| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.104883051A>T | CA267369093 | CEP170B | c.594A>T (p.Pro198=) c.597A>T (p.Pro199=) c.384A>T (p.Pro128=) c.822A>T (p.Pro274=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.104883051A>C | CA7375347 | CEP170B | c.594A>C (p.Pro198=) c.597A>C (p.Pro199=) c.384A>C (p.Pro128=) c.822A>C (p.Pro274=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |