| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.89279671C>A | CA16620304 | ANKRD11 | c.6871G>T (p.Glu2291Ter) c.*6674G>T (n.*6674G>T) c.745-4480G>T (n.745-4480G>T) c.152-4480G>T n.46G>T c.6769G>T (p.Glu2257Ter) c.6574G>T (p.Glu2192Ter) c.6742G>T (p.Glu2248Ter) | ClinVar dbSNP gnomAD v4 |
| 16 | g.89279671C>T | CA397149807 | ANKRD11 | c.6871G>A (p.Glu2291Lys) c.*6674G>A (n.*6674G>A) c.745-4480G>A (n.745-4480G>A) c.152-4480G>A n.46G>A c.6769G>A (p.Glu2257Lys) c.6574G>A (p.Glu2192Lys) c.6742G>A (p.Glu2248Lys) | dbSNP gnomAD v4 |