| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.121959570T>C | CA13749154 | CFAP251 | c.2133+476T>C (n.2133+476T>C) n.2714T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.121959570T>A | CA2068149553 | CFAP251 | c.2133+476T>A (n.2133+476T>A) n.2714T>A | dbSNP gnomAD v4 |