| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.155235843T>G | CA341575 | GBA1 | c.1226A>C (p.Asn409Thr) c.1079A>C (p.Asn360Thr) c.965A>C (p.Asn322Thr) n.217A>C n.385A>C | ClinVar dbSNP |
| 1 | g.155235843T>C | CA116767 | GBA1 | c.1226A>G (p.Asn409Ser) c.1079A>G (p.Asn360Ser) c.965A>G (p.Asn322Ser) n.217A>G n.385A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |