| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.215064204C>G | CA10588337 | ABCA12 | c.179G>C (p.Arg60Pro) n.399G>C n.597G>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.215064204C>T | CA2092625 | ABCA12 | c.179G>A (p.Arg60Gln) n.399G>A n.597G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 2 | g.215064204C= | CA1327197009 | ABCA12 | c.179G= (p.Arg60=) n.399G= n.597G= | dbSNP |