Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.162103884G>ACA1596365197GABRG2c.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
5g.162103884G=CA1596365196GABRG2c.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=)
5g.162103884G>TCA2580073995GABRG2c.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
5g.162103885G>ACA2740094170GABRG2c.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
5g.162103887A>CCA362184954GABRG2c.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)
5g.162103887A>GCA362184955GABRG2c.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)
5g.162103887A>TCA362184956GABRG2c.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
5g.162103888G>ACA362184957GABRG2c.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)
5g.162103888G>CCA362184958GABRG2c.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)
5g.162103888G>TCA362184959GABRG2c.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)
5g.162103889A>CCA362184961GABRG2c.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)
5g.162103889A>GCA362184962GABRG2c.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)
5g.162103889A>TCA362184960GABRG2c.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)
5g.162103890T>ACA3544796GABRG2c.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
5g.162103890T>CCA447609914GABRG2c.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=)
5g.162103890T>GCA362184963GABRG2c.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)
5g.162103890T=CA1596365198GABRG2c.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=)
5g.162103891G>ACA362184964GABRG2c.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)
5g.162103891G>CCA362184965GABRG2c.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)
5g.162103891G>TCA362184966GABRG2c.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)
5g.162103892G>ACA362184967GABRG2c.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)
5g.162103892G>CCA362184968GABRG2c.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)
5g.162103892G>TCA362184969GABRG2c.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)
5g.162103893C>ACA447609918GABRG2c.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=)
5g.162103893C=CA1596365199GABRG2c.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=)
5g.162103893C>GCA447609919GABRG2c.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=)
5g.162103893C>TCA447609921GABRG2c.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
5g.162103894T>ACA362184970GABRG2c.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
5g.162103894T>CCA362184971GABRG2c.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)
5g.162103894T>GCA362184972GABRG2c.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)
5g.162103895A>CCA362184974GABRG2c.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)
5g.162103895A>GCA362184975GABRG2c.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)
5g.162103895A>TCA362184973GABRG2c.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)
5g.162103896T>ACA362184976GABRG2c.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)
5g.162103896T>CCA447609922GABRG2c.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=)
5g.162103896T>GCA362184977GABRG2c.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)
5g.162103897C>ACA362184978GABRG2c.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)
5g.162103897C>GCA362184979GABRG2c.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)
5g.162103897C>TCA362184980GABRG2c.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)
5g.162103898C>ACA362184983GABRG2c.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)
5g.162103898C>GCA362184981GABRG2c.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)
5g.162103898C>TCA362184982GABRG2c.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)
5g.162103899A=CA1596365200GABRG2c.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=)
5g.162103899A>CCA131112327GABRG2c.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
5g.162103899A>GCA447609925GABRG2c.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=)
5g.162103899A>TCA447609926GABRG2c.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=)
5g.162103900C>ACA362184984GABRG2c.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
5g.162103900C=CA1596365201GABRG2c.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=)
5g.162103900C>GCA362184985GABRG2c.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)
5g.162103900C>TCA3544797GABRG2c.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
5g.162103901G>ACA362184986GABRG2c.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
5g.162103901G>CCA362184987GABRG2c.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
5g.162103901G=CA1596365202GABRG2c.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=)
5g.162103901G>TCA362184988GABRG2c.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
5g.162103902T>ACA447609927GABRG2c.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=)
5g.162103902T>CCA447609928GABRG2c.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=)
5g.162103902T>GCA447609929GABRG2c.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=)
5g.162103903G>ACA362184990GABRG2c.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)
5g.162103903G>CCA362184991GABRG2c.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)
5g.162103903G>TCA362184989GABRG2c.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)
5g.162103904A>CCA362184994GABRG2c.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)
5g.162103904A>GCA362184992GABRG2c.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)
5g.162103904A>TCA362184993GABRG2c.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)
5g.162103905A>CCA362184995GABRG2c.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)
5g.162103905A>GCA447609931GABRG2c.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=)
5g.162103905A>TCA362184996GABRG2c.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)
5g.162103906G>ACA362184997GABRG2c.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)
5g.162103906G>CCA362184998GABRG2c.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)
5g.162103906G>TCA362184999GABRG2c.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
5g.162103907A=CA1596365203GABRG2c.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=)
5g.162103907A>CCA362185000GABRG2c.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)
5g.162103907A>GCA362185001GABRG2c.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
5g.162103907A>TCA362185002GABRG2c.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)
5g.162103908A>CCA362185003GABRG2c.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)
5g.162103908A>GCA447609932GABRG2c.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
5g.162103908A>TCA362185004GABRG2c.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)
5g.162103911_162103921delCA2740094171GABRG2c.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
5g.162103909A=CA1596365204GABRG2c.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=)
5g.162103909A>CCA362185006GABRG2c.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)
5g.162103909A>GCA362185007GABRG2c.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
5g.162103909A>TCA362185005GABRG2c.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
5g.162103910T>ACA362185008GABRG2c.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)
5g.162103910T>CCA362185009GABRG2c.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)
5g.162103910T>GCA362185010GABRG2c.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
5g.162103911T>ACA447609934GABRG2c.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=)
5g.162103911T>CCA447609935GABRG2c.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=)
5g.162103911T>GCA362185011GABRG2c.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)
5g.162103912delCA2676328414GABRG2c.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
5g.162103912G>ACA3544798GABRG2c.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
5g.162103912G>CCA362185013GABRG2c.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)
5g.162103912G=CA1596365205GABRG2c.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=)
5g.162103912G>TCA362185012GABRG2c.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)
5g.162103913T>ACA362185014GABRG2c.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)
5g.162103913T>CCA362185015GABRG2c.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
5g.162103913T>GCA362185016GABRG2c.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)
5g.162103914T>ACA447609936GABRG2c.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=)
5g.162103914T>CCA131112328GABRG2c.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
5g.162103914T>GCA447609937GABRG2c.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=)
5g.162103914T=CA1596365206GABRG2c.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=)
5g.162103915T>ACA362185017GABRG2c.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)
5g.162103915T>CCA362185018GABRG2c.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)
5g.162103915T>GCA362185019GABRG2c.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)
5g.162103916A>CCA362185022GABRG2c.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)
5g.162103916A>GCA362185021GABRG2c.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
5g.162103916A>TCA362185020GABRG2c.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)
5g.162103917T>ACA362185023GABRG2c.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)
5g.162103917T>CCA447609941GABRG2c.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=)
5g.162103917T>GCA362185024GABRG2c.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)
5g.162103918C>ACA362185025GABRG2c.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)
5g.162103918C=CA1596365207GABRG2c.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=)
5g.162103918C>GCA362185026GABRG2c.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)
5g.162103918C>TCA362185027GABRG2c.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
5g.162103919A>CCA362185028GABRG2c.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)
5g.162103919A>GCA362185029GABRG2c.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)
5g.162103919A>TCA362185030GABRG2c.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)
5g.162103920A>CCA362185031GABRG2c.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)
5g.162103920A>GCA447609942GABRG2c.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
5g.162103920A>TCA362185032GABRG2c.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)
5g.162103921T>ACA362185033GABRG2c.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)
5g.162103921T>CCA362185034GABRG2c.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
5g.162103921T>GCA362185035GABRG2c.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)
5g.162103922G>ACA362185038GABRG2c.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)
5g.162103922G>CCA362185036GABRG2c.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)
5g.162103922G>TCA362185037GABRG2c.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)
5g.162103923G>ACA362185039GABRG2c.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
5g.162103923G>CCA362185040GABRG2c.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)
5g.162103923G=CA1596365208GABRG2c.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=)
5g.162103923G>TCA362185041GABRG2c.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)
5g.162103924A>CCA362185042GABRG2c.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)
5g.162103924A>GCA362185043GABRG2c.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)
5g.162103924A>TCA362185044GABRG2c.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)
5g.162103925A=CA1596365209GABRG2c.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=)
5g.162103925A>CCA362185045GABRG2c.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)
5g.162103925A>GCA362185046GABRG2c.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
5g.162103925A>TCA362185047GABRG2c.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)
5g.162103926G>ACA447609945GABRG2c.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
5g.162103926G>CCA362185048GABRG2c.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)
5g.162103926G>TCA362185049GABRG2c.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)
5g.162103927C>ACA447609949GABRG2c.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=)
5g.162103927C=CA1596365210GABRG2c.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=)
5g.162103927C>GCA362185050GABRG2c.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)
5g.162103927C>TCA131112329GABRG2c.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
5g.162103928G>ACA3544799GABRG2c.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
5g.162103928G>CCA362185052GABRG2c.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)
5g.162103928G=CA1596365211GABRG2c.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=)
5g.162103928G>TCA362185051GABRG2c.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)
5g.162103929A>CCA447609950GABRG2c.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=)
5g.162103929A>GCA447609951GABRG2c.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=)
5g.162103929A>TCA447609952GABRG2c.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=)
5g.162103930A=CA1596365212GABRG2c.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=)
5g.162103930A>CCA362185055GABRG2c.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
5g.162103930A>GCA362185053GABRG2c.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
5g.162103930A>TCA362185054GABRG2c.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)
5g.162103930_162103935delinsAGTTCTCA1596365213GABRG2c.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=)
5g.162103931G>ACA362185056GABRG2c.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)
5g.162103931G>CCA362185057GABRG2c.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)
5g.162103931G>TCA362185058GABRG2c.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)
5g.162103934_162103938delCA658796679GABRG2c.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
5g.162103932T>ACA362185059GABRG2c.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)
5g.162103932T>CCA447609954GABRG2c.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=)
5g.162103932T>GCA362185060GABRG2c.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)
5g.162103933T>ACA362185061GABRG2c.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)
5g.162103933T>CCA362185062GABRG2c.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)
5g.162103933T>GCA362185063GABRG2c.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)
5g.162103934C>ACA362185064GABRG2c.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
5g.162103934C>GCA362185065GABRG2c.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)
5g.162103934C>TCA362185066GABRG2c.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
5g.162103935T>ACA447609955GABRG2c.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=)
5g.162103935T>CCA447609956GABRG2c.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=)
5g.162103935T>GCA447609957GABRG2c.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=)
5g.162103936G>ACA362185069GABRG2c.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
5g.162103936G>CCA362185068GABRG2c.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)
5g.162103936G>TCA362185067GABRG2c.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)
5g.162103937T>ACA362185070GABRG2c.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
5g.162103937T>CCA362185071GABRG2c.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
5g.162103937T>GCA362185072GABRG2c.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
5g.162103938T>ACA447609960GABRG2c.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=)
5g.162103938T>CCA447609959GABRG2c.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=)
5g.162103938T>GCA447609958GABRG2c.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=)
5g.162103939G>ACA362185073GABRG2c.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)
5g.162103939G>CCA362185074GABRG2c.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)
5g.162103939G=CA1596365214GABRG2c.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=)
5g.162103939G>TCA362185075GABRG2c.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
5g.162103940A=CA1596365215GABRG2c.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=)
5g.162103940A>CCA131112330GABRG2c.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
5g.162103940A>GCA362185076GABRG2c.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
5g.162103940A>TCA362185077GABRG2c.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)
5g.162103941A>CCA362185078GABRG2c.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)
5g.162103941A>GCA447609961GABRG2c.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=)
5g.162103941A>TCA362185079GABRG2c.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)
5g.162103942G>ACA362185080GABRG2c.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
5g.162103942G>CCA362185081GABRG2c.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)
5g.162103942G>TCA362185082GABRG2c.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)
5g.162103943T>ACA362185085GABRG2c.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)
5g.162103943T>CCA362185084GABRG2c.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)
5g.162103943T>GCA362185083GABRG2c.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)
5g.162103944G>ACA447609965GABRG2c.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=)
5g.162103944G>CCA447609964GABRG2c.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=)
5g.162103944G>TCA447609963GABRG2c.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
5g.162103945G>ACA362185086GABRG2c.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
5g.162103945G>CCA362185087GABRG2c.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)
5g.162103945G>TCA362185088GABRG2c.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)
5g.162103946G>ACA362185089GABRG2c.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)
5g.162103946G>CCA362185090GABRG2c.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)
5g.162103946G>TCA362185091GABRG2c.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)
5g.162103947C>ACA3544800GABRG2c.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
5g.162103947C=CA1596365216GABRG2c.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=)
5g.162103947C>GCA447609967GABRG2c.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=)
5g.162103947C>TCA3544801GABRG2c.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
5g.162103948G>ACA3544802GABRG2c.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
5g.162103948G>CCA362185092GABRG2c.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)
5g.162103948G=CA1596365217GABRG2c.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=)
5g.162103948G>TCA362185093GABRG2c.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
5g.162103949A>CCA362185094GABRG2c.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)
5g.162103949A>GCA362185095GABRG2c.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)
5g.162103949A>TCA362185096GABRG2c.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)
5g.162103950C>ACA362185098GABRG2c.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)
5g.162103950C>GCA362185097GABRG2c.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)
5g.162103950C>TCA447609970GABRG2c.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=)
5g.162103951A>CCA362185099GABRG2c.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)
5g.162103951A>GCA362185100GABRG2c.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
5g.162103951A>TCA362185101GABRG2c.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)
5g.162103952C>ACA362185102GABRG2c.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)
5g.162103952C>GCA362185103GABRG2c.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)
5g.162103952C>TCA362185104GABRG2c.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)
5g.162103952_162103953delinsCACA1596365218GABRG2c.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=)
5g.162103953A=CA1596365219GABRG2c.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=)
5g.162103953A>CCA447609972GABRG2c.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=)
5g.162103953A>GCA447609973GABRG2c.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
5g.162103953A>TCA447609974GABRG2c.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=)
5g.162103954delCA1139659244GABRG2c.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
5g.162103954A>CCA447609975GABRG2c.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=)
5g.162103954A>GCA362185105GABRG2c.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)
5g.162103954A>TCA362185106GABRG2c.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)
5g.162103955G>ACA362185107GABRG2c.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
5g.162103955G>CCA362185108GABRG2c.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)
5g.162103955G=CA1596365220GABRG2c.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=)
5g.162103955G>TCA362185109GABRG2c.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
5g.162103956A>CCA362185110GABRG2c.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)
5g.162103956A>GCA447609977GABRG2c.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=)
5g.162103956A>TCA362185111GABRG2c.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
5g.162103957T>ACA362185112GABRG2c.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)
5g.162103957T>CCA362185114GABRG2c.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)
5g.162103957T>GCA362185113GABRG2c.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)
5g.162103958C>ACA362185115GABRG2c.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
5g.162103958C>GCA362185117GABRG2c.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)
5g.162103958C>TCA362185116GABRG2c.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
5g.162103959C>ACA447609980GABRG2c.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=)
5g.162103959C=CA1596365221GABRG2c.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=)
5g.162103959C>GCA447609981GABRG2c.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=)
5g.162103959C>TCA3544803GABRG2c.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
5g.162103960T>ACA362185118GABRG2c.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)
5g.162103960T>CCA362185119GABRG2c.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)
5g.162103960T>GCA362185120GABRG2c.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)
5g.162103961G>ACA362185121GABRG2c.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
5g.162103961G>CCA362185122GABRG2c.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)
5g.162103961G=CA1596365222GABRG2c.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=)
5g.162103961G>TCA362185123GABRG2c.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)
5g.162103962G>ACA131112331GABRG2c.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
5g.162103962G>CCA362185124GABRG2c.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)
5g.162103962G=CA1596365223GABRG2c.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=)
5g.162103962G>TCA362185125GABRG2c.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)
5g.162103963A>CCA447609983GABRG2c.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=)
5g.162103963A>GCA362185126GABRG2c.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)
5g.162103963A>TCA362185127GABRG2c.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)
5g.162103964G>ACA362185130GABRG2c.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)
5g.162103964G>CCA362185128GABRG2c.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)
5g.162103964G>TCA362185129GABRG2c.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)
5g.162103965G>ACA447609988GABRG2c.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=)
5g.162103965G>CCA362185131GABRG2c.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)
5g.162103965G>TCA362185132GABRG2c.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)
5g.162103966C>ACA362185133GABRG2c.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)
5g.162103966C>GCA362185134GABRG2c.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)
5g.162103966C>TCA362185135GABRG2c.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)
5g.162103967T>ACA362185136GABRG2c.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)
5g.162103967T>CCA362185137GABRG2c.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)
5g.162103967T>GCA362185138GABRG2c.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)
5g.162103968T>ACA447609989GABRG2c.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=)
5g.162103968T>CCA447609991GABRG2c.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=)
5g.162103968T>GCA447609990GABRG2c.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=)
5g.162103969T>ACA362185139GABRG2c.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)
5g.162103969T>CCA362185140GABRG2c.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)
5g.162103969T>GCA362185141GABRG2c.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)
5g.162103970A>CCA362185144GABRG2c.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)
5g.162103970A>GCA362185143GABRG2c.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)
5g.162103970A>TCA362185142GABRG2c.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)
5g.162103971T>ACA362185145GABRG2c.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)
5g.162103971T>CCA447609992GABRG2c.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
5g.162103971T>GCA362185146GABRG2c.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)
5g.162103971T=CA1596365224GABRG2c.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=)
5g.162103972C>ACA362185147GABRG2c.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)
5g.162103972C>GCA362185148GABRG2c.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)
5g.162103972C>TCA362185149GABRG2c.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
5g.162103973A>CCA362185152GABRG2c.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)
5g.162103973A>GCA362185151GABRG2c.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)
5g.162103973A>TCA362185150GABRG2c.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
5g.162103974A=CA1596365225GABRG2c.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=)
5g.162103974A>CCA362185153GABRG2c.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)
5g.162103974A>GCA288880GABRG2c.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
5g.162103974A>TCA362185154GABRG2c.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)
5g.162103975T>ACA131112332GABRG2c.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
5g.162103975T>CCA362185155GABRG2c.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)
5g.162103975T>GCA362185156GABRG2c.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)
5g.162103975T=CA1596365226GABRG2c.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=)
5g.162103976T>ACA362185157GABRG2c.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)
5g.162103976T>CCA362185159GABRG2c.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)
5g.162103976T>GCA362185158GABRG2c.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)
5g.162103977C>ACA362185160GABRG2c.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)
5g.162103977C>GCA362185161GABRG2c.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)
5g.162103977C>TCA447609997GABRG2c.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
5g.162103978T>ACA362185162GABRG2c.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)
5g.162103978T>CCA362185163GABRG2c.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)
5g.162103978T>GCA362185164GABRG2c.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
5g.162103979C>ACA362185165GABRG2c.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)
5g.162103979C>GCA362185166GABRG2c.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)
5g.162103979C>TCA362185167GABRG2c.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
5g.162103980A=CA1596365227GABRG2c.685A=
c.843A= (p.Ser281=)
n.614A=
c.806A=
c.438A= (p.Ser146=)
c.723A= (p.Ser241=)
n.785A=
c.600A=
c.114A= (p.Ser38=)
c.651A= (p.Ser217=)
c.107+35874A= (n.107+35874A=)
c.657A= (p.Ser219=)
n.3254A=
c.161A=
c.636A= (p.Ser212=)
c.*325A= (n.*325A=)
c.844A= (n.844A=)
c.714A= (p.Ser238=)
c.303A= (p.Ser101=)
5g.162103980A>CCA447609998GABRG2c.685A>C
c.843A>C (p.Ser281=)
n.614A>C
c.806A>C
c.438A>C (p.Ser146=)
c.723A>C (p.Ser241=)
n.785A>C
c.600A>C
c.114A>C (p.Ser38=)
c.651A>C (p.Ser217=)
c.107+35874A>C (n.107+35874A>C)
c.657A>C (p.Ser219=)
n.3254A>C
c.161A>C
c.636A>C (p.Ser212=)
c.*325A>C (n.*325A>C)
c.844A>C (n.844A>C)
c.714A>C (p.Ser238=)
c.303A>C (p.Ser101=)
 gnomAD v4
5g.162103980A>GCA447609999GABRG2c.685A>G
c.843A>G (p.Ser281=)
n.614A>G
c.806A>G
c.438A>G (p.Ser146=)
c.723A>G (p.Ser241=)
n.785A>G
c.600A>G
c.114A>G (p.Ser38=)
c.651A>G (p.Ser217=)
c.107+35874A>G (n.107+35874A>G)
c.657A>G (p.Ser219=)
n.3254A>G
c.161A>G
c.636A>G (p.Ser212=)
c.*325A>G (n.*325A>G)
c.844A>G (n.844A>G)
c.714A>G (p.Ser238=)
c.303A>G (p.Ser101=)
 ClinVar dbSNP gnomAD v4
5g.162103980A>TCA447610000GABRG2c.685A>T
c.843A>T (p.Ser281=)
n.614A>T
c.806A>T
c.438A>T (p.Ser146=)
c.723A>T (p.Ser241=)
n.785A>T
c.600A>T
c.114A>T (p.Ser38=)
c.651A>T (p.Ser217=)
c.107+35874A>T (n.107+35874A>T)
c.657A>T (p.Ser219=)
n.3254A>T
c.161A>T
c.636A>T (p.Ser212=)
c.*325A>T (n.*325A>T)
c.844A>T (n.844A>T)
c.714A>T (p.Ser238=)
c.303A>T (p.Ser101=)
 dbSNP
5g.162103981T>ACA362185168GABRG2c.686T>A
c.844T>A (p.Phe282Ile)
n.615T>A
c.807T>A
c.439T>A (p.Phe147Ile)
c.724T>A (p.Phe242Ile)
n.786T>A
c.601T>A
c.115T>A (p.Phe39Ile)
c.652T>A (p.Phe218Ile)
c.107+35875T>A (n.107+35875T>A)
c.658T>A (p.Phe220Ile)
n.3255T>A
c.162T>A
c.637T>A (p.Phe213Ile)
c.*326T>A (n.*326T>A)
c.845T>A (n.845T>A)
c.715T>A (p.Phe239Ile)
c.304T>A (p.Phe102Ile)
5g.162103981T>CCA362185169GABRG2c.686T>C
c.844T>C (p.Phe282Leu)
n.615T>C
c.807T>C
c.439T>C (p.Phe147Leu)
c.724T>C (p.Phe242Leu)
n.786T>C
c.601T>C
c.115T>C (p.Phe39Leu)
c.652T>C (p.Phe218Leu)
c.107+35875T>C (n.107+35875T>C)
c.658T>C (p.Phe220Leu)
n.3255T>C
c.162T>C
c.637T>C (p.Phe213Leu)
c.*326T>C (n.*326T>C)
c.845T>C (n.845T>C)
c.715T>C (p.Phe239Leu)
c.304T>C (p.Phe102Leu)
 COSMIC
5g.162103981T>GCA362185170GABRG2c.686T>G
c.844T>G (p.Phe282Val)
n.615T>G
c.807T>G
c.439T>G (p.Phe147Val)
c.724T>G (p.Phe242Val)
n.786T>G
c.601T>G
c.115T>G (p.Phe39Val)
c.652T>G (p.Phe218Val)
c.107+35875T>G (n.107+35875T>G)
c.658T>G (p.Phe220Val)
n.3255T>G
c.162T>G
c.637T>G (p.Phe213Val)
c.*326T>G (n.*326T>G)
c.845T>G (n.845T>G)
c.715T>G (p.Phe239Val)
c.304T>G (p.Phe102Val)
5g.162103982T>ACA362185172GABRG2c.687T>A
c.845T>A (p.Phe282Tyr)
n.616T>A
c.808T>A
c.440T>A (p.Phe147Tyr)
c.725T>A (p.Phe242Tyr)
n.787T>A
c.602T>A
c.116T>A (p.Phe39Tyr)
c.653T>A (p.Phe218Tyr)
c.107+35876T>A (n.107+35876T>A)
c.659T>A (p.Phe220Tyr)
n.3256T>A
c.163T>A
c.638T>A (p.Phe213Tyr)
c.*327T>A (n.*327T>A)
c.846T>A (n.846T>A)
c.716T>A (p.Phe239Tyr)
c.305T>A (p.Phe102Tyr)
5g.162103982T>CCA362185173GABRG2c.687T>C
c.845T>C (p.Phe282Ser)
n.616T>C
c.808T>C
c.440T>C (p.Phe147Ser)
c.725T>C (p.Phe242Ser)
n.787T>C
c.602T>C
c.116T>C (p.Phe39Ser)
c.653T>C (p.Phe218Ser)
c.107+35876T>C (n.107+35876T>C)
c.659T>C (p.Phe220Ser)
n.3256T>C
c.163T>C
c.638T>C (p.Phe213Ser)
c.*327T>C (n.*327T>C)
c.846T>C (n.846T>C)
c.716T>C (p.Phe239Ser)
c.305T>C (p.Phe102Ser)
5g.162103982T>GCA362185171GABRG2c.687T>G
c.845T>G (p.Phe282Cys)
n.616T>G
c.808T>G
c.440T>G (p.Phe147Cys)
c.725T>G (p.Phe242Cys)
n.787T>G
c.602T>G
c.116T>G (p.Phe39Cys)
c.653T>G (p.Phe218Cys)
c.107+35876T>G (n.107+35876T>G)
c.659T>G (p.Phe220Cys)
n.3256T>G
c.163T>G
c.638T>G (p.Phe213Cys)
c.*327T>G (n.*327T>G)
c.846T>G (n.846T>G)
c.716T>G (p.Phe239Cys)
c.305T>G (p.Phe102Cys)
5g.162103983T>ACA362185174GABRG2c.688T>A
c.846T>A (p.Phe282Leu)
n.617T>A
c.809T>A
c.441T>A (p.Phe147Leu)
c.726T>A (p.Phe242Leu)
n.788T>A
c.603T>A
c.117T>A (p.Phe39Leu)
c.654T>A (p.Phe218Leu)
c.107+35877T>A (n.107+35877T>A)
c.660T>A (p.Phe220Leu)
n.3257T>A
c.164T>A
c.639T>A (p.Phe213Leu)
c.*328T>A (n.*328T>A)
c.847T>A (n.847T>A)
c.717T>A (p.Phe239Leu)
c.306T>A (p.Phe102Leu)
5g.162103983T>CCA447610002GABRG2c.688T>C
c.846T>C (p.Phe282=)
n.617T>C
c.809T>C
c.441T>C (p.Phe147=)
c.726T>C (p.Phe242=)
n.788T>C
c.603T>C
c.117T>C (p.Phe39=)
c.654T>C (p.Phe218=)
c.107+35877T>C (n.107+35877T>C)
c.660T>C (p.Phe220=)
n.3257T>C
c.164T>C
c.639T>C (p.Phe213=)
c.*328T>C (n.*328T>C)
c.847T>C (n.847T>C)
c.717T>C (p.Phe239=)
c.306T>C (p.Phe102=)
5g.162103983T>GCA362185175GABRG2c.688T>G
c.846T>G (p.Phe282Leu)
n.617T>G
c.809T>G
c.441T>G (p.Phe147Leu)
c.726T>G (p.Phe242Leu)
n.788T>G
c.603T>G
c.117T>G (p.Phe39Leu)
c.654T>G (p.Phe218Leu)
c.107+35877T>G (n.107+35877T>G)
c.660T>G (p.Phe220Leu)
n.3257T>G
c.164T>G
c.639T>G (p.Phe213Leu)
c.*328T>G (n.*328T>G)
c.847T>G (n.847T>G)
c.717T>G (p.Phe239Leu)
c.306T>G (p.Phe102Leu)
5g.162103984G>ACA362185176GABRG2c.689G>A
c.847G>A (p.Val283Ile)
n.618G>A
c.810G>A
c.442G>A (p.Val148Ile)
c.727G>A (p.Val243Ile)
n.789G>A
c.604G>A
c.118G>A (p.Val40Ile)
c.655G>A (p.Val219Ile)
c.107+35878G>A (n.107+35878G>A)
c.661G>A (p.Val221Ile)
n.3258G>A
c.165G>A
c.640G>A (p.Val214Ile)
c.*329G>A (n.*329G>A)
c.848G>A (n.848G>A)
c.718G>A (p.Val240Ile)
c.307G>A (p.Val103Ile)
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.162103984G>CCA362185178GABRG2c.689G>C
c.847G>C (p.Val283Leu)
n.618G>C
c.810G>C
c.442G>C (p.Val148Leu)
c.727G>C (p.Val243Leu)
n.789G>C
c.604G>C
c.118G>C (p.Val40Leu)
c.655G>C (p.Val219Leu)
c.107+35878G>C (n.107+35878G>C)
c.661G>C (p.Val221Leu)
n.3258G>C
c.165G>C
c.640G>C (p.Val214Leu)
c.*329G>C (n.*329G>C)
c.848G>C (n.848G>C)
c.718G>C (p.Val240Leu)
c.307G>C (p.Val103Leu)
5g.162103984G=CA1596365228GABRG2c.689G=
c.847G= (p.Val283=)
n.618G=
c.810G=
c.442G= (p.Val148=)
c.727G= (p.Val243=)
n.789G=
c.604G=
c.118G= (p.Val40=)
c.655G= (p.Val219=)
c.107+35878G= (n.107+35878G=)
c.661G= (p.Val221=)
n.3258G=
c.165G=
c.640G= (p.Val214=)
c.*329G= (n.*329G=)
c.848G= (n.848G=)
c.718G= (p.Val240=)
c.307G= (p.Val103=)
5g.162103984G>TCA362185177GABRG2c.689G>T
c.847G>T (p.Val283Phe)
n.618G>T
c.810G>T
c.442G>T (p.Val148Phe)
c.727G>T (p.Val243Phe)
n.789G>T
c.604G>T
c.118G>T (p.Val40Phe)
c.655G>T (p.Val219Phe)
c.107+35878G>T (n.107+35878G>T)
c.661G>T (p.Val221Phe)
n.3258G>T
c.165G>T
c.640G>T (p.Val214Phe)
c.*329G>T (n.*329G>T)
c.848G>T (n.848G>T)
c.718G>T (p.Val240Phe)
c.307G>T (p.Val103Phe)
 ClinVar dbSNP

Number of alleles fetched