| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.130470877G>T | CA375227223 | ASS1 | c.539G>T (p.Ser180Ile) c.482G>T (p.Ser161Ile) n.248G>T n.370G>T c.653G>T (p.Ser218Ile) c.635G>T (p.Ser212Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.130470877G>A | CA253831 | ASS1 | c.539G>A (p.Ser180Asn) c.482G>A (p.Ser161Asn) n.248G>A n.370G>A c.653G>A (p.Ser218Asn) c.635G>A (p.Ser212Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |