| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.109980042G>A | CA3043882 | EGF | c.2124G>A (p.Met708Ile) c.1998G>A (p.Met666Ile) c.*53G>A (n.*53G>A) c.2013G>A (p.Met671Ile) n.2577G>A c.2148G>A (p.Met716Ile) c.2022G>A (p.Met674Ile) n.2601G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.109980042G= | CA1484809965 | EGF | c.2124G= (p.Met708=) c.1998G= (p.Met666=) c.*53G= (n.*53G=) c.2013G= (p.Met671=) n.2577G= c.2148G= (p.Met716=) c.2022G= (p.Met674=) n.2601G= | dbSNP |