| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.184327277A>C | CA88867551 | EIF2B5,EIF4G1 | c.3490A>C (p.Ser1164Arg) c.3424A>C (p.Ser1142Arg) c.2837A>C (n.2837A>C) c.2896-1A>C (n.2896-1A>C) c.3493A>C (p.Ser1165Arg) c.2998A>C (p.Ser1000Arg) c.3511A>C (p.Ser1171Arg) c.3229A>C (p.Ser1077Arg) c.3373A>C (p.Ser1125Arg) c.3370A>C (p.Ser1124Arg) c.3232A>C (p.Ser1078Arg) c.2905A>C (p.Ser969Arg) c.2902A>C (p.Ser968Arg) c.3001A>C (p.Ser1001Arg) c.*2929A>C (n.*2929A>C) c.2106+182570A>C (n.2106+182570A>C) c.651A>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.184327277A>G | CA355414230 | EIF2B5,EIF4G1 | c.3490A>G (p.Ser1164Gly) c.3424A>G (p.Ser1142Gly) c.2837A>G (n.2837A>G) c.2896-1A>G (n.2896-1A>G) c.3493A>G (p.Ser1165Gly) c.2998A>G (p.Ser1000Gly) c.3511A>G (p.Ser1171Gly) c.3229A>G (p.Ser1077Gly) c.3373A>G (p.Ser1125Gly) c.3370A>G (p.Ser1124Gly) c.3232A>G (p.Ser1078Gly) c.2905A>G (p.Ser969Gly) c.2902A>G (p.Ser968Gly) c.3001A>G (p.Ser1001Gly) c.*2929A>G (n.*2929A>G) c.2106+182570A>G (n.2106+182570A>G) c.651A>G | dbSNP gnomAD v2 gnomAD v4 |