| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.101022246C>T | CA5654299 | PDZD7 | c.*597G>A (n.*597G>A) c.682G>A (p.Gly228Arg) n.930G>A n.920G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.101022246C>A | CA378230171 | PDZD7 | c.*597G>T (n.*597G>T) c.682G>T (p.Gly228Trp) n.930G>T n.920G>T | dbSNP gnomAD v3 gnomAD v4 |