Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
15 | g.39972904C>A | CA7473804 | EIF2AK4 | c.1554-4C>A (n.1554-4C>A) c.970-4C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.39972904C>G | CA968936804 | EIF2AK4 | c.1554-4C>G (n.1554-4C>G) c.970-4C>G | dbSNP gnomAD v3 gnomAD v4 |
15 | g.39972904C>T | CA7473803 | EIF2AK4 | c.1554-4C>T (n.1554-4C>T) c.970-4C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |