| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.130489423A>G | CA5283575 | ASS1 | c.929A>G (p.Lys310Arg) n.200A>G n.438A>G c.1043A>G (p.Lys348Arg) c.1025A>G (p.Lys342Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.130489423A= | CA1881276656 | ASS1 | c.929A= (p.Lys310=) n.200A= n.438A= c.1043A= (p.Lys348=) c.1025A= (p.Lys342=) | dbSNP |