| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.104203727A>G | CA5681047 | CFAP43 | c.1043T>C (p.Val348Ala) c.1040T>C (p.Val347Ala) c.833T>C (p.Val278Ala) c.272T>C (p.Val91Ala) n.926T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104203727A= | CA1933449480 | CFAP43 | c.1043T= (p.Val348=) c.1040T= (p.Val347=) c.833T= (p.Val278=) c.272T= (p.Val91=) n.926T= | dbSNP |