Chr Mutation (hg38) CAid Gene Transcript Linkouts
4g.47406706C>ACA356811259GABRB1c.860C>A (p.Thr287Lys)
c.839C>A (p.Thr280Lys)
c.209C>A (p.Thr70Lys)
c.761C>A (p.Thr254Lys)
 COSMIC
4g.47406706C=CA1455320415GABRB1c.860C= (p.Thr287=)
c.839C= (p.Thr280=)
c.209C= (p.Thr70=)
c.761C= (p.Thr254=)
4g.47406706C>GCA356811260GABRB1c.860C>G (p.Thr287Arg)
c.839C>G (p.Thr280Arg)
c.209C>G (p.Thr70Arg)
c.761C>G (p.Thr254Arg)
4g.47406706C>TCA10588847GABRB1c.860C>T (p.Thr287Ile)
c.839C>T (p.Thr280Ile)
c.209C>T (p.Thr70Ile)
c.761C>T (p.Thr254Ile)
 ClinVar dbSNP
4g.47406707A>CCA439245694GABRB1c.861A>C (p.Thr287=)
c.840A>C (p.Thr280=)
c.210A>C (p.Thr70=)
c.762A>C (p.Thr254=)
 gnomAD v4
4g.47406707A>GCA439245695GABRB1c.861A>G (p.Thr287=)
c.840A>G (p.Thr280=)
c.210A>G (p.Thr70=)
c.762A>G (p.Thr254=)
4g.47406707A>TCA439245696GABRB1c.861A>T (p.Thr287=)
c.840A>T (p.Thr280=)
c.210A>T (p.Thr70=)
c.762A>T (p.Thr254=)
4g.47406708A>CCA356811261GABRB1c.862A>C (p.Thr288Pro)
c.841A>C (p.Thr281Pro)
c.211A>C (p.Thr71Pro)
c.763A>C (p.Thr255Pro)
4g.47406708A>GCA356811263GABRB1c.862A>G (p.Thr288Ala)
c.841A>G (p.Thr281Ala)
c.211A>G (p.Thr71Ala)
c.763A>G (p.Thr255Ala)
 ClinVar
4g.47406708A>TCA356811262GABRB1c.862A>T (p.Thr288Ser)
c.841A>T (p.Thr281Ser)
c.211A>T (p.Thr71Ser)
c.763A>T (p.Thr255Ser)
4g.47406709C>ACA356811264GABRB1c.863C>A (p.Thr288Asn)
c.842C>A (p.Thr281Asn)
c.212C>A (p.Thr71Asn)
c.764C>A (p.Thr255Asn)
4g.47406709C>GCA356811265GABRB1c.863C>G (p.Thr288Ser)
c.842C>G (p.Thr281Ser)
c.212C>G (p.Thr71Ser)
c.764C>G (p.Thr255Ser)
4g.47406709C>TCA356811266GABRB1c.863C>T (p.Thr288Ile)
c.842C>T (p.Thr281Ile)
c.212C>T (p.Thr71Ile)
c.764C>T (p.Thr255Ile)
4g.47406710C>ACA97302420GABRB1c.864C>A (p.Thr288=)
c.843C>A (p.Thr281=)
c.213C>A (p.Thr71=)
c.765C>A (p.Thr255=)
 dbSNP gnomAD v2 gnomAD v4
4g.47406710C=CA1455320419GABRB1c.864C= (p.Thr288=)
c.843C= (p.Thr281=)
c.213C= (p.Thr71=)
c.765C= (p.Thr255=)
4g.47406710C>GCA439245697GABRB1c.864C>G (p.Thr288=)
c.843C>G (p.Thr281=)
c.213C>G (p.Thr71=)
c.765C>G (p.Thr255=)
4g.47406710C>TCA439245698GABRB1c.864C>T (p.Thr288=)
c.843C>T (p.Thr281=)
c.213C>T (p.Thr71=)
c.765C>T (p.Thr255=)
4g.47406711A>CCA356811267GABRB1c.865A>C (p.Ile289Leu)
c.844A>C (p.Ile282Leu)
c.214A>C (p.Ile72Leu)
c.766A>C (p.Ile256Leu)
4g.47406711A>GCA356811269GABRB1c.865A>G (p.Ile289Val)
c.844A>G (p.Ile282Val)
c.214A>G (p.Ile72Val)
c.766A>G (p.Ile256Val)
4g.47406711A>TCA356811268GABRB1c.865A>T (p.Ile289Phe)
c.844A>T (p.Ile282Phe)
c.214A>T (p.Ile72Phe)
c.766A>T (p.Ile256Phe)
4g.47406712T>ACA2907707GABRB1c.866T>A (p.Ile289Asn)
c.845T>A (p.Ile282Asn)
c.215T>A (p.Ile72Asn)
c.767T>A (p.Ile256Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.47406712T>CCA356811270GABRB1c.866T>C (p.Ile289Thr)
c.845T>C (p.Ile282Thr)
c.215T>C (p.Ile72Thr)
c.767T>C (p.Ile256Thr)
 ClinVar gnomAD v3 gnomAD v4
4g.47406712T>GCA356811271GABRB1c.866T>G (p.Ile289Ser)
c.845T>G (p.Ile282Ser)
c.215T>G (p.Ile72Ser)
c.767T>G (p.Ile256Ser)
4g.47406712T=CA1455320421GABRB1c.866T= (p.Ile289=)
c.845T= (p.Ile282=)
c.215T= (p.Ile72=)
c.767T= (p.Ile256=)
4g.47406713C>ACA439245741GABRB1c.867C>A (p.Ile289=)
c.846C>A (p.Ile282=)
c.216C>A (p.Ile72=)
c.768C>A (p.Ile256=)
4g.47406713C=CA1455320426GABRB1c.867C= (p.Ile289=)
c.846C= (p.Ile282=)
c.216C= (p.Ile72=)
c.768C= (p.Ile256=)
4g.47406713C>GCA356811272GABRB1c.867C>G (p.Ile289Met)
c.846C>G (p.Ile282Met)
c.216C>G (p.Ile72Met)
c.768C>G (p.Ile256Met)
4g.47406713C>TCA439245742GABRB1c.867C>T (p.Ile289=)
c.846C>T (p.Ile282=)
c.216C>T (p.Ile72=)
c.768C>T (p.Ile256=)
 dbSNP gnomAD v3 gnomAD v4
4g.47406714A>CCA356811273GABRB1c.868A>C (p.Ser290Arg)
c.847A>C (p.Ser283Arg)
c.217A>C (p.Ser73Arg)
c.769A>C (p.Ser257Arg)
4g.47406714A>GCA356811274GABRB1c.868A>G (p.Ser290Gly)
c.847A>G (p.Ser283Gly)
c.217A>G (p.Ser73Gly)
c.769A>G (p.Ser257Gly)
4g.47406714A>TCA356811275GABRB1c.868A>T (p.Ser290Cys)
c.847A>T (p.Ser283Cys)
c.217A>T (p.Ser73Cys)
c.769A>T (p.Ser257Cys)
4g.47406715G>ACA356811276GABRB1c.869G>A (p.Ser290Asn)
c.848G>A (p.Ser283Asn)
c.218G>A (p.Ser73Asn)
c.770G>A (p.Ser257Asn)
4g.47406715G>CCA356811277GABRB1c.869G>C (p.Ser290Thr)
c.848G>C (p.Ser283Thr)
c.218G>C (p.Ser73Thr)
c.770G>C (p.Ser257Thr)
4g.47406715G=CA1455320430GABRB1c.869G= (p.Ser290=)
c.848G= (p.Ser283=)
c.218G= (p.Ser73=)
c.770G= (p.Ser257=)
4g.47406715G>TCA97302421GABRB1c.869G>T (p.Ser290Ile)
c.848G>T (p.Ser283Ile)
c.218G>T (p.Ser73Ile)
c.770G>T (p.Ser257Ile)
 dbSNP
4g.47406716C>ACA356811278GABRB1c.870C>A (p.Ser290Arg)
c.849C>A (p.Ser283Arg)
c.219C>A (p.Ser73Arg)
c.771C>A (p.Ser257Arg)
4g.47406716C>GCA356811279GABRB1c.870C>G (p.Ser290Arg)
c.849C>G (p.Ser283Arg)
c.219C>G (p.Ser73Arg)
c.771C>G (p.Ser257Arg)
4g.47406716C>TCA439245746GABRB1c.870C>T (p.Ser290=)
c.849C>T (p.Ser283=)
c.219C>T (p.Ser73=)
c.771C>T (p.Ser257=)
 gnomAD v4
4g.47406717A>CCA356811280GABRB1c.871A>C (p.Thr291Pro)
c.850A>C (p.Thr284Pro)
c.220A>C (p.Thr74Pro)
c.772A>C (p.Thr258Pro)
4g.47406717A>GCA356811282GABRB1c.871A>G (p.Thr291Ala)
c.850A>G (p.Thr284Ala)
c.220A>G (p.Thr74Ala)
c.772A>G (p.Thr258Ala)
4g.47406717A>TCA356811281GABRB1c.871A>T (p.Thr291Ser)
c.850A>T (p.Thr284Ser)
c.220A>T (p.Thr74Ser)
