| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.184148698C>A | CA15296397 | EIF2B5 | c.2106+3991C>A (n.2106+3991C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.184148698C>T | CA1425882208 | EIF2B5 | c.2106+3991C>T (n.2106+3991C>T) | dbSNP |
| 3 | g.184148698C= | CA1425882206 | EIF2B5 | c.2106+3991C= (n.2106+3991C=) | dbSNP |