| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.121854790G>C | CA358066119 | BBS7 | c.632C>G (p.Thr211Arg) c.635C>G (p.Thr212Arg) c.680C>G (p.Thr227Arg) c.677C>G (p.Thr226Arg) | ClinVar dbSNP |
| 4 | g.121854790G>A | CA252534 | BBS7 | c.632C>T (p.Thr211Ile) c.635C>T (p.Thr212Ile) c.680C>T (p.Thr227Ile) c.677C>T (p.Thr226Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |