| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.2593260C>T | CA6389013 | CACNA1C | c.2653C>T (p.Arg885Ter) c.2578C>T (p.Arg860Ter) c.1070C>T c.2668C>T (p.Arg890Ter) c.2569C>T (p.Arg857Ter) c.2743C>T (p.Arg915Ter) c.*1185C>T (n.*1185C>T) c.*2198C>T (n.*2198C>T) c.413C>T c.2101C>T (p.Arg701Ter) c.1738C>T (p.Arg580Ter) c.1183C>T (p.Arg395Ter) c.2941C>T (p.Arg981Ter) c.2746C>T (p.Arg916Ter) c.2821C>T (p.Arg941Ter) c.2737C>T (p.Arg913Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 12 | g.2593260C>G | CA301743 | CACNA1C | c.2653C>G (p.Arg885Gly) c.2578C>G (p.Arg860Gly) c.1070C>G c.2668C>G (p.Arg890Gly) c.2569C>G (p.Arg857Gly) c.2743C>G (p.Arg915Gly) c.*1185C>G (n.*1185C>G) c.*2198C>G (n.*2198C>G) c.413C>G c.2101C>G (p.Arg701Gly) c.1738C>G (p.Arg580Gly) c.1183C>G (p.Arg395Gly) c.2941C>G (p.Arg981Gly) c.2746C>G (p.Arg916Gly) c.2821C>G (p.Arg941Gly) c.2737C>G (p.Arg913Gly) | ClinVar dbSNP gnomAD v4 |
| 12 | g.2593260C= | CA2012308924 | CACNA1C | c.2653C= (p.Arg885=) c.2578C= (p.Arg860=) c.1070C= c.2668C= (p.Arg890=) c.2569C= (p.Arg857=) c.2743C= (p.Arg915=) c.*1185C= (n.*1185C=) c.*2198C= (n.*2198C=) c.413C= c.2101C= (p.Arg701=) c.1738C= (p.Arg580=) c.1183C= (p.Arg395=) c.2941C= (p.Arg981=) c.2746C= (p.Arg916=) c.2821C= (p.Arg941=) c.2737C= (p.Arg913=) | dbSNP |