| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.36744128G>A | CA8942237 | FHOD3 | c.3976G>A (p.Val1326Ile) c.3451G>A (p.Val1151Ile) c.3400G>A (p.Val1134Ile) c.501G>A c.1039G>A (p.Val347Ile) c.718G>A (p.Val240Ile) c.2732G>A c.3787G>A (p.Val1263Ile) c.3337G>A (p.Val1113Ile) c.4036G>A (p.Val1346Ile) c.3985G>A (p.Val1329Ile) c.3961G>A (p.Val1321Ile) c.3802G>A (p.Val1268Ile) c.3739G>A (p.Val1247Ile) c.3511G>A (p.Val1171Ile) c.3781G>A (p.Val1261Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.36744128G>C | CA402225345 | FHOD3 | c.3976G>C (p.Val1326Leu) c.3451G>C (p.Val1151Leu) c.3400G>C (p.Val1134Leu) c.501G>C c.1039G>C (p.Val347Leu) c.718G>C (p.Val240Leu) c.2732G>C c.3787G>C (p.Val1263Leu) c.3337G>C (p.Val1113Leu) c.4036G>C (p.Val1346Leu) c.3985G>C (p.Val1329Leu) c.3961G>C (p.Val1321Leu) c.3802G>C (p.Val1268Leu) c.3739G>C (p.Val1247Leu) c.3511G>C (p.Val1171Leu) c.3781G>C (p.Val1261Leu) | dbSNP |