| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.184373564C>T | CA16042502 | EIF2B5,THPO | c.667G>A (p.Asp223Asn) c.247G>A (p.Asp83Asn) c.2106+228857C>T (n.2106+228857C>T) | ClinVar dbSNP gnomAD v4 |
| 3 | g.184373564C= | CA1425998175 | EIF2B5,THPO | c.667G= (p.Asp223=) c.247G= (p.Asp83=) c.2106+228857C= (n.2106+228857C=) | dbSNP |