| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.73635482C>T | CA263928 | SLC17A5 | c.719G>A (p.Trp240Ter) n.485G>A c.668G>A (p.Trp223Ter) c.521G>A (p.Trp174Ter) c.488G>A (p.Trp163Ter) c.740G>A (p.Trp247Ter) c.632G>A (p.Trp211Ter) c.716G>A (p.Trp239Ter) c.401G>A (p.Trp134Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.73635482C>A | CA364716334 | SLC17A5 | c.719G>T (p.Trp240Leu) n.485G>T c.668G>T (p.Trp223Leu) c.521G>T (p.Trp174Leu) c.488G>T (p.Trp163Leu) c.740G>T (p.Trp247Leu) c.632G>T (p.Trp211Leu) c.716G>T (p.Trp239Leu) c.401G>T (p.Trp134Leu) | ClinVar dbSNP gnomAD v4 |