| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.73076961C>T | CA2957739 | ANKRD17 | c.7731G>A (p.Thr2577=) c.6978G>A (p.Thr2326=) c.7392G>A (p.Thr2464=) c.7382G>A c.7728G>A (p.Thr2576=) c.6975G>A (p.Thr2325=) c.7389G>A (p.Thr2463=) c.6639G>A (p.Thr2213=) c.6636G>A (p.Thr2212=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.73076961C>A | CA439797827 | ANKRD17 | c.7731G>T (p.Thr2577=) c.6978G>T (p.Thr2326=) c.7392G>T (p.Thr2464=) c.7382G>T c.7728G>T (p.Thr2576=) c.6975G>T (p.Thr2325=) c.7389G>T (p.Thr2463=) c.6639G>T (p.Thr2213=) c.6636G>T (p.Thr2212=) | dbSNP |