Chr Mutation (hg38) CAid Gene Transcript Linkouts
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
5g.162103985T>ACA362185179GABRG2c.690T>A
c.848T>A (p.Val283Asp)
n.619T>A
c.811T>A
c.443T>A (p.Val148Asp)
c.728T>A (p.Val243Asp)
n.790T>A
c.605T>A
c.119T>A (p.Val40Asp)
c.656T>A (p.Val219Asp)
c.107+35879T>A (n.107+35879T>A)
c.662T>A (p.Val221Asp)
n.3259T>A
c.166T>A
c.641T>A (p.Val214Asp)
c.*330T>A (n.*330T>A)
c.849T>A (n.849T>A)
c.719T>A (p.Val240Asp)
c.308T>A (p.Val103Asp)
5g.162103985T>CCA362185180GABRG2c.690T>C
c.848T>C (p.Val283Ala)
n.619T>C
c.811T>C
c.443T>C (p.Val148Ala)
c.728T>C (p.Val243Ala)
n.790T>C
c.605T>C
c.119T>C (p.Val40Ala)
c.656T>C (p.Val219Ala)
c.107+35879T>C (n.107+35879T>C)
c.662T>C (p.Val221Ala)
n.3259T>C
c.166T>C
c.641T>C (p.Val214Ala)
c.*330T>C (n.*330T>C)
c.849T>C (n.849T>C)
c.719T>C (p.Val240Ala)
c.308T>C (p.Val103Ala)
 dbSNP gnomAD v2 gnomAD v4
5g.162103985T>GCA362185181GABRG2c.690T>G
c.848T>G (p.Val283Gly)
n.619T>G
c.811T>G
c.443T>G (p.Val148Gly)
c.728T>G (p.Val243Gly)
n.790T>G
c.605T>G
c.119T>G (p.Val40Gly)
c.656T>G (p.Val219Gly)
c.107+35879T>G (n.107+35879T>G)
c.662T>G (p.Val221Gly)
n.3259T>G
c.166T>G
c.641T>G (p.Val214Gly)
c.*330T>G (n.*330T>G)
c.849T>G (n.849T>G)
c.719T>G (p.Val240Gly)
c.308T>G (p.Val103Gly)
5g.162103985T=CA1596365229GABRG2c.690T=
c.848T= (p.Val283=)
n.619T=
c.811T=
c.443T= (p.Val148=)
c.728T= (p.Val243=)
n.790T=
c.605T=
c.119T= (p.Val40=)
c.656T= (p.Val219=)
c.107+35879T= (n.107+35879T=)
c.662T= (p.Val221=)
n.3259T=
c.166T=
c.641T= (p.Val214=)
c.*330T= (n.*330T=)
c.849T= (n.849T=)
c.719T= (p.Val240=)
c.308T= (p.Val103=)
5g.162103986T>ACA447610003GABRG2c.691T>A
c.849T>A (p.Val283=)
n.620T>A
c.812T>A
c.444T>A (p.Val148=)
c.729T>A (p.Val243=)
n.791T>A
c.606T>A
c.120T>A (p.Val40=)
c.657T>A (p.Val219=)
c.107+35880T>A (n.107+35880T>A)
c.663T>A (p.Val221=)
n.3260T>A
c.167T>A
c.642T>A (p.Val214=)
c.*331T>A (n.*331T>A)
c.850T>A (n.850T>A)
c.720T>A (p.Val240=)
c.309T>A (p.Val103=)
5g.162103986T>CCA447610004GABRG2c.691T>C
c.849T>C (p.Val283=)
n.620T>C
c.812T>C
c.444T>C (p.Val148=)
c.729T>C (p.Val243=)
n.791T>C
c.606T>C
c.120T>C (p.Val40=)
c.657T>C (p.Val219=)
c.107+35880T>C (n.107+35880T>C)
c.663T>C (p.Val221=)
n.3260T>C
c.167T>C
c.642T>C (p.Val214=)
c.*331T>C (n.*331T>C)
c.850T>C (n.850T>C)
c.720T>C (p.Val240=)
c.309T>C (p.Val103=)
5g.162103986T>GCA447610005GABRG2c.691T>G
c.849T>G (p.Val283=)
n.620T>G
c.812T>G
c.444T>G (p.Val148=)
c.729T>G (p.Val243=)
n.791T>G
c.606T>G
c.120T>G (p.Val40=)
c.657T>G (p.Val219=)
c.107+35880T>G (n.107+35880T>G)
c.663T>G (p.Val221=)
n.3260T>G
c.167T>G
c.642T>G (p.Val214=)
c.*331T>G (n.*331T>G)
c.850T>G (n.850T>G)
c.720T>G (p.Val240=)
c.309T>G (p.Val103=)
5g.162103987G>ACA362185182GABRG2c.692G>A
c.850G>A (p.Gly284Ser)
n.621G>A
c.813G>A
c.445G>A (p.Gly149Ser)
c.730G>A (p.Gly244Ser)
n.792G>A
c.607G>A
c.121G>A (p.Gly41Ser)
c.658G>A (p.Gly220Ser)
c.107+35881G>A (n.107+35881G>A)
c.664G>A (p.Gly222Ser)
n.3261G>A
c.168G>A
c.643G>A (p.Gly215Ser)
c.*332G>A (n.*332G>A)
c.851G>A (n.851G>A)
c.721G>A (p.Gly241Ser)
c.310G>A (p.Gly104Ser)
5g.162103987G>CCA362185183GABRG2c.692G>C
c.850G>C (p.Gly284Arg)
n.621G>C
c.813G>C
c.445G>C (p.Gly149Arg)
c.730G>C (p.Gly244Arg)
n.792G>C
c.607G>C
c.121G>C (p.Gly41Arg)
c.658G>C (p.Gly220Arg)
c.107+35881G>C (n.107+35881G>C)
c.664G>C (p.Gly222Arg)
n.3261G>C
c.168G>C
c.643G>C (p.Gly215Arg)
c.*332G>C (n.*332G>C)
c.851G>C (n.851G>C)
c.721G>C (p.Gly241Arg)
c.310G>C (p.Gly104Arg)
5g.162103987G>TCA362185184GABRG2c.692G>T
c.850G>T (p.Gly284Cys)
n.621G>T
c.813G>T
c.445G>T (p.Gly149Cys)
c.730G>T (p.Gly244Cys)
n.792G>T
c.607G>T
c.121G>T (p.Gly41Cys)
c.658G>T (p.Gly220Cys)
c.107+35881G>T (n.107+35881G>T)
c.664G>T (p.Gly222Cys)
n.3261G>T
c.168G>T
c.643G>T (p.Gly215Cys)
c.*332G>T (n.*332G>T)
c.851G>T (n.851G>T)
c.721G>T (p.Gly241Cys)
c.310G>T (p.Gly104Cys)
 COSMIC
5g.162103988G>ACA362185185GABRG2c.693G>A
c.851G>A (p.Gly284Asp)
n.622G>A
c.814G>A
c.446G>A (p.Gly149Asp)
c.731G>A (p.Gly244Asp)
n.793G>A
c.608G>A
c.122G>A (p.Gly41Asp)
c.659G>A (p.Gly220Asp)
c.107+35882G>A (n.107+35882G>A)
c.665G>A (p.Gly222Asp)
n.3262G>A
c.169G>A
c.644G>A (p.Gly215Asp)
c.*333G>A (n.*333G>A)
c.852G>A (n.852G>A)
c.722G>A (p.Gly241Asp)
c.311G>A (p.Gly104Asp)
 dbSNP gnomAD v3 gnomAD v4
5g.162103988G>CCA362185186GABRG2c.693G>C
c.851G>C (p.Gly284Ala)
n.622G>C
c.814G>C
c.446G>C (p.Gly149Ala)
c.731G>C (p.Gly244Ala)
n.793G>C
c.608G>C
c.122G>C (p.Gly41Ala)
c.659G>C (p.Gly220Ala)
c.107+35882G>C (n.107+35882G>C)
c.665G>C (p.Gly222Ala)
n.3262G>C
c.169G>C
c.644G>C (p.Gly215Ala)
c.*333G>C (n.*333G>C)
c.852G>C (n.852G>C)
c.722G>C (p.Gly241Ala)
c.311G>C (p.Gly104Ala)
5g.162103988G=CA1596365230GABRG2c.693G=
c.851G= (p.Gly284=)
n.622G=
c.814G=
c.446G= (p.Gly149=)
c.731G= (p.Gly244=)
n.793G=
c.608G=
c.122G= (p.Gly41=)
c.659G= (p.Gly220=)
c.107+35882G= (n.107+35882G=)
c.665G= (p.Gly222=)
n.3262G=
c.169G=
c.644G= (p.Gly215=)
c.*333G= (n.*333G=)
c.852G= (n.852G=)
c.722G= (p.Gly241=)
c.311G= (p.Gly104=)
5g.162103988G>TCA362185187GABRG2c.693G>T
c.851G>T (p.Gly284Val)
n.622G>T
c.814G>T
c.446G>T (p.Gly149Val)
c.731G>T (p.Gly244Val)
n.793G>T
c.608G>T
c.122G>T (p.Gly41Val)
c.659G>T (p.Gly220Val)
c.107+35882G>T (n.107+35882G>T)
c.665G>T (p.Gly222Val)
n.3262G>T
c.169G>T
c.644G>T (p.Gly215Val)
c.*333G>T (n.*333G>T)
c.852G>T (n.852G>T)
c.722G>T (p.Gly241Val)
c.311G>T (p.Gly104Val)
5g.162103989T>ACA447610009GABRG2c.694T>A
c.852T>A (p.Gly284=)
n.623T>A
c.815T>A
c.447T>A (p.Gly149=)
c.732T>A (p.Gly244=)
n.794T>A
c.609T>A
c.123T>A (p.Gly41=)
c.660T>A (p.Gly220=)
c.107+35883T>A (n.107+35883T>A)
c.666T>A (p.Gly222=)
n.3263T>A
c.170T>A
c.645T>A (p.Gly215=)
c.*334T>A (n.*334T>A)
c.853T>A (n.853T>A)
c.723T>A (p.Gly241=)
c.312T>A (p.Gly104=)
5g.162103989T>CCA447610010GABRG2c.694T>C
c.852T>C (p.Gly284=)
n.623T>C
c.815T>C
c.447T>C (p.Gly149=)
c.732T>C (p.Gly244=)
n.794T>C
c.609T>C
c.123T>C (p.Gly41=)
c.660T>C (p.Gly220=)
c.107+35883T>C (n.107+35883T>C)
c.666T>C (p.Gly222=)
n.3263T>C
c.170T>C
c.645T>C (p.Gly215=)
c.*334T>C (n.*334T>C)
c.853T>C (n.853T>C)
c.723T>C (p.Gly241=)
c.312T>C (p.Gly104=)
5g.162103989T>GCA447610011GABRG2c.694T>G
c.852T>G (p.Gly284=)
n.623T>G
c.815T>G
c.447T>G (p.Gly149=)
c.732T>G (p.Gly244=)
n.794T>G
c.609T>G
c.123T>G (p.Gly41=)
c.660T>G (p.Gly220=)
c.107+35883T>G (n.107+35883T>G)
c.666T>G (p.Gly222=)
n.3263T>G
c.170T>G
c.645T>G (p.Gly215=)
c.*334T>G (n.*334T>G)
c.853T>G (n.853T>G)
c.723T>G (p.Gly241=)
c.312T>G (p.Gly104=)
5g.162103990C>ACA362185188GABRG2c.695C>A
c.853C>A (p.Leu285Ile)
n.624C>A
c.816C>A
c.448C>A (p.Leu150Ile)
c.733C>A (p.Leu245Ile)
n.795C>A
c.610C>A
c.124C>A (p.Leu42Ile)
c.661C>A (p.Leu221Ile)
c.107+35884C>A (n.107+35884C>A)
c.667C>A (p.Leu223Ile)
n.3264C>A
c.171C>A
c.646C>A (p.Leu216Ile)
c.*335C>A (n.*335C>A)
c.854C>A (n.854C>A)
c.724C>A (p.Leu242Ile)
c.313C>A (p.Leu105Ile)
5g.162103990C>GCA362185189GABRG2c.695C>G
c.853C>G (p.Leu285Val)
n.624C>G
c.816C>G
c.448C>G (p.Leu150Val)
c.733C>G (p.Leu245Val)
n.795C>G
c.610C>G
c.124C>G (p.Leu42Val)
c.661C>G (p.Leu221Val)
c.107+35884C>G (n.107+35884C>G)
c.667C>G (p.Leu223Val)
n.3264C>G
c.171C>G
c.646C>G (p.Leu216Val)
c.*335C>G (n.*335C>G)
c.854C>G (n.854C>G)
c.724C>G (p.Leu242Val)
c.313C>G (p.Leu105Val)
5g.162103990C>TCA447610012GABRG2c.695C>T
c.853C>T (p.Leu285=)
n.624C>T
c.816C>T
c.448C>T (p.Leu150=)
c.733C>T (p.Leu245=)
n.795C>T
c.610C>T
c.124C>T (p.Leu42=)
c.661C>T (p.Leu221=)
c.107+35884C>T (n.107+35884C>T)
c.667C>T (p.Leu223=)
n.3264C>T
c.171C>T
c.646C>T (p.Leu216=)
c.*335C>T (n.*335C>T)
c.854C>T (n.854C>T)
c.724C>T (p.Leu242=)
c.313C>T (p.Leu105=)
 ClinVar gnomAD v4
5g.162103991T>ACA362185190GABRG2c.696T>A
c.854T>A (p.Leu285Gln)
n.625T>A
c.817T>A
c.449T>A (p.Leu150Gln)
c.734T>A (p.Leu245Gln)
n.796T>A
c.611T>A
c.125T>A (p.Leu42Gln)
c.662T>A (p.Leu221Gln)
c.107+35885T>A (n.107+35885T>A)
c.668T>A (p.Leu223Gln)
n.3265T>A
c.172T>A
c.647T>A (p.Leu216Gln)
c.*336T>A (n.*336T>A)
c.855T>A (n.855T>A)
c.725T>A (p.Leu242Gln)
c.314T>A (p.Leu105Gln)
5g.162103991T>CCA362185191GABRG2c.696T>C
c.854T>C (p.Leu285Pro)
n.625T>C
c.817T>C
c.449T>C (p.Leu150Pro)
c.734T>C (p.Leu245Pro)
n.796T>C
c.611T>C
c.125T>C (p.Leu42Pro)
c.662T>C (p.Leu221Pro)
c.107+35885T>C (n.107+35885T>C)
c.668T>C (p.Leu223Pro)
n.3265T>C
c.172T>C
c.647T>C (p.Leu216Pro)
c.*336T>C (n.*336T>C)
c.855T>C (n.855T>C)
c.725T>C (p.Leu242Pro)
c.314T>C (p.Leu105Pro)
5g.162103991T>GCA362185192GABRG2c.696T>G
c.854T>G (p.Leu285Arg)
n.625T>G
c.817T>G
c.449T>G (p.Leu150Arg)
c.734T>G (p.Leu245Arg)
n.796T>G
c.611T>G
c.125T>G (p.Leu42Arg)
c.662T>G (p.Leu221Arg)
c.107+35885T>G (n.107+35885T>G)
c.668T>G (p.Leu223Arg)
n.3265T>G
c.172T>G
c.647T>G (p.Leu216Arg)
c.*336T>G (n.*336T>G)
c.855T>G (n.855T>G)
c.725T>G (p.Leu242Arg)
c.314T>G (p.Leu105Arg)
5g.162103992A>CCA447610013GABRG2c.697A>C
c.855A>C (p.Leu285=)
n.626A>C
c.818A>C
c.450A>C (p.Leu150=)
c.735A>C (p.Leu245=)
n.797A>C
c.612A>C
c.126A>C (p.Leu42=)
c.663A>C (p.Leu221=)
c.107+35886A>C (n.107+35886A>C)
c.669A>C (p.Leu223=)
n.3266A>C
c.173A>C
c.648A>C (p.Leu216=)
c.*337A>C (n.*337A>C)
c.856A>C (n.856A>C)
c.726A>C (p.Leu242=)
c.315A>C (p.Leu105=)
5g.162103992A>GCA447610014GABRG2c.697A>G
c.855A>G (p.Leu285=)
n.626A>G
c.818A>G
c.450A>G (p.Leu150=)
c.735A>G (p.Leu245=)
n.797A>G
c.612A>G
c.126A>G (p.Leu42=)
c.663A>G (p.Leu221=)
c.107+35886A>G (n.107+35886A>G)
c.669A>G (p.Leu223=)
n.3266A>G
c.173A>G
c.648A>G (p.Leu216=)
c.*337A>G (n.*337A>G)
c.856A>G (n.856A>G)
c.726A>G (p.Leu242=)
c.315A>G (p.Leu105=)
 gnomAD v4
5g.162103992A>TCA447610015GABRG2c.697A>T
c.855A>T (p.Leu285=)
n.626A>T
c.818A>T
c.450A>T (p.Leu150=)
c.735A>T (p.Leu245=)
n.797A>T
c.612A>T
c.126A>T (p.Leu42=)
c.663A>T (p.Leu221=)
c.107+35886A>T (n.107+35886A>T)
c.669A>T (p.Leu223=)
n.3266A>T
c.173A>T
c.648A>T (p.Leu216=)
c.*337A>T (n.*337A>T)
c.856A>T (n.856A>T)
c.726A>T (p.Leu242=)
c.315A>T (p.Leu105=)
5g.162103994_162103997delCA2580073999GABRG2c.699_702del
c.857_860del (p.Arg286IlefsTer5)
n.628_631del
c.820_823del
c.452_455del (p.Arg151IlefsTer5)
c.737_740del (p.Arg246IlefsTer5)
n.799_802del
c.614_617del
c.128_131del (p.Arg43IlefsTer5)
c.665_668del (p.Arg222IlefsTer5)
c.107+35888_107+35891del (n.107+35888_107+35891del)
c.671_674del (p.Arg224IlefsTer5)
n.3268_3271del
c.175_178del
c.650_653del (p.Arg217IlefsTer5)
c.*339_*342del (n.*339_*342del)
c.858_861del (n.858_861del)
c.728_731del (p.Arg243IlefsTer5)
c.317_320del (p.Arg106IlefsTer5)
 ClinVar
5g.162103993A>CCA447610017GABRG2c.698A>C
c.856A>C (p.Arg286=)
n.627A>C
c.819A>C
c.451A>C (p.Arg151=)
c.736A>C (p.Arg246=)
n.798A>C
c.613A>C
c.127A>C (p.Arg43=)
c.664A>C (p.Arg222=)
c.107+35887A>C (n.107+35887A>C)
c.670A>C (p.Arg224=)
n.3267A>C
c.174A>C
c.649A>C (p.Arg217=)
c.*338A>C (n.*338A>C)
c.857A>C (n.857A>C)
c.727A>C (p.Arg243=)
c.316A>C (p.Arg106=)
 COSMIC
5g.162103993A>GCA362185193GABRG2c.698A>G
c.856A>G (p.Arg286Gly)
n.627A>G
c.819A>G
c.451A>G (p.Arg151Gly)
c.736A>G (p.Arg246Gly)
n.798A>G
c.613A>G
c.127A>G (p.Arg43Gly)
c.664A>G (p.Arg222Gly)
c.107+35887A>G (n.107+35887A>G)
c.670A>G (p.Arg224Gly)
n.3267A>G
c.174A>G
c.649A>G (p.Arg217Gly)
c.*338A>G (n.*338A>G)
c.857A>G (n.857A>G)
c.727A>G (p.Arg243Gly)
c.316A>G (p.Arg106Gly)
5g.162103993A>TCA362185194GABRG2c.698A>T
c.856A>T (p.Arg286Ter)
n.627A>T
c.819A>T
c.451A>T (p.Arg151Ter)
c.736A>T (p.Arg246Ter)
n.798A>T
c.613A>T
c.127A>T (p.Arg43Ter)
c.664A>T (p.Arg222Ter)
c.107+35887A>T (n.107+35887A>T)
c.670A>T (p.Arg224Ter)
n.3267A>T
c.174A>T
c.649A>T (p.Arg217Ter)
c.*338A>T (n.*338A>T)
c.857A>T (n.857A>T)
c.727A>T (p.Arg243Ter)
c.316A>T (p.Arg106Ter)
5g.162103994G>ACA362185195GABRG2c.699G>A
c.857G>A (p.Arg286Lys)
n.628G>A
c.820G>A
c.452G>A (p.Arg151Lys)
c.737G>A (p.Arg246Lys)
n.799G>A
c.614G>A
c.128G>A (p.Arg43Lys)
c.665G>A (p.Arg222Lys)
c.107+35888G>A (n.107+35888G>A)
c.671G>A (p.Arg224Lys)
n.3268G>A
c.175G>A
c.650G>A (p.Arg217Lys)
c.*339G>A (n.*339G>A)
c.858G>A (n.858G>A)
c.728G>A (p.Arg243Lys)
c.317G>A (p.Arg106Lys)
5g.162103994G>CCA362185196GABRG2c.699G>C
c.857G>C (p.Arg286Thr)
n.628G>C
c.820G>C
c.452G>C (p.Arg151Thr)
c.737G>C (p.Arg246Thr)
n.799G>C
c.614G>C
c.128G>C (p.Arg43Thr)
c.665G>C (p.Arg222Thr)
c.107+35888G>C (n.107+35888G>C)
c.671G>C (p.Arg224Thr)
n.3268G>C
c.175G>C
c.650G>C (p.Arg217Thr)
c.*339G>C (n.*339G>C)
c.858G>C (n.858G>C)
c.728G>C (p.Arg243Thr)
c.317G>C (p.Arg106Thr)
5g.162103994G>TCA362185197GABRG2c.699G>T
c.857G>T (p.Arg286Ile)
n.628G>T
c.820G>T
c.452G>T (p.Arg151Ile)
c.737G>T (p.Arg246Ile)
n.799G>T
c.614G>T
c.128G>T (p.Arg43Ile)
c.665G>T (p.Arg222Ile)
c.107+35888G>T (n.107+35888G>T)
c.671G>T (p.Arg224Ile)
n.3268G>T
c.175G>T
c.650G>T (p.Arg217Ile)
c.*339G>T (n.*339G>T)
c.858G>T (n.858G>T)
c.728G>T (p.Arg243Ile)
c.317G>T (p.Arg106Ile)
5g.162103995A=CA1596365231GABRG2c.700A=
c.858A= (p.Arg286=)
n.629A=
c.821A=
c.453A= (p.Arg151=)
c.738A= (p.Arg246=)
n.800A=
c.615A=
c.129A= (p.Arg43=)
c.666A= (p.Arg222=)
c.107+35889A= (n.107+35889A=)
c.672A= (p.Arg224=)
n.3269A=
c.176A=
c.651A= (p.Arg217=)
c.*340A= (n.*340A=)
c.859A= (n.859A=)
c.729A= (p.Arg243=)
c.318A= (p.Arg106=)
5g.162103995A>CCA362185198GABRG2c.700A>C
c.858A>C (p.Arg286Ser)
n.629A>C
c.821A>C
c.453A>C (p.Arg151Ser)
c.738A>C (p.Arg246Ser)
n.800A>C
c.615A>C
c.129A>C (p.Arg43Ser)
c.666A>C (p.Arg222Ser)
c.107+35889A>C (n.107+35889A>C)
c.672A>C (p.Arg224Ser)
n.3269A>C
c.176A>C
c.651A>C (p.Arg217Ser)
c.*340A>C (n.*340A>C)
c.859A>C (n.859A>C)
c.729A>C (p.Arg243Ser)
c.318A>C (p.Arg106Ser)
5g.162103995A>GCA3544804GABRG2c.700A>G
c.858A>G (p.Arg286=)
n.629A>G
c.821A>G
c.453A>G (p.Arg151=)
c.738A>G (p.Arg246=)
n.800A>G
c.615A>G
c.129A>G (p.Arg43=)
c.666A>G (p.Arg222=)
c.107+35889A>G (n.107+35889A>G)
c.672A>G (p.Arg224=)
n.3269A>G
c.176A>G
c.651A>G (p.Arg217=)
c.*340A>G (n.*340A>G)
c.859A>G (n.859A>G)
c.729A>G (p.Arg243=)
c.318A>G (p.Arg106=)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.162103995A>TCA362185199GABRG2c.700A>T
c.858A>T (p.Arg286Ser)
n.629A>T
c.821A>T
c.453A>T (p.Arg151Ser)
c.738A>T (p.Arg246Ser)
n.800A>T
c.615A>T
c.129A>T (p.Arg43Ser)
c.666A>T (p.Arg222Ser)
c.107+35889A>T (n.107+35889A>T)
c.672A>T (p.Arg224Ser)
n.3269A>T
c.176A>T
c.651A>T (p.Arg217Ser)
c.*340A>T (n.*340A>T)
c.859A>T (n.859A>T)
c.729A>T (p.Arg243Ser)
c.318A>T (p.Arg106Ser)
5g.162103996A>CCA362185200GABRG2c.701A>C
c.859A>C (p.Asn287His)
n.630A>C
c.822A>C
c.454A>C (p.Asn152His)
c.739A>C (p.Asn247His)
n.801A>C
c.616A>C
c.130A>C (p.Asn44His)
c.667A>C (p.Asn223His)
c.107+35890A>C (n.107+35890A>C)
c.673A>C (p.Asn225His)
n.3270A>C
c.177A>C
c.652A>C (p.Asn218His)
c.*341A>C (n.*341A>C)
c.860A>C (n.860A>C)
c.730A>C (p.Asn244His)
c.319A>C (p.Asn107His)
5g.162103996A>GCA362185201GABRG2c.701A>G
c.859A>G (p.Asn287Asp)
n.630A>G
c.822A>G
c.454A>G (p.Asn152Asp)
c.739A>G (p.Asn247Asp)
n.801A>G
c.616A>G
c.130A>G (p.Asn44Asp)
c.667A>G (p.Asn223Asp)
c.107+35890A>G (n.107+35890A>G)
c.673A>G (p.Asn225Asp)
n.3270A>G
c.177A>G
c.652A>G (p.Asn218Asp)
c.*341A>G (n.*341A>G)
c.860A>G (n.860A>G)
c.730A>G (p.Asn244Asp)
c.319A>G (p.Asn107Asp)
5g.162103996A>TCA362185202GABRG2c.701A>T
c.859A>T (p.Asn287Tyr)
n.630A>T
c.822A>T
c.454A>T (p.Asn152Tyr)
c.739A>T (p.Asn247Tyr)
n.801A>T
c.616A>T
c.130A>T (p.Asn44Tyr)
c.667A>T (p.Asn223Tyr)
c.107+35890A>T (n.107+35890A>T)
c.673A>T (p.Asn225Tyr)
n.3270A>T
c.177A>T
c.652A>T (p.Asn218Tyr)
c.*341A>T (n.*341A>T)
c.860A>T (n.860A>T)
c.730A>T (p.Asn244Tyr)
c.319A>T (p.Asn107Tyr)
5g.162103997A>CCA362185203GABRG2c.702A>C
c.860A>C (p.Asn287Thr)
n.631A>C
c.823A>C
c.455A>C (p.Asn152Thr)
c.740A>C (p.Asn247Thr)
n.802A>C
c.617A>C
c.131A>C (p.Asn44Thr)
c.668A>C (p.Asn223Thr)
c.107+35891A>C (n.107+35891A>C)
c.674A>C (p.Asn225Thr)
n.3271A>C
c.178A>C
c.653A>C (p.Asn218Thr)
c.*342A>C (n.*342A>C)
c.861A>C (n.861A>C)
c.731A>C (p.Asn244Thr)
c.320A>C (p.Asn107Thr)
5g.162103997A>GCA362185204GABRG2c.702A>G
c.860A>G (p.Asn287Ser)
n.631A>G
c.823A>G
c.455A>G (p.Asn152Ser)
c.740A>G (p.Asn247Ser)
n.802A>G
c.617A>G
c.131A>G (p.Asn44Ser)
c.668A>G (p.Asn223Ser)
c.107+35891A>G (n.107+35891A>G)
c.674A>G (p.Asn225Ser)
n.3271A>G
c.178A>G
c.653A>G (p.Asn218Ser)
c.*342A>G (n.*342A>G)
c.861A>G (n.861A>G)
c.731A>G (p.Asn244Ser)
c.320A>G (p.Asn107Ser)
5g.162103997A>TCA362185205GABRG2c.702A>T
c.860A>T (p.Asn287Ile)
n.631A>T
c.823A>T
c.455A>T (p.Asn152Ile)
c.740A>T (p.Asn247Ile)
n.802A>T
c.617A>T
c.131A>T (p.Asn44Ile)
c.668A>T (p.Asn223Ile)
c.107+35891A>T (n.107+35891A>T)
c.674A>T (p.Asn225Ile)
n.3271A>T
c.178A>T
c.653A>T (p.Asn218Ile)
c.*342A>T (n.*342A>T)
c.861A>T (n.861A>T)
c.731A>T (p.Asn244Ile)
c.320A>T (p.Asn107Ile)
5g.162103998T>ACA362185206GABRG2c.703T>A
c.861T>A (p.Asn287Lys)
n.632T>A
c.824T>A
c.456T>A (p.Asn152Lys)
c.741T>A (p.Asn247Lys)
n.803T>A
c.618T>A
c.132T>A (p.Asn44Lys)
c.669T>A (p.Asn223Lys)
c.107+35892T>A (n.107+35892T>A)
c.675T>A (p.Asn225Lys)
n.3272T>A
c.179T>A
c.654T>A (p.Asn218Lys)
c.*343T>A (n.*343T>A)
c.862T>A (n.862T>A)
c.732T>A (p.Asn244Lys)
c.321T>A (p.Asn107Lys)
5g.162103998T>CCA447610018GABRG2c.703T>C
c.861T>C (p.Asn287=)
n.632T>C
c.824T>C
c.456T>C (p.Asn152=)
c.741T>C (p.Asn247=)
n.803T>C
c.618T>C
c.132T>C (p.Asn44=)
c.669T>C (p.Asn223=)
c.107+35892T>C (n.107+35892T>C)
c.675T>C (p.Asn225=)
n.3272T>C
c.179T>C
c.654T>C (p.Asn218=)
c.*343T>C (n.*343T>C)
c.862T>C (n.862T>C)
c.732T>C (p.Asn244=)
c.321T>C (p.Asn107=)
5g.162103998T>GCA362185207GABRG2c.703T>G
c.861T>G (p.Asn287Lys)
n.632T>G
c.824T>G
c.456T>G (p.Asn152Lys)
c.741T>G (p.Asn247Lys)
n.803T>G
c.618T>G
c.132T>G (p.Asn44Lys)
c.669T>G (p.Asn223Lys)
c.107+35892T>G (n.107+35892T>G)
c.675T>G (p.Asn225Lys)
n.3272T>G
c.179T>G
c.654T>G (p.Asn218Lys)
c.*343T>G (n.*343T>G)
c.862T>G (n.862T>G)
c.732T>G (p.Asn244Lys)
c.321T>G (p.Asn107Lys)
5g.162103999A=CA1596365232GABRG2c.704A=
c.862A= (p.Thr288=)
n.633A=
c.825A=
c.457A= (p.Thr153=)
c.742A= (p.Thr248=)
n.804A=
c.619A=
c.133A= (p.Thr45=)
c.670A= (p.Thr224=)
c.107+35893A= (n.107+35893A=)
c.676A= (p.Thr226=)
n.3273A=
c.180A=
c.655A= (p.Thr219=)
c.*344A= (n.*344A=)
c.863A= (n.863A=)
c.733A= (p.Thr245=)
c.322A= (p.Thr108=)
5g.162103999A>CCA362185208GABRG2c.704A>C
c.862A>C (p.Thr288Pro)
n.633A>C
c.825A>C
c.457A>C (p.Thr153Pro)
c.742A>C (p.Thr248Pro)
n.804A>C
c.619A>C
c.133A>C (p.Thr45Pro)
c.670A>C (p.Thr224Pro)
c.107+35893A>C (n.107+35893A>C)
c.676A>C (p.Thr226Pro)
n.3273A>C
c.180A>C
c.655A>C (p.Thr219Pro)
c.*344A>C (n.*344A>C)
c.863A>C (n.863A>C)
c.733A>C (p.Thr245Pro)
c.322A>C (p.Thr108Pro)
5g.162103999A>GCA362185209GABRG2c.704A>G
c.862A>G (p.Thr288Ala)
n.633A>G
c.825A>G
c.457A>G (p.Thr153Ala)
c.742A>G (p.Thr248Ala)
n.804A>G
c.619A>G
c.133A>G (p.Thr45Ala)
c.670A>G (p.Thr224Ala)
c.107+35893A>G (n.107+35893A>G)
c.676A>G (p.Thr226Ala)
n.3273A>G
c.180A>G
c.655A>G (p.Thr219Ala)
c.*344A>G (n.*344A>G)
c.863A>G (n.863A>G)
c.733A>G (p.Thr245Ala)
c.322A>G (p.Thr108Ala)
 dbSNP gnomAD v3 gnomAD v4
5g.162103999A>TCA362185210GABRG2c.704A>T
c.862A>T (p.Thr288Ser)
n.633A>T
c.825A>T
c.457A>T (p.Thr153Ser)
c.742A>T (p.Thr248Ser)
n.804A>T
c.619A>T
c.133A>T (p.Thr45Ser)
c.670A>T (p.Thr224Ser)
c.107+35893A>T (n.107+35893A>T)
c.676A>T (p.Thr226Ser)
n.3273A>T
c.180A>T
c.655A>T (p.Thr219Ser)
c.*344A>T (n.*344A>T)
c.863A>T (n.863A>T)
c.733A>T (p.Thr245Ser)
c.322A>T (p.Thr108Ser)
5g.162104000C>ACA362185211GABRG2c.705C>A
c.863C>A (p.Thr288Asn)
n.634C>A
c.826C>A
c.458C>A (p.Thr153Asn)
c.743C>A (p.Thr248Asn)
n.805C>A
c.620C>A
c.134C>A (p.Thr45Asn)
c.671C>A (p.Thr224Asn)
c.107+35894C>A (n.107+35894C>A)
c.677C>A (p.Thr226Asn)
n.3274C>A
c.181C>A
c.656C>A (p.Thr219Asn)
c.*345C>A (n.*345C>A)
c.864C>A (n.864C>A)
c.734C>A (p.Thr245Asn)
c.323C>A (p.Thr108Asn)
5g.162104000C=CA1596365233GABRG2c.705C=
c.863C= (p.Thr288=)
n.634C=
c.826C=
c.458C= (p.Thr153=)
c.743C= (p.Thr248=)
n.805C=
c.620C=
c.134C= (p.Thr45=)
c.671C= (p.Thr224=)
c.107+35894C= (n.107+35894C=)
c.677C= (p.Thr226=)
n.3274C=
c.181C=
c.656C= (p.Thr219=)
c.*345C= (n.*345C=)
c.864C= (n.864C=)
c.734C= (p.Thr245=)
c.323C= (p.Thr108=)
5g.162104000C>GCA362185212GABRG2c.705C>G
c.863C>G (p.Thr288Ser)
n.634C>G
c.826C>G
c.458C>G (p.Thr153Ser)
c.743C>G (p.Thr248Ser)
n.805C>G
c.620C>G
c.134C>G (p.Thr45Ser)
c.671C>G (p.Thr224Ser)
c.107+35894C>G (n.107+35894C>G)
c.677C>G (p.Thr226Ser)
n.3274C>G
c.181C>G
c.656C>G (p.Thr219Ser)
c.*345C>G (n.*345C>G)
c.864C>G (n.864C>G)
c.734C>G (p.Thr245Ser)
c.323C>G (p.Thr108Ser)
5g.162104000C>TCA362185213GABRG2c.705C>T
c.863C>T (p.Thr288Ile)
n.634C>T
c.826C>T
c.458C>T (p.Thr153Ile)
c.743C>T (p.Thr248Ile)
n.805C>T
c.620C>T
c.134C>T (p.Thr45Ile)
c.671C>T (p.Thr224Ile)
c.107+35894C>T (n.107+35894C>T)
c.677C>T (p.Thr226Ile)
n.3274C>T
c.181C>T
c.656C>T (p.Thr219Ile)
c.*345C>T (n.*345C>T)
c.864C>T (n.864C>T)
c.734C>T (p.Thr245Ile)
c.323C>T (p.Thr108Ile)
 dbSNP COSMIC
5g.162104001C>ACA447610020GABRG2c.706C>A
c.864C>A (p.Thr288=)
n.635C>A
c.827C>A
c.459C>A (p.Thr153=)
c.744C>A (p.Thr248=)
n.806C>A
c.621C>A
c.135C>A (p.Thr45=)
c.672C>A (p.Thr224=)
c.107+35895C>A (n.107+35895C>A)
c.678C>A (p.Thr226=)
n.3275C>A
c.182C>A
c.657C>A (p.Thr219=)
c.*346C>A (n.*346C>A)
c.865C>A (n.865C>A)
c.735C>A (p.Thr245=)
c.324C>A (p.Thr108=)
5g.162104001C=CA1596365234GABRG2c.706C=
c.864C= (p.Thr288=)
n.635C=
c.827C=
c.459C= (p.Thr153=)
c.744C= (p.Thr248=)
n.806C=
c.621C=
c.135C= (p.Thr45=)
c.672C= (p.Thr224=)
c.107+35895C= (n.107+35895C=)
c.678C= (p.Thr226=)
n.3275C=
c.182C=
c.657C= (p.Thr219=)
c.*346C= (n.*346C=)
c.865C= (n.865C=)
c.735C= (p.Thr245=)
c.324C= (p.Thr108=)
5g.162104001C>GCA447610021GABRG2c.706C>G
c.864C>G (p.Thr288=)
n.635C>G
c.827C>G
c.459C>G (p.Thr153=)
c.744C>G (p.Thr248=)
n.806C>G
c.621C>G
c.135C>G (p.Thr45=)
c.672C>G (p.Thr224=)
c.107+35895C>G (n.107+35895C>G)
c.678C>G (p.Thr226=)
n.3275C>G
c.182C>G
c.657C>G (p.Thr219=)
c.*346C>G (n.*346C>G)
c.865C>G (n.865C>G)
c.735C>G (p.Thr245=)
c.324C>G (p.Thr108=)
5g.162104001C>TCA3544805GABRG2c.706C>T
c.864C>T (p.Thr288=)
n.635C>T
c.827C>T
c.459C>T (p.Thr153=)
c.744C>T (p.Thr248=)
n.806C>T
c.621C>T
c.135C>T (p.Thr45=)
c.672C>T (p.Thr224=)
c.107+35895C>T (n.107+35895C>T)
c.678C>T (p.Thr226=)
n.3275C>T
c.182C>T
c.657C>T (p.Thr219=)
c.*346C>T (n.*346C>T)
c.865C>T (n.865C>T)
c.735C>T (p.Thr245=)
c.324C>T (p.Thr108=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.162104002A=CA1596365235GABRG2c.707A=
c.865A= (p.Thr289=)
n.636A=
c.828A=
c.460A= (p.Thr154=)
c.745A= (p.Thr249=)
n.807A=
c.622A=
c.136A= (p.Thr46=)
c.673A= (p.Thr225=)
c.107+35896A= (n.107+35896A=)
c.679A= (p.Thr227=)
n.3276A=
c.183A=
c.658A= (p.Thr220=)
c.*347A= (n.*347A=)
c.866A= (n.866A=)
c.736A= (p.Thr246=)
c.325A= (p.Thr109=)
5g.162104002A>CCA362185214GABRG2c.707A>C
c.865A>C (p.Thr289Pro)
n.636A>C
c.828A>C
c.460A>C (p.Thr154Pro)
c.745A>C (p.Thr249Pro)
n.807A>C
c.622A>C
c.136A>C (p.Thr46Pro)
c.673A>C (p.Thr225Pro)
c.107+35896A>C (n.107+35896A>C)
c.679A>C (p.Thr227Pro)
n.3276A>C
c.183A>C
c.658A>C (p.Thr220Pro)
c.*347A>C (n.*347A>C)
c.866A>C (n.866A>C)
c.736A>C (p.Thr246Pro)
c.325A>C (p.Thr109Pro)
5g.162104002A>GCA362185215GABRG2c.707A>G
c.865A>G (p.Thr289Ala)
n.636A>G
c.828A>G
c.460A>G (p.Thr154Ala)
c.745A>G (p.Thr249Ala)
n.807A>G
c.622A>G
c.136A>G (p.Thr46Ala)
c.673A>G (p.Thr225Ala)
c.107+35896A>G (n.107+35896A>G)
c.679A>G (p.Thr227Ala)
n.3276A>G
c.183A>G
c.658A>G (p.Thr220Ala)
c.*347A>G (n.*347A>G)
c.866A>G (n.866A>G)
c.736A>G (p.Thr246Ala)
c.325A>G (p.Thr109Ala)
 dbSNP
5g.162104002A>TCA362185216GABRG2c.707A>T
c.865A>T (p.Thr289Ser)
n.636A>T
c.828A>T
c.460A>T (p.Thr154Ser)
c.745A>T (p.Thr249Ser)
n.807A>T
c.622A>T
c.136A>T (p.Thr46Ser)
c.673A>T (p.Thr225Ser)
c.107+35896A>T (n.107+35896A>T)
c.679A>T (p.Thr227Ser)
n.3276A>T
c.183A>T
c.658A>T (p.Thr220Ser)
c.*347A>T (n.*347A>T)
c.866A>T (n.866A>T)
c.736A>T (p.Thr246Ser)
c.325A>T (p.Thr109Ser)
5g.162104003C>ACA362185217GABRG2c.708C>A
c.866C>A (p.Thr289Asn)
n.637C>A
c.829C>A
c.461C>A (p.Thr154Asn)
c.746C>A (p.Thr249Asn)
n.808C>A
c.623C>A
c.137C>A (p.Thr46Asn)
c.674C>A (p.Thr225Asn)
c.107+35897C>A (n.107+35897C>A)
c.680C>A (p.Thr227Asn)
n.3277C>A
c.184C>A
c.659C>A (p.Thr220Asn)
c.*348C>A (n.*348C>A)
c.867C>A (n.867C>A)
c.737C>A (p.Thr246Asn)
c.326C>A (p.Thr109Asn)
5g.162104003C>GCA362185218GABRG2c.708C>G
c.866C>G (p.Thr289Ser)
n.637C>G
c.829C>G
c.461C>G (p.Thr154Ser)
c.746C>G (p.Thr249Ser)
n.808C>G
c.623C>G
c.137C>G (p.Thr46Ser)
c.674C>G (p.Thr225Ser)
c.107+35897C>G (n.107+35897C>G)
c.680C>G (p.Thr227Ser)
n.3277C>G
c.184C>G
c.659C>G (p.Thr220Ser)
c.*348C>G (n.*348C>G)
c.867C>G (n.867C>G)
c.737C>G (p.Thr246Ser)
c.326C>G (p.Thr109Ser)
5g.162104003C>TCA362185219GABRG2c.708C>T
c.866C>T (p.Thr289Ile)
n.637C>T
c.829C>T
c.461C>T (p.Thr154Ile)
c.746C>T (p.Thr249Ile)
n.808C>T
c.623C>T
c.137C>T (p.Thr46Ile)
c.674C>T (p.Thr225Ile)
c.107+35897C>T (n.107+35897C>T)
c.680C>T (p.Thr227Ile)
n.3277C>T
c.184C>T
c.659C>T (p.Thr220Ile)
c.*348C>T (n.*348C>T)
c.867C>T (n.867C>T)
c.737C>T (p.Thr246Ile)
c.326C>T (p.Thr109Ile)
5g.162104004C>ACA447610022GABRG2c.709C>A
c.867C>A (p.Thr289=)
n.638C>A
c.830C>A
c.462C>A (p.Thr154=)
c.747C>A (p.Thr249=)
n.809C>A
c.624C>A
c.138C>A (p.Thr46=)
c.675C>A (p.Thr225=)
c.107+35898C>A (n.107+35898C>A)
c.681C>A (p.Thr227=)
n.3278C>A
c.185C>A
c.660C>A (p.Thr220=)
c.*349C>A (n.*349C>A)
c.868C>A (n.868C>A)
c.738C>A (p.Thr246=)
c.327C>A (p.Thr109=)
5g.162104004C=CA1596365236GABRG2c.709C=
c.867C= (p.Thr289=)
n.638C=
c.830C=
c.462C= (p.Thr154=)
c.747C= (p.Thr249=)
n.809C=
c.624C=
c.138C= (p.Thr46=)
c.675C= (p.Thr225=)
c.107+35898C= (n.107+35898C=)
c.681C= (p.Thr227=)
n.3278C=
c.185C=
c.660C= (p.Thr220=)
c.*349C= (n.*349C=)
c.868C= (n.868C=)
c.738C= (p.Thr246=)
c.327C= (p.Thr109=)
5g.162104004C>GCA447610023GABRG2c.709C>G
c.867C>G (p.Thr289=)
n.638C>G
c.830C>G
c.462C>G (p.Thr154=)
c.747C>G (p.Thr249=)
n.809C>G
c.624C>G
c.138C>G (p.Thr46=)
c.675C>G (p.Thr225=)
c.107+35898C>G (n.107+35898C>G)
c.681C>G (p.Thr227=)
n.3278C>G
c.185C>G
c.660C>G (p.Thr220=)
c.*349C>G (n.*349C>G)
c.868C>G (n.868C>G)
c.738C>G (p.Thr246=)
c.327C>G (p.Thr109=)
5g.162104004C>TCA447610024GABRG2c.709C>T
c.867C>T (p.Thr289=)
n.638C>T
c.830C>T
c.462C>T (p.Thr154=)
c.747C>T (p.Thr249=)
n.809C>T
c.624C>T
c.138C>T (p.Thr46=)
c.675C>T (p.Thr225=)
c.107+35898C>T (n.107+35898C>T)
c.681C>T (p.Thr227=)
n.3278C>T
c.185C>T
c.660C>T (p.Thr220=)
c.*349C>T (n.*349C>T)
c.868C>T (n.868C>T)
c.738C>T (p.Thr246=)
c.327C>T (p.Thr109=)
 ClinVar dbSNP gnomAD v4
5g.162104005G>ACA131112333GABRG2c.710G>A
c.868G>A (p.Glu290Lys)
n.639G>A
c.831G>A
c.463G>A (p.Glu155Lys)
c.748G>A (p.Glu250Lys)
n.810G>A
c.625G>A
c.139G>A (p.Glu47Lys)
c.676G>A (p.Glu226Lys)
c.107+35899G>A (n.107+35899G>A)
c.682G>A (p.Glu228Lys)
n.3279G>A
c.186G>A
c.661G>A (p.Glu221Lys)
c.*350G>A (n.*350G>A)
c.869G>A (n.869G>A)
c.739G>A (p.Glu247Lys)
c.328G>A (p.Glu110Lys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.162104005G>CCA362185220GABRG2c.710G>C
c.868G>C (p.Glu290Gln)
n.639G>C
c.831G>C
c.463G>C (p.Glu155Gln)
c.748G>C (p.Glu250Gln)
n.810G>C
c.625G>C
c.139G>C (p.Glu47Gln)
c.676G>C (p.Glu226Gln)
c.107+35899G>C (n.107+35899G>C)
c.682G>C (p.Glu228Gln)
n.3279G>C
c.186G>C
c.661G>C (p.Glu221Gln)
c.*350G>C (n.*350G>C)
c.869G>C (n.869G>C)
c.739G>C (p.Glu247Gln)
c.328G>C (p.Glu110Gln)
5g.162104005G=CA1596365237GABRG2c.710G=
c.868G= (p.Glu290=)
n.639G=
c.831G=
c.463G= (p.Glu155=)
c.748G= (p.Glu250=)
n.810G=
c.625G=
c.139G= (p.Glu47=)
c.676G= (p.Glu226=)
c.107+35899G= (n.107+35899G=)
c.682G= (p.Glu228=)
n.3279G=
c.186G=
c.661G= (p.Glu221=)
c.*350G= (n.*350G=)
c.869G= (n.869G=)
c.739G= (p.Glu247=)
c.328G= (p.Glu110=)
5g.162104005G>TCA362185221GABRG2c.710G>T
c.868G>T (p.Glu290Ter)
n.639G>T
c.831G>T
c.463G>T (p.Glu155Ter)
c.748G>T (p.Glu250Ter)
n.810G>T
c.625G>T
c.139G>T (p.Glu47Ter)
c.676G>T (p.Glu226Ter)
c.107+35899G>T (n.107+35899G>T)
c.682G>T (p.Glu228Ter)
n.3279G>T
c.186G>T
c.661G>T (p.Glu221Ter)
c.*350G>T (n.*350G>T)
c.869G>T (n.869G>T)
c.739G>T (p.Glu247Ter)
c.328G>T (p.Glu110Ter)
 ClinVar dbSNP
5g.162104006A>CCA362185222GABRG2c.711A>C
c.869A>C (p.Glu290Ala)
n.640A>C
c.832A>C
c.464A>C (p.Glu155Ala)
c.749A>C (p.Glu250Ala)
n.811A>C
c.626A>C
c.140A>C (p.Glu47Ala)
c.677A>C (p.Glu226Ala)
c.107+35900A>C (n.107+35900A>C)
c.683A>C (p.Glu228Ala)
n.3280A>C
c.187A>C
c.662A>C (p.Glu221Ala)
c.*351A>C (n.*351A>C)
c.870A>C (n.870A>C)
c.740A>C (p.Glu247Ala)
c.329A>C (p.Glu110Ala)
5g.162104006A>GCA362185223GABRG2c.711A>G
c.869A>G (p.Glu290Gly)
n.640A>G
c.832A>G
c.464A>G (p.Glu155Gly)
c.749A>G (p.Glu250Gly)
n.811A>G
c.626A>G
c.140A>G (p.Glu47Gly)
c.677A>G (p.Glu226Gly)
c.107+35900A>G (n.107+35900A>G)
c.683A>G (p.Glu228Gly)
n.3280A>G
c.187A>G
c.662A>G (p.Glu221Gly)
c.*351A>G (n.*351A>G)
c.870A>G (n.870A>G)
c.740A>G (p.Glu247Gly)
c.329A>G (p.Glu110Gly)
5g.162104006A>TCA362185224GABRG2c.711A>T
c.869A>T (p.Glu290Val)
n.640A>T
c.832A>T
c.464A>T (p.Glu155Val)
c.749A>T (p.Glu250Val)
n.811A>T
c.626A>T
c.140A>T (p.Glu47Val)
c.677A>T (p.Glu226Val)
c.107+35900A>T (n.107+35900A>T)
c.683A>T (p.Glu228Val)
n.3280A>T
c.187A>T
c.662A>T (p.Glu221Val)
c.*351A>T (n.*351A>T)
c.870A>T (n.870A>T)
c.740A>T (p.Glu247Val)
c.329A>T (p.Glu110Val)
5g.162104007A>CCA362185225GABRG2c.712A>C
c.870A>C (p.Glu290Asp)
n.641A>C
c.833A>C
c.465A>C (p.Glu155Asp)
