| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.16125272G>C | CA338613566 | EPHA2 | c.2874C>G (p.Ile958Met) c.2712C>G (p.Ile904Met) | dbSNP |
| 1 | g.16125272G>A | CA624673 | EPHA2 | c.2874C>T (p.Ile958=) c.2712C>T (p.Ile904=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.16125272G= | CA1139992338 | EPHA2 | c.2874C= (p.Ile958=) c.2712C= (p.Ile904=) | dbSNP |
| 1 | g.16125272G>T | CA416224082 | EPHA2 | c.2874C>A (p.Ile958=) c.2712C>A (p.Ile904=) | dbSNP |