| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.66638273G>C | CA367696061 | KCTD7 | c.335G>C (p.Arg112Pro) c.313G>C c.165G>C (p.Ala55=) c.160G>C c.139G>C c.205G>C | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.66638273G>A | CA315693 | KCTD7 | c.335G>A (p.Arg112His) c.313G>A c.165G>A (p.Ala55=) c.160G>A c.139G>A c.205G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |