| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.89593209G>C | CA377787671 | PANK1 | c.924C>G (p.Cys308Trp) c.1188C>G (p.Cys396Trp) c.1599C>G (p.Cys533Trp) c.747C>G (p.Cys249Trp) c.1422C>G (p.Cys474Trp) c.1005C>G (p.Cys335Trp) c.969C>G (p.Cys323Trp) c.918C>G (p.Cys306Trp) c.912C>G (p.Cys304Trp) c.879C>G (p.Cys293Trp) c.216C>G (p.Cys72Trp) | dbSNP |
| 10 | g.89593209G>A | CA5595749 | PANK1 | c.924C>T (p.Cys308=) c.1188C>T (p.Cys396=) c.1599C>T (p.Cys533=) c.747C>T (p.Cys249=) c.1422C>T (p.Cys474=) c.1005C>T (p.Cys335=) c.969C>T (p.Cys323=) c.918C>T (p.Cys306=) c.912C>T (p.Cys304=) c.879C>T (p.Cys293=) c.216C>T (p.Cys72=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |