| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.2566466G>A | CA16042880 | CACNA1C | c.972G>A (n.972G>A) c.1628G>A (p.Arg543His) c.1553G>A (p.Arg518His) c.45G>A c.560G>A (p.Arg187His) c.1643G>A (p.Arg548His) c.1544G>A (p.Arg515His) c.1718G>A (p.Arg573His) c.*160G>A (n.*160G>A) c.*1173G>A (n.*1173G>A) n.553G>A c.1076G>A (p.Arg359His) c.713G>A (p.Arg238His) c.158G>A (p.Arg53His) c.1916G>A (p.Arg639His) c.1721G>A (p.Arg574His) c.1796G>A (p.Arg599His) c.1712G>A (p.Arg571His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 12 | g.2566466G= | CA3192155699 | CACNA1C | c.972G= (n.972G=) c.1628G= (p.Arg543=) c.1553G= (p.Arg518=) c.45G= c.560G= (p.Arg187=) c.1643G= (p.Arg548=) c.1544G= (p.Arg515=) c.1718G= (p.Arg573=) c.*160G= (n.*160G=) c.*1173G= (n.*1173G=) n.553G= c.1076G= (p.Arg359=) c.713G= (p.Arg238=) c.158G= (p.Arg53=) c.1916G= (p.Arg639=) c.1721G= (p.Arg574=) c.1796G= (p.Arg599=) c.1712G= (p.Arg571=) | dbSNP |