| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.130471489G>T | CA375227457 | ASS1 | c.571G>T (p.Glu191Ter) c.514G>T (p.Glu172Ter) n.280G>T n.402G>T c.685G>T (p.Glu229Ter) c.667G>T (p.Glu223Ter) | ClinVar dbSNP |
| 9 | g.130471489G>A | CA275932 | ASS1 | c.571G>A (p.Glu191Lys) c.514G>A (p.Glu172Lys) n.280G>A n.402G>A c.685G>A (p.Glu229Lys) c.667G>A (p.Glu223Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 9 | g.130471489G= | CA1881256244 | ASS1 | c.571G= (p.Glu191=) c.514G= (p.Glu172=) n.280G= n.402G= c.685G= (p.Glu229=) c.667G= (p.Glu223=) | dbSNP |
| 9 | g.130471489G>C | CA375227456 | ASS1 | c.571G>C (p.Glu191Gln) c.514G>C (p.Glu172Gln) n.280G>C n.402G>C c.685G>C (p.Glu229Gln) c.667G>C (p.Glu223Gln) | ClinVar dbSNP gnomAD v4 |