| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.1860203G>A | CA204549 | CACNA2D4 | c.1882C>T (p.Arg628Ter) n.2075C>T c.*128C>T (n.*128C>T) n.28C>T c.1690C>T (p.Arg564Ter) c.1465C>T (p.Arg489Ter) c.1807C>T (p.Arg603Ter) c.1819C>T (p.Arg607Ter) n.4263C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 12 | g.1860203G>C | CA383350305 | CACNA2D4 | c.1882C>G (p.Arg628Gly) n.2075C>G c.*128C>G (n.*128C>G) n.28C>G c.1690C>G (p.Arg564Gly) c.1465C>G (p.Arg489Gly) c.1807C>G (p.Arg603Gly) c.1819C>G (p.Arg607Gly) n.4263C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |