Chr Mutation (hg38) CAid Gene Transcript Linkouts
15g.26561086T>ACA391462045GABRB3c.926A>T (p.Tyr309Phe)
n.969A>T
c.609A>T
c.671A>T (p.Tyr224Phe)
c.827A>T (p.Tyr276Phe)
c.713A>T (p.Tyr238Phe)
c.1094A>T (p.Tyr365Phe)
c.*387A>T (n.*387A>T)
n.838A>T
c.*758A>T (n.*758A>T)
c.749A>T (p.Tyr250Phe)
15g.26561086T>CCA391462046GABRB3c.926A>G (p.Tyr309Cys)
n.969A>G
c.609A>G
c.671A>G (p.Tyr224Cys)
c.827A>G (p.Tyr276Cys)
c.713A>G (p.Tyr238Cys)
c.1094A>G (p.Tyr365Cys)
c.*387A>G (n.*387A>G)
n.838A>G
c.*758A>G (n.*758A>G)
c.749A>G (p.Tyr250Cys)
15g.26561086T>GCA391462047GABRB3c.926A>C (p.Tyr309Ser)
n.969A>C
c.609A>C
c.671A>C (p.Tyr224Ser)
c.827A>C (p.Tyr276Ser)
c.713A>C (p.Tyr238Ser)
c.1094A>C (p.Tyr365Ser)
c.*387A>C (n.*387A>C)
n.838A>C
c.*758A>C (n.*758A>C)
c.749A>C (p.Tyr250Ser)
15g.26561087A>CCA391462048GABRB3c.925T>G (p.Tyr309Asp)
n.968T>G
c.608T>G
c.670T>G (p.Tyr224Asp)
c.826T>G (p.Tyr276Asp)
c.712T>G (p.Tyr238Asp)
c.1093T>G (p.Tyr365Asp)
c.*386T>G (n.*386T>G)
n.837T>G
c.*757T>G (n.*757T>G)
c.748T>G (p.Tyr250Asp)
15g.26561087A>GCA391462049GABRB3c.925T>C (p.Tyr309His)
n.968T>C
c.608T>C
c.670T>C (p.Tyr224His)
c.826T>C (p.Tyr276His)
c.712T>C (p.Tyr238His)
c.1093T>C (p.Tyr365His)
c.*386T>C (n.*386T>C)
n.837T>C
c.*757T>C (n.*757T>C)
c.748T>C (p.Tyr250His)
15g.26561087A>TCA391462050GABRB3c.925T>A (p.Tyr309Asn)
n.968T>A
c.608T>A
c.670T>A (p.Tyr224Asn)
c.826T>A (p.Tyr276Asn)
c.712T>A (p.Tyr238Asn)
c.1093T>A (p.Tyr365Asn)
c.*386T>A (n.*386T>A)
n.837T>A
c.*757T>A (n.*757T>A)
c.748T>A (p.Tyr250Asn)
15g.26561088C>ACA391462052GABRB3c.924G>T (p.Met308Ile)
n.967G>T
c.607G>T
c.669G>T (p.Met223Ile)
c.825G>T (p.Met275Ile)
c.711G>T (p.Met237Ile)
c.1092G>T (p.Met364Ile)
c.*385G>T (n.*385G>T)
n.836G>T
c.*756G>T (n.*756G>T)
c.747G>T (p.Met249Ile)
COSMIC COSMIC COSMIC
15g.26561088C>GCA391462054GABRB3c.924G>C (p.Met308Ile)
n.967G>C
c.607G>C
c.669G>C (p.Met223Ile)
c.825G>C (p.Met275Ile)
c.711G>C (p.Met237Ile)
c.1092G>C (p.Met364Ile)
c.*385G>C (n.*385G>C)
n.836G>C
c.*756G>C (n.*756G>C)
c.747G>C (p.Met249Ile)
15g.26561088C>TCA391462056GABRB3c.924G>A (p.Met308Ile)
n.967G>A
c.607G>A
c.669G>A (p.Met223Ile)
c.825G>A (p.Met275Ile)
c.711G>A (p.Met237Ile)
c.1092G>A (p.Met364Ile)
c.*385G>A (n.*385G>A)
n.836G>A
c.*756G>A (n.*756G>A)
c.747G>A (p.Met249Ile)
15g.26561089A=CA2165747081GABRB3c.923T= (p.Met308=)
n.966T=
c.606T=
c.668T= (p.Met223=)
c.824T= (p.Met275=)
c.710T= (p.Met237=)
c.1091T= (p.Met364=)
c.*384T= (n.*384T=)
n.835T=
c.*755T= (n.*755T=)
c.746T= (p.Met249=)
15g.26561089A>CCA391462060GABRB3c.923T>G (p.Met308Arg)
n.966T>G
c.606T>G
c.668T>G (p.Met223Arg)
c.824T>G (p.Met275Arg)
c.710T>G (p.Met237Arg)
c.1091T>G (p.Met364Arg)
c.*384T>G (n.*384T>G)
n.835T>G
c.*755T>G (n.*755T>G)
c.746T>G (p.Met249Arg)
ClinVar dbSNP
15g.26561089A>GCA7437339GABRB3c.923T>C (p.Met308Thr)
n.966T>C
c.606T>C
c.668T>C (p.Met223Thr)
c.824T>C (p.Met275Thr)
c.710T>C (p.Met237Thr)
c.1091T>C (p.Met364Thr)
c.*384T>C (n.*384T>C)
n.835T>C
c.*755T>C (n.*755T>C)
c.746T>C (p.Met249Thr)
dbSNP ExAC gnomAD v2 gnomAD v4
15g.26561089A>TCA391462058GABRB3c.923T>A (p.Met308Lys)
n.966T>A
c.606T>A
c.668T>A (p.Met223Lys)
c.824T>A (p.Met275Lys)
c.710T>A (p.Met237Lys)
c.1091T>A (p.Met364Lys)
c.*384T>A (n.*384T>A)
n.835T>A
c.*755T>A (n.*755T>A)
c.746T>A (p.Met249Lys)
15g.26561090T>ACA391462063GABRB3c.922A>T (p.Met308Leu)
n.965A>T
c.605A>T
c.667A>T (p.Met223Leu)
c.823A>T (p.Met275Leu)
c.709A>T (p.Met237Leu)
c.1090A>T (p.Met364Leu)
c.*383A>T (n.*383A>T)
n.834A>T
c.*754A>T (n.*754A>T)
c.745A>T (p.Met249Leu)
15g.26561090T>CCA391462065GABRB3c.922A>G (p.Met308Val)
n.965A>G
c.605A>G
c.667A>G (p.Met223Val)
c.823A>G (p.Met275Val)
c.709A>G (p.Met237Val)
c.1090A>G (p.Met364Val)
c.*383A>G (n.*383A>G)
n.834A>G
c.*754A>G (n.*754A>G)
c.745A>G (p.Met249Val)
15g.26561090T>GCA391462066GABRB3c.922A>C (p.Met308Leu)
n.965A>C
c.605A>C
c.667A>C (p.Met223Leu)
c.823A>C (p.Met275Leu)
c.709A>C (p.Met237Leu)
c.1090A>C (p.Met364Leu)
c.*383A>C (n.*383A>C)
n.834A>C
c.*754A>C (n.*754A>C)
c.745A>C (p.Met249Leu)
15g.26561091G>ACA489238750GABRB3c.921C>T (p.Asp307=)
n.964C>T
c.604C>T
c.666C>T (p.Asp222=)
c.822C>T (p.Asp274=)
c.708C>T (p.Asp236=)
c.1089C>T (p.Asp363=)
c.*382C>T (n.*382C>T)
n.833C>T
c.*753C>T (n.*753C>T)
c.744C>T (p.Asp248=)
dbSNP gnomAD v2 gnomAD v4
15g.26561091G>CCA391462067GABRB3c.921C>G (p.Asp307Glu)
n.964C>G
c.604C>G
c.666C>G (p.Asp222Glu)
c.822C>G (p.Asp274Glu)
c.708C>G (p.Asp236Glu)
c.1089C>G (p.Asp363Glu)
c.*382C>G (n.*382C>G)
n.833C>G
c.*753C>G (n.*753C>G)
c.744C>G (p.Asp248Glu)
15g.26561091G=CA2165747084GABRB3c.921C= (p.Asp307=)
n.964C=
c.604C=
c.666C= (p.Asp222=)
c.822C= (p.Asp274=)
c.708C= (p.Asp236=)
c.1089C= (p.Asp363=)
c.*382C= (n.*382C=)
n.833C=
c.*753C= (n.*753C=)
c.744C= (p.Asp248=)
15g.26561091G>TCA391462068GABRB3c.921C>A (p.Asp307Glu)
n.964C>A
c.604C>A
c.666C>A (p.Asp222Glu)
c.822C>A (p.Asp274Glu)
c.708C>A (p.Asp236Glu)
c.1089C>A (p.Asp363Glu)
c.*382C>A (n.*382C>A)
n.833C>A
c.*753C>A (n.*753C>A)
c.744C>A (p.Asp248Glu)
15g.26561092T>ACA391462081GABRB3c.920A>T (p.Asp307Val)
n.963A>T
c.603A>T
c.665A>T (p.Asp222Val)
c.821A>T (p.Asp274Val)
c.707A>T (p.Asp236Val)
c.1088A>T (p.Asp363Val)
c.*381A>T (n.*381A>T)
n.832A>T
c.*752A>T (n.*752A>T)
c.743A>T (p.Asp248Val)
15g.26561092T>CCA391462077GABRB3c.920A>G (p.Asp307Gly)
n.963A>G
c.603A>G
c.665A>G (p.Asp222Gly)
c.821A>G (p.Asp274Gly)
c.707A>G (p.Asp236Gly)
c.1088A>G (p.Asp363Gly)
c.*381A>G (n.*381A>G)
n.832A>G
c.*752A>G (n.*752A>G)
c.743A>G (p.Asp248Gly)
15g.26561092T>GCA391462078GABRB3c.920A>C (p.Asp307Ala)
n.963A>C
c.603A>C
c.665A>C (p.Asp222Ala)
c.821A>C (p.Asp274Ala)
c.707A>C (p.Asp236Ala)
c.1088A>C (p.Asp363Ala)
c.*381A>C (n.*381A>C)
n.832A>C
c.*752A>C (n.*752A>C)
c.743A>C (p.Asp248Ala)
15g.26561093C>ACA391462083GABRB3c.919G>T (p.Asp307Tyr)
n.962G>T
c.602G>T
c.664G>T (p.Asp222Tyr)
c.820G>T (p.Asp274Tyr)
c.706G>T (p.Asp236Tyr)
c.1087G>T (p.Asp363Tyr)
c.*380G>T (n.*380G>T)
n.831G>T
c.*751G>T (n.*751G>T)
c.742G>T (p.Asp248Tyr)
15g.26561093C>GCA391462085GABRB3c.919G>C (p.Asp307His)
n.962G>C
c.602G>C
c.664G>C (p.Asp222His)
c.820G>C (p.Asp274His)
c.706G>C (p.Asp236His)
c.1087G>C (p.Asp363His)
c.*380G>C (n.*380G>C)
n.831G>C
c.*751G>C (n.*751G>C)
c.742G>C (p.Asp248His)
15g.26561093C>TCA391462086GABRB3c.919G>A (p.Asp307Asn)
n.962G>A
c.602G>A
c.664G>A (p.Asp222Asn)
c.820G>A (p.Asp274Asn)
c.706G>A (p.Asp236Asn)
c.1087G>A (p.Asp363Asn)
c.*380G>A (n.*380G>A)
n.831G>A
c.*751G>A (n.*751G>A)
c.742G>A (p.Asp248Asn)
15g.26561094A=CA2165747087GABRB3c.918T= (p.Ile306=)
n.961T=
c.601T=
c.663T= (p.Ile221=)
c.819T= (p.Ile273=)
c.705T= (p.Ile235=)
c.1086T= (p.Ile362=)
c.*379T= (n.*379T=)
n.830T=
c.*750T= (n.*750T=)
c.741T= (p.Ile247=)
15g.26561094A>CCA391462087GABRB3c.918T>G (p.Ile306Met)
n.961T>G
c.601T>G
c.663T>G (p.Ile221Met)
c.819T>G (p.Ile273Met)
c.705T>G (p.Ile235Met)
c.1086T>G (p.Ile362Met)
c.*379T>G (n.*379T>G)
n.830T>G
c.*750T>G (n.*750T>G)
c.741T>G (p.Ile247Met)
15g.26561094A>GCA489238751GABRB3c.918T>C (p.Ile306=)
n.961T>C
c.601T>C
c.663T>C (p.Ile221=)
c.819T>C (p.Ile273=)
c.705T>C (p.Ile235=)
c.1086T>C (p.Ile362=)
c.*379T>C (n.*379T>C)
n.830T>C
c.*750T>C (n.*750T>C)
c.741T>C (p.Ile247=)
15g.26561094A>TCA7437340GABRB3c.918T>A (p.Ile306=)
n.961T>A
c.601T>A
c.663T>A (p.Ile221=)
c.819T>A (p.Ile273=)
c.705T>A (p.Ile235=)
c.1086T>A (p.Ile362=)
c.*379T>A (n.*379T>A)
n.830T>A
c.*750T>A (n.*750T>A)
c.741T>A (p.Ile247=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.26561095A=CA2165747090GABRB3c.917T= (p.Ile306=)
n.960T=
c.600T=
c.662T= (p.Ile221=)
c.818T= (p.Ile273=)
c.704T= (p.Ile235=)
c.1085T= (p.Ile362=)
c.*378T= (n.*378T=)
n.829T=
c.*749T= (n.*749T=)
c.740T= (p.Ile247=)
15g.26561095A>CCA391462090GABRB3c.917T>G (p.Ile306Ser)
n.960T>G
c.600T>G
c.662T>G (p.Ile221Ser)
c.818T>G (p.Ile273Ser)
c.704T>G (p.Ile235Ser)
c.1085T>G (p.Ile362Ser)
c.*378T>G (n.*378T>G)
n.829T>G
c.*749T>G (n.*749T>G)
c.740T>G (p.Ile247Ser)
15g.26561095A>GCA391462095GABRB3c.917T>C (p.Ile306Thr)
n.960T>C
c.600T>C
c.662T>C (p.Ile221Thr)
c.818T>C (p.Ile273Thr)
c.704T>C (p.Ile235Thr)
c.1085T>C (p.Ile362Thr)
c.*378T>C (n.*378T>C)
n.829T>C
c.*749T>C (n.*749T>C)
c.740T>C (p.Ile247Thr)
ClinVar dbSNP
15g.26561095A>TCA391462091GABRB3c.917T>A (p.Ile306Asn)
n.960T>A
c.600T>A
c.662T>A (p.Ile221Asn)
c.818T>A (p.Ile273Asn)
c.704T>A (p.Ile235Asn)
c.1085T>A (p.Ile362Asn)
c.*378T>A (n.*378T>A)
n.829T>A
c.*749T>A (n.*749T>A)
c.740T>A (p.Ile247Asn)
15g.26561096T>ACA391462096GABRB3c.916A>T (p.Ile306Phe)
n.959A>T
c.599A>T
c.661A>T (p.Ile221Phe)
c.817A>T (p.Ile273Phe)
c.703A>T (p.Ile235Phe)
c.1084A>T (p.Ile362Phe)
c.*377A>T (n.*377A>T)
n.828A>T
c.*748A>T (n.*748A>T)
c.739A>T (p.Ile247Phe)
15g.26561096T>CCA391462097GABRB3c.916A>G (p.Ile306Val)
n.959A>G
c.599A>G
c.661A>G (p.Ile221Val)
c.817A>G (p.Ile273Val)
c.703A>G (p.Ile235Val)
c.1084A>G (p.Ile362Val)
c.*377A>G (n.*377A>G)
n.828A>G
c.*748A>G (n.*748A>G)
c.739A>G (p.Ile247Val)
ClinVar dbSNP
15g.26561096T>GCA391462098GABRB3c.916A>C (p.Ile306Leu)
n.959A>C
c.599A>C
c.661A>C (p.Ile221Leu)
c.817A>C (p.Ile273Leu)
c.703A>C (p.Ile235Leu)
c.1084A>C (p.Ile362Leu)
c.*377A>C (n.*377A>C)
n.828A>C
c.*748A>C (n.*748A>C)
c.739A>C (p.Ile247Leu)
15g.26561096T=CA2165747096GABRB3c.916A= (p.Ile306=)
n.959A=
c.599A=
c.661A= (p.Ile221=)
c.817A= (p.Ile273=)
c.703A= (p.Ile235=)
c.1084A= (p.Ile362=)
c.*377A= (n.*377A=)
n.828A=
c.*748A= (n.*748A=)
c.739A= (p.Ile247=)
15g.26561097G>ACA489238754GABRB3c.915C>T (p.Ala305=)
n.958C>T
c.598C>T
c.660C>T (p.Ala220=)
c.816C>T (p.Ala272=)
c.702C>T (p.Ala234=)
c.1083C>T (p.Ala361=)
c.*376C>T (n.*376C>T)
n.827C>T
c.*747C>T (n.*747C>T)
c.738C>T (p.Ala246=)
ClinVar dbSNP
15g.26561097G>CCA489238752GABRB3c.915C>G (p.Ala305=)
n.958C>G
c.598C>G
c.660C>G (p.Ala220=)
c.816C>G (p.Ala272=)
c.702C>G (p.Ala234=)
c.1083C>G (p.Ala361=)
c.*376C>G (n.*376C>G)
n.827C>G
c.*747C>G (n.*747C>G)
c.738C>G (p.Ala246=)
dbSNP
15g.26561097G=CA2165747099GABRB3c.915C= (p.Ala305=)
n.958C=
c.598C=
c.660C= (p.Ala220=)
c.816C= (p.Ala272=)
c.702C= (p.Ala234=)
c.1083C= (p.Ala361=)
c.*376C= (n.*376C=)
n.827C=
c.*747C= (n.*747C=)
c.738C= (p.Ala246=)
15g.26561097G>TCA489238753GABRB3c.915C>A (p.Ala305=)
n.958C>A
c.598C>A
c.660C>A (p.Ala220=)
c.816C>A (p.Ala272=)
c.702C>A (p.Ala234=)
c.1083C>A (p.Ala361=)
c.*376C>A (n.*376C>A)
n.827C>A
c.*747C>A (n.*747C>A)
c.738C>A (p.Ala246=)
15g.26561098G>ACA391462104GABRB3c.914C>T (p.Ala305Val)
n.957C>T
c.597C>T
c.659C>T (p.Ala220Val)
c.815C>T (p.Ala272Val)
c.701C>T (p.Ala234Val)
c.1082C>T (p.Ala361Val)
c.*375C>T (n.*375C>T)
n.826C>T
c.*746C>T (n.*746C>T)
c.737C>T (p.Ala246Val)
ClinVar dbSNP
15g.26561098G>CCA391462106GABRB3c.914C>G (p.Ala305Gly)
n.957C>G
c.597C>G
c.659C>G (p.Ala220Gly)
c.815C>G (p.Ala272Gly)
c.701C>G (p.Ala234Gly)
c.1082C>G (p.Ala361Gly)
c.*375C>G (n.*375C>G)
n.826C>G
c.*746C>G (n.*746C>G)
c.737C>G (p.Ala246Gly)
15g.26561098G=CA2165747103GABRB3c.914C= (p.Ala305=)
n.957C=
c.597C=
c.659C= (p.Ala220=)
c.815C= (p.Ala272=)
c.701C= (p.Ala234=)
c.1082C= (p.Ala361=)
c.*375C= (n.*375C=)
n.826C=
c.*746C= (n.*746C=)
c.737C= (p.Ala246=)
15g.26561098G>TCA391462108GABRB3c.914C>A (p.Ala305Asp)
n.957C>A
c.597C>A
c.659C>A (p.Ala220Asp)
c.815C>A (p.Ala272Asp)
c.701C>A (p.Ala234Asp)
c.1082C>A (p.Ala361Asp)
c.*375C>A (n.*375C>A)
n.826C>A
c.*746C>A (n.*746C>A)
c.737C>A (p.Ala246Asp)
ClinVar dbSNP
15g.26561099C>ACA391462110GABRB3c.913G>T (p.Ala305Ser)
n.956G>T
c.596G>T
c.658G>T (p.Ala220Ser)
c.814G>T (p.Ala272Ser)
c.700G>T (p.Ala234Ser)
c.1081G>T (p.Ala361Ser)
c.*374G>T (n.*374G>T)
n.825G>T
c.*745G>T (n.*745G>T)
c.736G>T (p.Ala246Ser)
15g.26561099C=CA2165747109GABRB3c.913G= (p.Ala305=)
n.956G=
c.596G=
c.658G= (p.Ala220=)
c.814G= (p.Ala272=)
c.700G= (p.Ala234=)
c.1081G= (p.Ala361=)
c.*374G= (n.*374G=)
n.825G=
c.*745G= (n.*745G=)
c.736G= (p.Ala246=)
15g.26561099C>GCA391462112GABRB3c.913G>C (p.Ala305Pro)
n.956G>C
c.596G>C
c.658G>C (p.Ala220Pro)
c.814G>C (p.Ala272Pro)
c.700G>C (p.Ala234Pro)
c.1081G>C (p.Ala361Pro)
c.*374G>C (n.*374G>C)
n.825G>C
c.*745G>C (n.*745G>C)
c.736G>C (p.Ala246Pro)
15g.26561099C>TCA10586390GABRB3c.913G>A (p.Ala305Thr)
n.956G>A
c.596G>A
c.658G>A (p.Ala220Thr)
c.814G>A (p.Ala272Thr)
c.700G>A (p.Ala234Thr)
c.1081G>A (p.Ala361Thr)
c.*374G>A (n.*374G>A)
n.825G>A
c.*745G>A (n.*745G>A)
c.736G>A (p.Ala246Thr)
ClinVar dbSNP
15g.26561100T>ACA391462116GABRB3c.912A>T (p.Lys304Asn)
n.955A>T
c.595A>T
c.657A>T (p.Lys219Asn)
c.813A>T (p.Lys271Asn)
c.699A>T (p.Lys233Asn)
c.1080A>T (p.Lys360Asn)
c.*373A>T (n.*373A>T)
n.824A>T
c.*744A>T (n.*744A>T)
c.735A>T (p.Lys245Asn)
15g.26561100T>CCA489238755GABRB3c.912A>G (p.Lys304=)
n.955A>G
c.595A>G
c.657A>G (p.Lys219=)
c.813A>G (p.Lys271=)
c.699A>G (p.Lys233=)
c.1080A>G (p.Lys360=)
c.*373A>G (n.*373A>G)
n.824A>G
c.*744A>G (n.*744A>G)
c.735A>G (p.Lys245=)
gnomAD v4
15g.26561100T>GCA391462118GABRB3c.912A>C (p.Lys304Asn)
n.955A>C
c.595A>C
c.657A>C (p.Lys219Asn)
c.813A>C (p.Lys271Asn)
c.699A>C (p.Lys233Asn)
c.1080A>C (p.Lys360Asn)
c.*373A>C (n.*373A>C)
n.824A>C
c.*744A>C (n.*744A>C)
c.735A>C (p.Lys245Asn)
15g.26561101T>ACA391462121GABRB3c.911A>T (p.Lys304Ile)
n.954A>T
c.594A>T
c.656A>T (p.Lys219Ile)
c.812A>T (p.Lys271Ile)
c.698A>T (p.Lys233Ile)
c.1079A>T (p.Lys360Ile)
c.*372A>T (n.*372A>T)
n.823A>T
c.*743A>T (n.*743A>T)
c.734A>T (p.Lys245Ile)
15g.26561101T>CCA391462122GABRB3c.911A>G (p.Lys304Arg)
n.954A>G
c.594A>G
c.656A>G (p.Lys219Arg)
c.812A>G (p.Lys271Arg)
c.698A>G (p.Lys233Arg)
c.1079A>G (p.Lys360Arg)
c.*372A>G (n.*372A>G)
n.823A>G
c.*743A>G (n.*743A>G)
c.734A>G (p.Lys245Arg)
ClinVar dbSNP
15g.26561101T>GCA391462120GABRB3c.911A>C (p.Lys304Thr)
n.954A>C
c.594A>C
c.656A>C (p.Lys219Thr)
c.812A>C (p.Lys271Thr)
c.698A>C (p.Lys233Thr)
c.1079A>C (p.Lys360Thr)
c.*372A>C (n.*372A>C)
n.823A>C
c.*743A>C (n.*743A>C)
c.734A>C (p.Lys245Thr)
15g.26561101T=CA2165747113GABRB3c.911A= (p.Lys304=)
n.954A=
c.594A=
c.656A= (p.Lys219=)
c.812A= (p.Lys271=)
c.698A= (p.Lys233=)
c.1079A= (p.Lys360=)
c.*372A= (n.*372A=)
n.823A=
c.*743A= (n.*743A=)
c.734A= (p.Lys245=)
15g.26561102T>ACA391462126GABRB3c.910A>T (p.Lys304Ter)
n.953A>T
c.593A>T
c.655A>T (p.Lys219Ter)
c.811A>T (p.Lys271Ter)
c.697A>T (p.Lys233Ter)
c.1078A>T (p.Lys360Ter)
c.*371A>T (n.*371A>T)
n.822A>T
c.*742A>T (n.*742A>T)
c.733A>T (p.Lys245Ter)
15g.26561102T>CCA391462123GABRB3c.910A>G (p.Lys304Glu)
n.953A>G
c.593A>G
c.655A>G (p.Lys219Glu)
c.811A>G (p.Lys271Glu)
c.697A>G (p.Lys233Glu)
c.1078A>G (p.Lys360Glu)
c.*371A>G (n.*371A>G)
n.822A>G
c.*742A>G (n.*742A>G)
c.733A>G (p.Lys245Glu)
ClinVar dbSNP
15g.26561102T>GCA391462125GABRB3c.910A>C (p.Lys304Gln)
n.953A>C
c.593A>C
c.655A>C (p.Lys219Gln)
c.811A>C (p.Lys271Gln)
c.697A>C (p.Lys233Gln)
c.1078A>C (p.Lys360Gln)
c.*371A>C (n.*371A>C)
n.822A>C
c.*742A>C (n.*742A>C)
c.733A>C (p.Lys245Gln)
COSMIC COSMIC COSMIC
15g.26561102T=CA2165747116GABRB3c.910A= (p.Lys304=)
n.953A=
c.593A=
c.655A= (p.Lys219=)
c.811A= (p.Lys271=)
c.697A= (p.Lys233=)
c.1078A= (p.Lys360=)
c.*371A= (n.*371A=)
n.822A=
c.*742A= (n.*742A=)
c.733A= (p.Lys245=)
15g.26561103G>ACA489238757GABRB3c.909C>T (p.Val303=)
n.952C>T
c.592C>T
c.654C>T (p.Val218=)
c.810C>T (p.Val270=)
c.696C>T (p.Val232=)
c.1077C>T (p.Val359=)
c.*370C>T (n.*370C>T)
n.821C>T
c.*741C>T (n.*741C>T)
c.732C>T (p.Val244=)
COSMIC COSMIC COSMIC
15g.26561103G>CCA489238756GABRB3c.909C>G (p.Val303=)
n.952C>G
c.592C>G
c.654C>G (p.Val218=)
c.810C>G (p.Val270=)
c.696C>G (p.Val232=)
c.1077C>G (p.Val359=)
c.*370C>G (n.*370C>G)
n.821C>G
c.*741C>G (n.*741C>G)
c.732C>G (p.Val244=)
15g.26561103G>TCA489238758GABRB3c.909C>A (p.Val303=)
n.952C>A
c.592C>A
c.654C>A (p.Val218=)
c.810C>A (p.Val270=)
c.696C>A (p.Val232=)
c.1077C>A (p.Val359=)
c.*370C>A (n.*370C>A)
n.821C>A
c.*741C>A (n.*741C>A)
c.732C>A (p.Val244=)
15g.26561104A>CCA391462128GABRB3c.908T>G (p.Val303Gly)
n.951T>G
c.591T>G
c.653T>G (p.Val218Gly)
c.809T>G (p.Val270Gly)
c.695T>G (p.Val232Gly)
c.1076T>G (p.Val359Gly)
c.*369T>G (n.*369T>G)
n.820T>G
c.*740T>G (n.*740T>G)
c.731T>G (p.Val244Gly)
15g.26561104A>GCA391462130GABRB3c.908T>C (p.Val303Ala)
n.951T>C
c.591T>C
c.653T>C (p.Val218Ala)
c.809T>C (p.Val270Ala)
c.695T>C (p.Val232Ala)
c.1076T>C (p.Val359Ala)
c.*369T>C (n.*369T>C)
n.820T>C
c.*740T>C (n.*740T>C)
c.731T>C (p.Val244Ala)
15g.26561104A>TCA391462131GABRB3c.908T>A (p.Val303Asp)
n.951T>A
c.591T>A
c.653T>A (p.Val218Asp)
c.809T>A (p.Val270Asp)
c.695T>A (p.Val232Asp)
c.1076T>A (p.Val359Asp)
c.*369T>A (n.*369T>A)
n.820T>A
c.*740T>A (n.*740T>A)
c.731T>A (p.Val244Asp)
15g.26561105C>ACA391462132GABRB3c.907G>T (p.Val303Phe)
n.950G>T
c.590G>T
c.652G>T (p.Val218Phe)
c.808G>T (p.Val270Phe)
c.694G>T (p.Val232Phe)
c.1075G>T (p.Val359Phe)
c.*368G>T (n.*368G>T)
n.819G>T
c.*739G>T (n.*739G>T)
c.730G>T (p.Val244Phe)
15g.26561105C>GCA391462134GABRB3c.907G>C (p.Val303Leu)
n.950G>C
c.590G>C
c.652G>C (p.Val218Leu)
c.808G>C (p.Val270Leu)
c.694G>C (p.Val232Leu)
c.1075G>C (p.Val359Leu)
c.*368G>C (n.*368G>C)
n.819G>C
c.*739G>C (n.*739G>C)
c.730G>C (p.Val244Leu)
15g.26561105C>TCA391462135GABRB3c.907G>A (p.Val303Ile)
n.950G>A
c.590G>A
c.652G>A (p.Val218Ile)
c.808G>A (p.Val270Ile)
c.694G>A (p.Val232Ile)
c.1075G>A (p.Val359Ile)
c.*368G>A (n.*368G>A)
n.819G>A
c.*739G>A (n.*739G>A)
c.730G>A (p.Val244Ile)
15g.26561106A=CA2165747120GABRB3c.906T= (p.Tyr302=)
n.949T=
c.589T=
c.651T= (p.Tyr217=)
c.807T= (p.Tyr269=)
c.693T= (p.Tyr231=)
c.1074T= (p.Tyr358=)
c.*367T= (n.*367T=)
n.818T=
c.*738T= (n.*738T=)
c.729T= (p.Tyr243=)
15g.26561106A>CCA391462142GABRB3c.906T>G (p.Tyr302Ter)
n.949T>G
c.589T>G
c.651T>G (p.Tyr217Ter)
c.807T>G (p.Tyr269Ter)
c.693T>G (p.Tyr231Ter)
c.1074T>G (p.Tyr358Ter)
c.*367T>G (n.*367T>G)
n.818T>G
c.*738T>G (n.*738T>G)
c.729T>G (p.Tyr243Ter)
15g.26561106A>GCA489238759GABRB3c.906T>C (p.Tyr302=)
n.949T>C
c.589T>C
c.651T>C (p.Tyr217=)
c.807T>C (p.Tyr269=)
c.693T>C (p.Tyr231=)
c.1074T>C (p.Tyr358=)
c.*367T>C (n.*367T>C)
n.818T>C
c.*738T>C (n.*738T>C)
c.729T>C (p.Tyr243=)
dbSNP gnomAD v2 gnomAD v4
15g.26561106A>TCA391462143GABRB3c.906T>A (p.Tyr302Ter)
n.949T>A
c.589T>A
c.651T>A (p.Tyr217Ter)
c.807T>A (p.Tyr269Ter)
c.693T>A (p.Tyr231Ter)
c.1074T>A (p.Tyr358Ter)
c.*367T>A (n.*367T>A)
n.818T>A
c.*738T>A (n.*738T>A)
c.729T>A (p.Tyr243Ter)
15g.26561107T>ACA391462144GABRB3c.905A>T (p.Tyr302Phe)
n.948A>T
c.588A>T
c.650A>T (p.Tyr217Phe)
c.806A>T (p.Tyr269Phe)
c.692A>T (p.Tyr231Phe)
c.1073A>T (p.Tyr358Phe)
c.*366A>T (n.*366A>T)
n.817A>T
c.*737A>T (n.*737A>T)
c.728A>T (p.Tyr243Phe)
15g.26561107T>CCA391462145GABRB3c.905A>G (p.Tyr302Cys)
n.948A>G
c.588A>G
c.650A>G (p.Tyr217Cys)
c.806A>G (p.Tyr269Cys)
c.692A>G (p.Tyr231Cys)
c.1073A>G (p.Tyr358Cys)
c.*366A>G (n.*366A>G)
n.817A>G
c.*737A>G (n.*737A>G)
c.728A>G (p.Tyr243Cys)
ClinVar dbSNP
15g.26561107T>GCA391462146GABRB3c.905A>C (p.Tyr302Ser)
n.948A>C
c.588A>C
c.650A>C (p.Tyr217Ser)
c.806A>C (p.Tyr269Ser)
c.692A>C (p.Tyr231Ser)
c.1073A>C (p.Tyr358Ser)
c.*366A>C (n.*366A>C)
n.817A>C
c.*737A>C (n.*737A>C)
c.728A>C (p.Tyr243Ser)
gnomAD v4
15g.26561107T=CA2165747124GABRB3c.905A= (p.Tyr302=)
n.948A=
c.588A=
c.650A= (p.Tyr217=)
c.806A= (p.Tyr269=)
c.692A= (p.Tyr231=)
c.1073A= (p.Tyr358=)
c.*366A= (n.*366A=)
n.817A=
c.*737A= (n.*737A=)
c.728A= (p.Tyr243=)
15g.26561108A>CCA391462148GABRB3c.904T>G (p.Tyr302Asp)
n.947T>G
c.587T>G
c.649T>G (p.Tyr217Asp)
c.805T>G (p.Tyr269Asp)
c.691T>G (p.Tyr231Asp)
c.1072T>G (p.Tyr358Asp)
c.*365T>G (n.*365T>G)
n.816T>G
c.*736T>G (n.*736T>G)
c.727T>G (p.Tyr243Asp)
15g.26561108A>GCA391462151GABRB3c.904T>C (p.Tyr302His)
n.947T>C
c.587T>C
c.649T>C (p.Tyr217His)
c.805T>C (p.Tyr269His)
c.691T>C (p.Tyr231His)
c.1072T>C (p.Tyr358His)
c.*365T>C (n.*365T>C)
n.816T>C
c.*736T>C (n.*736T>C)
c.727T>C (p.Tyr243His)
15g.26561108A>TCA391462150GABRB3c.904T>A (p.Tyr302Asn)
n.947T>A
c.587T>A
c.649T>A (p.Tyr217Asn)
c.805T>A (p.Tyr269Asn)
c.691T>A (p.Tyr231Asn)
c.1072T>A (p.Tyr358Asn)
c.*365T>A (n.*365T>A)
n.816T>A
c.*736T>A (n.*736T>A)
c.727T>A (p.Tyr243Asn)
15g.26561108_26561146dupCA2740097231GABRB3c.866_904dup (p.Pro301_Tyr302insPheAsnThrHisLeuArgGluThrLeuProLysIlePro)
n.909_947dup
c.549_587dup
c.611_649dup (p.Pro216_Tyr217insPheAsnThrHisLeuArgGluThrLeuProLysIlePro)
c.767_805dup (p.Pro268_Tyr269insPheAsnThrHisLeuArgGluThrLeuProLysIlePro)
c.653_691dup (p.Pro230_Tyr231insPheAsnThrHisLeuArgGluThrLeuProLysIlePro)
c.1034_1072dup (p.Pro357_Tyr358insPheAsnThrHisLeuArgGluThrLeuProLysIlePro)
c.*327_*365dup (n.*327_*365dup)
n.778_816dup
c.*698_*736dup (n.*698_*736dup)
c.689_727dup (p.Pro242_Tyr243insPheAsnThrHisLeuArgGluThrLeuProLysIlePro)
ClinVar
15g.26561109G>ACA489238760GABRB3c.903C>T (p.Pro301=)
n.946C>T
c.586C>T
c.648C>T (p.Pro216=)
c.804C>T (p.Pro268=)
c.690C>T (p.Pro230=)
c.1071C>T (p.Pro357=)
c.*364C>T (n.*364C>T)
n.815C>T
c.*735C>T (n.*735C>T)
c.726C>T (p.Pro242=)
15g.26561109G>CCA489238762GABRB3c.903C>G (p.Pro301=)
n.946C>G
c.586C>G
c.648C>G (p.Pro216=)
c.804C>G (p.Pro268=)
c.690C>G (p.Pro230=)
c.1071C>G (p.Pro357=)
c.*364C>G (n.*364C>G)
n.815C>G
c.*735C>G (n.*735C>G)
c.726C>G (p.Pro242=)
15g.26561109G>TCA489238761GABRB3c.903C>A (p.Pro301=)
n.946C>A
c.586C>A
c.648C>A (p.Pro216=)
c.804C>A (p.Pro268=)
c.690C>A (p.Pro230=)
c.1071C>A (p.Pro357=)
c.*364C>A (n.*364C>A)
n.815C>A
c.*735C>A (n.*735C>A)
c.726C>A (p.Pro242=)
15g.26561110G>ACA391462154GABRB3c.902C>T (p.Pro301Leu)
n.945C>T
c.585C>T
c.647C>T (p.Pro216Leu)
c.803C>T (p.Pro268Leu)
c.689C>T (p.Pro230Leu)
c.1070C>T (p.Pro357Leu)
c.*363C>T (n.*363C>T)
n.814C>T
c.*734C>T (n.*734C>T)
c.725C>T (p.Pro242Leu)
ClinVar dbSNP COSMIC COSMIC COSMIC
15g.26561110G>CCA391462156GABRB3c.902C>G (p.Pro301Arg)
n.945C>G
c.585C>G
c.647C>G (p.Pro216Arg)
c.803C>G (p.Pro268Arg)
c.689C>G (p.Pro230Arg)
c.1070C>G (p.Pro357Arg)
c.*363C>G (n.*363C>G)
n.814C>G
c.*734C>G (n.*734C>G)
c.725C>G (p.Pro242Arg)
15g.26561110G=CA2165747130GABRB3c.902C= (p.Pro301=)
n.945C=
c.585C=
c.647C= (p.Pro216=)
c.803C= (p.Pro268=)
c.689C= (p.Pro230=)
c.1070C= (p.Pro357=)
c.*363C= (n.*363C=)
n.814C=
c.*734C= (n.*734C=)
c.725C= (p.Pro242=)
15g.26561110G>TCA391462157GABRB3c.902C>A (p.Pro301His)
n.945C>A
c.585C>A
c.647C>A (p.Pro216His)
c.803C>A (p.Pro268His)
c.689C>A (p.Pro230His)
c.1070C>A (p.Pro357His)
c.*363C>A (n.*363C>A)
n.814C>A
c.*734C>A (n.*734C>A)
c.725C>A (p.Pro242His)
dbSNP
15g.26561111G>ACA391462162GABRB3c.901C>T (p.Pro301Ser)
n.944C>T
c.584C>T
c.646C>T (p.Pro216Ser)
c.802C>T (p.Pro268Ser)
c.688C>T (p.Pro230Ser)
c.1069C>T (p.Pro357Ser)
c.*362C>T (n.*362C>T)
n.813C>T
c.*733C>T (n.*733C>T)
c.724C>T (p.Pro242Ser)
ClinVar dbSNP COSMIC COSMIC COSMIC
15g.26561111G>CCA391462165GABRB3c.901C>G (p.Pro301Ala)
n.944C>G
c.584C>G
c.646C>G (p.Pro216Ala)
c.802C>G (p.Pro268Ala)
c.688C>G (p.Pro230Ala)
c.1069C>G (p.Pro357Ala)
c.*362C>G (n.*362C>G)
n.813C>G
c.*733C>G (n.*733C>G)
c.724C>G (p.Pro242Ala)
ClinVar dbSNP
15g.26561111G=CA2165747144GABRB3c.901C= (p.Pro301=)
n.944C=
c.584C=
c.646C= (p.Pro216=)
c.802C= (p.Pro268=)
c.688C= (p.Pro230=)
c.1069C= (p.Pro357=)
c.*362C= (n.*362C=)
n.813C=
c.*733C= (n.*733C=)
c.724C= (p.Pro242=)
15g.26561111G>TCA391462167GABRB3c.901C>A (p.Pro301Thr)
n.944C>A
c.584C>A
c.646C>A (p.Pro216Thr)
c.802C>A (p.Pro268Thr)
c.688C>A (p.Pro230Thr)
c.1069C>A (p.Pro357Thr)
c.*362C>A (n.*362C>A)
n.813C>A
c.*733C>A (n.*733C>A)
c.724C>A (p.Pro242Thr)
15g.26561112G>ACA489238763GABRB3c.900C>T (p.Ile300=)
n.943C>T
c.583C>T
c.645C>T (p.Ile215=)
c.801C>T (p.Ile267=)
c.687C>T (p.Ile229=)
c.1068C>T (p.Ile356=)
c.*361C>T (n.*361C>T)
n.812C>T
c.*732C>T (n.*732C>T)
c.723C>T (p.Ile241=)
COSMIC COSMIC COSMIC
15g.26561112G>CCA391462170GABRB3c.900C>G (p.Ile300Met)
n.943C>G
c.583C>G
c.645C>G (p.Ile215Met)
c.801C>G (p.Ile267Met)
c.687C>G (p.Ile229Met)
c.1068C>G (p.Ile356Met)
c.*361C>G (n.*361C>G)
n.812C>G
c.*732C>G (n.*732C>G)
c.723C>G (p.Ile241Met)
15g.26561112G>TCA489238764GABRB3c.900C>A (p.Ile300=)
n.943C>A
c.583C>A
c.645C>A (p.Ile215=)
c.801C>A (p.Ile267=)
c.687C>A (p.Ile229=)
c.1068C>A (p.Ile356=)
c.*361C>A (n.*361C>A)
n.812C>A
c.*732C>A (n.*732C>A)
c.723C>A (p.Ile241=)
15g.26561113A>CCA391462178GABRB3c.899T>G (p.Ile300Ser)
n.942T>G
c.582T>G
c.644T>G (p.Ile215Ser)
c.800T>G (p.Ile267Ser)
c.686T>G (p.Ile229Ser)
c.1067T>G (p.Ile356Ser)
c.*360T>G (n.*360T>G)
n.811T>G
c.*731T>G (n.*731T>G)
c.722T>G (p.Ile241Ser)
15g.26561113A>GCA391462179GABRB3c.899T>C (p.Ile300Thr)
n.942T>C
c.582T>C
c.644T>C (p.Ile215Thr)
c.800T>C (p.Ile267Thr)
c.686T>C (p.Ile229Thr)
c.1067T>C (p.Ile356Thr)
c.*360T>C (n.*360T>C)
n.811T>C
c.*731T>C (n.*731T>C)
c.722T>C (p.Ile241Thr)
15g.26561113A>TCA391462181GABRB3c.899T>A (p.Ile300Asn)
n.942T>A
c.582T>A
c.644T>A (p.Ile215Asn)
c.800T>A (p.Ile267Asn)
c.686T>A (p.Ile229Asn)
c.1067T>A (p.Ile356Asn)
c.*360T>A (n.*360T>A)
n.811T>A
c.*731T>A (n.*731T>A)
c.722T>A (p.Ile241Asn)
15g.26561114T>ACA391462184GABRB3c.898A>T (p.Ile300Phe)
n.941A>T
c.581A>T
c.643A>T (p.Ile215Phe)
c.799A>T (p.Ile267Phe)
c.685A>T (p.Ile229Phe)
c.1066A>T (p.Ile356Phe)
c.*359A>T (n.*359A>T)
n.810A>T
c.*730A>T (n.*730A>T)
c.721A>T (p.Ile241Phe)
15g.26561114T>CCA391462185GABRB3c.898A>G (p.Ile300Val)
n.941A>G
c.581A>G
c.643A>G (p.Ile215Val)
c.799A>G (p.Ile267Val)
c.685A>G (p.Ile229Val)
c.1066A>G (p.Ile356Val)
c.*359A>G (n.*359A>G)
n.810A>G
c.*730A>G (n.*730A>G)
c.721A>G (p.Ile241Val)
ClinVar dbSNP
15g.26561114T>GCA391462182GABRB3c.898A>C (p.Ile300Leu)
n.941A>C
c.581A>C
c.643A>C (p.Ile215Leu)
c.799A>C (p.Ile267Leu)
c.685A>C (p.Ile229Leu)
c.1066A>C (p.Ile356Leu)
c.*359A>C (n.*359A>C)
n.810A>C
c.*730A>C (n.*730A>C)
c.721A>C (p.Ile241Leu)
ClinVar dbSNP
15g.26561114T=CA2165747149GABRB3c.898A= (p.Ile300=)
n.941A=
c.581A=
c.643A= (p.Ile215=)
c.799A= (p.Ile267=)
c.685A= (p.Ile229=)
c.1066A= (p.Ile356=)
c.*359A= (n.*359A=)
n.810A=
c.*730A= (n.*730A=)
c.721A= (p.Ile241=)
15g.26561115T>ACA391462186GABRB3c.897A>T (p.Lys299Asn)
n.940A>T
c.580A>T
c.642A>T (p.Lys214Asn)
c.798A>T (p.Lys266Asn)
c.684A>T (p.Lys228Asn)
c.1065A>T (p.Lys355Asn)
c.*358A>T (n.*358A>T)
n.809A>T
c.*729A>T (n.*729A>T)
c.720A>T (p.Lys240Asn)
15g.26561115T>CCA489238765GABRB3c.897A>G (p.Lys299=)
n.940A>G
c.580A>G
c.642A>G (p.Lys214=)
c.798A>G (p.Lys266=)
c.684A>G (p.Lys228=)
c.1065A>G (p.Lys355=)
c.*358A>G (n.*358A>G)
n.809A>G
c.*729A>G (n.*729A>G)
c.720A>G (p.Lys240=)
15g.26561115T>GCA391462187GABRB3c.897A>C (p.Lys299Asn)
n.940A>C
c.580A>C
c.642A>C (p.Lys214Asn)
c.798A>C (p.Lys266Asn)
c.684A>C (p.Lys228Asn)
c.1065A>C (p.Lys355Asn)
c.*358A>C (n.*358A>C)
n.809A>C
c.*729A>C (n.*729A>C)
c.720A>C (p.Lys240Asn)
15g.26561116T>ACA391462188GABRB3c.896A>T (p.Lys299Ile)
n.939A>T
c.579A>T
c.641A>T (p.Lys214Ile)
c.797A>T (p.Lys266Ile)
c.683A>T (p.Lys228Ile)
c.1064A>T (p.Lys355Ile)
c.*357A>T (n.*357A>T)
n.808A>T
c.*728A>T (n.*728A>T)
c.719A>T (p.Lys240Ile)
15g.26561116T>CCA391462189GABRB3c.896A>G (p.Lys299Arg)
n.939A>G
c.579A>G
c.641A>G (p.Lys214Arg)
c.797A>G (p.Lys266Arg)
c.683A>G (p.Lys228Arg)
c.1064A>G (p.Lys355Arg)
c.*357A>G (n.*357A>G)
n.808A>G
c.*728A>G (n.*728A>G)
c.719A>G (p.Lys240Arg)
ClinVar
15g.26561116T>GCA391462190GABRB3c.896A>C (p.Lys299Thr)
n.939A>C
c.579A>C
c.641A>C (p.Lys214Thr)
c.797A>C (p.Lys266Thr)
c.683A>C (p.Lys228Thr)
c.1064A>C (p.Lys355Thr)
c.*357A>C (n.*357A>C)
n.808A>C
c.*728A>C (n.*728A>C)
c.719A>C (p.Lys240Thr)
15g.26561117T>ACA391462192GABRB3c.895A>T (p.Lys299Ter)
n.938A>T
c.578A>T
c.640A>T (p.Lys214Ter)
c.796A>T (p.Lys266Ter)
c.682A>T (p.Lys228Ter)
c.1063A>T (p.Lys355Ter)
c.*356A>T (n.*356A>T)
n.807A>T
c.*727A>T (n.*727A>T)
c.718A>T (p.Lys240Ter)
15g.26561117T>CCA391462194GABRB3c.895A>G (p.Lys299Glu)
n.938A>G
c.578A>G
c.640A>G (p.Lys214Glu)
c.796A>G (p.Lys266Glu)
c.682A>G (p.Lys228Glu)
c.1063A>G (p.Lys355Glu)
c.*356A>G (n.*356A>G)
n.807A>G
c.*727A>G (n.*727A>G)
c.718A>G (p.Lys240Glu)
15g.26561117T>GCA391462195GABRB3c.895A>C (p.Lys299Gln)
n.938A>C
c.578A>C
c.640A>C (p.Lys214Gln)
c.796A>C (p.Lys266Gln)
c.682A>C (p.Lys228Gln)
c.1063A>C (p.Lys355Gln)
c.*356A>C (n.*356A>C)
n.807A>C
c.*727A>C (n.*727A>C)
c.718A>C (p.Lys240Gln)
ClinVar dbSNP
15g.26561117T=CA2165747156GABRB3c.895A= (p.Lys299=)
n.938A=
c.578A=
c.640A= (p.Lys214=)
c.796A= (p.Lys266=)
c.682A= (p.Lys228=)
c.1063A= (p.Lys355=)
c.*356A= (n.*356A=)
n.807A=
c.*727A= (n.*727A=)
c.718A= (p.Lys240=)
15g.26561118G>ACA7437341GABRB3c.894C>T (p.Pro298=)
n.937C>T
c.577C>T
c.639C>T (p.Pro213=)
c.795C>T (p.Pro265=)
c.681C>T (p.Pro227=)
c.1062C>T (p.Pro354=)
c.*355C>T (n.*355C>T)
n.806C>T
c.*726C>T (n.*726C>T)
c.717C>T (p.Pro239=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.26561118G>CCA489238766GABRB3c.894C>G (p.Pro298=)
n.937C>G
c.577C>G
c.639C>G (p.Pro213=)
c.795C>G (p.Pro265=)
c.681C>G (p.Pro227=)
c.1062C>G (p.Pro354=)
c.*355C>G (n.*355C>G)
n.806C>G
c.*726C>G (n.*726C>G)
c.717C>G (p.Pro239=)
gnomAD v4
15g.26561118G=CA2165747159GABRB3c.894C= (p.Pro298=)
n.937C=
c.577C=
c.639C= (p.Pro213=)
c.795C= (p.Pro265=)
c.681C= (p.Pro227=)
c.1062C= (p.Pro354=)
c.*355C= (n.*355C=)
n.806C=
c.*726C= (n.*726C=)
c.717C= (p.Pro239=)
15g.26561118G>TCA489238767GABRB3c.894C>A (p.Pro298=)
n.937C>A
c.577C>A
c.639C>A (p.Pro213=)
c.795C>A (p.Pro265=)
c.681C>A (p.Pro227=)
c.1062C>A (p.Pro354=)
c.*355C>A (n.*355C>A)
n.806C>A
c.*726C>A (n.*726C>A)
c.717C>A (p.Pro239=)
15g.26561119G>ACA391462197GABRB3c.893C>T (p.Pro298Leu)
n.936C>T
c.576C>T
c.638C>T (p.Pro213Leu)
c.794C>T (p.Pro265Leu)
c.680C>T (p.Pro227Leu)
c.1061C>T (p.Pro354Leu)
c.*354C>T (n.*354C>T)
n.805C>T
c.*725C>T (n.*725C>T)
c.716C>T (p.Pro239Leu)
15g.26561119G>CCA391462199GABRB3c.893C>G (p.Pro298Arg)
n.936C>G
c.576C>G
c.638C>G (p.Pro213Arg)
c.794C>G (p.Pro265Arg)
c.680C>G (p.Pro227Arg)
c.1061C>G (p.Pro354Arg)
c.*354C>G (n.*354C>G)
n.805C>G
c.*725C>G (n.*725C>G)
c.716C>G (p.Pro239Arg)
15g.26561119G>TCA391462201GABRB3c.893C>A (p.Pro298His)
n.936C>A
c.576C>A
c.638C>A (p.Pro213His)
c.794C>A (p.Pro265His)
c.680C>A (p.Pro227His)
c.1061C>A (p.Pro354His)
c.*354C>A (n.*354C>A)
n.805C>A
c.*725C>A (n.*725C>A)
c.716C>A (p.Pro239His)
15g.26561120G>ACA391462204GABRB3c.892C>T (p.Pro298Ser)
n.935C>T
c.575C>T
c.637C>T (p.Pro213Ser)
c.793C>T (p.Pro265Ser)
c.679C>T (p.Pro227Ser)
c.1060C>T (p.Pro354Ser)
c.*353C>T (n.*353C>T)
n.804C>T
c.*724C>T (n.*724C>T)
c.715C>T (p.Pro239Ser)
ClinVar
15g.26561120G>CCA391462205GABRB3c.892C>G (p.Pro298Ala)
n.935C>G
c.575C>G
c.637C>G (p.Pro213Ala)
c.793C>G (p.Pro265Ala)
c.679C>G (p.Pro227Ala)
c.1060C>G (p.Pro354Ala)
c.*353C>G (n.*353C>G)
n.804C>G
c.*724C>G (n.*724C>G)
c.715C>G (p.Pro239Ala)
15g.26561120G>TCA391462203GABRB3c.892C>A (p.Pro298Thr)
n.935C>A
c.575C>A
c.637C>A (p.Pro213Thr)
c.793C>A (p.Pro265Thr)
c.679C>A (p.Pro227Thr)
c.1060C>A (p.Pro354Thr)
c.*353C>A (n.*353C>A)
n.804C>A
c.*724C>A (n.*724C>A)
c.715C>A (p.Pro239Thr)
15g.26561121C>ACA391462206GABRB3c.891G>T (p.Leu297Phe)
n.934G>T
c.574G>T
c.636G>T (p.Leu212Phe)
c.792G>T (p.Leu264Phe)
c.678G>T (p.Leu226Phe)
c.1059G>T (p.Leu353Phe)
c.*352G>T (n.*352G>T)
n.803G>T
c.*723G>T (n.*723G>T)
c.714G>T (p.Leu238Phe)
15g.26561121C>GCA391462208GABRB3c.891G>C (p.Leu297Phe)
n.934G>C
c.574G>C
c.636G>C (p.Leu212Phe)
c.792G>C (p.Leu264Phe)
c.678G>C (p.Leu226Phe)
c.1059G>C (p.Leu353Phe)
c.*352G>C (n.*352G>C)
n.803G>C
c.*723G>C (n.*723G>C)
c.714G>C (p.Leu238Phe)
15g.26561121C>TCA489238768GABRB3c.891G>A (p.Leu297=)
n.934G>A
c.574G>A
c.636G>A (p.Leu212=)
c.792G>A (p.Leu264=)
c.678G>A (p.Leu226=)
c.1059G>A (p.Leu353=)
c.*352G>A (n.*352G>A)
n.803G>A
c.*723G>A (n.*723G>A)
c.714G>A (p.Leu238=)
gnomAD v4
15g.26561122A>CCA391462213GABRB3c.890T>G (p.Leu297Trp)
n.933T>G
c.573T>G
c.635T>G (p.Leu212Trp)
c.791T>G (p.Leu264Trp)
c.677T>G (p.Leu226Trp)
c.1058T>G (p.Leu353Trp)
c.*351T>G (n.*351T>G)
n.802T>G
c.*722T>G (n.*722T>G)
c.713T>G (p.Leu238Trp)
15g.26561122A>GCA391462219GABRB3c.890T>C (p.Leu297Ser)
n.933T>C
c.573T>C
c.635T>C (p.Leu212Ser)
c.791T>C (p.Leu264Ser)
c.677T>C (p.Leu226Ser)
c.1058T>C (p.Leu353Ser)
c.*351T>C (n.*351T>C)
n.802T>C
c.*722T>C (n.*722T>C)
c.713T>C (p.Leu238Ser)
15g.26561122A>TCA391462220GABRB3c.890T>A (p.Leu297Ter)
n.933T>A
c.573T>A
c.635T>A (p.Leu212Ter)
c.791T>A (p.Leu264Ter)
c.677T>A (p.Leu226Ter)
c.1058T>A (p.Leu353Ter)
c.*351T>A (n.*351T>A)
n.802T>A
c.*722T>A (n.*722T>A)
c.713T>A (p.Leu238Ter)
15g.26561123A>CCA391462223GABRB3c.889T>G (p.Leu297Val)
n.932T>G
c.572T>G
c.634T>G (p.Leu212Val)
c.790T>G (p.Leu264Val)
c.676T>G (p.Leu226Val)
c.1057T>G (p.Leu353Val)
c.*350T>G (n.*350T>G)
n.801T>G
c.*721T>G (n.*721T>G)
n.560T>G
c.712T>G (p.Leu238Val)
15g.26561123A>GCA489238769GABRB3c.889T>C (p.Leu297=)
n.932T>C
c.572T>C
c.634T>C (p.Leu212=)
c.790T>C (p.Leu264=)
c.676T>C (p.Leu226=)
c.1057T>C (p.Leu353=)
c.*350T>C (n.*350T>C)
n.801T>C
c.*721T>C (n.*721T>C)
n.560T>C
c.712T>C (p.Leu238=)
15g.26561123A>TCA391462230GABRB3c.889T>A (p.Leu297Met)
n.932T>A
c.572T>A
c.634T>A (p.Leu212Met)
c.790T>A (p.Leu264Met)
c.676T>A (p.Leu226Met)
c.1057T>A (p.Leu353Met)
c.*350T>A (n.*350T>A)
n.801T>A
c.*721T>A (n.*721T>A)
n.560T>A
c.712T>A (p.Leu238Met)
15g.26561124G>ACA489238772GABRB3c.888C>T (p.Thr296=)
n.931C>T
c.571C>T
c.633C>T (p.Thr211=)
c.789C>T (p.Thr263=)
c.675C>T (p.Thr225=)
c.1056C>T (p.Thr352=)
c.*349C>T (n.*349C>T)
n.800C>T
c.*720C>T (n.*720C>T)
n.559C>T
c.711C>T (p.Thr237=)
15g.26561124G>CCA489238770GABRB3c.888C>G (p.Thr296=)
n.931C>G
c.571C>G
c.633C>G (p.Thr211=)
c.789C>G (p.Thr263=)
c.675C>G (p.Thr225=)
c.1056C>G (p.Thr352=)
c.*349C>G (n.*349C>G)
n.800C>G
c.*720C>G (n.*720C>G)
n.559C>G
c.711C>G (p.Thr237=)
15g.26561124G>TCA489238771GABRB3c.888C>A (p.Thr296=)
n.931C>A
c.571C>A
c.633C>A (p.Thr211=)
c.789C>A (p.Thr263=)
c.675C>A (p.Thr225=)
c.1056C>A (p.Thr352=)
c.*349C>A (n.*349C>A)
n.800C>A
c.*720C>A (n.*720C>A)
n.559C>A
c.711C>A (p.Thr237=)
COSMIC COSMIC COSMIC
15g.26561125G>ACA391462232GABRB3c.887C>T (p.Thr296Ile)
n.930C>T
c.570C>T
c.632C>T (p.Thr211Ile)
c.788C>T (p.Thr263Ile)
c.674C>T (p.Thr225Ile)
c.1055C>T (p.Thr352Ile)
c.*348C>T (n.*348C>T)
n.799C>T
c.*719C>T (n.*719C>T)
n.558C>T
c.710C>T (p.Thr237Ile)
15g.26561125G>CCA391462235GABRB3c.887C>G (p.Thr296Ser)
n.930C>G
c.570C>G
c.632C>G (p.Thr211Ser)
c.788C>G (p.Thr263Ser)
c.674C>G (p.Thr225Ser)
c.1055C>G (p.Thr352Ser)
c.*348C>G (n.*348C>G)
n.799C>G
c.*719C>G (n.*719C>G)
n.558C>G
c.710C>G (p.Thr237Ser)
15g.26561125G>TCA391462233GABRB3c.887C>A (p.Thr296Asn)
n.930C>A
c.570C>A
c.632C>A (p.Thr211Asn)
c.788C>A (p.Thr263Asn)
c.674C>A (p.Thr225Asn)
c.1055C>A (p.Thr352Asn)
c.*348C>A (n.*348C>A)
n.799C>A
c.*719C>A (n.*719C>A)
n.558C>A
c.710C>A (p.Thr237Asn)
15g.26561126T>ACA391462239GABRB3c.886A>T (p.Thr296Ser)
n.929A>T
c.569A>T
c.631A>T (p.Thr211Ser)
c.787A>T (p.Thr263Ser)
c.673A>T (p.Thr225Ser)
c.1054A>T (p.Thr352Ser)
c.*347A>T (n.*347A>T)
n.798A>T
c.*718A>T (n.*718A>T)
n.557A>T
c.709A>T (p.Thr237Ser)
15g.26561126T>CCA391462241GABRB3c.886A>G (p.Thr296Ala)
n.929A>G
c.569A>G
c.631A>G (p.Thr211Ala)
c.787A>G (p.Thr263Ala)
c.673A>G (p.Thr225Ala)
c.1054A>G (p.Thr352Ala)
c.*347A>G (n.*347A>G)
n.798A>G
c.*718A>G (n.*718A>G)
n.557A>G
c.709A>G (p.Thr237Ala)
15g.26561126T>GCA391462243GABRB3c.886A>C (p.Thr296Pro)
n.929A>C
c.569A>C
c.631A>C (p.Thr211Pro)
c.787A>C (p.Thr263Pro)
c.673A>C (p.Thr225Pro)
c.1054A>C (p.Thr352Pro)
c.*347A>C (n.*347A>C)
n.798A>C
c.*718A>C (n.*718A>C)
n.557A>C
c.709A>C (p.Thr237Pro)
15g.26561127C>ACA7437342GABRB3c.885G>T (p.Glu295Asp)
n.928G>T
c.568G>T
c.630G>T (p.Glu210Asp)
c.786G>T (p.Glu262Asp)
c.672G>T (p.Glu224Asp)
c.1053G>T (p.Glu351Asp)
c.*346G>T (n.*346G>T)
n.797G>T
c.*717G>T (n.*717G>T)
n.556G>T
c.708G>T (p.Glu236Asp)
dbSNP ExAC
15g.26561127C=CA2165747165GABRB3c.885G= (p.Glu295=)
n.928G=
c.568G=
c.630G= (p.Glu210=)
c.786G= (p.Glu262=)
c.672G= (p.Glu224=)
c.1053G= (p.Glu351=)
c.*346G= (n.*346G=)
n.797G=
c.*717G= (n.*717G=)
n.556G=
c.708G= (p.Glu236=)
15g.26561127C>GCA391462248GABRB3c.885G>C (p.Glu295Asp)
n.928G>C
c.568G>C
c.630G>C (p.Glu210Asp)
c.786G>C (p.Glu262Asp)
c.672G>C (p.Glu224Asp)
c.1053G>C (p.Glu351Asp)
c.*346G>C (n.*346G>C)
n.797G>C
c.*717G>C (n.*717G>C)
n.556G>C
c.708G>C (p.Glu236Asp)
15g.26561127C>TCA489238773GABRB3c.885G>A (p.Glu295=)
n.928G>A
c.568G>A
c.630G>A (p.Glu210=)
c.786G>A (p.Glu262=)
c.672G>A (p.Glu224=)
c.1053G>A (p.Glu351=)
c.*346G>A (n.*346G>A)
n.797G>A
c.*717G>A (n.*717G>A)
n.556G>A
c.708G>A (p.Glu236=)
ClinVar dbSNP gnomAD v4
15g.26561128T>ACA391462251GABRB3c.884A>T (p.Glu295Val)
n.927A>T
c.567A>T
c.629A>T (p.Glu210Val)
c.785A>T (p.Glu262Val)
c.671A>T (p.Glu224Val)
c.1052A>T (p.Glu351Val)
c.*345A>T (n.*345A>T)
n.796A>T
c.*716A>T (n.*716A>T)
n.555A>T
c.707A>T (p.Glu236Val)
15g.26561128T>CCA391462252GABRB3c.884A>G (p.Glu295Gly)
n.927A>G
c.567A>G
c.629A>G (p.Glu210Gly)
c.785A>G (p.Glu262Gly)
c.671A>G (p.Glu224Gly)
c.1052A>G (p.Glu351Gly)
c.*345A>G (n.*345A>G)
n.796A>G
c.*716A>G (n.*716A>G)
n.555A>G
c.707A>G (p.Glu236Gly)
15g.26561128T>GCA391462250GABRB3c.884A>C (p.Glu295Ala)
n.927A>C
c.567A>C
c.629A>C (p.Glu210Ala)
c.785A>C (p.Glu262Ala)
c.671A>C (p.Glu224Ala)
c.1052A>C (p.Glu351Ala)
c.*345A>C (n.*345A>C)
n.796A>C
c.*716A>C (n.*716A>C)
n.555A>C
c.707A>C (p.Glu236Ala)
15g.26561129C>ACA391462253GABRB3c.883G>T (p.Glu295Ter)
n.926G>T
c.566G>T
c.628G>T (p.Glu210Ter)
c.784G>T (p.Glu262Ter)
c.670G>T (p.Glu224Ter)
c.1051G>T (p.Glu351Ter)
c.*344G>T (n.*344G>T)
n.795G>T
c.*715G>T (n.*715G>T)
n.554G>T
c.706G>T (p.Glu236Ter)
ClinVar dbSNP
15g.26561129C=CA2165747170GABRB3c.883G= (p.Glu295=)
n.926G=
c.566G=
c.628G= (p.Glu210=)
c.784G= (p.Glu262=)
c.670G= (p.Glu224=)
c.1051G= (p.Glu351=)
c.*344G= (n.*344G=)
n.795G=
c.*715G= (n.*715G=)
n.554G=
c.706G= (p.Glu236=)
15g.26561129C>GCA391462254GABRB3c.883G>C (p.Glu295Gln)
n.926G>C
c.566G>C
c.628G>C (p.Glu210Gln)
c.784G>C (p.Glu262Gln)
c.670G>C (p.Glu224Gln)
c.1051G>C (p.Glu351Gln)
c.*344G>C (n.*344G>C)
n.795G>C
c.*715G>C (n.*715G>C)
n.554G>C
c.706G>C (p.Glu236Gln)
15g.26561129C>TCA268154593GABRB3c.883G>A (p.Glu295Lys)
n.926G>A
c.566G>A
c.628G>A (p.Glu210Lys)
c.784G>A (p.Glu262Lys)
c.670G>A (p.Glu224Lys)
c.1051G>A (p.Glu351Lys)
c.*344G>A (n.*344G>A)
n.795G>A
c.*715G>A (n.*715G>A)
n.554G>A
c.706G>A (p.Glu236Lys)
dbSNP
15g.26561130C>ACA489238774GABRB3c.882G>T (p.Arg294=)
n.925G>T
c.565G>T
c.627G>T (p.Arg209=)
c.783G>T (p.Arg261=)
c.669G>T (p.Arg223=)
c.1050G>T (p.Arg350=)
c.*343G>T (n.*343G>T)
n.794G>T
c.*714G>T (n.*714G>T)
n.553G>T
c.705G>T (p.Arg235=)
15g.26561130C>GCA489238775GABRB3c.882G>C (p.Arg294=)
n.925G>C
c.565G>C
c.627G>C (p.Arg209=)
c.783G>C (p.Arg261=)
c.669G>C (p.Arg223=)
c.1050G>C (p.Arg350=)
c.*343G>C (n.*343G>C)
n.794G>C
c.*714G>C (n.*714G>C)
n.553G>C
c.705G>C (p.Arg235=)
15g.26561130C>TCA489238776GABRB3c.882G>A (p.Arg294=)
n.925G>A
c.565G>A
c.627G>A (p.Arg209=)
c.783G>A (p.Arg261=)
c.669G>A (p.Arg223=)
c.1050G>A (p.Arg350=)
c.*343G>A (n.*343G>A)
n.794G>A
c.*714G>A (n.*714G>A)
n.553G>A
c.705G>A (p.Arg235=)
gnomAD v4
15g.26561131C>ACA391462255GABRB3c.881G>T (p.Arg294Leu)
n.924G>T
c.564G>T
c.626G>T (p.Arg209Leu)
c.782G>T (p.Arg261Leu)
c.668G>T (p.Arg223Leu)
c.1049G>T (p.Arg350Leu)
c.*342G>T (n.*342G>T)
n.793G>T
c.*713G>T (n.*713G>T)
n.552G>T
c.704G>T (p.Arg235Leu)
COSMIC COSMIC COSMIC
15g.26561131C=CA2165747174GABRB3c.881G= (p.Arg294=)
n.924G=
c.564G=
c.626G= (p.Arg209=)
c.782G= (p.Arg261=)
c.668G= (p.Arg223=)
c.1049G= (p.Arg350=)
c.*342G= (n.*342G=)
n.793G=
c.*713G= (n.*713G=)
n.552G=
c.704G= (p.Arg235=)
15g.26561131C>GCA391462257GABRB3c.881G>C (p.Arg294Pro)
n.924G>C
c.564G>C
c.626G>C (p.Arg209Pro)
c.782G>C (p.Arg261Pro)
c.668G>C (p.Arg223Pro)
c.1049G>C (p.Arg350Pro)
c.*342G>C (n.*342G>C)
n.793G>C
c.*713G>C (n.*713G>C)
n.552G>C
c.704G>C (p.Arg235Pro)
ClinVar dbSNP
15g.26561131C>TCA391462259GABRB3c.881G>A (p.Arg294Gln)
n.924G>A
c.564G>A
c.626G>A (p.Arg209Gln)
c.782G>A (p.Arg261Gln)
c.668G>A (p.Arg223Gln)
c.1049G>A (p.Arg350Gln)
c.*342G>A (n.*342G>A)
n.793G>A
c.*713G>A (n.*713G>A)
n.552G>A
c.704G>A (p.Arg235Gln)
ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
15g.26561132G>ACA7437343GABRB3c.880C>T (p.Arg294Trp)
n.923C>T
c.563C>T
c.625C>T (p.Arg209Trp)
c.781C>T (p.Arg261Trp)
c.667C>T (p.Arg223Trp)
c.1048C>T (p.Arg350Trp)
c.*341C>T (n.*341C>T)
n.792C>T
c.*712C>T (n.*712C>T)
n.551C>T
c.703C>T (p.Arg235Trp)
dbSNP ExAC gnomAD v2 gnomAD v4
15g.26561132G>CCA391462266GABRB3c.880C>G (p.Arg294Gly)
n.923C>G
c.563C>G
c.625C>G (p.Arg209Gly)
c.781C>G (p.Arg261Gly)
c.667C>G (p.Arg223Gly)
c.1048C>G (p.Arg350Gly)
c.*341C>G (n.*341C>G)
n.792C>G
c.*712C>G (n.*712C>G)
n.551C>G
c.703C>G (p.Arg235Gly)
15g.26561132G=CA2165747180GABRB3c.880C= (p.Arg294=)
n.923C=
c.563C=
c.625C= (p.Arg209=)
c.781C= (p.Arg261=)
c.667C= (p.Arg223=)
c.1048C= (p.Arg350=)
c.*341C= (n.*341C=)
n.792C=
c.*712C= (n.*712C=)
n.551C=
c.703C= (p.Arg235=)
15g.26561132G>TCA489238777GABRB3c.880C>A (p.Arg294=)
n.923C>A
c.563C>A
c.625C>A (p.Arg209=)
c.781C>A (p.Arg261=)
c.667C>A (p.Arg223=)
c.1048C>A (p.Arg350=)
c.*341C>A (n.*341C>A)
n.792C>A
c.*712C>A (n.*712C>A)
n.551C>A
c.703C>A (p.Arg235=)
15g.26561133A=CA2165747185GABRB3c.879T= (p.Leu293=)
n.922T=
c.562T=
c.624T= (p.Leu208=)
c.780T= (p.Leu260=)
c.666T= (p.Leu222=)
c.1047T= (p.Leu349=)
c.*340T= (n.*340T=)
n.791T=
c.*711T= (n.*711T=)
n.550T=
c.702T= (p.Leu234=)
15g.26561133A>CCA489238779GABRB3c.879T>G (p.Leu293=)
n.922T>G
c.562T>G
c.624T>G (p.Leu208=)
c.780T>G (p.Leu260=)
c.666T>G (p.Leu222=)
c.1047T>G (p.Leu349=)
c.*340T>G (n.*340T>G)
n.791T>G
c.*711T>G (n.*711T>G)
n.550T>G
c.702T>G (p.Leu234=)
15g.26561133A>GCA489238780GABRB3c.879T>C (p.Leu293=)
n.922T>C
c.562T>C
c.624T>C (p.Leu208=)
c.780T>C (p.Leu260=)
c.666T>C (p.Leu222=)
c.1047T>C (p.Leu349=)
c.*340T>C (n.*340T>C)
n.791T>C
c.*711T>C (n.*711T>C)
n.550T>C
c.702T>C (p.Leu234=)
dbSNP gnomAD v3 gnomAD v4
15g.26561133A>TCA489238778GABRB3c.879T>A (p.Leu293=)
n.922T>A
c.562T>A
c.624T>A (p.Leu208=)
c.780T>A (p.Leu260=)
c.666T>A (p.Leu222=)
c.1047T>A (p.Leu349=)
c.*340T>A (n.*340T>A)
n.791T>A
c.*711T>A (n.*711T>A)
n.550T>A
c.702T>A (p.Leu234=)
15g.26561134A>CCA391462267GABRB3c.878T>G (p.Leu293Arg)
n.921T>G
c.561T>G
c.623T>G (p.Leu208Arg)
c.779T>G (p.Leu260Arg)
c.665T>G (p.Leu222Arg)
c.1046T>G (p.Leu349Arg)
c.*339T>G (n.*339T>G)
n.790T>G
c.*710T>G (n.*710T>G)
n.549T>G
c.701T>G (p.Leu234Arg)
15g.26561134A>GCA391462268GABRB3c.878T>C (p.Leu293Pro)
n.921T>C
c.561T>C
c.623T>C (p.Leu208Pro)
c.779T>C (p.Leu260Pro)
c.665T>C (p.Leu222Pro)
c.1046T>C (p.Leu349Pro)
c.*339T>C (n.*339T>C)
n.790T>C
c.*710T>C (n.*710T>C)
n.549T>C
c.701T>C (p.Leu234Pro)
ClinVar dbSNP
15g.26561134A>TCA391462269GABRB3c.878T>A (p.Leu293His)
n.921T>A
c.561T>A
c.623T>A (p.Leu208His)
c.779T>A (p.Leu260His)
c.665T>A (p.Leu222His)
c.1046T>A (p.Leu349His)
c.*339T>A (n.*339T>A)
n.790T>A
c.*710T>A (n.*710T>A)
n.549T>A
c.701T>A (p.Leu234His)
15g.26561135G>ACA391462272GABRB3c.877C>T (p.Leu293Phe)
n.920C>T
c.560C>T
c.622C>T (p.Leu208Phe)
c.778C>T (p.Leu260Phe)
c.664C>T (p.Leu222Phe)
c.1045C>T (p.Leu349Phe)
c.*338C>T (n.*338C>T)
n.789C>T
c.*709C>T (n.*709C>T)
n.548C>T
c.700C>T (p.Leu234Phe)
15g.26561135G>CCA391462273GABRB3c.877C>G (p.Leu293Val)
n.920C>G
c.560C>G
c.622C>G (p.Leu208Val)
c.778C>G (p.Leu260Val)
c.664C>G (p.Leu222Val)
c.1045C>G (p.Leu349Val)
c.*338C>G (n.*338C>G)
n.789C>G
c.*709C>G (n.*709C>G)
n.548C>G
c.700C>G (p.Leu234Val)
15g.26561135G>TCA391462274GABRB3c.877C>A (p.Leu293Ile)
n.920C>A
c.560C>A
c.622C>A (p.Leu208Ile)
c.778C>A (p.Leu260Ile)
c.664C>A (p.Leu222Ile)
c.1045C>A (p.Leu349Ile)
c.*338C>A (n.*338C>A)
n.789C>A
c.*709C>A (n.*709C>A)
n.548C>A
c.700C>A (p.Leu234Ile)
15g.26561136G>ACA489238781GABRB3c.876C>T (p.His292=)
n.919C>T
c.559C>T
c.621C>T (p.His207=)
c.777C>T (p.His259=)
c.663C>T (p.His221=)
c.1044C>T (p.His348=)
c.*337C>T (n.*337C>T)
n.788C>T
c.*708C>T (n.*708C>T)
n.547C>T
c.699C>T (p.His233=)
dbSNP gnomAD v2 gnomAD v4
15g.26561136G>CCA391462276GABRB3c.876C>G (p.His292Gln)
n.919C>G
c.559C>G
c.621C>G (p.His207Gln)
c.777C>G (p.His259Gln)
c.663C>G (p.His221Gln)
c.1044C>G (p.His348Gln)
c.*337C>G (n.*337C>G)
n.788C>G
c.*708C>G (n.*708C>G)
n.547C>G
c.699C>G (p.His233Gln)
15g.26561136G=CA2165747187GABRB3c.876C= (p.His292=)
n.919C=
c.559C=
c.621C= (p.His207=)
c.777C= (p.His259=)
c.663C= (p.His221=)
c.1044C= (p.His348=)
c.*337C= (n.*337C=)
n.788C=
c.*708C= (n.*708C=)
n.547C=
c.699C= (p.His233=)
15g.26561136G>TCA391462275GABRB3c.876C>A (p.His292Gln)
n.919C>A
c.559C>A
c.621C>A (p.His207Gln)
c.777C>A (p.His259Gln)
c.663C>A (p.His221Gln)
c.1044C>A (p.His348Gln)
c.*337C>A (n.*337C>A)
n.788C>A
c.*708C>A (n.*708C>A)
n.547C>A
c.699C>A (p.His233Gln)
15g.26561137T>ACA391462277GABRB3c.875A>T (p.His292Leu)
n.918A>T
c.558A>T
c.620A>T (p.His207Leu)
c.776A>T (p.His259Leu)
c.662A>T (p.His221Leu)
c.1043A>T (p.His348Leu)
c.*336A>T (n.*336A>T)
n.787A>T
c.*707A>T (n.*707A>T)
n.546A>T
c.698A>T (p.His233Leu)
15g.26561137T>CCA391462278GABRB3c.875A>G (p.His292Arg)
n.918A>G
c.558A>G
c.620A>G (p.His207Arg)
c.776A>G (p.His259Arg)
c.662A>G (p.His221Arg)
c.1043A>G (p.His348Arg)
c.*336A>G (n.*336A>G)
n.787A>G
c.*707A>G (n.*707A>G)
n.546A>G
c.698A>G (p.His233Arg)
15g.26561137T>GCA391462279GABRB3c.875A>C (p.His292Pro)
n.918A>C
c.558A>C
c.620A>C (p.His207Pro)
c.776A>C (p.His259Pro)
c.662A>C (p.His221Pro)
c.1043A>C (p.His348Pro)
c.*336A>C (n.*336A>C)
n.787A>C
c.*707A>C (n.*707A>C)
n.546A>C
c.698A>C (p.His233Pro)
15g.26561138G>ACA391462280GABRB3c.874C>T (p.His292Tyr)
n.917C>T
c.557C>T
c.619C>T (p.His207Tyr)
c.775C>T (p.His259Tyr)
c.661C>T (p.His221Tyr)
c.1042C>T (p.His348Tyr)
c.*335C>T (n.*335C>T)
n.786C>T
c.*706C>T (n.*706C>T)
n.545C>T
c.697C>T (p.His233Tyr)
15g.26561138G>CCA391462282GABRB3c.874C>G (p.His292Asp)
n.917C>G
c.557C>G
c.619C>G (p.His207Asp)
c.775C>G (p.His259Asp)
c.661C>G (p.His221Asp)
c.1042C>G (p.His348Asp)
c.*335C>G (n.*335C>G)
n.786C>G
c.*706C>G (n.*706C>G)
n.545C>G
c.697C>G (p.His233Asp)
15g.26561138G>TCA391462283GABRB3c.874C>A (p.His292Asn)
n.917C>A
c.557C>A
c.619C>A (p.His207Asn)
c.775C>A (p.His259Asn)
c.661C>A (p.His221Asn)
c.1042C>A (p.His348Asn)
c.*335C>A (n.*335C>A)
n.786C>A
c.*706C>A (n.*706C>A)
n.545C>A
c.697C>A (p.His233Asn)
15g.26561139G>ACA489238782GABRB3c.873C>T (p.Thr291=)
n.916C>T
c.556C>T
c.618C>T (p.Thr206=)
c.774C>T (p.Thr258=)
c.660C>T (p.Thr220=)
c.1041C>T (p.Thr347=)
c.*334C>T (n.*334C>T)
n.785C>T
c.*705C>T (n.*705C>T)
n.544C>T
c.696C>T (p.Thr232=)
15g.26561139G>CCA489238783GABRB3c.873C>G (p.Thr291=)
n.916C>G
c.556C>G
c.618C>G (p.Thr206=)
c.774C>G (p.Thr258=)
c.660C>G (p.Thr220=)
c.1041C>G (p.Thr347=)
c.*334C>G (n.*334C>G)
n.785C>G
c.*705C>G (n.*705C>G)
n.544C>G
c.696C>G (p.Thr232=)
15g.26561139G>TCA489238784GABRB3c.873C>A (p.Thr291=)
n.916C>A
c.556C>A
c.618C>A (p.Thr206=)
c.774C>A (p.Thr258=)
c.660C>A (p.Thr220=)
c.1041C>A (p.Thr347=)
c.*334C>A (n.*334C>A)
n.785C>A
c.*705C>A (n.*705C>A)
n.544C>A
c.696C>A (p.Thr232=)
15g.26561140G>ACA268154594GABRB3c.872C>T (p.Thr291Ile)
n.915C>T
c.555C>T
c.617C>T (p.Thr206Ile)
c.773C>T (p.Thr258Ile)
c.659C>T (p.Thr220Ile)
c.1040C>T (p.Thr347Ile)
c.*333C>T (n.*333C>T)
n.784C>T
c.*704C>T (n.*704C>T)
n.543C>T
c.695C>T (p.Thr232Ile)
dbSNP
15g.26561140G>CCA391462288GABRB3c.872C>G (p.Thr291Ser)
n.915C>G
c.555C>G
c.617C>G (p.Thr206Ser)
c.773C>G (p.Thr258Ser)
c.659C>G (p.Thr220Ser)
c.1040C>G (p.Thr347Ser)
c.*333C>G (n.*333C>G)
n.784C>G
c.*704C>G (n.*704C>G)
n.543C>G
c.695C>G (p.Thr232Ser)
15g.26561140G=CA2165747191GABRB3c.872C= (p.Thr291=)
n.915C=
c.555C=
c.617C= (p.Thr206=)
c.773C= (p.Thr258=)
c.659C= (p.Thr220=)
c.1040C= (p.Thr347=)
c.*333C= (n.*333C=)
n.784C=
c.*704C= (n.*704C=)
n.543C=
c.695C= (p.Thr232=)
15g.26561140G>TCA391462286GABRB3c.872C>A (p.Thr291Asn)
n.915C>A
c.555C>A
c.617C>A (p.Thr206Asn)
c.773C>A (p.Thr258Asn)
c.659C>A (p.Thr220Asn)
c.1040C>A (p.Thr347Asn)
c.*333C>A (n.*333C>A)
n.784C>A
c.*704C>A (n.*704C>A)
n.543C>A
c.695C>A (p.Thr232Asn)
15g.26561141T>ACA391462291GABRB3c.871A>T (p.Thr291Ser)
n.914A>T
c.554A>T
c.616A>T (p.Thr206Ser)
c.772A>T (p.Thr258Ser)
c.658A>T (p.Thr220Ser)
c.1039A>T (p.Thr347Ser)
c.*332A>T (n.*332A>T)
n.783A>T
c.*703A>T (n.*703A>T)
n.542A>T
c.694A>T (p.Thr232Ser)
15g.26561141T>CCA391462293GABRB3c.871A>G (p.Thr291Ala)
n.914A>G
c.554A>G
c.616A>G (p.Thr206Ala)
c.772A>G (p.Thr258Ala)
c.658A>G (p.Thr220Ala)
c.1039A>G (p.Thr347Ala)
c.*332A>G (n.*332A>G)
n.783A>G
c.*703A>G (n.*703A>G)
n.542A>G
c.694A>G (p.Thr232Ala)
15g.26561141T>GCA391462295GABRB3c.871A>C (p.Thr291Pro)
n.914A>C
c.554A>C
c.616A>C (p.Thr206Pro)
c.772A>C (p.Thr258Pro)
c.658A>C (p.Thr220Pro)
c.1039A>C (p.Thr347Pro)
c.*332A>C (n.*332A>C)
n.783A>C
c.*703A>C (n.*703A>C)
n.542A>C
c.694A>C (p.Thr232Pro)
15g.26561142G>ACA7437344GABRB3c.870C>T (p.Asn290=)
n.913C>T
c.553C>T
c.615C>T (p.Asn205=)
c.771C>T (p.Asn257=)
c.657C>T (p.Asn219=)
c.1038C>T (p.Asn346=)
c.*331C>T (n.*331C>T)
n.782C>T
c.*702C>T (n.*702C>T)
n.541C>T
c.693C>T (p.Asn231=)
dbSNP ExAC gnomAD v2 gnomAD v4
15g.26561142G>CCA391462298GABRB3c.870C>G (p.Asn290Lys)
n.913C>G
c.553C>G
c.615C>G (p.Asn205Lys)
c.771C>G (p.Asn257Lys)
c.657C>G (p.Asn219Lys)
c.1038C>G (p.Asn346Lys)
c.*331C>G (n.*331C>G)
n.782C>G
c.*702C>G (n.*702C>G)
n.541C>G
c.693C>G (p.Asn231Lys)
15g.26561142G=CA2165747194GABRB3c.870C= (p.Asn290=)
n.913C=
c.553C=
c.615C= (p.Asn205=)
c.771C= (p.Asn257=)
c.657C= (p.Asn219=)
c.1038C= (p.Asn346=)
c.*331C= (n.*331C=)
n.782C=
c.*702C= (n.*702C=)
n.541C=
c.693C= (p.Asn231=)
15g.26561142G>TCA391462300GABRB3c.870C>A (p.Asn290Lys)
n.913C>A
c.553C>A
c.615C>A (p.Asn205Lys)
c.771C>A (p.Asn257Lys)
c.657C>A (p.Asn219Lys)
c.1038C>A (p.Asn346Lys)
c.*331C>A (n.*331C>A)
n.782C>A
c.*702C>A (n.*702C>A)
n.541C>A
c.693C>A (p.Asn231Lys)
15g.26561143T>ACA391462302GABRB3c.869A>T (p.Asn290Ile)
n.912A>T
c.552A>T
c.614A>T (p.Asn205Ile)
c.770A>T (p.Asn257Ile)
c.656A>T (p.Asn219Ile)
c.1037A>T (p.Asn346Ile)
c.*330A>T (n.*330A>T)
n.781A>T
c.*701A>T (n.*701A>T)
n.540A>T
c.692A>T (p.Asn231Ile)
15g.26561143T>CCA391462306GABRB3c.869A>G (p.Asn290Ser)
n.912A>G
c.552A>G
c.614A>G (p.Asn205Ser)
c.770A>G (p.Asn257Ser)
c.656A>G (p.Asn219Ser)
c.1037A>G (p.Asn346Ser)
c.*330A>G (n.*330A>G)
n.781A>G
c.*701A>G (n.*701A>G)
n.540A>G
c.692A>G (p.Asn231Ser)
gnomAD v4
15g.26561143T>GCA391462304GABRB3c.869A>C (p.Asn290Thr)
n.912A>C
c.552A>C
c.614A>C (p.Asn205Thr)
c.770A>C (p.Asn257Thr)
c.656A>C (p.Asn219Thr)
c.1037A>C (p.Asn346Thr)
c.*330A>C (n.*330A>C)
n.781A>C
c.*701A>C (n.*701A>C)
n.540A>C
c.692A>C (p.Asn231Thr)
15g.26561144T>ACA391462308GABRB3c.868A>T (p.Asn290Tyr)
n.911A>T
c.551A>T
c.613A>T (p.Asn205Tyr)
c.769A>T (p.Asn257Tyr)
c.655A>T (p.Asn219Tyr)
c.1036A>T (p.Asn346Tyr)
c.*329A>T (n.*329A>T)
n.780A>T
c.*700A>T (n.*700A>T)
n.539A>T
c.691A>T (p.Asn231Tyr)
15g.26561144T>CCA391462309GABRB3c.868A>G (p.Asn290Asp)
n.911A>G
c.551A>G
c.613A>G (p.Asn205Asp)
c.769A>G (p.Asn257Asp)
c.655A>G (p.Asn219Asp)
c.1036A>G (p.Asn346Asp)
c.*329A>G (n.*329A>G)
n.780A>G
c.*700A>G (n.*700A>G)
n.539A>G
c.691A>G (p.Asn231Asp)
15g.26561144T>GCA391462311GABRB3c.868A>C (p.Asn290His)
n.911A>C
c.551A>C
c.613A>C (p.Asn205His)
c.769A>C (p.Asn257His)
c.655A>C (p.Asn219His)
c.1036A>C (p.Asn346His)
c.*329A>C (n.*329A>C)
n.780A>C
c.*700A>C (n.*700A>C)
n.539A>C
c.691A>C (p.Asn231His)
ClinVar
15g.26561145G>ACA489238785GABRB3c.867C>T (p.Ile289=)
n.910C>T
c.550C>T
c.612C>T (p.Ile204=)
c.768C>T (p.Ile256=)
c.654C>T (p.Ile218=)
c.1035C>T (p.Ile345=)
c.*328C>T (n.*328C>T)
n.779C>T
c.*699C>T (n.*699C>T)
n.538C>T
c.690C>T (p.Ile230=)
15g.26561145G>CCA391462313GABRB3c.867C>G (p.Ile289Met)
n.910C>G
c.550C>G
c.612C>G (p.Ile204Met)
c.768C>G (p.Ile256Met)
c.654C>G (p.Ile218Met)
c.1035C>G (p.Ile345Met)
c.*328C>G (n.*328C>G)
n.779C>G
c.*699C>G (n.*699C>G)
n.538C>G
c.690C>G (p.Ile230Met)
15g.26561145G>TCA489238786GABRB3c.867C>A (p.Ile289=)
n.910C>A
c.550C>A
c.612C>A (p.Ile204=)
c.768C>A (p.Ile256=)
c.654C>A (p.Ile218=)
c.1035C>A (p.Ile345=)
c.*328C>A (n.*328C>A)
n.779C>A
c.*699C>A (n.*699C>A)
n.538C>A
c.690C>A (p.Ile230=)
15g.26561146A>CCA391462315GABRB3c.866T>G (p.Ile289Ser)
n.909T>G
c.549T>G
c.611T>G (p.Ile204Ser)
c.767T>G (p.Ile256Ser)
c.653T>G (p.Ile218Ser)
c.1034T>G (p.Ile345Ser)
c.*327T>G (n.*327T>G)
n.778T>G
c.*698T>G (n.*698T>G)
n.537T>G
c.689T>G (p.Ile230Ser)
15g.26561146A>GCA391462317GABRB3c.866T>C (p.Ile289Thr)
n.909T>C
c.549T>C
c.611T>C (p.Ile204Thr)
c.767T>C (p.Ile256Thr)
c.653T>C (p.Ile218Thr)
c.1034T>C (p.Ile345Thr)
c.*327T>C (n.*327T>C)
n.778T>C
c.*698T>C (n.*698T>C)
n.537T>C
c.689T>C (p.Ile230Thr)
ClinVar
15g.26561146A>TCA391462318GABRB3c.866T>A (p.Ile289Asn)
n.909T>A
c.549T>A
c.611T>A (p.Ile204Asn)
c.767T>A (p.Ile256Asn)
c.653T>A (p.Ile218Asn)
c.1034T>A (p.Ile345Asn)
c.*327T>A (n.*327T>A)
n.778T>A
c.*698T>A (n.*698T>A)
n.537T>A
c.689T>A (p.Ile230Asn)
15g.26561147T>ACA391462319GABRB3c.865A>T (p.Ile289Phe)
n.908A>T
c.548A>T
c.610A>T (p.Ile204Phe)
c.766A>T (p.Ile256Phe)
c.652A>T (p.Ile218Phe)
c.1033A>T (p.Ile345Phe)
c.*326A>T (n.*326A>T)
n.777A>T
c.*697A>T (n.*697A>T)
n.536A>T
c.688A>T (p.Ile230Phe)
15g.26561147T>CCA391462320GABRB3c.865A>G (p.Ile289Val)
n.908A>G
c.548A>G
c.610A>G (p.Ile204Val)
c.766A>G (p.Ile256Val)
c.652A>G (p.Ile218Val)
c.1033A>G (p.Ile345Val)
c.*326A>G (n.*326A>G)
n.777A>G
c.*697A>G (n.*697A>G)
n.536A>G
c.688A>G (p.Ile230Val)
15g.26561147T>GCA391462321GABRB3c.865A>C (p.Ile289Leu)
n.908A>C
c.548A>C
c.610A>C (p.Ile204Leu)
c.766A>C (p.Ile256Leu)
c.652A>C (p.Ile218Leu)
c.1033A>C (p.Ile345Leu)
c.*326A>C (n.*326A>C)
n.777A>C
c.*697A>C (n.*697A>C)
n.536A>C
c.688A>C (p.Ile230Leu)
15g.26561148G>ACA489238789GABRB3c.864C>T (p.Thr288=)
n.907C>T
c.547C>T
c.609C>T (p.Thr203=)
c.765C>T (p.Thr255=)
c.651C>T (p.Thr217=)
c.1032C>T (p.Thr344=)
c.*325C>T (n.*325C>T)
n.776C>T
c.*696C>T (n.*696C>T)
n.535C>T
c.687C>T (p.Thr229=)
15g.26561148G>CCA489238788GABRB3c.864C>G (p.Thr288=)
n.907C>G
c.547C>G
c.609C>G (p.Thr203=)
c.765C>G (p.Thr255=)
c.651C>G (p.Thr217=)
c.1032C>G (p.Thr344=)
c.*325C>G (n.*325C>G)
n.776C>G
c.*696C>G (n.*696C>G)
n.535C>G
c.687C>G (p.Thr229=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.26561148G=CA2165747199GABRB3c.864C= (p.Thr288=)
n.907C=
c.547C=
c.609C= (p.Thr203=)
c.765C= (p.Thr255=)
c.651C= (p.Thr217=)
c.1032C= (p.Thr344=)
c.*325C= (n.*325C=)
n.776C=
c.*696C= (n.*696C=)
n.535C=
c.687C= (p.Thr229=)
15g.26561148G>TCA489238787GABRB3c.864C>A (p.Thr288=)
n.907C>A
c.547C>A
c.609C>A (p.Thr203=)
c.765C>A (p.Thr255=)
c.651C>A (p.Thr217=)
c.1032C>A (p.Thr344=)
c.*325C>A (n.*325C>A)
n.776C>A
c.*696C>A (n.*696C>A)
n.535C>A
c.687C>A (p.Thr229=)
15g.26561149G>ACA391462322GABRB3c.863C>T (p.Thr288Ile)
n.906C>T
c.546C>T
c.608C>T (p.Thr203Ile)
c.764C>T (p.Thr255Ile)
c.650C>T (p.Thr217Ile)
c.1031C>T (p.Thr344Ile)
c.*324C>T (n.*324C>T)
n.775C>T
c.*695C>T (n.*695C>T)
n.534C>T
c.686C>T (p.Thr229Ile)
ClinVar dbSNP
15g.26561149G>CCA391462323GABRB3c.863C>G (p.Thr288Ser)
n.906C>G
c.546C>G
c.608C>G (p.Thr203Ser)
c.764C>G (p.Thr255Ser)
c.650C>G (p.Thr217Ser)
c.1031C>G (p.Thr344Ser)
c.*324C>G (n.*324C>G)
n.775C>G
c.*695C>G (n.*695C>G)
n.534C>G
c.686C>G (p.Thr229Ser)
15g.26561149G=CA2165747207GABRB3c.863C= (p.Thr288=)
n.906C=
c.546C=
c.608C= (p.Thr203=)
c.764C= (p.Thr255=)
c.650C= (p.Thr217=)
c.1031C= (p.Thr344=)
c.*324C= (n.*324C=)
n.775C=
c.*695C= (n.*695C=)
n.534C=
c.686C= (p.Thr229=)
15g.26561149G>TCA391462324GABRB3c.863C>A (p.Thr288Asn)
n.906C>A
c.546C>A
c.608C>A (p.Thr203Asn)
c.764C>A (p.Thr255Asn)
c.650C>A (p.Thr217Asn)
c.1031C>A (p.Thr344Asn)
c.*324C>A (n.*324C>A)
n.775C>A
c.*695C>A (n.*695C>A)
n.534C>A
c.686C>A (p.Thr229Asn)
15g.26561150T>ACA391462327GABRB3c.862A>T (p.Thr288Ser)
n.905A>T
c.545A>T
c.607A>T (p.Thr203Ser)
c.763A>T (p.Thr255Ser)
c.649A>T (p.Thr217Ser)
c.1030A>T (p.Thr344Ser)
c.*323A>T (n.*323A>T)
n.774A>T
c.*694A>T (n.*694A>T)
n.533A>T
c.685A>T (p.Thr229Ser)
15g.26561150T>CCA391462325GABRB3c.862A>G (p.Thr288Ala)
n.905A>G
c.545A>G
c.607A>G (p.Thr203Ala)
c.763A>G (p.Thr255Ala)
c.649A>G (p.Thr217Ala)
c.1030A>G (p.Thr344Ala)
c.*323A>G (n.*323A>G)
n.774A>G
c.*694A>G (n.*694A>G)
n.533A>G
c.685A>G (p.Thr229Ala)
ClinVar dbSNP
15g.26561150T>GCA391462326GABRB3c.862A>C (p.Thr288Pro)
n.905A>C
c.545A>C
c.607A>C (p.Thr203Pro)
c.763A>C (p.Thr255Pro)
c.649A>C (p.Thr217Pro)
c.1030A>C (p.Thr344Pro)
c.*323A>C (n.*323A>C)
n.774A>C
c.*694A>C (n.*694A>C)
n.533A>C
c.685A>C (p.Thr229Pro)
15g.26561150T=CA2165747215GABRB3c.862A= (p.Thr288=)
n.905A=
c.545A=
c.607A= (p.Thr203=)
c.763A= (p.Thr255=)
c.649A= (p.Thr217=)
c.1030A= (p.Thr344=)
c.*323A= (n.*323A=)
n.774A=
c.*694A= (n.*694A=)
n.533A=
c.685A= (p.Thr229=)
15g.26561151T>ACA489238790GABRB3c.861A>T (p.Thr287=)
n.904A>T
c.544A>T
c.606A>T (p.Thr202=)
c.762A>T (p.Thr254=)
c.648A>T (p.Thr216=)
c.1029A>T (p.Thr343=)
c.*322A>T (n.*322A>T)
n.773A>T
c.*693A>T (n.*693A>T)
n.532A>T
c.684A>T (p.Thr228=)
15g.26561151T>CCA489238792GABRB3c.861A>G (p.Thr287=)
n.904A>G
c.544A>G
c.606A>G (p.Thr202=)
c.762A>G (p.Thr254=)
c.648A>G (p.Thr216=)
c.1029A>G (p.Thr343=)
c.*322A>G (n.*322A>G)
n.773A>G
c.*693A>G (n.*693A>G)
n.532A>G
c.684A>G (p.Thr228=)
15g.26561151T>GCA489238791GABRB3c.861A>C (p.Thr287=)
n.904A>C
c.544A>C
c.606A>C (p.Thr202=)
c.762A>C (p.Thr254=)
c.648A>C (p.Thr216=)
c.1029A>C (p.Thr343=)
c.*322A>C (n.*322A>C)
n.773A>C
c.*693A>C (n.*693A>C)
n.532A>C
c.684A>C (p.Thr228=)
15g.26561152G>ACA391462328GABRB3c.860C>T (p.Thr287Ile)
n.903C>T
c.543C>T
c.605C>T (p.Thr202Ile)
c.761C>T (p.Thr254Ile)
c.647C>T (p.Thr216Ile)
c.1028C>T (p.Thr343Ile)
c.*321C>T (n.*321C>T)
n.772C>T
c.*692C>T (n.*692C>T)
n.531C>T
c.683C>T (p.Thr228Ile)
ClinVar dbSNP
15g.26561152G>CCA391462329GABRB3c.860C>G (p.Thr287Arg)
n.903C>G
c.543C>G
c.605C>G (p.Thr202Arg)
c.761C>G (p.Thr254Arg)
c.647C>G (p.Thr216Arg)
c.1028C>G (p.Thr343Arg)
c.*321C>G (n.*321C>G)
n.772C>G
c.*692C>G (n.*692C>G)
n.531C>G
c.683C>G (p.Thr228Arg)
15g.26561152G=CA2165747221GABRB3c.860C= (p.Thr287=)
n.903C=
c.543C=
c.605C= (p.Thr202=)
c.761C= (p.Thr254=)
c.647C= (p.Thr216=)
c.1028C= (p.Thr343=)
c.*321C= (n.*321C=)
n.772C=
c.*692C= (n.*692C=)
n.531C=
c.683C= (p.Thr228=)
15g.26561152G>TCA391462330GABRB3c.860C>A (p.Thr287Lys)
n.903C>A
c.543C>A
c.605C>A (p.Thr202Lys)
c.761C>A (p.Thr254Lys)
c.647C>A (p.Thr216Lys)
c.1028C>A (p.Thr343Lys)
c.*321C>A (n.*321C>A)
n.772C>A
c.*692C>A (n.*692C>A)
n.531C>A
c.683C>A (p.Thr228Lys)
ClinVar dbSNP
15g.26561153T>ACA391462331GABRB3c.859A>T (p.Thr287Ser)
n.902A>T
c.542A>T
c.604A>T (p.Thr202Ser)
c.760A>T (p.Thr254Ser)
c.646A>T (p.Thr216Ser)
c.1027A>T (p.Thr343Ser)
c.*320A>T (n.*320A>T)
n.771A>T
c.*691A>T (n.*691A>T)
n.530A>T
c.682A>T (p.Thr228Ser)
15g.26561153T>CCA391462332GABRB3c.859A>G (p.Thr287Ala)
n.902A>G
c.542A>G
c.604A>G (p.Thr202Ala)
c.760A>G (p.Thr254Ala)
c.646A>G (p.Thr216Ala)
c.1027A>G (p.Thr343Ala)
c.*320A>G (n.*320A>G)
n.771A>G
c.*691A>G (n.*691A>G)
n.530A>G
c.682A>G (p.Thr228Ala)
15g.26561153T>GCA391462333GABRB3c.859A>C (p.Thr287Pro)
n.902A>C
c.542A>C
c.604A>C (p.Thr202Pro)
c.760A>C (p.Thr254Pro)
c.646A>C (p.Thr216Pro)
c.1027A>C (p.Thr343Pro)
c.*320A>C (n.*320A>C)
n.771A>C
c.*691A>C (n.*691A>C)
n.530A>C
c.682A>C (p.Thr228Pro)
15g.26561154C>ACA391462334GABRB3c.858G>T (p.Met286Ile)
n.901G>T
c.541G>T
c.603G>T (p.Met201Ile)
c.759G>T (p.Met253Ile)
c.645G>T (p.Met215Ile)
c.1026G>T (p.Met342Ile)
c.*319G>T (n.*319G>T)
n.770G>T
c.*690G>T (n.*690G>T)
n.529G>T
c.681G>T (p.Met227Ile)
15g.26561154C>GCA391462335GABRB3c.858G>C (p.Met286Ile)
n.901G>C
c.541G>C
c.603G>C (p.Met201Ile)
c.759G>C (p.Met253Ile)
c.645G>C (p.Met215Ile)
c.1026G>C (p.Met342Ile)
c.*319G>C (n.*319G>C)
n.770G>C
c.*690G>C (n.*690G>C)
n.529G>C
c.681G>C (p.Met227Ile)
15g.26561154C>TCA391462336GABRB3c.858G>A (p.Met286Ile)
n.901G>A
c.541G>A
c.603G>A (p.Met201Ile)
c.759G>A (p.Met253Ile)
c.645G>A (p.Met215Ile)
c.1026G>A (p.Met342Ile)
c.*319G>A (n.*319G>A)
n.770G>A
c.*690G>A (n.*690G>A)
n.529G>A
c.681G>A (p.Met227Ile)
15g.26561155A>CCA391462337GABRB3c.857T>G (p.Met286Arg)
n.900T>G
c.540T>G
c.602T>G (p.Met201Arg)
c.758T>G (p.Met253Arg)
c.644T>G (p.Met215Arg)
c.1025T>G (p.Met342Arg)
c.*318T>G (n.*318T>G)
n.769T>G
c.*689T>G (n.*689T>G)
n.528T>G
c.680T>G (p.Met227Arg)
15g.26561155A>GCA391462338GABRB3c.857T>C (p.Met286Thr)
n.900T>C
c.540T>C
c.602T>C (p.Met201Thr)
c.758T>C (p.Met253Thr)
c.644T>C (p.Met215Thr)
c.1025T>C (p.Met342Thr)
c.*318T>C (n.*318T>C)
n.769T>C
c.*689T>C (n.*689T>C)
n.528T>C
c.680T>C (p.Met227Thr)
15g.26561155A>TCA391462339GABRB3c.857T>A (p.Met286Lys)
n.900T>A
c.540T>A
c.602T>A (p.Met201Lys)
c.758T>A (p.Met253Lys)
c.644T>A (p.Met215Lys)
c.1025T>A (p.Met342Lys)
c.*318T>A (n.*318T>A)
n.769T>A
c.*689T>A (n.*689T>A)
n.528T>A
c.680T>A (p.Met227Lys)
15g.26561156T>ACA391462340GABRB3c.856A>T (p.Met286Leu)
n.899A>T
c.539A>T
c.601A>T (p.Met201Leu)
c.757A>T (p.Met253Leu)
c.643A>T (p.Met215Leu)
c.1024A>T (p.Met342Leu)
c.*317A>T (n.*317A>T)
n.768A>T
c.*688A>T (n.*688A>T)
n.527A>T
c.679A>T (p.Met227Leu)
15g.26561156T>CCA391462342GABRB3c.856A>G (p.Met286Val)
n.899A>G
c.539A>G
c.601A>G (p.Met201Val)
c.757A>G (p.Met253Val)
c.643A>G (p.Met215Val)
c.1024A>G (p.Met342Val)
c.*317A>G (n.*317A>G)
n.768A>G
c.*688A>G (n.*688A>G)
n.527A>G
c.679A>G (p.Met227Val)
gnomAD v4
15g.26561156T>GCA391462341GABRB3c.856A>C (p.Met286Leu)
n.899A>C
c.539A>C
c.601A>C (p.Met201Leu)
c.757A>C (p.Met253Leu)
c.643A>C (p.Met215Leu)
c.1024A>C (p.Met342Leu)
c.*317A>C (n.*317A>C)
n.768A>C
c.*688A>C (n.*688A>C)
n.527A>C
c.679A>C (p.Met227Leu)
15g.26561157T>ACA489238793GABRB3c.855A>T (p.Thr285=)
n.898A>T
c.538A>T
c.600A>T (p.Thr200=)
c.756A>T (p.Thr252=)
c.642A>T (p.Thr214=)
c.1023A>T (p.Thr341=)
c.*316A>T (n.*316A>T)
n.767A>T
c.*687A>T (n.*687A>T)
n.526A>T
c.678A>T (p.Thr226=)
15g.26561157T>CCA489238794GABRB3c.855A>G (p.Thr285=)
n.898A>G
c.538A>G
c.600A>G (p.Thr200=)
c.756A>G (p.Thr252=)
c.642A>G (p.Thr214=)
c.1023A>G (p.Thr341=)
c.*316A>G (n.*316A>G)
n.767A>G
c.*687A>G (n.*687A>G)
n.526A>G
c.678A>G (p.Thr226=)
dbSNP
15g.26561157T>GCA489238795GABRB3c.855A>C (p.Thr285=)
n.898A>C
c.538A>C
c.600A>C (p.Thr200=)
c.756A>C (p.Thr252=)
c.642A>C (p.Thr214=)
c.1023A>C (p.Thr341=)
c.*316A>C (n.*316A>C)
n.767A>C
c.*687A>C (n.*687A>C)
n.526A>C
c.678A>C (p.Thr226=)
gnomAD v4
15g.26561157T=CA2165747225GABRB3c.855A= (p.Thr285=)
n.898A=
c.538A=
c.600A= (p.Thr200=)
c.756A= (p.Thr252=)
c.642A= (p.Thr214=)
c.1023A= (p.Thr341=)
c.*316A= (n.*316A=)
n.767A=
c.*687A= (n.*687A=)
n.526A=
c.678A= (p.Thr226=)
15g.26561158G>ACA391462343GABRB3c.854C>T (p.Thr285Ile)
n.897C>T
c.537C>T
c.599C>T (p.Thr200Ile)
c.755C>T (p.Thr252Ile)
c.641C>T (p.Thr214Ile)
c.1022C>T (p.Thr341Ile)
c.*315C>T (n.*315C>T)
n.766C>T
c.*686C>T (n.*686C>T)
n.525C>T
c.677C>T (p.Thr226Ile)
15g.26561158G>CCA391462344GABRB3c.854C>G (p.Thr285Arg)
n.897C>G
c.537C>G
c.599C>G (p.Thr200Arg)
c.755C>G (p.Thr252Arg)
c.641C>G (p.Thr214Arg)
c.1022C>G (p.Thr341Arg)
c.*315C>G (n.*315C>G)
n.766C>G
c.*686C>G (n.*686C>G)
n.525C>G
c.677C>G (p.Thr226Arg)
15g.26561158G>TCA391462345GABRB3c.854C>A (p.Thr285Lys)
n.897C>A
c.537C>A
c.599C>A (p.Thr200Lys)
c.755C>A (p.Thr252Lys)
c.641C>A (p.Thr214Lys)
c.1022C>A (p.Thr341Lys)
c.*315C>A (n.*315C>A)
n.766C>A
c.*686C>A (n.*686C>A)
n.525C>A
c.677C>A (p.Thr226Lys)
COSMIC COSMIC COSMIC
15g.26561159T>ACA391462346GABRB3c.853A>T (p.Thr285Ser)
n.896A>T
c.536A>T
c.598A>T (p.Thr200Ser)
c.754A>T (p.Thr252Ser)
c.640A>T (p.Thr214Ser)
c.1021A>T (p.Thr341Ser)
c.*314A>T (n.*314A>T)
n.765A>T
c.*685A>T (n.*685A>T)
n.524A>T
c.676A>T (p.Thr226Ser)
15g.26561159T>CCA391462347GABRB3c.853A>G (p.Thr285Ala)
n.896A>G
c.536A>G
c.598A>G (p.Thr200Ala)
c.754A>G (p.Thr252Ala)
c.640A>G (p.Thr214Ala)
c.1021A>G (p.Thr341Ala)
c.*314A>G (n.*314A>G)
n.765A>G
c.*685A>G (n.*685A>G)
n.524A>G
c.676A>G (p.Thr226Ala)
15g.26561159T>GCA391462348GABRB3c.853A>C (p.Thr285Pro)
n.896A>C
c.536A>C
c.598A>C (p.Thr200Pro)
c.754A>C (p.Thr252Pro)
c.640A>C (p.Thr214Pro)
c.1021A>C (p.Thr341Pro)
c.*314A>C (n.*314A>C)
n.765A>C
c.*685A>C (n.*685A>C)
n.524A>C
c.676A>C (p.Thr226Pro)
15g.26561160C>ACA489238796GABRB3c.852G>T (p.Leu284=)
n.895G>T
c.535G>T
c.597G>T (p.Leu199=)
c.753G>T (p.Leu251=)
c.639G>T (p.Leu213=)
c.1020G>T (p.Leu340=)
c.*313G>T (n.*313G>T)
n.764G>T
c.*684G>T (n.*684G>T)
n.523G>T
c.675G>T (p.Leu225=)
15g.26561160C>GCA489238797GABRB3c.852G>C (p.Leu284=)
n.895G>C
c.535G>C
c.597G>C (p.Leu199=)
c.753G>C (p.Leu251=)
c.639G>C (p.Leu213=)
c.1020G>C (p.Leu340=)
c.*313G>C (n.*313G>C)
n.764G>C
c.*684G>C (n.*684G>C)
n.523G>C
c.675G>C (p.Leu225=)
15g.26561160C>TCA489238798GABRB3c.852G>A (p.Leu284=)
n.895G>A
c.535G>A
c.597G>A (p.Leu199=)
c.753G>A (p.Leu251=)
c.639G>A (p.Leu213=)
c.1020G>A (p.Leu340=)
c.*313G>A (n.*313G>A)
n.764G>A
c.*684G>A (n.*684G>A)
n.523G>A
c.675G>A (p.Leu225=)
15g.26561162_26561164dupCA2573150551GABRB3c.850_852dup (p.Leu284_Thr285insLeu)
n.893_895dup
c.533_535dup
c.595_597dup (p.Leu199_Thr200insLeu)
c.751_753dup (p.Leu251_Thr252insLeu)
c.637_639dup (p.Leu213_Thr214insLeu)
c.1018_1020dup (p.Leu340_Thr341insLeu)
c.*311_*313dup (n.*311_*313dup)
n.762_764dup
c.*682_*684dup (n.*682_*684dup)
n.521_523dup
c.673_675dup (p.Leu225_Thr226insLeu)
ClinVar dbSNP
15g.26561161A=CA2165747231GABRB3c.851T= (p.Leu284=)
n.894T=
c.534T=
c.596T= (p.Leu199=)
c.752T= (p.Leu251=)
c.638T= (p.Leu213=)
c.1019T= (p.Leu340=)
c.*312T= (n.*312T=)
n.763T=
c.*683T= (n.*683T=)
n.522T=
c.674T= (p.Leu225=)
15g.26561161A>CCA391462351GABRB3c.851T>G (p.Leu284Arg)
n.894T>G
c.534T>G
c.596T>G (p.Leu199Arg)
c.752T>G (p.Leu251Arg)
c.638T>G (p.Leu213Arg)
c.1019T>G (p.Leu340Arg)
c.*312T>G (n.*312T>G)
n.763T>G
c.*683T>G (n.*683T>G)
n.522T>G
c.674T>G (p.Leu225Arg)
ClinVar dbSNP
15g.26561161A>GCA391462349GABRB3c.851T>C (p.Leu284Pro)
n.894T>C
c.534T>C
c.596T>C (p.Leu199Pro)
c.752T>C (p.Leu251Pro)
c.638T>C (p.Leu213Pro)
c.1019T>C (p.Leu340Pro)
c.*312T>C (n.*312T>C)
n.763T>C
c.*683T>C (n.*683T>C)
n.522T>C
c.674T>C (p.Leu225Pro)
15g.26561161A>TCA391462350GABRB3c.851T>A (p.Leu284Gln)
n.894T>A
c.534T>A
c.596T>A (p.Leu199Gln)
c.752T>A (p.Leu251Gln)
c.638T>A (p.Leu213Gln)
c.1019T>A (p.Leu340Gln)
c.*312T>A (n.*312T>A)
n.763T>A
c.*683T>A (n.*683T>A)
n.522T>A
c.674T>A (p.Leu225Gln)
15g.26561162G>ACA489238799GABRB3c.850C>T (p.Leu284=)
n.893C>T
c.533C>T
c.595C>T (p.Leu199=)
c.751C>T (p.Leu251=)
c.637C>T (p.Leu213=)
c.1018C>T (p.Leu340=)
c.*311C>T (n.*311C>T)
n.762C>T
c.*682C>T (n.*682C>T)
n.521C>T
c.673C>T (p.Leu225=)
15g.26561162G>CCA391462352GABRB3c.850C>G (p.Leu284Val)
n.893C>G
c.533C>G
c.595C>G (p.Leu199Val)
c.751C>G (p.Leu251Val)
c.637C>G (p.Leu213Val)
c.1018C>G (p.Leu340Val)
c.*311C>G (n.*311C>G)
n.762C>G
c.*682C>G (n.*682C>G)
n.521C>G
c.673C>G (p.Leu225Val)
15g.26561162G>TCA391462353GABRB3c.850C>A (p.Leu284Met)
n.893C>A
c.533C>A
c.595C>A (p.Leu199Met)
c.751C>A (p.Leu251Met)
c.637C>A (p.Leu213Met)
c.1018C>A (p.Leu340Met)
c.*311C>A (n.*311C>A)
n.762C>A
c.*682C>A (n.*682C>A)
n.521C>A
c.673C>A (p.Leu225Met)
15g.26561163C>ACA489238800GABRB3c.849G>T (p.Val283=)
n.892G>T
c.532G>T
c.594G>T (p.Val198=)
c.750G>T (p.Val250=)
c.636G>T (p.Val212=)
c.1017G>T (p.Val339=)
c.*310G>T (n.*310G>T)
n.761G>T
c.*681G>T (n.*681G>T)
n.520G>T
c.672G>T (p.Val224=)
15g.26561163C>GCA489238801GABRB3c.849G>C (p.Val283=)
n.892G>C
c.532G>C
c.594G>C (p.Val198=)
c.750G>C (p.Val250=)
c.636G>C (p.Val212=)
c.1017G>C (p.Val339=)
c.*310G>C (n.*310G>C)
n.761G>C
c.*681G>C (n.*681G>C)
n.520G>C
c.672G>C (p.Val224=)
15g.26561163C>TCA489238802GABRB3c.849G>A (p.Val283=)
n.892G>A
c.532G>A
c.594G>A (p.Val198=)
c.750G>A (p.Val250=)
c.636G>A (p.Val212=)
c.1017G>A (p.Val339=)
c.*310G>A (n.*310G>A)
n.761G>A
c.*681G>A (n.*681G>A)
n.520G>A
c.672G>A (p.Val224=)
15g.26561165_26561166delCA2575651428GABRB3c.848_849del (p.Val283AlafsTer24)
n.891_892del
c.531_532del
c.593_594del (p.Val198AlafsTer24)
c.749_750del (p.Val250AlafsTer24)
c.635_636del (p.Val212AlafsTer24)
c.1016_1017del (p.Val339AlafsTer24)
c.*309_*310del (n.*309_*310del)
n.760_761del
c.*680_*681del (n.*680_*681del)
n.519_520del
c.671_672del (p.Val224AlafsTer24)
15g.26561164A>CCA391462354GABRB3c.848T>G (p.Val283Gly)
n.891T>G
c.531T>G
c.593T>G (p.Val198Gly)
c.749T>G (p.Val250Gly)
c.635T>G (p.Val212Gly)
c.1016T>G (p.Val339Gly)
c.*309T>G (n.*309T>G)
n.760T>G
c.*680T>G (n.*680T>G)
n.519T>G
c.671T>G (p.Val224Gly)
15g.26561164A>GCA391462355GABRB3c.848T>C (p.Val283Ala)
n.891T>C
c.531T>C
c.593T>C (p.Val198Ala)
c.749T>C (p.Val250Ala)
c.635T>C (p.Val212Ala)
c.1016T>C (p.Val339Ala)
c.*309T>C (n.*309T>C)
n.760T>C
c.*680T>C (n.*680T>C)
n.519T>C
c.671T>C (p.Val224Ala)
15g.26561164A>TCA391462356GABRB3c.848T>A (p.Val283Glu)
n.891T>A
c.531T>A
c.593T>A (p.Val198Glu)
c.749T>A (p.Val250Glu)
c.635T>A (p.Val212Glu)
c.1016T>A (p.Val339Glu)
c.*309T>A (n.*309T>A)
n.760T>A
c.*680T>A (n.*680T>A)
n.519T>A
c.671T>A (p.Val224Glu)
15g.26561165C>ACA391462359GABRB3c.847G>T (p.Val283Leu)
n.890G>T
c.530G>T
c.592G>T (p.Val198Leu)
c.748G>T (p.Val250Leu)
c.634G>T (p.Val212Leu)
c.1015G>T (p.Val339Leu)
c.*308G>T (n.*308G>T)
n.759G>T
c.*679G>T (n.*679G>T)
n.518G>T
c.670G>T (p.Val224Leu)
15g.26561165C=CA2165747238GABRB3c.847G= (p.Val283=)
n.890G=
c.530G=
c.592G= (p.Val198=)
c.748G= (p.Val250=)
c.634G= (p.Val212=)
c.1015G= (p.Val339=)
c.*308G= (n.*308G=)
n.759G=
c.*679G= (n.*679G=)
n.518G=
c.670G= (p.Val224=)
15g.26561165C>GCA391462357GABRB3c.847G>C (p.Val283Leu)
n.890G>C
c.530G>C
c.592G>C (p.Val198Leu)
c.748G>C (p.Val250Leu)
c.634G>C (p.Val212Leu)
c.1015G>C (p.Val339Leu)
c.*308G>C (n.*308G>C)
n.759G>C
c.*679G>C (n.*679G>C)
n.518G>C
c.670G>C (p.Val224Leu)
15g.26561165C>TCA391462358GABRB3c.847G>A (p.Val283Met)
n.890G>A
c.530G>A
c.592G>A (p.Val198Met)
c.748G>A (p.Val250Met)
c.634G>A (p.Val212Met)
c.1015G>A (p.Val339Met)
c.*308G>A (n.*308G>A)
n.759G>A
c.*679G>A (n.*679G>A)
n.518G>A
c.670G>A (p.Val224Met)
ClinVar dbSNP gnomAD v3 gnomAD v4
15g.26561166A>CCA489238803GABRB3c.846T>G (p.Thr282=)
n.889T>G
c.529T>G
c.591T>G (p.Thr197=)
c.747T>G (p.Thr249=)
c.633T>G (p.Thr211=)
c.1014T>G (p.Thr338=)
c.*307T>G (n.*307T>G)
n.758T>G
c.*678T>G (n.*678T>G)
n.517T>G
c.669T>G (p.Thr223=)
15g.26561166A>GCA489238805GABRB3c.846T>C (p.Thr282=)
n.889T>C
c.529T>C
c.591T>C (p.Thr197=)
c.747T>C (p.Thr249=)
c.633T>C (p.Thr211=)
c.1014T>C (p.Thr338=)
c.*307T>C (n.*307T>C)
n.758T>C
c.*678T>C (n.*678T>C)
n.517T>C
c.669T>C (p.Thr223=)
15g.26561166A>TCA489238804GABRB3c.846T>A (p.Thr282=)
n.889T>A
c.529T>A
c.591T>A (p.Thr197=)
c.747T>A (p.Thr249=)
c.633T>A (p.Thr211=)
c.1014T>A (p.Thr338=)
c.*307T>A (n.*307T>A)
n.758T>A
c.*678T>A (n.*678T>A)
n.517T>A
c.669T>A (p.Thr223=)
15g.26561167G>ACA391462360GABRB3c.845C>T (p.Thr282Ile)
n.888C>T
c.528C>T
c.590C>T (p.Thr197Ile)
c.746C>T (p.Thr249Ile)
c.632C>T (p.Thr211Ile)
c.1013C>T (p.Thr338Ile)
c.*306C>T (n.*306C>T)
n.757C>T
c.*677C>T (n.*677C>T)
n.516C>T
c.668C>T (p.Thr223Ile)
ClinVar
15g.26561167G>CCA391462361GABRB3c.845C>G (p.Thr282Ser)
n.888C>G
c.528C>G
c.590C>G (p.Thr197Ser)
c.746C>G (p.Thr249Ser)
c.632C>G (p.Thr211Ser)
c.1013C>G (p.Thr338Ser)
c.*306C>G (n.*306C>G)
n.757C>G
c.*677C>G (n.*677C>G)
n.516C>G
c.668C>G (p.Thr223Ser)
15g.26561167G>TCA391462362GABRB3c.845C>A (p.Thr282Asn)
n.888C>A
c.528C>A
c.590C>A (p.Thr197Asn)
c.746C>A (p.Thr249Asn)
c.632C>A (p.Thr211Asn)
c.1013C>A (p.Thr338Asn)
c.*306C>A (n.*306C>A)
n.757C>A
c.*677C>A (n.*677C>A)
n.516C>A
c.668C>A (p.Thr223Asn)
COSMIC COSMIC COSMIC
15g.26561168T>ACA391462363GABRB3c.844A>T (p.Thr282Ser)
n.887A>T
c.527A>T
c.589A>T (p.Thr197Ser)
c.745A>T (p.Thr249Ser)
c.631A>T (p.Thr211Ser)
c.1012A>T (p.Thr338Ser)
c.*305A>T (n.*305A>T)
n.756A>T
c.*676A>T (n.*676A>T)
n.515A>T
c.667A>T (p.Thr223Ser)
15g.26561168T>CCA391462364GABRB3c.844A>G (p.Thr282Ala)
n.887A>G
c.527A>G
c.589A>G (p.Thr197Ala)
c.745A>G (p.Thr249Ala)
c.631A>G (p.Thr211Ala)
c.1012A>G (p.Thr338Ala)
c.*305A>G (n.*305A>G)
n.756A>G
c.*676A>G (n.*676A>G)
n.515A>G
c.667A>G (p.Thr223Ala)
ClinVar
15g.26561168T>GCA391462365GABRB3c.844A>C (p.Thr282Pro)
n.887A>C
c.527A>C
c.589A>C (p.Thr197Pro)
c.745A>C (p.Thr249Pro)
c.631A>C (p.Thr211Pro)
c.1012A>C (p.Thr338Pro)
c.*305A>C (n.*305A>C)
n.756A>C
c.*676A>C (n.*676A>C)
n.515A>C
c.667A>C (p.Thr223Pro)
15g.26561169T>ACA489238806GABRB3c.843A>T (p.Thr281=)
n.886A>T
c.526A>T
c.588A>T (p.Thr196=)
c.744A>T (p.Thr248=)
c.630A>T (p.Thr210=)
c.1011A>T (p.Thr337=)
c.*304A>T (n.*304A>T)
n.755A>T
c.*675A>T (n.*675A>T)
n.514A>T
c.666A>T (p.Thr222=)
15g.26561169T>CCA489238807GABRB3c.843A>G (p.Thr281=)
n.886A>G
c.526A>G
c.588A>G (p.Thr196=)
c.744A>G (p.Thr248=)
c.630A>G (p.Thr210=)
c.1011A>G (p.Thr337=)
c.*304A>G (n.*304A>G)
n.755A>G
c.*675A>G (n.*675A>G)
n.514A>G
c.666A>G (p.Thr222=)
15g.26561169T>GCA489238808GABRB3c.843A>C (p.Thr281=)
n.886A>C
c.526A>C
c.588A>C (p.Thr196=)
c.744A>C (p.Thr248=)
c.630A>C (p.Thr210=)
c.1011A>C (p.Thr337=)
c.*304A>C (n.*304A>C)
n.755A>C
c.*675A>C (n.*675A>C)
n.514A>C
c.666A>C (p.Thr222=)
15g.26561170G>ACA391462366GABRB3c.842C>T (p.Thr281Ile)
n.885C>T
c.525C>T
c.587C>T (p.Thr196Ile)
c.743C>T (p.Thr248Ile)
c.629C>T (p.Thr210Ile)
c.1010C>T (p.Thr337Ile)
c.*303C>T (n.*303C>T)
n.754C>T
c.*674C>T (n.*674C>T)
n.513C>T
c.665C>T (p.Thr222Ile)
15g.26561170G>CCA391462367GABRB3c.842C>G (p.Thr281Arg)
n.885C>G
c.525C>G
c.587C>G (p.Thr196Arg)
c.743C>G (p.Thr248Arg)
c.629C>G (p.Thr210Arg)
c.1010C>G (p.Thr337Arg)
c.*303C>G (n.*303C>G)
n.754C>G
c.*674C>G (n.*674C>G)
n.513C>G
c.665C>G (p.Thr222Arg)
15g.26561170G>TCA391462368GABRB3c.842C>A (p.Thr281Lys)
n.885C>A
c.525C>A
c.587C>A (p.Thr196Lys)
c.743C>A (p.Thr248Lys)
c.629C>A (p.Thr210Lys)
c.1010C>A (p.Thr337Lys)
c.*303C>A (n.*303C>A)
n.754C>A
c.*674C>A (n.*674C>A)
n.513C>A
c.665C>A (p.Thr222Lys)
15g.26561171T>ACA391462369GABRB3c.841A>T (p.Thr281Ser)
n.884A>T
c.524A>T
c.586A>T (p.Thr196Ser)
c.742A>T (p.Thr248Ser)
c.628A>T (p.Thr210Ser)
c.1009A>T (p.Thr337Ser)
c.*302A>T (n.*302A>T)
n.753A>T
c.*673A>T (n.*673A>T)
n.512A>T
c.664A>T (p.Thr222Ser)
15g.26561171T>CCA391462370GABRB3c.841A>G (p.Thr281Ala)
n.884A>G
c.524A>G
c.586A>G (p.Thr196Ala)
c.742A>G (p.Thr248Ala)
c.628A>G (p.Thr210Ala)
c.1009A>G (p.Thr337Ala)
c.*302A>G (n.*302A>G)
n.753A>G
c.*673A>G (n.*673A>G)
n.512A>G
c.664A>G (p.Thr222Ala)
ClinVar dbSNP
15g.26561171T>GCA391462371GABRB3c.841A>C (p.Thr281Pro)
n.884A>C
c.524A>C
c.586A>C (p.Thr196Pro)
c.742A>C (p.Thr248Pro)
c.628A>C (p.Thr210Pro)
c.1009A>C (p.Thr337Pro)
c.*302A>C (n.*302A>C)
n.753A>C
c.*673A>C (n.*673A>C)
n.512A>C
c.664A>C (p.Thr222Pro)
15g.26561171T=CA2165747245GABRB3c.841A= (p.Thr281=)
n.884A=
c.524A=
c.586A= (p.Thr196=)
c.742A= (p.Thr248=)
c.628A= (p.Thr210=)
c.1009A= (p.Thr337=)
c.*302A= (n.*302A=)
n.753A=
c.*673A= (n.*673A=)
n.512A=
c.664A= (p.Thr222=)
15g.26561172G>ACA268154595GABRB3c.840C>T (p.Ile280=)
n.883C>T
c.523C>T
c.585C>T (p.Ile195=)
c.741C>T (p.Ile247=)
c.627C>T (p.Ile209=)
c.1008C>T (p.Ile336=)
c.*301C>T (n.*301C>T)
n.752C>T
c.*672C>T (n.*672C>T)
n.511C>T
c.663C>T (p.Ile221=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
15g.26561172G>CCA391462372GABRB3c.840C>G (p.Ile280Met)
n.883C>G
c.523C>G
c.585C>G (p.Ile195Met)
c.741C>G (p.Ile247Met)
c.627C>G (p.Ile209Met)
c.1008C>G (p.Ile336Met)
c.*301C>G (n.*301C>G)
n.752C>G
c.*672C>G (n.*672C>G)
n.511C>G
c.663C>G (p.Ile221Met)
15g.26561172G=CA2165747251GABRB3c.840C= (p.Ile280=)
n.883C=
c.523C=
c.585C= (p.Ile195=)
c.741C= (p.Ile247=)
c.627C= (p.Ile209=)
c.1008C= (p.Ile336=)
c.*301C= (n.*301C=)
n.752C=
c.*672C= (n.*672C=)
n.511C=
c.663C= (p.Ile221=)
15g.26561172G>TCA268154596GABRB3c.840C>A (p.Ile280=)
n.883C>A
c.523C>A
c.585C>A (p.Ile195=)
c.741C>A (p.Ile247=)
c.627C>A (p.Ile209=)
c.1008C>A (p.Ile336=)
c.*301C>A (n.*301C>A)
n.752C>A
c.*672C>A (n.*672C>A)
n.511C>A
c.663C>A (p.Ile221=)
dbSNP gnomAD v4
15g.26561173A>CCA391462373GABRB3c.839T>G (p.Ile280Ser)
n.882T>G
c.522T>G
c.584T>G (p.Ile195Ser)
c.740T>G (p.Ile247Ser)
c.626T>G (p.Ile209Ser)
c.1007T>G (p.Ile336Ser)
c.*300T>G (n.*300T>G)
n.751T>G
c.*671T>G (n.*671T>G)
n.510T>G
c.662T>G (p.Ile221Ser)
15g.26561173A>GCA391462375GABRB3c.839T>C (p.Ile280Thr)
n.882T>C
c.522T>C
c.584T>C (p.Ile195Thr)
c.740T>C (p.Ile247Thr)
c.626T>C (p.Ile209Thr)
c.1007T>C (p.Ile336Thr)
c.*300T>C (n.*300T>C)
n.751T>C
c.*671T>C (n.*671T>C)
n.510T>C
c.662T>C (p.Ile221Thr)
dbSNP
15g.26561173A>TCA391462374GABRB3c.839T>A (p.Ile280Asn)
n.882T>A
c.522T>A
c.584T>A (p.Ile195Asn)
c.740T>A (p.Ile247Asn)
c.626T>A (p.Ile209Asn)
c.1007T>A (p.Ile336Asn)
c.*300T>A (n.*300T>A)
n.751T>A
c.*671T>A (n.*671T>A)
n.510T>A
c.662T>A (p.Ile221Asn)
15g.26561174T>ACA16042907GABRB3c.838A>T (p.Ile280Phe)
n.881A>T
c.521A>T
c.583A>T (p.Ile195Phe)
c.739A>T (p.Ile247Phe)
c.625A>T (p.Ile209Phe)
c.1006A>T (p.Ile336Phe)
c.*299A>T (n.*299A>T)
n.750A>T
c.*670A>T (n.*670A>T)
n.509A>T
c.661A>T (p.Ile221Phe)
ClinVar dbSNP
15g.26561174T>CCA391462376GABRB3c.838A>G (p.Ile280Val)
n.881A>G
c.521A>G
c.583A>G (p.Ile195Val)
c.739A>G (p.Ile247Val)
c.625A>G (p.Ile209Val)
c.1006A>G (p.Ile336Val)
c.*299A>G (n.*299A>G)
n.750A>G
c.*670A>G (n.*670A>G)
n.509A>G
c.661A>G (p.Ile221Val)
15g.26561174T>GCA391462377GABRB3c.838A>C (p.Ile280Leu)
n.881A>C
c.521A>C
c.583A>C (p.Ile195Leu)
c.739A>C (p.Ile247Leu)
c.625A>C (p.Ile209Leu)
c.1006A>C (p.Ile336Leu)
c.*299A>C (n.*299A>C)
n.750A>C
c.*670A>C (n.*670A>C)
n.509A>C
c.661A>C (p.Ile221Leu)
15g.26561174T=CA2165747258GABRB3c.838A= (p.Ile280=)
n.881A=
c.521A=
c.583A= (p.Ile195=)
c.739A= (p.Ile247=)
c.625A= (p.Ile209=)
c.1006A= (p.Ile336=)
c.*299A= (n.*299A=)
n.750A=
c.*670A= (n.*670A=)
n.509A=
c.661A= (p.Ile221=)
15g.26561175C>ACA7437345GABRB3c.837G>T (p.Gly279=)
n.880G>T
c.520G>T
c.582G>T (p.Gly194=)
c.738G>T (p.Gly246=)
c.624G>T (p.Gly208=)
c.1005G>T (p.Gly335=)
c.*298G>T (n.*298G>T)
n.749G>T
c.*669G>T (n.*669G>T)
n.508G>T
c.660G>T (p.Gly220=)
dbSNP ExAC gnomAD v2 gnomAD v4
15g.26561175C=CA2165747266GABRB3c.837G= (p.Gly279=)
n.880G=
c.520G=
c.582G= (p.Gly194=)
c.738G= (p.Gly246=)
c.624G= (p.Gly208=)
c.1005G= (p.Gly335=)
c.*298G= (n.*298G=)
n.749G=
c.*669G= (n.*669G=)
n.508G=
c.660G= (p.Gly220=)
15g.26561175C>GCA489238809GABRB3c.837G>C (p.Gly279=)
n.880G>C
c.520G>C
c.582G>C (p.Gly194=)
c.738G>C (p.Gly246=)
c.624G>C (p.Gly208=)
c.1005G>C (p.Gly335=)
c.*298G>C (n.*298G>C)
n.749G>C
c.*669G>C (n.*669G>C)
n.508G>C
c.660G>C (p.Gly220=)
COSMIC COSMIC COSMIC
15g.26561175C>TCA489238810GABRB3c.837G>A (p.Gly279=)
n.880G>A
c.520G>A
c.582G>A (p.Gly194=)
c.738G>A (p.Gly246=)
c.624G>A (p.Gly208=)
c.1005G>A (p.Gly335=)
c.*298G>A (n.*298G>A)
n.749G>A
c.*669G>A (n.*669G>A)
n.508G>A
c.660G>A (p.Gly220=)
15g.26561176C>ACA391462378GABRB3c.836G>T (p.Gly279Val)
n.879G>T
c.519G>T
c.581G>T (p.Gly194Val)
c.737G>T (p.Gly246Val)
c.623G>T (p.Gly208Val)
c.1004G>T (p.Gly335Val)
c.*297G>T (n.*297G>T)
n.748G>T
c.*668G>T (n.*668G>T)
n.507G>T
c.659G>T (p.Gly220Val)
15g.26561176C>GCA391462379GABRB3c.836G>C (p.Gly279Ala)
n.879G>C
c.519G>C
c.581G>C (p.Gly194Ala)
c.737G>C (p.Gly246Ala)
c.623G>C (p.Gly208Ala)
c.1004G>C (p.Gly335Ala)
c.*297G>C (n.*297G>C)
n.748G>C
c.*668G>C (n.*668G>C)
n.507G>C
c.659G>C (p.Gly220Ala)
15g.26561176C>TCA391462380GABRB3c.836G>A (p.Gly279Glu)
n.879G>A
c.519G>A
c.581G>A (p.Gly194Glu)
c.737G>A (p.Gly246Glu)
c.623G>A (p.Gly208Glu)
c.1004G>A (p.Gly335Glu)
c.*297G>A (n.*297G>A)
n.748G>A
c.*668G>A (n.*668G>A)
n.507G>A
c.659G>A (p.Gly220Glu)
15g.26561177C>ACA391462381GABRB3c.836-1G>T (n.836-1G>T)
n.879-1G>T
c.519-1G>T
c.581-1G>T (n.581-1G>T)
c.737-1G>T (n.737-1G>T)
c.623-1G>T (n.623-1G>T)
c.1004-1G>T (n.1004-1G>T)
c.*297-1G>T (n.*297-1G>T)
n.748-1G>T
c.*668-1G>T (n.*668-1G>T)
n.507-1G>T
c.659-1G>T (n.659-1G>T)
15g.26561177C>GCA391462382GABRB3c.836-1G>C (n.836-1G>C)
n.879-1G>C
c.519-1G>C
c.581-1G>C (n.581-1G>C)
c.737-1G>C (n.737-1G>C)
c.623-1G>C (n.623-1G>C)
c.1004-1G>C (n.1004-1G>C)
c.*297-1G>C (n.*297-1G>C)
n.748-1G>C
c.*668-1G>C (n.*668-1G>C)
n.507-1G>C
c.659-1G>C (n.659-1G>C)
15g.26561177C>TCA391462383GABRB3c.836-1G>A (n.836-1G>A)
n.879-1G>A
c.519-1G>A
c.581-1G>A (n.581-1G>A)
c.737-1G>A (n.737-1G>A)
c.623-1G>A (n.623-1G>A)
c.1004-1G>A (n.1004-1G>A)
c.*297-1G>A (n.*297-1G>A)
n.748-1G>A
c.*668-1G>A (n.*668-1G>A)
n.507-1G>A
c.659-1G>A (n.659-1G>A)
COSMIC COSMIC COSMIC
15g.26561178T>ACA391462384GABRB3c.836-2A>T (n.836-2A>T)
n.879-2A>T
c.519-2A>T
c.581-2A>T (n.581-2A>T)
c.737-2A>T (n.737-2A>T)
c.623-2A>T (n.623-2A>T)
c.1004-2A>T (n.1004-2A>T)
c.*297-2A>T (n.*297-2A>T)
n.748-2A>T
c.*668-2A>T (n.*668-2A>T)
n.507-2A>T
c.659-2A>T (n.659-2A>T)
15g.26561178T>CCA391462385GABRB3c.836-2A>G (n.836-2A>G)
n.879-2A>G
c.519-2A>G
c.581-2A>G (n.581-2A>G)
c.737-2A>G (n.737-2A>G)
c.623-2A>G (n.623-2A>G)
c.1004-2A>G (n.1004-2A>G)
c.*297-2A>G (n.*297-2A>G)
n.748-2A>G
c.*668-2A>G (n.*668-2A>G)
n.507-2A>G
c.659-2A>G (n.659-2A>G)
gnomAD v4
15g.26561178T>GCA391462386GABRB3c.836-2A>C (n.836-2A>C)
n.879-2A>C
c.519-2A>C
c.581-2A>C (n.581-2A>C)
c.737-2A>C (n.737-2A>C)
c.623-2A>C (n.623-2A>C)
c.1004-2A>C (n.1004-2A>C)
c.*297-2A>C (n.*297-2A>C)
n.748-2A>C
c.*668-2A>C (n.*668-2A>C)
n.507-2A>C
c.659-2A>C (n.659-2A>C)
15g.26561180G>ACA617090536GABRB3c.836-4C>T (n.836-4C>T)
n.879-4C>T
c.519-4C>T
c.581-4C>T (n.581-4C>T)
c.737-4C>T (n.737-4C>T)
c.623-4C>T (n.623-4C>T)
c.1004-4C>T (n.1004-4C>T)
c.*297-4C>T (n.*297-4C>T)
n.748-4C>T
c.*668-4C>T (n.*668-4C>T)
n.507-4C>T
c.659-4C>T (n.659-4C>T)
dbSNP gnomAD v2 gnomAD v4
15g.26561180G>CCA2165747269GABRB3c.836-4C>G (n.836-4C>G)
n.879-4C>G
c.519-4C>G
c.581-4C>G (n.581-4C>G)
c.737-4C>G (n.737-4C>G)
c.623-4C>G (n.623-4C>G)
c.1004-4C>G (n.1004-4C>G)
c.*297-4C>G (n.*297-4C>G)
n.748-4C>G
c.*668-4C>G (n.*668-4C>G)
n.507-4C>G
c.659-4C>G (n.659-4C>G)
dbSNP
15g.26561180G=CA2165747270GABRB3c.836-4C= (n.836-4C=)
n.879-4C=
c.519-4C=
c.581-4C= (n.581-4C=)
c.737-4C= (n.737-4C=)
c.623-4C= (n.623-4C=)
c.1004-4C= (n.1004-4C=)
c.*297-4C= (n.*297-4C=)
n.748-4C=
c.*668-4C= (n.*668-4C=)
n.507-4C=
c.659-4C= (n.659-4C=)
15g.26561181A>GCA2627356975GABRB3c.836-5T>C (n.836-5T>C)
n.879-5T>C
c.519-5T>C
c.581-5T>C (n.581-5T>C)
c.737-5T>C (n.737-5T>C)
c.623-5T>C (n.623-5T>C)
c.1004-5T>C (n.1004-5T>C)
c.*297-5T>C (n.*297-5T>C)
n.748-5T>C
c.*668-5T>C (n.*668-5T>C)
n.507-5T>C
c.659-5T>C (n.659-5T>C)
gnomAD v4
15g.26561181_26561185delinsAAAAGCA2165747272GABRB3c.836-9_836-5delinsCTTTT (n.836-9_836-5delinsCTTTT)
n.879-9_879-5delinsCTTTT
c.519-9_519-5delinsCTTTT
c.581-9_581-5delinsCTTTT (n.581-9_581-5delinsCTTTT)
c.737-9_737-5delinsCTTTT (n.737-9_737-5delinsCTTTT)
c.623-9_623-5delinsCTTTT (n.623-9_623-5delinsCTTTT)
c.1004-9_1004-5delinsCTTTT (n.1004-9_1004-5delinsCTTTT)
c.*297-9_*297-5delinsCTTTT (n.*297-9_*297-5delinsCTTTT)
n.748-9_748-5delinsCTTTT
c.*668-9_*668-5delinsCTTTT (n.*668-9_*668-5delinsCTTTT)
n.507-9_507-5delinsCTTTT
c.659-9_659-5delinsCTTTT (n.659-9_659-5delinsCTTTT)
15g.26561182A>CCA2627356978GABRB3c.836-6T>G (n.836-6T>G)
n.879-6T>G
c.519-6T>G
c.581-6T>G (n.581-6T>G)
c.737-6T>G (n.737-6T>G)
c.623-6T>G (n.623-6T>G)
c.1004-6T>G (n.1004-6T>G)
c.*297-6T>G (n.*297-6T>G)
n.748-6T>G
c.*668-6T>G (n.*668-6T>G)
n.507-6T>G
c.659-6T>G (n.659-6T>G)
gnomAD v4
15g.26561185_26561188delCA2165747275GABRB3c.836-9_836-6del (n.836-9_836-6del)
n.879-9_879-6del
c.519-9_519-6del
c.581-9_581-6del (n.581-9_581-6del)
c.737-9_737-6del (n.737-9_737-6del)
c.623-9_623-6del (n.623-9_623-6del)
c.1004-9_1004-6del (n.1004-9_1004-6del)
c.*297-9_*297-6del (n.*297-9_*297-6del)
n.748-9_748-6del
c.*668-9_*668-6del (n.*668-9_*668-6del)
n.507-9_507-6del
c.659-9_659-6del (n.659-9_659-6del)
dbSNP gnomAD v4
15g.26561185_26561186delCA2575651429GABRB3c.836-9_836-8del (n.836-9_836-8del)
n.879-9_879-8del
c.519-9_519-8del
c.581-9_581-8del (n.581-9_581-8del)
c.737-9_737-8del (n.737-9_737-8del)
c.623-9_623-8del (n.623-9_623-8del)
c.1004-9_1004-8del (n.1004-9_1004-8del)
c.*297-9_*297-8del (n.*297-9_*297-8del)
n.748-9_748-8del
c.*668-9_*668-8del (n.*668-9_*668-8del)
n.507-9_507-8del
c.659-9_659-8del (n.659-9_659-8del)
15g.26561185G>CCA2165747281GABRB3c.836-9C>G (n.836-9C>G)
n.879-9C>G
c.519-9C>G
c.581-9C>G (n.581-9C>G)
c.737-9C>G (n.737-9C>G)
c.623-9C>G (n.623-9C>G)
c.1004-9C>G (n.1004-9C>G)
c.*297-9C>G (n.*297-9C>G)
n.748-9C>G
c.*668-9C>G (n.*668-9C>G)
n.507-9C>G
c.659-9C>G (n.659-9C>G)
dbSNP
15g.26561185G=CA2165747278GABRB3c.836-9C= (n.836-9C=)
n.879-9C=
c.519-9C=
c.581-9C= (n.581-9C=)
c.737-9C= (n.737-9C=)
c.623-9C= (n.623-9C=)
c.1004-9C= (n.1004-9C=)
c.*297-9C= (n.*297-9C=)
n.748-9C=
c.*668-9C= (n.*668-9C=)
n.507-9C=
c.659-9C= (n.659-9C=)
15g.26561185G>TCA617090537GABRB3c.836-9C>A (n.836-9C>A)
n.879-9C>A
c.519-9C>A
c.581-9C>A (n.581-9C>A)
c.737-9C>A (n.737-9C>A)
c.623-9C>A (n.623-9C>A)
c.1004-9C>A (n.1004-9C>A)
c.*297-9C>A (n.*297-9C>A)
n.748-9C>A
c.*668-9C>A (n.*668-9C>A)
n.507-9C>A
c.659-9C>A (n.659-9C>A)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
15g.26561186A=CA2165747284GABRB3c.836-10T= (n.836-10T=)
n.879-10T=
c.519-10T=
c.581-10T= (n.581-10T=)
c.737-10T= (n.737-10T=)
c.623-10T= (n.623-10T=)
c.1004-10T= (n.1004-10T=)
c.*297-10T= (n.*297-10T=)
n.748-10T=
c.*668-10T= (n.*668-10T=)
n.507-10T=
c.659-10T= (n.659-10T=)
15g.26561186A>GCA915946479GABRB3c.836-10T>C (n.836-10T>C)
n.879-10T>C
c.519-10T>C
c.581-10T>C (n.581-10T>C)
c.737-10T>C (n.737-10T>C)
c.623-10T>C (n.623-10T>C)
c.1004-10T>C (n.1004-10T>C)
c.*297-10T>C (n.*297-10T>C)
n.748-10T>C
c.*668-10T>C (n.*668-10T>C)
n.507-10T>C
c.659-10T>C (n.659-10T>C)
ClinVar dbSNP gnomAD v4
15g.26561188delCA2627356979GABRB3c.836-10del (n.836-10del)
n.879-10del
c.519-10del
c.581-10del (n.581-10del)
c.737-10del (n.737-10del)
c.623-10del (n.623-10del)
c.1004-10del (n.1004-10del)
c.*297-10del (n.*297-10del)
n.748-10del
c.*668-10del (n.*668-10del)
n.507-10del
c.659-10del (n.659-10del)
gnomAD v4

Number of alleles fetched