His)
c.6173T>A (p.Leu2058His)
c.6167T>A (p.Leu2056His)
c.6140T>A (p.Leu2047His)
c.6134T>A (p.Leu2045His)
c.6116T>A (p.Leu2039His)
c.6110T>A (p.Leu2037His)
c.6107T>A (p.Leu2036His)
c.6083T>A (p.Leu2028His)
12g.2688610T>CCA383384691CACNA1C,CACNA1C-AS1c.6023T>C (p.Leu2008Pro)
c.6053T>C (p.Leu2018Pro)
c.6128T>C (p.Leu2043Pro)
c.6161T>C (p.Leu2054Pro)
c.5990T>C (p.Leu1997Pro)
c.6038T>C (p.Leu2013Pro)
c.6287T>C (p.Leu2096Pro)
c.5915T>C (p.Leu1972Pro)
c.5948T>C (p.Leu1983Pro)
c.5939T>C (p.Leu1980Pro)
c.6113T>C (p.Leu2038Pro)
n.2451T>C
c.6092T>C (p.Leu2031Pro)
c.6071T>C (p.Leu2024Pro)
c.5972T>C (p.Leu1991Pro)
c.6008T>C (p.Leu2003Pro)
c.6005T>C (p.Leu2002Pro)
c.5999T>C (p.Leu2000Pro)
c.6032T>C (p.Leu2011Pro)
c.5966T>C (p.Leu1989Pro)
c.5576T>C (p.Leu1859Pro)
c.5720T>C (p.Leu1907Pro)
c.5615T>C (p.Leu1872Pro)
c.2021T>C (p.Leu674Pro)
c.5651T>C (p.Leu1884Pro)
c.6197T>C (p.Leu2066Pro)
n.333+1530A>G
c.5567T>C (p.Leu1856Pro)
c.5012T>C (p.Leu1671Pro)
c.3122T>C (p.Leu1041Pro)
c.6266T>C (p.Leu2089Pro)
c.6770T>C (p.Leu2257Pro)
c.6665T>C (p.Leu2222Pro)
c.6452T>C (p.Leu2151Pro)
c.6395T>C (p.Leu2132Pro)
c.6311T>C (p.Leu2104Pro)
c.6296T>C (p.Leu2099Pro)
c.6200T>C (p.Leu2067Pro)
c.6191T>C (p.Leu2064Pro)
c.6173T>C (p.Leu2058Pro)
c.6167T>C (p.Leu2056Pro)
c.6140T>C (p.Leu2047Pro)
c.6134T>C (p.Leu2045Pro)
c.6116T>C (p.Leu2039Pro)
c.6110T>C (p.Leu2037Pro)
c.6107T>C (p.Leu2036Pro)
c.6083T>C (p.Leu2028Pro)
12g.2688610T>GCA383384689CACNA1C,CACNA1C-AS1c.6023T>G (p.Leu2008Arg)
c.6053T>G (p.Leu2018Arg)
c.6128T>G (p.Leu2043Arg)
c.6161T>G (p.Leu2054Arg)
c.5990T>G (p.Leu1997Arg)
c.6038T>G (p.Leu2013Arg)
c.6287T>G (p.Leu2096Arg)
c.5915T>G (p.Leu1972Arg)
c.5948T>G (p.Leu1983Arg)
c.5939T>G (p.Leu1980Arg)
c.6113T>G (p.Leu2038Arg)
n.2451T>G
c.6092T>G (p.Leu2031Arg)
c.6071T>G (p.Leu2024Arg)
c.5972T>G (p.Leu1991Arg)
c.6008T>G (p.Leu2003Arg)
c.6005T>G (p.Leu2002Arg)
c.5999T>G (p.Leu2000Arg)
c.6032T>G (p.Leu2011Arg)
c.5966T>G (p.Leu1989Arg)
c.5576T>G (p.Leu1859Arg)
c.5720T>G (p.Leu1907Arg)
c.5615T>G (p.Leu1872Arg)
c.2021T>G (p.Leu674Arg)
c.5651T>G (p.Leu1884Arg)
c.6197T>G (p.Leu2066Arg)
n.333+1530A>C
c.5567T>G (p.Leu1856Arg)
c.5012T>G (p.Leu1671Arg)
c.3122T>G (p.Leu1041Arg)
c.6266T>G (p.Leu2089Arg)
c.6770T>G (p.Leu2257Arg)
c.6665T>G (p.Leu2222Arg)
c.6452T>G (p.Leu2151Arg)
c.6395T>G (p.Leu2132Arg)
c.6311T>G (p.Leu2104Arg)
c.6296T>G (p.Leu2099Arg)
c.6200T>G (p.Leu2067Arg)
c.6191T>G (p.Leu2064Arg)
c.6173T>G (p.Leu2058Arg)
c.6167T>G (p.Leu2056Arg)
c.6140T>G (p.Leu2047Arg)
c.6134T>G (p.Leu2045Arg)
c.6116T>G (p.Leu2039Arg)
c.6110T>G (p.Leu2037Arg)
c.6107T>G (p.Leu2036Arg)
c.6083T>G (p.Leu2028Arg)
12g.2688610_2688613delinsTCAACA2012352044CACNA1C,CACNA1C-AS1c.6023_6026delinsTCAA (p.Leu2008=)
c.6053_6056delinsTCAA (p.Leu2018=)
c.6128_6131delinsTCAA (p.Leu2043=)
c.6161_6164delinsTCAA (p.Leu2054=)
c.5990_5993delinsTCAA (p.Leu1997=)
c.6038_6041delinsTCAA (p.Leu2013=)
c.6287_6290delinsTCAA (p.Leu2096=)
c.5915_5918delinsTCAA (p.Leu1972=)
c.5948_5951delinsTCAA (p.Leu1983=)
c.5939_5942delinsTCAA (p.Leu1980=)
c.6113_6116delinsTCAA (p.Leu2038=)
n.2451_2454delinsTCAA
c.6092_6095delinsTCAA (p.Leu2031=)
c.6071_6074delinsTCAA (p.Leu2024=)
c.5972_5975delinsTCAA (p.Leu1991=)
c.6008_6011delinsTCAA (p.Leu2003=)
c.6005_6008delinsTCAA (p.Leu2002=)
c.5999_6002delinsTCAA (p.Leu2000=)
c.6032_6035delinsTCAA (p.Leu2011=)
c.5966_5969delinsTCAA (p.Leu1989=)
c.5576_5579delinsTCAA (p.Leu1859=)
c.5720_5723delinsTCAA (p.Leu1907=)
c.5615_5618delinsTCAA (p.Leu1872=)
c.2021_2024delinsTCAA (p.Leu674=)
c.5651_5654delinsTCAA (p.Leu1884=)
c.6197_6200delinsTCAA (p.Leu2066=)
n.333+1527_333+1530delinsTTGA
c.5567_5570delinsTCAA (p.Leu1856=)
c.5012_5015delinsTCAA (p.Leu1671=)
c.3122_3125delinsTCAA (p.Leu1041=)
c.6266_6269delinsTCAA (p.Leu2089=)
c.6770_6773delinsTCAA (p.Leu2257=)
c.6665_6668delinsTCAA (p.Leu2222=)
c.6452_6455delinsTCAA (p.Leu2151=)
c.6395_6398delinsTCAA (p.Leu2132=)
c.6311_6314delinsTCAA (p.Leu2104=)
c.6296_6299delinsTCAA (p.Leu2099=)
c.6200_6203delinsTCAA (p.Leu2067=)
c.6191_6194delinsTCAA (p.Leu2064=)
c.6173_6176delinsTCAA (p.Leu2058=)
c.6167_6170delinsTCAA (p.Leu2056=)
c.6140_6143delinsTCAA (p.Leu2047=)
c.6134_6137delinsTCAA (p.Leu2045=)
c.6116_6119delinsTCAA (p.Leu2039=)
c.6110_6113delinsTCAA (p.Leu2037=)
c.6107_6110delinsTCAA (p.Leu2036=)
c.6083_6086delinsTCAA (p.Leu2028=)
12g.2688611delCA2725613151CACNA1C,CACNA1C-AS1c.6024del (p.Asn2009ThrfsTer?)
c.6054del (p.Asn2019ThrfsTer?)
c.6129del (p.Asn2044ThrfsTer?)
c.6162del (p.Asn2055ThrfsTer?)
c.5991del (p.Asn1998ThrfsTer?)
c.6039del (p.Asn2014ThrfsTer?)
c.6288del (p.Asn2097ThrfsTer?)
c.5916del (p.Asn1973ThrfsTer?)
c.5949del (p.Asn1984ThrfsTer?)
c.5940del (p.Asn1981ThrfsTer?)
c.6114del (p.Asn2039ThrfsTer?)
n.2452del
c.6093del (p.Asn2032ThrfsTer?)
c.6072del (p.Asn2025ThrfsTer?)
c.5973del (p.Asn1992ThrfsTer?)
c.6009del (p.Asn2004ThrfsTer?)
c.6006del (p.Asn2003ThrfsTer?)
c.6000del (p.Asn2001ThrfsTer?)
c.6033del (p.Asn2012ThrfsTer?)
c.5967del (p.Asn1990ThrfsTer?)
c.5577del (p.Asn1860ThrfsTer?)
c.5721del (p.Asn1908ThrfsTer?)
c.5616del (p.Asn1873ThrfsTer?)
c.2022del (p.Asn675ThrfsTer?)
c.5652del (p.Asn1885ThrfsTer?)
c.6198del (p.Asn2067ThrfsTer?)
n.333+1529del
c.5568del (p.Asn1857ThrfsTer?)
c.5013del (p.Asn1672ThrfsTer?)
c.3123del (p.Asn1042ThrfsTer?)
c.6267del (p.Asn2090ThrfsTer?)
c.6771del (p.Asn2258ThrfsTer?)
c.6666del (p.Asn2223ThrfsTer?)
c.6453del (p.Asn2152ThrfsTer?)
c.6396del (p.Asn2133ThrfsTer?)
c.6312del (p.Asn2105ThrfsTer?)
c.6297del (p.Asn2100ThrfsTer?)
c.6201del (p.Asn2068ThrfsTer?)
c.6192del (p.Asn2065ThrfsTer?)
c.6174del (p.Asn2059ThrfsTer?)
c.6168del (p.Asn2057ThrfsTer?)
c.6141del (p.Asn2048ThrfsTer?)
c.6135del (p.Asn2046ThrfsTer?)
c.6117del (p.Asn2040ThrfsTer?)
c.6111del (p.Asn2038ThrfsTer?)
c.6108del (p.Asn2037ThrfsTer?)
c.6084del (p.Asn2029ThrfsTer?)
 dbSNP
12g.2688611C>ACA478088145CACNA1C,CACNA1C-AS1c.6024C>A (p.Leu2008=)
c.6054C>A (p.Leu2018=)
c.6129C>A (p.Leu2043=)
c.6162C>A (p.Leu2054=)
c.5991C>A (p.Leu1997=)
c.6039C>A (p.Leu2013=)
c.6288C>A (p.Leu2096=)
c.5916C>A (p.Leu1972=)
c.5949C>A (p.Leu1983=)
c.5940C>A (p.Leu1980=)
c.6114C>A (p.Leu2038=)
n.2452C>A
c.6093C>A (p.Leu2031=)
c.6072C>A (p.Leu2024=)
c.5973C>A (p.Leu1991=)
c.6009C>A (p.Leu2003=)
c.6006C>A (p.Leu2002=)
c.6000C>A (p.Leu2000=)
c.6033C>A (p.Leu2011=)
c.5967C>A (p.Leu1989=)
c.5577C>A (p.Leu1859=)
c.5721C>A (p.Leu1907=)
c.5616C>A (p.Leu1872=)
c.2022C>A (p.Leu674=)
c.5652C>A (p.Leu1884=)
c.6198C>A (p.Leu2066=)
n.333+1529G>T
c.5568C>A (p.Leu1856=)
c.5013C>A (p.Leu1671=)
c.3123C>A (p.Leu1041=)
c.6267C>A (p.Leu2089=)
c.6771C>A (p.Leu2257=)
c.6666C>A (p.Leu2222=)
c.6453C>A (p.Leu2151=)
c.6396C>A (p.Leu2132=)
c.6312C>A (p.Leu2104=)
c.6297C>A (p.Leu2099=)
c.6201C>A (p.Leu2067=)
c.6192C>A (p.Leu2064=)
c.6174C>A (p.Leu2058=)
c.6168C>A (p.Leu2056=)
c.6141C>A (p.Leu2047=)
c.6135C>A (p.Leu2045=)
c.6117C>A (p.Leu2039=)
c.6111C>A (p.Leu2037=)
c.6108C>A (p.Leu2036=)
c.6084C>A (p.Leu2028=)
12g.2688611C=CA2012352045CACNA1C,CACNA1C-AS1c.6024C= (p.Leu2008=)
c.6054C= (p.Leu2018=)
c.6129C= (p.Leu2043=)
c.6162C= (p.Leu2054=)
c.5991C= (p.Leu1997=)
c.6039C= (p.Leu2013=)
c.6288C= (p.Leu2096=)
c.5916C= (p.Leu1972=)
c.5949C= (p.Leu1983=)
c.5940C= (p.Leu1980=)
c.6114C= (p.Leu2038=)
n.2452C=
c.6093C= (p.Leu2031=)
c.6072C= (p.Leu2024=)
c.5973C= (p.Leu1991=)
c.6009C= (p.Leu2003=)
c.6006C= (p.Leu2002=)
c.6000C= (p.Leu2000=)
c.6033C= (p.Leu2011=)
c.5967C= (p.Leu1989=)
c.5577C= (p.Leu1859=)
c.5721C= (p.Leu1907=)
c.5616C= (p.Leu1872=)
c.2022C= (p.Leu674=)
c.5652C= (p.Leu1884=)
c.6198C= (p.Leu2066=)
n.333+1529G=
c.5568C= (p.Leu1856=)
c.5013C= (p.Leu1671=)
c.3123C= (p.Leu1041=)
c.6267C= (p.Leu2089=)
c.6771C= (p.Leu2257=)
c.6666C= (p.Leu2222=)
c.6453C= (p.Leu2151=)
c.6396C= (p.Leu2132=)
c.6312C= (p.Leu2104=)
c.6297C= (p.Leu2099=)
c.6201C= (p.Leu2067=)
c.6192C= (p.Leu2064=)
c.6174C= (p.Leu2058=)
c.6168C= (p.Leu2056=)
c.6141C= (p.Leu2047=)
c.6135C= (p.Leu2045=)
c.6117C= (p.Leu2039=)
c.6111C= (p.Leu2037=)
c.6108C= (p.Leu2036=)
c.6084C= (p.Leu2028=)
12g.2688611C>GCA478088146CACNA1C,CACNA1C-AS1c.6024C>G (p.Leu2008=)
c.6054C>G (p.Leu2018=)
c.6129C>G (p.Leu2043=)
c.6162C>G (p.Leu2054=)
c.5991C>G (p.Leu1997=)
c.6039C>G (p.Leu2013=)
c.6288C>G (p.Leu2096=)
c.5916C>G (p.Leu1972=)
c.5949C>G (p.Leu1983=)
c.5940C>G (p.Leu1980=)
c.6114C>G (p.Leu2038=)
n.2452C>G
c.6093C>G (p.Leu2031=)
c.6072C>G (p.Leu2024=)
c.5973C>G (p.Leu1991=)
c.6009C>G (p.Leu2003=)
c.6006C>G (p.Leu2002=)
c.6000C>G (p.Leu2000=)
c.6033C>G (p.Leu2011=)
c.5967C>G (p.Leu1989=)
c.5577C>G (p.Leu1859=)
c.5721C>G (p.Leu1907=)
c.5616C>G (p.Leu1872=)
c.2022C>G (p.Leu674=)
c.5652C>G (p.Leu1884=)
c.6198C>G (p.Leu2066=)
n.333+1529G>C
c.5568C>G (p.Leu1856=)
c.5013C>G (p.Leu1671=)
c.3123C>G (p.Leu1041=)
c.6267C>G (p.Leu2089=)
c.6771C>G (p.Leu2257=)
c.6666C>G (p.Leu2222=)
c.6453C>G (p.Leu2151=)
c.6396C>G (p.Leu2132=)
c.6312C>G (p.Leu2104=)
c.6297C>G (p.Leu2099=)
c.6201C>G (p.Leu2067=)
c.6192C>G (p.Leu2064=)
c.6174C>G (p.Leu2058=)
c.6168C>G (p.Leu2056=)
c.6141C>G (p.Leu2047=)
c.6135C>G (p.Leu2045=)
c.6117C>G (p.Leu2039=)
c.6111C>G (p.Leu2037=)
c.6108C>G (p.Leu2036=)
c.6084C>G (p.Leu2028=)
12g.2688611C>TCA478088147CACNA1C,CACNA1C-AS1c.6024C>T (p.Leu2008=)
c.6054C>T (p.Leu2018=)
c.6129C>T (p.Leu2043=)
c.6162C>T (p.Leu2054=)
c.5991C>T (p.Leu1997=)
c.6039C>T (p.Leu2013=)
c.6288C>T (p.Leu2096=)
c.5916C>T (p.Leu1972=)
c.5949C>T (p.Leu1983=)
c.5940C>T (p.Leu1980=)
c.6114C>T (p.Leu2038=)
n.2452C>T
c.6093C>T (p.Leu2031=)
c.6072C>T (p.Leu2024=)
c.5973C>T (p.Leu1991=)
c.6009C>T (p.Leu2003=)
c.6006C>T (p.Leu2002=)
c.6000C>T (p.Leu2000=)
c.6033C>T (p.Leu2011=)
c.5967C>T (p.Leu1989=)
c.5577C>T (p.Leu1859=)
c.5721C>T (p.Leu1907=)
c.5616C>T (p.Leu1872=)
c.2022C>T (p.Leu674=)
c.5652C>T (p.Leu1884=)
c.6198C>T (p.Leu2066=)
n.333+1529G>A
c.5568C>T (p.Leu1856=)
c.5013C>T (p.Leu1671=)
c.3123C>T (p.Leu1041=)
c.6267C>T (p.Leu2089=)
c.6771C>T (p.Leu2257=)
c.6666C>T (p.Leu2222=)
c.6453C>T (p.Leu2151=)
c.6396C>T (p.Leu2132=)
c.6312C>T (p.Leu2104=)
c.6297C>T (p.Leu2099=)
c.6201C>T (p.Leu2067=)
c.6192C>T (p.Leu2064=)
c.6174C>T (p.Leu2058=)
c.6168C>T (p.Leu2056=)
c.6141C>T (p.Leu2047=)
c.6135C>T (p.Leu2045=)
c.6117C>T (p.Leu2039=)
c.6111C>T (p.Leu2037=)
c.6108C>T (p.Leu2036=)
c.6084C>T (p.Leu2028=)
 ClinVar dbSNP gnomAD v4
12g.2688613_2688615delCA686846115CACNA1C,CACNA1C-AS1c.6026_6028del (p.Asn2009del)
c.6056_6058del (p.Asn2019del)
c.6131_6133del (p.Asn2044del)
c.6164_6166del (p.Asn2055del)
c.5993_5995del (p.Asn1998del)
c.6041_6043del (p.Asn2014del)
c.6290_6292del (p.Asn2097del)
c.5918_5920del (p.Asn1973del)
c.5951_5953del (p.Asn1984del)
c.5942_5944del (p.Asn1981del)
c.6116_6118del (p.Asn2039del)
n.2454_2456del
c.6095_6097del (p.Asn2032del)
c.6074_6076del (p.Asn2025del)
c.5975_5977del (p.Asn1992del)
c.6011_6013del (p.Asn2004del)
c.6008_6010del (p.Asn2003del)
c.6002_6004del (p.Asn2001del)
c.6035_6037del (p.Asn2012del)
c.5969_5971del (p.Asn1990del)
c.5579_5581del (p.Asn1860del)
c.5723_5725del (p.Asn1908del)
c.5618_5620del (p.Asn1873del)
c.2024_2026del (p.Asn675del)
c.5654_5656del (p.Asn1885del)
c.6200_6202del (p.Asn2067del)
n.333+1527_333+1529del
c.5570_5572del (p.Asn1857del)
c.5015_5017del (p.Asn1672del)
c.3125_3127del (p.Asn1042del)
c.6269_6271del (p.Asn2090del)
c.6773_6775del (p.Asn2258del)
c.6668_6670del (p.Asn2223del)
c.6455_6457del (p.Asn2152del)
c.6398_6400del (p.Asn2133del)
c.6314_6316del (p.Asn2105del)
c.6299_6301del (p.Asn2100del)
c.6203_6205del (p.Asn2068del)
c.6194_6196del (p.Asn2065del)
c.6176_6178del (p.Asn2059del)
c.6170_6172del (p.Asn2057del)
c.6143_6145del (p.Asn2048del)
c.6137_6139del (p.Asn2046del)
c.6119_6121del (p.Asn2040del)
c.6113_6115del (p.Asn2038del)
c.6110_6112del (p.Asn2037del)
c.6086_6088del (p.Asn2029del)
 dbSNP gnomAD v3 gnomAD v4
12g.2688612A>CCA383384694CACNA1C,CACNA1C-AS1c.6025A>C (p.Asn2009His)
c.6055A>C (p.Asn2019His)
c.6130A>C (p.Asn2044His)
c.6163A>C (p.Asn2055His)
c.5992A>C (p.Asn1998His)
c.6040A>C (p.Asn2014His)
c.6289A>C (p.Asn2097His)
c.5917A>C (p.Asn1973His)
c.5950A>C (p.Asn1984His)
c.5941A>C (p.Asn1981His)
c.6115A>C (p.Asn2039His)
n.2453A>C
c.6094A>C (p.Asn2032His)
c.6073A>C (p.Asn2025His)
c.5974A>C (p.Asn1992His)
c.6010A>C (p.Asn2004His)
c.6007A>C (p.Asn2003His)
c.6001A>C (p.Asn2001His)
c.6034A>C (p.Asn2012His)
c.5968A>C (p.Asn1990His)
c.5578A>C (p.Asn1860His)
c.5722A>C (p.Asn1908His)
c.5617A>C (p.Asn1873His)
c.2023A>C (p.Asn675His)
c.5653A>C (p.Asn1885His)
c.6199A>C (p.Asn2067His)
n.333+1528T>G
c.5569A>C (p.Asn1857His)
c.5014A>C (p.Asn1672His)
c.3124A>C (p.Asn1042His)
c.6268A>C (p.Asn2090His)
c.6772A>C (p.Asn2258His)
c.6667A>C (p.Asn2223His)
c.6454A>C (p.Asn2152His)
c.6397A>C (p.Asn2133His)
c.6313A>C (p.Asn2105His)
c.6298A>C (p.Asn2100His)
c.6202A>C (p.Asn2068His)
c.6193A>C (p.Asn2065His)
c.6175A>C (p.Asn2059His)
c.6169A>C (p.Asn2057His)
c.6142A>C (p.Asn2048His)
c.6136A>C (p.Asn2046His)
c.6118A>C (p.Asn2040His)
c.6112A>C (p.Asn2038His)
c.6109A>C (p.Asn2037His)
c.6085A>C (p.Asn2029His)
12g.2688612A>GCA383384696CACNA1C,CACNA1C-AS1c.6025A>G (p.Asn2009Asp)
c.6055A>G (p.Asn2019Asp)
c.6130A>G (p.Asn2044Asp)
c.6163A>G (p.Asn2055Asp)
c.5992A>G (p.Asn1998Asp)
c.6040A>G (p.Asn2014Asp)
c.6289A>G (p.Asn2097Asp)
c.5917A>G (p.Asn1973Asp)
c.5950A>G (p.Asn1984Asp)
c.5941A>G (p.Asn1981Asp)
c.6115A>G (p.Asn2039Asp)
n.2453A>G
c.6094A>G (p.Asn2032Asp)
c.6073A>G (p.Asn2025Asp)
c.5974A>G (p.Asn1992Asp)
c.6010A>G (p.Asn2004Asp)
c.6007A>G (p.Asn2003Asp)
c.6001A>G (p.Asn2001Asp)
c.6034A>G (p.Asn2012Asp)
c.5968A>G (p.Asn1990Asp)
c.5578A>G (p.Asn1860Asp)
c.5722A>G (p.Asn1908Asp)
c.5617A>G (p.Asn1873Asp)
c.2023A>G (p.Asn675Asp)
c.5653A>G (p.Asn1885Asp)
c.6199A>G (p.Asn2067Asp)
n.333+1528T>C
c.5569A>G (p.Asn1857Asp)
c.5014A>G (p.Asn1672Asp)
c.3124A>G (p.Asn1042Asp)
c.6268A>G (p.Asn2090Asp)
c.6772A>G (p.Asn2258Asp)
c.6667A>G (p.Asn2223Asp)
c.6454A>G (p.Asn2152Asp)
c.6397A>G (p.Asn2133Asp)
c.6313A>G (p.Asn2105Asp)
c.6298A>G (p.Asn2100Asp)
c.6202A>G (p.Asn2068Asp)
c.6193A>G (p.Asn2065Asp)
c.6175A>G (p.Asn2059Asp)
c.6169A>G (p.Asn2057Asp)
c.6142A>G (p.Asn2048Asp)
c.6136A>G (p.Asn2046Asp)
c.6118A>G (p.Asn2040Asp)
c.6112A>G (p.Asn2038Asp)
c.6109A>G (p.Asn2037Asp)
c.6085A>G (p.Asn2029Asp)
12g.2688612A>TCA383384697CACNA1C,CACNA1C-AS1c.6025A>T (p.Asn2009Tyr)
c.6055A>T (p.Asn2019Tyr)
c.6130A>T (p.Asn2044Tyr)
c.6163A>T (p.Asn2055Tyr)
c.5992A>T (p.Asn1998Tyr)
c.6040A>T (p.Asn2014Tyr)
c.6289A>T (p.Asn2097Tyr)
c.5917A>T (p.Asn1973Tyr)
c.5950A>T (p.Asn1984Tyr)
c.5941A>T (p.Asn1981Tyr)
c.6115A>T (p.Asn2039Tyr)
n.2453A>T
c.6094A>T (p.Asn2032Tyr)
c.6073A>T (p.Asn2025Tyr)
c.5974A>T (p.Asn1992Tyr)
c.6010A>T (p.Asn2004Tyr)
c.6007A>T (p.Asn2003Tyr)
c.6001A>T (p.Asn2001Tyr)
c.6034A>T (p.Asn2012Tyr)
c.5968A>T (p.Asn1990Tyr)
c.5578A>T (p.Asn1860Tyr)
c.5722A>T (p.Asn1908Tyr)
c.5617A>T (p.Asn1873Tyr)
c.2023A>T (p.Asn675Tyr)
c.5653A>T (p.Asn1885Tyr)
c.6199A>T (p.Asn2067Tyr)
n.333+1528T>A
c.5569A>T (p.Asn1857Tyr)
c.5014A>T (p.Asn1672Tyr)
c.3124A>T (p.Asn1042Tyr)
c.6268A>T (p.Asn2090Tyr)
c.6772A>T (p.Asn2258Tyr)
c.6667A>T (p.Asn2223Tyr)
c.6454A>T (p.Asn2152Tyr)
c.6397A>T (p.Asn2133Tyr)
c.6313A>T (p.Asn2105Tyr)
c.6298A>T (p.Asn2100Tyr)
c.6202A>T (p.Asn2068Tyr)
c.6193A>T (p.Asn2065Tyr)
c.6175A>T (p.Asn2059Tyr)
c.6169A>T (p.Asn2057Tyr)
c.6142A>T (p.Asn2048Tyr)
c.6136A>T (p.Asn2046Tyr)
c.6118A>T (p.Asn2040Tyr)
c.6112A>T (p.Asn2038Tyr)
c.6109A>T (p.Asn2037Tyr)
c.6085A>T (p.Asn2029Tyr)
12g.2688613A>CCA383384698CACNA1C,CACNA1C-AS1c.6026A>C (p.Asn2009Thr)
c.6056A>C (p.Asn2019Thr)
c.6131A>C (p.Asn2044Thr)
c.6164A>C (p.Asn2055Thr)
c.5993A>C (p.Asn1998Thr)
c.6041A>C (p.Asn2014Thr)
c.6290A>C (p.Asn2097Thr)
c.5918A>C (p.Asn1973Thr)
c.5951A>C (p.Asn1984Thr)
c.5942A>C (p.Asn1981Thr)
c.6116A>C (p.Asn2039Thr)
n.2454A>C
c.6095A>C (p.Asn2032Thr)
c.6074A>C (p.Asn2025Thr)
c.5975A>C (p.Asn1992Thr)
c.6011A>C (p.Asn2004Thr)
c.6008A>C (p.Asn2003Thr)
c.6002A>C (p.Asn2001Thr)
c.6035A>C (p.Asn2012Thr)
c.5969A>C (p.Asn1990Thr)
c.5579A>C (p.Asn1860Thr)
c.5723A>C (p.Asn1908Thr)
c.5618A>C (p.Asn1873Thr)
c.2024A>C (p.Asn675Thr)
c.5654A>C (p.Asn1885Thr)
c.6200A>C (p.Asn2067Thr)
n.333+1527T>G
c.5570A>C (p.Asn1857Thr)
c.5015A>C (p.Asn1672Thr)
c.3125A>C (p.Asn1042Thr)
c.6269A>C (p.Asn2090Thr)
c.6773A>C (p.Asn2258Thr)
c.6668A>C (p.Asn2223Thr)
c.6455A>C (p.Asn2152Thr)
c.6398A>C (p.Asn2133Thr)
c.6314A>C (p.Asn2105Thr)
c.6299A>C (p.Asn2100Thr)
c.6203A>C (p.Asn2068Thr)
c.6194A>C (p.Asn2065Thr)
c.6176A>C (p.Asn2059Thr)
c.6170A>C (p.Asn2057Thr)
c.6143A>C (p.Asn2048Thr)
c.6137A>C (p.Asn2046Thr)
c.6119A>C (p.Asn2040Thr)
c.6113A>C (p.Asn2038Thr)
c.6110A>C (p.Asn2037Thr)
c.6086A>C (p.Asn2029Thr)
12g.2688613A>GCA383384699CACNA1C,CACNA1C-AS1c.6026A>G (p.Asn2009Ser)
c.6056A>G (p.Asn2019Ser)
c.6131A>G (p.Asn2044Ser)
c.6164A>G (p.Asn2055Ser)
c.5993A>G (p.Asn1998Ser)
c.6041A>G (p.Asn2014Ser)
c.6290A>G (p.Asn2097Ser)
c.5918A>G (p.Asn1973Ser)
c.5951A>G (p.Asn1984Ser)
c.5942A>G (p.Asn1981Ser)
c.6116A>G (p.Asn2039Ser)
n.2454A>G
c.6095A>G (p.Asn2032Ser)
c.6074A>G (p.Asn2025Ser)
c.5975A>G (p.Asn1992Ser)
c.6011A>G (p.Asn2004Ser)
c.6008A>G (p.Asn2003Ser)
c.6002A>G (p.Asn2001Ser)
c.6035A>G (p.Asn2012Ser)
c.5969A>G (p.Asn1990Ser)
c.5579A>G (p.Asn1860Ser)
c.5723A>G (p.Asn1908Ser)
c.5618A>G (p.Asn1873Ser)
c.2024A>G (p.Asn675Ser)
c.5654A>G (p.Asn1885Ser)
c.6200A>G (p.Asn2067Ser)
n.333+1527T>C
c.5570A>G (p.Asn1857Ser)
c.5015A>G (p.Asn1672Ser)
c.3125A>G (p.Asn1042Ser)
c.6269A>G (p.Asn2090Ser)
c.6773A>G (p.Asn2258Ser)
c.6668A>G (p.Asn2223Ser)
c.6455A>G (p.Asn2152Ser)
c.6398A>G (p.Asn2133Ser)
c.6314A>G (p.Asn2105Ser)
c.6299A>G (p.Asn2100Ser)
c.6203A>G (p.Asn2068Ser)
c.6194A>G (p.Asn2065Ser)
c.6176A>G (p.Asn2059Ser)
c.6170A>G (p.Asn2057Ser)
c.6143A>G (p.Asn2048Ser)
c.6137A>G (p.Asn2046Ser)
c.6119A>G (p.Asn2040Ser)
c.6113A>G (p.Asn2038Ser)
c.6110A>G (p.Asn2037Ser)
c.6086A>G (p.Asn2029Ser)
12g.2688613A>TCA383384700CACNA1C,CACNA1C-AS1c.6026A>T (p.Asn2009Ile)
c.6056A>T (p.Asn2019Ile)
c.6131A>T (p.Asn2044Ile)
c.6164A>T (p.Asn2055Ile)
c.5993A>T (p.Asn1998Ile)
c.6041A>T (p.Asn2014Ile)
c.6290A>T (p.Asn2097Ile)
c.5918A>T (p.Asn1973Ile)
c.5951A>T (p.Asn1984Ile)
c.5942A>T (p.Asn1981Ile)
c.6116A>T (p.Asn2039Ile)
n.2454A>T
c.6095A>T (p.Asn2032Ile)
c.6074A>T (p.Asn2025Ile)
c.5975A>T (p.Asn1992Ile)
c.6011A>T (p.Asn2004Ile)
c.6008A>T (p.Asn2003Ile)
c.6002A>T (p.Asn2001Ile)
c.6035A>T (p.Asn2012Ile)
c.5969A>T (p.Asn1990Ile)
c.5579A>T (p.Asn1860Ile)
c.5723A>T (p.Asn1908Ile)
c.5618A>T (p.Asn1873Ile)
c.2024A>T (p.Asn675Ile)
c.5654A>T (p.Asn1885Ile)
c.6200A>T (p.Asn2067Ile)
n.333+1527T>A
c.5570A>T (p.Asn1857Ile)
c.5015A>T (p.Asn1672Ile)
c.3125A>T (p.Asn1042Ile)
c.6269A>T (p.Asn2090Ile)
c.6773A>T (p.Asn2258Ile)
c.6668A>T (p.Asn2223Ile)
c.6455A>T (p.Asn2152Ile)
c.6398A>T (p.Asn2133Ile)
c.6314A>T (p.Asn2105Ile)
c.6299A>T (p.Asn2100Ile)
c.6203A>T (p.Asn2068Ile)
c.6194A>T (p.Asn2065Ile)
c.6176A>T (p.Asn2059Ile)
c.6170A>T (p.Asn2057Ile)
c.6143A>T (p.Asn2048Ile)
c.6137A>T (p.Asn2046Ile)
c.6119A>T (p.Asn2040Ile)
c.6113A>T (p.Asn2038Ile)
c.6110A>T (p.Asn2037Ile)
c.6086A>T (p.Asn2029Ile)
12g.2688614C>ACA383384703CACNA1C,CACNA1C-AS1c.6027C>A (p.Asn2009Lys)
c.6057C>A (p.Asn2019Lys)
c.6132C>A (p.Asn2044Lys)
c.6165C>A (p.Asn2055Lys)
c.5994C>A (p.Asn1998Lys)
c.6042C>A (p.Asn2014Lys)
c.6291C>A (p.Asn2097Lys)
c.5919C>A (p.Asn1973Lys)
c.5952C>A (p.Asn1984Lys)
c.5943C>A (p.Asn1981Lys)
c.6117C>A (p.Asn2039Lys)
n.2455C>A
c.6096C>A (p.Asn2032Lys)
c.6075C>A (p.Asn2025Lys)
c.5976C>A (p.Asn1992Lys)
c.6012C>A (p.Asn2004Lys)
c.6009C>A (p.Asn2003Lys)
c.6003C>A (p.Asn2001Lys)
c.6036C>A (p.Asn2012Lys)
c.5970C>A (p.Asn1990Lys)
c.5580C>A (p.Asn1860Lys)
c.5724C>A (p.Asn1908Lys)
c.5619C>A (p.Asn1873Lys)
c.2025C>A (p.Asn675Lys)
c.5655C>A (p.Asn1885Lys)
c.6201C>A (p.Asn2067Lys)
n.333+1526G>T
c.5571C>A (p.Asn1857Lys)
c.5016C>A (p.Asn1672Lys)
c.3126C>A (p.Asn1042Lys)
c.6270C>A (p.Asn2090Lys)
c.6774C>A (p.Asn2258Lys)
c.6669C>A (p.Asn2223Lys)
c.6456C>A (p.Asn2152Lys)
c.6399C>A (p.Asn2133Lys)
c.6315C>A (p.Asn2105Lys)
c.6300C>A (p.Asn2100Lys)
c.6204C>A (p.Asn2068Lys)
c.6195C>A (p.Asn2065Lys)
c.6177C>A (p.Asn2059Lys)
c.6171C>A (p.Asn2057Lys)
c.6144C>A (p.Asn2048Lys)
c.6138C>A (p.Asn2046Lys)
c.6120C>A (p.Asn2040Lys)
c.6114C>A (p.Asn2038Lys)
c.6111C>A (p.Asn2037Lys)
c.6087C>A (p.Asn2029Lys)
12g.2688614C>GCA383384708CACNA1C,CACNA1C-AS1c.6027C>G (p.Asn2009Lys)
c.6057C>G (p.Asn2019Lys)
c.6132C>G (p.Asn2044Lys)
c.6165C>G (p.Asn2055Lys)
c.5994C>G (p.Asn1998Lys)
c.6042C>G (p.Asn2014Lys)
c.6291C>G (p.Asn2097Lys)
c.5919C>G (p.Asn1973Lys)
c.5952C>G (p.Asn1984Lys)
c.5943C>G (p.Asn1981Lys)
c.6117C>G (p.Asn2039Lys)
n.2455C>G
c.6096C>G (p.Asn2032Lys)
c.6075C>G (p.Asn2025Lys)
c.5976C>G (p.Asn1992Lys)
c.6012C>G (p.Asn2004Lys)
c.6009C>G (p.Asn2003Lys)
c.6003C>G (p.Asn2001Lys)
c.6036C>G (p.Asn2012Lys)
c.5970C>G (p.Asn1990Lys)
c.5580C>G (p.Asn1860Lys)
c.5724C>G (p.Asn1908Lys)
c.5619C>G (p.Asn1873Lys)
c.2025C>G (p.Asn675Lys)
c.5655C>G (p.Asn1885Lys)
c.6201C>G (p.Asn2067Lys)
n.333+1526G>C
c.5571C>G (p.Asn1857Lys)
c.5016C>G (p.Asn1672Lys)
c.3126C>G (p.Asn1042Lys)
c.6270C>G (p.Asn2090Lys)
c.6774C>G (p.Asn2258Lys)
c.6669C>G (p.Asn2223Lys)
c.6456C>G (p.Asn2152Lys)
c.6399C>G (p.Asn2133Lys)
c.6315C>G (p.Asn2105Lys)
c.6300C>G (p.Asn2100Lys)
c.6204C>G (p.Asn2068Lys)
c.6195C>G (p.Asn2065Lys)
c.6177C>G (p.Asn2059Lys)
c.6171C>G (p.Asn2057Lys)
c.6144C>G (p.Asn2048Lys)
c.6138C>G (p.Asn2046Lys)
c.6120C>G (p.Asn2040Lys)
c.6114C>G (p.Asn2038Lys)
c.6111C>G (p.Asn2037Lys)
c.6087C>G (p.Asn2029Lys)
12g.2688614C>TCA478088151CACNA1C,CACNA1C-AS1c.6027C>T (p.Asn2009=)
c.6057C>T (p.Asn2019=)
c.6132C>T (p.Asn2044=)
c.6165C>T (p.Asn2055=)
c.5994C>T (p.Asn1998=)
c.6042C>T (p.Asn2014=)
c.6291C>T (p.Asn2097=)
c.5919C>T (p.Asn1973=)
c.5952C>T (p.Asn1984=)
c.5943C>T (p.Asn1981=)
c.6117C>T (p.Asn2039=)
n.2455C>T
c.6096C>T (p.Asn2032=)
c.6075C>T (p.Asn2025=)
c.5976C>T (p.Asn1992=)
c.6012C>T (p.Asn2004=)
c.6009C>T (p.Asn2003=)
c.6003C>T (p.Asn2001=)
c.6036C>T (p.Asn2012=)
c.5970C>T (p.Asn1990=)
c.5580C>T (p.Asn1860=)
c.5724C>T (p.Asn1908=)
c.5619C>T (p.Asn1873=)
c.2025C>T (p.Asn675=)
c.5655C>T (p.Asn1885=)
c.6201C>T (p.Asn2067=)
n.333+1526G>A
c.5571C>T (p.Asn1857=)
c.5016C>T (p.Asn1672=)
c.3126C>T (p.Asn1042=)
c.6270C>T (p.Asn2090=)
c.6774C>T (p.Asn2258=)
c.6669C>T (p.Asn2223=)
c.6456C>T (p.Asn2152=)
c.6399C>T (p.Asn2133=)
c.6315C>T (p.Asn2105=)
c.6300C>T (p.Asn2100=)
c.6204C>T (p.Asn2068=)
c.6195C>T (p.Asn2065=)
c.6177C>T (p.Asn2059=)
c.6171C>T (p.Asn2057=)
c.6144C>T (p.Asn2048=)
c.6138C>T (p.Asn2046=)
c.6120C>T (p.Asn2040=)
c.6114C>T (p.Asn2038=)
c.6111C>T (p.Asn2037=)
c.6087C>T (p.Asn2029=)
12g.2688615A>CCA383384710CACNA1C,CACNA1C-AS1c.6028A>C (p.Ser2010Arg)
c.6058A>C (p.Ser2020Arg)
c.6133A>C (p.Ser2045Arg)
c.6166A>C (p.Ser2056Arg)
c.5995A>C (p.Ser1999Arg)
c.6043A>C (p.Ser2015Arg)
c.6292A>C (p.Ser2098Arg)
c.5920A>C (p.Ser1974Arg)
c.5953A>C (p.Ser1985Arg)
c.5944A>C (p.Ser1982Arg)
c.6118A>C (p.Ser2040Arg)
n.2456A>C
c.6097A>C (p.Ser2033Arg)
c.6076A>C (p.Ser2026Arg)
c.5977A>C (p.Ser1993Arg)
c.6013A>C (p.Ser2005Arg)
c.6010A>C (p.Ser2004Arg)
c.6004A>C (p.Ser2002Arg)
c.6037A>C (p.Ser2013Arg)
c.5971A>C (p.Ser1991Arg)
c.5581A>C (p.Ser1861Arg)
c.5725A>C (p.Ser1909Arg)
c.5620A>C (p.Ser1874Arg)
c.2026A>C (p.Ser676Arg)
c.5656A>C (p.Ser1886Arg)
c.6202A>C (p.Ser2068Arg)
n.333+1525T>G
c.5572A>C (p.Ser1858Arg)
c.5017A>C (p.Ser1673Arg)
c.3127A>C (p.Ser1043Arg)
c.6271A>C (p.Ser2091Arg)
c.6775A>C (p.Ser2259Arg)
c.6670A>C (p.Ser2224Arg)
c.6457A>C (p.Ser2153Arg)
c.6400A>C (p.Ser2134Arg)
c.6316A>C (p.Ser2106Arg)
c.6301A>C (p.Ser2101Arg)
c.6205A>C (p.Ser2069Arg)
c.6196A>C (p.Ser2066Arg)
c.6178A>C (p.Ser2060Arg)
c.6172A>C (p.Ser2058Arg)
c.6145A>C (p.Ser2049Arg)
c.6139A>C (p.Ser2047Arg)
c.6121A>C (p.Ser2041Arg)
c.6115A>C (p.Ser2039Arg)
c.6112A>C (p.Ser2038Arg)
c.6088A>C (p.Ser2030Arg)
12g.2688615A>GCA383384712CACNA1C,CACNA1C-AS1c.6028A>G (p.Ser2010Gly)
c.6058A>G (p.Ser2020Gly)
c.6133A>G (p.Ser2045Gly)
c.6166A>G (p.Ser2056Gly)
c.5995A>G (p.Ser1999Gly)
c.6043A>G (p.Ser2015Gly)
c.6292A>G (p.Ser2098Gly)
c.5920A>G (p.Ser1974Gly)
c.5953A>G (p.Ser1985Gly)
c.5944A>G (p.Ser1982Gly)
c.6118A>G (p.Ser2040Gly)
n.2456A>G
c.6097A>G (p.Ser2033Gly)
c.6076A>G (p.Ser2026Gly)
c.5977A>G (p.Ser1993Gly)
c.6013A>G (p.Ser2005Gly)
c.6010A>G (p.Ser2004Gly)
c.6004A>G (p.Ser2002Gly)
c.6037A>G (p.Ser2013Gly)
c.5971A>G (p.Ser1991Gly)
c.5581A>G (p.Ser1861Gly)
c.5725A>G (p.Ser1909Gly)
c.5620A>G (p.Ser1874Gly)
c.2026A>G (p.Ser676Gly)
c.5656A>G (p.Ser1886Gly)
c.6202A>G (p.Ser2068Gly)
n.333+1525T>C
c.5572A>G (p.Ser1858Gly)
c.5017A>G (p.Ser1673Gly)
c.3127A>G (p.Ser1043Gly)
c.6271A>G (p.Ser2091Gly)
c.6775A>G (p.Ser2259Gly)
c.6670A>G (p.Ser2224Gly)
c.6457A>G (p.Ser2153Gly)
c.6400A>G (p.Ser2134Gly)
c.6316A>G (p.Ser2106Gly)
c.6301A>G (p.Ser2101Gly)
c.6205A>G (p.Ser2069Gly)
c.6196A>G (p.Ser2066Gly)
c.6178A>G (p.Ser2060Gly)
c.6172A>G (p.Ser2058Gly)
c.6145A>G (p.Ser2049Gly)
c.6139A>G (p.Ser2047Gly)
c.6121A>G (p.Ser2041Gly)
c.6115A>G (p.Ser2039Gly)
c.6112A>G (p.Ser2038Gly)
c.6088A>G (p.Ser2030Gly)
12g.2688615A>TCA383384714CACNA1C,CACNA1C-AS1c.6028A>T (p.Ser2010Cys)
c.6058A>T (p.Ser2020Cys)
c.6133A>T (p.Ser2045Cys)
c.6166A>T (p.Ser2056Cys)
c.5995A>T (p.Ser1999Cys)
c.6043A>T (p.Ser2015Cys)
c.6292A>T (p.Ser2098Cys)
c.5920A>T (p.Ser1974Cys)
c.5953A>T (p.Ser1985Cys)
c.5944A>T (p.Ser1982Cys)
c.6118A>T (p.Ser2040Cys)
n.2456A>T
c.6097A>T (p.Ser2033Cys)
c.6076A>T (p.Ser2026Cys)
c.5977A>T (p.Ser1993Cys)
c.6013A>T (p.Ser2005Cys)
c.6010A>T (p.Ser2004Cys)
c.6004A>T (p.Ser2002Cys)
c.6037A>T (p.Ser2013Cys)
c.5971A>T (p.Ser1991Cys)
c.5581A>T (p.Ser1861Cys)
c.5725A>T (p.Ser1909Cys)
c.5620A>T (p.Ser1874Cys)
c.2026A>T (p.Ser676Cys)
c.5656A>T (p.Ser1886Cys)
c.6202A>T (p.Ser2068Cys)
n.333+1525T>A
c.5572A>T (p.Ser1858Cys)
c.5017A>T (p.Ser1673Cys)
c.3127A>T (p.Ser1043Cys)
c.6271A>T (p.Ser2091Cys)
c.6775A>T (p.Ser2259Cys)
c.6670A>T (p.Ser2224Cys)
c.6457A>T (p.Ser2153Cys)
c.6400A>T (p.Ser2134Cys)
c.6316A>T (p.Ser2106Cys)
c.6301A>T (p.Ser2101Cys)
c.6205A>T (p.Ser2069Cys)
c.6196A>T (p.Ser2066Cys)
c.6178A>T (p.Ser2060Cys)
c.6172A>T (p.Ser2058Cys)
c.6145A>T (p.Ser2049Cys)
c.6139A>T (p.Ser2047Cys)
c.6121A>T (p.Ser2041Cys)
c.6115A>T (p.Ser2039Cys)
c.6112A>T (p.Ser2038Cys)
c.6088A>T (p.Ser2030Cys)
12g.2688616G>ACA383384717CACNA1C,CACNA1C-AS1c.6029G>A (p.Ser2010Asn)
c.6059G>A (p.Ser2020Asn)
c.6134G>A (p.Ser2045Asn)
c.6167G>A (p.Ser2056Asn)
c.5996G>A (p.Ser1999Asn)
c.6044G>A (p.Ser2015Asn)
c.6293G>A (p.Ser2098Asn)
c.5921G>A (p.Ser1974Asn)
c.5954G>A (p.Ser1985Asn)
c.5945G>A (p.Ser1982Asn)
c.6119G>A (p.Ser2040Asn)
n.2457G>A
c.6098G>A (p.Ser2033Asn)
c.6077G>A (p.Ser2026Asn)
c.5978G>A (p.Ser1993Asn)
c.6014G>A (p.Ser2005Asn)
c.6011G>A (p.Ser2004Asn)
c.6005G>A (p.Ser2002Asn)
c.6038G>A (p.Ser2013Asn)
c.5972G>A (p.Ser1991Asn)
c.5582G>A (p.Ser1861Asn)
c.5726G>A (p.Ser1909Asn)
c.5621G>A (p.Ser1874Asn)
c.2027G>A (p.Ser676Asn)
c.5657G>A (p.Ser1886Asn)
c.6203G>A (p.Ser2068Asn)
n.333+1524C>T
c.5573G>A (p.Ser1858Asn)
c.5018G>A (p.Ser1673Asn)
c.3128G>A (p.Ser1043Asn)
c.6272G>A (p.Ser2091Asn)
c.6776G>A (p.Ser2259Asn)
c.6671G>A (p.Ser2224Asn)
c.6458G>A (p.Ser2153Asn)
c.6401G>A (p.Ser2134Asn)
c.6317G>A (p.Ser2106Asn)
c.6302G>A (p.Ser2101Asn)
c.6206G>A (p.Ser2069Asn)
c.6197G>A (p.Ser2066Asn)
c.6179G>A (p.Ser2060Asn)
c.6173G>A (p.Ser2058Asn)
c.6146G>A (p.Ser2049Asn)
c.6140G>A (p.Ser2047Asn)
c.6122G>A (p.Ser2041Asn)
c.6116G>A (p.Ser2039Asn)
c.6113G>A (p.Ser2038Asn)
c.6089G>A (p.Ser2030Asn)
 dbSNP
12g.2688616G>CCA383384719CACNA1C,CACNA1C-AS1c.6029G>C (p.Ser2010Thr)
c.6059G>C (p.Ser2020Thr)
c.6134G>C (p.Ser2045Thr)
c.6167G>C (p.Ser2056Thr)
c.5996G>C (p.Ser1999Thr)
c.6044G>C (p.Ser2015Thr)
c.6293G>C (p.Ser2098Thr)
c.5921G>C (p.Ser1974Thr)
c.5954G>C (p.Ser1985Thr)
c.5945G>C (p.Ser1982Thr)
c.6119G>C (p.Ser2040Thr)
n.2457G>C
c.6098G>C (p.Ser2033Thr)
c.6077G>C (p.Ser2026Thr)
c.5978G>C (p.Ser1993Thr)
c.6014G>C (p.Ser2005Thr)
c.6011G>C (p.Ser2004Thr)
c.6005G>C (p.Ser2002Thr)
c.6038G>C (p.Ser2013Thr)
c.5972G>C (p.Ser1991Thr)
c.5582G>C (p.Ser1861Thr)
c.5726G>C (p.Ser1909Thr)
c.5621G>C (p.Ser1874Thr)
c.2027G>C (p.Ser676Thr)
c.5657G>C (p.Ser1886Thr)
c.6203G>C (p.Ser2068Thr)
n.333+1524C>G
c.5573G>C (p.Ser1858Thr)
c.5018G>C (p.Ser1673Thr)
c.3128G>C (p.Ser1043Thr)
c.6272G>C (p.Ser2091Thr)
c.6776G>C (p.Ser2259Thr)
c.6671G>C (p.Ser2224Thr)
c.6458G>C (p.Ser2153Thr)
c.6401G>C (p.Ser2134Thr)
c.6317G>C (p.Ser2106Thr)
c.6302G>C (p.Ser2101Thr)
c.6206G>C (p.Ser2069Thr)
c.6197G>C (p.Ser2066Thr)
c.6179G>C (p.Ser2060Thr)
c.6173G>C (p.Ser2058Thr)
c.6146G>C (p.Ser2049Thr)
c.6140G>C (p.Ser2047Thr)
c.6122G>C (p.Ser2041Thr)
c.6116G>C (p.Ser2039Thr)
c.6113G>C (p.Ser2038Thr)
c.6089G>C (p.Ser2030Thr)

Number of alleles fetched