Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.162149210_162149213delCA2695205686GABRG2c.1026_1029del
c.1145_1148del (p.Cys382SerfsTer?)
c.1108_1111del
n.279_282del
c.740_743del (p.Cys247SerfsTer?)
c.1025_1028del (p.Cys342SerfsTer?)
c.902_905del
c.416_419del (p.Cys139SerfsTer?)
c.953_956del (p.Cys318SerfsTer?)
c.*225_*228del (n.*225_*228del)
c.959_962del (p.Cys320SerfsTer?)
n.323_326del
n.3556_3559del
c.463_466del
c.938_941del (p.Cys313SerfsTer?)
c.*627_*630del (n.*627_*630del)
c.1146_1149del (n.1146_1149del)
c.1016_1019del (p.Cys339SerfsTer?)
c.923-2520_923-2517del (n.923-2520_923-2517del)
c.1022_1025del (p.Cys341SerfsTer?)
c.1064_1067del (p.Cys355SerfsTer?)
c.605_608del (p.Cys202SerfsTer?)
5g.162149212T>ACA362182515GABRG2c.1028T>A
c.1147T>A (p.Phe383Ile)
c.1110T>A
n.281T>A
c.742T>A (p.Phe248Ile)
c.1027T>A (p.Phe343Ile)
c.904T>A
c.418T>A (p.Phe140Ile)
c.955T>A (p.Phe319Ile)
c.*227T>A (n.*227T>A)
c.961T>A (p.Phe321Ile)
n.325T>A
n.3558T>A
c.465T>A
c.940T>A (p.Phe314Ile)
c.*629T>A (n.*629T>A)
c.1148T>A (n.1148T>A)
c.1018T>A (p.Phe340Ile)
c.923-2518T>A (n.923-2518T>A)
c.1024T>A (p.Phe342Ile)
c.1066T>A (p.Phe356Ile)
c.607T>A (p.Phe203Ile)
5g.162149212T>CCA362182517GABRG2c.1028T>C
c.1147T>C (p.Phe383Leu)
c.1110T>C
n.281T>C
c.742T>C (p.Phe248Leu)
c.1027T>C (p.Phe343Leu)
c.904T>C
c.418T>C (p.Phe140Leu)
c.955T>C (p.Phe319Leu)
c.*227T>C (n.*227T>C)
c.961T>C (p.Phe321Leu)
n.325T>C
n.3558T>C
c.465T>C
c.940T>C (p.Phe314Leu)
c.*629T>C (n.*629T>C)
c.1148T>C (n.1148T>C)
c.1018T>C (p.Phe340Leu)
c.923-2518T>C (n.923-2518T>C)
c.1024T>C (p.Phe342Leu)
c.1066T>C (p.Phe356Leu)
c.607T>C (p.Phe203Leu)
 ClinVar dbSNP
5g.162149212T>GCA362182516GABRG2c.1028T>G
c.1147T>G (p.Phe383Val)
c.1110T>G
n.281T>G
c.742T>G (p.Phe248Val)
c.1027T>G (p.Phe343Val)
c.904T>G
c.418T>G (p.Phe140Val)
c.955T>G (p.Phe319Val)
c.*227T>G (n.*227T>G)
c.961T>G (p.Phe321Val)
n.325T>G
n.3558T>G
c.465T>G
c.940T>G (p.Phe314Val)
c.*629T>G (n.*629T>G)
c.1148T>G (n.1148T>G)
c.1018T>G (p.Phe340Val)
c.923-2518T>G (n.923-2518T>G)
c.1024T>G (p.Phe342Val)
c.1066T>G (p.Phe356Val)
c.607T>G (p.Phe203Val)
5g.162149212T=CA1596380267GABRG2c.1028T=
c.1147T= (p.Phe383=)
c.1110T=
n.281T=
c.742T= (p.Phe248=)
c.1027T= (p.Phe343=)
c.904T=
c.418T= (p.Phe140=)
c.955T= (p.Phe319=)
c.*227T= (n.*227T=)
c.961T= (p.Phe321=)
n.325T=
n.3558T=
c.465T=
c.940T= (p.Phe314=)
c.*629T= (n.*629T=)
c.1148T= (n.1148T=)
c.1018T= (p.Phe340=)
c.923-2518T= (n.923-2518T=)
c.1024T= (p.Phe342=)
c.1066T= (p.Phe356=)
c.607T= (p.Phe203=)
5g.162149213T>ACA362182518GABRG2c.1029T>A
c.1148T>A (p.Phe383Tyr)
c.1111T>A
n.282T>A
c.743T>A (p.Phe248Tyr)
c.1028T>A (p.Phe343Tyr)
c.905T>A
c.419T>A (p.Phe140Tyr)
c.956T>A (p.Phe319Tyr)
c.*228T>A (n.*228T>A)
c.962T>A (p.Phe321Tyr)
n.326T>A
n.3559T>A
c.466T>A
c.941T>A (p.Phe314Tyr)
c.*630T>A (n.*630T>A)
c.1149T>A (n.1149T>A)
c.1019T>A (p.Phe340Tyr)
c.923-2517T>A (n.923-2517T>A)
c.1025T>A (p.Phe342Tyr)
c.1067T>A (p.Phe356Tyr)
c.608T>A (p.Phe203Tyr)
5g.162149213T>CCA362182519GABRG2c.1029T>C
c.1148T>C (p.Phe383Ser)
c.1111T>C
n.282T>C
c.743T>C (p.Phe248Ser)
c.1028T>C (p.Phe343Ser)
c.905T>C
c.419T>C (p.Phe140Ser)
c.956T>C (p.Phe319Ser)
c.*228T>C (n.*228T>C)
c.962T>C (p.Phe321Ser)
n.326T>C
n.3559T>C
c.466T>C
c.941T>C (p.Phe314Ser)
c.*630T>C (n.*630T>C)
c.1149T>C (n.1149T>C)
c.1019T>C (p.Phe340Ser)
c.923-2517T>C (n.923-2517T>C)
c.1025T>C (p.Phe342Ser)
c.1067T>C (p.Phe356Ser)
c.608T>C (p.Phe203Ser)
5g.162149213T>GCA362182520GABRG2c.1029T>G
c.1148T>G (p.Phe383Cys)
c.1111T>G
n.282T>G
c.743T>G (p.Phe248Cys)
c.1028T>G (p.Phe343Cys)
c.905T>G
c.419T>G (p.Phe140Cys)
c.956T>G (p.Phe319Cys)
c.*228T>G (n.*228T>G)
c.962T>G (p.Phe321Cys)
n.326T>G
n.3559T>G
c.466T>G
c.941T>G (p.Phe314Cys)
c.*630T>G (n.*630T>G)
c.1149T>G (n.1149T>G)
c.1019T>G (p.Phe340Cys)
c.923-2517T>G (n.923-2517T>G)
c.1025T>G (p.Phe342Cys)
c.1067T>G (p.Phe356Cys)
c.608T>G (p.Phe203Cys)
5g.162149214C>ACA362182521GABRG2c.1030C>A
c.1149C>A (p.Phe383Leu)
c.1112C>A
n.283C>A
c.744C>A (p.Phe248Leu)
c.1029C>A (p.Phe343Leu)
c.906C>A
c.420C>A (p.Phe140Leu)
c.957C>A (p.Phe319Leu)
c.*229C>A (n.*229C>A)
c.963C>A (p.Phe321Leu)
n.327C>A
n.3560C>A
c.467C>A
c.942C>A (p.Phe314Leu)
c.*631C>A (n.*631C>A)
c.1150C>A (n.1150C>A)
c.1020C>A (p.Phe340Leu)
c.923-2516C>A (n.923-2516C>A)
c.1026C>A (p.Phe342Leu)
c.1068C>A (p.Phe356Leu)
c.609C>A (p.Phe203Leu)
 ClinVar dbSNP
5g.162149214C=CA1596380268GABRG2c.1030C=
c.1149C= (p.Phe383=)
c.1112C=
n.283C=
c.744C= (p.Phe248=)
c.1029C= (p.Phe343=)
c.906C=
c.420C= (p.Phe140=)
c.957C= (p.Phe319=)
c.*229C= (n.*229C=)
c.963C= (p.Phe321=)
n.327C=
n.3560C=
c.467C=
c.942C= (p.Phe314=)
c.*631C= (n.*631C=)
c.1150C= (n.1150C=)
c.1020C= (p.Phe340=)
c.923-2516C= (n.923-2516C=)
c.1026C= (p.Phe342=)
c.1068C= (p.Phe356=)
c.609C= (p.Phe203=)
5g.162149214C>GCA314738GABRG2c.1030C>G
c.1149C>G (p.Phe383Leu)
c.1112C>G
n.283C>G
c.744C>G (p.Phe248Leu)
c.1029C>G (p.Phe343Leu)
c.906C>G
c.420C>G (p.Phe140Leu)
c.957C>G (p.Phe319Leu)
c.*229C>G (n.*229C>G)
c.963C>G (p.Phe321Leu)
n.327C>G
n.3560C>G
c.467C>G
c.942C>G (p.Phe314Leu)
c.*631C>G (n.*631C>G)
c.1150C>G (n.1150C>G)
c.1020C>G (p.Phe340Leu)
c.923-2516C>G (n.923-2516C>G)
c.1026C>G (p.Phe342Leu)
c.1068C>G (p.Phe356Leu)
c.609C>G (p.Phe203Leu)
 ClinVar dbSNP
5g.162149214C>TCA447610293GABRG2c.1030C>T
c.1149C>T (p.Phe383=)
c.1112C>T
n.283C>T
c.744C>T (p.Phe248=)
c.1029C>T (p.Phe343=)
c.906C>T
c.420C>T (p.Phe140=)
c.957C>T (p.Phe319=)
c.*229C>T (n.*229C>T)
c.963C>T (p.Phe321=)
n.327C>T
n.3560C>T
c.467C>T
c.942C>T (p.Phe314=)
c.*631C>T (n.*631C>T)
c.1150C>T (n.1150C>T)
c.1020C>T (p.Phe340=)
c.923-2516C>T (n.923-2516C>T)
c.1026C>T (p.Phe342=)
c.1068C>T (p.Phe356=)
c.609C>T (p.Phe203=)
5g.162149215A>CCA362182522GABRG2c.1031A>C
c.1150A>C (p.Ile384Leu)
c.1113A>C
n.284A>C
c.745A>C (p.Ile249Leu)
c.1030A>C (p.Ile344Leu)
c.907A>C
c.421A>C (p.Ile141Leu)
c.958A>C (p.Ile320Leu)
c.*230A>C (n.*230A>C)
c.964A>C (p.Ile322Leu)
n.328A>C
n.3561A>C
c.468A>C
c.943A>C (p.Ile315Leu)
c.*632A>C (n.*632A>C)
c.1151A>C (n.1151A>C)
c.1021A>C (p.Ile341Leu)
c.923-2515A>C (n.923-2515A>C)
c.1027A>C (p.Ile343Leu)
c.1069A>C (p.Ile357Leu)
c.610A>C (p.Ile204Leu)
5g.162149215A>GCA362182523GABRG2c.1031A>G
c.1150A>G (p.Ile384Val)
c.1113A>G
n.284A>G
c.745A>G (p.Ile249Val)
c.1030A>G (p.Ile344Val)
c.907A>G
c.421A>G (p.Ile141Val)
c.958A>G (p.Ile320Val)
c.*230A>G (n.*230A>G)
c.964A>G (p.Ile322Val)
n.328A>G
n.3561A>G
c.468A>G
c.943A>G (p.Ile315Val)
c.*632A>G (n.*632A>G)
c.1151A>G (n.1151A>G)
c.1021A>G (p.Ile341Val)
c.923-2515A>G (n.923-2515A>G)
c.1027A>G (p.Ile343Val)
c.1069A>G (p.Ile357Val)
c.610A>G (p.Ile204Val)
5g.162149215A>TCA362182524GABRG2c.1031A>T
c.1150A>T (p.Ile384Phe)
c.1113A>T
n.284A>T
c.745A>T (p.Ile249Phe)
c.1030A>T (p.Ile344Phe)
c.907A>T
c.421A>T (p.Ile141Phe)
c.958A>T (p.Ile320Phe)
c.*230A>T (n.*230A>T)
c.964A>T (p.Ile322Phe)
n.328A>T
n.3561A>T
c.468A>T
c.943A>T (p.Ile315Phe)
c.*632A>T (n.*632A>T)
c.1151A>T (n.1151A>T)
c.1021A>T (p.Ile341Phe)
c.923-2515A>T (n.923-2515A>T)
c.1027A>T (p.Ile343Phe)
c.1069A>T (p.Ile357Phe)
c.610A>T (p.Ile204Phe)
5g.162149216T>ACA362182525GABRG2c.1032T>A
c.1151T>A (p.Ile384Asn)
c.1114T>A
n.285T>A
c.746T>A (p.Ile249Asn)
c.1031T>A (p.Ile344Asn)
c.908T>A
c.422T>A (p.Ile141Asn)
c.959T>A (p.Ile320Asn)
c.*231T>A (n.*231T>A)
c.965T>A (p.Ile322Asn)
n.329T>A
n.3562T>A
c.469T>A
c.944T>A (p.Ile315Asn)
c.*633T>A (n.*633T>A)
c.1152T>A (n.1152T>A)
c.1022T>A (p.Ile341Asn)
c.923-2514T>A (n.923-2514T>A)
c.1028T>A (p.Ile343Asn)
c.1070T>A (p.Ile357Asn)
c.611T>A (p.Ile204Asn)
5g.162149216T>CCA362182526GABRG2c.1032T>C
c.1151T>C (p.Ile384Thr)
c.1114T>C
n.285T>C
c.746T>C (p.Ile249Thr)
c.1031T>C (p.Ile344Thr)
c.908T>C
c.422T>C (p.Ile141Thr)
c.959T>C (p.Ile320Thr)
c.*231T>C (n.*231T>C)
c.965T>C (p.Ile322Thr)
n.329T>C
n.3562T>C
c.469T>C
c.944T>C (p.Ile315Thr)
c.*633T>C (n.*633T>C)
c.1152T>C (n.1152T>C)
c.1022T>C (p.Ile341Thr)
c.923-2514T>C (n.923-2514T>C)
c.1028T>C (p.Ile343Thr)
c.1070T>C (p.Ile357Thr)
c.611T>C (p.Ile204Thr)
5g.162149216T>GCA362182527GABRG2c.1032T>G
c.1151T>G (p.Ile384Ser)
c.1114T>G
n.285T>G
c.746T>G (p.Ile249Ser)
c.1031T>G (p.Ile344Ser)
c.908T>G
c.422T>G (p.Ile141Ser)
c.959T>G (p.Ile320Ser)
c.*231T>G (n.*231T>G)
c.965T>G (p.Ile322Ser)
n.329T>G
n.3562T>G
c.469T>G
c.944T>G (p.Ile315Ser)
c.*633T>G (n.*633T>G)
c.1152T>G (n.1152T>G)
c.1022T>G (p.Ile341Ser)
c.923-2514T>G (n.923-2514T>G)
c.1028T>G (p.Ile343Ser)
c.1070T>G (p.Ile357Ser)
c.611T>G (p.Ile204Ser)
5g.162149217C>ACA447610294GABRG2c.1033C>A
c.1152C>A (p.Ile384=)
c.1115C>A
n.286C>A
c.747C>A (p.Ile249=)
c.1032C>A (p.Ile344=)
c.909C>A
c.423C>A (p.Ile141=)
c.960C>A (p.Ile320=)
c.*232C>A (n.*232C>A)
c.966C>A (p.Ile322=)
n.330C>A
n.3563C>A
c.470C>A
c.945C>A (p.Ile315=)
c.*634C>A (n.*634C>A)
c.1153C>A (n.1153C>A)
c.1023C>A (p.Ile341=)
c.923-2513C>A (n.923-2513C>A)
c.1029C>A (p.Ile343=)
c.1071C>A (p.Ile357=)
c.612C>A (p.Ile204=)
5g.162149217C>GCA362182528GABRG2c.1033C>G
c.1152C>G (p.Ile384Met)
c.1115C>G
n.286C>G
c.747C>G (p.Ile249Met)
c.1032C>G (p.Ile344Met)
c.909C>G
c.423C>G (p.Ile141Met)
c.960C>G (p.Ile320Met)
c.*232C>G (n.*232C>G)
c.966C>G (p.Ile322Met)
n.330C>G
n.3563C>G
c.470C>G
c.945C>G (p.Ile315Met)
c.*634C>G (n.*634C>G)
c.1153C>G (n.1153C>G)
c.1023C>G (p.Ile341Met)
c.923-2513C>G (n.923-2513C>G)
c.1029C>G (p.Ile343Met)
c.1071C>G (p.Ile357Met)
c.612C>G (p.Ile204Met)
 COSMIC
5g.162149217C>TCA447610295GABRG2c.1033C>T
c.1152C>T (p.Ile384=)
c.1115C>T
n.286C>T
c.747C>T (p.Ile249=)
c.1032C>T (p.Ile344=)
c.909C>T
c.423C>T (p.Ile141=)
c.960C>T (p.Ile320=)
c.*232C>T (n.*232C>T)
c.966C>T (p.Ile322=)
n.330C>T
n.3563C>T
c.470C>T
c.945C>T (p.Ile315=)
c.*634C>T (n.*634C>T)
c.1153C>T (n.1153C>T)
c.1023C>T (p.Ile341=)
c.923-2513C>T (n.923-2513C>T)
c.1029C>T (p.Ile343=)
c.1071C>T (p.Ile357=)
c.612C>T (p.Ile204=)
5g.162149217_162149218delinsCTCA1596380269GABRG2c.1033_1034delinsCT
c.1152_1153delinsCT (p.Ile384=)
c.1115_1116delinsCT
n.286_287delinsCT
c.747_748delinsCT (p.Ile249=)
c.1032_1033delinsCT (p.Ile344=)
c.909_910delinsCT
c.423_424delinsCT (p.Ile141=)
c.960_961delinsCT (p.Ile320=)
c.*232_*233delinsCT (n.*232_*233delinsCT)
c.966_967delinsCT (p.Ile322=)
n.330_331delinsCT
n.3563_3564delinsCT
c.470_471delinsCT
c.945_946delinsCT (p.Ile315=)
c.*634_*635delinsCT (n.*634_*635delinsCT)
c.1153_1154delinsCT (n.1153_1154delinsCT)
c.1023_1024delinsCT (p.Ile341=)
c.923-2513_923-2512delinsCT (n.923-2513_923-2512delinsCT)
c.1029_1030delinsCT (p.Ile343=)
c.1071_1072delinsCT (p.Ile357=)
c.612_613delinsCT (p.Ile204=)
5g.162149218T>ACA362182531GABRG2c.1034T>A
c.1153T>A (p.Phe385Ile)
c.1116T>A
n.287T>A
c.748T>A (p.Phe250Ile)
c.1033T>A (p.Phe345Ile)
c.910T>A
c.424T>A (p.Phe142Ile)
c.961T>A (p.Phe321Ile)
c.*233T>A (n.*233T>A)
c.967T>A (p.Phe323Ile)
n.331T>A
n.3564T>A
c.471T>A
c.946T>A (p.Phe316Ile)
c.*635T>A (n.*635T>A)
c.1154T>A (n.1154T>A)
c.1024T>A (p.Phe342Ile)
c.923-2512T>A (n.923-2512T>A)
c.1030T>A (p.Phe344Ile)
c.1072T>A (p.Phe358Ile)
c.613T>A (p.Phe205Ile)
5g.162149218T>CCA362182529GABRG2c.1034T>C
c.1153T>C (p.Phe385Leu)
c.1116T>C
n.287T>C
c.748T>C (p.Phe250Leu)
c.1033T>C (p.Phe345Leu)
c.910T>C
c.424T>C (p.Phe142Leu)
c.961T>C (p.Phe321Leu)
c.*233T>C (n.*233T>C)
c.967T>C (p.Phe323Leu)
n.331T>C
n.3564T>C
c.471T>C
c.946T>C (p.Phe316Leu)
c.*635T>C (n.*635T>C)
c.1154T>C (n.1154T>C)
c.1024T>C (p.Phe342Leu)
c.923-2512T>C (n.923-2512T>C)
c.1030T>C (p.Phe344Leu)
c.1072T>C (p.Phe358Leu)
c.613T>C (p.Phe205Leu)
5g.162149218T>GCA362182530GABRG2c.1034T>G
c.1153T>G (p.Phe385Val)
c.1116T>G
n.287T>G
c.748T>G (p.Phe250Val)
c.1033T>G (p.Phe345Val)
c.910T>G
c.424T>G (p.Phe142Val)
c.961T>G (p.Phe321Val)
c.*233T>G (n.*233T>G)
c.967T>G (p.Phe323Val)
n.331T>G
n.3564T>G
c.471T>G
c.946T>G (p.Phe316Val)
c.*635T>G (n.*635T>G)
c.1154T>G (n.1154T>G)
c.1024T>G (p.Phe342Val)
c.923-2512T>G (n.923-2512T>G)
c.1030T>G (p.Phe344Val)
c.1072T>G (p.Phe358Val)
c.613T>G (p.Phe205Val)
5g.162149220dupCA2676329345GABRG2c.1036dup
c.1155dup (p.Val386CysfsTer26)
c.1118dup
n.289dup
c.750dup (p.Val251CysfsTer26)
c.1035dup (p.Val346CysfsTer26)
c.912dup
c.426dup (p.Val143CysfsTer26)
c.963dup (p.Val322CysfsTer26)
c.*235dup (n.*235dup)
c.969dup (p.Val324CysfsTer26)
n.333dup
n.3566dup
c.473dup
c.948dup (p.Val317CysfsTer26)
c.*637dup (n.*637dup)
c.1156dup (n.1156dup)
c.1026dup (p.Val343CysfsTer26)
c.923-2510dup (n.923-2510dup)
c.1032dup (p.Val345CysfsTer26)
c.1074dup (p.Val359CysfsTer26)
c.615dup (p.Val206CysfsTer26)
 gnomAD v4
5g.162149220delCA915942711GABRG2c.1036del
c.1155del (p.Phe385LeufsTer?)
c.1118del
n.289del
c.750del (p.Phe250LeufsTer?)
c.1035del (p.Phe345LeufsTer?)
c.912del
c.426del (p.Phe142LeufsTer?)
c.963del (p.Phe321LeufsTer?)
c.*235del (n.*235del)
c.969del (p.Phe323LeufsTer?)
n.333del
n.3566del
c.473del
c.948del (p.Phe316LeufsTer?)
c.*637del (n.*637del)
c.1156del (n.1156del)
c.1026del (p.Phe342LeufsTer?)
c.923-2510del (n.923-2510del)
c.1032del (p.Phe344LeufsTer?)
c.1074del (p.Phe358LeufsTer?)
c.615del (p.Phe205LeufsTer?)
 ClinVar dbSNP
5g.162149219T>ACA362182532GABRG2c.1035T>A
c.1154T>A (p.Phe385Tyr)
c.1117T>A
n.288T>A
c.749T>A (p.Phe250Tyr)
c.1034T>A (p.Phe345Tyr)
c.911T>A
c.425T>A (p.Phe142Tyr)
c.962T>A (p.Phe321Tyr)
c.*234T>A (n.*234T>A)
c.968T>A (p.Phe323Tyr)
n.332T>A
n.3565T>A
c.472T>A
c.947T>A (p.Phe316Tyr)
c.*636T>A (n.*636T>A)
c.1155T>A (n.1155T>A)
c.1025T>A (p.Phe342Tyr)
c.923-2511T>A (n.923-2511T>A)
c.1031T>A (p.Phe344Tyr)
c.1073T>A (p.Phe358Tyr)
c.614T>A (p.Phe205Tyr)
5g.162149219T>CCA362182533GABRG2c.1035T>C
c.1154T>C (p.Phe385Ser)
c.1117T>C
n.288T>C
c.749T>C (p.Phe250Ser)
c.1034T>C (p.Phe345Ser)
c.911T>C
c.425T>C (p.Phe142Ser)
c.962T>C (p.Phe321Ser)
c.*234T>C (n.*234T>C)
c.968T>C (p.Phe323Ser)
n.332T>C
n.3565T>C
c.472T>C
c.947T>C (p.Phe316Ser)
c.*636T>C (n.*636T>C)
c.1155T>C (n.1155T>C)
c.1025T>C (p.Phe342Ser)
c.923-2511T>C (n.923-2511T>C)
c.1031T>C (p.Phe344Ser)
c.1073T>C (p.Phe358Ser)
c.614T>C (p.Phe205Ser)
5g.162149219T>GCA362182534GABRG2c.1035T>G
c.1154T>G (p.Phe385Cys)
c.1117T>G
n.288T>G
c.749T>G (p.Phe250Cys)
c.1034T>G (p.Phe345Cys)
c.911T>G
c.425T>G (p.Phe142Cys)
c.962T>G (p.Phe321Cys)
c.*234T>G (n.*234T>G)
c.968T>G (p.Phe323Cys)
n.332T>G
n.3565T>G
c.472T>G
c.947T>G (p.Phe316Cys)
c.*636T>G (n.*636T>G)
c.1155T>G (n.1155T>G)
c.1025T>G (p.Phe342Cys)
c.923-2511T>G (n.923-2511T>G)
c.1031T>G (p.Phe344Cys)
c.1073T>G (p.Phe358Cys)
c.614T>G (p.Phe205Cys)
5g.162149220T>ACA362182535GABRG2c.1036T>A
