Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.161854189A>CCA362181506GABRA1c.106A>C (p.Lys36Gln)
n.881A>C
c.168A>C (p.Leu56Phe)
c.151A>C (p.Lys51Gln)
c.124A>C (p.Lys42Gln)
c.169A>C (p.Lys57Gln)
5g.161854189A>GCA362181507GABRA1c.106A>G (p.Lys36Glu)
n.881A>G
c.168A>G (p.Leu56=)
c.151A>G (p.Lys51Glu)
c.124A>G (p.Lys42Glu)
c.169A>G (p.Lys57Glu)
5g.161854189A>TCA362181508GABRA1c.106A>T (p.Lys36Ter)
n.881A>T
c.168A>T (p.Leu56Phe)
c.151A>T (p.Lys51Ter)
c.124A>T (p.Lys42Ter)
c.169A>T (p.Lys57Ter)
5g.161854190A>CCA362181511GABRA1c.107A>C (p.Lys36Thr)
n.882A>C
c.169A>C (p.Lys57Gln)
c.152A>C (p.Lys51Thr)
c.125A>C (p.Lys42Thr)
c.170A>C (p.Lys57Thr)
5g.161854190A>GCA362181509GABRA1c.107A>G (p.Lys36Arg)
n.882A>G
c.169A>G (p.Lys57Glu)
c.152A>G (p.Lys51Arg)
c.125A>G (p.Lys42Arg)
c.170A>G (p.Lys57Arg)
5g.161854190A>TCA362181510GABRA1c.107A>T (p.Lys36Ile)
n.882A>T
c.169A>T (p.Lys57Ter)
c.152A>T (p.Lys51Ile)
c.125A>T (p.Lys42Ile)
c.170A>T (p.Lys57Ile)
5g.161854191A>CCA362181512GABRA1c.108A>C (p.Lys36Asn)
n.883A>C
c.170A>C (p.Lys57Thr)
c.153A>C (p.Lys51Asn)
c.126A>C (p.Lys42Asn)
c.171A>C (p.Lys57Asn)
5g.161854191A>GCA447608794GABRA1c.108A>G (p.Lys36=)
n.883A>G
c.170A>G (p.Lys57Arg)
c.153A>G (p.Lys51=)
c.126A>G (p.Lys42=)
c.171A>G (p.Lys57=)
5g.161854191A>TCA362181513GABRA1c.108A>T (p.Lys36Asn)
n.883A>T
c.170A>T (p.Lys57Met)
c.153A>T (p.Lys51Asn)
c.126A>T (p.Lys42Asn)
c.171A>T (p.Lys57Asn)
5g.161854192G>ACA362181514GABRA1c.109G>A (p.Asp37Asn)
n.884G>A
c.171G>A (p.Lys57=)
c.154G>A (p.Asp52Asn)
c.127G>A (p.Asp43Asn)
c.172G>A (p.Asp58Asn)
5g.161854192G>CCA362181515GABRA1c.109G>C (p.Asp37His)
n.884G>C
c.171G>C (p.Lys57Asn)
c.154G>C (p.Asp52His)
c.127G>C (p.Asp43His)
c.172G>C (p.Asp58His)
5g.161854192G>TCA362181516GABRA1c.109G>T (p.Asp37Tyr)
n.884G>T
c.171G>T (p.Lys57Asn)
c.154G>T (p.Asp52Tyr)
c.127G>T (p.Asp43Tyr)
c.172G>T (p.Asp58Tyr)
5g.161854193A>CCA362181517GABRA1c.110A>C (p.Asp37Ala)
n.885A>C
c.172A>C (p.Thr58Pro)
c.155A>C (p.Asp52Ala)
c.128A>C (p.Asp43Ala)
c.173A>C (p.Asp58Ala)
5g.161854193A>GCA362181518GABRA1c.110A>G (p.Asp37Gly)
n.885A>G
c.172A>G (p.Thr58Ala)
c.155A>G (p.Asp52Gly)
c.128A>G (p.Asp43Gly)
c.173A>G (p.Asp58Gly)
5g.161854193A>TCA362181519GABRA1c.110A>T (p.Asp37Val)
n.885A>T
c.172A>T (p.Thr58Ser)
c.155A>T (p.Asp52Val)
c.128A>T (p.Asp43Val)
c.173A>T (p.Asp58Val)
5g.161854194C>ACA362181520GABRA1c.111C>A (p.Asp37Glu)
n.886C>A
c.173C>A (p.Thr58Lys)
c.156C>A (p.Asp52Glu)
c.129C>A (p.Asp43Glu)
c.174C>A (p.Asp58Glu)
 gnomAD v4
5g.161854194C=CA1596214932GABRA1c.111C= (p.Asp37=)
n.886C=
c.173C= (p.Thr58=)
c.156C= (p.Asp52=)
c.129C= (p.Asp43=)
c.174C= (p.Asp58=)
5g.161854194C>GCA362181521GABRA1c.111C>G (p.Asp37Glu)
n.886C>G
c.173C>G (p.Thr58Arg)
c.156C>G (p.Asp52Glu)
c.129C>G (p.Asp43Glu)
c.174C>G (p.Asp58Glu)
 dbSNP gnomAD v2 gnomAD v4
5g.161854194C>TCA447608795GABRA1c.111C>T (p.Asp37=)
n.886C>T
c.173C>T (p.Thr58Ile)
c.156C>T (p.Asp52=)
c.129C>T (p.Asp43=)
c.174C>T (p.Asp58=)
 dbSNP gnomAD v2 gnomAD v4
5g.161854195A=CA1596214935GABRA1c.112A= (p.Asn38=)
n.887A=
c.174A= (p.Thr58=)
c.157A= (p.Asn53=)
c.130A= (p.Asn44=)
c.175A= (p.Asn59=)
5g.161854195A>CCA362181522GABRA1c.112A>C (p.Asn38His)
n.887A>C
c.174A>C (p.Thr58=)
c.157A>C (p.Asn53His)
c.130A>C (p.Asn44His)
c.175A>C (p.Asn59His)
5g.161854195A>GCA362181523GABRA1c.112A>G (p.Asn38Asp)
n.887A>G
c.174A>G (p.Thr58=)
c.157A>G (p.Asn53Asp)
c.130A>G (p.Asn44Asp)
c.175A>G (p.Asn59Asp)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.161854195A>TCA362181524GABRA1c.112A>T (p.Asn38Tyr)
n.887A>T
c.174A>T (p.Thr58=)
c.157A>T (p.Asn53Tyr)
c.130A>T (p.Asn44Tyr)
c.175A>T (p.Asn59Tyr)
 COSMIC
5g.161854196A>CCA362181525GABRA1c.113A>C (p.Asn38Thr)
n.888A>C
c.175A>C (p.Ile59Leu)
c.158A>C (p.Asn53Thr)
c.131A>C (p.Asn44Thr)
c.176A>C (p.Asn59Thr)
5g.161854196A>GCA362181526GABRA1c.113A>G (p.Asn38Ser)
n.888A>G
c.175A>G (p.Ile59Val)
c.158A>G (p.Asn53Ser)
c.131A>G (p.Asn44Ser)
c.176A>G (p.Asn59Ser)
5g.161854196A>TCA362181527GABRA1c.113A>T (p.Asn38Ile)
n.888A>T
c.175A>T (p.Ile59Leu)
c.158A>T (p.Asn53Ile)
c.131A>T (p.Asn44Ile)
c.176A>T (p.Asn59Ile)
5g.161854197T>ACA362181528GABRA1c.114T>A (p.Asn38Lys)
n.889T>A
c.176T>A (p.Ile59Lys)
c.159T>A (p.Asn53Lys)
c.132T>A (p.Asn44Lys)
c.177T>A (p.Asn59Lys)
5g.161854197T>CCA131082510GABRA1c.114T>C (p.Asn38=)
n.889T>C
c.176T>C (p.Ile59Thr)
c.159T>C (p.Asn53=)
c.132T>C (p.Asn44=)
c.177T>C (p.Asn59=)
 dbSNP gnomAD v4
5g.161854197T>GCA362181529GABRA1c.114T>G (p.Asn38Lys)
n.889T>G
c.176T>G (p.Ile59Arg)
c.159T>G (p.Asn53Lys)
c.132T>G (p.Asn44Lys)
c.177T>G (p.Asn59Lys)
5g.161854197T=CA1596214937GABRA1c.114T= (p.Asn38=)
n.889T=
c.176T= (p.Ile59=)
c.159T= (p.Asn53=)
c.132T= (p.Asn44=)
c.177T= (p.Asn59=)
5g.161854198A>CCA362181530GABRA1c.115A>C (p.Thr39Pro)
n.890A>C
c.177A>C (p.Ile59=)
c.160A>C (p.Thr54Pro)
c.133A>C (p.Thr45Pro)
c.178A>C (p.Thr60Pro)
5g.161854198A>GCA362181531GABRA1c.115A>G (p.Thr39Ala)
n.890A>G
c.177A>G (p.Ile59Met)
c.160A>G (p.Thr54Ala)
c.133A>G (p.Thr45Ala)
c.178A>G (p.Thr60Ala)
5g.161854198A>TCA362181532GABRA1c.115A>T (p.Thr39Ser)
n.890A>T
c.177A>T (p.Ile59=)
c.160A>T (p.Thr54Ser)
c.133A>T (p.Thr45Ser)
c.178A>T (p.Thr60Ser)
5g.161854199C>ACA362181533GABRA1c.116C>A (p.Thr39Asn)
n.891C>A
c.178C>A (p.Pro60Thr)
c.161C>A (p.Thr54Asn)
c.134C>A (p.Thr45Asn)
c.179C>A (p.Thr60Asn)
5g.161854199C>GCA362181534GABRA1c.116C>G (p.Thr39Ser)
n.891C>G
c.178C>G (p.Pro60Ala)
c.161C>G (p.Thr54Ser)
c.134C>G (p.Thr45Ser)
c.179C>G (p.Thr60Ser)
5g.161854199C>TCA362181535GABRA1c.116C>T (p.Thr39Ile)
n.891C>T
c.178C>T (p.Pro60Ser)
c.161C>T (p.Thr54Ile)
c.134C>T (p.Thr45Ile)
c.179C>T (p.Thr60Ile)
5g.161854200C>ACA447608796GABRA1c.117C>A (p.Thr39=)
n.892C>A
c.179C>A (p.Pro60Gln)
c.162C>A (p.Thr54=)
c.135C>A (p.Thr45=)
c.180C>A (p.Thr60=)
5g.161854200C=CA1596214939GABRA1c.117C= (p.Thr39=)
n.892C=
c.179C= (p.Pro60=)
c.162C= (p.Thr54=)
c.135C= (p.Thr45=)
c.180C= (p.Thr60=)
5g.161854200C>GCA447608797GABRA1c.117C>G (p.Thr39=)
n.892C>G
c.179C>G (p.Pro60Arg)
c.162C>G (p.Thr54=)
c.135C>G (p.Thr45=)
c.180C>G (p.Thr60=)
 dbSNP gnomAD v2 gnomAD v4
5g.161854200C>TCA447608798GABRA1c.117C>T (p.Thr39=)
n.892C>T
c.179C>T (p.Pro60Leu)
c.162C>T (p.Thr54=)
c.135C>T (p.Thr45=)
c.180C>T (p.Thr60=)
5g.161854201A>CCA362181536GABRA1c.118A>C (p.Thr40Pro)
n.893A>C
c.180A>C (p.Pro60=)
c.163A>C (p.Thr55Pro)
c.136A>C (p.Thr46Pro)
c.181A>C (p.Thr61Pro)
5g.161854201A>GCA362181537GABRA1c.118A>G (p.Thr40Ala)
n.893A>G
c.180A>G (p.Pro60=)
c.163A>G (p.Thr55Ala)
c.136A>G (p.Thr46Ala)
c.181A>G (p.Thr61Ala)
5g.161854201A>TCA362181538GABRA1c.118A>T (p.Thr40Ser)
n.893A>T
c.180A>T (p.Pro60=)
c.163A>T (p.Thr55Ser)
c.136A>T (p.Thr46Ser)
c.181A>T (p.Thr61Ser)
5g.161854202C>ACA362181539GABRA1c.119C>A (p.Thr40Asn)
n.894C>A
c.181C>A (p.Leu61Met)
c.164C>A (p.Thr55Asn)
c.137C>A (p.Thr46Asn)
c.182C>A (p.Thr61Asn)
 gnomAD v4
5g.161854202C=CA1596214942GABRA1c.119C= (p.Thr40=)
n.894C=
c.181C= (p.Leu61=)
c.164C= (p.Thr55=)
c.137C= (p.Thr46=)
c.182C= (p.Thr61=)
5g.161854202C>GCA362181540GABRA1c.119C>G (p.Thr40Ser)
n.894C>G
c.181C>G (p.Leu61Val)
c.164C>G (p.Thr55Ser)
c.137C>G (p.Thr46Ser)
c.182C>G (p.Thr61Ser)
5g.161854202C>TCA362181541GABRA1c.119C>T (p.Thr40Ile)
n.894C>T
c.181C>T (p.Leu61=)
c.164C>T (p.Thr55Ile)
c.137C>T (p.Thr46Ile)
c.182C>T (p.Thr61Ile)
 dbSNP gnomAD v2 gnomAD v4
5g.161854203T>ACA447608799GABRA1c.120T>A (p.Thr40=)
n.895T>A
c.182T>A (p.Leu61Gln)
c.165T>A (p.Thr55=)
c.138T>A (p.Thr46=)
c.183T>A (p.Thr61=)
5g.161854203T>CCA447608800GABRA1c.120T>C (p.Thr40=)
n.895T>C
c.182T>C (p.Leu61Pro)
c.165T>C (p.Thr55=)
c.138T>C (p.Thr46=)
c.183T>C (p.Thr61=)
 gnomAD v4
5g.161854203T>GCA447608801GABRA1c.120T>G (p.Thr40=)
n.895T>G
c.182T>G (p.Leu61Arg)
c.165T>G (p.Thr55=)
c.138T>G (p.Thr46=)
c.183T>G (p.Thr61=)
5g.161854204G>ACA362181542GABRA1c.121G>A (p.Val41Ile)
n.896G>A
c.183G>A (p.Leu61=)
c.166G>A (p.Val56Ile)
c.139G>A (p.Val47Ile)
c.184G>A (p.Val62Ile)
 COSMIC
5g.161854204G>CCA362181544GABRA1c.121G>C (p.Val41Leu)
n.896G>C
c.183G>C (p.Leu61=)
c.166G>C (p.Val56Leu)
c.139G>C (p.Val47Leu)
c.184G>C (p.Val62Leu)
5g.161854204G>TCA362181543GABRA1c.121G>T (p.Val41Phe)
n.896G>T
c.183G>T (p.Leu61=)
c.166G>T (p.Val56Phe)
c.139G>T (p.Val47Phe)
c.184G>T (p.Val62Phe)
5g.161854205T>ACA362181545GABRA1c.122T>A (p.Val41Asp)
n.897T>A
c.184T>A (p.Ser62Thr)
c.167T>A (p.Val56Asp)
c.140T>A (p.Val47Asp)
c.185T>A (p.Val62Asp)
5g.161854205T>CCA362181546GABRA1c.122T>C (p.Val41Ala)
n.897T>C
c.184T>C (p.Ser62Pro)
c.167T>C (p.Val56Ala)
c.140T>C (p.Val47Ala)
c.185T>C (p.Val62Ala)
5g.161854205T>GCA362181547GABRA1c.122T>G (p.Val41Gly)
n.897T>G
c.184T>G (p.Ser62Ala)
c.167T>G (p.Val56Gly)
c.140T>G (p.Val47Gly)
c.185T>G (p.Val62Gly)
5g.161854206C>ACA447608802GABRA1c.123C>A (p.Val41=)
n.898C>A
c.185C>A (p.Ser62Tyr)
c.168C>A (p.Val56=)
c.141C>A (p.Val47=)
c.186C>A (p.Val62=)
 gnomAD v4
5g.161854206C>GCA447608803GABRA1c.123C>G (p.Val41=)
n.898C>G
c.185C>G (p.Ser62Cys)
c.168C>G (p.Val56=)
c.141C>G (p.Val47=)
c.186C>G (p.Val62=)
5g.161854206C>TCA447608804GABRA1c.123C>T (p.Val41=)
n.898C>T
c.185C>T (p.Ser62Phe)
c.168C>T (p.Val56=)
c.141C>T (p.Val47=)
c.186C>T (p.Val62=)
5g.161854207T>ACA362181548GABRA1c.124T>A (p.Phe42Ile)
n.899T>A
c.186T>A (p.Ser62=)
c.169T>A (p.Phe57Ile)
c.142T>A (p.Phe48Ile)
c.187T>A (p.Phe63Ile)
5g.161854207T>CCA362181549GABRA1c.124T>C (p.Phe42Leu)
n.899T>C
c.186T>C (p.Ser62=)
c.169T>C (p.Phe57Leu)
c.142T>C (p.Phe48Leu)
c.187T>C (p.Phe63Leu)
 ClinVar dbSNP
5g.161854207T>GCA362181550GABRA1c.124T>G (p.Phe42Val)
n.899T>G
c.186T>G (p.Ser62=)
c.169T>G (p.Phe57Val)
c.142T>G (p.Phe48Val)
c.187T>G (p.Phe63Val)
5g.161854208T>ACA362181553GABRA1c.125T>A (p.Phe42Tyr)
n.900T>A
c.187T>A (p.Ser63Thr)
c.170T>A (p.Phe57Tyr)
c.143T>A (p.Phe48Tyr)
c.188T>A (p.Phe63Tyr)
5g.161854208T>CCA362181551GABRA1c.125T>C (p.Phe42Ser)
n.900T>C
c.187T>C (p.Ser63Pro)
c.170T>C (p.Phe57Ser)
c.143T>C (p.Phe48Ser)
c.188T>C (p.Phe63Ser)
5g.161854208T>GCA362181552GABRA1c.125T>G (p.Phe42Cys)
n.900T>G
c.187T>G (p.Ser63Ala)
c.170T>G (p.Phe57Cys)
c.143T>G (p.Phe48Cys)
c.188T>G (p.Phe63Cys)
5g.161854209C>ACA362181554GABRA1c.126C>A (p.Phe42Leu)
n.901C>A
c.188C>A (p.Ser63Ter)
c.171C>A (p.Phe57Leu)
c.144C>A (p.Phe48Leu)
c.189C>A (p.Phe63Leu)
5g.161854209C>GCA362181555GABRA1c.126C>G (p.Phe42Leu)
n.901C>G
c.188C>G (p.Ser63Ter)
c.171C>G (p.Phe57Leu)
c.144C>G (p.Phe48Leu)
c.189C>G (p.Phe63Leu)
5g.161854209C>TCA447608805GABRA1c.126C>T (p.Phe42=)
n.901C>T
c.188C>T (p.Ser63Leu)
c.171C>T (p.Phe57=)
c.144C>T (p.Phe48=)
c.189C>T (p.Phe63=)
 COSMIC
5g.161854210A>CCA362181556GABRA1c.127A>C (p.Thr43Pro)
n.902A>C
c.189A>C (p.Ser63=)
c.172A>C (p.Thr58Pro)
c.145A>C (p.Thr49Pro)
c.190A>C (p.Thr64Pro)
5g.161854210A>GCA362181557GABRA1c.127A>G (p.Thr43Ala)
n.902A>G
c.189A>G (p.Ser63=)
c.172A>G (p.Thr58Ala)
c.145A>G (p.Thr49Ala)
c.190A>G (p.Thr64Ala)
5g.161854210A>TCA362181558GABRA1c.127A>T (p.Thr43Ser)
n.902A>T
c.189A>T (p.Ser63=)
c.172A>T (p.Thr58Ser)
c.145A>T (p.Thr49Ser)
c.190A>T (p.Thr64Ser)
5g.161854211C>ACA362181559GABRA1c.128C>A (p.Thr43Asn)
n.903C>A
c.190C>A (p.Pro64Thr)
c.173C>A (p.Thr58Asn)
c.146C>A (p.Thr49Asn)
c.191C>A (p.Thr64Asn)
 dbSNP
5g.161854211C=CA1596214944GABRA1c.128C= (p.Thr43=)
n.903C=
c.190C= (p.Pro64=)
c.173C= (p.Thr58=)
c.146C= (p.Thr49=)
c.191C= (p.Thr64=)
5g.161854211C>GCA362181561GABRA1c.128C>G (p.Thr43Ser)
n.903C>G
c.190C>G (p.Pro64Ala)
c.173C>G (p.Thr58Ser)
c.146C>G (p.Thr49Ser)
c.191C>G (p.Thr64Ser)
5g.161854211C>TCA362181560GABRA1c.128C>T (p.Thr43Ile)
n.903C>T
c.190C>T (p.Pro64Ser)
c.173C>T (p.Thr58Ile)
c.146C>T (p.Thr49Ile)
c.191C>T (p.Thr64Ile)
 COSMIC
5g.161854212delCA2676321531GABRA1c.129del (p.Arg44GlyfsTer7)
n.904del
c.191del (p.Pro64GlnfsTer11)
c.174del (p.Arg59GlyfsTer7)
c.147del (p.Arg50GlyfsTer7)
c.192del (p.Arg65GlyfsTer7)
 gnomAD v4
5g.161854212C>ACA447608806GABRA1c.129C>A (p.Thr43=)
n.904C>A
c.191C>A (p.Pro64Gln)
c.174C>A (p.Thr58=)
c.147C>A (p.Thr49=)
c.192C>A (p.Thr64=)
5g.161854212C>GCA447608807GABRA1c.129C>G (p.Thr43=)
n.904C>G
c.191C>G (p.Pro64Arg)
c.174C>G (p.Thr58=)
c.147C>G (p.Thr49=)
c.192C>G (p.Thr64=)
5g.161854212C>TCA447608808GABRA1c.129C>T (p.Thr43=)
n.904C>T
c.191C>T (p.Pro64Leu)
c.174C>T (p.Thr58=)
c.147C>T (p.Thr49=)
c.192C>T (p.Thr64=)
 gnomAD v4
5g.161854213A>CCA447608809GABRA1c.130A>C (p.Arg44=)
n.905A>C
c.192A>C (p.Pro64=)
c.175A>C (p.Arg59=)
c.148A>C (p.Arg50=)
c.193A>C (p.Arg65=)
5g.161854213A>GCA362181562GABRA1c.130A>G (p.Arg44Gly)
n.905A>G
c.192A>G (p.Pro64=)
c.175A>G (p.Arg59Gly)
c.148A>G (p.Arg50Gly)
c.193A>G (p.Arg65Gly)
5g.161854213A>TCA362181563GABRA1c.130A>T (p.Arg44Trp)
n.905A>T
c.192A>T (p.Pro64=)
c.175A>T (p.Arg59Trp)
c.148A>T (p.Arg50Trp)
c.193A>T (p.Arg65Trp)
5g.161854214G>ACA362181564GABRA1c.131G>A (p.Arg44Lys)
n.906G>A
c.193G>A (p.Gly65Arg)
c.176G>A (p.Arg59Lys)
c.149G>A (p.Arg50Lys)
c.194G>A (p.Arg65Lys)
5g.161854214G>CCA362181565GABRA1c.131G>C (p.Arg44Thr)
n.906G>C
c.193G>C (p.Gly65Arg)
c.176G>C (p.Arg59Thr)
c.149G>C (p.Arg50Thr)
c.194G>C (p.Arg65Thr)
5g.161854214G>TCA362181566GABRA1c.131G>T (p.Arg44Met)
n.906G>T
c.193G>T (p.Gly65Ter)
c.176G>T (p.Arg59Met)
c.149G>T (p.Arg50Met)
c.194G>T (p.Arg65Met)
5g.161854215G>ACA447608810GABRA1c.132G>A (p.Arg44=)
n.907G>A
c.194G>A (p.Gly65Glu)
c.177G>A (p.Arg59=)
c.150G>A (p.Arg50=)
c.195G>A (p.Arg65=)
5g.161854215G>CCA362181567GABRA1c.132G>C (p.Arg44Ser)
n.907G>C
c.194G>C (p.Gly65Ala)
c.177G>C (p.Arg59Ser)
c.150G>C (p.Arg50Ser)
c.195G>C (p.Arg65Ser)
5g.161854215G>TCA362181568GABRA1c.132G>T (p.Arg44Ser)
n.907G>T
c.194G>T (p.Gly65Val)
c.177G>T (p.Arg59Ser)
c.150G>T (p.Arg50Ser)
c.195G>T (p.Arg65Ser)
 dbSNP
5g.161854216A>CCA362181569GABRA1c.133A>C (p.Ile45Leu)
n.908A>C
c.195A>C (p.Gly65=)
c.178A>C (p.Ile60Leu)
c.151A>C (p.Ile51Leu)
c.196A>C (p.Ile66Leu)
5g.161854216A>GCA362181570GABRA1c.133A>G (p.Ile45Val)
n.908A>G
c.195A>G (p.Gly65=)
c.178A>G (p.Ile60Val)
c.151A>G (p.Ile51Val)
c.196A>G (p.Ile66Val)
5g.161854216A>TCA362181571GABRA1c.133A>T (p.Ile45Phe)
n.908A>T
c.195A>T (p.Gly65=)
c.178A>T (p.Ile60Phe)
c.151A>T (p.Ile51Phe)
c.196A>T (p.Ile66Phe)
5g.161854217T>ACA362181572GABRA1c.134T>A (p.Ile45Asn)
n.909T>A
c.196T>A (p.Phe66Ile)
c.179T>A (p.Ile60Asn)
c.152T>A (p.Ile51Asn)
c.197T>A (p.Ile66Asn)
5g.161854217T>CCA362181574GABRA1c.134T>C (p.Ile45Thr)
n.909T>C
c.196T>C (p.Phe66Leu)
c.179T>C (p.Ile60Thr)
c.152T>C (p.Ile51Thr)
c.197T>C (p.Ile66Thr)
 ClinVar
5g.161854217T>GCA362181573GABRA1c.134T>G (p.Ile45Ser)
n.909T>G
c.196T>G (p.Phe66Val)
c.179T>G (p.Ile60Ser)
c.152T>G (p.Ile51Ser)
c.197T>G (p.Ile66Ser)
5g.161854220delCA2676321536GABRA1c.137del (p.Leu46TrpfsTer5)
n.912del
c.199del (p.Trp67GlyfsTer8)
c.182del (p.Leu61TrpfsTer5)
c.155del (p.Leu52TrpfsTer5)
c.200del (p.Leu67TrpfsTer5)
 gnomAD v4
5g.161854218T>ACA447608811GABRA1c.135T>A (p.Ile45=)
n.910T>A
c.197T>A (p.Phe66Tyr)
c.180T>A (p.Ile60=)
c.153T>A (p.Ile51=)
c.198T>A (p.Ile66=)
5g.161854218T>CCA447608812GABRA1c.135T>C (p.Ile45=)
n.910T>C
c.197T>C (p.Phe66Ser)
c.180T>C (p.Ile60=)
c.153T>C (p.Ile51=)
c.198T>C (p.Ile66=)
5g.161854218T>GCA362181575GABRA1c.135T>G (p.Ile45Met)
n.910T>G
c.197T>G (p.Phe66Cys)
c.180T>G (p.Ile60Met)
c.153T>G (p.Ile51Met)
c.198T>G (p.Ile66Met)
5g.161854219T>ACA362181577GABRA1c.136T>A (p.Leu46Met)
n.911T>A
c.198T>A (p.Phe66Leu)
c.181T>A (p.Leu61Met)
c.154T>A (p.Leu52Met)
c.199T>A (p.Leu67Met)
5g.161854219T>CCA447608813GABRA1c.136T>C (p.Leu46=)
n.911T>C
c.198T>C (p.Phe66=)
c.181T>C (p.Leu61=)
c.154T>C (p.Leu52=)
c.199T>C (p.Leu67=)
5g.161854219T>GCA362181576GABRA1c.136T>G (p.Leu46Val)
n.911T>G
c.198T>G (p.Phe66Leu)
c.181T>G (p.Leu61Val)
c.154T>G (p.Leu52Val)
c.199T>G (p.Leu67Val)
5g.161854220T>ACA362181580GABRA1c.137T>A (p.Leu46Ter)
n.912T>A
c.199T>A (p.Trp67Arg)
c.182T>A (p.Leu61Ter)
c.155T>A (p.Leu52Ter)
c.200T>A (p.Leu67Ter)
5g.161854220T>CCA362181578GABRA1c.137T>C (p.Leu46Ser)
n.912T>C
c.199T>C (p.Trp67Arg)
c.182T>C (p.Leu61Ser)
c.155T>C (p.Leu52Ser)
c.200T>C (p.Leu67Ser)
5g.161854220T>GCA362181579GABRA1c.137T>G (p.Leu46Trp)
n.912T>G
c.199T>G (p.Trp67Gly)
c.182T>G (p.Leu61Trp)
c.155T>G (p.Leu52Trp)
c.200T>G (p.Leu67Trp)
5g.161854221G>ACA447608814GABRA1c.138G>A (p.Leu46=)
n.913G>A
c.200G>A (p.Trp67Ter)
c.183G>A (p.Leu61=)
c.156G>A (p.Leu52=)
c.201G>A (p.Leu67=)
 COSMIC
5g.161854221G>CCA362181581GABRA1c.138G>C (p.Leu46Phe)
n.913G>C
c.200G>C (p.Trp67Ser)
c.183G>C (p.Leu61Phe)
c.156G>C (p.Leu52Phe)
c.201G>C (p.Leu67Phe)
5g.161854221G>TCA362181582GABRA1c.138G>T (p.Leu46Phe)
n.913G>T
c.200G>T (p.Trp67Leu)
c.183G>T (p.Leu61Phe)
c.156G>T (p.Leu52Phe)
c.201G>T (p.Leu67Phe)
 ClinVar
5g.161854222G>ACA362181583GABRA1c.139G>A (p.Asp47Asn)
n.914G>A
c.201G>A (p.Trp67Ter)
c.184G>A (p.Asp62Asn)
c.157G>A (p.Asp53Asn)
c.202G>A (p.Asp68Asn)
5g.161854222G>CCA362181584GABRA1c.139G>C (p.Asp47His)
n.914G>C
c.201G>C (p.Trp67Cys)
c.184G>C (p.Asp62His)
c.157G>C (p.Asp53His)
c.202G>C (p.Asp68His)
5g.161854222G>TCA362181585GABRA1c.139G>T (p.Asp47Tyr)
n.914G>T
c.201G>T (p.Trp67Cys)
c.184G>T (p.Asp62Tyr)
c.157G>T (p.Asp53Tyr)
c.202G>T (p.Asp68Tyr)
5g.161854223A=CA1596214947GABRA1c.140A= (p.Asp47=)
n.915A=
c.202A= (p.Thr68=)
c.185A= (p.Asp62=)
c.158A= (p.Asp53=)
c.203A= (p.Asp68=)
5g.161854223A>CCA362181586GABRA1c.140A>C (p.Asp47Ala)
n.915A>C
c.202A>C (p.Thr68Pro)
c.185A>C (p.Asp62Ala)
c.158A>C (p.Asp53Ala)
c.203A>C (p.Asp68Ala)
5g.161854223A>GCA362181588GABRA1c.140A>G (p.Asp47Gly)
n.915A>G
c.202A>G (p.Thr68Ala)
c.185A>G (p.Asp62Gly)
c.158A>G (p.Asp53Gly)
c.203A>G (p.Asp68Gly)
 dbSNP
5g.161854223A>TCA362181587GABRA1c.140A>T (p.Asp47Val)
n.915A>T
c.202A>T (p.Thr68Ser)
c.185A>T (p.Asp62Val)
c.158A>T (p.Asp53Val)
c.203A>T (p.Asp68Val)
5g.161854224C>ACA362181589GABRA1c.141C>A (p.Asp47Glu)
n.916C>A
c.203C>A (p.Thr68Lys)
c.186C>A (p.Asp62Glu)
c.159C>A (p.Asp53Glu)
c.204C>A (p.Asp68Glu)
 gnomAD v4
5g.161854224C>GCA362181590GABRA1c.141C>G (p.Asp47Glu)
n.916C>G
c.203C>G (p.Thr68Arg)
c.186C>G (p.Asp62Glu)
c.159C>G (p.Asp53Glu)
c.204C>G (p.Asp68Glu)
5g.161854224C>TCA447608815GABRA1c.141C>T (p.Asp47=)
n.916C>T
c.203C>T (p.Thr68Ile)
c.186C>T (p.Asp62=)
c.159C>T (p.Asp53=)
c.204C>T (p.Asp68=)
5g.161854225A=CA1596214948GABRA1c.142A= (p.Arg48=)
n.917A=
c.204A= (p.Thr68=)
c.187A= (p.Arg63=)
c.160A= (p.Arg54=)
c.205A= (p.Arg69=)
5g.161854225A>CCA447608816GABRA1c.142A>C (p.Arg48=)
n.917A>C
c.204A>C (p.Thr68=)
c.187A>C (p.Arg63=)
c.160A>C (p.Arg54=)
c.205A>C (p.Arg69=)
5g.161854225A>GCA362181591GABRA1c.142A>G (p.Arg48Gly)
n.917A>G
c.204A>G (p.Thr68=)
c.187A>G (p.Arg63Gly)
c.160A>G (p.Arg54Gly)
c.205A>G (p.Arg69Gly)
 dbSNP gnomAD v2
5g.161854225A>TCA362181592GABRA1c.142A>T (p.Arg48Ter)
n.917A>T
c.204A>T (p.Thr68=)
c.187A>T (p.Arg63Ter)
c.160A>T (p.Arg54Ter)
c.205A>T (p.Arg69Ter)
5g.161854226G>ACA362181593GABRA1c.143G>A (p.Arg48Lys)
n.918G>A
c.205G>A (p.Asp69Asn)
c.188G>A (p.Arg63Lys)
c.161G>A (p.Arg54Lys)
c.206G>A (p.Arg69Lys)
5g.161854226G>CCA362181595GABRA1c.143G>C (p.Arg48Thr)
n.918G>C
c.205G>C (p.Asp69His)
c.188G>C (p.Arg63Thr)
c.161G>C (p.Arg54Thr)
c.206G>C (p.Arg69Thr)
 gnomAD v4
5g.161854226G>TCA362181594GABRA1c.143G>T (p.Arg48Ile)
n.918G>T
c.205G>T (p.Asp69Tyr)
c.188G>T (p.Arg63Ile)
c.161G>T (p.Arg54Ile)
c.206G>T (p.Arg69Ile)
 gnomAD v4
5g.161854227A>CCA362181596GABRA1c.144A>C (p.Arg48Ser)
n.919A>C
c.206A>C (p.Asp69Ala)
c.189A>C (p.Arg63Ser)
c.162A>C (p.Arg54Ser)
c.207A>C (p.Arg69Ser)
5g.161854227A>GCA447608817GABRA1c.144A>G (p.Arg48=)
n.919A>G
c.206A>G (p.Asp69Gly)
c.189A>G (p.Arg63=)
c.162A>G (p.Arg54=)
c.207A>G (p.Arg69=)
5g.161854227A>TCA362181597GABRA1c.144A>T (p.Arg48Ser)
n.919A>T
c.206A>T (p.Asp69Val)
c.189A>T (p.Arg63Ser)
c.162A>T (p.Arg54Ser)
c.207A>T (p.Arg69Ser)
5g.161854228C>ACA362181598GABRA1c.145C>A (p.Leu49Ile)
n.920C>A
c.207C>A (p.Asp69Glu)
c.190C>A (p.Leu64Ile)
c.163C>A (p.Leu55Ile)
c.208C>A (p.Leu70Ile)
5g.161854228C>GCA362181599GABRA1c.145C>G (p.Leu49Val)
n.920C>G
c.207C>G (p.Asp69Glu)
c.190C>G (p.Leu64Val)
c.163C>G (p.Leu55Val)
c.208C>G (p.Leu70Val)
5g.161854228C>TCA362181600GABRA1c.145C>T (p.Leu49Phe)
n.920C>T
c.207C>T (p.Asp69=)
c.190C>T (p.Leu64Phe)
c.163C>T (p.Leu55Phe)
c.208C>T (p.Leu70Phe)
5g.161854229T>ACA362181601GABRA1c.146T>A (p.Leu49His)
n.921T>A
c.208T>A (p.Ser70Thr)
c.191T>A (p.Leu64His)
c.164T>A (p.Leu55His)
c.209T>A (p.Leu70His)
 ClinVar
5g.161854229T>CCA362181602GABRA1c.146T>C (p.Leu49Pro)
n.921T>C
c.208T>C (p.Ser70Pro)
c.191T>C (p.Leu64Pro)
c.164T>C (p.Leu55Pro)
c.209T>C (p.Leu70Pro)
5g.161854229T>GCA362181603GABRA1c.146T>G (p.Leu49Arg)
n.921T>G
c.208T>G (p.Ser70Ala)
c.191T>G (p.Leu64Arg)
c.164T>G (p.Leu55Arg)
c.209T>G (p.Leu70Arg)
5g.161854230C>ACA447608818GABRA1c.147C>A (p.Leu49=)
n.922C>A
c.209C>A (p.Ser70Tyr)
c.192C>A (p.Leu64=)
c.165C>A (p.Leu55=)
c.210C>A (p.Leu70=)
 ClinVar dbSNP gnomAD v4
5g.161854230C>GCA447608819GABRA1c.147C>G (p.Leu49=)
n.922C>G
c.209C>G (p.Ser70Cys)
c.192C>G (p.Leu64=)
c.165C>G (p.Leu55=)
c.210C>G (p.Leu70=)
5g.161854230C>TCA447608820GABRA1c.147C>T (p.Leu49=)
n.922C>T
c.209C>T (p.Ser70Phe)
c.192C>T (p.Leu64=)
c.165C>T (p.Leu55=)
c.210C>T (p.Leu70=)
5g.161854231C>ACA362181604GABRA1c.148C>A (p.Leu50Ile)
n.923C>A
c.210C>A (p.Ser70=)
c.193C>A (p.Leu65Ile)
c.166C>A (p.Leu56Ile)
c.211C>A (p.Leu71Ile)
5g.161854231C>GCA362181605GABRA1c.148C>G (p.Leu50Val)
n.923C>G
c.210C>G (p.Ser70=)
c.193C>G (p.Leu65Val)
c.166C>G (p.Leu56Val)
c.211C>G (p.Leu71Val)
5g.161854231C>TCA447608821GABRA1c.148C>T (p.Leu50=)
n.923C>T
c.210C>T (p.Ser70=)
c.193C>T (p.Leu65=)
c.166C>T (p.Leu56=)
c.211C>T (p.Leu71=)
 ClinVar dbSNP gnomAD v4 COSMIC
5g.161854232delCA2676321541GABRA1c.149del (p.Leu50GlnfsTer8)
n.924del
c.211del (p.Ter71ArgextTer4)
c.194del (p.Leu65GlnfsTer8)
c.167del (p.Leu56GlnfsTer8)
c.212del (p.Leu71GlnfsTer8)
 gnomAD v4
5g.161854232T>ACA362181608GABRA1c.149T>A (p.Leu50Gln)
n.924T>A
c.211T>A (p.Ter71Lys)
c.194T>A (p.Leu65Gln)
c.167T>A (p.Leu56Gln)
c.212T>A (p.Leu71Gln)
5g.161854232T>CCA362181607GABRA1c.149T>C (p.Leu50Pro)
n.924T>C
c.211T>C (p.Ter71Gln)
c.194T>C (p.Leu65Pro)
c.167T>C (p.Leu56Pro)
c.212T>C (p.Leu71Pro)
5g.161854232T>GCA362181606GABRA1c.149T>G (p.Leu50Arg)
n.924T>G
c.211T>G (p.Ter71Glu)
c.194T>G (p.Leu65Arg)
c.167T>G (p.Leu56Arg)
c.212T>G (p.Leu71Arg)
5g.161854233A=CA1596214953GABRA1c.150A= (p.Leu50=)
n.925A=
c.212A= (p.Ter71=)
c.195A= (p.Leu65=)
c.168A= (p.Leu56=)
c.213A= (p.Leu71=)
5g.161854233A>CCA447608822GABRA1c.150A>C (p.Leu50=)
n.925A>C
c.212A>C (p.Ter71Ser)
c.195A>C (p.Leu65=)
c.168A>C (p.Leu56=)
c.213A>C (p.Leu71=)
5g.161854233A>GCA131082511GABRA1c.150A>G (p.Leu50=)
n.925A>G
c.212A>G (p.Ter71Trp)
c.195A>G (p.Leu65=)
c.168A>G (p.Leu56=)
c.213A>G (p.Leu71=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.161854233A>TCA447608823GABRA1c.150A>T (p.Leu50=)
n.925A>T
c.212A>T (p.Ter71Leu)
c.195A>T (p.Leu65=)
c.168A>T (p.Leu56=)
c.213A>T (p.Leu71=)
 dbSNP
5g.161854234G>ACA362181609GABRA1c.151G>A (p.Asp51Asn)
n.926G>A
c.213G>A (p.Ter71=)
c.196G>A (p.Asp66Asn)
c.169G>A (p.Asp57Asn)
c.214G>A (p.Asp72Asn)
5g.161854234G>CCA362181610GABRA1c.151G>C (p.Asp51His)
n.926G>C
c.213G>C (p.Ter71Tyr)
c.196G>C (p.Asp66His)
c.169G>C (p.Asp57His)
c.214G>C (p.Asp72His)
5g.161854234G>TCA362181611GABRA1c.151G>T (p.Asp51Tyr)
n.926G>T
c.213G>T (p.Ter71Tyr)
c.196G>T (p.Asp66Tyr)
c.169G>T (p.Asp57Tyr)
c.214G>T (p.Asp72Tyr)
 gnomAD v4
5g.161854235A=CA1596214959GABRA1c.152A= (p.Asp51=)
n.927A=
c.*1A= (n.*1A=)
c.197A= (p.Asp66=)
c.170A= (p.Asp57=)
c.215A= (p.Asp72=)
5g.161854235A>CCA362181612GABRA1c.152A>C (p.Asp51Ala)
n.927A>C
c.*1A>C (n.*1A>C)
c.197A>C (p.Asp66Ala)
c.170A>C (p.Asp57Ala)
c.215A>C (p.Asp72Ala)
5g.161854235A>GCA3544343GABRA1c.152A>G (p.Asp51Gly)
n.927A>G
c.*1A>G (n.*1A>G)
c.197A>G (p.Asp66Gly)
c.170A>G (p.Asp57Gly)
c.215A>G (p.Asp72Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.161854235A>TCA362181613GABRA1c.152A>T (p.Asp51Val)
n.927A>T
c.*1A>T (n.*1A>T)
c.197A>T (p.Asp66Val)
c.170A>T (p.Asp57Val)
c.215A>T (p.Asp72Val)
5g.161854236T>ACA362181614GABRA1c.153T>A (p.Asp51Glu)
n.928T>A
c.*2T>A (n.*2T>A)
c.198T>A (p.Asp66Glu)
c.171T>A (p.Asp57Glu)
c.216T>A (p.Asp72Glu)
 gnomAD v4
5g.161854236T>CCA447608824GABRA1c.153T>C (p.Asp51=)
n.928T>C
c.*2T>C (n.*2T>C)
c.198T>C (p.Asp66=)
c.171T>C (p.Asp57=)
c.216T>C (p.Asp72=)
 ClinVar
5g.161854236T>GCA362181615GABRA1c.153T>G (p.Asp51Glu)
n.928T>G
c.*2T>G (n.*2T>G)
c.198T>G (p.Asp66Glu)
c.171T>G (p.Asp57Glu)
c.216T>G (p.Asp72Glu)
5g.161854237G>ACA362181616GABRA1c.154G>A (p.Gly52Ser)
n.929G>A
c.*3G>A (n.*3G>A)
c.199G>A (p.Gly67Ser)
c.172G>A (p.Gly58Ser)
c.217G>A (p.Gly73Ser)
5g.161854237G>CCA362181617GABRA1c.154G>C (p.Gly52Arg)
n.929G>C
c.*3G>C (n.*3G>C)
c.199G>C (p.Gly67Arg)
c.172G>C (p.Gly58Arg)
c.217G>C (p.Gly73Arg)
5g.161854237G>TCA362181618GABRA1c.154G>T (p.Gly52Cys)
n.929G>T
c.*3G>T (n.*3G>T)
c.199G>T (p.Gly67Cys)
c.172G>T (p.Gly58Cys)
c.217G>T (p.Gly73Cys)
 gnomAD v4
5g.161854238G>ACA362181619GABRA1c.155G>A (p.Gly52Asp)
n.930G>A
c.*4G>A (n.*4G>A)
c.200G>A (p.Gly67Asp)
c.173G>A (p.Gly58Asp)
c.218G>A (p.Gly73Asp)
5g.161854238G>CCA362181620GABRA1c.155G>C (p.Gly52Ala)
n.930G>C
c.*4G>C (n.*4G>C)
c.200G>C (p.Gly67Ala)
c.173G>C (p.Gly58Ala)
c.218G>C (p.Gly73Ala)
 gnomAD v4
5g.161854238G>TCA362181621GABRA1c.155G>T (p.Gly52Val)
n.930G>T
c.*4G>T (n.*4G>T)
c.200G>T (p.Gly67Val)
c.173G>T (p.Gly58Val)
c.218G>T (p.Gly73Val)
5g.161854239T>ACA447608825GABRA1c.156T>A (p.Gly52=)
n.931T>A
c.*5T>A (n.*5T>A)
c.201T>A (p.Gly67=)
c.174T>A (p.Gly58=)
c.219T>A (p.Gly73=)
 gnomAD v4
5g.161854239T>CCA152923GABRA1c.156T>C (p.Gly52=)
n.931T>C
c.*5T>C (n.*5T>C)
c.201T>C (p.Gly67=)
c.174T>C (p.Gly58=)
c.219T>C (p.Gly73=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.161854239T>GCA447608826GABRA1c.156T>G (p.Gly52=)
n.931T>G
c.*5T>G (n.*5T>G)
c.201T>G (p.Gly67=)
c.174T>G (p.Gly58=)
c.219T>G (p.Gly73=)
 dbSNP
5g.161854239T=CA1596214967GABRA1c.156T= (p.Gly52=)
n.931T=
c.*5T= (n.*5T=)
c.201T= (p.Gly67=)
c.174T= (p.Gly58=)
c.219T= (p.Gly73=)
5g.161854239_161854240insCCA2676321542GABRA1c.156_157insC (p.Tyr53LeufsTer2)
n.931_932insC
c.*5_*6insC (n.*5_*6insC)
c.201_202insC (p.Tyr68LeufsTer2)
c.174_175insC (p.Tyr59LeufsTer2)
c.219_220insC (p.Tyr74LeufsTer2)
 gnomAD v4
5g.161854240T>ACA362181622GABRA1c.157T>A (p.Tyr53Asn)
n.932T>A
c.*6T>A (n.*6T>A)
c.202T>A (p.Tyr68Asn)
c.175T>A (p.Tyr59Asn)
c.220T>A (p.Tyr74Asn)
5g.161854240T>CCA362181623GABRA1c.157T>C (p.Tyr53His)
n.932T>C
c.*6T>C (n.*6T>C)
c.202T>C (p.Tyr68His)
c.175T>C (p.Tyr59His)
c.220T>C (p.Tyr74His)
5g.161854240T>GCA362181624GABRA1c.157T>G (p.Tyr53Asp)
n.932T>G
c.*6T>G (n.*6T>G)
c.202T>G (p.Tyr68Asp)
c.175T>G (p.Tyr59Asp)
c.220T>G (p.Tyr74Asp)
5g.161854241A>CCA362181625GABRA1c.158A>C (p.Tyr53Ser)
n.933A>C
c.*7A>C (n.*7A>C)
c.203A>C (p.Tyr68Ser)
c.176A>C (p.Tyr59Ser)
c.221A>C (p.Tyr74Ser)
5g.161854241A>GCA362181626GABRA1c.158A>G (p.Tyr53Cys)
n.933A>G
c.*7A>G (n.*7A>G)
c.203A>G (p.Tyr68Cys)
c.176A>G (p.Tyr59Cys)
c.221A>G (p.Tyr74Cys)
 gnomAD v4
5g.161854241A>TCA362181627GABRA1c.158A>T (p.Tyr53Phe)
n.933A>T
c.*7A>T (n.*7A>T)
c.203A>T (p.Tyr68Phe)
c.176A>T (p.Tyr59Phe)
c.221A>T (p.Tyr74Phe)
5g.161854242T>ACA362181628GABRA1c.159T>A (p.Tyr53Ter)
n.934T>A
c.*8T>A (n.*8T>A)
c.204T>A (p.Tyr68Ter)
c.177T>A (p.Tyr59Ter)
c.222T>A (p.Tyr74Ter)
5g.161854242T>CCA3544344GABRA1c.159T>C (p.Tyr53=)
n.934T>C
c.*8T>C (n.*8T>C)
c.204T>C (p.Tyr68=)
c.177T>C (p.Tyr59=)
c.222T>C (p.Tyr74=)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.161854242T>GCA362181629GABRA1c.159T>G (p.Tyr53Ter)
n.934T>G
c.*8T>G (n.*8T>G)
c.204T>G (p.Tyr68Ter)
c.177T>G (p.Tyr59Ter)
c.222T>G (p.Tyr74Ter)
5g.161854242T=CA1596214971GABRA1c.159T= (p.Tyr53=)
n.934T=
c.*8T= (n.*8T=)
c.204T= (p.Tyr68=)
c.177T= (p.Tyr59=)
c.222T= (p.Tyr74=)
5g.161854243G>ACA362181630GABRA1c.160G>A (p.Asp54Asn)
n.935G>A
c.*9G>A (n.*9G>A)
c.205G>A (p.Asp69Asn)
c.178G>A (p.Asp60Asn)
c.223G>A (p.Asp75Asn)
5g.161854243G>CCA362181631GABRA1c.160G>C (p.Asp54His)
n.935G>C
c.*9G>C (n.*9G>C)
c.205G>C (p.Asp69His)
c.178G>C (p.Asp60His)
c.223G>C (p.Asp75His)
5g.161854243G>TCA362181632GABRA1c.160G>T (p.Asp54Tyr)
n.935G>T
c.*9G>T (n.*9G>T)
c.205G>T (p.Asp69Tyr)
c.178G>T (p.Asp60Tyr)
c.223G>T (p.Asp75Tyr)
5g.161854244A>CCA362181635GABRA1c.161A>C (p.Asp54Ala)
n.936A>C
c.*10A>C (n.*10A>C)
c.206A>C (p.Asp69Ala)
c.179A>C (p.Asp60Ala)
c.224A>C (p.Asp75Ala)
5g.161854244A>GCA362181634GABRA1c.161A>G (p.Asp54Gly)
n.936A>G
c.*10A>G (n.*10A>G)
c.206A>G (p.Asp69Gly)
c.179A>G (p.Asp60Gly)
c.224A>G (p.Asp75Gly)
5g.161854244A>TCA362181633GABRA1c.161A>T (p.Asp54Val)
n.936A>T
c.*10A>T (n.*10A>T)
c.206A>T (p.Asp69Val)
c.179A>T (p.Asp60Val)
c.224A>T (p.Asp75Val)
5g.161854245C>ACA362181636GABRA1c.162C>A (p.Asp54Glu)
n.937C>A
c.*11C>A (n.*11C>A)
c.207C>A (p.Asp69Glu)
c.180C>A (p.Asp60Glu)
c.225C>A (p.Asp75Glu)
 gnomAD v4
5g.161854245C>GCA362181637GABRA1c.162C>G (p.Asp54Glu)
n.937C>G
c.*11C>G (n.*11C>G)
c.207C>G (p.Asp69Glu)
c.180C>G (p.Asp60Glu)
c.225C>G (p.Asp75Glu)
5g.161854245C>TCA447608827GABRA1c.162C>T (p.Asp54=)
n.937C>T
c.*11C>T (n.*11C>T)
c.207C>T (p.Asp69=)
c.180C>T (p.Asp60=)
c.225C>T (p.Asp75=)
5g.161854246A>CCA362181638GABRA1c.163A>C (p.Asn55His)
n.938A>C
c.*12A>C (n.*12A>C)
c.208A>C (p.Asn70His)
c.181A>C (p.Asn61His)
c.226A>C (p.Asn76His)
5g.161854246A>GCA362181639GABRA1c.163A>G (p.Asn55Asp)
n.938A>G
c.*12A>G (n.*12A>G)
c.208A>G (p.Asn70Asp)
c.181A>G (p.Asn61Asp)
c.226A>G (p.Asn76Asp)
5g.161854246A>TCA362181640GABRA1c.163A>T (p.Asn55Tyr)
n.938A>T
c.*12A>T (n.*12A>T)
c.208A>T (p.Asn70Tyr)
c.181A>T (p.Asn61Tyr)
c.226A>T (p.Asn76Tyr)
5g.161854247A>CCA362181641GABRA1c.164A>C (p.Asn55Thr)
n.939A>C
c.*13A>C (n.*13A>C)
c.209A>C (p.Asn70Thr)
c.182A>C (p.Asn61Thr)
c.227A>C (p.Asn76Thr)
5g.161854247A>GCA362181642GABRA1c.164A>G (p.Asn55Ser)
n.939A>G
c.*13A>G (n.*13A>G)
c.209A>G (p.Asn70Ser)
c.182A>G (p.Asn61Ser)
c.227A>G (p.Asn76Ser)
5g.161854247A>TCA362181643GABRA1c.164A>T (p.Asn55Ile)
n.939A>T
c.*13A>T (n.*13A>T)
c.209A>T (p.Asn70Ile)
c.182A>T (p.Asn61Ile)
c.227A>T (p.Asn76Ile)
5g.161854248T>ACA362181644GABRA1c.165T>A (p.Asn55Lys)
n.940T>A
c.*14T>A (n.*14T>A)
c.210T>A (p.Asn70Lys)
c.183T>A (p.Asn61Lys)
c.228T>A (p.Asn76Lys)
5g.161854248T>CCA447608828GABRA1c.165T>C (p.Asn55=)
n.940T>C
c.*14T>C (n.*14T>C)
c.210T>C (p.Asn70=)
c.183T>C (p.Asn61=)
c.228T>C (p.Asn76=)
5g.161854248T>GCA362181645GABRA1c.165T>G (p.Asn55Lys)
n.940T>G
c.*14T>G (n.*14T>G)
c.210T>G (p.Asn70Lys)
c.183T>G (p.Asn61Lys)
c.228T>G (p.Asn76Lys)
5g.161854249delCA2676321546GABRA1c.166del (p.Arg56AlafsTer2)
n.941del
c.*15del (n.*15del)
c.211del (p.Arg71AlafsTer2)
c.184del (p.Arg62AlafsTer2)
c.229del (p.Arg77AlafsTer2)
 gnomAD v4
5g.161854249C>ACA362181646GABRA1c.166C>A (p.Arg56Ser)
n.941C>A
c.*15C>A (n.*15C>A)
c.211C>A (p.Arg71Ser)
c.184C>A (p.Arg62Ser)
c.229C>A (p.Arg77Ser)
 gnomAD v4
5g.161854249C>GCA362181647GABRA1c.166C>G (p.Arg56Gly)
n.941C>G
c.*15C>G (n.*15C>G)
c.211C>G (p.Arg71Gly)
c.184C>G (p.Arg62Gly)
c.229C>G (p.Arg77Gly)
5g.161854249C>TCA362181648GABRA1c.166C>T (p.Arg56Cys)
n.941C>T
c.*15C>T (n.*15C>T)
c.211C>T (p.Arg71Cys)
c.184C>T (p.Arg62Cys)
c.229C>T (p.Arg77Cys)
 gnomAD v4 COSMIC
5g.161854250G>ACA362181649GABRA1c.167G>A (p.Arg56His)
n.942G>A
c.*16G>A (n.*16G>A)
c.212G>A (p.Arg71His)
c.185G>A (p.Arg62His)
c.230G>A (p.Arg77His)
 ClinVar gnomAD v4
5g.161854250G>CCA362181650GABRA1c.167G>C (p.Arg56Pro)
n.942G>C
c.*16G>C (n.*16G>C)
c.212G>C (p.Arg71Pro)
c.185G>C (p.Arg62Pro)
c.230G>C (p.Arg77Pro)
5g.161854250G>TCA362181651GABRA1c.167G>T (p.Arg56Leu)
n.942G>T
c.*16G>T (n.*16G>T)
c.212G>T (p.Arg71Leu)
c.185G>T (p.Arg62Leu)
c.230G>T (p.Arg77Leu)
5g.161854251C>ACA447608829GABRA1c.168C>A (p.Arg56=)
n.943C>A
c.*17C>A (n.*17C>A)
c.213C>A (p.Arg71=)
c.186C>A (p.Arg62=)
c.231C>A (p.Arg77=)
 gnomAD v4
5g.161854251C>GCA447608831GABRA1c.168C>G (p.Arg56=)
n.943C>G
c.*17C>G (n.*17C>G)
c.213C>G (p.Arg71=)
c.186C>G (p.Arg62=)
c.231C>G (p.Arg77=)
5g.161854251C>TCA447608830GABRA1c.168C>T (p.Arg56=)
n.943C>T
c.*17C>T (n.*17C>T)
c.213C>T (p.Arg71=)
c.186C>T (p.Arg62=)
c.231C>T (p.Arg77=)
 COSMIC
5g.161854252C>ACA362181652GABRA1c.169C>A (p.Leu57Met)
n.944C>A
c.*18C>A (n.*18C>A)
c.214C>A (p.Leu72Met)
c.187C>A (p.Leu63Met)
c.232C>A (p.Leu78Met)
5g.161854252C>GCA362181653GABRA1c.169C>G (p.Leu57Val)
n.944C>G
c.*18C>G (n.*18C>G)
c.214C>G (p.Leu72Val)
c.187C>G (p.Leu63Val)
c.232C>G (p.Leu78Val)
5g.161854252C>TCA447608832GABRA1c.169C>T (p.Leu57=)
n.944C>T
c.*18C>T (n.*18C>T)
c.214C>T (p.Leu72=)
c.187C>T (p.Leu63=)
c.232C>T (p.Leu78=)
5g.161854253T>ACA362181654GABRA1c.170T>A (p.Leu57Gln)
n.945T>A
c.*19T>A (n.*19T>A)
c.215T>A (p.Leu72Gln)
c.188T>A (p.Leu63Gln)
c.233T>A (p.Leu78Gln)
5g.161854253T>CCA362181655GABRA1c.170T>C (p.Leu57Pro)
n.945T>C
c.*19T>C (n.*19T>C)
c.215T>C (p.Leu72Pro)
c.188T>C (p.Leu63Pro)
c.233T>C (p.Leu78Pro)
 gnomAD v4
5g.161854253T>GCA362181656GABRA1c.170T>G (p.Leu57Arg)
n.945T>G
c.*19T>G (n.*19T>G)
c.215T>G (p.Leu72Arg)
c.188T>G (p.Leu63Arg)
c.233T>G (p.Leu78Arg)
5g.161854254G>ACA3544345GABRA1c.171G>A (p.Leu57=)
n.946G>A
c.*20G>A (n.*20G>A)
c.216G>A (p.Leu72=)
c.189G>A (p.Leu63=)
c.234G>A (p.Leu78=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.161854254G>CCA447608833GABRA1c.171G>C (p.Leu57=)
n.946G>C
c.*20G>C (n.*20G>C)
c.216G>C (p.Leu72=)
c.189G>C (p.Leu63=)
c.234G>C (p.Leu78=)
5g.161854254G=CA1596214976GABRA1c.171G= (p.Leu57=)
n.946G=
c.*20G= (n.*20G=)
c.216G= (p.Leu72=)
c.189G= (p.Leu63=)
c.234G= (p.Leu78=)
5g.161854254G>TCA447608834GABRA1c.171G>T (p.Leu57=)
n.946G>T
c.*20G>T (n.*20G>T)
c.216G>T (p.Leu72=)
c.189G>T (p.Leu63=)
c.234G>T (p.Leu78=)
5g.161854256_161854257delCA2676321551GABRA1c.173_174del (p.Arg58ThrfsTer13)
n.948_949del
c.*22_*23del (n.*22_*23del)
c.218_219del (p.Arg73ThrfsTer13)
c.191_192del (p.Arg64ThrfsTer13)
c.236_237del (p.Arg79ThrfsTer13)
 gnomAD v4
5g.161854255A>CCA447608835GABRA1c.172A>C (p.Arg58=)
n.947A>C
c.*21A>C (n.*21A>C)
c.217A>C (p.Arg73=)
c.190A>C (p.Arg64=)
c.235A>C (p.Arg79=)
5g.161854255A>GCA362181657GABRA1c.172A>G (p.Arg58Gly)
n.947A>G
c.*21A>G (n.*21A>G)
c.217A>G (p.Arg73Gly)
c.190A>G (p.Arg64Gly)
c.235A>G (p.Arg79Gly)
 gnomAD v4
5g.161854255A>TCA362181658GABRA1c.172A>T (p.Arg58Ter)
n.947A>T
c.*21A>T (n.*21A>T)
c.217A>T (p.Arg73Ter)
c.190A>T (p.Arg64Ter)
c.235A>T (p.Arg79Ter)
5g.161854256G>ACA362181659GABRA1c.173G>A (p.Arg58Lys)
n.948G>A
c.*22G>A (n.*22G>A)
c.218G>A (p.Arg73Lys)
c.191G>A (p.Arg64Lys)
c.236G>A (p.Arg79Lys)
5g.161854256G>CCA362181660GABRA1c.173G>C (p.Arg58Thr)
n.948G>C
c.*22G>C (n.*22G>C)
c.218G>C (p.Arg73Thr)
c.191G>C (p.Arg64Thr)
c.236G>C (p.Arg79Thr)
5g.161854256G>TCA362181661GABRA1c.173G>T (p.Arg58Ile)
n.948G>T
c.*22G>T (n.*22G>T)
c.218G>T (p.Arg73Ile)
c.191G>T (p.Arg64Ile)
c.236G>T (p.Arg79Ile)
5g.161854257A>CCA362181662GABRA1c.174A>C (p.Arg58Ser)
n.949A>C
c.*23A>C (n.*23A>C)
c.219A>C (p.Arg73Ser)
c.192A>C (p.Arg64Ser)
c.237A>C (p.Arg79Ser)
5g.161854257A>GCA447608836GABRA1c.174A>G (p.Arg58=)
n.949A>G
c.*23A>G (n.*23A>G)
c.219A>G (p.Arg73=)
c.192A>G (p.Arg64=)
c.237A>G (p.Arg79=)
 gnomAD v4
5g.161854257A>TCA362181663GABRA1c.174A>T (p.Arg58Ser)
n.949A>T
c.*23A>T (n.*23A>T)
c.219A>T (p.Arg73Ser)
c.192A>T (p.Arg64Ser)
c.237A>T (p.Arg79Ser)
5g.161854258C>ACA3544346GABRA1c.175C>A (p.Pro59Thr)
n.950C>A
c.*24C>A (n.*24C>A)
c.220C>A (p.Pro74Thr)
c.193C>A (p.Pro65Thr)
c.238C>A (p.Pro80Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.161854258C=CA1596214980GABRA1c.175C= (p.Pro59=)
n.950C=
c.*24C= (n.*24C=)
c.220C= (p.Pro74=)
c.193C= (p.Pro65=)
c.238C= (p.Pro80=)
5g.161854258C>GCA362181665GABRA1c.175C>G (p.Pro59Ala)
n.950C>G
c.*24C>G (n.*24C>G)
c.220C>G (p.Pro74Ala)
c.193C>G (p.Pro65Ala)
c.238C>G (p.Pro80Ala)
5g.161854258C>TCA362181664GABRA1c.175C>T (p.Pro59Ser)
n.950C>T
c.*24C>T (n.*24C>T)
c.220C>T (p.Pro74Ser)
c.193C>T (p.Pro65Ser)
c.238C>T (p.Pro80Ser)
5g.161854259delCA2578474531GABRA1c.176del (p.Pro59GlnfsTer7)
n.951del
c.*25del (n.*25del)
c.221del (p.Pro74GlnfsTer7)
c.194del (p.Pro65GlnfsTer7)
c.239del (p.Pro80GlnfsTer7)
 gnomAD v4
5g.161854259C>ACA362181666GABRA1c.176C>A (p.Pro59Gln)
n.951C>A
c.*25C>A (n.*25C>A)
c.221C>A (p.Pro74Gln)
c.194C>A (p.Pro65Gln)
c.239C>A (p.Pro80Gln)
 gnomAD v4
5g.161854259C=CA1596214986GABRA1c.176C= (p.Pro59=)
n.951C=
c.*25C= (n.*25C=)
c.221C= (p.Pro74=)
c.194C= (p.Pro65=)
c.239C= (p.Pro80=)
5g.161854259C>GCA362181667GABRA1c.176C>G (p.Pro59Arg)
n.951C>G
c.*25C>G (n.*25C>G)
c.221C>G (p.Pro74Arg)
c.194C>G (p.Pro65Arg)
c.239C>G (p.Pro80Arg)
5g.161854259C>TCA16618154GABRA1c.176C>T (p.Pro59Leu)
n.951C>T
c.*25C>T (n.*25C>T)
c.221C>T (p.Pro74Leu)
c.194C>T (p.Pro65Leu)
c.239C>T (p.Pro80Leu)
 ClinVar dbSNP
5g.161854260A=CA1596214994GABRA1c.177A= (p.Pro59=)
n.952A=
c.*26A= (n.*26A=)
c.222A= (p.Pro74=)
c.195A= (p.Pro65=)
c.240A= (p.Pro80=)
5g.161854260A>CCA447608838GABRA1c.177A>C (p.Pro59=)
n.952A>C
c.*26A>C (n.*26A>C)
c.222A>C (p.Pro74=)
c.195A>C (p.Pro65=)
c.240A>C (p.Pro80=)
5g.161854260A>GCA3544347GABRA1c.177A>G (p.Pro59=)
n.952A>G
c.*26A>G (n.*26A>G)
c.222A>G (p.Pro74=)
c.195A>G (p.Pro65=)
c.240A>G (p.Pro80=)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.161854260A>TCA447608837GABRA1c.177A>T (p.Pro59=)
n.952A>T
c.*26A>T (n.*26A>T)
c.222A>T (p.Pro74=)
c.195A>T (p.Pro65=)
c.240A>T (p.Pro80=)
5g.161854261G>ACA362181668GABRA1c.178G>A (p.Gly60Arg)
n.953G>A
c.*27G>A (n.*27G>A)
c.223G>A (p.Gly75Arg)
c.196G>A (p.Gly66Arg)
c.241G>A (p.Gly81Arg)
5g.161854261G>CCA362181669GABRA1c.178G>C (p.Gly60Arg)
n.953G>C
c.*27G>C (n.*27G>C)
c.223G>C (p.Gly75Arg)
c.196G>C (p.Gly66Arg)
c.241G>C (p.Gly81Arg)
5g.161854261G>TCA362181670GABRA1c.178G>T (p.Gly60Ter)
n.953G>T
c.*27G>T (n.*27G>T)
c.223G>T (p.Gly75Ter)
c.196G>T (p.Gly66Ter)
c.241G>T (p.Gly81Ter)
5g.161854262G>ACA362181671GABRA1c.179G>A (p.Gly60Glu)
n.954G>A
c.*28G>A (n.*28G>A)
c.224G>A (p.Gly75Glu)
c.197G>A (p.Gly66Glu)
c.242G>A (p.Gly81Glu)
 gnomAD v4
5g.161854262G>CCA362181672GABRA1c.179G>C (p.Gly60Ala)
n.954G>C
c.*28G>C (n.*28G>C)
c.224G>C (p.Gly75Ala)
c.197G>C (p.Gly66Ala)
c.242G>C (p.Gly81Ala)
5g.161854262G>TCA362181673GABRA1c.179G>T (p.Gly60Val)
n.954G>T
c.*28G>T (n.*28G>T)
c.224G>T (p.Gly75Val)
c.197G>T (p.Gly66Val)
c.242G>T (p.Gly81Val)
5g.161854263A>CCA447608839GABRA1c.180A>C (p.Gly60=)
n.955A>C
c.*29A>C (n.*29A>C)
c.225A>C (p.Gly75=)
c.198A>C (p.Gly66=)
c.243A>C (p.Gly81=)
5g.161854263A>GCA447608840GABRA1c.180A>G (p.Gly60=)
n.955A>G
c.*29A>G (n.*29A>G)
c.225A>G (p.Gly75=)
c.198A>G (p.Gly66=)
c.243A>G (p.Gly81=)
5g.161854263A>TCA447608841GABRA1c.180A>T (p.Gly60=)
n.955A>T
c.*29A>T (n.*29A>T)
c.225A>T (p.Gly75=)
c.198A>T (p.Gly66=)
c.243A>T (p.Gly81=)
5g.161854264T>ACA362181674GABRA1c.181T>A (p.Leu61Met)
n.956T>A
c.*30T>A (n.*30T>A)
c.226T>A (p.Leu76Met)
c.199T>A (p.Leu67Met)
c.244T>A (p.Leu82Met)
5g.161854264T>CCA447608842GABRA1c.181T>C (p.Leu61=)
n.956T>C
c.*30T>C (n.*30T>C)
c.226T>C (p.Leu76=)
c.199T>C (p.Leu67=)
c.244T>C (p.Leu82=)
 gnomAD v4
5g.161854264T>GCA362181675GABRA1c.181T>G (p.Leu61Val)
n.956T>G
c.*30T>G (n.*30T>G)
c.226T>G (p.Leu76Val)
c.199T>G (p.Leu67Val)
c.244T>G (p.Leu82Val)
5g.161854265T>ACA362181678GABRA1c.182T>A (p.Leu61Ter)
n.957T>A
c.*31T>A (n.*31T>A)
c.227T>A (p.Leu76Ter)
c.200T>A (p.Leu67Ter)
c.245T>A (p.Leu82Ter)
5g.161854265T>CCA362181677GABRA1c.182T>C (p.Leu61Ser)
n.957T>C
c.*31T>C (n.*31T>C)
c.227T>C (p.Leu76Ser)
c.200T>C (p.Leu67Ser)
c.245T>C (p.Leu82Ser)
5g.161854265T>GCA362181676GABRA1c.182T>G (p.Leu61Trp)
n.957T>G
c.*31T>G (n.*31T>G)
c.227T>G (p.Leu76Trp)
c.200T>G (p.Leu67Trp)
c.245T>G (p.Leu82Trp)
5g.161854266G>ACA3544348GABRA1c.183G>A (p.Leu61=)
n.958G>A
c.*32G>A (n.*32G>A)
c.228G>A (p.Leu76=)
c.201G>A (p.Leu67=)
c.246G>A (p.Leu82=)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.161854266G>CCA362181679GABRA1c.183G>C (p.Leu61Phe)
n.958G>C
c.*32G>C (n.*32G>C)
c.228G>C (p.Leu76Phe)
c.201G>C (p.Leu67Phe)
c.246G>C (p.Leu82Phe)
5g.161854266G=CA1596214998GABRA1c.183G= (p.Leu61=)
n.958G=
c.*32G= (n.*32G=)
c.228G= (p.Leu76=)
c.201G= (p.Leu67=)
c.246G= (p.Leu82=)
5g.161854266G>TCA362181680GABRA1c.183G>T (p.Leu61Phe)
n.958G>T
c.*32G>T (n.*32G>T)
c.228G>T (p.Leu76Phe)
c.201G>T (p.Leu67Phe)
c.246G>T (p.Leu82Phe)
5g.161854268delCA2578474532GABRA1c.185del (p.Gly62GlufsTer4)
n.960del
c.*34del (n.*34del)
c.230del (p.Gly77GlufsTer4)
c.203del (p.Gly68GlufsTer4)
c.248del (p.Gly83GlufsTer4)
5g.161854267G>ACA362181681GABRA1c.184G>A (p.Gly62Arg)
n.959G>A
c.*33G>A (n.*33G>A)
c.229G>A (p.Gly77Arg)
c.202G>A (p.Gly68Arg)
c.247G>A (p.Gly83Arg)
 gnomAD v4
5g.161854267G>CCA362181682GABRA1c.184G>C (p.Gly62Arg)
n.959G>C
c.*33G>C (n.*33G>C)
c.229G>C (p.Gly77Arg)
c.202G>C (p.Gly68Arg)
c.247G>C (p.Gly83Arg)
5g.161854267G>TCA362181683GABRA1c.184G>T (p.Gly62Ter)
n.959G>T
c.*33G>T (n.*33G>T)
c.229G>T (p.Gly77Ter)
c.202G>T (p.Gly68Ter)
c.247G>T (p.Gly83Ter)
 gnomAD v4
5g.161854268G>ACA362181684GABRA1c.185G>A (p.Gly62Glu)
n.960G>A
c.*34G>A (n.*34G>A)
c.230G>A (p.Gly77Glu)
c.203G>A (p.Gly68Glu)
c.248G>A (p.Gly83Glu)
 gnomAD v4
5g.161854268G>CCA362181685GABRA1c.185G>C (p.Gly62Ala)
n.960G>C
c.*34G>C (n.*34G>C)
c.230G>C (p.Gly77Ala)
c.203G>C (p.Gly68Ala)
c.248G>C (p.Gly83Ala)
5g.161854268G>TCA362181686GABRA1c.185G>T (p.Gly62Val)
n.960G>T
c.*34G>T (n.*34G>T)
c.230G>T (p.Gly77Val)
c.203G>T (p.Gly68Val)
c.248G>T (p.Gly83Val)
5g.161854269A>CCA447608843GABRA1c.186A>C (p.Gly62=)
n.961A>C
c.*35A>C (n.*35A>C)
c.231A>C (p.Gly77=)
c.204A>C (p.Gly68=)
c.249A>C (p.Gly83=)
 gnomAD v4
5g.161854269A>GCA447608844GABRA1c.186A>G (p.Gly62=)
n.961A>G
c.*35A>G (n.*35A>G)
c.231A>G (p.Gly77=)
c.204A>G (p.Gly68=)
c.249A>G (p.Gly83=)
 gnomAD v4
5g.161854269A>TCA447608845GABRA1c.186A>T (p.Gly62=)
n.961A>T
c.*35A>T (n.*35A>T)
c.231A>T (p.Gly77=)
c.204A>T (p.Gly68=)
c.249A>T (p.Gly83=)
 gnomAD v4
5g.161854270G>ACA362181687GABRA1c.187G>A (p.Glu63Lys)
n.962G>A
c.*36G>A (n.*36G>A)
c.232G>A (p.Glu78Lys)
c.205G>A (p.Glu69Lys)
c.250G>A (p.Glu84Lys)
 ClinVar dbSNP gnomAD v4
5g.161854270G>CCA362181688GABRA1c.187G>C (p.Glu63Gln)
n.962G>C
c.*36G>C (n.*36G>C)
c.232G>C (p.Glu78Gln)
c.205G>C (p.Glu69Gln)
c.250G>C (p.Glu84Gln)
5g.161854270G=CA1596215004GABRA1c.187G= (p.Glu63=)
n.962G=
c.*36G= (n.*36G=)
c.232G= (p.Glu78=)
c.205G= (p.Glu69=)
c.250G= (p.Glu84=)
5g.161854270G>TCA362181689GABRA1c.187G>T (p.Glu63Ter)
n.962G>T
c.*36G>T (n.*36G>T)
c.232G>T (p.Glu78Ter)
c.205G>T (p.Glu69Ter)
c.250G>T (p.Glu84Ter)
5g.161854271G>ACA362181690GABRA1c.187+1G>A (n.187+1G>A)
n.962+1G>A
c.*36+1G>A (n.*36+1G>A)
c.232+1G>A (n.232+1G>A)
c.205+1G>A (n.205+1G>A)
c.250+1G>A (n.250+1G>A)
 gnomAD v4
5g.161854271G>CCA362181692GABRA1c.187+1G>C (n.187+1G>C)
n.962+1G>C
c.*36+1G>C (n.*36+1G>C)
c.232+1G>C (n.232+1G>C)
c.205+1G>C (n.205+1G>C)
c.250+1G>C (n.250+1G>C)
5g.161854271G>TCA362181691GABRA1c.187+1G>T (n.187+1G>T)
n.962+1G>T
c.*36+1G>T (n.*36+1G>T)
c.232+1G>T (n.232+1G>T)
c.205+1G>T (n.205+1G>T)
c.250+1G>T (n.250+1G>T)
5g.161854272delCA2578474533GABRA1c.187+2del (n.187+2del)
n.962+2del
c.*36+2del (n.*36+2del)
c.232+2del (n.232+2del)
c.205+2del (n.205+2del)
c.250+2del (n.250+2del)
 gnomAD v4
5g.161854272T>ACA362181693GABRA1c.187+2T>A (n.187+2T>A)
n.962+2T>A
c.*36+2T>A (n.*36+2T>A)
c.232+2T>A (n.232+2T>A)
c.205+2T>A (n.205+2T>A)
c.250+2T>A (n.250+2T>A)
5g.161854272T>CCA362181695GABRA1c.187+2T>C (n.187+2T>C)
n.962+2T>C
c.*36+2T>C (n.*36+2T>C)
c.232+2T>C (n.232+2T>C)
c.205+2T>C (n.205+2T>C)
c.250+2T>C (n.250+2T>C)
 gnomAD v4
5g.161854272T>GCA362181694GABRA1c.187+2T>G (n.187+2T>G)
n.962+2T>G
c.*36+2T>G (n.*36+2T>G)
c.232+2T>G (n.232+2T>G)
c.205+2T>G (n.205+2T>G)
c.250+2T>G (n.250+2T>G)
5g.161854273A=CA1596215009GABRA1c.187+3A= (n.187+3A=)
n.962+3A=
c.*36+3A= (n.*36+3A=)
c.232+3A= (n.232+3A=)
c.205+3A= (n.205+3A=)
c.250+3A= (n.250+3A=)
5g.161854273A>GCA3544349GABRA1c.187+3A>G (n.187+3A>G)
n.962+3A>G
c.*36+3A>G (n.*36+3A>G)
c.232+3A>G (n.232+3A>G)
c.205+3A>G (n.205+3A>G)
c.250+3A>G (n.250+3A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.161854274G>ACA2676321564GABRA1c.187+4G>A (n.187+4G>A)
n.962+4G>A
c.*36+4G>A (n.*36+4G>A)
c.232+4G>A (n.232+4G>A)
c.205+4G>A (n.205+4G>A)
c.250+4G>A (n.250+4G>A)
 gnomAD v4
5g.161854275G>ACA314690GABRA1c.187+5G>A (n.187+5G>A)
n.962+5G>A
c.*36+5G>A (n.*36+5G>A)
c.232+5G>A (n.232+5G>A)
c.205+5G>A (n.205+5G>A)
c.250+5G>A (n.250+5G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.161854275G=CA1596215015GABRA1c.187+5G= (n.187+5G=)
n.962+5G=
c.*36+5G= (n.*36+5G=)
c.232+5G= (n.232+5G=)
c.205+5G= (n.205+5G=)
c.250+5G= (n.250+5G=)
5g.161854275G>TCA3544350GABRA1c.187+5G>T (n.187+5G>T)
n.962+5G>T
c.*36+5G>T (n.*36+5G>T)
c.232+5G>T (n.232+5G>T)
c.205+5G>T (n.205+5G>T)
c.250+5G>T (n.250+5G>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.161854276T>CCA2676321566GABRA1c.187+6T>C (n.187+6T>C)
n.962+6T>C
c.*36+6T>C (n.*36+6T>C)
c.232+6T>C (n.232+6T>C)
c.205+6T>C (n.205+6T>C)
c.250+6T>C (n.250+6T>C)
 gnomAD v4
5g.161854279_161854286dupCA2573129671GABRA1c.187+9_187+16dup (n.187+9_187+16dup)
n.962+9_962+16dup
c.*36+9_*36+16dup (n.*36+9_*36+16dup)
c.232+9_232+16dup (n.232+9_232+16dup)
c.205+9_205+16dup (n.205+9_205+16dup)
c.250+9_250+16dup (n.250+9_250+16dup)
5g.161854277T>CCA2676321567GABRA1c.187+7T>C (n.187+7T>C)
n.962+7T>C
c.*36+7T>C (n.*36+7T>C)
c.232+7T>C (n.232+7T>C)
c.205+7T>C (n.205+7T>C)
c.250+7T>C (n.250+7T>C)
 gnomAD v4
5g.161854278G>ACA2580073981GABRA1c.187+8G>A (n.187+8G>A)
n.962+8G>A
c.*36+8G>A (n.*36+8G>A)
c.232+8G>A (n.232+8G>A)
c.205+8G>A (n.205+8G>A)
c.250+8G>A (n.250+8G>A)
 ClinVar gnomAD v4
5g.161854279C>ACA2676321570GABRA1c.187+9C>A (n.187+9C>A)
n.962+9C>A
c.*36+9C>A (n.*36+9C>A)
c.232+9C>A (n.232+9C>A)
c.205+9C>A (n.205+9C>A)
c.250+9C>A (n.250+9C>A)
 gnomAD v4
5g.161854279C=CA1596215021GABRA1c.187+9C= (n.187+9C=)
n.962+9C=
c.*36+9C= (n.*36+9C=)
c.232+9C= (n.232+9C=)
c.205+9C= (n.205+9C=)
c.250+9C= (n.250+9C=)
5g.161854279C>TCA1083668123GABRA1c.187+9C>T (n.187+9C>T)
n.962+9C>T
c.*36+9C>T (n.*36+9C>T)
c.232+9C>T (n.232+9C>T)
c.205+9C>T (n.205+9C>T)
c.250+9C>T (n.250+9C>T)
 dbSNP gnomAD v3 gnomAD v4
5g.161854280A=CA1596215022GABRA1c.187+10A= (n.187+10A=)
n.962+10A=
c.*36+10A= (n.*36+10A=)
c.232+10A= (n.232+10A=)
c.205+10A= (n.205+10A=)
c.250+10A= (n.250+10A=)
5g.161854280A>CCA3544351GABRA1c.187+10A>C (n.187+10A>C)
n.962+10A>C
c.*36+10A>C (n.*36+10A>C)
c.232+10A>C (n.232+10A>C)
c.205+10A>C (n.205+10A>C)
c.250+10A>C (n.250+10A>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.161854280A>GCA2578474534GABRA1c.187+10A>G (n.187+10A>G)
n.962+10A>G
c.*36+10A>G (n.*36+10A>G)
c.232+10A>G (n.232+10A>G)
c.205+10A>G (n.205+10A>G)
c.250+10A>G (n.250+10A>G)
 gnomAD v4
5g.161854283A=CA1596215024GABRA1c.187+13A= (n.187+13A=)
n.962+13A=
c.*36+13A= (n.*36+13A=)
c.232+13A= (n.232+13A=)
c.205+13A= (n.205+13A=)
c.250+13A= (n.250+13A=)
5g.161854283A>GCA1596215025GABRA1c.187+13A>G (n.187+13A>G)
n.962+13A>G
c.*36+13A>G (n.*36+13A>G)
c.232+13A>G (n.232+13A>G)
c.205+13A>G (n.205+13A>G)
c.250+13A>G (n.250+13A>G)
 dbSNP gnomAD v4
5g.161854284T>CCA564166984GABRA1c.187+14T>C (n.187+14T>C)
n.962+14T>C
c.*36+14T>C (n.*36+14T>C)
c.232+14T>C (n.232+14T>C)
c.205+14T>C (n.205+14T>C)
c.250+14T>C (n.250+14T>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.161854284T=CA1596215026GABRA1c.187+14T= (n.187+14T=)
n.962+14T=
c.*36+14T= (n.*36+14T=)
c.232+14T= (n.232+14T=)
c.205+14T= (n.205+14T=)
c.250+14T= (n.250+14T=)
5g.161854285T>CCA131082512GABRA1c.187+15T>C (n.187+15T>C)
n.962+15T>C
c.*36+15T>C (n.*36+15T>C)
c.232+15T>C (n.232+15T>C)
c.205+15T>C (n.205+15T>C)
c.250+15T>C (n.250+15T>C)
 dbSNP gnomAD v3 gnomAD v4
5g.161854285T=CA1596215029GABRA1c.187+15T= (n.187+15T=)
n.962+15T=
c.*36+15T= (n.*36+15T=)
c.232+15T= (n.232+15T=)
c.205+15T= (n.205+15T=)
c.250+15T= (n.250+15T=)
5g.161854286G>ACA658796671GABRA1c.187+16G>A (n.187+16G>A)
n.962+16G>A
c.*36+16G>A (n.*36+16G>A)
c.232+16G>A (n.232+16G>A)
c.205+16G>A (n.205+16G>A)
c.250+16G>A (n.250+16G>A)
 ClinVar dbSNP
5g.161854286G=CA1596215032GABRA1c.187+16G= (n.187+16G=)
n.962+16G=
c.*36+16G= (n.*36+16G=)
c.232+16G= (n.232+16G=)
c.205+16G= (n.205+16G=)
c.250+16G= (n.250+16G=)
5g.161854286G>TCA2580073982GABRA1c.187+16G>T (n.187+16G>T)
n.962+16G>T
c.*36+16G>T (n.*36+16G>T)
c.232+16G>T (n.232+16G>T)
c.205+16G>T (n.205+16G>T)
c.250+16G>T (n.250+16G>T)
 ClinVar
5g.161854288A=CA1596215038GABRA1c.187+18A= (n.187+18A=)
n.962+18A=
c.*36+18A= (n.*36+18A=)
c.232+18A= (n.232+18A=)
c.205+18A= (n.205+18A=)
c.250+18A= (n.250+18A=)
5g.161854288A>GCA1596215039GABRA1c.187+18A>G (n.187+18A>G)
n.962+18A>G
c.*36+18A>G (n.*36+18A>G)
c.232+18A>G (n.232+18A>G)
c.205+18A>G (n.205+18A>G)
c.250+18A>G (n.250+18A>G)
 dbSNP gnomAD v4
5g.161854289T>CCA131082513GABRA1c.187+19T>C (n.187+19T>C)
n.962+19T>C
c.*36+19T>C (n.*36+19T>C)
c.232+19T>C (n.232+19T>C)
c.205+19T>C (n.205+19T>C)
c.250+19T>C (n.250+19T>C)
 dbSNP gnomAD v4
5g.161854289T=CA1596215043GABRA1c.187+19T= (n.187+19T=)
n.962+19T=
c.*36+19T= (n.*36+19T=)
c.232+19T= (n.232+19T=)
c.205+19T= (n.205+19T=)
c.250+19T= (n.250+19T=)
5g.161854293dupCA3544352GABRA1c.187+23dup (n.187+23dup)
n.962+23dup
c.*36+23dup (n.*36+23dup)
c.232+23dup (n.232+23dup)
c.205+23dup (n.205+23dup)
c.250+23dup (n.250+23dup)
 dbSNP ExAC gnomAD v2 gnomAD v4

Number of alleles fetched