| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.87837861G>A | CA8222777 | SLC7A5 | c.1124C>T (p.Pro375Leu) c.326C>T (p.Pro109Leu) c.605C>T (p.Pro202Leu) c.998C>T (p.Pro333Leu) c.593C>T (p.Pro198Leu) c.659C>T (p.Pro220Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.87837861G= | CA2240719226 | SLC7A5 | c.1124C= (p.Pro375=) c.326C= (p.Pro109=) c.605C= (p.Pro202=) c.998C= (p.Pro333=) c.593C= (p.Pro198=) c.659C= (p.Pro220=) | dbSNP |