c.1155T>A (p.Phe385Leu)
c.1118T>A
n.289T>A
c.750T>A (p.Phe250Leu)
c.1035T>A (p.Phe345Leu)
c.912T>A
c.426T>A (p.Phe142Leu)
c.963T>A (p.Phe321Leu)
c.*235T>A (n.*235T>A)
c.969T>A (p.Phe323Leu)
n.333T>A
n.3566T>A
c.473T>A
c.948T>A (p.Phe316Leu)
c.*637T>A (n.*637T>A)
c.1156T>A (n.1156T>A)
c.1026T>A (p.Phe342Leu)
c.923-2510T>A (n.923-2510T>A)
c.1032T>A (p.Phe344Leu)
c.1074T>A (p.Phe358Leu)
c.615T>A (p.Phe205Leu)
5g.162149220T>CCA447610296GABRG2c.1036T>C
c.1155T>C (p.Phe385=)
c.1118T>C
n.289T>C
c.750T>C (p.Phe250=)
c.1035T>C (p.Phe345=)
c.912T>C
c.426T>C (p.Phe142=)
c.963T>C (p.Phe321=)
c.*235T>C (n.*235T>C)
c.969T>C (p.Phe323=)
n.333T>C
n.3566T>C
c.473T>C
c.948T>C (p.Phe316=)
c.*637T>C (n.*637T>C)
c.1156T>C (n.1156T>C)
c.1026T>C (p.Phe342=)
c.923-2510T>C (n.923-2510T>C)
c.1032T>C (p.Phe344=)
c.1074T>C (p.Phe358=)
c.615T>C (p.Phe205=)
5g.162149220T>GCA362182536GABRG2c.1036T>G
c.1155T>G (p.Phe385Leu)
c.1118T>G
n.289T>G
c.750T>G (p.Phe250Leu)
c.1035T>G (p.Phe345Leu)
c.912T>G
c.426T>G (p.Phe142Leu)
c.963T>G (p.Phe321Leu)
c.*235T>G (n.*235T>G)
c.969T>G (p.Phe323Leu)
n.333T>G
n.3566T>G
c.473T>G
c.948T>G (p.Phe316Leu)
c.*637T>G (n.*637T>G)
c.1156T>G (n.1156T>G)
c.1026T>G (p.Phe342Leu)
c.923-2510T>G (n.923-2510T>G)
c.1032T>G (p.Phe344Leu)
c.1074T>G (p.Phe358Leu)
c.615T>G (p.Phe205Leu)
5g.162149221G>ACA362182537GABRG2c.1037G>A
c.1156G>A (p.Val386Ile)
c.1119G>A
n.290G>A
c.751G>A (p.Val251Ile)
c.1036G>A (p.Val346Ile)
c.913G>A
c.427G>A (p.Val143Ile)
c.964G>A (p.Val322Ile)
c.*236G>A (n.*236G>A)
c.970G>A (p.Val324Ile)
n.334G>A
n.3567G>A
c.474G>A
c.949G>A (p.Val317Ile)
c.*638G>A (n.*638G>A)
c.1157G>A (n.1157G>A)
c.1027G>A (p.Val343Ile)
c.923-2509G>A (n.923-2509G>A)
c.1033G>A (p.Val345Ile)
c.1075G>A (p.Val359Ile)
c.616G>A (p.Val206Ile)
5g.162149221G>CCA362182538GABRG2c.1037G>C
c.1156G>C (p.Val386Leu)
c.1119G>C
n.290G>C
c.751G>C (p.Val251Leu)
c.1036G>C (p.Val346Leu)
c.913G>C
c.427G>C (p.Val143Leu)
c.964G>C (p.Val322Leu)
c.*236G>C (n.*236G>C)
c.970G>C (p.Val324Leu)
n.334G>C
n.3567G>C
c.474G>C
c.949G>C (p.Val317Leu)
c.*638G>C (n.*638G>C)
c.1157G>C (n.1157G>C)
c.1027G>C (p.Val343Leu)
c.923-2509G>C (n.923-2509G>C)
c.1033G>C (p.Val345Leu)
c.1075G>C (p.Val359Leu)
c.616G>C (p.Val206Leu)
5g.162149221G>TCA362182539GABRG2c.1037G>T
c.1156G>T (p.Val386Phe)
c.1119G>T
n.290G>T
c.751G>T (p.Val251Phe)
c.1036G>T (p.Val346Phe)
c.913G>T
c.427G>T (p.Val143Phe)
c.964G>T (p.Val322Phe)
c.*236G>T (n.*236G>T)
c.970G>T (p.Val324Phe)
n.334G>T
n.3567G>T
c.474G>T
c.949G>T (p.Val317Phe)
c.*638G>T (n.*638G>T)
c.1157G>T (n.1157G>T)
c.1027G>T (p.Val343Phe)
c.923-2509G>T (n.923-2509G>T)
c.1033G>T (p.Val345Phe)
c.1075G>T (p.Val359Phe)
c.616G>T (p.Val206Phe)
 ClinVar
5g.162149222T>ACA362182540GABRG2c.1038T>A
c.1157T>A (p.Val386Asp)
c.1120T>A
n.291T>A
c.752T>A (p.Val251Asp)
c.1037T>A (p.Val346Asp)
c.914T>A
c.428T>A (p.Val143Asp)
c.965T>A (p.Val322Asp)
c.*237T>A (n.*237T>A)
c.971T>A (p.Val324Asp)
n.335T>A
n.3568T>A
c.475T>A
c.950T>A (p.Val317Asp)
c.*639T>A (n.*639T>A)
c.1158T>A (n.1158T>A)
c.1028T>A (p.Val343Asp)
c.923-2508T>A (n.923-2508T>A)
c.1034T>A (p.Val345Asp)
c.1076T>A (p.Val359Asp)
c.617T>A (p.Val206Asp)
5g.162149222T>CCA362182541GABRG2c.1038T>C
c.1157T>C (p.Val386Ala)
c.1120T>C
n.291T>C
c.752T>C (p.Val251Ala)
c.1037T>C (p.Val346Ala)
c.914T>C
c.428T>C (p.Val143Ala)
c.965T>C (p.Val322Ala)
c.*237T>C (n.*237T>C)
c.971T>C (p.Val324Ala)
n.335T>C
n.3568T>C
c.475T>C
c.950T>C (p.Val317Ala)
c.*639T>C (n.*639T>C)
c.1158T>C (n.1158T>C)
c.1028T>C (p.Val343Ala)
c.923-2508T>C (n.923-2508T>C)
c.1034T>C (p.Val345Ala)
c.1076T>C (p.Val359Ala)
c.617T>C (p.Val206Ala)
5g.162149222T>GCA362182542GABRG2c.1038T>G
c.1157T>G (p.Val386Gly)
c.1120T>G
n.291T>G
c.752T>G (p.Val251Gly)
c.1037T>G (p.Val346Gly)
c.914T>G
c.428T>G (p.Val143Gly)
c.965T>G (p.Val322Gly)
c.*237T>G (n.*237T>G)
c.971T>G (p.Val324Gly)
n.335T>G
n.3568T>G
c.475T>G
c.950T>G (p.Val317Gly)
c.*639T>G (n.*639T>G)
c.1158T>G (n.1158T>G)
c.1028T>G (p.Val343Gly)
c.923-2508T>G (n.923-2508T>G)
c.1034T>G (p.Val345Gly)
c.1076T>G (p.Val359Gly)
c.617T>G (p.Val206Gly)
 ClinVar
5g.162149223C>ACA447610297GABRG2c.1039C>A
c.1158C>A (p.Val386=)
c.1121C>A
n.292C>A
c.753C>A (p.Val251=)
c.1038C>A (p.Val346=)
c.915C>A
c.429C>A (p.Val143=)
c.966C>A (p.Val322=)
c.*238C>A (n.*238C>A)
c.972C>A (p.Val324=)
n.336C>A
n.3569C>A
c.476C>A
c.951C>A (p.Val317=)
c.*640C>A (n.*640C>A)
c.1159C>A (n.1159C>A)
c.1029C>A (p.Val343=)
c.923-2507C>A (n.923-2507C>A)
c.1035C>A (p.Val345=)
c.1077C>A (p.Val359=)
c.618C>A (p.Val206=)
5g.162149223C>GCA447610298GABRG2c.1039C>G
c.1158C>G (p.Val386=)
c.1121C>G
n.292C>G
c.753C>G (p.Val251=)
c.1038C>G (p.Val346=)
c.915C>G
c.429C>G (p.Val143=)
c.966C>G (p.Val322=)
c.*238C>G (n.*238C>G)
c.972C>G (p.Val324=)
n.336C>G
n.3569C>G
c.476C>G
c.951C>G (p.Val317=)
c.*640C>G (n.*640C>G)
c.1159C>G (n.1159C>G)
c.1029C>G (p.Val343=)
c.923-2507C>G (n.923-2507C>G)
c.1035C>G (p.Val345=)
c.1077C>G (p.Val359=)
c.618C>G (p.Val206=)
5g.162149223C>TCA447610299GABRG2c.1039C>T
c.1158C>T (p.Val386=)
c.1121C>T
n.292C>T
c.753C>T (p.Val251=)
c.1038C>T (p.Val346=)
c.915C>T
c.429C>T (p.Val143=)
c.966C>T (p.Val322=)
c.*238C>T (n.*238C>T)
c.972C>T (p.Val324=)
n.336C>T
n.3569C>T
c.476C>T
c.951C>T (p.Val317=)
c.*640C>T (n.*640C>T)
c.1159C>T (n.1159C>T)
c.1029C>T (p.Val343=)
c.923-2507C>T (n.923-2507C>T)
c.1035C>T (p.Val345=)
c.1077C>T (p.Val359=)
c.618C>T (p.Val206=)
5g.162149224T>ACA362182544GABRG2c.1040T>A
c.1159T>A (p.Phe387Ile)
c.1122T>A
n.293T>A
c.754T>A (p.Phe252Ile)
c.1039T>A (p.Phe347Ile)
c.916T>A
c.430T>A (p.Phe144Ile)
c.967T>A (p.Phe323Ile)
c.*239T>A (n.*239T>A)
c.973T>A (p.Phe325Ile)
n.337T>A
n.3570T>A
c.477T>A
c.952T>A (p.Phe318Ile)
c.*641T>A (n.*641T>A)
c.1160T>A (n.1160T>A)
c.1030T>A (p.Phe344Ile)
c.923-2506T>A (n.923-2506T>A)
c.1036T>A (p.Phe346Ile)
c.1078T>A (p.Phe360Ile)
c.619T>A (p.Phe207Ile)
 gnomAD v4
5g.162149224T>CCA362182545GABRG2c.1040T>C
c.1159T>C (p.Phe387Leu)
c.1122T>C
n.293T>C
c.754T>C (p.Phe252Leu)
c.1039T>C (p.Phe347Leu)
c.916T>C
c.430T>C (p.Phe144Leu)
c.967T>C (p.Phe323Leu)
c.*239T>C (n.*239T>C)
c.973T>C (p.Phe325Leu)
n.337T>C
n.3570T>C
c.477T>C
c.952T>C (p.Phe318Leu)
c.*641T>C (n.*641T>C)
c.1160T>C (n.1160T>C)
c.1030T>C (p.Phe344Leu)
c.923-2506T>C (n.923-2506T>C)
c.1036T>C (p.Phe346Leu)
c.1078T>C (p.Phe360Leu)
c.619T>C (p.Phe207Leu)
5g.162149224T>GCA362182543GABRG2c.1040T>G
c.1159T>G (p.Phe387Val)
c.1122T>G
n.293T>G
c.754T>G (p.Phe252Val)
c.1039T>G (p.Phe347Val)
c.916T>G
c.430T>G (p.Phe144Val)
c.967T>G (p.Phe323Val)
c.*239T>G (n.*239T>G)
c.973T>G (p.Phe325Val)
n.337T>G
n.3570T>G
c.477T>G
c.952T>G (p.Phe318Val)
c.*641T>G (n.*641T>G)
c.1160T>G (n.1160T>G)
c.1030T>G (p.Phe344Val)
c.923-2506T>G (n.923-2506T>G)
c.1036T>G (p.Phe346Val)
c.1078T>G (p.Phe360Val)
c.619T>G (p.Phe207Val)
 COSMIC
5g.162149225T>ACA362182547GABRG2c.1041T>A
c.1160T>A (p.Phe387Tyr)
c.1123T>A
n.294T>A
c.755T>A (p.Phe252Tyr)
c.1040T>A (p.Phe347Tyr)
c.917T>A
c.431T>A (p.Phe144Tyr)
c.968T>A (p.Phe323Tyr)
c.*240T>A (n.*240T>A)
c.974T>A (p.Phe325Tyr)
n.338T>A
n.3571T>A
c.478T>A
c.953T>A (p.Phe318Tyr)
c.*642T>A (n.*642T>A)
c.1161T>A (n.1161T>A)
c.1031T>A (p.Phe344Tyr)
c.923-2505T>A (n.923-2505T>A)