c.750A>C (p.Glu250Asp)
n.812A>C
c.627A>C
c.141A>C (p.Glu47Asp)
c.678A>C (p.Glu226Asp)
c.107+35901A>C (n.107+35901A>C)
c.684A>C (p.Glu228Asp)
n.3281A>C
c.188A>C
c.663A>C (p.Glu221Asp)
c.*352A>C (n.*352A>C)
c.871A>C (n.871A>C)
c.741A>C (p.Glu247Asp)
c.330A>C (p.Glu110Asp)
5g.162104007A>GCA447610025GABRG2c.712A>G
c.870A>G (p.Glu290=)
n.641A>G
c.833A>G
c.465A>G (p.Glu155=)
c.750A>G (p.Glu250=)
n.812A>G
c.627A>G
c.141A>G (p.Glu47=)
c.678A>G (p.Glu226=)
c.107+35901A>G (n.107+35901A>G)
c.684A>G (p.Glu228=)
n.3281A>G
c.188A>G
c.663A>G (p.Glu221=)
c.*352A>G (n.*352A>G)
c.871A>G (n.871A>G)
c.741A>G (p.Glu247=)
c.330A>G (p.Glu110=)
5g.162104007A>TCA362185226GABRG2c.712A>T
c.870A>T (p.Glu290Asp)
n.641A>T
c.833A>T
c.465A>T (p.Glu155Asp)
c.750A>T (p.Glu250Asp)
n.812A>T
c.627A>T
c.141A>T (p.Glu47Asp)
c.678A>T (p.Glu226Asp)
c.107+35901A>T (n.107+35901A>T)
c.684A>T (p.Glu228Asp)
n.3281A>T
c.188A>T
c.663A>T (p.Glu221Asp)
c.*352A>T (n.*352A>T)
c.871A>T (n.871A>T)
c.741A>T (p.Glu247Asp)
c.330A>T (p.Glu110Asp)
5g.162104008G>ACA362185227GABRG2c.713G>A
c.871G>A (p.Val291Ile)
n.642G>A
c.834G>A
c.466G>A (p.Val156Ile)
c.751G>A (p.Val251Ile)
n.813G>A
c.628G>A
c.142G>A (p.Val48Ile)
c.679G>A (p.Val227Ile)
c.107+35902G>A (n.107+35902G>A)
c.685G>A (p.Val229Ile)
n.3282G>A
c.189G>A
c.664G>A (p.Val222Ile)
c.*353G>A (n.*353G>A)
c.872G>A (n.872G>A)
c.742G>A (p.Val248Ile)
c.331G>A (p.Val111Ile)
5g.162104008G>CCA362185228GABRG2c.713G>C
c.871G>C (p.Val291Leu)
n.642G>C
c.834G>C
c.466G>C (p.Val156Leu)
c.751G>C (p.Val251Leu)
n.813G>C
c.628G>C
c.142G>C (p.Val48Leu)
c.679G>C (p.Val227Leu)
c.107+35902G>C (n.107+35902G>C)
c.685G>C (p.Val229Leu)
n.3282G>C
c.189G>C
c.664G>C (p.Val222Leu)
c.*353G>C (n.*353G>C)
c.872G>C (n.872G>C)
c.742G>C (p.Val248Leu)
c.331G>C (p.Val111Leu)
5g.162104008G=CA1596365238GABRG2c.713G=
c.871G= (p.Val291=)
n.642G=
c.834G=
c.466G= (p.Val156=)
c.751G= (p.Val251=)
n.813G=
c.628G=
c.142G= (p.Val48=)
c.679G= (p.Val227=)
c.107+35902G= (n.107+35902G=)
c.685G= (p.Val229=)
n.3282G=
c.189G=
c.664G= (p.Val222=)
c.*353G= (n.*353G=)
c.872G= (n.872G=)
c.742G= (p.Val248=)
c.331G= (p.Val111=)
5g.162104008G>TCA362185229GABRG2c.713G>T
c.871G>T (p.Val291Leu)
n.642G>T
c.834G>T
c.466G>T (p.Val156Leu)
c.751G>T (p.Val251Leu)
n.813G>T
c.628G>T
c.142G>T (p.Val48Leu)
c.679G>T (p.Val227Leu)
c.107+35902G>T (n.107+35902G>T)
c.685G>T (p.Val229Leu)
n.3282G>T
c.189G>T
c.664G>T (p.Val222Leu)
c.*353G>T (n.*353G>T)
c.872G>T (n.872G>T)
c.742G>T (p.Val248Leu)
c.331G>T (p.Val111Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.162104009T>ACA362185230GABRG2c.714T>A
c.872T>A (p.Val291Glu)
n.643T>A
c.835T>A
c.467T>A (p.Val156Glu)
c.752T>A (p.Val251Glu)
n.814T>A
c.629T>A
c.143T>A (p.Val48Glu)
c.680T>A (p.Val227Glu)
c.107+35903T>A (n.107+35903T>A)
c.686T>A (p.Val229Glu)
n.3283T>A
c.190T>A
c.665T>A (p.Val222Glu)
c.*354T>A (n.*354T>A)
c.873T>A (n.873T>A)
c.743T>A (p.Val248Glu)
c.332T>A (p.Val111Glu)
5g.162104009T>CCA362185231GABRG2c.714T>C
c.872T>C (p.Val291Ala)
n.643T>C
c.835T>C
c.467T>C (p.Val156Ala)
c.752T>C (p.Val251Ala)
n.814T>C
c.629T>C
c.143T>C (p.Val48Ala)
c.680T>C (p.Val227Ala)
c.107+35903T>C (n.107+35903T>C)
c.686T>C (p.Val229Ala)
n.3283T>C
c.190T>C
c.665T>C (p.Val222Ala)
c.*354T>C (n.*354T>C)
c.873T>C (n.873T>C)
c.743T>C (p.Val248Ala)
c.332T>C (p.Val111Ala)
5g.162104009T>GCA362185232GABRG2c.714T>G
c.872T>G (p.Val291Gly)
n.643T>G
c.835T>G
c.467T>G (p.Val156Gly)
c.752T>G (p.Val251Gly)
n.814T>G
c.629T>G
c.143T>G (p.Val48Gly)
c.680T>G (p.Val227Gly)
c.107+35903T>G (n.107+35903T>G)
c.686T>G (p.Val229Gly)
n.3283T>G
c.190T>G
c.665T>G (p.Val222Gly)
c.*354T>G (n.*354T>G)
c.873T>G (n.873T>G)
c.743T>G (p.Val248Gly)
c.332T>G (p.Val111Gly)
5g.162104010A=CA1596365239GABRG2c.715A=
c.873A= (p.Val291=)
n.644A=
c.836A=
c.468A= (p.Val156=)
c.753A= (p.Val251=)
n.815A=
c.630A=
c.144A= (p.Val48=)
c.681A= (p.Val227=)
c.107+35904A= (n.107+35904A=)
c.687A= (p.Val229=)
n.3284A=
c.191A=
c.666A= (p.Val222=)
c.*355A= (n.*355A=)
c.874A= (n.874A=)
c.744A= (p.Val248=)
c.333A= (p.Val111=)
5g.162104010A>CCA3544806GABRG2c.715A>C
c.873A>C (p.Val291=)
n.644A>C
c.836A>C
c.468A>C (p.Val156=)
c.753A>C (p.Val251=)
n.815A>C
c.630A>C
c.144A>C (p.Val48=)
c.681A>C (p.Val227=)
c.107+35904A>C (n.107+35904A>C)
c.687A>C (p.Val229=)
n.3284A>C
c.191A>C
c.666A>C (p.Val222=)
c.*355A>C (n.*355A>C)
c.874A>C (n.874A>C)
c.744A>C (p.Val248=)
c.333A>C (p.Val111=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.162104010A>GCA447610027GABRG2c.715A>G
c.873A>G (p.Val291=)
n.644A>G
c.836A>G
c.468A>G (p.Val156=)
c.753A>G (p.Val251=)
n.815A>G
c.630A>G
c.144A>G (p.Val48=)
c.681A>G (p.Val227=)
c.107+35904A>G (n.107+35904A>G)
c.687A>G (p.Val229=)
n.3284A>G
c.191A>G
c.666A>G (p.Val222=)
c.*355A>G (n.*355A>G)
c.874A>G (n.874A>G)
c.744A>G (p.Val248=)
c.333A>G (p.Val111=)
5g.162104010A>TCA447610028GABRG2c.715A>T
c.873A>T (p.Val291=)
n.644A>T
c.836A>T
c.468A>T (p.Val156=)
c.753A>T (p.Val251=)
n.815A>T
c.630A>T
c.144A>T (p.Val48=)
c.681A>T (p.Val227=)
c.107+35904A>T (n.107+35904A>T)
c.687A>T (p.Val229=)
n.3284A>T
c.191A>T
c.666A>T (p.Val222=)
c.*355A>T (n.*355A>T)
c.874A>T (n.874A>T)
c.744A>T (p.Val248=)
c.333A>T (p.Val111=)
5g.162104011G>ACA362185233GABRG2c.716G>A
c.874G>A (p.Val292Met)
n.645G>A
c.837G>A
c.469G>A (p.Val157Met)
c.754G>A (p.Val252Met)
n.816G>A
c.631G>A
c.145G>A (p.Val49Met)
c.682G>A (p.Val228Met)
c.107+35905G>A (n.107+35905G>A)
c.688G>A (p.Val230Met)
n.3285G>A
c.192G>A
c.667G>A (p.Val223Met)
c.*356G>A (n.*356G>A)
c.875G>A (n.875G>A)
c.745G>A (p.Val249Met)
c.334G>A (p.Val112Met)
5g.162104011G>CCA362185235GABRG2c.716G>C
c.874G>C (p.Val292Leu)
n.645G>C
c.837G>C
c.469G>C (p.Val157Leu)
c.754G>C (p.Val252Leu)
n.816G>C
c.631G>C
c.145G>C (p.Val49Leu)
c.682G>C (p.Val228Leu)
c.107+35905G>C (n.107+35905G>C)
c.688G>C (p.Val230Leu)
n.3285G>C
c.192G>C
c.667G>C (p.Val223Leu)
c.*356G>C (n.*356G>C)
c.875G>C (n.875G>C)
c.745G>C (p.Val249Leu)
c.334G>C (p.Val112Leu)
5g.162104011G>TCA362185234GABRG2c.716G>T
c.874G>T (p.Val292Leu)
n.645G>T
c.837G>T
c.469G>T (p.Val157Leu)
c.754G>T (p.Val252Leu)
n.816G>T
c.631G>T
c.145G>T (p.Val49Leu)
c.682G>T (p.Val228Leu)
c.107+35905G>T (n.107+35905G>T)
c.688G>T (p.Val230Leu)
n.3285G>T
c.192G>T
c.667G>T (p.Val223Leu)
c.*356G>T (n.*356G>T)
c.875G>T (n.875G>T)
c.745G>T (p.Val249Leu)
c.334G>T (p.Val112Leu)
 COSMIC
5g.162104012T>ACA362185236GABRG2c.717T>A
c.875T>A (p.Val292Glu)
n.646T>A
c.838T>A
c.470T>A (p.Val157Glu)
c.755T>A (p.Val252Glu)
n.817T>A
c.632T>A
c.146T>A (p.Val49Glu)
c.683T>A (p.Val228Glu)
c.107+35906T>A (n.107+35906T>A)
c.689T>A (p.Val230Glu)
n.3286T>A
c.193T>A
c.668T>A (p.Val223Glu)
c.*357T>A (n.*357T>A)
c.876T>A (n.876T>A)
c.746T>A (p.Val249Glu)
c.335T>A (p.Val112Glu)
5g.162104012T>CCA362185238GABRG2c.717T>C
c.875T>C (p.Val292Ala)
n.646T>C
c.838T>C
c.470T>C (p.Val157Ala)
c.755T>C (p.Val252Ala)
n.817T>C
c.632T>C
c.146T>C (p.Val49Ala)
c.683T>C (p.Val228Ala)
c.107+35906T>C (n.107+35906T>C)
c.689T>C (p.Val230Ala)
n.3286T>C
c.193T>C
c.668T>C (p.Val223Ala)
c.*357T>C (n.*357T>C)
c.876T>C (n.876T>C)
c.746T>C (p.Val249Ala)
c.335T>C (p.Val112Ala)
5g.162104012T>GCA362185237GABRG2c.717T>G
c.875T>G (p.Val292Gly)
n.646T>G
c.838T>G
c.470T>G (p.Val157Gly)
c.755T>G (p.Val252Gly)
n.817T>G
c.632T>G
c.146T>G (p.Val49Gly)
c.683T>G (p.Val228Gly)
c.107+35906T>G (n.107+35906T>G)
c.689T>G (p.Val230Gly)
n.3286T>G
c.193T>G
c.668T>G (p.Val223Gly)
c.*357T>G (n.*357T>G)
c.876T>G (n.876T>G)
c.746T>G (p.Val249Gly)
c.335T>G (p.Val112Gly)
5g.162104013G>ACA447610029GABRG2c.718G>A
c.876G>A (p.Val292=)
n.647G>A
c.839G>A
c.471G>A (p.Val157=)
c.756G>A (p.Val252=)
n.818G>A
c.633G>A
c.147G>A (p.Val49=)
c.684G>A (p.Val228=)
c.107+35907G>A (n.107+35907G>A)
c.690G>A (p.Val230=)
n.3287G>A
c.194G>A
c.669G>A (p.Val223=)
c.*358G>A (n.*358G>A)
c.877G>A (n.877G>A)
c.747G>A (p.Val249=)
c.336G>A (p.Val112=)
5g.162104013G>CCA447610030GABRG2c.718G>C
c.876G>C (p.Val292=)
n.647G>C
c.839G>C
c.471G>C (p.Val157=)
c.756G>C (p.Val252=)
n.818G>C
c.633G>C
c.147G>C (p.Val49=)
c.684G>C (p.Val228=)
c.107+35907G>C (n.107+35907G>C)
c.690G>C (p.Val230=)
n.3287G>C
c.194G>C
c.669G>C (p.Val223=)
c.*358G>C (n.*358G>C)
c.877G>C (n.877G>C)
c.747G>C (p.Val249=)
c.336G>C (p.Val112=)
5g.162104013G>TCA447610031GABRG2c.718G>T
c.876G>T (p.Val292=)
n.647G>T
c.839G>T
c.471G>T (p.Val157=)
c.756G>T (p.Val252=)
n.818G>T
c.633G>T
c.147G>T (p.Val49=)
c.684G>T (p.Val228=)
c.107+35907G>T (n.107+35907G>T)
c.690G>T (p.Val230=)
n.3287G>T
c.194G>T
c.669G>T (p.Val223=)
c.*358G>T (n.*358G>T)
c.877G>T (n.877G>T)
c.747G>T (p.Val249=)
c.336G>T (p.Val112=)
5g.162104014A>CCA362185239GABRG2c.719A>C
c.877A>C (p.Lys293Gln)
n.648A>C
c.840A>C
c.472A>C (p.Lys158Gln)
c.757A>C (p.Lys253Gln)
n.819A>C
c.634A>C
c.148A>C (p.Lys50Gln)
c.685A>C (p.Lys229Gln)
c.107+35908A>C (n.107+35908A>C)
c.691A>C (p.Lys231Gln)
n.3288A>C
c.195A>C
c.670A>C (p.Lys224Gln)
c.*359A>C (n.*359A>C)
c.878A>C (n.878A>C)
c.748A>C (p.Lys250Gln)
c.337A>C (p.Lys113Gln)
5g.162104014A>GCA362185240GABRG2c.719A>G
c.877A>G (p.Lys293Glu)
n.648A>G
c.840A>G
c.472A>G (p.Lys158Glu)
c.757A>G (p.Lys253Glu)
n.819A>G
c.634A>G
c.148A>G (p.Lys50Glu)
c.685A>G (p.Lys229Glu)
c.107+35908A>G (n.107+35908A>G)
c.691A>G (p.Lys231Glu)
n.3288A>G
c.195A>G
c.670A>G (p.Lys224Glu)
c.*359A>G (n.*359A>G)
c.878A>G (n.878A>G)
c.748A>G (p.Lys250Glu)
c.337A>G (p.Lys113Glu)
5g.162104014A>TCA362185241GABRG2c.719A>T
c.877A>T (p.Lys293Ter)
n.648A>T
c.840A>T
c.472A>T (p.Lys158Ter)
c.757A>T (p.Lys253Ter)
n.819A>T
c.634A>T
c.148A>T (p.Lys50Ter)
c.685A>T (p.Lys229Ter)
c.107+35908A>T (n.107+35908A>T)
c.691A>T (p.Lys231Ter)
n.3288A>T
c.195A>T
c.670A>T (p.Lys224Ter)
c.*359A>T (n.*359A>T)
c.878A>T (n.878A>T)
c.748A>T (p.Lys250Ter)
c.337A>T (p.Lys113Ter)
5g.162104015A>CCA362185242GABRG2c.720A>C
c.878A>C (p.Lys293Thr)
n.649A>C
c.841A>C
c.473A>C (p.Lys158Thr)
c.758A>C (p.Lys253Thr)
n.820A>C
c.635A>C
c.149A>C (p.Lys50Thr)
c.686A>C (p.Lys229Thr)
c.107+35909A>C (n.107+35909A>C)
c.692A>C (p.Lys231Thr)
n.3289A>C
c.196A>C
c.671A>C (p.Lys224Thr)
c.*360A>C (n.*360A>C)
c.879A>C (n.879A>C)
c.749A>C (p.Lys250Thr)
c.338A>C (p.Lys113Thr)
5g.162104015A>GCA362185243GABRG2c.720A>G
c.878A>G (p.Lys293Arg)
n.649A>G
c.841A>G
c.473A>G (p.Lys158Arg)
c.758A>G (p.Lys253Arg)
n.820A>G
c.635A>G
c.149A>G (p.Lys50Arg)
c.686A>G (p.Lys229Arg)
c.107+35909A>G (n.107+35909A>G)
c.692A>G (p.Lys231Arg)
n.3289A>G
c.196A>G
c.671A>G (p.Lys224Arg)
c.*360A>G (n.*360A>G)
c.879A>G (n.879A>G)
c.749A>G (p.Lys250Arg)
c.338A>G (p.Lys113Arg)
5g.162104015A>TCA362185244GABRG2c.720A>T
c.878A>T (p.Lys293Met)
n.649A>T
c.841A>T
c.473A>T (p.Lys158Met)
c.758A>T (p.Lys253Met)
n.820A>T
c.635A>T
c.149A>T (p.Lys50Met)
c.686A>T (p.Lys229Met)
c.107+35909A>T (n.107+35909A>T)
c.692A>T (p.Lys231Met)
n.3289A>T
c.196A>T
c.671A>T (p.Lys224Met)
c.*360A>T (n.*360A>T)
c.879A>T (n.879A>T)
c.749A>T (p.Lys250Met)
c.338A>T (p.Lys113Met)
5g.162104016G>ACA3544807GABRG2c.721G>A
c.879G>A (p.Lys293=)
n.650G>A
c.842G>A
c.474G>A (p.Lys158=)
c.759G>A (p.Lys253=)
n.821G>A
c.636G>A
c.150G>A (p.Lys50=)
c.687G>A (p.Lys229=)
c.107+35910G>A (n.107+35910G>A)
c.693G>A (p.Lys231=)
n.3290G>A
c.197G>A
c.672G>A (p.Lys224=)
c.*361G>A (n.*361G>A)
c.880G>A (n.880G>A)
c.750G>A (p.Lys250=)
c.339G>A (p.Lys113=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.162104016G>CCA362185245GABRG2c.721G>C
c.879G>C (p.Lys293Asn)
n.650G>C
c.842G>C
c.474G>C (p.Lys158Asn)
c.759G>C (p.Lys253Asn)
n.821G>C
c.636G>C
c.150G>C (p.Lys50Asn)
c.687G>C (p.Lys229Asn)
c.107+35910G>C (n.107+35910G>C)
c.693G>C (p.Lys231Asn)
n.3290G>C
c.197G>C
c.672G>C (p.Lys224Asn)
c.*361G>C (n.*361G>C)
c.880G>C (n.880G>C)
c.750G>C (p.Lys250Asn)
c.339G>C (p.Lys113Asn)
5g.162104016G=CA1596365240GABRG2c.721G=
c.879G= (p.Lys293=)
n.650G=
c.842G=
c.474G= (p.Lys158=)
c.759G= (p.Lys253=)
n.821G=
c.636G=
c.150G= (p.Lys50=)
c.687G= (p.Lys229=)
c.107+35910G= (n.107+35910G=)
c.693G= (p.Lys231=)
n.3290G=
c.197G=
c.672G= (p.Lys224=)
c.*361G= (n.*361G=)
c.880G= (n.880G=)
c.750G= (p.Lys250=)
c.339G= (p.Lys113=)
5g.162104016G>TCA362185246GABRG2c.721G>T
c.879G>T (p.Lys293Asn)
n.650G>T
c.842G>T
c.474G>T (p.Lys158Asn)
c.759G>T (p.Lys253Asn)
n.821G>T
c.636G>T
c.150G>T (p.Lys50Asn)
c.687G>T (p.Lys229Asn)
c.107+35910G>T (n.107+35910G>T)
c.693G>T (p.Lys231Asn)
n.3290G>T
c.197G>T
c.672G>T (p.Lys224Asn)
c.*361G>T (n.*361G>T)
c.880G>T (n.880G>T)
c.750G>T (p.Lys250Asn)
c.339G>T (p.Lys113Asn)
5g.162104017A>CCA362185247GABRG2c.722A>C
c.880A>C (p.Thr294Pro)
n.651A>C
c.843A>C
c.475A>C (p.Thr159Pro)
c.760A>C (p.Thr254Pro)
n.822A>C
c.637A>C
c.151A>C (p.Thr51Pro)
c.688A>C (p.Thr230Pro)
c.107+35911A>C (n.107+35911A>C)
c.694A>C (p.Thr232Pro)
n.3291A>C
c.198A>C
c.673A>C (p.Thr225Pro)
c.*362A>C (n.*362A>C)
c.881A>C (n.881A>C)
c.751A>C (p.Thr251Pro)
c.340A>C (p.Thr114Pro)
 COSMIC
5g.162104017A>GCA362185248GABRG2c.722A>G
c.880A>G (p.Thr294Ala)
n.651A>G
c.843A>G
c.475A>G (p.Thr159Ala)
c.760A>G (p.Thr254Ala)
n.822A>G
c.637A>G
c.151A>G (p.Thr51Ala)
c.688A>G (p.Thr230Ala)
c.107+35911A>G (n.107+35911A>G)
c.694A>G (p.Thr232Ala)
n.3291A>G
c.198A>G
c.673A>G (p.Thr225Ala)
c.*362A>G (n.*362A>G)
c.881A>G (n.881A>G)
c.751A>G (p.Thr251Ala)
c.340A>G (p.Thr114Ala)
5g.162104017A>TCA362185249GABRG2c.722A>T
c.880A>T (p.Thr294Ser)
n.651A>T
c.843A>T
c.475A>T (p.Thr159Ser)
c.760A>T (p.Thr254Ser)
n.822A>T
c.637A>T
c.151A>T (p.Thr51Ser)
c.688A>T (p.Thr230Ser)
c.107+35911A>T (n.107+35911A>T)
c.694A>T (p.Thr232Ser)
n.3291A>T
c.198A>T
c.673A>T (p.Thr225Ser)
c.*362A>T (n.*362A>T)
c.881A>T (n.881A>T)
c.751A>T (p.Thr251Ser)
c.340A>T (p.Thr114Ser)
5g.162104018C>ACA362185250GABRG2c.723C>A
c.881C>A (p.Thr294Lys)
n.652C>A
c.844C>A
c.476C>A (p.Thr159Lys)
c.761C>A (p.Thr254Lys)
n.823C>A
c.638C>A
c.152C>A (p.Thr51Lys)
c.689C>A (p.Thr230Lys)
c.107+35912C>A (n.107+35912C>A)
c.695C>A (p.Thr232Lys)
n.3292C>A
c.199C>A
c.674C>A (p.Thr225Lys)
c.*363C>A (n.*363C>A)
c.882C>A (n.882C>A)
c.752C>A (p.Thr251Lys)
c.341C>A (p.Thr114Lys)
5g.162104018C=CA1596365241GABRG2c.723C=
c.881C= (p.Thr294=)
n.652C=
c.844C=
c.476C= (p.Thr159=)
c.761C= (p.Thr254=)
n.823C=
c.638C=
c.152C= (p.Thr51=)
c.689C= (p.Thr230=)
c.107+35912C= (n.107+35912C=)
c.695C= (p.Thr232=)
n.3292C=
c.199C=
c.674C= (p.Thr225=)
c.*363C= (n.*363C=)
c.882C= (n.882C=)
c.752C= (p.Thr251=)
c.341C= (p.Thr114=)
5g.162104018C>GCA362185252GABRG2c.723C>G
c.881C>G (p.Thr294Arg)
n.652C>G
c.844C>G
c.476C>G (p.Thr159Arg)
c.761C>G (p.Thr254Arg)
n.823C>G
c.638C>G
c.152C>G (p.Thr51Arg)
c.689C>G (p.Thr230Arg)
c.107+35912C>G (n.107+35912C>G)
c.695C>G (p.Thr232Arg)
n.3292C>G
c.199C>G
c.674C>G (p.Thr225Arg)
c.*363C>G (n.*363C>G)
c.882C>G (n.882C>G)
c.752C>G (p.Thr251Arg)
c.341C>G (p.Thr114Arg)
5g.162104018C>TCA362185251GABRG2c.723C>T
c.881C>T (p.Thr294Ile)
n.652C>T
c.844C>T
c.476C>T (p.Thr159Ile)
c.761C>T (p.Thr254Ile)
n.823C>T
c.638C>T
c.152C>T (p.Thr51Ile)
c.689C>T (p.Thr230Ile)
c.107+35912C>T (n.107+35912C>T)
c.695C>T (p.Thr232Ile)
n.3292C>T
c.199C>T
c.674C>T (p.Thr225Ile)
c.*363C>T (n.*363C>T)
c.882C>T (n.882C>T)
c.752C>T (p.Thr251Ile)
c.341C>T (p.Thr114Ile)
 ClinVar dbSNP
5g.162104019A>CCA447610035GABRG2c.724A>C
c.882A>C (p.Thr294=)
n.653A>C
c.845A>C
c.477A>C (p.Thr159=)
c.762A>C (p.Thr254=)
n.824A>C
c.639A>C
c.153A>C (p.Thr51=)
c.690A>C (p.Thr230=)
c.107+35913A>C (n.107+35913A>C)
c.696A>C (p.Thr232=)
n.3293A>C
c.200A>C
c.675A>C (p.Thr225=)
c.*364A>C (n.*364A>C)
c.883A>C (n.883A>C)
c.753A>C (p.Thr251=)
c.342A>C (p.Thr114=)
5g.162104019A>GCA447610034GABRG2c.724A>G
c.882A>G (p.Thr294=)
n.653A>G
c.845A>G
c.477A>G (p.Thr159=)
c.762A>G (p.Thr254=)
n.824A>G
c.639A>G
c.153A>G (p.Thr51=)
c.690A>G (p.Thr230=)
c.107+35913A>G (n.107+35913A>G)
c.696A>G (p.Thr232=)
n.3293A>G
c.200A>G
c.675A>G (p.Thr225=)
c.*364A>G (n.*364A>G)
c.883A>G (n.883A>G)
c.753A>G (p.Thr251=)
c.342A>G (p.Thr114=)
 ClinVar
5g.162104019A>TCA447610033GABRG2c.724A>T
c.882A>T (p.Thr294=)
n.653A>T
c.845A>T
c.477A>T (p.Thr159=)
c.762A>T (p.Thr254=)
n.824A>T
c.639A>T
c.153A>T (p.Thr51=)
c.690A>T (p.Thr230=)
c.107+35913A>T (n.107+35913A>T)
c.696A>T (p.Thr232=)
n.3293A>T
c.200A>T
c.675A>T (p.Thr225=)
c.*364A>T (n.*364A>T)
c.883A>T (n.883A>T)
c.753A>T (p.Thr251=)
c.342A>T (p.Thr114=)
5g.162104020A>CCA362185253GABRG2c.725A>C
c.883A>C (p.Thr295Pro)
n.654A>C
c.846A>C
c.478A>C (p.Thr160Pro)
c.763A>C (p.Thr255Pro)
n.825A>C
c.640A>C
c.154A>C (p.Thr52Pro)
c.691A>C (p.Thr231Pro)
c.107+35914A>C (n.107+35914A>C)
c.697A>C (p.Thr233Pro)
n.3294A>C
c.201A>C
c.676A>C (p.Thr226Pro)
c.*365A>C (n.*365A>C)
c.884A>C (n.884A>C)
c.754A>C (p.Thr252Pro)
c.343A>C (p.Thr115Pro)
5g.162104020A>GCA362185254GABRG2c.725A>G
c.883A>G (p.Thr295Ala)
n.654A>G
c.846A>G
c.478A>G (p.Thr160Ala)
c.763A>G (p.Thr255Ala)
n.825A>G
c.640A>G
c.154A>G (p.Thr52Ala)
c.691A>G (p.Thr231Ala)
c.107+35914A>G (n.107+35914A>G)
c.697A>G (p.Thr233Ala)
n.3294A>G
c.201A>G
c.676A>G (p.Thr226Ala)
c.*365A>G (n.*365A>G)
c.884A>G (n.884A>G)
c.754A>G (p.Thr252Ala)
c.343A>G (p.Thr115Ala)
5g.162104020A>TCA362185255GABRG2c.725A>T
c.883A>T (p.Thr295Ser)
n.654A>T
c.846A>T
c.478A>T (p.Thr160Ser)
c.763A>T (p.Thr255Ser)
n.825A>T
c.640A>T
c.154A>T (p.Thr52Ser)
c.691A>T (p.Thr231Ser)
c.107+35914A>T (n.107+35914A>T)
c.697A>T (p.Thr233Ser)
n.3294A>T
c.201A>T
c.676A>T (p.Thr226Ser)
c.*365A>T (n.*365A>T)
c.884A>T (n.884A>T)
c.754A>T (p.Thr252Ser)
c.343A>T (p.Thr115Ser)
5g.162104021C>ACA362185256GABRG2c.726C>A
c.884C>A (p.Thr295Asn)
n.655C>A
c.847C>A
c.479C>A (p.Thr160Asn)
c.764C>A (p.Thr255Asn)
n.826C>A
c.641C>A
c.155C>A (p.Thr52Asn)
c.692C>A (p.Thr231Asn)
c.107+35915C>A (n.107+35915C>A)
c.698C>A (p.Thr233Asn)
n.3295C>A
c.202C>A
c.677C>A (p.Thr226Asn)
c.*366C>A (n.*366C>A)
c.885C>A (n.885C>A)
c.755C>A (p.Thr252Asn)
c.344C>A (p.Thr115Asn)
5g.162104021C=CA1596365242GABRG2c.726C=
c.884C= (p.Thr295=)
n.655C=
c.847C=
c.479C= (p.Thr160=)
c.764C= (p.Thr255=)
n.826C=
c.641C=
c.155C= (p.Thr52=)
c.692C= (p.Thr231=)
c.107+35915C= (n.107+35915C=)
c.698C= (p.Thr233=)
n.3295C=
c.202C=
c.677C= (p.Thr226=)
c.*366C= (n.*366C=)
c.885C= (n.885C=)
c.755C= (p.Thr252=)
c.344C= (p.Thr115=)
5g.162104021C>GCA362185257GABRG2c.726C>G
c.884C>G (p.Thr295Ser)
n.655C>G
c.847C>G
c.479C>G (p.Thr160Ser)
c.764C>G (p.Thr255Ser)
n.826C>G
c.641C>G
c.155C>G (p.Thr52Ser)
c.692C>G (p.Thr231Ser)
c.107+35915C>G (n.107+35915C>G)
c.698C>G (p.Thr233Ser)
n.3295C>G
c.202C>G
c.677C>G (p.Thr226Ser)
c.*366C>G (n.*366C>G)
c.885C>G (n.885C>G)
c.755C>G (p.Thr252Ser)
c.344C>G (p.Thr115Ser)
5g.162104021C>TCA362185258GABRG2c.726C>T
c.884C>T (p.Thr295Ile)
n.655C>T
c.847C>T
c.479C>T (p.Thr160Ile)
c.764C>T (p.Thr255Ile)
n.826C>T
c.641C>T
c.155C>T (p.Thr52Ile)
c.692C>T (p.Thr231Ile)
c.107+35915C>T (n.107+35915C>T)
c.698C>T (p.Thr233Ile)
n.3295C>T
c.202C>T
c.677C>T (p.Thr226Ile)
c.*366C>T (n.*366C>T)
c.885C>T (n.885C>T)
c.755C>T (p.Thr252Ile)
c.344C>T (p.Thr115Ile)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.162104022T>ACA447610036GABRG2c.727T>A
c.885T>A (p.Thr295=)
n.656T>A
c.848T>A
c.480T>A (p.Thr160=)
c.765T>A (p.Thr255=)
n.827T>A
c.642T>A
c.156T>A (p.Thr52=)
c.693T>A (p.Thr231=)
c.107+35916T>A (n.107+35916T>A)
c.699T>A (p.Thr233=)
n.3296T>A
c.203T>A
c.678T>A (p.Thr226=)
c.*367T>A (n.*367T>A)
c.886T>A (n.886T>A)
c.756T>A (p.Thr252=)
c.345T>A (p.Thr115=)
 gnomAD v4
5g.162104022T>CCA447610037GABRG2c.727T>C
c.885T>C (p.Thr295=)
n.656T>C
c.848T>C
c.480T>C (p.Thr160=)
c.765T>C (p.Thr255=)
n.827T>C
c.642T>C
c.156T>C (p.Thr52=)
c.693T>C (p.Thr231=)
c.107+35916T>C (n.107+35916T>C)
c.699T>C (p.Thr233=)
n.3296T>C
c.203T>C
c.678T>C (p.Thr226=)
c.*367T>C (n.*367T>C)
c.886T>C (n.886T>C)
c.756T>C (p.Thr252=)
c.345T>C (p.Thr115=)
5g.162104022T>GCA447610038GABRG2c.727T>G
c.885T>G (p.Thr295=)
n.656T>G
c.848T>G
c.480T>G (p.Thr160=)
c.765T>G (p.Thr255=)
n.827T>G
c.642T>G
c.156T>G (p.Thr52=)
c.693T>G (p.Thr231=)
c.107+35916T>G (n.107+35916T>G)
c.699T>G (p.Thr233=)
n.3296T>G
c.203T>G
c.678T>G (p.Thr226=)
c.*367T>G (n.*367T>G)
c.886T>G (n.886T>G)
c.756T>G (p.Thr252=)
c.345T>G (p.Thr115=)
 ClinVar dbSNP COSMIC
5g.162104023T>ACA362185259GABRG2c.728T>A
c.886T>A (p.Ser296Thr)
n.657T>A
c.849T>A
c.481T>A (p.Ser161Thr)
c.766T>A (p.Ser256Thr)
n.828T>A
c.643T>A
c.157T>A (p.Ser53Thr)
c.694T>A (p.Ser232Thr)
c.107+35917T>A (n.107+35917T>A)
c.700T>A (p.Ser234Thr)
n.3297T>A
c.204T>A
c.679T>A (p.Ser227Thr)
c.*368T>A (n.*368T>A)
c.887T>A (n.887T>A)
c.757T>A (p.Ser253Thr)
c.346T>A (p.Ser116Thr)
5g.162104023T>CCA362185260GABRG2c.728T>C
c.886T>C (p.Ser296Pro)
n.657T>C
c.849T>C
c.481T>C (p.Ser161Pro)
c.766T>C (p.Ser256Pro)
n.828T>C
c.643T>C
c.157T>C (p.Ser53Pro)
c.694T>C (p.Ser232Pro)
c.107+35917T>C (n.107+35917T>C)
c.700T>C (p.Ser234Pro)
n.3297T>C
c.204T>C
c.679T>C (p.Ser227Pro)
c.*368T>C (n.*368T>C)
c.887T>C (n.887T>C)
c.757T>C (p.Ser253Pro)
c.346T>C (p.Ser116Pro)
5g.162104023T>GCA362185261GABRG2c.728T>G
c.886T>G (p.Ser296Ala)
n.657T>G
c.849T>G
c.481T>G (p.Ser161Ala)
c.766T>G (p.Ser256Ala)
n.828T>G
c.643T>G
c.157T>G (p.Ser53Ala)
c.694T>G (p.Ser232Ala)
c.107+35917T>G (n.107+35917T>G)
c.700T>G (p.Ser234Ala)
n.3297T>G
c.204T>G
c.679T>G (p.Ser227Ala)
c.*368T>G (n.*368T>G)
c.887T>G (n.887T>G)
c.757T>G (p.Ser253Ala)
c.346T>G (p.Ser116Ala)
5g.162104024C>ACA362185263GABRG2c.729C>A
c.887C>A (p.Ser296Tyr)
n.658C>A
c.850C>A
c.482C>A (p.Ser161Tyr)
c.767C>A (p.Ser256Tyr)
n.829C>A
c.644C>A
c.158C>A (p.Ser53Tyr)
c.695C>A (p.Ser232Tyr)
c.107+35918C>A (n.107+35918C>A)
c.701C>A (p.Ser234Tyr)
n.3298C>A
c.205C>A
c.680C>A (p.Ser227Tyr)
c.*369C>A (n.*369C>A)
c.888C>A (n.888C>A)
c.758C>A (p.Ser253Tyr)
c.347C>A (p.Ser116Tyr)
5g.162104024C>GCA362185264GABRG2c.729C>G
c.887C>G (p.Ser296Cys)
n.658C>G
c.850C>G
c.482C>G (p.Ser161Cys)
c.767C>G (p.Ser256Cys)
n.829C>G
c.644C>G
c.158C>G (p.Ser53Cys)
c.695C>G (p.Ser232Cys)
c.107+35918C>G (n.107+35918C>G)
c.701C>G (p.Ser234Cys)
n.3298C>G
c.205C>G
c.680C>G (p.Ser227Cys)
c.*369C>G (n.*369C>G)
c.888C>G (n.888C>G)
c.758C>G (p.Ser253Cys)
c.347C>G (p.Ser116Cys)
5g.162104024C>TCA362185262GABRG2c.729C>T
c.887C>T (p.Ser296Phe)
n.658C>T
c.850C>T
c.482C>T (p.Ser161Phe)
c.767C>T (p.Ser256Phe)
n.829C>T
c.644C>T
c.158C>T (p.Ser53Phe)
c.695C>T (p.Ser232Phe)
c.107+35918C>T (n.107+35918C>T)
c.701C>T (p.Ser234Phe)
n.3298C>T
c.205C>T
c.680C>T (p.Ser227Phe)
c.*369C>T (n.*369C>T)
c.888C>T (n.888C>T)
c.758C>T (p.Ser253Phe)
c.347C>T (p.Ser116Phe)
5g.162104025C>ACA447610039GABRG2c.730C>A
c.888C>A (p.Ser296=)
n.659C>A
c.851C>A
c.483C>A (p.Ser161=)
c.768C>A (p.Ser256=)
n.830C>A
c.645C>A
c.159C>A (p.Ser53=)
c.696C>A (p.Ser232=)
c.107+35919C>A (n.107+35919C>A)
c.702C>A (p.Ser234=)
n.3299C>A
c.206C>A
c.681C>A (p.Ser227=)
c.*370C>A (n.*370C>A)
c.889C>A (n.889C>A)
c.759C>A (p.Ser253=)
c.348C>A (p.Ser116=)
 COSMIC
5g.162104025C=CA1596365243GABRG2c.730C=
c.888C= (p.Ser296=)
n.659C=
c.851C=
c.483C= (p.Ser161=)
c.768C= (p.Ser256=)
n.830C=
c.645C=
c.159C= (p.Ser53=)
c.696C= (p.Ser232=)
c.107+35919C= (n.107+35919C=)
c.702C= (p.Ser234=)
n.3299C=
c.206C=
c.681C= (p.Ser227=)
c.*370C= (n.*370C=)
c.889C= (n.889C=)
c.759C= (p.Ser253=)
c.348C= (p.Ser116=)
5g.162104025C>GCA131112334GABRG2c.730C>G
c.888C>G (p.Ser296=)
n.659C>G
c.851C>G
c.483C>G (p.Ser161=)
c.768C>G (p.Ser256=)
n.830C>G
c.645C>G
c.159C>G (p.Ser53=)
c.696C>G (p.Ser232=)
c.107+35919C>G (n.107+35919C>G)
c.702C>G (p.Ser234=)
n.3299C>G
c.206C>G
c.681C>G (p.Ser227=)
c.*370C>G (n.*370C>G)
c.889C>G (n.889C>G)
c.759C>G (p.Ser253=)
c.348C>G (p.Ser116=)
 dbSNP
5g.162104025C>TCA291001GABRG2c.730C>T
c.888C>T (p.Ser296=)
n.659C>T
c.851C>T
c.483C>T (p.Ser161=)
c.768C>T (p.Ser256=)
n.830C>T
c.645C>T
c.159C>T (p.Ser53=)
c.696C>T (p.Ser232=)
c.107+35919C>T (n.107+35919C>T)
c.702C>T (p.Ser234=)
n.3299C>T
c.206C>T
c.681C>T (p.Ser227=)
c.*370C>T (n.*370C>T)
c.889C>T (n.889C>T)
c.759C>T (p.Ser253=)
c.348C>T (p.Ser116=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.162104026G>ACA362185265GABRG2c.731G>A
c.889G>A (p.Gly297Arg)
n.660G>A
c.852G>A
c.484G>A (p.Gly162Arg)
c.769G>A (p.Gly257Arg)
n.831G>A
c.646G>A
c.160G>A (p.Gly54Arg)
c.697G>A (p.Gly233Arg)
c.107+35920G>A (n.107+35920G>A)
c.703G>A (p.Gly235Arg)
n.3300G>A
c.207G>A
c.682G>A (p.Gly228Arg)
c.*371G>A (n.*371G>A)
c.890G>A (n.890G>A)
c.760G>A (p.Gly254Arg)
c.769G>A (p.Asp257Asn)
c.769G>A (p.Glu257Lys)
c.349G>A (p.Gly117Arg)
 ClinVar dbSNP gnomAD v4
5g.162104026G>CCA362185266GABRG2c.731G>C
c.889G>C (p.Gly297Arg)
n.660G>C
c.852G>C
c.484G>C (p.Gly162Arg)
c.769G>C (p.Gly257Arg)
n.831G>C
c.646G>C
c.160G>C (p.Gly54Arg)
c.697G>C (p.Gly233Arg)
c.107+35920G>C (n.107+35920G>C)
c.703G>C (p.Gly235Arg)
n.3300G>C
c.207G>C
c.682G>C (p.Gly228Arg)
c.*371G>C (n.*371G>C)
c.890G>C (n.890G>C)
c.760G>C (p.Gly254Arg)
c.769G>C (p.Asp257His)
c.769G>C (p.Glu257Gln)
c.349G>C (p.Gly117Arg)
5g.162104026G=CA1596365244GABRG2c.731G=
c.889G= (p.Gly297=)
n.660G=
c.852G=
c.484G= (p.Gly162=)
c.769G= (p.Gly257=)
n.831G=
c.646G=
c.160G= (p.Gly54=)
c.697G= (p.Gly233=)
c.107+35920G= (n.107+35920G=)
c.703G= (p.Gly235=)
n.3300G=
c.207G=
c.682G= (p.Gly228=)
c.*371G= (n.*371G=)
c.890G= (n.890G=)
c.760G= (p.Gly254=)
c.769G= (p.Asp257=)
c.769G= (p.Glu257=)
c.349G= (p.Gly117=)
5g.162104026G>TCA362185267GABRG2c.731G>T
c.889G>T (p.Gly297Ter)
n.660G>T
c.852G>T
c.484G>T (p.Gly162Ter)
c.769G>T (p.Gly257Ter)
n.831G>T
c.646G>T
c.160G>T (p.Gly54Ter)
c.697G>T (p.Gly233Ter)
c.107+35920G>T (n.107+35920G>T)
c.703G>T (p.Gly235Ter)
n.3300G>T
c.207G>T
c.682G>T (p.Gly228Ter)
c.*371G>T (n.*371G>T)
c.890G>T (n.890G>T)
c.760G>T (p.Gly254Ter)
c.769G>T (p.Asp257Tyr)
c.769G>T (p.Glu257Ter)
c.349G>T (p.Gly117Ter)
5g.162104027G>ACA362185268GABRG2c.731+1G>A
c.889+1G>A (n.889+1G>A)
n.660+1G>A
c.852+1G>A
c.484+1G>A (n.484+1G>A)
c.769+1G>A (n.769+1G>A)
n.831+1G>A
c.646+1G>A
c.160+1G>A (n.160+1G>A)
c.697+1G>A (n.697+1G>A)
c.107+35921G>A (n.107+35921G>A)
c.703+1G>A (n.703+1G>A)
n.3300+1G>A
c.207+1G>A
c.682+1G>A (n.682+1G>A)
c.*371+1G>A (n.*371+1G>A)
c.890+1G>A (n.890+1G>A)
c.760+1G>A (n.760+1G>A)
c.349+1G>A (n.349+1G>A)
 ClinVar dbSNP
5g.162104027G>CCA362185269GABRG2c.731+1G>C
c.889+1G>C (n.889+1G>C)
n.660+1G>C
c.852+1G>C
c.484+1G>C (n.484+1G>C)
c.769+1G>C (n.769+1G>C)
n.831+1G>C
c.646+1G>C
c.160+1G>C (n.160+1G>C)
c.697+1G>C (n.697+1G>C)
c.107+35921G>C (n.107+35921G>C)
c.703+1G>C (n.703+1G>C)
n.3300+1G>C
c.207+1G>C
c.682+1G>C (n.682+1G>C)
c.*371+1G>C (n.*371+1G>C)
c.890+1G>C (n.890+1G>C)
c.760+1G>C (n.760+1G>C)
c.349+1G>C (n.349+1G>C)
5g.162104027G>TCA362185270GABRG2c.731+1G>T
c.889+1G>T (n.889+1G>T)
n.660+1G>T
c.852+1G>T
c.484+1G>T (n.484+1G>T)
c.769+1G>T (n.769+1G>T)
n.831+1G>T
c.646+1G>T
c.160+1G>T (n.160+1G>T)
c.697+1G>T (n.697+1G>T)
c.107+35921G>T (n.107+35921G>T)
c.703+1G>T (n.703+1G>T)
n.3300+1G>T
c.207+1G>T
c.682+1G>T (n.682+1G>T)
c.*371+1G>T (n.*371+1G>T)
c.890+1G>T (n.890+1G>T)
c.760+1G>T (n.760+1G>T)
c.349+1G>T (n.349+1G>T)
5g.162104028T>ACA362185271GABRG2c.731+2T>A
c.889+2T>A (n.889+2T>A)
n.660+2T>A
c.852+2T>A
c.484+2T>A (n.484+2T>A)
c.769+2T>A (n.769+2T>A)
n.831+2T>A
c.646+2T>A
c.160+2T>A (n.160+2T>A)
c.697+2T>A (n.697+2T>A)
c.107+35922T>A (n.107+35922T>A)
c.703+2T>A (n.703+2T>A)
n.3300+2T>A
c.207+2T>A
c.682+2T>A (n.682+2T>A)
c.*371+2T>A (n.*371+2T>A)
c.890+2T>A (n.890+2T>A)
c.760+2T>A (n.760+2T>A)
c.349+2T>A (n.349+2T>A)
5g.162104028T>CCA362185272GABRG2c.731+2T>C
c.889+2T>C (n.889+2T>C)
n.660+2T>C
c.852+2T>C
c.484+2T>C (n.484+2T>C)
c.769+2T>C (n.769+2T>C)
n.831+2T>C
c.646+2T>C
c.160+2T>C (n.160+2T>C)
c.697+2T>C (n.697+2T>C)
c.107+35922T>C (n.107+35922T>C)
c.703+2T>C (n.703+2T>C)
n.3300+2T>C
c.207+2T>C
c.682+2T>C (n.682+2T>C)
c.*371+2T>C (n.*371+2T>C)
c.890+2T>C (n.890+2T>C)
c.760+2T>C (n.760+2T>C)
c.349+2T>C (n.349+2T>C)
 ClinVar
5g.162104028T>GCA362185273GABRG2c.731+2T>G
c.889+2T>G (n.889+2T>G)
n.660+2T>G
c.852+2T>G
c.484+2T>G (n.484+2T>G)
c.769+2T>G (n.769+2T>G)
n.831+2T>G
c.646+2T>G
c.160+2T>G (n.160+2T>G)
c.697+2T>G (n.697+2T>G)
c.107+35922T>G (n.107+35922T>G)
c.703+2T>G (n.703+2T>G)
n.3300+2T>G
c.207+2T>G
c.682+2T>G (n.682+2T>G)
c.*371+2T>G (n.*371+2T>G)
c.890+2T>G (n.890+2T>G)
c.760+2T>G (n.760+2T>G)
c.349+2T>G (n.349+2T>G)
 ClinVar dbSNP
5g.162104028T=CA1596365245GABRG2c.731+2T=
c.889+2T= (n.889+2T=)
n.660+2T=
c.852+2T=
c.484+2T= (n.484+2T=)
c.769+2T= (n.769+2T=)
n.831+2T=
c.646+2T=
c.160+2T= (n.160+2T=)
c.697+2T= (n.697+2T=)
c.107+35922T= (n.107+35922T=)
c.703+2T= (n.703+2T=)
n.3300+2T=
c.207+2T=
c.682+2T= (n.682+2T=)
c.*371+2T= (n.*371+2T=)
c.890+2T= (n.890+2T=)
c.760+2T= (n.760+2T=)
c.349+2T= (n.349+2T=)
5g.162104029A>GCA2676328506GABRG2c.731+3A>G
c.889+3A>G (n.889+3A>G)
n.660+3A>G
c.852+3A>G
c.484+3A>G (n.484+3A>G)
c.769+3A>G (n.769+3A>G)
n.831+3A>G
c.646+3A>G
c.160+3A>G (n.160+3A>G)
c.697+3A>G (n.697+3A>G)
c.107+35923A>G (n.107+35923A>G)
c.703+3A>G (n.703+3A>G)
n.3300+3A>G
c.207+3A>G
c.682+3A>G (n.682+3A>G)
c.*371+3A>G (n.*371+3A>G)
c.890+3A>G (n.890+3A>G)
c.760+3A>G (n.760+3A>G)
c.349+3A>G (n.349+3A>G)
 gnomAD v4
5g.162104029A>TCA2580074002GABRG2c.731+3A>T
c.889+3A>T (n.889+3A>T)
n.660+3A>T
c.852+3A>T
c.484+3A>T (n.484+3A>T)
c.769+3A>T (n.769+3A>T)
n.831+3A>T
c.646+3A>T
c.160+3A>T (n.160+3A>T)
c.697+3A>T (n.697+3A>T)
c.107+35923A>T (n.107+35923A>T)
c.703+3A>T (n.703+3A>T)
n.3300+3A>T
c.207+3A>T
c.682+3A>T (n.682+3A>T)
c.*371+3A>T (n.*371+3A>T)
c.890+3A>T (n.890+3A>T)
c.760+3A>T (n.760+3A>T)
c.349+3A>T (n.349+3A>T)
 ClinVar
5g.162104031G>CCA916082795GABRG2c.731+5G>C
c.889+5G>C (n.889+5G>C)
n.660+5G>C
c.852+5G>C
c.484+5G>C (n.484+5G>C)
c.769+5G>C (n.769+5G>C)
n.831+5G>C
c.646+5G>C
c.160+5G>C (n.160+5G>C)
c.697+5G>C (n.697+5G>C)
c.107+35925G>C (n.107+35925G>C)
c.703+5G>C (n.703+5G>C)
n.3300+5G>C
c.207+5G>C
c.682+5G>C (n.682+5G>C)
c.*371+5G>C (n.*371+5G>C)
c.890+5G>C (n.890+5G>C)
c.760+5G>C (n.760+5G>C)
c.349+5G>C (n.349+5G>C)
 ClinVar dbSNP
5g.162104031G=CA1596365246GABRG2c.731+5G=
c.889+5G= (n.889+5G=)
n.660+5G=
c.852+5G=
c.484+5G= (n.484+5G=)
c.769+5G= (n.769+5G=)
n.831+5G=
c.646+5G=
c.160+5G= (n.160+5G=)
c.697+5G= (n.697+5G=)
c.107+35925G= (n.107+35925G=)
c.703+5G= (n.703+5G=)
n.3300+5G=
c.207+5G=
c.682+5G= (n.682+5G=)
c.*371+5G= (n.*371+5G=)
c.890+5G= (n.890+5G=)
c.760+5G= (n.760+5G=)
c.349+5G= (n.349+5G=)
5g.162104031G>TCA645567322GABRG2c.731+5G>T
c.889+5G>T (n.889+5G>T)
n.660+5G>T
c.852+5G>T
c.484+5G>T (n.484+5G>T)
c.769+5G>T (n.769+5G>T)
n.831+5G>T
c.646+5G>T
c.160+5G>T (n.160+5G>T)
c.697+5G>T (n.697+5G>T)
c.107+35925G>T (n.107+35925G>T)
c.703+5G>T (n.703+5G>T)
n.3300+5G>T
c.207+5G>T
c.682+5G>T (n.682+5G>T)
c.*371+5G>T (n.*371+5G>T)
c.890+5G>T (n.890+5G>T)
c.760+5G>T (n.760+5G>T)
c.349+5G>T (n.349+5G>T)
 COSMIC
5g.162104033T>ACA2676328510GABRG2c.731+7T>A
c.889+7T>A (n.889+7T>A)
n.660+7T>A
c.852+7T>A
c.484+7T>A (n.484+7T>A)
c.769+7T>A (n.769+7T>A)
n.831+7T>A
c.646+7T>A
c.160+7T>A (n.160+7T>A)
c.697+7T>A (n.697+7T>A)
c.107+35927T>A (n.107+35927T>A)
c.703+7T>A (n.703+7T>A)
n.3300+7T>A
c.207+7T>A
c.682+7T>A (n.682+7T>A)
c.*371+7T>A (n.*371+7T>A)
c.890+7T>A (n.890+7T>A)
c.760+7T>A (n.760+7T>A)
c.349+7T>A (n.349+7T>A)
 gnomAD v4
5g.162104033T>CCA564176260GABRG2c.731+7T>C
c.889+7T>C (n.889+7T>C)
n.660+7T>C
c.852+7T>C
c.484+7T>C (n.484+7T>C)
c.769+7T>C (n.769+7T>C)
n.831+7T>C
c.646+7T>C
c.160+7T>C (n.160+7T>C)
c.697+7T>C (n.697+7T>C)
c.107+35927T>C (n.107+35927T>C)
c.703+7T>C (n.703+7T>C)
n.3300+7T>C
c.207+7T>C
c.682+7T>C (n.682+7T>C)
c.*371+7T>C (n.*371+7T>C)
c.890+7T>C (n.890+7T>C)
c.760+7T>C (n.760+7T>C)
c.349+7T>C (n.349+7T>C)
 dbSNP gnomAD v2
5g.162104033T=CA1596365247GABRG2c.731+7T=
c.889+7T= (n.889+7T=)
n.660+7T=
c.852+7T=
c.484+7T= (n.484+7T=)
c.769+7T= (n.769+7T=)
n.831+7T=
c.646+7T=
c.160+7T= (n.160+7T=)
c.697+7T= (n.697+7T=)
c.107+35927T= (n.107+35927T=)
c.703+7T= (n.703+7T=)
n.3300+7T=
c.207+7T=
c.682+7T= (n.682+7T=)
c.*371+7T= (n.*371+7T=)
c.890+7T= (n.890+7T=)
c.760+7T= (n.760+7T=)
c.349+7T= (n.349+7T=)
5g.162104034_162104035delinsAACA2740094172GABRG2c.731+8_731+9delinsAA
c.889+8_889+9delinsAA (n.889+8_889+9delinsAA)
n.660+8_660+9delinsAA
c.852+8_852+9delinsAA
c.484+8_484+9delinsAA (n.484+8_484+9delinsAA)
c.769+8_769+9delinsAA (n.769+8_769+9delinsAA)
n.831+8_831+9delinsAA
c.646+8_646+9delinsAA
c.160+8_160+9delinsAA (n.160+8_160+9delinsAA)
c.697+8_697+9delinsAA (n.697+8_697+9delinsAA)
c.107+35928_107+35929delinsAA (n.107+35928_107+35929delinsAA)
c.703+8_703+9delinsAA (n.703+8_703+9delinsAA)
n.3300+8_3300+9delinsAA
c.207+8_207+9delinsAA
c.682+8_682+9delinsAA (n.682+8_682+9delinsAA)
c.*371+8_*371+9delinsAA (n.*371+8_*371+9delinsAA)
c.890+8_890+9delinsAA (n.890+8_890+9delinsAA)
c.760+8_760+9delinsAA (n.760+8_760+9delinsAA)
c.349+8_349+9delinsAA (n.349+8_349+9delinsAA)
 ClinVar
5g.162104035C>ACA1596365249GABRG2c.731+9C>A
c.889+9C>A (n.889+9C>A)
n.660+9C>A
c.852+9C>A
c.484+9C>A (n.484+9C>A)
c.769+9C>A (n.769+9C>A)
n.831+9C>A
c.646+9C>A
c.160+9C>A (n.160+9C>A)
c.697+9C>A (n.697+9C>A)
c.107+35929C>A (n.107+35929C>A)
c.703+9C>A (n.703+9C>A)
n.3300+9C>A
c.207+9C>A
c.682+9C>A (n.682+9C>A)
c.*371+9C>A (n.*371+9C>A)
c.890+9C>A (n.890+9C>A)
c.760+9C>A (n.760+9C>A)
c.349+9C>A (n.349+9C>A)
 ClinVar dbSNP gnomAD v4
5g.162104035C=CA1596365248GABRG2c.731+9C=
c.889+9C= (n.889+9C=)
n.660+9C=
c.852+9C=
c.484+9C= (n.484+9C=)
c.769+9C= (n.769+9C=)
n.831+9C=
c.646+9C=
c.160+9C= (n.160+9C=)
c.697+9C= (n.697+9C=)
c.107+35929C= (n.107+35929C=)
c.703+9C= (n.703+9C=)
n.3300+9C=
c.207+9C=
c.682+9C= (n.682+9C=)
c.*371+9C= (n.*371+9C=)
c.890+9C= (n.890+9C=)
c.760+9C= (n.760+9C=)
c.349+9C= (n.349+9C=)
5g.162104035C>TCA1596365250GABRG2c.731+9C>T
c.889+9C>T (n.889+9C>T)
n.660+9C>T
c.852+9C>T
c.484+9C>T (n.484+9C>T)
c.769+9C>T (n.769+9C>T)
n.831+9C>T
c.646+9C>T
c.160+9C>T (n.160+9C>T)
c.697+9C>T (n.697+9C>T)
c.107+35929C>T (n.107+35929C>T)
c.703+9C>T (n.703+9C>T)
n.3300+9C>T
c.207+9C>T
c.682+9C>T (n.682+9C>T)
c.*371+9C>T (n.*371+9C>T)
c.890+9C>T (n.890+9C>T)
c.760+9C>T (n.760+9C>T)
c.349+9C>T (n.349+9C>T)
 dbSNP
5g.162104036A=CA1596365251GABRG2c.731+10A=
c.889+10A= (n.889+10A=)
n.660+10A=
c.852+10A=
c.484+10A= (n.484+10A=)
c.769+10A= (n.769+10A=)
n.831+10A=
c.646+10A=
c.160+10A= (n.160+10A=)
c.697+10A= (n.697+10A=)
c.107+35930A= (n.107+35930A=)
c.703+10A= (n.703+10A=)
n.3300+10A=
c.207+10A=
c.682+10A= (n.682+10A=)
c.*371+10A= (n.*371+10A=)
c.890+10A= (n.890+10A=)
c.760+10A= (n.760+10A=)
c.349+10A= (n.349+10A=)
5g.162104036A>GCA3544808GABRG2c.731+10A>G
c.889+10A>G (n.889+10A>G)
n.660+10A>G
c.852+10A>G
c.484+10A>G (n.484+10A>G)
c.769+10A>G (n.769+10A>G)
n.831+10A>G
c.646+10A>G
c.160+10A>G (n.160+10A>G)
c.697+10A>G (n.697+10A>G)
c.107+35930A>G (n.107+35930A>G)
c.703+10A>G (n.703+10A>G)
n.3300+10A>G
c.207+10A>G
c.682+10A>G (n.682+10A>G)
c.*371+10A>G (n.*371+10A>G)
c.890+10A>G (n.890+10A>G)
c.760+10A>G (n.760+10A>G)
c.349+10A>G (n.349+10A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.162104036A>TCA1596365252GABRG2c.731+10A>T
c.889+10A>T (n.889+10A>T)
n.660+10A>T
c.852+10A>T
c.484+10A>T (n.484+10A>T)
c.769+10A>T (n.769+10A>T)
n.831+10A>T
c.646+10A>T
c.160+10A>T (n.160+10A>T)
c.697+10A>T (n.697+10A>T)
c.107+35930A>T (n.107+35930A>T)
c.703+10A>T (n.703+10A>T)
n.3300+10A>T
c.207+10A>T
c.682+10A>T (n.682+10A>T)
c.*371+10A>T (n.*371+10A>T)
c.890+10A>T (n.890+10A>T)
c.760+10A>T (n.760+10A>T)
c.349+10A>T (n.349+10A>T)
 dbSNP gnomAD v4
5g.162104037delCA2676328514GABRG2c.731+11del
c.889+11del (n.889+11del)
n.660+11del
c.852+11del
c.484+11del (n.484+11del)
c.769+11del (n.769+11del)
n.831+11del
c.646+11del
c.160+11del (n.160+11del)
c.697+11del (n.697+11del)
c.107+35931del (n.107+35931del)
c.703+11del (n.703+11del)
n.3300+11del
c.207+11del
c.682+11del (n.682+11del)
c.*371+11del (n.*371+11del)
c.890+11del (n.890+11del)
c.760+11del (n.760+11del)
c.349+11del (n.349+11del)
 gnomAD v4
5g.162104037C=CA1596365254GABRG2c.731+11C=
c.889+11C= (n.889+11C=)
n.660+11C=
c.852+11C=
c.484+11C= (n.484+11C=)
c.769+11C= (n.769+11C=)
n.831+11C=
c.646+11C=
c.160+11C= (n.160+11C=)
c.697+11C= (n.697+11C=)
c.107+35931C= (n.107+35931C=)
c.703+11C= (n.703+11C=)
n.3300+11C=
c.207+11C=
c.682+11C= (n.682+11C=)
c.*371+11C= (n.*371+11C=)
c.890+11C= (n.890+11C=)
c.760+11C= (n.760+11C=)
c.349+11C= (n.349+11C=)
5g.162104037C>TCA1596365253GABRG2c.731+11C>T
c.889+11C>T (n.889+11C>T)
n.660+11C>T
c.852+11C>T
c.484+11C>T (n.484+11C>T)
c.769+11C>T (n.769+11C>T)
n.831+11C>T
c.646+11C>T
c.160+11C>T (n.160+11C>T)
c.697+11C>T (n.697+11C>T)
c.107+35931C>T (n.107+35931C>T)
c.703+11C>T (n.703+11C>T)
n.3300+11C>T
c.207+11C>T
c.682+11C>T (n.682+11C>T)
c.*371+11C>T (n.*371+11C>T)
c.890+11C>T (n.890+11C>T)
c.760+11C>T (n.760+11C>T)
c.349+11C>T (n.349+11C>T)
 dbSNP
5g.162104038T>GCA1083705293GABRG2c.731+12T>G
c.889+12T>G (n.889+12T>G)
n.660+12T>G
c.852+12T>G
c.484+12T>G (n.484+12T>G)
c.769+12T>G (n.769+12T>G)
n.831+12T>G
c.646+12T>G
c.160+12T>G (n.160+12T>G)
c.697+12T>G (n.697+12T>G)
c.107+35932T>G (n.107+35932T>G)
c.703+12T>G (n.703+12T>G)
n.3300+12T>G
c.207+12T>G
c.682+12T>G (n.682+12T>G)
c.*371+12T>G (n.*371+12T>G)
c.890+12T>G (n.890+12T>G)
c.760+12T>G (n.760+12T>G)
c.349+12T>G (n.349+12T>G)
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.162104038T=CA1596365255GABRG2c.731+12T=
c.889+12T= (n.889+12T=)
n.660+12T=
c.852+12T=
c.484+12T= (n.484+12T=)
c.769+12T= (n.769+12T=)
n.831+12T=
c.646+12T=
c.160+12T= (n.160+12T=)
c.697+12T= (n.697+12T=)
c.107+35932T= (n.107+35932T=)
c.703+12T= (n.703+12T=)
n.3300+12T=
c.207+12T=
c.682+12T= (n.682+12T=)
c.*371+12T= (n.*371+12T=)
c.890+12T= (n.890+12T=)
c.760+12T= (n.760+12T=)
c.349+12T= (n.349+12T=)
5g.162104039G>ACA2676328518GABRG2c.731+13G>A
c.889+13G>A (n.889+13G>A)
n.660+13G>A
c.852+13G>A
c.484+13G>A (n.484+13G>A)
c.769+13G>A (n.769+13G>A)
n.831+13G>A
c.646+13G>A
c.160+13G>A (n.160+13G>A)
c.697+13G>A (n.697+13G>A)
c.107+35933G>A (n.107+35933G>A)
c.703+13G>A (n.703+13G>A)
n.3300+13G>A
c.207+13G>A
c.682+13G>A (n.682+13G>A)
c.*371+13G>A (n.*371+13G>A)
c.890+13G>A (n.890+13G>A)
c.760+13G>A (n.760+13G>A)
c.349+13G>A (n.349+13G>A)
 gnomAD v4
5g.162104039G>TCA2710581321GABRG2c.731+13G>T
c.889+13G>T (n.889+13G>T)
n.660+13G>T
c.852+13G>T
c.484+13G>T (n.484+13G>T)
c.769+13G>T (n.769+13G>T)
n.831+13G>T
c.646+13G>T
c.160+13G>T (n.160+13G>T)
c.697+13G>T (n.697+13G>T)
c.107+35933G>T (n.107+35933G>T)
c.703+13G>T (n.703+13G>T)
n.3300+13G>T
c.207+13G>T
c.682+13G>T (n.682+13G>T)
c.*371+13G>T (n.*371+13G>T)
c.890+13G>T (n.890+13G>T)
c.760+13G>T (n.760+13G>T)
c.349+13G>T (n.349+13G>T)
 dbSNP
5g.162104041C>ACA1596365257GABRG2c.731+15C>A
c.889+15C>A (n.889+15C>A)
n.660+15C>A
c.852+15C>A
c.484+15C>A (n.484+15C>A)
c.769+15C>A (n.769+15C>A)
n.831+15C>A
c.646+15C>A
c.160+15C>A (n.160+15C>A)
c.697+15C>A (n.697+15C>A)
c.107+35935C>A (n.107+35935C>A)
c.703+15C>A (n.703+15C>A)
n.3300+15C>A
c.207+15C>A
c.682+15C>A (n.682+15C>A)
c.*371+15C>A (n.*371+15C>A)
c.890+15C>A (n.890+15C>A)
c.760+15C>A (n.760+15C>A)
c.349+15C>A (n.349+15C>A)
 dbSNP gnomAD v4
5g.162104041C=CA1596365256GABRG2c.731+15C=
c.889+15C= (n.889+15C=)
n.660+15C=
c.852+15C=
c.484+15C= (n.484+15C=)
c.769+15C= (n.769+15C=)
n.831+15C=
c.646+15C=
c.160+15C= (n.160+15C=)
c.697+15C= (n.697+15C=)
c.107+35935C= (n.107+35935C=)
c.703+15C= (n.703+15C=)
n.3300+15C=
c.207+15C=
c.682+15C= (n.682+15C=)
c.*371+15C= (n.*371+15C=)
c.890+15C= (n.890+15C=)
c.760+15C= (n.760+15C=)
c.349+15C= (n.349+15C=)
5g.162104041C>TCA1083705296GABRG2c.731+15C>T
c.889+15C>T (n.889+15C>T)
n.660+15C>T
c.852+15C>T
c.484+15C>T (n.484+15C>T)
c.769+15C>T (n.769+15C>T)
n.831+15C>T
c.646+15C>T
c.160+15C>T (n.160+15C>T)
c.697+15C>T (n.697+15C>T)
c.107+35935C>T (n.107+35935C>T)
c.703+15C>T (n.703+15C>T)
n.3300+15C>T
c.207+15C>T
c.682+15C>T (n.682+15C>T)
c.*371+15C>T (n.*371+15C>T)
c.890+15C>T (n.890+15C>T)
c.760+15C>T (n.760+15C>T)
c.349+15C>T (n.349+15C>T)
 dbSNP gnomAD v3 gnomAD v4
5g.162104042A>GCA2710581348GABRG2c.731+16A>G
c.889+16A>G (n.889+16A>G)
n.660+16A>G
c.852+16A>G
c.484+16A>G (n.484+16A>G)
c.769+16A>G (n.769+16A>G)
n.831+16A>G
c.646+16A>G
c.160+16A>G (n.160+16A>G)
c.697+16A>G (n.697+16A>G)
c.107+35936A>G (n.107+35936A>G)
c.703+16A>G (n.703+16A>G)
n.3300+16A>G
c.207+16A>G
c.682+16A>G (n.682+16A>G)
c.*371+16A>G (n.*371+16A>G)
c.890+16A>G (n.890+16A>G)
c.760+16A>G (n.760+16A>G)
c.349+16A>G (n.349+16A>G)
 dbSNP
5g.162104043A>GCA2580074003GABRG2c.731+17A>G
c.889+17A>G (n.889+17A>G)
n.660+17A>G
c.852+17A>G
c.484+17A>G (n.484+17A>G)
c.769+17A>G (n.769+17A>G)
n.831+17A>G
c.646+17A>G
c.160+17A>G (n.160+17A>G)
c.697+17A>G (n.697+17A>G)
c.107+35937A>G (n.107+35937A>G)
c.703+17A>G (n.703+17A>G)
n.3300+17A>G
c.207+17A>G
c.682+17A>G (n.682+17A>G)
c.*371+17A>G (n.*371+17A>G)
c.890+17A>G (n.890+17A>G)
c.760+17A>G (n.760+17A>G)
c.349+17A>G (n.349+17A>G)
 ClinVar gnomAD v4
5g.162104044A=CA1596365258GABRG2c.731+18A=
c.889+18A= (n.889+18A=)
n.660+18A=
c.852+18A=
c.484+18A= (n.484+18A=)
c.769+18A= (n.769+18A=)
n.831+18A=
c.646+18A=
c.160+18A= (n.160+18A=)
c.697+18A= (n.697+18A=)
c.107+35938A= (n.107+35938A=)
c.703+18A= (n.703+18A=)
n.3300+18A=
c.207+18A=
c.682+18A= (n.682+18A=)
c.*371+18A= (n.*371+18A=)
c.890+18A= (n.890+18A=)
c.760+18A= (n.760+18A=)
c.349+18A= (n.349+18A=)
5g.162104044A>GCA3544809GABRG2c.731+18A>G
c.889+18A>G (n.889+18A>G)
n.660+18A>G
c.852+18A>G
c.484+18A>G (n.484+18A>G)
c.769+18A>G (n.769+18A>G)
n.831+18A>G
c.646+18A>G
c.160+18A>G (n.160+18A>G)
c.697+18A>G (n.697+18A>G)
c.107+35938A>G (n.107+35938A>G)
c.703+18A>G (n.703+18A>G)
n.3300+18A>G
c.207+18A>G
c.682+18A>G (n.682+18A>G)
c.*371+18A>G (n.*371+18A>G)
c.890+18A>G (n.890+18A>G)
c.760+18A>G (n.760+18A>G)
c.349+18A>G (n.349+18A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.162104044A>TCA2676328521GABRG2c.731+18A>T
c.889+18A>T (n.889+18A>T)
n.660+18A>T
c.852+18A>T
c.484+18A>T (n.484+18A>T)
c.769+18A>T (n.769+18A>T)
n.831+18A>T
c.646+18A>T
c.160+18A>T (n.160+18A>T)
c.697+18A>T (n.697+18A>T)
c.107+35938A>T (n.107+35938A>T)
c.703+18A>T (n.703+18A>T)
n.3300+18A>T
c.207+18A>T
c.682+18A>T (n.682+18A>T)
c.*371+18A>T (n.*371+18A>T)
c.890+18A>T (n.890+18A>T)
c.760+18A>T (n.760+18A>T)
c.349+18A>T (n.349+18A>T)
 gnomAD v4
5g.162104045G>ACA2578474903GABRG2c.731+19G>A
c.889+19G>A (n.889+19G>A)
n.660+19G>A
c.852+19G>A
c.484+19G>A (n.484+19G>A)
c.769+19G>A (n.769+19G>A)
n.831+19G>A
c.646+19G>A
c.160+19G>A (n.160+19G>A)
c.697+19G>A (n.697+19G>A)
c.107+35939G>A (n.107+35939G>A)
c.703+19G>A (n.703+19G>A)
n.3300+19G>A
c.207+19G>A
c.682+19G>A (n.682+19G>A)
c.*371+19G>A (n.*371+19G>A)
c.890+19G>A (n.890+19G>A)
c.760+19G>A (n.760+19G>A)
c.349+19G>A (n.349+19G>A)
5g.162104045G=CA1596365259GABRG2c.731+19G=
c.889+19G= (n.889+19G=)
n.660+19G=
c.852+19G=
c.484+19G= (n.484+19G=)
c.769+19G= (n.769+19G=)
n.831+19G=
c.646+19G=
c.160+19G= (n.160+19G=)
c.697+19G= (n.697+19G=)
c.107+35939G= (n.107+35939G=)
c.703+19G= (n.703+19G=)
n.3300+19G=
c.207+19G=
c.682+19G= (n.682+19G=)
c.*371+19G= (n.*371+19G=)
c.890+19G= (n.890+19G=)
c.760+19G= (n.760+19G=)
c.349+19G= (n.349+19G=)
5g.162104045G>TCA650863934GABRG2c.731+19G>T
c.889+19G>T (n.889+19G>T)
n.660+19G>T
c.852+19G>T
c.484+19G>T (n.484+19G>T)
c.769+19G>T (n.769+19G>T)
n.831+19G>T
c.646+19G>T
c.160+19G>T (n.160+19G>T)
c.697+19G>T (n.697+19G>T)
c.107+35939G>T (n.107+35939G>T)
c.703+19G>T (n.703+19G>T)
n.3300+19G>T
c.207+19G>T
c.682+19G>T (n.682+19G>T)
c.*371+19G>T (n.*371+19G>T)
c.890+19G>T (n.890+19G>T)
c.760+19G>T (n.760+19G>T)
c.349+19G>T (n.349+19G>T)
 gnomAD v4 COSMIC
5g.162104046A=CA1596365260GABRG2c.731+20A=
c.889+20A= (n.889+20A=)
n.660+20A=
c.852+20A=
c.484+20A= (n.484+20A=)
c.769+20A= (n.769+20A=)
n.831+20A=
c.646+20A=
c.160+20A= (n.160+20A=)
c.697+20A= (n.697+20A=)
c.107+35940A= (n.107+35940A=)
c.703+20A= (n.703+20A=)
n.3300+20A=
c.207+20A=
c.682+20A= (n.682+20A=)
c.*371+20A= (n.*371+20A=)
c.890+20A= (n.890+20A=)
c.760+20A= (n.760+20A=)
c.349+20A= (n.349+20A=)
5g.162104046A>CCA291004GABRG2c.731+20A>C
c.889+20A>C (n.889+20A>C)
n.660+20A>C
c.852+20A>C
c.484+20A>C (n.484+20A>C)
c.769+20A>C (n.769+20A>C)
n.831+20A>C
c.646+20A>C
c.160+20A>C (n.160+20A>C)
c.697+20A>C (n.697+20A>C)
c.107+35940A>C (n.107+35940A>C)
c.703+20A>C (n.703+20A>C)
n.3300+20A>C
c.207+20A>C
c.682+20A>C (n.682+20A>C)
c.*371+20A>C (n.*371+20A>C)
c.890+20A>C (n.890+20A>C)
c.760+20A>C (n.760+20A>C)
c.349+20A>C (n.349+20A>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.162104047dupCA3544810GABRG2c.731+21dup
c.889+21dup (n.889+21dup)
n.660+21dup
c.852+21dup
c.484+21dup (n.484+21dup)
c.769+21dup (n.769+21dup)
n.831+21dup
c.646+21dup
c.160+21dup (n.160+21dup)
c.697+21dup (n.697+21dup)
c.107+35941dup (n.107+35941dup)
c.703+21dup (n.703+21dup)
n.3300+21dup
c.207+21dup
c.682+21dup (n.682+21dup)
c.*371+21dup (n.*371+21dup)
c.890+21dup (n.890+21dup)
c.760+21dup (n.760+21dup)
c.349+21dup (n.349+21dup)
 dbSNP ExAC
5g.162104047_162104048delinsATCA1596365261GABRG2c.731+21_731+22delinsAT
c.889+21_889+22delinsAT (n.889+21_889+22delinsAT)
n.660+21_660+22delinsAT
c.852+21_852+22delinsAT
c.484+21_484+22delinsAT (n.484+21_484+22delinsAT)
c.769+21_769+22delinsAT (n.769+21_769+22delinsAT)
n.831+21_831+22delinsAT
c.646+21_646+22delinsAT
c.160+21_160+22delinsAT (n.160+21_160+22delinsAT)
c.697+21_697+22delinsAT (n.697+21_697+22delinsAT)
c.107+35941_107+35942delinsAT (n.107+35941_107+35942delinsAT)
c.703+21_703+22delinsAT (n.703+21_703+22delinsAT)
n.3300+21_3300+22delinsAT
c.207+21_207+22delinsAT
c.682+21_682+22delinsAT (n.682+21_682+22delinsAT)
c.*371+21_*371+22delinsAT (n.*371+21_*371+22delinsAT)
c.890+21_890+22delinsAT (n.890+21_890+22delinsAT)
c.760+21_760+22delinsAT (n.760+21_760+22delinsAT)
c.349+21_349+22delinsAT (n.349+21_349+22delinsAT)
5g.162104048T>CCA1596365263GABRG2c.731+22T>C
c.889+22T>C (n.889+22T>C)
n.660+22T>C
c.852+22T>C
c.484+22T>C (n.484+22T>C)
c.769+22T>C (n.769+22T>C)
n.831+22T>C
c.646+22T>C
c.160+22T>C (n.160+22T>C)
c.697+22T>C (n.697+22T>C)
c.107+35942T>C (n.107+35942T>C)
c.703+22T>C (n.703+22T>C)
n.3300+22T>C
c.207+22T>C
c.682+22T>C (n.682+22T>C)
c.*371+22T>C (n.*371+22T>C)
c.890+22T>C (n.890+22T>C)
c.760+22T>C (n.760+22T>C)
c.349+22T>C (n.349+22T>C)
 dbSNP
5g.162104048T>GCA806639832GABRG2c.731+22T>G
c.889+22T>G (n.889+22T>G)
n.660+22T>G
c.852+22T>G
c.484+22T>G (n.484+22T>G)
c.769+22T>G (n.769+22T>G)
n.831+22T>G
c.646+22T>G
c.160+22T>G (n.160+22T>G)
c.697+22T>G (n.697+22T>G)
c.107+35942T>G (n.107+35942T>G)
c.703+22T>G (n.703+22T>G)
n.3300+22T>G
c.207+22T>G
c.682+22T>G (n.682+22T>G)
c.*371+22T>G (n.*371+22T>G)
c.890+22T>G (n.890+22T>G)
c.760+22T>G (n.760+22T>G)
c.349+22T>G (n.349+22T>G)
 dbSNP gnomAD v3 gnomAD v4
5g.162104048T=CA1596365262GABRG2c.731+22T=
c.889+22T= (n.889+22T=)
n.660+22T=
c.852+22T=
c.484+22T= (n.484+22T=)
c.769+22T= (n.769+22T=)
n.831+22T=
c.646+22T=
c.160+22T= (n.160+22T=)
c.697+22T= (n.697+22T=)
c.107+35942T= (n.107+35942T=)
c.703+22T= (n.703+22T=)
n.3300+22T=
c.207+22T=
c.682+22T= (n.682+22T=)
c.*371+22T= (n.*371+22T=)
c.890+22T= (n.890+22T=)
c.760+22T= (n.760+22T=)
c.349+22T= (n.349+22T=)
5g.162104050delCA1083705309GABRG2c.731+24del
c.889+24del (n.889+24del)
n.660+24del
c.852+24del
c.484+24del (n.484+24del)
c.769+24del (n.769+24del)
n.831+24del
c.646+24del
c.160+24del (n.160+24del)
c.697+24del (n.697+24del)
c.107+35944del (n.107+35944del)
c.703+24del (n.703+24del)
n.3300+24del
c.207+24del
c.682+24del (n.682+24del)
c.*371+24del (n.*371+24del)
c.890+24del (n.890+24del)
c.760+24del (n.760+24del)
c.349+24del (n.349+24del)
 dbSNP gnomAD v3 gnomAD v4
5g.162104048_162104060delinsTTTCAAGTGACCCCA1596365264GABRG2c.731+22_731+34delinsTTTCAAGTGACCC
c.889+22_889+34delinsTTTCAAGTGACCC (n.889+22_889+34delinsTTTCAAGTGACCC)
n.660+22_660+34delinsTTTCAAGTGACCC
c.852+22_852+34delinsTTTCAAGTGACCC
c.484+22_484+34delinsTTTCAAGTGACCC (n.484+22_484+34delinsTTTCAAGTGACCC)
c.769+22_769+34delinsTTTCAAGTGACCC (n.769+22_769+34delinsTTTCAAGTGACCC)
n.831+22_831+34delinsTTTCAAGTGACCC
c.646+22_646+34delinsTTTCAAGTGACCC
c.160+22_160+34delinsTTTCAAGTGACCC (n.160+22_160+34delinsTTTCAAGTGACCC)
c.697+22_697+34delinsTTTCAAGTGACCC (n.697+22_697+34delinsTTTCAAGTGACCC)
c.107+35942_107+35954delinsTTTCAAGTGACCC (n.107+35942_107+35954delinsTTTCAAGTGACCC)
c.703+22_703+34delinsTTTCAAGTGACCC (n.703+22_703+34delinsTTTCAAGTGACCC)
n.3300+22_3300+34delinsTTTCAAGTGACCC
c.207+22_207+34delinsTTTCAAGTGACCC
c.682+22_682+34delinsTTTCAAGTGACCC (n.682+22_682+34delinsTTTCAAGTGACCC)
c.*371+22_*371+34delinsTTTCAAGTGACCC (n.*371+22_*371+34delinsTTTCAAGTGACCC)
c.890+22_890+34delinsTTTCAAGTGACCC (n.890+22_890+34delinsTTTCAAGTGACCC)
c.760+22_760+34delinsTTTCAAGTGACCC (n.760+22_760+34delinsTTTCAAGTGACCC)
c.349+22_349+34delinsTTTCAAGTGACCC (n.349+22_349+34delinsTTTCAAGTGACCC)

Number of alleles fetched