| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.13303877G>A | CA119650 | CACNA1A | c.1994C>T (p.Thr665Met) c.2000C>T (p.Thr667Met) c.1997C>T (p.Thr666Met) c.1856C>T (p.Thr619Met) c.2192C>T (p.Thr731Met) | ClinVar dbSNP gnomAD v2 COSMIC COSMIC COSMIC COSMIC |
| 19 | g.13303877G= | CA2323828103 | CACNA1A | c.1994C= (p.Thr665=) c.2000C= (p.Thr667=) c.1997C= (p.Thr666=) c.1856C= (p.Thr619=) c.2192C= (p.Thr731=) | dbSNP |