| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.42468783C>T | CA316976 | PRICKLE1 | c.431G>A (p.Arg144His) n.258G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.42468783C>A | CA384443995 | PRICKLE1 | c.431G>T (p.Arg144Leu) n.258G>T | ClinVar dbSNP gnomAD v4 |
| 12 | g.42468783C>G | CA384443996 | PRICKLE1 | c.431G>C (p.Arg144Pro) n.258G>C | dbSNP gnomAD v4 |
| 12 | g.42468783C= | CA2031939599 | PRICKLE1 | c.431G= (p.Arg144=) n.258G= | dbSNP |