| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.84203123G>C | CA5579674 | CDHR1 | c.783G>C (p.Pro261=) c.163G>C c.957G>C (p.Pro319=) c.404G>C (p.Arg135Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.84203123G>A | CA5579673 | CDHR1 | c.783G>A (p.Pro261=) c.163G>A c.957G>A (p.Pro319=) c.404G>A (p.Arg135His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.84203123G>T | CA470503881 | CDHR1 | c.783G>T (p.Pro261=) c.163G>T c.957G>T (p.Pro319=) c.404G>T (p.Arg135Leu) | dbSNP |