| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.130452225C>T | CA312353 | ASS1 | c.-4C>T (n.-4C>T) c.111C>T (p.Asp37=) c.93C>T (p.Asp31=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.130452225C>G | CA860467257 | ASS1 | c.-4C>G (n.-4C>G) c.111C>G (p.Asp37Glu) c.93C>G (p.Asp31Glu) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.130452225C= | CA1881244406 | ASS1 | c.-4C= (n.-4C=) c.111C= (p.Asp37=) c.93C= (p.Asp31=) | dbSNP |