UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.2688688_2688719del | CA2617074689 | CACNA1C,CACNA1C-AS1 | c.6101_6132del (p.Arg2034GlnfsTer?) c.6131_6162del (p.Arg2044GlnfsTer?) c.6206_6237del (p.Arg2069GlnfsTer?) c.6239_6270del (p.Arg2080GlnfsTer?) c.6068_6099del (p.Arg2023GlnfsTer?) c.6116_6147del (p.Arg2039GlnfsTer?) c.6365_6396del (p.Arg2122GlnfsTer?) c.5993_6024del (p.Arg1998GlnfsTer?) c.6026_6057del (p.Arg2009GlnfsTer?) c.6017_6048del (p.Arg2006GlnfsTer?) c.6191_6222del (p.Arg2064GlnfsTer?) n.2529_2560del c.6170_6201del (p.Arg2057GlnfsTer?) c.6149_6180del (p.Arg2050GlnfsTer?) c.6050_6081del (p.Arg2017GlnfsTer?) c.6086_6117del (p.Arg2029GlnfsTer?) c.6083_6114del (p.Arg2028GlnfsTer?) c.6077_6108del (p.Arg2026GlnfsTer?) c.6110_6141del (p.Arg2037GlnfsTer?) c.6044_6075del (p.Arg2015GlnfsTer?) c.5654_5685del (p.Arg1885GlnfsTer?) c.5798_5829del (p.Arg1933GlnfsTer?) c.5693_5724del (p.Arg1898GlnfsTer?) c.2099_2130del (p.Arg700GlnfsTer?) c.5729_5760del (p.Arg1910GlnfsTer?) c.6275_6306del (p.Arg2092GlnfsTer?) n.333+1425_333+1456del c.5645_5676del (p.Arg1882GlnfsTer?) c.5090_5121del (p.Arg1697GlnfsTer?) c.3200_3231del (p.Arg1067GlnfsTer?) c.6344_6375del (p.Arg2115GlnfsTer?) c.6848_6879del (p.Arg2283GlnfsTer?) c.6743_6774del (p.Arg2248GlnfsTer?) c.6530_6561del (p.Arg2177GlnfsTer?) c.6473_6504del (p.Arg2158GlnfsTer?) c.6389_6420del (p.Arg2130GlnfsTer?) c.6374_6405del (p.Arg2125GlnfsTer?) c.6278_6309del (p.Arg2093GlnfsTer?) c.6269_6300del (p.Arg2090GlnfsTer?) c.6251_6282del (p.Arg2084GlnfsTer?) c.6245_6276del (p.Arg2082GlnfsTer?) c.6218_6249del (p.Arg2073GlnfsTer?) c.6212_6243del (p.Arg2071GlnfsTer?) c.6194_6225del (p.Arg2065GlnfsTer?) c.6188_6219del (p.Arg2063GlnfsTer?) c.6185_6216del (p.Arg2062GlnfsTer?) c.6161_6192del (p.Arg2054GlnfsTer?) | gnomAD v4 |
| 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>C | CA383385231 | CACNA1C,CACNA1C-AS1 | c.6115G>C (p.Val2039Leu) c.6145G>C (p.Val2049Leu) c.6220G>C (p.Val2074Leu) c.6253G>C (p.Val2085Leu) c.6082G>C (p.Val2028Leu) c.6130G>C (p.Val2044Leu) c.6379G>C (p.Val2127Leu) c.6007G>C (p.Val2003Leu) c.6040G>C (p.Val2014Leu) c.6031G>C (p.Val2011Leu) c.6205G>C (p.Val2069Leu) n.2543G>C c.6184G>C (p.Val2062Leu) c.6163G>C (p.Val2055Leu) c.6064G>C (p.Val2022Leu) c.6100G>C (p.Val2034Leu) c.6097G>C (p.Val2033Leu) c.6091G>C (p.Val2031Leu) c.6124G>C (p.Val2042Leu) c.6058G>C (p.Val2020Leu) c.5668G>C (p.Val1890Leu) c.5812G>C (p.Val1938Leu) c.5707G>C (p.Val1903Leu) c.2113G>C (p.Val705Leu) c.5743G>C (p.Val1915Leu) c.6289G>C (p.Val2097Leu) n.333+1438C>G c.5659G>C (p.Val1887Leu) c.5104G>C (p.Val1702Leu) c.3214G>C (p.Val1072Leu) c.6358G>C (p.Val2120Leu) c.6862G>C (p.Val2288Leu) c.6757G>C (p.Val2253Leu) c.6544G>C (p.Val2182Leu) c.6487G>C (p.Val2163Leu) c.6403G>C (p.Val2135Leu) c.6388G>C (p.Val2130Leu) c.6292G>C (p.Val2098Leu) c.6283G>C (p.Val2095Leu) c.6265G>C (p.Val2089Leu) c.6259G>C (p.Val2087Leu) c.6232G>C (p.Val2078Leu) c.6226G>C (p.Val2076Leu) c.6208G>C (p.Val2070Leu) c.6202G>C (p.Val2068Leu) c.6199G>C (p.Val2067Leu) c.6175G>C (p.Val2059Leu) | |
| 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=) | |
| 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.2688703T>A | CA383385235 | CACNA1C,CACNA1C-AS1 | c.6116T>A (p.Val2039Asp) c.6146T>A (p.Val2049Asp) c.6221T>A (p.Val2074Asp) c.6254T>A (p.Val2085Asp) c.6083T>A (p.Val2028Asp) c.6131T>A (p.Val2044Asp) c.6380T>A (p.Val2127Asp) c.6008T>A (p.Val2003Asp) c.6041T>A (p.Val2014Asp) c.6032T>A (p.Val2011Asp) c.6206T>A (p.Val2069Asp) n.2544T>A c.6185T>A (p.Val2062Asp) c.6164T>A (p.Val2055Asp) c.6065T>A (p.Val2022Asp) c.6101T>A (p.Val2034Asp) c.6098T>A (p.Val2033Asp) c.6092T>A (p.Val2031Asp) c.6125T>A (p.Val2042Asp) c.6059T>A (p.Val2020Asp) c.5669T>A (p.Val1890Asp) c.5813T>A (p.Val1938Asp) c.5708T>A (p.Val1903Asp) c.2114T>A (p.Val705Asp) c.5744T>A (p.Val1915Asp) c.6290T>A (p.Val2097Asp) n.333+1437A>T c.5660T>A (p.Val1887Asp) c.5105T>A (p.Val1702Asp) c.3215T>A (p.Val1072Asp) c.6359T>A (p.Val2120Asp) c.6863T>A (p.Val2288Asp) c.6758T>A (p.Val2253Asp) c.6545T>A (p.Val2182Asp) c.6488T>A (p.Val2163Asp) c.6404T>A (p.Val2135Asp) c.6389T>A (p.Val2130Asp) c.6293T>A (p.Val2098Asp) c.6284T>A (p.Val2095Asp) c.6266T>A (p.Val2089Asp) c.6260T>A (p.Val2087Asp) c.6233T>A (p.Val2078Asp) c.6227T>A (p.Val2076Asp) c.6209T>A (p.Val2070Asp) c.6203T>A (p.Val2068Asp) c.6200T>A (p.Val2067Asp) c.6176T>A (p.Val2059Asp) | |
| 12 | g.2688703T>C | CA383385237 | CACNA1C,CACNA1C-AS1 | c.6116T>C (p.Val2039Ala) c.6146T>C (p.Val2049Ala) c.6221T>C (p.Val2074Ala) c.6254T>C (p.Val2085Ala) c.6083T>C (p.Val2028Ala) c.6131T>C (p.Val2044Ala) c.6380T>C (p.Val2127Ala) c.6008T>C (p.Val2003Ala) c.6041T>C (p.Val2014Ala) c.6032T>C (p.Val2011Ala) c.6206T>C (p.Val2069Ala) n.2544T>C c.6185T>C (p.Val2062Ala) c.6164T>C (p.Val2055Ala) c.6065T>C (p.Val2022Ala) c.6101T>C (p.Val2034Ala) c.6098T>C (p.Val2033Ala) c.6092T>C (p.Val2031Ala) c.6125T>C (p.Val2042Ala) c.6059T>C (p.Val2020Ala) c.5669T>C (p.Val1890Ala) c.5813T>C (p.Val1938Ala) c.5708T>C (p.Val1903Ala) c.2114T>C (p.Val705Ala) c.5744T>C (p.Val1915Ala) c.6290T>C (p.Val2097Ala) n.333+1437A>G c.5660T>C (p.Val1887Ala) c.5105T>C (p.Val1702Ala) c.3215T>C (p.Val1072Ala) c.6359T>C (p.Val2120Ala) c.6863T>C (p.Val2288Ala) c.6758T>C (p.Val2253Ala) c.6545T>C (p.Val2182Ala) c.6488T>C (p.Val2163Ala) c.6404T>C (p.Val2135Ala) c.6389T>C (p.Val2130Ala) c.6293T>C (p.Val2098Ala) c.6284T>C (p.Val2095Ala) c.6266T>C (p.Val2089Ala) c.6260T>C (p.Val2087Ala) c.6233T>C (p.Val2078Ala) c.6227T>C (p.Val2076Ala) c.6209T>C (p.Val2070Ala) c.6203T>C (p.Val2068Ala) c.6200T>C (p.Val2067Ala) c.6176T>C (p.Val2059Ala) | ClinVar gnomAD v4 |
| 12 | g.2688703T>G | CA383385239 | CACNA1C,CACNA1C-AS1 | c.6116T>G (p.Val2039Gly) c.6146T>G (p.Val2049Gly) c.6221T>G (p.Val2074Gly) c.6254T>G (p.Val2085Gly) c.6083T>G (p.Val2028Gly) c.6131T>G (p.Val2044Gly) c.6380T>G (p.Val2127Gly) c.6008T>G (p.Val2003Gly) c.6041T>G (p.Val2014Gly) c.6032T>G (p.Val2011Gly) c.6206T>G (p.Val2069Gly) n.2544T>G c.6185T>G (p.Val2062Gly) c.6164T>G (p.Val2055Gly) c.6065T>G (p.Val2022Gly) c.6101T>G (p.Val2034Gly) c.6098T>G (p.Val2033Gly) c.6092T>G (p.Val2031Gly) c.6125T>G (p.Val2042Gly) c.6059T>G (p.Val2020Gly) c.5669T>G (p.Val1890Gly) c.5813T>G (p.Val1938Gly) c.5708T>G (p.Val1903Gly) c.2114T>G (p.Val705Gly) c.5744T>G (p.Val1915Gly) c.6290T>G (p.Val2097Gly) n.333+1437A>C c.5660T>G (p.Val1887Gly) c.5105T>G (p.Val1702Gly) c.3215T>G (p.Val1072Gly) c.6359T>G (p.Val2120Gly) c.6863T>G (p.Val2288Gly) c.6758T>G (p.Val2253Gly) c.6545T>G (p.Val2182Gly) c.6488T>G (p.Val2163Gly) c.6404T>G (p.Val2135Gly) c.6389T>G (p.Val2130Gly) c.6293T>G (p.Val2098Gly) c.6284T>G (p.Val2095Gly) c.6266T>G (p.Val2089Gly) c.6260T>G (p.Val2087Gly) c.6233T>G (p.Val2078Gly) c.6227T>G (p.Val2076Gly) c.6209T>G (p.Val2070Gly) c.6203T>G (p.Val2068Gly) c.6200T>G (p.Val2067Gly) c.6176T>G (p.Val2059Gly) | |
| 12 | g.2688704C>A | CA478088259 | CACNA1C,CACNA1C-AS1 | c.6117C>A (p.Val2039=) c.6147C>A (p.Val2049=) c.6222C>A (p.Val2074=) c.6255C>A (p.Val2085=) c.6084C>A (p.Val2028=) c.6132C>A (p.Val2044=) c.6381C>A (p.Val2127=) c.6009C>A (p.Val2003=) c.6042C>A (p.Val2014=) c.6033C>A (p.Val2011=) c.6207C>A (p.Val2069=) n.2545C>A c.6186C>A (p.Val2062=) c.6165C>A (p.Val2055=) c.6066C>A (p.Val2022=) c.6102C>A (p.Val2034=) c.6099C>A (p.Val2033=) c.6093C>A (p.Val2031=) c.6126C>A (p.Val2042=) c.6060C>A (p.Val2020=) c.5670C>A (p.Val1890=) c.5814C>A (p.Val1938=) c.5709C>A (p.Val1903=) c.2115C>A (p.Val705=) c.5745C>A (p.Val1915=) c.6291C>A (p.Val2097=) n.333+1436G>T c.5661C>A (p.Val1887=) c.5106C>A (p.Val1702=) c.3216C>A (p.Val1072=) c.6360C>A (p.Val2120=) c.6864C>A (p.Val2288=) c.6759C>A (p.Val2253=) c.6546C>A (p.Val2182=) c.6489C>A (p.Val2163=) c.6405C>A (p.Val2135=) c.6390C>A (p.Val2130=) c.6294C>A (p.Val2098=) c.6285C>A (p.Val2095=) c.6267C>A (p.Val2089=) c.6261C>A (p.Val2087=) c.6234C>A (p.Val2078=) c.6228C>A (p.Val2076=) c.6210C>A (p.Val2070=) c.6204C>A (p.Val2068=) c.6201C>A (p.Val2067=) c.6177C>A (p.Val2059=) | |
| 12 | g.2688704C= | CA2012352100 | CACNA1C,CACNA1C-AS1 | c.6117C= (p.Val2039=) c.6147C= (p.Val2049=) c.6222C= (p.Val2074=) c.6255C= (p.Val2085=) c.6084C= (p.Val2028=) c.6132C= (p.Val2044=) c.6381C= (p.Val2127=) c.6009C= (p.Val2003=) c.6042C= (p.Val2014=) c.6033C= (p.Val2011=) c.6207C= (p.Val2069=) n.2545C= c.6186C= (p.Val2062=) c.6165C= (p.Val2055=) c.6066C= (p.Val2022=) c.6102C= (p.Val2034=) c.6099C= (p.Val2033=) c.6093C= (p.Val2031=) c.6126C= (p.Val2042=) c.6060C= (p.Val2020=) c.5670C= (p.Val1890=) c.5814C= (p.Val1938=) c.5709C= (p.Val1903=) c.2115C= (p.Val705=) c.5745C= (p.Val1915=) c.6291C= (p.Val2097=) n.333+1436G= c.5661C= (p.Val1887=) c.5106C= (p.Val1702=) c.3216C= (p.Val1072=) c.6360C= (p.Val2120=) c.6864C= (p.Val2288=) c.6759C= (p.Val2253=) c.6546C= (p.Val2182=) c.6489C= (p.Val2163=) c.6405C= (p.Val2135=) c.6390C= (p.Val2130=) c.6294C= (p.Val2098=) c.6285C= (p.Val2095=) c.6267C= (p.Val2089=) c.6261C= (p.Val2087=) c.6234C= (p.Val2078=) c.6228C= (p.Val2076=) c.6210C= (p.Val2070=) c.6204C= (p.Val2068=) c.6201C= (p.Val2067=) c.6177C= (p.Val2059=) | |
| 12 | g.2688704C>G | CA478088256 | CACNA1C,CACNA1C-AS1 | c.6117C>G (p.Val2039=) c.6147C>G (p.Val2049=) c.6222C>G (p.Val2074=) c.6255C>G (p.Val2085=) c.6084C>G (p.Val2028=) c.6132C>G (p.Val2044=) c.6381C>G (p.Val2127=) c.6009C>G (p.Val2003=) c.6042C>G (p.Val2014=) c.6033C>G (p.Val2011=) c.6207C>G (p.Val2069=) n.2545C>G c.6186C>G (p.Val2062=) c.6165C>G (p.Val2055=) c.6066C>G (p.Val2022=) c.6102C>G (p.Val2034=) c.6099C>G (p.Val2033=) c.6093C>G (p.Val2031=) c.6126C>G (p.Val2042=) c.6060C>G (p.Val2020=) c.5670C>G (p.Val1890=) c.5814C>G (p.Val1938=) c.5709C>G (p.Val1903=) c.2115C>G (p.Val705=) c.5745C>G (p.Val1915=) c.6291C>G (p.Val2097=) n.333+1436G>C c.5661C>G (p.Val1887=) c.5106C>G (p.Val1702=) c.3216C>G (p.Val1072=) c.6360C>G (p.Val2120=) c.6864C>G (p.Val2288=) c.6759C>G (p.Val2253=) c.6546C>G (p.Val2182=) c.6489C>G (p.Val2163=) c.6405C>G (p.Val2135=) c.6390C>G (p.Val2130=) c.6294C>G (p.Val2098=) c.6285C>G (p.Val2095=) c.6267C>G (p.Val2089=) c.6261C>G (p.Val2087=) c.6234C>G (p.Val2078=) c.6228C>G (p.Val2076=) c.6210C>G (p.Val2070=) c.6204C>G (p.Val2068=) c.6201C>G (p.Val2067=) c.6177C>G (p.Val2059=) | |
| 12 | g.2688704C>T | CA6390064 | CACNA1C,CACNA1C-AS1 | c.6117C>T (p.Val2039=) c.6147C>T (p.Val2049=) c.6222C>T (p.Val2074=) c.6255C>T (p.Val2085=) c.6084C>T (p.Val2028=) c.6132C>T (p.Val2044=) c.6381C>T (p.Val2127=) c.6009C>T (p.Val2003=) c.6042C>T (p.Val2014=) c.6033C>T (p.Val2011=) c.6207C>T (p.Val2069=) n.2545C>T c.6186C>T (p.Val2062=) c.6165C>T (p.Val2055=) c.6066C>T (p.Val2022=) c.6102C>T (p.Val2034=) c.6099C>T (p.Val2033=) c.6093C>T (p.Val2031=) c.6126C>T (p.Val2042=) c.6060C>T (p.Val2020=) c.5670C>T (p.Val1890=) c.5814C>T (p.Val1938=) c.5709C>T (p.Val1903=) c.2115C>T (p.Val705=) c.5745C>T (p.Val1915=) c.6291C>T (p.Val2097=) n.333+1436G>A c.5661C>T (p.Val1887=) c.5106C>T (p.Val1702=) c.3216C>T (p.Val1072=) c.6360C>T (p.Val2120=) c.6864C>T (p.Val2288=) c.6759C>T (p.Val2253=) c.6546C>T (p.Val2182=) c.6489C>T (p.Val2163=) c.6405C>T (p.Val2135=) c.6390C>T (p.Val2130=) c.6294C>T (p.Val2098=) c.6285C>T (p.Val2095=) c.6267C>T (p.Val2089=) c.6261C>T (p.Val2087=) c.6234C>T (p.Val2078=) c.6228C>T (p.Val2076=) c.6210C>T (p.Val2070=) c.6204C>T (p.Val2068=) c.6201C>T (p.Val2067=) c.6177C>T (p.Val2059=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.2688705T>A | CA383385243 | CACNA1C,CACNA1C-AS1 | c.6118T>A (p.Ser2040Thr) c.6148T>A (p.Ser2050Thr) c.6223T>A (p.Ser2075Thr) c.6256T>A (p.Ser2086Thr) c.6085T>A (p.Ser2029Thr) c.6133T>A (p.Ser2045Thr) c.6382T>A (p.Ser2128Thr) c.6010T>A (p.Ser2004Thr) c.6043T>A (p.Ser2015Thr) c.6034T>A (p.Ser2012Thr) c.6208T>A (p.Ser2070Thr) n.2546T>A c.6187T>A (p.Ser2063Thr) c.6166T>A (p.Ser2056Thr) c.6067T>A (p.Ser2023Thr) c.6103T>A (p.Ser2035Thr) c.6100T>A (p.Ser2034Thr) c.6094T>A (p.Ser2032Thr) c.6127T>A (p.Ser2043Thr) c.6061T>A (p.Ser2021Thr) c.5671T>A (p.Ser1891Thr) c.5815T>A (p.Ser1939Thr) c.5710T>A (p.Ser1904Thr) c.2116T>A (p.Ser706Thr) c.5746T>A (p.Ser1916Thr) c.6292T>A (p.Ser2098Thr) n.333+1435A>T c.5662T>A (p.Ser1888Thr) c.5107T>A (p.Ser1703Thr) c.3217T>A (p.Ser1073Thr) c.6361T>A (p.Ser2121Thr) c.6865T>A (p.Ser2289Thr) c.6760T>A (p.Ser2254Thr) c.6547T>A (p.Ser2183Thr) c.6490T>A (p.Ser2164Thr) c.6406T>A (p.Ser2136Thr) c.6391T>A (p.Ser2131Thr) c.6295T>A (p.Ser2099Thr) c.6286T>A (p.Ser2096Thr) c.6268T>A (p.Ser2090Thr) c.6262T>A (p.Ser2088Thr) c.6235T>A (p.Ser2079Thr) c.6229T>A (p.Ser2077Thr) c.6211T>A (p.Ser2071Thr) c.6205T>A (p.Ser2069Thr) c.6202T>A (p.Ser2068Thr) c.6178T>A (p.Ser2060Thr) | |
| 12 | g.2688705T>C | CA383385244 | CACNA1C,CACNA1C-AS1 | c.6118T>C (p.Ser2040Pro) c.6148T>C (p.Ser2050Pro) c.6223T>C (p.Ser2075Pro) c.6256T>C (p.Ser2086Pro) c.6085T>C (p.Ser2029Pro) c.6133T>C (p.Ser2045Pro) c.6382T>C (p.Ser2128Pro) c.6010T>C (p.Ser2004Pro) c.6043T>C (p.Ser2015Pro) c.6034T>C (p.Ser2012Pro) c.6208T>C (p.Ser2070Pro) n.2546T>C c.6187T>C (p.Ser2063Pro) c.6166T>C (p.Ser2056Pro) c.6067T>C (p.Ser2023Pro) c.6103T>C (p.Ser2035Pro) c.6100T>C (p.Ser2034Pro) c.6094T>C (p.Ser2032Pro) c.6127T>C (p.Ser2043Pro) c.6061T>C (p.Ser2021Pro) c.5671T>C (p.Ser1891Pro) c.5815T>C (p.Ser1939Pro) c.5710T>C (p.Ser1904Pro) c.2116T>C (p.Ser706Pro) c.5746T>C (p.Ser1916Pro) c.6292T>C (p.Ser2098Pro) n.333+1435A>G c.5662T>C (p.Ser1888Pro) c.5107T>C (p.Ser1703Pro) c.3217T>C (p.Ser1073Pro) c.6361T>C (p.Ser2121Pro) c.6865T>C (p.Ser2289Pro) c.6760T>C (p.Ser2254Pro) c.6547T>C (p.Ser2183Pro) c.6490T>C (p.Ser2164Pro) c.6406T>C (p.Ser2136Pro) c.6391T>C (p.Ser2131Pro) c.6295T>C (p.Ser2099Pro) c.6286T>C (p.Ser2096Pro) c.6268T>C (p.Ser2090Pro) c.6262T>C (p.Ser2088Pro) c.6235T>C (p.Ser2079Pro) c.6229T>C (p.Ser2077Pro) c.6211T>C (p.Ser2071Pro) c.6205T>C (p.Ser2069Pro) c.6202T>C (p.Ser2068Pro) c.6178T>C (p.Ser2060Pro) | |
