| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.44875648A>C | CA21786529 | EIF2B3 | c.1023T>G (p.His341Gln) c.485T>G c.933T>G (p.His311Gln) c.636T>G (p.His212Gln) | dbSNP |
| 1 | g.44875648A>G | CA417476006 | EIF2B3 | c.1023T>C (p.His341=) c.485T>C c.933T>C (p.His311=) c.636T>C (p.His212=) | dbSNP gnomAD v4 |
| 1 | g.44875648A= | CA1141372836 | EIF2B3 | c.1023T= (p.His341=) c.485T= c.933T= (p.His311=) c.636T= (p.His212=) | dbSNP |