Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
15 | g.26561086T>A | CA391462045 | GABRB3 | c.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) | |
15 | g.26561086T>C | CA391462046 | GABRB3 | c.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) | |
15 | g.26561086T>G | CA391462047 | GABRB3 | c.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) | |
15 | g.26561087A>C | CA391462048 | GABRB3 | c.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) | |
15 | g.26561087A>G | CA391462049 | GABRB3 | c.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) | |
15 | g.26561087A>T | CA391462050 | GABRB3 | c.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) | |
15 | g.26561088C>A | CA391462052 | GABRB3 | c.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 |
15 | g.26561088C>G | CA391462054 | GABRB3 | c.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) | |
15 | g.26561088C>T | CA391462056 | GABRB3 | c.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) | |
15 | g.26561089A= | CA2165747081 | GABRB3 | c.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=) | |
15 | g.26561089A>C | CA391462060 | GABRB3 | c.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 |
15 | g.26561089A>G | CA7437339 | GABRB3 | c.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 |
15 | g.26561089A>T | CA391462058 | GABRB3 | c.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) | |
15 | g.26561090T>A | CA391462063 | GABRB3 | c.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) | |
15 | g.26561090T>C | CA391462065 | GABRB3 | c.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) | |
15 | g.26561090T>G | CA391462066 | GABRB3 | c.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) | |
15 | g.26561091G>A | CA489238750 | GABRB3 | c.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 |
15 | g.26561091G>C | CA391462067 | GABRB3 | c.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) | |
15 | g.26561091G= | CA2165747084 | GABRB3 | c.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=) | |
15 | g.26561091G>T | CA391462068 | GABRB3 | c.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) | |
15 | g.26561092T>A | CA391462081 | GABRB3 | c.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) | |
15 | g.26561092T>C | CA391462077 | GABRB3 | c.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) | |
15 | g.26561092T>G | CA391462078 | GABRB3 | c.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) | |
15 | g.26561093C>A | CA391462083 | GABRB3 | c.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) | |
15 | g.26561093C>G | CA391462085 | GABRB3 | c.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) | |
15 | g.26561093C>T | CA391462086 | GABRB3 | c.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) | |
15 | g.26561094A= | CA2165747087 | GABRB3 | c.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=) | |
15 | g.26561094A>C | CA391462087 | GABRB3 | c.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) | |
15 | g.26561094A>G | CA489238751 | GABRB3 | c.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=) | |
15 | g.26561094A>T | CA7437340 | GABRB3 | c.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 |
15 | g.26561095A= | CA2165747090 | GABRB3 | c.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=) | |
15 | g.26561095A>C | CA391462090 | GABRB3 | c.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) | |
15 | g.26561095A>G | CA391462095 | GABRB3 | c.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 |
15 | g.26561095A>T | CA391462091 | GABRB3 | c.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) | |
15 | g.26561096T>A | CA391462096 | GABRB3 | c.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) | |
15 | g.26561096T>C | CA391462097 | GABRB3 | c.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 |
15 | g.26561096T>G | CA391462098 | GABRB3 | c.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) | |
15 | g.26561096T= | CA2165747096 | GABRB3 | c.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=) | |
15 | g.26561097G>A | CA489238754 | GABRB3 | c.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 |
15 | g.26561097G>C | CA489238752 | GABRB3 | c.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 |
15 | g.26561097G= | CA2165747099 | GABRB3 | c.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=) | |
15 | g.26561097G>T | CA489238753 | GABRB3 | c.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=) | |
15 | g.26561098G>A | CA391462104 | GABRB3 | c.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 |
15 | g.26561098G>C | CA391462106 | GABRB3 | c.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) | |
15 | g.26561098G= | CA2165747103 | GABRB3 | c.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=) | |
15 | g.26561098G>T | CA391462108 | GABRB3 | c.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 |
15 | g.26561099C>A | CA391462110 | GABRB3 | c.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) | |
