| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.162103849T>C | CA3544791 | GABRG2 | n.594-40T>C c.752-40T>C (p.=) n.523-40T>C n.715-40T>C c.347-40T>C (p.=) c.632-40T>C (p.=) n.694-40T>C n.509-40T>C c.23-40T>C (p.=) n.560-40T>C (p.=) c.107+35743T>C (p.=) c.566-40T>C (p.=) n.3123T>C n.70-40T>C c.545-40T>C (p.=) n.632-40T>C (p.=) c.*234-40T>C (p.=) n.753-40T>C (p.=) c.623-40T>C (p.=) c.212-40T>C (p.=) | dbSNP ExAC gnomAD |
| 5 | g.162103849T= | CA1596365180 | GABRG2 | n.594-40T= c.752-40T= (p.=) n.523-40T= n.715-40T= c.347-40T= (p.=) c.632-40T= (p.=) n.694-40T= n.509-40T= c.23-40T= (p.=) n.560-40T= (p.=) c.107+35743T= (p.=) c.566-40T= (p.=) n.3123T= n.70-40T= c.545-40T= (p.=) n.632-40T= (p.=) c.*234-40T= (p.=) n.753-40T= (p.=) c.623-40T= (p.=) c.212-40T= (p.=) | |
| 5 | g.162103850A= | CA1596365181 | GABRG2 | n.594-39A= c.752-39A= (p.=) n.523-39A= n.715-39A= c.347-39A= (p.=) c.632-39A= (p.=) n.694-39A= n.509-39A= c.23-39A= (p.=) n.560-39A= (p.=) c.107+35744A= (p.=) c.566-39A= (p.=) n.3124A= n.70-39A= c.545-39A= (p.=) n.632-39A= (p.=) c.*234-39A= (p.=) n.753-39A= (p.=) c.623-39A= (p.=) c.212-39A= (p.=) | |
| 5 | g.162103850A>G | CA564176198 | GABRG2 | n.594-39A>G c.752-39A>G (p.=) n.523-39A>G n.715-39A>G c.347-39A>G (p.=) c.632-39A>G (p.=) n.694-39A>G n.509-39A>G c.23-39A>G (p.=) n.560-39A>G (p.=) c.107+35744A>G (p.=) c.566-39A>G (p.=) n.3124A>G n.70-39A>G c.545-39A>G (p.=) n.632-39A>G (p.=) c.*234-39A>G (p.=) n.753-39A>G (p.=) c.623-39A>G (p.=) c.212-39A>G (p.=) | gnomAD |
| 5 | g.162103854T>C | CA564176200 | GABRG2 | n.594-35T>C c.752-35T>C (p.=) n.523-35T>C n.715-35T>C c.347-35T>C (p.=) c.632-35T>C (p.=) n.694-35T>C n.509-35T>C c.23-35T>C (p.=) n.560-35T>C (p.=) c.107+35748T>C (p.=) c.566-35T>C (p.=) n.3128T>C n.70-35T>C c.545-35T>C (p.=) n.632-35T>C (p.=) c.*234-35T>C (p.=) n.753-35T>C (p.=) c.623-35T>C (p.=) c.212-35T>C (p.=) | gnomAD |
| 5 | g.162103854T>G | CA1083705223 | GABRG2 | n.594-35T>G c.752-35T>G (p.=) n.523-35T>G n.715-35T>G c.347-35T>G (p.=) c.632-35T>G (p.=) n.694-35T>G n.509-35T>G c.23-35T>G (p.=) n.560-35T>G (p.=) c.107+35748T>G (p.=) c.566-35T>G (p.=) n.3128T>G n.70-35T>G c.545-35T>G (p.=) n.632-35T>G (p.=) c.*234-35T>G (p.=) n.753-35T>G (p.=) c.623-35T>G (p.=) c.212-35T>G (p.=) | |
| 5 | g.162103854T= | CA1596365182 | GABRG2 | n.594-35T= c.752-35T= (p.=) n.523-35T= n.715-35T= c.347-35T= (p.=) c.632-35T= (p.=) n.694-35T= n.509-35T= c.23-35T= (p.=) n.560-35T= (p.=) c.107+35748T= (p.=) c.566-35T= (p.=) n.3128T= n.70-35T= c.545-35T= (p.=) n.632-35T= (p.=) c.*234-35T= (p.=) n.753-35T= (p.=) c.623-35T= (p.=) c.212-35T= (p.=) | |
| 5 | g.162103857T>A | CA806639490 | GABRG2 | n.594-32T>A c.752-32T>A (p.=) n.523-32T>A n.715-32T>A c.347-32T>A (p.=) c.632-32T>A (p.=) n.694-32T>A n.509-32T>A c.23-32T>A (p.=) n.560-32T>A (p.=) c.107+35751T>A (p.=) c.566-32T>A (p.=) n.3131T>A n.70-32T>A c.545-32T>A (p.=) n.632-32T>A (p.=) c.*234-32T>A (p.=) n.753-32T>A (p.=) c.623-32T>A (p.=) c.212-32T>A (p.=) | |
| 5 | g.162103857T= | CA1596365183 | GABRG2 | n.594-32T= c.752-32T= (p.=) n.523-32T= n.715-32T= c.347-32T= (p.=) c.632-32T= (p.=) n.694-32T= n.509-32T= c.23-32T= (p.=) n.560-32T= (p.=) c.107+35751T= (p.=) c.566-32T= (p.=) n.3131T= n.70-32T= c.545-32T= (p.=) n.632-32T= (p.=) c.*234-32T= (p.=) n.753-32T= (p.=) c.623-32T= (p.=) c.212-32T= (p.=) | |
| 5 | g.162103858T>G | CA564176202 | GABRG2 | n.594-31T>G c.752-31T>G (p.=) n.523-31T>G n.715-31T>G c.347-31T>G (p.=) c.632-31T>G (p.=) n.694-31T>G n.509-31T>G c.23-31T>G (p.=) n.560-31T>G (p.=) c.107+35752T>G (p.=) c.566-31T>G (p.=) n.3132T>G n.70-31T>G c.545-31T>G (p.=) n.632-31T>G (p.=) c.*234-31T>G (p.=) n.753-31T>G (p.=) c.623-31T>G (p.=) c.212-31T>G (p.=) | gnomAD |
| 5 | g.162103858T= | CA1596365184 | GABRG2 | n.594-31T= c.752-31T= (p.=) n.523-31T= n.715-31T= c.347-31T= (p.=) c.632-31T= (p.=) n.694-31T= n.509-31T= c.23-31T= (p.=) n.560-31T= (p.=) c.107+35752T= (p.=) c.566-31T= (p.=) n.3132T= n.70-31T= c.545-31T= (p.=) n.632-31T= (p.=) c.*234-31T= (p.=) n.753-31T= (p.=) c.623-31T= (p.=) c.212-31T= (p.=) | |
| 5 | g.162103865G>A | CA564176204 | GABRG2 | n.594-24G>A c.752-24G>A (p.=) n.523-24G>A n.715-24G>A c.347-24G>A (p.=) c.632-24G>A (p.=) n.694-24G>A n.509-24G>A c.23-24G>A (p.=) n.560-24G>A (p.=) c.107+35759G>A (p.=) c.566-24G>A (p.=) n.3139G>A n.70-24G>A c.545-24G>A (p.=) n.632-24G>A (p.=) c.*234-24G>A (p.=) n.753-24G>A (p.=) c.623-24G>A (p.=) c.212-24G>A (p.=) | gnomAD |
| 5 | g.162103865G= | CA1596365185 | GABRG2 | n.594-24G= c.752-24G= (p.=) n.523-24G= n.715-24G= c.347-24G= (p.=) c.632-24G= (p.=) n.694-24G= n.509-24G= c.23-24G= (p.=) n.560-24G= (p.=) c.107+35759G= (p.=) c.566-24G= (p.=) n.3139G= n.70-24G= c.545-24G= (p.=) n.632-24G= (p.=) c.*234-24G= (p.=) n.753-24G= (p.=) c.623-24G= (p.=) c.212-24G= (p.=) | |
| 5 | g.162103869G>A | CA1596365187 | GABRG2 | n.594-20G>A c.752-20G>A (p.=) n.523-20G>A n.715-20G>A c.347-20G>A (p.=) c.632-20G>A (p.=) n.694-20G>A n.509-20G>A c.23-20G>A (p.=) n.560-20G>A (p.=) c.107+35763G>A (p.=) c.566-20G>A (p.=) n.3143G>A n.70-20G>A c.545-20G>A (p.=) n.632-20G>A (p.=) c.*234-20G>A (p.=) n.753-20G>A (p.=) c.623-20G>A (p.=) c.212-20G>A (p.=) | |
| 5 | g.162103869G= | CA1596365186 | GABRG2 | n.594-20G= c.752-20G= (p.=) n.523-20G= n.715-20G= c.347-20G= (p.=) c.632-20G= (p.=) n.694-20G= n.509-20G= c.23-20G= (p.=) n.560-20G= (p.=) c.107+35763G= (p.=) c.566-20G= (p.=) n.3143G= n.70-20G= c.545-20G= (p.=) n.632-20G= (p.=) c.*234-20G= (p.=) n.753-20G= (p.=) c.623-20G= (p.=) c.212-20G= (p.=) | |
| 5 | g.162103869G>T | CA1596365188 | GABRG2 | n.594-20G>T c.752-20G>T (p.=) n.523-20G>T n.715-20G>T c.347-20G>T (p.=) c.632-20G>T (p.=) n.694-20G>T n.509-20G>T c.23-20G>T (p.=) n.560-20G>T (p.=) c.107+35763G>T (p.=) c.566-20G>T (p.=) n.3143G>T n.70-20G>T c.545-20G>T (p.=) n.632-20G>T (p.=) c.*234-20G>T (p.=) n.753-20G>T (p.=) c.623-20G>T (p.=) c.212-20G>T (p.=) | |
| 5 | g.162103875C= | CA1596365189 | GABRG2 | n.594-14C= c.752-14C= (p.=) n.523-14C= n.715-14C= c.347-14C= (p.=) c.632-14C= (p.=) n.694-14C= n.509-14C= c.23-14C= (p.=) n.560-14C= (p.=) c.107+35769C= (p.=) c.566-14C= (p.=) n.3149C= n.70-14C= c.545-14C= (p.=) n.632-14C= (p.=) c.*234-14C= (p.=) n.753-14C= (p.=) c.623-14C= (p.=) c.212-14C= (p.=) | |
| 5 | g.162103875C>T | CA1596365190 | GABRG2 | n.594-14C>T c.752-14C>T (p.=) n.523-14C>T n.715-14C>T c.347-14C>T (p.=) c.632-14C>T (p.=) n.694-14C>T n.509-14C>T c.23-14C>T (p.=) n.560-14C>T (p.=) c.107+35769C>T (p.=) c.566-14C>T (p.=) n.3149C>T n.70-14C>T c.545-14C>T (p.=) n.632-14C>T (p.=) c.*234-14C>T (p.=) n.753-14C>T (p.=) c.623-14C>T (p.=) c.212-14C>T (p.=) | |
| 5 | g.162103877A= | CA1596365191 | GABRG2 | n.594-12A= c.752-12A= (p.=) n.523-12A= n.715-12A= c.347-12A= (p.=) c.632-12A= (p.=) n.694-12A= n.509-12A= c.23-12A= (p.=) n.560-12A= (p.=) c.107+35771A= (p.=) c.566-12A= (p.=) n.3151A= n.70-12A= c.545-12A= (p.=) n.632-12A= (p.=) c.*234-12A= (p.=) n.753-12A= (p.=) c.623-12A= (p.=) c.212-12A= (p.=) | |
| 5 | g.162103877A>G | CA131112326 | GABRG2 | n.594-12A>G c.752-12A>G (p.=) n.523-12A>G n.715-12A>G c.347-12A>G (p.=) c.632-12A>G (p.=) n.694-12A>G n.509-12A>G c.23-12A>G (p.=) n.560-12A>G (p.=) c.107+35771A>G (p.=) c.566-12A>G (p.=) n.3151A>G n.70-12A>G c.545-12A>G (p.=) n.632-12A>G (p.=) c.*234-12A>G (p.=) n.753-12A>G (p.=) c.623-12A>G (p.=) c.212-12A>G (p.=) | dbSNP gnomAD |
| 5 | g.162103879C>A | CA3544792 | GABRG2 | n.594-10C>A c.752-10C>A (p.=) n.523-10C>A n.715-10C>A c.347-10C>A (p.=) c.632-10C>A (p.=) n.694-10C>A n.509-10C>A c.23-10C>A (p.=) n.560-10C>A (p.=) c.107+35773C>A (p.=) c.566-10C>A (p.=) n.3153C>A n.70-10C>A c.545-10C>A (p.=) n.632-10C>A (p.=) c.*234-10C>A (p.=) n.753-10C>A (p.=) c.623-10C>A (p.=) c.212-10C>A (p.=) | ClinVar dbSNP ExAC gnomAD |
| 5 | g.162103879C= | CA1596365192 | GABRG2 | n.594-10C= c.752-10C= (p.=) n.523-10C= n.715-10C= c.347-10C= (p.=) c.632-10C= (p.=) n.694-10C= n.509-10C= c.23-10C= (p.=) n.560-10C= (p.=) c.107+35773C= (p.=) c.566-10C= (p.=) n.3153C= n.70-10C= c.545-10C= (p.=) n.632-10C= (p.=) c.*234-10C= (p.=) n.753-10C= (p.=) c.623-10C= (p.=) c.212-10C= (p.=) | |
| 5 | g.162103881C= | CA1596365193 | GABRG2 | n.594-8C= c.752-8C= (p.=) n.523-8C= n.715-8C= c.347-8C= (p.=) c.632-8C= (p.=) n.694-8C= n.509-8C= c.23-8C= (p.=) n.560-8C= (p.=) c.107+35775C= (p.=) c.566-8C= (p.=) n.3155C= n.70-8C= c.545-8C= (p.=) n.632-8C= (p.=) c.*234-8C= (p.=) n.753-8C= (p.=) c.623-8C= (p.=) c.212-8C= (p.=) | |
| 5 | g.162103881C>T | CA3544793 | GABRG2 | n.594-8C>T c.752-8C>T (p.=) n.523-8C>T n.715-8C>T c.347-8C>T (p.=) c.632-8C>T (p.=) n.694-8C>T n.509-8C>T c.23-8C>T (p.=) n.560-8C>T (p.=) c.107+35775C>T (p.=) c.566-8C>T (p.=) n.3155C>T n.70-8C>T c.545-8C>T (p.=) n.632-8C>T (p.=) c.*234-8C>T (p.=) n.753-8C>T (p.=) c.623-8C>T (p.=) c.212-8C>T (p.=) | ClinVar dbSNP ExAC gnomAD |
| 5 | g.162103882A= | CA1596365194 | GABRG2 | n.594-7A= c.752-7A= (p.=) n.523-7A= n.715-7A= c.347-7A= (p.=) c.632-7A= (p.=) n.694-7A= n.509-7A= c.23-7A= (p.=) n.560-7A= (p.=) c.107+35776A= (p.=) c.566-7A= (p.=) n.3156A= n.70-7A= c.545-7A= (p.=) n.632-7A= (p.=) c.*234-7A= (p.=) n.753-7A= (p.=) c.623-7A= (p.=) c.212-7A= (p.=) | |
| 5 | g.162103882A>T | CA3544794 | GABRG2 | n.594-7A>T c.752-7A>T (p.=) n.523-7A>T n.715-7A>T c.347-7A>T (p.=) c.632-7A>T (p.=) n.694-7A>T n.509-7A>T c.23-7A>T (p.=) n.560-7A>T (p.=) c.107+35776A>T (p.=) c.566-7A>T (p.=) n.3156A>T n.70-7A>T c.545-7A>T (p.=) n.632-7A>T (p.=) c.*234-7A>T (p.=) n.753-7A>T (p.=) c.623-7A>T (p.=) c.212-7A>T (p.=) | dbSNP ExAC gnomAD |
| 5 | g.162103883C= | CA1596365195 | GABRG2 | n.594-6C= c.752-6C= (p.=) n.523-6C= n.715-6C= c.347-6C= (p.=) c.632-6C= (p.=) n.694-6C= n.509-6C= c.23-6C= (p.=) n.560-6C= (p.=) c.107+35777C= (p.=) c.566-6C= (p.=) n.3157C= n.70-6C= c.545-6C= (p.=) n.632-6C= (p.=) c.*234-6C= (p.=) n.753-6C= (p.=) c.623-6C= (p.=) c.212-6C= (p.=) | |
| 5 | g.162103883C>T | CA3544795 | GABRG2 | n.594-6C>T c.752-6C>T (p.=) n.523-6C>T n.715-6C>T c.347-6C>T (p.=) c.632-6C>T (p.=) n.694-6C>T n.509-6C>T c.23-6C>T (p.=) n.560-6C>T (p.=) c.107+35777C>T (p.=) c.566-6C>T (p.=) n.3157C>T n.70-6C>T c.545-6C>T (p.=) n.632-6C>T (p.=) c.*234-6C>T (p.=) n.753-6C>T (p.=) c.623-6C>T (p.=) c.212-6C>T (p.=) | ClinVar dbSNP ExAC gnomAD COSMIC |
| 5 | g.162103884G>A | CA1596365197 | GABRG2 | n.594-5G>A c.752-5G>A (p.=) n.523-5G>A n.715-5G>A c.347-5G>A (p.=) c.632-5G>A (p.=) n.694-5G>A n.509-5G>A c.23-5G>A (p.=) n.560-5G>A (p.=) c.107+35778G>A (p.=) c.566-5G>A (p.=) n.3158G>A n.70-5G>A c.545-5G>A (p.=) n.632-5G>A (p.=) c.*234-5G>A (p.=) n.753-5G>A (p.=) c.623-5G>A (p.=) c.212-5G>A (p.=) | ClinVar |
| 5 | g.162103884G= | CA1596365196 | GABRG2 | n.594-5G= c.752-5G= (p.=) n.523-5G= n.715-5G= c.347-5G= (p.=) c.632-5G= (p.=) n.694-5G= n.509-5G= c.23-5G= (p.=) n.560-5G= (p.=) c.107+35778G= (p.=) c.566-5G= (p.=) n.3158G= n.70-5G= c.545-5G= (p.=) n.632-5G= (p.=) c.*234-5G= (p.=) n.753-5G= (p.=) c.623-5G= (p.=) c.212-5G= (p.=) | |
| 5 | g.162103887A>C | CA362184954 | GABRG2 | n.594-2A>C c.752-2A>C (p.=) n.523-2A>C n.715-2A>C c.347-2A>C (p.=) c.632-2A>C (p.=) n.694-2A>C n.509-2A>C c.23-2A>C (p.=) n.560-2A>C (p.=) c.107+35781A>C (p.=) c.566-2A>C (p.=) n.3161A>C n.70-2A>C c.545-2A>C (p.=) n.632-2A>C (p.=) c.*234-2A>C (p.=) n.753-2A>C (p.=) c.623-2A>C (p.=) c.212-2A>C (p.=) | |
| 5 | g.162103887A>G | CA362184955 | GABRG2 | n.594-2A>G c.752-2A>G (p.=) n.523-2A>G n.715-2A>G c.347-2A>G (p.=) c.632-2A>G (p.=) n.694-2A>G n.509-2A>G c.23-2A>G (p.=) n.560-2A>G (p.=) c.107+35781A>G (p.=) c.566-2A>G (p.=) n.3161A>G n.70-2A>G c.545-2A>G (p.=) n.632-2A>G (p.=) c.*234-2A>G (p.=) n.753-2A>G (p.=) c.623-2A>G (p.=) c.212-2A>G (p.=) | |
| 5 | g.162103887A>T | CA362184956 | GABRG2 | n.594-2A>T c.752-2A>T (p.=) n.523-2A>T n.715-2A>T c.347-2A>T (p.=) c.632-2A>T (p.=) n.694-2A>T n.509-2A>T c.23-2A>T (p.=) n.560-2A>T (p.=) c.107+35781A>T (p.=) c.566-2A>T (p.=) n.3161A>T n.70-2A>T c.545-2A>T (p.=) n.632-2A>T (p.=) c.*234-2A>T (p.=) n.753-2A>T (p.=) c.623-2A>T (p.=) c.212-2A>T (p.=) | ClinVar |
| 5 | g.162103888G>A | CA362184957 | GABRG2 | n.594-1G>A c.752-1G>A (p.=) n.523-1G>A n.715-1G>A c.347-1G>A (p.=) c.632-1G>A (p.=) n.694-1G>A n.509-1G>A c.23-1G>A (p.=) n.560-1G>A (p.=) c.107+35782G>A (p.=) c.566-1G>A (p.=) n.3162G>A n.70-1G>A c.545-1G>A (p.=) n.632-1G>A (p.=) c.*234-1G>A (p.=) n.753-1G>A (p.=) c.623-1G>A (p.=) c.212-1G>A (p.=) | |
| 5 | g.162103888G>C | CA362184958 | GABRG2 | n.594-1G>C c.752-1G>C (p.=) n.523-1G>C n.715-1G>C c.347-1G>C (p.=) c.632-1G>C (p.=) n.694-1G>C n.509-1G>C c.23-1G>C (p.=) n.560-1G>C (p.=) c.107+35782G>C (p.=) c.566-1G>C (p.=) n.3162G>C n.70-1G>C c.545-1G>C (p.=) n.632-1G>C (p.=) c.*234-1G>C (p.=) n.753-1G>C (p.=) c.623-1G>C (p.=) c.212-1G>C (p.=) | |
| 5 | g.162103888G>T | CA362184959 | GABRG2 | n.594-1G>T c.752-1G>T (p.=) n.523-1G>T n.715-1G>T c.347-1G>T (p.=) c.632-1G>T (p.=) n.694-1G>T n.509-1G>T c.23-1G>T (p.=) n.560-1G>T (p.=) c.107+35782G>T (p.=) c.566-1G>T (p.=) n.3162G>T n.70-1G>T c.545-1G>T (p.=) n.632-1G>T (p.=) c.*234-1G>T (p.=) n.753-1G>T (p.=) c.623-1G>T (p.=) c.212-1G>T (p.=) | |
| 5 | g.162103889A>C | CA362184961 | GABRG2 | n.594A>C c.752A>C (p.Asp251Ala) n.523A>C n.715A>C c.347A>C (p.Tyr116Ser) c.632A>C (p.Tyr211Ser) n.694A>C n.509A>C c.23A>C (p.Asp8Ala) n.560A>C (p.Tyr187Ser) c.107+35783A>C (p.=) c.566A>C (p.Tyr189Ser) n.3163A>C n.70A>C c.545A>C (p.Tyr182Ser) n.632A>C (p.Tyr211Ser) c.*234A>C (p.=) n.753A>C (p.=) c.623A>C (p.Tyr208Ser) c.212A>C (p.Tyr71Ser) | |
| 5 | g.162103889A>G | CA362184962 | GABRG2 | n.594A>G c.752A>G (p.Asp251Gly) n.523A>G n.715A>G c.347A>G (p.Tyr116Cys) c.632A>G (p.Tyr211Cys) n.694A>G n.509A>G c.23A>G (p.Asp8Gly) n.560A>G (p.Tyr187Cys) c.107+35783A>G (p.=) c.566A>G (p.Tyr189Cys) n.3163A>G n.70A>G c.545A>G (p.Tyr182Cys) n.632A>G (p.Tyr211Cys) c.*234A>G (p.=) n.753A>G (p.=) c.623A>G (p.Tyr208Cys) c.212A>G (p.Tyr71Cys) | |
| 5 | g.162103889A>T | CA362184960 | GABRG2 | n.594A>T c.752A>T (p.Asp251Val) n.523A>T n.715A>T c.347A>T (p.Tyr116Phe) c.632A>T (p.Tyr211Phe) n.694A>T n.509A>T c.23A>T (p.Asp8Val) n.560A>T (p.Tyr187Phe) c.107+35783A>T (p.=) c.566A>T (p.Tyr189Phe) n.3163A>T n.70A>T c.545A>T (p.Tyr182Phe) n.632A>T (p.Tyr211Phe) c.*234A>T (p.=) n.753A>T (p.=) c.623A>T (p.Tyr208Phe) c.212A>T (p.Tyr71Phe) | |
| 5 | g.162103890T>A | CA3544796 | GABRG2 | n.595T>A c.753T>A (p.Asp251Glu) n.524T>A n.716T>A c.348T>A (p.Tyr116Ter) c.633T>A (p.Tyr211Ter) n.695T>A n.510T>A c.24T>A (p.Asp8Glu) n.561T>A (p.Tyr187Ter) c.107+35784T>A (p.=) c.567T>A (p.Tyr189Ter) n.3164T>A n.71T>A c.546T>A (p.Tyr182Ter) n.633T>A (p.Tyr211Ter) c.*235T>A (p.=) n.754T>A (p.=) c.624T>A (p.Tyr208Ter) c.213T>A (p.Tyr71Ter) | dbSNP ExAC gnomAD |
| 5 | g.162103890T>C | CA447609914 | GABRG2 | n.595T>C c.753T>C (p.Asp251=) n.524T>C n.716T>C c.348T>C (p.Tyr116=) c.633T>C (p.Tyr211=) n.695T>C n.510T>C c.24T>C (p.Asp8=) n.561T>C (p.Tyr187=) c.107+35784T>C (p.=) c.567T>C (p.Tyr189=) n.3164T>C n.71T>C c.546T>C (p.Tyr182=) n.633T>C (p.Tyr211=) c.*235T>C (p.=) n.754T>C (p.=) c.624T>C (p.Tyr208=) c.213T>C (p.Tyr71=) | |
| 5 | g.162103890T>G | CA362184963 | GABRG2 | n.595T>G c.753T>G (p.Asp251Glu) n.524T>G n.716T>G c.348T>G (p.Tyr116Ter) c.633T>G (p.Tyr211Ter) n.695T>G n.510T>G c.24T>G (p.Asp8Glu) n.561T>G (p.Tyr187Ter) c.107+35784T>G (p.=) c.567T>G (p.Tyr189Ter) n.3164T>G n.71T>G c.546T>G (p.Tyr182Ter) n.633T>G (p.Tyr211Ter) c.*235T>G (p.=) n.754T>G (p.=) c.624T>G (p.Tyr208Ter) c.213T>G (p.Tyr71Ter) | |
| 5 | g.162103890T= | CA1596365198 | GABRG2 | n.595T= c.753T= (p.Asp251=) n.524T= n.716T= c.348T= (p.Tyr116=) c.633T= (p.Tyr211=) n.695T= n.510T= c.24T= (p.Asp8=) n.561T= (p.Tyr187=) c.107+35784T= (p.=) c.567T= (p.Tyr189=) n.3164T= n.71T= c.546T= (p.Tyr182=) n.633T= (p.Tyr211=) c.*235T= (p.=) n.754T= (p.=) c.624T= (p.Tyr208=) c.213T= (p.Tyr71=) | |
| 5 | g.162103891G>A | CA362184964 | GABRG2 | n.596G>A c.754G>A (p.Gly252Ser) n.525G>A n.717G>A c.349G>A (p.Gly117Ser) c.634G>A (p.Gly212Ser) n.696G>A n.511G>A c.25G>A (p.Gly9Ser) n.562G>A (p.Gly188Ser) c.107+35785G>A (p.=) c.568G>A (p.Gly190Ser) n.3165G>A n.72G>A c.547G>A (p.Gly183Ser) n.634G>A (p.Gly212Ser) c.*236G>A (p.=) n.755G>A (p.=) c.625G>A (p.Gly209Ser) c.214G>A (p.Gly72Ser) | |
| 5 | g.162103891G>C | CA362184965 | GABRG2 | n.596G>C c.754G>C (p.Gly252Arg) n.525G>C n.717G>C c.349G>C (p.Gly117Arg) c.634G>C (p.Gly212Arg) n.696G>C n.511G>C c.25G>C (p.Gly9Arg) n.562G>C (p.Gly188Arg) c.107+35785G>C (p.=) c.568G>C (p.Gly190Arg) n.3165G>C n.72G>C c.547G>C (p.Gly183Arg) n.634G>C (p.Gly212Arg) c.*236G>C (p.=) n.755G>C (p.=) c.625G>C (p.Gly209Arg) c.214G>C (p.Gly72Arg) | |
| 5 | g.162103891G>T | CA362184966 | GABRG2 | n.596G>T c.754G>T (p.Gly252Cys) n.525G>T n.717G>T c.349G>T (p.Gly117Cys) c.634G>T (p.Gly212Cys) n.696G>T n.511G>T c.25G>T (p.Gly9Cys) n.562G>T (p.Gly188Cys) c.107+35785G>T (p.=) c.568G>T (p.Gly190Cys) n.3165G>T n.72G>T c.547G>T (p.Gly183Cys) n.634G>T (p.Gly212Cys) c.*236G>T (p.=) n.755G>T (p.=) c.625G>T (p.Gly209Cys) c.214G>T (p.Gly72Cys) | |
| 5 | g.162103892G>A | CA362184967 | GABRG2 | n.597G>A c.755G>A (p.Gly252Asp) n.526G>A n.718G>A c.350G>A (p.Gly117Asp) c.635G>A (p.Gly212Asp) n.697G>A n.512G>A c.26G>A (p.Gly9Asp) n.563G>A (p.Gly188Asp) c.107+35786G>A (p.=) c.569G>A (p.Gly190Asp) n.3166G>A n.73G>A c.548G>A (p.Gly183Asp) n.635G>A (p.Gly212Asp) c.*237G>A (p.=) n.756G>A (p.=) c.626G>A (p.Gly209Asp) c.215G>A (p.Gly72Asp) | |
| 5 | g.162103892G>C | CA362184968 | GABRG2 | n.597G>C c.755G>C (p.Gly252Ala) n.526G>C n.718G>C c.350G>C (p.Gly117Ala) c.635G>C (p.Gly212Ala) n.697G>C n.512G>C c.26G>C (p.Gly9Ala) n.563G>C (p.Gly188Ala) c.107+35786G>C (p.=) c.569G>C (p.Gly190Ala) n.3166G>C n.73G>C c.548G>C (p.Gly183Ala) n.635G>C (p.Gly212Ala) c.*237G>C (p.=) n.756G>C (p.=) c.626G>C (p.Gly209Ala) c.215G>C (p.Gly72Ala) | |
| 5 | g.162103892G>T | CA362184969 | GABRG2 | n.597G>T c.755G>T (p.Gly252Val) n.526G>T n.718G>T c.350G>T (p.Gly117Val) c.635G>T (p.Gly212Val) n.697G>T n.512G>T c.26G>T (p.Gly9Val) n.563G>T (p.Gly188Val) c.107+35786G>T (p.=) c.569G>T (p.Gly190Val) n.3166G>T n.73G>T c.548G>T (p.Gly183Val) n.635G>T (p.Gly212Val) c.*237G>T (p.=) n.756G>T (p.=) c.626G>T (p.Gly209Val) c.215G>T (p.Gly72Val) | |
| 5 | g.162103893C>A | CA447609918 | GABRG2 | n.598C>A c.756C>A (p.Gly252=) n.527C>A n.719C>A c.351C>A (p.Gly117=) c.636C>A (p.Gly212=) n.698C>A n.513C>A c.27C>A (p.Gly9=) n.564C>A (p.Gly188=) c.107+35787C>A (p.=) c.570C>A (p.Gly190=) n.3167C>A n.74C>A c.549C>A (p.Gly183=) n.636C>A (p.Gly212=) c.*238C>A (p.=) n.757C>A (p.=) c.627C>A (p.Gly209=) c.216C>A (p.Gly72=) |