| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.73641810T>A | CA140975677 | SLC17A5 | c.406A>T (p.Lys136Ter) n.172A>T c.355A>T (p.Lys119Ter) c.208A>T (p.Lys70Ter) c.175A>T (p.Lys59Ter) c.427A>T (p.Lys143Ter) | dbSNP gnomAD v4 |
| 6 | g.73641810T>C | CA342129 | SLC17A5 | c.406A>G (p.Lys136Glu) n.172A>G c.355A>G (p.Lys119Glu) c.208A>G (p.Lys70Glu) c.175A>G (p.Lys59Glu) c.427A>G (p.Lys143Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |