| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.133352708_133352709insCAGG | CA16618782 | SURF1 | c.574_575insCTGC (p.Arg192ProfsTer8) n.484_485insCTGC n.564_565insCTGC c.247_248insCTGC (p.Arg83ProfsTer8) | ClinVar dbSNP dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133352708G= | CA1882634443 | SURF1 | c.574C= (p.Arg192=) n.484C= n.564C= c.247C= (p.Arg83=) | dbSNP dbSNP |