c.1037T>A (p.Phe346Tyr)
c.1079T>A (p.Phe360Tyr)
c.620T>A (p.Phe207Tyr)
5g.162149225T>CCA362182546GABRG2c.1041T>C
c.1160T>C (p.Phe387Ser)
c.1123T>C
n.294T>C
c.755T>C (p.Phe252Ser)
c.1040T>C (p.Phe347Ser)
c.917T>C
c.431T>C (p.Phe144Ser)
c.968T>C (p.Phe323Ser)
c.*240T>C (n.*240T>C)
c.974T>C (p.Phe325Ser)
n.338T>C
n.3571T>C
c.478T>C
c.953T>C (p.Phe318Ser)
c.*642T>C (n.*642T>C)
c.1161T>C (n.1161T>C)
c.1031T>C (p.Phe344Ser)
c.923-2505T>C (n.923-2505T>C)
c.1037T>C (p.Phe346Ser)
c.1079T>C (p.Phe360Ser)
c.620T>C (p.Phe207Ser)
5g.162149225T>GCA362182548GABRG2c.1041T>G
c.1160T>G (p.Phe387Cys)
c.1123T>G
n.294T>G
c.755T>G (p.Phe252Cys)
c.1040T>G (p.Phe347Cys)
c.917T>G
c.431T>G (p.Phe144Cys)
c.968T>G (p.Phe323Cys)
c.*240T>G (n.*240T>G)
c.974T>G (p.Phe325Cys)
n.338T>G
n.3571T>G
c.478T>G
c.953T>G (p.Phe318Cys)
c.*642T>G (n.*642T>G)
c.1161T>G (n.1161T>G)
c.1031T>G (p.Phe344Cys)
c.923-2505T>G (n.923-2505T>G)
c.1037T>G (p.Phe346Cys)
c.1079T>G (p.Phe360Cys)
c.620T>G (p.Phe207Cys)
5g.162149226C>ACA362182549GABRG2c.1042C>A
c.1161C>A (p.Phe387Leu)
c.1124C>A
n.295C>A
c.756C>A (p.Phe252Leu)
c.1041C>A (p.Phe347Leu)
c.918C>A
c.432C>A (p.Phe144Leu)
c.969C>A (p.Phe323Leu)
c.*241C>A (n.*241C>A)
c.975C>A (p.Phe325Leu)
n.339C>A
n.3572C>A
c.479C>A
c.954C>A (p.Phe318Leu)
c.*643C>A (n.*643C>A)
c.1162C>A (n.1162C>A)
c.1032C>A (p.Phe344Leu)
c.923-2504C>A (n.923-2504C>A)
c.1038C>A (p.Phe346Leu)
c.1080C>A (p.Phe360Leu)
c.621C>A (p.Phe207Leu)
5g.162149226C>GCA362182550GABRG2c.1042C>G
c.1161C>G (p.Phe387Leu)
c.1124C>G
n.295C>G
c.756C>G (p.Phe252Leu)
c.1041C>G (p.Phe347Leu)
c.918C>G
c.432C>G (p.Phe144Leu)
c.969C>G (p.Phe323Leu)
c.*241C>G (n.*241C>G)
c.975C>G (p.Phe325Leu)
n.339C>G
n.3572C>G
c.479C>G
c.954C>G (p.Phe318Leu)
c.*643C>G (n.*643C>G)
c.1162C>G (n.1162C>G)
c.1032C>G (p.Phe344Leu)
c.923-2504C>G (n.923-2504C>G)
c.1038C>G (p.Phe346Leu)
c.1080C>G (p.Phe360Leu)
c.621C>G (p.Phe207Leu)
5g.162149226C>TCA447610300GABRG2c.1042C>T
c.1161C>T (p.Phe387=)
c.1124C>T
n.295C>T
c.756C>T (p.Phe252=)
c.1041C>T (p.Phe347=)
c.918C>T
c.432C>T (p.Phe144=)
c.969C>T (p.Phe323=)
c.*241C>T (n.*241C>T)
c.975C>T (p.Phe325=)
n.339C>T
n.3572C>T
c.479C>T
c.954C>T (p.Phe318=)
c.*643C>T (n.*643C>T)
c.1162C>T (n.1162C>T)
c.1032C>T (p.Phe344=)
c.923-2504C>T (n.923-2504C>T)
c.1038C>T (p.Phe346=)
c.1080C>T (p.Phe360=)
c.621C>T (p.Phe207=)
 COSMIC
5g.162149227T>ACA362182551GABRG2c.1043T>A
c.1162T>A (p.Ser388Thr)
c.1125T>A
n.296T>A
c.757T>A (p.Ser253Thr)
c.1042T>A (p.Ser348Thr)
c.919T>A
c.433T>A (p.Ser145Thr)
c.970T>A (p.Ser324Thr)
c.*242T>A (n.*242T>A)
c.976T>A (p.Ser326Thr)
n.340T>A
n.3573T>A
c.480T>A
c.955T>A (p.Ser319Thr)
c.*644T>A (n.*644T>A)
c.1163T>A (n.1163T>A)
c.1033T>A (p.Ser345Thr)
c.923-2503T>A (n.923-2503T>A)
c.1039T>A (p.Ser347Thr)
c.1081T>A (p.Ser361Thr)
c.622T>A (p.Ser208Thr)
5g.162149227T>CCA362182552GABRG2c.1043T>C
c.1162T>C (p.Ser388Pro)
c.1125T>C
n.296T>C
c.757T>C (p.Ser253Pro)
c.1042T>C (p.Ser348Pro)
c.919T>C
c.433T>C (p.Ser145Pro)
c.970T>C (p.Ser324Pro)
c.*242T>C (n.*242T>C)
c.976T>C (p.Ser326Pro)
n.340T>C
n.3573T>C
c.480T>C
c.955T>C (p.Ser319Pro)
c.*644T>C (n.*644T>C)
c.1163T>C (n.1163T>C)
c.1033T>C (p.Ser345Pro)
c.923-2503T>C (n.923-2503T>C)
c.1039T>C (p.Ser347Pro)
c.1081T>C (p.Ser361Pro)
c.622T>C (p.Ser208Pro)
5g.162149227T>GCA362182553GABRG2c.1043T>G
c.1162T>G (p.Ser388Ala)
c.1125T>G
n.296T>G
c.757T>G (p.Ser253Ala)
c.1042T>G (p.Ser348Ala)
c.919T>G
c.433T>G (p.Ser145Ala)
c.970T>G (p.Ser324Ala)
c.*242T>G (n.*242T>G)
c.976T>G (p.Ser326Ala)
n.340T>G
n.3573T>G
c.480T>G
c.955T>G (p.Ser319Ala)
c.*644T>G (n.*644T>G)