c.772A>T (p.Thr258Ser)
4g.47406718C>ACA356811283GABRB1c.872C>A (p.Thr291Asn)
c.851C>A (p.Thr284Asn)
c.221C>A (p.Thr74Asn)
c.773C>A (p.Thr258Asn)
4g.47406718C>GCA356811284GABRB1c.872C>G (p.Thr291Ser)
c.851C>G (p.Thr284Ser)
c.221C>G (p.Thr74Ser)
c.773C>G (p.Thr258Ser)
4g.47406718C>TCA356811285GABRB1c.872C>T (p.Thr291Ile)
c.851C>T (p.Thr284Ile)
c.221C>T (p.Thr74Ile)
c.773C>T (p.Thr258Ile)
 COSMIC
4g.47406720dupCA645538228GABRB1c.874dup (p.His292ProfsTer16)
c.853dup (p.His285ProfsTer16)
c.223dup (p.His75ProfsTer16)
c.775dup (p.His259ProfsTer16)
 COSMIC
4g.47406719C>ACA439245748GABRB1c.873C>A (p.Thr291=)
c.852C>A (p.Thr284=)
c.222C>A (p.Thr74=)
c.774C>A (p.Thr258=)
4g.47406719C=CA1455320434GABRB1c.873C= (p.Thr291=)
c.852C= (p.Thr284=)
c.222C= (p.Thr74=)
c.774C= (p.Thr258=)
4g.47406719C>GCA439245750GABRB1c.873C>G (p.Thr291=)
c.852C>G (p.Thr284=)
c.222C>G (p.Thr74=)
c.774C>G (p.Thr258=)
4g.47406719C>TCA2907708GABRB1c.873C>T (p.Thr291=)
c.852C>T (p.Thr284=)
c.222C>T (p.Thr74=)
c.774C>T (p.Thr258=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.47406720C>ACA356811286GABRB1c.874C>A (p.His292Asn)
c.853C>A (p.His285Asn)
c.223C>A (p.His75Asn)
c.775C>A (p.His259Asn)
4g.47406720C>GCA356811287GABRB1c.874C>G (p.His292Asp)
c.853C>G (p.His285Asp)
c.223C>G (p.His75Asp)
c.775C>G (p.His259Asp)
4g.47406720C>TCA356811288GABRB1c.874C>T (p.His292Tyr)
c.853C>T (p.His285Tyr)
c.223C>T (p.His75Tyr)
c.775C>T (p.His259Tyr)
4g.47406721A>CCA356811289GABRB1c.875A>C (p.His292Pro)
c.854A>C (p.His285Pro)
c.224A>C (p.His75Pro)
c.776A>C (p.His259Pro)
4g.47406721A>GCA356811290GABRB1c.875A>G (p.His292Arg)
c.854A>G (p.His285Arg)
c.224A>G (p.His75Arg)
c.776A>G (p.His259Arg)
4g.47406721A>TCA356811291GABRB1c.875A>T (p.His292Leu)
c.854A>T (p.His285Leu)
c.224A>T (p.His75Leu)
c.776A>T (p.His259Leu)
4g.47406722C>ACA356811292GABRB1c.876C>A (p.His292Gln)
c.855C>A (p.His285Gln)
c.225C>A (p.His75Gln)
c.777C>A (p.His259Gln)
4g.47406722C>GCA356811293GABRB1c.876C>G (p.His292Gln)
c.855C>G (p.His285Gln)
c.225C>G (p.His75Gln)
c.777C>G (p.His259Gln)
4g.47406722C>TCA439245752GABRB1c.876C>T (p.His292=)
c.855C>T (p.His285=)
c.225C>T (p.His75=)
c.777C>T (p.His259=)
 ClinVar dbSNP gnomAD v4
4g.47406723C>ACA356811296GABRB1c.877C>A (p.Leu293Ile)
c.856C>A (p.Leu286Ile)
c.226C>A (p.Leu76Ile)
c.778C>A (p.Leu260Ile)
 COSMIC
4g.47406723C>GCA356811295GABRB1c.877C>G (p.Leu293Val)
c.856C>G (p.Leu286Val)
c.226C>G (p.Leu76Val)
c.778C>G (p.Leu260Val)
4g.47406723C>TCA356811294GABRB1c.877C>T (p.Leu293Phe)
c.856C>T (p.Leu286Phe)
c.226C>T (p.Leu76Phe)
c.778C>T (p.Leu260Phe)
4g.47406724T>ACA356811297GABRB1c.878T>A (p.Leu293His)
c.857T>A (p.Leu286His)
c.227T>A (p.Leu76His)
c.779T>A (p.Leu260His)
4g.47406724T>CCA356811298GABRB1c.878T>C (p.Leu293Pro)
c.857T>C (p.Leu286Pro)
c.227T>C (p.Leu76Pro)
c.779T>C (p.Leu260Pro)
4g.47406724T>GCA356811299GABRB1c.878T>G (p.Leu293Arg)
c.857T>G (p.Leu286Arg)
c.227T>G (p.Leu76Arg)
c.779T>G (p.Leu260Arg)
4g.47406725C>ACA439245754GABRB1c.879C>A (p.Leu293=)
c.858C>A (p.Leu286=)
c.228C>A (p.Leu76=)
c.780C>A (p.Leu260=)
4g.47406725C=CA1455320439GABRB1c.879C= (p.Leu293=)
c.858C= (p.Leu286=)
c.228C= (p.Leu76=)
c.780C= (p.Leu260=)
4g.47406725C>GCA439245755GABRB1c.879C>G (p.Leu293=)
c.858C>G (p.Leu286=)
c.228C>G (p.Leu76=)
c.780C>G (p.Leu260=)
4g.47406725C>TCA2907709GABRB1c.879C>T (p.Leu293=)
c.858C>T (p.Leu286=)
c.228C>T (p.Leu76=)
c.780C>T (p.Leu260=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.47406726A=CA1455320452GABRB1c.880A= (p.Arg294=)
c.859A= (p.Arg287=)
c.229A= (p.Arg77=)
c.781A= (p.Arg261=)
4g.47406726A>CCA439245756GABRB1c.880A>C (p.Arg294=)
c.859A>C (p.Arg287=)
c.229A>C (p.Arg77=)
c.781A>C (p.Arg261=)
 dbSNP
4g.47406726A>GCA97302422GABRB1c.880A>G (p.Arg294Gly)
c.859A>G (p.Arg287Gly)
c.229A>G (p.Arg77Gly)
c.781A>G (p.Arg261Gly)
 dbSNP gnomAD v2 gnomAD v4
4g.47406726A>TCA356811300GABRB1c.880A>T (p.Arg294Trp)
c.859A>T (p.Arg287Trp)
c.229A>T (p.Arg77Trp)
c.781A>T (p.Arg261Trp)
4g.47406726_47406727delinsAGCA1455320450GABRB1c.880_881delinsAG (p.Arg294=)
c.859_860delinsAG (p.Arg287=)
c.229_230delinsAG (p.Arg77=)
c.781_782delinsAG (p.Arg261=)
4g.47406727G>ACA356811301GABRB1c.881G>A (p.Arg294Lys)
c.860G>A (p.Arg287Lys)
c.230G>A (p.Arg77Lys)
c.782G>A (p.Arg261Lys)
4g.47406727G>CCA356811302GABRB1c.881G>C (p.Arg294Thr)
c.860G>C (p.Arg287Thr)
c.230G>C (p.Arg77Thr)
c.782G>C (p.Arg261Thr)
4g.47406727G>TCA356811303GABRB1c.881G>T (p.Arg294Met)
c.860G>T (p.Arg287Met)
c.230G>T (p.Arg77Met)
c.782G>T (p.Arg261Met)
4g.47406729delCA97302423GABRB1c.883del (p.Glu295ArgfsTer16)
c.862del (p.Glu288ArgfsTer16)
c.232del (p.Glu78ArgfsTer16)
c.784del (p.Glu262ArgfsTer16)
 dbSNP
4g.47406728G>ACA2907710GABRB1c.882G>A (p.Arg294=)
c.861G>A (p.Arg287=)
c.231G>A (p.Arg77=)
c.783G>A (p.Arg261=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.47406728G>CCA356811307GABRB1c.882G>C (p.Arg294Ser)
c.861G>C (p.Arg287Ser)
c.231G>C (p.Arg77Ser)
c.783G>C (p.Arg261Ser)
4g.47406728G=CA1455320458GABRB1c.882G= (p.Arg294=)
c.861G= (p.Arg287=)
c.231G= (p.Arg77=)
c.783G= (p.Arg261=)
4g.47406728G>TCA356811309GABRB1c.882G>T (p.Arg294Ser)
c.861G>T (p.Arg287Ser)
c.231G>T (p.Arg77Ser)
