| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.130452281C>T | CA253836 | ASS1 | c.53C>T (p.Ser18Leu) c.167C>T (p.Ser56Leu) c.149C>T (p.Ser50Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.130452281C>G | CA375223562 | ASS1 | c.53C>G (p.Ser18Trp) c.167C>G (p.Ser56Trp) c.149C>G (p.Ser50Trp) | dbSNP gnomAD v4 |
| 9 | g.130452281C= | CA1881244483 | ASS1 | c.53C= (p.Ser18=) c.167C= (p.Ser56=) c.149C= (p.Ser50=) | dbSNP |