| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.7042164C>T | CA8335199 | SLC16A11 | c.946G>A (p.Gly316Ser) c.1018G>A (p.Gly340Ser) c.922G>A (p.Gly308Ser) n.678-256G>A c.1303G>A (p.Gly435Ser) c.704-256G>A (n.704-256G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.7042164C>A | CA8335200 | SLC16A11 | c.946G>T (p.Gly316Cys) c.1018G>T (p.Gly340Cys) c.922G>T (p.Gly308Cys) n.678-256G>T c.1303G>T (p.Gly435Cys) c.704-256G>T (n.704-256G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |