| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.161331051C>A | CA10588395 | GABRB2 | c.909G>T (p.Lys303Asn) n.991G>T c.*368G>T (n.*368G>T) c.657G>T (p.Lys219Asn) c.159G>T (p.Lys53Asn) c.429G>T (p.Lys143Asn) c.720G>T (p.Lys240Asn) | ClinVar dbSNP |
| 5 | g.161331051C>T | CA447691499 | GABRB2 | c.909G>A (p.Lys303=) n.991G>A c.*368G>A (n.*368G>A) c.657G>A (p.Lys219=) c.159G>A (p.Lys53=) c.429G>A (p.Lys143=) c.720G>A (p.Lys240=) | ClinVar dbSNP |