15 | g.26561099C= | CA2165747109 | GABRB3 | c.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=) | |
15 | g.26561099C>G | CA391462112 | GABRB3 | c.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) | |
15 | g.26561099C>T | CA10586390 | GABRB3 | c.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 |
15 | g.26561100T>A | CA391462116 | GABRB3 | c.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) | |
15 | g.26561100T>C | CA489238755 | GABRB3 | c.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 |
15 | g.26561100T>G | CA391462118 | GABRB3 | c.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) | |
15 | g.26561101T>A | CA391462121 | GABRB3 | c.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) | |
15 | g.26561101T>C | CA391462122 | GABRB3 | c.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 |
15 | g.26561101T>G | CA391462120 | GABRB3 | c.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) | |
15 | g.26561101T= | CA2165747113 | GABRB3 | c.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=) | |
15 | g.26561102T>A | CA391462126 | GABRB3 | c.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) | |
15 | g.26561102T>C | CA391462123 | GABRB3 | c.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 |
15 | g.26561102T>G | CA391462125 | GABRB3 | c.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 |
15 | g.26561102T= | CA2165747116 | GABRB3 | c.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=) | |
15 | g.26561103G>A | CA489238757 | GABRB3 | c.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 |
15 | g.26561103G>C | CA489238756 | GABRB3 | c.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=) | |
15 | g.26561103G>T | CA489238758 | GABRB3 | c.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=) | |
15 | g.26561104A>C | CA391462128 | GABRB3 | c.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) | |
15 | g.26561104A>G | CA391462130 | GABRB3 | c.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) | |
15 | g.26561104A>T | CA391462131 | GABRB3 | c.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) | |
15 | g.26561105C>A | CA391462132 | GABRB3 | c.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) | |
15 | g.26561105C>G | CA391462134 | GABRB3 | c.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) | |
15 | g.26561105C>T | CA391462135 | GABRB3 | c.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) | |
15 | g.26561106A= | CA2165747120 | GABRB3 | c.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=) | |
15 | g.26561106A>C | CA391462142 | GABRB3 | c.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) | |
15 | g.26561106A>G | CA489238759 | GABRB3 | c.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 |
15 | g.26561106A>T | CA391462143 | GABRB3 | c.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) | |
15 | g.26561107T>A | CA391462144 | GABRB3 | c.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) | |
15 | g.26561107T>C | CA391462145 | GABRB3 | c.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 |
15 | g.26561107T>G | CA391462146 | GABRB3 | c.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 |
15 | g.26561107T= | CA2165747124 | GABRB3 | c.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=) | |
15 | g.26561108A>C | CA391462148 | GABRB3 | c.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) | |
15 | g.26561108A>G | CA391462151 | GABRB3 | c.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) | |
15 | g.26561108A>T | CA391462150 | GABRB3 | c.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) | |
15 | g.26561108_26561146dup | CA2740097231 | GABRB3 | c.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 |
15 | g.26561109G>A | CA489238760 | GABRB3 | c.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=) | |
15 | g.26561109G>C | CA489238762 | GABRB3 | c.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=) | |
15 | g.26561109G>T | CA489238761 | GABRB3 | c.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=) | |
15 | g.26561110G>A | CA391462154 | GABRB3 | c.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 |
15 | g.26561110G>C | CA391462156 | GABRB3 | c.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) | |
15 | g.26561110G= | CA2165747130 | GABRB3 | c.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=) | |
15 | g.26561110G>T | CA391462157 | GABRB3 | c.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 |
15 | g.26561111G>A | CA391462162 | GABRB3 | c.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 |
15 | g.26561111G>C | CA391462165 | GABRB3 | c.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 |
15 | g.26561111G= | CA2165747144 | GABRB3 | c.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=) | |
15 | g.26561111G>T | CA391462167 | GABRB3 | c.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) | |
15 | g.26561112G>A | CA489238763 | GABRB3 | c.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 |
15 | g.26561112G>C | CA391462170 | GABRB3 | c.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) | |
15 | g.26561112G>T | CA489238764 | GABRB3 | c.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=) | |
15 | g.26561113A>C | CA391462178 | GABRB3 | c.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) | |
15 | g.26561113A>G | CA391462179 | GABRB3 | c.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) | |
15 | g.26561113A>T | CA391462181 | GABRB3 | c.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) | |
15 | g.26561114T>A | CA391462184 | GABRB3 | c.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) | |
15 | g.26561114T>C | CA391462185 | GABRB3 | c.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 |
15 | g.26561114T>G | CA391462182 | GABRB3 | c.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 |
15 | g.26561114T= | CA2165747149 | GABRB3 | c.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=) | |
15 | g.26561115T>A | CA391462186 | GABRB3 | c.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) | |
15 | g.26561115T>C | CA489238765 | GABRB3 | c.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=) | |
15 | g.26561115T>G | CA391462187 | GABRB3 | c.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) | |
15 | g.26561116T>A | CA391462188 | GABRB3 | c.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) | |
15 | g.26561116T>C | CA391462189 | GABRB3 | c.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 |
15 | g.26561116T>G | CA391462190 | GABRB3 | c.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) | |
15 | g.26561117T>A | CA391462192 | GABRB3 | c.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) | |
15 | g.26561117T>C | CA391462194 | GABRB3 | c.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) | |
15 | g.26561117T>G | CA391462195 | GABRB3 | c.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 |
15 | g.26561117T= | CA2165747156 | GABRB3 | c.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=) | |
15 | g.26561118G>A | CA7437341 | GABRB3 | c.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 |
15 | g.26561118G>C | CA489238766 | GABRB3 | c.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 |
15 | g.26561118G= | CA2165747159 | GABRB3 | c.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=) | |
15 | g.26561118G>T | CA489238767 | GABRB3 | c.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=) | |
15 | g.26561119G>A | CA391462197 | GABRB3 | c.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) | |
15 | g.26561119G>C | CA391462199 | GABRB3 | c.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) | |
15 | g.26561119G>T | CA391462201 | GABRB3 | c.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) | |
15 | g.26561120G>A | CA391462204 | GABRB3 | c.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 |
15 | g.26561120G>C | CA391462205 | GABRB3 | c.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) | |
15 | g.26561120G>T | CA391462203 | GABRB3 | c.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) | |
15 | g.26561121C>A | CA391462206 | GABRB3 | c.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) | |
15 | g.26561121C>G | CA391462208 | GABRB3 | c.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) | |
15 | g.26561121C>T | CA489238768 | GABRB3 | c.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 |
15 | g.26561122A>C | CA391462213 | GABRB3 | c.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) | |
15 | g.26561122A>G | CA391462219 | GABRB3 | c.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) | |
15 | g.26561122A>T | CA391462220 | GABRB3 | c.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) | |
15 | g.26561123A>C | CA391462223 | GABRB3 | c.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) | |
15 | g.26561123A>G | CA489238769 | GABRB3 | c.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=) | |
15 | g.26561123A>T | CA391462230 | GABRB3 | c.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) | |
15 | g.26561124G>A | CA489238772 | GABRB3 | c.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=) | |
15 | g.26561124G>C | CA489238770 | GABRB3 | c.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=) | |
15 | g.26561124G>T | CA489238771 | GABRB3 | c.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 |
15 | g.26561125G>A | CA391462232 | GABRB3 | c.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) | |
15 | g.26561125G>C | CA391462235 | GABRB3 | c.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) | |
15 | g.26561125G>T | CA391462233 | GABRB3 | c.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) | |
15 | g.26561126T>A | CA391462239 | GABRB3 | c.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) | |
15 | g.26561126T>C | CA391462241 | GABRB3 | c.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) | |
15 | g.26561126T>G | CA391462243 | GABRB3 | c.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) | |
15 | g.26561127C>A | CA7437342 | GABRB3 | c.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 |
15 | g.26561127C= | CA2165747165 | GABRB3 | c.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=) | |
15 | g.26561127C>G | CA391462248 | GABRB3 | c.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) | |
15 | g.26561127C>T | CA489238773 | GABRB3 | c.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 |
15 | g.26561128T>A | CA391462251 | GABRB3 | c.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) | |
15 | g.26561128T>C | CA391462252 | GABRB3 | c.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) | |
15 | g.26561128T>G | CA391462250 | GABRB3 | c.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) | |
15 | g.26561129C>A | CA391462253 | GABRB3 | c.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 |
15 | g.26561129C= | CA2165747170 | GABRB3 | c.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=) | |
15 | g.26561129C>G | CA391462254 | GABRB3 | c.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) | |
15 | g.26561129C>T | CA268154593 | GABRB3 | c.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 |
15 | g.26561130C>A | CA489238774 | GABRB3 | c.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=) | |
15 | g.26561130C>G | CA489238775 | GABRB3 | c.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=) | |
15 | g.26561130C>T | CA489238776 | GABRB3 | c.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 |
15 | g.26561131C>A | CA391462255 | GABRB3 | c.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 |
15 | g.26561131C= | CA2165747174 | GABRB3 | c.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=) | |
15 | g.26561131C>G | CA391462257 | GABRB3 | c.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 |
15 | g.26561131C>T | CA391462259 | GABRB3 | c.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 |
15 | g.26561132G>A | CA7437343 | GABRB3 | c.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 |
15 | g.26561132G>C | CA391462266 | GABRB3 | c.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) | |
15 | g.26561132G= | CA2165747180 | GABRB3 | c.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=) | |
15 | g.26561132G>T | CA489238777 | GABRB3 | c.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=) | |
15 | g.26561133A= | CA2165747185 | GABRB3 | c.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=) | |
15 | g.26561133A>C | CA489238779 | GABRB3 | c.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=) | |
15 | g.26561133A>G | CA489238780 | GABRB3 | c.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 |
15 | g.26561133A>T | CA489238778 | GABRB3 | c.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=) | |
15 | g.26561134A>C | CA391462267 | GABRB3 | c.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) | |
15 | g.26561134A>G | CA391462268 | GABRB3 | c.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 |
15 | g.26561134A>T | CA391462269 | GABRB3 | c.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) | |
15 | g.26561135G>A | CA391462272 | GABRB3 | c.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) | |
15 | g.26561135G>C | CA391462273 | GABRB3 | c.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) | |
15 | g.26561135G>T | CA391462274 | GABRB3 | c.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) | |
15 | g.26561136G>A | CA489238781 | GABRB3 | c.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 |
15 | g.26561136G>C | CA391462276 | GABRB3 | c.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) | |
15 | g.26561136G= | CA2165747187 | GABRB3 | c.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=) | |
15 | g.26561136G>T | CA391462275 | GABRB3 | c.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) | |
15 | g.26561137T>A | CA391462277 | GABRB3 | c.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) | |
15 | g.26561137T>C | CA391462278 | GABRB3 | c.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) | |
15 | g.26561137T>G | CA391462279 | GABRB3 | c.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) | |
15 | g.26561138G>A | CA391462280 | GABRB3 | c.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) | |
15 | g.26561138G>C | CA391462282 | GABRB3 | c.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) | |
15 | g.26561138G>T | CA391462283 | GABRB3 | c.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) | |
15 | g.26561139G>A | CA489238782 | GABRB3 | c.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=) | |
15 | g.26561139G>C | CA489238783 | GABRB3 | c.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=) | |
15 | g.26561139G>T | CA489238784 | GABRB3 | c.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=) | |
15 | g.26561140G>A | CA268154594 | GABRB3 | c.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 |
15 | g.26561140G>C | CA391462288 | GABRB3 | c.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) | |
15 | g.26561140G= | CA2165747191 | GABRB3 | c.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=) | |
15 | g.26561140G>T | CA391462286 | GABRB3 | c.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) | |
