| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.184323209G>A | CA355395599 | EIF2B5,EIF4G1 | c.2056G>A (p.Gly686Ser) c.1990G>A (p.Gly664Ser) c.1426G>A (p.Gly476Ser) c.1468G>A (p.Gly490Ser) c.1564G>A (p.Gly522Ser) c.2077G>A (p.Gly693Ser) c.1795G>A (p.Gly599Ser) c.1936G>A (p.Gly646Ser) c.*1563G>A (n.*1563G>A) c.1879G>A (p.Gly627Ser) c.*1495G>A (n.*1495G>A) c.2106+178502G>A (n.2106+178502G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.184323209G>T | CA2732378 | EIF2B5,EIF4G1 | c.2056G>T (p.Gly686Cys) c.1990G>T (p.Gly664Cys) c.1426G>T (p.Gly476Cys) c.1468G>T (p.Gly490Cys) c.1564G>T (p.Gly522Cys) c.2077G>T (p.Gly693Cys) c.1795G>T (p.Gly599Cys) c.1936G>T (p.Gly646Cys) c.*1563G>T (n.*1563G>T) c.1879G>T (p.Gly627Cys) c.*1495G>T (n.*1495G>T) c.2106+178502G>T (n.2106+178502G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |