| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.16168568C>T | CA370391513 | MSR1 | c.520G>A (p.Asp174Asn) c.574G>A (p.Asp192Asn) c.104-4317G>A (n.104-4317G>A) | dbSNP |
| 8 | g.16168568C>G | CA370391514 | MSR1 | c.520G>C (p.Asp174His) c.574G>C (p.Asp192His) c.104-4317G>C (n.104-4317G>C) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.16168568C>A | CA123893 | MSR1 | c.520G>T (p.Asp174Tyr) c.574G>T (p.Asp192Tyr) c.104-4317G>T (n.104-4317G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |