| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.53730465G>A | CA16618002 | CACNA1D | c.2305G>A (p.Ala769Thr) c.2245G>A (p.Ala749Thr) c.1545G>A c.2317G>A (p.Ala773Thr) c.2278G>A (p.Ala760Thr) c.1324G>A (p.Ala442Thr) c.2416G>A (p.Ala806Thr) c.2356G>A (p.Ala786Thr) c.1879G>A (p.Ala627Thr) c.1504G>A (p.Ala502Thr) | ClinVar dbSNP |
| 3 | g.53730465G= | CA1365452586 | CACNA1D | c.2305G= (p.Ala769=) c.2245G= (p.Ala749=) c.1545G= c.2317G= (p.Ala773=) c.2278G= (p.Ala760=) c.1324G= (p.Ala442=) c.2416G= (p.Ala806=) c.2356G= (p.Ala786=) c.1879G= (p.Ala627=) c.1504G= (p.Ala502=) | dbSNP |