| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.2688702G>A | CA211379 | CACNA1C,CACNA1C-AS1 | c.6115G>A (p.Val2039Ile) c.6145G>A (p.Val2049Ile) c.6220G>A (p.Val2074Ile) c.6253G>A (p.Val2085Ile) c.6082G>A (p.Val2028Ile) c.6130G>A (p.Val2044Ile) c.6379G>A (p.Val2127Ile) c.6007G>A (p.Val2003Ile) c.6040G>A (p.Val2014Ile) c.6031G>A (p.Val2011Ile) c.6205G>A (p.Val2069Ile) n.2543G>A c.6184G>A (p.Val2062Ile) c.6163G>A (p.Val2055Ile) c.6064G>A (p.Val2022Ile) c.6100G>A (p.Val2034Ile) c.6097G>A (p.Val2033Ile) c.6091G>A (p.Val2031Ile) c.6124G>A (p.Val2042Ile) c.6058G>A (p.Val2020Ile) c.5668G>A (p.Val1890Ile) c.5812G>A (p.Val1938Ile) c.5707G>A (p.Val1903Ile) c.2113G>A (p.Val705Ile) c.5743G>A (p.Val1915Ile) c.6289G>A (p.Val2097Ile) n.333+1438C>T c.5659G>A (p.Val1887Ile) c.5104G>A (p.Val1702Ile) c.3214G>A (p.Val1072Ile) c.6358G>A (p.Val2120Ile) c.6862G>A (p.Val2288Ile) c.6757G>A (p.Val2253Ile) c.6544G>A (p.Val2182Ile) c.6487G>A (p.Val2163Ile) c.6403G>A (p.Val2135Ile) c.6388G>A (p.Val2130Ile) c.6292G>A (p.Val2098Ile) c.6283G>A (p.Val2095Ile) c.6265G>A (p.Val2089Ile) c.6259G>A (p.Val2087Ile) c.6232G>A (p.Val2078Ile) c.6226G>A (p.Val2076Ile) c.6208G>A (p.Val2070Ile) c.6202G>A (p.Val2068Ile) c.6199G>A (p.Val2067Ile) c.6175G>A (p.Val2059Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 12 | g.2688702G>T | CA383385233 | CACNA1C,CACNA1C-AS1 | c.6115G>T (p.Val2039Phe) c.6145G>T (p.Val2049Phe) c.6220G>T (p.Val2074Phe) c.6253G>T (p.Val2085Phe) c.6082G>T (p.Val2028Phe) c.6130G>T (p.Val2044Phe) c.6379G>T (p.Val2127Phe) c.6007G>T (p.Val2003Phe) c.6040G>T (p.Val2014Phe) c.6031G>T (p.Val2011Phe) c.6205G>T (p.Val2069Phe) n.2543G>T c.6184G>T (p.Val2062Phe) c.6163G>T (p.Val2055Phe) c.6064G>T (p.Val2022Phe) c.6100G>T (p.Val2034Phe) c.6097G>T (p.Val2033Phe) c.6091G>T (p.Val2031Phe) c.6124G>T (p.Val2042Phe) c.6058G>T (p.Val2020Phe) c.5668G>T (p.Val1890Phe) c.5812G>T (p.Val1938Phe) c.5707G>T (p.Val1903Phe) c.2113G>T (p.Val705Phe) c.5743G>T (p.Val1915Phe) c.6289G>T (p.Val2097Phe) n.333+1438C>A c.5659G>T (p.Val1887Phe) c.5104G>T (p.Val1702Phe) c.3214G>T (p.Val1072Phe) c.6358G>T (p.Val2120Phe) c.6862G>T (p.Val2288Phe) c.6757G>T (p.Val2253Phe) c.6544G>T (p.Val2182Phe) c.6487G>T (p.Val2163Phe) c.6403G>T (p.Val2135Phe) c.6388G>T (p.Val2130Phe) c.6292G>T (p.Val2098Phe) c.6283G>T (p.Val2095Phe) c.6265G>T (p.Val2089Phe) c.6259G>T (p.Val2087Phe) c.6232G>T (p.Val2078Phe) c.6226G>T (p.Val2076Phe) c.6208G>T (p.Val2070Phe) c.6202G>T (p.Val2068Phe) c.6199G>T (p.Val2067Phe) c.6175G>T (p.Val2059Phe) | ClinVar dbSNP |
| 12 | g.2688702G= | CA2012352099 | CACNA1C,CACNA1C-AS1 | c.6115G= (p.Val2039=) c.6145G= (p.Val2049=) c.6220G= (p.Val2074=) c.6253G= (p.Val2085=) c.6082G= (p.Val2028=) c.6130G= (p.Val2044=) c.6379G= (p.Val2127=) c.6007G= (p.Val2003=) c.6040G= (p.Val2014=) c.6031G= (p.Val2011=) c.6205G= (p.Val2069=) n.2543G= c.6184G= (p.Val2062=) c.6163G= (p.Val2055=) c.6064G= (p.Val2022=) c.6100G= (p.Val2034=) c.6097G= (p.Val2033=) c.6091G= (p.Val2031=) c.6124G= (p.Val2042=) c.6058G= (p.Val2020=) c.5668G= (p.Val1890=) c.5812G= (p.Val1938=) c.5707G= (p.Val1903=) c.2113G= (p.Val705=) c.5743G= (p.Val1915=) c.6289G= (p.Val2097=) n.333+1438C= c.5659G= (p.Val1887=) c.5104G= (p.Val1702=) c.3214G= (p.Val1072=) c.6358G= (p.Val2120=) c.6862G= (p.Val2288=) c.6757G= (p.Val2253=) c.6544G= (p.Val2182=) c.6487G= (p.Val2163=) c.6403G= (p.Val2135=) c.6388G= (p.Val2130=) c.6292G= (p.Val2098=) c.6283G= (p.Val2095=) c.6265G= (p.Val2089=) c.6259G= (p.Val2087=) c.6232G= (p.Val2078=) c.6226G= (p.Val2076=) c.6208G= (p.Val2070=) c.6202G= (p.Val2068=) c.6199G= (p.Val2067=) c.6175G= (p.Val2059=) | dbSNP |