| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.2691170G>T | CA16622108 | CACNA1C | c.6463G>T (p.Asp2155Tyr) c.6493G>T (p.Asp2165Tyr) c.6568G>T (p.Asp2190Tyr) c.6601G>T (p.Asp2201Tyr) c.6430G>T (p.Asp2144Tyr) c.6478G>T (p.Asp2160Tyr) c.6727G>T (p.Asp2243Tyr) c.6355G>T (p.Asp2119Tyr) c.6388G>T (p.Asp2130Tyr) c.6379G>T (p.Asp2127Tyr) c.6553G>T (p.Asp2185Tyr) n.2891G>T c.6532G>T (p.Asp2178Tyr) c.6511G>T (p.Asp2171Tyr) c.6412G>T (p.Asp2138Tyr) c.6448G>T (p.Asp2150Tyr) c.6445G>T (p.Asp2149Tyr) c.6439G>T (p.Asp2147Tyr) c.6472G>T (p.Asp2158Tyr) c.6406G>T (p.Asp2136Tyr) c.6016G>T (p.Asp2006Tyr) c.6160G>T (p.Asp2054Tyr) c.6055G>T (p.Asp2019Tyr) c.2461G>T (p.Asp821Tyr) c.6091G>T (p.Asp2031Tyr) c.6637G>T (p.Asp2213Tyr) c.6007G>T (p.Asp2003Tyr) c.5452G>T (p.Asp1818Tyr) c.3562G>T (p.Asp1188Tyr) c.6706G>T (p.Asp2236Tyr) c.7210G>T (p.Asp2404Tyr) c.7105G>T (p.Asp2369Tyr) c.6892G>T (p.Asp2298Tyr) c.6835G>T (p.Asp2279Tyr) c.6751G>T (p.Asp2251Tyr) c.6736G>T (p.Asp2246Tyr) c.6640G>T (p.Asp2214Tyr) c.6631G>T (p.Asp2211Tyr) c.6613G>T (p.Asp2205Tyr) c.6607G>T (p.Asp2203Tyr) c.6580G>T (p.Asp2194Tyr) c.6574G>T (p.Asp2192Tyr) c.6556G>T (p.Asp2186Tyr) c.6550G>T (p.Asp2184Tyr) c.6547G>T (p.Asp2183Tyr) c.6523G>T (p.Asp2175Tyr) | dbSNP gnomAD v4 |
| 12 | g.2691170G>A | CA264837 | CACNA1C | c.6463G>A (p.Asp2155Asn) c.6493G>A (p.Asp2165Asn) c.6568G>A (p.Asp2190Asn) c.6601G>A (p.Asp2201Asn) c.6430G>A (p.Asp2144Asn) c.6478G>A (p.Asp2160Asn) c.6727G>A (p.Asp2243Asn) c.6355G>A (p.Asp2119Asn) c.6388G>A (p.Asp2130Asn) c.6379G>A (p.Asp2127Asn) c.6553G>A (p.Asp2185Asn) n.2891G>A c.6532G>A (p.Asp2178Asn) c.6511G>A (p.Asp2171Asn) c.6412G>A (p.Asp2138Asn) c.6448G>A (p.Asp2150Asn) c.6445G>A (p.Asp2149Asn) c.6439G>A (p.Asp2147Asn) c.6472G>A (p.Asp2158Asn) c.6406G>A (p.Asp2136Asn) c.6016G>A (p.Asp2006Asn) c.6160G>A (p.Asp2054Asn) c.6055G>A (p.Asp2019Asn) c.2461G>A (p.Asp821Asn) c.6091G>A (p.Asp2031Asn) c.6637G>A (p.Asp2213Asn) c.6007G>A (p.Asp2003Asn) c.5452G>A (p.Asp1818Asn) c.3562G>A (p.Asp1188Asn) c.6706G>A (p.Asp2236Asn) c.7210G>A (p.Asp2404Asn) c.7105G>A (p.Asp2369Asn) c.6892G>A (p.Asp2298Asn) c.6835G>A (p.Asp2279Asn) c.6751G>A (p.Asp2251Asn) c.6736G>A (p.Asp2246Asn) c.6640G>A (p.Asp2214Asn) c.6631G>A (p.Asp2211Asn) c.6613G>A (p.Asp2205Asn) c.6607G>A (p.Asp2203Asn) c.6580G>A (p.Asp2194Asn) c.6574G>A (p.Asp2192Asn) c.6556G>A (p.Asp2186Asn) c.6550G>A (p.Asp2184Asn) c.6547G>A (p.Asp2183Asn) c.6523G>A (p.Asp2175Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |