| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.1401344A>T | CA10651554 | GAMT | c.133T>A (p.Trp45Arg) c.112+21T>A (n.112+21T>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.1401344A= | CA2317700404 | GAMT | c.133T= (p.Trp45=) c.112+21T= (n.112+21T=) | dbSNP |