| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.184498342T>A | CA1426052490 | EIF2B5 | c.2107-186144T>A (n.2107-186144T>A) n.448-5418T>A | dbSNP |
| 3 | g.184498342T>C | CA11389616 | EIF2B5 | c.2107-186144T>C (n.2107-186144T>C) n.448-5418T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |