| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.49191730C>T | CA10409742 | SYP | n.2236G>A n.675G>A c.649G>A (p.Gly217Ser) c.*401G>A (n.*401G>A) c.318G>A c.328G>A (p.Gly110Ser) c.295G>A (p.Gly99Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.49191730C>G | CA120798 | SYP | n.2236G>C n.675G>C c.649G>C (p.Gly217Arg) c.*401G>C (n.*401G>C) c.318G>C c.328G>C (p.Gly110Arg) c.295G>C (p.Gly99Arg) | ClinVar dbSNP |