| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.1212024A>G | CA199753 | CACNA1H | c.4645A>G (p.Met1549Val) c.*615A>G (n.*615A>G) c.4606A>G (p.Met1536Val) c.*4030A>G (n.*4030A>G) c.3865A>G (p.Met1289Val) c.4583A>G (p.His1528Arg) c.4681A>G (p.Met1561Val) c.*2496A>G (n.*2496A>G) c.869A>G c.294A>G c.4099A>G (p.Met1367Val) c.1696A>G (p.Met566Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.1212024A= | CA2201521895 | CACNA1H | c.4645A= (p.Met1549=) c.*615A= (n.*615A=) c.4606A= (p.Met1536=) c.*4030A= (n.*4030A=) c.3865A= (p.Met1289=) c.4583A= (p.His1528=) c.4681A= (p.Met1561=) c.*2496A= (n.*2496A=) c.869A= c.294A= c.4099A= (p.Met1367=) c.1696A= (p.Met566=) | dbSNP |