| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.113327793A>G | CA2543658 | CFAP44 | c.4143T>C (p.Asp1381=) c.5T>C c.1552T>C c.1848T>C (p.Asp616=) c.4275T>C (p.Asp1425=) c.4122T>C (p.Asp1374=) c.3903T>C (p.Asp1301=) c.3594T>C (p.Asp1198=) c.3243T>C (p.Asp1081=) n.4800T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.113327793A= | CA1394216729 | CFAP44 | c.4143T= (p.Asp1381=) c.5T= c.1552T= c.1848T= (p.Asp616=) c.4275T= (p.Asp1425=) c.4122T= (p.Asp1374=) c.3903T= (p.Asp1301=) c.3594T= (p.Asp1198=) c.3243T= (p.Asp1081=) n.4800T= | dbSNP |