| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.4955097G>T | CA397289782 | ENO3 | c.467G>T (p.Gly156Val) c.338G>T (p.Gly113Val) c.*413G>T (n.*413G>T) c.494G>T (p.Gly165Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4955097G>A | CA126730 | ENO3 | c.467G>A (p.Gly156Asp) c.338G>A (p.Gly113Asp) c.*413G>A (n.*413G>A) c.494G>A (p.Gly165Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4955097G>C | CA8316330 | ENO3 | c.467G>C (p.Gly156Ala) c.338G>C (p.Gly113Ala) c.*413G>C (n.*413G>C) c.494G>C (p.Gly165Ala) | dbSNP ExAC gnomAD v4 |