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 |