Chr Mutation (hg38) CAid Gene Transcript Linkouts
15g.26580364T>ACA391463978GABRB3c.637A>T (p.Ile213Phe)
n.680A>T
c.320A>T
c.382A>T (p.Ile128Phe)
c.538A>T (p.Ile180Phe)
c.424A>T (p.Ile142Phe)
c.805A>T (p.Ile269Phe)
c.*98A>T (n.*98A>T)
n.549A>T
c.*469A>T (n.*469A>T)
n.308A>T
c.460A>T (p.Ile154Phe)
15g.26580364T>CCA7437396GABRB3c.637A>G (p.Ile213Val)
n.680A>G
c.320A>G
c.382A>G (p.Ile128Val)
c.538A>G (p.Ile180Val)
c.424A>G (p.Ile142Val)
c.805A>G (p.Ile269Val)
c.*98A>G (n.*98A>G)
n.549A>G
c.*469A>G (n.*469A>G)
n.308A>G
c.460A>G (p.Ile154Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
15g.26580364T>GCA391463979GABRB3c.637A>C (p.Ile213Leu)
n.680A>C
c.320A>C
c.382A>C (p.Ile128Leu)
c.538A>C (p.Ile180Leu)
c.424A>C (p.Ile142Leu)
c.805A>C (p.Ile269Leu)
c.*98A>C (n.*98A>C)
n.549A>C
c.*469A>C (n.*469A>C)
n.308A>C
c.460A>C (p.Ile154Leu)
15g.26580364T=CA2165760515GABRB3c.637A= (p.Ile213=)
n.680A=
c.320A=
c.382A= (p.Ile128=)
c.538A= (p.Ile180=)
c.424A= (p.Ile142=)
c.805A= (p.Ile269=)
c.*98A= (n.*98A=)
n.549A=
c.*469A= (n.*469A=)
n.308A=
c.460A= (p.Ile154=)
15g.26580365G>ACA489071725GABRB3c.636C>T (p.Ser212=)
n.679C>T
c.319C>T
c.381C>T (p.Ser127=)
c.537C>T (p.Ser179=)
c.423C>T (p.Ser141=)
c.804C>T (p.Ser268=)
c.*97C>T (n.*97C>T)
n.548C>T
c.*468C>T (n.*468C>T)
n.307C>T
c.459C>T (p.Ser153=)
15g.26580365G>CCA489071726GABRB3c.636C>G (p.Ser212=)
n.679C>G
c.319C>G
c.381C>G (p.Ser127=)
c.537C>G (p.Ser179=)
c.423C>G (p.Ser141=)
c.804C>G (p.Ser268=)
c.*97C>G (n.*97C>G)
n.548C>G
c.*468C>G (n.*468C>G)
n.307C>G
c.459C>G (p.Ser153=)
15g.26580365G>TCA489071727GABRB3c.636C>A (p.Ser212=)
n.679C>A
c.319C>A
c.381C>A (p.Ser127=)
c.537C>A (p.Ser179=)
c.423C>A (p.Ser141=)
c.804C>A (p.Ser268=)
c.*97C>A (n.*97C>A)
n.548C>A
c.*468C>A (n.*468C>A)
n.307C>A
c.459C>A (p.Ser153=)
 gnomAD v4
15g.26580366G>ACA391463980GABRB3c.635C>T (p.Ser212Phe)
n.678C>T
c.318C>T
c.380C>T (p.Ser127Phe)
c.536C>T (p.Ser179Phe)
c.422C>T (p.Ser141Phe)
c.803C>T (p.Ser268Phe)
c.*96C>T (n.*96C>T)
n.547C>T
c.*467C>T (n.*467C>T)
n.306C>T
c.458C>T (p.Ser153Phe)
 COSMIC COSMIC COSMIC
15g.26580366G>CCA391463982GABRB3c.635C>G (p.Ser212Cys)
n.678C>G
c.318C>G
c.380C>G (p.Ser127Cys)
c.536C>G (p.Ser179Cys)
c.422C>G (p.Ser141Cys)
c.803C>G (p.Ser268Cys)
c.*96C>G (n.*96C>G)
n.547C>G
c.*467C>G (n.*467C>G)
n.306C>G
c.458C>G (p.Ser153Cys)
15g.26580366G>TCA391463981GABRB3c.635C>A (p.Ser212Tyr)
n.678C>A
c.318C>A
c.380C>A (p.Ser127Tyr)
c.536C>A (p.Ser179Tyr)
c.422C>A (p.Ser141Tyr)
c.803C>A (p.Ser268Tyr)
c.*96C>A (n.*96C>A)
n.547C>A
c.*467C>A (n.*467C>A)
n.306C>A
c.458C>A (p.Ser153Tyr)
15g.26580367A>CCA391463983GABRB3c.634T>G (p.Ser212Ala)
n.677T>G
c.317T>G
c.379T>G (p.Ser127Ala)
c.535T>G (p.Ser179Ala)
c.421T>G (p.Ser141Ala)
c.802T>G (p.Ser268Ala)
c.*95T>G (n.*95T>G)
n.546T>G
c.*466T>G (n.*466T>G)
n.305T>G
c.457T>G (p.Ser153Ala)
15g.26580367A>GCA391463984GABRB3c.634T>C (p.Ser212Pro)
n.677T>C
c.317T>C
c.379T>C (p.Ser127Pro)
c.535T>C (p.Ser179Pro)
c.421T>C (p.Ser141Pro)
c.802T>C (p.Ser268Pro)
c.*95T>C (n.*95T>C)
n.546T>C
c.*466T>C (n.*466T>C)
n.305T>C
c.457T>C (p.Ser153Pro)
15g.26580367A>TCA391463985GABRB3c.634T>A (p.Ser212Thr)
n.677T>A
c.317T>A
c.379T>A (p.Ser127Thr)
c.535T>A (p.Ser179Thr)
c.421T>A (p.Ser141Thr)
c.802T>A (p.Ser268Thr)
c.*95T>A (n.*95T>A)
n.546T>A
c.*466T>A (n.*466T>A)
n.305T>A
c.457T>A (p.Ser153Thr)
15g.26580368G>ACA489071728GABRB3c.633C>T (p.Phe211=)
n.676C>T
c.316C>T
c.378C>T (p.Phe126=)
c.534C>T (p.Phe178=)
c.420C>T (p.Phe140=)
c.801C>T (p.Phe267=)
c.*94C>T (n.*94C>T)
n.545C>T
c.*465C>T (n.*465C>T)
n.304C>T
c.456C>T (p.Phe152=)
 dbSNP gnomAD v2 gnomAD v4
15g.26580368G>CCA391463986GABRB3c.633C>G (p.Phe211Leu)
n.676C>G
c.316C>G
c.378C>G (p.Phe126Leu)
c.534C>G (p.Phe178Leu)
c.420C>G (p.Phe140Leu)
c.801C>G (p.Phe267Leu)
c.*94C>G (n.*94C>G)
n.545C>G
c.*465C>G (n.*465C>G)
n.304C>G
c.456C>G (p.Phe152Leu)
15g.26580368G=CA2165760516GABRB3c.633C= (p.Phe211=)
n.676C=
c.316C=
c.378C= (p.Phe126=)
c.534C= (p.Phe178=)
c.420C= (p.Phe140=)
c.801C= (p.Phe267=)
c.*94C= (n.*94C=)
n.545C=
c.*465C= (n.*465C=)
n.304C=
c.456C= (p.Phe152=)
15g.26580368G>TCA391463987GABRB3c.633C>A (p.Phe211Leu)
n.676C>A
c.316C>A
c.378C>A (p.Phe126Leu)
c.534C>A (p.Phe178Leu)
c.420C>A (p.Phe140Leu)
c.801C>A (p.Phe267Leu)
c.*94C>A (n.*94C>A)
n.545C>A
c.*465C>A (n.*465C>A)
n.304C>A
c.456C>A (p.Phe152Leu)
15g.26580369A>CCA391463988GABRB3c.632T>G (p.Phe211Cys)
n.675T>G
c.315T>G
c.377T>G (p.Phe126Cys)
c.533T>G (p.Phe178Cys)
c.419T>G (p.Phe140Cys)
c.800T>G (p.Phe267Cys)
c.*93T>G (n.*93T>G)
n.544T>G
c.*464T>G (n.*464T>G)
n.303T>G
c.455T>G (p.Phe152Cys)
15g.26580369A>GCA391463989GABRB3c.632T>C (p.Phe211Ser)
n.675T>C
c.315T>C
c.377T>C (p.Phe126Ser)
c.533T>C (p.Phe178Ser)
c.419T>C (p.Phe140Ser)
c.800T>C (p.Phe267Ser)
c.*93T>C (n.*93T>C)
n.544T>C
c.*464T>C (n.*464T>C)
n.303T>C
c.455T>C (p.Phe152Ser)
15g.26580369A>TCA391463990GABRB3c.632T>A (p.Phe211Tyr)
n.675T>A
c.315T>A
c.377T>A (p.Phe126Tyr)
c.533T>A (p.Phe178Tyr)
c.419T>A (p.Phe140Tyr)
c.800T>A (p.Phe267Tyr)
c.*93T>A (n.*93T>A)
n.544T>A
c.*464T>A (n.*464T>A)
n.303T>A
c.455T>A (p.Phe152Tyr)
15g.26580370A>CCA391463991GABRB3c.631T>G (p.Phe211Val)
n.674T>G
c.314T>G
c.376T>G (p.Phe126Val)
c.532T>G (p.Phe178Val)
c.418T>G (p.Phe140Val)
c.799T>G (p.Phe267Val)
c.*92T>G (n.*92T>G)
n.543T>G
c.*463T>G (n.*463T>G)
n.302T>G
c.454T>G (p.Phe152Val)
15g.26580370A>GCA391463992GABRB3c.631T>C (p.Phe211Leu)
n.674T>C
c.314T>C
c.376T>C (p.Phe126Leu)
c.532T>C (p.Phe178Leu)
c.418T>C (p.Phe140Leu)
c.799T>C (p.Phe267Leu)
c.*92T>C (n.*92T>C)
n.543T>C
c.*463T>C (n.*463T>C)
n.302T>C
c.454T>C (p.Phe152Leu)
15g.26580370A>TCA391463993GABRB3c.631T>A (p.Phe211Ile)
n.674T>A
c.314T>A
c.376T>A (p.Phe126Ile)
c.532T>A (p.Phe178Ile)
c.418T>A (p.Phe140Ile)
c.799T>A (p.Phe267Ile)
c.*92T>A (n.*92T>A)
n.543T>A
c.*463T>A (n.*463T>A)
n.302T>A
c.454T>A (p.Phe152Ile)
15g.26580370_26580371delinsCGCA2580089143GABRB3c.630_631delinsCG (p.Gln210_Phe211delinsHisVal)
n.673_674delinsCG
c.313_314delinsCG
c.375_376delinsCG (p.Gln125_Phe126delinsHisVal)
c.531_532delinsCG (p.Gln177_Phe178delinsHisVal)
c.417_418delinsCG (p.Gln139_Phe140delinsHisVal)
c.798_799delinsCG (p.Gln266_Phe267delinsHisVal)
c.*91_*92delinsCG (n.*91_*92delinsCG)
n.542_543delinsCG
c.*462_*463delinsCG (n.*462_*463delinsCG)
n.301_302delinsCG
c.453_454delinsCG (p.Gln151_Phe152delinsHisVal)
 ClinVar dbSNP
15g.26580371C>ACA391463995GABRB3c.630G>T (p.Gln210His)
n.673G>T
c.313G>T
c.375G>T (p.Gln125His)
c.531G>T (p.Gln177His)
c.417G>T (p.Gln139His)
c.798G>T (p.Gln266His)
c.*91G>T (n.*91G>T)
n.542G>T
c.*462G>T (n.*462G>T)
n.301G>T
c.453G>T (p.Gln151His)
15g.26580371C=CA2165760517GABRB3c.630G= (p.Gln210=)
n.673G=
c.313G=
c.375G= (p.Gln125=)
c.531G= (p.Gln177=)
c.417G= (p.Gln139=)
c.798G= (p.Gln266=)
c.*91G= (n.*91G=)
n.542G=
c.*462G= (n.*462G=)
n.301G=
c.453G= (p.Gln151=)
15g.26580371C>GCA391463994GABRB3c.630G>C (p.Gln210His)
n.673G>C
c.313G>C
c.375G>C (p.Gln125His)
c.531G>C (p.Gln177His)
c.417G>C (p.Gln139His)
c.798G>C (p.Gln266His)
c.*91G>C (n.*91G>C)
n.542G>C
c.*462G>C (n.*462G>C)
n.301G>C
c.453G>C (p.Gln151His)
 ClinVar dbSNP
15g.26580371C>TCA489071729GABRB3c.630G>A (p.Gln210=)
n.673G>A
c.313G>A
c.375G>A (p.Gln125=)
c.531G>A (p.Gln177=)
c.417G>A (p.Gln139=)
c.798G>A (p.Gln266=)
c.*91G>A (n.*91G>A)
n.542G>A
c.*462G>A (n.*462G>A)
n.301G>A
c.453G>A (p.Gln151=)
15g.26580372T>ACA391463996GABRB3c.629A>T (p.Gln210Leu)
n.672A>T
c.312A>T
c.374A>T (p.Gln125Leu)
c.530A>T (p.Gln177Leu)
c.416A>T (p.Gln139Leu)
c.797A>T (p.Gln266Leu)
c.*90A>T (n.*90A>T)
n.541A>T
c.*461A>T (n.*461A>T)
n.300A>T
c.452A>T (p.Gln151Leu)
15g.26580372T>CCA391463997GABRB3c.629A>G (p.Gln210Arg)
n.672A>G
c.312A>G
c.374A>G (p.Gln125Arg)
c.530A>G (p.Gln177Arg)
c.416A>G (p.Gln139Arg)
c.797A>G (p.Gln266Arg)
c.*90A>G (n.*90A>G)
n.541A>G
c.*461A>G (n.*461A>G)
n.300A>G
c.452A>G (p.Gln151Arg)
15g.26580372T>GCA391463998GABRB3c.629A>C (p.Gln210Pro)
n.672A>C
c.312A>C
c.374A>C (p.Gln125Pro)
c.530A>C (p.Gln177Pro)
c.416A>C (p.Gln139Pro)
c.797A>C (p.Gln266Pro)
c.*90A>C (n.*90A>C)
n.541A>C
c.*461A>C (n.*461A>C)
n.300A>C
c.452A>C (p.Gln151Pro)
15g.26580373G>ACA391463999GABRB3c.628C>T (p.Gln210Ter)
n.671C>T
c.311C>T
c.373C>T (p.Gln125Ter)
c.529C>T (p.Gln177Ter)
c.415C>T (p.Gln139Ter)
c.796C>T (p.Gln266Ter)
c.*89C>T (n.*89C>T)
n.540C>T
c.*460C>T (n.*460C>T)
n.299C>T
c.451C>T (p.Gln151Ter)
15g.26580373G>CCA391464000GABRB3c.628C>G (p.Gln210Glu)
n.671C>G
c.311C>G
c.373C>G (p.Gln125Glu)
c.529C>G (p.Gln177Glu)
c.415C>G (p.Gln139Glu)
c.796C>G (p.Gln266Glu)
c.*89C>G (n.*89C>G)
n.540C>G
c.*460C>G (n.*460C>G)
n.299C>G
c.451C>G (p.Gln151Glu)
15g.26580373G>TCA391464001GABRB3c.628C>A (p.Gln210Lys)
n.671C>A
c.311C>A
c.373C>A (p.Gln125Lys)
c.529C>A (p.Gln177Lys)
c.415C>A (p.Gln139Lys)
c.796C>A (p.Gln266Lys)
c.*89C>A (n.*89C>A)
n.540C>A
c.*460C>A (n.*460C>A)
n.299C>A
c.451C>A (p.Gln151Lys)
15g.26580374C>ACA489071730GABRB3c.627G>T (p.Pro209=)
n.670G>T
c.310G>T
c.372G>T (p.Pro124=)
c.528G>T (p.Pro176=)
c.414G>T (p.Pro138=)
c.795G>T (p.Pro265=)
c.*88G>T (n.*88G>T)
n.539G>T
c.*459G>T (n.*459G>T)
n.298G>T
c.450G>T (p.Pro150=)
 dbSNP gnomAD v4 COSMIC COSMIC COSMIC
15g.26580374C=CA2165760518GABRB3c.627G= (p.Pro209=)
n.670G=
c.310G=
c.372G= (p.Pro124=)
c.528G= (p.Pro176=)
c.414G= (p.Pro138=)
c.795G= (p.Pro265=)
c.*88G= (n.*88G=)
n.539G=
c.*459G= (n.*459G=)
n.298G=
c.450G= (p.Pro150=)
15g.26580374C>GCA489071731GABRB3c.627G>C (p.Pro209=)
n.670G>C
c.310G>C
c.372G>C (p.Pro124=)
c.528G>C (p.Pro176=)
c.414G>C (p.Pro138=)
c.795G>C (p.Pro265=)
c.*88G>C (n.*88G>C)
n.539G>C
c.*459G>C (n.*459G>C)
n.298G>C
c.450G>C (p.Pro150=)
15g.26580374C>TCA7437397GABRB3c.627G>A (p.Pro209=)
n.670G>A
c.310G>A
c.372G>A (p.Pro124=)
c.528G>A (p.Pro176=)
c.414G>A (p.Pro138=)
c.795G>A (p.Pro265=)
c.*88G>A (n.*88G>A)
n.539G>A
c.*459G>A (n.*459G>A)
n.298G>A
c.450G>A (p.Pro150=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.26580375G>ACA7437398GABRB3c.626C>T (p.Pro209Leu)
n.669C>T
c.309C>T
c.371C>T (p.Pro124Leu)
c.527C>T (p.Pro176Leu)
c.413C>T (p.Pro138Leu)
c.794C>T (p.Pro265Leu)
c.*87C>T (n.*87C>T)
n.538C>T
c.*458C>T (n.*458C>T)
n.297C>T
c.449C>T (p.Pro150Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC
15g.26580375G>CCA391464002GABRB3c.626C>G (p.Pro209Arg)
n.669C>G
c.309C>G
c.371C>G (p.Pro124Arg)
c.527C>G (p.Pro176Arg)
c.413C>G (p.Pro138Arg)
c.794C>G (p.Pro265Arg)
c.*87C>G (n.*87C>G)
n.538C>G
c.*458C>G (n.*458C>G)
n.297C>G
c.449C>G (p.Pro150Arg)
15g.26580375G=CA2165760519GABRB3c.626C= (p.Pro209=)
n.669C=
c.309C=
c.371C= (p.Pro124=)
c.527C= (p.Pro176=)
c.413C= (p.Pro138=)
c.794C= (p.Pro265=)
c.*87C= (n.*87C=)
n.538C=
c.*458C= (n.*458C=)
n.297C=
c.449C= (p.Pro150=)
15g.26580375G>TCA391464003GABRB3c.626C>A (p.Pro209Gln)
n.669C>A
c.309C>A
c.371C>A (p.Pro124Gln)
c.527C>A (p.Pro176Gln)
c.413C>A (p.Pro138Gln)
c.794C>A (p.Pro265Gln)
c.*87C>A (n.*87C>A)
n.538C>A
c.*458C>A (n.*458C>A)
n.297C>A
c.449C>A (p.Pro150Gln)
15g.26580376G>ACA391464004GABRB3c.625C>T (p.Pro209Ser)
n.668C>T
c.308C>T
c.370C>T (p.Pro124Ser)
c.526C>T (p.Pro176Ser)
c.412C>T (p.Pro138Ser)
c.793C>T (p.Pro265Ser)
c.*86C>T (n.*86C>T)
n.537C>T
c.*457C>T (n.*457C>T)
n.296C>T
c.448C>T (p.Pro150Ser)
 COSMIC COSMIC COSMIC
15g.26580376G>CCA391464005GABRB3c.625C>G (p.Pro209Ala)
n.668C>G
c.308C>G
c.370C>G (p.Pro124Ala)
c.526C>G (p.Pro176Ala)
c.412C>G (p.Pro138Ala)
c.793C>G (p.Pro265Ala)
c.*86C>G (n.*86C>G)
n.537C>G
c.*457C>G (n.*457C>G)
n.296C>G
c.448C>G (p.Pro150Ala)
15g.26580376G>TCA391464006GABRB3c.625C>A (p.Pro209Thr)
n.668C>A
c.308C>A
c.370C>A (p.Pro124Thr)
c.526C>A (p.Pro176Thr)
c.412C>A (p.Pro138Thr)
c.793C>A (p.Pro265Thr)
c.*86C>A (n.*86C>A)
n.537C>A
c.*457C>A (n.*457C>A)
n.296C>A
c.448C>A (p.Pro150Thr)
15g.26580377G>ACA489071734GABRB3c.624C>T (p.Leu208=)
n.667C>T
c.307C>T
c.369C>T (p.Leu123=)
c.525C>T (p.Leu175=)
c.411C>T (p.Leu137=)
c.792C>T (p.Leu264=)
c.*85C>T (n.*85C>T)
n.536C>T
c.*456C>T (n.*456C>T)
n.295C>T
c.447C>T (p.Leu149=)
15g.26580377G>CCA489071733GABRB3c.624C>G (p.Leu208=)
n.667C>G
c.307C>G
c.369C>G (p.Leu123=)
c.525C>G (p.Leu175=)
c.411C>G (p.Leu137=)
c.792C>G (p.Leu264=)
c.*85C>G (n.*85C>G)
n.536C>G
c.*456C>G (n.*456C>G)
n.295C>G
c.447C>G (p.Leu149=)
 gnomAD v4
15g.26580377G>TCA489071732GABRB3c.624C>A (p.Leu208=)
n.667C>A
c.307C>A
c.369C>A (p.Leu123=)
c.525C>A (p.Leu175=)
c.411C>A (p.Leu137=)
c.792C>A (p.Leu264=)
c.*85C>A (n.*85C>A)
n.536C>A
c.*456C>A (n.*456C>A)
n.295C>A
c.447C>A (p.Leu149=)
15g.26580378A>CCA391464007GABRB3c.623T>G (p.Leu208Arg)
n.666T>G
c.306T>G
c.368T>G (p.Leu123Arg)
c.524T>G (p.Leu175Arg)
c.410T>G (p.Leu137Arg)
c.791T>G (p.Leu264Arg)
c.*84T>G (n.*84T>G)
n.535T>G
c.*455T>G (n.*455T>G)
n.294T>G
c.446T>G (p.Leu149Arg)
15g.26580378A>GCA391464008GABRB3c.623T>C (p.Leu208Pro)
n.666T>C
c.306T>C
c.368T>C (p.Leu123Pro)
c.524T>C (p.Leu175Pro)
c.410T>C (p.Leu137Pro)
c.791T>C (p.Leu264Pro)
c.*84T>C (n.*84T>C)
n.535T>C
c.*455T>C (n.*455T>C)
n.294T>C
c.446T>C (p.Leu149Pro)
15g.26580378A>TCA391464009GABRB3c.623T>A (p.Leu208His)
n.666T>A
c.306T>A
c.368T>A (p.Leu123His)
c.524T>A (p.Leu175His)
c.410T>A (p.Leu137His)
c.791T>A (p.Leu264His)
c.*84T>A (n.*84T>A)
n.535T>A
c.*455T>A (n.*455T>A)
n.294T>A
c.446T>A (p.Leu149His)
15g.26580379_26580383delCA2573053974GABRB3c.619_623del (p.Glu207ProfsTer?)