| 12 | g.2688705T>G | CA383385246 | CACNA1C,CACNA1C-AS1 | c.6118T>G (p.Ser2040Ala) c.6148T>G (p.Ser2050Ala) c.6223T>G (p.Ser2075Ala) c.6256T>G (p.Ser2086Ala) c.6085T>G (p.Ser2029Ala) c.6133T>G (p.Ser2045Ala) c.6382T>G (p.Ser2128Ala) c.6010T>G (p.Ser2004Ala) c.6043T>G (p.Ser2015Ala) c.6034T>G (p.Ser2012Ala) c.6208T>G (p.Ser2070Ala) n.2546T>G c.6187T>G (p.Ser2063Ala) c.6166T>G (p.Ser2056Ala) c.6067T>G (p.Ser2023Ala) c.6103T>G (p.Ser2035Ala) c.6100T>G (p.Ser2034Ala) c.6094T>G (p.Ser2032Ala) c.6127T>G (p.Ser2043Ala) c.6061T>G (p.Ser2021Ala) c.5671T>G (p.Ser1891Ala) c.5815T>G (p.Ser1939Ala) c.5710T>G (p.Ser1904Ala) c.2116T>G (p.Ser706Ala) c.5746T>G (p.Ser1916Ala) c.6292T>G (p.Ser2098Ala) n.333+1435A>C c.5662T>G (p.Ser1888Ala) c.5107T>G (p.Ser1703Ala) c.3217T>G (p.Ser1073Ala) c.6361T>G (p.Ser2121Ala) c.6865T>G (p.Ser2289Ala) c.6760T>G (p.Ser2254Ala) c.6547T>G (p.Ser2183Ala) c.6490T>G (p.Ser2164Ala) c.6406T>G (p.Ser2136Ala) c.6391T>G (p.Ser2131Ala) c.6295T>G (p.Ser2099Ala) c.6286T>G (p.Ser2096Ala) c.6268T>G (p.Ser2090Ala) c.6262T>G (p.Ser2088Ala) c.6235T>G (p.Ser2079Ala) c.6229T>G (p.Ser2077Ala) c.6211T>G (p.Ser2071Ala) c.6205T>G (p.Ser2069Ala) c.6202T>G (p.Ser2068Ala) c.6178T>G (p.Ser2060Ala) | gnomAD v4 |
| 12 | g.2688706C>A | CA383385248 | CACNA1C,CACNA1C-AS1 | c.6119C>A (p.Ser2040Tyr) c.6149C>A (p.Ser2050Tyr) c.6224C>A (p.Ser2075Tyr) c.6257C>A (p.Ser2086Tyr) c.6086C>A (p.Ser2029Tyr) c.6134C>A (p.Ser2045Tyr) c.6383C>A (p.Ser2128Tyr) c.6011C>A (p.Ser2004Tyr) c.6044C>A (p.Ser2015Tyr) c.6035C>A (p.Ser2012Tyr) c.6209C>A (p.Ser2070Tyr) n.2547C>A c.6188C>A (p.Ser2063Tyr) c.6167C>A (p.Ser2056Tyr) c.6068C>A (p.Ser2023Tyr) c.6104C>A (p.Ser2035Tyr) c.6101C>A (p.Ser2034Tyr) c.6095C>A (p.Ser2032Tyr) c.6128C>A (p.Ser2043Tyr) c.6062C>A (p.Ser2021Tyr) c.5672C>A (p.Ser1891Tyr) c.5816C>A (p.Ser1939Tyr) c.5711C>A (p.Ser1904Tyr) c.2117C>A (p.Ser706Tyr) c.5747C>A (p.Ser1916Tyr) c.6293C>A (p.Ser2098Tyr) n.333+1434G>T c.5663C>A (p.Ser1888Tyr) c.5108C>A (p.Ser1703Tyr) c.3218C>A (p.Ser1073Tyr) c.6362C>A (p.Ser2121Tyr) c.6866C>A (p.Ser2289Tyr) c.6761C>A (p.Ser2254Tyr) c.6548C>A (p.Ser2183Tyr) c.6491C>A (p.Ser2164Tyr) c.6407C>A (p.Ser2136Tyr) c.6392C>A (p.Ser2131Tyr) c.6296C>A (p.Ser2099Tyr) c.6287C>A (p.Ser2096Tyr) c.6269C>A (p.Ser2090Tyr) c.6263C>A (p.Ser2088Tyr) c.6236C>A (p.Ser2079Tyr) c.6230C>A (p.Ser2077Tyr) c.6212C>A (p.Ser2071Tyr) c.6206C>A (p.Ser2069Tyr) c.6203C>A (p.Ser2068Tyr) c.6179C>A (p.Ser2060Tyr) | |
| 12 | g.2688706C>G | CA383385250 | CACNA1C,CACNA1C-AS1 | c.6119C>G (p.Ser2040Cys) c.6149C>G (p.Ser2050Cys) c.6224C>G (p.Ser2075Cys) c.6257C>G (p.Ser2086Cys) c.6086C>G (p.Ser2029Cys) c.6134C>G (p.Ser2045Cys) c.6383C>G (p.Ser2128Cys) c.6011C>G (p.Ser2004Cys) c.6044C>G (p.Ser2015Cys) c.6035C>G (p.Ser2012Cys) c.6209C>G (p.Ser2070Cys) n.2547C>G c.6188C>G (p.Ser2063Cys) c.6167C>G (p.Ser2056Cys) c.6068C>G (p.Ser2023Cys) c.6104C>G (p.Ser2035Cys) c.6101C>G (p.Ser2034Cys) c.6095C>G (p.Ser2032Cys) c.6128C>G (p.Ser2043Cys) c.6062C>G (p.Ser2021Cys) c.5672C>G (p.Ser1891Cys) c.5816C>G (p.Ser1939Cys) c.5711C>G (p.Ser1904Cys) c.2117C>G (p.Ser706Cys) c.5747C>G (p.Ser1916Cys) c.6293C>G (p.Ser2098Cys) n.333+1434G>C c.5663C>G (p.Ser1888Cys) c.5108C>G (p.Ser1703Cys) c.3218C>G (p.Ser1073Cys) c.6362C>G (p.Ser2121Cys) c.6866C>G (p.Ser2289Cys) c.6761C>G (p.Ser2254Cys) c.6548C>G (p.Ser2183Cys) c.6491C>G (p.Ser2164Cys) c.6407C>G (p.Ser2136Cys) c.6392C>G (p.Ser2131Cys) c.6296C>G (p.Ser2099Cys) c.6287C>G (p.Ser2096Cys) c.6269C>G (p.Ser2090Cys) c.6263C>G (p.Ser2088Cys) c.6236C>G (p.Ser2079Cys) c.6230C>G (p.Ser2077Cys) c.6212C>G (p.Ser2071Cys) c.6206C>G (p.Ser2069Cys) c.6203C>G (p.Ser2068Cys) c.6179C>G (p.Ser2060Cys) | |
| 12 | g.2688706C>T | CA383385252 | CACNA1C,CACNA1C-AS1 | c.6119C>T (p.Ser2040Phe) c.6149C>T (p.Ser2050Phe) c.6224C>T (p.Ser2075Phe) c.6257C>T (p.Ser2086Phe) c.6086C>T (p.Ser2029Phe) c.6134C>T (p.Ser2045Phe) c.6383C>T (p.Ser2128Phe) c.6011C>T (p.Ser2004Phe) c.6044C>T (p.Ser2015Phe) c.6035C>T (p.Ser2012Phe) c.6209C>T (p.Ser2070Phe) n.2547C>T c.6188C>T (p.Ser2063Phe) c.6167C>T (p.Ser2056Phe) c.6068C>T (p.Ser2023Phe) c.6104C>T (p.Ser2035Phe) c.6101C>T (p.Ser2034Phe) c.6095C>T (p.Ser2032Phe) c.6128C>T (p.Ser2043Phe) c.6062C>T (p.Ser2021Phe) c.5672C>T (p.Ser1891Phe) c.5816C>T (p.Ser1939Phe) c.5711C>T (p.Ser1904Phe) c.2117C>T (p.Ser706Phe) c.5747C>T (p.Ser1916Phe) c.6293C>T (p.Ser2098Phe) n.333+1434G>A c.5663C>T (p.Ser1888Phe) c.5108C>T (p.Ser1703Phe) c.3218C>T (p.Ser1073Phe) c.6362C>T (p.Ser2121Phe) c.6866C>T (p.Ser2289Phe) c.6761C>T (p.Ser2254Phe) c.6548C>T (p.Ser2183Phe) c.6491C>T (p.Ser2164Phe) c.6407C>T (p.Ser2136Phe) c.6392C>T (p.Ser2131Phe) c.6296C>T (p.Ser2099Phe) c.6287C>T (p.Ser2096Phe) c.6269C>T (p.Ser2090Phe) c.6263C>T (p.Ser2088Phe) c.6236C>T (p.Ser2079Phe) c.6230C>T (p.Ser2077Phe) c.6212C>T (p.Ser2071Phe) c.6206C>T (p.Ser2069Phe) c.6203C>T (p.Ser2068Phe) c.6179C>T (p.Ser2060Phe) | |
| 12 | g.2688707C>A | CA478088270 | CACNA1C,CACNA1C-AS1 | c.6120C>A (p.Ser2040=) c.6150C>A (p.Ser2050=) c.6225C>A (p.Ser2075=) c.6258C>A (p.Ser2086=) c.6087C>A (p.Ser2029=) c.6135C>A (p.Ser2045=) c.6384C>A (p.Ser2128=) c.6012C>A (p.Ser2004=) c.6045C>A (p.Ser2015=) c.6036C>A (p.Ser2012=) c.6210C>A (p.Ser2070=) n.2548C>A c.6189C>A (p.Ser2063=) c.6168C>A (p.Ser2056=) c.6069C>A (p.Ser2023=) c.6105C>A (p.Ser2035=) c.6102C>A (p.Ser2034=) c.6096C>A (p.Ser2032=) c.6129C>A (p.Ser2043=) c.6063C>A (p.Ser2021=) c.5673C>A (p.Ser1891=) c.5817C>A (p.Ser1939=) c.5712C>A (p.Ser1904=) c.2118C>A (p.Ser706=) c.5748C>A (p.Ser1916=) c.6294C>A (p.Ser2098=) n.333+1433G>T c.5664C>A (p.Ser1888=) c.5109C>A (p.Ser1703=) c.3219C>A (p.Ser1073=) c.6363C>A (p.Ser2121=) c.6867C>A (p.Ser2289=) c.6762C>A (p.Ser2254=) c.6549C>A (p.Ser2183=) c.6492C>A (p.Ser2164=) c.6408C>A (p.Ser2136=) c.6393C>A (p.Ser2131=) c.6297C>A (p.Ser2099=) c.6288C>A (p.Ser2096=) c.6270C>A (p.Ser2090=) c.6264C>A (p.Ser2088=) c.6237C>A (p.Ser2079=) c.6231C>A (p.Ser2077=) c.6213C>A (p.Ser2071=) c.6207C>A (p.Ser2069=) c.6204C>A (p.Ser2068=) c.6180C>A (p.Ser2060=) | |
| 12 | g.2688707C= | CA2012352101 | CACNA1C,CACNA1C-AS1 | c.6120C= (p.Ser2040=) c.6150C= (p.Ser2050=) c.6225C= (p.Ser2075=) c.6258C= (p.Ser2086=) c.6087C= (p.Ser2029=) c.6135C= (p.Ser2045=) c.6384C= (p.Ser2128=) c.6012C= (p.Ser2004=) c.6045C= (p.Ser2015=) c.6036C= (p.Ser2012=) c.6210C= (p.Ser2070=) n.2548C= c.6189C= (p.Ser2063=) c.6168C= (p.Ser2056=) c.6069C= (p.Ser2023=) c.6105C= (p.Ser2035=) c.6102C= (p.Ser2034=) c.6096C= (p.Ser2032=) c.6129C= (p.Ser2043=) c.6063C= (p.Ser2021=) c.5673C= (p.Ser1891=) c.5817C= (p.Ser1939=) c.5712C= (p.Ser1904=) c.2118C= (p.Ser706=) c.5748C= (p.Ser1916=) c.6294C= (p.Ser2098=) n.333+1433G= c.5664C= (p.Ser1888=) c.5109C= (p.Ser1703=) c.3219C= (p.Ser1073=) c.6363C= (p.Ser2121=) c.6867C= (p.Ser2289=) c.6762C= (p.Ser2254=) c.6549C= (p.Ser2183=) c.6492C= (p.Ser2164=) c.6408C= (p.Ser2136=) c.6393C= (p.Ser2131=) c.6297C= (p.Ser2099=) c.6288C= (p.Ser2096=) c.6270C= (p.Ser2090=) c.6264C= (p.Ser2088=) c.6237C= (p.Ser2079=) c.6231C= (p.Ser2077=) c.6213C= (p.Ser2071=) c.6207C= (p.Ser2069=) c.6204C= (p.Ser2068=) c.6180C= (p.Ser2060=) | |
| 12 | g.2688707C>G | CA478088272 | CACNA1C,CACNA1C-AS1 | c.6120C>G (p.Ser2040=) c.6150C>G (p.Ser2050=) c.6225C>G (p.Ser2075=) c.6258C>G (p.Ser2086=) c.6087C>G (p.Ser2029=) c.6135C>G (p.Ser2045=) c.6384C>G (p.Ser2128=) c.6012C>G (p.Ser2004=) c.6045C>G (p.Ser2015=) c.6036C>G (p.Ser2012=) c.6210C>G (p.Ser2070=) n.2548C>G c.6189C>G (p.Ser2063=) c.6168C>G (p.Ser2056=) c.6069C>G (p.Ser2023=) c.6105C>G (p.Ser2035=) c.6102C>G (p.Ser2034=) c.6096C>G (p.Ser2032=) c.6129C>G (p.Ser2043=) c.6063C>G (p.Ser2021=) c.5673C>G (p.Ser1891=) c.5817C>G (p.Ser1939=) c.5712C>G (p.Ser1904=) c.2118C>G (p.Ser706=) c.5748C>G (p.Ser1916=) c.6294C>G (p.Ser2098=) n.333+1433G>C c.5664C>G (p.Ser1888=) c.5109C>G (p.Ser1703=) c.3219C>G (p.Ser1073=) c.6363C>G (p.Ser2121=) c.6867C>G (p.Ser2289=) c.6762C>G (p.Ser2254=) c.6549C>G (p.Ser2183=) c.6492C>G (p.Ser2164=) c.6408C>G (p.Ser2136=) c.6393C>G (p.Ser2131=) c.6297C>G (p.Ser2099=) c.6288C>G (p.Ser2096=) c.6270C>G (p.Ser2090=) c.6264C>G (p.Ser2088=) c.6237C>G (p.Ser2079=) c.6231C>G (p.Ser2077=) c.6213C>G (p.Ser2071=) c.6207C>G (p.Ser2069=) c.6204C>G (p.Ser2068=) c.6180C>G (p.Ser2060=) | |
| 12 | g.2688707C>T | CA6390065 | CACNA1C,CACNA1C-AS1 | c.6120C>T (p.Ser2040=) c.6150C>T (p.Ser2050=) c.6225C>T (p.Ser2075=) c.6258C>T (p.Ser2086=) c.6087C>T (p.Ser2029=) c.6135C>T (p.Ser2045=) c.6384C>T (p.Ser2128=) c.6012C>T (p.Ser2004=) c.6045C>T (p.Ser2015=) c.6036C>T (p.Ser2012=) c.6210C>T (p.Ser2070=) n.2548C>T c.6189C>T (p.Ser2063=) c.6168C>T (p.Ser2056=) c.6069C>T (p.Ser2023=) c.6105C>T (p.Ser2035=) c.6102C>T (p.Ser2034=) c.6096C>T (p.Ser2032=) c.6129C>T (p.Ser2043=) c.6063C>T (p.Ser2021=) c.5673C>T (p.Ser1891=) c.5817C>T (p.Ser1939=) c.5712C>T (p.Ser1904=) c.2118C>T (p.Ser706=) c.5748C>T (p.Ser1916=) c.6294C>T (p.Ser2098=) n.333+1433G>A c.5664C>T (p.Ser1888=) c.5109C>T (p.Ser1703=) c.3219C>T (p.Ser1073=) c.6363C>T (p.Ser2121=) c.6867C>T (p.Ser2289=) c.6762C>T (p.Ser2254=) c.6549C>T (p.Ser2183=) c.6492C>T (p.Ser2164=) c.6408C>T (p.Ser2136=) c.6393C>T (p.Ser2131=) c.6297C>T (p.Ser2099=) c.6288C>T (p.Ser2096=) c.6270C>T (p.Ser2090=) c.6264C>T (p.Ser2088=) c.6237C>T (p.Ser2079=) c.6231C>T (p.Ser2077=) c.6213C>T (p.Ser2071=) c.6207C>T (p.Ser2069=) c.6204C>T (p.Ser2068=) c.6180C>T (p.Ser2060=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.2688708C>A | CA383385255 | CACNA1C,CACNA1C-AS1 | c.6121C>A (p.Leu2041Ile) c.6151C>A (p.Leu2051Ile) c.6226C>A (p.Leu2076Ile) c.6259C>A (p.Leu2087Ile) c.6088C>A (p.Leu2030Ile) c.6136C>A (p.Leu2046Ile) c.6385C>A (p.Leu2129Ile) c.6013C>A (p.Leu2005Ile) c.6046C>A (p.Leu2016Ile) c.6037C>A (p.Leu2013Ile) c.6211C>A (p.Leu2071Ile) n.2549C>A c.6190C>A (p.Leu2064Ile) c.6169C>A (p.Leu2057Ile) c.6070C>A (p.Leu2024Ile) c.6106C>A (p.Leu2036Ile) c.6103C>A (p.Leu2035Ile) c.6097C>A (p.Leu2033Ile) c.6130C>A (p.Leu2044Ile) c.6064C>A (p.Leu2022Ile) c.5674C>A (p.Leu1892Ile) c.5818C>A (p.Leu1940Ile) c.5713C>A (p.Leu1905Ile) c.2119C>A (p.Leu707Ile) c.5749C>A (p.Leu1917Ile) c.6295C>A (p.Leu2099Ile) n.333+1432G>T c.5665C>A (p.Leu1889Ile) c.5110C>A (p.Leu1704Ile) c.3220C>A (p.Leu1074Ile) c.6364C>A (p.Leu2122Ile) c.6868C>A (p.Leu2290Ile) c.6763C>A (p.Leu2255Ile) c.6550C>A (p.Leu2184Ile) c.6493C>A (p.Leu2165Ile) c.6409C>A (p.Leu2137Ile) c.6394C>A (p.Leu2132Ile) c.6298C>A (p.Leu2100Ile) c.6289C>A (p.Leu2097Ile) c.6271C>A (p.Leu2091Ile) c.6265C>A (p.Leu2089Ile) c.6238C>A (p.Leu2080Ile) c.6232C>A (p.Leu2078Ile) c.6214C>A (p.Leu2072Ile) c.6208C>A (p.Leu2070Ile) c.6205C>A (p.Leu2069Ile) c.6181C>A (p.Leu2061Ile) | gnomAD v4 |
| 12 | g.2688708C= | CA2012352102 | CACNA1C,CACNA1C-AS1 | c.6121C= (p.Leu2041=) c.6151C= (p.Leu2051=) c.6226C= (p.Leu2076=) c.6259C= (p.Leu2087=) c.6088C= (p.Leu2030=) c.6136C= (p.Leu2046=) c.6385C= (p.Leu2129=) c.6013C= (p.Leu2005=) c.6046C= (p.Leu2016=) c.6037C= (p.Leu2013=) c.6211C= (p.Leu2071=) n.2549C= c.6190C= (p.Leu2064=) c.6169C= (p.Leu2057=) c.6070C= (p.Leu2024=) c.6106C= (p.Leu2036=) c.6103C= (p.Leu2035=) c.6097C= (p.Leu2033=) c.6130C= (p.Leu2044=) c.6064C= (p.Leu2022=) c.5674C= (p.Leu1892=) c.5818C= (p.Leu1940=) c.5713C= (p.Leu1905=) c.2119C= (p.Leu707=) c.5749C= (p.Leu1917=) c.6295C= (p.Leu2099=) n.333+1432G= c.5665C= (p.Leu1889=) c.5110C= (p.Leu1704=) c.3220C= (p.Leu1074=) c.6364C= (p.Leu2122=) c.6868C= (p.Leu2290=) c.6763C= (p.Leu2255=) c.6550C= (p.Leu2184=) c.6493C= (p.Leu2165=) c.6409C= (p.Leu2137=) c.6394C= (p.Leu2132=) c.6298C= (p.Leu2100=) c.6289C= (p.Leu2097=) c.6271C= (p.Leu2091=) c.6265C= (p.Leu2089=) c.6238C= (p.Leu2080=) c.6232C= (p.Leu2078=) c.6214C= (p.Leu2072=) c.6208C= (p.Leu2070=) c.6205C= (p.Leu2069=) c.6181C= (p.Leu2061=) | |
| 12 | g.2688708C>G | CA383385257 | CACNA1C,CACNA1C-AS1 | c.6121C>G (p.Leu2041Val) c.6151C>G (p.Leu2051Val) c.6226C>G (p.Leu2076Val) c.6259C>G (p.Leu2087Val) c.6088C>G (p.Leu2030Val) c.6136C>G (p.Leu2046Val) c.6385C>G (p.Leu2129Val) c.6013C>G (p.Leu2005Val) c.6046C>G (p.Leu2016Val) c.6037C>G (p.Leu2013Val) c.6211C>G (p.Leu2071Val) n.2549C>G c.6190C>G (p.Leu2064Val) c.6169C>G (p.Leu2057Val) c.6070C>G (p.Leu2024Val) c.6106C>G (p.Leu2036Val) c.6103C>G (p.Leu2035Val) c.6097C>G (p.Leu2033Val) c.6130C>G (p.Leu2044Val) c.6064C>G (p.Leu2022Val) c.5674C>G (p.Leu1892Val) c.5818C>G (p.Leu1940Val) c.5713C>G (p.Leu1905Val) c.2119C>G (p.Leu707Val) c.5749C>G (p.Leu1917Val) c.6295C>G (p.Leu2099Val) n.333+1432G>C c.5665C>G (p.Leu1889Val) c.5110C>G (p.Leu1704Val) c.3220C>G (p.Leu1074Val) c.6364C>G (p.Leu2122Val) c.6868C>G (p.Leu2290Val) c.6763C>G (p.Leu2255Val) c.6550C>G (p.Leu2184Val) c.6493C>G (p.Leu2165Val) c.6409C>G (p.Leu2137Val) c.6394C>G (p.Leu2132Val) c.6298C>G (p.Leu2100Val) c.6289C>G (p.Leu2097Val) c.6271C>G (p.Leu2091Val) c.6265C>G (p.Leu2089Val) c.6238C>G (p.Leu2080Val) c.6232C>G (p.Leu2078Val) c.6214C>G (p.Leu2072Val) c.6208C>G (p.Leu2070Val) c.6205C>G (p.Leu2069Val) c.6181C>G (p.Leu2061Val) | |
| 12 | g.2688708C>T | CA383385259 | CACNA1C,CACNA1C-AS1 | c.6121C>T (p.Leu2041Phe) c.6151C>T (p.Leu2051Phe) c.6226C>T (p.Leu2076Phe) c.6259C>T (p.Leu2087Phe) c.6088C>T (p.Leu2030Phe) c.6136C>T (p.Leu2046Phe) c.6385C>T (p.Leu2129Phe) c.6013C>T (p.Leu2005Phe) c.6046C>T (p.Leu2016Phe) c.6037C>T (p.Leu2013Phe) c.6211C>T (p.Leu2071Phe) n.2549C>T c.6190C>T (p.Leu2064Phe) c.6169C>T (p.Leu2057Phe) c.6070C>T (p.Leu2024Phe) c.6106C>T (p.Leu2036Phe) c.6103C>T (p.Leu2035Phe) c.6097C>T (p.Leu2033Phe) c.6130C>T (p.Leu2044Phe) c.6064C>T (p.Leu2022Phe) c.5674C>T (p.Leu1892Phe) c.5818C>T (p.Leu1940Phe) c.5713C>T (p.Leu1905Phe) c.2119C>T (p.Leu707Phe) c.5749C>T (p.Leu1917Phe) c.6295C>T (p.Leu2099Phe) n.333+1432G>A c.5665C>T (p.Leu1889Phe) c.5110C>T (p.Leu1704Phe) c.3220C>T (p.Leu1074Phe) c.6364C>T (p.Leu2122Phe) c.6868C>T (p.Leu2290Phe) c.6763C>T (p.Leu2255Phe) c.6550C>T (p.Leu2184Phe) c.6493C>T (p.Leu2165Phe) c.6409C>T (p.Leu2137Phe) c.6394C>T (p.Leu2132Phe) c.6298C>T (p.Leu2100Phe) c.6289C>T (p.Leu2097Phe) c.6271C>T (p.Leu2091Phe) c.6265C>T (p.Leu2089Phe) c.6238C>T (p.Leu2080Phe) c.6232C>T (p.Leu2078Phe) c.6214C>T (p.Leu2072Phe) c.6208C>T (p.Leu2070Phe) c.6205C>T (p.Leu2069Phe) c.6181C>T (p.Leu2061Phe) | dbSNP |
| 12 | g.2688709T>A | CA383385261 | CACNA1C,CACNA1C-AS1 | c.6122T>A (p.Leu2041His) c.6152T>A (p.Leu2051His) c.6227T>A (p.Leu2076His) c.6260T>A (p.Leu2087His) c.6089T>A (p.Leu2030His) c.6137T>A (p.Leu2046His) c.6386T>A (p.Leu2129His) c.6014T>A (p.Leu2005His) c.6047T>A (p.Leu2016His) c.6038T>A (p.Leu2013His) c.6212T>A (p.Leu2071His) n.2550T>A c.6191T>A (p.Leu2064His) c.6170T>A (p.Leu2057His) c.6071T>A (p.Leu2024His) c.6107T>A (p.Leu2036His) c.6104T>A (p.Leu2035His) c.6098T>A (p.Leu2033His) c.6131T>A (p.Leu2044His) c.6065T>A (p.Leu2022His) c.5675T>A (p.Leu1892His) c.5819T>A (p.Leu1940His) c.5714T>A (p.Leu1905His) c.2120T>A (p.Leu707His) c.5750T>A (p.Leu1917His) c.6296T>A (p.Leu2099His) n.333+1431A>T c.5666T>A (p.Leu1889His) c.5111T>A (p.Leu1704His) c.3221T>A (p.Leu1074His) c.6365T>A (p.Leu2122His) c.6869T>A (p.Leu2290His) c.6764T>A (p.Leu2255His) c.6551T>A (p.Leu2184His) c.6494T>A (p.Leu2165His) c.6410T>A (p.Leu2137His) c.6395T>A (p.Leu2132His) c.6299T>A (p.Leu2100His) c.6290T>A (p.Leu2097His) c.6272T>A (p.Leu2091His) c.6266T>A (p.Leu2089His) c.6239T>A (p.Leu2080His) c.6233T>A (p.Leu2078His) c.6215T>A (p.Leu2072His) c.6209T>A (p.Leu2070His) c.6206T>A (p.Leu2069His) c.6182T>A (p.Leu2061His) | |
| 12 | g.2688709T>C | CA383385263 | CACNA1C,CACNA1C-AS1 | c.6122T>C (p.Leu2041Pro) c.6152T>C (p.Leu2051Pro) c.6227T>C (p.Leu2076Pro) c.6260T>C (p.Leu2087Pro) c.6089T>C (p.Leu2030Pro) c.6137T>C (p.Leu2046Pro) c.6386T>C (p.Leu2129Pro) c.6014T>C (p.Leu2005Pro) c.6047T>C (p.Leu2016Pro) c.6038T>C (p.Leu2013Pro) c.6212T>C (p.Leu2071Pro) n.2550T>C c.6191T>C (p.Leu2064Pro) c.6170T>C (p.Leu2057Pro) c.6071T>C (p.Leu2024Pro) c.6107T>C (p.Leu2036Pro) c.6104T>C (p.Leu2035Pro) c.6098T>C (p.Leu2033Pro) c.6131T>C (p.Leu2044Pro) c.6065T>C (p.Leu2022Pro) c.5675T>C (p.Leu1892Pro) c.5819T>C (p.Leu1940Pro) c.5714T>C (p.Leu1905Pro) c.2120T>C (p.Leu707Pro) c.5750T>C (p.Leu1917Pro) c.6296T>C (p.Leu2099Pro) n.333+1431A>G c.5666T>C (p.Leu1889Pro) c.5111T>C (p.Leu1704Pro) c.3221T>C (p.Leu1074Pro) c.6365T>C (p.Leu2122Pro) c.6869T>C (p.Leu2290Pro) c.6764T>C (p.Leu2255Pro) c.6551T>C (p.Leu2184Pro) c.6494T>C (p.Leu2165Pro) c.6410T>C (p.Leu2137Pro) c.6395T>C (p.Leu2132Pro) c.6299T>C (p.Leu2100Pro) c.6290T>C (p.Leu2097Pro) c.6272T>C (p.Leu2091Pro) c.6266T>C (p.Leu2089Pro) c.6239T>C (p.Leu2080Pro) c.6233T>C (p.Leu2078Pro) c.6215T>C (p.Leu2072Pro) c.6209T>C (p.Leu2070Pro) c.6206T>C (p.Leu2069Pro) c.6182T>C (p.Leu2061Pro) | |
| 12 | g.2688709T>G | CA383385265 | CACNA1C,CACNA1C-AS1 | c.6122T>G (p.Leu2041Arg) c.6152T>G (p.Leu2051Arg) c.6227T>G (p.Leu2076Arg) c.6260T>G (p.Leu2087Arg) c.6089T>G (p.Leu2030Arg) c.6137T>G (p.Leu2046Arg) c.6386T>G (p.Leu2129Arg) c.6014T>G (p.Leu2005Arg) c.6047T>G (p.Leu2016Arg) c.6038T>G (p.Leu2013Arg) c.6212T>G (p.Leu2071Arg) n.2550T>G c.6191T>G (p.Leu2064Arg) c.6170T>G (p.Leu2057Arg) c.6071T>G (p.Leu2024Arg) c.6107T>G (p.Leu2036Arg) c.6104T>G (p.Leu2035Arg) c.6098T>G (p.Leu2033Arg) c.6131T>G (p.Leu2044Arg) c.6065T>G (p.Leu2022Arg) c.5675T>G (p.Leu1892Arg) c.5819T>G (p.Leu1940Arg) c.5714T>G (p.Leu1905Arg) c.2120T>G (p.Leu707Arg) c.5750T>G (p.Leu1917Arg) c.6296T>G (p.Leu2099Arg) n.333+1431A>C c.5666T>G (p.Leu1889Arg) c.5111T>G (p.Leu1704Arg) c.3221T>G (p.Leu1074Arg) c.6365T>G (p.Leu2122Arg) c.6869T>G (p.Leu2290Arg) c.6764T>G (p.Leu2255Arg) c.6551T>G (p.Leu2184Arg) c.6494T>G (p.Leu2165Arg) c.6410T>G (p.Leu2137Arg) c.6395T>G (p.Leu2132Arg) c.6299T>G (p.Leu2100Arg) c.6290T>G (p.Leu2097Arg) c.6272T>G (p.Leu2091Arg) c.6266T>G (p.Leu2089Arg) c.6239T>G (p.Leu2080Arg) c.6233T>G (p.Leu2078Arg) c.6215T>G (p.Leu2072Arg) c.6209T>G (p.Leu2070Arg) c.6206T>G (p.Leu2069Arg) c.6182T>G (p.Leu2061Arg) | dbSNP |
| 12 | g.2688709T= | CA2012352103 | CACNA1C,CACNA1C-AS1 | c.6122T= (p.Leu2041=) c.6152T= (p.Leu2051=) c.6227T= (p.Leu2076=) c.6260T= (p.Leu2087=) c.6089T= (p.Leu2030=) c.6137T= (p.Leu2046=) c.6386T= (p.Leu2129=) c.6014T= (p.Leu2005=) c.6047T= (p.Leu2016=) c.6038T= (p.Leu2013=) c.6212T= (p.Leu2071=) n.2550T= c.6191T= (p.Leu2064=) c.6170T= (p.Leu2057=) c.6071T= (p.Leu2024=) c.6107T= (p.Leu2036=) c.6104T= (p.Leu2035=) c.6098T= (p.Leu2033=) c.6131T= (p.Leu2044=) c.6065T= (p.Leu2022=) c.5675T= (p.Leu1892=) c.5819T= (p.Leu1940=) c.5714T= (p.Leu1905=) c.2120T= (p.Leu707=) c.5750T= (p.Leu1917=) c.6296T= (p.Leu2099=) n.333+1431A= c.5666T= (p.Leu1889=) c.5111T= (p.Leu1704=) c.3221T= (p.Leu1074=) c.6365T= (p.Leu2122=) c.6869T= (p.Leu2290=) c.6764T= (p.Leu2255=) c.6551T= (p.Leu2184=) c.6494T= (p.Leu2165=) c.6410T= (p.Leu2137=) c.6395T= (p.Leu2132=) c.6299T= (p.Leu2100=) c.6290T= (p.Leu2097=) c.6272T= (p.Leu2091=) c.6266T= (p.Leu2089=) c.6239T= (p.Leu2080=) c.6233T= (p.Leu2078=) c.6215T= (p.Leu2072=) c.6209T= (p.Leu2070=) c.6206T= (p.Leu2069=) c.6182T= (p.Leu2061=) | |
| 12 | g.2688710C>A | CA478088286 | CACNA1C,CACNA1C-AS1 | c.6123C>A (p.Leu2041=) c.6153C>A (p.Leu2051=) c.6228C>A (p.Leu2076=) c.6261C>A (p.Leu2087=) c.6090C>A (p.Leu2030=) c.6138C>A (p.Leu2046=) c.6387C>A (p.Leu2129=) c.6015C>A (p.Leu2005=) c.6048C>A (p.Leu2016=) c.6039C>A (p.Leu2013=) c.6213C>A (p.Leu2071=) n.2551C>A c.6192C>A (p.Leu2064=) c.6171C>A (p.Leu2057=) c.6072C>A (p.Leu2024=) c.6108C>A (p.Leu2036=) c.6105C>A (p.Leu2035=) c.6099C>A (p.Leu2033=) c.6132C>A (p.Leu2044=) c.6066C>A (p.Leu2022=) c.5676C>A (p.Leu1892=) c.5820C>A (p.Leu1940=) c.5715C>A (p.Leu1905=) c.2121C>A (p.Leu707=) c.5751C>A (p.Leu1917=) c.6297C>A (p.Leu2099=) n.333+1430G>T c.5667C>A (p.Leu1889=) c.5112C>A (p.Leu1704=) c.3222C>A (p.Leu1074=) c.6366C>A (p.Leu2122=) c.6870C>A (p.Leu2290=) c.6765C>A (p.Leu2255=) c.6552C>A (p.Leu2184=) c.6495C>A (p.Leu2165=) c.6411C>A (p.Leu2137=) c.6396C>A (p.Leu2132=) c.6300C>A (p.Leu2100=) c.6291C>A (p.Leu2097=) c.6273C>A (p.Leu2091=) c.6267C>A (p.Leu2089=) c.6240C>A (p.Leu2080=) c.6234C>A (p.Leu2078=) c.6216C>A (p.Leu2072=) c.6210C>A (p.Leu2070=) c.6207C>A (p.Leu2069=) c.6183C>A (p.Leu2061=) | |
| 12 | g.2688710C>G | CA478088283 | CACNA1C,CACNA1C-AS1 | c.6123C>G (p.Leu2041=) c.6153C>G (p.Leu2051=) c.6228C>G (p.Leu2076=) c.6261C>G (p.Leu2087=) c.6090C>G (p.Leu2030=) c.6138C>G (p.Leu2046=) c.6387C>G (p.Leu2129=) c.6015C>G (p.Leu2005=) c.6048C>G (p.Leu2016=) c.6039C>G (p.Leu2013=) c.6213C>G (p.Leu2071=) n.2551C>G c.6192C>G (p.Leu2064=) c.6171C>G (p.Leu2057=) c.6072C>G (p.Leu2024=) c.6108C>G (p.Leu2036=) c.6105C>G (p.Leu2035=) c.6099C>G (p.Leu2033=) c.6132C>G (p.Leu2044=) c.6066C>G (p.Leu2022=) c.5676C>G (p.Leu1892=) c.5820C>G (p.Leu1940=) c.5715C>G (p.Leu1905=) c.2121C>G (p.Leu707=) c.5751C>G (p.Leu1917=) c.6297C>G (p.Leu2099=) n.333+1430G>C c.5667C>G (p.Leu1889=) c.5112C>G (p.Leu1704=) c.3222C>G (p.Leu1074=) c.6366C>G (p.Leu2122=) c.6870C>G (p.Leu2290=) c.6765C>G (p.Leu2255=) c.6552C>G (p.Leu2184=) c.6495C>G (p.Leu2165=) c.6411C>G (p.Leu2137=) c.6396C>G (p.Leu2132=) c.6300C>G (p.Leu2100=) c.6291C>G (p.Leu2097=) c.6273C>G (p.Leu2091=) c.6267C>G (p.Leu2089=) c.6240C>G (p.Leu2080=) c.6234C>G (p.Leu2078=) c.6216C>G (p.Leu2072=) c.6210C>G (p.Leu2070=) c.6207C>G (p.Leu2069=) c.6183C>G (p.Leu2061=) | |
