| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.155236409C>T | CA1141625 | GBA1 | c.1060G>A (p.Asp354Asn) c.913G>A (p.Asp305Asn) c.799G>A (p.Asp267Asn) n.51G>A n.340-121G>A n.665G>A n.683G>A | dbSNP ExAC gnomAD v2 |
| 1 | g.155236409C>G | CA221379 | GBA1 | c.1060G>C (p.Asp354His) c.913G>C (p.Asp305His) c.799G>C (p.Asp267His) n.51G>C n.340-121G>C n.665G>C n.683G>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.155236409C= | CA1144233114 | GBA1 | c.1060G= (p.Asp354=) c.913G= (p.Asp305=) c.799G= (p.Asp267=) n.51G= n.340-121G= n.665G= n.683G= | dbSNP |