| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.143215486G>C | CA215028 | GPIHBP1 | c.523G>C (p.Gly175Arg) c.375+148G>C (n.375+148G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143215486G>A | CA4907150 | GPIHBP1 | c.523G>A (p.Gly175Ser) c.375+148G>A (n.375+148G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |