| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.13235702C>T | CA254430 | CACNA1A | c.4979G>A (p.Arg1660His) c.4985G>A (p.Arg1662His) c.398G>A n.203G>A c.140G>A (p.Arg47His) n.184G>A c.4982G>A (p.Arg1661His) n.968G>A c.294G>A c.4988G>A (p.Arg1663His) c.275G>A (p.Arg92His) c.4997G>A (p.Arg1666His) c.4841G>A (p.Arg1614His) c.239G>A n.372G>A c.383G>A (p.Arg128His) c.5183G>A (p.Arg1728His) c.1037G>A (p.Arg346His) c.440G>A (p.Arg147His) | ClinVar dbSNP gnomAD v4 |
| 19 | g.13235702C= | CA2323795785 | CACNA1A | c.4979G= (p.Arg1660=) c.4985G= (p.Arg1662=) c.398G= n.203G= c.140G= (p.Arg47=) n.184G= c.4982G= (p.Arg1661=) n.968G= c.294G= c.4988G= (p.Arg1663=) c.275G= (p.Arg92=) c.4997G= (p.Arg1666=) c.4841G= (p.Arg1614=) c.239G= n.372G= c.383G= (p.Arg128=) c.5183G= (p.Arg1728=) c.1037G= (p.Arg346=) c.440G= (p.Arg147=) | dbSNP |
| 19 | g.13235702C>G | CA404337007 | CACNA1A | c.4979G>C (p.Arg1660Pro) c.4985G>C (p.Arg1662Pro) c.398G>C n.203G>C c.140G>C (p.Arg47Pro) n.184G>C c.4982G>C (p.Arg1661Pro) n.968G>C c.294G>C c.4988G>C (p.Arg1663Pro) c.275G>C (p.Arg92Pro) c.4997G>C (p.Arg1666Pro) c.4841G>C (p.Arg1614Pro) c.239G>C n.372G>C c.383G>C (p.Arg128Pro) c.5183G>C (p.Arg1728Pro) c.1037G>C (p.Arg346Pro) c.440G>C (p.Arg147Pro) | dbSNP |