| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.130464159C>T | CA16041300 | ASS1 | c.412C>T (p.Gln138Ter) c.364-2566C>T (n.364-2566C>T) n.121C>T c.526C>T (p.Gln176Ter) c.508C>T (p.Gln170Ter) | ClinVar dbSNP gnomAD v4 |
| 9 | g.130464159C= | CA1881252657 | ASS1 | c.412C= (p.Gln138=) c.364-2566C= (n.364-2566C=) n.121C= c.526C= (p.Gln176=) c.508C= (p.Gln170=) | dbSNP |