| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.134607010A>T | CA115877 | SAR1B | c.537T>A (p.Ser179Arg) c.333T>A (p.Ser111Arg) c.*260T>A (n.*260T>A) n.2506T>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.134607010A= | CA1584149910 | SAR1B | c.537T= (p.Ser179=) c.333T= (p.Ser111=) c.*260T= (n.*260T=) n.2506T= | dbSNP |