| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.50617560G>T | CA8653295 | CACNA1G | c.5144G>T (p.Arg1715Leu) c.5042G>T (p.Arg1681Leu) c.5075G>T (p.Arg1692Leu) c.5090G>T (p.Arg1697Leu) c.5021G>T (p.Arg1674Leu) c.5111G>T (p.Arg1704Leu) c.4988G>T (p.Arg1663Leu) c.5009G>T (p.Arg1670Leu) c.5165G>T (p.Arg1722Leu) c.4973G>T (p.Arg1658Leu) c.5063G>T (p.Arg1688Leu) c.5036G>T (p.Arg1679Leu) c.5030G>T (p.Arg1677Leu) n.5536G>T n.5503G>T n.5482G>T n.5467G>T n.5413G>T c.5096G>T (p.Arg1699Leu) c.5024G>T (p.Arg1675Leu) n.5889G>T n.5856G>T n.5835G>T n.5820G>T n.5766G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.50617560G>A | CA065184 | CACNA1G | c.5144G>A (p.Arg1715His) c.5042G>A (p.Arg1681His) c.5075G>A (p.Arg1692His) c.5090G>A (p.Arg1697His) c.5021G>A (p.Arg1674His) c.5111G>A (p.Arg1704His) c.4988G>A (p.Arg1663His) c.5009G>A (p.Arg1670His) c.5165G>A (p.Arg1722His) c.4973G>A (p.Arg1658His) c.5063G>A (p.Arg1688His) c.5036G>A (p.Arg1679His) c.5030G>A (p.Arg1677His) n.5536G>A n.5503G>A n.5482G>A n.5467G>A n.5413G>A c.5096G>A (p.Arg1699His) c.5024G>A (p.Arg1675His) n.5889G>A n.5856G>A n.5835G>A n.5820G>A n.5766G>A | ClinVar dbSNP |