| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.130489464G>A | CA253832 | ASS1 | c.970G>A (p.Gly324Ser) n.241G>A c.1084G>A (p.Gly362Ser) c.1066G>A (p.Gly356Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 9 | g.130489464G>T | CA375230877 | ASS1 | c.970G>T (p.Gly324Cys) n.241G>T c.1084G>T (p.Gly362Cys) c.1066G>T (p.Gly356Cys) | dbSNP gnomAD v2 gnomAD v4 |