| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.2593252C>G | CA6389012 | CACNA1C | c.2645C>G (p.Pro882Arg) c.2570C>G (p.Pro857Arg) c.1062C>G c.2660C>G (p.Pro887Arg) c.2561C>G (p.Pro854Arg) c.2735C>G (p.Pro912Arg) c.*1177C>G (n.*1177C>G) c.*2190C>G (n.*2190C>G) c.405C>G c.2093C>G (p.Pro698Arg) c.1730C>G (p.Pro577Arg) c.1175C>G (p.Pro392Arg) c.2933C>G (p.Pro978Arg) c.2738C>G (p.Pro913Arg) c.2813C>G (p.Pro938Arg) c.2729C>G (p.Pro910Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.2593252C>T | CA353931 | CACNA1C | c.2645C>T (p.Pro882Leu) c.2570C>T (p.Pro857Leu) c.1062C>T c.2660C>T (p.Pro887Leu) c.2561C>T (p.Pro854Leu) c.2735C>T (p.Pro912Leu) c.*1177C>T (n.*1177C>T) c.*2190C>T (n.*2190C>T) c.405C>T c.2093C>T (p.Pro698Leu) c.1730C>T (p.Pro577Leu) c.1175C>T (p.Pro392Leu) c.2933C>T (p.Pro978Leu) c.2738C>T (p.Pro913Leu) c.2813C>T (p.Pro938Leu) c.2729C>T (p.Pro910Leu) | ClinVar dbSNP |
| 12 | g.2593252C= | CA2012308921 | CACNA1C | c.2645C= (p.Pro882=) c.2570C= (p.Pro857=) c.1062C= c.2660C= (p.Pro887=) c.2561C= (p.Pro854=) c.2735C= (p.Pro912=) c.*1177C= (n.*1177C=) c.*2190C= (n.*2190C=) c.405C= c.2093C= (p.Pro698=) c.1730C= (p.Pro577=) c.1175C= (p.Pro392=) c.2933C= (p.Pro978=) c.2738C= (p.Pro913=) c.2813C= (p.Pro938=) c.2729C= (p.Pro910=) | dbSNP |