| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.64157319C>T | CA354157 | PRICKLE2 | c.611G>A (p.Arg204His) c.443G>A (p.Arg148His) n.1082G>A c.719G>A (p.Arg240His) c.92G>A (p.Arg31His) c.71G>A (p.Arg24His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.64157319C= | CA1370523115 | PRICKLE2 | c.611G= (p.Arg204=) c.443G= (p.Arg148=) n.1082G= c.719G= (p.Arg240=) c.92G= (p.Arg31=) c.71G= (p.Arg24=) | dbSNP |