Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.162103879C>A | CA3544792 | GABRG2 | c.594-10C>A c.752-10C>A (n.752-10C>A) n.523-10C>A c.715-10C>A c.347-10C>A (n.347-10C>A) c.632-10C>A (n.632-10C>A) n.694-10C>A c.509-10C>A c.23-10C>A (n.23-10C>A) c.560-10C>A (n.560-10C>A) c.107+35773C>A (n.107+35773C>A) c.566-10C>A (n.566-10C>A) n.3153C>A c.70-10C>A c.545-10C>A (n.545-10C>A) c.*234-10C>A (n.*234-10C>A) c.753-10C>A (n.753-10C>A) c.623-10C>A (n.623-10C>A) c.212-10C>A (n.212-10C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.162103879C= | CA1596365192 | GABRG2 | c.594-10C= c.752-10C= (n.752-10C=) n.523-10C= c.715-10C= c.347-10C= (n.347-10C=) c.632-10C= (n.632-10C=) n.694-10C= c.509-10C= c.23-10C= (n.23-10C=) c.560-10C= (n.560-10C=) c.107+35773C= (n.107+35773C=) c.566-10C= (n.566-10C=) n.3153C= c.70-10C= c.545-10C= (n.545-10C=) c.*234-10C= (n.*234-10C=) c.753-10C= (n.753-10C=) c.623-10C= (n.623-10C=) c.212-10C= (n.212-10C=) | |
5 | g.162103881C>A | CA2676328381 | GABRG2 | c.594-8C>A c.752-8C>A (n.752-8C>A) n.523-8C>A c.715-8C>A c.347-8C>A (n.347-8C>A) c.632-8C>A (n.632-8C>A) n.694-8C>A c.509-8C>A c.23-8C>A (n.23-8C>A) c.560-8C>A (n.560-8C>A) c.107+35775C>A (n.107+35775C>A) c.566-8C>A (n.566-8C>A) n.3155C>A c.70-8C>A c.545-8C>A (n.545-8C>A) c.*234-8C>A (n.*234-8C>A) c.753-8C>A (n.753-8C>A) c.623-8C>A (n.623-8C>A) c.212-8C>A (n.212-8C>A) | gnomAD v4 |
5 | g.162103881C= | CA1596365193 | GABRG2 | c.594-8C= c.752-8C= (n.752-8C=) n.523-8C= c.715-8C= c.347-8C= (n.347-8C=) c.632-8C= (n.632-8C=) n.694-8C= c.509-8C= c.23-8C= (n.23-8C=) c.560-8C= (n.560-8C=) c.107+35775C= (n.107+35775C=) c.566-8C= (n.566-8C=) n.3155C= c.70-8C= c.545-8C= (n.545-8C=) c.*234-8C= (n.*234-8C=) c.753-8C= (n.753-8C=) c.623-8C= (n.623-8C=) c.212-8C= (n.212-8C=) | |
5 | g.162103881C>T | CA3544793 | GABRG2 | c.594-8C>T c.752-8C>T (n.752-8C>T) n.523-8C>T c.715-8C>T c.347-8C>T (n.347-8C>T) c.632-8C>T (n.632-8C>T) n.694-8C>T c.509-8C>T c.23-8C>T (n.23-8C>T) c.560-8C>T (n.560-8C>T) c.107+35775C>T (n.107+35775C>T) c.566-8C>T (n.566-8C>T) n.3155C>T c.70-8C>T c.545-8C>T (n.545-8C>T) c.*234-8C>T (n.*234-8C>T) c.753-8C>T (n.753-8C>T) c.623-8C>T (n.623-8C>T) c.212-8C>T (n.212-8C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.162103882A= | CA1596365194 | GABRG2 | c.594-7A= c.752-7A= (n.752-7A=) n.523-7A= c.715-7A= c.347-7A= (n.347-7A=) c.632-7A= (n.632-7A=) n.694-7A= c.509-7A= c.23-7A= (n.23-7A=) c.560-7A= (n.560-7A=) c.107+35776A= (n.107+35776A=) c.566-7A= (n.566-7A=) n.3156A= c.70-7A= c.545-7A= (n.545-7A=) c.*234-7A= (n.*234-7A=) c.753-7A= (n.753-7A=) c.623-7A= (n.623-7A=) c.212-7A= (n.212-7A=) | |
5 | g.162103882A>C | CA2578474902 | GABRG2 | c.594-7A>C c.752-7A>C (n.752-7A>C) n.523-7A>C c.715-7A>C c.347-7A>C (n.347-7A>C) c.632-7A>C (n.632-7A>C) n.694-7A>C c.509-7A>C c.23-7A>C (n.23-7A>C) c.560-7A>C (n.560-7A>C) c.107+35776A>C (n.107+35776A>C) c.566-7A>C (n.566-7A>C) n.3156A>C c.70-7A>C c.545-7A>C (n.545-7A>C) c.*234-7A>C (n.*234-7A>C) c.753-7A>C (n.753-7A>C) c.623-7A>C (n.623-7A>C) c.212-7A>C (n.212-7A>C) | gnomAD v4 |
5 | g.162103882A>T | CA3544794 | GABRG2 | c.594-7A>T c.752-7A>T (n.752-7A>T) n.523-7A>T c.715-7A>T c.347-7A>T (n.347-7A>T) c.632-7A>T (n.632-7A>T) n.694-7A>T c.509-7A>T c.23-7A>T (n.23-7A>T) c.560-7A>T (n.560-7A>T) c.107+35776A>T (n.107+35776A>T) c.566-7A>T (n.566-7A>T) n.3156A>T c.70-7A>T c.545-7A>T (n.545-7A>T) c.*234-7A>T (n.*234-7A>T) c.753-7A>T (n.753-7A>T) c.623-7A>T (n.623-7A>T) c.212-7A>T (n.212-7A>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.162103882dup | CA2580073994 | GABRG2 | c.594-7dup c.752-7dup (n.752-7dup) n.523-7dup c.715-7dup c.347-7dup (n.347-7dup) c.632-7dup (n.632-7dup) n.694-7dup c.509-7dup c.23-7dup (n.23-7dup) c.560-7dup (n.560-7dup) c.107+35776dup (n.107+35776dup) c.566-7dup (n.566-7dup) n.3156dup c.70-7dup c.545-7dup (n.545-7dup) c.*234-7dup (n.*234-7dup) c.753-7dup (n.753-7dup) c.623-7dup (n.623-7dup) c.212-7dup (n.212-7dup) | ClinVar |
5 | g.162103883C= | CA1596365195 | GABRG2 | c.594-6C= c.752-6C= (n.752-6C=) n.523-6C= c.715-6C= c.347-6C= (n.347-6C=) c.632-6C= (n.632-6C=) n.694-6C= c.509-6C= c.23-6C= (n.23-6C=) c.560-6C= (n.560-6C=) c.107+35777C= (n.107+35777C=) c.566-6C= (n.566-6C=) n.3157C= c.70-6C= c.545-6C= (n.545-6C=) c.*234-6C= (n.*234-6C=) c.753-6C= (n.753-6C=) c.623-6C= (n.623-6C=) c.212-6C= (n.212-6C=) | |
5 | g.162103883C>T | CA3544795 | GABRG2 | c.594-6C>T c.752-6C>T (n.752-6C>T) n.523-6C>T c.715-6C>T c.347-6C>T (n.347-6C>T) c.632-6C>T (n.632-6C>T) n.694-6C>T c.509-6C>T c.23-6C>T (n.23-6C>T) c.560-6C>T (n.560-6C>T) c.107+35777C>T (n.107+35777C>T) c.566-6C>T (n.566-6C>T) n.3157C>T c.70-6C>T c.545-6C>T (n.545-6C>T) c.*234-6C>T (n.*234-6C>T) c.753-6C>T (n.753-6C>T) c.623-6C>T (n.623-6C>T) c.212-6C>T (n.212-6C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
5 | g.162103884G>A | CA1596365197 | GABRG2 | c.594-5G>A c.752-5G>A (n.752-5G>A) n.523-5G>A c.715-5G>A c.347-5G>A (n.347-5G>A) c.632-5G>A (n.632-5G>A) n.694-5G>A c.509-5G>A c.23-5G>A (n.23-5G>A) c.560-5G>A (n.560-5G>A) c.107+35778G>A (n.107+35778G>A) c.566-5G>A (n.566-5G>A) n.3158G>A c.70-5G>A c.545-5G>A (n.545-5G>A) c.*234-5G>A (n.*234-5G>A) c.753-5G>A (n.753-5G>A) c.623-5G>A (n.623-5G>A) c.212-5G>A (n.212-5G>A) | ClinVar dbSNP gnomAD v4 |
5 | g.162103884G= | CA1596365196 | GABRG2 | c.594-5G= c.752-5G= (n.752-5G=) n.523-5G= c.715-5G= c.347-5G= (n.347-5G=) c.632-5G= (n.632-5G=) n.694-5G= c.509-5G= c.23-5G= (n.23-5G=) c.560-5G= (n.560-5G=) c.107+35778G= (n.107+35778G=) c.566-5G= (n.566-5G=) n.3158G= c.70-5G= c.545-5G= (n.545-5G=) c.*234-5G= (n.*234-5G=) c.753-5G= (n.753-5G=) c.623-5G= (n.623-5G=) c.212-5G= (n.212-5G=) | |
5 | g.162103884G>T | CA2580073995 | GABRG2 | c.594-5G>T c.752-5G>T (n.752-5G>T) n.523-5G>T c.715-5G>T c.347-5G>T (n.347-5G>T) c.632-5G>T (n.632-5G>T) n.694-5G>T c.509-5G>T c.23-5G>T (n.23-5G>T) c.560-5G>T (n.560-5G>T) c.107+35778G>T (n.107+35778G>T) c.566-5G>T (n.566-5G>T) n.3158G>T c.70-5G>T c.545-5G>T (n.545-5G>T) c.*234-5G>T (n.*234-5G>T) c.753-5G>T (n.753-5G>T) c.623-5G>T (n.623-5G>T) c.212-5G>T (n.212-5G>T) | ClinVar gnomAD v4 |
5 | g.162103885G>A | CA2740094170 | GABRG2 | c.594-4G>A c.752-4G>A (n.752-4G>A) n.523-4G>A c.715-4G>A c.347-4G>A (n.347-4G>A) c.632-4G>A (n.632-4G>A) n.694-4G>A c.509-4G>A c.23-4G>A (n.23-4G>A) c.560-4G>A (n.560-4G>A) c.107+35779G>A (n.107+35779G>A) c.566-4G>A (n.566-4G>A) n.3159G>A c.70-4G>A c.545-4G>A (n.545-4G>A) c.*234-4G>A (n.*234-4G>A) c.753-4G>A (n.753-4G>A) c.623-4G>A (n.623-4G>A) c.212-4G>A (n.212-4G>A) | ClinVar |
5 | g.162103887A>C | CA362184954 | GABRG2 | c.594-2A>C c.752-2A>C (n.752-2A>C) n.523-2A>C c.715-2A>C c.347-2A>C (n.347-2A>C) c.632-2A>C (n.632-2A>C) n.694-2A>C c.509-2A>C c.23-2A>C (n.23-2A>C) c.560-2A>C (n.560-2A>C) c.107+35781A>C (n.107+35781A>C) c.566-2A>C (n.566-2A>C) n.3161A>C c.70-2A>C c.545-2A>C (n.545-2A>C) c.*234-2A>C (n.*234-2A>C) c.753-2A>C (n.753-2A>C) c.623-2A>C (n.623-2A>C) c.212-2A>C (n.212-2A>C) | |
5 | g.162103887A>G | CA362184955 | GABRG2 | c.594-2A>G c.752-2A>G (n.752-2A>G) n.523-2A>G c.715-2A>G c.347-2A>G (n.347-2A>G) c.632-2A>G (n.632-2A>G) n.694-2A>G c.509-2A>G c.23-2A>G (n.23-2A>G) c.560-2A>G (n.560-2A>G) c.107+35781A>G (n.107+35781A>G) c.566-2A>G (n.566-2A>G) n.3161A>G c.70-2A>G c.545-2A>G (n.545-2A>G) c.*234-2A>G (n.*234-2A>G) c.753-2A>G (n.753-2A>G) c.623-2A>G (n.623-2A>G) c.212-2A>G (n.212-2A>G) | |
5 | g.162103887A>T | CA362184956 | GABRG2 | c.594-2A>T c.752-2A>T (n.752-2A>T) n.523-2A>T c.715-2A>T c.347-2A>T (n.347-2A>T) c.632-2A>T (n.632-2A>T) n.694-2A>T c.509-2A>T c.23-2A>T (n.23-2A>T) c.560-2A>T (n.560-2A>T) c.107+35781A>T (n.107+35781A>T) c.566-2A>T (n.566-2A>T) n.3161A>T c.70-2A>T c.545-2A>T (n.545-2A>T) c.*234-2A>T (n.*234-2A>T) c.753-2A>T (n.753-2A>T) c.623-2A>T (n.623-2A>T) c.212-2A>T (n.212-2A>T) | ClinVar dbSNP |
5 | g.162103888G>A | CA362184957 | GABRG2 | c.594-1G>A c.752-1G>A (n.752-1G>A) n.523-1G>A c.715-1G>A c.347-1G>A (n.347-1G>A) c.632-1G>A (n.632-1G>A) n.694-1G>A c.509-1G>A c.23-1G>A (n.23-1G>A) c.560-1G>A (n.560-1G>A) c.107+35782G>A (n.107+35782G>A) c.566-1G>A (n.566-1G>A) n.3162G>A c.70-1G>A c.545-1G>A (n.545-1G>A) c.*234-1G>A (n.*234-1G>A) c.753-1G>A (n.753-1G>A) c.623-1G>A (n.623-1G>A) c.212-1G>A (n.212-1G>A) | |
5 | g.162103888G>C | CA362184958 | GABRG2 | c.594-1G>C c.752-1G>C (n.752-1G>C) n.523-1G>C c.715-1G>C c.347-1G>C (n.347-1G>C) c.632-1G>C (n.632-1G>C) n.694-1G>C c.509-1G>C c.23-1G>C (n.23-1G>C) c.560-1G>C (n.560-1G>C) c.107+35782G>C (n.107+35782G>C) c.566-1G>C (n.566-1G>C) n.3162G>C c.70-1G>C c.545-1G>C (n.545-1G>C) c.*234-1G>C (n.*234-1G>C) c.753-1G>C (n.753-1G>C) c.623-1G>C (n.623-1G>C) c.212-1G>C (n.212-1G>C) | |
5 | g.162103888G>T | CA362184959 | GABRG2 | c.594-1G>T c.752-1G>T (n.752-1G>T) n.523-1G>T c.715-1G>T c.347-1G>T (n.347-1G>T) c.632-1G>T (n.632-1G>T) n.694-1G>T c.509-1G>T c.23-1G>T (n.23-1G>T) c.560-1G>T (n.560-1G>T) c.107+35782G>T (n.107+35782G>T) c.566-1G>T (n.566-1G>T) n.3162G>T c.70-1G>T c.545-1G>T (n.545-1G>T) c.*234-1G>T (n.*234-1G>T) c.753-1G>T (n.753-1G>T) c.623-1G>T (n.623-1G>T) c.212-1G>T (n.212-1G>T) | |
5 | g.162103889A>C | CA362184961 | GABRG2 | c.594A>C c.752A>C (p.Asp251Ala) n.523A>C c.715A>C c.347A>C (p.Tyr116Ser) c.632A>C (p.Tyr211Ser) n.694A>C c.509A>C c.23A>C (p.Asp8Ala) c.560A>C (p.Tyr187Ser) c.107+35783A>C (n.107+35783A>C) c.566A>C (p.Tyr189Ser) n.3163A>C c.70A>C c.545A>C (p.Tyr182Ser) c.*234A>C (n.*234A>C) c.753A>C (n.753A>C) c.623A>C (p.Tyr208Ser) c.212A>C (p.Tyr71Ser) | |
5 | g.162103889A>G | CA362184962 | GABRG2 | c.594A>G c.752A>G (p.Asp251Gly) n.523A>G c.715A>G c.347A>G (p.Tyr116Cys) c.632A>G (p.Tyr211Cys) n.694A>G c.509A>G c.23A>G (p.Asp8Gly) c.560A>G (p.Tyr187Cys) c.107+35783A>G (n.107+35783A>G) c.566A>G (p.Tyr189Cys) n.3163A>G c.70A>G c.545A>G (p.Tyr182Cys) c.*234A>G (n.*234A>G) c.753A>G (n.753A>G) c.623A>G (p.Tyr208Cys) c.212A>G (p.Tyr71Cys) | |
5 | g.162103889A>T | CA362184960 | GABRG2 | c.594A>T c.752A>T (p.Asp251Val) n.523A>T c.715A>T c.347A>T (p.Tyr116Phe) c.632A>T (p.Tyr211Phe) n.694A>T c.509A>T c.23A>T (p.Asp8Val) c.560A>T (p.Tyr187Phe) c.107+35783A>T (n.107+35783A>T) c.566A>T (p.Tyr189Phe) n.3163A>T c.70A>T c.545A>T (p.Tyr182Phe) c.*234A>T (n.*234A>T) c.753A>T (n.753A>T) c.623A>T (p.Tyr208Phe) c.212A>T (p.Tyr71Phe) | |
5 | g.162103890T>A | CA3544796 | GABRG2 | c.595T>A c.753T>A (p.Asp251Glu) n.524T>A c.716T>A c.348T>A (p.Tyr116Ter) c.633T>A (p.Tyr211Ter) n.695T>A c.510T>A c.24T>A (p.Asp8Glu) c.561T>A (p.Tyr187Ter) c.107+35784T>A (n.107+35784T>A) c.567T>A (p.Tyr189Ter) n.3164T>A c.71T>A c.546T>A (p.Tyr182Ter) c.*235T>A (n.*235T>A) c.754T>A (n.754T>A) c.624T>A (p.Tyr208Ter) c.213T>A (p.Tyr71Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.162103890T>C | CA447609914 | GABRG2 | c.595T>C c.753T>C (p.Asp251=) n.524T>C c.716T>C c.348T>C (p.Tyr116=) c.633T>C (p.Tyr211=) n.695T>C c.510T>C c.24T>C (p.Asp8=) c.561T>C (p.Tyr187=) c.107+35784T>C (n.107+35784T>C) c.567T>C (p.Tyr189=) n.3164T>C c.71T>C c.546T>C (p.Tyr182=) c.*235T>C (n.*235T>C) c.754T>C (n.754T>C) c.624T>C (p.Tyr208=) c.213T>C (p.Tyr71=) | |
5 | g.162103890T>G | CA362184963 | GABRG2 | c.595T>G c.753T>G (p.Asp251Glu) n.524T>G c.716T>G c.348T>G (p.Tyr116Ter) c.633T>G (p.Tyr211Ter) n.695T>G c.510T>G c.24T>G (p.Asp8Glu) c.561T>G (p.Tyr187Ter) c.107+35784T>G (n.107+35784T>G) c.567T>G (p.Tyr189Ter) n.3164T>G c.71T>G c.546T>G (p.Tyr182Ter) c.*235T>G (n.*235T>G) c.754T>G (n.754T>G) c.624T>G (p.Tyr208Ter) c.213T>G (p.Tyr71Ter) | |
5 | g.162103890T= | CA1596365198 | GABRG2 | c.595T= c.753T= (p.Asp251=) n.524T= c.716T= c.348T= (p.Tyr116=) c.633T= (p.Tyr211=) n.695T= c.510T= c.24T= (p.Asp8=) c.561T= (p.Tyr187=) c.107+35784T= (n.107+35784T=) c.567T= (p.Tyr189=) n.3164T= c.71T= c.546T= (p.Tyr182=) c.*235T= (n.*235T=) c.754T= (n.754T=) c.624T= (p.Tyr208=) c.213T= (p.Tyr71=) | |
5 | g.162103891G>A | CA362184964 | GABRG2 | c.596G>A c.754G>A (p.Gly252Ser) n.525G>A c.717G>A c.349G>A (p.Gly117Ser) c.634G>A (p.Gly212Ser) n.696G>A c.511G>A c.25G>A (p.Gly9Ser) c.562G>A (p.Gly188Ser) c.107+35785G>A (n.107+35785G>A) c.568G>A (p.Gly190Ser) n.3165G>A c.72G>A c.547G>A (p.Gly183Ser) c.*236G>A (n.*236G>A) c.755G>A (n.755G>A) c.625G>A (p.Gly209Ser) c.214G>A (p.Gly72Ser) | |
5 | g.162103891G>C | CA362184965 | GABRG2 | c.596G>C c.754G>C (p.Gly252Arg) n.525G>C c.717G>C c.349G>C (p.Gly117Arg) c.634G>C (p.Gly212Arg) n.696G>C c.511G>C c.25G>C (p.Gly9Arg) c.562G>C (p.Gly188Arg) c.107+35785G>C (n.107+35785G>C) c.568G>C (p.Gly190Arg) n.3165G>C c.72G>C c.547G>C (p.Gly183Arg) c.*236G>C (n.*236G>C) c.755G>C (n.755G>C) c.625G>C (p.Gly209Arg) c.214G>C (p.Gly72Arg) | |
5 | g.162103891G>T | CA362184966 | GABRG2 | c.596G>T c.754G>T (p.Gly252Cys) n.525G>T c.717G>T c.349G>T (p.Gly117Cys) c.634G>T (p.Gly212Cys) n.696G>T c.511G>T c.25G>T (p.Gly9Cys) c.562G>T (p.Gly188Cys) c.107+35785G>T (n.107+35785G>T) c.568G>T (p.Gly190Cys) n.3165G>T c.72G>T c.547G>T (p.Gly183Cys) c.*236G>T (n.*236G>T) c.755G>T (n.755G>T) c.625G>T (p.Gly209Cys) c.214G>T (p.Gly72Cys) | |
5 | g.162103892G>A | CA362184967 | GABRG2 | c.597G>A c.755G>A (p.Gly252Asp) n.526G>A c.718G>A c.350G>A (p.Gly117Asp) c.635G>A (p.Gly212Asp) n.697G>A c.512G>A c.26G>A (p.Gly9Asp) c.563G>A (p.Gly188Asp) c.107+35786G>A (n.107+35786G>A) c.569G>A (p.Gly190Asp) n.3166G>A c.73G>A c.548G>A (p.Gly183Asp) c.*237G>A (n.*237G>A) c.756G>A (n.756G>A) c.626G>A (p.Gly209Asp) c.215G>A (p.Gly72Asp) | |
5 | g.162103892G>C | CA362184968 | GABRG2 | c.597G>C c.755G>C (p.Gly252Ala) n.526G>C c.718G>C c.350G>C (p.Gly117Ala) c.635G>C (p.Gly212Ala) n.697G>C c.512G>C c.26G>C (p.Gly9Ala) c.563G>C (p.Gly188Ala) c.107+35786G>C (n.107+35786G>C) c.569G>C (p.Gly190Ala) n.3166G>C c.73G>C c.548G>C (p.Gly183Ala) c.*237G>C (n.*237G>C) c.756G>C (n.756G>C) c.626G>C (p.Gly209Ala) c.215G>C (p.Gly72Ala) | |
5 | g.162103892G>T | CA362184969 | GABRG2 | c.597G>T c.755G>T (p.Gly252Val) n.526G>T c.718G>T c.350G>T (p.Gly117Val) c.635G>T (p.Gly212Val) n.697G>T c.512G>T c.26G>T (p.Gly9Val) c.563G>T (p.Gly188Val) c.107+35786G>T (n.107+35786G>T) c.569G>T (p.Gly190Val) n.3166G>T c.73G>T c.548G>T (p.Gly183Val) c.*237G>T (n.*237G>T) c.756G>T (n.756G>T) c.626G>T (p.Gly209Val) c.215G>T (p.Gly72Val) | |
5 | g.162103893C>A | CA447609918 | GABRG2 | c.598C>A c.756C>A (p.Gly252=) n.527C>A c.719C>A c.351C>A (p.Gly117=) c.636C>A (p.Gly212=) n.698C>A c.513C>A c.27C>A (p.Gly9=) c.564C>A (p.Gly188=) c.107+35787C>A (n.107+35787C>A) c.570C>A (p.Gly190=) n.3167C>A c.74C>A c.549C>A (p.Gly183=) c.*238C>A (n.*238C>A) c.757C>A (n.757C>A) c.627C>A (p.Gly209=) c.216C>A (p.Gly72=) | |
5 | g.162103893C= | CA1596365199 | GABRG2 | c.598C= c.756C= (p.Gly252=) n.527C= c.719C= c.351C= (p.Gly117=) c.636C= (p.Gly212=) n.698C= c.513C= c.27C= (p.Gly9=) c.564C= (p.Gly188=) c.107+35787C= (n.107+35787C=) c.570C= (p.Gly190=) n.3167C= c.74C= c.549C= (p.Gly183=) c.*238C= (n.*238C=) c.757C= (n.757C=) c.627C= (p.Gly209=) c.216C= (p.Gly72=) | |
5 | g.162103893C>G | CA447609919 | GABRG2 | c.598C>G c.756C>G (p.Gly252=) n.527C>G c.719C>G c.351C>G (p.Gly117=) c.636C>G (p.Gly212=) n.698C>G c.513C>G c.27C>G (p.Gly9=) c.564C>G (p.Gly188=) c.107+35787C>G (n.107+35787C>G) c.570C>G (p.Gly190=) n.3167C>G c.74C>G c.549C>G (p.Gly183=) c.*238C>G (n.*238C>G) c.757C>G (n.757C>G) c.627C>G (p.Gly209=) c.216C>G (p.Gly72=) | |
5 | g.162103893C>T | CA447609921 | GABRG2 | c.598C>T c.756C>T (p.Gly252=) n.527C>T c.719C>T c.351C>T (p.Gly117=) c.636C>T (p.Gly212=) n.698C>T c.513C>T c.27C>T (p.Gly9=) c.564C>T (p.Gly188=) c.107+35787C>T (n.107+35787C>T) c.570C>T (p.Gly190=) n.3167C>T c.74C>T c.549C>T (p.Gly183=) c.*238C>T (n.*238C>T) c.757C>T (n.757C>T) c.627C>T (p.Gly209=) c.216C>T (p.Gly72=) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.162103894T>A | CA362184970 | GABRG2 | c.599T>A c.757T>A (p.Tyr253Asn) n.528T>A c.720T>A c.352T>A (p.Tyr118Asn) c.637T>A (p.Tyr213Asn) n.699T>A c.514T>A c.28T>A (p.Tyr10Asn) c.565T>A (p.Tyr189Asn) c.107+35788T>A (n.107+35788T>A) c.571T>A (p.Tyr191Asn) n.3168T>A c.75T>A c.550T>A (p.Tyr184Asn) c.*239T>A (n.*239T>A) c.758T>A (n.758T>A) c.628T>A (p.Tyr210Asn) c.217T>A (p.Tyr73Asn) | COSMIC |
5 | g.162103894T>C | CA362184971 | GABRG2 | c.599T>C c.757T>C (p.Tyr253His) n.528T>C c.720T>C c.352T>C (p.Tyr118His) c.637T>C (p.Tyr213His) n.699T>C c.514T>C c.28T>C (p.Tyr10His) c.565T>C (p.Tyr189His) c.107+35788T>C (n.107+35788T>C) c.571T>C (p.Tyr191His) n.3168T>C c.75T>C c.550T>C (p.Tyr184His) c.*239T>C (n.*239T>C) c.758T>C (n.758T>C) c.628T>C (p.Tyr210His) c.217T>C (p.Tyr73His) | |
5 | g.162103894T>G | CA362184972 | GABRG2 | c.599T>G c.757T>G (p.Tyr253Asp) n.528T>G c.720T>G c.352T>G (p.Tyr118Asp) c.637T>G (p.Tyr213Asp) n.699T>G c.514T>G c.28T>G (p.Tyr10Asp) c.565T>G (p.Tyr189Asp) c.107+35788T>G (n.107+35788T>G) c.571T>G (p.Tyr191Asp) n.3168T>G c.75T>G c.550T>G (p.Tyr184Asp) c.*239T>G (n.*239T>G) c.758T>G (n.758T>G) c.628T>G (p.Tyr210Asp) c.217T>G (p.Tyr73Asp) | |
5 | g.162103895A>C | CA362184974 | GABRG2 | c.600A>C c.758A>C (p.Tyr253Ser) n.529A>C c.721A>C c.353A>C (p.Tyr118Ser) c.638A>C (p.Tyr213Ser) n.700A>C c.515A>C c.29A>C (p.Tyr10Ser) c.566A>C (p.Tyr189Ser) c.107+35789A>C (n.107+35789A>C) c.572A>C (p.Tyr191Ser) n.3169A>C c.76A>C c.551A>C (p.Tyr184Ser) c.*240A>C (n.*240A>C) c.759A>C (n.759A>C) c.629A>C (p.Tyr210Ser) c.218A>C (p.Tyr73Ser) | |
5 | g.162103895A>G | CA362184975 | GABRG2 | c.600A>G c.758A>G (p.Tyr253Cys) n.529A>G c.721A>G c.353A>G (p.Tyr118Cys) c.638A>G (p.Tyr213Cys) n.700A>G c.515A>G c.29A>G (p.Tyr10Cys) c.566A>G (p.Tyr189Cys) c.107+35789A>G (n.107+35789A>G) c.572A>G (p.Tyr191Cys) n.3169A>G c.76A>G c.551A>G (p.Tyr184Cys) c.*240A>G (n.*240A>G) c.759A>G (n.759A>G) c.629A>G (p.Tyr210Cys) c.218A>G (p.Tyr73Cys) | |
5 | g.162103895A>T | CA362184973 | GABRG2 | c.600A>T c.758A>T (p.Tyr253Phe) n.529A>T c.721A>T c.353A>T (p.Tyr118Phe) c.638A>T (p.Tyr213Phe) n.700A>T c.515A>T c.29A>T (p.Tyr10Phe) c.566A>T (p.Tyr189Phe) c.107+35789A>T (n.107+35789A>T) c.572A>T (p.Tyr191Phe) n.3169A>T c.76A>T c.551A>T (p.Tyr184Phe) c.*240A>T (n.*240A>T) c.759A>T (n.759A>T) c.629A>T (p.Tyr210Phe) c.218A>T (p.Tyr73Phe) | |
5 | g.162103896T>A | CA362184976 | GABRG2 | c.601T>A c.759T>A (p.Tyr253Ter) n.530T>A c.722T>A c.354T>A (p.Tyr118Ter) c.639T>A (p.Tyr213Ter) n.701T>A c.516T>A c.30T>A (p.Tyr10Ter) c.567T>A (p.Tyr189Ter) c.107+35790T>A (n.107+35790T>A) c.573T>A (p.Tyr191Ter) n.3170T>A c.77T>A c.552T>A (p.Tyr184Ter) c.*241T>A (n.*241T>A) c.760T>A (n.760T>A) c.630T>A (p.Tyr210Ter) c.219T>A (p.Tyr73Ter) | |
5 | g.162103896T>C | CA447609922 | GABRG2 | c.601T>C c.759T>C (p.Tyr253=) n.530T>C c.722T>C c.354T>C (p.Tyr118=) c.639T>C (p.Tyr213=) n.701T>C c.516T>C c.30T>C (p.Tyr10=) c.567T>C (p.Tyr189=) c.107+35790T>C (n.107+35790T>C) c.573T>C (p.Tyr191=) n.3170T>C c.77T>C c.552T>C (p.Tyr184=) c.*241T>C (n.*241T>C) c.760T>C (n.760T>C) c.630T>C (p.Tyr210=) c.219T>C (p.Tyr73=) | |
5 | g.162103896T>G | CA362184977 | GABRG2 | c.601T>G c.759T>G (p.Tyr253Ter) n.530T>G c.722T>G c.354T>G (p.Tyr118Ter) c.639T>G (p.Tyr213Ter) n.701T>G c.516T>G c.30T>G (p.Tyr10Ter) c.567T>G (p.Tyr189Ter) c.107+35790T>G (n.107+35790T>G) c.573T>G (p.Tyr191Ter) n.3170T>G c.77T>G c.552T>G (p.Tyr184Ter) c.*241T>G (n.*241T>G) c.760T>G (n.760T>G) c.630T>G (p.Tyr210Ter) c.219T>G (p.Tyr73Ter) | |
5 | g.162103897C>A | CA362184978 | GABRG2 | c.602C>A c.760C>A (p.Pro254Thr) n.531C>A c.723C>A c.355C>A (p.Pro119Thr) c.640C>A (p.Pro214Thr) n.702C>A c.517C>A c.31C>A (p.Pro11Thr) c.568C>A (p.Pro190Thr) c.107+35791C>A (n.107+35791C>A) c.574C>A (p.Pro192Thr) n.3171C>A c.78C>A c.553C>A (p.Pro185Thr) c.*242C>A (n.*242C>A) c.761C>A (n.761C>A) c.631C>A (p.Pro211Thr) c.220C>A (p.Pro74Thr) | |
5 | g.162103897C>G | CA362184979 | GABRG2 | c.602C>G c.760C>G (p.Pro254Ala) n.531C>G c.723C>G c.355C>G (p.Pro119Ala) c.640C>G (p.Pro214Ala) n.702C>G c.517C>G c.31C>G (p.Pro11Ala) c.568C>G (p.Pro190Ala) c.107+35791C>G (n.107+35791C>G) c.574C>G (p.Pro192Ala) n.3171C>G c.78C>G c.553C>G (p.Pro185Ala) c.*242C>G (n.*242C>G) c.761C>G (n.761C>G) c.631C>G (p.Pro211Ala) c.220C>G (p.Pro74Ala) | |
5 | g.162103897C>T | CA362184980 | GABRG2 | c.602C>T c.760C>T (p.Pro254Ser) n.531C>T c.723C>T c.355C>T (p.Pro119Ser) c.640C>T (p.Pro214Ser) n.702C>T c.517C>T c.31C>T (p.Pro11Ser) c.568C>T (p.Pro190Ser) c.107+35791C>T (n.107+35791C>T) c.574C>T (p.Pro192Ser) n.3171C>T c.78C>T c.553C>T (p.Pro185Ser) c.*242C>T (n.*242C>T) c.761C>T (n.761C>T) c.631C>T (p.Pro211Ser) c.220C>T (p.Pro74Ser) | |
5 | g.162103898C>A | CA362184983 | GABRG2 | c.603C>A c.761C>A (p.Pro254Gln) n.532C>A c.724C>A c.356C>A (p.Pro119Gln) c.641C>A (p.Pro214Gln) n.703C>A c.518C>A c.32C>A (p.Pro11Gln) c.569C>A (p.Pro190Gln) c.107+35792C>A (n.107+35792C>A) c.575C>A (p.Pro192Gln) n.3172C>A c.79C>A c.554C>A (p.Pro185Gln) c.*243C>A (n.*243C>A) c.762C>A (n.762C>A) c.632C>A (p.Pro211Gln) c.221C>A (p.Pro74Gln) | |
5 | g.162103898C>G | CA362184981 | GABRG2 | c.603C>G c.761C>G (p.Pro254Arg) n.532C>G c.724C>G c.356C>G (p.Pro119Arg) c.641C>G (p.Pro214Arg) n.703C>G c.518C>G c.32C>G (p.Pro11Arg) c.569C>G (p.Pro190Arg) c.107+35792C>G (n.107+35792C>G) c.575C>G (p.Pro192Arg) n.3172C>G c.79C>G c.554C>G (p.Pro185Arg) c.*243C>G (n.*243C>G) c.762C>G (n.762C>G) c.632C>G (p.Pro211Arg) c.221C>G (p.Pro74Arg) | |
5 | g.162103898C>T | CA362184982 | GABRG2 | c.603C>T c.761C>T (p.Pro254Leu) n.532C>T c.724C>T c.356C>T (p.Pro119Leu) c.641C>T (p.Pro214Leu) n.703C>T c.518C>T c.32C>T (p.Pro11Leu) c.569C>T (p.Pro190Leu) c.107+35792C>T (n.107+35792C>T) c.575C>T (p.Pro192Leu) n.3172C>T c.79C>T c.554C>T (p.Pro185Leu) c.*243C>T (n.*243C>T) c.762C>T (n.762C>T) c.632C>T (p.Pro211Leu) c.221C>T (p.Pro74Leu) | |
5 | g.162103899A= | CA1596365200 | GABRG2 | c.604A= c.762A= (p.Pro254=) n.533A= c.725A= c.357A= (p.Pro119=) c.642A= (p.Pro214=) n.704A= c.519A= c.33A= (p.Pro11=) c.570A= (p.Pro190=) c.107+35793A= (n.107+35793A=) c.576A= (p.Pro192=) n.3173A= c.80A= c.555A= (p.Pro185=) c.*244A= (n.*244A=) c.763A= (n.763A=) c.633A= (p.Pro211=) c.222A= (p.Pro74=) | |
5 | g.162103899A>C | CA131112327 | GABRG2 | c.604A>C c.762A>C (p.Pro254=) n.533A>C c.725A>C c.357A>C (p.Pro119=) c.642A>C (p.Pro214=) n.704A>C c.519A>C c.33A>C (p.Pro11=) c.570A>C (p.Pro190=) c.107+35793A>C (n.107+35793A>C) c.576A>C (p.Pro192=) n.3173A>C c.80A>C c.555A>C (p.Pro185=) c.*244A>C (n.*244A>C) c.763A>C (n.763A>C) c.633A>C (p.Pro211=) c.222A>C (p.Pro74=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
5 | g.162103899A>G | CA447609925 | GABRG2 | c.604A>G c.762A>G (p.Pro254=) n.533A>G c.725A>G c.357A>G (p.Pro119=) c.642A>G (p.Pro214=) n.704A>G c.519A>G c.33A>G (p.Pro11=) c.570A>G (p.Pro190=) c.107+35793A>G (n.107+35793A>G) c.576A>G (p.Pro192=) n.3173A>G c.80A>G c.555A>G (p.Pro185=) c.*244A>G (n.*244A>G) c.763A>G (n.763A>G) c.633A>G (p.Pro211=) c.222A>G (p.Pro74=) | |
5 | g.162103899A>T | CA447609926 | GABRG2 | c.604A>T c.762A>T (p.Pro254=) n.533A>T c.725A>T c.357A>T (p.Pro119=) c.642A>T (p.Pro214=) n.704A>T c.519A>T c.33A>T (p.Pro11=) c.570A>T (p.Pro190=) c.107+35793A>T (n.107+35793A>T) c.576A>T (p.Pro192=) n.3173A>T c.80A>T c.555A>T (p.Pro185=) c.*244A>T (n.*244A>T) c.763A>T (n.763A>T) c.633A>T (p.Pro211=) c.222A>T (p.Pro74=) | |
5 | g.162103900C>A | CA362184984 | GABRG2 | c.605C>A c.763C>A (p.Arg255Ser) n.534C>A c.726C>A c.358C>A (p.Arg120Ser) c.643C>A (p.Arg215Ser) n.705C>A c.520C>A c.34C>A (p.Arg12Ser) c.571C>A (p.Arg191Ser) c.107+35794C>A (n.107+35794C>A) c.577C>A (p.Arg193Ser) n.3174C>A c.81C>A c.556C>A (p.Arg186Ser) c.*245C>A (n.*245C>A) c.764C>A (n.764C>A) c.634C>A (p.Arg212Ser) c.223C>A (p.Arg75Ser) | ClinVar gnomAD v4 |
5 | g.162103900C= | CA1596365201 | GABRG2 | c.605C= c.763C= (p.Arg255=) n.534C= c.726C= c.358C= (p.Arg120=) c.643C= (p.Arg215=) n.705C= c.520C= c.34C= (p.Arg12=) c.571C= (p.Arg191=) c.107+35794C= (n.107+35794C=) c.577C= (p.Arg193=) n.3174C= c.81C= c.556C= (p.Arg186=) c.*245C= (n.*245C=) c.764C= (n.764C=) c.634C= (p.Arg212=) c.223C= (p.Arg75=) | |
5 | g.162103900C>G | CA362184985 | GABRG2 | c.605C>G c.763C>G (p.Arg255Gly) n.534C>G c.726C>G c.358C>G (p.Arg120Gly) c.643C>G (p.Arg215Gly) n.705C>G c.520C>G c.34C>G (p.Arg12Gly) c.571C>G (p.Arg191Gly) c.107+35794C>G (n.107+35794C>G) c.577C>G (p.Arg193Gly) n.3174C>G c.81C>G c.556C>G (p.Arg186Gly) c.*245C>G (n.*245C>G) c.764C>G (n.764C>G) c.634C>G (p.Arg212Gly) c.223C>G (p.Arg75Gly) | |
5 | g.162103900C>T | CA3544797 | GABRG2 | c.605C>T c.763C>T (p.Arg255Cys) n.534C>T c.726C>T c.358C>T (p.Arg120Cys) c.643C>T (p.Arg215Cys) n.705C>T c.520C>T c.34C>T (p.Arg12Cys) c.571C>T (p.Arg191Cys) c.107+35794C>T (n.107+35794C>T) c.577C>T (p.Arg193Cys) n.3174C>T c.81C>T c.556C>T (p.Arg186Cys) c.*245C>T (n.*245C>T) c.764C>T (n.764C>T) c.634C>T (p.Arg212Cys) c.223C>T (p.Arg75Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.162103901G>A | CA362184986 | GABRG2 | c.606G>A c.764G>A (p.Arg255His) n.535G>A c.727G>A c.359G>A (p.Arg120His) c.644G>A (p.Arg215His) n.706G>A c.521G>A c.35G>A (p.Arg12His) c.572G>A (p.Arg191His) c.107+35795G>A (n.107+35795G>A) c.578G>A (p.Arg193His) n.3175G>A c.82G>A c.557G>A (p.Arg186His) c.*246G>A (n.*246G>A) c.765G>A (n.765G>A) c.635G>A (p.Arg212His) c.224G>A (p.Arg75His) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
5 | g.162103901G>C | CA362184987 | GABRG2 | c.606G>C c.764G>C (p.Arg255Pro) n.535G>C c.727G>C c.359G>C (p.Arg120Pro) c.644G>C (p.Arg215Pro) n.706G>C c.521G>C c.35G>C (p.Arg12Pro) c.572G>C (p.Arg191Pro) c.107+35795G>C (n.107+35795G>C) c.578G>C (p.Arg193Pro) n.3175G>C c.82G>C c.557G>C (p.Arg186Pro) c.*246G>C (n.*246G>C) c.765G>C (n.765G>C) c.635G>C (p.Arg212Pro) c.224G>C (p.Arg75Pro) | ClinVar dbSNP gnomAD v4 |
5 | g.162103901G= | CA1596365202 | GABRG2 | c.606G= c.764G= (p.Arg255=) n.535G= c.727G= c.359G= (p.Arg120=) c.644G= (p.Arg215=) n.706G= c.521G= c.35G= (p.Arg12=) c.572G= (p.Arg191=) c.107+35795G= (n.107+35795G=) c.578G= (p.Arg193=) n.3175G= c.82G= c.557G= (p.Arg186=) c.*246G= (n.*246G=) c.765G= (n.765G=) c.635G= (p.Arg212=) c.224G= (p.Arg75=) | |
5 | g.162103901G>T | CA362184988 | GABRG2 | c.606G>T c.764G>T (p.Arg255Leu) n.535G>T c.727G>T c.359G>T (p.Arg120Leu) c.644G>T (p.Arg215Leu) n.706G>T c.521G>T c.35G>T (p.Arg12Leu) c.572G>T (p.Arg191Leu) c.107+35795G>T (n.107+35795G>T) c.578G>T (p.Arg193Leu) n.3175G>T c.82G>T c.557G>T (p.Arg186Leu) c.*246G>T (n.*246G>T) c.765G>T (n.765G>T) c.635G>T (p.Arg212Leu) c.224G>T (p.Arg75Leu) | ClinVar dbSNP gnomAD v4 |
5 | g.162103902T>A | CA447609927 | GABRG2 | c.607T>A c.765T>A (p.Arg255=) n.536T>A c.728T>A c.360T>A (p.Arg120=) c.645T>A (p.Arg215=) n.707T>A c.522T>A c.36T>A (p.Arg12=) c.573T>A (p.Arg191=) c.107+35796T>A (n.107+35796T>A) c.579T>A (p.Arg193=) n.3176T>A c.83T>A c.558T>A (p.Arg186=) c.*247T>A (n.*247T>A) c.766T>A (n.766T>A) c.636T>A (p.Arg212=) c.225T>A (p.Arg75=) | |
5 | g.162103902T>C | CA447609928 | GABRG2 | c.607T>C c.765T>C (p.Arg255=) n.536T>C c.728T>C c.360T>C (p.Arg120=) c.645T>C (p.Arg215=) n.707T>C c.522T>C c.36T>C (p.Arg12=) c.573T>C (p.Arg191=) c.107+35796T>C (n.107+35796T>C) c.579T>C (p.Arg193=) n.3176T>C c.83T>C c.558T>C (p.Arg186=) c.*247T>C (n.*247T>C) c.766T>C (n.766T>C) c.636T>C (p.Arg212=) c.225T>C (p.Arg75=) | |
5 | g.162103902T>G | CA447609929 | GABRG2 | c.607T>G c.765T>G (p.Arg255=) n.536T>G c.728T>G c.360T>G (p.Arg120=) c.645T>G (p.Arg215=) n.707T>G c.522T>G c.36T>G (p.Arg12=) c.573T>G (p.Arg191=) c.107+35796T>G (n.107+35796T>G) c.579T>G (p.Arg193=) n.3176T>G c.83T>G c.558T>G (p.Arg186=) c.*247T>G (n.*247T>G) c.766T>G (n.766T>G) c.636T>G (p.Arg212=) c.225T>G (p.Arg75=) | |
5 | g.162103903G>A | CA362184990 | GABRG2 | c.608G>A c.766G>A (p.Glu256Lys) n.537G>A c.729G>A c.361G>A (p.Glu121Lys) c.646G>A (p.Glu216Lys) n.708G>A c.523G>A c.37G>A (p.Glu13Lys) c.574G>A (p.Glu192Lys) c.107+35797G>A (n.107+35797G>A) c.580G>A (p.Glu194Lys) n.3177G>A c.84G>A c.559G>A (p.Glu187Lys) c.*248G>A (n.*248G>A) c.767G>A (n.767G>A) c.637G>A (p.Glu213Lys) c.226G>A (p.Glu76Lys) | |
5 | g.162103903G>C | CA362184991 | GABRG2 | c.608G>C c.766G>C (p.Glu256Gln) n.537G>C c.729G>C c.361G>C (p.Glu121Gln) c.646G>C (p.Glu216Gln) n.708G>C c.523G>C c.37G>C (p.Glu13Gln) c.574G>C (p.Glu192Gln) c.107+35797G>C (n.107+35797G>C) c.580G>C (p.Glu194Gln) n.3177G>C c.84G>C c.559G>C (p.Glu187Gln) c.*248G>C (n.*248G>C) c.767G>C (n.767G>C) c.637G>C (p.Glu213Gln) c.226G>C (p.Glu76Gln) | |
5 | g.162103903G>T | CA362184989 | GABRG2 | c.608G>T c.766G>T (p.Glu256Ter) n.537G>T c.729G>T c.361G>T (p.Glu121Ter) c.646G>T (p.Glu216Ter) n.708G>T c.523G>T c.37G>T (p.Glu13Ter) c.574G>T (p.Glu192Ter) c.107+35797G>T (n.107+35797G>T) c.580G>T (p.Glu194Ter) n.3177G>T c.84G>T c.559G>T (p.Glu187Ter) c.*248G>T (n.*248G>T) c.767G>T (n.767G>T) c.637G>T (p.Glu213Ter) c.226G>T (p.Glu76Ter) | |
5 | g.162103904A>C | CA362184994 | GABRG2 | c.609A>C c.767A>C (p.Glu256Ala) n.538A>C c.730A>C c.362A>C (p.Glu121Ala) c.647A>C (p.Glu216Ala) n.709A>C c.524A>C c.38A>C (p.Glu13Ala) c.575A>C (p.Glu192Ala) c.107+35798A>C (n.107+35798A>C) c.581A>C (p.Glu194Ala) n.3178A>C c.85A>C c.560A>C (p.Glu187Ala) c.*249A>C (n.*249A>C) c.768A>C (n.768A>C) c.638A>C (p.Glu213Ala) c.227A>C (p.Glu76Ala) | |
5 | g.162103904A>G | CA362184992 | GABRG2 | c.609A>G c.767A>G (p.Glu256Gly) n.538A>G c.730A>G c.362A>G (p.Glu121Gly) c.647A>G (p.Glu216Gly) n.709A>G c.524A>G c.38A>G (p.Glu13Gly) c.575A>G (p.Glu192Gly) c.107+35798A>G (n.107+35798A>G) c.581A>G (p.Glu194Gly) n.3178A>G c.85A>G c.560A>G (p.Glu187Gly) c.*249A>G (n.*249A>G) c.768A>G (n.768A>G) c.638A>G (p.Glu213Gly) c.227A>G (p.Glu76Gly) | |
5 | g.162103904A>T | CA362184993 | GABRG2 | c.609A>T c.767A>T (p.Glu256Val) n.538A>T c.730A>T c.362A>T (p.Glu121Val) c.647A>T (p.Glu216Val) n.709A>T c.524A>T c.38A>T (p.Glu13Val) c.575A>T (p.Glu192Val) c.107+35798A>T (n.107+35798A>T) c.581A>T (p.Glu194Val) n.3178A>T c.85A>T c.560A>T (p.Glu187Val) c.*249A>T (n.*249A>T) c.768A>T (n.768A>T) c.638A>T (p.Glu213Val) c.227A>T (p.Glu76Val) | |
5 | g.162103905A>C | CA362184995 | GABRG2 | c.610A>C c.768A>C (p.Glu256Asp) n.539A>C c.731A>C c.363A>C (p.Glu121Asp) c.648A>C (p.Glu216Asp) n.710A>C c.525A>C c.39A>C (p.Glu13Asp) c.576A>C (p.Glu192Asp) c.107+35799A>C (n.107+35799A>C) c.582A>C (p.Glu194Asp) n.3179A>C c.86A>C c.561A>C (p.Glu187Asp) c.*250A>C (n.*250A>C) c.769A>C (n.769A>C) c.639A>C (p.Glu213Asp) c.228A>C (p.Glu76Asp) | |
5 | g.162103905A>G | CA447609931 | GABRG2 | c.610A>G c.768A>G (p.Glu256=) n.539A>G c.731A>G c.363A>G (p.Glu121=) c.648A>G (p.Glu216=) n.710A>G c.525A>G c.39A>G (p.Glu13=) c.576A>G (p.Glu192=) c.107+35799A>G (n.107+35799A>G) c.582A>G (p.Glu194=) n.3179A>G c.86A>G c.561A>G (p.Glu187=) c.*250A>G (n.*250A>G) c.769A>G (n.769A>G) c.639A>G (p.Glu213=) c.228A>G (p.Glu76=) | |
5 | g.162103905A>T | CA362184996 | GABRG2 | c.610A>T c.768A>T (p.Glu256Asp) n.539A>T c.731A>T c.363A>T (p.Glu121Asp) c.648A>T (p.Glu216Asp) n.710A>T c.525A>T c.39A>T (p.Glu13Asp) c.576A>T (p.Glu192Asp) c.107+35799A>T (n.107+35799A>T) c.582A>T (p.Glu194Asp) n.3179A>T c.86A>T c.561A>T (p.Glu187Asp) c.*250A>T (n.*250A>T) c.769A>T (n.769A>T) c.639A>T (p.Glu213Asp) c.228A>T (p.Glu76Asp) | |
5 | g.162103906G>A | CA362184997 | GABRG2 | c.611G>A c.769G>A (p.Glu257Lys) n.540G>A c.732G>A c.364G>A (p.Glu122Lys) c.649G>A (p.Glu217Lys) n.711G>A c.526G>A c.40G>A (p.Glu14Lys) c.577G>A (p.Glu193Lys) c.107+35800G>A (n.107+35800G>A) c.583G>A (p.Glu195Lys) n.3180G>A c.87G>A c.562G>A (p.Glu188Lys) c.*251G>A (n.*251G>A) c.770G>A (n.770G>A) c.640G>A (p.Glu214Lys) c.229G>A (p.Glu77Lys) | |
5 | g.162103906G>C | CA362184998 | GABRG2 | c.611G>C c.769G>C (p.Glu257Gln) n.540G>C c.732G>C c.364G>C (p.Glu122Gln) c.649G>C (p.Glu217Gln) n.711G>C c.526G>C c.40G>C (p.Glu14Gln) c.577G>C (p.Glu193Gln) c.107+35800G>C (n.107+35800G>C) c.583G>C (p.Glu195Gln) n.3180G>C c.87G>C c.562G>C (p.Glu188Gln) c.*251G>C (n.*251G>C) c.770G>C (n.770G>C) c.640G>C (p.Glu214Gln) c.229G>C (p.Glu77Gln) | |
5 | g.162103906G>T | CA362184999 | GABRG2 | c.611G>T c.769G>T (p.Glu257Ter) n.540G>T c.732G>T c.364G>T (p.Glu122Ter) c.649G>T (p.Glu217Ter) n.711G>T c.526G>T c.40G>T (p.Glu14Ter) c.577G>T (p.Glu193Ter) c.107+35800G>T (n.107+35800G>T) c.583G>T (p.Glu195Ter) n.3180G>T c.87G>T c.562G>T (p.Glu188Ter) c.*251G>T (n.*251G>T) c.770G>T (n.770G>T) c.640G>T (p.Glu214Ter) c.229G>T (p.Glu77Ter) | gnomAD v4 |
5 | g.162103907A= | CA1596365203 | GABRG2 | c.612A= c.770A= (p.Glu257=) n.541A= c.733A= c.365A= (p.Glu122=) c.650A= (p.Glu217=) n.712A= c.527A= c.41A= (p.Glu14=) c.578A= (p.Glu193=) c.107+35801A= (n.107+35801A=) c.584A= (p.Glu195=) n.3181A= c.88A= c.563A= (p.Glu188=) c.*252A= (n.*252A=) c.771A= (n.771A=) c.641A= (p.Glu214=) c.230A= (p.Glu77=) | |
5 | g.162103907A>C | CA362185000 | GABRG2 | c.612A>C c.770A>C (p.Glu257Ala) n.541A>C c.733A>C c.365A>C (p.Glu122Ala) c.650A>C (p.Glu217Ala) n.712A>C c.527A>C c.41A>C (p.Glu14Ala) c.578A>C (p.Glu193Ala) c.107+35801A>C (n.107+35801A>C) c.584A>C (p.Glu195Ala) n.3181A>C c.88A>C c.563A>C (p.Glu188Ala) c.*252A>C (n.*252A>C) c.771A>C (n.771A>C) c.641A>C (p.Glu214Ala) c.230A>C (p.Glu77Ala) | |
5 | g.162103907A>G | CA362185001 | GABRG2 | c.612A>G c.770A>G (p.Glu257Gly) n.541A>G c.733A>G c.365A>G (p.Glu122Gly) c.650A>G (p.Glu217Gly) n.712A>G c.527A>G c.41A>G (p.Glu14Gly) c.578A>G (p.Glu193Gly) c.107+35801A>G (n.107+35801A>G) c.584A>G (p.Glu195Gly) n.3181A>G c.88A>G c.563A>G (p.Glu188Gly) c.*252A>G (n.*252A>G) c.771A>G (n.771A>G) c.641A>G (p.Glu214Gly) c.230A>G (p.Glu77Gly) | ClinVar dbSNP |
5 | g.162103907A>T | CA362185002 | GABRG2 | c.612A>T c.770A>T (p.Glu257Val) n.541A>T c.733A>T c.365A>T (p.Glu122Val) c.650A>T (p.Glu217Val) n.712A>T c.527A>T c.41A>T (p.Glu14Val) c.578A>T (p.Glu193Val) c.107+35801A>T (n.107+35801A>T) c.584A>T (p.Glu195Val) n.3181A>T c.88A>T c.563A>T (p.Glu188Val) c.*252A>T (n.*252A>T) c.771A>T (n.771A>T) c.641A>T (p.Glu214Val) c.230A>T (p.Glu77Val) | |
5 | g.162103908A>C | CA362185003 | GABRG2 | c.613A>C c.771A>C (p.Glu257Asp) n.542A>C c.734A>C c.366A>C (p.Glu122Asp) c.651A>C (p.Glu217Asp) n.713A>C c.528A>C c.42A>C (p.Glu14Asp) c.579A>C (p.Glu193Asp) c.107+35802A>C (n.107+35802A>C) c.585A>C (p.Glu195Asp) n.3182A>C c.89A>C c.564A>C (p.Glu188Asp) c.*253A>C (n.*253A>C) c.772A>C (n.772A>C) c.642A>C (p.Glu214Asp) c.231A>C (p.Glu77Asp) | |
5 | g.162103908A>G | CA447609932 | GABRG2 | c.613A>G c.771A>G (p.Glu257=) n.542A>G c.734A>G c.366A>G (p.Glu122=) c.651A>G (p.Glu217=) n.713A>G c.528A>G c.42A>G (p.Glu14=) c.579A>G (p.Glu193=) c.107+35802A>G (n.107+35802A>G) c.585A>G (p.Glu195=) n.3182A>G c.89A>G c.564A>G (p.Glu188=) c.*253A>G (n.*253A>G) c.772A>G (n.772A>G) c.642A>G (p.Glu214=) c.231A>G (p.Glu77=) | gnomAD v4 |
5 | g.162103908A>T | CA362185004 | GABRG2 | c.613A>T c.771A>T (p.Glu257Asp) n.542A>T c.734A>T c.366A>T (p.Glu122Asp) c.651A>T (p.Glu217Asp) n.713A>T c.528A>T c.42A>T (p.Glu14Asp) c.579A>T (p.Glu193Asp) c.107+35802A>T (n.107+35802A>T) c.585A>T (p.Glu195Asp) n.3182A>T c.89A>T c.564A>T (p.Glu188Asp) c.*253A>T (n.*253A>T) c.772A>T (n.772A>T) c.642A>T (p.Glu214Asp) c.231A>T (p.Glu77Asp) | |
5 | g.162103911_162103921del | CA2740094171 | GABRG2 | c.616_626del c.774_784del (p.Ile258MetfsTer7) n.545_555del c.737_747del c.369_379del (p.Ile123MetfsTer7) c.654_664del (p.Ile218MetfsTer7) n.716_726del c.531_541del c.45_55del (p.Ile15MetfsTer7) c.582_592del (p.Ile194MetfsTer7) c.107+35805_107+35815del (n.107+35805_107+35815del) c.588_598del (p.Ile196MetfsTer7) n.3185_3195del c.92_102del c.567_577del (p.Ile189MetfsTer7) c.*256_*266del (n.*256_*266del) c.775_785del (n.775_785del) c.645_655del (p.Ile215MetfsTer7) c.234_244del (p.Ile78MetfsTer7) | ClinVar |
5 | g.162103909A= | CA1596365204 | GABRG2 | c.614A= c.772A= (p.Ile258=) n.543A= c.735A= c.367A= (p.Ile123=) c.652A= (p.Ile218=) n.714A= c.529A= c.43A= (p.Ile15=) c.580A= (p.Ile194=) c.107+35803A= (n.107+35803A=) c.586A= (p.Ile196=) n.3183A= c.90A= c.565A= (p.Ile189=) c.*254A= (n.*254A=) c.773A= (n.773A=) c.643A= (p.Ile215=) c.232A= (p.Ile78=) | |
5 | g.162103909A>C | CA362185006 | GABRG2 | c.614A>C c.772A>C (p.Ile258Leu) n.543A>C c.735A>C c.367A>C (p.Ile123Leu) c.652A>C (p.Ile218Leu) n.714A>C c.529A>C c.43A>C (p.Ile15Leu) c.580A>C (p.Ile194Leu) c.107+35803A>C (n.107+35803A>C) c.586A>C (p.Ile196Leu) n.3183A>C c.90A>C c.565A>C (p.Ile189Leu) c.*254A>C (n.*254A>C) c.773A>C (n.773A>C) c.643A>C (p.Ile215Leu) c.232A>C (p.Ile78Leu) | |
5 | g.162103909A>G | CA362185007 | GABRG2 | c.614A>G c.772A>G (p.Ile258Val) n.543A>G c.735A>G c.367A>G (p.Ile123Val) c.652A>G (p.Ile218Val) n.714A>G c.529A>G c.43A>G (p.Ile15Val) c.580A>G (p.Ile194Val) c.107+35803A>G (n.107+35803A>G) c.586A>G (p.Ile196Val) n.3183A>G c.90A>G c.565A>G (p.Ile189Val) c.*254A>G (n.*254A>G) c.773A>G (n.773A>G) c.643A>G (p.Ile215Val) c.232A>G (p.Ile78Val) | dbSNP gnomAD v4 |
5 | g.162103909A>T | CA362185005 | GABRG2 | c.614A>T c.772A>T (p.Ile258Phe) n.543A>T c.735A>T c.367A>T (p.Ile123Phe) c.652A>T (p.Ile218Phe) n.714A>T c.529A>T c.43A>T (p.Ile15Phe) c.580A>T (p.Ile194Phe) c.107+35803A>T (n.107+35803A>T) c.586A>T (p.Ile196Phe) n.3183A>T c.90A>T c.565A>T (p.Ile189Phe) c.*254A>T (n.*254A>T) c.773A>T (n.773A>T) c.643A>T (p.Ile215Phe) c.232A>T (p.Ile78Phe) | ClinVar |
5 | g.162103910T>A | CA362185008 | GABRG2 | c.615T>A c.773T>A (p.Ile258Asn) n.544T>A c.736T>A c.368T>A (p.Ile123Asn) c.653T>A (p.Ile218Asn) n.715T>A c.530T>A c.44T>A (p.Ile15Asn) c.581T>A (p.Ile194Asn) c.107+35804T>A (n.107+35804T>A) c.587T>A (p.Ile196Asn) n.3184T>A c.91T>A c.566T>A (p.Ile189Asn) c.*255T>A (n.*255T>A) c.774T>A (n.774T>A) c.644T>A (p.Ile215Asn) c.233T>A (p.Ile78Asn) | |
5 | g.162103910T>C | CA362185009 | GABRG2 | c.615T>C c.773T>C (p.Ile258Thr) n.544T>C c.736T>C c.368T>C (p.Ile123Thr) c.653T>C (p.Ile218Thr) n.715T>C c.530T>C c.44T>C (p.Ile15Thr) c.581T>C (p.Ile194Thr) c.107+35804T>C (n.107+35804T>C) c.587T>C (p.Ile196Thr) n.3184T>C c.91T>C c.566T>C (p.Ile189Thr) c.*255T>C (n.*255T>C) c.774T>C (n.774T>C) c.644T>C (p.Ile215Thr) c.233T>C (p.Ile78Thr) | |
5 | g.162103910T>G | CA362185010 | GABRG2 | c.615T>G c.773T>G (p.Ile258Ser) n.544T>G c.736T>G c.368T>G (p.Ile123Ser) c.653T>G (p.Ile218Ser) n.715T>G c.530T>G c.44T>G (p.Ile15Ser) c.581T>G (p.Ile194Ser) c.107+35804T>G (n.107+35804T>G) c.587T>G (p.Ile196Ser) n.3184T>G c.91T>G c.566T>G (p.Ile189Ser) c.*255T>G (n.*255T>G) c.774T>G (n.774T>G) c.644T>G (p.Ile215Ser) c.233T>G (p.Ile78Ser) | gnomAD v4 |
5 | g.162103911T>A | CA447609934 | GABRG2 | c.616T>A c.774T>A (p.Ile258=) n.545T>A c.737T>A c.369T>A (p.Ile123=) c.654T>A (p.Ile218=) n.716T>A c.531T>A c.45T>A (p.Ile15=) c.582T>A (p.Ile194=) c.107+35805T>A (n.107+35805T>A) c.588T>A (p.Ile196=) n.3185T>A c.92T>A c.567T>A (p.Ile189=) c.*256T>A (n.*256T>A) c.775T>A (n.775T>A) c.645T>A (p.Ile215=) c.234T>A (p.Ile78=) | |
5 | g.162103911T>C | CA447609935 | GABRG2 | c.616T>C c.774T>C (p.Ile258=) n.545T>C c.737T>C c.369T>C (p.Ile123=) c.654T>C (p.Ile218=) n.716T>C c.531T>C c.45T>C (p.Ile15=) c.582T>C (p.Ile194=) c.107+35805T>C (n.107+35805T>C) c.588T>C (p.Ile196=) n.3185T>C c.92T>C c.567T>C (p.Ile189=) c.*256T>C (n.*256T>C) c.775T>C (n.775T>C) c.645T>C (p.Ile215=) c.234T>C (p.Ile78=) | |
5 | g.162103911T>G | CA362185011 | GABRG2 | c.616T>G c.774T>G (p.Ile258Met) n.545T>G c.737T>G c.369T>G (p.Ile123Met) c.654T>G (p.Ile218Met) n.716T>G c.531T>G c.45T>G (p.Ile15Met) c.582T>G (p.Ile194Met) c.107+35805T>G (n.107+35805T>G) c.588T>G (p.Ile196Met) n.3185T>G c.92T>G c.567T>G (p.Ile189Met) c.*256T>G (n.*256T>G) c.775T>G (n.775T>G) c.645T>G (p.Ile215Met) c.234T>G (p.Ile78Met) | |
5 | g.162103912del | CA2676328414 | GABRG2 | c.617del c.775del (p.Val259PhefsTer27) n.546del c.738del c.370del (p.Val124PhefsTer27) c.655del (p.Val219PhefsTer27) n.717del c.532del c.46del (p.Val16PhefsTer27) c.583del (p.Val195PhefsTer27) c.107+35806del (n.107+35806del) c.589del (p.Val197PhefsTer27) n.3186del c.93del c.568del (p.Val190PhefsTer27) c.*257del (n.*257del) c.776del (n.776del) c.646del (p.Val216PhefsTer27) c.235del (p.Val79PhefsTer27) | gnomAD v4 |
5 | g.162103912G>A | CA3544798 | GABRG2 | c.617G>A c.775G>A (p.Val259Ile) n.546G>A c.738G>A c.370G>A (p.Val124Ile) c.655G>A (p.Val219Ile) n.717G>A c.532G>A c.46G>A (p.Val16Ile) c.583G>A (p.Val195Ile) c.107+35806G>A (n.107+35806G>A) c.589G>A (p.Val197Ile) n.3186G>A c.93G>A c.568G>A (p.Val190Ile) c.*257G>A (n.*257G>A) c.776G>A (n.776G>A) c.646G>A (p.Val216Ile) c.235G>A (p.Val79Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.162103912G>C | CA362185013 | GABRG2 | c.617G>C c.775G>C (p.Val259Leu) n.546G>C c.738G>C c.370G>C (p.Val124Leu) c.655G>C (p.Val219Leu) n.717G>C c.532G>C c.46G>C (p.Val16Leu) c.583G>C (p.Val195Leu) c.107+35806G>C (n.107+35806G>C) c.589G>C (p.Val197Leu) n.3186G>C c.93G>C c.568G>C (p.Val190Leu) c.*257G>C (n.*257G>C) c.776G>C (n.776G>C) c.646G>C (p.Val216Leu) c.235G>C (p.Val79Leu) | |
5 | g.162103912G= | CA1596365205 | GABRG2 | c.617G= c.775G= (p.Val259=) n.546G= c.738G= c.370G= (p.Val124=) c.655G= (p.Val219=) n.717G= c.532G= c.46G= (p.Val16=) c.583G= (p.Val195=) c.107+35806G= (n.107+35806G=) c.589G= (p.Val197=) n.3186G= c.93G= c.568G= (p.Val190=) c.*257G= (n.*257G=) c.776G= (n.776G=) c.646G= (p.Val216=) c.235G= (p.Val79=) | |
5 | g.162103912G>T | CA362185012 | GABRG2 | c.617G>T c.775G>T (p.Val259Phe) n.546G>T c.738G>T c.370G>T (p.Val124Phe) c.655G>T (p.Val219Phe) n.717G>T c.532G>T c.46G>T (p.Val16Phe) c.583G>T (p.Val195Phe) c.107+35806G>T (n.107+35806G>T) c.589G>T (p.Val197Phe) n.3186G>T c.93G>T c.568G>T (p.Val190Phe) c.*257G>T (n.*257G>T) c.776G>T (n.776G>T) c.646G>T (p.Val216Phe) c.235G>T (p.Val79Phe) | |
5 | g.162103913T>A | CA362185014 | GABRG2 | c.618T>A c.776T>A (p.Val259Asp) n.547T>A c.739T>A c.371T>A (p.Val124Asp) c.656T>A (p.Val219Asp) n.718T>A c.533T>A c.47T>A (p.Val16Asp) c.584T>A (p.Val195Asp) c.107+35807T>A (n.107+35807T>A) c.590T>A (p.Val197Asp) n.3187T>A c.94T>A c.569T>A (p.Val190Asp) c.*258T>A (n.*258T>A) c.777T>A (n.777T>A) c.647T>A (p.Val216Asp) c.236T>A (p.Val79Asp) | |
5 | g.162103913T>C | CA362185015 | GABRG2 | c.618T>C c.776T>C (p.Val259Ala) n.547T>C c.739T>C c.371T>C (p.Val124Ala) c.656T>C (p.Val219Ala) n.718T>C c.533T>C c.47T>C (p.Val16Ala) c.584T>C (p.Val195Ala) c.107+35807T>C (n.107+35807T>C) c.590T>C (p.Val197Ala) n.3187T>C c.94T>C c.569T>C (p.Val190Ala) c.*258T>C (n.*258T>C) c.777T>C (n.777T>C) c.647T>C (p.Val216Ala) c.236T>C (p.Val79Ala) | gnomAD v4 COSMIC |
5 | g.162103913T>G | CA362185016 | GABRG2 | c.618T>G c.776T>G (p.Val259Gly) n.547T>G c.739T>G c.371T>G (p.Val124Gly) c.656T>G (p.Val219Gly) n.718T>G c.533T>G c.47T>G (p.Val16Gly) c.584T>G (p.Val195Gly) c.107+35807T>G (n.107+35807T>G) c.590T>G (p.Val197Gly) n.3187T>G c.94T>G c.569T>G (p.Val190Gly) c.*258T>G (n.*258T>G) c.777T>G (n.777T>G) c.647T>G (p.Val216Gly) c.236T>G (p.Val79Gly) | |
5 | g.162103914T>A | CA447609936 | GABRG2 | c.619T>A c.777T>A (p.Val259=) n.548T>A c.740T>A c.372T>A (p.Val124=) c.657T>A (p.Val219=) n.719T>A c.534T>A c.48T>A (p.Val16=) c.585T>A (p.Val195=) c.107+35808T>A (n.107+35808T>A) c.591T>A (p.Val197=) n.3188T>A c.95T>A c.570T>A (p.Val190=) c.*259T>A (n.*259T>A) c.778T>A (n.778T>A) c.648T>A (p.Val216=) c.237T>A (p.Val79=) | |
5 | g.162103914T>C | CA131112328 | GABRG2 | c.619T>C c.777T>C (p.Val259=) n.548T>C c.740T>C c.372T>C (p.Val124=) c.657T>C (p.Val219=) n.719T>C c.534T>C c.48T>C (p.Val16=) c.585T>C (p.Val195=) c.107+35808T>C (n.107+35808T>C) c.591T>C (p.Val197=) n.3188T>C c.95T>C c.570T>C (p.Val190=) c.*259T>C (n.*259T>C) c.778T>C (n.778T>C) c.648T>C (p.Val216=) c.237T>C (p.Val79=) | dbSNP gnomAD v4 |
5 | g.162103914T>G | CA447609937 | GABRG2 | c.619T>G c.777T>G (p.Val259=) n.548T>G c.740T>G c.372T>G (p.Val124=) c.657T>G (p.Val219=) n.719T>G c.534T>G c.48T>G (p.Val16=) c.585T>G (p.Val195=) c.107+35808T>G (n.107+35808T>G) c.591T>G (p.Val197=) n.3188T>G c.95T>G c.570T>G (p.Val190=) c.*259T>G (n.*259T>G) c.778T>G (n.778T>G) c.648T>G (p.Val216=) c.237T>G (p.Val79=) | |
5 | g.162103914T= | CA1596365206 | GABRG2 | c.619T= c.777T= (p.Val259=) n.548T= c.740T= c.372T= (p.Val124=) c.657T= (p.Val219=) n.719T= c.534T= c.48T= (p.Val16=) c.585T= (p.Val195=) c.107+35808T= (n.107+35808T=) c.591T= (p.Val197=) n.3188T= c.95T= c.570T= (p.Val190=) c.*259T= (n.*259T=) c.778T= (n.778T=) c.648T= (p.Val216=) c.237T= (p.Val79=) | |
5 | g.162103915T>A | CA362185017 | GABRG2 | c.620T>A c.778T>A (p.Tyr260Asn) n.549T>A c.741T>A c.373T>A (p.Tyr125Asn) c.658T>A (p.Tyr220Asn) n.720T>A c.535T>A c.49T>A (p.Tyr17Asn) c.586T>A (p.Tyr196Asn) c.107+35809T>A (n.107+35809T>A) c.592T>A (p.Tyr198Asn) n.3189T>A c.96T>A c.571T>A (p.Tyr191Asn) c.*260T>A (n.*260T>A) c.779T>A (n.779T>A) c.649T>A (p.Tyr217Asn) c.238T>A (p.Tyr80Asn) | |
5 | g.162103915T>C | CA362185018 | GABRG2 | c.620T>C c.778T>C (p.Tyr260His) n.549T>C c.741T>C c.373T>C (p.Tyr125His) c.658T>C (p.Tyr220His) n.720T>C c.535T>C c.49T>C (p.Tyr17His) c.586T>C (p.Tyr196His) c.107+35809T>C (n.107+35809T>C) c.592T>C (p.Tyr198His) n.3189T>C c.96T>C c.571T>C (p.Tyr191His) c.*260T>C (n.*260T>C) c.779T>C (n.779T>C) c.649T>C (p.Tyr217His) c.238T>C (p.Tyr80His) | |
5 | g.162103915T>G | CA362185019 | GABRG2 | c.620T>G c.778T>G (p.Tyr260Asp) n.549T>G c.741T>G c.373T>G (p.Tyr125Asp) c.658T>G (p.Tyr220Asp) n.720T>G c.535T>G c.49T>G (p.Tyr17Asp) c.586T>G (p.Tyr196Asp) c.107+35809T>G (n.107+35809T>G) c.592T>G (p.Tyr198Asp) n.3189T>G c.96T>G c.571T>G (p.Tyr191Asp) c.*260T>G (n.*260T>G) c.779T>G (n.779T>G) c.649T>G (p.Tyr217Asp) c.238T>G (p.Tyr80Asp) | |
5 | g.162103916A>C | CA362185022 | GABRG2 | c.621A>C c.779A>C (p.Tyr260Ser) n.550A>C c.742A>C c.374A>C (p.Tyr125Ser) c.659A>C (p.Tyr220Ser) n.721A>C c.536A>C c.50A>C (p.Tyr17Ser) c.587A>C (p.Tyr196Ser) c.107+35810A>C (n.107+35810A>C) c.593A>C (p.Tyr198Ser) n.3190A>C c.97A>C c.572A>C (p.Tyr191Ser) c.*261A>C (n.*261A>C) c.780A>C (n.780A>C) c.650A>C (p.Tyr217Ser) c.239A>C (p.Tyr80Ser) | |
5 | g.162103916A>G | CA362185021 | GABRG2 | c.621A>G c.779A>G (p.Tyr260Cys) n.550A>G c.742A>G c.374A>G (p.Tyr125Cys) c.659A>G (p.Tyr220Cys) n.721A>G c.536A>G c.50A>G (p.Tyr17Cys) c.587A>G (p.Tyr196Cys) c.107+35810A>G (n.107+35810A>G) c.593A>G (p.Tyr198Cys) n.3190A>G c.97A>G c.572A>G (p.Tyr191Cys) c.*261A>G (n.*261A>G) c.780A>G (n.780A>G) c.650A>G (p.Tyr217Cys) c.239A>G (p.Tyr80Cys) | ClinVar dbSNP |
5 | g.162103916A>T | CA362185020 | GABRG2 | c.621A>T c.779A>T (p.Tyr260Phe) n.550A>T c.742A>T c.374A>T (p.Tyr125Phe) c.659A>T (p.Tyr220Phe) n.721A>T c.536A>T c.50A>T (p.Tyr17Phe) c.587A>T (p.Tyr196Phe) c.107+35810A>T (n.107+35810A>T) c.593A>T (p.Tyr198Phe) n.3190A>T c.97A>T c.572A>T (p.Tyr191Phe) c.*261A>T (n.*261A>T) c.780A>T (n.780A>T) c.650A>T (p.Tyr217Phe) c.239A>T (p.Tyr80Phe) | |
5 | g.162103917T>A | CA362185023 | GABRG2 | c.622T>A c.780T>A (p.Tyr260Ter) n.551T>A c.743T>A c.375T>A (p.Tyr125Ter) c.660T>A (p.Tyr220Ter) n.722T>A c.537T>A c.51T>A (p.Tyr17Ter) c.588T>A (p.Tyr196Ter) c.107+35811T>A (n.107+35811T>A) c.594T>A (p.Tyr198Ter) n.3191T>A c.98T>A c.573T>A (p.Tyr191Ter) c.*262T>A (n.*262T>A) c.781T>A (n.781T>A) c.651T>A (p.Tyr217Ter) c.240T>A (p.Tyr80Ter) | |
5 | g.162103917T>C | CA447609941 | GABRG2 | c.622T>C c.780T>C (p.Tyr260=) n.551T>C c.743T>C c.375T>C (p.Tyr125=) c.660T>C (p.Tyr220=) n.722T>C c.537T>C c.51T>C (p.Tyr17=) c.588T>C (p.Tyr196=) c.107+35811T>C (n.107+35811T>C) c.594T>C (p.Tyr198=) n.3191T>C c.98T>C c.573T>C (p.Tyr191=) c.*262T>C (n.*262T>C) c.781T>C (n.781T>C) c.651T>C (p.Tyr217=) c.240T>C (p.Tyr80=) | |
5 | g.162103917T>G | CA362185024 | GABRG2 | c.622T>G c.780T>G (p.Tyr260Ter) n.551T>G c.743T>G c.375T>G (p.Tyr125Ter) c.660T>G (p.Tyr220Ter) n.722T>G c.537T>G c.51T>G (p.Tyr17Ter) c.588T>G (p.Tyr196Ter) c.107+35811T>G (n.107+35811T>G) c.594T>G (p.Tyr198Ter) n.3191T>G c.98T>G c.573T>G (p.Tyr191Ter) c.*262T>G (n.*262T>G) c.781T>G (n.781T>G) c.651T>G (p.Tyr217Ter) c.240T>G (p.Tyr80Ter) | |
5 | g.162103918C>A | CA362185025 | GABRG2 | c.623C>A c.781C>A (p.Gln261Lys) n.552C>A c.744C>A c.376C>A (p.Gln126Lys) c.661C>A (p.Gln221Lys) n.723C>A c.538C>A c.52C>A (p.Gln18Lys) c.589C>A (p.Gln197Lys) c.107+35812C>A (n.107+35812C>A) c.595C>A (p.Gln199Lys) n.3192C>A c.99C>A c.574C>A (p.Gln192Lys) c.*263C>A (n.*263C>A) c.782C>A (n.782C>A) c.652C>A (p.Gln218Lys) c.241C>A (p.Gln81Lys) | |
5 | g.162103918C= | CA1596365207 | GABRG2 | c.623C= c.781C= (p.Gln261=) n.552C= c.744C= c.376C= (p.Gln126=) c.661C= (p.Gln221=) n.723C= c.538C= c.52C= (p.Gln18=) c.589C= (p.Gln197=) c.107+35812C= (n.107+35812C=) c.595C= (p.Gln199=) n.3192C= c.99C= c.574C= (p.Gln192=) c.*263C= (n.*263C=) c.782C= (n.782C=) c.652C= (p.Gln218=) c.241C= (p.Gln81=) | |
5 | g.162103918C>G | CA362185026 | GABRG2 | c.623C>G c.781C>G (p.Gln261Glu) n.552C>G c.744C>G c.376C>G (p.Gln126Glu) c.661C>G (p.Gln221Glu) n.723C>G c.538C>G c.52C>G (p.Gln18Glu) c.589C>G (p.Gln197Glu) c.107+35812C>G (n.107+35812C>G) c.595C>G (p.Gln199Glu) n.3192C>G c.99C>G c.574C>G (p.Gln192Glu) c.*263C>G (n.*263C>G) c.782C>G (n.782C>G) c.652C>G (p.Gln218Glu) c.241C>G (p.Gln81Glu) | |
5 | g.162103918C>T | CA362185027 | GABRG2 | c.623C>T c.781C>T (p.Gln261Ter) n.552C>T c.744C>T c.376C>T (p.Gln126Ter) c.661C>T (p.Gln221Ter) n.723C>T c.538C>T c.52C>T (p.Gln18Ter) c.589C>T (p.Gln197Ter) c.107+35812C>T (n.107+35812C>T) c.595C>T (p.Gln199Ter) n.3192C>T c.99C>T c.574C>T (p.Gln192Ter) c.*263C>T (n.*263C>T) c.782C>T (n.782C>T) c.652C>T (p.Gln218Ter) c.241C>T (p.Gln81Ter) | dbSNP |
5 | g.162103919A>C | CA362185028 | GABRG2 | c.624A>C c.782A>C (p.Gln261Pro) n.553A>C c.745A>C c.377A>C (p.Gln126Pro) c.662A>C (p.Gln221Pro) n.724A>C c.539A>C c.53A>C (p.Gln18Pro) c.590A>C (p.Gln197Pro) c.107+35813A>C (n.107+35813A>C) c.596A>C (p.Gln199Pro) n.3193A>C c.100A>C c.575A>C (p.Gln192Pro) c.*264A>C (n.*264A>C) c.783A>C (n.783A>C) c.653A>C (p.Gln218Pro) c.242A>C (p.Gln81Pro) | |
5 | g.162103919A>G | CA362185029 | GABRG2 | c.624A>G c.782A>G (p.Gln261Arg) n.553A>G c.745A>G c.377A>G (p.Gln126Arg) c.662A>G (p.Gln221Arg) n.724A>G c.539A>G c.53A>G (p.Gln18Arg) c.590A>G (p.Gln197Arg) c.107+35813A>G (n.107+35813A>G) c.596A>G (p.Gln199Arg) n.3193A>G c.100A>G c.575A>G (p.Gln192Arg) c.*264A>G (n.*264A>G) c.783A>G (n.783A>G) c.653A>G (p.Gln218Arg) c.242A>G (p.Gln81Arg) | |
5 | g.162103919A>T | CA362185030 | GABRG2 | c.624A>T c.782A>T (p.Gln261Leu) n.553A>T c.745A>T c.377A>T (p.Gln126Leu) c.662A>T (p.Gln221Leu) n.724A>T c.539A>T c.53A>T (p.Gln18Leu) c.590A>T (p.Gln197Leu) c.107+35813A>T (n.107+35813A>T) c.596A>T (p.Gln199Leu) n.3193A>T c.100A>T c.575A>T (p.Gln192Leu) c.*264A>T (n.*264A>T) c.783A>T (n.783A>T) c.653A>T (p.Gln218Leu) c.242A>T (p.Gln81Leu) | |
5 | g.162103920A>C | CA362185031 | GABRG2 | c.625A>C c.783A>C (p.Gln261His) n.554A>C c.746A>C c.378A>C (p.Gln126His) c.663A>C (p.Gln221His) n.725A>C c.540A>C c.54A>C (p.Gln18His) c.591A>C (p.Gln197His) c.107+35814A>C (n.107+35814A>C) c.597A>C (p.Gln199His) n.3194A>C c.101A>C c.576A>C (p.Gln192His) c.*265A>C (n.*265A>C) c.784A>C (n.784A>C) c.654A>C (p.Gln218His) c.243A>C (p.Gln81His) | |
5 | g.162103920A>G | CA447609942 | GABRG2 | c.625A>G c.783A>G (p.Gln261=) n.554A>G c.746A>G c.378A>G (p.Gln126=) c.663A>G (p.Gln221=) n.725A>G c.540A>G c.54A>G (p.Gln18=) c.591A>G (p.Gln197=) c.107+35814A>G (n.107+35814A>G) c.597A>G (p.Gln199=) n.3194A>G c.101A>G c.576A>G (p.Gln192=) c.*265A>G (n.*265A>G) c.784A>G (n.784A>G) c.654A>G (p.Gln218=) c.243A>G (p.Gln81=) | gnomAD v4 |
5 | g.162103920A>T | CA362185032 | GABRG2 | c.625A>T c.783A>T (p.Gln261His) n.554A>T c.746A>T c.378A>T (p.Gln126His) c.663A>T (p.Gln221His) n.725A>T c.540A>T c.54A>T (p.Gln18His) c.591A>T (p.Gln197His) c.107+35814A>T (n.107+35814A>T) c.597A>T (p.Gln199His) n.3194A>T c.101A>T c.576A>T (p.Gln192His) c.*265A>T (n.*265A>T) c.784A>T (n.784A>T) c.654A>T (p.Gln218His) c.243A>T (p.Gln81His) | |
5 | g.162103921T>A | CA362185033 | GABRG2 | c.626T>A c.784T>A (p.Trp262Arg) n.555T>A c.747T>A c.379T>A (p.Trp127Arg) c.664T>A (p.Trp222Arg) n.726T>A c.541T>A c.55T>A (p.Trp19Arg) c.592T>A (p.Trp198Arg) c.107+35815T>A (n.107+35815T>A) c.598T>A (p.Trp200Arg) n.3195T>A c.102T>A c.577T>A (p.Trp193Arg) c.*266T>A (n.*266T>A) c.785T>A (n.785T>A) c.655T>A (p.Trp219Arg) c.244T>A (p.Trp82Arg) | |
5 | g.162103921T>C | CA362185034 | GABRG2 | c.626T>C c.784T>C (p.Trp262Arg) n.555T>C c.747T>C c.379T>C (p.Trp127Arg) c.664T>C (p.Trp222Arg) n.726T>C c.541T>C c.55T>C (p.Trp19Arg) c.592T>C (p.Trp198Arg) c.107+35815T>C (n.107+35815T>C) c.598T>C (p.Trp200Arg) n.3195T>C c.102T>C c.577T>C (p.Trp193Arg) c.*266T>C (n.*266T>C) c.785T>C (n.785T>C) c.655T>C (p.Trp219Arg) c.244T>C (p.Trp82Arg) | gnomAD v4 |
5 | g.162103921T>G | CA362185035 | GABRG2 | c.626T>G c.784T>G (p.Trp262Gly) n.555T>G c.747T>G c.379T>G (p.Trp127Gly) c.664T>G (p.Trp222Gly) n.726T>G c.541T>G c.55T>G (p.Trp19Gly) c.592T>G (p.Trp198Gly) c.107+35815T>G (n.107+35815T>G) c.598T>G (p.Trp200Gly) n.3195T>G c.102T>G c.577T>G (p.Trp193Gly) c.*266T>G (n.*266T>G) c.785T>G (n.785T>G) c.655T>G (p.Trp219Gly) c.244T>G (p.Trp82Gly) | |
5 | g.162103922G>A | CA362185038 | GABRG2 | c.627G>A c.785G>A (p.Trp262Ter) n.556G>A c.748G>A c.380G>A (p.Trp127Ter) c.665G>A (p.Trp222Ter) n.727G>A c.542G>A c.56G>A (p.Trp19Ter) c.593G>A (p.Trp198Ter) c.107+35816G>A (n.107+35816G>A) c.599G>A (p.Trp200Ter) n.3196G>A c.103G>A c.578G>A (p.Trp193Ter) c.*267G>A (n.*267G>A) c.786G>A (n.786G>A) c.656G>A (p.Trp219Ter) c.245G>A (p.Trp82Ter) | |
5 | g.162103922G>C | CA362185036 | GABRG2 | c.627G>C c.785G>C (p.Trp262Ser) n.556G>C c.748G>C c.380G>C (p.Trp127Ser) c.665G>C (p.Trp222Ser) n.727G>C c.542G>C c.56G>C (p.Trp19Ser) c.593G>C (p.Trp198Ser) c.107+35816G>C (n.107+35816G>C) c.599G>C (p.Trp200Ser) n.3196G>C c.103G>C c.578G>C (p.Trp193Ser) c.*267G>C (n.*267G>C) c.786G>C (n.786G>C) c.656G>C (p.Trp219Ser) c.245G>C (p.Trp82Ser) | |
5 | g.162103922G>T | CA362185037 | GABRG2 | c.627G>T c.785G>T (p.Trp262Leu) n.556G>T c.748G>T c.380G>T (p.Trp127Leu) c.665G>T (p.Trp222Leu) n.727G>T c.542G>T c.56G>T (p.Trp19Leu) c.593G>T (p.Trp198Leu) c.107+35816G>T (n.107+35816G>T) c.599G>T (p.Trp200Leu) n.3196G>T c.103G>T c.578G>T (p.Trp193Leu) c.*267G>T (n.*267G>T) c.786G>T (n.786G>T) c.656G>T (p.Trp219Leu) c.245G>T (p.Trp82Leu) | |
5 | g.162103923G>A | CA362185039 | GABRG2 | c.628G>A c.786G>A (p.Trp262Ter) n.557G>A c.749G>A c.381G>A (p.Trp127Ter) c.666G>A (p.Trp222Ter) n.728G>A c.543G>A c.57G>A (p.Trp19Ter) c.594G>A (p.Trp198Ter) c.107+35817G>A (n.107+35817G>A) c.600G>A (p.Trp200Ter) n.3197G>A c.104G>A c.579G>A (p.Trp193Ter) c.*268G>A (n.*268G>A) c.787G>A (n.787G>A) c.657G>A (p.Trp219Ter) c.246G>A (p.Trp82Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
5 | g.162103923G>C | CA362185040 | GABRG2 | c.628G>C c.786G>C (p.Trp262Cys) n.557G>C c.749G>C c.381G>C (p.Trp127Cys) c.666G>C (p.Trp222Cys) n.728G>C c.543G>C c.57G>C (p.Trp19Cys) c.594G>C (p.Trp198Cys) c.107+35817G>C (n.107+35817G>C) c.600G>C (p.Trp200Cys) n.3197G>C c.104G>C c.579G>C (p.Trp193Cys) c.*268G>C (n.*268G>C) c.787G>C (n.787G>C) c.657G>C (p.Trp219Cys) c.246G>C (p.Trp82Cys) | |
5 | g.162103923G= | CA1596365208 | GABRG2 | c.628G= c.786G= (p.Trp262=) n.557G= c.749G= c.381G= (p.Trp127=) c.666G= (p.Trp222=) n.728G= c.543G= c.57G= (p.Trp19=) c.594G= (p.Trp198=) c.107+35817G= (n.107+35817G=) c.600G= (p.Trp200=) n.3197G= c.104G= c.579G= (p.Trp193=) c.*268G= (n.*268G=) c.787G= (n.787G=) c.657G= (p.Trp219=) c.246G= (p.Trp82=) | |
5 | g.162103923G>T | CA362185041 | GABRG2 | c.628G>T c.786G>T (p.Trp262Cys) n.557G>T c.749G>T c.381G>T (p.Trp127Cys) c.666G>T (p.Trp222Cys) n.728G>T c.543G>T c.57G>T (p.Trp19Cys) c.594G>T (p.Trp198Cys) c.107+35817G>T (n.107+35817G>T) c.600G>T (p.Trp200Cys) n.3197G>T c.104G>T c.579G>T (p.Trp193Cys) c.*268G>T (n.*268G>T) c.787G>T (n.787G>T) c.657G>T (p.Trp219Cys) c.246G>T (p.Trp82Cys) | |
5 | g.162103924A>C | CA362185042 | GABRG2 | c.629A>C c.787A>C (p.Lys263Gln) n.558A>C c.750A>C c.382A>C (p.Lys128Gln) c.667A>C (p.Lys223Gln) n.729A>C c.544A>C c.58A>C (p.Lys20Gln) c.595A>C (p.Lys199Gln) c.107+35818A>C (n.107+35818A>C) c.601A>C (p.Lys201Gln) n.3198A>C c.105A>C c.580A>C (p.Lys194Gln) c.*269A>C (n.*269A>C) c.788A>C (n.788A>C) c.658A>C (p.Lys220Gln) c.247A>C (p.Lys83Gln) | |
5 | g.162103924A>G | CA362185043 | GABRG2 | c.629A>G c.787A>G (p.Lys263Glu) n.558A>G c.750A>G c.382A>G (p.Lys128Glu) c.667A>G (p.Lys223Glu) n.729A>G c.544A>G c.58A>G (p.Lys20Glu) c.595A>G (p.Lys199Glu) c.107+35818A>G (n.107+35818A>G) c.601A>G (p.Lys201Glu) n.3198A>G c.105A>G c.580A>G (p.Lys194Glu) c.*269A>G (n.*269A>G) c.788A>G (n.788A>G) c.658A>G (p.Lys220Glu) c.247A>G (p.Lys83Glu) | |
5 | g.162103924A>T | CA362185044 | GABRG2 | c.629A>T c.787A>T (p.Lys263Ter) n.558A>T c.750A>T c.382A>T (p.Lys128Ter) c.667A>T (p.Lys223Ter) n.729A>T c.544A>T c.58A>T (p.Lys20Ter) c.595A>T (p.Lys199Ter) c.107+35818A>T (n.107+35818A>T) c.601A>T (p.Lys201Ter) n.3198A>T c.105A>T c.580A>T (p.Lys194Ter) c.*269A>T (n.*269A>T) c.788A>T (n.788A>T) c.658A>T (p.Lys220Ter) c.247A>T (p.Lys83Ter) | |
5 | g.162103925A= | CA1596365209 | GABRG2 | c.630A= c.788A= (p.Lys263=) n.559A= c.751A= c.383A= (p.Lys128=) c.668A= (p.Lys223=) n.730A= c.545A= c.59A= (p.Lys20=) c.596A= (p.Lys199=) c.107+35819A= (n.107+35819A=) c.602A= (p.Lys201=) n.3199A= c.106A= c.581A= (p.Lys194=) c.*270A= (n.*270A=) c.789A= (n.789A=) c.659A= (p.Lys220=) c.248A= (p.Lys83=) | |
5 | g.162103925A>C | CA362185045 | GABRG2 | c.630A>C c.788A>C (p.Lys263Thr) n.559A>C c.751A>C c.383A>C (p.Lys128Thr) c.668A>C (p.Lys223Thr) n.730A>C c.545A>C c.59A>C (p.Lys20Thr) c.596A>C (p.Lys199Thr) c.107+35819A>C (n.107+35819A>C) c.602A>C (p.Lys201Thr) n.3199A>C c.106A>C c.581A>C (p.Lys194Thr) c.*270A>C (n.*270A>C) c.789A>C (n.789A>C) c.659A>C (p.Lys220Thr) c.248A>C (p.Lys83Thr) | |
5 | g.162103925A>G | CA362185046 | GABRG2 | c.630A>G c.788A>G (p.Lys263Arg) n.559A>G c.751A>G c.383A>G (p.Lys128Arg) c.668A>G (p.Lys223Arg) n.730A>G c.545A>G c.59A>G (p.Lys20Arg) c.596A>G (p.Lys199Arg) c.107+35819A>G (n.107+35819A>G) c.602A>G (p.Lys201Arg) n.3199A>G c.106A>G c.581A>G (p.Lys194Arg) c.*270A>G (n.*270A>G) c.789A>G (n.789A>G) c.659A>G (p.Lys220Arg) c.248A>G (p.Lys83Arg) | dbSNP gnomAD v4 |
5 | g.162103925A>T | CA362185047 | GABRG2 | c.630A>T c.788A>T (p.Lys263Met) n.559A>T c.751A>T c.383A>T (p.Lys128Met) c.668A>T (p.Lys223Met) n.730A>T c.545A>T c.59A>T (p.Lys20Met) c.596A>T (p.Lys199Met) c.107+35819A>T (n.107+35819A>T) c.602A>T (p.Lys201Met) n.3199A>T c.106A>T c.581A>T (p.Lys194Met) c.*270A>T (n.*270A>T) c.789A>T (n.789A>T) c.659A>T (p.Lys220Met) c.248A>T (p.Lys83Met) | |
5 | g.162103926G>A | CA447609945 | GABRG2 | c.631G>A c.789G>A (p.Lys263=) n.560G>A c.752G>A c.384G>A (p.Lys128=) c.669G>A (p.Lys223=) n.731G>A c.546G>A c.60G>A (p.Lys20=) c.597G>A (p.Lys199=) c.107+35820G>A (n.107+35820G>A) c.603G>A (p.Lys201=) n.3200G>A c.107G>A c.582G>A (p.Lys194=) c.*271G>A (n.*271G>A) c.790G>A (n.790G>A) c.660G>A (p.Lys220=) c.249G>A (p.Lys83=) | ClinVar |
5 | g.162103926G>C | CA362185048 | GABRG2 | c.631G>C c.789G>C (p.Lys263Asn) n.560G>C c.752G>C c.384G>C (p.Lys128Asn) c.669G>C (p.Lys223Asn) n.731G>C c.546G>C c.60G>C (p.Lys20Asn) c.597G>C (p.Lys199Asn) c.107+35820G>C (n.107+35820G>C) c.603G>C (p.Lys201Asn) n.3200G>C c.107G>C c.582G>C (p.Lys194Asn) c.*271G>C (n.*271G>C) c.790G>C (n.790G>C) c.660G>C (p.Lys220Asn) c.249G>C (p.Lys83Asn) | |
5 | g.162103926G>T | CA362185049 | GABRG2 | c.631G>T c.789G>T (p.Lys263Asn) n.560G>T c.752G>T c.384G>T (p.Lys128Asn) c.669G>T (p.Lys223Asn) n.731G>T c.546G>T c.60G>T (p.Lys20Asn) c.597G>T (p.Lys199Asn) c.107+35820G>T (n.107+35820G>T) c.603G>T (p.Lys201Asn) n.3200G>T c.107G>T c.582G>T (p.Lys194Asn) c.*271G>T (n.*271G>T) c.790G>T (n.790G>T) c.660G>T (p.Lys220Asn) c.249G>T (p.Lys83Asn) | |
5 | g.162103927C>A | CA447609949 | GABRG2 | c.632C>A c.790C>A (p.Arg264=) n.561C>A c.753C>A c.385C>A (p.Arg129=) c.670C>A (p.Arg224=) n.732C>A c.547C>A c.61C>A (p.Arg21=) c.598C>A (p.Arg200=) c.107+35821C>A (n.107+35821C>A) c.604C>A (p.Arg202=) n.3201C>A c.108C>A c.583C>A (p.Arg195=) c.*272C>A (n.*272C>A) c.791C>A (n.791C>A) c.661C>A (p.Arg221=) c.250C>A (p.Arg84=) | |
5 | g.162103927C= | CA1596365210 | GABRG2 | c.632C= c.790C= (p.Arg264=) n.561C= c.753C= c.385C= (p.Arg129=) c.670C= (p.Arg224=) n.732C= c.547C= c.61C= (p.Arg21=) c.598C= (p.Arg200=) c.107+35821C= (n.107+35821C=) c.604C= (p.Arg202=) n.3201C= c.108C= c.583C= (p.Arg195=) c.*272C= (n.*272C=) c.791C= (n.791C=) c.661C= (p.Arg221=) c.250C= (p.Arg84=) | |
5 | g.162103927C>G | CA362185050 | GABRG2 | c.632C>G c.790C>G (p.Arg264Gly) n.561C>G c.753C>G c.385C>G (p.Arg129Gly) c.670C>G (p.Arg224Gly) n.732C>G c.547C>G c.61C>G (p.Arg21Gly) c.598C>G (p.Arg200Gly) c.107+35821C>G (n.107+35821C>G) c.604C>G (p.Arg202Gly) n.3201C>G c.108C>G c.583C>G (p.Arg195Gly) c.*272C>G (n.*272C>G) c.791C>G (n.791C>G) c.661C>G (p.Arg221Gly) c.250C>G (p.Arg84Gly) | |
5 | g.162103927C>T | CA131112329 | GABRG2 | c.632C>T c.790C>T (p.Arg264Ter) n.561C>T c.753C>T c.385C>T (p.Arg129Ter) c.670C>T (p.Arg224Ter) n.732C>T c.547C>T c.61C>T (p.Arg21Ter) c.598C>T (p.Arg200Ter) c.107+35821C>T (n.107+35821C>T) c.604C>T (p.Arg202Ter) n.3201C>T c.108C>T c.583C>T (p.Arg195Ter) c.*272C>T (n.*272C>T) c.791C>T (n.791C>T) c.661C>T (p.Arg221Ter) c.250C>T (p.Arg84Ter) | ClinVar dbSNP |
5 | g.162103928G>A | CA3544799 | GABRG2 | c.633G>A c.791G>A (p.Arg264Gln) n.562G>A c.754G>A c.386G>A (p.Arg129Gln) c.671G>A (p.Arg224Gln) n.733G>A c.548G>A c.62G>A (p.Arg21Gln) c.599G>A (p.Arg200Gln) c.107+35822G>A (n.107+35822G>A) c.605G>A (p.Arg202Gln) n.3202G>A c.109G>A c.584G>A (p.Arg195Gln) c.*273G>A (n.*273G>A) c.792G>A (n.792G>A) c.662G>A (p.Arg221Gln) c.251G>A (p.Arg84Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
5 | g.162103928G>C | CA362185052 | GABRG2 | c.633G>C c.791G>C (p.Arg264Pro) n.562G>C c.754G>C c.386G>C (p.Arg129Pro) c.671G>C (p.Arg224Pro) n.733G>C c.548G>C c.62G>C (p.Arg21Pro) c.599G>C (p.Arg200Pro) c.107+35822G>C (n.107+35822G>C) c.605G>C (p.Arg202Pro) n.3202G>C c.109G>C c.584G>C (p.Arg195Pro) c.*273G>C (n.*273G>C) c.792G>C (n.792G>C) c.662G>C (p.Arg221Pro) c.251G>C (p.Arg84Pro) | |
5 | g.162103928G= | CA1596365211 | GABRG2 | c.633G= c.791G= (p.Arg264=) n.562G= c.754G= c.386G= (p.Arg129=) c.671G= (p.Arg224=) n.733G= c.548G= c.62G= (p.Arg21=) c.599G= (p.Arg200=) c.107+35822G= (n.107+35822G=) c.605G= (p.Arg202=) n.3202G= c.109G= c.584G= (p.Arg195=) c.*273G= (n.*273G=) c.792G= (n.792G=) c.662G= (p.Arg221=) c.251G= (p.Arg84=) | |
5 | g.162103928G>T | CA362185051 | GABRG2 | c.633G>T c.791G>T (p.Arg264Leu) n.562G>T c.754G>T c.386G>T (p.Arg129Leu) c.671G>T (p.Arg224Leu) n.733G>T c.548G>T c.62G>T (p.Arg21Leu) c.599G>T (p.Arg200Leu) c.107+35822G>T (n.107+35822G>T) c.605G>T (p.Arg202Leu) n.3202G>T c.109G>T c.584G>T (p.Arg195Leu) c.*273G>T (n.*273G>T) c.792G>T (n.792G>T) c.662G>T (p.Arg221Leu) c.251G>T (p.Arg84Leu) | |
5 | g.162103929A>C | CA447609950 | GABRG2 | c.634A>C c.792A>C (p.Arg264=) n.563A>C c.755A>C c.387A>C (p.Arg129=) c.672A>C (p.Arg224=) n.734A>C c.549A>C c.63A>C (p.Arg21=) c.600A>C (p.Arg200=) c.107+35823A>C (n.107+35823A>C) c.606A>C (p.Arg202=) n.3203A>C c.110A>C c.585A>C (p.Arg195=) c.*274A>C (n.*274A>C) c.793A>C (n.793A>C) c.663A>C (p.Arg221=) c.252A>C (p.Arg84=) | |
5 | g.162103929A>G | CA447609951 | GABRG2 | c.634A>G c.792A>G (p.Arg264=) n.563A>G c.755A>G c.387A>G (p.Arg129=) c.672A>G (p.Arg224=) n.734A>G c.549A>G c.63A>G (p.Arg21=) c.600A>G (p.Arg200=) c.107+35823A>G (n.107+35823A>G) c.606A>G (p.Arg202=) n.3203A>G c.110A>G c.585A>G (p.Arg195=) c.*274A>G (n.*274A>G) c.793A>G (n.793A>G) c.663A>G (p.Arg221=) c.252A>G (p.Arg84=) | |
5 | g.162103929A>T | CA447609952 | GABRG2 | c.634A>T c.792A>T (p.Arg264=) n.563A>T c.755A>T c.387A>T (p.Arg129=) c.672A>T (p.Arg224=) n.734A>T c.549A>T c.63A>T (p.Arg21=) c.600A>T (p.Arg200=) c.107+35823A>T (n.107+35823A>T) c.606A>T (p.Arg202=) n.3203A>T c.110A>T c.585A>T (p.Arg195=) c.*274A>T (n.*274A>T) c.793A>T (n.793A>T) c.663A>T (p.Arg221=) c.252A>T (p.Arg84=) | |
5 | g.162103930A= | CA1596365212 | GABRG2 | c.635A= c.793A= (p.Ser265=) n.564A= c.756A= c.388A= (p.Ser130=) c.673A= (p.Ser225=) n.735A= c.550A= c.64A= (p.Ser22=) c.601A= (p.Ser201=) c.107+35824A= (n.107+35824A=) c.607A= (p.Ser203=) n.3204A= c.111A= c.586A= (p.Ser196=) c.*275A= (n.*275A=) c.794A= (n.794A=) c.664A= (p.Ser222=) c.253A= (p.Ser85=) | |
5 | g.162103930A>C | CA362185055 | GABRG2 | c.635A>C c.793A>C (p.Ser265Arg) n.564A>C c.756A>C c.388A>C (p.Ser130Arg) c.673A>C (p.Ser225Arg) n.735A>C c.550A>C c.64A>C (p.Ser22Arg) c.601A>C (p.Ser201Arg) c.107+35824A>C (n.107+35824A>C) c.607A>C (p.Ser203Arg) n.3204A>C c.111A>C c.586A>C (p.Ser196Arg) c.*275A>C (n.*275A>C) c.794A>C (n.794A>C) c.664A>C (p.Ser222Arg) c.253A>C (p.Ser85Arg) | COSMIC |
5 | g.162103930A>G | CA362185053 | GABRG2 | c.635A>G c.793A>G (p.Ser265Gly) n.564A>G c.756A>G c.388A>G (p.Ser130Gly) c.673A>G (p.Ser225Gly) n.735A>G c.550A>G c.64A>G (p.Ser22Gly) c.601A>G (p.Ser201Gly) c.107+35824A>G (n.107+35824A>G) c.607A>G (p.Ser203Gly) n.3204A>G c.111A>G c.586A>G (p.Ser196Gly) c.*275A>G (n.*275A>G) c.794A>G (n.794A>G) c.664A>G (p.Ser222Gly) c.253A>G (p.Ser85Gly) | dbSNP gnomAD v2 |
5 | g.162103930A>T | CA362185054 | GABRG2 | c.635A>T c.793A>T (p.Ser265Cys) n.564A>T c.756A>T c.388A>T (p.Ser130Cys) c.673A>T (p.Ser225Cys) n.735A>T c.550A>T c.64A>T (p.Ser22Cys) c.601A>T (p.Ser201Cys) c.107+35824A>T (n.107+35824A>T) c.607A>T (p.Ser203Cys) n.3204A>T c.111A>T c.586A>T (p.Ser196Cys) c.*275A>T (n.*275A>T) c.794A>T (n.794A>T) c.664A>T (p.Ser222Cys) c.253A>T (p.Ser85Cys) | |
5 | g.162103930_162103935delinsAGTTCT | CA1596365213 | GABRG2 | c.635_640delinsAGTTCT c.793_798delinsAGTTCT (p.Ser265=) n.564_569delinsAGTTCT c.756_761delinsAGTTCT c.388_393delinsAGTTCT (p.Ser130=) c.673_678delinsAGTTCT (p.Ser225=) n.735_740delinsAGTTCT c.550_555delinsAGTTCT c.64_69delinsAGTTCT (p.Ser22=) c.601_606delinsAGTTCT (p.Ser201=) c.107+35824_107+35829delinsAGTTCT (n.107+35824_107+35829delinsAGTTCT) c.607_612delinsAGTTCT (p.Ser203=) n.3204_3209delinsAGTTCT c.111_116delinsAGTTCT c.586_591delinsAGTTCT (p.Ser196=) c.*275_*280delinsAGTTCT (n.*275_*280delinsAGTTCT) c.794_799delinsAGTTCT (n.794_799delinsAGTTCT) c.664_669delinsAGTTCT (p.Ser222=) c.253_258delinsAGTTCT (p.Ser85=) | |
5 | g.162103931G>A | CA362185056 | GABRG2 | c.636G>A c.794G>A (p.Ser265Asn) n.565G>A c.757G>A c.389G>A (p.Ser130Asn) c.674G>A (p.Ser225Asn) n.736G>A c.551G>A c.65G>A (p.Ser22Asn) c.602G>A (p.Ser201Asn) c.107+35825G>A (n.107+35825G>A) c.608G>A (p.Ser203Asn) n.3205G>A c.112G>A c.587G>A (p.Ser196Asn) c.*276G>A (n.*276G>A) c.795G>A (n.795G>A) c.665G>A (p.Ser222Asn) c.254G>A (p.Ser85Asn) | |
5 | g.162103931G>C | CA362185057 | GABRG2 | c.636G>C c.794G>C (p.Ser265Thr) n.565G>C c.757G>C c.389G>C (p.Ser130Thr) c.674G>C (p.Ser225Thr) n.736G>C c.551G>C c.65G>C (p.Ser22Thr) c.602G>C (p.Ser201Thr) c.107+35825G>C (n.107+35825G>C) c.608G>C (p.Ser203Thr) n.3205G>C c.112G>C c.587G>C (p.Ser196Thr) c.*276G>C (n.*276G>C) c.795G>C (n.795G>C) c.665G>C (p.Ser222Thr) c.254G>C (p.Ser85Thr) | |
5 | g.162103931G>T | CA362185058 | GABRG2 | c.636G>T c.794G>T (p.Ser265Ile) n.565G>T c.757G>T c.389G>T (p.Ser130Ile) c.674G>T (p.Ser225Ile) n.736G>T c.551G>T c.65G>T (p.Ser22Ile) c.602G>T (p.Ser201Ile) c.107+35825G>T (n.107+35825G>T) c.608G>T (p.Ser203Ile) n.3205G>T c.112G>T c.587G>T (p.Ser196Ile) c.*276G>T (n.*276G>T) c.795G>T (n.795G>T) c.665G>T (p.Ser222Ile) c.254G>T (p.Ser85Ile) | |
5 | g.162103934_162103938del | CA658796679 | GABRG2 | c.639_643del c.797_801del (p.Ser266Ter) n.568_572del c.760_764del c.392_396del (p.Ser131Ter) c.677_681del (p.Ser226Ter) n.739_743del c.554_558del c.68_72del (p.Ser23Ter) c.605_609del (p.Ser202Ter) c.107+35828_107+35832del (n.107+35828_107+35832del) c.611_615del (p.Ser204Ter) n.3208_3212del c.115_119del c.590_594del (p.Ser197Ter) c.*279_*283del (n.*279_*283del) c.798_802del (n.798_802del) c.668_672del (p.Ser223Ter) c.257_261del (p.Ser86Ter) | ClinVar dbSNP |
5 | g.162103932T>A | CA362185059 | GABRG2 | c.637T>A c.795T>A (p.Ser265Arg) n.566T>A c.758T>A c.390T>A (p.Ser130Arg) c.675T>A (p.Ser225Arg) n.737T>A c.552T>A c.66T>A (p.Ser22Arg) c.603T>A (p.Ser201Arg) c.107+35826T>A (n.107+35826T>A) c.609T>A (p.Ser203Arg) n.3206T>A c.113T>A c.588T>A (p.Ser196Arg) c.*277T>A (n.*277T>A) c.796T>A (n.796T>A) c.666T>A (p.Ser222Arg) c.255T>A (p.Ser85Arg) | |
5 | g.162103932T>C | CA447609954 | GABRG2 | c.637T>C c.795T>C (p.Ser265=) n.566T>C c.758T>C c.390T>C (p.Ser130=) c.675T>C (p.Ser225=) n.737T>C c.552T>C c.66T>C (p.Ser22=) c.603T>C (p.Ser201=) c.107+35826T>C (n.107+35826T>C) c.609T>C (p.Ser203=) n.3206T>C c.113T>C c.588T>C (p.Ser196=) c.*277T>C (n.*277T>C) c.796T>C (n.796T>C) c.666T>C (p.Ser222=) c.255T>C (p.Ser85=) | |
5 | g.162103932T>G | CA362185060 | GABRG2 | c.637T>G c.795T>G (p.Ser265Arg) n.566T>G c.758T>G c.390T>G (p.Ser130Arg) c.675T>G (p.Ser225Arg) n.737T>G c.552T>G c.66T>G (p.Ser22Arg) c.603T>G (p.Ser201Arg) c.107+35826T>G (n.107+35826T>G) c.609T>G (p.Ser203Arg) n.3206T>G c.113T>G c.588T>G (p.Ser196Arg) c.*277T>G (n.*277T>G) c.796T>G (n.796T>G) c.666T>G (p.Ser222Arg) c.255T>G (p.Ser85Arg) | |
5 | g.162103933T>A | CA362185061 | GABRG2 | c.638T>A c.796T>A (p.Ser266Thr) n.567T>A c.759T>A c.391T>A (p.Ser131Thr) c.676T>A (p.Ser226Thr) n.738T>A c.553T>A c.67T>A (p.Ser23Thr) c.604T>A (p.Ser202Thr) c.107+35827T>A (n.107+35827T>A) c.610T>A (p.Ser204Thr) n.3207T>A c.114T>A c.589T>A (p.Ser197Thr) c.*278T>A (n.*278T>A) c.797T>A (n.797T>A) c.667T>A (p.Ser223Thr) c.256T>A (p.Ser86Thr) | |
5 | g.162103933T>C | CA362185062 | GABRG2 | c.638T>C c.796T>C (p.Ser266Pro) n.567T>C c.759T>C c.391T>C (p.Ser131Pro) c.676T>C (p.Ser226Pro) n.738T>C c.553T>C c.67T>C (p.Ser23Pro) c.604T>C (p.Ser202Pro) c.107+35827T>C (n.107+35827T>C) c.610T>C (p.Ser204Pro) n.3207T>C c.114T>C c.589T>C (p.Ser197Pro) c.*278T>C (n.*278T>C) c.797T>C (n.797T>C) c.667T>C (p.Ser223Pro) c.256T>C (p.Ser86Pro) | |
5 | g.162103933T>G | CA362185063 | GABRG2 | c.638T>G c.796T>G (p.Ser266Ala) n.567T>G c.759T>G c.391T>G (p.Ser131Ala) c.676T>G (p.Ser226Ala) n.738T>G c.553T>G c.67T>G (p.Ser23Ala) c.604T>G (p.Ser202Ala) c.107+35827T>G (n.107+35827T>G) c.610T>G (p.Ser204Ala) n.3207T>G c.114T>G c.589T>G (p.Ser197Ala) c.*278T>G (n.*278T>G) c.797T>G (n.797T>G) c.667T>G (p.Ser223Ala) c.256T>G (p.Ser86Ala) | |
5 | g.162103934C>A | CA362185064 | GABRG2 | c.639C>A c.797C>A (p.Ser266Tyr) n.568C>A c.760C>A c.392C>A (p.Ser131Tyr) c.677C>A (p.Ser226Tyr) n.739C>A c.554C>A c.68C>A (p.Ser23Tyr) c.605C>A (p.Ser202Tyr) c.107+35828C>A (n.107+35828C>A) c.611C>A (p.Ser204Tyr) n.3208C>A c.115C>A c.590C>A (p.Ser197Tyr) c.*279C>A (n.*279C>A) c.798C>A (n.798C>A) c.668C>A (p.Ser223Tyr) c.257C>A (p.Ser86Tyr) | COSMIC |
5 | g.162103934C>G | CA362185065 | GABRG2 | c.639C>G c.797C>G (p.Ser266Cys) n.568C>G c.760C>G c.392C>G (p.Ser131Cys) c.677C>G (p.Ser226Cys) n.739C>G c.554C>G c.68C>G (p.Ser23Cys) c.605C>G (p.Ser202Cys) c.107+35828C>G (n.107+35828C>G) c.611C>G (p.Ser204Cys) n.3208C>G c.115C>G c.590C>G (p.Ser197Cys) c.*279C>G (n.*279C>G) c.798C>G (n.798C>G) c.668C>G (p.Ser223Cys) c.257C>G (p.Ser86Cys) | |
5 | g.162103934C>T | CA362185066 | GABRG2 | c.639C>T c.797C>T (p.Ser266Phe) n.568C>T c.760C>T c.392C>T (p.Ser131Phe) c.677C>T (p.Ser226Phe) n.739C>T c.554C>T c.68C>T (p.Ser23Phe) c.605C>T (p.Ser202Phe) c.107+35828C>T (n.107+35828C>T) c.611C>T (p.Ser204Phe) n.3208C>T c.115C>T c.590C>T (p.Ser197Phe) c.*279C>T (n.*279C>T) c.798C>T (n.798C>T) c.668C>T (p.Ser223Phe) c.257C>T (p.Ser86Phe) | COSMIC |
5 | g.162103935T>A | CA447609955 | GABRG2 | c.640T>A c.798T>A (p.Ser266=) n.569T>A c.761T>A c.393T>A (p.Ser131=) c.678T>A (p.Ser226=) n.740T>A c.555T>A c.69T>A (p.Ser23=) c.606T>A (p.Ser202=) c.107+35829T>A (n.107+35829T>A) c.612T>A (p.Ser204=) n.3209T>A c.116T>A c.591T>A (p.Ser197=) c.*280T>A (n.*280T>A) c.799T>A (n.799T>A) c.669T>A (p.Ser223=) c.258T>A (p.Ser86=) | |
5 | g.162103935T>C | CA447609956 | GABRG2 | c.640T>C c.798T>C (p.Ser266=) n.569T>C c.761T>C c.393T>C (p.Ser131=) c.678T>C (p.Ser226=) n.740T>C c.555T>C c.69T>C (p.Ser23=) c.606T>C (p.Ser202=) c.107+35829T>C (n.107+35829T>C) c.612T>C (p.Ser204=) n.3209T>C c.116T>C c.591T>C (p.Ser197=) c.*280T>C (n.*280T>C) c.799T>C (n.799T>C) c.669T>C (p.Ser223=) c.258T>C (p.Ser86=) | |
5 | g.162103935T>G | CA447609957 | GABRG2 | c.640T>G c.798T>G (p.Ser266=) n.569T>G c.761T>G c.393T>G (p.Ser131=) c.678T>G (p.Ser226=) n.740T>G c.555T>G c.69T>G (p.Ser23=) c.606T>G (p.Ser202=) c.107+35829T>G (n.107+35829T>G) c.612T>G (p.Ser204=) n.3209T>G c.116T>G c.591T>G (p.Ser197=) c.*280T>G (n.*280T>G) c.799T>G (n.799T>G) c.669T>G (p.Ser223=) c.258T>G (p.Ser86=) | |
5 | g.162103936G>A | CA362185069 | GABRG2 | c.641G>A c.799G>A (p.Val267Ile) n.570G>A c.762G>A c.394G>A (p.Val132Ile) c.679G>A (p.Val227Ile) n.741G>A c.556G>A c.70G>A (p.Val24Ile) c.607G>A (p.Val203Ile) c.107+35830G>A (n.107+35830G>A) c.613G>A (p.Val205Ile) n.3210G>A c.117G>A c.592G>A (p.Val198Ile) c.*281G>A (n.*281G>A) c.800G>A (n.800G>A) c.670G>A (p.Val224Ile) c.259G>A (p.Val87Ile) | ClinVar gnomAD v4 |
5 | g.162103936G>C | CA362185068 | GABRG2 | c.641G>C c.799G>C (p.Val267Leu) n.570G>C c.762G>C c.394G>C (p.Val132Leu) c.679G>C (p.Val227Leu) n.741G>C c.556G>C c.70G>C (p.Val24Leu) c.607G>C (p.Val203Leu) c.107+35830G>C (n.107+35830G>C) c.613G>C (p.Val205Leu) n.3210G>C c.117G>C c.592G>C (p.Val198Leu) c.*281G>C (n.*281G>C) c.800G>C (n.800G>C) c.670G>C (p.Val224Leu) c.259G>C (p.Val87Leu) | |
5 | g.162103936G>T | CA362185067 | GABRG2 | c.641G>T c.799G>T (p.Val267Phe) n.570G>T c.762G>T c.394G>T (p.Val132Phe) c.679G>T (p.Val227Phe) n.741G>T c.556G>T c.70G>T (p.Val24Phe) c.607G>T (p.Val203Phe) c.107+35830G>T (n.107+35830G>T) c.613G>T (p.Val205Phe) n.3210G>T c.117G>T c.592G>T (p.Val198Phe) c.*281G>T (n.*281G>T) c.800G>T (n.800G>T) c.670G>T (p.Val224Phe) c.259G>T (p.Val87Phe) | |
5 | g.162103937T>A | CA362185070 | GABRG2 | c.642T>A c.800T>A (p.Val267Asp) n.571T>A c.763T>A c.395T>A (p.Val132Asp) c.680T>A (p.Val227Asp) n.742T>A c.557T>A c.71T>A (p.Val24Asp) c.608T>A (p.Val203Asp) c.107+35831T>A (n.107+35831T>A) c.614T>A (p.Val205Asp) n.3211T>A c.118T>A c.593T>A (p.Val198Asp) c.*282T>A (n.*282T>A) c.801T>A (n.801T>A) c.671T>A (p.Val224Asp) c.260T>A (p.Val87Asp) | dbSNP |
5 | g.162103937T>C | CA362185071 | GABRG2 | c.642T>C c.800T>C (p.Val267Ala) n.571T>C c.763T>C c.395T>C (p.Val132Ala) c.680T>C (p.Val227Ala) n.742T>C c.557T>C c.71T>C (p.Val24Ala) c.608T>C (p.Val203Ala) c.107+35831T>C (n.107+35831T>C) c.614T>C (p.Val205Ala) n.3211T>C c.118T>C c.593T>C (p.Val198Ala) c.*282T>C (n.*282T>C) c.801T>C (n.801T>C) c.671T>C (p.Val224Ala) c.260T>C (p.Val87Ala) | gnomAD v4 |
5 | g.162103937T>G | CA362185072 | GABRG2 | c.642T>G c.800T>G (p.Val267Gly) n.571T>G c.763T>G c.395T>G (p.Val132Gly) c.680T>G (p.Val227Gly) n.742T>G c.557T>G c.71T>G (p.Val24Gly) c.608T>G (p.Val203Gly) c.107+35831T>G (n.107+35831T>G) c.614T>G (p.Val205Gly) n.3211T>G c.118T>G c.593T>G (p.Val198Gly) c.*282T>G (n.*282T>G) c.801T>G (n.801T>G) c.671T>G (p.Val224Gly) c.260T>G (p.Val87Gly) | gnomAD v4 |
5 | g.162103938T>A | CA447609960 | GABRG2 | c.643T>A c.801T>A (p.Val267=) n.572T>A c.764T>A c.396T>A (p.Val132=) c.681T>A (p.Val227=) n.743T>A c.558T>A c.72T>A (p.Val24=) c.609T>A (p.Val203=) c.107+35832T>A (n.107+35832T>A) c.615T>A (p.Val205=) n.3212T>A c.119T>A c.594T>A (p.Val198=) c.*283T>A (n.*283T>A) c.802T>A (n.802T>A) c.672T>A (p.Val224=) c.261T>A (p.Val87=) | |
5 | g.162103938T>C | CA447609959 | GABRG2 | c.643T>C c.801T>C (p.Val267=) n.572T>C c.764T>C c.396T>C (p.Val132=) c.681T>C (p.Val227=) n.743T>C c.558T>C c.72T>C (p.Val24=) c.609T>C (p.Val203=) c.107+35832T>C (n.107+35832T>C) c.615T>C (p.Val205=) n.3212T>C c.119T>C c.594T>C (p.Val198=) c.*283T>C (n.*283T>C) c.802T>C (n.802T>C) c.672T>C (p.Val224=) c.261T>C (p.Val87=) | |
5 | g.162103938T>G | CA447609958 | GABRG2 | c.643T>G c.801T>G (p.Val267=) n.572T>G c.764T>G c.396T>G (p.Val132=) c.681T>G (p.Val227=) n.743T>G c.558T>G c.72T>G (p.Val24=) c.609T>G (p.Val203=) c.107+35832T>G (n.107+35832T>G) c.615T>G (p.Val205=) n.3212T>G c.119T>G c.594T>G (p.Val198=) c.*283T>G (n.*283T>G) c.802T>G (n.802T>G) c.672T>G (p.Val224=) c.261T>G (p.Val87=) | |
5 | g.162103939G>A | CA362185073 | GABRG2 | c.644G>A c.802G>A (p.Glu268Lys) n.573G>A c.765G>A c.397G>A (p.Glu133Lys) c.682G>A (p.Glu228Lys) n.744G>A c.559G>A c.73G>A (p.Glu25Lys) c.610G>A (p.Glu204Lys) c.107+35833G>A (n.107+35833G>A) c.616G>A (p.Glu206Lys) n.3213G>A c.120G>A c.595G>A (p.Glu199Lys) c.*284G>A (n.*284G>A) c.803G>A (n.803G>A) c.673G>A (p.Glu225Lys) c.262G>A (p.Glu88Lys) | |
5 | g.162103939G>C | CA362185074 | GABRG2 | c.644G>C c.802G>C (p.Glu268Gln) n.573G>C c.765G>C c.397G>C (p.Glu133Gln) c.682G>C (p.Glu228Gln) n.744G>C c.559G>C c.73G>C (p.Glu25Gln) c.610G>C (p.Glu204Gln) c.107+35833G>C (n.107+35833G>C) c.616G>C (p.Glu206Gln) n.3213G>C c.120G>C c.595G>C (p.Glu199Gln) c.*284G>C (n.*284G>C) c.803G>C (n.803G>C) c.673G>C (p.Glu225Gln) c.262G>C (p.Glu88Gln) | |
5 | g.162103939G= | CA1596365214 | GABRG2 | c.644G= c.802G= (p.Glu268=) n.573G= c.765G= c.397G= (p.Glu133=) c.682G= (p.Glu228=) n.744G= c.559G= c.73G= (p.Glu25=) c.610G= (p.Glu204=) c.107+35833G= (n.107+35833G=) c.616G= (p.Glu206=) n.3213G= c.120G= c.595G= (p.Glu199=) c.*284G= (n.*284G=) c.803G= (n.803G=) c.673G= (p.Glu225=) c.262G= (p.Glu88=) | |
5 | g.162103939G>T | CA362185075 | GABRG2 | c.644G>T c.802G>T (p.Glu268Ter) n.573G>T c.765G>T c.397G>T (p.Glu133Ter) c.682G>T (p.Glu228Ter) n.744G>T c.559G>T c.73G>T (p.Glu25Ter) c.610G>T (p.Glu204Ter) c.107+35833G>T (n.107+35833G>T) c.616G>T (p.Glu206Ter) n.3213G>T c.120G>T c.595G>T (p.Glu199Ter) c.*284G>T (n.*284G>T) c.803G>T (n.803G>T) c.673G>T (p.Glu225Ter) c.262G>T (p.Glu88Ter) | dbSNP COSMIC |
5 | g.162103940A= | CA1596365215 | GABRG2 | c.645A= c.803A= (p.Glu268=) n.574A= c.766A= c.398A= (p.Glu133=) c.683A= (p.Glu228=) n.745A= c.560A= c.74A= (p.Glu25=) c.611A= (p.Glu204=) c.107+35834A= (n.107+35834A=) c.617A= (p.Glu206=) n.3214A= c.121A= c.596A= (p.Glu199=) c.*285A= (n.*285A=) c.804A= (n.804A=) c.674A= (p.Glu225=) c.263A= (p.Glu88=) | |
5 | g.162103940A>C | CA131112330 | GABRG2 | c.645A>C c.803A>C (p.Glu268Ala) n.574A>C c.766A>C c.398A>C (p.Glu133Ala) c.683A>C (p.Glu228Ala) n.745A>C c.560A>C c.74A>C (p.Glu25Ala) c.611A>C (p.Glu204Ala) c.107+35834A>C (n.107+35834A>C) c.617A>C (p.Glu206Ala) n.3214A>C c.121A>C c.596A>C (p.Glu199Ala) c.*285A>C (n.*285A>C) c.804A>C (n.804A>C) c.674A>C (p.Glu225Ala) c.263A>C (p.Glu88Ala) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
5 | g.162103940A>G | CA362185076 | GABRG2 | c.645A>G c.803A>G (p.Glu268Gly) n.574A>G c.766A>G c.398A>G (p.Glu133Gly) c.683A>G (p.Glu228Gly) n.745A>G c.560A>G c.74A>G (p.Glu25Gly) c.611A>G (p.Glu204Gly) c.107+35834A>G (n.107+35834A>G) c.617A>G (p.Glu206Gly) n.3214A>G c.121A>G c.596A>G (p.Glu199Gly) c.*285A>G (n.*285A>G) c.804A>G (n.804A>G) c.674A>G (p.Glu225Gly) c.263A>G (p.Glu88Gly) | gnomAD v4 |
5 | g.162103940A>T | CA362185077 | GABRG2 | c.645A>T c.803A>T (p.Glu268Val) n.574A>T c.766A>T c.398A>T (p.Glu133Val) c.683A>T (p.Glu228Val) n.745A>T c.560A>T c.74A>T (p.Glu25Val) c.611A>T (p.Glu204Val) c.107+35834A>T (n.107+35834A>T) c.617A>T (p.Glu206Val) n.3214A>T c.121A>T c.596A>T (p.Glu199Val) c.*285A>T (n.*285A>T) c.804A>T (n.804A>T) c.674A>T (p.Glu225Val) c.263A>T (p.Glu88Val) | |
5 | g.162103941A>C | CA362185078 | GABRG2 | c.646A>C c.804A>C (p.Glu268Asp) n.575A>C c.767A>C c.399A>C (p.Glu133Asp) c.684A>C (p.Glu228Asp) n.746A>C c.561A>C c.75A>C (p.Glu25Asp) c.612A>C (p.Glu204Asp) c.107+35835A>C (n.107+35835A>C) c.618A>C (p.Glu206Asp) n.3215A>C c.122A>C c.597A>C (p.Glu199Asp) c.*286A>C (n.*286A>C) c.805A>C (n.805A>C) c.675A>C (p.Glu225Asp) c.264A>C (p.Glu88Asp) | |
5 | g.162103941A>G | CA447609961 | GABRG2 | c.646A>G c.804A>G (p.Glu268=) n.575A>G c.767A>G c.399A>G (p.Glu133=) c.684A>G (p.Glu228=) n.746A>G c.561A>G c.75A>G (p.Glu25=) c.612A>G (p.Glu204=) c.107+35835A>G (n.107+35835A>G) c.618A>G (p.Glu206=) n.3215A>G c.122A>G c.597A>G (p.Glu199=) c.*286A>G (n.*286A>G) c.805A>G (n.805A>G) c.675A>G (p.Glu225=) c.264A>G (p.Glu88=) | |
5 | g.162103941A>T | CA362185079 | GABRG2 | c.646A>T c.804A>T (p.Glu268Asp) n.575A>T c.767A>T c.399A>T (p.Glu133Asp) c.684A>T (p.Glu228Asp) n.746A>T c.561A>T c.75A>T (p.Glu25Asp) c.612A>T (p.Glu204Asp) c.107+35835A>T (n.107+35835A>T) c.618A>T (p.Glu206Asp) n.3215A>T c.122A>T c.597A>T (p.Glu199Asp) c.*286A>T (n.*286A>T) c.805A>T (n.805A>T) c.675A>T (p.Glu225Asp) c.264A>T (p.Glu88Asp) | |
5 | g.162103942G>A | CA362185080 | GABRG2 | c.647G>A c.805G>A (p.Val269Met) n.576G>A c.768G>A c.400G>A (p.Val134Met) c.685G>A (p.Val229Met) n.747G>A c.562G>A c.76G>A (p.Val26Met) c.613G>A (p.Val205Met) c.107+35836G>A (n.107+35836G>A) c.619G>A (p.Val207Met) n.3216G>A c.123G>A c.598G>A (p.Val200Met) c.*287G>A (n.*287G>A) c.806G>A (n.806G>A) c.676G>A (p.Val226Met) c.265G>A (p.Val89Met) | COSMIC |
5 | g.162103942G>C | CA362185081 | GABRG2 | c.647G>C c.805G>C (p.Val269Leu) n.576G>C c.768G>C c.400G>C (p.Val134Leu) c.685G>C (p.Val229Leu) n.747G>C c.562G>C c.76G>C (p.Val26Leu) c.613G>C (p.Val205Leu) c.107+35836G>C (n.107+35836G>C) c.619G>C (p.Val207Leu) n.3216G>C c.123G>C c.598G>C (p.Val200Leu) c.*287G>C (n.*287G>C) c.806G>C (n.806G>C) c.676G>C (p.Val226Leu) c.265G>C (p.Val89Leu) | |
5 | g.162103942G>T | CA362185082 | GABRG2 | c.647G>T c.805G>T (p.Val269Leu) n.576G>T c.768G>T c.400G>T (p.Val134Leu) c.685G>T (p.Val229Leu) n.747G>T c.562G>T c.76G>T (p.Val26Leu) c.613G>T (p.Val205Leu) c.107+35836G>T (n.107+35836G>T) c.619G>T (p.Val207Leu) n.3216G>T c.123G>T c.598G>T (p.Val200Leu) c.*287G>T (n.*287G>T) c.806G>T (n.806G>T) c.676G>T (p.Val226Leu) c.265G>T (p.Val89Leu) | |
5 | g.162103943T>A | CA362185085 | GABRG2 | c.648T>A c.806T>A (p.Val269Glu) n.577T>A c.769T>A c.401T>A (p.Val134Glu) c.686T>A (p.Val229Glu) n.748T>A c.563T>A c.77T>A (p.Val26Glu) c.614T>A (p.Val205Glu) c.107+35837T>A (n.107+35837T>A) c.620T>A (p.Val207Glu) n.3217T>A c.124T>A c.599T>A (p.Val200Glu) c.*288T>A (n.*288T>A) c.807T>A (n.807T>A) c.677T>A (p.Val226Glu) c.266T>A (p.Val89Glu) | |
5 | g.162103943T>C | CA362185084 | GABRG2 | c.648T>C c.806T>C (p.Val269Ala) n.577T>C c.769T>C c.401T>C (p.Val134Ala) c.686T>C (p.Val229Ala) n.748T>C c.563T>C c.77T>C (p.Val26Ala) c.614T>C (p.Val205Ala) c.107+35837T>C (n.107+35837T>C) c.620T>C (p.Val207Ala) n.3217T>C c.124T>C c.599T>C (p.Val200Ala) c.*288T>C (n.*288T>C) c.807T>C (n.807T>C) c.677T>C (p.Val226Ala) c.266T>C (p.Val89Ala) | |
5 | g.162103943T>G | CA362185083 | GABRG2 | c.648T>G c.806T>G (p.Val269Gly) n.577T>G c.769T>G c.401T>G (p.Val134Gly) c.686T>G (p.Val229Gly) n.748T>G c.563T>G c.77T>G (p.Val26Gly) c.614T>G (p.Val205Gly) c.107+35837T>G (n.107+35837T>G) c.620T>G (p.Val207Gly) n.3217T>G c.124T>G c.599T>G (p.Val200Gly) c.*288T>G (n.*288T>G) c.807T>G (n.807T>G) c.677T>G (p.Val226Gly) c.266T>G (p.Val89Gly) | |
5 | g.162103944G>A | CA447609965 | GABRG2 | c.649G>A c.807G>A (p.Val269=) n.578G>A c.770G>A c.402G>A (p.Val134=) c.687G>A (p.Val229=) n.749G>A c.564G>A c.78G>A (p.Val26=) c.615G>A (p.Val205=) c.107+35838G>A (n.107+35838G>A) c.621G>A (p.Val207=) n.3218G>A c.125G>A c.600G>A (p.Val200=) c.*289G>A (n.*289G>A) c.808G>A (n.808G>A) c.678G>A (p.Val226=) c.267G>A (p.Val89=) | |
5 | g.162103944G>C | CA447609964 | GABRG2 | c.649G>C c.807G>C (p.Val269=) n.578G>C c.770G>C c.402G>C (p.Val134=) c.687G>C (p.Val229=) n.749G>C c.564G>C c.78G>C (p.Val26=) c.615G>C (p.Val205=) c.107+35838G>C (n.107+35838G>C) c.621G>C (p.Val207=) n.3218G>C c.125G>C c.600G>C (p.Val200=) c.*289G>C (n.*289G>C) c.808G>C (n.808G>C) c.678G>C (p.Val226=) c.267G>C (p.Val89=) | |
5 | g.162103944G>T | CA447609963 | GABRG2 | c.649G>T c.807G>T (p.Val269=) n.578G>T c.770G>T c.402G>T (p.Val134=) c.687G>T (p.Val229=) n.749G>T c.564G>T c.78G>T (p.Val26=) c.615G>T (p.Val205=) c.107+35838G>T (n.107+35838G>T) c.621G>T (p.Val207=) n.3218G>T c.125G>T c.600G>T (p.Val200=) c.*289G>T (n.*289G>T) c.808G>T (n.808G>T) c.678G>T (p.Val226=) c.267G>T (p.Val89=) | gnomAD v4 |
5 | g.162103945G>A | CA362185086 | GABRG2 | c.650G>A c.808G>A (p.Gly270Ser) n.579G>A c.771G>A c.403G>A (p.Gly135Ser) c.688G>A (p.Gly230Ser) n.750G>A c.565G>A c.79G>A (p.Gly27Ser) c.616G>A (p.Gly206Ser) c.107+35839G>A (n.107+35839G>A) c.622G>A (p.Gly208Ser) n.3219G>A c.126G>A c.601G>A (p.Gly201Ser) c.*290G>A (n.*290G>A) c.809G>A (n.809G>A) c.679G>A (p.Gly227Ser) c.268G>A (p.Gly90Ser) | COSMIC |
5 | g.162103945G>C | CA362185087 | GABRG2 | c.650G>C c.808G>C (p.Gly270Arg) n.579G>C c.771G>C c.403G>C (p.Gly135Arg) c.688G>C (p.Gly230Arg) n.750G>C c.565G>C c.79G>C (p.Gly27Arg) c.616G>C (p.Gly206Arg) c.107+35839G>C (n.107+35839G>C) c.622G>C (p.Gly208Arg) n.3219G>C c.126G>C c.601G>C (p.Gly201Arg) c.*290G>C (n.*290G>C) c.809G>C (n.809G>C) c.679G>C (p.Gly227Arg) c.268G>C (p.Gly90Arg) | |
5 | g.162103945G>T | CA362185088 | GABRG2 | c.650G>T c.808G>T (p.Gly270Cys) n.579G>T c.771G>T c.403G>T (p.Gly135Cys) c.688G>T (p.Gly230Cys) n.750G>T c.565G>T c.79G>T (p.Gly27Cys) c.616G>T (p.Gly206Cys) c.107+35839G>T (n.107+35839G>T) c.622G>T (p.Gly208Cys) n.3219G>T c.126G>T c.601G>T (p.Gly201Cys) c.*290G>T (n.*290G>T) c.809G>T (n.809G>T) c.679G>T (p.Gly227Cys) c.268G>T (p.Gly90Cys) | |
5 | g.162103946G>A | CA362185089 | GABRG2 | c.651G>A c.809G>A (p.Gly270Asp) n.580G>A c.772G>A c.404G>A (p.Gly135Asp) c.689G>A (p.Gly230Asp) n.751G>A c.566G>A c.80G>A (p.Gly27Asp) c.617G>A (p.Gly206Asp) c.107+35840G>A (n.107+35840G>A) c.623G>A (p.Gly208Asp) n.3220G>A c.127G>A c.602G>A (p.Gly201Asp) c.*291G>A (n.*291G>A) c.810G>A (n.810G>A) c.680G>A (p.Gly227Asp) c.269G>A (p.Gly90Asp) | |
5 | g.162103946G>C | CA362185090 | GABRG2 | c.651G>C c.809G>C (p.Gly270Ala) n.580G>C c.772G>C c.404G>C (p.Gly135Ala) c.689G>C (p.Gly230Ala) n.751G>C c.566G>C c.80G>C (p.Gly27Ala) c.617G>C (p.Gly206Ala) c.107+35840G>C (n.107+35840G>C) c.623G>C (p.Gly208Ala) n.3220G>C c.127G>C c.602G>C (p.Gly201Ala) c.*291G>C (n.*291G>C) c.810G>C (n.810G>C) c.680G>C (p.Gly227Ala) c.269G>C (p.Gly90Ala) | |
5 | g.162103946G>T | CA362185091 | GABRG2 | c.651G>T c.809G>T (p.Gly270Val) n.580G>T c.772G>T c.404G>T (p.Gly135Val) c.689G>T (p.Gly230Val) n.751G>T c.566G>T c.80G>T (p.Gly27Val) c.617G>T (p.Gly206Val) c.107+35840G>T (n.107+35840G>T) c.623G>T (p.Gly208Val) n.3220G>T c.127G>T c.602G>T (p.Gly201Val) c.*291G>T (n.*291G>T) c.810G>T (n.810G>T) c.680G>T (p.Gly227Val) c.269G>T (p.Gly90Val) | |
5 | g.162103947C>A | CA3544800 | GABRG2 | c.652C>A c.810C>A (p.Gly270=) n.581C>A c.773C>A c.405C>A (p.Gly135=) c.690C>A (p.Gly230=) n.752C>A c.567C>A c.81C>A (p.Gly27=) c.618C>A (p.Gly206=) c.107+35841C>A (n.107+35841C>A) c.624C>A (p.Gly208=) n.3221C>A c.128C>A c.603C>A (p.Gly201=) c.*292C>A (n.*292C>A) c.811C>A (n.811C>A) c.681C>A (p.Gly227=) c.270C>A (p.Gly90=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.162103947C= | CA1596365216 | GABRG2 | c.652C= c.810C= (p.Gly270=) n.581C= c.773C= c.405C= (p.Gly135=) c.690C= (p.Gly230=) n.752C= c.567C= c.81C= (p.Gly27=) c.618C= (p.Gly206=) c.107+35841C= (n.107+35841C=) c.624C= (p.Gly208=) n.3221C= c.128C= c.603C= (p.Gly201=) c.*292C= (n.*292C=) c.811C= (n.811C=) c.681C= (p.Gly227=) c.270C= (p.Gly90=) | |
5 | g.162103947C>G | CA447609967 | GABRG2 | c.652C>G c.810C>G (p.Gly270=) n.581C>G c.773C>G c.405C>G (p.Gly135=) c.690C>G (p.Gly230=) n.752C>G c.567C>G c.81C>G (p.Gly27=) c.618C>G (p.Gly206=) c.107+35841C>G (n.107+35841C>G) c.624C>G (p.Gly208=) n.3221C>G c.128C>G c.603C>G (p.Gly201=) c.*292C>G (n.*292C>G) c.811C>G (n.811C>G) c.681C>G (p.Gly227=) c.270C>G (p.Gly90=) | |
5 | g.162103947C>T | CA3544801 | GABRG2 | c.652C>T c.810C>T (p.Gly270=) n.581C>T c.773C>T c.405C>T (p.Gly135=) c.690C>T (p.Gly230=) n.752C>T c.567C>T c.81C>T (p.Gly27=) c.618C>T (p.Gly206=) c.107+35841C>T (n.107+35841C>T) c.624C>T (p.Gly208=) n.3221C>T c.128C>T c.603C>T (p.Gly201=) c.*292C>T (n.*292C>T) c.811C>T (n.811C>T) c.681C>T (p.Gly227=) c.270C>T (p.Gly90=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
5 | g.162103948G>A | CA3544802 | GABRG2 | c.653G>A c.811G>A (p.Asp271Asn) n.582G>A c.774G>A c.406G>A (p.Asp136Asn) c.691G>A (p.Asp231Asn) n.753G>A c.568G>A c.82G>A (p.Asp28Asn) c.619G>A (p.Asp207Asn) c.107+35842G>A (n.107+35842G>A) c.625G>A (p.Asp209Asn) n.3222G>A c.129G>A c.604G>A (p.Asp202Asn) c.*293G>A (n.*293G>A) c.812G>A (n.812G>A) c.682G>A (p.Asp228Asn) c.271G>A (p.Asp91Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
5 | g.162103948G>C | CA362185092 | GABRG2 | c.653G>C c.811G>C (p.Asp271His) n.582G>C c.774G>C c.406G>C (p.Asp136His) c.691G>C (p.Asp231His) n.753G>C c.568G>C c.82G>C (p.Asp28His) c.619G>C (p.Asp207His) c.107+35842G>C (n.107+35842G>C) c.625G>C (p.Asp209His) n.3222G>C c.129G>C c.604G>C (p.Asp202His) c.*293G>C (n.*293G>C) c.812G>C (n.812G>C) c.682G>C (p.Asp228His) c.271G>C (p.Asp91His) | |
5 | g.162103948G= | CA1596365217 | GABRG2 | c.653G= c.811G= (p.Asp271=) n.582G= c.774G= c.406G= (p.Asp136=) c.691G= (p.Asp231=) n.753G= c.568G= c.82G= (p.Asp28=) c.619G= (p.Asp207=) c.107+35842G= (n.107+35842G=) c.625G= (p.Asp209=) n.3222G= c.129G= c.604G= (p.Asp202=) c.*293G= (n.*293G=) c.812G= (n.812G=) c.682G= (p.Asp228=) c.271G= (p.Asp91=) | |
5 | g.162103948G>T | CA362185093 | GABRG2 | c.653G>T c.811G>T (p.Asp271Tyr) n.582G>T c.774G>T c.406G>T (p.Asp136Tyr) c.691G>T (p.Asp231Tyr) n.753G>T c.568G>T c.82G>T (p.Asp28Tyr) c.619G>T (p.Asp207Tyr) c.107+35842G>T (n.107+35842G>T) c.625G>T (p.Asp209Tyr) n.3222G>T c.129G>T c.604G>T (p.Asp202Tyr) c.*293G>T (n.*293G>T) c.812G>T (n.812G>T) c.682G>T (p.Asp228Tyr) c.271G>T (p.Asp91Tyr) | ClinVar gnomAD v4 |
5 | g.162103949A>C | CA362185094 | GABRG2 | c.654A>C c.812A>C (p.Asp271Ala) n.583A>C c.775A>C c.407A>C (p.Asp136Ala) c.692A>C (p.Asp231Ala) n.754A>C c.569A>C c.83A>C (p.Asp28Ala) c.620A>C (p.Asp207Ala) c.107+35843A>C (n.107+35843A>C) c.626A>C (p.Asp209Ala) n.3223A>C c.130A>C c.605A>C (p.Asp202Ala) c.*294A>C (n.*294A>C) c.813A>C (n.813A>C) c.683A>C (p.Asp228Ala) c.272A>C (p.Asp91Ala) | |
5 | g.162103949A>G | CA362185095 | GABRG2 | c.654A>G c.812A>G (p.Asp271Gly) n.583A>G c.775A>G c.407A>G (p.Asp136Gly) c.692A>G (p.Asp231Gly) n.754A>G c.569A>G c.83A>G (p.Asp28Gly) c.620A>G (p.Asp207Gly) c.107+35843A>G (n.107+35843A>G) c.626A>G (p.Asp209Gly) n.3223A>G c.130A>G c.605A>G (p.Asp202Gly) c.*294A>G (n.*294A>G) c.813A>G (n.813A>G) c.683A>G (p.Asp228Gly) c.272A>G (p.Asp91Gly) | |
5 | g.162103949A>T | CA362185096 | GABRG2 | c.654A>T c.812A>T (p.Asp271Val) n.583A>T c.775A>T c.407A>T (p.Asp136Val) c.692A>T (p.Asp231Val) n.754A>T c.569A>T c.83A>T (p.Asp28Val) c.620A>T (p.Asp207Val) c.107+35843A>T (n.107+35843A>T) c.626A>T (p.Asp209Val) n.3223A>T c.130A>T c.605A>T (p.Asp202Val) c.*294A>T (n.*294A>T) c.813A>T (n.813A>T) c.683A>T (p.Asp228Val) c.272A>T (p.Asp91Val) | |
5 | g.162103950C>A | CA362185098 | GABRG2 | c.655C>A c.813C>A (p.Asp271Glu) n.584C>A c.776C>A c.408C>A (p.Asp136Glu) c.693C>A (p.Asp231Glu) n.755C>A c.570C>A c.84C>A (p.Asp28Glu) c.621C>A (p.Asp207Glu) c.107+35844C>A (n.107+35844C>A) c.627C>A (p.Asp209Glu) n.3224C>A c.131C>A c.606C>A (p.Asp202Glu) c.*295C>A (n.*295C>A) c.814C>A (n.814C>A) c.684C>A (p.Asp228Glu) c.273C>A (p.Asp91Glu) | |
5 | g.162103950C>G | CA362185097 | GABRG2 | c.655C>G c.813C>G (p.Asp271Glu) n.584C>G c.776C>G c.408C>G (p.Asp136Glu) c.693C>G (p.Asp231Glu) n.755C>G c.570C>G c.84C>G (p.Asp28Glu) c.621C>G (p.Asp207Glu) c.107+35844C>G (n.107+35844C>G) c.627C>G (p.Asp209Glu) n.3224C>G c.131C>G c.606C>G (p.Asp202Glu) c.*295C>G (n.*295C>G) c.814C>G (n.814C>G) c.684C>G (p.Asp228Glu) c.273C>G (p.Asp91Glu) | |
5 | g.162103950C>T | CA447609970 | GABRG2 | c.655C>T c.813C>T (p.Asp271=) n.584C>T c.776C>T c.408C>T (p.Asp136=) c.693C>T (p.Asp231=) n.755C>T c.570C>T c.84C>T (p.Asp28=) c.621C>T (p.Asp207=) c.107+35844C>T (n.107+35844C>T) c.627C>T (p.Asp209=) n.3224C>T c.131C>T c.606C>T (p.Asp202=) c.*295C>T (n.*295C>T) c.814C>T (n.814C>T) c.684C>T (p.Asp228=) c.273C>T (p.Asp91=) | |
5 | g.162103951A>C | CA362185099 | GABRG2 | c.656A>C c.814A>C (p.Thr272Pro) n.585A>C c.777A>C c.409A>C (p.Thr137Pro) c.694A>C (p.Thr232Pro) n.756A>C c.571A>C c.85A>C (p.Thr29Pro) c.622A>C (p.Thr208Pro) c.107+35845A>C (n.107+35845A>C) c.628A>C (p.Thr210Pro) n.3225A>C c.132A>C c.607A>C (p.Thr203Pro) c.*296A>C (n.*296A>C) c.815A>C (n.815A>C) c.685A>C (p.Thr229Pro) c.274A>C (p.Thr92Pro) | |
5 | g.162103951A>G | CA362185100 | GABRG2 | c.656A>G c.814A>G (p.Thr272Ala) n.585A>G c.777A>G c.409A>G (p.Thr137Ala) c.694A>G (p.Thr232Ala) n.756A>G c.571A>G c.85A>G (p.Thr29Ala) c.622A>G (p.Thr208Ala) c.107+35845A>G (n.107+35845A>G) c.628A>G (p.Thr210Ala) n.3225A>G c.132A>G c.607A>G (p.Thr203Ala) c.*296A>G (n.*296A>G) c.815A>G (n.815A>G) c.685A>G (p.Thr229Ala) c.274A>G (p.Thr92Ala) | gnomAD v4 |
5 | g.162103951A>T | CA362185101 | GABRG2 | c.656A>T c.814A>T (p.Thr272Ser) n.585A>T c.777A>T c.409A>T (p.Thr137Ser) c.694A>T (p.Thr232Ser) n.756A>T c.571A>T c.85A>T (p.Thr29Ser) c.622A>T (p.Thr208Ser) c.107+35845A>T (n.107+35845A>T) c.628A>T (p.Thr210Ser) n.3225A>T c.132A>T c.607A>T (p.Thr203Ser) c.*296A>T (n.*296A>T) c.815A>T (n.815A>T) c.685A>T (p.Thr229Ser) c.274A>T (p.Thr92Ser) | |
5 | g.162103952C>A | CA362185102 | GABRG2 | c.657C>A c.815C>A (p.Thr272Lys) n.586C>A c.778C>A c.410C>A (p.Thr137Lys) c.695C>A (p.Thr232Lys) n.757C>A c.572C>A c.86C>A (p.Thr29Lys) c.623C>A (p.Thr208Lys) c.107+35846C>A (n.107+35846C>A) c.629C>A (p.Thr210Lys) n.3226C>A c.133C>A c.608C>A (p.Thr203Lys) c.*297C>A (n.*297C>A) c.816C>A (n.816C>A) c.686C>A (p.Thr229Lys) c.275C>A (p.Thr92Lys) | |
5 | g.162103952C>G | CA362185103 | GABRG2 | c.657C>G c.815C>G (p.Thr272Arg) n.586C>G c.778C>G c.410C>G (p.Thr137Arg) c.695C>G (p.Thr232Arg) n.757C>G c.572C>G c.86C>G (p.Thr29Arg) c.623C>G (p.Thr208Arg) c.107+35846C>G (n.107+35846C>G) c.629C>G (p.Thr210Arg) n.3226C>G c.133C>G c.608C>G (p.Thr203Arg) c.*297C>G (n.*297C>G) c.816C>G (n.816C>G) c.686C>G (p.Thr229Arg) c.275C>G (p.Thr92Arg) | |
5 | g.162103952C>T | CA362185104 | GABRG2 | c.657C>T c.815C>T (p.Thr272Ile) n.586C>T c.778C>T c.410C>T (p.Thr137Ile) c.695C>T (p.Thr232Ile) n.757C>T c.572C>T c.86C>T (p.Thr29Ile) c.623C>T (p.Thr208Ile) c.107+35846C>T (n.107+35846C>T) c.629C>T (p.Thr210Ile) n.3226C>T c.133C>T c.608C>T (p.Thr203Ile) c.*297C>T (n.*297C>T) c.816C>T (n.816C>T) c.686C>T (p.Thr229Ile) c.275C>T (p.Thr92Ile) | |
5 | g.162103952_162103953delinsCA | CA1596365218 | GABRG2 | c.657_658delinsCA c.815_816delinsCA (p.Thr272=) n.586_587delinsCA c.778_779delinsCA c.410_411delinsCA (p.Thr137=) c.695_696delinsCA (p.Thr232=) n.757_758delinsCA c.572_573delinsCA c.86_87delinsCA (p.Thr29=) c.623_624delinsCA (p.Thr208=) c.107+35846_107+35847delinsCA (n.107+35846_107+35847delinsCA) c.629_630delinsCA (p.Thr210=) n.3226_3227delinsCA c.133_134delinsCA c.608_609delinsCA (p.Thr203=) c.*297_*298delinsCA (n.*297_*298delinsCA) c.816_817delinsCA (n.816_817delinsCA) c.686_687delinsCA (p.Thr229=) c.275_276delinsCA (p.Thr92=) | |
5 | g.162103953A= | CA1596365219 | GABRG2 | c.658A= c.816A= (p.Thr272=) n.587A= c.779A= c.411A= (p.Thr137=) c.696A= (p.Thr232=) n.758A= c.573A= c.87A= (p.Thr29=) c.624A= (p.Thr208=) c.107+35847A= (n.107+35847A=) c.630A= (p.Thr210=) n.3227A= c.134A= c.609A= (p.Thr203=) c.*298A= (n.*298A=) c.817A= (n.817A=) c.687A= (p.Thr229=) c.276A= (p.Thr92=) | |
5 | g.162103953A>C | CA447609972 | GABRG2 | c.658A>C c.816A>C (p.Thr272=) n.587A>C c.779A>C c.411A>C (p.Thr137=) c.696A>C (p.Thr232=) n.758A>C c.573A>C c.87A>C (p.Thr29=) c.624A>C (p.Thr208=) c.107+35847A>C (n.107+35847A>C) c.630A>C (p.Thr210=) n.3227A>C c.134A>C c.609A>C (p.Thr203=) c.*298A>C (n.*298A>C) c.817A>C (n.817A>C) c.687A>C (p.Thr229=) c.276A>C (p.Thr92=) | |
5 | g.162103953A>G | CA447609973 | GABRG2 | c.658A>G c.816A>G (p.Thr272=) n.587A>G c.779A>G c.411A>G (p.Thr137=) c.696A>G (p.Thr232=) n.758A>G c.573A>G c.87A>G (p.Thr29=) c.624A>G (p.Thr208=) c.107+35847A>G (n.107+35847A>G) c.630A>G (p.Thr210=) n.3227A>G c.134A>G c.609A>G (p.Thr203=) c.*298A>G (n.*298A>G) c.817A>G (n.817A>G) c.687A>G (p.Thr229=) c.276A>G (p.Thr92=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.162103953A>T | CA447609974 | GABRG2 | c.658A>T c.816A>T (p.Thr272=) n.587A>T c.779A>T c.411A>T (p.Thr137=) c.696A>T (p.Thr232=) n.758A>T c.573A>T c.87A>T (p.Thr29=) c.624A>T (p.Thr208=) c.107+35847A>T (n.107+35847A>T) c.630A>T (p.Thr210=) n.3227A>T c.134A>T c.609A>T (p.Thr203=) c.*298A>T (n.*298A>T) c.817A>T (n.817A>T) c.687A>T (p.Thr229=) c.276A>T (p.Thr92=) | |
5 | g.162103954del | CA1139659244 | GABRG2 | c.659del c.817del (p.Arg273AspfsTer13) n.588del c.780del c.412del (p.Arg138AspfsTer13) c.697del (p.Arg233AspfsTer13) n.759del c.574del c.88del (p.Arg30AspfsTer13) c.625del (p.Arg209AspfsTer13) c.107+35848del (n.107+35848del) c.631del (p.Arg211AspfsTer13) n.3228del c.135del c.610del (p.Arg204AspfsTer13) c.*299del (n.*299del) c.818del (n.818del) c.688del (p.Arg230AspfsTer13) c.277del (p.Arg93AspfsTer13) | ClinVar dbSNP |
5 | g.162103954A>C | CA447609975 | GABRG2 | c.659A>C c.817A>C (p.Arg273=) n.588A>C c.780A>C c.412A>C (p.Arg138=) c.697A>C (p.Arg233=) n.759A>C c.574A>C c.88A>C (p.Arg30=) c.625A>C (p.Arg209=) c.107+35848A>C (n.107+35848A>C) c.631A>C (p.Arg211=) n.3228A>C c.135A>C c.610A>C (p.Arg204=) c.*299A>C (n.*299A>C) c.818A>C (n.818A>C) c.688A>C (p.Arg230=) c.277A>C (p.Arg93=) | |
5 | g.162103954A>G | CA362185105 | GABRG2 | c.659A>G c.817A>G (p.Arg273Gly) n.588A>G c.780A>G c.412A>G (p.Arg138Gly) c.697A>G (p.Arg233Gly) n.759A>G c.574A>G c.88A>G (p.Arg30Gly) c.625A>G (p.Arg209Gly) c.107+35848A>G (n.107+35848A>G) c.631A>G (p.Arg211Gly) n.3228A>G c.135A>G c.610A>G (p.Arg204Gly) c.*299A>G (n.*299A>G) c.818A>G (n.818A>G) c.688A>G (p.Arg230Gly) c.277A>G (p.Arg93Gly) | |
5 | g.162103954A>T | CA362185106 | GABRG2 | c.659A>T c.817A>T (p.Arg273Ter) n.588A>T c.780A>T c.412A>T (p.Arg138Ter) c.697A>T (p.Arg233Ter) n.759A>T c.574A>T c.88A>T (p.Arg30Ter) c.625A>T (p.Arg209Ter) c.107+35848A>T (n.107+35848A>T) c.631A>T (p.Arg211Ter) n.3228A>T c.135A>T c.610A>T (p.Arg204Ter) c.*299A>T (n.*299A>T) c.818A>T (n.818A>T) c.688A>T (p.Arg230Ter) c.277A>T (p.Arg93Ter) | |
5 | g.162103955G>A | CA362185107 | GABRG2 | c.660G>A c.818G>A (p.Arg273Lys) n.589G>A c.781G>A c.413G>A (p.Arg138Lys) c.698G>A (p.Arg233Lys) n.760G>A c.575G>A c.89G>A (p.Arg30Lys) c.626G>A (p.Arg209Lys) c.107+35849G>A (n.107+35849G>A) c.632G>A (p.Arg211Lys) n.3229G>A c.136G>A c.611G>A (p.Arg204Lys) c.*300G>A (n.*300G>A) c.819G>A (n.819G>A) c.689G>A (p.Arg230Lys) c.278G>A (p.Arg93Lys) | dbSNP |
5 | g.162103955G>C | CA362185108 | GABRG2 | c.660G>C c.818G>C (p.Arg273Thr) n.589G>C c.781G>C c.413G>C (p.Arg138Thr) c.698G>C (p.Arg233Thr) n.760G>C c.575G>C c.89G>C (p.Arg30Thr) c.626G>C (p.Arg209Thr) c.107+35849G>C (n.107+35849G>C) c.632G>C (p.Arg211Thr) n.3229G>C c.136G>C c.611G>C (p.Arg204Thr) c.*300G>C (n.*300G>C) c.819G>C (n.819G>C) c.689G>C (p.Arg230Thr) c.278G>C (p.Arg93Thr) | |
5 | g.162103955G= | CA1596365220 | GABRG2 | c.660G= c.818G= (p.Arg273=) n.589G= c.781G= c.413G= (p.Arg138=) c.698G= (p.Arg233=) n.760G= c.575G= c.89G= (p.Arg30=) c.626G= (p.Arg209=) c.107+35849G= (n.107+35849G=) c.632G= (p.Arg211=) n.3229G= c.136G= c.611G= (p.Arg204=) c.*300G= (n.*300G=) c.819G= (n.819G=) c.689G= (p.Arg230=) c.278G= (p.Arg93=) | |
5 | g.162103955G>T | CA362185109 | GABRG2 | c.660G>T c.818G>T (p.Arg273Ile) n.589G>T c.781G>T c.413G>T (p.Arg138Ile) c.698G>T (p.Arg233Ile) n.760G>T c.575G>T c.89G>T (p.Arg30Ile) c.626G>T (p.Arg209Ile) c.107+35849G>T (n.107+35849G>T) c.632G>T (p.Arg211Ile) n.3229G>T c.136G>T c.611G>T (p.Arg204Ile) c.*300G>T (n.*300G>T) c.819G>T (n.819G>T) c.689G>T (p.Arg230Ile) c.278G>T (p.Arg93Ile) | COSMIC |
5 | g.162103956A>C | CA362185110 | GABRG2 | c.661A>C c.819A>C (p.Arg273Ser) n.590A>C c.782A>C c.414A>C (p.Arg138Ser) c.699A>C (p.Arg233Ser) n.761A>C c.576A>C c.90A>C (p.Arg30Ser) c.627A>C (p.Arg209Ser) c.107+35850A>C (n.107+35850A>C) c.633A>C (p.Arg211Ser) n.3230A>C c.137A>C c.612A>C (p.Arg204Ser) c.*301A>C (n.*301A>C) c.820A>C (n.820A>C) c.690A>C (p.Arg230Ser) c.279A>C (p.Arg93Ser) | |
5 | g.162103956A>G | CA447609977 | GABRG2 | c.661A>G c.819A>G (p.Arg273=) n.590A>G c.782A>G c.414A>G (p.Arg138=) c.699A>G (p.Arg233=) n.761A>G c.576A>G c.90A>G (p.Arg30=) c.627A>G (p.Arg209=) c.107+35850A>G (n.107+35850A>G) c.633A>G (p.Arg211=) n.3230A>G c.137A>G c.612A>G (p.Arg204=) c.*301A>G (n.*301A>G) c.820A>G (n.820A>G) c.690A>G (p.Arg230=) c.279A>G (p.Arg93=) | |
5 | g.162103956A>T | CA362185111 | GABRG2 | c.661A>T c.819A>T (p.Arg273Ser) n.590A>T c.782A>T c.414A>T (p.Arg138Ser) c.699A>T (p.Arg233Ser) n.761A>T c.576A>T c.90A>T (p.Arg30Ser) c.627A>T (p.Arg209Ser) c.107+35850A>T (n.107+35850A>T) c.633A>T (p.Arg211Ser) n.3230A>T c.137A>T c.612A>T (p.Arg204Ser) c.*301A>T (n.*301A>T) c.820A>T (n.820A>T) c.690A>T (p.Arg230Ser) c.279A>T (p.Arg93Ser) | gnomAD v4 COSMIC |
5 | g.162103957T>A | CA362185112 | GABRG2 | c.662T>A c.820T>A (p.Ser274Thr) n.591T>A c.783T>A c.415T>A (p.Ser139Thr) c.700T>A (p.Ser234Thr) n.762T>A c.577T>A c.91T>A (p.Ser31Thr) c.628T>A (p.Ser210Thr) c.107+35851T>A (n.107+35851T>A) c.634T>A (p.Ser212Thr) n.3231T>A c.138T>A c.613T>A (p.Ser205Thr) c.*302T>A (n.*302T>A) c.821T>A (n.821T>A) c.691T>A (p.Ser231Thr) c.280T>A (p.Ser94Thr) | |
5 | g.162103957T>C | CA362185114 | GABRG2 | c.662T>C c.820T>C (p.Ser274Pro) n.591T>C c.783T>C c.415T>C (p.Ser139Pro) c.700T>C (p.Ser234Pro) n.762T>C c.577T>C c.91T>C (p.Ser31Pro) c.628T>C (p.Ser210Pro) c.107+35851T>C (n.107+35851T>C) c.634T>C (p.Ser212Pro) n.3231T>C c.138T>C c.613T>C (p.Ser205Pro) c.*302T>C (n.*302T>C) c.821T>C (n.821T>C) c.691T>C (p.Ser231Pro) c.280T>C (p.Ser94Pro) | |
5 | g.162103957T>G | CA362185113 | GABRG2 | c.662T>G c.820T>G (p.Ser274Ala) n.591T>G c.783T>G c.415T>G (p.Ser139Ala) c.700T>G (p.Ser234Ala) n.762T>G c.577T>G c.91T>G (p.Ser31Ala) c.628T>G (p.Ser210Ala) c.107+35851T>G (n.107+35851T>G) c.634T>G (p.Ser212Ala) n.3231T>G c.138T>G c.613T>G (p.Ser205Ala) c.*302T>G (n.*302T>G) c.821T>G (n.821T>G) c.691T>G (p.Ser231Ala) c.280T>G (p.Ser94Ala) | |
5 | g.162103958C>A | CA362185115 | GABRG2 | c.663C>A c.821C>A (p.Ser274Tyr) n.592C>A c.784C>A c.416C>A (p.Ser139Tyr) c.701C>A (p.Ser234Tyr) n.763C>A c.578C>A c.92C>A (p.Ser31Tyr) c.629C>A (p.Ser210Tyr) c.107+35852C>A (n.107+35852C>A) c.635C>A (p.Ser212Tyr) n.3232C>A c.139C>A c.614C>A (p.Ser205Tyr) c.*303C>A (n.*303C>A) c.822C>A (n.822C>A) c.692C>A (p.Ser231Tyr) c.281C>A (p.Ser94Tyr) | COSMIC |
5 | g.162103958C>G | CA362185117 | GABRG2 | c.663C>G c.821C>G (p.Ser274Cys) n.592C>G c.784C>G c.416C>G (p.Ser139Cys) c.701C>G (p.Ser234Cys) n.763C>G c.578C>G c.92C>G (p.Ser31Cys) c.629C>G (p.Ser210Cys) c.107+35852C>G (n.107+35852C>G) c.635C>G (p.Ser212Cys) n.3232C>G c.139C>G c.614C>G (p.Ser205Cys) c.*303C>G (n.*303C>G) c.822C>G (n.822C>G) c.692C>G (p.Ser231Cys) c.281C>G (p.Ser94Cys) | |
5 | g.162103958C>T | CA362185116 | GABRG2 | c.663C>T c.821C>T (p.Ser274Phe) n.592C>T c.784C>T c.416C>T (p.Ser139Phe) c.701C>T (p.Ser234Phe) n.763C>T c.578C>T c.92C>T (p.Ser31Phe) c.629C>T (p.Ser210Phe) c.107+35852C>T (n.107+35852C>T) c.635C>T (p.Ser212Phe) n.3232C>T c.139C>T c.614C>T (p.Ser205Phe) c.*303C>T (n.*303C>T) c.822C>T (n.822C>T) c.692C>T (p.Ser231Phe) c.281C>T (p.Ser94Phe) | COSMIC |
5 | g.162103959C>A | CA447609980 | GABRG2 | c.664C>A c.822C>A (p.Ser274=) n.593C>A c.785C>A c.417C>A (p.Ser139=) c.702C>A (p.Ser234=) n.764C>A c.579C>A c.93C>A (p.Ser31=) c.630C>A (p.Ser210=) c.107+35853C>A (n.107+35853C>A) c.636C>A (p.Ser212=) n.3233C>A c.140C>A c.615C>A (p.Ser205=) c.*304C>A (n.*304C>A) c.823C>A (n.823C>A) c.693C>A (p.Ser231=) c.282C>A (p.Ser94=) | |
5 | g.162103959C= | CA1596365221 | GABRG2 | c.664C= c.822C= (p.Ser274=) n.593C= c.785C= c.417C= (p.Ser139=) c.702C= (p.Ser234=) n.764C= c.579C= c.93C= (p.Ser31=) c.630C= (p.Ser210=) c.107+35853C= (n.107+35853C=) c.636C= (p.Ser212=) n.3233C= c.140C= c.615C= (p.Ser205=) c.*304C= (n.*304C=) c.823C= (n.823C=) c.693C= (p.Ser231=) c.282C= (p.Ser94=) | |
5 | g.162103959C>G | CA447609981 | GABRG2 | c.664C>G c.822C>G (p.Ser274=) n.593C>G c.785C>G c.417C>G (p.Ser139=) c.702C>G (p.Ser234=) n.764C>G c.579C>G c.93C>G (p.Ser31=) c.630C>G (p.Ser210=) c.107+35853C>G (n.107+35853C>G) c.636C>G (p.Ser212=) n.3233C>G c.140C>G c.615C>G (p.Ser205=) c.*304C>G (n.*304C>G) c.823C>G (n.823C>G) c.693C>G (p.Ser231=) c.282C>G (p.Ser94=) | |
5 | g.162103959C>T | CA3544803 | GABRG2 | c.664C>T c.822C>T (p.Ser274=) n.593C>T c.785C>T c.417C>T (p.Ser139=) c.702C>T (p.Ser234=) n.764C>T c.579C>T c.93C>T (p.Ser31=) c.630C>T (p.Ser210=) c.107+35853C>T (n.107+35853C>T) c.636C>T (p.Ser212=) n.3233C>T c.140C>T c.615C>T (p.Ser205=) c.*304C>T (n.*304C>T) c.823C>T (n.823C>T) c.693C>T (p.Ser231=) c.282C>T (p.Ser94=) | dbSNP ExAC |
5 | g.162103960T>A | CA362185118 | GABRG2 | c.665T>A c.823T>A (p.Trp275Arg) n.594T>A c.786T>A c.418T>A (p.Trp140Arg) c.703T>A (p.Trp235Arg) n.765T>A c.580T>A c.94T>A (p.Trp32Arg) c.631T>A (p.Trp211Arg) c.107+35854T>A (n.107+35854T>A) c.637T>A (p.Trp213Arg) n.3234T>A c.141T>A c.616T>A (p.Trp206Arg) c.*305T>A (n.*305T>A) c.824T>A (n.824T>A) c.694T>A (p.Trp232Arg) c.283T>A (p.Trp95Arg) | |
5 | g.162103960T>C | CA362185119 | GABRG2 | c.665T>C c.823T>C (p.Trp275Arg) n.594T>C c.786T>C c.418T>C (p.Trp140Arg) c.703T>C (p.Trp235Arg) n.765T>C c.580T>C c.94T>C (p.Trp32Arg) c.631T>C (p.Trp211Arg) c.107+35854T>C (n.107+35854T>C) c.637T>C (p.Trp213Arg) n.3234T>C c.141T>C c.616T>C (p.Trp206Arg) c.*305T>C (n.*305T>C) c.824T>C (n.824T>C) c.694T>C (p.Trp232Arg) c.283T>C (p.Trp95Arg) | |
5 | g.162103960T>G | CA362185120 | GABRG2 | c.665T>G c.823T>G (p.Trp275Gly) n.594T>G c.786T>G c.418T>G (p.Trp140Gly) c.703T>G (p.Trp235Gly) n.765T>G c.580T>G c.94T>G (p.Trp32Gly) c.631T>G (p.Trp211Gly) c.107+35854T>G (n.107+35854T>G) c.637T>G (p.Trp213Gly) n.3234T>G c.141T>G c.616T>G (p.Trp206Gly) c.*305T>G (n.*305T>G) c.824T>G (n.824T>G) c.694T>G (p.Trp232Gly) c.283T>G (p.Trp95Gly) | |
5 | g.162103961G>A | CA362185121 | GABRG2 | c.666G>A c.824G>A (p.Trp275Ter) n.595G>A c.787G>A c.419G>A (p.Trp140Ter) c.704G>A (p.Trp235Ter) n.766G>A c.581G>A c.95G>A (p.Trp32Ter) c.632G>A (p.Trp211Ter) c.107+35855G>A (n.107+35855G>A) c.638G>A (p.Trp213Ter) n.3235G>A c.142G>A c.617G>A (p.Trp206Ter) c.*306G>A (n.*306G>A) c.825G>A (n.825G>A) c.695G>A (p.Trp232Ter) c.284G>A (p.Trp95Ter) | ClinVar dbSNP |
5 | g.162103961G>C | CA362185122 | GABRG2 | c.666G>C c.824G>C (p.Trp275Ser) n.595G>C c.787G>C c.419G>C (p.Trp140Ser) c.704G>C (p.Trp235Ser) n.766G>C c.581G>C c.95G>C (p.Trp32Ser) c.632G>C (p.Trp211Ser) c.107+35855G>C (n.107+35855G>C) c.638G>C (p.Trp213Ser) n.3235G>C c.142G>C c.617G>C (p.Trp206Ser) c.*306G>C (n.*306G>C) c.825G>C (n.825G>C) c.695G>C (p.Trp232Ser) c.284G>C (p.Trp95Ser) | |
5 | g.162103961G= | CA1596365222 | GABRG2 | c.666G= c.824G= (p.Trp275=) n.595G= c.787G= c.419G= (p.Trp140=) c.704G= (p.Trp235=) n.766G= c.581G= c.95G= (p.Trp32=) c.632G= (p.Trp211=) c.107+35855G= (n.107+35855G=) c.638G= (p.Trp213=) n.3235G= c.142G= c.617G= (p.Trp206=) c.*306G= (n.*306G=) c.825G= (n.825G=) c.695G= (p.Trp232=) c.284G= (p.Trp95=) | |
5 | g.162103961G>T | CA362185123 | GABRG2 | c.666G>T c.824G>T (p.Trp275Leu) n.595G>T c.787G>T c.419G>T (p.Trp140Leu) c.704G>T (p.Trp235Leu) n.766G>T c.581G>T c.95G>T (p.Trp32Leu) c.632G>T (p.Trp211Leu) c.107+35855G>T (n.107+35855G>T) c.638G>T (p.Trp213Leu) n.3235G>T c.142G>T c.617G>T (p.Trp206Leu) c.*306G>T (n.*306G>T) c.825G>T (n.825G>T) c.695G>T (p.Trp232Leu) c.284G>T (p.Trp95Leu) | |
5 | g.162103962G>A | CA131112331 | GABRG2 | c.667G>A c.825G>A (p.Trp275Ter) n.596G>A c.788G>A c.420G>A (p.Trp140Ter) c.705G>A (p.Trp235Ter) n.767G>A c.582G>A c.96G>A (p.Trp32Ter) c.633G>A (p.Trp211Ter) c.107+35856G>A (n.107+35856G>A) c.639G>A (p.Trp213Ter) n.3236G>A c.143G>A c.618G>A (p.Trp206Ter) c.*307G>A (n.*307G>A) c.826G>A (n.826G>A) c.696G>A (p.Trp232Ter) c.285G>A (p.Trp95Ter) | dbSNP |
5 | g.162103962G>C | CA362185124 | GABRG2 | c.667G>C c.825G>C (p.Trp275Cys) n.596G>C c.788G>C c.420G>C (p.Trp140Cys) c.705G>C (p.Trp235Cys) n.767G>C c.582G>C c.96G>C (p.Trp32Cys) c.633G>C (p.Trp211Cys) c.107+35856G>C (n.107+35856G>C) c.639G>C (p.Trp213Cys) n.3236G>C c.143G>C c.618G>C (p.Trp206Cys) c.*307G>C (n.*307G>C) c.826G>C (n.826G>C) c.696G>C (p.Trp232Cys) c.285G>C (p.Trp95Cys) | |
5 | g.162103962G= | CA1596365223 | GABRG2 | c.667G= c.825G= (p.Trp275=) n.596G= c.788G= c.420G= (p.Trp140=) c.705G= (p.Trp235=) n.767G= c.582G= c.96G= (p.Trp32=) c.633G= (p.Trp211=) c.107+35856G= (n.107+35856G=) c.639G= (p.Trp213=) n.3236G= c.143G= c.618G= (p.Trp206=) c.*307G= (n.*307G=) c.826G= (n.826G=) c.696G= (p.Trp232=) c.285G= (p.Trp95=) | |
5 | g.162103962G>T | CA362185125 | GABRG2 | c.667G>T c.825G>T (p.Trp275Cys) n.596G>T c.788G>T c.420G>T (p.Trp140Cys) c.705G>T (p.Trp235Cys) n.767G>T c.582G>T c.96G>T (p.Trp32Cys) c.633G>T (p.Trp211Cys) c.107+35856G>T (n.107+35856G>T) c.639G>T (p.Trp213Cys) n.3236G>T c.143G>T c.618G>T (p.Trp206Cys) c.*307G>T (n.*307G>T) c.826G>T (n.826G>T) c.696G>T (p.Trp232Cys) c.285G>T (p.Trp95Cys) | |
5 | g.162103963A>C | CA447609983 | GABRG2 | c.668A>C c.826A>C (p.Arg276=) n.597A>C c.789A>C c.421A>C (p.Arg141=) c.706A>C (p.Arg236=) n.768A>C c.583A>C c.97A>C (p.Arg33=) c.634A>C (p.Arg212=) c.107+35857A>C (n.107+35857A>C) c.640A>C (p.Arg214=) n.3237A>C c.144A>C c.619A>C (p.Arg207=) c.*308A>C (n.*308A>C) c.827A>C (n.827A>C) c.697A>C (p.Arg233=) c.286A>C (p.Arg96=) | |
5 | g.162103963A>G | CA362185126 | GABRG2 | c.668A>G c.826A>G (p.Arg276Gly) n.597A>G c.789A>G c.421A>G (p.Arg141Gly) c.706A>G (p.Arg236Gly) n.768A>G c.583A>G c.97A>G (p.Arg33Gly) c.634A>G (p.Arg212Gly) c.107+35857A>G (n.107+35857A>G) c.640A>G (p.Arg214Gly) n.3237A>G c.144A>G c.619A>G (p.Arg207Gly) c.*308A>G (n.*308A>G) c.827A>G (n.827A>G) c.697A>G (p.Arg233Gly) c.286A>G (p.Arg96Gly) | |
5 | g.162103963A>T | CA362185127 | GABRG2 | c.668A>T c.826A>T (p.Arg276Trp) n.597A>T c.789A>T c.421A>T (p.Arg141Trp) c.706A>T (p.Arg236Trp) n.768A>T c.583A>T c.97A>T (p.Arg33Trp) c.634A>T (p.Arg212Trp) c.107+35857A>T (n.107+35857A>T) c.640A>T (p.Arg214Trp) n.3237A>T c.144A>T c.619A>T (p.Arg207Trp) c.*308A>T (n.*308A>T) c.827A>T (n.827A>T) c.697A>T (p.Arg233Trp) c.286A>T (p.Arg96Trp) | |
5 | g.162103964G>A | CA362185130 | GABRG2 | c.669G>A c.827G>A (p.Arg276Lys) n.598G>A c.790G>A c.422G>A (p.Arg141Lys) c.707G>A (p.Arg236Lys) n.769G>A c.584G>A c.98G>A (p.Arg33Lys) c.635G>A (p.Arg212Lys) c.107+35858G>A (n.107+35858G>A) c.641G>A (p.Arg214Lys) n.3238G>A c.145G>A c.620G>A (p.Arg207Lys) c.*309G>A (n.*309G>A) c.828G>A (n.828G>A) c.698G>A (p.Arg233Lys) c.287G>A (p.Arg96Lys) | |
5 | g.162103964G>C | CA362185128 | GABRG2 | c.669G>C c.827G>C (p.Arg276Thr) n.598G>C c.790G>C c.422G>C (p.Arg141Thr) c.707G>C (p.Arg236Thr) n.769G>C c.584G>C c.98G>C (p.Arg33Thr) c.635G>C (p.Arg212Thr) c.107+35858G>C (n.107+35858G>C) c.641G>C (p.Arg214Thr) n.3238G>C c.145G>C c.620G>C (p.Arg207Thr) c.*309G>C (n.*309G>C) c.828G>C (n.828G>C) c.698G>C (p.Arg233Thr) c.287G>C (p.Arg96Thr) | |
5 | g.162103964G>T | CA362185129 | GABRG2 | c.669G>T c.827G>T (p.Arg276Met) n.598G>T c.790G>T c.422G>T (p.Arg141Met) c.707G>T (p.Arg236Met) n.769G>T c.584G>T c.98G>T (p.Arg33Met) c.635G>T (p.Arg212Met) c.107+35858G>T (n.107+35858G>T) c.641G>T (p.Arg214Met) n.3238G>T c.145G>T c.620G>T (p.Arg207Met) c.*309G>T (n.*309G>T) c.828G>T (n.828G>T) c.698G>T (p.Arg233Met) c.287G>T (p.Arg96Met) | |
5 | g.162103965G>A | CA447609988 | GABRG2 | c.670G>A c.828G>A (p.Arg276=) n.599G>A c.791G>A c.423G>A (p.Arg141=) c.708G>A (p.Arg236=) n.770G>A c.585G>A c.99G>A (p.Arg33=) c.636G>A (p.Arg212=) c.107+35859G>A (n.107+35859G>A) c.642G>A (p.Arg214=) n.3239G>A c.146G>A c.621G>A (p.Arg207=) c.*310G>A (n.*310G>A) c.829G>A (n.829G>A) c.699G>A (p.Arg233=) c.288G>A (p.Arg96=) | |
5 | g.162103965G>C | CA362185131 | GABRG2 | c.670G>C c.828G>C (p.Arg276Ser) n.599G>C c.791G>C c.423G>C (p.Arg141Ser) c.708G>C (p.Arg236Ser) n.770G>C c.585G>C c.99G>C (p.Arg33Ser) c.636G>C (p.Arg212Ser) c.107+35859G>C (n.107+35859G>C) c.642G>C (p.Arg214Ser) n.3239G>C c.146G>C c.621G>C (p.Arg207Ser) c.*310G>C (n.*310G>C) c.829G>C (n.829G>C) c.699G>C (p.Arg233Ser) c.288G>C (p.Arg96Ser) | |
5 | g.162103965G>T | CA362185132 | GABRG2 | c.670G>T c.828G>T (p.Arg276Ser) n.599G>T c.791G>T c.423G>T (p.Arg141Ser) c.708G>T (p.Arg236Ser) n.770G>T c.585G>T c.99G>T (p.Arg33Ser) c.636G>T (p.Arg212Ser) c.107+35859G>T (n.107+35859G>T) c.642G>T (p.Arg214Ser) n.3239G>T c.146G>T c.621G>T (p.Arg207Ser) c.*310G>T (n.*310G>T) c.829G>T (n.829G>T) c.699G>T (p.Arg233Ser) c.288G>T (p.Arg96Ser) | |
5 | g.162103966C>A | CA362185133 | GABRG2 | c.671C>A c.829C>A (p.Leu277Ile) n.600C>A c.792C>A c.424C>A (p.Leu142Ile) c.709C>A (p.Leu237Ile) n.771C>A c.586C>A c.100C>A (p.Leu34Ile) c.637C>A (p.Leu213Ile) c.107+35860C>A (n.107+35860C>A) c.643C>A (p.Leu215Ile) n.3240C>A c.147C>A c.622C>A (p.Leu208Ile) c.*311C>A (n.*311C>A) c.830C>A (n.830C>A) c.700C>A (p.Leu234Ile) c.289C>A (p.Leu97Ile) | |
5 | g.162103966C>G | CA362185134 | GABRG2 | c.671C>G c.829C>G (p.Leu277Val) n.600C>G c.792C>G c.424C>G (p.Leu142Val) c.709C>G (p.Leu237Val) n.771C>G c.586C>G c.100C>G (p.Leu34Val) c.637C>G (p.Leu213Val) c.107+35860C>G (n.107+35860C>G) c.643C>G (p.Leu215Val) n.3240C>G c.147C>G c.622C>G (p.Leu208Val) c.*311C>G (n.*311C>G) c.830C>G (n.830C>G) c.700C>G (p.Leu234Val) c.289C>G (p.Leu97Val) | |
5 | g.162103966C>T | CA362185135 | GABRG2 | c.671C>T c.829C>T (p.Leu277Phe) n.600C>T c.792C>T c.424C>T (p.Leu142Phe) c.709C>T (p.Leu237Phe) n.771C>T c.586C>T c.100C>T (p.Leu34Phe) c.637C>T (p.Leu213Phe) c.107+35860C>T (n.107+35860C>T) c.643C>T (p.Leu215Phe) n.3240C>T c.147C>T c.622C>T (p.Leu208Phe) c.*311C>T (n.*311C>T) c.830C>T (n.830C>T) c.700C>T (p.Leu234Phe) c.289C>T (p.Leu97Phe) | |
5 | g.162103967T>A | CA362185136 | GABRG2 | c.672T>A c.830T>A (p.Leu277His) n.601T>A c.793T>A c.425T>A (p.Leu142His) c.710T>A (p.Leu237His) n.772T>A c.587T>A c.101T>A (p.Leu34His) c.638T>A (p.Leu213His) c.107+35861T>A (n.107+35861T>A) c.644T>A (p.Leu215His) n.3241T>A c.148T>A c.623T>A (p.Leu208His) c.*312T>A (n.*312T>A) c.831T>A (n.831T>A) c.701T>A (p.Leu234His) c.290T>A (p.Leu97His) | |
5 | g.162103967T>C | CA362185137 | GABRG2 | c.672T>C c.830T>C (p.Leu277Pro) n.601T>C c.793T>C c.425T>C (p.Leu142Pro) c.710T>C (p.Leu237Pro) n.772T>C c.587T>C c.101T>C (p.Leu34Pro) c.638T>C (p.Leu213Pro) c.107+35861T>C (n.107+35861T>C) c.644T>C (p.Leu215Pro) n.3241T>C c.148T>C c.623T>C (p.Leu208Pro) c.*312T>C (n.*312T>C) c.831T>C (n.831T>C) c.701T>C (p.Leu234Pro) c.290T>C (p.Leu97Pro) | |
5 | g.162103967T>G | CA362185138 | GABRG2 | c.672T>G c.830T>G (p.Leu277Arg) n.601T>G c.793T>G c.425T>G (p.Leu142Arg) c.710T>G (p.Leu237Arg) n.772T>G c.587T>G c.101T>G (p.Leu34Arg) c.638T>G (p.Leu213Arg) c.107+35861T>G (n.107+35861T>G) c.644T>G (p.Leu215Arg) n.3241T>G c.148T>G c.623T>G (p.Leu208Arg) c.*312T>G (n.*312T>G) c.831T>G (n.831T>G) c.701T>G (p.Leu234Arg) c.290T>G (p.Leu97Arg) | |
5 | g.162103968T>A | CA447609989 | GABRG2 | c.673T>A c.831T>A (p.Leu277=) n.602T>A c.794T>A c.426T>A (p.Leu142=) c.711T>A (p.Leu237=) n.773T>A c.588T>A c.102T>A (p.Leu34=) c.639T>A (p.Leu213=) c.107+35862T>A (n.107+35862T>A) c.645T>A (p.Leu215=) n.3242T>A c.149T>A c.624T>A (p.Leu208=) c.*313T>A (n.*313T>A) c.832T>A (n.832T>A) c.702T>A (p.Leu234=) c.291T>A (p.Leu97=) | |
5 | g.162103968T>C | CA447609991 | GABRG2 | c.673T>C c.831T>C (p.Leu277=) n.602T>C c.794T>C c.426T>C (p.Leu142=) c.711T>C (p.Leu237=) n.773T>C c.588T>C c.102T>C (p.Leu34=) c.639T>C (p.Leu213=) c.107+35862T>C (n.107+35862T>C) c.645T>C (p.Leu215=) n.3242T>C c.149T>C c.624T>C (p.Leu208=) c.*313T>C (n.*313T>C) c.832T>C (n.832T>C) c.702T>C (p.Leu234=) c.291T>C (p.Leu97=) | |
5 | g.162103968T>G | CA447609990 | GABRG2 | c.673T>G c.831T>G (p.Leu277=) n.602T>G c.794T>G c.426T>G (p.Leu142=) c.711T>G (p.Leu237=) n.773T>G c.588T>G c.102T>G (p.Leu34=) c.639T>G (p.Leu213=) c.107+35862T>G (n.107+35862T>G) c.645T>G (p.Leu215=) n.3242T>G c.149T>G c.624T>G (p.Leu208=) c.*313T>G (n.*313T>G) c.832T>G (n.832T>G) c.702T>G (p.Leu234=) c.291T>G (p.Leu97=) | |
5 | g.162103969T>A | CA362185139 | GABRG2 | c.674T>A c.832T>A (p.Tyr278Asn) n.603T>A c.795T>A c.427T>A (p.Tyr143Asn) c.712T>A (p.Tyr238Asn) n.774T>A c.589T>A c.103T>A (p.Tyr35Asn) c.640T>A (p.Tyr214Asn) c.107+35863T>A (n.107+35863T>A) c.646T>A (p.Tyr216Asn) n.3243T>A c.150T>A c.625T>A (p.Tyr209Asn) c.*314T>A (n.*314T>A) c.833T>A (n.833T>A) c.703T>A (p.Tyr235Asn) c.292T>A (p.Tyr98Asn) | |
5 | g.162103969T>C | CA362185140 | GABRG2 | c.674T>C c.832T>C (p.Tyr278His) n.603T>C c.795T>C c.427T>C (p.Tyr143His) c.712T>C (p.Tyr238His) n.774T>C c.589T>C c.103T>C (p.Tyr35His) c.640T>C (p.Tyr214His) c.107+35863T>C (n.107+35863T>C) c.646T>C (p.Tyr216His) n.3243T>C c.150T>C c.625T>C (p.Tyr209His) c.*314T>C (n.*314T>C) c.833T>C (n.833T>C) c.703T>C (p.Tyr235His) c.292T>C (p.Tyr98His) | |
5 | g.162103969T>G | CA362185141 | GABRG2 | c.674T>G c.832T>G (p.Tyr278Asp) n.603T>G c.795T>G c.427T>G (p.Tyr143Asp) c.712T>G (p.Tyr238Asp) n.774T>G c.589T>G c.103T>G (p.Tyr35Asp) c.640T>G (p.Tyr214Asp) c.107+35863T>G (n.107+35863T>G) c.646T>G (p.Tyr216Asp) n.3243T>G c.150T>G c.625T>G (p.Tyr209Asp) c.*314T>G (n.*314T>G) c.833T>G (n.833T>G) c.703T>G (p.Tyr235Asp) c.292T>G (p.Tyr98Asp) | |
5 | g.162103970A>C | CA362185144 | GABRG2 | c.675A>C c.833A>C (p.Tyr278Ser) n.604A>C c.796A>C c.428A>C (p.Tyr143Ser) c.713A>C (p.Tyr238Ser) n.775A>C c.590A>C c.104A>C (p.Tyr35Ser) c.641A>C (p.Tyr214Ser) c.107+35864A>C (n.107+35864A>C) c.647A>C (p.Tyr216Ser) n.3244A>C c.151A>C c.626A>C (p.Tyr209Ser) c.*315A>C (n.*315A>C) c.834A>C (n.834A>C) c.704A>C (p.Tyr235Ser) c.293A>C (p.Tyr98Ser) | |
5 | g.162103970A>G | CA362185143 | GABRG2 | c.675A>G c.833A>G (p.Tyr278Cys) n.604A>G c.796A>G c.428A>G (p.Tyr143Cys) c.713A>G (p.Tyr238Cys) n.775A>G c.590A>G c.104A>G (p.Tyr35Cys) c.641A>G (p.Tyr214Cys) c.107+35864A>G (n.107+35864A>G) c.647A>G (p.Tyr216Cys) n.3244A>G c.151A>G c.626A>G (p.Tyr209Cys) c.*315A>G (n.*315A>G) c.834A>G (n.834A>G) c.704A>G (p.Tyr235Cys) c.293A>G (p.Tyr98Cys) | |
5 | g.162103970A>T | CA362185142 | GABRG2 | c.675A>T c.833A>T (p.Tyr278Phe) n.604A>T c.796A>T c.428A>T (p.Tyr143Phe) c.713A>T (p.Tyr238Phe) n.775A>T c.590A>T c.104A>T (p.Tyr35Phe) c.641A>T (p.Tyr214Phe) c.107+35864A>T (n.107+35864A>T) c.647A>T (p.Tyr216Phe) n.3244A>T c.151A>T c.626A>T (p.Tyr209Phe) c.*315A>T (n.*315A>T) c.834A>T (n.834A>T) c.704A>T (p.Tyr235Phe) c.293A>T (p.Tyr98Phe) | |
5 | g.162103971T>A | CA362185145 | GABRG2 | c.676T>A c.834T>A (p.Tyr278Ter) n.605T>A c.797T>A c.429T>A (p.Tyr143Ter) c.714T>A (p.Tyr238Ter) n.776T>A c.591T>A c.105T>A (p.Tyr35Ter) c.642T>A (p.Tyr214Ter) c.107+35865T>A (n.107+35865T>A) c.648T>A (p.Tyr216Ter) n.3245T>A c.152T>A c.627T>A (p.Tyr209Ter) c.*316T>A (n.*316T>A) c.835T>A (n.835T>A) c.705T>A (p.Tyr235Ter) c.294T>A (p.Tyr98Ter) | |
5 | g.162103971T>C | CA447609992 | GABRG2 | c.676T>C c.834T>C (p.Tyr278=) n.605T>C c.797T>C c.429T>C (p.Tyr143=) c.714T>C (p.Tyr238=) n.776T>C c.591T>C c.105T>C (p.Tyr35=) c.642T>C (p.Tyr214=) c.107+35865T>C (n.107+35865T>C) c.648T>C (p.Tyr216=) n.3245T>C c.152T>C c.627T>C (p.Tyr209=) c.*316T>C (n.*316T>C) c.835T>C (n.835T>C) c.705T>C (p.Tyr235=) c.294T>C (p.Tyr98=) | dbSNP |
5 | g.162103971T>G | CA362185146 | GABRG2 | c.676T>G c.834T>G (p.Tyr278Ter) n.605T>G c.797T>G c.429T>G (p.Tyr143Ter) c.714T>G (p.Tyr238Ter) n.776T>G c.591T>G c.105T>G (p.Tyr35Ter) c.642T>G (p.Tyr214Ter) c.107+35865T>G (n.107+35865T>G) c.648T>G (p.Tyr216Ter) n.3245T>G c.152T>G c.627T>G (p.Tyr209Ter) c.*316T>G (n.*316T>G) c.835T>G (n.835T>G) c.705T>G (p.Tyr235Ter) c.294T>G (p.Tyr98Ter) | |
5 | g.162103971T= | CA1596365224 | GABRG2 | c.676T= c.834T= (p.Tyr278=) n.605T= c.797T= c.429T= (p.Tyr143=) c.714T= (p.Tyr238=) n.776T= c.591T= c.105T= (p.Tyr35=) c.642T= (p.Tyr214=) c.107+35865T= (n.107+35865T=) c.648T= (p.Tyr216=) n.3245T= c.152T= c.627T= (p.Tyr209=) c.*316T= (n.*316T=) c.835T= (n.835T=) c.705T= (p.Tyr235=) c.294T= (p.Tyr98=) | |
5 | g.162103972C>A | CA362185147 | GABRG2 | c.677C>A c.835C>A (p.Gln279Lys) n.606C>A c.798C>A c.430C>A (p.Gln144Lys) c.715C>A (p.Gln239Lys) n.777C>A c.592C>A c.106C>A (p.Gln36Lys) c.643C>A (p.Gln215Lys) c.107+35866C>A (n.107+35866C>A) c.649C>A (p.Gln217Lys) n.3246C>A c.153C>A c.628C>A (p.Gln210Lys) c.*317C>A (n.*317C>A) c.836C>A (n.836C>A) c.706C>A (p.Gln236Lys) c.295C>A (p.Gln99Lys) | |
5 | g.162103972C>G | CA362185148 | GABRG2 | c.677C>G c.835C>G (p.Gln279Glu) n.606C>G c.798C>G c.430C>G (p.Gln144Glu) c.715C>G (p.Gln239Glu) n.777C>G c.592C>G c.106C>G (p.Gln36Glu) c.643C>G (p.Gln215Glu) c.107+35866C>G (n.107+35866C>G) c.649C>G (p.Gln217Glu) n.3246C>G c.153C>G c.628C>G (p.Gln210Glu) c.*317C>G (n.*317C>G) c.836C>G (n.836C>G) c.706C>G (p.Gln236Glu) c.295C>G (p.Gln99Glu) | |
5 | g.162103972C>T | CA362185149 | GABRG2 | c.677C>T c.835C>T (p.Gln279Ter) n.606C>T c.798C>T c.430C>T (p.Gln144Ter) c.715C>T (p.Gln239Ter) n.777C>T c.592C>T c.106C>T (p.Gln36Ter) c.643C>T (p.Gln215Ter) c.107+35866C>T (n.107+35866C>T) c.649C>T (p.Gln217Ter) n.3246C>T c.153C>T c.628C>T (p.Gln210Ter) c.*317C>T (n.*317C>T) c.836C>T (n.836C>T) c.706C>T (p.Gln236Ter) c.295C>T (p.Gln99Ter) | ClinVar COSMIC |
5 | g.162103973A>C | CA362185152 | GABRG2 | c.678A>C c.836A>C (p.Gln279Pro) n.607A>C c.799A>C c.431A>C (p.Gln144Pro) c.716A>C (p.Gln239Pro) n.778A>C c.593A>C c.107A>C (p.Gln36Pro) c.644A>C (p.Gln215Pro) c.107+35867A>C (n.107+35867A>C) c.650A>C (p.Gln217Pro) n.3247A>C c.154A>C c.629A>C (p.Gln210Pro) c.*318A>C (n.*318A>C) c.837A>C (n.837A>C) c.707A>C (p.Gln236Pro) c.296A>C (p.Gln99Pro) | |
5 | g.162103973A>G | CA362185151 | GABRG2 | c.678A>G c.836A>G (p.Gln279Arg) n.607A>G c.799A>G c.431A>G (p.Gln144Arg) c.716A>G (p.Gln239Arg) n.778A>G c.593A>G c.107A>G (p.Gln36Arg) c.644A>G (p.Gln215Arg) c.107+35867A>G (n.107+35867A>G) c.650A>G (p.Gln217Arg) n.3247A>G c.154A>G c.629A>G (p.Gln210Arg) c.*318A>G (n.*318A>G) c.837A>G (n.837A>G) c.707A>G (p.Gln236Arg) c.296A>G (p.Gln99Arg) | |
5 | g.162103973A>T | CA362185150 | GABRG2 | c.678A>T c.836A>T (p.Gln279Leu) n.607A>T c.799A>T c.431A>T (p.Gln144Leu) c.716A>T (p.Gln239Leu) n.778A>T c.593A>T c.107A>T (p.Gln36Leu) c.644A>T (p.Gln215Leu) c.107+35867A>T (n.107+35867A>T) c.650A>T (p.Gln217Leu) n.3247A>T c.154A>T c.629A>T (p.Gln210Leu) c.*318A>T (n.*318A>T) c.837A>T (n.837A>T) c.707A>T (p.Gln236Leu) c.296A>T (p.Gln99Leu) | dbSNP |
5 | g.162103974A= | CA1596365225 | GABRG2 | c.679A= c.837A= (p.Gln279=) n.608A= c.800A= c.432A= (p.Gln144=) c.717A= (p.Gln239=) n.779A= c.594A= c.108A= (p.Gln36=) c.645A= (p.Gln215=) c.107+35868A= (n.107+35868A=) c.651A= (p.Gln217=) n.3248A= c.155A= c.630A= (p.Gln210=) c.*319A= (n.*319A=) c.838A= (n.838A=) c.708A= (p.Gln236=) c.297A= (p.Gln99=) | |
5 | g.162103974A>C | CA362185153 | GABRG2 | c.679A>C c.837A>C (p.Gln279His) n.608A>C c.800A>C c.432A>C (p.Gln144His) c.717A>C (p.Gln239His) n.779A>C c.594A>C c.108A>C (p.Gln36His) c.645A>C (p.Gln215His) c.107+35868A>C (n.107+35868A>C) c.651A>C (p.Gln217His) n.3248A>C c.155A>C c.630A>C (p.Gln210His) c.*319A>C (n.*319A>C) c.838A>C (n.838A>C) c.708A>C (p.Gln236His) c.297A>C (p.Gln99His) | |
5 | g.162103974A>G | CA288880 | GABRG2 | c.679A>G c.837A>G (p.Gln279=) n.608A>G c.800A>G c.432A>G (p.Gln144=) c.717A>G (p.Gln239=) n.779A>G c.594A>G c.108A>G (p.Gln36=) c.645A>G (p.Gln215=) c.107+35868A>G (n.107+35868A>G) c.651A>G (p.Gln217=) n.3248A>G c.155A>G c.630A>G (p.Gln210=) c.*319A>G (n.*319A>G) c.838A>G (n.838A>G) c.708A>G (p.Gln236=) c.297A>G (p.Gln99=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.162103974A>T | CA362185154 | GABRG2 | c.679A>T c.837A>T (p.Gln279His) n.608A>T c.800A>T c.432A>T (p.Gln144His) c.717A>T (p.Gln239His) n.779A>T c.594A>T c.108A>T (p.Gln36His) c.645A>T (p.Gln215His) c.107+35868A>T (n.107+35868A>T) c.651A>T (p.Gln217His) n.3248A>T c.155A>T c.630A>T (p.Gln210His) c.*319A>T (n.*319A>T) c.838A>T (n.838A>T) c.708A>T (p.Gln236His) c.297A>T (p.Gln99His) | |
5 | g.162103975T>A | CA131112332 | GABRG2 | c.680T>A c.838T>A (p.Phe280Ile) n.609T>A c.801T>A c.433T>A (p.Phe145Ile) c.718T>A (p.Phe240Ile) n.780T>A c.595T>A c.109T>A (p.Phe37Ile) c.646T>A (p.Phe216Ile) c.107+35869T>A (n.107+35869T>A) c.652T>A (p.Phe218Ile) n.3249T>A c.156T>A c.631T>A (p.Phe211Ile) c.*320T>A (n.*320T>A) c.839T>A (n.839T>A) c.709T>A (p.Phe237Ile) c.298T>A (p.Phe100Ile) | dbSNP |
5 | g.162103975T>C | CA362185155 | GABRG2 | c.680T>C c.838T>C (p.Phe280Leu) n.609T>C c.801T>C c.433T>C (p.Phe145Leu) c.718T>C (p.Phe240Leu) n.780T>C c.595T>C c.109T>C (p.Phe37Leu) c.646T>C (p.Phe216Leu) c.107+35869T>C (n.107+35869T>C) c.652T>C (p.Phe218Leu) n.3249T>C c.156T>C c.631T>C (p.Phe211Leu) c.*320T>C (n.*320T>C) c.839T>C (n.839T>C) c.709T>C (p.Phe237Leu) c.298T>C (p.Phe100Leu) | |
5 | g.162103975T>G | CA362185156 | GABRG2 | c.680T>G c.838T>G (p.Phe280Val) n.609T>G c.801T>G c.433T>G (p.Phe145Val) c.718T>G (p.Phe240Val) n.780T>G c.595T>G c.109T>G (p.Phe37Val) c.646T>G (p.Phe216Val) c.107+35869T>G (n.107+35869T>G) c.652T>G (p.Phe218Val) n.3249T>G c.156T>G c.631T>G (p.Phe211Val) c.*320T>G (n.*320T>G) c.839T>G (n.839T>G) c.709T>G (p.Phe237Val) c.298T>G (p.Phe100Val) | |
5 | g.162103975T= | CA1596365226 | GABRG2 | c.680T= c.838T= (p.Phe280=) n.609T= c.801T= c.433T= (p.Phe145=) c.718T= (p.Phe240=) n.780T= c.595T= c.109T= (p.Phe37=) c.646T= (p.Phe216=) c.107+35869T= (n.107+35869T=) c.652T= (p.Phe218=) n.3249T= c.156T= c.631T= (p.Phe211=) c.*320T= (n.*320T=) c.839T= (n.839T=) c.709T= (p.Phe237=) c.298T= (p.Phe100=) | |
5 | g.162103976T>A | CA362185157 | GABRG2 | c.681T>A c.839T>A (p.Phe280Tyr) n.610T>A c.802T>A c.434T>A (p.Phe145Tyr) c.719T>A (p.Phe240Tyr) n.781T>A c.596T>A c.110T>A (p.Phe37Tyr) c.647T>A (p.Phe216Tyr) c.107+35870T>A (n.107+35870T>A) c.653T>A (p.Phe218Tyr) n.3250T>A c.157T>A c.632T>A (p.Phe211Tyr) c.*321T>A (n.*321T>A) c.840T>A (n.840T>A) c.710T>A (p.Phe237Tyr) c.299T>A (p.Phe100Tyr) | |
5 | g.162103976T>C | CA362185159 | GABRG2 | c.681T>C c.839T>C (p.Phe280Ser) n.610T>C c.802T>C c.434T>C (p.Phe145Ser) c.719T>C (p.Phe240Ser) n.781T>C c.596T>C c.110T>C (p.Phe37Ser) c.647T>C (p.Phe216Ser) c.107+35870T>C (n.107+35870T>C) c.653T>C (p.Phe218Ser) n.3250T>C c.157T>C c.632T>C (p.Phe211Ser) c.*321T>C (n.*321T>C) c.840T>C (n.840T>C) c.710T>C (p.Phe237Ser) c.299T>C (p.Phe100Ser) | |
5 | g.162103976T>G | CA362185158 | GABRG2 | c.681T>G c.839T>G (p.Phe280Cys) n.610T>G c.802T>G c.434T>G (p.Phe145Cys) c.719T>G (p.Phe240Cys) n.781T>G c.596T>G c.110T>G (p.Phe37Cys) c.647T>G (p.Phe216Cys) c.107+35870T>G (n.107+35870T>G) c.653T>G (p.Phe218Cys) n.3250T>G c.157T>G c.632T>G (p.Phe211Cys) c.*321T>G (n.*321T>G) c.840T>G (n.840T>G) c.710T>G (p.Phe237Cys) c.299T>G (p.Phe100Cys) | |
5 | g.162103977C>A | CA362185160 | GABRG2 | c.682C>A c.840C>A (p.Phe280Leu) n.611C>A c.803C>A c.435C>A (p.Phe145Leu) c.720C>A (p.Phe240Leu) n.782C>A c.597C>A c.111C>A (p.Phe37Leu) c.648C>A (p.Phe216Leu) c.107+35871C>A (n.107+35871C>A) c.654C>A (p.Phe218Leu) n.3251C>A c.158C>A c.633C>A (p.Phe211Leu) c.*322C>A (n.*322C>A) c.841C>A (n.841C>A) c.711C>A (p.Phe237Leu) c.300C>A (p.Phe100Leu) | |
5 | g.162103977C>G | CA362185161 | GABRG2 | c.682C>G c.840C>G (p.Phe280Leu) n.611C>G c.803C>G c.435C>G (p.Phe145Leu) c.720C>G (p.Phe240Leu) n.782C>G c.597C>G c.111C>G (p.Phe37Leu) c.648C>G (p.Phe216Leu) c.107+35871C>G (n.107+35871C>G) c.654C>G (p.Phe218Leu) n.3251C>G c.158C>G c.633C>G (p.Phe211Leu) c.*322C>G (n.*322C>G) c.841C>G (n.841C>G) c.711C>G (p.Phe237Leu) c.300C>G (p.Phe100Leu) | |
5 | g.162103977C>T | CA447609997 | GABRG2 | c.682C>T c.840C>T (p.Phe280=) n.611C>T c.803C>T c.435C>T (p.Phe145=) c.720C>T (p.Phe240=) n.782C>T c.597C>T c.111C>T (p.Phe37=) c.648C>T (p.Phe216=) c.107+35871C>T (n.107+35871C>T) c.654C>T (p.Phe218=) n.3251C>T c.158C>T c.633C>T (p.Phe211=) c.*322C>T (n.*322C>T) c.841C>T (n.841C>T) c.711C>T (p.Phe237=) c.300C>T (p.Phe100=) | COSMIC |
5 | g.162103978T>A | CA362185162 | GABRG2 | c.683T>A c.841T>A (p.Ser281Thr) n.612T>A c.804T>A c.436T>A (p.Ser146Thr) c.721T>A (p.Ser241Thr) n.783T>A c.598T>A c.112T>A (p.Ser38Thr) c.649T>A (p.Ser217Thr) c.107+35872T>A (n.107+35872T>A) c.655T>A (p.Ser219Thr) n.3252T>A c.159T>A c.634T>A (p.Ser212Thr) c.*323T>A (n.*323T>A) c.842T>A (n.842T>A) c.712T>A (p.Ser238Thr) c.301T>A (p.Ser101Thr) | |
5 | g.162103978T>C | CA362185163 | GABRG2 | c.683T>C c.841T>C (p.Ser281Pro) n.612T>C c.804T>C c.436T>C (p.Ser146Pro) c.721T>C (p.Ser241Pro) n.783T>C c.598T>C c.112T>C (p.Ser38Pro) c.649T>C (p.Ser217Pro) c.107+35872T>C (n.107+35872T>C) c.655T>C (p.Ser219Pro) n.3252T>C c.159T>C c.634T>C (p.Ser212Pro) c.*323T>C (n.*323T>C) c.842T>C (n.842T>C) c.712T>C (p.Ser238Pro) c.301T>C (p.Ser101Pro) | |
5 | g.162103978T>G | CA362185164 | GABRG2 | c.683T>G c.841T>G (p.Ser281Ala) n.612T>G c.804T>G c.436T>G (p.Ser146Ala) c.721T>G (p.Ser241Ala) n.783T>G c.598T>G c.112T>G (p.Ser38Ala) c.649T>G (p.Ser217Ala) c.107+35872T>G (n.107+35872T>G) c.655T>G (p.Ser219Ala) n.3252T>G c.159T>G c.634T>G (p.Ser212Ala) c.*323T>G (n.*323T>G) c.842T>G (n.842T>G) c.712T>G (p.Ser238Ala) c.301T>G (p.Ser101Ala) | ClinVar |
5 | g.162103979C>A | CA362185165 | GABRG2 | c.684C>A c.842C>A (p.Ser281Ter) n.613C>A c.805C>A c.437C>A (p.Ser146Ter) c.722C>A (p.Ser241Ter) n.784C>A c.599C>A c.113C>A (p.Ser38Ter) c.650C>A (p.Ser217Ter) c.107+35873C>A (n.107+35873C>A) c.656C>A (p.Ser219Ter) n.3253C>A c.160C>A c.635C>A (p.Ser212Ter) c.*324C>A (n.*324C>A) c.843C>A (n.843C>A) c.713C>A (p.Ser238Ter) c.302C>A (p.Ser101Ter) | |
5 | g.162103979C>G | CA362185166 | GABRG2 | c.684C>G c.842C>G (p.Ser281Ter) n.613C>G c.805C>G c.437C>G (p.Ser146Ter) c.722C>G (p.Ser241Ter) n.784C>G c.599C>G c.113C>G (p.Ser38Ter) c.650C>G (p.Ser217Ter) c.107+35873C>G (n.107+35873C>G) c.656C>G (p.Ser219Ter) n.3253C>G c.160C>G c.635C>G (p.Ser212Ter) c.*324C>G (n.*324C>G) c.843C>G (n.843C>G) c.713C>G (p.Ser238Ter) c.302C>G (p.Ser101Ter) | |
5 | g.162103979C>T | CA362185167 | GABRG2 | c.684C>T c.842C>T (p.Ser281Leu) n.613C>T c.805C>T c.437C>T (p.Ser146Leu) c.722C>T (p.Ser241Leu) n.784C>T c.599C>T c.113C>T (p.Ser38Leu) c.650C>T (p.Ser217Leu) c.107+35873C>T (n.107+35873C>T) c.656C>T (p.Ser219Leu) n.3253C>T c.160C>T c.635C>T (p.Ser212Leu) c.*324C>T (n.*324C>T) c.843C>T (n.843C>T) c.713C>T (p.Ser238Leu) c.302C>T (p.Ser101Leu) | gnomAD v4 |