Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.64157305C>T | CA354158 | PRICKLE2 | c.625G>A (p.Val209Ile) c.457G>A (p.Val153Ile) n.1096G>A c.733G>A (p.Val245Ile) c.106G>A (p.Val36Ile) c.85G>A (p.Val29Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.64157305C= | CA1370523075 | PRICKLE2 | c.625G= (p.Val209=) c.457G= (p.Val153=) n.1096G= c.733G= (p.Val245=) c.106G= (p.Val36=) c.85G= (p.Val29=) | dbSNP |