| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.184327376C>T | CA2732853 | EIF2B5,EIF4G1 | c.3589C>T (p.Arg1197Trp) c.3523C>T (p.Arg1175Trp) c.2936C>T (n.2936C>T) c.2992C>T (p.Arg998Trp) c.3592C>T (p.Arg1198Trp) c.3097C>T (p.Arg1033Trp) c.3610C>T (p.Arg1204Trp) c.3328C>T (p.Arg1110Trp) c.3472C>T (p.Arg1158Trp) c.3469C>T (p.Arg1157Trp) c.3331C>T (p.Arg1111Trp) c.3004C>T (p.Arg1002Trp) c.3001C>T (p.Arg1001Trp) c.3100C>T (p.Arg1034Trp) c.*3028C>T (n.*3028C>T) c.2106+182669C>T (n.2106+182669C>T) n.91C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.184327376C= | CA1425958358 | EIF2B5,EIF4G1 | c.3589C= (p.Arg1197=) c.3523C= (p.Arg1175=) c.2936C= (n.2936C=) c.2992C= (p.Arg998=) c.3592C= (p.Arg1198=) c.3097C= (p.Arg1033=) c.3610C= (p.Arg1204=) c.3328C= (p.Arg1110=) c.3472C= (p.Arg1158=) c.3469C= (p.Arg1157=) c.3331C= (p.Arg1111=) c.3004C= (p.Arg1002=) c.3001C= (p.Arg1001=) c.3100C= (p.Arg1034=) c.*3028C= (n.*3028C=) c.2106+182669C= (n.2106+182669C=) n.91C= | dbSNP |