| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.42466368C>T | CA384443604 | PRICKLE1 | c.601G>A (p.Asp201Asn) n.428G>A n.24G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.42466368C= | CA2031938582 | PRICKLE1 | c.601G= (p.Asp201=) n.428G= n.24G= | dbSNP |
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.42466368C>T | CA384443604 | PRICKLE1 | c.601G>A (p.Asp201Asn) n.428G>A n.24G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.42466368C= | CA2031938582 | PRICKLE1 | c.601G= (p.Asp201=) n.428G= n.24G= | dbSNP |