| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.171554763G>C | CA349282618 | CYBRD1 | c.797G>C (p.Ser266Thr) c.*114G>C (n.*114G>C) c.623G>C (p.Ser208Thr) | dbSNP gnomAD v4 |
| 2 | g.171554763G>A | CA1965397 | CYBRD1 | c.797G>A (p.Ser266Asn) c.*114G>A (n.*114G>A) c.623G>A (p.Ser208Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.171554763G= | CA1307408250 | CYBRD1 | c.797G= (p.Ser266=) c.*114G= (n.*114G=) c.623G= (p.Ser208=) | dbSNP |