c.783G>T (p.Arg261Ser)
4g.47406729G>ACA356811313GABRB1c.883G>A (p.Glu295Lys)
c.862G>A (p.Glu288Lys)
c.232G>A (p.Glu78Lys)
c.784G>A (p.Glu262Lys)
4g.47406729G>CCA356811315GABRB1c.883G>C (p.Glu295Gln)
c.862G>C (p.Glu288Gln)
c.232G>C (p.Glu78Gln)
c.784G>C (p.Glu262Gln)
4g.47406729G>TCA356811311GABRB1c.883G>T (p.Glu295Ter)
c.862G>T (p.Glu288Ter)
c.232G>T (p.Glu78Ter)
c.784G>T (p.Glu262Ter)
4g.47406730A>CCA356811317GABRB1c.884A>C (p.Glu295Ala)
c.863A>C (p.Glu288Ala)
c.233A>C (p.Glu78Ala)
c.785A>C (p.Glu262Ala)
4g.47406730A>GCA356811319GABRB1c.884A>G (p.Glu295Gly)
c.863A>G (p.Glu288Gly)
c.233A>G (p.Glu78Gly)
c.785A>G (p.Glu262Gly)
4g.47406730A>TCA356811318GABRB1c.884A>T (p.Glu295Val)
c.863A>T (p.Glu288Val)
c.233A>T (p.Glu78Val)
c.785A>T (p.Glu262Val)
4g.47406731G>ACA439245758GABRB1c.885G>A (p.Glu295=)
c.864G>A (p.Glu288=)
c.234G>A (p.Glu78=)
c.786G>A (p.Glu262=)
 gnomAD v4
4g.47406731G>CCA356811322GABRB1c.885G>C (p.Glu295Asp)
c.864G>C (p.Glu288Asp)
c.234G>C (p.Glu78Asp)
c.786G>C (p.Glu262Asp)
 gnomAD v4
4g.47406731G>TCA356811324GABRB1c.885G>T (p.Glu295Asp)
c.864G>T (p.Glu288Asp)
c.234G>T (p.Glu78Asp)
c.786G>T (p.Glu262Asp)
4g.47406732A>CCA356811327GABRB1c.886A>C (p.Thr296Pro)
c.865A>C (p.Thr289Pro)
c.235A>C (p.Thr79Pro)
c.787A>C (p.Thr263Pro)
4g.47406732A>GCA356811329GABRB1c.886A>G (p.Thr296Ala)
c.865A>G (p.Thr289Ala)
c.235A>G (p.Thr79Ala)
c.787A>G (p.Thr263Ala)
4g.47406732A>TCA356811330GABRB1c.886A>T (p.Thr296Ser)
c.865A>T (p.Thr289Ser)
c.235A>T (p.Thr79Ser)
c.787A>T (p.Thr263Ser)
4g.47406733C>ACA356811333GABRB1c.887C>A (p.Thr296Asn)
c.866C>A (p.Thr289Asn)
c.236C>A (p.Thr79Asn)
c.788C>A (p.Thr263Asn)
4g.47406733C>GCA356811334GABRB1c.887C>G (p.Thr296Ser)
c.866C>G (p.Thr289Ser)
c.236C>G (p.Thr79Ser)
c.788C>G (p.Thr263Ser)
4g.47406733C>TCA356811336GABRB1c.887C>T (p.Thr296Ile)
c.866C>T (p.Thr289Ile)
c.236C>T (p.Thr79Ile)
c.788C>T (p.Thr263Ile)
4g.47406734C>ACA439245760GABRB1c.888C>A (p.Thr296=)
c.867C>A (p.Thr289=)
c.237C>A (p.Thr79=)
c.789C>A (p.Thr263=)
 COSMIC
4g.47406734C>GCA439245761GABRB1c.888C>G (p.Thr296=)
c.867C>G (p.Thr289=)
c.237C>G (p.Thr79=)
c.789C>G (p.Thr263=)
4g.47406734C>TCA439245762GABRB1c.888C>T (p.Thr296=)
c.867C>T (p.Thr289=)
c.237C>T (p.Thr79=)
c.789C>T (p.Thr263=)
 COSMIC
4g.47406735C>ACA356811338GABRB1c.889C>A (p.Leu297Met)
c.868C>A (p.Leu290Met)
c.238C>A (p.Leu80Met)
c.790C>A (p.Leu264Met)
4g.47406735C>GCA356811340GABRB1c.889C>G (p.Leu297Val)
c.868C>G (p.Leu290Val)
c.238C>G (p.Leu80Val)
c.790C>G (p.Leu264Val)
4g.47406735C>TCA439245763GABRB1c.889C>T (p.Leu297=)
c.868C>T (p.Leu290=)
c.238C>T (p.Leu80=)
c.790C>T (p.Leu264=)
 gnomAD v4
4g.47406736T>ACA356811342GABRB1c.890T>A (p.Leu297Gln)
c.869T>A (p.Leu290Gln)
c.239T>A (p.Leu80Gln)
c.791T>A (p.Leu264Gln)
4g.47406736T>CCA356811344GABRB1c.890T>C (p.Leu297Pro)
c.869T>C (p.Leu290Pro)
c.239T>C (p.Leu80Pro)
c.791T>C (p.Leu264Pro)
4g.47406736T>GCA356811346GABRB1c.890T>G (p.Leu297Arg)
c.869T>G (p.Leu290Arg)
c.239T>G (p.Leu80Arg)
c.791T>G (p.Leu264Arg)
4g.47406737G>ACA439245764GABRB1c.891G>A (p.Leu297=)
c.870G>A (p.Leu290=)
c.240G>A (p.Leu80=)
c.792G>A (p.Leu264=)
4g.47406737G>CCA439245765GABRB1c.891G>C (p.Leu297=)
c.870G>C (p.Leu290=)
c.240G>C (p.Leu80=)
c.792G>C (p.Leu264=)
4g.47406737G>TCA439245766GABRB1c.891G>T (p.Leu297=)
c.870G>T (p.Leu290=)
c.240G>T (p.Leu80=)
c.792G>T (p.Leu264=)
4g.47406738C>ACA356811352GABRB1c.892C>A (p.Pro298Thr)
c.871C>A (p.Pro291Thr)
c.241C>A (p.Pro81Thr)
c.793C>A (p.Pro265Thr)
4g.47406738C>GCA356811348GABRB1c.892C>G (p.Pro298Ala)
c.871C>G (p.Pro291Ala)
c.241C>G (p.Pro81Ala)
c.793C>G (p.Pro265Ala)
4g.47406738C>TCA356811350GABRB1c.892C>T (p.Pro298Ser)
c.871C>T (p.Pro291Ser)
c.241C>T (p.Pro81Ser)
c.793C>T (p.Pro265Ser)
4g.47406739C>ACA356811354GABRB1c.893C>A (p.Pro298Gln)
c.872C>A (p.Pro291Gln)
c.242C>A (p.Pro81Gln)
c.794C>A (p.Pro265Gln)
4g.47406739C>GCA356811355GABRB1c.893C>G (p.Pro298Arg)
c.872C>G (p.Pro291Arg)
c.242C>G (p.Pro81Arg)
c.794C>G (p.Pro265Arg)
4g.47406739C>TCA356811357GABRB1c.893C>T (p.Pro298Leu)
c.872C>T (p.Pro291Leu)
c.242C>T (p.Pro81Leu)
c.794C>T (p.Pro265Leu)
4g.47406740A>CCA439245767GABRB1c.894A>C (p.Pro298=)
c.873A>C (p.Pro291=)
c.243A>C (p.Pro81=)
c.795A>C (p.Pro265=)
4g.47406740A>GCA439245768GABRB1c.894A>G (p.Pro298=)
c.873A>G (p.Pro291=)
c.243A>G (p.Pro81=)
c.795A>G (p.Pro265=)
4g.47406740A>TCA439245769GABRB1c.894A>T (p.Pro298=)
c.873A>T (p.Pro291=)
c.243A>T (p.Pro81=)
c.795A>T (p.Pro265=)
4g.47406741A>CCA356811360GABRB1c.895A>C (p.Lys299Gln)
c.874A>C (p.Lys292Gln)
c.244A>C (p.Lys82Gln)
c.796A>C (p.Lys266Gln)
4g.47406741A>GCA356811361GABRB1c.895A>G (p.Lys299Glu)
c.874A>G (p.Lys292Glu)
c.244A>G (p.Lys82Glu)
c.796A>G (p.Lys266Glu)
4g.47406741A>TCA356811362GABRB1c.895A>T (p.Lys299Ter)
c.874A>T (p.Lys292Ter)
c.244A>T (p.Lys82Ter)
c.796A>T (p.Lys266Ter)
4g.47406742A>CCA356811365GABRB1c.896A>C (p.Lys299Thr)
c.875A>C (p.Lys292Thr)
c.245A>C (p.Lys82Thr)
c.797A>C (p.Lys266Thr)
4g.47406742A>GCA356811367GABRB1c.896A>G (p.Lys299Arg)
c.875A>G (p.Lys292Arg)
c.245A>G (p.Lys82Arg)
c.797A>G (p.Lys266Arg)
4g.47406742A>TCA356811368GABRB1c.896A>T (p.Lys299Met)
c.875A>T (p.Lys292Met)
c.245A>T (p.Lys82Met)
c.797A>T (p.Lys266Met)
4g.47406743G>ACA2907711GABRB1c.897G>A (p.Lys299=)
c.876G>A (p.Lys292=)
c.246G>A (p.Lys82=)
c.798G>A (p.Lys266=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.47406743G>CCA356811372GABRB1c.897G>C (p.Lys299Asn)
c.876G>C (p.Lys292Asn)
c.246G>C (p.Lys82Asn)
c.798G>C (p.Lys266Asn)
4g.47406743G=CA1455320462GABRB1c.897G= (p.Lys299=)
c.876G= (p.Lys292=)
c.246G= (p.Lys82=)
c.798G= (p.Lys266=)
4g.47406743G>TCA356811373GABRB1c.897G>T (p.Lys299Asn)
c.876G>T (p.Lys292Asn)
c.246G>T (p.Lys82Asn)
c.798G>T (p.Lys266Asn)
4g.47406744A>CCA356811376GABRB1c.898A>C (p.Ile300Leu)
c.877A>C (p.Ile293Leu)
c.247A>C (p.Ile83Leu)
c.799A>C (p.Ile267Leu)
4g.47406744A>GCA356811380GABRB1c.898A>G (p.Ile300Val)
c.877A>G (p.Ile293Val)
c.247A>G (p.Ile83Val)
c.799A>G (p.Ile267Val)
4g.47406744A>TCA356811378GABRB1c.898A>T (p.Ile300Phe)
c.877A>T (p.Ile293Phe)
c.247A>T (p.Ile83Phe)
c.799A>T (p.Ile267Phe)
 ClinVar
4g.47406745T>ACA356811382GABRB1c.899T>A (p.Ile300Asn)
c.878T>A (p.Ile293Asn)
c.248T>A (p.Ile83Asn)
c.800T>A (p.Ile267Asn)
4g.47406745T>CCA356811384GABRB1c.899T>C (p.Ile300Thr)
c.878T>C (p.Ile293Thr)
c.248T>C (p.Ile83Thr)
c.800T>C (p.Ile267Thr)
4g.47406745T>GCA356811386GABRB1c.899T>G (p.Ile300Ser)
c.878T>G (p.Ile293Ser)
c.248T>G (p.Ile83Ser)
c.800T>G (p.Ile267Ser)
4g.47406746C>ACA439245772GABRB1c.900C>A (p.Ile300=)
c.879C>A (p.Ile293=)
c.249C>A (p.Ile83=)
c.801C>A (p.Ile267=)
4g.47406746C>GCA356811388GABRB1c.900C>G (p.Ile300Met)
c.879C>G (p.Ile293Met)
c.249C>G (p.Ile83Met)
c.801C>G (p.Ile267Met)
4g.47406746C>TCA439245773GABRB1c.900C>T (p.Ile300=)
c.879C>T (p.Ile293=)
c.249C>T (p.Ile83=)
c.801C>T (p.Ile267=)
 gnomAD v4 COSMIC
4g.47406746_47406747delinsTTCA645538229GABRB1c.900_901delinsTT (p.Pro301Ser)
c.879_880delinsTT (p.Pro294Ser)
c.249_250delinsTT (p.Pro84Ser)
c.801_802delinsTT (p.Pro268Ser)
 COSMIC
4g.47406747C>ACA356811390GABRB1c.901C>A (p.Pro301Thr)
c.880C>A (p.Pro294Thr)
c.250C>A (p.Pro84Thr)
c.802C>A (p.Pro268Thr)
4g.47406747C>GCA356811392GABRB1c.901C>G (p.Pro301Ala)
c.880C>G (p.Pro294Ala)
c.250C>G (p.Pro84Ala)
c.802C>G (p.Pro268Ala)
4g.47406747C>TCA356811394GABRB1c.901C>T (p.Pro301Ser)
c.880C>T (p.Pro294Ser)
c.250C>T (p.Pro84Ser)
c.802C>T (p.Pro268Ser)
4g.47406748C>ACA356811396GABRB1c.902C>A (p.Pro301His)
c.881C>A (p.Pro294His)
c.251C>A (p.Pro84His)
c.803C>A (p.Pro268His)
4g.47406748C>GCA356811398GABRB1c.902C>G (p.Pro301Arg)
c.881C>G (p.Pro294Arg)
c.251C>G (p.Pro84Arg)
c.803C>G (p.Pro268Arg)
 gnomAD v4
4g.47406748C>TCA356811399GABRB1c.902C>T (p.Pro301Leu)
c.881C>T (p.Pro294Leu)
c.251C>T (p.Pro84Leu)
c.803C>T (p.Pro268Leu)
 COSMIC
4g.47406749T>ACA439245774GABRB1c.903T>A (p.Pro301=)
c.882T>A (p.Pro294=)
c.252T>A (p.Pro84=)
c.804T>A (p.Pro268=)
4g.47406749T>CCA439245775GABRB1c.903T>C (p.Pro301=)
c.882T>C (p.Pro294=)
c.252T>C (p.Pro84=)
c.804T>C (p.Pro268=)
 dbSNP
4g.47406749T>GCA439245776GABRB1c.903T>G (p.Pro301=)
c.882T>G (p.Pro294=)
c.252T>G (p.Pro84=)
c.804T>G (p.Pro268=)
4g.47406749T=CA1455320464GABRB1c.903T= (p.Pro301=)
c.882T= (p.Pro294=)
c.252T= (p.Pro84=)
c.804T= (p.Pro268=)
4g.47406750T>ACA356811406GABRB1c.904T>A (p.Tyr302Asn)
c.883T>A (p.Tyr295Asn)
c.253T>A (p.Tyr85Asn)
c.805T>A (p.Tyr269Asn)
4g.47406750T>CCA356811404GABRB1c.904T>C (p.Tyr302His)
c.883T>C (p.Tyr295His)
c.253T>C (p.Tyr85His)
c.805T>C (p.Tyr269His)
4g.47406750T>GCA356811402GABRB1c.904T>G (p.Tyr302Asp)
c.883T>G (p.Tyr295Asp)
c.253T>G (p.Tyr85Asp)
c.805T>G (p.Tyr269Asp)
4g.47406751A>CCA356811409GABRB1c.905A>C (p.Tyr302Ser)
c.884A>C (p.Tyr295Ser)
c.254A>C (p.Tyr85Ser)
c.806A>C (p.Tyr269Ser)
4g.47406751A>GCA356811410GABRB1c.905A>G (p.Tyr302Cys)
c.884A>G (p.Tyr295Cys)
c.254A>G (p.Tyr85Cys)
c.806A>G (p.Tyr269Cys)
4g.47406751A>TCA356811411GABRB1c.905A>T (p.Tyr302Phe)
c.884A>T (p.Tyr295Phe)
c.254A>T (p.Tyr85Phe)
c.806A>T (p.Tyr269Phe)
4g.47406752T>ACA356811413GABRB1c.906T>A (p.Tyr302Ter)
c.885T>A (p.Tyr295Ter)
c.255T>A (p.Tyr85Ter)
c.807T>A (p.Tyr269Ter)
4g.47406752T>CCA2907712GABRB1c.906T>C (p.Tyr302=)
c.885T>C (p.Tyr295=)
c.255T>C (p.Tyr85=)
c.807T>C (p.Tyr269=)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.47406752T>GCA356811415GABRB1c.906T>G (p.Tyr302Ter)
c.885T>G (p.Tyr295Ter)
c.255T>G (p.Tyr85Ter)
c.807T>G (p.Tyr269Ter)
4g.47406752T=CA1455320468GABRB1c.906T= (p.Tyr302=)
c.885T= (p.Tyr295=)
c.255T= (p.Tyr85=)
c.807T= (p.Tyr269=)
4g.47406753G>ACA356811418GABRB1c.907G>A (p.Val303Ile)
c.886G>A (p.Val296Ile)
c.256G>A (p.Val86Ile)
c.808G>A (p.Val270Ile)
4g.47406753G>CCA356811419GABRB1c.907G>C (p.Val303Leu)
c.886G>C (p.Val296Leu)
c.256G>C (p.Val86Leu)
c.808G>C (p.Val270Leu)
4g.47406753G>TCA356811421GABRB1c.907G>T (p.Val303Phe)
c.886G>T (p.Val296Phe)
c.256G>T (p.Val86Phe)
c.808G>T (p.Val270Phe)
 COSMIC
4g.47406754T>ACA356811424GABRB1c.908T>A (p.Val303Asp)
c.887T>A (p.Val296Asp)
c.257T>A (p.Val86Asp)
c.809T>A (p.Val270Asp)
4g.47406754T>CCA356811425GABRB1c.908T>C (p.Val303Ala)
c.887T>C (p.Val296Ala)
c.257T>C (p.Val86Ala)
c.809T>C (p.Val270Ala)
4g.47406754T>GCA356811426GABRB1c.908T>G (p.Val303Gly)
c.887T>G (p.Val296Gly)
c.257T>G (p.Val86Gly)
c.809T>G (p.Val270Gly)
4g.47406755C>ACA439245778GABRB1c.909C>A (p.Val303=)
c.888C>A (p.Val296=)
c.258C>A (p.Val86=)
c.810C>A (p.Val270=)
4g.47406755C>GCA439245779GABRB1c.909C>G (p.Val303=)
c.888C>G (p.Val296=)
c.258C>G (p.Val86=)
c.810C>G (p.Val270=)
4g.47406755C>TCA439245781GABRB1c.909C>T (p.Val303=)
c.888C>T (p.Val296=)
c.258C>T (p.Val86=)
c.810C>T (p.Val270=)
4g.47406756A>CCA356811428GABRB1c.910A>C (p.Lys304Gln)
c.889A>C (p.Lys297Gln)
c.259A>C (p.Lys87Gln)
c.811A>C (p.Lys271Gln)
 COSMIC
4g.47406756A>GCA356811430GABRB1c.910A>G (p.Lys304Glu)
c.889A>G (p.Lys297Glu)
c.259A>G (p.Lys87Glu)
c.811A>G (p.Lys271Glu)
4g.47406756A>TCA356811427GABRB1c.910A>T (p.Lys304Ter)
c.889A>T (p.Lys297Ter)
c.259A>T (p.Lys87Ter)
c.811A>T (p.Lys271Ter)
4g.47406757A>CCA356811433GABRB1c.911A>C (p.Lys304Thr)
c.890A>C (p.Lys297Thr)
c.260A>C (p.Lys87Thr)
c.812A>C (p.Lys271Thr)
4g.47406757A>GCA356811434GABRB1c.911A>G (p.Lys304Arg)
c.890A>G (p.Lys297Arg)
c.260A>G (p.Lys87Arg)
c.812A>G (p.Lys271Arg)
4g.47406757A>TCA356811436GABRB1c.911A>T (p.Lys304Ile)
c.890A>T (p.Lys297Ile)
c.260A>T (p.Lys87Ile)
c.812A>T (p.Lys271Ile)
4g.47406758A=CA1455320471GABRB1c.912A= (p.Lys304=)
c.891A= (p.Lys297=)
c.261A= (p.Lys87=)
c.813A= (p.Lys271=)
4g.47406758A>CCA356811438GABRB1c.912A>C (p.Lys304Asn)
c.891A>C (p.Lys297Asn)
c.261A>C (p.Lys87Asn)
c.813A>C (p.Lys271Asn)
4g.47406758A>GCA97302424GABRB1c.912A>G (p.Lys304=)
c.891A>G (p.Lys297=)
c.261A>G (p.Lys87=)
c.813A>G (p.Lys271=)
 dbSNP gnomAD v3 gnomAD v4
4g.47406758A>TCA356811440GABRB1c.912A>T (p.Lys304Asn)
c.891A>T (p.Lys297Asn)
c.261A>T (p.Lys87Asn)
c.813A>T (p.Lys271Asn)
4g.47406759G>ACA356811446GABRB1c.913G>A (p.Ala305Thr)
c.892G>A (p.Ala298Thr)
c.262G>A (p.Ala88Thr)
c.814G>A (p.Ala272Thr)
 ClinVar
4g.47406759G>CCA356811444GABRB1c.913G>C (p.Ala305Pro)
c.892G>C (p.Ala298Pro)
c.262G>C (p.Ala88Pro)
c.814G>C (p.Ala272Pro)
4g.47406759G>TCA356811442GABRB1c.913G>T (p.Ala305Ser)
c.892G>T (p.Ala298Ser)
c.262G>T (p.Ala88Ser)
c.814G>T (p.Ala272Ser)
4g.47406760C>ACA356811448GABRB1c.914C>A (p.Ala305Glu)
c.893C>A (p.Ala298Glu)
c.263C>A (p.Ala88Glu)
c.815C>A (p.Ala272Glu)
 gnomAD v4
4g.47406760C=CA1455320474GABRB1c.914C= (p.Ala305=)
c.893C= (p.Ala298=)
c.263C= (p.Ala88=)
c.815C= (p.Ala272=)
4g.47406760C>GCA356811450GABRB1c.914C>G (p.Ala305Gly)
c.893C>G (p.Ala298Gly)
c.263C>G (p.Ala88Gly)
c.815C>G (p.Ala272Gly)
4g.47406760C>TCA356811452GABRB1c.914C>T (p.Ala305Val)
c.893C>T (p.Ala298Val)
c.263C>T (p.Ala88Val)
c.815C>T (p.Ala272Val)
 ClinVar dbSNP
4g.47406761G>ACA2907713GABRB1c.915G>A (p.Ala305=)
c.894G>A (p.Ala298=)
c.264G>A (p.Ala88=)
c.816G>A (p.Ala272=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.47406761G>CCA439245783GABRB1c.915G>C (p.Ala305=)
c.894G>C (p.Ala298=)
c.264G>C (p.Ala88=)
c.816G>C (p.Ala272=)
4g.47406761G=CA1455320478GABRB1c.915G= (p.Ala305=)
c.894G= (p.Ala298=)
c.264G= (p.Ala88=)
c.816G= (p.Ala272=)
4g.47406761G>TCA439245785GABRB1c.915G>T (p.Ala305=)
c.894G>T (p.Ala298=)
c.264G>T (p.Ala88=)
c.816G>T (p.Ala272=)
4g.47406762A>CCA356811455GABRB1c.916A>C (p.Ile306Leu)
c.895A>C (p.Ile299Leu)
c.265A>C (p.Ile89Leu)
c.817A>C (p.Ile273Leu)
4g.47406762A>GCA356811457GABRB1c.916A>G (p.Ile306Val)
c.895A>G (p.Ile299Val)
c.265A>G (p.Ile89Val)
c.817A>G (p.Ile273Val)
4g.47406762A>TCA356811458GABRB1c.916A>T (p.Ile306Phe)
c.895A>T (p.Ile299Phe)
c.265A>T (p.Ile89Phe)
c.817A>T (p.Ile273Phe)
4g.47406763T>ACA356811460GABRB1c.917T>A (p.Ile306Asn)
c.896T>A (p.Ile299Asn)
c.266T>A (p.Ile89Asn)
c.818T>A (p.Ile273Asn)
 ClinVar
4g.47406763T>CCA356811462GABRB1c.917T>C (p.Ile306Thr)
c.896T>C (p.Ile299Thr)
c.266T>C (p.Ile89Thr)
c.818T>C (p.Ile273Thr)
4g.47406763T>GCA356811461GABRB1c.917T>G (p.Ile306Ser)
c.896T>G (p.Ile299Ser)
c.266T>G (p.Ile89Ser)
c.818T>G (p.Ile273Ser)
4g.47406764T>ACA439245786GABRB1c.918T>A (p.Ile306=)
c.897T>A (p.Ile299=)
c.267T>A (p.Ile89=)
c.819T>A (p.Ile273=)
4g.47406764T>CCA439245787GABRB1c.918T>C (p.Ile306=)
c.897T>C (p.Ile299=)
c.267T>C (p.Ile89=)
c.819T>C (p.Ile273=)
 gnomAD v4
4g.47406764T>GCA356811464GABRB1c.918T>G (p.Ile306Met)
c.897T>G (p.Ile299Met)
c.267T>G (p.Ile89Met)
c.819T>G (p.Ile273Met)
4g.47406765G>ACA356811466GABRB1c.919G>A (p.Asp307Asn)
c.898G>A (p.Asp300Asn)
c.268G>A (p.Asp90Asn)
c.820G>A (p.Asp274Asn)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
4g.47406765G>CCA356811467GABRB1c.919G>C (p.Asp307His)
c.898G>C (p.Asp300His)
c.268G>C (p.Asp90His)
c.820G>C (p.Asp274His)
 dbSNP
4g.47406765G=CA1455320481GABRB1c.919G= (p.Asp307=)
c.898G= (p.Asp300=)
c.268G= (p.Asp90=)
c.820G= (p.Asp274=)
4g.47406765G>TCA356811469GABRB1c.919G>T (p.Asp307Tyr)
c.898G>T (p.Asp300Tyr)
c.268G>T (p.Asp90Tyr)
c.820G>T (p.Asp274Tyr)
4g.47406766A>CCA356811471GABRB1c.920A>C (p.Asp307Ala)
c.899A>C (p.Asp300Ala)
c.269A>C (p.Asp90Ala)
c.821A>C (p.Asp274Ala)
4g.47406766A>GCA356811473GABRB1c.920A>G (p.Asp307Gly)
c.899A>G (p.Asp300Gly)
c.269A>G (p.Asp90Gly)
c.821A>G (p.Asp274Gly)
4g.47406766A>TCA356811474GABRB1c.920A>T (p.Asp307Val)
c.899A>T (p.Asp300Val)
c.269A>T (p.Asp90Val)
c.821A>T (p.Asp274Val)
 gnomAD v4
4g.47406767T>ACA356811477GABRB1c.921T>A (p.Asp307Glu)
c.900T>A (p.Asp300Glu)
c.270T>A (p.Asp90Glu)
c.822T>A (p.Asp274Glu)
4g.47406767T>CCA439245790GABRB1c.921T>C (p.Asp307=)
c.900T>C (p.Asp300=)
c.270T>C (p.Asp90=)
c.822T>C (p.Asp274=)
4g.47406767T>GCA356811478GABRB1c.921T>G (p.Asp307Glu)
c.900T>G (p.Asp300Glu)
c.270T>G (p.Asp90Glu)
c.822T>G (p.Asp274Glu)
4g.47406768A=CA1455320485GABRB1c.922A= (p.Ile308=)
c.901A= (p.Ile301=)
c.271A= (p.Ile91=)
c.823A= (p.Ile275=)
4g.47406768A>CCA356811480GABRB1c.922A>C (p.Ile308Leu)
c.901A>C (p.Ile301Leu)
c.271A>C (p.Ile91Leu)
c.823A>C (p.Ile275Leu)
4g.47406768A>GCA356811482GABRB1c.922A>G (p.Ile308Val)
c.901A>G (p.Ile301Val)
c.271A>G (p.Ile91Val)
c.823A>G (p.Ile275Val)
 dbSNP
4g.47406768A>TCA356811484GABRB1c.922A>T (p.Ile308Phe)
c.901A>T (p.Ile301Phe)
c.271A>T (p.Ile91Phe)
c.823A>T (p.Ile275Phe)
4g.47406769T>ACA356811486GABRB1c.923T>A (p.Ile308Asn)
c.902T>A (p.Ile301Asn)
c.272T>A (p.Ile91Asn)
c.824T>A (p.Ile275Asn)
4g.47406769T>CCA356811490GABRB1c.923T>C (p.Ile308Thr)
c.902T>C (p.Ile301Thr)
c.272T>C (p.Ile91Thr)
c.824T>C (p.Ile275Thr)
4g.47406769T>GCA356811488GABRB1c.923T>G (p.Ile308Ser)
c.902T>G (p.Ile301Ser)
c.272T>G (p.Ile91Ser)
c.824T>G (p.Ile275Ser)
 COSMIC
4g.47406770T>ACA439245791GABRB1c.924T>A (p.Ile308=)
c.903T>A (p.Ile301=)
c.273T>A (p.Ile91=)
c.825T>A (p.Ile275=)
4g.47406770T>CCA439245792GABRB1c.924T>C (p.Ile308=)
c.903T>C (p.Ile301=)
c.273T>C (p.Ile91=)
c.825T>C (p.Ile275=)
4g.47406770T>GCA356811492GABRB1c.924T>G (p.Ile308Met)
c.903T>G (p.Ile301Met)
c.273T>G (p.Ile91Met)
c.825T>G (p.Ile275Met)
4g.47406771T>ACA356811494GABRB1c.925T>A (p.Tyr309Asn)
c.904T>A (p.Tyr302Asn)
c.274T>A (p.Tyr92Asn)
c.826T>A (p.Tyr276Asn)
4g.47406771T>CCA356811496GABRB1c.925T>C (p.Tyr309His)
c.904T>C (p.Tyr302His)
c.274T>C (p.Tyr92His)
c.826T>C (p.Tyr276His)
4g.47406771T>GCA356811498GABRB1c.925T>G (p.Tyr309Asp)
c.904T>G (p.Tyr302Asp)
c.274T>G (p.Tyr92Asp)
c.826T>G (p.Tyr276Asp)
4g.47406772A>CCA356811500GABRB1c.926A>C (p.Tyr309Ser)
c.905A>C (p.Tyr302Ser)
c.275A>C (p.Tyr92Ser)
c.827A>C (p.Tyr276Ser)
4g.47406772A>GCA356811502GABRB1c.926A>G (p.Tyr309Cys)
c.905A>G (p.Tyr302Cys)
c.275A>G (p.Tyr92Cys)
c.827A>G (p.Tyr276Cys)
4g.47406772A>TCA356811504GABRB1c.926A>T (p.Tyr309Phe)
c.905A>T (p.Tyr302Phe)
c.275A>T (p.Tyr92Phe)
c.827A>T (p.Tyr276Phe)
4g.47406773T>ACA356811506GABRB1c.927T>A (p.Tyr309Ter)
c.906T>A (p.Tyr302Ter)
c.276T>A (p.Tyr92Ter)
c.828T>A (p.Tyr276Ter)
4g.47406773T>CCA439245794GABRB1c.927T>C (p.Tyr309=)
c.906T>C (p.Tyr302=)
c.276T>C (p.Tyr92=)
c.828T>C (p.Tyr276=)
4g.47406773T>GCA356811508GABRB1c.927T>G (p.Tyr309Ter)
c.906T>G (p.Tyr302Ter)
c.276T>G (p.Tyr92Ter)
c.828T>G (p.Tyr276Ter)
4g.47406774C>ACA2907714GABRB1c.928C>A (p.Leu310Met)
c.907C>A (p.Leu303Met)
c.277C>A (p.Leu93Met)
c.829C>A (p.Leu277Met)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.47406774C=CA1455320489GABRB1c.928C= (p.Leu310=)
c.907C= (p.Leu303=)
c.277C= (p.Leu93=)
c.829C= (p.Leu277=)
4g.47406774C>GCA356811510GABRB1c.928C>G (p.Leu310Val)
c.907C>G (p.Leu303Val)
c.277C>G (p.Leu93Val)
c.829C>G (p.Leu277Val)
4g.47406774C>TCA439245795GABRB1c.928C>T (p.Leu310=)
c.907C>T (p.Leu303=)
c.277C>T (p.Leu93=)
c.829C>T (p.Leu277=)
4g.47406775T>ACA356811512GABRB1c.929T>A (p.Leu310Gln)
c.908T>A (p.Leu303Gln)
c.278T>A (p.Leu93Gln)
c.830T>A (p.Leu277Gln)
4g.47406775T>CCA356811514GABRB1c.929T>C (p.Leu310Pro)
c.908T>C (p.Leu303Pro)
c.278T>C (p.Leu93Pro)
c.830T>C (p.Leu277Pro)
4g.47406775T>GCA356811516GABRB1c.929T>G (p.Leu310Arg)
c.908T>G (p.Leu303Arg)
c.278T>G (p.Leu93Arg)
c.830T>G (p.Leu277Arg)
4g.47406776G>ACA439245796GABRB1c.930G>A (p.Leu310=)
c.909G>A (p.Leu303=)
c.279G>A (p.Leu93=)
c.831G>A (p.Leu277=)
4g.47406776G>CCA439245797GABRB1c.930G>C (p.Leu310=)
c.909G>C (p.Leu303=)
c.279G>C (p.Leu93=)
c.831G>C (p.Leu277=)
 dbSNP
4g.47406776G=CA1455320492GABRB1c.930G= (p.Leu310=)
c.909G= (p.Leu303=)
c.279G= (p.Leu93=)
c.831G= (p.Leu277=)
4g.47406776G>TCA2907715GABRB1c.930G>T (p.Leu310=)
c.909G>T (p.Leu303=)
c.279G>T (p.Leu93=)
c.831G>T (p.Leu277=)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.47406777A>CCA356811520GABRB1c.931A>C (p.Met311Leu)
c.910A>C (p.Met304Leu)
c.280A>C (p.Met94Leu)
c.832A>C (p.Met278Leu)
4g.47406777A>GCA356811521GABRB1c.931A>G (p.Met311Val)
c.910A>G (p.Met304Val)
c.280A>G (p.Met94Val)
c.832A>G (p.Met278Val)
4g.47406777A>TCA356811522GABRB1c.931A>T (p.Met311Leu)
c.910A>T (p.Met304Leu)
c.280A>T (p.Met94Leu)
c.832A>T (p.Met278Leu)
4g.47406778T>ACA356811525GABRB1c.932T>A (p.Met311Lys)
c.911T>A (p.Met304Lys)
c.281T>A (p.Met94Lys)
c.833T>A (p.Met278Lys)
4g.47406778T>CCA356811526GABRB1c.932T>C (p.Met311Thr)
c.911T>C (p.Met304Thr)
c.281T>C (p.Met94Thr)
c.833T>C (p.Met278Thr)
4g.47406778T>GCA356811528GABRB1c.932T>G (p.Met311Arg)
c.911T>G (p.Met304Arg)
c.281T>G (p.Met94Arg)
c.833T>G (p.Met278Arg)
4g.47406779G>ACA356811530GABRB1c.933G>A (p.Met311Ile)
c.912G>A (p.Met304Ile)
c.282G>A (p.Met94Ile)
c.834G>A (p.Met278Ile)
4g.47406779G>CCA356811532GABRB1c.933G>C (p.Met311Ile)
c.912G>C (p.Met304Ile)
c.282G>C (p.Met94Ile)
c.834G>C (p.Met278Ile)
4g.47406779G=CA1455320495GABRB1c.933G= (p.Met311=)
c.912G= (p.Met304=)
c.282G= (p.Met94=)
c.834G= (p.Met278=)
4g.47406779G>TCA2907716GABRB1c.933G>T (p.Met311Ile)
c.912G>T (p.Met304Ile)
c.282G>T (p.Met94Ile)
c.834G>T (p.Met278Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.47406780G>ACA356811535GABRB1c.934G>A (p.Gly312Ser)
c.913G>A (p.Gly305Ser)
c.283G>A (p.Gly95Ser)
c.835G>A (p.Gly279Ser)
4g.47406780G>CCA356811537GABRB1c.934G>C (p.Gly312Arg)
c.913G>C (p.Gly305Arg)
c.283G>C (p.Gly95Arg)
c.835G>C (p.Gly279Arg)
4g.47406780G>TCA356811539GABRB1c.934G>T (p.Gly312Cys)
c.913G>T (p.Gly305Cys)
c.283G>T (p.Gly95Cys)
c.835G>T (p.Gly279Cys)
4g.47406781G>ACA356811545GABRB1c.935G>A (p.Gly312Asp)
c.914G>A (p.Gly305Asp)
c.284G>A (p.Gly95Asp)
c.836G>A (p.Gly279Asp)
 gnomAD v4
4g.47406781G>CCA356811543GABRB1c.935G>C (p.Gly312Ala)
c.914G>C (p.Gly305Ala)
c.284G>C (p.Gly95Ala)
c.836G>C (p.Gly279Ala)
4g.47406781G>TCA356811541GABRB1c.935G>T (p.Gly312Val)
c.914G>T (p.Gly305Val)
c.284G>T (p.Gly95Val)
c.836G>T (p.Gly279Val)
4g.47406782T>ACA439245801GABRB1c.936T>A (p.Gly312=)
c.915T>A (p.Gly305=)
c.285T>A (p.Gly95=)
c.837T>A (p.Gly279=)
4g.47406782T>CCA439245802GABRB1c.936T>C (p.Gly312=)
c.915T>C (p.Gly305=)
c.285T>C (p.Gly95=)
c.837T>C (p.Gly279=)
4g.47406782T>GCA439245803GABRB1c.936T>G (p.Gly312=)
c.915T>G (p.Gly305=)
c.285T>G (p.Gly95=)
c.837T>G (p.Gly279=)
 dbSNP
4g.47406782T=CA1455320497GABRB1c.936T= (p.Gly312=)
c.915T= (p.Gly305=)
c.285T= (p.Gly95=)
c.837T= (p.Gly279=)
4g.47406783T>ACA356811547GABRB1c.937T>A (p.Cys313Ser)
c.916T>A (p.Cys306Ser)
c.286T>A (p.Cys96Ser)
c.838T>A (p.Cys280Ser)
4g.47406783T>CCA356811551GABRB1c.937T>C (p.Cys313Arg)
c.916T>C (p.Cys306Arg)
c.286T>C (p.Cys96Arg)
c.838T>C (p.Cys280Arg)
 gnomAD v4
4g.47406783T>GCA356811549GABRB1c.937T>G (p.Cys313Gly)
c.916T>G (p.Cys306Gly)
c.286T>G (p.Cys96Gly)
c.838T>G (p.Cys280Gly)
4g.47406784G>ACA356811553GABRB1c.938G>A (p.Cys313Tyr)
c.917G>A (p.Cys306Tyr)
c.287G>A (p.Cys96Tyr)
c.839G>A (p.Cys280Tyr)
4g.47406784G>CCA356811557GABRB1c.938G>C (p.Cys313Ser)
c.917G>C (p.Cys306Ser)
c.287G>C (p.Cys96Ser)
c.839G>C (p.Cys280Ser)
4g.47406784G>TCA356811555GABRB1c.938G>T (p.Cys313Phe)
c.917G>T (p.Cys306Phe)
c.287G>T (p.Cys96Phe)
c.839G>T (p.Cys280Phe)
4g.47406785C>ACA356811559GABRB1c.939C>A (p.Cys313Ter)
c.918C>A (p.Cys306Ter)
c.288C>A (p.Cys96Ter)
c.840C>A (p.Cys280Ter)
4g.47406785C>GCA356811561GABRB1c.939C>G (p.Cys313Trp)
c.918C>G (p.Cys306Trp)
c.288C>G (p.Cys96Trp)
c.840C>G (p.Cys280Trp)
4g.47406785C>TCA439245805GABRB1c.939C>T (p.Cys313=)
c.918C>T (p.Cys306=)
c.288C>T (p.Cys96=)
c.840C>T (p.Cys280=)
4g.47406786T>ACA356811563GABRB1c.940T>A (p.Phe314Ile)
c.919T>A (p.Phe307Ile)
c.289T>A (p.Phe97Ile)
c.841T>A (p.Phe281Ile)
4g.47406786T>CCA356811565GABRB1c.940T>C (p.Phe314Leu)
c.919T>C (p.Phe307Leu)
c.289T>C (p.Phe97Leu)
c.841T>C (p.Phe281Leu)
4g.47406786T>GCA356811566GABRB1c.940T>G (p.Phe314Val)
c.919T>G (p.Phe307Val)
c.289T>G (p.Phe97Val)
c.841T>G (p.Phe281Val)
4g.47406787T>ACA356811568GABRB1c.941T>A (p.Phe314Tyr)
c.920T>A (p.Phe307Tyr)
c.290T>A (p.Phe97Tyr)
c.842T>A (p.Phe281Tyr)
4g.47406787T>CCA356811570GABRB1c.941T>C (p.Phe314Ser)
c.920T>C (p.Phe307Ser)
c.290T>C (p.Phe97Ser)
c.842T>C (p.Phe281Ser)
4g.47406787T>GCA356811572GABRB1c.941T>G (p.Phe314Cys)
c.920T>G (p.Phe307Cys)
c.290T>G (p.Phe97Cys)
c.842T>G (p.Phe281Cys)
 COSMIC
4g.47406788T>ACA356811573GABRB1c.942T>A (p.Phe314Leu)
c.921T>A (p.Phe307Leu)
c.291T>A (p.Phe97Leu)
c.843T>A (p.Phe281Leu)
4g.47406788T>CCA439245807GABRB1c.942T>C (p.Phe314=)
c.921T>C (p.Phe307=)
c.291T>C (p.Phe97=)
c.843T>C (p.Phe281=)
4g.47406788T>GCA356811575GABRB1c.942T>G (p.Phe314Leu)
c.921T>G (p.Phe307Leu)
c.291T>G (p.Phe97Leu)
c.843T>G (p.Phe281Leu)
4g.47406789G>ACA356811580GABRB1c.943G>A (p.Val315Met)
c.922G>A (p.Val308Met)
c.292G>A (p.Val98Met)
c.844G>A (p.Val282Met)
 COSMIC
4g.47406789G>CCA356811578GABRB1c.943G>C (p.Val315Leu)
c.922G>C (p.Val308Leu)
c.292G>C (p.Val98Leu)
c.844G>C (p.Val282Leu)
4g.47406789G>TCA356811577GABRB1c.943G>T (p.Val315Leu)
c.922G>T (p.Val308Leu)
c.292G>T (p.Val98Leu)
c.844G>T (p.Val282Leu)
4g.47406790T>ACA356811582GABRB1c.944T>A (p.Val315Glu)
c.923T>A (p.Val308Glu)
c.293T>A (p.Val98Glu)
c.845T>A (p.Val282Glu)
4g.47406790T>CCA356811584GABRB1c.944T>C (p.Val315Ala)
c.923T>C (p.Val308Ala)
c.293T>C (p.Val98Ala)
c.845T>C (p.Val282Ala)
4g.47406790T>GCA356811586GABRB1c.944T>G (p.Val315Gly)
c.923T>G (p.Val308Gly)
c.293T>G (p.Val98Gly)
c.845T>G (p.Val282Gly)
4g.47406791G>ACA439245808GABRB1c.945G>A (p.Val315=)
c.924G>A (p.Val308=)
c.294G>A (p.Val98=)
c.846G>A (p.Val282=)
4g.47406791G>CCA439245809GABRB1c.945G>C (p.Val315=)
c.924G>C (p.Val308=)
c.294G>C (p.Val98=)
c.846G>C (p.Val282=)
4g.47406791G>TCA439245810GABRB1c.945G>T (p.Val315=)
c.924G>T (p.Val308=)
c.294G>T (p.Val98=)
c.846G>T (p.Val282=)
4g.47406792T>ACA356811589GABRB1c.946T>A (p.Phe316Ile)
c.925T>A (p.Phe309Ile)
c.295T>A (p.Phe99Ile)
c.847T>A (p.Phe283Ile)
4g.47406792T>CCA356811590GABRB1c.946T>C (p.Phe316Leu)
c.925T>C (p.Phe309Leu)
c.295T>C (p.Phe99Leu)
c.847T>C (p.Phe283Leu)
4g.47406792T>GCA356811591GABRB1c.946T>G (p.Phe316Val)
c.925T>G (p.Phe309Val)
c.295T>G (p.Phe99Val)
c.847T>G (p.Phe283Val)
4g.47406793T>ACA356811593GABRB1c.947T>A (p.Phe316Tyr)
c.926T>A (p.Phe309Tyr)
c.296T>A (p.Phe99Tyr)
c.848T>A (p.Phe283Tyr)
4g.47406793T>CCA356811595GABRB1c.947T>C (p.Phe316Ser)
c.926T>C (p.Phe309Ser)
c.296T>C (p.Phe99Ser)
c.848T>C (p.Phe283Ser)
4g.47406793T>GCA356811597GABRB1c.947T>G (p.Phe316Cys)
c.926T>G (p.Phe309Cys)
c.296T>G (p.Phe99Cys)
c.848T>G (p.Phe283Cys)
4g.47406794T>ACA356811599GABRB1c.948T>A (p.Phe316Leu)
c.927T>A (p.Phe309Leu)
c.297T>A (p.Phe99Leu)
c.849T>A (p.Phe283Leu)
4g.47406794T>CCA439245812GABRB1c.948T>C (p.Phe316=)
c.927T>C (p.Phe309=)
c.297T>C (p.Phe99=)
c.849T>C (p.Phe283=)
4g.47406794T>GCA356811601GABRB1c.948T>G (p.Phe316Leu)
c.927T>G (p.Phe309Leu)
c.297T>G (p.Phe99Leu)
c.849T>G (p.Phe283Leu)
4g.47406795G>ACA356811604GABRB1c.949G>A (p.Val317Met)
c.928G>A (p.Val310Met)
c.298G>A (p.Val100Met)
c.850G>A (p.Val284Met)
4g.47406795G>CCA356811605GABRB1c.949G>C (p.Val317Leu)
c.928G>C (p.Val310Leu)
c.298G>C (p.Val100Leu)
c.850G>C (p.Val284Leu)
4g.47406795G>TCA356811603GABRB1c.949G>T (p.Val317Leu)
c.928G>T (p.Val310Leu)
c.298G>T (p.Val100Leu)
c.850G>T (p.Val284Leu)
4g.47406796T>ACA356811607GABRB1c.950T>A (p.Val317Glu)
c.929T>A (p.Val310Glu)
c.299T>A (p.Val100Glu)
c.851T>A (p.Val284Glu)
4g.47406796T>CCA356811608GABRB1c.950T>C (p.Val317Ala)
c.929T>C (p.Val310Ala)
c.299T>C (p.Val100Ala)
c.851T>C (p.Val284Ala)
 gnomAD v4
4g.47406796T>GCA356811610GABRB1c.950T>G (p.Val317Gly)
c.929T>G (p.Val310Gly)
c.299T>G (p.Val100Gly)
c.851T>G (p.Val284Gly)
4g.47406797G>ACA439245813GABRB1c.951G>A (p.Val317=)
c.930G>A (p.Val310=)
c.300G>A (p.Val100=)
c.852G>A (p.Val284=)
 dbSNP gnomAD v3 gnomAD v4
4g.47406797G>CCA439245814GABRB1c.951G>C (p.Val317=)
c.930G>C (p.Val310=)
c.300G>C (p.Val100=)
c.852G>C (p.Val284=)
4g.47406797G=CA1455320499GABRB1c.951G= (p.Val317=)
c.930G= (p.Val310=)
c.300G= (p.Val100=)
c.852G= (p.Val284=)
4g.47406797G>TCA439245815GABRB1c.951G>T (p.Val317=)
c.930G>T (p.Val310=)
c.300G>T (p.Val100=)
c.852G>T (p.Val284=)
4g.47406798T>ACA356811611GABRB1c.952T>A (p.Phe318Ile)
c.931T>A (p.Phe311Ile)
c.301T>A (p.Phe101Ile)
c.853T>A (p.Phe285Ile)
4g.47406798T>CCA356811612GABRB1c.952T>C (p.Phe318Leu)
c.931T>C (p.Phe311Leu)
c.301T>C (p.Phe101Leu)
c.853T>C (p.Phe285Leu)
4g.47406798T>GCA356811614GABRB1c.952T>G (p.Phe318Val)
c.931T>G (p.Phe311Val)
c.301T>G (p.Phe101Val)
c.853T>G (p.Phe285Val)
4g.47406799T>ACA356811616GABRB1c.953T>A (p.Phe318Tyr)
c.932T>A (p.Phe311Tyr)
c.302T>A (p.Phe101Tyr)
c.854T>A (p.Phe285Tyr)
4g.47406799T>CCA356811617GABRB1c.953T>C (p.Phe318Ser)
c.932T>C (p.Phe311Ser)
c.302T>C (p.Phe101Ser)
c.854T>C (p.Phe285Ser)
4g.47406799T>GCA356811619GABRB1c.953T>G (p.Phe318Cys)
c.932T>G (p.Phe311Cys)
c.302T>G (p.Phe101Cys)
c.854T>G (p.Phe285Cys)
4g.47406800C>ACA356811620GABRB1c.954C>A (p.Phe318Leu)
c.933C>A (p.Phe311Leu)
c.303C>A (p.Phe101Leu)
c.855C>A (p.Phe285Leu)
 COSMIC
4g.47406800C>GCA356811622GABRB1c.954C>G (p.Phe318Leu)
c.933C>G (p.Phe311Leu)
c.303C>G (p.Phe101Leu)
c.855C>G (p.Phe285Leu)
4g.47406800C>TCA439245817GABRB1c.954C>T (p.Phe318=)
c.933C>T (p.Phe311=)
c.303C>T (p.Phe101=)
c.855C>T (p.Phe285=)
 COSMIC
4g.47406801C>ACA356811624GABRB1c.955C>A (p.Leu319Met)
c.934C>A (p.Leu312Met)
c.304C>A (p.Leu102Met)
c.856C>A (p.Leu286Met)
4g.47406801C>GCA356811626GABRB1c.955C>G (p.Leu319Val)
c.934C>G (p.Leu312Val)
c.304C>G (p.Leu102Val)
c.856C>G (p.Leu286Val)
4g.47406801C>TCA439245818GABRB1c.955C>T (p.Leu319=)
c.934C>T (p.Leu312=)
c.304C>T (p.Leu102=)
c.856C>T (p.Leu286=)
4g.47406802T>ACA356811631GABRB1c.956T>A (p.Leu319Gln)
c.935T>A (p.Leu312Gln)
c.305T>A (p.Leu102Gln)
c.857T>A (p.Leu286Gln)
4g.47406802T>CCA356811629GABRB1c.956T>C (p.Leu319Pro)
c.935T>C (p.Leu312Pro)
c.305T>C (p.Leu102Pro)
c.857T>C (p.Leu286Pro)
4g.47406802T>GCA356811628GABRB1c.956T>G (p.Leu319Arg)
c.935T>G (p.Leu312Arg)
c.305T>G (p.Leu102Arg)
c.857T>G (p.Leu286Arg)
4g.47406803G>ACA439245819GABRB1c.957G>A (p.Leu319=)
c.936G>A (p.Leu312=)
c.306G>A (p.Leu102=)
c.858G>A (p.Leu286=)
4g.47406803G>CCA439245820GABRB1c.957G>C (p.Leu319=)
c.936G>C (p.Leu312=)
c.306G>C (p.Leu102=)
c.858G>C (p.Leu286=)
4g.47406803G>TCA439245821GABRB1c.957G>T (p.Leu319=)
c.936G>T (p.Leu312=)
c.306G>T (p.Leu102=)
c.858G>T (p.Leu286=)
4g.47406804G>ACA356811633GABRB1c.958G>A (p.Ala320Thr)
c.937G>A (p.Ala313Thr)
c.307G>A (p.Ala103Thr)
c.859G>A (p.Ala287Thr)
4g.47406804G>CCA356811635GABRB1c.958G>C (p.Ala320Pro)
c.937G>C (p.Ala313Pro)
c.307G>C (p.Ala103Pro)
c.859G>C (p.Ala287Pro)
4g.47406804G>TCA356811636GABRB1c.958G>T (p.Ala320Ser)
c.937G>T (p.Ala313Ser)
c.307G>T (p.Ala103Ser)
c.859G>T (p.Ala287Ser)
4g.47406805C>ACA356811639GABRB1c.959C>A (p.Ala320Asp)
c.938C>A (p.Ala313Asp)
c.308C>A (p.Ala103Asp)
c.860C>A (p.Ala287Asp)
4g.47406805C>GCA356811641GABRB1c.959C>G (p.Ala320Gly)
c.938C>G (p.Ala313Gly)
c.308C>G (p.Ala103Gly)
c.860C>G (p.Ala287Gly)
4g.47406805C>TCA356811642GABRB1c.959C>T (p.Ala320Val)
c.938C>T (p.Ala313Val)
c.308C>T (p.Ala103Val)
c.860C>T (p.Ala287Val)
4g.47406806T>ACA439245825GABRB1c.960T>A (p.Ala320=)
c.939T>A (p.Ala313=)
c.309T>A (p.Ala103=)
c.861T>A (p.Ala287=)
4g.47406806T>CCA439245827GABRB1c.960T>C (p.Ala320=)
c.939T>C (p.Ala313=)
c.309T>C (p.Ala103=)
c.861T>C (p.Ala287=)
4g.47406806T>GCA439245826GABRB1c.960T>G (p.Ala320=)
c.939T>G (p.Ala313=)
c.309T>G (p.Ala103=)
c.861T>G (p.Ala287=)

Number of alleles fetched