15 | g.26561141T>A | CA391462291 | GABRB3 | c.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) | |
15 | g.26561141T>C | CA391462293 | GABRB3 | c.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) | |
15 | g.26561141T>G | CA391462295 | GABRB3 | c.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) | |
15 | g.26561142G>A | CA7437344 | GABRB3 | c.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 |
15 | g.26561142G>C | CA391462298 | GABRB3 | c.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) | |
15 | g.26561142G= | CA2165747194 | GABRB3 | c.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=) | |
15 | g.26561142G>T | CA391462300 | GABRB3 | c.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) | |
15 | g.26561143T>A | CA391462302 | GABRB3 | c.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) | |
15 | g.26561143T>C | CA391462306 | GABRB3 | c.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 |
15 | g.26561143T>G | CA391462304 | GABRB3 | c.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) | |
15 | g.26561144T>A | CA391462308 | GABRB3 | c.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) | |
15 | g.26561144T>C | CA391462309 | GABRB3 | c.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) | |
15 | g.26561144T>G | CA391462311 | GABRB3 | c.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 |
15 | g.26561145G>A | CA489238785 | GABRB3 | c.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=) | |
15 | g.26561145G>C | CA391462313 | GABRB3 | c.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) | |
15 | g.26561145G>T | CA489238786 | GABRB3 | c.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=) | |
15 | g.26561146A>C | CA391462315 | GABRB3 | c.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) | |
15 | g.26561146A>G | CA391462317 | GABRB3 | c.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 |
15 | g.26561146A>T | CA391462318 | GABRB3 | c.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) | |
15 | g.26561147T>A | CA391462319 | GABRB3 | c.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) | |
15 | g.26561147T>C | CA391462320 | GABRB3 | c.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) | |
15 | g.26561147T>G | CA391462321 | GABRB3 | c.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) | |
15 | g.26561148G>A | CA489238789 | GABRB3 | c.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=) | |
15 | g.26561148G>C | CA489238788 | GABRB3 | c.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 |
15 | g.26561148G= | CA2165747199 | GABRB3 | c.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=) | |
15 | g.26561148G>T | CA489238787 | GABRB3 | c.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=) | |
15 | g.26561149G>A | CA391462322 | GABRB3 | c.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 |
15 | g.26561149G>C | CA391462323 | GABRB3 | c.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) | |
15 | g.26561149G= | CA2165747207 | GABRB3 | c.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=) | |
15 | g.26561149G>T | CA391462324 | GABRB3 | c.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) | |
15 | g.26561150T>A | CA391462327 | GABRB3 | c.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) | |
15 | g.26561150T>C | CA391462325 | GABRB3 | c.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 |
15 | g.26561150T>G | CA391462326 | GABRB3 | c.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) | |
15 | g.26561150T= | CA2165747215 | GABRB3 | c.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=) | |
15 | g.26561151T>A | CA489238790 | GABRB3 | c.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=) | |
15 | g.26561151T>C | CA489238792 | GABRB3 | c.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=) | |
15 | g.26561151T>G | CA489238791 | GABRB3 | c.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=) | |
15 | g.26561152G>A | CA391462328 | GABRB3 | c.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 |
15 | g.26561152G>C | CA391462329 | GABRB3 | c.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) | |
15 | g.26561152G= | CA2165747221 | GABRB3 | c.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=) | |
15 | g.26561152G>T | CA391462330 | GABRB3 | c.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 |
15 | g.26561153T>A | CA391462331 | GABRB3 | c.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) | |
15 | g.26561153T>C | CA391462332 | GABRB3 | c.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) | |
15 | g.26561153T>G | CA391462333 | GABRB3 | c.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) | |
15 | g.26561154C>A | CA391462334 | GABRB3 | c.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) | |
15 | g.26561154C>G | CA391462335 | GABRB3 | c.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) | |
15 | g.26561154C>T | CA391462336 | GABRB3 | c.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) | |
15 | g.26561155A>C | CA391462337 | GABRB3 | c.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) | |
15 | g.26561155A>G | CA391462338 | GABRB3 | c.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) | |
15 | g.26561155A>T | CA391462339 | GABRB3 | c.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) | |
15 | g.26561156T>A | CA391462340 | GABRB3 | c.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) | |
15 | g.26561156T>C | CA391462342 | GABRB3 | c.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 |
15 | g.26561156T>G | CA391462341 | GABRB3 | c.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) | |
15 | g.26561157T>A | CA489238793 | GABRB3 | c.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=) | |
15 | g.26561157T>C | CA489238794 | GABRB3 | c.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 |
15 | g.26561157T>G | CA489238795 | GABRB3 | c.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 |
15 | g.26561157T= | CA2165747225 | GABRB3 | c.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=) | |
15 | g.26561158G>A | CA391462343 | GABRB3 | c.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) | |
15 | g.26561158G>C | CA391462344 | GABRB3 | c.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) | |
15 | g.26561158G>T | CA391462345 | GABRB3 | c.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 |
15 | g.26561159T>A | CA391462346 | GABRB3 | c.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) | |
15 | g.26561159T>C | CA391462347 | GABRB3 | c.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) | |
15 | g.26561159T>G | CA391462348 | GABRB3 | c.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) | |
15 | g.26561160C>A | CA489238796 | GABRB3 | c.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=) | |
15 | g.26561160C>G | CA489238797 | GABRB3 | c.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=) | |
15 | g.26561160C>T | CA489238798 | GABRB3 | c.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=) | |
15 | g.26561162_26561164dup | CA2573150551 | GABRB3 | c.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 |
15 | g.26561161A= | CA2165747231 | GABRB3 | c.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=) | |
15 | g.26561161A>C | CA391462351 | GABRB3 | c.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 |
15 | g.26561161A>G | CA391462349 | GABRB3 | c.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) | |
15 | g.26561161A>T | CA391462350 | GABRB3 | c.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) | |
15 | g.26561162G>A | CA489238799 | GABRB3 | c.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=) | |
15 | g.26561162G>C | CA391462352 | GABRB3 | c.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) | |
15 | g.26561162G>T | CA391462353 | GABRB3 | c.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) | |
15 | g.26561163C>A | CA489238800 | GABRB3 | c.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=) | |
15 | g.26561163C>G | CA489238801 | GABRB3 | c.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=) | |
15 | g.26561163C>T | CA489238802 | GABRB3 | c.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=) | |
15 | g.26561165_26561166del | CA2575651428 | GABRB3 | c.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) | |
15 | g.26561164A>C | CA391462354 | GABRB3 | c.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) | |
15 | g.26561164A>G | CA391462355 | GABRB3 | c.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) | |
15 | g.26561164A>T | CA391462356 | GABRB3 | c.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) | |
15 | g.26561165C>A | CA391462359 | GABRB3 | c.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) | |
15 | g.26561165C= | CA2165747238 | GABRB3 | c.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=) | |
15 | g.26561165C>G | CA391462357 | GABRB3 | c.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) | |
15 | g.26561165C>T | CA391462358 | GABRB3 | c.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 |
15 | g.26561166A>C | CA489238803 | GABRB3 | c.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=) | |
15 | g.26561166A>G | CA489238805 | GABRB3 | c.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=) | |
15 | g.26561166A>T | CA489238804 | GABRB3 | c.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=) | |
15 | g.26561167G>A | CA391462360 | GABRB3 | c.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 |
15 | g.26561167G>C | CA391462361 | GABRB3 | c.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) | |
15 | g.26561167G>T | CA391462362 | GABRB3 | c.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 |
15 | g.26561168T>A | CA391462363 | GABRB3 | c.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) | |
15 | g.26561168T>C | CA391462364 | GABRB3 | c.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 |
15 | g.26561168T>G | CA391462365 | GABRB3 | c.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) | |
15 | g.26561169T>A | CA489238806 | GABRB3 | c.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=) | |
15 | g.26561169T>C | CA489238807 | GABRB3 | c.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=) | |
15 | g.26561169T>G | CA489238808 | GABRB3 | c.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=) | |
15 | g.26561170G>A | CA391462366 | GABRB3 | c.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) | |
15 | g.26561170G>C | CA391462367 | GABRB3 | c.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) | |
15 | g.26561170G>T | CA391462368 | GABRB3 | c.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) | |
15 | g.26561171T>A | CA391462369 | GABRB3 | c.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) | |
15 | g.26561171T>C | CA391462370 | GABRB3 | c.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 |
15 | g.26561171T>G | CA391462371 | GABRB3 | c.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) | |
15 | g.26561171T= | CA2165747245 | GABRB3 | c.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=) | |
15 | g.26561172G>A | CA268154595 | GABRB3 | c.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 |
15 | g.26561172G>C | CA391462372 | GABRB3 | c.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) | |
15 | g.26561172G= | CA2165747251 | GABRB3 | c.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=) | |
15 | g.26561172G>T | CA268154596 | GABRB3 | c.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 |
15 | g.26561173A>C | CA391462373 | GABRB3 | c.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) | |
15 | g.26561173A>G | CA391462375 | GABRB3 | c.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 |
15 | g.26561173A>T | CA391462374 | GABRB3 | c.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) | |
15 | g.26561174T>A | CA16042907 | GABRB3 | c.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 |
15 | g.26561174T>C | CA391462376 | GABRB3 | c.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) | |
15 | g.26561174T>G | CA391462377 | GABRB3 | c.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) | |
15 | g.26561174T= | CA2165747258 | GABRB3 | c.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=) | |
15 | g.26561175C>A | CA7437345 | GABRB3 | c.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 |
15 | g.26561175C= | CA2165747266 | GABRB3 | c.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=) | |
15 | g.26561175C>G | CA489238809 | GABRB3 | c.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 |
15 | g.26561175C>T | CA489238810 | GABRB3 | c.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=) | |
15 | g.26561176C>A | CA391462378 | GABRB3 | c.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) | |
15 | g.26561176C>G | CA391462379 | GABRB3 | c.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) | |
15 | g.26561176C>T | CA391462380 | GABRB3 | c.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) | |
15 | g.26561177C>A | CA391462381 | GABRB3 | c.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) | |
15 | g.26561177C>G | CA391462382 | GABRB3 | c.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) | |
15 | g.26561177C>T | CA391462383 | GABRB3 | c.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 |
15 | g.26561178T>A | CA391462384 | GABRB3 | c.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) | |
15 | g.26561178T>C | CA391462385 | GABRB3 | c.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 |
15 | g.26561178T>G | CA391462386 | GABRB3 | c.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) | |
15 | g.26561180G>A | CA617090536 | GABRB3 | c.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 |
15 | g.26561180G>C | CA2165747269 | GABRB3 | c.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 |
15 | g.26561180G= | CA2165747270 | GABRB3 | c.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=) | |
15 | g.26561181A>G | CA2627356975 | GABRB3 | c.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 |
15 | g.26561181_26561185delinsAAAAG | CA2165747272 | GABRB3 | c.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) | |
15 | g.26561182A>C | CA2627356978 | GABRB3 | c.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 |
15 | g.26561185_26561188del | CA2165747275 | GABRB3 | c.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 |
15 | g.26561185_26561186del | CA2575651429 | GABRB3 | c.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) | |
15 | g.26561185G>C | CA2165747281 | GABRB3 | c.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 |
15 | g.26561185G= | CA2165747278 | GABRB3 | c.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=) | |
15 | g.26561185G>T | CA617090537 | GABRB3 | c.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 |
15 | g.26561186A= | CA2165747284 | GABRB3 | c.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=) | |
15 | g.26561186A>G | CA915946479 | GABRB3 | c.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 |
15 | g.26561188del | CA2627356979 | GABRB3 | c.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 |