| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.81594016T>A | CA353685954 | GBE1 | c.1000A>T (p.Ile334Phe) c.877A>T (p.Ile293Phe) | dbSNP gnomAD v4 |
| 3 | g.81594016T>C | CA2499809 | GBE1 | c.1000A>G (p.Ile334Val) c.877A>G (p.Ile293Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.81594016T>G | CA353685955 | GBE1 | c.1000A>C (p.Ile334Leu) c.877A>C (p.Ile293Leu) | dbSNP gnomAD v4 |
| 3 | g.81594016T= | CA1378705283 | GBE1 | c.1000A= (p.Ile334=) c.877A= (p.Ile293=) | dbSNP |