| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.153694137G>A | CA415086679 | SLC6A8 | c.1262G>A (p.Gly421Asp) c.258-67G>A (n.258-67G>A) c.917G>A (p.Gly306Asp) c.316G>A c.239G>A (p.Gly80Asp) n.1407G>A c.1232G>A (p.Gly411Asp) | ClinVar dbSNP |
| X | g.153694137G= | CA2466438196 | SLC6A8 | c.1262G= (p.Gly421=) c.258-67G= (n.258-67G=) c.917G= (p.Gly306=) c.316G= c.239G= (p.Gly80=) n.1407G= c.1232G= (p.Gly411=) | dbSNP |