| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.1208106C>T | CA16620068 | CACNA1H | c.3248C>T (p.Thr1083Met) c.3209C>T (p.Thr1070Met) c.*2695C>T (n.*2695C>T) c.2468C>T (p.Thr823Met) c.*1161C>T (n.*1161C>T) c.2702C>T (p.Thr901Met) c.299C>T (p.Thr100Met) c.3267C>T (p.His1089=) n.3350C>T n.3346C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.1208106C= | CA2201517639 | CACNA1H | c.3248C= (p.Thr1083=) c.3209C= (p.Thr1070=) c.*2695C= (n.*2695C=) c.2468C= (p.Thr823=) c.*1161C= (n.*1161C=) c.2702C= (p.Thr901=) c.299C= (p.Thr100=) c.3267C= (p.His1089=) n.3350C= n.3346C= | dbSNP |