| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.35065352G>T | CA373289529 | VCP | c.475C>A (p.Arg159Ser) c.340C>A (p.Arg114Ser) n.747C>A n.821C>A c.469C>A (p.Arg157Ser) c.*446C>A (n.*446C>A) n.745C>A n.796C>A c.30C>A c.197C>A (p.Ala66Glu) c.227C>A c.641C>A n.671C>A | ClinVar dbSNP |
| 9 | g.35065352G>A | CA5039453 | VCP | c.475C>T (p.Arg159Cys) c.340C>T (p.Arg114Cys) n.747C>T n.821C>T c.469C>T (p.Arg157Cys) c.*446C>T (n.*446C>T) n.745C>T n.796C>T c.30C>T c.197C>T (p.Ala66Val) c.227C>T c.641C>T n.671C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.35065352G>C | CA259748 | VCP | c.475C>G (p.Arg159Gly) c.340C>G (p.Arg114Gly) n.747C>G n.821C>G c.469C>G (p.Arg157Gly) c.*446C>G (n.*446C>G) n.745C>G n.796C>G c.30C>G c.197C>G (p.Ala66Gly) c.227C>G c.641C>G n.671C>G | ClinVar dbSNP |