| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.75004815C>T | CA116772 | EIF2B2 | c.512C>T (p.Ser171Phe) c.485C>T (p.Ser162Phe) n.807C>T n.570C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.75004815C>A | CA390425933 | EIF2B2 | c.512C>A (p.Ser171Tyr) c.485C>A (p.Ser162Tyr) n.807C>A n.570C>A | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.75004815C= | CA2147299032 | EIF2B2 | c.512C= (p.Ser171=) c.485C= (p.Ser162=) n.807C= n.570C= | dbSNP |