| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.132370336G>A | CA360802905 | SLC22A5 | c.364G>A (p.Asp122Asn) n.498G>A c.61G>A (p.Asp21Asn) n.633G>A c.-268G>A (n.-268G>A) c.-61G>A (n.-61G>A) | dbSNP gnomAD v2 |
| 5 | g.132370336G>T | CA312977 | SLC22A5 | c.364G>T (p.Asp122Tyr) n.498G>T c.61G>T (p.Asp21Tyr) n.633G>T c.-268G>T (n.-268G>T) c.-61G>T (n.-61G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |