| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.184319745A>C | CA355454319 | EIF2B5,EIF4G1 | c.481A>C (p.Thr161Pro) c.415A>C (p.Thr139Pro) c.57A>C c.-12A>C (n.-12A>C) c.502A>C (p.Thr168Pro) c.220A>C (p.Thr74Pro) c.361A>C (p.Thr121Pro) c.204A>C (p.Pro68=) c.304A>C (p.Thr102Pro) c.-51-885A>C (n.-51-885A>C) c.2106+175038A>C (n.2106+175038A>C) c.331A>C (p.Thr111Pro) n.121A>C | dbSNP |
| 3 | g.184319745A>G | CA2731921 | EIF2B5,EIF4G1 | c.481A>G (p.Thr161Ala) c.415A>G (p.Thr139Ala) c.57A>G c.-12A>G (n.-12A>G) c.502A>G (p.Thr168Ala) c.220A>G (p.Thr74Ala) c.361A>G (p.Thr121Ala) c.204A>G (p.Pro68=) c.304A>G (p.Thr102Ala) c.-51-885A>G (n.-51-885A>G) c.2106+175038A>G (n.2106+175038A>G) c.331A>G (p.Thr111Ala) n.121A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.184319745A>T | CA2731922 | EIF2B5,EIF4G1 | c.481A>T (p.Thr161Ser) c.415A>T (p.Thr139Ser) c.57A>T c.-12A>T (n.-12A>T) c.502A>T (p.Thr168Ser) c.220A>T (p.Thr74Ser) c.361A>T (p.Thr121Ser) c.204A>T (p.Pro68=) c.304A>T (p.Thr102Ser) c.-51-885A>T (n.-51-885A>T) c.2106+175038A>T (n.2106+175038A>T) c.331A>T (p.Thr111Ser) n.121A>T | dbSNP ExAC gnomAD v2 gnomAD v4 |