n.662_666del
c.302_306del
c.364_368del (p.Glu122ProfsTer?)
c.520_524del (p.Glu174ProfsTer?)
c.406_410del (p.Glu136ProfsTer?)
c.787_791del (p.Glu263ProfsTer?)
c.*80_*84del (n.*80_*84del)
n.531_535del
c.*451_*455del (n.*451_*455del)
n.290_294del
c.442_446del (p.Glu148ProfsTer?)
 ClinVar dbSNP
15g.26580379G>ACA391464010GABRB3c.622C>T (p.Leu208Phe)
n.665C>T
c.305C>T
c.367C>T (p.Leu123Phe)
c.523C>T (p.Leu175Phe)
c.409C>T (p.Leu137Phe)
c.790C>T (p.Leu264Phe)
c.*83C>T (n.*83C>T)
n.534C>T
c.*454C>T (n.*454C>T)
n.293C>T
c.445C>T (p.Leu149Phe)
 dbSNP gnomAD v4 COSMIC COSMIC COSMIC
15g.26580379G>CCA391464012GABRB3c.622C>G (p.Leu208Val)
n.665C>G
c.305C>G
c.367C>G (p.Leu123Val)
c.523C>G (p.Leu175Val)
c.409C>G (p.Leu137Val)
c.790C>G (p.Leu264Val)
c.*83C>G (n.*83C>G)
n.534C>G
c.*454C>G (n.*454C>G)
n.293C>G
c.445C>G (p.Leu149Val)
15g.26580379G=CA2165760520GABRB3c.622C= (p.Leu208=)
n.665C=
c.305C=
c.367C= (p.Leu123=)
c.523C= (p.Leu175=)
c.409C= (p.Leu137=)
c.790C= (p.Leu264=)
c.*83C= (n.*83C=)
n.534C=
c.*454C= (n.*454C=)
n.293C=
c.445C= (p.Leu149=)
15g.26580379G>TCA391464011GABRB3c.622C>A (p.Leu208Ile)
n.665C>A
c.305C>A
c.367C>A (p.Leu123Ile)
c.523C>A (p.Leu175Ile)
c.409C>A (p.Leu137Ile)
c.790C>A (p.Leu264Ile)
c.*83C>A (n.*83C>A)
n.534C>A
c.*454C>A (n.*454C>A)
n.293C>A
c.445C>A (p.Leu149Ile)
15g.26580380C>ACA391464013GABRB3c.621G>T (p.Glu207Asp)
n.664G>T
c.304G>T
c.366G>T (p.Glu122Asp)
c.522G>T (p.Glu174Asp)
c.408G>T (p.Glu136Asp)
c.789G>T (p.Glu263Asp)
c.*82G>T (n.*82G>T)
n.533G>T
c.*453G>T (n.*453G>T)
n.292G>T
c.444G>T (p.Glu148Asp)
 COSMIC COSMIC COSMIC
15g.26580380C=CA2165760521GABRB3c.621G= (p.Glu207=)
n.664G=
c.304G=
c.366G= (p.Glu122=)
c.522G= (p.Glu174=)
c.408G= (p.Glu136=)
c.789G= (p.Glu263=)
c.*82G= (n.*82G=)
n.533G=
c.*453G= (n.*453G=)
n.292G=
c.444G= (p.Glu148=)
15g.26580380C>GCA391464014GABRB3c.621G>C (p.Glu207Asp)
n.664G>C
c.304G>C
c.366G>C (p.Glu122Asp)
c.522G>C (p.Glu174Asp)
c.408G>C (p.Glu136Asp)
c.789G>C (p.Glu263Asp)
c.*82G>C (n.*82G>C)
n.533G>C
c.*453G>C (n.*453G>C)
n.292G>C
c.444G>C (p.Glu148Asp)
15g.26580380C>TCA489071735GABRB3c.621G>A (p.Glu207=)
n.664G>A
c.304G>A
c.366G>A (p.Glu122=)
c.522G>A (p.Glu174=)
c.408G>A (p.Glu136=)
c.789G>A (p.Glu263=)
c.*82G>A (n.*82G>A)
n.533G>A
c.*453G>A (n.*453G>A)
n.292G>A
c.444G>A (p.Glu148=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
15g.26580381T>ACA391464015GABRB3c.620A>T (p.Glu207Val)
n.663A>T
c.303A>T
c.365A>T (p.Glu122Val)
c.521A>T (p.Glu174Val)
c.407A>T (p.Glu136Val)
c.788A>T (p.Glu263Val)
c.*81A>T (n.*81A>T)
n.532A>T
c.*452A>T (n.*452A>T)
n.291A>T
c.443A>T (p.Glu148Val)
15g.26580381T>CCA391464016GABRB3c.620A>G (p.Glu207Gly)
n.663A>G
c.303A>G
c.365A>G (p.Glu122Gly)
c.521A>G (p.Glu174Gly)
c.407A>G (p.Glu136Gly)
c.788A>G (p.Glu263Gly)
c.*81A>G (n.*81A>G)
n.532A>G
c.*452A>G (n.*452A>G)
n.291A>G
c.443A>G (p.Glu148Gly)
15g.26580381T>GCA7437399GABRB3c.620A>C (p.Glu207Ala)
n.663A>C
c.303A>C
c.365A>C (p.Glu122Ala)
c.521A>C (p.Glu174Ala)
c.407A>C (p.Glu136Ala)
c.788A>C (p.Glu263Ala)
c.*81A>C (n.*81A>C)
n.532A>C
c.*452A>C (n.*452A>C)
n.291A>C
c.443A>C (p.Glu148Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.26580381T=CA2165760522GABRB3c.620A= (p.Glu207=)
n.663A=
c.303A=
c.365A= (p.Glu122=)
c.521A= (p.Glu174=)
c.407A= (p.Glu136=)
c.788A= (p.Glu263=)
c.*81A= (n.*81A=)
n.532A=
c.*452A= (n.*452A=)
n.291A=
c.443A= (p.Glu148=)
15g.26580382C>ACA391464017GABRB3c.619G>T (p.Glu207Ter)
n.662G>T
c.302G>T
c.364G>T (p.Glu122Ter)
c.520G>T (p.Glu174Ter)
c.406G>T (p.Glu136Ter)
c.787G>T (p.Glu263Ter)
c.*80G>T (n.*80G>T)
n.531G>T
c.*451G>T (n.*451G>T)
n.290G>T
c.442G>T (p.Glu148Ter)
15g.26580382C>GCA391464018GABRB3c.619G>C (p.Glu207Gln)
n.662G>C
c.302G>C
c.364G>C (p.Glu122Gln)
c.520G>C (p.Glu174Gln)
c.406G>C (p.Glu136Gln)
c.787G>C (p.Glu263Gln)
c.*80G>C (n.*80G>C)
n.531G>C
c.*451G>C (n.*451G>C)
n.290G>C
c.442G>C (p.Glu148Gln)
15g.26580382C>TCA391464019GABRB3c.619G>A (p.Glu207Lys)
n.662G>A
c.302G>A
c.364G>A (p.Glu122Lys)
c.520G>A (p.Glu174Lys)
c.406G>A (p.Glu136Lys)
c.787G>A (p.Glu263Lys)
c.*80G>A (n.*80G>A)
n.531G>A
c.*451G>A (n.*451G>A)
n.290G>A
c.442G>A (p.Glu148Lys)
 gnomAD v4
15g.26580383A>CCA391464020GABRB3c.618T>G (p.Ile206Met)
n.661T>G
c.301T>G
c.363T>G (p.Ile121Met)
c.519T>G (p.Ile173Met)
c.405T>G (p.Ile135Met)
c.786T>G (p.Ile262Met)
c.*79T>G (n.*79T>G)
n.530T>G
c.*450T>G (n.*450T>G)
n.289T>G
c.441T>G (p.Ile147Met)
15g.26580383A>GCA489071736GABRB3c.618T>C (p.Ile206=)
n.661T>C
c.301T>C
c.363T>C (p.Ile121=)
c.519T>C (p.Ile173=)
c.405T>C (p.Ile135=)
c.786T>C (p.Ile262=)
c.*79T>C (n.*79T>C)
n.530T>C
c.*450T>C (n.*450T>C)
n.289T>C
c.441T>C (p.Ile147=)
 dbSNP gnomAD v4
15g.26580383A>TCA489071737GABRB3c.618T>A (p.Ile206=)
n.661T>A
c.301T>A
c.363T>A (p.Ile121=)
c.519T>A (p.Ile173=)
c.405T>A (p.Ile135=)
c.786T>A (p.Ile262=)
c.*79T>A (n.*79T>A)
n.530T>A
c.*450T>A (n.*450T>A)
n.289T>A
c.441T>A (p.Ile147=)
15g.26580384A>CCA391464021GABRB3c.617T>G (p.Ile206Ser)
n.660T>G
c.300T>G
c.362T>G (p.Ile121Ser)
c.518T>G (p.Ile173Ser)
c.404T>G (p.Ile135Ser)
c.785T>G (p.Ile262Ser)
c.*78T>G (n.*78T>G)
n.529T>G
c.*449T>G (n.*449T>G)
n.288T>G
c.440T>G (p.Ile147Ser)
15g.26580384A>GCA391464022GABRB3c.617T>C (p.Ile206Thr)
n.660T>C
c.300T>C
c.362T>C (p.Ile121Thr)
c.518T>C (p.Ile173Thr)
c.404T>C (p.Ile135Thr)
c.785T>C (p.Ile262Thr)
c.*78T>C (n.*78T>C)
n.529T>C
c.*449T>C (n.*449T>C)
n.288T>C
c.440T>C (p.Ile147Thr)
15g.26580384A>TCA391464026GABRB3c.617T>A (p.Ile206Asn)
n.660T>A
c.300T>A
c.362T>A (p.Ile121Asn)
c.518T>A (p.Ile173Asn)
c.404T>A (p.Ile135Asn)
c.785T>A (p.Ile262Asn)
c.*78T>A (n.*78T>A)
n.529T>A
c.*449T>A (n.*449T>A)
n.288T>A
c.440T>A (p.Ile147Asn)
15g.26580385T>ACA391464027GABRB3c.616A>T (p.Ile206Phe)
n.659A>T
c.299A>T
c.361A>T (p.Ile121Phe)
c.517A>T (p.Ile173Phe)
c.403A>T (p.Ile135Phe)
c.784A>T (p.Ile262Phe)
c.*77A>T (n.*77A>T)
n.528A>T
c.*448A>T (n.*448A>T)
n.287A>T
c.439A>T (p.Ile147Phe)
15g.26580385T>CCA391464029GABRB3c.616A>G (p.Ile206Val)
n.659A>G
c.299A>G
c.361A>G (p.Ile121Val)
c.517A>G (p.Ile173Val)
c.403A>G (p.Ile135Val)
c.784A>G (p.Ile262Val)
c.*77A>G (n.*77A>G)
n.528A>G
c.*448A>G (n.*448A>G)
n.287A>G
c.439A>G (p.Ile147Val)
15g.26580385T>GCA391464028GABRB3c.616A>C (p.Ile206Leu)
n.659A>C
c.299A>C
c.361A>C (p.Ile121Leu)
c.517A>C (p.Ile173Leu)
c.403A>C (p.Ile135Leu)
c.784A>C (p.Ile262Leu)
c.*77A>C (n.*77A>C)
n.528A>C
c.*448A>C (n.*448A>C)
n.287A>C
c.439A>C (p.Ile147Leu)
15g.26580386C>ACA391464031GABRB3c.615G>T (p.Arg205Ser)
n.658G>T
c.298G>T
c.360G>T (p.Arg120Ser)
c.516G>T (p.Arg172Ser)
c.402G>T (p.Arg134Ser)
c.783G>T (p.Arg261Ser)
c.*76G>T (n.*76G>T)
n.527G>T
c.*447G>T (n.*447G>T)
n.286G>T
c.438G>T (p.Arg146Ser)
 gnomAD v4
15g.26580386C>GCA391464032GABRB3c.615G>C (p.Arg205Ser)
n.658G>C
c.298G>C
c.360G>C (p.Arg120Ser)
c.516G>C (p.Arg172Ser)
c.402G>C (p.Arg134Ser)
c.783G>C (p.Arg261Ser)
c.*76G>C (n.*76G>C)
n.527G>C
c.*447G>C (n.*447G>C)
n.286G>C
c.438G>C (p.Arg146Ser)
15g.26580386C>TCA489071738GABRB3c.615G>A (p.Arg205=)
n.658G>A
c.298G>A
c.360G>A (p.Arg120=)
c.516G>A (p.Arg172=)
c.402G>A (p.Arg134=)
c.783G>A (p.Arg261=)
c.*76G>A (n.*76G>A)
n.527G>A
c.*447G>A (n.*447G>A)
n.286G>A
c.438G>A (p.Arg146=)
 COSMIC COSMIC COSMIC
15g.26580387C>ACA391464033GABRB3c.614G>T (p.Arg205Met)
n.657G>T
c.297G>T
c.359G>T (p.Arg120Met)
c.515G>T (p.Arg172Met)
c.401G>T (p.Arg134Met)
c.782G>T (p.Arg261Met)
c.*75G>T (n.*75G>T)
n.526G>T
c.*446G>T (n.*446G>T)
n.285G>T
c.437G>T (p.Arg146Met)
15g.26580387C>GCA391464035GABRB3c.614G>C (p.Arg205Thr)
n.657G>C
c.297G>C
c.359G>C (p.Arg120Thr)
c.515G>C (p.Arg172Thr)
c.401G>C (p.Arg134Thr)
c.782G>C (p.Arg261Thr)
c.*75G>C (n.*75G>C)
n.526G>C
c.*446G>C (n.*446G>C)
n.285G>C
c.437G>C (p.Arg146Thr)
15g.26580387C>TCA391464038GABRB3c.614G>A (p.Arg205Lys)
n.657G>A
c.297G>A
c.359G>A (p.Arg120Lys)
c.515G>A (p.Arg172Lys)
c.401G>A (p.Arg134Lys)
c.782G>A (p.Arg261Lys)
c.*75G>A (n.*75G>A)
n.526G>A
c.*446G>A (n.*446G>A)
n.285G>A
c.437G>A (p.Arg146Lys)
 gnomAD v4
15g.26580388T>ACA391464040GABRB3c.613A>T (p.Arg205Trp)
n.656A>T
c.296A>T
c.358A>T (p.Arg120Trp)
c.514A>T (p.Arg172Trp)
c.400A>T (p.Arg134Trp)
c.781A>T (p.Arg261Trp)
c.*74A>T (n.*74A>T)
n.525A>T
c.*445A>T (n.*445A>T)
n.284A>T
c.436A>T (p.Arg146Trp)
15g.26580388T>CCA391464041GABRB3c.613A>G (p.Arg205Gly)
n.656A>G
c.296A>G
c.358A>G (p.Arg120Gly)
c.514A>G (p.Arg172Gly)
c.400A>G (p.Arg134Gly)
c.781A>G (p.Arg261Gly)
c.*74A>G (n.*74A>G)
n.525A>G
c.*445A>G (n.*445A>G)
n.284A>G
c.436A>G (p.Arg146Gly)
15g.26580388T>GCA489071739GABRB3c.613A>C (p.Arg205=)
n.656A>C
c.296A>C
c.358A>C (p.Arg120=)
c.514A>C (p.Arg172=)
c.400A>C (p.Arg134=)
c.781A>C (p.Arg261=)
c.*74A>C (n.*74A>C)
n.525A>C
c.*445A>C (n.*445A>C)
n.284A>C
c.436A>C (p.Arg146=)
15g.26580389T>ACA391464042GABRB3c.612A>T (p.Glu204Asp)
n.655A>T
c.295A>T
c.357A>T (p.Glu119Asp)
c.513A>T (p.Glu171Asp)
c.399A>T (p.Glu133Asp)
c.780A>T (p.Glu260Asp)
c.*73A>T (n.*73A>T)
n.524A>T
c.*444A>T (n.*444A>T)
n.283A>T
c.435A>T (p.Glu145Asp)
15g.26580389T>CCA489071740GABRB3c.612A>G (p.Glu204=)
n.655A>G
c.295A>G
c.357A>G (p.Glu119=)
c.513A>G (p.Glu171=)
c.399A>G (p.Glu133=)
c.780A>G (p.Glu260=)
c.*73A>G (n.*73A>G)
n.524A>G
c.*444A>G (n.*444A>G)
n.283A>G
c.435A>G (p.Glu145=)
15g.26580389T>GCA391464043GABRB3c.612A>C (p.Glu204Asp)
n.655A>C
c.295A>C
c.357A>C (p.Glu119Asp)
c.513A>C (p.Glu171Asp)
c.399A>C (p.Glu133Asp)
c.780A>C (p.Glu260Asp)
c.*73A>C (n.*73A>C)
n.524A>C
c.*444A>C (n.*444A>C)
n.283A>C
c.435A>C (p.Glu145Asp)
15g.26580390T>ACA391464044GABRB3c.611A>T (p.Glu204Val)
n.654A>T
c.294A>T
c.356A>T (p.Glu119Val)
c.512A>T (p.Glu171Val)
c.398A>T (p.Glu133Val)
c.779A>T (p.Glu260Val)
c.*72A>T (n.*72A>T)
n.523A>T
c.*443A>T (n.*443A>T)
n.282A>T
c.434A>T (p.Glu145Val)
15g.26580390T>CCA391464045GABRB3c.611A>G (p.Glu204Gly)
n.654A>G
c.294A>G
c.356A>G (p.Glu119Gly)
c.512A>G (p.Glu171Gly)
c.398A>G (p.Glu133Gly)
c.779A>G (p.Glu260Gly)
c.*72A>G (n.*72A>G)
n.523A>G
c.*443A>G (n.*443A>G)
n.282A>G
c.434A>G (p.Glu145Gly)
15g.26580390T>GCA391464046GABRB3c.611A>C (p.Glu204Ala)
n.654A>C
c.294A>C
c.356A>C (p.Glu119Ala)
c.512A>C (p.Glu171Ala)
c.398A>C (p.Glu133Ala)
c.779A>C (p.Glu260Ala)
c.*72A>C (n.*72A>C)
n.523A>C
c.*443A>C (n.*443A>C)
n.282A>C
c.434A>C (p.Glu145Ala)
15g.26580391C>ACA391464053GABRB3c.610G>T (p.Glu204Ter)
n.653G>T
c.293G>T
c.355G>T (p.Glu119Ter)
c.511G>T (p.Glu171Ter)
c.397G>T (p.Glu133Ter)
c.778G>T (p.Glu260Ter)
c.*71G>T (n.*71G>T)
n.522G>T
c.*442G>T (n.*442G>T)
n.281G>T
c.433G>T (p.Glu145Ter)
15g.26580391C>GCA391464052GABRB3c.610G>C (p.Glu204Gln)
n.653G>C
c.293G>C
c.355G>C (p.Glu119Gln)
c.511G>C (p.Glu171Gln)
c.397G>C (p.Glu133Gln)
c.778G>C (p.Glu260Gln)
c.*71G>C (n.*71G>C)
n.522G>C
c.*442G>C (n.*442G>C)
n.281G>C
c.433G>C (p.Glu145Gln)
15g.26580391C>TCA391464048GABRB3c.610G>A (p.Glu204Lys)
n.653G>A
c.293G>A
c.355G>A (p.Glu119Lys)
c.511G>A (p.Glu171Lys)
c.397G>A (p.Glu133Lys)
c.778G>A (p.Glu260Lys)
c.*71G>A (n.*71G>A)
n.522G>A
c.*442G>A (n.*442G>A)
n.281G>A
c.433G>A (p.Glu145Lys)
15g.26580392C>ACA489071741GABRB3c.609G>T (p.Val203=)
n.652G>T
c.292G>T
c.354G>T (p.Val118=)
c.510G>T (p.Val170=)
c.396G>T (p.Val132=)
c.777G>T (p.Val259=)
c.*70G>T (n.*70G>T)
n.521G>T
c.*441G>T (n.*441G>T)
n.280G>T
c.432G>T (p.Val144=)
15g.26580392C=CA2165760523GABRB3c.609G= (p.Val203=)
n.652G=
c.292G=
c.354G= (p.Val118=)
c.510G= (p.Val170=)
c.396G= (p.Val132=)
c.777G= (p.Val259=)
c.*70G= (n.*70G=)
n.521G=
c.*441G= (n.*441G=)
n.280G=
c.432G= (p.Val144=)
15g.26580392C>GCA489071742GABRB3c.609G>C (p.Val203=)
n.652G>C
c.292G>C
c.354G>C (p.Val118=)
c.510G>C (p.Val170=)
c.396G>C (p.Val132=)
c.777G>C (p.Val259=)
c.*70G>C (n.*70G>C)
n.521G>C
c.*441G>C (n.*441G>C)
n.280G>C
c.432G>C (p.Val144=)
 gnomAD v4
15g.26580392C>TCA489071743GABRB3c.609G>A (p.Val203=)
n.652G>A
c.292G>A
c.354G>A (p.Val118=)
c.510G>A (p.Val170=)
c.396G>A (p.Val132=)
c.777G>A (p.Val259=)
c.*70G>A (n.*70G>A)
n.521G>A
c.*441G>A (n.*441G>A)
n.280G>A
c.432G>A (p.Val144=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.26580393A=CA2165760524GABRB3c.608T= (p.Val203=)
n.651T=
c.291T=
c.353T= (p.Val118=)
c.509T= (p.Val170=)
c.395T= (p.Val132=)
c.776T= (p.Val259=)
c.*69T= (n.*69T=)
n.520T=
c.*440T= (n.*440T=)
n.279T=
c.431T= (p.Val144=)
15g.26580393A>CCA391464054GABRB3c.608T>G (p.Val203Gly)
n.651T>G
c.291T>G
c.353T>G (p.Val118Gly)
c.509T>G (p.Val170Gly)
c.395T>G (p.Val132Gly)
c.776T>G (p.Val259Gly)
c.*69T>G (n.*69T>G)
n.520T>G
c.*440T>G (n.*440T>G)
n.279T>G
c.431T>G (p.Val144Gly)
 dbSNP
15g.26580393A>GCA391464055GABRB3c.608T>C (p.Val203Ala)
n.651T>C
c.291T>C
c.353T>C (p.Val118Ala)
c.509T>C (p.Val170Ala)
c.395T>C (p.Val132Ala)
c.776T>C (p.Val259Ala)
c.*69T>C (n.*69T>C)
n.520T>C
c.*440T>C (n.*440T>C)
n.279T>C
c.431T>C (p.Val144Ala)
15g.26580393A>TCA391464057GABRB3c.608T>A (p.Val203Glu)
n.651T>A
c.291T>A
c.353T>A (p.Val118Glu)
c.509T>A (p.Val170Glu)
c.395T>A (p.Val132Glu)
c.776T>A (p.Val259Glu)
c.*69T>A (n.*69T>A)
n.520T>A
c.*440T>A (n.*440T>A)
n.279T>A
c.431T>A (p.Val144Glu)
15g.26580394C>ACA391464060GABRB3c.607G>T (p.Val203Leu)
n.650G>T
c.290G>T
c.352G>T (p.Val118Leu)
c.508G>T (p.Val170Leu)
c.394G>T (p.Val132Leu)
c.775G>T (p.Val259Leu)
c.*68G>T (n.*68G>T)
n.519G>T
c.*439G>T (n.*439G>T)
n.278G>T
c.430G>T (p.Val144Leu)
15g.26580394C>GCA391464064GABRB3c.607G>C (p.Val203Leu)
n.650G>C
c.290G>C
c.352G>C (p.Val118Leu)
c.508G>C (p.Val170Leu)
c.394G>C (p.Val132Leu)
c.775G>C (p.Val259Leu)
c.*68G>C (n.*68G>C)
n.519G>C
c.*439G>C (n.*439G>C)
n.278G>C
c.430G>C (p.Val144Leu)
15g.26580394C>TCA391464066GABRB3c.607G>A (p.Val203Met)
n.650G>A
c.290G>A
c.352G>A (p.Val118Met)
c.508G>A (p.Val170Met)
c.394G>A (p.Val132Met)
c.775G>A (p.Val259Met)
c.*68G>A (n.*68G>A)
n.519G>A
c.*439G>A (n.*439G>A)
n.278G>A
c.430G>A (p.Val144Met)
15g.26580395T>ACA489071746GABRB3c.606A>T (p.Gly202=)
n.649A>T
c.289A>T
c.351A>T (p.Gly117=)
c.507A>T (p.Gly169=)
c.393A>T (p.Gly131=)
c.774A>T (p.Gly258=)
c.*67A>T (n.*67A>T)
n.518A>T
c.*438A>T (n.*438A>T)
n.277A>T
c.429A>T (p.Gly143=)
15g.26580395T>CCA489071744GABRB3c.606A>G (p.Gly202=)
n.649A>G
c.289A>G
c.351A>G (p.Gly117=)
c.507A>G (p.Gly169=)
c.393A>G (p.Gly131=)
c.774A>G (p.Gly258=)
c.*67A>G (n.*67A>G)
n.518A>G
c.*438A>G (n.*438A>G)
n.277A>G
c.429A>G (p.Gly143=)
15g.26580395T>GCA489071745GABRB3c.606A>C (p.Gly202=)
n.649A>C
c.289A>C
c.351A>C (p.Gly117=)
c.507A>C (p.Gly169=)
c.393A>C (p.Gly131=)
c.774A>C (p.Gly258=)
c.*67A>C (n.*67A>C)
n.518A>C
c.*438A>C (n.*438A>C)
n.277A>C
c.429A>C (p.Gly143=)
15g.26580396C>ACA391464068GABRB3c.605G>T (p.Gly202Val)
n.648G>T
c.288G>T
c.350G>T (p.Gly117Val)
c.506G>T (p.Gly169Val)
c.392G>T (p.Gly131Val)
c.773G>T (p.Gly258Val)
c.*66G>T (n.*66G>T)
n.517G>T
c.*437G>T (n.*437G>T)
n.276G>T
c.428G>T (p.Gly143Val)
15g.26580396C>GCA391464070GABRB3c.605G>C (p.Gly202Ala)
n.648G>C
c.288G>C
c.350G>C (p.Gly117Ala)
c.506G>C (p.Gly169Ala)
c.392G>C (p.Gly131Ala)
c.773G>C (p.Gly258Ala)
c.*66G>C (n.*66G>C)
n.517G>C
c.*437G>C (n.*437G>C)
n.276G>C
c.428G>C (p.Gly143Ala)
15g.26580396C>TCA391464071GABRB3c.605G>A (p.Gly202Glu)
n.648G>A
c.288G>A
c.350G>A (p.Gly117Glu)
c.506G>A (p.Gly169Glu)
c.392G>A (p.Gly131Glu)
c.773G>A (p.Gly258Glu)
c.*66G>A (n.*66G>A)
n.517G>A
c.*437G>A (n.*437G>A)
n.276G>A
c.428G>A (p.Gly143Glu)
15g.26580397C>ACA391464073GABRB3c.604G>T (p.Gly202Ter)
n.647G>T
c.287G>T
c.349G>T (p.Gly117Ter)
c.505G>T (p.Gly169Ter)
c.391G>T (p.Gly131Ter)
c.772G>T (p.Gly258Ter)
c.*65G>T (n.*65G>T)
n.516G>T
c.*436G>T (n.*436G>T)
n.275G>T
c.427G>T (p.Gly143Ter)
15g.26580397C=CA2165760525GABRB3c.604G= (p.Gly202=)
n.647G=
c.287G=
c.349G= (p.Gly117=)
c.505G= (p.Gly169=)
c.391G= (p.Gly131=)
c.772G= (p.Gly258=)
c.*65G= (n.*65G=)
n.516G=
c.*436G= (n.*436G=)
n.275G=
c.427G= (p.Gly143=)
15g.26580397C>GCA391464074GABRB3c.604G>C (p.Gly202Arg)
n.647G>C
c.287G>C
c.349G>C (p.Gly117Arg)
c.505G>C (p.Gly169Arg)
c.391G>C (p.Gly131Arg)
c.772G>C (p.Gly258Arg)
c.*65G>C (n.*65G>C)
n.516G>C
c.*436G>C (n.*436G>C)
n.275G>C
c.427G>C (p.Gly143Arg)
15g.26580397C>TCA7437400GABRB3c.604G>A (p.Gly202Arg)
n.647G>A
c.287G>A
c.349G>A (p.Gly117Arg)
c.505G>A (p.Gly169Arg)
c.391G>A (p.Gly131Arg)
c.772G>A (p.Gly258Arg)
c.*65G>A (n.*65G>A)
n.516G>A
c.*436G>A (n.*436G>A)
n.275G>A
c.427G>A (p.Gly143Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.26580398G>ACA7437401GABRB3c.603C>T (p.Thr201=)
n.646C>T
c.286C>T
c.348C>T (p.Thr116=)
c.504C>T (p.Thr168=)
c.390C>T (p.Thr130=)
c.771C>T (p.Thr257=)
c.*64C>T (n.*64C>T)
n.515C>T
c.*435C>T (n.*435C>T)
n.274C>T
c.426C>T (p.Thr142=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.26580398G>CCA489071747GABRB3c.603C>G (p.Thr201=)
n.646C>G
c.286C>G
c.348C>G (p.Thr116=)
c.504C>G (p.Thr168=)
c.390C>G (p.Thr130=)
c.771C>G (p.Thr257=)
c.*64C>G (n.*64C>G)
n.515C>G
c.*435C>G (n.*435C>G)
n.274C>G
c.426C>G (p.Thr142=)
15g.26580398G=CA2165760526GABRB3c.603C= (p.Thr201=)
n.646C=
c.286C=
c.348C= (p.Thr116=)
c.504C= (p.Thr168=)
c.390C= (p.Thr130=)
c.771C= (p.Thr257=)
c.*64C= (n.*64C=)
n.515C=
c.*435C= (n.*435C=)
n.274C=
c.426C= (p.Thr142=)
15g.26580398G>TCA489071748GABRB3c.603C>A (p.Thr201=)
n.646C>A
c.286C>A
c.348C>A (p.Thr116=)
c.504C>A (p.Thr168=)
c.390C>A (p.Thr130=)
c.771C>A (p.Thr257=)
c.*64C>A (n.*64C>A)
n.515C>A
c.*435C>A (n.*435C>A)
n.274C>A
c.426C>A (p.Thr142=)
 dbSNP gnomAD v2 gnomAD v4
15g.26580399G>ACA391464076GABRB3c.602C>T (p.Thr201Ile)
n.645C>T
c.285C>T
c.347C>T (p.Thr116Ile)
c.503C>T (p.Thr168Ile)
c.389C>T (p.Thr130Ile)
c.770C>T (p.Thr257Ile)
c.*63C>T (n.*63C>T)
n.514C>T
c.*434C>T (n.*434C>T)
n.273C>T
c.425C>T (p.Thr142Ile)
15g.26580399G>CCA391464077GABRB3c.602C>G (p.Thr201Ser)
n.645C>G
c.285C>G
c.347C>G (p.Thr116Ser)
c.503C>G (p.Thr168Ser)
c.389C>G (p.Thr130Ser)
c.770C>G (p.Thr257Ser)
c.*63C>G (n.*63C>G)
n.514C>G
c.*434C>G (n.*434C>G)
n.273C>G
c.425C>G (p.Thr142Ser)
 dbSNP
15g.26580399G=CA2165760527GABRB3c.602C= (p.Thr201=)
n.645C=
c.285C=
c.347C= (p.Thr116=)
c.503C= (p.Thr168=)
c.389C= (p.Thr130=)
c.770C= (p.Thr257=)
c.*63C= (n.*63C=)
n.514C=
c.*434C= (n.*434C=)
n.273C=
c.425C= (p.Thr142=)
15g.26580399G>TCA391464075GABRB3c.602C>A (p.Thr201Asn)
n.645C>A
c.285C>A
c.347C>A (p.Thr116Asn)
c.503C>A (p.Thr168Asn)
c.389C>A (p.Thr130Asn)
c.770C>A (p.Thr257Asn)
c.*63C>A (n.*63C>A)
n.514C>A
c.*434C>A (n.*434C>A)
n.273C>A
c.425C>A (p.Thr142Asn)
 dbSNP gnomAD v4
15g.26580400T>ACA391464079GABRB3c.601A>T (p.Thr201Ser)
n.644A>T
c.284A>T
c.346A>T (p.Thr116Ser)
c.502A>T (p.Thr168Ser)
c.388A>T (p.Thr130Ser)
c.769A>T (p.Thr257Ser)
c.*62A>T (n.*62A>T)
n.513A>T
c.*433A>T (n.*433A>T)
n.272A>T
c.424A>T (p.Thr142Ser)
15g.26580400T>CCA391464078GABRB3c.601A>G (p.Thr201Ala)
n.644A>G
c.284A>G
c.346A>G (p.Thr116Ala)
c.502A>G (p.Thr168Ala)
c.388A>G (p.Thr130Ala)
c.769A>G (p.Thr257Ala)
c.*62A>G (n.*62A>G)
n.513A>G
c.*433A>G (n.*433A>G)
n.272A>G
c.424A>G (p.Thr142Ala)
 dbSNP gnomAD v2 gnomAD v4
15g.26580400T>GCA391464080GABRB3c.601A>C (p.Thr201Pro)
n.644A>C
c.284A>C
c.346A>C (p.Thr116Pro)
c.502A>C (p.Thr168Pro)
c.388A>C (p.Thr130Pro)
c.769A>C (p.Thr257Pro)
c.*62A>C (n.*62A>C)
n.513A>C
c.*433A>C (n.*433A>C)
n.272A>C
c.424A>C (p.Thr142Pro)
15g.26580400T=CA2165760528GABRB3c.601A= (p.Thr201=)
n.644A=
c.284A=
c.346A= (p.Thr116=)
c.502A= (p.Thr168=)
c.388A= (p.Thr130=)
c.769A= (p.Thr257=)
c.*62A= (n.*62A=)
n.513A=
c.*433A= (n.*433A=)
n.272A=
c.424A= (p.Thr142=)
15g.26580401A=CA2165760529GABRB3c.600T= (p.Val200=)
n.643T=
c.283T=
c.345T= (p.Val115=)
c.501T= (p.Val167=)
c.387T= (p.Val129=)
c.768T= (p.Val256=)
c.*61T= (n.*61T=)
n.512T=
c.*432T= (n.*432T=)
n.271T=
c.423T= (p.Val141=)
15g.26580401A>CCA489071751GABRB3c.600T>G (p.Val200=)
n.643T>G
c.283T>G
c.345T>G (p.Val115=)
c.501T>G (p.Val167=)
c.387T>G (p.Val129=)
c.768T>G (p.Val256=)
c.*61T>G (n.*61T>G)
n.512T>G
c.*432T>G (n.*432T>G)
n.271T>G
c.423T>G (p.Val141=)
15g.26580401A>GCA489071749GABRB3c.600T>C (p.Val200=)
n.643T>C
c.283T>C
c.345T>C (p.Val115=)
c.501T>C (p.Val167=)
c.387T>C (p.Val129=)
c.768T>C (p.Val256=)
c.*61T>C (n.*61T>C)
n.512T>C
c.*432T>C (n.*432T>C)
n.271T>C
c.423T>C (p.Val141=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
15g.26580401A>TCA489071750GABRB3c.600T>A (p.Val200=)
n.643T>A
c.283T>A
c.345T>A (p.Val115=)
c.501T>A (p.Val167=)
c.387T>A (p.Val129=)
c.768T>A (p.Val256=)
c.*61T>A (n.*61T>A)
n.512T>A
c.*432T>A (n.*432T>A)
n.271T>A
c.423T>A (p.Val141=)
15g.26580402A>CCA391464081GABRB3c.599T>G (p.Val200Gly)
n.642T>G
c.282T>G
c.344T>G (p.Val115Gly)
c.500T>G (p.Val167Gly)
c.386T>G (p.Val129Gly)
c.767T>G (p.Val256Gly)
c.*60T>G (n.*60T>G)
n.511T>G
c.*431T>G (n.*431T>G)
n.270T>G
c.422T>G (p.Val141Gly)
15g.26580402A>GCA391464083GABRB3c.599T>C (p.Val200Ala)
n.642T>C
c.282T>C
c.344T>C (p.Val115Ala)
c.500T>C (p.Val167Ala)
c.386T>C (p.Val129Ala)
c.767T>C (p.Val256Ala)
c.*60T>C (n.*60T>C)
n.511T>C
c.*431T>C (n.*431T>C)
n.270T>C
c.422T>C (p.Val141Ala)
 gnomAD v4 COSMIC COSMIC COSMIC
15g.26580402A>TCA391464082GABRB3c.599T>A (p.Val200Asp)
n.642T>A
c.282T>A
c.344T>A (p.Val115Asp)
c.500T>A (p.Val167Asp)
c.386T>A (p.Val129Asp)
c.767T>A (p.Val256Asp)
c.*60T>A (n.*60T>A)
n.511T>A
c.*431T>A (n.*431T>A)
n.270T>A
c.422T>A (p.Val141Asp)
15g.26580403C>ACA391464084GABRB3c.598G>T (p.Val200Phe)
n.641G>T
c.281G>T
c.343G>T (p.Val115Phe)
c.499G>T (p.Val167Phe)
c.385G>T (p.Val129Phe)
c.766G>T (p.Val256Phe)
c.*59G>T (n.*59G>T)
n.510G>T
c.*430G>T (n.*430G>T)
n.269G>T
c.421G>T (p.Val141Phe)
 dbSNP
15g.26580403C=CA2165760530GABRB3c.598G= (p.Val200=)
n.641G=
c.281G=
c.343G= (p.Val115=)
c.499G= (p.Val167=)
c.385G= (p.Val129=)
c.766G= (p.Val256=)
c.*59G= (n.*59G=)
n.510G=
c.*430G= (n.*430G=)
n.269G=
c.421G= (p.Val141=)
15g.26580403C>GCA391464085GABRB3c.598G>C (p.Val200Leu)
n.641G>C
c.281G>C
c.343G>C (p.Val115Leu)
c.499G>C (p.Val167Leu)
c.385G>C (p.Val129Leu)
c.766G>C (p.Val256Leu)
c.*59G>C (n.*59G>C)
n.510G>C
c.*430G>C (n.*430G>C)
n.269G>C
c.421G>C (p.Val141Leu)
15g.26580403C>TCA7437402GABRB3c.598G>A (p.Val200Ile)
n.641G>A
c.281G>A
c.343G>A (p.Val115Ile)
c.499G>A (p.Val167Ile)
c.385G>A (p.Val129Ile)
c.766G>A (p.Val256Ile)
c.*59G>A (n.*59G>A)
n.510G>A
c.*430G>A (n.*430G>A)
n.269G>A
c.421G>A (p.Val141Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.26580404A=CA2165760531GABRB3c.597T= (p.Ala199=)
n.640T=
c.280T=
c.342T= (p.Ala114=)
c.498T= (p.Ala166=)
c.384T= (p.Ala128=)
c.765T= (p.Ala255=)
c.*58T= (n.*58T=)
n.509T=
c.*429T= (n.*429T=)
n.268T=
c.420T= (p.Ala140=)
15g.26580404A>CCA489071752GABRB3c.597T>G (p.Ala199=)
n.640T>G
c.280T>G
c.342T>G (p.Ala114=)
c.498T>G (p.Ala166=)
c.384T>G (p.Ala128=)
c.765T>G (p.Ala255=)
c.*58T>G (n.*58T>G)
n.509T>G
c.*429T>G (n.*429T>G)
n.268T>G
c.420T>G (p.Ala140=)
15g.26580404A>GCA489071753GABRB3c.597T>C (p.Ala199=)
n.640T>C
c.280T>C
c.342T>C (p.Ala114=)
c.498T>C (p.Ala166=)
c.384T>C (p.Ala128=)
c.765T>C (p.Ala255=)
c.*58T>C (n.*58T>C)
n.509T>C
c.*429T>C (n.*429T>C)
n.268T>C
c.420T>C (p.Ala140=)
 dbSNP gnomAD v2 gnomAD v4
15g.26580404A>TCA489071754GABRB3c.597T>A (p.Ala199=)
n.640T>A
c.280T>A
c.342T>A (p.Ala114=)
c.498T>A (p.Ala166=)
c.384T>A (p.Ala128=)
c.765T>A (p.Ala255=)
c.*58T>A (n.*58T>A)
n.509T>A
c.*429T>A (n.*429T>A)
n.268T>A
c.420T>A (p.Ala140=)
15g.26580405G>ACA391464086GABRB3c.596C>T (p.Ala199Val)
n.639C>T
c.279C>T
c.341C>T (p.Ala114Val)
c.497C>T (p.Ala166Val)
c.383C>T (p.Ala128Val)
c.764C>T (p.Ala255Val)
c.*57C>T (n.*57C>T)
n.508C>T
c.*428C>T (n.*428C>T)
n.267C>T
c.419C>T (p.Ala140Val)
 dbSNP COSMIC COSMIC COSMIC
15g.26580405G>CCA391464087GABRB3c.596C>G (p.Ala199Gly)
n.639C>G
c.279C>G
c.341C>G (p.Ala114Gly)
c.497C>G (p.Ala166Gly)
c.383C>G (p.Ala128Gly)
c.764C>G (p.Ala255Gly)
c.*57C>G (n.*57C>G)
n.508C>G
c.*428C>G (n.*428C>G)
n.267C>G
c.419C>G (p.Ala140Gly)
15g.26580405G=CA2165760532GABRB3c.596C= (p.Ala199=)
n.639C=
c.279C=
c.341C= (p.Ala114=)
c.497C= (p.Ala166=)
c.383C= (p.Ala128=)
c.764C= (p.Ala255=)
c.*57C= (n.*57C=)
n.508C=
c.*428C= (n.*428C=)
n.267C=
c.419C= (p.Ala140=)
15g.26580405G>TCA391464088GABRB3c.596C>A (p.Ala199Asp)
n.639C>A
c.279C>A
c.341C>A (p.Ala114Asp)
c.497C>A (p.Ala166Asp)
c.383C>A (p.Ala128Asp)
c.764C>A (p.Ala255Asp)
c.*57C>A (n.*57C>A)
n.508C>A
c.*428C>A (n.*428C>A)
n.267C>A
c.419C>A (p.Ala140Asp)
15g.26580406C>ACA391464091GABRB3c.595G>T (p.Ala199Ser)
n.638G>T
c.278G>T
c.340G>T (p.Ala114Ser)
c.496G>T (p.Ala166Ser)
c.382G>T (p.Ala128Ser)
c.763G>T (p.Ala255Ser)
c.*56G>T (n.*56G>T)
n.507G>T
c.*427G>T (n.*427G>T)
n.266G>T
c.418G>T (p.Ala140Ser)
15g.26580406C>GCA391464089GABRB3c.595G>C (p.Ala199Pro)
n.638G>C
c.278G>C
c.340G>C (p.Ala114Pro)
c.496G>C (p.Ala166Pro)
c.382G>C (p.Ala128Pro)
c.763G>C (p.Ala255Pro)
c.*56G>C (n.*56G>C)
n.507G>C
c.*427G>C (n.*427G>C)
n.266G>C
c.418G>C (p.Ala140Pro)
15g.26580406C>TCA391464090GABRB3c.595G>A (p.Ala199Thr)
n.638G>A
c.278G>A
c.340G>A (p.Ala114Thr)
c.496G>A (p.Ala166Thr)
c.382G>A (p.Ala128Thr)
c.763G>A (p.Ala255Thr)
c.*56G>A (n.*56G>A)
n.507G>A
c.*427G>A (n.*427G>A)
n.266G>A
c.418G>A (p.Ala140Thr)
15g.26580407C>ACA391464092GABRB3c.594G>T (p.Lys198Asn)
n.637G>T
c.277G>T
c.339G>T (p.Lys113Asn)
c.495G>T (p.Lys165Asn)
c.381G>T (p.Lys127Asn)
c.762G>T (p.Lys254Asn)
c.*55G>T (n.*55G>T)
n.506G>T
c.*426G>T (n.*426G>T)
n.265G>T
c.417G>T (p.Lys139Asn)
 dbSNP
15g.26580407C=CA2165760533GABRB3c.594G= (p.Lys198=)
n.637G=
c.277G=
c.339G= (p.Lys113=)
c.495G= (p.Lys165=)
c.381G= (p.Lys127=)
c.762G= (p.Lys254=)
c.*55G= (n.*55G=)
n.506G=
c.*426G= (n.*426G=)
n.265G=
c.417G= (p.Lys139=)
15g.26580407C>GCA391464093GABRB3c.594G>C (p.Lys198Asn)
n.637G>C
c.277G>C
c.339G>C (p.Lys113Asn)
c.495G>C (p.Lys165Asn)
c.381G>C (p.Lys127Asn)
c.762G>C (p.Lys254Asn)
c.*55G>C (n.*55G>C)
n.506G>C
c.*426G>C (n.*426G>C)
n.265G>C
c.417G>C (p.Lys139Asn)
15g.26580407C>TCA489071755GABRB3c.594G>A (p.Lys198=)
n.637G>A
c.277G>A
c.339G>A (p.Lys113=)
c.495G>A (p.Lys165=)
c.381G>A (p.Lys127=)
c.762G>A (p.Lys254=)
c.*55G>A (n.*55G>A)
n.506G>A
c.*426G>A (n.*426G>A)
n.265G>A
c.417G>A (p.Lys139=)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC
15g.26580408T>ACA391464095GABRB3c.593A>T (p.Lys198Met)
n.636A>T
c.276A>T
c.338A>T (p.Lys113Met)
c.494A>T (p.Lys165Met)
c.380A>T (p.Lys127Met)
c.761A>T (p.Lys254Met)
c.*54A>T (n.*54A>T)
n.505A>T
c.*425A>T (n.*425A>T)
n.264A>T
c.416A>T (p.Lys139Met)
15g.26580408T>CCA391464096GABRB3c.593A>G (p.Lys198Arg)
n.636A>G
c.276A>G
c.338A>G (p.Lys113Arg)
c.494A>G (p.Lys165Arg)
c.380A>G (p.Lys127Arg)
c.761A>G (p.Lys254Arg)
c.*54A>G (n.*54A>G)
n.505A>G
c.*425A>G (n.*425A>G)
n.264A>G
c.416A>G (p.Lys139Arg)
15g.26580408T>GCA391464097GABRB3c.593A>C (p.Lys198Thr)
n.636A>C
c.276A>C
c.338A>C (p.Lys113Thr)
c.494A>C (p.Lys165Thr)
c.380A>C (p.Lys127Thr)
c.761A>C (p.Lys254Thr)
c.*54A>C (n.*54A>C)
n.505A>C
c.*425A>C (n.*425A>C)
n.264A>C
c.416A>C (p.Lys139Thr)
 ClinVar
15g.26580409T>ACA391464098GABRB3c.592A>T (p.Lys198Ter)
n.635A>T
c.275A>T
c.337A>T (p.Lys113Ter)
c.493A>T (p.Lys165Ter)
c.379A>T (p.Lys127Ter)
c.760A>T (p.Lys254Ter)
c.*53A>T (n.*53A>T)
n.504A>T
c.*424A>T (n.*424A>T)
n.263A>T
c.415A>T (p.Lys139Ter)
 COSMIC COSMIC COSMIC
15g.26580409T>CCA391464100GABRB3c.592A>G (p.Lys198Glu)
n.635A>G
c.275A>G
c.337A>G (p.Lys113Glu)
c.493A>G (p.Lys165Glu)
c.379A>G (p.Lys127Glu)
c.760A>G (p.Lys254Glu)
c.*53A>G (n.*53A>G)
n.504A>G
c.*424A>G (n.*424A>G)
n.263A>G
c.415A>G (p.Lys139Glu)
 gnomAD v4
15g.26580409T>GCA391464099GABRB3c.592A>C (p.Lys198Gln)
n.635A>C
c.275A>C
c.337A>C (p.Lys113Gln)
c.493A>C (p.Lys165Gln)
c.379A>C (p.Lys127Gln)
c.760A>C (p.Lys254Gln)
c.*53A>C (n.*53A>C)
n.504A>C
c.*424A>C (n.*424A>C)
n.263A>C
c.415A>C (p.Lys139Gln)
15g.26580410G>ACA489071756GABRB3c.591C>T (p.Asp197=)
n.634C>T
c.274C>T
c.336C>T (p.Asp112=)
c.492C>T (p.Asp164=)
c.378C>T (p.Asp126=)
c.759C>T (p.Asp253=)
c.*52C>T (n.*52C>T)
n.503C>T
c.*423C>T (n.*423C>T)
n.262C>T
c.414C>T (p.Asp138=)
15g.26580410G>CCA391464101GABRB3c.591C>G (p.Asp197Glu)
n.634C>G
c.274C>G
c.336C>G (p.Asp112Glu)
c.492C>G (p.Asp164Glu)
c.378C>G (p.Asp126Glu)
c.759C>G (p.Asp253Glu)
c.*52C>G (n.*52C>G)
n.503C>G
c.*423C>G (n.*423C>G)
n.262C>G
c.414C>G (p.Asp138Glu)
15g.26580410G>TCA391464102GABRB3c.591C>A (p.Asp197Glu)
n.634C>A
c.274C>A
c.336C>A (p.Asp112Glu)
c.492C>A (p.Asp164Glu)
c.378C>A (p.Asp126Glu)
c.759C>A (p.Asp253Glu)
c.*52C>A (n.*52C>A)
n.503C>A
c.*423C>A (n.*423C>A)
n.262C>A
c.414C>A (p.Asp138Glu)
15g.26580411T>ACA391464103GABRB3c.590A>T (p.Asp197Val)
n.633A>T
c.273A>T
c.335A>T (p.Asp112Val)
c.491A>T (p.Asp164Val)
c.377A>T (p.Asp126Val)
c.758A>T (p.Asp253Val)
c.*51A>T (n.*51A>T)
n.502A>T
c.*422A>T (n.*422A>T)
n.261A>T
c.413A>T (p.Asp138Val)
15g.26580411T>CCA391464105GABRB3c.590A>G (p.Asp197Gly)
n.633A>G
c.273A>G
c.335A>G (p.Asp112Gly)
c.491A>G (p.Asp164Gly)
c.377A>G (p.Asp126Gly)
c.758A>G (p.Asp253Gly)
c.*51A>G (n.*51A>G)
n.502A>G
c.*422A>G (n.*422A>G)
n.261A>G
c.413A>G (p.Asp138Gly)
 dbSNP
15g.26580411T>GCA391464106GABRB3c.590A>C (p.Asp197Ala)
n.633A>C
c.273A>C
c.335A>C (p.Asp112Ala)
c.491A>C (p.Asp164Ala)
c.377A>C (p.Asp126Ala)
c.758A>C (p.Asp253Ala)
c.*51A>C (n.*51A>C)
n.502A>C
c.*422A>C (n.*422A>C)
n.261A>C
c.413A>C (p.Asp138Ala)
15g.26580411T=CA2165760534GABRB3c.590A= (p.Asp197=)
n.633A=
c.273A=
c.335A= (p.Asp112=)
c.491A= (p.Asp164=)
c.377A= (p.Asp126=)
c.758A= (p.Asp253=)
c.*51A= (n.*51A=)
n.502A=
c.*422A= (n.*422A=)
n.261A=
c.413A= (p.Asp138=)
15g.26580412C>ACA391464107GABRB3c.589G>T (p.Asp197Tyr)
n.632G>T
c.272G>T
c.334G>T (p.Asp112Tyr)
c.490G>T (p.Asp164Tyr)
c.376G>T (p.Asp126Tyr)
c.757G>T (p.Asp253Tyr)
c.*50G>T (n.*50G>T)
n.501G>T
c.*421G>T (n.*421G>T)
n.260G>T
c.412G>T (p.Asp138Tyr)
 ClinVar
15g.26580412C=CA2165760535GABRB3c.589G= (p.Asp197=)
n.632G=
c.272G=
c.334G= (p.Asp112=)
c.490G= (p.Asp164=)
c.376G= (p.Asp126=)
c.757G= (p.Asp253=)
c.*50G= (n.*50G=)
n.501G=
c.*421G= (n.*421G=)
n.260G=
c.412G= (p.Asp138=)
15g.26580412C>GCA391464108GABRB3c.589G>C (p.Asp197His)
n.632G>C
c.272G>C
c.334G>C (p.Asp112His)
c.490G>C (p.Asp164His)
c.376G>C (p.Asp126His)
c.757G>C (p.Asp253His)
c.*50G>C (n.*50G>C)
n.501G>C
c.*421G>C (n.*421G>C)
n.260G>C
c.412G>C (p.Asp138His)
15g.26580412C>TCA7437403GABRB3c.589G>A (p.Asp197Asn)
n.632G>A
c.272G>A
c.334G>A (p.Asp112Asn)
c.490G>A (p.Asp164Asn)
c.376G>A (p.Asp126Asn)
c.757G>A (p.Asp253Asn)
c.*50G>A (n.*50G>A)
n.501G>A
c.*421G>A (n.*421G>A)
n.260G>A
c.412G>A (p.Asp138Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.26580413C>ACA489071757GABRB3c.588G>T (p.Gly196=)
n.631G>T
c.271G>T
c.333G>T (p.Gly111=)
c.489G>T (p.Gly163=)
c.375G>T (p.Gly125=)
c.756G>T (p.Gly252=)
c.*49G>T (n.*49G>T)
n.500G>T
c.*420G>T (n.*420G>T)
n.259G>T
c.411G>T (p.Gly137=)
15g.26580413C=CA2165760536GABRB3c.588G= (p.Gly196=)
n.631G=
c.271G=
c.333G= (p.Gly111=)
c.489G= (p.Gly163=)
c.375G= (p.Gly125=)
c.756G= (p.Gly252=)
c.*49G= (n.*49G=)
n.500G=
c.*420G= (n.*420G=)
n.259G=
c.411G= (p.Gly137=)
15g.26580413C>GCA489071758GABRB3c.588G>C (p.Gly196=)
n.631G>C
c.271G>C
c.333G>C (p.Gly111=)
c.489G>C (p.Gly163=)
c.375G>C (p.Gly125=)
c.756G>C (p.Gly252=)
c.*49G>C (n.*49G>C)
n.500G>C
c.*420G>C (n.*420G>C)
n.259G>C
c.411G>C (p.Gly137=)
15g.26580413C>TCA489071759GABRB3c.588G>A (p.Gly196=)
n.631G>A
c.271G>A
c.333G>A (p.Gly111=)
c.489G>A (p.Gly163=)
c.375G>A (p.Gly125=)
c.756G>A (p.Gly252=)
c.*49G>A (n.*49G>A)
n.500G>A
c.*420G>A (n.*420G>A)
n.259G>A
c.411G>A (p.Gly137=)
 dbSNP gnomAD v2 gnomAD v4
15g.26580414C>ACA391464109GABRB3c.587G>T (p.Gly196Val)
n.630G>T
c.270G>T
c.332G>T (p.Gly111Val)
c.488G>T (p.Gly163Val)
c.374G>T (p.Gly125Val)
c.755G>T (p.Gly252Val)
c.*48G>T (n.*48G>T)
n.499G>T
c.*419G>T (n.*419G>T)
n.258G>T
c.410G>T (p.Gly137Val)
15g.26580414C=CA2165760537GABRB3c.587G= (p.Gly196=)
n.630G=
c.270G=
c.332G= (p.Gly111=)
c.488G= (p.Gly163=)
c.374G= (p.Gly125=)
c.755G= (p.Gly252=)
c.*48G= (n.*48G=)
n.499G=
c.*419G= (n.*419G=)
n.258G=
c.410G= (p.Gly137=)
15g.26580414C>GCA391464110GABRB3c.587G>C (p.Gly196Ala)
n.630G>C
c.270G>C
c.332G>C (p.Gly111Ala)
c.488G>C (p.Gly163Ala)
c.374G>C (p.Gly125Ala)
c.755G>C (p.Gly252Ala)
c.*48G>C (n.*48G>C)
n.499G>C
c.*419G>C (n.*419G>C)
n.258G>C
c.410G>C (p.Gly137Ala)
15g.26580414C>TCA391464111GABRB3c.587G>A (p.Gly196Glu)
n.630G>A
c.270G>A
c.332G>A (p.Gly111Glu)
c.488G>A (p.Gly163Glu)
c.374G>A (p.Gly125Glu)
c.755G>A (p.Gly252Glu)
c.*48G>A (n.*48G>A)
n.499G>A
c.*419G>A (n.*419G>A)
n.258G>A
c.410G>A (p.Gly137Glu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.26580415C>ACA391464113GABRB3c.586G>T (p.Gly196Trp)
n.629G>T
c.269G>T
c.331G>T (p.Gly111Trp)
c.487G>T (p.Gly163Trp)
c.373G>T (p.Gly125Trp)
c.754G>T (p.Gly252Trp)
c.*47G>T (n.*47G>T)
n.498G>T
c.*418G>T (n.*418G>T)
n.257G>T
c.409G>T (p.Gly137Trp)
15g.26580415C=CA2165760538GABRB3c.586G= (p.Gly196=)
n.629G=
c.269G=
c.331G= (p.Gly111=)
c.487G= (p.Gly163=)
c.373G= (p.Gly125=)
c.754G= (p.Gly252=)
c.*47G= (n.*47G=)
n.498G=
c.*418G= (n.*418G=)
n.257G=
c.409G= (p.Gly137=)
15g.26580415C>GCA391464118GABRB3c.586G>C (p.Gly196Arg)
n.629G>C
c.269G>C
c.331G>C (p.Gly111Arg)
c.487G>C (p.Gly163Arg)
c.373G>C (p.Gly125Arg)
c.754G>C (p.Gly252Arg)
c.*47G>C (n.*47G>C)
n.498G>C
c.*418G>C (n.*418G>C)
n.257G>C
c.409G>C (p.Gly137Arg)
15g.26580415C>TCA391464116GABRB3c.586G>A (p.Gly196Arg)
n.629G>A
c.269G>A
c.331G>A (p.Gly111Arg)
c.487G>A (p.Gly163Arg)
c.373G>A (p.Gly125Arg)
c.754G>A (p.Gly252Arg)
c.*47G>A (n.*47G>A)
n.498G>A
c.*418G>A (n.*418G>A)
n.257G>A
c.409G>A (p.Gly137Arg)
 dbSNP gnomAD v4 COSMIC COSMIC COSMIC
15g.26580416G>ACA7437404GABRB3c.585C>T (p.Gly195=)
n.628C>T
c.268C>T
c.330C>T (p.Gly110=)
c.486C>T (p.Gly162=)
c.372C>T (p.Gly124=)
c.753C>T (p.Gly251=)
c.*46C>T (n.*46C>T)
n.497C>T
c.*417C>T (n.*417C>T)
n.256C>T
c.408C>T (p.Gly136=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.26580416G>CCA489071760GABRB3c.585C>G (p.Gly195=)
n.628C>G
c.268C>G
c.330C>G (p.Gly110=)
c.486C>G (p.Gly162=)
c.372C>G (p.Gly124=)
c.753C>G (p.Gly251=)
c.*46C>G (n.*46C>G)
n.497C>G
c.*417C>G (n.*417C>G)
n.256C>G
c.408C>G (p.Gly136=)
 dbSNP
15g.26580416G=CA2165760539GABRB3c.585C= (p.Gly195=)
n.628C=
c.268C=
c.330C= (p.Gly110=)
c.486C= (p.Gly162=)
c.372C= (p.Gly124=)
c.753C= (p.Gly251=)
c.*46C= (n.*46C=)
n.497C=
c.*417C= (n.*417C=)
n.256C=
c.408C= (p.Gly136=)
15g.26580416G>TCA489071761GABRB3c.585C>A (p.Gly195=)
n.628C>A
c.268C>A
c.330C>A (p.Gly110=)
c.486C>A (p.Gly162=)
c.372C>A (p.Gly124=)
c.753C>A (p.Gly251=)
c.*46C>A (n.*46C>A)
n.497C>A
c.*417C>A (n.*417C>A)
n.256C>A
c.408C>A (p.Gly136=)
15g.26580417C>ACA391464119GABRB3c.584G>T (p.Gly195Val)
n.627G>T
c.267G>T
c.329G>T (p.Gly110Val)
c.485G>T (p.Gly162Val)
c.371G>T (p.Gly124Val)
c.752G>T (p.Gly251Val)
c.*45G>T (n.*45G>T)
n.496G>T
c.*416G>T (n.*416G>T)
n.255G>T
c.407G>T (p.Gly136Val)
15g.26580417C=CA2165760540GABRB3c.584G= (p.Gly195=)
n.627G=
c.267G=
c.329G= (p.Gly110=)
c.485G= (p.Gly162=)
c.371G= (p.Gly124=)
c.752G= (p.Gly251=)
c.*45G= (n.*45G=)
n.496G=
c.*416G= (n.*416G=)
n.255G=
c.407G= (p.Gly136=)
15g.26580417C>GCA391464120GABRB3c.584G>C (p.Gly195Ala)
n.627G>C
c.267G>C
c.329G>C (p.Gly110Ala)
c.485G>C (p.Gly162Ala)
c.371G>C (p.Gly124Ala)
c.752G>C (p.Gly251Ala)
c.*45G>C (n.*45G>C)
n.496G>C
c.*416G>C (n.*416G>C)
n.255G>C
c.407G>C (p.Gly136Ala)
15g.26580417C>TCA391464125GABRB3c.584G>A (p.Gly195Asp)
n.627G>A
c.267G>A
c.329G>A (p.Gly110Asp)
c.485G>A (p.Gly162Asp)
c.371G>A (p.Gly124Asp)
c.752G>A (p.Gly251Asp)
c.*45G>A (n.*45G>A)
n.496G>A
c.*416G>A (n.*416G>A)
n.255G>A
c.407G>A (p.Gly136Asp)
 dbSNP gnomAD v3 gnomAD v4
15g.26580418C>ACA391464126GABRB3c.583G>T (p.Gly195Cys)
n.626G>T
c.266G>T
c.328G>T (p.Gly110Cys)
c.484G>T (p.Gly162Cys)
c.370G>T (p.Gly124Cys)
c.751G>T (p.Gly251Cys)
c.*44G>T (n.*44G>T)
n.495G>T
c.*415G>T (n.*415G>T)
n.254G>T
c.406G>T (p.Gly136Cys)
15g.26580418C>GCA391464128GABRB3c.583G>C (p.Gly195Arg)
n.626G>C
c.266G>C
c.328G>C (p.Gly110Arg)
c.484G>C (p.Gly162Arg)
c.370G>C (p.Gly124Arg)
c.751G>C (p.Gly251Arg)
c.*44G>C (n.*44G>C)
n.495G>C
c.*415G>C (n.*415G>C)
n.254G>C
c.406G>C (p.Gly136Arg)
15g.26580418C>TCA391464129GABRB3c.583G>A (p.Gly195Ser)
n.626G>A
c.266G>A
c.328G>A (p.Gly110Ser)
c.484G>A (p.Gly162Ser)
c.370G>A (p.Gly124Ser)
c.751G>A (p.Gly251Ser)
c.*44G>A (n.*44G>A)
n.495G>A
c.*415G>A (n.*415G>A)
n.254G>A
c.406G>A (p.Gly136Ser)
15g.26580419T>ACA489071762GABRB3c.582A>T (p.Arg194=)
n.625A>T
c.265A>T
c.327A>T (p.Arg109=)
c.483A>T (p.Arg161=)
c.369A>T (p.Arg123=)
c.750A>T (p.Arg250=)
c.*43A>T (n.*43A>T)
n.494A>T
c.*414A>T (n.*414A>T)
n.253A>T
c.405A>T (p.Arg135=)
 COSMIC COSMIC COSMIC
15g.26580419T>CCA489071763GABRB3c.582A>G (p.Arg194=)
n.625A>G
c.265A>G
c.327A>G (p.Arg109=)
c.483A>G (p.Arg161=)
c.369A>G (p.Arg123=)
c.750A>G (p.Arg250=)
c.*43A>G (n.*43A>G)
n.494A>G
c.*414A>G (n.*414A>G)
n.253A>G
c.405A>G (p.Arg135=)
 gnomAD v4
15g.26580419T>GCA489071764GABRB3c.582A>C (p.Arg194=)
n.625A>C
c.265A>C
c.327A>C (p.Arg109=)
c.483A>C (p.Arg161=)
c.369A>C (p.Arg123=)
c.750A>C (p.Arg250=)
c.*43A>C (n.*43A>C)
n.494A>C
c.*414A>C (n.*414A>C)
n.253A>C
c.405A>C (p.Arg135=)
15g.26580420C>ACA391464131GABRB3c.581G>T (p.Arg194Leu)
n.624G>T
c.264G>T
c.326G>T (p.Arg109Leu)
c.482G>T (p.Arg161Leu)
c.368G>T (p.Arg123Leu)
c.749G>T (p.Arg250Leu)
c.*42G>T (n.*42G>T)
n.493G>T
c.*413G>T (n.*413G>T)
n.252G>T
c.404G>T (p.Arg135Leu)
15g.26580420C=CA2165760541GABRB3c.581G= (p.Arg194=)
n.624G=
c.264G=
c.326G= (p.Arg109=)
c.482G= (p.Arg161=)
c.368G= (p.Arg123=)
c.749G= (p.Arg250=)
c.*42G= (n.*42G=)
n.493G=
c.*413G= (n.*413G=)
n.252G=
c.404G= (p.Arg135=)
15g.26580420C>GCA391464132GABRB3c.581G>C (p.Arg194Pro)
n.624G>C
c.264G>C
c.326G>C (p.Arg109Pro)
c.482G>C (p.Arg161Pro)
c.368G>C (p.Arg123Pro)
c.749G>C (p.Arg250Pro)
c.*42G>C (n.*42G>C)
n.493G>C
c.*413G>C (n.*413G>C)
n.252G>C
c.404G>C (p.Arg135Pro)
 dbSNP gnomAD v3 gnomAD v4
15g.26580420C>TCA268156810GABRB3c.581G>A (p.Arg194Gln)
n.624G>A
c.264G>A
c.326G>A (p.Arg109Gln)
c.482G>A (p.Arg161Gln)
c.368G>A (p.Arg123Gln)
c.749G>A (p.Arg250Gln)
c.*42G>A (n.*42G>A)
n.493G>A
c.*413G>A (n.*413G>A)
n.252G>A
c.404G>A (p.Arg135Gln)
 ClinVar dbSNP gnomAD v4
15g.26580421G>ACA391464135GABRB3c.580C>T (p.Arg194Ter)
n.623C>T
c.263C>T
c.325C>T (p.Arg109Ter)
c.481C>T (p.Arg161Ter)
c.367C>T (p.Arg123Ter)
c.748C>T (p.Arg250Ter)
c.*41C>T (n.*41C>T)
n.492C>T
c.*412C>T (n.*412C>T)
n.251C>T
c.403C>T (p.Arg135Ter)
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC
15g.26580421G>CCA391464136GABRB3c.580C>G (p.Arg194Gly)
n.623C>G
c.263C>G
c.325C>G (p.Arg109Gly)
c.481C>G (p.Arg161Gly)
c.367C>G (p.Arg123Gly)
c.748C>G (p.Arg250Gly)
c.*41C>G (n.*41C>G)
n.492C>G
c.*412C>G (n.*412C>G)
n.251C>G
c.403C>G (p.Arg135Gly)
15g.26580421G=CA2165760542GABRB3c.580C= (p.Arg194=)
n.623C=
c.263C=
c.325C= (p.Arg109=)
c.481C= (p.Arg161=)
c.367C= (p.Arg123=)
c.748C= (p.Arg250=)
c.*41C= (n.*41C=)
n.492C=
c.*412C= (n.*412C=)
n.251C=
c.403C= (p.Arg135=)
15g.26580421G>TCA489071765GABRB3c.580C>A (p.Arg194=)
n.623C>A
c.263C>A
c.325C>A (p.Arg109=)
c.481C>A (p.Arg161=)
c.367C>A (p.Arg123=)
c.748C>A (p.Arg250=)
c.*41C>A (n.*41C>A)
n.492C>A
c.*412C>A (n.*412C>A)
n.251C>A
c.403C>A (p.Arg135=)
 gnomAD v4
15g.26580422C>ACA391464139GABRB3c.579G>T (p.Trp193Cys)
n.622G>T
c.262G>T
c.324G>T (p.Trp108Cys)
c.480G>T (p.Trp160Cys)
c.366G>T (p.Trp122Cys)
c.747G>T (p.Trp249Cys)
c.*40G>T (n.*40G>T)
n.491G>T
c.*411G>T (n.*411G>T)
n.250G>T
c.402G>T (p.Trp134Cys)
15g.26580422C>GCA391464137GABRB3c.579G>C (p.Trp193Cys)
n.622G>C
c.262G>C
c.324G>C (p.Trp108Cys)
c.480G>C (p.Trp160Cys)
c.366G>C (p.Trp122Cys)
c.747G>C (p.Trp249Cys)
c.*40G>C (n.*40G>C)
n.491G>C
c.*411G>C (n.*411G>C)
n.250G>C
c.402G>C (p.Trp134Cys)
15g.26580422C>TCA391464138GABRB3c.579G>A (p.Trp193Ter)
n.622G>A
c.262G>A
c.324G>A (p.Trp108Ter)
c.480G>A (p.Trp160Ter)
c.366G>A (p.Trp122Ter)
c.747G>A (p.Trp249Ter)
c.*40G>A (n.*40G>A)
n.491G>A
c.*411G>A (n.*411G>A)
n.250G>A
c.402G>A (p.Trp134Ter)
15g.26580423C>ACA391464140GABRB3c.578G>T (p.Trp193Leu)
n.621G>T
c.261G>T
c.323G>T (p.Trp108Leu)
c.479G>T (p.Trp160Leu)
c.365G>T (p.Trp122Leu)
c.746G>T (p.Trp249Leu)
c.*39G>T (n.*39G>T)
n.490G>T
c.*410G>T (n.*410G>T)
n.249G>T
c.401G>T (p.Trp134Leu)
15g.26580423C>GCA391464141GABRB3c.578G>C (p.Trp193Ser)
n.621G>C
c.261G>C
c.323G>C (p.Trp108Ser)
c.479G>C (p.Trp160Ser)
c.365G>C (p.Trp122Ser)
c.746G>C (p.Trp249Ser)
c.*39G>C (n.*39G>C)
n.490G>C
c.*410G>C (n.*410G>C)
n.249G>C
c.401G>C (p.Trp134Ser)
15g.26580423C>TCA391464142GABRB3c.578G>A (p.Trp193Ter)
n.621G>A
c.261G>A
c.323G>A (p.Trp108Ter)
c.479G>A (p.Trp160Ter)
c.365G>A (p.Trp122Ter)
c.746G>A (p.Trp249Ter)
c.*39G>A (n.*39G>A)
n.490G>A
c.*410G>A (n.*410G>A)
n.249G>A
c.401G>A (p.Trp134Ter)
 COSMIC COSMIC COSMIC
15g.26580424A>CCA391464143GABRB3c.577T>G (p.Trp193Gly)
n.620T>G
c.260T>G
c.322T>G (p.Trp108Gly)
c.478T>G (p.Trp160Gly)
c.364T>G (p.Trp122Gly)
c.745T>G (p.Trp249Gly)
c.*38T>G (n.*38T>G)
n.489T>G
c.*409T>G (n.*409T>G)
n.248T>G
c.400T>G (p.Trp134Gly)
15g.26580424A>GCA391464144GABRB3c.577T>C (p.Trp193Arg)
n.620T>C
c.260T>C
c.322T>C (p.Trp108Arg)
c.478T>C (p.Trp160Arg)
c.364T>C (p.Trp122Arg)
c.745T>C (p.Trp249Arg)
c.*38T>C (n.*38T>C)
n.489T>C
c.*409T>C (n.*409T>C)
n.248T>C
c.400T>C (p.Trp134Arg)
15g.26580424A>TCA391464145GABRB3c.577T>A (p.Trp193Arg)
n.620T>A
c.260T>A
c.322T>A (p.Trp108Arg)
c.478T>A (p.Trp160Arg)
c.364T>A (p.Trp122Arg)
c.745T>A (p.Trp249Arg)
c.*38T>A (n.*38T>A)
n.489T>A
c.*409T>A (n.*409T>A)
n.248T>A
c.400T>A (p.Trp134Arg)
15g.26580425G>ACA489071766GABRB3c.576C>T (p.Tyr192=)
n.619C>T
c.259C>T
c.321C>T (p.Tyr107=)
c.477C>T (p.Tyr159=)
c.363C>T (p.Tyr121=)
c.744C>T (p.Tyr248=)
c.*37C>T (n.*37C>T)
n.488C>T
c.*408C>T (n.*408C>T)
n.247C>T
c.399C>T (p.Tyr133=)
 dbSNP gnomAD v2 gnomAD v4
15g.26580425G>CCA391464146GABRB3c.576C>G (p.Tyr192Ter)
n.619C>G
c.259C>G
c.321C>G (p.Tyr107Ter)
c.477C>G (p.Tyr159Ter)
c.363C>G (p.Tyr121Ter)
c.744C>G (p.Tyr248Ter)
c.*37C>G (n.*37C>G)
n.488C>G
c.*408C>G (n.*408C>G)
n.247C>G
c.399C>G (p.Tyr133Ter)
15g.26580425G=CA2165760543GABRB3c.576C= (p.Tyr192=)
n.619C=
c.259C=
c.321C= (p.Tyr107=)
c.477C= (p.Tyr159=)
c.363C= (p.Tyr121=)
c.744C= (p.Tyr248=)
c.*37C= (n.*37C=)
n.488C=
c.*408C= (n.*408C=)
n.247C=
c.399C= (p.Tyr133=)
15g.26580425G>TCA391464148GABRB3c.576C>A (p.Tyr192Ter)
n.619C>A
c.259C>A
c.321C>A (p.Tyr107Ter)
c.477C>A (p.Tyr159Ter)
c.363C>A (p.Tyr121Ter)
c.744C>A (p.Tyr248Ter)
c.*37C>A (n.*37C>A)
n.488C>A
c.*408C>A (n.*408C>A)
n.247C>A
c.399C>A (p.Tyr133Ter)
15g.26580426T>ACA391464149GABRB3c.575A>T (p.Tyr192Phe)
n.618A>T
c.258A>T
c.320A>T (p.Tyr107Phe)
c.476A>T (p.Tyr159Phe)
c.362A>T (p.Tyr121Phe)
c.743A>T (p.Tyr248Phe)
c.*36A>T (n.*36A>T)
n.487A>T
c.*407A>T (n.*407A>T)
n.246A>T
c.398A>T (p.Tyr133Phe)
15g.26580426T>CCA391464150GABRB3c.575A>G (p.Tyr192Cys)
n.618A>G
c.258A>G
c.320A>G (p.Tyr107Cys)
c.476A>G (p.Tyr159Cys)
c.362A>G (p.Tyr121Cys)
c.743A>G (p.Tyr248Cys)
c.*36A>G (n.*36A>G)
n.487A>G
c.*407A>G (n.*407A>G)
n.246A>G
c.398A>G (p.Tyr133Cys)
15g.26580426T>GCA391464152GABRB3c.575A>C (p.Tyr192Ser)
n.618A>C
c.258A>C
c.320A>C (p.Tyr107Ser)
c.476A>C (p.Tyr159Ser)
c.362A>C (p.Tyr121Ser)
c.743A>C (p.Tyr248Ser)
c.*36A>C (n.*36A>C)
n.487A>C
c.*407A>C (n.*407A>C)
n.246A>C
c.398A>C (p.Tyr133Ser)
15g.26580427A>CCA391464155GABRB3c.574T>G (p.Tyr192Asp)
n.617T>G
c.257T>G
c.319T>G (p.Tyr107Asp)
c.475T>G (p.Tyr159Asp)
c.361T>G (p.Tyr121Asp)
c.742T>G (p.Tyr248Asp)
c.*35T>G (n.*35T>G)
n.486T>G
c.*406T>G (n.*406T>G)
n.245T>G
c.397T>G (p.Tyr133Asp)
15g.26580427A>GCA391464156GABRB3c.574T>C (p.Tyr192His)
n.617T>C
c.257T>C
c.319T>C (p.Tyr107His)
c.475T>C (p.Tyr159His)
c.361T>C (p.Tyr121His)
c.742T>C (p.Tyr248His)
c.*35T>C (n.*35T>C)
n.486T>C
c.*406T>C (n.*406T>C)
n.245T>C
c.397T>C (p.Tyr133His)
15g.26580427A>TCA391464154GABRB3c.574T>A (p.Tyr192Asn)
n.617T>A
c.257T>A
c.319T>A (p.Tyr107Asn)
c.475T>A (p.Tyr159Asn)
c.361T>A (p.Tyr121Asn)
c.742T>A (p.Tyr248Asn)
c.*35T>A (n.*35T>A)
n.486T>A
c.*406T>A (n.*406T>A)
n.245T>A
c.397T>A (p.Tyr133Asn)
15g.26580430dupCA2575651460GABRB3c.574dup (p.Tyr192LeufsTer16)
n.617dup
c.257dup
c.319dup (p.Tyr107LeufsTer16)
c.475dup (p.Tyr159LeufsTer16)
c.361dup (p.Tyr121LeufsTer16)
c.742dup (p.Tyr248LeufsTer16)
c.*35dup (n.*35dup)
n.486dup
c.*406dup (n.*406dup)
n.245dup
c.397dup (p.Tyr133LeufsTer16)
15g.26580428A>CCA391464159GABRB3c.573T>G (p.Phe191Leu)
n.616T>G
c.256T>G
c.318T>G (p.Phe106Leu)
c.474T>G (p.Phe158Leu)
c.360T>G (p.Phe120Leu)
c.741T>G (p.Phe247Leu)
c.*34T>G (n.*34T>G)
n.485T>G
c.*405T>G (n.*405T>G)
n.244T>G
c.396T>G (p.Phe132Leu)
15g.26580428A>GCA489071767GABRB3c.573T>C (p.Phe191=)
n.616T>C
c.256T>C
c.318T>C (p.Phe106=)
c.474T>C (p.Phe158=)
c.360T>C (p.Phe120=)
c.741T>C (p.Phe247=)
c.*34T>C (n.*34T>C)
n.485T>C
c.*405T>C (n.*405T>C)
n.244T>C
c.396T>C (p.Phe132=)
15g.26580428A>TCA391464158GABRB3c.573T>A (p.Phe191Leu)
n.616T>A
c.256T>A
c.318T>A (p.Phe106Leu)
c.474T>A (p.Phe158Leu)
c.360T>A (p.Phe120Leu)
c.741T>A (p.Phe247Leu)
c.*34T>A (n.*34T>A)
n.485T>A
c.*405T>A (n.*405T>A)
n.244T>A
c.396T>A (p.Phe132Leu)
15g.26580429A>CCA391464160GABRB3c.572T>G (p.Phe191Cys)
n.615T>G
c.255T>G
c.317T>G (p.Phe106Cys)
c.473T>G (p.Phe158Cys)
c.359T>G (p.Phe120Cys)
c.740T>G (p.Phe247Cys)
c.*33T>G (n.*33T>G)
n.484T>G
c.*404T>G (n.*404T>G)
n.243T>G
c.395T>G (p.Phe132Cys)
15g.26580429A>GCA391464162GABRB3c.572T>C (p.Phe191Ser)
n.615T>C
c.255T>C
c.317T>C (p.Phe106Ser)
c.473T>C (p.Phe158Ser)
c.359T>C (p.Phe120Ser)
c.740T>C (p.Phe247Ser)
c.*33T>C (n.*33T>C)
n.484T>C
c.*404T>C (n.*404T>C)
n.243T>C
c.395T>C (p.Phe132Ser)
15g.26580429A>TCA391464163GABRB3c.572T>A (p.Phe191Tyr)
n.615T>A
c.255T>A
c.317T>A (p.Phe106Tyr)
c.473T>A (p.Phe158Tyr)
c.359T>A (p.Phe120Tyr)
c.740T>A (p.Phe247Tyr)
c.*33T>A (n.*33T>A)
n.484T>A
c.*404T>A (n.*404T>A)
n.243T>A
c.395T>A (p.Phe132Tyr)
15g.26580430A>CCA391464165GABRB3c.571T>G (p.Phe191Val)
n.614T>G
c.254T>G
c.316T>G (p.Phe106Val)
c.472T>G (p.Phe158Val)
c.358T>G (p.Phe120Val)
c.739T>G (p.Phe247Val)
c.*32T>G (n.*32T>G)
n.483T>G
c.*403T>G (n.*403T>G)
n.242T>G
c.394T>G (p.Phe132Val)
15g.26580430A>GCA391464166GABRB3c.571T>C (p.Phe191Leu)
n.614T>C
c.254T>C
c.316T>C (p.Phe106Leu)
c.472T>C (p.Phe158Leu)
c.358T>C (p.Phe120Leu)
c.739T>C (p.Phe247Leu)
c.*32T>C (n.*32T>C)
n.483T>C
c.*403T>C (n.*403T>C)
n.242T>C
c.394T>C (p.Phe132Leu)
15g.26580430A>TCA391464168GABRB3c.571T>A (p.Phe191Ile)
n.614T>A
c.254T>A
c.316T>A (p.Phe106Ile)
c.472T>A (p.Phe158Ile)
c.358T>A (p.Phe120Ile)
c.739T>A (p.Phe247Ile)
c.*32T>A (n.*32T>A)
n.483T>A
c.*403T>A (n.*403T>A)
n.242T>A
c.394T>A (p.Phe132Ile)
15g.26580431C>ACA391464169GABRB3c.570G>T (p.Glu190Asp)
n.613G>T
c.253G>T
c.315G>T (p.Glu105Asp)
c.471G>T (p.Glu157Asp)
c.357G>T (p.Glu119Asp)
c.738G>T (p.Glu246Asp)
c.*31G>T (n.*31G>T)
n.482G>T
c.*402G>T (n.*402G>T)
n.241G>T
c.393G>T (p.Glu131Asp)
15g.26580431C>GCA391464171GABRB3c.570G>C (p.Glu190Asp)
n.613G>C
c.253G>C
c.315G>C (p.Glu105Asp)
c.471G>C (p.Glu157Asp)
c.357G>C (p.Glu119Asp)
c.738G>C (p.Glu246Asp)
c.*31G>C (n.*31G>C)
n.482G>C
c.*402G>C (n.*402G>C)
n.241G>C
c.393G>C (p.Glu131Asp)
15g.26580431C>TCA489071768GABRB3c.570G>A (p.Glu190=)
n.613G>A
c.253G>A
c.315G>A (p.Glu105=)
c.471G>A (p.Glu157=)
c.357G>A (p.Glu119=)
c.738G>A (p.Glu246=)
c.*31G>A (n.*31G>A)
n.482G>A
c.*402G>A (n.*402G>A)
n.241G>A
c.393G>A (p.Glu131=)
 ClinVar dbSNP COSMIC COSMIC COSMIC
15g.26580432T>ACA391464172GABRB3c.569A>T (p.Glu190Val)
n.612A>T
c.252A>T
c.314A>T (p.Glu105Val)
c.470A>T (p.Glu157Val)
c.356A>T (p.Glu119Val)
c.737A>T (p.Glu246Val)
c.*30A>T (n.*30A>T)
n.481A>T
c.*401A>T (n.*401A>T)
n.240A>T
c.392A>T (p.Glu131Val)
15g.26580432T>CCA391464174GABRB3c.569A>G (p.Glu190Gly)
n.612A>G
c.252A>G
c.314A>G (p.Glu105Gly)
c.470A>G (p.Glu157Gly)
c.356A>G (p.Glu119Gly)
c.737A>G (p.Glu246Gly)
c.*30A>G (n.*30A>G)
n.481A>G
c.*401A>G (n.*401A>G)
n.240A>G
c.392A>G (p.Glu131Gly)
15g.26580432T>GCA391464175GABRB3c.569A>C (p.Glu190Ala)
n.612A>C
c.252A>C
c.314A>C (p.Glu105Ala)
c.470A>C (p.Glu157Ala)
c.356A>C (p.Glu119Ala)
c.737A>C (p.Glu246Ala)
c.*30A>C (n.*30A>C)
n.481A>C
c.*401A>C (n.*401A>C)
n.240A>C
c.392A>C (p.Glu131Ala)
15g.26580433C>ACA391464178GABRB3c.568G>T (p.Glu190Ter)
n.611G>T
c.251G>T
c.313G>T (p.Glu105Ter)
c.469G>T (p.Glu157Ter)
c.355G>T (p.Glu119Ter)
c.736G>T (p.Glu246Ter)
c.*29G>T (n.*29G>T)
n.480G>T
c.*400G>T (n.*400G>T)
n.239G>T
c.391G>T (p.Glu131Ter)
15g.26580433C>GCA391464180GABRB3c.568G>C (p.Glu190Gln)
n.611G>C
c.251G>C
c.313G>C (p.Glu105Gln)
c.469G>C (p.Glu157Gln)
c.355G>C (p.Glu119Gln)
c.736G>C (p.Glu246Gln)
c.*29G>C (n.*29G>C)
n.480G>C
c.*400G>C (n.*400G>C)
n.239G>C
c.391G>C (p.Glu131Gln)
15g.26580433C>TCA391464177GABRB3c.568G>A (p.Glu190Lys)
n.611G>A
c.251G>A
c.313G>A (p.Glu105Lys)
c.469G>A (p.Glu157Lys)
c.355G>A (p.Glu119Lys)
c.736G>A (p.Glu246Lys)
c.*29G>A (n.*29G>A)
n.480G>A
c.*400G>A (n.*400G>A)
n.239G>A
c.391G>A (p.Glu131Lys)
15g.26580434A=CA2165760544GABRB3c.567T= (p.Ile189=)
n.610T=
c.250T=
c.312T= (p.Ile104=)
c.468T= (p.Ile156=)
c.354T= (p.Ile118=)
c.735T= (p.Ile245=)
c.*28T= (n.*28T=)
n.479T=
c.*399T= (n.*399T=)
n.238T=
c.390T= (p.Ile130=)
15g.26580434A>CCA391464181GABRB3c.567T>G (p.Ile189Met)
n.610T>G
c.250T>G
c.312T>G (p.Ile104Met)
c.468T>G (p.Ile156Met)
c.354T>G (p.Ile118Met)
c.735T>G (p.Ile245Met)
c.*28T>G (n.*28T>G)
n.479T>G
c.*399T>G (n.*399T>G)
n.238T>G
c.390T>G (p.Ile130Met)
 gnomAD v4
15g.26580434A>GCA489071769GABRB3c.567T>C (p.Ile189=)
n.610T>C
c.250T>C
c.312T>C (p.Ile104=)
c.468T>C (p.Ile156=)
c.354T>C (p.Ile118=)
c.735T>C (p.Ile245=)
c.*28T>C (n.*28T>C)
n.479T>C
c.*399T>C (n.*399T>C)
n.238T>C
c.390T>C (p.Ile130=)
 gnomAD v4
15g.26580434A>TCA268156811GABRB3c.567T>A (p.Ile189=)
n.610T>A
c.250T>A
c.312T>A (p.Ile104=)
c.468T>A (p.Ile156=)
c.354T>A (p.Ile118=)
c.735T>A (p.Ile245=)
c.*28T>A (n.*28T>A)
n.479T>A
c.*399T>A (n.*399T>A)
n.238T>A
c.390T>A (p.Ile130=)
 dbSNP gnomAD v2 gnomAD v4
15g.26580435A>CCA391464182GABRB3c.566T>G (p.Ile189Ser)
n.609T>G
c.249T>G
c.311T>G (p.Ile104Ser)
c.467T>G (p.Ile156Ser)
c.353T>G (p.Ile118Ser)
c.734T>G (p.Ile245Ser)
c.*27T>G (n.*27T>G)
n.478T>G
c.*398T>G (n.*398T>G)
n.237T>G
c.389T>G (p.Ile130Ser)
15g.26580435A>GCA391464183GABRB3c.566T>C (p.Ile189Thr)
n.609T>C
c.249T>C
c.311T>C (p.Ile104Thr)
c.467T>C (p.Ile156Thr)
c.353T>C (p.Ile118Thr)
c.734T>C (p.Ile245Thr)
c.*27T>C (n.*27T>C)
n.478T>C
c.*398T>C (n.*398T>C)
n.237T>C
c.389T>C (p.Ile130Thr)
 ClinVar gnomAD v4
15g.26580435A>TCA391464185GABRB3c.566T>A (p.Ile189Asn)
n.609T>A
c.249T>A
c.311T>A (p.Ile104Asn)
c.467T>A (p.Ile156Asn)
c.353T>A (p.Ile118Asn)
c.734T>A (p.Ile245Asn)
c.*27T>A (n.*27T>A)
n.478T>A
c.*398T>A (n.*398T>A)
n.237T>A
c.389T>A (p.Ile130Asn)
15g.26580436T>ACA391464189GABRB3c.565A>T (p.Ile189Phe)
n.608A>T
c.248A>T
c.310A>T (p.Ile104Phe)
c.466A>T (p.Ile156Phe)
c.352A>T (p.Ile118Phe)
c.733A>T (p.Ile245Phe)
c.*26A>T (n.*26A>T)
n.477A>T
c.*397A>T (n.*397A>T)
n.236A>T
c.388A>T (p.Ile130Phe)
15g.26580436T>CCA391464186GABRB3c.565A>G (p.Ile189Val)
n.608A>G
c.248A>G
c.310A>G (p.Ile104Val)
c.466A>G (p.Ile156Val)
c.352A>G (p.Ile118Val)
c.733A>G (p.Ile245Val)
c.*26A>G (n.*26A>G)
n.477A>G
c.*397A>G (n.*397A>G)
n.236A>G
c.388A>G (p.Ile130Val)
15g.26580436T>GCA391464188GABRB3c.565A>C (p.Ile189Leu)
n.608A>C
c.248A>C
c.310A>C (p.Ile104Leu)
c.466A>C (p.Ile156Leu)
c.352A>C (p.Ile118Leu)
c.733A>C (p.Ile245Leu)
c.*26A>C (n.*26A>C)
n.477A>C
c.*397A>C (n.*397A>C)
n.236A>C
c.388A>C (p.Ile130Leu)
15g.26580437G>ACA489071770GABRB3c.564C>T (p.Asp188=)
n.607C>T
c.247C>T
c.309C>T (p.Asp103=)
c.465C>T (p.Asp155=)
c.351C>T (p.Asp117=)
c.732C>T (p.Asp244=)
c.*25C>T (n.*25C>T)
n.476C>T
c.*396C>T (n.*396C>T)
n.235C>T
c.387C>T (p.Asp129=)
 gnomAD v4
15g.26580437G>CCA391464191GABRB3c.564C>G (p.Asp188Glu)
n.607C>G
c.247C>G
c.309C>G (p.Asp103Glu)
c.465C>G (p.Asp155Glu)
c.351C>G (p.Asp117Glu)
c.732C>G (p.Asp244Glu)
c.*25C>G (n.*25C>G)
n.476C>G
c.*396C>G (n.*396C>G)
n.235C>G
c.387C>G (p.Asp129Glu)
15g.26580437G>TCA391464194GABRB3c.564C>A (p.Asp188Glu)
n.607C>A
c.247C>A
c.309C>A (p.Asp103Glu)
c.465C>A (p.Asp155Glu)
c.351C>A (p.Asp117Glu)
c.732C>A (p.Asp244Glu)
c.*25C>A (n.*25C>A)
n.476C>A
c.*396C>A (n.*396C>A)
n.235C>A
c.387C>A (p.Asp129Glu)
15g.26580438T>ACA391464195GABRB3c.563A>T (p.Asp188Val)
n.606A>T
c.246A>T
c.308A>T (p.Asp103Val)
c.464A>T (p.Asp155Val)
c.350A>T (p.Asp117Val)
c.731A>T (p.Asp244Val)
c.*24A>T (n.*24A>T)
n.475A>T
c.*395A>T (n.*395A>T)
n.234A>T
c.386A>T (p.Asp129Val)
 ClinVar
15g.26580438T>CCA391464196GABRB3c.563A>G (p.Asp188Gly)
n.606A>G
c.246A>G
c.308A>G (p.Asp103Gly)
c.464A>G (p.Asp155Gly)
c.350A>G (p.Asp117Gly)
c.731A>G (p.Asp244Gly)
c.*24A>G (n.*24A>G)
n.475A>G
c.*395A>G (n.*395A>G)
n.234A>G
c.386A>G (p.Asp129Gly)
15g.26580438T>GCA391464198GABRB3c.563A>C (p.Asp188Ala)
n.606A>C
c.246A>C
c.308A>C (p.Asp103Ala)
c.464A>C (p.Asp155Ala)
c.350A>C (p.Asp117Ala)
c.731A>C (p.Asp244Ala)
c.*24A>C (n.*24A>C)
n.475A>C
c.*395A>C (n.*395A>C)
n.234A>C
c.386A>C (p.Asp129Ala)
15g.26580439C>ACA391464202GABRB3c.562G>T (p.Asp188Tyr)
n.605G>T
c.245G>T
c.307G>T (p.Asp103Tyr)
c.463G>T (p.Asp155Tyr)
c.349G>T (p.Asp117Tyr)
c.730G>T (p.Asp244Tyr)
c.*23G>T (n.*23G>T)
n.474G>T
c.*394G>T (n.*394G>T)
n.233G>T
c.385G>T (p.Asp129Tyr)
15g.26580439C>GCA391464200GABRB3c.562G>C (p.Asp188His)
n.605G>C
c.245G>C
c.307G>C (p.Asp103His)
c.463G>C (p.Asp155His)
c.349G>C (p.Asp117His)
c.730G>C (p.Asp244His)
c.*23G>C (n.*23G>C)
n.474G>C
c.*394G>C (n.*394G>C)
n.233G>C
c.385G>C (p.Asp129His)
15g.26580439C>TCA391464199GABRB3c.562G>A (p.Asp188Asn)
n.605G>A
c.245G>A
c.307G>A (p.Asp103Asn)
c.463G>A (p.Asp155Asn)
c.349G>A (p.Asp117Asn)
c.730G>A (p.Asp244Asn)
c.*23G>A (n.*23G>A)
n.474G>A
c.*394G>A (n.*394G>A)
n.233G>A
c.385G>A (p.Asp129Asn)
 COSMIC COSMIC COSMIC
15g.26580440A>CCA391464204GABRB3c.561T>G (p.Asp187Glu)
n.604T>G
c.244T>G
c.306T>G (p.Asp102Glu)
c.462T>G (p.Asp154Glu)
c.348T>G (p.Asp116Glu)
c.729T>G (p.Asp243Glu)
c.*22T>G (n.*22T>G)
n.473T>G
c.*393T>G (n.*393T>G)
n.232T>G
c.384T>G (p.Asp128Glu)
15g.26580440A>GCA489071771GABRB3c.561T>C (p.Asp187=)
n.604T>C
c.244T>C
c.306T>C (p.Asp102=)
c.462T>C (p.Asp154=)
c.348T>C (p.Asp116=)
c.729T>C (p.Asp243=)
c.*22T>C (n.*22T>C)
n.473T>C
c.*393T>C (n.*393T>C)
n.232T>C
c.384T>C (p.Asp128=)
15g.26580440A>TCA391464205GABRB3c.561T>A (p.Asp187Glu)
n.604T>A
c.244T>A
c.306T>A (p.Asp102Glu)
c.462T>A (p.Asp154Glu)
c.348T>A (p.Asp116Glu)
c.729T>A (p.Asp243Glu)
c.*22T>A (n.*22T>A)
n.473T>A
c.*393T>A (n.*393T>A)
n.232T>A
c.384T>A (p.Asp128Glu)
15g.26580441T>ACA391464207GABRB3c.560A>T (p.Asp187Val)
n.603A>T
c.243A>T
c.305A>T (p.Asp102Val)
c.461A>T (p.Asp154Val)
c.347A>T (p.Asp116Val)
c.728A>T (p.Asp243Val)
c.*21A>T (n.*21A>T)
n.472A>T
c.*392A>T (n.*392A>T)
n.231A>T
c.383A>T (p.Asp128Val)
15g.26580441T>CCA391464208GABRB3c.560A>G (p.Asp187Gly)
n.603A>G
c.243A>G
c.305A>G (p.Asp102Gly)
c.461A>G (p.Asp154Gly)
c.347A>G (p.Asp116Gly)
c.728A>G (p.Asp243Gly)
c.*21A>G (n.*21A>G)
n.472A>G
c.*392A>G (n.*392A>G)
n.231A>G
c.383A>G (p.Asp128Gly)
15g.26580441T>GCA391464210GABRB3c.560A>C (p.Asp187Ala)
n.603A>C
c.243A>C
c.305A>C (p.Asp102Ala)
c.461A>C (p.Asp154Ala)
c.347A>C (p.Asp116Ala)
c.728A>C (p.Asp243Ala)
c.*21A>C (n.*21A>C)
n.472A>C
c.*392A>C (n.*392A>C)
n.231A>C
c.383A>C (p.Asp128Ala)
15g.26580442C>ACA391464212GABRB3c.559G>T (p.Asp187Tyr)
n.602G>T
c.242G>T
c.304G>T (p.Asp102Tyr)
c.460G>T (p.Asp154Tyr)
c.346G>T (p.Asp116Tyr)
c.727G>T (p.Asp243Tyr)
c.*20G>T (n.*20G>T)
n.471G>T
c.*391G>T (n.*391G>T)
n.230G>T
c.382G>T (p.Asp128Tyr)
 COSMIC COSMIC COSMIC
15g.26580442C>GCA391464213GABRB3c.559G>C (p.Asp187His)
n.602G>C
c.242G>C
c.304G>C (p.Asp102His)
c.460G>C (p.Asp154His)
c.346G>C (p.Asp116His)
c.727G>C (p.Asp243His)
c.*20G>C (n.*20G>C)
n.471G>C
c.*391G>C (n.*391G>C)
n.230G>C
c.382G>C (p.Asp128His)
15g.26580442C>TCA391464215GABRB3c.559G>A (p.Asp187Asn)
n.602G>A
c.242G>A
c.304G>A (p.Asp102Asn)
c.460G>A (p.Asp154Asn)
c.346G>A (p.Asp116Asn)
c.727G>A (p.Asp243Asn)
c.*20G>A (n.*20G>A)
n.471G>A
c.*391G>A (n.*391G>A)
n.230G>A
c.382G>A (p.Asp128Asn)
 COSMIC COSMIC COSMIC
15g.26580443C>ACA489071772GABRB3c.558G>T (p.Thr186=)
n.601G>T
c.241G>T
c.303G>T (p.Thr101=)
c.459G>T (p.Thr153=)
c.345G>T (p.Thr115=)
c.726G>T (p.Thr242=)
c.*19G>T (n.*19G>T)
n.470G>T
c.*390G>T (n.*390G>T)
n.229G>T
c.381G>T (p.Thr127=)
15g.26580443C=CA2165760545GABRB3c.558G= (p.Thr186=)
n.601G=
c.241G=
c.303G= (p.Thr101=)
c.459G= (p.Thr153=)
c.345G= (p.Thr115=)
c.726G= (p.Thr242=)
c.*19G= (n.*19G=)
n.470G=
c.*390G= (n.*390G=)
n.229G=
c.381G= (p.Thr127=)
15g.26580443C>GCA489071773GABRB3c.558G>C (p.Thr186=)
n.601G>C
c.241G>C
c.303G>C (p.Thr101=)
c.459G>C (p.Thr153=)
c.345G>C (p.Thr115=)
c.726G>C (p.Thr242=)
c.*19G>C (n.*19G>C)
n.470G>C
c.*390G>C (n.*390G>C)
n.229G>C
c.381G>C (p.Thr127=)
 gnomAD v4
15g.26580443C>TCA7437405GABRB3c.558G>A (p.Thr186=)
n.601G>A
c.241G>A
c.303G>A (p.Thr101=)
c.459G>A (p.Thr153=)
c.345G>A (p.Thr115=)
c.726G>A (p.Thr242=)
c.*19G>A (n.*19G>A)
n.470G>A
c.*390G>A (n.*390G>A)
n.229G>A
c.381G>A (p.Thr127=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.26580444G>ACA7437406GABRB3c.557C>T (p.Thr186Met)
n.600C>T
c.240C>T
c.302C>T (p.Thr101Met)
c.458C>T (p.Thr153Met)
c.344C>T (p.Thr115Met)
c.725C>T (p.Thr242Met)
c.*18C>T (n.*18C>T)
n.469C>T
c.*389C>T (n.*389C>T)
n.228C>T
c.380C>T (p.Thr127Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.26580444G>CCA391464217GABRB3c.557C>G (p.Thr186Arg)
n.600C>G
c.240C>G
c.302C>G (p.Thr101Arg)
c.458C>G (p.Thr153Arg)
c.344C>G (p.Thr115Arg)
c.725C>G (p.Thr242Arg)
c.*18C>G (n.*18C>G)
n.469C>G
c.*389C>G (n.*389C>G)
n.228C>G
c.380C>G (p.Thr127Arg)
15g.26580444G=CA2165760546GABRB3c.557C= (p.Thr186=)
n.600C=
c.240C=
c.302C= (p.Thr101=)
c.458C= (p.Thr153=)
c.344C= (p.Thr115=)
c.725C= (p.Thr242=)
c.*18C= (n.*18C=)
n.469C=
c.*389C= (n.*389C=)
n.228C=
c.380C= (p.Thr127=)
15g.26580444G>TCA391464218GABRB3c.557C>A (p.Thr186Lys)
n.600C>A
c.240C>A
c.302C>A (p.Thr101Lys)
c.458C>A (p.Thr153Lys)
c.344C>A (p.Thr115Lys)
c.725C>A (p.Thr242Lys)
c.*18C>A (n.*18C>A)
n.469C>A
c.*389C>A (n.*389C>A)
n.228C>A
c.380C>A (p.Thr127Lys)
15g.26580445T>ACA391464221GABRB3c.556A>T (p.Thr186Ser)
n.599A>T
c.239A>T
c.301A>T (p.Thr101Ser)
c.457A>T (p.Thr153Ser)
c.343A>T (p.Thr115Ser)
c.724A>T (p.Thr242Ser)
c.*17A>T (n.*17A>T)
n.468A>T
c.*388A>T (n.*388A>T)
n.227A>T
c.379A>T (p.Thr127Ser)
15g.26580445T>CCA391464223GABRB3c.556A>G (p.Thr186Ala)
n.599A>G
c.239A>G
c.301A>G (p.Thr101Ala)
c.457A>G (p.Thr153Ala)
c.343A>G (p.Thr115Ala)
c.724A>G (p.Thr242Ala)
c.*17A>G (n.*17A>G)
n.468A>G
c.*388A>G (n.*388A>G)
n.227A>G
c.379A>G (p.Thr127Ala)
15g.26580445T>GCA391464220GABRB3c.556A>C (p.Thr186Pro)
n.599A>C
c.239A>C
c.301A>C (p.Thr101Pro)
c.457A>C (p.Thr153Pro)
c.343A>C (p.Thr115Pro)
c.724A>C (p.Thr242Pro)
c.*17A>C (n.*17A>C)
n.468A>C
c.*388A>C (n.*388A>C)
n.227A>C
c.379A>C (p.Thr127Pro)
15g.26580446G>ACA489071774GABRB3c.555C>T (p.Thr185=)
n.598C>T
c.238C>T
c.300C>T (p.Thr100=)
c.456C>T (p.Thr152=)
c.342C>T (p.Thr114=)
c.723C>T (p.Thr241=)
c.*16C>T (n.*16C>T)
n.467C>T
c.*387C>T (n.*387C>T)
n.226C>T
c.378C>T (p.Thr126=)
15g.26580446G>CCA489071775GABRB3c.555C>G (p.Thr185=)
n.598C>G
c.238C>G
c.300C>G (p.Thr100=)
c.456C>G (p.Thr152=)
c.342C>G (p.Thr114=)
c.723C>G (p.Thr241=)
c.*16C>G (n.*16C>G)
n.467C>G
c.*387C>G (n.*387C>G)
n.226C>G
c.378C>G (p.Thr126=)
15g.26580446G>TCA489071776GABRB3c.555C>A (p.Thr185=)
n.598C>A
c.238C>A
c.300C>A (p.Thr100=)
c.456C>A (p.Thr152=)
c.342C>A (p.Thr114=)
c.723C>A (p.Thr241=)
c.*16C>A (n.*16C>A)
n.467C>A
c.*387C>A (n.*387C>A)
n.226C>A
c.378C>A (p.Thr126=)
 COSMIC COSMIC COSMIC
15g.26580447G>ACA391464224GABRB3c.554C>T (p.Thr185Ile)
n.597C>T
c.237C>T
c.299C>T (p.Thr100Ile)
c.455C>T (p.Thr152Ile)
c.341C>T (p.Thr114Ile)
c.722C>T (p.Thr241Ile)
c.*15C>T (n.*15C>T)
n.466C>T
c.*386C>T (n.*386C>T)
n.225C>T
c.377C>T (p.Thr126Ile)
 ClinVar dbSNP
15g.26580447G>CCA391464226GABRB3c.554C>G (p.Thr185Ser)
n.597C>G
c.237C>G
c.299C>G (p.Thr100Ser)
c.455C>G (p.Thr152Ser)
c.341C>G (p.Thr114Ser)
c.722C>G (p.Thr241Ser)
c.*15C>G (n.*15C>G)
n.466C>G
c.*386C>G (n.*386C>G)
n.225C>G
c.377C>G (p.Thr126Ser)
 COSMIC COSMIC COSMIC
15g.26580447G=CA2165760547GABRB3c.554C= (p.Thr185=)
n.597C=
c.237C=
c.299C= (p.Thr100=)
c.455C= (p.Thr152=)
c.341C= (p.Thr114=)
c.722C= (p.Thr241=)
c.*15C= (n.*15C=)
n.466C=
c.*386C= (n.*386C=)
n.225C=
c.377C= (p.Thr126=)
15g.26580447G>TCA391464227GABRB3c.554C>A (p.Thr185Asn)
n.597C>A
c.237C>A
c.299C>A (p.Thr100Asn)
c.455C>A (p.Thr152Asn)
c.341C>A (p.Thr114Asn)
c.722C>A (p.Thr241Asn)
c.*15C>A (n.*15C>A)
n.466C>A
c.*386C>A (n.*386C>A)
n.225C>A
c.377C>A (p.Thr126Asn)
15g.26580448T>ACA391464229GABRB3c.553A>T (p.Thr185Ser)
n.596A>T
c.236A>T
c.298A>T (p.Thr100Ser)
c.454A>T (p.Thr152Ser)
c.340A>T (p.Thr114Ser)
c.721A>T (p.Thr241Ser)
c.*14A>T (n.*14A>T)
n.465A>T
c.*385A>T (n.*385A>T)
n.224A>T
c.376A>T (p.Thr126Ser)
15g.26580448T>CCA391464230GABRB3c.553A>G (p.Thr185Ala)
n.596A>G
c.236A>G
c.298A>G (p.Thr100Ala)
c.454A>G (p.Thr152Ala)
c.340A>G (p.Thr114Ala)
c.721A>G (p.Thr241Ala)
c.*14A>G (n.*14A>G)
n.465A>G
c.*385A>G (n.*385A>G)
n.224A>G
c.376A>G (p.Thr126Ala)
15g.26580448T>GCA391464231GABRB3c.553A>C (p.Thr185Pro)
n.596A>C
c.236A>C
c.298A>C (p.Thr100Pro)
c.454A>C (p.Thr152Pro)
c.340A>C (p.Thr114Pro)
c.721A>C (p.Thr241Pro)
c.*14A>C (n.*14A>C)
n.465A>C
c.*385A>C (n.*385A>C)
n.224A>C
c.376A>C (p.Thr126Pro)
 ClinVar dbSNP
15g.26580448T=CA2165760548GABRB3c.553A= (p.Thr185=)
n.596A=
c.236A=
c.298A= (p.Thr100=)
c.454A= (p.Thr152=)
c.340A= (p.Thr114=)
c.721A= (p.Thr241=)
c.*14A= (n.*14A=)
n.465A=
c.*385A= (n.*385A=)
n.224A=
c.376A= (p.Thr126=)
15g.26580449G>ACA489071777GABRB3c.552C>T (p.Tyr184=)
n.595C>T
c.235C>T
c.297C>T (p.Tyr99=)
c.453C>T (p.Tyr151=)
c.339C>T (p.Tyr113=)
c.720C>T (p.Tyr240=)
c.*13C>T (n.*13C>T)
n.464C>T
c.*384C>T (n.*384C>T)
n.223C>T
c.375C>T (p.Tyr125=)
 gnomAD v4
15g.26580449G>CCA391464233GABRB3c.552C>G (p.Tyr184Ter)
n.595C>G
c.235C>G
c.297C>G (p.Tyr99Ter)
c.453C>G (p.Tyr151Ter)
c.339C>G (p.Tyr113Ter)
c.720C>G (p.Tyr240Ter)
c.*13C>G (n.*13C>G)
n.464C>G
c.*384C>G (n.*384C>G)
n.223C>G
c.375C>G (p.Tyr125Ter)
15g.26580449G>TCA391464234GABRB3c.552C>A (p.Tyr184Ter)
n.595C>A
c.235C>A
c.297C>A (p.Tyr99Ter)
c.453C>A (p.Tyr151Ter)
c.339C>A (p.Tyr113Ter)
c.720C>A (p.Tyr240Ter)
c.*13C>A (n.*13C>A)
n.464C>A
c.*384C>A (n.*384C>A)
n.223C>A
c.375C>A (p.Tyr125Ter)
15g.26580450T>ACA391464236GABRB3c.551A>T (p.Tyr184Phe)
n.594A>T
c.234A>T
c.296A>T (p.Tyr99Phe)
c.452A>T (p.Tyr151Phe)
c.338A>T (p.Tyr113Phe)
c.719A>T (p.Tyr240Phe)
c.*12A>T (n.*12A>T)
n.463A>T
c.*383A>T (n.*383A>T)
n.222A>T
c.374A>T (p.Tyr125Phe)
15g.26580450T>CCA391464237GABRB3c.551A>G (p.Tyr184Cys)
n.594A>G
c.234A>G
c.296A>G (p.Tyr99Cys)
c.452A>G (p.Tyr151Cys)
c.338A>G (p.Tyr113Cys)
c.719A>G (p.Tyr240Cys)
c.*12A>G (n.*12A>G)
n.463A>G
c.*383A>G (n.*383A>G)
n.222A>G
c.374A>G (p.Tyr125Cys)
 ClinVar
15g.26580450T>GCA391464239GABRB3c.551A>C (p.Tyr184Ser)
n.594A>C
c.234A>C
c.296A>C (p.Tyr99Ser)
c.452A>C (p.Tyr151Ser)
c.338A>C (p.Tyr113Ser)
c.719A>C (p.Tyr240Ser)
c.*12A>C (n.*12A>C)
n.463A>C
c.*383A>C (n.*383A>C)
n.222A>C
c.374A>C (p.Tyr125Ser)
15g.26580451A>CCA391464241GABRB3c.550T>G (p.Tyr184Asp)
n.593T>G
c.233T>G
c.295T>G (p.Tyr99Asp)
c.451T>G (p.Tyr151Asp)
c.337T>G (p.Tyr113Asp)
c.718T>G (p.Tyr240Asp)
c.*11T>G (n.*11T>G)
n.462T>G
c.*382T>G (n.*382T>G)
n.221T>G
c.373T>G (p.Tyr125Asp)
15g.26580451A>GCA391464242GABRB3c.550T>C (p.Tyr184His)
n.593T>C
c.233T>C
c.295T>C (p.Tyr99His)
c.451T>C (p.Tyr151His)
c.337T>C (p.Tyr113His)
c.718T>C (p.Tyr240His)
c.*11T>C (n.*11T>C)
n.462T>C
c.*382T>C (n.*382T>C)
n.221T>C
c.373T>C (p.Tyr125His)
15g.26580451A>TCA391464245GABRB3c.550T>A (p.Tyr184Asn)
n.593T>A
c.233T>A
c.295T>A (p.Tyr99Asn)
c.451T>A (p.Tyr151Asn)
c.337T>A (p.Tyr113Asn)
c.718T>A (p.Tyr240Asn)
c.*11T>A (n.*11T>A)
n.462T>A
c.*382T>A (n.*382T>A)
n.221T>A
c.373T>A (p.Tyr125Asn)
15g.26580452G>ACA7437407GABRB3c.549C>T (p.Gly183=)
n.592C>T
c.232C>T
c.294C>T (p.Gly98=)
c.450C>T (p.Gly150=)
c.336C>T (p.Gly112=)
c.717C>T (p.Gly239=)
c.*10C>T (n.*10C>T)
n.461C>T
c.*381C>T (n.*381C>T)
n.220C>T
c.372C>T (p.Gly124=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.26580452G>CCA489071779GABRB3c.549C>G (p.Gly183=)
n.592C>G
c.232C>G
c.294C>G (p.Gly98=)
c.450C>G (p.Gly150=)
c.336C>G (p.Gly112=)
c.717C>G (p.Gly239=)
c.*10C>G (n.*10C>G)
n.461C>G
c.*381C>G (n.*381C>G)
n.220C>G
c.372C>G (p.Gly124=)
15g.26580452G=CA2165760549GABRB3c.549C= (p.Gly183=)
n.592C=
c.232C=
c.294C= (p.Gly98=)
c.450C= (p.Gly150=)
c.336C= (p.Gly112=)
c.717C= (p.Gly239=)
c.*10C= (n.*10C=)
n.461C=
c.*381C= (n.*381C=)
n.220C=
c.372C= (p.Gly124=)
15g.26580452G>TCA489071778GABRB3c.549C>A (p.Gly183=)
n.592C>A
c.232C>A
c.294C>A (p.Gly98=)
c.450C>A (p.Gly150=)
c.336C>A (p.Gly112=)
c.717C>A (p.Gly239=)
c.*10C>A (n.*10C>A)
n.461C>A
c.*381C>A (n.*381C>A)
n.220C>A
c.372C>A (p.Gly124=)
15g.26580453C>ACA391464249GABRB3c.548G>T (p.Gly183Val)
n.591G>T
c.231G>T
c.293G>T (p.Gly98Val)
c.449G>T (p.Gly150Val)
c.335G>T (p.Gly112Val)
c.716G>T (p.Gly239Val)
c.*9G>T (n.*9G>T)
n.460G>T
c.*380G>T (n.*380G>T)
n.219G>T
c.371G>T (p.Gly124Val)
15g.26580453C>GCA391464247GABRB3c.548G>C (p.Gly183Ala)
n.591G>C
c.231G>C
c.293G>C (p.Gly98Ala)
c.449G>C (p.Gly150Ala)
c.335G>C (p.Gly112Ala)
c.716G>C (p.Gly239Ala)
c.*9G>C (n.*9G>C)
n.460G>C
c.*380G>C (n.*380G>C)
n.219G>C
c.371G>C (p.Gly124Ala)
15g.26580453C>TCA391464250GABRB3c.548G>A (p.Gly183Asp)
n.591G>A
c.231G>A
c.293G>A (p.Gly98Asp)
c.449G>A (p.Gly150Asp)
c.335G>A (p.Gly112Asp)
c.716G>A (p.Gly239Asp)
c.*9G>A (n.*9G>A)
n.460G>A
c.*380G>A (n.*380G>A)
n.219G>A
c.371G>A (p.Gly124Asp)
 COSMIC COSMIC COSMIC
15g.26580454C>ACA391464251GABRB3c.547G>T (p.Gly183Cys)
n.590G>T
c.230G>T
c.292G>T (p.Gly98Cys)
c.448G>T (p.Gly150Cys)
c.334G>T (p.Gly112Cys)
c.715G>T (p.Gly239Cys)
c.*8G>T (n.*8G>T)
n.459G>T
c.*379G>T (n.*379G>T)
n.218G>T
c.370G>T (p.Gly124Cys)
15g.26580454C>GCA391464254GABRB3c.547G>C (p.Gly183Arg)
n.590G>C
c.230G>C
c.292G>C (p.Gly98Arg)
c.448G>C (p.Gly150Arg)
c.334G>C (p.Gly112Arg)
c.715G>C (p.Gly239Arg)
c.*8G>C (n.*8G>C)
n.459G>C
c.*379G>C (n.*379G>C)
n.218G>C
c.370G>C (p.Gly124Arg)
15g.26580454C>TCA391464252GABRB3c.547G>A (p.Gly183Ser)
n.590G>A
c.230G>A
c.292G>A (p.Gly98Ser)
c.448G>A (p.Gly150Ser)
c.334G>A (p.Gly112Ser)
c.715G>A (p.Gly239Ser)
c.*8G>A (n.*8G>A)
n.459G>A
c.*379G>A (n.*379G>A)
n.218G>A
c.370G>A (p.Gly124Ser)
15g.26580455A>CCA391464255GABRB3c.546T>G (p.Tyr182Ter)
n.589T>G
c.229T>G
c.291T>G (p.Tyr97Ter)
c.447T>G (p.Tyr149Ter)
c.333T>G (p.Tyr111Ter)
c.714T>G (p.Tyr238Ter)
c.*7T>G (n.*7T>G)
n.458T>G
c.*378T>G (n.*378T>G)
n.217T>G
c.369T>G (p.Tyr123Ter)
15g.26580455A>GCA489071780GABRB3c.546T>C (p.Tyr182=)
n.589T>C
c.229T>C
c.291T>C (p.Tyr97=)
c.447T>C (p.Tyr149=)
c.333T>C (p.Tyr111=)
c.714T>C (p.Tyr238=)
c.*7T>C (n.*7T>C)
n.458T>C
c.*378T>C (n.*378T>C)
n.217T>C
c.369T>C (p.Tyr123=)
 gnomAD v4
15g.26580455A>TCA391464256GABRB3c.546T>A (p.Tyr182Ter)
n.589T>A
c.229T>A
c.291T>A (p.Tyr97Ter)
c.447T>A (p.Tyr149Ter)
c.333T>A (p.Tyr111Ter)
c.714T>A (p.Tyr238Ter)
c.*7T>A (n.*7T>A)
n.458T>A
c.*378T>A (n.*378T>A)
n.217T>A
c.369T>A (p.Tyr123Ter)
15g.26580456T>ACA10586388GABRB3c.545A>T (p.Tyr182Phe)
n.588A>T
c.228A>T
c.290A>T (p.Tyr97Phe)
c.446A>T (p.Tyr149Phe)
c.332A>T (p.Tyr111Phe)
c.713A>T (p.Tyr238Phe)
c.*6A>T (n.*6A>T)
n.457A>T
c.*377A>T (n.*377A>T)
n.216A>T
c.368A>T (p.Tyr123Phe)
 ClinVar dbSNP
15g.26580456T>CCA391464259GABRB3c.545A>G (p.Tyr182Cys)
n.588A>G
c.228A>G
c.290A>G (p.Tyr97Cys)
c.446A>G (p.Tyr149Cys)
c.332A>G (p.Tyr111Cys)
c.713A>G (p.Tyr238Cys)
c.*6A>G (n.*6A>G)
n.457A>G
c.*377A>G (n.*377A>G)
n.216A>G
c.368A>G (p.Tyr123Cys)
 ClinVar dbSNP
15g.26580456T>GCA391464260GABRB3c.545A>C (p.Tyr182Ser)
n.588A>C
c.228A>C
c.290A>C (p.Tyr97Ser)
c.446A>C (p.Tyr149Ser)
c.332A>C (p.Tyr111Ser)
c.713A>C (p.Tyr238Ser)
c.*6A>C (n.*6A>C)
n.457A>C
c.*377A>C (n.*377A>C)
n.216A>C
c.368A>C (p.Tyr123Ser)
15g.26580456T=CA2165760550GABRB3c.545A= (p.Tyr182=)
n.588A=
c.228A=
c.290A= (p.Tyr97=)
c.446A= (p.Tyr149=)
c.332A= (p.Tyr111=)
c.713A= (p.Tyr238=)
c.*6A= (n.*6A=)
n.457A=
c.*377A= (n.*377A=)
n.216A=
c.368A= (p.Tyr123=)
15g.26580457C>ACA391464261GABRB3c.545-1G>T (n.545-1G>T)
n.588-1G>T
c.228-1G>T
c.290-1G>T (n.290-1G>T)
c.446-1G>T (n.446-1G>T)
c.332-1G>T (n.332-1G>T)
c.713-1G>T (n.713-1G>T)
c.*6-1G>T (n.*6-1G>T)
n.457-1G>T
c.*377-1G>T (n.*377-1G>T)
n.215G>T
c.368-1G>T (n.368-1G>T)
15g.26580457C>GCA391464262GABRB3c.545-1G>C (n.545-1G>C)
n.588-1G>C
c.228-1G>C
c.290-1G>C (n.290-1G>C)
c.446-1G>C (n.446-1G>C)
c.332-1G>C (n.332-1G>C)
c.713-1G>C (n.713-1G>C)
c.*6-1G>C (n.*6-1G>C)
n.457-1G>C
c.*377-1G>C (n.*377-1G>C)
n.215G>C
c.368-1G>C (n.368-1G>C)
15g.26580457C>TCA391464263GABRB3c.545-1G>A (n.545-1G>A)
n.588-1G>A
c.228-1G>A
c.290-1G>A (n.290-1G>A)
c.446-1G>A (n.446-1G>A)
c.332-1G>A (n.332-1G>A)
c.713-1G>A (n.713-1G>A)
c.*6-1G>A (n.*6-1G>A)
n.457-1G>A
c.*377-1G>A (n.*377-1G>A)
n.215G>A
c.368-1G>A (n.368-1G>A)
 COSMIC COSMIC COSMIC
15g.26580458T>ACA391464265GABRB3c.545-2A>T (n.545-2A>T)
n.588-2A>T
c.228-2A>T
c.290-2A>T (n.290-2A>T)
c.446-2A>T (n.446-2A>T)
c.332-2A>T (n.332-2A>T)
c.713-2A>T (n.713-2A>T)
c.*6-2A>T (n.*6-2A>T)
n.457-2A>T
c.*377-2A>T (n.*377-2A>T)
n.214A>T
c.368-2A>T (n.368-2A>T)
15g.26580458T>CCA391464267GABRB3c.545-2A>G (n.545-2A>G)
n.588-2A>G
c.228-2A>G
c.290-2A>G (n.290-2A>G)
c.446-2A>G (n.446-2A>G)
c.332-2A>G (n.332-2A>G)
c.713-2A>G (n.713-2A>G)
c.*6-2A>G (n.*6-2A>G)
n.457-2A>G
c.*377-2A>G (n.*377-2A>G)
n.214A>G
c.368-2A>G (n.368-2A>G)
 ClinVar
15g.26580458T>GCA391464268GABRB3c.545-2A>C (n.545-2A>C)
n.588-2A>C
c.228-2A>C
c.290-2A>C (n.290-2A>C)
c.446-2A>C (n.446-2A>C)
c.332-2A>C (n.332-2A>C)
c.713-2A>C (n.713-2A>C)
c.*6-2A>C (n.*6-2A>C)
n.457-2A>C
c.*377-2A>C (n.*377-2A>C)
n.214A>C
c.368-2A>C (n.368-2A>C)
15g.26580460C>TCA2803470410GABRB3c.545-4G>A (n.545-4G>A)
n.588-4G>A
c.228-4G>A
c.290-4G>A (n.290-4G>A)
c.446-4G>A (n.446-4G>A)
c.332-4G>A (n.332-4G>A)
c.713-4G>A (n.713-4G>A)
c.*6-4G>A (n.*6-4G>A)
n.457-4G>A
c.*377-4G>A (n.*377-4G>A)
n.212G>A
c.368-4G>A (n.368-4G>A)
15g.26580462A=CA2165760551GABRB3c.545-6T= (n.545-6T=)
n.588-6T=
c.228-6T=
c.290-6T= (n.290-6T=)
c.446-6T= (n.446-6T=)
c.332-6T= (n.332-6T=)
c.713-6T= (n.713-6T=)
c.*6-6T= (n.*6-6T=)
n.457-6T=
c.*377-6T= (n.*377-6T=)
n.210T=
c.368-6T= (n.368-6T=)
15g.26580462A>CCA616945581GABRB3c.545-6T>G (n.545-6T>G)
n.588-6T>G
c.228-6T>G
c.290-6T>G (n.290-6T>G)
c.446-6T>G (n.446-6T>G)
c.332-6T>G (n.332-6T>G)
c.713-6T>G (n.713-6T>G)
c.*6-6T>G (n.*6-6T>G)
n.457-6T>G
c.*377-6T>G (n.*377-6T>G)
n.210T>G
c.368-6T>G (n.368-6T>G)
 dbSNP gnomAD v2
15g.26580462A>GCA2627355828GABRB3c.545-6T>C (n.545-6T>C)
n.588-6T>C
c.228-6T>C
c.290-6T>C (n.290-6T>C)
c.446-6T>C (n.446-6T>C)
c.332-6T>C (n.332-6T>C)
c.713-6T>C (n.713-6T>C)
c.*6-6T>C (n.*6-6T>C)
n.457-6T>C
c.*377-6T>C (n.*377-6T>C)
n.210T>C
c.368-6T>C (n.368-6T>C)
 gnomAD v4
15g.26580462A>TCA2803470412GABRB3c.545-6T>A (n.545-6T>A)
n.588-6T>A
c.228-6T>A
c.290-6T>A (n.290-6T>A)
c.446-6T>A (n.446-6T>A)
c.332-6T>A (n.332-6T>A)
c.713-6T>A (n.713-6T>A)
c.*6-6T>A (n.*6-6T>A)
n.457-6T>A
c.*377-6T>A (n.*377-6T>A)
n.210T>A
c.368-6T>A (n.368-6T>A)
15g.26580464G>CCA616945583GABRB3c.545-8C>G (n.545-8C>G)
n.588-8C>G
c.228-8C>G
c.290-8C>G (n.290-8C>G)
c.446-8C>G (n.446-8C>G)
c.332-8C>G (n.332-8C>G)
c.713-8C>G (n.713-8C>G)
c.*6-8C>G (n.*6-8C>G)
n.457-8C>G
c.*377-8C>G (n.*377-8C>G)
n.208C>G
c.368-8C>G (n.368-8C>G)
 dbSNP gnomAD v2 gnomAD v4
15g.26580464G=CA2165760552GABRB3c.545-8C= (n.545-8C=)
n.588-8C=
c.228-8C=
c.290-8C= (n.290-8C=)
c.446-8C= (n.446-8C=)
c.332-8C= (n.332-8C=)
c.713-8C= (n.713-8C=)
c.*6-8C= (n.*6-8C=)
n.457-8C=
c.*377-8C= (n.*377-8C=)
n.208C=
c.368-8C= (n.368-8C=)

Number of alleles fetched