| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.89283858C>T | CA8242536 | ANKRD11 | c.2684G>A (p.Arg895Gln) c.*2487G>A (n.*2487G>A) c.2309G>A (p.Arg770Gln) c.744+4670G>A (n.744+4670G>A) c.151+4670G>A c.2582G>A (p.Arg861Gln) c.2387G>A (p.Arg796Gln) c.2555G>A (p.Arg852Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.89283858C= | CA2241602033 | ANKRD11 | c.2684G= (p.Arg895=) c.*2487G= (n.*2487G=) c.2309G= (p.Arg770=) c.744+4670G= (n.744+4670G=) c.151+4670G= c.2582G= (p.Arg861=) c.2387G= (p.Arg796=) c.2555G= (p.Arg852=) | dbSNP |