| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.108141631G>A | CA357997 | ACAT1 | c.757G>A (p.Asp253Asn) n.852G>A c.487G>A (p.Asp163Asn) c.394G>A (p.Asp132Asn) c.*12G>A (n.*12G>A) c.442G>A (p.Asp148Asn) n.845G>A c.*230G>A (n.*230G>A) n.252G>A n.218G>A c.379G>A (p.Asp127Asn) c.460G>A (p.Asp154Asn) n.797G>A n.790G>A | ClinVar dbSNP |
| 11 | g.108141631G>T | CA382507774 | ACAT1 | c.757G>T (p.Asp253Tyr) n.852G>T c.487G>T (p.Asp163Tyr) c.394G>T (p.Asp132Tyr) c.*12G>T (n.*12G>T) c.442G>T (p.Asp148Tyr) n.845G>T c.*230G>T (n.*230G>T) n.252G>T n.218G>T c.379G>T (p.Asp127Tyr) c.460G>T (p.Asp154Tyr) n.797G>T n.790G>T | dbSNP gnomAD v4 |
| 11 | g.108141631G= | CA1998718330 | ACAT1 | c.757G= (p.Asp253=) n.852G= c.487G= (p.Asp163=) c.394G= (p.Asp132=) c.*12G= (n.*12G=) c.442G= (p.Asp148=) n.845G= c.*230G= (n.*230G=) n.252G= n.218G= c.379G= (p.Asp127=) c.460G= (p.Asp154=) n.797G= n.790G= | dbSNP |