| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.46312576T>C | CA2906724 | GABRA2 | c.396A>G (p.Lys132=) c.*127A>G (n.*127A>G) c.144A>G (p.Lys48=) c.231A>G (p.Lys77=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.46312576T>A | CA356799942 | GABRA2 | c.396A>T (p.Lys132Asn) c.*127A>T (n.*127A>T) c.144A>T (p.Lys48Asn) c.231A>T (p.Lys77Asn) | dbSNP COSMIC COSMIC |