| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.104167627A>T | CA378095718 | CFAP43 | c.2805T>A (p.Cys935Ter) c.2802T>A (p.Cys934Ter) c.2595T>A (p.Cys865Ter) c.884T>A c.2919T>A (p.Cys973Ter) c.2809-909T>A (n.2809-909T>A) c.2148T>A (p.Cys716Ter) c.702T>A (p.Cys234Ter) c.2916T>A (p.Cys972Ter) c.2578-909T>A (n.2578-909T>A) c.1305T>A (p.Cys435Ter) n.2688T>A | ClinVar dbSNP |
| 10 | g.104167627A>G | CA5680489 | CFAP43 | c.2805T>C (p.Cys935=) c.2802T>C (p.Cys934=) c.2595T>C (p.Cys865=) c.884T>C c.2919T>C (p.Cys973=) c.2809-909T>C (n.2809-909T>C) c.2148T>C (p.Cys716=) c.702T>C (p.Cys234=) c.2916T>C (p.Cys972=) c.2578-909T>C (n.2578-909T>C) c.1305T>C (p.Cys435=) n.2688T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |