| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.27367800G>A | CA1576800 | EIF2B4 | c.728C>T (p.Pro243Leu) c.702C>T (p.Thr234=) c.304C>T c.725C>T (p.Pro242Leu) c.788C>T (p.Pro263Leu) n.2051C>T c.791C>T (p.Pro264Leu) c.719C>T (p.Pro240Leu) c.681C>T (p.Thr227=) c.683C>T (p.Pro228Leu) c.680C>T (p.Pro227Leu) c.110C>T (p.Pro37Leu) c.635C>T (p.Pro212Leu) c.143C>T (p.Pro48Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 2 | g.27367800G= | CA1240245828 | EIF2B4 | c.728C= (p.Pro243=) c.702C= (p.Thr234=) c.304C= c.725C= (p.Pro242=) c.788C= (p.Pro263=) n.2051C= c.791C= (p.Pro264=) c.719C= (p.Pro240=) c.681C= (p.Thr227=) c.683C= (p.Pro228=) c.680C= (p.Pro227=) c.110C= (p.Pro37=) c.635C= (p.Pro212=) c.143C= (p.Pro48=) | dbSNP |