| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.161331093G>T | CA16618150 | GABRB2 | c.867C>A (p.Asn289Lys) n.949C>A c.*326C>A (n.*326C>A) c.615C>A (p.Asn205Lys) c.117C>A (p.Asn39Lys) c.387C>A (p.Asn129Lys) c.678C>A (p.Asn226Lys) | ClinVar dbSNP |
| 5 | g.161331093G= | CA1595983883 | GABRB2 | c.867C= (p.Asn289=) n.949C= c.*326C= (n.*326C=) c.615C= (p.Asn205=) c.117C= (p.Asn39=) c.387C= (p.Asn129=) c.678C= (p.Asn226=) | dbSNP |
| 5 | g.161331093G>A | CA447691585 | GABRB2 | c.867C>T (p.Asn289=) n.949C>T c.*326C>T (n.*326C>T) c.615C>T (p.Asn205=) c.117C>T (p.Asn39=) c.387C>T (p.Asn129=) c.678C>T (p.Asn226=) | dbSNP gnomAD v4 |