| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.130480404C>T | CA266754 | ASS1 | c.793C>T (p.Arg265Cys) n.64C>T n.518C>T n.302C>T n.570C>T c.907C>T (p.Arg303Cys) c.889C>T (p.Arg297Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.130480404C= | CA1881271911 | ASS1 | c.793C= (p.Arg265=) n.64C= n.518C= n.302C= n.570C= c.907C= (p.Arg303=) c.889C= (p.Arg297=) | dbSNP |