Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
15 | g.26580357T>A | CA391463964 | GABRB3 | c.644A>T (p.Glu215Val) n.687A>T c.327A>T c.389A>T (p.Glu130Val) c.545A>T (p.Glu182Val) c.431A>T (p.Glu144Val) c.812A>T (p.Glu271Val) c.*105A>T (n.*105A>T) n.556A>T c.*476A>T (n.*476A>T) n.315A>T c.467A>T (p.Glu156Val) | |
15 | g.26580357T>C | CA391463965 | GABRB3 | c.644A>G (p.Glu215Gly) n.687A>G c.327A>G c.389A>G (p.Glu130Gly) c.545A>G (p.Glu182Gly) c.431A>G (p.Glu144Gly) c.812A>G (p.Glu271Gly) c.*105A>G (n.*105A>G) n.556A>G c.*476A>G (n.*476A>G) n.315A>G c.467A>G (p.Glu156Gly) | |
15 | g.26580357T>G | CA391463966 | GABRB3 | c.644A>C (p.Glu215Ala) n.687A>C c.327A>C c.389A>C (p.Glu130Ala) c.545A>C (p.Glu182Ala) c.431A>C (p.Glu144Ala) c.812A>C (p.Glu271Ala) c.*105A>C (n.*105A>C) n.556A>C c.*476A>C (n.*476A>C) n.315A>C c.467A>C (p.Glu156Ala) | |
15 | g.26580358C>A | CA391463969 | GABRB3 | c.643G>T (p.Glu215Ter) n.686G>T c.326G>T c.388G>T (p.Glu130Ter) c.544G>T (p.Glu182Ter) c.430G>T (p.Glu144Ter) c.811G>T (p.Glu271Ter) c.*104G>T (n.*104G>T) n.555G>T c.*475G>T (n.*475G>T) n.314G>T c.466G>T (p.Glu156Ter) | |
15 | g.26580358C>G | CA391463968 | GABRB3 | c.643G>C (p.Glu215Gln) n.686G>C c.326G>C c.388G>C (p.Glu130Gln) c.544G>C (p.Glu182Gln) c.430G>C (p.Glu144Gln) c.811G>C (p.Glu271Gln) c.*104G>C (n.*104G>C) n.555G>C c.*475G>C (n.*475G>C) n.314G>C c.466G>C (p.Glu156Gln) | |
15 | g.26580358C>T | CA391463967 | GABRB3 | c.643G>A (p.Glu215Lys) n.686G>A c.326G>A c.388G>A (p.Glu130Lys) c.544G>A (p.Glu182Lys) c.430G>A (p.Glu144Lys) c.811G>A (p.Glu271Lys) c.*104G>A (n.*104G>A) n.555G>A c.*475G>A (n.*475G>A) n.314G>A c.466G>A (p.Glu156Lys) | |
15 | g.26580359C>A | CA489071723 | GABRB3 | c.642G>T (p.Val214=) n.685G>T c.325G>T c.387G>T (p.Val129=) c.543G>T (p.Val181=) c.429G>T (p.Val143=) c.810G>T (p.Val270=) c.*103G>T (n.*103G>T) n.554G>T c.*474G>T (n.*474G>T) n.313G>T c.465G>T (p.Val155=) | |
15 | g.26580359C>G | CA489071722 | GABRB3 | c.642G>C (p.Val214=) n.685G>C c.325G>C c.387G>C (p.Val129=) c.543G>C (p.Val181=) c.429G>C (p.Val143=) c.810G>C (p.Val270=) c.*103G>C (n.*103G>C) n.554G>C c.*474G>C (n.*474G>C) n.313G>C c.465G>C (p.Val155=) | |
15 | g.26580359C>T | CA489071721 | GABRB3 | c.642G>A (p.Val214=) n.685G>A c.325G>A c.387G>A (p.Val129=) c.543G>A (p.Val181=) c.429G>A (p.Val143=) c.810G>A (p.Val270=) c.*103G>A (n.*103G>A) n.554G>A c.*474G>A (n.*474G>A) n.313G>A c.465G>A (p.Val155=) | COSMIC COSMIC COSMIC |
15 | g.26580360A>C | CA391463970 | GABRB3 | c.641T>G (p.Val214Gly) n.684T>G c.324T>G c.386T>G (p.Val129Gly) c.542T>G (p.Val181Gly) c.428T>G (p.Val143Gly) c.809T>G (p.Val270Gly) c.*102T>G (n.*102T>G) n.553T>G c.*473T>G (n.*473T>G) n.312T>G c.464T>G (p.Val155Gly) | |
15 | g.26580360A>G | CA391463971 | GABRB3 | c.641T>C (p.Val214Ala) n.684T>C c.324T>C c.386T>C (p.Val129Ala) c.542T>C (p.Val181Ala) c.428T>C (p.Val143Ala) c.809T>C (p.Val270Ala) c.*102T>C (n.*102T>C) n.553T>C c.*473T>C (n.*473T>C) n.312T>C c.464T>C (p.Val155Ala) | |
15 | g.26580360A>T | CA391463972 | GABRB3 | c.641T>A (p.Val214Glu) n.684T>A c.324T>A c.386T>A (p.Val129Glu) c.542T>A (p.Val181Glu) c.428T>A (p.Val143Glu) c.809T>A (p.Val270Glu) c.*102T>A (n.*102T>A) n.553T>A c.*473T>A (n.*473T>A) n.312T>A c.464T>A (p.Val155Glu) | |
15 | g.26580361C>A | CA391463973 | GABRB3 | c.640G>T (p.Val214Leu) n.683G>T c.323G>T c.385G>T (p.Val129Leu) c.541G>T (p.Val181Leu) c.427G>T (p.Val143Leu) c.808G>T (p.Val270Leu) c.*101G>T (n.*101G>T) n.552G>T c.*472G>T (n.*472G>T) n.311G>T c.463G>T (p.Val155Leu) | gnomAD v4 COSMIC COSMIC COSMIC |
15 | g.26580361C= | CA2165760512 | GABRB3 | c.640G= (p.Val214=) n.683G= c.323G= c.385G= (p.Val129=) c.541G= (p.Val181=) c.427G= (p.Val143=) c.808G= (p.Val270=) c.*101G= (n.*101G=) n.552G= c.*472G= (n.*472G=) n.311G= c.463G= (p.Val155=) | |
15 | g.26580361C>G | CA391463974 | GABRB3 | c.640G>C (p.Val214Leu) n.683G>C c.323G>C c.385G>C (p.Val129Leu) c.541G>C (p.Val181Leu) c.427G>C (p.Val143Leu) c.808G>C (p.Val270Leu) c.*101G>C (n.*101G>C) n.552G>C c.*472G>C (n.*472G>C) n.311G>C c.463G>C (p.Val155Leu) | |
15 | g.26580361C>T | CA7437394 | GABRB3 | c.640G>A (p.Val214Met) n.683G>A c.323G>A c.385G>A (p.Val129Met) c.541G>A (p.Val181Met) c.427G>A (p.Val143Met) c.808G>A (p.Val270Met) c.*101G>A (n.*101G>A) n.552G>A c.*472G>A (n.*472G>A) n.311G>A c.463G>A (p.Val155Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.26580362G>A | CA7437395 | GABRB3 | c.639C>T (p.Ile213=) n.682C>T c.322C>T c.384C>T (p.Ile128=) c.540C>T (p.Ile180=) c.426C>T (p.Ile142=) c.807C>T (p.Ile269=) c.*100C>T (n.*100C>T) n.551C>T c.*471C>T (n.*471C>T) n.310C>T c.462C>T (p.Ile154=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
15 | g.26580362G>C | CA391463975 | GABRB3 | c.639C>G (p.Ile213Met) n.682C>G c.322C>G c.384C>G (p.Ile128Met) c.540C>G (p.Ile180Met) c.426C>G (p.Ile142Met) c.807C>G (p.Ile269Met) c.*100C>G (n.*100C>G) n.551C>G c.*471C>G (n.*471C>G) n.310C>G c.462C>G (p.Ile154Met) | |
15 | g.26580362G= | CA2165760513 | GABRB3 | c.639C= (p.Ile213=) n.682C= c.322C= c.384C= (p.Ile128=) c.540C= (p.Ile180=) c.426C= (p.Ile142=) c.807C= (p.Ile269=) c.*100C= (n.*100C=) n.551C= c.*471C= (n.*471C=) n.310C= c.462C= (p.Ile154=) | |
15 | g.26580362G>T | CA489071724 | GABRB3 | c.639C>A (p.Ile213=) n.682C>A c.322C>A c.384C>A (p.Ile128=) c.540C>A (p.Ile180=) c.426C>A (p.Ile142=) c.807C>A (p.Ile269=) c.*100C>A (n.*100C>A) n.551C>A c.*471C>A (n.*471C>A) n.310C>A c.462C>A (p.Ile154=) | |
15 | g.26580363A= | CA2165760514 | GABRB3 | c.638T= (p.Ile213=) n.681T= c.321T= c.383T= (p.Ile128=) c.539T= (p.Ile180=) c.425T= (p.Ile142=) c.806T= (p.Ile269=) c.*99T= (n.*99T=) n.550T= c.*470T= (n.*470T=) n.309T= c.461T= (p.Ile154=) | |
15 | g.26580363A>C | CA391463976 | GABRB3 | c.638T>G (p.Ile213Ser) n.681T>G c.321T>G c.383T>G (p.Ile128Ser) c.539T>G (p.Ile180Ser) c.425T>G (p.Ile142Ser) c.806T>G (p.Ile269Ser) c.*99T>G (n.*99T>G) n.550T>G c.*470T>G (n.*470T>G) n.309T>G c.461T>G (p.Ile154Ser) | |
15 | g.26580363A>G | CA268156809 | GABRB3 | c.638T>C (p.Ile213Thr) n.681T>C c.321T>C c.383T>C (p.Ile128Thr) c.539T>C (p.Ile180Thr) c.425T>C (p.Ile142Thr) c.806T>C (p.Ile269Thr) c.*99T>C (n.*99T>C) n.550T>C c.*470T>C (n.*470T>C) n.309T>C c.461T>C (p.Ile154Thr) | dbSNP gnomAD v4 |
15 | g.26580363A>T | CA391463977 | GABRB3 | c.638T>A (p.Ile213Asn) n.681T>A c.321T>A c.383T>A (p.Ile128Asn) c.539T>A (p.Ile180Asn) c.425T>A (p.Ile142Asn) c.806T>A (p.Ile269Asn) c.*99T>A (n.*99T>A) n.550T>A c.*470T>A (n.*470T>A) n.309T>A c.461T>A (p.Ile154Asn) | |
15 | g.26580364T>A | CA391463978 | GABRB3 | c.637A>T (p.Ile213Phe) n.680A>T c.320A>T c.382A>T (p.Ile128Phe) c.538A>T (p.Ile180Phe) c.424A>T (p.Ile142Phe) c.805A>T (p.Ile269Phe) c.*98A>T (n.*98A>T) n.549A>T c.*469A>T (n.*469A>T) n.308A>T c.460A>T (p.Ile154Phe) | |
15 | g.26580364T>C | CA7437396 | GABRB3 | c.637A>G (p.Ile213Val) n.680A>G c.320A>G c.382A>G (p.Ile128Val) c.538A>G (p.Ile180Val) c.424A>G (p.Ile142Val) c.805A>G (p.Ile269Val) c.*98A>G (n.*98A>G) n.549A>G c.*469A>G (n.*469A>G) n.308A>G c.460A>G (p.Ile154Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.26580364T>G | CA391463979 | GABRB3 | c.637A>C (p.Ile213Leu) n.680A>C c.320A>C c.382A>C (p.Ile128Leu) c.538A>C (p.Ile180Leu) c.424A>C (p.Ile142Leu) c.805A>C (p.Ile269Leu) c.*98A>C (n.*98A>C) n.549A>C c.*469A>C (n.*469A>C) n.308A>C c.460A>C (p.Ile154Leu) | |
15 | g.26580364T= | CA2165760515 | GABRB3 | c.637A= (p.Ile213=) n.680A= c.320A= c.382A= (p.Ile128=) c.538A= (p.Ile180=) c.424A= (p.Ile142=) c.805A= (p.Ile269=) c.*98A= (n.*98A=) n.549A= c.*469A= (n.*469A=) n.308A= c.460A= (p.Ile154=) | |
15 | g.26580365G>A | CA489071725 | GABRB3 | c.636C>T (p.Ser212=) n.679C>T c.319C>T c.381C>T (p.Ser127=) c.537C>T (p.Ser179=) c.423C>T (p.Ser141=) c.804C>T (p.Ser268=) c.*97C>T (n.*97C>T) n.548C>T c.*468C>T (n.*468C>T) n.307C>T c.459C>T (p.Ser153=) | |
15 | g.26580365G>C | CA489071726 | GABRB3 | c.636C>G (p.Ser212=) n.679C>G c.319C>G c.381C>G (p.Ser127=) c.537C>G (p.Ser179=) c.423C>G (p.Ser141=) c.804C>G (p.Ser268=) c.*97C>G (n.*97C>G) n.548C>G c.*468C>G (n.*468C>G) n.307C>G c.459C>G (p.Ser153=) | |
15 | g.26580365G>T | CA489071727 | GABRB3 | c.636C>A (p.Ser212=) n.679C>A c.319C>A c.381C>A (p.Ser127=) c.537C>A (p.Ser179=) c.423C>A (p.Ser141=) c.804C>A (p.Ser268=) c.*97C>A (n.*97C>A) n.548C>A c.*468C>A (n.*468C>A) n.307C>A c.459C>A (p.Ser153=) | gnomAD v4 |
15 | g.26580366G>A | CA391463980 | GABRB3 | c.635C>T (p.Ser212Phe) n.678C>T c.318C>T c.380C>T (p.Ser127Phe) c.536C>T (p.Ser179Phe) c.422C>T (p.Ser141Phe) c.803C>T (p.Ser268Phe) c.*96C>T (n.*96C>T) n.547C>T c.*467C>T (n.*467C>T) n.306C>T c.458C>T (p.Ser153Phe) | COSMIC COSMIC COSMIC |
15 | g.26580366G>C | CA391463982 | GABRB3 | c.635C>G (p.Ser212Cys) n.678C>G c.318C>G c.380C>G (p.Ser127Cys) c.536C>G (p.Ser179Cys) c.422C>G (p.Ser141Cys) c.803C>G (p.Ser268Cys) c.*96C>G (n.*96C>G) n.547C>G c.*467C>G (n.*467C>G) n.306C>G c.458C>G (p.Ser153Cys) | |
15 | g.26580366G>T | CA391463981 | GABRB3 | c.635C>A (p.Ser212Tyr) n.678C>A c.318C>A c.380C>A (p.Ser127Tyr) c.536C>A (p.Ser179Tyr) c.422C>A (p.Ser141Tyr) c.803C>A (p.Ser268Tyr) c.*96C>A (n.*96C>A) n.547C>A c.*467C>A (n.*467C>A) n.306C>A c.458C>A (p.Ser153Tyr) | |
15 | g.26580367A>C | CA391463983 | GABRB3 | c.634T>G (p.Ser212Ala) n.677T>G c.317T>G c.379T>G (p.Ser127Ala) c.535T>G (p.Ser179Ala) c.421T>G (p.Ser141Ala) c.802T>G (p.Ser268Ala) c.*95T>G (n.*95T>G) n.546T>G c.*466T>G (n.*466T>G) n.305T>G c.457T>G (p.Ser153Ala) | |
15 | g.26580367A>G | CA391463984 | GABRB3 | c.634T>C (p.Ser212Pro) n.677T>C c.317T>C c.379T>C (p.Ser127Pro) c.535T>C (p.Ser179Pro) c.421T>C (p.Ser141Pro) c.802T>C (p.Ser268Pro) c.*95T>C (n.*95T>C) n.546T>C c.*466T>C (n.*466T>C) n.305T>C c.457T>C (p.Ser153Pro) | |
15 | g.26580367A>T | CA391463985 | GABRB3 | c.634T>A (p.Ser212Thr) n.677T>A c.317T>A c.379T>A (p.Ser127Thr) c.535T>A (p.Ser179Thr) c.421T>A (p.Ser141Thr) c.802T>A (p.Ser268Thr) c.*95T>A (n.*95T>A) n.546T>A c.*466T>A (n.*466T>A) n.305T>A c.457T>A (p.Ser153Thr) | |
15 | g.26580368G>A | CA489071728 | GABRB3 | c.633C>T (p.Phe211=) n.676C>T c.316C>T c.378C>T (p.Phe126=) c.534C>T (p.Phe178=) c.420C>T (p.Phe140=) c.801C>T (p.Phe267=) c.*94C>T (n.*94C>T) n.545C>T c.*465C>T (n.*465C>T) n.304C>T c.456C>T (p.Phe152=) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.26580368G>C | CA391463986 | GABRB3 | c.633C>G (p.Phe211Leu) n.676C>G c.316C>G c.378C>G (p.Phe126Leu) c.534C>G (p.Phe178Leu) c.420C>G (p.Phe140Leu) c.801C>G (p.Phe267Leu) c.*94C>G (n.*94C>G) n.545C>G c.*465C>G (n.*465C>G) n.304C>G c.456C>G (p.Phe152Leu) | |
15 | g.26580368G= | CA2165760516 | GABRB3 | c.633C= (p.Phe211=) n.676C= c.316C= c.378C= (p.Phe126=) c.534C= (p.Phe178=) c.420C= (p.Phe140=) c.801C= (p.Phe267=) c.*94C= (n.*94C=) n.545C= c.*465C= (n.*465C=) n.304C= c.456C= (p.Phe152=) | |
15 | g.26580368G>T | CA391463987 | GABRB3 | c.633C>A (p.Phe211Leu) n.676C>A c.316C>A c.378C>A (p.Phe126Leu) c.534C>A (p.Phe178Leu) c.420C>A (p.Phe140Leu) c.801C>A (p.Phe267Leu) c.*94C>A (n.*94C>A) n.545C>A c.*465C>A (n.*465C>A) n.304C>A c.456C>A (p.Phe152Leu) | |
15 | g.26580369A>C | CA391463988 | GABRB3 | c.632T>G (p.Phe211Cys) n.675T>G c.315T>G c.377T>G (p.Phe126Cys) c.533T>G (p.Phe178Cys) c.419T>G (p.Phe140Cys) c.800T>G (p.Phe267Cys) c.*93T>G (n.*93T>G) n.544T>G c.*464T>G (n.*464T>G) n.303T>G c.455T>G (p.Phe152Cys) | |
15 | g.26580369A>G | CA391463989 | GABRB3 | c.632T>C (p.Phe211Ser) n.675T>C c.315T>C c.377T>C (p.Phe126Ser) c.533T>C (p.Phe178Ser) c.419T>C (p.Phe140Ser) c.800T>C (p.Phe267Ser) c.*93T>C (n.*93T>C) n.544T>C c.*464T>C (n.*464T>C) n.303T>C c.455T>C (p.Phe152Ser) | |
15 | g.26580369A>T | CA391463990 | GABRB3 | c.632T>A (p.Phe211Tyr) n.675T>A c.315T>A c.377T>A (p.Phe126Tyr) c.533T>A (p.Phe178Tyr) c.419T>A (p.Phe140Tyr) c.800T>A (p.Phe267Tyr) c.*93T>A (n.*93T>A) n.544T>A c.*464T>A (n.*464T>A) n.303T>A c.455T>A (p.Phe152Tyr) | |
15 | g.26580370A>C | CA391463991 | GABRB3 | c.631T>G (p.Phe211Val) n.674T>G c.314T>G c.376T>G (p.Phe126Val) c.532T>G (p.Phe178Val) c.418T>G (p.Phe140Val) c.799T>G (p.Phe267Val) c.*92T>G (n.*92T>G) n.543T>G c.*463T>G (n.*463T>G) n.302T>G c.454T>G (p.Phe152Val) | |
15 | g.26580370A>G | CA391463992 | GABRB3 | c.631T>C (p.Phe211Leu) n.674T>C c.314T>C c.376T>C (p.Phe126Leu) c.532T>C (p.Phe178Leu) c.418T>C (p.Phe140Leu) c.799T>C (p.Phe267Leu) c.*92T>C (n.*92T>C) n.543T>C c.*463T>C (n.*463T>C) n.302T>C c.454T>C (p.Phe152Leu) | |
15 | g.26580370A>T | CA391463993 | GABRB3 | c.631T>A (p.Phe211Ile) n.674T>A c.314T>A c.376T>A (p.Phe126Ile) c.532T>A (p.Phe178Ile) c.418T>A (p.Phe140Ile) c.799T>A (p.Phe267Ile) c.*92T>A (n.*92T>A) n.543T>A c.*463T>A (n.*463T>A) n.302T>A c.454T>A (p.Phe152Ile) | |
15 | g.26580370_26580371delinsCG | CA2580089143 | GABRB3 | c.630_631delinsCG (p.Gln210_Phe211delinsHisVal) n.673_674delinsCG c.313_314delinsCG c.375_376delinsCG (p.Gln125_Phe126delinsHisVal) c.531_532delinsCG (p.Gln177_Phe178delinsHisVal) c.417_418delinsCG (p.Gln139_Phe140delinsHisVal) c.798_799delinsCG (p.Gln266_Phe267delinsHisVal) c.*91_*92delinsCG (n.*91_*92delinsCG) n.542_543delinsCG c.*462_*463delinsCG (n.*462_*463delinsCG) n.301_302delinsCG c.453_454delinsCG (p.Gln151_Phe152delinsHisVal) | ClinVar dbSNP |
15 | g.26580371C>A | CA391463995 | GABRB3 | c.630G>T (p.Gln210His) n.673G>T c.313G>T c.375G>T (p.Gln125His) c.531G>T (p.Gln177His) c.417G>T (p.Gln139His) c.798G>T (p.Gln266His) c.*91G>T (n.*91G>T) n.542G>T c.*462G>T (n.*462G>T) n.301G>T c.453G>T (p.Gln151His) | |
15 | g.26580371C= | CA2165760517 | GABRB3 | c.630G= (p.Gln210=) n.673G= c.313G= c.375G= (p.Gln125=) c.531G= (p.Gln177=) c.417G= (p.Gln139=) c.798G= (p.Gln266=) c.*91G= (n.*91G=) n.542G= c.*462G= (n.*462G=) n.301G= c.453G= (p.Gln151=) | |
15 | g.26580371C>G | CA391463994 | GABRB3 | c.630G>C (p.Gln210His) n.673G>C c.313G>C c.375G>C (p.Gln125His) c.531G>C (p.Gln177His) c.417G>C (p.Gln139His) c.798G>C (p.Gln266His) c.*91G>C (n.*91G>C) n.542G>C c.*462G>C (n.*462G>C) n.301G>C c.453G>C (p.Gln151His) | ClinVar dbSNP |
15 | g.26580371C>T | CA489071729 | GABRB3 | c.630G>A (p.Gln210=) n.673G>A c.313G>A c.375G>A (p.Gln125=) c.531G>A (p.Gln177=) c.417G>A (p.Gln139=) c.798G>A (p.Gln266=) c.*91G>A (n.*91G>A) n.542G>A c.*462G>A (n.*462G>A) n.301G>A c.453G>A (p.Gln151=) | |
15 | g.26580372T>A | CA391463996 | GABRB3 | c.629A>T (p.Gln210Leu) n.672A>T c.312A>T c.374A>T (p.Gln125Leu) c.530A>T (p.Gln177Leu) c.416A>T (p.Gln139Leu) c.797A>T (p.Gln266Leu) c.*90A>T (n.*90A>T) n.541A>T c.*461A>T (n.*461A>T) n.300A>T c.452A>T (p.Gln151Leu) | |
15 | g.26580372T>C | CA391463997 | GABRB3 | c.629A>G (p.Gln210Arg) n.672A>G c.312A>G c.374A>G (p.Gln125Arg) c.530A>G (p.Gln177Arg) c.416A>G (p.Gln139Arg) c.797A>G (p.Gln266Arg) c.*90A>G (n.*90A>G) n.541A>G c.*461A>G (n.*461A>G) n.300A>G c.452A>G (p.Gln151Arg) | |
15 | g.26580372T>G | CA391463998 | GABRB3 | c.629A>C (p.Gln210Pro) n.672A>C c.312A>C c.374A>C (p.Gln125Pro) c.530A>C (p.Gln177Pro) c.416A>C (p.Gln139Pro) c.797A>C (p.Gln266Pro) c.*90A>C (n.*90A>C) n.541A>C c.*461A>C (n.*461A>C) n.300A>C c.452A>C (p.Gln151Pro) | |
15 | g.26580373G>A | CA391463999 | GABRB3 | c.628C>T (p.Gln210Ter) n.671C>T c.311C>T c.373C>T (p.Gln125Ter) c.529C>T (p.Gln177Ter) c.415C>T (p.Gln139Ter) c.796C>T (p.Gln266Ter) c.*89C>T (n.*89C>T) n.540C>T c.*460C>T (n.*460C>T) n.299C>T c.451C>T (p.Gln151Ter) | |
15 | g.26580373G>C | CA391464000 | GABRB3 | c.628C>G (p.Gln210Glu) n.671C>G c.311C>G c.373C>G (p.Gln125Glu) c.529C>G (p.Gln177Glu) c.415C>G (p.Gln139Glu) c.796C>G (p.Gln266Glu) c.*89C>G (n.*89C>G) n.540C>G c.*460C>G (n.*460C>G) n.299C>G c.451C>G (p.Gln151Glu) | |
15 | g.26580373G>T | CA391464001 | GABRB3 | c.628C>A (p.Gln210Lys) n.671C>A c.311C>A c.373C>A (p.Gln125Lys) c.529C>A (p.Gln177Lys) c.415C>A (p.Gln139Lys) c.796C>A (p.Gln266Lys) c.*89C>A (n.*89C>A) n.540C>A c.*460C>A (n.*460C>A) n.299C>A c.451C>A (p.Gln151Lys) | |
15 | g.26580374C>A | CA489071730 | GABRB3 | c.627G>T (p.Pro209=) n.670G>T c.310G>T c.372G>T (p.Pro124=) c.528G>T (p.Pro176=) c.414G>T (p.Pro138=) c.795G>T (p.Pro265=) c.*88G>T (n.*88G>T) n.539G>T c.*459G>T (n.*459G>T) n.298G>T c.450G>T (p.Pro150=) | dbSNP gnomAD v4 COSMIC COSMIC COSMIC |
15 | g.26580374C= | CA2165760518 | GABRB3 | c.627G= (p.Pro209=) n.670G= c.310G= c.372G= (p.Pro124=) c.528G= (p.Pro176=) c.414G= (p.Pro138=) c.795G= (p.Pro265=) c.*88G= (n.*88G=) n.539G= c.*459G= (n.*459G=) n.298G= c.450G= (p.Pro150=) | |
15 | g.26580374C>G | CA489071731 | GABRB3 | c.627G>C (p.Pro209=) n.670G>C c.310G>C c.372G>C (p.Pro124=) c.528G>C (p.Pro176=) c.414G>C (p.Pro138=) c.795G>C (p.Pro265=) c.*88G>C (n.*88G>C) n.539G>C c.*459G>C (n.*459G>C) n.298G>C c.450G>C (p.Pro150=) | |
15 | g.26580374C>T | CA7437397 | GABRB3 | c.627G>A (p.Pro209=) n.670G>A c.310G>A c.372G>A (p.Pro124=) c.528G>A (p.Pro176=) c.414G>A (p.Pro138=) c.795G>A (p.Pro265=) c.*88G>A (n.*88G>A) n.539G>A c.*459G>A (n.*459G>A) n.298G>A c.450G>A (p.Pro150=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.26580375G>A | CA7437398 | GABRB3 | c.626C>T (p.Pro209Leu) n.669C>T c.309C>T c.371C>T (p.Pro124Leu) c.527C>T (p.Pro176Leu) c.413C>T (p.Pro138Leu) c.794C>T (p.Pro265Leu) c.*87C>T (n.*87C>T) n.538C>T c.*458C>T (n.*458C>T) n.297C>T c.449C>T (p.Pro150Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
15 | g.26580375G>C | CA391464002 | GABRB3 | c.626C>G (p.Pro209Arg) n.669C>G c.309C>G c.371C>G (p.Pro124Arg) c.527C>G (p.Pro176Arg) c.413C>G (p.Pro138Arg) c.794C>G (p.Pro265Arg) c.*87C>G (n.*87C>G) n.538C>G c.*458C>G (n.*458C>G) n.297C>G c.449C>G (p.Pro150Arg) | |
15 | g.26580375G= | CA2165760519 | GABRB3 | c.626C= (p.Pro209=) n.669C= c.309C= c.371C= (p.Pro124=) c.527C= (p.Pro176=) c.413C= (p.Pro138=) c.794C= (p.Pro265=) c.*87C= (n.*87C=) n.538C= c.*458C= (n.*458C=) n.297C= c.449C= (p.Pro150=) | |
15 | g.26580375G>T | CA391464003 | GABRB3 | c.626C>A (p.Pro209Gln) n.669C>A c.309C>A c.371C>A (p.Pro124Gln) c.527C>A (p.Pro176Gln) c.413C>A (p.Pro138Gln) c.794C>A (p.Pro265Gln) c.*87C>A (n.*87C>A) n.538C>A c.*458C>A (n.*458C>A) n.297C>A c.449C>A (p.Pro150Gln) | |
15 | g.26580376G>A | CA391464004 | GABRB3 | c.625C>T (p.Pro209Ser) n.668C>T c.308C>T c.370C>T (p.Pro124Ser) c.526C>T (p.Pro176Ser) c.412C>T (p.Pro138Ser) c.793C>T (p.Pro265Ser) c.*86C>T (n.*86C>T) n.537C>T c.*457C>T (n.*457C>T) n.296C>T c.448C>T (p.Pro150Ser) | COSMIC COSMIC COSMIC |
15 | g.26580376G>C | CA391464005 | GABRB3 | c.625C>G (p.Pro209Ala) n.668C>G c.308C>G c.370C>G (p.Pro124Ala) c.526C>G (p.Pro176Ala) c.412C>G (p.Pro138Ala) c.793C>G (p.Pro265Ala) c.*86C>G (n.*86C>G) n.537C>G c.*457C>G (n.*457C>G) n.296C>G c.448C>G (p.Pro150Ala) | |
15 | g.26580376G>T | CA391464006 | GABRB3 | c.625C>A (p.Pro209Thr) n.668C>A c.308C>A c.370C>A (p.Pro124Thr) c.526C>A (p.Pro176Thr) c.412C>A (p.Pro138Thr) c.793C>A (p.Pro265Thr) c.*86C>A (n.*86C>A) n.537C>A c.*457C>A (n.*457C>A) n.296C>A c.448C>A (p.Pro150Thr) | |
15 | g.26580377G>A | CA489071734 | GABRB3 | c.624C>T (p.Leu208=) n.667C>T c.307C>T c.369C>T (p.Leu123=) c.525C>T (p.Leu175=) c.411C>T (p.Leu137=) c.792C>T (p.Leu264=) c.*85C>T (n.*85C>T) n.536C>T c.*456C>T (n.*456C>T) n.295C>T c.447C>T (p.Leu149=) | |
15 | g.26580377G>C | CA489071733 | GABRB3 | c.624C>G (p.Leu208=) n.667C>G c.307C>G c.369C>G (p.Leu123=) c.525C>G (p.Leu175=) c.411C>G (p.Leu137=) c.792C>G (p.Leu264=) c.*85C>G (n.*85C>G) n.536C>G c.*456C>G (n.*456C>G) n.295C>G c.447C>G (p.Leu149=) | gnomAD v4 |
15 | g.26580377G>T | CA489071732 | GABRB3 | c.624C>A (p.Leu208=) n.667C>A c.307C>A c.369C>A (p.Leu123=) c.525C>A (p.Leu175=) c.411C>A (p.Leu137=) c.792C>A (p.Leu264=) c.*85C>A (n.*85C>A) n.536C>A c.*456C>A (n.*456C>A) n.295C>A c.447C>A (p.Leu149=) | |
15 | g.26580378A>C | CA391464007 | GABRB3 | c.623T>G (p.Leu208Arg) n.666T>G c.306T>G c.368T>G (p.Leu123Arg) c.524T>G (p.Leu175Arg) c.410T>G (p.Leu137Arg) c.791T>G (p.Leu264Arg) c.*84T>G (n.*84T>G) n.535T>G c.*455T>G (n.*455T>G) n.294T>G c.446T>G (p.Leu149Arg) | |
15 | g.26580378A>G | CA391464008 | GABRB3 | c.623T>C (p.Leu208Pro) n.666T>C c.306T>C c.368T>C (p.Leu123Pro) c.524T>C (p.Leu175Pro) c.410T>C (p.Leu137Pro) c.791T>C (p.Leu264Pro) c.*84T>C (n.*84T>C) n.535T>C c.*455T>C (n.*455T>C) n.294T>C c.446T>C (p.Leu149Pro) | |
15 | g.26580378A>T | CA391464009 | GABRB3 | c.623T>A (p.Leu208His) n.666T>A c.306T>A c.368T>A (p.Leu123His) c.524T>A (p.Leu175His) c.410T>A (p.Leu137His) c.791T>A (p.Leu264His) c.*84T>A (n.*84T>A) n.535T>A c.*455T>A (n.*455T>A) n.294T>A c.446T>A (p.Leu149His) | |
15 | g.26580379_26580383del | CA2573053974 | GABRB3 | c.619_623del (p.Glu207ProfsTer?) n.662_666del c.302_306del c.364_368del (p.Glu122ProfsTer?) c.520_524del (p.Glu174ProfsTer?) c.406_410del (p.Glu136ProfsTer?) c.787_791del (p.Glu263ProfsTer?) c.*80_*84del (n.*80_*84del) n.531_535del c.*451_*455del (n.*451_*455del) n.290_294del c.442_446del (p.Glu148ProfsTer?) | ClinVar dbSNP |
15 | g.26580379G>A | CA391464010 | GABRB3 | c.622C>T (p.Leu208Phe) n.665C>T c.305C>T c.367C>T (p.Leu123Phe) c.523C>T (p.Leu175Phe) c.409C>T (p.Leu137Phe) c.790C>T (p.Leu264Phe) c.*83C>T (n.*83C>T) n.534C>T c.*454C>T (n.*454C>T) n.293C>T c.445C>T (p.Leu149Phe) | dbSNP gnomAD v4 COSMIC COSMIC COSMIC |
15 | g.26580379G>C | CA391464012 | GABRB3 | c.622C>G (p.Leu208Val) n.665C>G c.305C>G c.367C>G (p.Leu123Val) c.523C>G (p.Leu175Val) c.409C>G (p.Leu137Val) c.790C>G (p.Leu264Val) c.*83C>G (n.*83C>G) n.534C>G c.*454C>G (n.*454C>G) n.293C>G c.445C>G (p.Leu149Val) | |
15 | g.26580379G= | CA2165760520 | GABRB3 | c.622C= (p.Leu208=) n.665C= c.305C= c.367C= (p.Leu123=) c.523C= (p.Leu175=) c.409C= (p.Leu137=) c.790C= (p.Leu264=) c.*83C= (n.*83C=) n.534C= c.*454C= (n.*454C=) n.293C= c.445C= (p.Leu149=) | |
15 | g.26580379G>T | CA391464011 | GABRB3 | c.622C>A (p.Leu208Ile) n.665C>A c.305C>A c.367C>A (p.Leu123Ile) c.523C>A (p.Leu175Ile) c.409C>A (p.Leu137Ile) c.790C>A (p.Leu264Ile) c.*83C>A (n.*83C>A) n.534C>A c.*454C>A (n.*454C>A) n.293C>A c.445C>A (p.Leu149Ile) | |
15 | g.26580380C>A | CA391464013 | GABRB3 | c.621G>T (p.Glu207Asp) n.664G>T c.304G>T c.366G>T (p.Glu122Asp) c.522G>T (p.Glu174Asp) c.408G>T (p.Glu136Asp) c.789G>T (p.Glu263Asp) c.*82G>T (n.*82G>T) n.533G>T c.*453G>T (n.*453G>T) n.292G>T c.444G>T (p.Glu148Asp) | COSMIC COSMIC COSMIC |
15 | g.26580380C= | CA2165760521 | GABRB3 | c.621G= (p.Glu207=) n.664G= c.304G= c.366G= (p.Glu122=) c.522G= (p.Glu174=) c.408G= (p.Glu136=) c.789G= (p.Glu263=) c.*82G= (n.*82G=) n.533G= c.*453G= (n.*453G=) n.292G= c.444G= (p.Glu148=) | |
15 | g.26580380C>G | CA391464014 | GABRB3 | c.621G>C (p.Glu207Asp) n.664G>C c.304G>C c.366G>C (p.Glu122Asp) c.522G>C (p.Glu174Asp) c.408G>C (p.Glu136Asp) c.789G>C (p.Glu263Asp) c.*82G>C (n.*82G>C) n.533G>C c.*453G>C (n.*453G>C) n.292G>C c.444G>C (p.Glu148Asp) | |
15 | g.26580380C>T | CA489071735 | GABRB3 | c.621G>A (p.Glu207=) n.664G>A c.304G>A c.366G>A (p.Glu122=) c.522G>A (p.Glu174=) c.408G>A (p.Glu136=) c.789G>A (p.Glu263=) c.*82G>A (n.*82G>A) n.533G>A c.*453G>A (n.*453G>A) n.292G>A c.444G>A (p.Glu148=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
15 | g.26580381T>A | CA391464015 | GABRB3 | c.620A>T (p.Glu207Val) n.663A>T c.303A>T c.365A>T (p.Glu122Val) c.521A>T (p.Glu174Val) c.407A>T (p.Glu136Val) c.788A>T (p.Glu263Val) c.*81A>T (n.*81A>T) n.532A>T c.*452A>T (n.*452A>T) n.291A>T c.443A>T (p.Glu148Val) | |
15 | g.26580381T>C | CA391464016 | GABRB3 | c.620A>G (p.Glu207Gly) n.663A>G c.303A>G c.365A>G (p.Glu122Gly) c.521A>G (p.Glu174Gly) c.407A>G (p.Glu136Gly) c.788A>G (p.Glu263Gly) c.*81A>G (n.*81A>G) n.532A>G c.*452A>G (n.*452A>G) n.291A>G c.443A>G (p.Glu148Gly) | |
15 | g.26580381T>G | CA7437399 | GABRB3 | c.620A>C (p.Glu207Ala) n.663A>C c.303A>C c.365A>C (p.Glu122Ala) c.521A>C (p.Glu174Ala) c.407A>C (p.Glu136Ala) c.788A>C (p.Glu263Ala) c.*81A>C (n.*81A>C) n.532A>C c.*452A>C (n.*452A>C) n.291A>C c.443A>C (p.Glu148Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.26580381T= | CA2165760522 | GABRB3 | c.620A= (p.Glu207=) n.663A= c.303A= c.365A= (p.Glu122=) c.521A= (p.Glu174=) c.407A= (p.Glu136=) c.788A= (p.Glu263=) c.*81A= (n.*81A=) n.532A= c.*452A= (n.*452A=) n.291A= c.443A= (p.Glu148=) | |
15 | g.26580382C>A | CA391464017 | GABRB3 | c.619G>T (p.Glu207Ter) n.662G>T c.302G>T c.364G>T (p.Glu122Ter) c.520G>T (p.Glu174Ter) c.406G>T (p.Glu136Ter) c.787G>T (p.Glu263Ter) c.*80G>T (n.*80G>T) n.531G>T c.*451G>T (n.*451G>T) n.290G>T c.442G>T (p.Glu148Ter) | |
15 | g.26580382C>G | CA391464018 | GABRB3 | c.619G>C (p.Glu207Gln) n.662G>C c.302G>C c.364G>C (p.Glu122Gln) c.520G>C (p.Glu174Gln) c.406G>C (p.Glu136Gln) c.787G>C (p.Glu263Gln) c.*80G>C (n.*80G>C) n.531G>C c.*451G>C (n.*451G>C) n.290G>C c.442G>C (p.Glu148Gln) | |
15 | g.26580382C>T | CA391464019 | GABRB3 | c.619G>A (p.Glu207Lys) n.662G>A c.302G>A c.364G>A (p.Glu122Lys) c.520G>A (p.Glu174Lys) c.406G>A (p.Glu136Lys) c.787G>A (p.Glu263Lys) c.*80G>A (n.*80G>A) n.531G>A c.*451G>A (n.*451G>A) n.290G>A c.442G>A (p.Glu148Lys) | gnomAD v4 |
15 | g.26580383A>C | CA391464020 | GABRB3 | c.618T>G (p.Ile206Met) n.661T>G c.301T>G c.363T>G (p.Ile121Met) c.519T>G (p.Ile173Met) c.405T>G (p.Ile135Met) c.786T>G (p.Ile262Met) c.*79T>G (n.*79T>G) n.530T>G c.*450T>G (n.*450T>G) n.289T>G c.441T>G (p.Ile147Met) | |
15 | g.26580383A>G | CA489071736 | GABRB3 | c.618T>C (p.Ile206=) n.661T>C c.301T>C c.363T>C (p.Ile121=) c.519T>C (p.Ile173=) c.405T>C (p.Ile135=) c.786T>C (p.Ile262=) c.*79T>C (n.*79T>C) n.530T>C c.*450T>C (n.*450T>C) n.289T>C c.441T>C (p.Ile147=) | dbSNP gnomAD v4 |
15 | g.26580383A>T | CA489071737 | GABRB3 | c.618T>A (p.Ile206=) n.661T>A c.301T>A c.363T>A (p.Ile121=) c.519T>A (p.Ile173=) c.405T>A (p.Ile135=) c.786T>A (p.Ile262=) c.*79T>A (n.*79T>A) n.530T>A c.*450T>A (n.*450T>A) n.289T>A c.441T>A (p.Ile147=) | |
15 | g.26580384A>C | CA391464021 | GABRB3 | c.617T>G (p.Ile206Ser) n.660T>G c.300T>G c.362T>G (p.Ile121Ser) c.518T>G (p.Ile173Ser) c.404T>G (p.Ile135Ser) c.785T>G (p.Ile262Ser) c.*78T>G (n.*78T>G) n.529T>G c.*449T>G (n.*449T>G) n.288T>G c.440T>G (p.Ile147Ser) | |
15 | g.26580384A>G | CA391464022 | GABRB3 | c.617T>C (p.Ile206Thr) n.660T>C c.300T>C c.362T>C (p.Ile121Thr) c.518T>C (p.Ile173Thr) c.404T>C (p.Ile135Thr) c.785T>C (p.Ile262Thr) c.*78T>C (n.*78T>C) n.529T>C c.*449T>C (n.*449T>C) n.288T>C c.440T>C (p.Ile147Thr) | |
15 | g.26580384A>T | CA391464026 | GABRB3 | c.617T>A (p.Ile206Asn) n.660T>A c.300T>A c.362T>A (p.Ile121Asn) c.518T>A (p.Ile173Asn) c.404T>A (p.Ile135Asn) c.785T>A (p.Ile262Asn) c.*78T>A (n.*78T>A) n.529T>A c.*449T>A (n.*449T>A) n.288T>A c.440T>A (p.Ile147Asn) | |
15 | g.26580385T>A | CA391464027 | GABRB3 | c.616A>T (p.Ile206Phe) n.659A>T c.299A>T c.361A>T (p.Ile121Phe) c.517A>T (p.Ile173Phe) c.403A>T (p.Ile135Phe) c.784A>T (p.Ile262Phe) c.*77A>T (n.*77A>T) n.528A>T c.*448A>T (n.*448A>T) n.287A>T c.439A>T (p.Ile147Phe) | |
15 | g.26580385T>C | CA391464029 | GABRB3 | c.616A>G (p.Ile206Val) n.659A>G c.299A>G c.361A>G (p.Ile121Val) c.517A>G (p.Ile173Val) c.403A>G (p.Ile135Val) c.784A>G (p.Ile262Val) c.*77A>G (n.*77A>G) n.528A>G c.*448A>G (n.*448A>G) n.287A>G c.439A>G (p.Ile147Val) | |
15 | g.26580385T>G | CA391464028 | GABRB3 | c.616A>C (p.Ile206Leu) n.659A>C c.299A>C c.361A>C (p.Ile121Leu) c.517A>C (p.Ile173Leu) c.403A>C (p.Ile135Leu) c.784A>C (p.Ile262Leu) c.*77A>C (n.*77A>C) n.528A>C c.*448A>C (n.*448A>C) n.287A>C c.439A>C (p.Ile147Leu) | |
15 | g.26580386C>A | CA391464031 | GABRB3 | c.615G>T (p.Arg205Ser) n.658G>T c.298G>T c.360G>T (p.Arg120Ser) c.516G>T (p.Arg172Ser) c.402G>T (p.Arg134Ser) c.783G>T (p.Arg261Ser) c.*76G>T (n.*76G>T) n.527G>T c.*447G>T (n.*447G>T) n.286G>T c.438G>T (p.Arg146Ser) | gnomAD v4 |
15 | g.26580386C>G | CA391464032 | GABRB3 | c.615G>C (p.Arg205Ser) n.658G>C c.298G>C c.360G>C (p.Arg120Ser) c.516G>C (p.Arg172Ser) c.402G>C (p.Arg134Ser) c.783G>C (p.Arg261Ser) c.*76G>C (n.*76G>C) n.527G>C c.*447G>C (n.*447G>C) n.286G>C c.438G>C (p.Arg146Ser) | |
15 | g.26580386C>T | CA489071738 | GABRB3 | c.615G>A (p.Arg205=) n.658G>A c.298G>A c.360G>A (p.Arg120=) c.516G>A (p.Arg172=) c.402G>A (p.Arg134=) c.783G>A (p.Arg261=) c.*76G>A (n.*76G>A) n.527G>A c.*447G>A (n.*447G>A) n.286G>A c.438G>A (p.Arg146=) | COSMIC COSMIC COSMIC |
15 | g.26580387C>A | CA391464033 | GABRB3 | c.614G>T (p.Arg205Met) n.657G>T c.297G>T c.359G>T (p.Arg120Met) c.515G>T (p.Arg172Met) c.401G>T (p.Arg134Met) c.782G>T (p.Arg261Met) c.*75G>T (n.*75G>T) n.526G>T c.*446G>T (n.*446G>T) n.285G>T c.437G>T (p.Arg146Met) | |
15 | g.26580387C>G | CA391464035 | GABRB3 | c.614G>C (p.Arg205Thr) n.657G>C c.297G>C c.359G>C (p.Arg120Thr) c.515G>C (p.Arg172Thr) c.401G>C (p.Arg134Thr) c.782G>C (p.Arg261Thr) c.*75G>C (n.*75G>C) n.526G>C c.*446G>C (n.*446G>C) n.285G>C c.437G>C (p.Arg146Thr) | |
15 | g.26580387C>T | CA391464038 | GABRB3 | c.614G>A (p.Arg205Lys) n.657G>A c.297G>A c.359G>A (p.Arg120Lys) c.515G>A (p.Arg172Lys) c.401G>A (p.Arg134Lys) c.782G>A (p.Arg261Lys) c.*75G>A (n.*75G>A) n.526G>A c.*446G>A (n.*446G>A) n.285G>A c.437G>A (p.Arg146Lys) | gnomAD v4 |
15 | g.26580388T>A | CA391464040 | GABRB3 | c.613A>T (p.Arg205Trp) n.656A>T c.296A>T c.358A>T (p.Arg120Trp) c.514A>T (p.Arg172Trp) c.400A>T (p.Arg134Trp) c.781A>T (p.Arg261Trp) c.*74A>T (n.*74A>T) n.525A>T c.*445A>T (n.*445A>T) n.284A>T c.436A>T (p.Arg146Trp) | |
15 | g.26580388T>C | CA391464041 | GABRB3 | c.613A>G (p.Arg205Gly) n.656A>G c.296A>G c.358A>G (p.Arg120Gly) c.514A>G (p.Arg172Gly) c.400A>G (p.Arg134Gly) c.781A>G (p.Arg261Gly) c.*74A>G (n.*74A>G) n.525A>G c.*445A>G (n.*445A>G) n.284A>G c.436A>G (p.Arg146Gly) | |
15 | g.26580388T>G | CA489071739 | GABRB3 | c.613A>C (p.Arg205=) n.656A>C c.296A>C c.358A>C (p.Arg120=) c.514A>C (p.Arg172=) c.400A>C (p.Arg134=) c.781A>C (p.Arg261=) c.*74A>C (n.*74A>C) n.525A>C c.*445A>C (n.*445A>C) n.284A>C c.436A>C (p.Arg146=) | |
15 | g.26580389T>A | CA391464042 | GABRB3 | c.612A>T (p.Glu204Asp) n.655A>T c.295A>T c.357A>T (p.Glu119Asp) c.513A>T (p.Glu171Asp) c.399A>T (p.Glu133Asp) c.780A>T (p.Glu260Asp) c.*73A>T (n.*73A>T) n.524A>T c.*444A>T (n.*444A>T) n.283A>T c.435A>T (p.Glu145Asp) | |
15 | g.26580389T>C | CA489071740 | GABRB3 | c.612A>G (p.Glu204=) n.655A>G c.295A>G c.357A>G (p.Glu119=) c.513A>G (p.Glu171=) c.399A>G (p.Glu133=) c.780A>G (p.Glu260=) c.*73A>G (n.*73A>G) n.524A>G c.*444A>G (n.*444A>G) n.283A>G c.435A>G (p.Glu145=) | |
15 | g.26580389T>G | CA391464043 | GABRB3 | c.612A>C (p.Glu204Asp) n.655A>C c.295A>C c.357A>C (p.Glu119Asp) c.513A>C (p.Glu171Asp) c.399A>C (p.Glu133Asp) c.780A>C (p.Glu260Asp) c.*73A>C (n.*73A>C) n.524A>C c.*444A>C (n.*444A>C) n.283A>C c.435A>C (p.Glu145Asp) | |
15 | g.26580390T>A | CA391464044 | GABRB3 | c.611A>T (p.Glu204Val) n.654A>T c.294A>T c.356A>T (p.Glu119Val) c.512A>T (p.Glu171Val) c.398A>T (p.Glu133Val) c.779A>T (p.Glu260Val) c.*72A>T (n.*72A>T) n.523A>T c.*443A>T (n.*443A>T) n.282A>T c.434A>T (p.Glu145Val) | |
15 | g.26580390T>C | CA391464045 | GABRB3 | c.611A>G (p.Glu204Gly) n.654A>G c.294A>G c.356A>G (p.Glu119Gly) c.512A>G (p.Glu171Gly) c.398A>G (p.Glu133Gly) c.779A>G (p.Glu260Gly) c.*72A>G (n.*72A>G) n.523A>G c.*443A>G (n.*443A>G) n.282A>G c.434A>G (p.Glu145Gly) | |
15 | g.26580390T>G | CA391464046 | GABRB3 | c.611A>C (p.Glu204Ala) n.654A>C c.294A>C c.356A>C (p.Glu119Ala) c.512A>C (p.Glu171Ala) c.398A>C (p.Glu133Ala) c.779A>C (p.Glu260Ala) c.*72A>C (n.*72A>C) n.523A>C c.*443A>C (n.*443A>C) n.282A>C c.434A>C (p.Glu145Ala) | |
15 | g.26580391C>A | CA391464053 | GABRB3 | c.610G>T (p.Glu204Ter) n.653G>T c.293G>T c.355G>T (p.Glu119Ter) c.511G>T (p.Glu171Ter) c.397G>T (p.Glu133Ter) c.778G>T (p.Glu260Ter) c.*71G>T (n.*71G>T) n.522G>T c.*442G>T (n.*442G>T) n.281G>T c.433G>T (p.Glu145Ter) | |
15 | g.26580391C>G | CA391464052 | GABRB3 | c.610G>C (p.Glu204Gln) n.653G>C c.293G>C c.355G>C (p.Glu119Gln) c.511G>C (p.Glu171Gln) c.397G>C (p.Glu133Gln) c.778G>C (p.Glu260Gln) c.*71G>C (n.*71G>C) n.522G>C c.*442G>C (n.*442G>C) n.281G>C c.433G>C (p.Glu145Gln) | |
15 | g.26580391C>T | CA391464048 | GABRB3 | c.610G>A (p.Glu204Lys) n.653G>A c.293G>A c.355G>A (p.Glu119Lys) c.511G>A (p.Glu171Lys) c.397G>A (p.Glu133Lys) c.778G>A (p.Glu260Lys) c.*71G>A (n.*71G>A) n.522G>A c.*442G>A (n.*442G>A) n.281G>A c.433G>A (p.Glu145Lys) | |
15 | g.26580392C>A | CA489071741 | GABRB3 | c.609G>T (p.Val203=) n.652G>T c.292G>T c.354G>T (p.Val118=) c.510G>T (p.Val170=) c.396G>T (p.Val132=) c.777G>T (p.Val259=) c.*70G>T (n.*70G>T) n.521G>T c.*441G>T (n.*441G>T) n.280G>T c.432G>T (p.Val144=) | |
15 | g.26580392C= | CA2165760523 | GABRB3 | c.609G= (p.Val203=) n.652G= c.292G= c.354G= (p.Val118=) c.510G= (p.Val170=) c.396G= (p.Val132=) c.777G= (p.Val259=) c.*70G= (n.*70G=) n.521G= c.*441G= (n.*441G=) n.280G= c.432G= (p.Val144=) | |
15 | g.26580392C>G | CA489071742 | GABRB3 | c.609G>C (p.Val203=) n.652G>C c.292G>C c.354G>C (p.Val118=) c.510G>C (p.Val170=) c.396G>C (p.Val132=) c.777G>C (p.Val259=) c.*70G>C (n.*70G>C) n.521G>C c.*441G>C (n.*441G>C) n.280G>C c.432G>C (p.Val144=) | gnomAD v4 |
15 | g.26580392C>T | CA489071743 | GABRB3 | c.609G>A (p.Val203=) n.652G>A c.292G>A c.354G>A (p.Val118=) c.510G>A (p.Val170=) c.396G>A (p.Val132=) c.777G>A (p.Val259=) c.*70G>A (n.*70G>A) n.521G>A c.*441G>A (n.*441G>A) n.280G>A c.432G>A (p.Val144=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.26580393A= | CA2165760524 | GABRB3 | c.608T= (p.Val203=) n.651T= c.291T= c.353T= (p.Val118=) c.509T= (p.Val170=) c.395T= (p.Val132=) c.776T= (p.Val259=) c.*69T= (n.*69T=) n.520T= c.*440T= (n.*440T=) n.279T= c.431T= (p.Val144=) | |
15 | g.26580393A>C | CA391464054 | GABRB3 | c.608T>G (p.Val203Gly) n.651T>G c.291T>G c.353T>G (p.Val118Gly) c.509T>G (p.Val170Gly) c.395T>G (p.Val132Gly) c.776T>G (p.Val259Gly) c.*69T>G (n.*69T>G) n.520T>G c.*440T>G (n.*440T>G) n.279T>G c.431T>G (p.Val144Gly) | dbSNP |
15 | g.26580393A>G | CA391464055 | GABRB3 | c.608T>C (p.Val203Ala) n.651T>C c.291T>C c.353T>C (p.Val118Ala) c.509T>C (p.Val170Ala) c.395T>C (p.Val132Ala) c.776T>C (p.Val259Ala) c.*69T>C (n.*69T>C) n.520T>C c.*440T>C (n.*440T>C) n.279T>C c.431T>C (p.Val144Ala) | |
15 | g.26580393A>T | CA391464057 | GABRB3 | c.608T>A (p.Val203Glu) n.651T>A c.291T>A c.353T>A (p.Val118Glu) c.509T>A (p.Val170Glu) c.395T>A (p.Val132Glu) c.776T>A (p.Val259Glu) c.*69T>A (n.*69T>A) n.520T>A c.*440T>A (n.*440T>A) n.279T>A c.431T>A (p.Val144Glu) | |
15 | g.26580394C>A | CA391464060 | GABRB3 | c.607G>T (p.Val203Leu) n.650G>T c.290G>T c.352G>T (p.Val118Leu) c.508G>T (p.Val170Leu) c.394G>T (p.Val132Leu) c.775G>T (p.Val259Leu) c.*68G>T (n.*68G>T) n.519G>T c.*439G>T (n.*439G>T) n.278G>T c.430G>T (p.Val144Leu) | |
15 | g.26580394C>G | CA391464064 | GABRB3 | c.607G>C (p.Val203Leu) n.650G>C c.290G>C c.352G>C (p.Val118Leu) c.508G>C (p.Val170Leu) c.394G>C (p.Val132Leu) c.775G>C (p.Val259Leu) c.*68G>C (n.*68G>C) n.519G>C c.*439G>C (n.*439G>C) n.278G>C c.430G>C (p.Val144Leu) | |
15 | g.26580394C>T | CA391464066 | GABRB3 | c.607G>A (p.Val203Met) n.650G>A c.290G>A c.352G>A (p.Val118Met) c.508G>A (p.Val170Met) c.394G>A (p.Val132Met) c.775G>A (p.Val259Met) c.*68G>A (n.*68G>A) n.519G>A c.*439G>A (n.*439G>A) n.278G>A c.430G>A (p.Val144Met) | |
15 | g.26580395T>A | CA489071746 | GABRB3 | c.606A>T (p.Gly202=) n.649A>T c.289A>T c.351A>T (p.Gly117=) c.507A>T (p.Gly169=) c.393A>T (p.Gly131=) c.774A>T (p.Gly258=) c.*67A>T (n.*67A>T) n.518A>T c.*438A>T (n.*438A>T) n.277A>T c.429A>T (p.Gly143=) | |
15 | g.26580395T>C | CA489071744 | GABRB3 | c.606A>G (p.Gly202=) n.649A>G c.289A>G c.351A>G (p.Gly117=) c.507A>G (p.Gly169=) c.393A>G (p.Gly131=) c.774A>G (p.Gly258=) c.*67A>G (n.*67A>G) n.518A>G c.*438A>G (n.*438A>G) n.277A>G c.429A>G (p.Gly143=) | |
15 | g.26580395T>G | CA489071745 | GABRB3 | c.606A>C (p.Gly202=) n.649A>C c.289A>C c.351A>C (p.Gly117=) c.507A>C (p.Gly169=) c.393A>C (p.Gly131=) c.774A>C (p.Gly258=) c.*67A>C (n.*67A>C) n.518A>C c.*438A>C (n.*438A>C) n.277A>C c.429A>C (p.Gly143=) | |
15 | g.26580396C>A | CA391464068 | GABRB3 | c.605G>T (p.Gly202Val) n.648G>T c.288G>T c.350G>T (p.Gly117Val) c.506G>T (p.Gly169Val) c.392G>T (p.Gly131Val) c.773G>T (p.Gly258Val) c.*66G>T (n.*66G>T) n.517G>T c.*437G>T (n.*437G>T) n.276G>T c.428G>T (p.Gly143Val) | |
15 | g.26580396C>G | CA391464070 | GABRB3 | c.605G>C (p.Gly202Ala) n.648G>C c.288G>C c.350G>C (p.Gly117Ala) c.506G>C (p.Gly169Ala) c.392G>C (p.Gly131Ala) c.773G>C (p.Gly258Ala) c.*66G>C (n.*66G>C) n.517G>C c.*437G>C (n.*437G>C) n.276G>C c.428G>C (p.Gly143Ala) | |
15 | g.26580396C>T | CA391464071 | GABRB3 | c.605G>A (p.Gly202Glu) n.648G>A c.288G>A c.350G>A (p.Gly117Glu) c.506G>A (p.Gly169Glu) c.392G>A (p.Gly131Glu) c.773G>A (p.Gly258Glu) c.*66G>A (n.*66G>A) n.517G>A c.*437G>A (n.*437G>A) n.276G>A c.428G>A (p.Gly143Glu) | |
15 | g.26580397C>A | CA391464073 | GABRB3 | c.604G>T (p.Gly202Ter) n.647G>T c.287G>T c.349G>T (p.Gly117Ter) c.505G>T (p.Gly169Ter) c.391G>T (p.Gly131Ter) c.772G>T (p.Gly258Ter) c.*65G>T (n.*65G>T) n.516G>T c.*436G>T (n.*436G>T) n.275G>T c.427G>T (p.Gly143Ter) | |
15 | g.26580397C= | CA2165760525 | GABRB3 | c.604G= (p.Gly202=) n.647G= c.287G= c.349G= (p.Gly117=) c.505G= (p.Gly169=) c.391G= (p.Gly131=) c.772G= (p.Gly258=) c.*65G= (n.*65G=) n.516G= c.*436G= (n.*436G=) n.275G= c.427G= (p.Gly143=) | |
15 | g.26580397C>G | CA391464074 | GABRB3 | c.604G>C (p.Gly202Arg) n.647G>C c.287G>C c.349G>C (p.Gly117Arg) c.505G>C (p.Gly169Arg) c.391G>C (p.Gly131Arg) c.772G>C (p.Gly258Arg) c.*65G>C (n.*65G>C) n.516G>C c.*436G>C (n.*436G>C) n.275G>C c.427G>C (p.Gly143Arg) | |
15 | g.26580397C>T | CA7437400 | GABRB3 | c.604G>A (p.Gly202Arg) n.647G>A c.287G>A c.349G>A (p.Gly117Arg) c.505G>A (p.Gly169Arg) c.391G>A (p.Gly131Arg) c.772G>A (p.Gly258Arg) c.*65G>A (n.*65G>A) n.516G>A c.*436G>A (n.*436G>A) n.275G>A c.427G>A (p.Gly143Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.26580398G>A | CA7437401 | GABRB3 | c.603C>T (p.Thr201=) n.646C>T c.286C>T c.348C>T (p.Thr116=) c.504C>T (p.Thr168=) c.390C>T (p.Thr130=) c.771C>T (p.Thr257=) c.*64C>T (n.*64C>T) n.515C>T c.*435C>T (n.*435C>T) n.274C>T c.426C>T (p.Thr142=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.26580398G>C | CA489071747 | GABRB3 | c.603C>G (p.Thr201=) n.646C>G c.286C>G c.348C>G (p.Thr116=) c.504C>G (p.Thr168=) c.390C>G (p.Thr130=) c.771C>G (p.Thr257=) c.*64C>G (n.*64C>G) n.515C>G c.*435C>G (n.*435C>G) n.274C>G c.426C>G (p.Thr142=) | |
15 | g.26580398G= | CA2165760526 | GABRB3 | c.603C= (p.Thr201=) n.646C= c.286C= c.348C= (p.Thr116=) c.504C= (p.Thr168=) c.390C= (p.Thr130=) c.771C= (p.Thr257=) c.*64C= (n.*64C=) n.515C= c.*435C= (n.*435C=) n.274C= c.426C= (p.Thr142=) | |
15 | g.26580398G>T | CA489071748 | GABRB3 | c.603C>A (p.Thr201=) n.646C>A c.286C>A c.348C>A (p.Thr116=) c.504C>A (p.Thr168=) c.390C>A (p.Thr130=) c.771C>A (p.Thr257=) c.*64C>A (n.*64C>A) n.515C>A c.*435C>A (n.*435C>A) n.274C>A c.426C>A (p.Thr142=) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.26580399G>A | CA391464076 | GABRB3 | c.602C>T (p.Thr201Ile) n.645C>T c.285C>T c.347C>T (p.Thr116Ile) c.503C>T (p.Thr168Ile) c.389C>T (p.Thr130Ile) c.770C>T (p.Thr257Ile) c.*63C>T (n.*63C>T) n.514C>T c.*434C>T (n.*434C>T) n.273C>T c.425C>T (p.Thr142Ile) | |
15 | g.26580399G>C | CA391464077 | GABRB3 | c.602C>G (p.Thr201Ser) n.645C>G c.285C>G c.347C>G (p.Thr116Ser) c.503C>G (p.Thr168Ser) c.389C>G (p.Thr130Ser) c.770C>G (p.Thr257Ser) c.*63C>G (n.*63C>G) n.514C>G c.*434C>G (n.*434C>G) n.273C>G c.425C>G (p.Thr142Ser) | dbSNP |
15 | g.26580399G= | CA2165760527 | GABRB3 | c.602C= (p.Thr201=) n.645C= c.285C= c.347C= (p.Thr116=) c.503C= (p.Thr168=) c.389C= (p.Thr130=) c.770C= (p.Thr257=) c.*63C= (n.*63C=) n.514C= c.*434C= (n.*434C=) n.273C= c.425C= (p.Thr142=) | |
15 | g.26580399G>T | CA391464075 | GABRB3 | c.602C>A (p.Thr201Asn) n.645C>A c.285C>A c.347C>A (p.Thr116Asn) c.503C>A (p.Thr168Asn) c.389C>A (p.Thr130Asn) c.770C>A (p.Thr257Asn) c.*63C>A (n.*63C>A) n.514C>A c.*434C>A (n.*434C>A) n.273C>A c.425C>A (p.Thr142Asn) | dbSNP gnomAD v4 |
15 | g.26580400T>A | CA391464079 | GABRB3 | c.601A>T (p.Thr201Ser) n.644A>T c.284A>T c.346A>T (p.Thr116Ser) c.502A>T (p.Thr168Ser) c.388A>T (p.Thr130Ser) c.769A>T (p.Thr257Ser) c.*62A>T (n.*62A>T) n.513A>T c.*433A>T (n.*433A>T) n.272A>T c.424A>T (p.Thr142Ser) | |
15 | g.26580400T>C | CA391464078 | GABRB3 | c.601A>G (p.Thr201Ala) n.644A>G c.284A>G c.346A>G (p.Thr116Ala) c.502A>G (p.Thr168Ala) c.388A>G (p.Thr130Ala) c.769A>G (p.Thr257Ala) c.*62A>G (n.*62A>G) n.513A>G c.*433A>G (n.*433A>G) n.272A>G c.424A>G (p.Thr142Ala) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.26580400T>G | CA391464080 | GABRB3 | c.601A>C (p.Thr201Pro) n.644A>C c.284A>C c.346A>C (p.Thr116Pro) c.502A>C (p.Thr168Pro) c.388A>C (p.Thr130Pro) c.769A>C (p.Thr257Pro) c.*62A>C (n.*62A>C) n.513A>C c.*433A>C (n.*433A>C) n.272A>C c.424A>C (p.Thr142Pro) | |
15 | g.26580400T= | CA2165760528 | GABRB3 | c.601A= (p.Thr201=) n.644A= c.284A= c.346A= (p.Thr116=) c.502A= (p.Thr168=) c.388A= (p.Thr130=) c.769A= (p.Thr257=) c.*62A= (n.*62A=) n.513A= c.*433A= (n.*433A=) n.272A= c.424A= (p.Thr142=) | |
15 | g.26580401A= | CA2165760529 | GABRB3 | c.600T= (p.Val200=) n.643T= c.283T= c.345T= (p.Val115=) c.501T= (p.Val167=) c.387T= (p.Val129=) c.768T= (p.Val256=) c.*61T= (n.*61T=) n.512T= c.*432T= (n.*432T=) n.271T= c.423T= (p.Val141=) | |
15 | g.26580401A>C | CA489071751 | GABRB3 | c.600T>G (p.Val200=) n.643T>G c.283T>G c.345T>G (p.Val115=) c.501T>G (p.Val167=) c.387T>G (p.Val129=) c.768T>G (p.Val256=) c.*61T>G (n.*61T>G) n.512T>G c.*432T>G (n.*432T>G) n.271T>G c.423T>G (p.Val141=) | |
15 | g.26580401A>G | CA489071749 | GABRB3 | c.600T>C (p.Val200=) n.643T>C c.283T>C c.345T>C (p.Val115=) c.501T>C (p.Val167=) c.387T>C (p.Val129=) c.768T>C (p.Val256=) c.*61T>C (n.*61T>C) n.512T>C c.*432T>C (n.*432T>C) n.271T>C c.423T>C (p.Val141=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
15 | g.26580401A>T | CA489071750 | GABRB3 | c.600T>A (p.Val200=) n.643T>A c.283T>A c.345T>A (p.Val115=) c.501T>A (p.Val167=) c.387T>A (p.Val129=) c.768T>A (p.Val256=) c.*61T>A (n.*61T>A) n.512T>A c.*432T>A (n.*432T>A) n.271T>A c.423T>A (p.Val141=) | |
15 | g.26580402A>C | CA391464081 | GABRB3 | c.599T>G (p.Val200Gly) n.642T>G c.282T>G c.344T>G (p.Val115Gly) c.500T>G (p.Val167Gly) c.386T>G (p.Val129Gly) c.767T>G (p.Val256Gly) c.*60T>G (n.*60T>G) n.511T>G c.*431T>G (n.*431T>G) n.270T>G c.422T>G (p.Val141Gly) | |
15 | g.26580402A>G | CA391464083 | GABRB3 | c.599T>C (p.Val200Ala) n.642T>C c.282T>C c.344T>C (p.Val115Ala) c.500T>C (p.Val167Ala) c.386T>C (p.Val129Ala) c.767T>C (p.Val256Ala) c.*60T>C (n.*60T>C) n.511T>C c.*431T>C (n.*431T>C) n.270T>C c.422T>C (p.Val141Ala) | gnomAD v4 COSMIC COSMIC COSMIC |
15 | g.26580402A>T | CA391464082 | GABRB3 | c.599T>A (p.Val200Asp) n.642T>A c.282T>A c.344T>A (p.Val115Asp) c.500T>A (p.Val167Asp) c.386T>A (p.Val129Asp) c.767T>A (p.Val256Asp) c.*60T>A (n.*60T>A) n.511T>A c.*431T>A (n.*431T>A) n.270T>A c.422T>A (p.Val141Asp) | |
15 | g.26580403C>A | CA391464084 | GABRB3 | c.598G>T (p.Val200Phe) n.641G>T c.281G>T c.343G>T (p.Val115Phe) c.499G>T (p.Val167Phe) c.385G>T (p.Val129Phe) c.766G>T (p.Val256Phe) c.*59G>T (n.*59G>T) n.510G>T c.*430G>T (n.*430G>T) n.269G>T c.421G>T (p.Val141Phe) | dbSNP |
15 | g.26580403C= | CA2165760530 | GABRB3 | c.598G= (p.Val200=) n.641G= c.281G= c.343G= (p.Val115=) c.499G= (p.Val167=) c.385G= (p.Val129=) c.766G= (p.Val256=) c.*59G= (n.*59G=) n.510G= c.*430G= (n.*430G=) n.269G= c.421G= (p.Val141=) | |
15 | g.26580403C>G | CA391464085 | GABRB3 | c.598G>C (p.Val200Leu) n.641G>C c.281G>C c.343G>C (p.Val115Leu) c.499G>C (p.Val167Leu) c.385G>C (p.Val129Leu) c.766G>C (p.Val256Leu) c.*59G>C (n.*59G>C) n.510G>C c.*430G>C (n.*430G>C) n.269G>C c.421G>C (p.Val141Leu) | |
15 | g.26580403C>T | CA7437402 | GABRB3 | c.598G>A (p.Val200Ile) n.641G>A c.281G>A c.343G>A (p.Val115Ile) c.499G>A (p.Val167Ile) c.385G>A (p.Val129Ile) c.766G>A (p.Val256Ile) c.*59G>A (n.*59G>A) n.510G>A c.*430G>A (n.*430G>A) n.269G>A c.421G>A (p.Val141Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.26580404A= | CA2165760531 | GABRB3 | c.597T= (p.Ala199=) n.640T= c.280T= c.342T= (p.Ala114=) c.498T= (p.Ala166=) c.384T= (p.Ala128=) c.765T= (p.Ala255=) c.*58T= (n.*58T=) n.509T= c.*429T= (n.*429T=) n.268T= c.420T= (p.Ala140=) | |
15 | g.26580404A>C | CA489071752 | GABRB3 | c.597T>G (p.Ala199=) n.640T>G c.280T>G c.342T>G (p.Ala114=) c.498T>G (p.Ala166=) c.384T>G (p.Ala128=) c.765T>G (p.Ala255=) c.*58T>G (n.*58T>G) n.509T>G c.*429T>G (n.*429T>G) n.268T>G c.420T>G (p.Ala140=) | |
15 | g.26580404A>G | CA489071753 | GABRB3 | c.597T>C (p.Ala199=) n.640T>C c.280T>C c.342T>C (p.Ala114=) c.498T>C (p.Ala166=) c.384T>C (p.Ala128=) c.765T>C (p.Ala255=) c.*58T>C (n.*58T>C) n.509T>C c.*429T>C (n.*429T>C) n.268T>C c.420T>C (p.Ala140=) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.26580404A>T | CA489071754 | GABRB3 | c.597T>A (p.Ala199=) n.640T>A c.280T>A c.342T>A (p.Ala114=) c.498T>A (p.Ala166=) c.384T>A (p.Ala128=) c.765T>A (p.Ala255=) c.*58T>A (n.*58T>A) n.509T>A c.*429T>A (n.*429T>A) n.268T>A c.420T>A (p.Ala140=) | |
15 | g.26580405G>A | CA391464086 | GABRB3 | c.596C>T (p.Ala199Val) n.639C>T c.279C>T c.341C>T (p.Ala114Val) c.497C>T (p.Ala166Val) c.383C>T (p.Ala128Val) c.764C>T (p.Ala255Val) c.*57C>T (n.*57C>T) n.508C>T c.*428C>T (n.*428C>T) n.267C>T c.419C>T (p.Ala140Val) | dbSNP COSMIC COSMIC COSMIC |
15 | g.26580405G>C | CA391464087 | GABRB3 | c.596C>G (p.Ala199Gly) n.639C>G c.279C>G c.341C>G (p.Ala114Gly) c.497C>G (p.Ala166Gly) c.383C>G (p.Ala128Gly) c.764C>G (p.Ala255Gly) c.*57C>G (n.*57C>G) n.508C>G c.*428C>G (n.*428C>G) n.267C>G c.419C>G (p.Ala140Gly) | |
15 | g.26580405G= | CA2165760532 | GABRB3 | c.596C= (p.Ala199=) n.639C= c.279C= c.341C= (p.Ala114=) c.497C= (p.Ala166=) c.383C= (p.Ala128=) c.764C= (p.Ala255=) c.*57C= (n.*57C=) n.508C= c.*428C= (n.*428C=) n.267C= c.419C= (p.Ala140=) | |
15 | g.26580405G>T | CA391464088 | GABRB3 | c.596C>A (p.Ala199Asp) n.639C>A c.279C>A c.341C>A (p.Ala114Asp) c.497C>A (p.Ala166Asp) c.383C>A (p.Ala128Asp) c.764C>A (p.Ala255Asp) c.*57C>A (n.*57C>A) n.508C>A c.*428C>A (n.*428C>A) n.267C>A c.419C>A (p.Ala140Asp) | |
15 | g.26580406C>A | CA391464091 | GABRB3 | c.595G>T (p.Ala199Ser) n.638G>T c.278G>T c.340G>T (p.Ala114Ser) c.496G>T (p.Ala166Ser) c.382G>T (p.Ala128Ser) c.763G>T (p.Ala255Ser) c.*56G>T (n.*56G>T) n.507G>T c.*427G>T (n.*427G>T) n.266G>T c.418G>T (p.Ala140Ser) | |
15 | g.26580406C>G | CA391464089 | GABRB3 | c.595G>C (p.Ala199Pro) n.638G>C c.278G>C c.340G>C (p.Ala114Pro) c.496G>C (p.Ala166Pro) c.382G>C (p.Ala128Pro) c.763G>C (p.Ala255Pro) c.*56G>C (n.*56G>C) n.507G>C c.*427G>C (n.*427G>C) n.266G>C c.418G>C (p.Ala140Pro) | |
15 | g.26580406C>T | CA391464090 | GABRB3 | c.595G>A (p.Ala199Thr) n.638G>A c.278G>A c.340G>A (p.Ala114Thr) c.496G>A (p.Ala166Thr) c.382G>A (p.Ala128Thr) c.763G>A (p.Ala255Thr) c.*56G>A (n.*56G>A) n.507G>A c.*427G>A (n.*427G>A) n.266G>A c.418G>A (p.Ala140Thr) | |
15 | g.26580407C>A | CA391464092 | GABRB3 | c.594G>T (p.Lys198Asn) n.637G>T c.277G>T c.339G>T (p.Lys113Asn) c.495G>T (p.Lys165Asn) c.381G>T (p.Lys127Asn) c.762G>T (p.Lys254Asn) c.*55G>T (n.*55G>T) n.506G>T c.*426G>T (n.*426G>T) n.265G>T c.417G>T (p.Lys139Asn) | dbSNP |
15 | g.26580407C= | CA2165760533 | GABRB3 | c.594G= (p.Lys198=) n.637G= c.277G= c.339G= (p.Lys113=) c.495G= (p.Lys165=) c.381G= (p.Lys127=) c.762G= (p.Lys254=) c.*55G= (n.*55G=) n.506G= c.*426G= (n.*426G=) n.265G= c.417G= (p.Lys139=) | |
15 | g.26580407C>G | CA391464093 | GABRB3 | c.594G>C (p.Lys198Asn) n.637G>C c.277G>C c.339G>C (p.Lys113Asn) c.495G>C (p.Lys165Asn) c.381G>C (p.Lys127Asn) c.762G>C (p.Lys254Asn) c.*55G>C (n.*55G>C) n.506G>C c.*426G>C (n.*426G>C) n.265G>C c.417G>C (p.Lys139Asn) | |
15 | g.26580407C>T | CA489071755 | GABRB3 | c.594G>A (p.Lys198=) n.637G>A c.277G>A c.339G>A (p.Lys113=) c.495G>A (p.Lys165=) c.381G>A (p.Lys127=) c.762G>A (p.Lys254=) c.*55G>A (n.*55G>A) n.506G>A c.*426G>A (n.*426G>A) n.265G>A c.417G>A (p.Lys139=) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
15 | g.26580408T>A | CA391464095 | GABRB3 | c.593A>T (p.Lys198Met) n.636A>T c.276A>T c.338A>T (p.Lys113Met) c.494A>T (p.Lys165Met) c.380A>T (p.Lys127Met) c.761A>T (p.Lys254Met) c.*54A>T (n.*54A>T) n.505A>T c.*425A>T (n.*425A>T) n.264A>T c.416A>T (p.Lys139Met) | |
15 | g.26580408T>C | CA391464096 | GABRB3 | c.593A>G (p.Lys198Arg) n.636A>G c.276A>G c.338A>G (p.Lys113Arg) c.494A>G (p.Lys165Arg) c.380A>G (p.Lys127Arg) c.761A>G (p.Lys254Arg) c.*54A>G (n.*54A>G) n.505A>G c.*425A>G (n.*425A>G) n.264A>G c.416A>G (p.Lys139Arg) | |
15 | g.26580408T>G | CA391464097 | GABRB3 | c.593A>C (p.Lys198Thr) n.636A>C c.276A>C c.338A>C (p.Lys113Thr) c.494A>C (p.Lys165Thr) c.380A>C (p.Lys127Thr) c.761A>C (p.Lys254Thr) c.*54A>C (n.*54A>C) n.505A>C c.*425A>C (n.*425A>C) n.264A>C c.416A>C (p.Lys139Thr) | ClinVar |
15 | g.26580409T>A | CA391464098 | GABRB3 | c.592A>T (p.Lys198Ter) n.635A>T c.275A>T c.337A>T (p.Lys113Ter) c.493A>T (p.Lys165Ter) c.379A>T (p.Lys127Ter) c.760A>T (p.Lys254Ter) c.*53A>T (n.*53A>T) n.504A>T c.*424A>T (n.*424A>T) n.263A>T c.415A>T (p.Lys139Ter) | COSMIC COSMIC COSMIC |
15 | g.26580409T>C | CA391464100 | GABRB3 | c.592A>G (p.Lys198Glu) n.635A>G c.275A>G c.337A>G (p.Lys113Glu) c.493A>G (p.Lys165Glu) c.379A>G (p.Lys127Glu) c.760A>G (p.Lys254Glu) c.*53A>G (n.*53A>G) n.504A>G c.*424A>G (n.*424A>G) n.263A>G c.415A>G (p.Lys139Glu) | gnomAD v4 |
15 | g.26580409T>G | CA391464099 | GABRB3 | c.592A>C (p.Lys198Gln) n.635A>C c.275A>C c.337A>C (p.Lys113Gln) c.493A>C (p.Lys165Gln) c.379A>C (p.Lys127Gln) c.760A>C (p.Lys254Gln) c.*53A>C (n.*53A>C) n.504A>C c.*424A>C (n.*424A>C) n.263A>C c.415A>C (p.Lys139Gln) | |
15 | g.26580410G>A | CA489071756 | GABRB3 | c.591C>T (p.Asp197=) n.634C>T c.274C>T c.336C>T (p.Asp112=) c.492C>T (p.Asp164=) c.378C>T (p.Asp126=) c.759C>T (p.Asp253=) c.*52C>T (n.*52C>T) n.503C>T c.*423C>T (n.*423C>T) n.262C>T c.414C>T (p.Asp138=) | |
15 | g.26580410G>C | CA391464101 | GABRB3 | c.591C>G (p.Asp197Glu) n.634C>G c.274C>G c.336C>G (p.Asp112Glu) c.492C>G (p.Asp164Glu) c.378C>G (p.Asp126Glu) c.759C>G (p.Asp253Glu) c.*52C>G (n.*52C>G) n.503C>G c.*423C>G (n.*423C>G) n.262C>G c.414C>G (p.Asp138Glu) | |
15 | g.26580410G>T | CA391464102 | GABRB3 | c.591C>A (p.Asp197Glu) n.634C>A c.274C>A c.336C>A (p.Asp112Glu) c.492C>A (p.Asp164Glu) c.378C>A (p.Asp126Glu) c.759C>A (p.Asp253Glu) c.*52C>A (n.*52C>A) n.503C>A c.*423C>A (n.*423C>A) n.262C>A c.414C>A (p.Asp138Glu) | |
15 | g.26580411T>A | CA391464103 | GABRB3 | c.590A>T (p.Asp197Val) n.633A>T c.273A>T c.335A>T (p.Asp112Val) c.491A>T (p.Asp164Val) c.377A>T (p.Asp126Val) c.758A>T (p.Asp253Val) c.*51A>T (n.*51A>T) n.502A>T c.*422A>T (n.*422A>T) n.261A>T c.413A>T (p.Asp138Val) | |
15 | g.26580411T>C | CA391464105 | GABRB3 | c.590A>G (p.Asp197Gly) n.633A>G c.273A>G c.335A>G (p.Asp112Gly) c.491A>G (p.Asp164Gly) c.377A>G (p.Asp126Gly) c.758A>G (p.Asp253Gly) c.*51A>G (n.*51A>G) n.502A>G c.*422A>G (n.*422A>G) n.261A>G c.413A>G (p.Asp138Gly) | dbSNP |
15 | g.26580411T>G | CA391464106 | GABRB3 | c.590A>C (p.Asp197Ala) n.633A>C c.273A>C c.335A>C (p.Asp112Ala) c.491A>C (p.Asp164Ala) c.377A>C (p.Asp126Ala) c.758A>C (p.Asp253Ala) c.*51A>C (n.*51A>C) n.502A>C c.*422A>C (n.*422A>C) n.261A>C c.413A>C (p.Asp138Ala) | |
15 | g.26580411T= | CA2165760534 | GABRB3 | c.590A= (p.Asp197=) n.633A= c.273A= c.335A= (p.Asp112=) c.491A= (p.Asp164=) c.377A= (p.Asp126=) c.758A= (p.Asp253=) c.*51A= (n.*51A=) n.502A= c.*422A= (n.*422A=) n.261A= c.413A= (p.Asp138=) | |
15 | g.26580412C>A | CA391464107 | GABRB3 | c.589G>T (p.Asp197Tyr) n.632G>T c.272G>T c.334G>T (p.Asp112Tyr) c.490G>T (p.Asp164Tyr) c.376G>T (p.Asp126Tyr) c.757G>T (p.Asp253Tyr) c.*50G>T (n.*50G>T) n.501G>T c.*421G>T (n.*421G>T) n.260G>T c.412G>T (p.Asp138Tyr) | ClinVar |
15 | g.26580412C= | CA2165760535 | GABRB3 | c.589G= (p.Asp197=) n.632G= c.272G= c.334G= (p.Asp112=) c.490G= (p.Asp164=) c.376G= (p.Asp126=) c.757G= (p.Asp253=) c.*50G= (n.*50G=) n.501G= c.*421G= (n.*421G=) n.260G= c.412G= (p.Asp138=) | |
15 | g.26580412C>G | CA391464108 | GABRB3 | c.589G>C (p.Asp197His) n.632G>C c.272G>C c.334G>C (p.Asp112His) c.490G>C (p.Asp164His) c.376G>C (p.Asp126His) c.757G>C (p.Asp253His) c.*50G>C (n.*50G>C) n.501G>C c.*421G>C (n.*421G>C) n.260G>C c.412G>C (p.Asp138His) | |
15 | g.26580412C>T | CA7437403 | GABRB3 | c.589G>A (p.Asp197Asn) n.632G>A c.272G>A c.334G>A (p.Asp112Asn) c.490G>A (p.Asp164Asn) c.376G>A (p.Asp126Asn) c.757G>A (p.Asp253Asn) c.*50G>A (n.*50G>A) n.501G>A c.*421G>A (n.*421G>A) n.260G>A c.412G>A (p.Asp138Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.26580413C>A | CA489071757 | GABRB3 | c.588G>T (p.Gly196=) n.631G>T c.271G>T c.333G>T (p.Gly111=) c.489G>T (p.Gly163=) c.375G>T (p.Gly125=) c.756G>T (p.Gly252=) c.*49G>T (n.*49G>T) n.500G>T c.*420G>T (n.*420G>T) n.259G>T c.411G>T (p.Gly137=) | |
15 | g.26580413C= | CA2165760536 | GABRB3 | c.588G= (p.Gly196=) n.631G= c.271G= c.333G= (p.Gly111=) c.489G= (p.Gly163=) c.375G= (p.Gly125=) c.756G= (p.Gly252=) c.*49G= (n.*49G=) n.500G= c.*420G= (n.*420G=) n.259G= c.411G= (p.Gly137=) | |
15 | g.26580413C>G | CA489071758 | GABRB3 | c.588G>C (p.Gly196=) n.631G>C c.271G>C c.333G>C (p.Gly111=) c.489G>C (p.Gly163=) c.375G>C (p.Gly125=) c.756G>C (p.Gly252=) c.*49G>C (n.*49G>C) n.500G>C c.*420G>C (n.*420G>C) n.259G>C c.411G>C (p.Gly137=) | |
15 | g.26580413C>T | CA489071759 | GABRB3 | c.588G>A (p.Gly196=) n.631G>A c.271G>A c.333G>A (p.Gly111=) c.489G>A (p.Gly163=) c.375G>A (p.Gly125=) c.756G>A (p.Gly252=) c.*49G>A (n.*49G>A) n.500G>A c.*420G>A (n.*420G>A) n.259G>A c.411G>A (p.Gly137=) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.26580414C>A | CA391464109 | GABRB3 | c.587G>T (p.Gly196Val) n.630G>T c.270G>T c.332G>T (p.Gly111Val) c.488G>T (p.Gly163Val) c.374G>T (p.Gly125Val) c.755G>T (p.Gly252Val) c.*48G>T (n.*48G>T) n.499G>T c.*419G>T (n.*419G>T) n.258G>T c.410G>T (p.Gly137Val) | |
15 | g.26580414C= | CA2165760537 | GABRB3 | c.587G= (p.Gly196=) n.630G= c.270G= c.332G= (p.Gly111=) c.488G= (p.Gly163=) c.374G= (p.Gly125=) c.755G= (p.Gly252=) c.*48G= (n.*48G=) n.499G= c.*419G= (n.*419G=) n.258G= c.410G= (p.Gly137=) | |
15 | g.26580414C>G | CA391464110 | GABRB3 | c.587G>C (p.Gly196Ala) n.630G>C c.270G>C c.332G>C (p.Gly111Ala) c.488G>C (p.Gly163Ala) c.374G>C (p.Gly125Ala) c.755G>C (p.Gly252Ala) c.*48G>C (n.*48G>C) n.499G>C c.*419G>C (n.*419G>C) n.258G>C c.410G>C (p.Gly137Ala) | |
15 | g.26580414C>T | CA391464111 | GABRB3 | c.587G>A (p.Gly196Glu) n.630G>A c.270G>A c.332G>A (p.Gly111Glu) c.488G>A (p.Gly163Glu) c.374G>A (p.Gly125Glu) c.755G>A (p.Gly252Glu) c.*48G>A (n.*48G>A) n.499G>A c.*419G>A (n.*419G>A) n.258G>A c.410G>A (p.Gly137Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.26580415C>A | CA391464113 | GABRB3 | c.586G>T (p.Gly196Trp) n.629G>T c.269G>T c.331G>T (p.Gly111Trp) c.487G>T (p.Gly163Trp) c.373G>T (p.Gly125Trp) c.754G>T (p.Gly252Trp) c.*47G>T (n.*47G>T) n.498G>T c.*418G>T (n.*418G>T) n.257G>T c.409G>T (p.Gly137Trp) | |
15 | g.26580415C= | CA2165760538 | GABRB3 | c.586G= (p.Gly196=) n.629G= c.269G= c.331G= (p.Gly111=) c.487G= (p.Gly163=) c.373G= (p.Gly125=) c.754G= (p.Gly252=) c.*47G= (n.*47G=) n.498G= c.*418G= (n.*418G=) n.257G= c.409G= (p.Gly137=) | |
15 | g.26580415C>G | CA391464118 | GABRB3 | c.586G>C (p.Gly196Arg) n.629G>C c.269G>C c.331G>C (p.Gly111Arg) c.487G>C (p.Gly163Arg) c.373G>C (p.Gly125Arg) c.754G>C (p.Gly252Arg) c.*47G>C (n.*47G>C) n.498G>C c.*418G>C (n.*418G>C) n.257G>C c.409G>C (p.Gly137Arg) | |
15 | g.26580415C>T | CA391464116 | GABRB3 | c.586G>A (p.Gly196Arg) n.629G>A c.269G>A c.331G>A (p.Gly111Arg) c.487G>A (p.Gly163Arg) c.373G>A (p.Gly125Arg) c.754G>A (p.Gly252Arg) c.*47G>A (n.*47G>A) n.498G>A c.*418G>A (n.*418G>A) n.257G>A c.409G>A (p.Gly137Arg) | dbSNP gnomAD v4 COSMIC COSMIC COSMIC |
15 | g.26580416G>A | CA7437404 | GABRB3 | c.585C>T (p.Gly195=) n.628C>T c.268C>T c.330C>T (p.Gly110=) c.486C>T (p.Gly162=) c.372C>T (p.Gly124=) c.753C>T (p.Gly251=) c.*46C>T (n.*46C>T) n.497C>T c.*417C>T (n.*417C>T) n.256C>T c.408C>T (p.Gly136=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.26580416G>C | CA489071760 | GABRB3 | c.585C>G (p.Gly195=) n.628C>G c.268C>G c.330C>G (p.Gly110=) c.486C>G (p.Gly162=) c.372C>G (p.Gly124=) c.753C>G (p.Gly251=) c.*46C>G (n.*46C>G) n.497C>G c.*417C>G (n.*417C>G) n.256C>G c.408C>G (p.Gly136=) | dbSNP |
15 | g.26580416G= | CA2165760539 | GABRB3 | c.585C= (p.Gly195=) n.628C= c.268C= c.330C= (p.Gly110=) c.486C= (p.Gly162=) c.372C= (p.Gly124=) c.753C= (p.Gly251=) c.*46C= (n.*46C=) n.497C= c.*417C= (n.*417C=) n.256C= c.408C= (p.Gly136=) | |
15 | g.26580416G>T | CA489071761 | GABRB3 | c.585C>A (p.Gly195=) n.628C>A c.268C>A c.330C>A (p.Gly110=) c.486C>A (p.Gly162=) c.372C>A (p.Gly124=) c.753C>A (p.Gly251=) c.*46C>A (n.*46C>A) n.497C>A c.*417C>A (n.*417C>A) n.256C>A c.408C>A (p.Gly136=) | |
15 | g.26580417C>A | CA391464119 | GABRB3 | c.584G>T (p.Gly195Val) n.627G>T c.267G>T c.329G>T (p.Gly110Val) c.485G>T (p.Gly162Val) c.371G>T (p.Gly124Val) c.752G>T (p.Gly251Val) c.*45G>T (n.*45G>T) n.496G>T c.*416G>T (n.*416G>T) n.255G>T c.407G>T (p.Gly136Val) | |
15 | g.26580417C= | CA2165760540 | GABRB3 | c.584G= (p.Gly195=) n.627G= c.267G= c.329G= (p.Gly110=) c.485G= (p.Gly162=) c.371G= (p.Gly124=) c.752G= (p.Gly251=) c.*45G= (n.*45G=) n.496G= c.*416G= (n.*416G=) n.255G= c.407G= (p.Gly136=) | |
15 | g.26580417C>G | CA391464120 | GABRB3 | c.584G>C (p.Gly195Ala) n.627G>C c.267G>C c.329G>C (p.Gly110Ala) c.485G>C (p.Gly162Ala) c.371G>C (p.Gly124Ala) c.752G>C (p.Gly251Ala) c.*45G>C (n.*45G>C) n.496G>C c.*416G>C (n.*416G>C) n.255G>C c.407G>C (p.Gly136Ala) | |
15 | g.26580417C>T | CA391464125 | GABRB3 | c.584G>A (p.Gly195Asp) n.627G>A c.267G>A c.329G>A (p.Gly110Asp) c.485G>A (p.Gly162Asp) c.371G>A (p.Gly124Asp) c.752G>A (p.Gly251Asp) c.*45G>A (n.*45G>A) n.496G>A c.*416G>A (n.*416G>A) n.255G>A c.407G>A (p.Gly136Asp) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.26580418C>A | CA391464126 | GABRB3 | c.583G>T (p.Gly195Cys) n.626G>T c.266G>T c.328G>T (p.Gly110Cys) c.484G>T (p.Gly162Cys) c.370G>T (p.Gly124Cys) c.751G>T (p.Gly251Cys) c.*44G>T (n.*44G>T) n.495G>T c.*415G>T (n.*415G>T) n.254G>T c.406G>T (p.Gly136Cys) | |
15 | g.26580418C>G | CA391464128 | GABRB3 | c.583G>C (p.Gly195Arg) n.626G>C c.266G>C c.328G>C (p.Gly110Arg) c.484G>C (p.Gly162Arg) c.370G>C (p.Gly124Arg) c.751G>C (p.Gly251Arg) c.*44G>C (n.*44G>C) n.495G>C c.*415G>C (n.*415G>C) n.254G>C c.406G>C (p.Gly136Arg) | |
15 | g.26580418C>T | CA391464129 | GABRB3 | c.583G>A (p.Gly195Ser) n.626G>A c.266G>A c.328G>A (p.Gly110Ser) c.484G>A (p.Gly162Ser) c.370G>A (p.Gly124Ser) c.751G>A (p.Gly251Ser) c.*44G>A (n.*44G>A) n.495G>A c.*415G>A (n.*415G>A) n.254G>A c.406G>A (p.Gly136Ser) | |
15 | g.26580419T>A | CA489071762 | GABRB3 | c.582A>T (p.Arg194=) n.625A>T c.265A>T c.327A>T (p.Arg109=) c.483A>T (p.Arg161=) c.369A>T (p.Arg123=) c.750A>T (p.Arg250=) c.*43A>T (n.*43A>T) n.494A>T c.*414A>T (n.*414A>T) n.253A>T c.405A>T (p.Arg135=) | COSMIC COSMIC COSMIC |
15 | g.26580419T>C | CA489071763 | GABRB3 | c.582A>G (p.Arg194=) n.625A>G c.265A>G c.327A>G (p.Arg109=) c.483A>G (p.Arg161=) c.369A>G (p.Arg123=) c.750A>G (p.Arg250=) c.*43A>G (n.*43A>G) n.494A>G c.*414A>G (n.*414A>G) n.253A>G c.405A>G (p.Arg135=) | gnomAD v4 |
15 | g.26580419T>G | CA489071764 | GABRB3 | c.582A>C (p.Arg194=) n.625A>C c.265A>C c.327A>C (p.Arg109=) c.483A>C (p.Arg161=) c.369A>C (p.Arg123=) c.750A>C (p.Arg250=) c.*43A>C (n.*43A>C) n.494A>C c.*414A>C (n.*414A>C) n.253A>C c.405A>C (p.Arg135=) | |
15 | g.26580420C>A | CA391464131 | GABRB3 | c.581G>T (p.Arg194Leu) n.624G>T c.264G>T c.326G>T (p.Arg109Leu) c.482G>T (p.Arg161Leu) c.368G>T (p.Arg123Leu) c.749G>T (p.Arg250Leu) c.*42G>T (n.*42G>T) n.493G>T c.*413G>T (n.*413G>T) n.252G>T c.404G>T (p.Arg135Leu) | |
15 | g.26580420C= | CA2165760541 | GABRB3 | c.581G= (p.Arg194=) n.624G= c.264G= c.326G= (p.Arg109=) c.482G= (p.Arg161=) c.368G= (p.Arg123=) c.749G= (p.Arg250=) c.*42G= (n.*42G=) n.493G= c.*413G= (n.*413G=) n.252G= c.404G= (p.Arg135=) | |
15 | g.26580420C>G | CA391464132 | GABRB3 | c.581G>C (p.Arg194Pro) n.624G>C c.264G>C c.326G>C (p.Arg109Pro) c.482G>C (p.Arg161Pro) c.368G>C (p.Arg123Pro) c.749G>C (p.Arg250Pro) c.*42G>C (n.*42G>C) n.493G>C c.*413G>C (n.*413G>C) n.252G>C c.404G>C (p.Arg135Pro) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.26580420C>T | CA268156810 | GABRB3 | c.581G>A (p.Arg194Gln) n.624G>A c.264G>A c.326G>A (p.Arg109Gln) c.482G>A (p.Arg161Gln) c.368G>A (p.Arg123Gln) c.749G>A (p.Arg250Gln) c.*42G>A (n.*42G>A) n.493G>A c.*413G>A (n.*413G>A) n.252G>A c.404G>A (p.Arg135Gln) | ClinVar dbSNP gnomAD v4 |
15 | g.26580421G>A | CA391464135 | GABRB3 | c.580C>T (p.Arg194Ter) n.623C>T c.263C>T c.325C>T (p.Arg109Ter) c.481C>T (p.Arg161Ter) c.367C>T (p.Arg123Ter) c.748C>T (p.Arg250Ter) c.*41C>T (n.*41C>T) n.492C>T c.*412C>T (n.*412C>T) n.251C>T c.403C>T (p.Arg135Ter) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC |
15 | g.26580421G>C | CA391464136 | GABRB3 | c.580C>G (p.Arg194Gly) n.623C>G c.263C>G c.325C>G (p.Arg109Gly) c.481C>G (p.Arg161Gly) c.367C>G (p.Arg123Gly) c.748C>G (p.Arg250Gly) c.*41C>G (n.*41C>G) n.492C>G c.*412C>G (n.*412C>G) n.251C>G c.403C>G (p.Arg135Gly) | |
15 | g.26580421G= | CA2165760542 | GABRB3 | c.580C= (p.Arg194=) n.623C= c.263C= c.325C= (p.Arg109=) c.481C= (p.Arg161=) c.367C= (p.Arg123=) c.748C= (p.Arg250=) c.*41C= (n.*41C=) n.492C= c.*412C= (n.*412C=) n.251C= c.403C= (p.Arg135=) | |
15 | g.26580421G>T | CA489071765 | GABRB3 | c.580C>A (p.Arg194=) n.623C>A c.263C>A c.325C>A (p.Arg109=) c.481C>A (p.Arg161=) c.367C>A (p.Arg123=) c.748C>A (p.Arg250=) c.*41C>A (n.*41C>A) n.492C>A c.*412C>A (n.*412C>A) n.251C>A c.403C>A (p.Arg135=) | gnomAD v4 |
15 | g.26580422C>A | CA391464139 | GABRB3 | c.579G>T (p.Trp193Cys) n.622G>T c.262G>T c.324G>T (p.Trp108Cys) c.480G>T (p.Trp160Cys) c.366G>T (p.Trp122Cys) c.747G>T (p.Trp249Cys) c.*40G>T (n.*40G>T) n.491G>T c.*411G>T (n.*411G>T) n.250G>T c.402G>T (p.Trp134Cys) | |
15 | g.26580422C>G | CA391464137 | GABRB3 | c.579G>C (p.Trp193Cys) n.622G>C c.262G>C c.324G>C (p.Trp108Cys) c.480G>C (p.Trp160Cys) c.366G>C (p.Trp122Cys) c.747G>C (p.Trp249Cys) c.*40G>C (n.*40G>C) n.491G>C c.*411G>C (n.*411G>C) n.250G>C c.402G>C (p.Trp134Cys) | |
15 | g.26580422C>T | CA391464138 | GABRB3 | c.579G>A (p.Trp193Ter) n.622G>A c.262G>A c.324G>A (p.Trp108Ter) c.480G>A (p.Trp160Ter) c.366G>A (p.Trp122Ter) c.747G>A (p.Trp249Ter) c.*40G>A (n.*40G>A) n.491G>A c.*411G>A (n.*411G>A) n.250G>A c.402G>A (p.Trp134Ter) | |
15 | g.26580423C>A | CA391464140 | GABRB3 | c.578G>T (p.Trp193Leu) n.621G>T c.261G>T c.323G>T (p.Trp108Leu) c.479G>T (p.Trp160Leu) c.365G>T (p.Trp122Leu) c.746G>T (p.Trp249Leu) c.*39G>T (n.*39G>T) n.490G>T c.*410G>T (n.*410G>T) n.249G>T c.401G>T (p.Trp134Leu) | |
15 | g.26580423C>G | CA391464141 | GABRB3 | c.578G>C (p.Trp193Ser) n.621G>C c.261G>C c.323G>C (p.Trp108Ser) c.479G>C (p.Trp160Ser) c.365G>C (p.Trp122Ser) c.746G>C (p.Trp249Ser) c.*39G>C (n.*39G>C) n.490G>C c.*410G>C (n.*410G>C) n.249G>C c.401G>C (p.Trp134Ser) | |
15 | g.26580423C>T | CA391464142 | GABRB3 | c.578G>A (p.Trp193Ter) n.621G>A c.261G>A c.323G>A (p.Trp108Ter) c.479G>A (p.Trp160Ter) c.365G>A (p.Trp122Ter) c.746G>A (p.Trp249Ter) c.*39G>A (n.*39G>A) n.490G>A c.*410G>A (n.*410G>A) n.249G>A c.401G>A (p.Trp134Ter) | COSMIC COSMIC COSMIC |
15 | g.26580424A>C | CA391464143 | GABRB3 | c.577T>G (p.Trp193Gly) n.620T>G c.260T>G c.322T>G (p.Trp108Gly) c.478T>G (p.Trp160Gly) c.364T>G (p.Trp122Gly) c.745T>G (p.Trp249Gly) c.*38T>G (n.*38T>G) n.489T>G c.*409T>G (n.*409T>G) n.248T>G c.400T>G (p.Trp134Gly) | |
15 | g.26580424A>G | CA391464144 | GABRB3 | c.577T>C (p.Trp193Arg) n.620T>C c.260T>C c.322T>C (p.Trp108Arg) c.478T>C (p.Trp160Arg) c.364T>C (p.Trp122Arg) c.745T>C (p.Trp249Arg) c.*38T>C (n.*38T>C) n.489T>C c.*409T>C (n.*409T>C) n.248T>C c.400T>C (p.Trp134Arg) | |
15 | g.26580424A>T | CA391464145 | GABRB3 | c.577T>A (p.Trp193Arg) n.620T>A c.260T>A c.322T>A (p.Trp108Arg) c.478T>A (p.Trp160Arg) c.364T>A (p.Trp122Arg) c.745T>A (p.Trp249Arg) c.*38T>A (n.*38T>A) n.489T>A c.*409T>A (n.*409T>A) n.248T>A c.400T>A (p.Trp134Arg) | |
15 | g.26580425G>A | CA489071766 | GABRB3 | c.576C>T (p.Tyr192=) n.619C>T c.259C>T c.321C>T (p.Tyr107=) c.477C>T (p.Tyr159=) c.363C>T (p.Tyr121=) c.744C>T (p.Tyr248=) c.*37C>T (n.*37C>T) n.488C>T c.*408C>T (n.*408C>T) n.247C>T c.399C>T (p.Tyr133=) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.26580425G>C | CA391464146 | GABRB3 | c.576C>G (p.Tyr192Ter) n.619C>G c.259C>G c.321C>G (p.Tyr107Ter) c.477C>G (p.Tyr159Ter) c.363C>G (p.Tyr121Ter) c.744C>G (p.Tyr248Ter) c.*37C>G (n.*37C>G) n.488C>G c.*408C>G (n.*408C>G) n.247C>G c.399C>G (p.Tyr133Ter) | |
15 | g.26580425G= | CA2165760543 | GABRB3 | c.576C= (p.Tyr192=) n.619C= c.259C= c.321C= (p.Tyr107=) c.477C= (p.Tyr159=) c.363C= (p.Tyr121=) c.744C= (p.Tyr248=) c.*37C= (n.*37C=) n.488C= c.*408C= (n.*408C=) n.247C= c.399C= (p.Tyr133=) | |
15 | g.26580425G>T | CA391464148 | GABRB3 | c.576C>A (p.Tyr192Ter) n.619C>A c.259C>A c.321C>A (p.Tyr107Ter) c.477C>A (p.Tyr159Ter) c.363C>A (p.Tyr121Ter) c.744C>A (p.Tyr248Ter) c.*37C>A (n.*37C>A) n.488C>A c.*408C>A (n.*408C>A) n.247C>A c.399C>A (p.Tyr133Ter) | |
15 | g.26580426T>A | CA391464149 | GABRB3 | c.575A>T (p.Tyr192Phe) n.618A>T c.258A>T c.320A>T (p.Tyr107Phe) c.476A>T (p.Tyr159Phe) c.362A>T (p.Tyr121Phe) c.743A>T (p.Tyr248Phe) c.*36A>T (n.*36A>T) n.487A>T c.*407A>T (n.*407A>T) n.246A>T c.398A>T (p.Tyr133Phe) | |
15 | g.26580426T>C | CA391464150 | GABRB3 | c.575A>G (p.Tyr192Cys) n.618A>G c.258A>G c.320A>G (p.Tyr107Cys) c.476A>G (p.Tyr159Cys) c.362A>G (p.Tyr121Cys) c.743A>G (p.Tyr248Cys) c.*36A>G (n.*36A>G) n.487A>G c.*407A>G (n.*407A>G) n.246A>G c.398A>G (p.Tyr133Cys) | |
15 | g.26580426T>G | CA391464152 | GABRB3 | c.575A>C (p.Tyr192Ser) n.618A>C c.258A>C c.320A>C (p.Tyr107Ser) c.476A>C (p.Tyr159Ser) c.362A>C (p.Tyr121Ser) c.743A>C (p.Tyr248Ser) c.*36A>C (n.*36A>C) n.487A>C c.*407A>C (n.*407A>C) n.246A>C c.398A>C (p.Tyr133Ser) | |
15 | g.26580427A>C | CA391464155 | GABRB3 | c.574T>G (p.Tyr192Asp) n.617T>G c.257T>G c.319T>G (p.Tyr107Asp) c.475T>G (p.Tyr159Asp) c.361T>G (p.Tyr121Asp) c.742T>G (p.Tyr248Asp) c.*35T>G (n.*35T>G) n.486T>G c.*406T>G (n.*406T>G) n.245T>G c.397T>G (p.Tyr133Asp) | |
15 | g.26580427A>G | CA391464156 | GABRB3 | c.574T>C (p.Tyr192His) n.617T>C c.257T>C c.319T>C (p.Tyr107His) c.475T>C (p.Tyr159His) c.361T>C (p.Tyr121His) c.742T>C (p.Tyr248His) c.*35T>C (n.*35T>C) n.486T>C c.*406T>C (n.*406T>C) n.245T>C c.397T>C (p.Tyr133His) | |
15 | g.26580427A>T | CA391464154 | GABRB3 | c.574T>A (p.Tyr192Asn) n.617T>A c.257T>A c.319T>A (p.Tyr107Asn) c.475T>A (p.Tyr159Asn) c.361T>A (p.Tyr121Asn) c.742T>A (p.Tyr248Asn) c.*35T>A (n.*35T>A) n.486T>A c.*406T>A (n.*406T>A) n.245T>A c.397T>A (p.Tyr133Asn) | |
15 | g.26580430dup | CA2575651460 | GABRB3 | c.574dup (p.Tyr192LeufsTer16) n.617dup c.257dup c.319dup (p.Tyr107LeufsTer16) c.475dup (p.Tyr159LeufsTer16) c.361dup (p.Tyr121LeufsTer16) c.742dup (p.Tyr248LeufsTer16) c.*35dup (n.*35dup) n.486dup c.*406dup (n.*406dup) n.245dup c.397dup (p.Tyr133LeufsTer16) | |
15 | g.26580428A>C | CA391464159 | GABRB3 | c.573T>G (p.Phe191Leu) n.616T>G c.256T>G c.318T>G (p.Phe106Leu) c.474T>G (p.Phe158Leu) c.360T>G (p.Phe120Leu) c.741T>G (p.Phe247Leu) c.*34T>G (n.*34T>G) n.485T>G c.*405T>G (n.*405T>G) n.244T>G c.396T>G (p.Phe132Leu) | |
15 | g.26580428A>G | CA489071767 | GABRB3 | c.573T>C (p.Phe191=) n.616T>C c.256T>C c.318T>C (p.Phe106=) c.474T>C (p.Phe158=) c.360T>C (p.Phe120=) c.741T>C (p.Phe247=) c.*34T>C (n.*34T>C) n.485T>C c.*405T>C (n.*405T>C) n.244T>C c.396T>C (p.Phe132=) | |
15 | g.26580428A>T | CA391464158 | GABRB3 | c.573T>A (p.Phe191Leu) n.616T>A c.256T>A c.318T>A (p.Phe106Leu) c.474T>A (p.Phe158Leu) c.360T>A (p.Phe120Leu) c.741T>A (p.Phe247Leu) c.*34T>A (n.*34T>A) n.485T>A c.*405T>A (n.*405T>A) n.244T>A c.396T>A (p.Phe132Leu) | |
15 | g.26580429A>C | CA391464160 | GABRB3 | c.572T>G (p.Phe191Cys) n.615T>G c.255T>G c.317T>G (p.Phe106Cys) c.473T>G (p.Phe158Cys) c.359T>G (p.Phe120Cys) c.740T>G (p.Phe247Cys) c.*33T>G (n.*33T>G) n.484T>G c.*404T>G (n.*404T>G) n.243T>G c.395T>G (p.Phe132Cys) | |
15 | g.26580429A>G | CA391464162 | GABRB3 | c.572T>C (p.Phe191Ser) n.615T>C c.255T>C c.317T>C (p.Phe106Ser) c.473T>C (p.Phe158Ser) c.359T>C (p.Phe120Ser) c.740T>C (p.Phe247Ser) c.*33T>C (n.*33T>C) n.484T>C c.*404T>C (n.*404T>C) n.243T>C c.395T>C (p.Phe132Ser) | |
15 | g.26580429A>T | CA391464163 | GABRB3 | c.572T>A (p.Phe191Tyr) n.615T>A c.255T>A c.317T>A (p.Phe106Tyr) c.473T>A (p.Phe158Tyr) c.359T>A (p.Phe120Tyr) c.740T>A (p.Phe247Tyr) c.*33T>A (n.*33T>A) n.484T>A c.*404T>A (n.*404T>A) n.243T>A c.395T>A (p.Phe132Tyr) | |
15 | g.26580430A>C | CA391464165 | GABRB3 | c.571T>G (p.Phe191Val) n.614T>G c.254T>G c.316T>G (p.Phe106Val) c.472T>G (p.Phe158Val) c.358T>G (p.Phe120Val) c.739T>G (p.Phe247Val) c.*32T>G (n.*32T>G) n.483T>G c.*403T>G (n.*403T>G) n.242T>G c.394T>G (p.Phe132Val) | |
15 | g.26580430A>G | CA391464166 | GABRB3 | c.571T>C (p.Phe191Leu) n.614T>C c.254T>C c.316T>C (p.Phe106Leu) c.472T>C (p.Phe158Leu) c.358T>C (p.Phe120Leu) c.739T>C (p.Phe247Leu) c.*32T>C (n.*32T>C) n.483T>C c.*403T>C (n.*403T>C) n.242T>C c.394T>C (p.Phe132Leu) | |
15 | g.26580430A>T | CA391464168 | GABRB3 | c.571T>A (p.Phe191Ile) n.614T>A c.254T>A c.316T>A (p.Phe106Ile) c.472T>A (p.Phe158Ile) c.358T>A (p.Phe120Ile) c.739T>A (p.Phe247Ile) c.*32T>A (n.*32T>A) n.483T>A c.*403T>A (n.*403T>A) n.242T>A c.394T>A (p.Phe132Ile) | |
15 | g.26580431C>A | CA391464169 | GABRB3 | c.570G>T (p.Glu190Asp) n.613G>T c.253G>T c.315G>T (p.Glu105Asp) c.471G>T (p.Glu157Asp) c.357G>T (p.Glu119Asp) c.738G>T (p.Glu246Asp) c.*31G>T (n.*31G>T) n.482G>T c.*402G>T (n.*402G>T) n.241G>T c.393G>T (p.Glu131Asp) | |
15 | g.26580431C>G | CA391464171 | GABRB3 | c.570G>C (p.Glu190Asp) n.613G>C c.253G>C c.315G>C (p.Glu105Asp) c.471G>C (p.Glu157Asp) c.357G>C (p.Glu119Asp) c.738G>C (p.Glu246Asp) c.*31G>C (n.*31G>C) n.482G>C c.*402G>C (n.*402G>C) n.241G>C c.393G>C (p.Glu131Asp) | |
15 | g.26580431C>T | CA489071768 | GABRB3 | c.570G>A (p.Glu190=) n.613G>A c.253G>A c.315G>A (p.Glu105=) c.471G>A (p.Glu157=) c.357G>A (p.Glu119=) c.738G>A (p.Glu246=) c.*31G>A (n.*31G>A) n.482G>A c.*402G>A (n.*402G>A) n.241G>A c.393G>A (p.Glu131=) | ClinVar dbSNP COSMIC COSMIC COSMIC |
15 | g.26580432T>A | CA391464172 | GABRB3 | c.569A>T (p.Glu190Val) n.612A>T c.252A>T c.314A>T (p.Glu105Val) c.470A>T (p.Glu157Val) c.356A>T (p.Glu119Val) c.737A>T (p.Glu246Val) c.*30A>T (n.*30A>T) n.481A>T c.*401A>T (n.*401A>T) n.240A>T c.392A>T (p.Glu131Val) | |
15 | g.26580432T>C | CA391464174 | GABRB3 | c.569A>G (p.Glu190Gly) n.612A>G c.252A>G c.314A>G (p.Glu105Gly) c.470A>G (p.Glu157Gly) c.356A>G (p.Glu119Gly) c.737A>G (p.Glu246Gly) c.*30A>G (n.*30A>G) n.481A>G c.*401A>G (n.*401A>G) n.240A>G c.392A>G (p.Glu131Gly) | |
15 | g.26580432T>G | CA391464175 | GABRB3 | c.569A>C (p.Glu190Ala) n.612A>C c.252A>C c.314A>C (p.Glu105Ala) c.470A>C (p.Glu157Ala) c.356A>C (p.Glu119Ala) c.737A>C (p.Glu246Ala) c.*30A>C (n.*30A>C) n.481A>C c.*401A>C (n.*401A>C) n.240A>C c.392A>C (p.Glu131Ala) | |
15 | g.26580433C>A | CA391464178 | GABRB3 | c.568G>T (p.Glu190Ter) n.611G>T c.251G>T c.313G>T (p.Glu105Ter) c.469G>T (p.Glu157Ter) c.355G>T (p.Glu119Ter) c.736G>T (p.Glu246Ter) c.*29G>T (n.*29G>T) n.480G>T c.*400G>T (n.*400G>T) n.239G>T c.391G>T (p.Glu131Ter) | |
15 | g.26580433C>G | CA391464180 | GABRB3 | c.568G>C (p.Glu190Gln) n.611G>C c.251G>C c.313G>C (p.Glu105Gln) c.469G>C (p.Glu157Gln) c.355G>C (p.Glu119Gln) c.736G>C (p.Glu246Gln) c.*29G>C (n.*29G>C) n.480G>C c.*400G>C (n.*400G>C) n.239G>C c.391G>C (p.Glu131Gln) | |
15 | g.26580433C>T | CA391464177 | GABRB3 | c.568G>A (p.Glu190Lys) n.611G>A c.251G>A c.313G>A (p.Glu105Lys) c.469G>A (p.Glu157Lys) c.355G>A (p.Glu119Lys) c.736G>A (p.Glu246Lys) c.*29G>A (n.*29G>A) n.480G>A c.*400G>A (n.*400G>A) n.239G>A c.391G>A (p.Glu131Lys) | |
15 | g.26580434A= | CA2165760544 | GABRB3 | c.567T= (p.Ile189=) n.610T= c.250T= c.312T= (p.Ile104=) c.468T= (p.Ile156=) c.354T= (p.Ile118=) c.735T= (p.Ile245=) c.*28T= (n.*28T=) n.479T= c.*399T= (n.*399T=) n.238T= c.390T= (p.Ile130=) | |
15 | g.26580434A>C | CA391464181 | GABRB3 | c.567T>G (p.Ile189Met) n.610T>G c.250T>G c.312T>G (p.Ile104Met) c.468T>G (p.Ile156Met) c.354T>G (p.Ile118Met) c.735T>G (p.Ile245Met) c.*28T>G (n.*28T>G) n.479T>G c.*399T>G (n.*399T>G) n.238T>G c.390T>G (p.Ile130Met) | gnomAD v4 |
15 | g.26580434A>G | CA489071769 | GABRB3 | c.567T>C (p.Ile189=) n.610T>C c.250T>C c.312T>C (p.Ile104=) c.468T>C (p.Ile156=) c.354T>C (p.Ile118=) c.735T>C (p.Ile245=) c.*28T>C (n.*28T>C) n.479T>C c.*399T>C (n.*399T>C) n.238T>C c.390T>C (p.Ile130=) | gnomAD v4 |
15 | g.26580434A>T | CA268156811 | GABRB3 | c.567T>A (p.Ile189=) n.610T>A c.250T>A c.312T>A (p.Ile104=) c.468T>A (p.Ile156=) c.354T>A (p.Ile118=) c.735T>A (p.Ile245=) c.*28T>A (n.*28T>A) n.479T>A c.*399T>A (n.*399T>A) n.238T>A c.390T>A (p.Ile130=) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.26580435A>C | CA391464182 | GABRB3 | c.566T>G (p.Ile189Ser) n.609T>G c.249T>G c.311T>G (p.Ile104Ser) c.467T>G (p.Ile156Ser) c.353T>G (p.Ile118Ser) c.734T>G (p.Ile245Ser) c.*27T>G (n.*27T>G) n.478T>G c.*398T>G (n.*398T>G) n.237T>G c.389T>G (p.Ile130Ser) | |
15 | g.26580435A>G | CA391464183 | GABRB3 | c.566T>C (p.Ile189Thr) n.609T>C c.249T>C c.311T>C (p.Ile104Thr) c.467T>C (p.Ile156Thr) c.353T>C (p.Ile118Thr) c.734T>C (p.Ile245Thr) c.*27T>C (n.*27T>C) n.478T>C c.*398T>C (n.*398T>C) n.237T>C c.389T>C (p.Ile130Thr) | ClinVar gnomAD v4 |
15 | g.26580435A>T | CA391464185 | GABRB3 | c.566T>A (p.Ile189Asn) n.609T>A c.249T>A c.311T>A (p.Ile104Asn) c.467T>A (p.Ile156Asn) c.353T>A (p.Ile118Asn) c.734T>A (p.Ile245Asn) c.*27T>A (n.*27T>A) n.478T>A c.*398T>A (n.*398T>A) n.237T>A c.389T>A (p.Ile130Asn) | |
15 | g.26580436T>A | CA391464189 | GABRB3 | c.565A>T (p.Ile189Phe) n.608A>T c.248A>T c.310A>T (p.Ile104Phe) c.466A>T (p.Ile156Phe) c.352A>T (p.Ile118Phe) c.733A>T (p.Ile245Phe) c.*26A>T (n.*26A>T) n.477A>T c.*397A>T (n.*397A>T) n.236A>T c.388A>T (p.Ile130Phe) | |
15 | g.26580436T>C | CA391464186 | GABRB3 | c.565A>G (p.Ile189Val) n.608A>G c.248A>G c.310A>G (p.Ile104Val) c.466A>G (p.Ile156Val) c.352A>G (p.Ile118Val) c.733A>G (p.Ile245Val) c.*26A>G (n.*26A>G) n.477A>G c.*397A>G (n.*397A>G) n.236A>G c.388A>G (p.Ile130Val) | |
15 | g.26580436T>G | CA391464188 | GABRB3 | c.565A>C (p.Ile189Leu) n.608A>C c.248A>C c.310A>C (p.Ile104Leu) c.466A>C (p.Ile156Leu) c.352A>C (p.Ile118Leu) c.733A>C (p.Ile245Leu) c.*26A>C (n.*26A>C) n.477A>C c.*397A>C (n.*397A>C) n.236A>C c.388A>C (p.Ile130Leu) | |
15 | g.26580437G>A | CA489071770 | GABRB3 | c.564C>T (p.Asp188=) n.607C>T c.247C>T c.309C>T (p.Asp103=) c.465C>T (p.Asp155=) c.351C>T (p.Asp117=) c.732C>T (p.Asp244=) c.*25C>T (n.*25C>T) n.476C>T c.*396C>T (n.*396C>T) n.235C>T c.387C>T (p.Asp129=) | gnomAD v4 |
15 | g.26580437G>C | CA391464191 | GABRB3 | c.564C>G (p.Asp188Glu) n.607C>G c.247C>G c.309C>G (p.Asp103Glu) c.465C>G (p.Asp155Glu) c.351C>G (p.Asp117Glu) c.732C>G (p.Asp244Glu) c.*25C>G (n.*25C>G) n.476C>G c.*396C>G (n.*396C>G) n.235C>G c.387C>G (p.Asp129Glu) | |
15 | g.26580437G>T | CA391464194 | GABRB3 | c.564C>A (p.Asp188Glu) n.607C>A c.247C>A c.309C>A (p.Asp103Glu) c.465C>A (p.Asp155Glu) c.351C>A (p.Asp117Glu) c.732C>A (p.Asp244Glu) c.*25C>A (n.*25C>A) n.476C>A c.*396C>A (n.*396C>A) n.235C>A c.387C>A (p.Asp129Glu) | |
15 | g.26580438T>A | CA391464195 | GABRB3 | c.563A>T (p.Asp188Val) n.606A>T c.246A>T c.308A>T (p.Asp103Val) c.464A>T (p.Asp155Val) c.350A>T (p.Asp117Val) c.731A>T (p.Asp244Val) c.*24A>T (n.*24A>T) n.475A>T c.*395A>T (n.*395A>T) n.234A>T c.386A>T (p.Asp129Val) | ClinVar |
15 | g.26580438T>C | CA391464196 | GABRB3 | c.563A>G (p.Asp188Gly) n.606A>G c.246A>G c.308A>G (p.Asp103Gly) c.464A>G (p.Asp155Gly) c.350A>G (p.Asp117Gly) c.731A>G (p.Asp244Gly) c.*24A>G (n.*24A>G) n.475A>G c.*395A>G (n.*395A>G) n.234A>G c.386A>G (p.Asp129Gly) | |
15 | g.26580438T>G | CA391464198 | GABRB3 | c.563A>C (p.Asp188Ala) n.606A>C c.246A>C c.308A>C (p.Asp103Ala) c.464A>C (p.Asp155Ala) c.350A>C (p.Asp117Ala) c.731A>C (p.Asp244Ala) c.*24A>C (n.*24A>C) n.475A>C c.*395A>C (n.*395A>C) n.234A>C c.386A>C (p.Asp129Ala) | |
15 | g.26580439C>A | CA391464202 | GABRB3 | c.562G>T (p.Asp188Tyr) n.605G>T c.245G>T c.307G>T (p.Asp103Tyr) c.463G>T (p.Asp155Tyr) c.349G>T (p.Asp117Tyr) c.730G>T (p.Asp244Tyr) c.*23G>T (n.*23G>T) n.474G>T c.*394G>T (n.*394G>T) n.233G>T c.385G>T (p.Asp129Tyr) | |
15 | g.26580439C>G | CA391464200 | GABRB3 | c.562G>C (p.Asp188His) n.605G>C c.245G>C c.307G>C (p.Asp103His) c.463G>C (p.Asp155His) c.349G>C (p.Asp117His) c.730G>C (p.Asp244His) c.*23G>C (n.*23G>C) n.474G>C c.*394G>C (n.*394G>C) n.233G>C c.385G>C (p.Asp129His) | |
15 | g.26580439C>T | CA391464199 | GABRB3 | c.562G>A (p.Asp188Asn) n.605G>A c.245G>A c.307G>A (p.Asp103Asn) c.463G>A (p.Asp155Asn) c.349G>A (p.Asp117Asn) c.730G>A (p.Asp244Asn) c.*23G>A (n.*23G>A) n.474G>A c.*394G>A (n.*394G>A) n.233G>A c.385G>A (p.Asp129Asn) | COSMIC COSMIC COSMIC |
15 | g.26580440A>C | CA391464204 | GABRB3 | c.561T>G (p.Asp187Glu) n.604T>G c.244T>G c.306T>G (p.Asp102Glu) c.462T>G (p.Asp154Glu) c.348T>G (p.Asp116Glu) c.729T>G (p.Asp243Glu) c.*22T>G (n.*22T>G) n.473T>G c.*393T>G (n.*393T>G) n.232T>G c.384T>G (p.Asp128Glu) | |
15 | g.26580440A>G | CA489071771 | GABRB3 | c.561T>C (p.Asp187=) n.604T>C c.244T>C c.306T>C (p.Asp102=) c.462T>C (p.Asp154=) c.348T>C (p.Asp116=) c.729T>C (p.Asp243=) c.*22T>C (n.*22T>C) n.473T>C c.*393T>C (n.*393T>C) n.232T>C c.384T>C (p.Asp128=) | |
15 | g.26580440A>T | CA391464205 | GABRB3 | c.561T>A (p.Asp187Glu) n.604T>A c.244T>A c.306T>A (p.Asp102Glu) c.462T>A (p.Asp154Glu) c.348T>A (p.Asp116Glu) c.729T>A (p.Asp243Glu) c.*22T>A (n.*22T>A) n.473T>A c.*393T>A (n.*393T>A) n.232T>A c.384T>A (p.Asp128Glu) | |
15 | g.26580441T>A | CA391464207 | GABRB3 | c.560A>T (p.Asp187Val) n.603A>T c.243A>T c.305A>T (p.Asp102Val) c.461A>T (p.Asp154Val) c.347A>T (p.Asp116Val) c.728A>T (p.Asp243Val) c.*21A>T (n.*21A>T) n.472A>T c.*392A>T (n.*392A>T) n.231A>T c.383A>T (p.Asp128Val) | |
15 | g.26580441T>C | CA391464208 | GABRB3 | c.560A>G (p.Asp187Gly) n.603A>G c.243A>G c.305A>G (p.Asp102Gly) c.461A>G (p.Asp154Gly) c.347A>G (p.Asp116Gly) c.728A>G (p.Asp243Gly) c.*21A>G (n.*21A>G) n.472A>G c.*392A>G (n.*392A>G) n.231A>G c.383A>G (p.Asp128Gly) | |
15 | g.26580441T>G | CA391464210 | GABRB3 | c.560A>C (p.Asp187Ala) n.603A>C c.243A>C c.305A>C (p.Asp102Ala) c.461A>C (p.Asp154Ala) c.347A>C (p.Asp116Ala) c.728A>C (p.Asp243Ala) c.*21A>C (n.*21A>C) n.472A>C c.*392A>C (n.*392A>C) n.231A>C c.383A>C (p.Asp128Ala) | |
15 | g.26580442C>A | CA391464212 | GABRB3 | c.559G>T (p.Asp187Tyr) n.602G>T c.242G>T c.304G>T (p.Asp102Tyr) c.460G>T (p.Asp154Tyr) c.346G>T (p.Asp116Tyr) c.727G>T (p.Asp243Tyr) c.*20G>T (n.*20G>T) n.471G>T c.*391G>T (n.*391G>T) n.230G>T c.382G>T (p.Asp128Tyr) | COSMIC COSMIC COSMIC |
15 | g.26580442C>G | CA391464213 | GABRB3 | c.559G>C (p.Asp187His) n.602G>C c.242G>C c.304G>C (p.Asp102His) c.460G>C (p.Asp154His) c.346G>C (p.Asp116His) c.727G>C (p.Asp243His) c.*20G>C (n.*20G>C) n.471G>C c.*391G>C (n.*391G>C) n.230G>C c.382G>C (p.Asp128His) | |
15 | g.26580442C>T | CA391464215 | GABRB3 | c.559G>A (p.Asp187Asn) n.602G>A c.242G>A c.304G>A (p.Asp102Asn) c.460G>A (p.Asp154Asn) c.346G>A (p.Asp116Asn) c.727G>A (p.Asp243Asn) c.*20G>A (n.*20G>A) n.471G>A c.*391G>A (n.*391G>A) n.230G>A c.382G>A (p.Asp128Asn) | COSMIC COSMIC COSMIC |
15 | g.26580443C>A | CA489071772 | GABRB3 | c.558G>T (p.Thr186=) n.601G>T c.241G>T c.303G>T (p.Thr101=) c.459G>T (p.Thr153=) c.345G>T (p.Thr115=) c.726G>T (p.Thr242=) c.*19G>T (n.*19G>T) n.470G>T c.*390G>T (n.*390G>T) n.229G>T c.381G>T (p.Thr127=) | |
15 | g.26580443C= | CA2165760545 | GABRB3 | c.558G= (p.Thr186=) n.601G= c.241G= c.303G= (p.Thr101=) c.459G= (p.Thr153=) c.345G= (p.Thr115=) c.726G= (p.Thr242=) c.*19G= (n.*19G=) n.470G= c.*390G= (n.*390G=) n.229G= c.381G= (p.Thr127=) | |
15 | g.26580443C>G | CA489071773 | GABRB3 | c.558G>C (p.Thr186=) n.601G>C c.241G>C c.303G>C (p.Thr101=) c.459G>C (p.Thr153=) c.345G>C (p.Thr115=) c.726G>C (p.Thr242=) c.*19G>C (n.*19G>C) n.470G>C c.*390G>C (n.*390G>C) n.229G>C c.381G>C (p.Thr127=) | gnomAD v4 |
15 | g.26580443C>T | CA7437405 | GABRB3 | c.558G>A (p.Thr186=) n.601G>A c.241G>A c.303G>A (p.Thr101=) c.459G>A (p.Thr153=) c.345G>A (p.Thr115=) c.726G>A (p.Thr242=) c.*19G>A (n.*19G>A) n.470G>A c.*390G>A (n.*390G>A) n.229G>A c.381G>A (p.Thr127=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.26580444G>A | CA7437406 | GABRB3 | c.557C>T (p.Thr186Met) n.600C>T c.240C>T c.302C>T (p.Thr101Met) c.458C>T (p.Thr153Met) c.344C>T (p.Thr115Met) c.725C>T (p.Thr242Met) c.*18C>T (n.*18C>T) n.469C>T c.*389C>T (n.*389C>T) n.228C>T c.380C>T (p.Thr127Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.26580444G>C | CA391464217 | GABRB3 | c.557C>G (p.Thr186Arg) n.600C>G c.240C>G c.302C>G (p.Thr101Arg) c.458C>G (p.Thr153Arg) c.344C>G (p.Thr115Arg) c.725C>G (p.Thr242Arg) c.*18C>G (n.*18C>G) n.469C>G c.*389C>G (n.*389C>G) n.228C>G c.380C>G (p.Thr127Arg) | |
15 | g.26580444G= | CA2165760546 | GABRB3 | c.557C= (p.Thr186=) n.600C= c.240C= c.302C= (p.Thr101=) c.458C= (p.Thr153=) c.344C= (p.Thr115=) c.725C= (p.Thr242=) c.*18C= (n.*18C=) n.469C= c.*389C= (n.*389C=) n.228C= c.380C= (p.Thr127=) | |
15 | g.26580444G>T | CA391464218 | GABRB3 | c.557C>A (p.Thr186Lys) n.600C>A c.240C>A c.302C>A (p.Thr101Lys) c.458C>A (p.Thr153Lys) c.344C>A (p.Thr115Lys) c.725C>A (p.Thr242Lys) c.*18C>A (n.*18C>A) n.469C>A c.*389C>A (n.*389C>A) n.228C>A c.380C>A (p.Thr127Lys) | |
15 | g.26580445T>A | CA391464221 | GABRB3 | c.556A>T (p.Thr186Ser) n.599A>T c.239A>T c.301A>T (p.Thr101Ser) c.457A>T (p.Thr153Ser) c.343A>T (p.Thr115Ser) c.724A>T (p.Thr242Ser) c.*17A>T (n.*17A>T) n.468A>T c.*388A>T (n.*388A>T) n.227A>T c.379A>T (p.Thr127Ser) | |
15 | g.26580445T>C | CA391464223 | GABRB3 | c.556A>G (p.Thr186Ala) n.599A>G c.239A>G c.301A>G (p.Thr101Ala) c.457A>G (p.Thr153Ala) c.343A>G (p.Thr115Ala) c.724A>G (p.Thr242Ala) c.*17A>G (n.*17A>G) n.468A>G c.*388A>G (n.*388A>G) n.227A>G c.379A>G (p.Thr127Ala) | |
15 | g.26580445T>G | CA391464220 | GABRB3 | c.556A>C (p.Thr186Pro) n.599A>C c.239A>C c.301A>C (p.Thr101Pro) c.457A>C (p.Thr153Pro) c.343A>C (p.Thr115Pro) c.724A>C (p.Thr242Pro) c.*17A>C (n.*17A>C) n.468A>C c.*388A>C (n.*388A>C) n.227A>C c.379A>C (p.Thr127Pro) | |
15 | g.26580446G>A | CA489071774 | GABRB3 | c.555C>T (p.Thr185=) n.598C>T c.238C>T c.300C>T (p.Thr100=) c.456C>T (p.Thr152=) c.342C>T (p.Thr114=) c.723C>T (p.Thr241=) c.*16C>T (n.*16C>T) n.467C>T c.*387C>T (n.*387C>T) n.226C>T c.378C>T (p.Thr126=) | |
15 | g.26580446G>C | CA489071775 | GABRB3 | c.555C>G (p.Thr185=) n.598C>G c.238C>G c.300C>G (p.Thr100=) c.456C>G (p.Thr152=) c.342C>G (p.Thr114=) c.723C>G (p.Thr241=) c.*16C>G (n.*16C>G) n.467C>G c.*387C>G (n.*387C>G) n.226C>G c.378C>G (p.Thr126=) | |
15 | g.26580446G>T | CA489071776 | GABRB3 | c.555C>A (p.Thr185=) n.598C>A c.238C>A c.300C>A (p.Thr100=) c.456C>A (p.Thr152=) c.342C>A (p.Thr114=) c.723C>A (p.Thr241=) c.*16C>A (n.*16C>A) n.467C>A c.*387C>A (n.*387C>A) n.226C>A c.378C>A (p.Thr126=) | COSMIC COSMIC COSMIC |
15 | g.26580447G>A | CA391464224 | GABRB3 | c.554C>T (p.Thr185Ile) n.597C>T c.237C>T c.299C>T (p.Thr100Ile) c.455C>T (p.Thr152Ile) c.341C>T (p.Thr114Ile) c.722C>T (p.Thr241Ile) c.*15C>T (n.*15C>T) n.466C>T c.*386C>T (n.*386C>T) n.225C>T c.377C>T (p.Thr126Ile) | ClinVar dbSNP |
15 | g.26580447G>C | CA391464226 | GABRB3 | c.554C>G (p.Thr185Ser) n.597C>G c.237C>G c.299C>G (p.Thr100Ser) c.455C>G (p.Thr152Ser) c.341C>G (p.Thr114Ser) c.722C>G (p.Thr241Ser) c.*15C>G (n.*15C>G) n.466C>G c.*386C>G (n.*386C>G) n.225C>G c.377C>G (p.Thr126Ser) | COSMIC COSMIC COSMIC |
15 | g.26580447G= | CA2165760547 | GABRB3 | c.554C= (p.Thr185=) n.597C= c.237C= c.299C= (p.Thr100=) c.455C= (p.Thr152=) c.341C= (p.Thr114=) c.722C= (p.Thr241=) c.*15C= (n.*15C=) n.466C= c.*386C= (n.*386C=) n.225C= c.377C= (p.Thr126=) | |
15 | g.26580447G>T | CA391464227 | GABRB3 | c.554C>A (p.Thr185Asn) n.597C>A c.237C>A c.299C>A (p.Thr100Asn) c.455C>A (p.Thr152Asn) c.341C>A (p.Thr114Asn) c.722C>A (p.Thr241Asn) c.*15C>A (n.*15C>A) n.466C>A c.*386C>A (n.*386C>A) n.225C>A c.377C>A (p.Thr126Asn) | |
15 | g.26580448T>A | CA391464229 | GABRB3 | c.553A>T (p.Thr185Ser) n.596A>T c.236A>T c.298A>T (p.Thr100Ser) c.454A>T (p.Thr152Ser) c.340A>T (p.Thr114Ser) c.721A>T (p.Thr241Ser) c.*14A>T (n.*14A>T) n.465A>T c.*385A>T (n.*385A>T) n.224A>T c.376A>T (p.Thr126Ser) | |
15 | g.26580448T>C | CA391464230 | GABRB3 | c.553A>G (p.Thr185Ala) n.596A>G c.236A>G c.298A>G (p.Thr100Ala) c.454A>G (p.Thr152Ala) c.340A>G (p.Thr114Ala) c.721A>G (p.Thr241Ala) c.*14A>G (n.*14A>G) n.465A>G c.*385A>G (n.*385A>G) n.224A>G c.376A>G (p.Thr126Ala) | |
15 | g.26580448T>G | CA391464231 | GABRB3 | c.553A>C (p.Thr185Pro) n.596A>C c.236A>C c.298A>C (p.Thr100Pro) c.454A>C (p.Thr152Pro) c.340A>C (p.Thr114Pro) c.721A>C (p.Thr241Pro) c.*14A>C (n.*14A>C) n.465A>C c.*385A>C (n.*385A>C) n.224A>C c.376A>C (p.Thr126Pro) | ClinVar dbSNP |
15 | g.26580448T= | CA2165760548 | GABRB3 | c.553A= (p.Thr185=) n.596A= c.236A= c.298A= (p.Thr100=) c.454A= (p.Thr152=) c.340A= (p.Thr114=) c.721A= (p.Thr241=) c.*14A= (n.*14A=) n.465A= c.*385A= (n.*385A=) n.224A= c.376A= (p.Thr126=) | |
15 | g.26580449G>A | CA489071777 | GABRB3 | c.552C>T (p.Tyr184=) n.595C>T c.235C>T c.297C>T (p.Tyr99=) c.453C>T (p.Tyr151=) c.339C>T (p.Tyr113=) c.720C>T (p.Tyr240=) c.*13C>T (n.*13C>T) n.464C>T c.*384C>T (n.*384C>T) n.223C>T c.375C>T (p.Tyr125=) | gnomAD v4 |
15 | g.26580449G>C | CA391464233 | GABRB3 | c.552C>G (p.Tyr184Ter) n.595C>G c.235C>G c.297C>G (p.Tyr99Ter) c.453C>G (p.Tyr151Ter) c.339C>G (p.Tyr113Ter) c.720C>G (p.Tyr240Ter) c.*13C>G (n.*13C>G) n.464C>G c.*384C>G (n.*384C>G) n.223C>G c.375C>G (p.Tyr125Ter) | |
15 | g.26580449G>T | CA391464234 | GABRB3 | c.552C>A (p.Tyr184Ter) n.595C>A c.235C>A c.297C>A (p.Tyr99Ter) c.453C>A (p.Tyr151Ter) c.339C>A (p.Tyr113Ter) c.720C>A (p.Tyr240Ter) c.*13C>A (n.*13C>A) n.464C>A c.*384C>A (n.*384C>A) n.223C>A c.375C>A (p.Tyr125Ter) | |
15 | g.26580450T>A | CA391464236 | GABRB3 | c.551A>T (p.Tyr184Phe) n.594A>T c.234A>T c.296A>T (p.Tyr99Phe) c.452A>T (p.Tyr151Phe) c.338A>T (p.Tyr113Phe) c.719A>T (p.Tyr240Phe) c.*12A>T (n.*12A>T) n.463A>T c.*383A>T (n.*383A>T) n.222A>T c.374A>T (p.Tyr125Phe) | |
15 | g.26580450T>C | CA391464237 | GABRB3 | c.551A>G (p.Tyr184Cys) n.594A>G c.234A>G c.296A>G (p.Tyr99Cys) c.452A>G (p.Tyr151Cys) c.338A>G (p.Tyr113Cys) c.719A>G (p.Tyr240Cys) c.*12A>G (n.*12A>G) n.463A>G c.*383A>G (n.*383A>G) n.222A>G c.374A>G (p.Tyr125Cys) | ClinVar |
15 | g.26580450T>G | CA391464239 | GABRB3 | c.551A>C (p.Tyr184Ser) n.594A>C c.234A>C c.296A>C (p.Tyr99Ser) c.452A>C (p.Tyr151Ser) c.338A>C (p.Tyr113Ser) c.719A>C (p.Tyr240Ser) c.*12A>C (n.*12A>C) n.463A>C c.*383A>C (n.*383A>C) n.222A>C c.374A>C (p.Tyr125Ser) | |
15 | g.26580451A>C | CA391464241 | GABRB3 | c.550T>G (p.Tyr184Asp) n.593T>G c.233T>G c.295T>G (p.Tyr99Asp) c.451T>G (p.Tyr151Asp) c.337T>G (p.Tyr113Asp) c.718T>G (p.Tyr240Asp) c.*11T>G (n.*11T>G) n.462T>G c.*382T>G (n.*382T>G) n.221T>G c.373T>G (p.Tyr125Asp) | |
15 | g.26580451A>G | CA391464242 | GABRB3 | c.550T>C (p.Tyr184His) n.593T>C c.233T>C c.295T>C (p.Tyr99His) c.451T>C (p.Tyr151His) c.337T>C (p.Tyr113His) c.718T>C (p.Tyr240His) c.*11T>C (n.*11T>C) n.462T>C c.*382T>C (n.*382T>C) n.221T>C c.373T>C (p.Tyr125His) | |
15 | g.26580451A>T | CA391464245 | GABRB3 | c.550T>A (p.Tyr184Asn) n.593T>A c.233T>A c.295T>A (p.Tyr99Asn) c.451T>A (p.Tyr151Asn) c.337T>A (p.Tyr113Asn) c.718T>A (p.Tyr240Asn) c.*11T>A (n.*11T>A) n.462T>A c.*382T>A (n.*382T>A) n.221T>A c.373T>A (p.Tyr125Asn) | |
15 | g.26580452G>A | CA7437407 | GABRB3 | c.549C>T (p.Gly183=) n.592C>T c.232C>T c.294C>T (p.Gly98=) c.450C>T (p.Gly150=) c.336C>T (p.Gly112=) c.717C>T (p.Gly239=) c.*10C>T (n.*10C>T) n.461C>T c.*381C>T (n.*381C>T) n.220C>T c.372C>T (p.Gly124=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.26580452G>C | CA489071779 | GABRB3 | c.549C>G (p.Gly183=) n.592C>G c.232C>G c.294C>G (p.Gly98=) c.450C>G (p.Gly150=) c.336C>G (p.Gly112=) c.717C>G (p.Gly239=) c.*10C>G (n.*10C>G) n.461C>G c.*381C>G (n.*381C>G) n.220C>G c.372C>G (p.Gly124=) | |
15 | g.26580452G= | CA2165760549 | GABRB3 | c.549C= (p.Gly183=) n.592C= c.232C= c.294C= (p.Gly98=) c.450C= (p.Gly150=) c.336C= (p.Gly112=) c.717C= (p.Gly239=) c.*10C= (n.*10C=) n.461C= c.*381C= (n.*381C=) n.220C= c.372C= (p.Gly124=) | |
15 | g.26580452G>T | CA489071778 | GABRB3 | c.549C>A (p.Gly183=) n.592C>A c.232C>A c.294C>A (p.Gly98=) c.450C>A (p.Gly150=) c.336C>A (p.Gly112=) c.717C>A (p.Gly239=) c.*10C>A (n.*10C>A) n.461C>A c.*381C>A (n.*381C>A) n.220C>A c.372C>A (p.Gly124=) | |
15 | g.26580453C>A | CA391464249 | GABRB3 | c.548G>T (p.Gly183Val) n.591G>T c.231G>T c.293G>T (p.Gly98Val) c.449G>T (p.Gly150Val) c.335G>T (p.Gly112Val) c.716G>T (p.Gly239Val) c.*9G>T (n.*9G>T) n.460G>T c.*380G>T (n.*380G>T) n.219G>T c.371G>T (p.Gly124Val) | |
15 | g.26580453C>G | CA391464247 | GABRB3 | c.548G>C (p.Gly183Ala) n.591G>C c.231G>C c.293G>C (p.Gly98Ala) c.449G>C (p.Gly150Ala) c.335G>C (p.Gly112Ala) c.716G>C (p.Gly239Ala) c.*9G>C (n.*9G>C) n.460G>C c.*380G>C (n.*380G>C) n.219G>C c.371G>C (p.Gly124Ala) | |
15 | g.26580453C>T | CA391464250 | GABRB3 | c.548G>A (p.Gly183Asp) n.591G>A c.231G>A c.293G>A (p.Gly98Asp) c.449G>A (p.Gly150Asp) c.335G>A (p.Gly112Asp) c.716G>A (p.Gly239Asp) c.*9G>A (n.*9G>A) n.460G>A c.*380G>A (n.*380G>A) n.219G>A c.371G>A (p.Gly124Asp) | COSMIC COSMIC COSMIC |
15 | g.26580454C>A | CA391464251 | GABRB3 | c.547G>T (p.Gly183Cys) n.590G>T c.230G>T c.292G>T (p.Gly98Cys) c.448G>T (p.Gly150Cys) c.334G>T (p.Gly112Cys) c.715G>T (p.Gly239Cys) c.*8G>T (n.*8G>T) n.459G>T c.*379G>T (n.*379G>T) n.218G>T c.370G>T (p.Gly124Cys) | |
15 | g.26580454C>G | CA391464254 | GABRB3 | c.547G>C (p.Gly183Arg) n.590G>C c.230G>C c.292G>C (p.Gly98Arg) c.448G>C (p.Gly150Arg) c.334G>C (p.Gly112Arg) c.715G>C (p.Gly239Arg) c.*8G>C (n.*8G>C) n.459G>C c.*379G>C (n.*379G>C) n.218G>C c.370G>C (p.Gly124Arg) | |
15 | g.26580454C>T | CA391464252 | GABRB3 | c.547G>A (p.Gly183Ser) n.590G>A c.230G>A c.292G>A (p.Gly98Ser) c.448G>A (p.Gly150Ser) c.334G>A (p.Gly112Ser) c.715G>A (p.Gly239Ser) c.*8G>A (n.*8G>A) n.459G>A c.*379G>A (n.*379G>A) n.218G>A c.370G>A (p.Gly124Ser) | |
15 | g.26580455A>C | CA391464255 | GABRB3 | c.546T>G (p.Tyr182Ter) n.589T>G c.229T>G c.291T>G (p.Tyr97Ter) c.447T>G (p.Tyr149Ter) c.333T>G (p.Tyr111Ter) c.714T>G (p.Tyr238Ter) c.*7T>G (n.*7T>G) n.458T>G c.*378T>G (n.*378T>G) n.217T>G c.369T>G (p.Tyr123Ter) | |
15 | g.26580455A>G | CA489071780 | GABRB3 | c.546T>C (p.Tyr182=) n.589T>C c.229T>C c.291T>C (p.Tyr97=) c.447T>C (p.Tyr149=) c.333T>C (p.Tyr111=) c.714T>C (p.Tyr238=) c.*7T>C (n.*7T>C) n.458T>C c.*378T>C (n.*378T>C) n.217T>C c.369T>C (p.Tyr123=) | gnomAD v4 |
15 | g.26580455A>T | CA391464256 | GABRB3 | c.546T>A (p.Tyr182Ter) n.589T>A c.229T>A c.291T>A (p.Tyr97Ter) c.447T>A (p.Tyr149Ter) c.333T>A (p.Tyr111Ter) c.714T>A (p.Tyr238Ter) c.*7T>A (n.*7T>A) n.458T>A c.*378T>A (n.*378T>A) n.217T>A c.369T>A (p.Tyr123Ter) | |
15 | g.26580456T>A | CA10586388 | GABRB3 | c.545A>T (p.Tyr182Phe) n.588A>T c.228A>T c.290A>T (p.Tyr97Phe) c.446A>T (p.Tyr149Phe) c.332A>T (p.Tyr111Phe) c.713A>T (p.Tyr238Phe) c.*6A>T (n.*6A>T) n.457A>T c.*377A>T (n.*377A>T) n.216A>T c.368A>T (p.Tyr123Phe) | ClinVar dbSNP |
15 | g.26580456T>C | CA391464259 | GABRB3 | c.545A>G (p.Tyr182Cys) n.588A>G c.228A>G c.290A>G (p.Tyr97Cys) c.446A>G (p.Tyr149Cys) c.332A>G (p.Tyr111Cys) c.713A>G (p.Tyr238Cys) c.*6A>G (n.*6A>G) n.457A>G c.*377A>G (n.*377A>G) n.216A>G c.368A>G (p.Tyr123Cys) | ClinVar dbSNP |
15 | g.26580456T>G | CA391464260 | GABRB3 | c.545A>C (p.Tyr182Ser) n.588A>C c.228A>C c.290A>C (p.Tyr97Ser) c.446A>C (p.Tyr149Ser) c.332A>C (p.Tyr111Ser) c.713A>C (p.Tyr238Ser) c.*6A>C (n.*6A>C) n.457A>C c.*377A>C (n.*377A>C) n.216A>C c.368A>C (p.Tyr123Ser) | |
15 | g.26580456T= | CA2165760550 | GABRB3 | c.545A= (p.Tyr182=) n.588A= c.228A= c.290A= (p.Tyr97=) c.446A= (p.Tyr149=) c.332A= (p.Tyr111=) c.713A= (p.Tyr238=) c.*6A= (n.*6A=) n.457A= c.*377A= (n.*377A=) n.216A= c.368A= (p.Tyr123=) | |
15 | g.26580457C>A | CA391464261 | GABRB3 | c.545-1G>T (n.545-1G>T) n.588-1G>T c.228-1G>T c.290-1G>T (n.290-1G>T) c.446-1G>T (n.446-1G>T) c.332-1G>T (n.332-1G>T) c.713-1G>T (n.713-1G>T) c.*6-1G>T (n.*6-1G>T) n.457-1G>T c.*377-1G>T (n.*377-1G>T) n.215G>T c.368-1G>T (n.368-1G>T) | |
15 | g.26580457C>G | CA391464262 | GABRB3 | c.545-1G>C (n.545-1G>C) n.588-1G>C c.228-1G>C c.290-1G>C (n.290-1G>C) c.446-1G>C (n.446-1G>C) c.332-1G>C (n.332-1G>C) c.713-1G>C (n.713-1G>C) c.*6-1G>C (n.*6-1G>C) n.457-1G>C c.*377-1G>C (n.*377-1G>C) n.215G>C c.368-1G>C (n.368-1G>C) | |
15 | g.26580457C>T | CA391464263 | GABRB3 | c.545-1G>A (n.545-1G>A) n.588-1G>A c.228-1G>A c.290-1G>A (n.290-1G>A) c.446-1G>A (n.446-1G>A) c.332-1G>A (n.332-1G>A) c.713-1G>A (n.713-1G>A) c.*6-1G>A (n.*6-1G>A) n.457-1G>A c.*377-1G>A (n.*377-1G>A) n.215G>A c.368-1G>A (n.368-1G>A) | COSMIC COSMIC COSMIC |