| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.2691089G>A | CA6390119 | CACNA1C,CACNA1C-AS1 | c.6382G>A (p.Ala2128Thr) c.6412G>A (p.Ala2138Thr) c.6487G>A (p.Ala2163Thr) c.6520G>A (p.Ala2174Thr) c.6349G>A (p.Ala2117Thr) c.6397G>A (p.Ala2133Thr) c.6646G>A (p.Ala2216Thr) c.6274G>A (p.Ala2092Thr) c.6307G>A (p.Ala2103Thr) c.6298G>A (p.Ala2100Thr) c.6472G>A (p.Ala2158Thr) n.2810G>A c.6451G>A (p.Ala2151Thr) c.6430G>A (p.Ala2144Thr) c.6331G>A (p.Ala2111Thr) c.6367G>A (p.Ala2123Thr) c.6364G>A (p.Ala2122Thr) c.6358G>A (p.Ala2120Thr) c.6391G>A (p.Ala2131Thr) c.6325G>A (p.Ala2109Thr) c.5935G>A (p.Ala1979Thr) c.6079G>A (p.Ala2027Thr) c.5974G>A (p.Ala1992Thr) c.2380G>A (p.Ala794Thr) c.6010G>A (p.Ala2004Thr) c.6556G>A (p.Ala2186Thr) n.69C>T c.5926G>A (p.Ala1976Thr) c.5371G>A (p.Ala1791Thr) c.3481G>A (p.Ala1161Thr) c.6625G>A (p.Ala2209Thr) c.7129G>A (p.Ala2377Thr) c.7024G>A (p.Ala2342Thr) c.6811G>A (p.Ala2271Thr) c.6754G>A (p.Ala2252Thr) c.6670G>A (p.Ala2224Thr) c.6655G>A (p.Ala2219Thr) c.6559G>A (p.Ala2187Thr) c.6550G>A (p.Ala2184Thr) c.6532G>A (p.Ala2178Thr) c.6526G>A (p.Ala2176Thr) c.6499G>A (p.Ala2167Thr) c.6493G>A (p.Ala2165Thr) c.6475G>A (p.Ala2159Thr) c.6469G>A (p.Ala2157Thr) c.6466G>A (p.Ala2156Thr) c.6442G>A (p.Ala2148Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.2691089G>T | CA213545 | CACNA1C,CACNA1C-AS1 | c.6382G>T (p.Ala2128Ser) c.6412G>T (p.Ala2138Ser) c.6487G>T (p.Ala2163Ser) c.6520G>T (p.Ala2174Ser) c.6349G>T (p.Ala2117Ser) c.6397G>T (p.Ala2133Ser) c.6646G>T (p.Ala2216Ser) c.6274G>T (p.Ala2092Ser) c.6307G>T (p.Ala2103Ser) c.6298G>T (p.Ala2100Ser) c.6472G>T (p.Ala2158Ser) n.2810G>T c.6451G>T (p.Ala2151Ser) c.6430G>T (p.Ala2144Ser) c.6331G>T (p.Ala2111Ser) c.6367G>T (p.Ala2123Ser) c.6364G>T (p.Ala2122Ser) c.6358G>T (p.Ala2120Ser) c.6391G>T (p.Ala2131Ser) c.6325G>T (p.Ala2109Ser) c.5935G>T (p.Ala1979Ser) c.6079G>T (p.Ala2027Ser) c.5974G>T (p.Ala1992Ser) c.2380G>T (p.Ala794Ser) c.6010G>T (p.Ala2004Ser) c.6556G>T (p.Ala2186Ser) n.69C>A c.5926G>T (p.Ala1976Ser) c.5371G>T (p.Ala1791Ser) c.3481G>T (p.Ala1161Ser) c.6625G>T (p.Ala2209Ser) c.7129G>T (p.Ala2377Ser) c.7024G>T (p.Ala2342Ser) c.6811G>T (p.Ala2271Ser) c.6754G>T (p.Ala2252Ser) c.6670G>T (p.Ala2224Ser) c.6655G>T (p.Ala2219Ser) c.6559G>T (p.Ala2187Ser) c.6550G>T (p.Ala2184Ser) c.6532G>T (p.Ala2178Ser) c.6526G>T (p.Ala2176Ser) c.6499G>T (p.Ala2167Ser) c.6493G>T (p.Ala2165Ser) c.6475G>T (p.Ala2159Ser) c.6469G>T (p.Ala2157Ser) c.6466G>T (p.Ala2156Ser) c.6442G>T (p.Ala2148Ser) | ClinVar dbSNP gnomAD v4 |
| 12 | g.2691089G= | CA2012353222 | CACNA1C,CACNA1C-AS1 | c.6382G= (p.Ala2128=) c.6412G= (p.Ala2138=) c.6487G= (p.Ala2163=) c.6520G= (p.Ala2174=) c.6349G= (p.Ala2117=) c.6397G= (p.Ala2133=) c.6646G= (p.Ala2216=) c.6274G= (p.Ala2092=) c.6307G= (p.Ala2103=) c.6298G= (p.Ala2100=) c.6472G= (p.Ala2158=) n.2810G= c.6451G= (p.Ala2151=) c.6430G= (p.Ala2144=) c.6331G= (p.Ala2111=) c.6367G= (p.Ala2123=) c.6364G= (p.Ala2122=) c.6358G= (p.Ala2120=) c.6391G= (p.Ala2131=) c.6325G= (p.Ala2109=) c.5935G= (p.Ala1979=) c.6079G= (p.Ala2027=) c.5974G= (p.Ala1992=) c.2380G= (p.Ala794=) c.6010G= (p.Ala2004=) c.6556G= (p.Ala2186=) n.69C= c.5926G= (p.Ala1976=) c.5371G= (p.Ala1791=) c.3481G= (p.Ala1161=) c.6625G= (p.Ala2209=) c.7129G= (p.Ala2377=) c.7024G= (p.Ala2342=) c.6811G= (p.Ala2271=) c.6754G= (p.Ala2252=) c.6670G= (p.Ala2224=) c.6655G= (p.Ala2219=) c.6559G= (p.Ala2187=) c.6550G= (p.Ala2184=) c.6532G= (p.Ala2178=) c.6526G= (p.Ala2176=) c.6499G= (p.Ala2167=) c.6493G= (p.Ala2165=) c.6475G= (p.Ala2159=) c.6469G= (p.Ala2157=) c.6466G= (p.Ala2156=) c.6442G= (p.Ala2148=) | dbSNP |