| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.35067910G>C | CA254402 | VCP | c.283C>G (p.Arg95Gly) c.148C>G (p.Arg50Gly) n.555C>G n.546C>G c.277C>G (p.Arg93Gly) c.*254C>G (n.*254C>G) c.302C>G n.553C>G n.521C>G c.*204C>G (n.*204C>G) c.287C>G c.449C>G n.479C>G | ClinVar dbSNP |
| 9 | g.35067910G>A | CA10603200 | VCP | c.283C>T (p.Arg95Cys) c.148C>T (p.Arg50Cys) n.555C>T n.546C>T c.277C>T (p.Arg93Cys) c.*254C>T (n.*254C>T) c.302C>T n.553C>T n.521C>T c.*204C>T (n.*204C>T) c.287C>T c.449C>T n.479C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |