| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.121927677C>T | CA13605198 | CFAP251 | c.747+3687C>T (n.747+3687C>T) n.645+3687C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.121927677C= | CA2068173097 | CFAP251 | c.747+3687C= (n.747+3687C=) n.645+3687C= | dbSNP |