| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.45775926A>T | CA352456582 | SLC6A20 | c.417T>A (p.Cys139Ter) n.489T>A c.276T>A (p.Cys92Ter) c.120T>A (p.Cys40Ter) | dbSNP gnomAD v4 |
| 3 | g.45775926A>G | CA2351622 | SLC6A20 | c.417T>C (p.Cys139=) n.489T>C c.276T>C (p.Cys92=) c.120T>C (p.Cys40=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |