Chr Mutation (hg38) CAid Gene Transcript Linkouts
4g.47406863G>ACA439245875GABRB1c.1017G>A (p.Lys339=)
c.996G>A (p.Lys332=)
c.366G>A (p.Lys122=)
c.918G>A (p.Lys306=)
 gnomAD v4 COSMIC
4g.47406863G>CCA356811887GABRB1c.1017G>C (p.Lys339Asn)
c.996G>C (p.Lys332Asn)
c.366G>C (p.Lys122Asn)
c.918G>C (p.Lys306Asn)
4g.47406863G>TCA356811885GABRB1c.1017G>T (p.Lys339Asn)
c.996G>T (p.Lys332Asn)
c.366G>T (p.Lys122Asn)
c.918G>T (p.Lys306Asn)
4g.47406864G>ACA356811889GABRB1c.1018G>A (p.Gly340Arg)
c.997G>A (p.Gly333Arg)
c.367G>A (p.Gly123Arg)
c.919G>A (p.Gly307Arg)
 dbSNP gnomAD v3 gnomAD v4
4g.47406864G>CCA356811893GABRB1c.1018G>C (p.Gly340Arg)
c.997G>C (p.Gly333Arg)
c.367G>C (p.Gly123Arg)
c.919G>C (p.Gly307Arg)
 COSMIC
4g.47406864G=CA1455320560GABRB1c.1018G= (p.Gly340=)
c.997G= (p.Gly333=)
c.367G= (p.Gly123=)
c.919G= (p.Gly307=)
4g.47406864G>TCA356811891GABRB1c.1018G>T (p.Gly340Ter)
c.997G>T (p.Gly333Ter)
c.367G>T (p.Gly123Ter)
c.919G>T (p.Gly307Ter)
4g.47406865G>ACA356811895GABRB1c.1019G>A (p.Gly340Glu)
c.998G>A (p.Gly333Glu)
c.368G>A (p.Gly123Glu)
c.920G>A (p.Gly307Glu)
 dbSNP gnomAD v3 gnomAD v4
4g.47406865G>CCA356811897GABRB1c.1019G>C (p.Gly340Ala)
c.998G>C (p.Gly333Ala)
c.368G>C (p.Gly123Ala)
c.920G>C (p.Gly307Ala)
4g.47406865G=CA1455320565GABRB1c.1019G= (p.Gly340=)
c.998G= (p.Gly333=)
c.368G= (p.Gly123=)
c.920G= (p.Gly307=)
4g.47406865G>TCA2907722GABRB1c.1019G>T (p.Gly340Val)
c.998G>T (p.Gly333Val)
c.368G>T (p.Gly123Val)
c.920G>T (p.Gly307Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.47406866A>CCA439245876GABRB1c.1020A>C (p.Gly340=)
c.999A>C (p.Gly333=)
c.369A>C (p.Gly123=)
c.921A>C (p.Gly307=)
4g.47406866A>GCA439245877GABRB1c.1020A>G (p.Gly340=)
c.999A>G (p.Gly333=)
c.369A>G (p.Gly123=)
c.921A>G (p.Gly307=)
4g.47406866A>TCA439245878GABRB1c.1020A>T (p.Gly340=)
c.999A>T (p.Gly333=)
c.369A>T (p.Gly123=)
c.921A>T (p.Gly307=)
4g.47406867G>ACA2907723GABRB1c.1021G>A (p.Ala341Thr)
c.1000G>A (p.Ala334Thr)
c.370G>A (p.Ala124Thr)
c.922G>A (p.Ala308Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.47406867G>CCA356811900GABRB1c.1021G>C (p.Ala341Pro)
c.1000G>C (p.Ala334Pro)
c.370G>C (p.Ala124Pro)
c.922G>C (p.Ala308Pro)
4g.47406867G=CA1455320568GABRB1c.1021G= (p.Ala341=)
c.1000G= (p.Ala334=)
c.370G= (p.Ala124=)
c.922G= (p.Ala308=)
4g.47406867G>TCA356811901GABRB1c.1021G>T (p.Ala341Ser)
c.1000G>T (p.Ala334Ser)
c.370G>T (p.Ala124Ser)
c.922G>T (p.Ala308Ser)
4g.47406868C>ACA356811903GABRB1c.1022C>A (p.Ala341Asp)
c.1001C>A (p.Ala334Asp)
c.371C>A (p.Ala124Asp)
c.923C>A (p.Ala308Asp)
4g.47406868C>GCA356811904GABRB1c.1022C>G (p.Ala341Gly)
c.1001C>G (p.Ala334Gly)
c.371C>G (p.Ala124Gly)
c.923C>G (p.Ala308Gly)
4g.47406868C>TCA356811906GABRB1c.1022C>T (p.Ala341Val)
c.1001C>T (p.Ala334Val)
c.371C>T (p.Ala124Val)
c.923C>T (p.Ala308Val)
4g.47406869T>ACA439245880GABRB1c.1023T>A (p.Ala341=)
c.1002T>A (p.Ala334=)
c.372T>A (p.Ala124=)
c.924T>A (p.Ala308=)
4g.47406869T>CCA439245881GABRB1c.1023T>C (p.Ala341=)
c.1002T>C (p.Ala334=)
c.372T>C (p.Ala124=)
c.924T>C (p.Ala308=)
4g.47406869T>GCA439245882GABRB1c.1023T>G (p.Ala341=)
c.1002T>G (p.Ala334=)
c.372T>G (p.Ala124=)
c.924T>G (p.Ala308=)
4g.47406870A=CA1455320570GABRB1c.1024A= (p.Ser342=)
c.1003A= (p.Ser335=)
c.373A= (p.Ser125=)
c.925A= (p.Ser309=)
4g.47406870A>CCA356811908GABRB1c.1024A>C (p.Ser342Arg)
c.1003A>C (p.Ser335Arg)
c.373A>C (p.Ser125Arg)
c.925A>C (p.Ser309Arg)
4g.47406870A>GCA356811910GABRB1c.1024A>G (p.Ser342Gly)
c.1003A>G (p.Ser335Gly)
c.373A>G (p.Ser125Gly)
c.925A>G (p.Ser309Gly)
 dbSNP gnomAD v4
4g.47406870A>TCA356811912GABRB1c.1024A>T (p.Ser342Cys)
c.1003A>T (p.Ser335Cys)
c.373A>T (p.Ser125Cys)
c.925A>T (p.Ser309Cys)
4g.47406871G>ACA356811917GABRB1c.1025G>A (p.Ser342Asn)
c.1004G>A (p.Ser335Asn)
c.374G>A (p.Ser125Asn)
c.926G>A (p.Ser309Asn)
4g.47406871G>CCA356811914GABRB1c.1025G>C (p.Ser342Thr)
c.1004G>C (p.Ser335Thr)
c.374G>C (p.Ser125Thr)
c.926G>C (p.Ser309Thr)
4g.47406871G>TCA356811916GABRB1c.1025G>T (p.Ser342Ile)
c.1004G>T (p.Ser335Ile)
c.374G>T (p.Ser125Ile)
c.926G>T (p.Ser309Ile)
4g.47406872C>ACA356811920GABRB1c.1026C>A (p.Ser342Arg)
c.1005C>A (p.Ser335Arg)
c.375C>A (p.Ser125Arg)
c.927C>A (p.Ser309Arg)
4g.47406872C>GCA356811922GABRB1c.1026C>G (p.Ser342Arg)
c.1005C>G (p.Ser335Arg)
c.375C>G (p.Ser125Arg)
c.927C>G (p.Ser309Arg)
4g.47406872C>TCA439245884GABRB1c.1026C>T (p.Ser342=)
c.1005C>T (p.Ser335=)
c.375C>T (p.Ser125=)
c.927C>T (p.Ser309=)
4g.47406873A>CCA356811924GABRB1c.1027A>C (p.Lys343Gln)
c.1006A>C (p.Lys336Gln)
c.376A>C (p.Lys126Gln)
c.928A>C (p.Lys310Gln)
4g.47406873A>GCA356811925GABRB1c.1027A>G (p.Lys343Glu)
c.1006A>G (p.Lys336Glu)
c.376A>G (p.Lys126Glu)
c.928A>G (p.Lys310Glu)
4g.47406873A>TCA356811927GABRB1c.1027A>T (p.Lys343Ter)
c.1006A>T (p.Lys336Ter)
c.376A>T (p.Lys126Ter)
c.928A>T (p.Lys310Ter)
4g.47406874A>CCA356811929GABRB1c.1028A>C (p.Lys343Thr)
c.1007A>C (p.Lys336Thr)
c.377A>C (p.Lys126Thr)
c.929A>C (p.Lys310Thr)
4g.47406874A>GCA356811930GABRB1c.1028A>G (p.Lys343Arg)
c.1007A>G (p.Lys336Arg)
c.377A>G (p.Lys126Arg)
c.929A>G (p.Lys310Arg)
4g.47406874A>TCA356811931GABRB1c.1028A>T (p.Lys343Ile)
c.1007A>T (p.Lys336Ile)
c.377A>T (p.Lys126Ile)
c.929A>T (p.Lys310Ile)
4g.47406875A=CA1455320574GABRB1c.1029A= (p.Lys343=)
c.1008A= (p.Lys336=)
c.378A= (p.Lys126=)
c.930A= (p.Lys310=)
4g.47406875A>CCA356811932GABRB1c.1029A>C (p.Lys343Asn)
c.1008A>C (p.Lys336Asn)
c.378A>C (p.Lys126Asn)
c.930A>C (p.Lys310Asn)
4g.47406875A>GCA2907724GABRB1c.1029A>G (p.Lys343=)
c.1008A>G (p.Lys336=)
c.378A>G (p.Lys126=)
c.930A>G (p.Lys310=)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
4g.47406875A>TCA356811933GABRB1c.1029A>T (p.Lys343Asn)
c.1008A>T (p.Lys336Asn)
c.378A>T (p.Lys126Asn)
c.930A>T (p.Lys310Asn)
4g.47406876C>ACA356811935GABRB1c.1030C>A (p.Gln344Lys)
c.1009C>A (p.Gln337Lys)
c.379C>A (p.Gln127Lys)
c.931C>A (p.Gln311Lys)
 gnomAD v4
4g.47406876C>GCA356811936GABRB1c.1030C>G (p.Gln344Glu)
c.1009C>G (p.Gln337Glu)
c.379C>G (p.Gln127Glu)
c.931C>G (p.Gln311Glu)
4g.47406876C>TCA356811934GABRB1c.1030C>T (p.Gln344Ter)
c.1009C>T (p.Gln337Ter)
c.379C>T (p.Gln127Ter)
c.931C>T (p.Gln311Ter)
4g.47406877A>CCA356811937GABRB1c.1031A>C (p.Gln344Pro)
c.1010A>C (p.Gln337Pro)
c.380A>C (p.Gln127Pro)
c.932A>C (p.Gln311Pro)
4g.47406877A>GCA356811938GABRB1c.1031A>G (p.Gln344Arg)
c.1010A>G (p.Gln337Arg)
c.380A>G (p.Gln127Arg)
c.932A>G (p.Gln311Arg)
4g.47406877A>TCA356811939GABRB1c.1031A>T (p.Gln344Leu)
c.1010A>T (p.Gln337Leu)
c.380A>T (p.Gln127Leu)
c.932A>T (p.Gln311Leu)
4g.47406878A>CCA356811940GABRB1c.1032A>C (p.Gln344His)
c.1011A>C (p.Gln337His)
c.381A>C (p.Gln127His)
c.933A>C (p.Gln311His)
4g.47406878A>GCA439245887GABRB1c.1032A>G (p.Gln344=)
c.1011A>G (p.Gln337=)
c.381A>G (p.Gln127=)
c.933A>G (p.Gln311=)
4g.47406878A>TCA356811941GABRB1c.1032A>T (p.Gln344His)
c.1011A>T (p.Gln337His)
c.381A>T (p.Gln127His)
c.933A>T (p.Gln311His)
4g.47406879G>ACA2907725GABRB1c.1033G>A (p.Asp345Asn)
c.1012G>A (p.Asp338Asn)
c.382G>A (p.Asp128Asn)
c.934G>A (p.Asp312Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.47406879G>CCA356811942GABRB1c.1033G>C (p.Asp345His)
c.1012G>C (p.Asp338His)
c.382G>C (p.Asp128His)
c.934G>C (p.Asp312His)
 ClinVar dbSNP gnomAD v4
4g.47406879G=CA1455320578GABRB1c.1033G= (p.Asp345=)
c.1012G= (p.Asp338=)
c.382G= (p.Asp128=)
c.934G= (p.Asp312=)
4g.47406879G>TCA356811943GABRB1c.1033G>T (p.Asp345Tyr)
c.1012G>T (p.Asp338Tyr)
c.382G>T (p.Asp128Tyr)
c.934G>T (p.Asp312Tyr)
4g.47406880A=CA1455320586GABRB1c.1034A= (p.Asp345=)
c.1013A= (p.Asp338=)
c.383A= (p.Asp128=)
c.935A= (p.Asp312=)
4g.47406880A>CCA356811944GABRB1c.1034A>C (p.Asp345Ala)
c.1013A>C (p.Asp338Ala)
c.383A>C (p.Asp128Ala)
c.935A>C (p.Asp312Ala)
4g.47406880A>GCA356811945GABRB1c.1034A>G (p.Asp345Gly)
c.1013A>G (p.Asp338Gly)
c.383A>G (p.Asp128Gly)
c.935A>G (p.Asp312Gly)
4g.47406880A>TCA356811946GABRB1c.1034A>T (p.Asp345Val)
c.1013A>T (p.Asp338Val)
c.383A>T (p.Asp128Val)
c.935A>T (p.Asp312Val)
 dbSNP gnomAD v3 gnomAD v4
4g.47406881C>ACA356811947GABRB1c.1035C>A (p.Asp345Glu)
c.1014C>A (p.Asp338Glu)
c.384C>A (p.Asp128Glu)
c.936C>A (p.Asp312Glu)
4g.47406881C=CA1455320589GABRB1c.1035C= (p.Asp345=)
c.1014C= (p.Asp338=)
c.384C= (p.Asp128=)
c.936C= (p.Asp312=)
4g.47406881C>GCA356811948GABRB1c.1035C>G (p.Asp345Glu)
c.1014C>G (p.Asp338Glu)
c.384C>G (p.Asp128Glu)
c.936C>G (p.Asp312Glu)
4g.47406881C>TCA439245890GABRB1c.1035C>T (p.Asp345=)
c.1014C>T (p.Asp338=)
c.384C>T (p.Asp128=)
c.936C>T (p.Asp312=)
 dbSNP gnomAD v2
4g.47406882C>ACA356811951GABRB1c.1036C>A (p.Gln346Lys)
c.1015C>A (p.Gln339Lys)
c.385C>A (p.Gln129Lys)
c.937C>A (p.Gln313Lys)
4g.47406882C>GCA356811950GABRB1c.1036C>G (p.Gln346Glu)
c.1015C>G (p.Gln339Glu)
c.385C>G (p.Gln129Glu)
c.937C>G (p.Gln313Glu)
4g.47406882C>TCA356811949GABRB1c.1036C>T (p.Gln346Ter)
c.1015C>T (p.Gln339Ter)
c.385C>T (p.Gln129Ter)
c.937C>T (p.Gln313Ter)
 COSMIC
4g.47406883A>CCA356811952GABRB1c.1037A>C (p.Gln346Pro)
c.1016A>C (p.Gln339Pro)
c.386A>C (p.Gln129Pro)
c.938A>C (p.Gln313Pro)
4g.47406883A>GCA356811953GABRB1c.1037A>G (p.Gln346Arg)
c.1016A>G (p.Gln339Arg)
c.386A>G (p.Gln129Arg)
c.938A>G (p.Gln313Arg)
 gnomAD v4
4g.47406883A>TCA356811954GABRB1c.1037A>T (p.Gln346Leu)
c.1016A>T (p.Gln339Leu)
c.386A>T (p.Gln129Leu)
c.938A>T (p.Gln313Leu)
4g.47406884G>ACA439245895GABRB1c.1038G>A (p.Gln346=)
c.1017G>A (p.Gln339=)
c.387G>A (p.Gln129=)
c.939G>A (p.Gln313=)
4g.47406884G>CCA356811955GABRB1c.1038G>C (p.Gln346His)
c.1017G>C (p.Gln339His)
c.387G>C (p.Gln129His)
c.939G>C (p.Gln313His)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.47406884G=CA1455320590GABRB1c.1038G= (p.Gln346=)
c.1017G= (p.Gln339=)
c.387G= (p.Gln129=)
c.939G= (p.Gln313=)
4g.47406884G>TCA356811956GABRB1c.1038G>T (p.Gln346His)
c.1017G>T (p.Gln339His)
c.387G>T (p.Gln129His)
c.939G>T (p.Gln313His)
4g.47406885A>CCA356811957GABRB1c.1039A>C (p.Ser347Arg)
c.1018A>C (p.Ser340Arg)
c.388A>C (p.Ser130Arg)
c.940A>C (p.Ser314Arg)
4g.47406885A>GCA356811958GABRB1c.1039A>G (p.Ser347Gly)
c.1018A>G (p.Ser340Gly)
c.388A>G (p.Ser130Gly)
c.940A>G (p.Ser314Gly)
 gnomAD v4
4g.47406885A>TCA356811959GABRB1c.1039A>T (p.Ser347Cys)
c.1018A>T (p.Ser340Cys)
c.388A>T (p.Ser130Cys)
c.940A>T (p.Ser314Cys)
4g.47406886G>ACA2907726GABRB1c.1040G>A (p.Ser347Asn)
c.1019G>A (p.Ser340Asn)
c.389G>A (p.Ser130Asn)
c.941G>A (p.Ser314Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.47406886G>CCA356811960GABRB1c.1040G>C (p.Ser347Thr)
c.1019G>C (p.Ser340Thr)
c.389G>C (p.Ser130Thr)
c.941G>C (p.Ser314Thr)
4g.47406886G=CA1455320593GABRB1c.1040G= (p.Ser347=)
c.1019G= (p.Ser340=)
c.389G= (p.Ser130=)
c.941G= (p.Ser314=)
4g.47406886G>TCA356811961GABRB1c.1040G>T (p.Ser347Ile)
c.1019G>T (p.Ser340Ile)
c.389G>T (p.Ser130Ile)
c.941G>T (p.Ser314Ile)
4g.47406887T>ACA356811962GABRB1c.1041T>A (p.Ser347Arg)
c.1020T>A (p.Ser340Arg)
c.390T>A (p.Ser130Arg)
c.942T>A (p.Ser314Arg)
4g.47406887T>CCA439245896GABRB1c.1041T>C (p.Ser347=)
c.1020T>C (p.Ser340=)
c.390T>C (p.Ser130=)
c.942T>C (p.Ser314=)
4g.47406887T>GCA2907727GABRB1c.1041T>G (p.Ser347Arg)
c.1020T>G (p.Ser340Arg)
c.390T>G (p.Ser130Arg)
c.942T>G (p.Ser314Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.47406887T=CA1455320598GABRB1c.1041T= (p.Ser347=)
c.1020T= (p.Ser340=)
c.390T= (p.Ser130=)
c.942T= (p.Ser314=)
4g.47406888G>ACA356811963GABRB1c.1042G>A (p.Ala348Thr)
c.1021G>A (p.Ala341Thr)
c.391G>A (p.Ala131Thr)
c.943G>A (p.Ala315Thr)
4g.47406888G>CCA356811965GABRB1c.1042G>C (p.Ala348Pro)
c.1021G>C (p.Ala341Pro)
c.391G>C (p.Ala131Pro)
c.943G>C (p.Ala315Pro)
4g.47406888G>TCA356811964GABRB1c.1042G>T (p.Ala348Ser)
c.1021G>T (p.Ala341Ser)
c.391G>T (p.Ala131Ser)
c.943G>T (p.Ala315Ser)
4g.47406889C>ACA356811966GABRB1c.1043C>A (p.Ala348Asp)
c.1022C>A (p.Ala341Asp)
c.392C>A (p.Ala131Asp)
c.944C>A (p.Ala315Asp)
 dbSNP
4g.47406889C=CA1455320603GABRB1c.1043C= (p.Ala348=)
c.1022C= (p.Ala341=)
c.392C= (p.Ala131=)
c.944C= (p.Ala315=)
4g.47406889C>GCA356811968GABRB1c.1043C>G (p.Ala348Gly)
c.1022C>G (p.Ala341Gly)
c.392C>G (p.Ala131Gly)
c.944C>G (p.Ala315Gly)
4g.47406889C>TCA356811967GABRB1c.1043C>T (p.Ala348Val)
c.1022C>T (p.Ala341Val)
c.392C>T (p.Ala131Val)
c.944C>T (p.Ala315Val)
 ClinVar gnomAD v4
4g.47406890C>ACA439245898GABRB1c.1044C>A (p.Ala348=)
c.1023C>A (p.Ala341=)
c.393C>A (p.Ala131=)
c.945C>A (p.Ala315=)
4g.47406890C=CA1455320607GABRB1c.1044C= (p.Ala348=)
c.1023C= (p.Ala341=)
c.393C= (p.Ala131=)
c.945C= (p.Ala315=)
4g.47406890C>GCA439245900GABRB1c.1044C>G (p.Ala348=)
c.1023C>G (p.Ala341=)
c.393C>G (p.Ala131=)
c.945C>G (p.Ala315=)
 dbSNP gnomAD v2 gnomAD v4
4g.47406890C>TCA439245899GABRB1c.1044C>T (p.Ala348=)
c.1023C>T (p.Ala341=)
c.393C>T (p.Ala131=)
c.945C>T (p.Ala315=)
4g.47406891A>CCA356811969GABRB1c.1045A>C (p.Asn349His)
c.1024A>C (p.Asn342His)
c.394A>C (p.Asn132His)
c.946A>C (p.Asn316His)
4g.47406891A>GCA356811971GABRB1c.1045A>G (p.Asn349Asp)
c.1024A>G (p.Asn342Asp)
c.394A>G (p.Asn132Asp)
c.946A>G (p.Asn316Asp)
 ClinVar
4g.47406891A>TCA356811970GABRB1c.1045A>T (p.Asn349Tyr)
c.1024A>T (p.Asn342Tyr)
c.394A>T (p.Asn132Tyr)
c.946A>T (p.Asn316Tyr)
4g.47406892A>CCA356811972GABRB1c.1046A>C (p.Asn349Thr)
c.1025A>C (p.Asn342Thr)
c.395A>C (p.Asn132Thr)
c.947A>C (p.Asn316Thr)
4g.47406892A>GCA356811974GABRB1c.1046A>G (p.Asn349Ser)
c.1025A>G (p.Asn342Ser)
c.395A>G (p.Asn132Ser)
c.947A>G (p.Asn316Ser)
4g.47406892A>TCA356811973GABRB1c.1046A>T (p.Asn349Ile)
c.1025A>T (p.Asn342Ile)
c.395A>T (p.Asn132Ile)
c.947A>T (p.Asn316Ile)
4g.47406893T>ACA356811975GABRB1c.1047T>A (p.Asn349Lys)
c.1026T>A (p.Asn342Lys)
c.396T>A (p.Asn132Lys)
c.948T>A (p.Asn316Lys)
4g.47406893T>CCA439245901GABRB1c.1047T>C (p.Asn349=)
c.1026T>C (p.Asn342=)
c.396T>C (p.Asn132=)
c.948T>C (p.Asn316=)
 ClinVar
4g.47406893T>GCA356811976GABRB1c.1047T>G (p.Asn349Lys)
c.1026T>G (p.Asn342Lys)
c.396T>G (p.Asn132Lys)
c.948T>G (p.Asn316Lys)
 dbSNP gnomAD v2 gnomAD v4
4g.47406893T=CA1455320609GABRB1c.1047T= (p.Asn349=)
c.1026T= (p.Asn342=)
c.396T= (p.Asn132=)
c.948T= (p.Asn316=)
4g.47406894G>ACA356811977GABRB1c.1048G>A (p.Glu350Lys)
c.1027G>A (p.Glu343Lys)
c.397G>A (p.Glu133Lys)
c.949G>A (p.Glu317Lys)
 gnomAD v4
4g.47406894G>CCA356811978GABRB1c.1048G>C (p.Glu350Gln)
c.1027G>C (p.Glu343Gln)
c.397G>C (p.Glu133Gln)
c.949G>C (p.Glu317Gln)
4g.47406894G=CA1455320613GABRB1c.1048G= (p.Glu350=)
c.1027G= (p.Glu343=)
c.397G= (p.Glu133=)
c.949G= (p.Glu317=)
4g.47406894G>TCA2907728GABRB1c.1048G>T (p.Glu350Ter)
c.1027G>T (p.Glu343Ter)
c.397G>T (p.Glu133Ter)
c.949G>T (p.Glu317Ter)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.47406895A>CCA356811979GABRB1c.1049A>C (p.Glu350Ala)
c.1028A>C (p.Glu343Ala)
c.398A>C (p.Glu133Ala)
c.950A>C (p.Glu317Ala)
4g.47406895A>GCA356811980GABRB1c.1049A>G (p.Glu350Gly)
c.1028A>G (p.Glu343Gly)
c.398A>G (p.Glu133Gly)
c.950A>G (p.Glu317Gly)
4g.47406895A>TCA356811981GABRB1c.1049A>T (p.Glu350Val)
c.1028A>T (p.Glu343Val)
c.398A>T (p.Glu133Val)
c.950A>T (p.Glu317Val)
4g.47406899_47406901delCA645538230GABRB1c.1053_1055del (p.Lys351del)
c.1032_1034del (p.Lys344del)
c.402_404del (p.Lys134del)
c.954_956del (p.Lys318del)
 COSMIC
4g.47406896G>ACA439245903GABRB1c.1050G>A (p.Glu350=)
c.1029G>A (p.Glu343=)
c.399G>A (p.Glu133=)
c.951G>A (p.Glu317=)
 COSMIC
4g.47406896G>CCA356811982GABRB1c.1050G>C (p.Glu350Asp)
c.1029G>C (p.Glu343Asp)
c.399G>C (p.Glu133Asp)
c.951G>C (p.Glu317Asp)
4g.47406896G>TCA356811983GABRB1c.1050G>T (p.Glu350Asp)
c.1029G>T (p.Glu343Asp)
c.399G>T (p.Glu133Asp)
c.951G>T (p.Glu317Asp)
 gnomAD v4
4g.47406897A>CCA356811986GABRB1c.1051A>C (p.Lys351Gln)
c.1030A>C (p.Lys344Gln)
c.400A>C (p.Lys134Gln)
c.952A>C (p.Lys318Gln)
4g.47406897A>GCA356811985GABRB1c.1051A>G (p.Lys351Glu)
c.1030A>G (p.Lys344Glu)
c.400A>G (p.Lys134Glu)
c.952A>G (p.Lys318Glu)
4g.47406897A>TCA356811984GABRB1c.1051A>T (p.Lys351Ter)
c.1030A>T (p.Lys344Ter)
c.400A>T (p.Lys134Ter)
c.952A>T (p.Lys318Ter)
4g.47406898A>CCA356811987GABRB1c.1052A>C (p.Lys351Thr)
c.1031A>C (p.Lys344Thr)
c.401A>C (p.Lys134Thr)
c.953A>C (p.Lys318Thr)
4g.47406898A>GCA356811988GABRB1c.1052A>G (p.Lys351Arg)
c.1031A>G (p.Lys344Arg)
c.401A>G (p.Lys134Arg)
c.953A>G (p.Lys318Arg)
4g.47406898A>TCA356811989GABRB1c.1052A>T (p.Lys351Met)
c.1031A>T (p.Lys344Met)
c.401A>T (p.Lys134Met)
c.953A>T (p.Lys318Met)
4g.47406899G>ACA439245907GABRB1c.1053G>A (p.Lys351=)
c.1032G>A (p.Lys344=)
c.402G>A (p.Lys134=)
c.954G>A (p.Lys318=)
 gnomAD v4
4g.47406899G>CCA356811990GABRB1c.1053G>C (p.Lys351Asn)
c.1032G>C (p.Lys344Asn)
c.402G>C (p.Lys134Asn)
c.954G>C (p.Lys318Asn)
4g.47406899G>TCA356811991GABRB1c.1053G>T (p.Lys351Asn)
c.1032G>T (p.Lys344Asn)
c.402G>T (p.Lys134Asn)
c.954G>T (p.Lys318Asn)
 COSMIC
4g.47406900A>CCA356811992GABRB1c.1054A>C (p.Asn352His)
c.1033A>C (p.Asn345His)
c.403A>C (p.Asn135His)
c.955A>C (p.Asn319His)
4g.47406900A>GCA356811993GABRB1c.1054A>G (p.Asn352Asp)
c.1033A>G (p.Asn345Asp)
c.403A>G (p.Asn135Asp)
c.955A>G (p.Asn319Asp)
 ClinVar dbSNP
4g.47406900A>TCA356811994GABRB1c.1054A>T (p.Asn352Tyr)
c.1033A>T (p.Asn345Tyr)
c.403A>T (p.Asn135Tyr)
c.955A>T (p.Asn319Tyr)
 gnomAD v4
4g.47406901A>CCA356811995GABRB1c.1055A>C (p.Asn352Thr)
c.1034A>C (p.Asn345Thr)
c.404A>C (p.Asn135Thr)
c.956A>C (p.Asn319Thr)
4g.47406901A>GCA356811996GABRB1c.1055A>G (p.Asn352Ser)
c.1034A>G (p.Asn345Ser)
c.404A>G (p.Asn135Ser)
c.956A>G (p.Asn319Ser)
4g.47406901A>TCA356811997GABRB1c.1055A>T (p.Asn352Ile)
c.1034A>T (p.Asn345Ile)
c.404A>T (p.Asn135Ile)
c.956A>T (p.Asn319Ile)
4g.47406902T>ACA356811999GABRB1c.1056T>A (p.Asn352Lys)
c.1035T>A (p.Asn345Lys)
c.405T>A (p.Asn135Lys)
c.957T>A (p.Asn319Lys)
4g.47406902T>CCA439245908GABRB1c.1056T>C (p.Asn352=)
c.1035T>C (p.Asn345=)
c.405T>C (p.Asn135=)
c.957T>C (p.Asn319=)
4g.47406902T>GCA356811998GABRB1c.1056T>G (p.Asn352Lys)
c.1035T>G (p.Asn345Lys)
c.405T>G (p.Asn135Lys)
c.957T>G (p.Asn319Lys)
4g.47406903A>CCA356812000GABRB1c.1057A>C (p.Lys353Gln)
c.1036A>C (p.Lys346Gln)
c.406A>C (p.Lys136Gln)
c.958A>C (p.Lys320Gln)
4g.47406903A>GCA356812001GABRB1c.1057A>G (p.Lys353Glu)
c.1036A>G (p.Lys346Glu)
c.406A>G (p.Lys136Glu)
c.958A>G (p.Lys320Glu)
4g.47406903A>TCA356812002GABRB1c.1057A>T (p.Lys353Ter)
c.1036A>T (p.Lys346Ter)
c.406A>T (p.Lys136Ter)
c.958A>T (p.Lys320Ter)
4g.47406904A>CCA356812003GABRB1c.1058A>C (p.Lys353Thr)
c.1037A>C (p.Lys346Thr)
c.407A>C (p.Lys136Thr)
c.959A>C (p.Lys320Thr)
 gnomAD v4
4g.47406904A>GCA356812004GABRB1c.1058A>G (p.Lys353Arg)
c.1037A>G (p.Lys346Arg)
c.407A>G (p.Lys136Arg)
c.959A>G (p.Lys320Arg)
4g.47406904A>TCA356812005GABRB1c.1058A>T (p.Lys353Ile)
c.1037A>T (p.Lys346Ile)
c.407A>T (p.Lys136Ile)
c.959A>T (p.Lys320Ile)
4g.47406905A>CCA356812006GABRB1c.1059A>C (p.Lys353Asn)
c.1038A>C (p.Lys346Asn)
c.408A>C (p.Lys136Asn)
c.960A>C (p.Lys320Asn)
4g.47406905A>GCA439245912GABRB1c.1059A>G (p.Lys353=)
c.1038A>G (p.Lys346=)
c.408A>G (p.Lys136=)
c.960A>G (p.Lys320=)
4g.47406905A>TCA356812007GABRB1c.1059A>T (p.Lys353Asn)
c.1038A>T (p.Lys346Asn)
c.408A>T (p.Lys136Asn)
c.960A>T (p.Lys320Asn)
4g.47406906C>ACA356812008GABRB1c.1060C>A (p.Leu354Met)
c.1039C>A (p.Leu347Met)
c.409C>A (p.Leu137Met)
c.961C>A (p.Leu321Met)
 dbSNP
4g.47406906C=CA1455320616GABRB1c.1060C= (p.Leu354=)
c.1039C= (p.Leu347=)
c.409C= (p.Leu137=)
c.961C= (p.Leu321=)
4g.47406906C>GCA356812009GABRB1c.1060C>G (p.Leu354Val)
c.1039C>G (p.Leu347Val)
c.409C>G (p.Leu137Val)
c.961C>G (p.Leu321Val)
 gnomAD v4
4g.47406906C>TCA439245913GABRB1c.1060C>T (p.Leu354=)
c.1039C>T (p.Leu347=)
c.409C>T (p.Leu137=)
c.961C>T (p.Leu321=)
4g.47406907T>ACA356812010GABRB1c.1061T>A (p.Leu354Gln)
c.1040T>A (p.Leu347Gln)
c.410T>A (p.Leu137Gln)
c.962T>A (p.Leu321Gln)
 dbSNP gnomAD v2 gnomAD v4
4g.47406907T>CCA356812011GABRB1c.1061T>C (p.Leu354Pro)
c.1040T>C (p.Leu347Pro)
c.410T>C (p.Leu137Pro)
c.962T>C (p.Leu321Pro)
4g.47406907T>GCA356812012GABRB1c.1061T>G (p.Leu354Arg)
c.1040T>G (p.Leu347Arg)
c.410T>G (p.Leu137Arg)
c.962T>G (p.Leu321Arg)
4g.47406907T=CA1455320621GABRB1c.1061T= (p.Leu354=)
c.1040T= (p.Leu347=)
c.410T= (p.Leu137=)
c.962T= (p.Leu321=)
4g.47406908G>ACA439245914GABRB1c.1062G>A (p.Leu354=)
c.1041G>A (p.Leu347=)
c.411G>A (p.Leu137=)
c.963G>A (p.Leu321=)
 dbSNP gnomAD v2
4g.47406908G>CCA439245915GABRB1c.1062G>C (p.Leu354=)
c.1041G>C (p.Leu347=)
c.411G>C (p.Leu137=)
c.963G>C (p.Leu321=)
4g.47406908G=CA1455320623GABRB1c.1062G= (p.Leu354=)
c.1041G= (p.Leu347=)
c.411G= (p.Leu137=)
c.963G= (p.Leu321=)
4g.47406908G>TCA439245916GABRB1c.1062G>T (p.Leu354=)
c.1041G>T (p.Leu347=)
c.411G>T (p.Leu137=)
c.963G>T (p.Leu321=)
4g.47406909G>ACA356812013GABRB1c.1063G>A (p.Glu355Lys)
c.1042G>A (p.Glu348Lys)
c.412G>A (p.Glu138Lys)
c.964G>A (p.Glu322Lys)
 gnomAD v4
4g.47406909G>CCA356812015GABRB1c.1063G>C (p.Glu355Gln)
c.1042G>C (p.Glu348Gln)
c.412G>C (p.Glu138Gln)
c.964G>C (p.Glu322Gln)
4g.47406909G>TCA356812014GABRB1c.1063G>T (p.Glu355Ter)
c.1042G>T (p.Glu348Ter)
c.412G>T (p.Glu138Ter)
c.964G>T (p.Glu322Ter)
4g.47406910A=CA1455320625GABRB1c.1064A= (p.Glu355=)
c.1043A= (p.Glu348=)
c.413A= (p.Glu138=)
c.965A= (p.Glu322=)
4g.47406910A>CCA356812016GABRB1c.1064A>C (p.Glu355Ala)
c.1043A>C (p.Glu348Ala)
c.413A>C (p.Glu138Ala)
c.965A>C (p.Glu322Ala)
4g.47406910A>GCA2907729GABRB1c.1064A>G (p.Glu355Gly)
c.1043A>G (p.Glu348Gly)
c.413A>G (p.Glu138Gly)
c.965A>G (p.Glu322Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.47406910A>TCA356812017GABRB1c.1064A>T (p.Glu355Val)
c.1043A>T (p.Glu348Val)
c.413A>T (p.Glu138Val)
c.965A>T (p.Glu322Val)
4g.47406911G>ACA439245918GABRB1c.1065G>A (p.Glu355=)
c.1044G>A (p.Glu348=)
c.414G>A (p.Glu138=)
c.966G>A (p.Glu322=)
 ClinVar
4g.47406911G>CCA356812018GABRB1c.1065G>C (p.Glu355Asp)
c.1044G>C (p.Glu348Asp)
c.414G>C (p.Glu138Asp)
c.966G>C (p.Glu322Asp)
4g.47406911G>TCA356812019GABRB1c.1065G>T (p.Glu355Asp)
c.1044G>T (p.Glu348Asp)
c.414G>T (p.Glu138Asp)
c.966G>T (p.Glu322Asp)
4g.47406912A>CCA356812020GABRB1c.1066A>C (p.Met356Leu)
c.1045A>C (p.Met349Leu)
c.415A>C (p.Met139Leu)
c.967A>C (p.Met323Leu)
4g.47406912A>GCA356812021GABRB1c.1066A>G (p.Met356Val)
c.1045A>G (p.Met349Val)
c.415A>G (p.Met139Val)
c.967A>G (p.Met323Val)
4g.47406912A>TCA356812022GABRB1c.1066A>T (p.Met356Leu)
c.1045A>T (p.Met349Leu)
c.415A>T (p.Met139Leu)
c.967A>T (p.Met323Leu)
4g.47406913T>ACA356812023GABRB1c.1067T>A (p.Met356Lys)
c.1046T>A (p.Met349Lys)
c.416T>A (p.Met139Lys)
c.968T>A (p.Met323Lys)
4g.47406913T>CCA356812024GABRB1c.1067T>C (p.Met356Thr)
c.1046T>C (p.Met349Thr)
c.416T>C (p.Met139Thr)
c.968T>C (p.Met323Thr)
 dbSNP gnomAD v2 gnomAD v4
4g.47406913T>GCA356812025GABRB1c.1067T>G (p.Met356Arg)
c.1046T>G (p.Met349Arg)
c.416T>G (p.Met139Arg)
c.968T>G (p.Met323Arg)
 gnomAD v4
4g.47406913T=CA1455320630GABRB1c.1067T= (p.Met356=)
c.1046T= (p.Met349=)
c.416T= (p.Met139=)
c.968T= (p.Met323=)
4g.47406914G>ACA356812027GABRB1c.1068G>A (p.Met356Ile)
c.1047G>A (p.Met349Ile)
c.417G>A (p.Met139Ile)
c.969G>A (p.Met323Ile)
 gnomAD v4
4g.47406914G>CCA356812028GABRB1c.1068G>C (p.Met356Ile)
c.1047G>C (p.Met349Ile)
c.417G>C (p.Met139Ile)
c.969G>C (p.Met323Ile)
4g.47406914G>TCA356812026GABRB1c.1068G>T (p.Met356Ile)
c.1047G>T (p.Met349Ile)
c.417G>T (p.Met139Ile)
c.969G>T (p.Met323Ile)
4g.47406915A>CCA356812031GABRB1c.1069A>C (p.Asn357His)
c.1048A>C (p.Asn350His)
c.418A>C (p.Asn140His)
c.970A>C (p.Asn324His)
4g.47406915A>GCA356812029GABRB1c.1069A>G (p.Asn357Asp)
c.1048A>G (p.Asn350Asp)
c.418A>G (p.Asn140Asp)
c.970A>G (p.Asn324Asp)
4g.47406915A>TCA356812030GABRB1c.1069A>T (p.Asn357Tyr)
c.1048A>T (p.Asn350Tyr)
c.418A>T (p.Asn140Tyr)
c.970A>T (p.Asn324Tyr)
4g.47406916A=CA1455320632GABRB1c.1070A= (p.Asn357=)
c.1049A= (p.Asn350=)
c.419A= (p.Asn140=)
c.971A= (p.Asn324=)
4g.47406916A>CCA356812032GABRB1c.1070A>C (p.Asn357Thr)
c.1049A>C (p.Asn350Thr)
c.419A>C (p.Asn140Thr)
c.971A>C (p.Asn324Thr)
4g.47406916A>GCA356812033GABRB1c.1070A>G (p.Asn357Ser)
c.1049A>G (p.Asn350Ser)
c.419A>G (p.Asn140Ser)
c.971A>G (p.Asn324Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.47406916A>TCA356812034GABRB1c.1070A>T (p.Asn357Ile)
c.1049A>T (p.Asn350Ile)
c.419A>T (p.Asn140Ile)
c.971A>T (p.Asn324Ile)
4g.47406917T>ACA356812035GABRB1c.1071T>A (p.Asn357Lys)
c.1050T>A (p.Asn350Lys)
c.420T>A (p.Asn140Lys)
c.972T>A (p.Asn324Lys)
4g.47406917T>CCA439245922GABRB1c.1071T>C (p.Asn357=)
c.1050T>C (p.Asn350=)
c.420T>C (p.Asn140=)
c.972T>C (p.Asn324=)
4g.47406917T>GCA356812036GABRB1c.1071T>G (p.Asn357Lys)
c.1050T>G (p.Asn350Lys)
c.420T>G (p.Asn140Lys)
c.972T>G (p.Asn324Lys)
4g.47406918A=CA1455320636GABRB1c.1072A= (p.Lys358=)
c.1051A= (p.Lys351=)
c.421A= (p.Lys141=)
c.973A= (p.Lys325=)
4g.47406918A>CCA356812037GABRB1c.1072A>C (p.Lys358Gln)
c.1051A>C (p.Lys351Gln)
c.421A>C (p.Lys141Gln)
c.973A>C (p.Lys325Gln)
4g.47406918A>GCA2907730GABRB1c.1072A>G (p.Lys358Glu)
c.1051A>G (p.Lys351Glu)
c.421A>G (p.Lys141Glu)
c.973A>G (p.Lys325Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.47406918A>TCA356812038GABRB1c.1072A>T (p.Lys358Ter)
c.1051A>T (p.Lys351Ter)
c.421A>T (p.Lys141Ter)
c.973A>T (p.Lys325Ter)
4g.47406919A=CA1455320639GABRB1c.1073A= (p.Lys358=)
c.1052A= (p.Lys351=)
c.422A= (p.Lys141=)
c.974A= (p.Lys325=)
4g.47406919A>CCA356812039GABRB1c.1073A>C (p.Lys358Thr)
c.1052A>C (p.Lys351Thr)
c.422A>C (p.Lys141Thr)
c.974A>C (p.Lys325Thr)
4g.47406919A>GCA356812040GABRB1c.1073A>G (p.Lys358Arg)
c.1052A>G (p.Lys351Arg)
c.422A>G (p.Lys141Arg)
c.974A>G (p.Lys325Arg)
4g.47406919A>TCA356812041GABRB1c.1073A>T (p.Lys358Ile)
c.1052A>T (p.Lys351Ile)
c.422A>T (p.Lys141Ile)
c.974A>T (p.Lys325Ile)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.47406920A>CCA356812042GABRB1c.1074A>C (p.Lys358Asn)
c.1053A>C (p.Lys351Asn)
c.423A>C (p.Lys141Asn)
c.975A>C (p.Lys325Asn)
4g.47406920A>GCA439245926GABRB1c.1074A>G (p.Lys358=)
c.1053A>G (p.Lys351=)
c.423A>G (p.Lys141=)
c.975A>G (p.Lys325=)
4g.47406920A>TCA356812043GABRB1c.1074A>T (p.Lys358Asn)
c.1053A>T (p.Lys351Asn)
c.423A>T (p.Lys141Asn)
c.975A>T (p.Lys325Asn)
4g.47406921G>ACA356812044GABRB1c.1075G>A (p.Val359Ile)
c.1054G>A (p.Val352Ile)
c.424G>A (p.Val142Ile)
c.976G>A (p.Val326Ile)
 ClinVar
4g.47406921G>CCA356812045GABRB1c.1075G>C (p.Val359Leu)
c.1054G>C (p.Val352Leu)
c.424G>C (p.Val142Leu)
c.976G>C (p.Val326Leu)
4g.47406921G=CA1455320641GABRB1c.1075G= (p.Val359=)
c.1054G= (p.Val352=)
c.424G= (p.Val142=)
c.976G= (p.Val326=)
4g.47406921G>TCA356812046GABRB1c.1075G>T (p.Val359Phe)
c.1054G>T (p.Val352Phe)
c.424G>T (p.Val142Phe)
c.976G>T (p.Val326Phe)
 dbSNP
4g.47406922T>ACA356812047GABRB1c.1076T>A (p.Val359Asp)
c.1055T>A (p.Val352Asp)
c.425T>A (p.Val142Asp)
c.977T>A (p.Val326Asp)
4g.47406922T>CCA356812048GABRB1c.1076T>C (p.Val359Ala)
c.1055T>C (p.Val352Ala)
c.425T>C (p.Val142Ala)
c.977T>C (p.Val326Ala)
4g.47406922T>GCA356812049GABRB1c.1076T>G (p.Val359Gly)
c.1055T>G (p.Val352Gly)
c.425T>G (p.Val142Gly)
c.977T>G (p.Val326Gly)
4g.47406923C>ACA439245927GABRB1c.1077C>A (p.Val359=)
c.1056C>A (p.Val352=)
c.426C>A (p.Val142=)
c.978C>A (p.Val326=)
4g.47406923C=CA1455320643GABRB1c.1077C= (p.Val359=)
c.1056C= (p.Val352=)
c.426C= (p.Val142=)
c.978C= (p.Val326=)
4g.47406923C>GCA439245928GABRB1c.1077C>G (p.Val359=)
c.1056C>G (p.Val352=)
c.426C>G (p.Val142=)
c.978C>G (p.Val326=)
4g.47406923C>TCA439245929GABRB1c.1077C>T (p.Val359=)
c.1056C>T (p.Val352=)
c.426C>T (p.Val142=)
c.978C>T (p.Val326=)
 dbSNP gnomAD v4
4g.47406924C>ACA356812050GABRB1c.1078C>A (p.Gln360Lys)
c.1057C>A (p.Gln353Lys)
c.427C>A (p.Gln143Lys)
c.979C>A (p.Gln327Lys)
4g.47406924C>GCA356812051GABRB1c.1078C>G (p.Gln360Glu)
c.1057C>G (p.Gln353Glu)
c.427C>G (p.Gln143Glu)
c.979C>G (p.Gln327Glu)
4g.47406924C>TCA356812052GABRB1c.1078C>T (p.Gln360Ter)
c.1057C>T (p.Gln353Ter)
c.427C>T (p.Gln143Ter)
c.979C>T (p.Gln327Ter)
4g.47406925A>CCA356812053GABRB1c.1079A>C (p.Gln360Pro)
c.1058A>C (p.Gln353Pro)
c.428A>C (p.Gln143Pro)
c.980A>C (p.Gln327Pro)
4g.47406925A>GCA356812054GABRB1c.1079A>G (p.Gln360Arg)
c.1058A>G (p.Gln353Arg)
c.428A>G (p.Gln143Arg)
c.980A>G (p.Gln327Arg)
4g.47406925A>TCA356812055GABRB1c.1079A>T (p.Gln360Leu)
c.1058A>T (p.Gln353Leu)
c.428A>T (p.Gln143Leu)
c.980A>T (p.Gln327Leu)
4g.47406926G>ACA439245933GABRB1c.1080G>A (p.Gln360=)
c.1059G>A (p.Gln353=)
c.429G>A (p.Gln143=)
c.981G>A (p.Gln327=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
4g.47406926G>CCA2907731GABRB1c.1080G>C (p.Gln360His)
c.1059G>C (p.Gln353His)
c.429G>C (p.Gln143His)
c.981G>C (p.Gln327His)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.47406926G=CA1455320645GABRB1c.1080G= (p.Gln360=)
c.1059G= (p.Gln353=)
c.429G= (p.Gln143=)
c.981G= (p.Gln327=)
4g.47406926G>TCA356812056GABRB1c.1080G>T (p.Gln360His)
c.1059G>T (p.Gln353His)
c.429G>T (p.Gln143His)
c.981G>T (p.Gln327His)
4g.47406927G>ACA356812057GABRB1c.1080+1G>A (n.1080+1G>A)
c.1059+1G>A (n.1059+1G>A)
c.429+1G>A (n.429+1G>A)
c.981+1G>A (n.981+1G>A)
 ClinVar dbSNP gnomAD v3 gnomAD v4
4g.47406927G>CCA356812059GABRB1c.1080+1G>C (n.1080+1G>C)
c.1059+1G>C (n.1059+1G>C)
c.429+1G>C (n.429+1G>C)
c.981+1G>C (n.981+1G>C)
 gnomAD v4
4g.47406927G=CA1455320648GABRB1c.1080+1G= (n.1080+1G=)
c.1059+1G= (n.1059+1G=)
c.429+1G= (n.429+1G=)
c.981+1G= (n.981+1G=)
4g.47406927G>TCA356812058GABRB1c.1080+1G>T (n.1080+1G>T)
c.1059+1G>T (n.1059+1G>T)
c.429+1G>T (n.429+1G>T)
c.981+1G>T (n.981+1G>T)
4g.47406928T>ACA356812060GABRB1c.1080+2T>A (n.1080+2T>A)
c.1059+2T>A (n.1059+2T>A)
c.429+2T>A (n.429+2T>A)
c.981+2T>A (n.981+2T>A)
4g.47406928T>CCA356812061GABRB1c.1080+2T>C (n.1080+2T>C)
c.1059+2T>C (n.1059+2T>C)
c.429+2T>C (n.429+2T>C)
c.981+2T>C (n.981+2T>C)
4g.47406928T>GCA356812062GABRB1c.1080+2T>G (n.1080+2T>G)
c.1059+2T>G (n.1059+2T>G)
c.429+2T>G (n.429+2T>G)
c.981+2T>G (n.981+2T>G)
4g.47406930A>CCA2597226580GABRB1c.1080+4A>C (n.1080+4A>C)
c.1059+4A>C (n.1059+4A>C)
c.429+4A>C (n.429+4A>C)
c.981+4A>C (n.981+4A>C)
 dbSNP gnomAD v3 gnomAD v4
4g.47406931G>CCA2907732GABRB1c.1080+5G>C (n.1080+5G>C)
c.1059+5G>C (n.1059+5G>C)
c.429+5G>C (n.429+5G>C)
c.981+5G>C (n.981+5G>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.47406931G=CA1455320652GABRB1c.1080+5G= (n.1080+5G=)
c.1059+5G= (n.1059+5G=)
c.429+5G= (n.429+5G=)
c.981+5G= (n.981+5G=)
4g.47406931G>TCA551650072GABRB1c.1080+5G>T (n.1080+5G>T)
c.1059+5G>T (n.1059+5G>T)
c.429+5G>T (n.429+5G>T)
c.981+5G>T (n.981+5G>T)
 dbSNP gnomAD v2 gnomAD v4
4g.47406932A=CA1455320655GABRB1c.1080+6A= (n.1080+6A=)
c.1059+6A= (n.1059+6A=)
c.429+6A= (n.429+6A=)
c.981+6A= (n.981+6A=)
4g.47406932A>TCA551650073GABRB1c.1080+6A>T (n.1080+6A>T)
c.1059+6A>T (n.1059+6A>T)
c.429+6A>T (n.429+6A>T)
c.981+6A>T (n.981+6A>T)
 dbSNP gnomAD v2 gnomAD v4
4g.47406933T>CCA2580071041GABRB1c.1080+7T>C (n.1080+7T>C)
c.1059+7T>C (n.1059+7T>C)
c.429+7T>C (n.429+7T>C)
c.981+7T>C (n.981+7T>C)
 ClinVar
4g.47406935T>ACA2907733GABRB1c.1080+9T>A (n.1080+9T>A)
c.1059+9T>A (n.1059+9T>A)
c.429+9T>A (n.429+9T>A)
c.981+9T>A (n.981+9T>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.47406935T>CCA2907734GABRB1c.1080+9T>C (n.1080+9T>C)
c.1059+9T>C (n.1059+9T>C)
c.429+9T>C (n.429+9T>C)
c.981+9T>C (n.981+9T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.47406935T=CA1455320658GABRB1c.1080+9T= (n.1080+9T=)
c.1059+9T= (n.1059+9T=)
c.429+9T= (n.429+9T=)
c.981+9T= (n.981+9T=)
4g.47406937A>GCA2670529705GABRB1c.1080+11A>G (n.1080+11A>G)
c.1059+11A>G (n.1059+11A>G)
c.429+11A>G (n.429+11A>G)
c.981+11A>G (n.981+11A>G)
 gnomAD v4
4g.47406938A=CA1455320662GABRB1c.1080+12A= (n.1080+12A=)
c.1059+12A= (n.1059+12A=)
c.429+12A= (n.429+12A=)
c.981+12A= (n.981+12A=)
4g.47406938A>CCA1455320664GABRB1c.1080+12A>C (n.1080+12A>C)
c.1059+12A>C (n.1059+12A>C)
c.429+12A>C (n.429+12A>C)
c.981+12A>C (n.981+12A>C)
 dbSNP
4g.47406938A>GCA2578079464GABRB1c.1080+12A>G (n.1080+12A>G)
c.1059+12A>G (n.1059+12A>G)
c.429+12A>G (n.429+12A>G)
c.981+12A>G (n.981+12A>G)
4g.47406939A=CA1455320666GABRB1c.1080+13A= (n.1080+13A=)
c.1059+13A= (n.1059+13A=)
c.429+13A= (n.429+13A=)
c.981+13A= (n.981+13A=)
4g.47406939A>GCA97302427GABRB1c.1080+13A>G (n.1080+13A>G)
c.1059+13A>G (n.1059+13A>G)
c.429+13A>G (n.429+13A>G)
c.981+13A>G (n.981+13A>G)
 ClinVar dbSNP gnomAD v3 gnomAD v4
4g.47406942_47406947dupCA551650074GABRB1c.1080+16_1080+21dup (n.1080+16_1080+21dup)
c.1059+16_1059+21dup (n.1059+16_1059+21dup)
c.429+16_429+21dup (n.429+16_429+21dup)
c.981+16_981+21dup (n.981+16_981+21dup)
 ClinVar dbSNP gnomAD v2 gnomAD v4
4g.47406941A=CA1455320672GABRB1c.1080+15A= (n.1080+15A=)
c.1059+15A= (n.1059+15A=)
c.429+15A= (n.429+15A=)
c.981+15A= (n.981+15A=)
4g.47406941A>GCA551650075GABRB1c.1080+15A>G (n.1080+15A>G)
c.1059+15A>G (n.1059+15A>G)
c.429+15A>G (n.429+15A>G)
c.981+15A>G (n.981+15A>G)
 dbSNP gnomAD v2 gnomAD v4
4g.47406944C>ACA2670529706GABRB1c.1080+18C>A (n.1080+18C>A)
c.1059+18C>A (n.1059+18C>A)
c.429+18C>A (n.429+18C>A)
c.981+18C>A (n.981+18C>A)
 gnomAD v4
4g.47406944C=CA1455320674GABRB1c.1080+18C= (n.1080+18C=)
c.1059+18C= (n.1059+18C=)
c.429+18C= (n.429+18C=)
c.981+18C= (n.981+18C=)
4g.47406944C>TCA795469942GABRB1c.1080+18C>T (n.1080+18C>T)
c.1059+18C>T (n.1059+18C>T)
c.429+18C>T (n.429+18C>T)
c.981+18C>T (n.981+18C>T)
 dbSNP
4g.47406945C>ACA2907735GABRB1c.1080+19C>A (n.1080+19C>A)
c.1059+19C>A (n.1059+19C>A)
c.429+19C>A (n.429+19C>A)
c.981+19C>A (n.981+19C>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.47406945C=CA1455320678GABRB1c.1080+19C= (n.1080+19C=)
c.1059+19C= (n.1059+19C=)
c.429+19C= (n.429+19C=)
c.981+19C= (n.981+19C=)
4g.47406945C>GCA2907736GABRB1c.1080+19C>G (n.1080+19C>G)
c.1059+19C>G (n.1059+19C>G)
c.429+19C>G (n.429+19C>G)
c.981+19C>G (n.981+19C>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.47406946T>CCA2907737GABRB1c.1080+20T>C (n.1080+20T>C)
c.1059+20T>C (n.1059+20T>C)
c.429+20T>C (n.429+20T>C)
c.981+20T>C (n.981+20T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.47406946T=CA1455320680GABRB1c.1080+20T= (n.1080+20T=)
c.1059+20T= (n.1059+20T=)
c.429+20T= (n.429+20T=)
c.981+20T= (n.981+20T=)
4g.47406947A=CA1455320682GABRB1c.1080+21A= (n.1080+21A=)
c.1059+21A= (n.1059+21A=)
c.429+21A= (n.429+21A=)
c.981+21A= (n.981+21A=)
4g.47406947A>GCA2670529707GABRB1c.1080+21A>G (n.1080+21A>G)
c.1059+21A>G (n.1059+21A>G)
c.429+21A>G (n.429+21A>G)
c.981+21A>G (n.981+21A>G)
 gnomAD v4
4g.47406947A>TCA2907738GABRB1c.1080+21A>T (n.1080+21A>T)
c.1059+21A>T (n.1059+21A>T)
c.429+21A>T (n.429+21A>T)
c.981+21A>T (n.981+21A>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.47406948A>GCA2670529708GABRB1c.1080+22A>G (n.1080+22A>G)
c.1059+22A>G (n.1059+22A>G)
c.429+22A>G (n.429+22A>G)
c.981+22A>G (n.981+22A>G)
 gnomAD v4
4g.47406949C>ACA2907739GABRB1c.1080+23C>A (n.1080+23C>A)
c.1059+23C>A (n.1059+23C>A)
c.429+23C>A (n.429+23C>A)
c.981+23C>A (n.981+23C>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.47406949C=CA1455320684GABRB1c.1080+23C= (n.1080+23C=)
c.1059+23C= (n.1059+23C=)
c.429+23C= (n.429+23C=)
c.981+23C= (n.981+23C=)
4g.47406949C>GCA2578079465GABRB1c.1080+23C>G (n.1080+23C>G)
c.1059+23C>G (n.1059+23C>G)
c.429+23C>G (n.429+23C>G)
c.981+23C>G (n.981+23C>G)
 gnomAD v4
4g.47406950A=CA1455320686GABRB1c.1080+24A= (n.1080+24A=)
c.1059+24A= (n.1059+24A=)
c.429+24A= (n.429+24A=)
c.981+24A= (n.981+24A=)
4g.47406950A>GCA2907740GABRB1c.1080+24A>G (n.1080+24A>G)
c.1059+24A>G (n.1059+24A>G)
c.429+24A>G (n.429+24A>G)
c.981+24A>G (n.981+24A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.47406951A=CA1455320688GABRB1c.1080+25A= (n.1080+25A=)
c.1059+25A= (n.1059+25A=)
c.429+25A= (n.429+25A=)
c.981+25A= (n.981+25A=)
4g.47406951A>CCA2907741GABRB1c.1080+25A>C (n.1080+25A>C)
c.1059+25A>C (n.1059+25A>C)
c.429+25A>C (n.429+25A>C)
c.981+25A>C (n.981+25A>C)
 dbSNP ExAC gnomAD v2
4g.47406951A>GCA2578079466GABRB1c.1080+25A>G (n.1080+25A>G)
c.1059+25A>G (n.1059+25A>G)
c.429+25A>G (n.429+25A>G)
c.981+25A>G (n.981+25A>G)
 gnomAD v4
4g.47406952T>CCA1061956173GABRB1c.1080+26T>C (n.1080+26T>C)
c.1059+26T>C (n.1059+26T>C)
c.429+26T>C (n.429+26T>C)
c.981+26T>C (n.981+26T>C)
 dbSNP gnomAD v3 gnomAD v4
4g.47406952T>GCA2830536734GABRB1c.1080+26T>G (n.1080+26T>G)
c.1059+26T>G (n.1059+26T>G)
c.429+26T>G (n.429+26T>G)
c.981+26T>G (n.981+26T>G)
4g.47406952T=CA1455320691GABRB1c.1080+26T= (n.1080+26T=)
c.1059+26T= (n.1059+26T=)
c.429+26T= (n.429+26T=)
c.981+26T= (n.981+26T=)
4g.47406953_47406954delinsATCA1455320693GABRB1c.1080+27_1080+28delinsAT (n.1080+27_1080+28delinsAT)
c.1059+27_1059+28delinsAT (n.1059+27_1059+28delinsAT)
c.429+27_429+28delinsAT (n.429+27_429+28delinsAT)
c.981+27_981+28delinsAT (n.981+27_981+28delinsAT)
4g.47406954T>ACA2830536735GABRB1c.1080+28T>A (n.1080+28T>A)
c.1059+28T>A (n.1059+28T>A)
c.429+28T>A (n.429+28T>A)
c.981+28T>A (n.981+28T>A)
4g.47406955delCA1455320694GABRB1c.1080+29del (n.1080+29del)
c.1059+29del (n.1059+29del)
c.429+29del (n.429+29del)
c.981+29del (n.981+29del)
 dbSNP
4g.47406956C>ACA2830536736GABRB1c.1080+30C>A (n.1080+30C>A)
c.1059+30C>A (n.1059+30C>A)
c.429+30C>A (n.429+30C>A)
c.981+30C>A (n.981+30C>A)
4g.47406956C=CA1455320696GABRB1c.1080+30C= (n.1080+30C=)
c.1059+30C= (n.1059+30C=)
c.429+30C= (n.429+30C=)
c.981+30C= (n.981+30C=)
4g.47406956C>GCA97302428GABRB1c.1080+30C>G (n.1080+30C>G)
c.1059+30C>G (n.1059+30C>G)
c.429+30C>G (n.429+30C>G)
c.981+30C>G (n.981+30C>G)
 dbSNP gnomAD v2 gnomAD v4
4g.47406959G>CCA551650076GABRB1c.1080+33G>C (n.1080+33G>C)
c.1059+33G>C (n.1059+33G>C)
c.429+33G>C (n.429+33G>C)
c.981+33G>C (n.981+33G>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.47406959G=CA1455320698GABRB1c.1080+33G= (n.1080+33G=)
c.1059+33G= (n.1059+33G=)
c.429+33G= (n.429+33G=)
c.981+33G= (n.981+33G=)
4g.47406960T>ACA2907742GABRB1c.1080+34T>A (n.1080+34T>A)
c.1059+34T>A (n.1059+34T>A)
c.429+34T>A (n.429+34T>A)
c.981+34T>A (n.981+34T>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.47406960T>CCA2558941370GABRB1c.1080+34T>C (n.1080+34T>C)
c.1059+34T>C (n.1059+34T>C)
c.429+34T>C (n.429+34T>C)
c.981+34T>C (n.981+34T>C)
4g.47406960T=CA1455320699GABRB1c.1080+34T= (n.1080+34T=)
c.1059+34T= (n.1059+34T=)
c.429+34T= (n.429+34T=)
c.981+34T= (n.981+34T=)
4g.47406961T>ACA2670529709GABRB1c.1080+35T>A (n.1080+35T>A)
c.1059+35T>A (n.1059+35T>A)
c.429+35T>A (n.429+35T>A)
c.981+35T>A (n.981+35T>A)
 gnomAD v4
4g.47406961T>GCA2907743GABRB1c.1080+35T>G (n.1080+35T>G)
c.1059+35T>G (n.1059+35T>G)
c.429+35T>G (n.429+35T>G)
c.981+35T>G (n.981+35T>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.47406961T=CA1455320700GABRB1c.1080+35T= (n.1080+35T=)
c.1059+35T= (n.1059+35T=)
c.429+35T= (n.429+35T=)
c.981+35T= (n.981+35T=)
4g.47406963_47406971delCA2508027497GABRB1c.1080+37_1080+45del (n.1080+37_1080+45del)
c.1059+37_1059+45del (n.1059+37_1059+45del)
c.429+37_429+45del (n.429+37_429+45del)
c.981+37_981+45del (n.981+37_981+45del)
4g.47406962_47406963insGGCA2830536737GABRB1c.1080+36_1080+37insGG (n.1080+36_1080+37insGG)
c.1059+36_1059+37insGG (n.1059+36_1059+37insGG)
c.429+36_429+37insGG (n.429+36_429+37insGG)
c.981+36_981+37insGG (n.981+36_981+37insGG)
4g.47406963A>GCA2533068861GABRB1c.1080+37A>G (n.1080+37A>G)
c.1059+37A>G (n.1059+37A>G)
c.429+37A>G (n.429+37A>G)
c.981+37A>G (n.981+37A>G)

Number of alleles fetched