| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.130458549G>T | CA253840 | ASS1 | c.323G>T (p.Arg108Leu) n.32G>T c.437G>T (p.Arg146Leu) c.419G>T (p.Arg140Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.130458549G>A | CA5283225 | ASS1 | c.323G>A (p.Arg108Gln) n.32G>A c.437G>A (p.Arg146Gln) c.419G>A (p.Arg140Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.130458549G= | CA1881250003 | ASS1 | c.323G= (p.Arg108=) n.32G= c.437G= (p.Arg146=) c.419G= (p.Arg140=) | dbSNP |