| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.2593261G>C | CA346203 | CACNA1C | c.2654G>C (p.Arg885Pro) c.2579G>C (p.Arg860Pro) c.1071G>C c.2669G>C (p.Arg890Pro) c.2570G>C (p.Arg857Pro) c.2744G>C (p.Arg915Pro) c.*1186G>C (n.*1186G>C) c.*2199G>C (n.*2199G>C) c.414G>C c.2102G>C (p.Arg701Pro) c.1739G>C (p.Arg580Pro) c.1184G>C (p.Arg395Pro) c.2942G>C (p.Arg981Pro) c.2747G>C (p.Arg916Pro) c.2822G>C (p.Arg941Pro) c.2738G>C (p.Arg913Pro) | ClinVar dbSNP |
| 12 | g.2593261G>A | CA301404 | CACNA1C | c.2654G>A (p.Arg885Gln) c.2579G>A (p.Arg860Gln) c.1071G>A c.2669G>A (p.Arg890Gln) c.2570G>A (p.Arg857Gln) c.2744G>A (p.Arg915Gln) c.*1186G>A (n.*1186G>A) c.*2199G>A (n.*2199G>A) c.414G>A c.2102G>A (p.Arg701Gln) c.1739G>A (p.Arg580Gln) c.1184G>A (p.Arg395Gln) c.2942G>A (p.Arg981Gln) c.2747G>A (p.Arg916Gln) c.2822G>A (p.Arg941Gln) c.2738G>A (p.Arg913Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |