| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.84022883C>T | CA150838 | SLC38A8 | c.697G>A (p.Glu233Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.84022883C>A | CA8200041 | SLC38A8 | c.697G>T (p.Glu233Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.84022883C>G | CA396935208 | SLC38A8 | c.697G>C (p.Glu233Gln) | ClinVar dbSNP gnomAD v4 |
| 16 | g.84022883C= | CA2238380150 | SLC38A8 | c.697G= (p.Glu233=) | dbSNP |