| 12 | g.2688710C>T | CA478088281 | CACNA1C,CACNA1C-AS1 | c.6123C>T (p.Leu2041=) c.6153C>T (p.Leu2051=) c.6228C>T (p.Leu2076=) c.6261C>T (p.Leu2087=) c.6090C>T (p.Leu2030=) c.6138C>T (p.Leu2046=) c.6387C>T (p.Leu2129=) c.6015C>T (p.Leu2005=) c.6048C>T (p.Leu2016=) c.6039C>T (p.Leu2013=) c.6213C>T (p.Leu2071=) n.2551C>T c.6192C>T (p.Leu2064=) c.6171C>T (p.Leu2057=) c.6072C>T (p.Leu2024=) c.6108C>T (p.Leu2036=) c.6105C>T (p.Leu2035=) c.6099C>T (p.Leu2033=) c.6132C>T (p.Leu2044=) c.6066C>T (p.Leu2022=) c.5676C>T (p.Leu1892=) c.5820C>T (p.Leu1940=) c.5715C>T (p.Leu1905=) c.2121C>T (p.Leu707=) c.5751C>T (p.Leu1917=) c.6297C>T (p.Leu2099=) n.333+1430G>A c.5667C>T (p.Leu1889=) c.5112C>T (p.Leu1704=) c.3222C>T (p.Leu1074=) c.6366C>T (p.Leu2122=) c.6870C>T (p.Leu2290=) c.6765C>T (p.Leu2255=) c.6552C>T (p.Leu2184=) c.6495C>T (p.Leu2165=) c.6411C>T (p.Leu2137=) c.6396C>T (p.Leu2132=) c.6300C>T (p.Leu2100=) c.6291C>T (p.Leu2097=) c.6273C>T (p.Leu2091=) c.6267C>T (p.Leu2089=) c.6240C>T (p.Leu2080=) c.6234C>T (p.Leu2078=) c.6216C>T (p.Leu2072=) c.6210C>T (p.Leu2070=) c.6207C>T (p.Leu2069=) c.6183C>T (p.Leu2061=) | dbSNP gnomAD v4 |
| 12 | g.2688711A>C | CA383385268 | CACNA1C,CACNA1C-AS1 | c.6124A>C (p.Met2042Leu) c.6154A>C (p.Met2052Leu) c.6229A>C (p.Met2077Leu) c.6262A>C (p.Met2088Leu) c.6091A>C (p.Met2031Leu) c.6139A>C (p.Met2047Leu) c.6388A>C (p.Met2130Leu) c.6016A>C (p.Met2006Leu) c.6049A>C (p.Met2017Leu) c.6040A>C (p.Met2014Leu) c.6214A>C (p.Met2072Leu) n.2552A>C c.6193A>C (p.Met2065Leu) c.6172A>C (p.Met2058Leu) c.6073A>C (p.Met2025Leu) c.6109A>C (p.Met2037Leu) c.6106A>C (p.Met2036Leu) c.6100A>C (p.Met2034Leu) c.6133A>C (p.Met2045Leu) c.6067A>C (p.Met2023Leu) c.5677A>C (p.Met1893Leu) c.5821A>C (p.Met1941Leu) c.5716A>C (p.Met1906Leu) c.2122A>C (p.Met708Leu) c.5752A>C (p.Met1918Leu) c.6298A>C (p.Met2100Leu) n.333+1429T>G c.5668A>C (p.Met1890Leu) c.5113A>C (p.Met1705Leu) c.3223A>C (p.Met1075Leu) c.6367A>C (p.Met2123Leu) c.6871A>C (p.Met2291Leu) c.6766A>C (p.Met2256Leu) c.6553A>C (p.Met2185Leu) c.6496A>C (p.Met2166Leu) c.6412A>C (p.Met2138Leu) c.6397A>C (p.Met2133Leu) c.6301A>C (p.Met2101Leu) c.6292A>C (p.Met2098Leu) c.6274A>C (p.Met2092Leu) c.6268A>C (p.Met2090Leu) c.6241A>C (p.Met2081Leu) c.6235A>C (p.Met2079Leu) c.6217A>C (p.Met2073Leu) c.6211A>C (p.Met2071Leu) c.6208A>C (p.Met2070Leu) c.6184A>C (p.Met2062Leu) | ClinVar |
| 12 | g.2688711A>G | CA383385270 | CACNA1C,CACNA1C-AS1 | c.6124A>G (p.Met2042Val) c.6154A>G (p.Met2052Val) c.6229A>G (p.Met2077Val) c.6262A>G (p.Met2088Val) c.6091A>G (p.Met2031Val) c.6139A>G (p.Met2047Val) c.6388A>G (p.Met2130Val) c.6016A>G (p.Met2006Val) c.6049A>G (p.Met2017Val) c.6040A>G (p.Met2014Val) c.6214A>G (p.Met2072Val) n.2552A>G c.6193A>G (p.Met2065Val) c.6172A>G (p.Met2058Val) c.6073A>G (p.Met2025Val) c.6109A>G (p.Met2037Val) c.6106A>G (p.Met2036Val) c.6100A>G (p.Met2034Val) c.6133A>G (p.Met2045Val) c.6067A>G (p.Met2023Val) c.5677A>G (p.Met1893Val) c.5821A>G (p.Met1941Val) c.5716A>G (p.Met1906Val) c.2122A>G (p.Met708Val) c.5752A>G (p.Met1918Val) c.6298A>G (p.Met2100Val) n.333+1429T>C c.5668A>G (p.Met1890Val) c.5113A>G (p.Met1705Val) c.3223A>G (p.Met1075Val) c.6367A>G (p.Met2123Val) c.6871A>G (p.Met2291Val) c.6766A>G (p.Met2256Val) c.6553A>G (p.Met2185Val) c.6496A>G (p.Met2166Val) c.6412A>G (p.Met2138Val) c.6397A>G (p.Met2133Val) c.6301A>G (p.Met2101Val) c.6292A>G (p.Met2098Val) c.6274A>G (p.Met2092Val) c.6268A>G (p.Met2090Val) c.6241A>G (p.Met2081Val) c.6235A>G (p.Met2079Val) c.6217A>G (p.Met2073Val) c.6211A>G (p.Met2071Val) c.6208A>G (p.Met2070Val) c.6184A>G (p.Met2062Val) | |
| 12 | g.2688711A>T | CA383385266 | CACNA1C,CACNA1C-AS1 | c.6124A>T (p.Met2042Leu) c.6154A>T (p.Met2052Leu) c.6229A>T (p.Met2077Leu) c.6262A>T (p.Met2088Leu) c.6091A>T (p.Met2031Leu) c.6139A>T (p.Met2047Leu) c.6388A>T (p.Met2130Leu) c.6016A>T (p.Met2006Leu) c.6049A>T (p.Met2017Leu) c.6040A>T (p.Met2014Leu) c.6214A>T (p.Met2072Leu) n.2552A>T c.6193A>T (p.Met2065Leu) c.6172A>T (p.Met2058Leu) c.6073A>T (p.Met2025Leu) c.6109A>T (p.Met2037Leu) c.6106A>T (p.Met2036Leu) c.6100A>T (p.Met2034Leu) c.6133A>T (p.Met2045Leu) c.6067A>T (p.Met2023Leu) c.5677A>T (p.Met1893Leu) c.5821A>T (p.Met1941Leu) c.5716A>T (p.Met1906Leu) c.2122A>T (p.Met708Leu) c.5752A>T (p.Met1918Leu) c.6298A>T (p.Met2100Leu) n.333+1429T>A c.5668A>T (p.Met1890Leu) c.5113A>T (p.Met1705Leu) c.3223A>T (p.Met1075Leu) c.6367A>T (p.Met2123Leu) c.6871A>T (p.Met2291Leu) c.6766A>T (p.Met2256Leu) c.6553A>T (p.Met2185Leu) c.6496A>T (p.Met2166Leu) c.6412A>T (p.Met2138Leu) c.6397A>T (p.Met2133Leu) c.6301A>T (p.Met2101Leu) c.6292A>T (p.Met2098Leu) c.6274A>T (p.Met2092Leu) c.6268A>T (p.Met2090Leu) c.6241A>T (p.Met2081Leu) c.6235A>T (p.Met2079Leu) c.6217A>T (p.Met2073Leu) c.6211A>T (p.Met2071Leu) c.6208A>T (p.Met2070Leu) c.6184A>T (p.Met2062Leu) | |
| 12 | g.2688712T>A | CA383385272 | CACNA1C,CACNA1C-AS1 | c.6125T>A (p.Met2042Lys) c.6155T>A (p.Met2052Lys) c.6230T>A (p.Met2077Lys) c.6263T>A (p.Met2088Lys) c.6092T>A (p.Met2031Lys) c.6140T>A (p.Met2047Lys) c.6389T>A (p.Met2130Lys) c.6017T>A (p.Met2006Lys) c.6050T>A (p.Met2017Lys) c.6041T>A (p.Met2014Lys) c.6215T>A (p.Met2072Lys) n.2553T>A c.6194T>A (p.Met2065Lys) c.6173T>A (p.Met2058Lys) c.6074T>A (p.Met2025Lys) c.6110T>A (p.Met2037Lys) c.6107T>A (p.Met2036Lys) c.6101T>A (p.Met2034Lys) c.6134T>A (p.Met2045Lys) c.6068T>A (p.Met2023Lys) c.5678T>A (p.Met1893Lys) c.5822T>A (p.Met1941Lys) c.5717T>A (p.Met1906Lys) c.2123T>A (p.Met708Lys) c.5753T>A (p.Met1918Lys) c.6299T>A (p.Met2100Lys) n.333+1428A>T c.5669T>A (p.Met1890Lys) c.5114T>A (p.Met1705Lys) c.3224T>A (p.Met1075Lys) c.6368T>A (p.Met2123Lys) c.6872T>A (p.Met2291Lys) c.6767T>A (p.Met2256Lys) c.6554T>A (p.Met2185Lys) c.6497T>A (p.Met2166Lys) c.6413T>A (p.Met2138Lys) c.6398T>A (p.Met2133Lys) c.6302T>A (p.Met2101Lys) c.6293T>A (p.Met2098Lys) c.6275T>A (p.Met2092Lys) c.6269T>A (p.Met2090Lys) c.6242T>A (p.Met2081Lys) c.6236T>A (p.Met2079Lys) c.6218T>A (p.Met2073Lys) c.6212T>A (p.Met2071Lys) c.6209T>A (p.Met2070Lys) c.6185T>A (p.Met2062Lys) | |
| 12 | g.2688712T>C | CA301204 | CACNA1C,CACNA1C-AS1 | c.6125T>C (p.Met2042Thr) c.6155T>C (p.Met2052Thr) c.6230T>C (p.Met2077Thr) c.6263T>C (p.Met2088Thr) c.6092T>C (p.Met2031Thr) c.6140T>C (p.Met2047Thr) c.6389T>C (p.Met2130Thr) c.6017T>C (p.Met2006Thr) c.6050T>C (p.Met2017Thr) c.6041T>C (p.Met2014Thr) c.6215T>C (p.Met2072Thr) n.2553T>C c.6194T>C (p.Met2065Thr) c.6173T>C (p.Met2058Thr) c.6074T>C (p.Met2025Thr) c.6110T>C (p.Met2037Thr) c.6107T>C (p.Met2036Thr) c.6101T>C (p.Met2034Thr) c.6134T>C (p.Met2045Thr) c.6068T>C (p.Met2023Thr) c.5678T>C (p.Met1893Thr) c.5822T>C (p.Met1941Thr) c.5717T>C (p.Met1906Thr) c.2123T>C (p.Met708Thr) c.5753T>C (p.Met1918Thr) c.6299T>C (p.Met2100Thr) n.333+1428A>G c.5669T>C (p.Met1890Thr) c.5114T>C (p.Met1705Thr) c.3224T>C (p.Met1075Thr) c.6368T>C (p.Met2123Thr) c.6872T>C (p.Met2291Thr) c.6767T>C (p.Met2256Thr) c.6554T>C (p.Met2185Thr) c.6497T>C (p.Met2166Thr) c.6413T>C (p.Met2138Thr) c.6398T>C (p.Met2133Thr) c.6302T>C (p.Met2101Thr) c.6293T>C (p.Met2098Thr) c.6275T>C (p.Met2092Thr) c.6269T>C (p.Met2090Thr) c.6242T>C (p.Met2081Thr) c.6236T>C (p.Met2079Thr) c.6218T>C (p.Met2073Thr) c.6212T>C (p.Met2071Thr) c.6209T>C (p.Met2070Thr) c.6185T>C (p.Met2062Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.2688712T>G | CA383385275 | CACNA1C,CACNA1C-AS1 | c.6125T>G (p.Met2042Arg) c.6155T>G (p.Met2052Arg) c.6230T>G (p.Met2077Arg) c.6263T>G (p.Met2088Arg) c.6092T>G (p.Met2031Arg) c.6140T>G (p.Met2047Arg) c.6389T>G (p.Met2130Arg) c.6017T>G (p.Met2006Arg) c.6050T>G (p.Met2017Arg) c.6041T>G (p.Met2014Arg) c.6215T>G (p.Met2072Arg) n.2553T>G c.6194T>G (p.Met2065Arg) c.6173T>G (p.Met2058Arg) c.6074T>G (p.Met2025Arg) c.6110T>G (p.Met2037Arg) c.6107T>G (p.Met2036Arg) c.6101T>G (p.Met2034Arg) c.6134T>G (p.Met2045Arg) c.6068T>G (p.Met2023Arg) c.5678T>G (p.Met1893Arg) c.5822T>G (p.Met1941Arg) c.5717T>G (p.Met1906Arg) c.2123T>G (p.Met708Arg) c.5753T>G (p.Met1918Arg) c.6299T>G (p.Met2100Arg) n.333+1428A>C c.5669T>G (p.Met1890Arg) c.5114T>G (p.Met1705Arg) c.3224T>G (p.Met1075Arg) c.6368T>G (p.Met2123Arg) c.6872T>G (p.Met2291Arg) c.6767T>G (p.Met2256Arg) c.6554T>G (p.Met2185Arg) c.6497T>G (p.Met2166Arg) c.6413T>G (p.Met2138Arg) c.6398T>G (p.Met2133Arg) c.6302T>G (p.Met2101Arg) c.6293T>G (p.Met2098Arg) c.6275T>G (p.Met2092Arg) c.6269T>G (p.Met2090Arg) c.6242T>G (p.Met2081Arg) c.6236T>G (p.Met2079Arg) c.6218T>G (p.Met2073Arg) c.6212T>G (p.Met2071Arg) c.6209T>G (p.Met2070Arg) c.6185T>G (p.Met2062Arg) | |
| 12 | g.2688712T= | CA2012352104 | CACNA1C,CACNA1C-AS1 | c.6125T= (p.Met2042=) c.6155T= (p.Met2052=) c.6230T= (p.Met2077=) c.6263T= (p.Met2088=) c.6092T= (p.Met2031=) c.6140T= (p.Met2047=) c.6389T= (p.Met2130=) c.6017T= (p.Met2006=) c.6050T= (p.Met2017=) c.6041T= (p.Met2014=) c.6215T= (p.Met2072=) n.2553T= c.6194T= (p.Met2065=) c.6173T= (p.Met2058=) c.6074T= (p.Met2025=) c.6110T= (p.Met2037=) c.6107T= (p.Met2036=) c.6101T= (p.Met2034=) c.6134T= (p.Met2045=) c.6068T= (p.Met2023=) c.5678T= (p.Met1893=) c.5822T= (p.Met1941=) c.5717T= (p.Met1906=) c.2123T= (p.Met708=) c.5753T= (p.Met1918=) c.6299T= (p.Met2100=) n.333+1428A= c.5669T= (p.Met1890=) c.5114T= (p.Met1705=) c.3224T= (p.Met1075=) c.6368T= (p.Met2123=) c.6872T= (p.Met2291=) c.6767T= (p.Met2256=) c.6554T= (p.Met2185=) c.6497T= (p.Met2166=) c.6413T= (p.Met2138=) c.6398T= (p.Met2133=) c.6302T= (p.Met2101=) c.6293T= (p.Met2098=) c.6275T= (p.Met2092=) c.6269T= (p.Met2090=) c.6242T= (p.Met2081=) c.6236T= (p.Met2079=) c.6218T= (p.Met2073=) c.6212T= (p.Met2071=) c.6209T= (p.Met2070=) c.6185T= (p.Met2062=) | |
| 12 | g.2688713G>A | CA383385276 | CACNA1C,CACNA1C-AS1 | c.6126G>A (p.Met2042Ile) c.6156G>A (p.Met2052Ile) c.6231G>A (p.Met2077Ile) c.6264G>A (p.Met2088Ile) c.6093G>A (p.Met2031Ile) c.6141G>A (p.Met2047Ile) c.6390G>A (p.Met2130Ile) c.6018G>A (p.Met2006Ile) c.6051G>A (p.Met2017Ile) c.6042G>A (p.Met2014Ile) c.6216G>A (p.Met2072Ile) n.2554G>A c.6195G>A (p.Met2065Ile) c.6174G>A (p.Met2058Ile) c.6075G>A (p.Met2025Ile) c.6111G>A (p.Met2037Ile) c.6108G>A (p.Met2036Ile) c.6102G>A (p.Met2034Ile) c.6135G>A (p.Met2045Ile) c.6069G>A (p.Met2023Ile) c.5679G>A (p.Met1893Ile) c.5823G>A (p.Met1941Ile) c.5718G>A (p.Met1906Ile) c.2124G>A (p.Met708Ile) c.5754G>A (p.Met1918Ile) c.6300G>A (p.Met2100Ile) n.333+1427C>T c.5670G>A (p.Met1890Ile) c.5115G>A (p.Met1705Ile) c.3225G>A (p.Met1075Ile) c.6369G>A (p.Met2123Ile) c.6873G>A (p.Met2291Ile) c.6768G>A (p.Met2256Ile) c.6555G>A (p.Met2185Ile) c.6498G>A (p.Met2166Ile) c.6414G>A (p.Met2138Ile) c.6399G>A (p.Met2133Ile) c.6303G>A (p.Met2101Ile) c.6294G>A (p.Met2098Ile) c.6276G>A (p.Met2092Ile) c.6270G>A (p.Met2090Ile) c.6243G>A (p.Met2081Ile) c.6237G>A (p.Met2079Ile) c.6219G>A (p.Met2073Ile) c.6213G>A (p.Met2071Ile) c.6210G>A (p.Met2070Ile) c.6186G>A (p.Met2062Ile) | |
| 12 | g.2688713G>C | CA383385278 | CACNA1C,CACNA1C-AS1 | c.6126G>C (p.Met2042Ile) c.6156G>C (p.Met2052Ile) c.6231G>C (p.Met2077Ile) c.6264G>C (p.Met2088Ile) c.6093G>C (p.Met2031Ile) c.6141G>C (p.Met2047Ile) c.6390G>C (p.Met2130Ile) c.6018G>C (p.Met2006Ile) c.6051G>C (p.Met2017Ile) c.6042G>C (p.Met2014Ile) c.6216G>C (p.Met2072Ile) n.2554G>C c.6195G>C (p.Met2065Ile) c.6174G>C (p.Met2058Ile) c.6075G>C (p.Met2025Ile) c.6111G>C (p.Met2037Ile) c.6108G>C (p.Met2036Ile) c.6102G>C (p.Met2034Ile) c.6135G>C (p.Met2045Ile) c.6069G>C (p.Met2023Ile) c.5679G>C (p.Met1893Ile) c.5823G>C (p.Met1941Ile) c.5718G>C (p.Met1906Ile) c.2124G>C (p.Met708Ile) c.5754G>C (p.Met1918Ile) c.6300G>C (p.Met2100Ile) n.333+1427C>G c.5670G>C (p.Met1890Ile) c.5115G>C (p.Met1705Ile) c.3225G>C (p.Met1075Ile) c.6369G>C (p.Met2123Ile) c.6873G>C (p.Met2291Ile) c.6768G>C (p.Met2256Ile) c.6555G>C (p.Met2185Ile) c.6498G>C (p.Met2166Ile) c.6414G>C (p.Met2138Ile) c.6399G>C (p.Met2133Ile) c.6303G>C (p.Met2101Ile) c.6294G>C (p.Met2098Ile) c.6276G>C (p.Met2092Ile) c.6270G>C (p.Met2090Ile) c.6243G>C (p.Met2081Ile) c.6237G>C (p.Met2079Ile) c.6219G>C (p.Met2073Ile) c.6213G>C (p.Met2071Ile) c.6210G>C (p.Met2070Ile) c.6186G>C (p.Met2062Ile) | |
| 12 | g.2688713G>T | CA383385280 | CACNA1C,CACNA1C-AS1 | c.6126G>T (p.Met2042Ile) c.6156G>T (p.Met2052Ile) c.6231G>T (p.Met2077Ile) c.6264G>T (p.Met2088Ile) c.6093G>T (p.Met2031Ile) c.6141G>T (p.Met2047Ile) c.6390G>T (p.Met2130Ile) c.6018G>T (p.Met2006Ile) c.6051G>T (p.Met2017Ile) c.6042G>T (p.Met2014Ile) c.6216G>T (p.Met2072Ile) n.2554G>T c.6195G>T (p.Met2065Ile) c.6174G>T (p.Met2058Ile) c.6075G>T (p.Met2025Ile) c.6111G>T (p.Met2037Ile) c.6108G>T (p.Met2036Ile) c.6102G>T (p.Met2034Ile) c.6135G>T (p.Met2045Ile) c.6069G>T (p.Met2023Ile) c.5679G>T (p.Met1893Ile) c.5823G>T (p.Met1941Ile) c.5718G>T (p.Met1906Ile) c.2124G>T (p.Met708Ile) c.5754G>T (p.Met1918Ile) c.6300G>T (p.Met2100Ile) n.333+1427C>A c.5670G>T (p.Met1890Ile) c.5115G>T (p.Met1705Ile) c.3225G>T (p.Met1075Ile) c.6369G>T (p.Met2123Ile) c.6873G>T (p.Met2291Ile) c.6768G>T (p.Met2256Ile) c.6555G>T (p.Met2185Ile) c.6498G>T (p.Met2166Ile) c.6414G>T (p.Met2138Ile) c.6399G>T (p.Met2133Ile) c.6303G>T (p.Met2101Ile) c.6294G>T (p.Met2098Ile) c.6276G>T (p.Met2092Ile) c.6270G>T (p.Met2090Ile) c.6243G>T (p.Met2081Ile) c.6237G>T (p.Met2079Ile) c.6219G>T (p.Met2073Ile) c.6213G>T (p.Met2071Ile) c.6210G>T (p.Met2070Ile) c.6186G>T (p.Met2062Ile) | |
| 12 | g.2688714G>A | CA383385282 | CACNA1C,CACNA1C-AS1 | c.6127G>A (p.Val2043Met) c.6157G>A (p.Val2053Met) c.6232G>A (p.Val2078Met) c.6265G>A (p.Val2089Met) c.6094G>A (p.Val2032Met) c.6142G>A (p.Val2048Met) c.6391G>A (p.Val2131Met) c.6019G>A (p.Val2007Met) c.6052G>A (p.Val2018Met) c.6043G>A (p.Val2015Met) c.6217G>A (p.Val2073Met) n.2555G>A c.6196G>A (p.Val2066Met) c.6175G>A (p.Val2059Met) c.6076G>A (p.Val2026Met) c.6112G>A (p.Val2038Met) c.6109G>A (p.Val2037Met) c.6103G>A (p.Val2035Met) c.6136G>A (p.Val2046Met) c.6070G>A (p.Val2024Met) c.5680G>A (p.Val1894Met) c.5824G>A (p.Val1942Met) c.5719G>A (p.Val1907Met) c.2125G>A (p.Val709Met) c.5755G>A (p.Val1919Met) c.6301G>A (p.Val2101Met) n.333+1426C>T c.5671G>A (p.Val1891Met) c.5116G>A (p.Val1706Met) c.3226G>A (p.Val1076Met) c.6370G>A (p.Val2124Met) c.6874G>A (p.Val2292Met) c.6769G>A (p.Val2257Met) c.6556G>A (p.Val2186Met) c.6499G>A (p.Val2167Met) c.6415G>A (p.Val2139Met) c.6400G>A (p.Val2134Met) c.6304G>A (p.Val2102Met) c.6295G>A (p.Val2099Met) c.6277G>A (p.Val2093Met) c.6271G>A (p.Val2091Met) c.6244G>A (p.Val2082Met) c.6238G>A (p.Val2080Met) c.6220G>A (p.Val2074Met) c.6214G>A (p.Val2072Met) c.6211G>A (p.Val2071Met) c.6187G>A (p.Val2063Met) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 12 | g.2688714G>C | CA383385283 | CACNA1C,CACNA1C-AS1 | c.6127G>C (p.Val2043Leu) c.6157G>C (p.Val2053Leu) c.6232G>C (p.Val2078Leu) c.6265G>C (p.Val2089Leu) c.6094G>C (p.Val2032Leu) c.6142G>C (p.Val2048Leu) c.6391G>C (p.Val2131Leu) c.6019G>C (p.Val2007Leu) c.6052G>C (p.Val2018Leu) c.6043G>C (p.Val2015Leu) c.6217G>C (p.Val2073Leu) n.2555G>C c.6196G>C (p.Val2066Leu) c.6175G>C (p.Val2059Leu) c.6076G>C (p.Val2026Leu) c.6112G>C (p.Val2038Leu) c.6109G>C (p.Val2037Leu) c.6103G>C (p.Val2035Leu) c.6136G>C (p.Val2046Leu) c.6070G>C (p.Val2024Leu) c.5680G>C (p.Val1894Leu) c.5824G>C (p.Val1942Leu) c.5719G>C (p.Val1907Leu) c.2125G>C (p.Val709Leu) c.5755G>C (p.Val1919Leu) c.6301G>C (p.Val2101Leu) n.333+1426C>G c.5671G>C (p.Val1891Leu) c.5116G>C (p.Val1706Leu) c.3226G>C (p.Val1076Leu) c.6370G>C (p.Val2124Leu) c.6874G>C (p.Val2292Leu) c.6769G>C (p.Val2257Leu) c.6556G>C (p.Val2186Leu) c.6499G>C (p.Val2167Leu) c.6415G>C (p.Val2139Leu) c.6400G>C (p.Val2134Leu) c.6304G>C (p.Val2102Leu) c.6295G>C (p.Val2099Leu) c.6277G>C (p.Val2093Leu) c.6271G>C (p.Val2091Leu) c.6244G>C (p.Val2082Leu) c.6238G>C (p.Val2080Leu) c.6220G>C (p.Val2074Leu) c.6214G>C (p.Val2072Leu) c.6211G>C (p.Val2071Leu) c.6187G>C (p.Val2063Leu) | gnomAD v4 |
| 12 | g.2688714G= | CA2012352105 | CACNA1C,CACNA1C-AS1 | c.6127G= (p.Val2043=) c.6157G= (p.Val2053=) c.6232G= (p.Val2078=) c.6265G= (p.Val2089=) c.6094G= (p.Val2032=) c.6142G= (p.Val2048=) c.6391G= (p.Val2131=) c.6019G= (p.Val2007=) c.6052G= (p.Val2018=) c.6043G= (p.Val2015=) c.6217G= (p.Val2073=) n.2555G= c.6196G= (p.Val2066=) c.6175G= (p.Val2059=) c.6076G= (p.Val2026=) c.6112G= (p.Val2038=) c.6109G= (p.Val2037=) c.6103G= (p.Val2035=) c.6136G= (p.Val2046=) c.6070G= (p.Val2024=) c.5680G= (p.Val1894=) c.5824G= (p.Val1942=) c.5719G= (p.Val1907=) c.2125G= (p.Val709=) c.5755G= (p.Val1919=) c.6301G= (p.Val2101=) n.333+1426C= c.5671G= (p.Val1891=) c.5116G= (p.Val1706=) c.3226G= (p.Val1076=) c.6370G= (p.Val2124=) c.6874G= (p.Val2292=) c.6769G= (p.Val2257=) c.6556G= (p.Val2186=) c.6499G= (p.Val2167=) c.6415G= (p.Val2139=) c.6400G= (p.Val2134=) c.6304G= (p.Val2102=) c.6295G= (p.Val2099=) c.6277G= (p.Val2093=) c.6271G= (p.Val2091=) c.6244G= (p.Val2082=) c.6238G= (p.Val2080=) c.6220G= (p.Val2074=) c.6214G= (p.Val2072=) c.6211G= (p.Val2071=) c.6187G= (p.Val2063=) | |
| 12 | g.2688714G>T | CA383385284 | CACNA1C,CACNA1C-AS1 | c.6127G>T (p.Val2043Leu) c.6157G>T (p.Val2053Leu) c.6232G>T (p.Val2078Leu) c.6265G>T (p.Val2089Leu) c.6094G>T (p.Val2032Leu) c.6142G>T (p.Val2048Leu) c.6391G>T (p.Val2131Leu) c.6019G>T (p.Val2007Leu) c.6052G>T (p.Val2018Leu) c.6043G>T (p.Val2015Leu) c.6217G>T (p.Val2073Leu) n.2555G>T c.6196G>T (p.Val2066Leu) c.6175G>T (p.Val2059Leu) c.6076G>T (p.Val2026Leu) c.6112G>T (p.Val2038Leu) c.6109G>T (p.Val2037Leu) c.6103G>T (p.Val2035Leu) c.6136G>T (p.Val2046Leu) c.6070G>T (p.Val2024Leu) c.5680G>T (p.Val1894Leu) c.5824G>T (p.Val1942Leu) c.5719G>T (p.Val1907Leu) c.2125G>T (p.Val709Leu) c.5755G>T (p.Val1919Leu) c.6301G>T (p.Val2101Leu) n.333+1426C>A c.5671G>T (p.Val1891Leu) c.5116G>T (p.Val1706Leu) c.3226G>T (p.Val1076Leu) c.6370G>T (p.Val2124Leu) c.6874G>T (p.Val2292Leu) c.6769G>T (p.Val2257Leu) c.6556G>T (p.Val2186Leu) c.6499G>T (p.Val2167Leu) c.6415G>T (p.Val2139Leu) c.6400G>T (p.Val2134Leu) c.6304G>T (p.Val2102Leu) c.6295G>T (p.Val2099Leu) c.6277G>T (p.Val2093Leu) c.6271G>T (p.Val2091Leu) c.6244G>T (p.Val2082Leu) c.6238G>T (p.Val2080Leu) c.6220G>T (p.Val2074Leu) c.6214G>T (p.Val2072Leu) c.6211G>T (p.Val2071Leu) c.6187G>T (p.Val2063Leu) | |
| 12 | g.2688715T>A | CA383385285 | CACNA1C,CACNA1C-AS1 | c.6128T>A (p.Val2043Glu) c.6158T>A (p.Val2053Glu) c.6233T>A (p.Val2078Glu) c.6266T>A (p.Val2089Glu) c.6095T>A (p.Val2032Glu) c.6143T>A (p.Val2048Glu) c.6392T>A (p.Val2131Glu) c.6020T>A (p.Val2007Glu) c.6053T>A (p.Val2018Glu) c.6044T>A (p.Val2015Glu) c.6218T>A (p.Val2073Glu) n.2556T>A c.6197T>A (p.Val2066Glu) c.6176T>A (p.Val2059Glu) c.6077T>A (p.Val2026Glu) c.6113T>A (p.Val2038Glu) c.6110T>A (p.Val2037Glu) c.6104T>A (p.Val2035Glu) c.6137T>A (p.Val2046Glu) c.6071T>A (p.Val2024Glu) c.5681T>A (p.Val1894Glu) c.5825T>A (p.Val1942Glu) c.5720T>A (p.Val1907Glu) c.2126T>A (p.Val709Glu) c.5756T>A (p.Val1919Glu) c.6302T>A (p.Val2101Glu) n.333+1425A>T c.5672T>A (p.Val1891Glu) c.5117T>A (p.Val1706Glu) c.3227T>A (p.Val1076Glu) c.6371T>A (p.Val2124Glu) c.6875T>A (p.Val2292Glu) c.6770T>A (p.Val2257Glu) c.6557T>A (p.Val2186Glu) c.6500T>A (p.Val2167Glu) c.6416T>A (p.Val2139Glu) c.6401T>A (p.Val2134Glu) c.6305T>A (p.Val2102Glu) c.6296T>A (p.Val2099Glu) c.6278T>A (p.Val2093Glu) c.6272T>A (p.Val2091Glu) c.6245T>A (p.Val2082Glu) c.6239T>A (p.Val2080Glu) c.6221T>A (p.Val2074Glu) c.6215T>A (p.Val2072Glu) c.6212T>A (p.Val2071Glu) c.6188T>A (p.Val2063Glu) | |
| 12 | g.2688715T>C | CA383385286 | CACNA1C,CACNA1C-AS1 | c.6128T>C (p.Val2043Ala) c.6158T>C (p.Val2053Ala) c.6233T>C (p.Val2078Ala) c.6266T>C (p.Val2089Ala) c.6095T>C (p.Val2032Ala) c.6143T>C (p.Val2048Ala) c.6392T>C (p.Val2131Ala) c.6020T>C (p.Val2007Ala) c.6053T>C (p.Val2018Ala) c.6044T>C (p.Val2015Ala) c.6218T>C (p.Val2073Ala) n.2556T>C c.6197T>C (p.Val2066Ala) c.6176T>C (p.Val2059Ala) c.6077T>C (p.Val2026Ala) c.6113T>C (p.Val2038Ala) c.6110T>C (p.Val2037Ala) c.6104T>C (p.Val2035Ala) c.6137T>C (p.Val2046Ala) c.6071T>C (p.Val2024Ala) c.5681T>C (p.Val1894Ala) c.5825T>C (p.Val1942Ala) c.5720T>C (p.Val1907Ala) c.2126T>C (p.Val709Ala) c.5756T>C (p.Val1919Ala) c.6302T>C (p.Val2101Ala) n.333+1425A>G c.5672T>C (p.Val1891Ala) c.5117T>C (p.Val1706Ala) c.3227T>C (p.Val1076Ala) c.6371T>C (p.Val2124Ala) c.6875T>C (p.Val2292Ala) c.6770T>C (p.Val2257Ala) c.6557T>C (p.Val2186Ala) c.6500T>C (p.Val2167Ala) c.6416T>C (p.Val2139Ala) c.6401T>C (p.Val2134Ala) c.6305T>C (p.Val2102Ala) c.6296T>C (p.Val2099Ala) c.6278T>C (p.Val2093Ala) c.6272T>C (p.Val2091Ala) c.6245T>C (p.Val2082Ala) c.6239T>C (p.Val2080Ala) c.6221T>C (p.Val2074Ala) c.6215T>C (p.Val2072Ala) c.6212T>C (p.Val2071Ala) c.6188T>C (p.Val2063Ala) | |
| 12 | g.2688715T>G | CA383385287 | CACNA1C,CACNA1C-AS1 | c.6128T>G (p.Val2043Gly) c.6158T>G (p.Val2053Gly) c.6233T>G (p.Val2078Gly) c.6266T>G (p.Val2089Gly) c.6095T>G (p.Val2032Gly) c.6143T>G (p.Val2048Gly) c.6392T>G (p.Val2131Gly) c.6020T>G (p.Val2007Gly) c.6053T>G (p.Val2018Gly) c.6044T>G (p.Val2015Gly) c.6218T>G (p.Val2073Gly) n.2556T>G c.6197T>G (p.Val2066Gly) c.6176T>G (p.Val2059Gly) c.6077T>G (p.Val2026Gly) c.6113T>G (p.Val2038Gly) c.6110T>G (p.Val2037Gly) c.6104T>G (p.Val2035Gly) c.6137T>G (p.Val2046Gly) c.6071T>G (p.Val2024Gly) c.5681T>G (p.Val1894Gly) c.5825T>G (p.Val1942Gly) c.5720T>G (p.Val1907Gly) c.2126T>G (p.Val709Gly) c.5756T>G (p.Val1919Gly) c.6302T>G (p.Val2101Gly) n.333+1425A>C c.5672T>G (p.Val1891Gly) c.5117T>G (p.Val1706Gly) c.3227T>G (p.Val1076Gly) c.6371T>G (p.Val2124Gly) c.6875T>G (p.Val2292Gly) c.6770T>G (p.Val2257Gly) c.6557T>G (p.Val2186Gly) c.6500T>G (p.Val2167Gly) c.6416T>G (p.Val2139Gly) c.6401T>G (p.Val2134Gly) c.6305T>G (p.Val2102Gly) c.6296T>G (p.Val2099Gly) c.6278T>G (p.Val2093Gly) c.6272T>G (p.Val2091Gly) c.6245T>G (p.Val2082Gly) c.6239T>G (p.Val2080Gly) c.6221T>G (p.Val2074Gly) c.6215T>G (p.Val2072Gly) c.6212T>G (p.Val2071Gly) c.6188T>G (p.Val2063Gly) |