| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.26561174T>A | CA16042907 | GABRB3 | c.838A>T (p.Ile280Phe) n.881A>T c.521A>T c.583A>T (p.Ile195Phe) c.739A>T (p.Ile247Phe) c.625A>T (p.Ile209Phe) c.1006A>T (p.Ile336Phe) c.*299A>T (n.*299A>T) n.750A>T c.*670A>T (n.*670A>T) n.509A>T c.661A>T (p.Ile221Phe) | ClinVar dbSNP |
| 15 | g.26561174T= | CA2165747258 | GABRB3 | c.838A= (p.Ile280=) n.881A= c.521A= c.583A= (p.Ile195=) c.739A= (p.Ile247=) c.625A= (p.Ile209=) c.1006A= (p.Ile336=) c.*299A= (n.*299A=) n.750A= c.*670A= (n.*670A=) n.509A= c.661A= (p.Ile221=) | dbSNP |