| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.2688693G>T | CA6390058 | CACNA1C,CACNA1C-AS1 | c.6106G>T (p.Val2036Phe) c.6136G>T (p.Val2046Phe) c.6211G>T (p.Val2071Phe) c.6244G>T (p.Val2082Phe) c.6073G>T (p.Val2025Phe) c.6121G>T (p.Val2041Phe) c.6370G>T (p.Val2124Phe) c.5998G>T (p.Val2000Phe) c.6031G>T (p.Val2011Phe) c.6022G>T (p.Val2008Phe) c.6196G>T (p.Val2066Phe) n.2534G>T c.6175G>T (p.Val2059Phe) c.6154G>T (p.Val2052Phe) c.6055G>T (p.Val2019Phe) c.6091G>T (p.Val2031Phe) c.6088G>T (p.Val2030Phe) c.6082G>T (p.Val2028Phe) c.6115G>T (p.Val2039Phe) c.6049G>T (p.Val2017Phe) c.5659G>T (p.Val1887Phe) c.5803G>T (p.Val1935Phe) c.5698G>T (p.Val1900Phe) c.2104G>T (p.Val702Phe) c.5734G>T (p.Val1912Phe) c.6280G>T (p.Val2094Phe) n.333+1447C>A c.5650G>T (p.Val1884Phe) c.5095G>T (p.Val1699Phe) c.3205G>T (p.Val1069Phe) c.6349G>T (p.Val2117Phe) c.6853G>T (p.Val2285Phe) c.6748G>T (p.Val2250Phe) c.6535G>T (p.Val2179Phe) c.6478G>T (p.Val2160Phe) c.6394G>T (p.Val2132Phe) c.6379G>T (p.Val2127Phe) c.6283G>T (p.Val2095Phe) c.6274G>T (p.Val2092Phe) c.6256G>T (p.Val2086Phe) c.6250G>T (p.Val2084Phe) c.6223G>T (p.Val2075Phe) c.6217G>T (p.Val2073Phe) c.6199G>T (p.Val2067Phe) c.6193G>T (p.Val2065Phe) c.6190G>T (p.Val2064Phe) c.6166G>T (p.Val2056Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.2688693G>A | CA213536 | CACNA1C,CACNA1C-AS1 | c.6106G>A (p.Val2036Ile) c.6136G>A (p.Val2046Ile) c.6211G>A (p.Val2071Ile) c.6244G>A (p.Val2082Ile) c.6073G>A (p.Val2025Ile) c.6121G>A (p.Val2041Ile) c.6370G>A (p.Val2124Ile) c.5998G>A (p.Val2000Ile) c.6031G>A (p.Val2011Ile) c.6022G>A (p.Val2008Ile) c.6196G>A (p.Val2066Ile) n.2534G>A c.6175G>A (p.Val2059Ile) c.6154G>A (p.Val2052Ile) c.6055G>A (p.Val2019Ile) c.6091G>A (p.Val2031Ile) c.6088G>A (p.Val2030Ile) c.6082G>A (p.Val2028Ile) c.6115G>A (p.Val2039Ile) c.6049G>A (p.Val2017Ile) c.5659G>A (p.Val1887Ile) c.5803G>A (p.Val1935Ile) c.5698G>A (p.Val1900Ile) c.2104G>A (p.Val702Ile) c.5734G>A (p.Val1912Ile) c.6280G>A (p.Val2094Ile) n.333+1447C>T c.5650G>A (p.Val1884Ile) c.5095G>A (p.Val1699Ile) c.3205G>A (p.Val1069Ile) c.6349G>A (p.Val2117Ile) c.6853G>A (p.Val2285Ile) c.6748G>A (p.Val2250Ile) c.6535G>A (p.Val2179Ile) c.6478G>A (p.Val2160Ile) c.6394G>A (p.Val2132Ile) c.6379G>A (p.Val2127Ile) c.6283G>A (p.Val2095Ile) c.6274G>A (p.Val2092Ile) c.6256G>A (p.Val2086Ile) c.6250G>A (p.Val2084Ile) c.6223G>A (p.Val2075Ile) c.6217G>A (p.Val2073Ile) c.6199G>A (p.Val2067Ile) c.6193G>A (p.Val2065Ile) c.6190G>A (p.Val2064Ile) c.6166G>A (p.Val2056Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |