| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.78985034A>C | CA3318334 | ARSB | c.215T>G (p.Leu72Arg) n.286T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.78985034A>G | CA121117700 | ARSB | c.215T>C (p.Leu72Pro) n.286T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.78985034A>T | CA114606 | ARSB | c.215T>A (p.Leu72Gln) n.286T>A | ClinVar dbSNP gnomAD v4 |
| 5 | g.78985034A= | CA1557710939 | ARSB | c.215T= (p.Leu72=) n.286T= | dbSNP |