| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.155235760C>A | CA253069 | GBA1 | c.1309G>T (p.Val437Phe) c.1162G>T (p.Val388Phe) c.1048G>T (p.Val350Phe) n.76G>T n.300G>T n.468G>T | ClinVar dbSNP COSMIC |
| 1 | g.155235760C>G | CA342713274 | GBA1 | c.1309G>C (p.Val437Leu) c.1162G>C (p.Val388Leu) c.1048G>C (p.Val350Leu) n.76G>C n.300G>C n.468G>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |