| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.89280070C>T | CA397151087 | ANKRD11 | c.6472G>A (p.Glu2158Lys) c.*6275G>A (n.*6275G>A) c.745-4879G>A (n.745-4879G>A) c.152-4879G>A c.6370G>A (p.Glu2124Lys) c.6175G>A (p.Glu2059Lys) c.6343G>A (p.Glu2115Lys) | dbSNP gnomAD v4 |
| 16 | g.89280070C>A | CA353445 | ANKRD11 | c.6472G>T (p.Glu2158Ter) c.*6275G>T (n.*6275G>T) c.745-4879G>T (n.745-4879G>T) c.152-4879G>T c.6370G>T (p.Glu2124Ter) c.6175G>T (p.Glu2059Ter) c.6343G>T (p.Glu2115Ter) | ClinVar dbSNP |