c.1163T>G (n.1163T>G)
c.1033T>G (p.Ser345Ala)
c.923-2503T>G (n.923-2503T>G)
c.1039T>G (p.Ser347Ala)
c.1081T>G (p.Ser361Ala)
c.622T>G (p.Ser208Ala)
5g.162149228C>ACA362182554GABRG2c.1044C>A
c.1163C>A (p.Ser388Tyr)
c.1126C>A
n.297C>A
c.758C>A (p.Ser253Tyr)
c.1043C>A (p.Ser348Tyr)
c.920C>A
c.434C>A (p.Ser145Tyr)
c.971C>A (p.Ser324Tyr)
c.*243C>A (n.*243C>A)
c.977C>A (p.Ser326Tyr)
n.341C>A
n.3574C>A
c.481C>A
c.956C>A (p.Ser319Tyr)
c.*645C>A (n.*645C>A)
c.1164C>A (n.1164C>A)
c.1034C>A (p.Ser345Tyr)
c.923-2502C>A (n.923-2502C>A)
c.1040C>A (p.Ser347Tyr)
c.1082C>A (p.Ser361Tyr)
c.623C>A (p.Ser208Tyr)
5g.162149228C>GCA362182555GABRG2c.1044C>G
c.1163C>G (p.Ser388Cys)
c.1126C>G
n.297C>G
c.758C>G (p.Ser253Cys)
c.1043C>G (p.Ser348Cys)
c.920C>G
c.434C>G (p.Ser145Cys)
c.971C>G (p.Ser324Cys)
c.*243C>G (n.*243C>G)
c.977C>G (p.Ser326Cys)
n.341C>G
n.3574C>G
c.481C>G
c.956C>G (p.Ser319Cys)
c.*645C>G (n.*645C>G)
c.1164C>G (n.1164C>G)
c.1034C>G (p.Ser345Cys)
c.923-2502C>G (n.923-2502C>G)
c.1040C>G (p.Ser347Cys)
c.1082C>G (p.Ser361Cys)
c.623C>G (p.Ser208Cys)
 COSMIC
5g.162149228C>TCA362182556GABRG2c.1044C>T
c.1163C>T (p.Ser388Phe)
c.1126C>T
n.297C>T
c.758C>T (p.Ser253Phe)
c.1043C>T (p.Ser348Phe)
c.920C>T
c.434C>T (p.Ser145Phe)
c.971C>T (p.Ser324Phe)
c.*243C>T (n.*243C>T)
c.977C>T (p.Ser326Phe)
n.341C>T
n.3574C>T
c.481C>T
c.956C>T (p.Ser319Phe)
c.*645C>T (n.*645C>T)
c.1164C>T (n.1164C>T)
c.1034C>T (p.Ser345Phe)
c.923-2502C>T (n.923-2502C>T)
c.1040C>T (p.Ser347Phe)
c.1082C>T (p.Ser361Phe)
c.623C>T (p.Ser208Phe)
5g.162149229T>ACA447610301GABRG2c.1045T>A
c.1164T>A (p.Ser388=)
c.1127T>A
n.298T>A
c.759T>A (p.Ser253=)
c.1044T>A (p.Ser348=)
c.921T>A
c.435T>A (p.Ser145=)
c.972T>A (p.Ser324=)
c.*244T>A (n.*244T>A)
c.978T>A (p.Ser326=)
n.342T>A
n.3575T>A
c.482T>A
c.957T>A (p.Ser319=)
c.*646T>A (n.*646T>A)
c.1165T>A (n.1165T>A)
c.1035T>A (p.Ser345=)
c.923-2501T>A (n.923-2501T>A)
c.1041T>A (p.Ser347=)
c.1083T>A (p.Ser361=)
c.624T>A (p.Ser208=)
5g.162149229T>CCA447610302GABRG2c.1045T>C
c.1164T>C (p.Ser388=)
c.1127T>C
n.298T>C
c.759T>C (p.Ser253=)
c.1044T>C (p.Ser348=)
c.921T>C
c.435T>C (p.Ser145=)
c.972T>C (p.Ser324=)
c.*244T>C (n.*244T>C)
c.978T>C (p.Ser326=)
n.342T>C
n.3575T>C
c.482T>C
c.957T>C (p.Ser319=)
c.*646T>C (n.*646T>C)
c.1165T>C (n.1165T>C)
c.1035T>C (p.Ser345=)
c.923-2501T>C (n.923-2501T>C)
c.1041T>C (p.Ser347=)
c.1083T>C (p.Ser361=)
c.624T>C (p.Ser208=)
5g.162149229T>GCA447610303GABRG2c.1045T>G
c.1164T>G (p.Ser388=)
c.1127T>G
n.298T>G
c.759T>G (p.Ser253=)
c.1044T>G (p.Ser348=)
c.921T>G
c.435T>G (p.Ser145=)
c.972T>G (p.Ser324=)
c.*244T>G (n.*244T>G)
c.978T>G (p.Ser326=)
n.342T>G
n.3575T>G
c.482T>G
c.957T>G (p.Ser319=)
c.*646T>G (n.*646T>G)
c.1165T>G (n.1165T>G)
c.1035T>G (p.Ser345=)
c.923-2501T>G (n.923-2501T>G)
c.1041T>G (p.Ser347=)
c.1083T>G (p.Ser361=)
c.624T>G (p.Ser208=)
5g.162149230G>ACA3544867GABRG2c.1046G>A
c.1165G>A (p.Ala389Thr)
c.1128G>A
n.299G>A
c.760G>A (p.Ala254Thr)
c.1045G>A (p.Ala349Thr)
c.922G>A
c.436G>A (p.Ala146Thr)
c.973G>A (p.Ala325Thr)
c.*245G>A (n.*245G>A)
c.979G>A (p.Ala327Thr)
n.343G>A
n.3576G>A
c.483G>A
c.958G>A (p.Ala320Thr)
c.*647G>A (n.*647G>A)
c.1166G>A (n.1166G>A)
c.1036G>A (p.Ala346Thr)
c.923-2500G>A (n.923-2500G>A)
c.1042G>A (p.Ala348Thr)
c.1084G>A (p.Ala362Thr)
c.625G>A (p.Ala209Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.162149230G>CCA362182557GABRG2c.1046G>C
c.1165G>C (p.Ala389Pro)
c.1128G>C
n.299G>C
c.760G>C (p.Ala254Pro)
c.1045G>C (p.Ala349Pro)
c.922G>C
c.436G>C (p.Ala146Pro)
c.973G>C (p.Ala325Pro)
c.*245G>C (n.*245G>C)
c.979G>C (p.Ala327Pro)
n.343G>C
n.3576G>C
c.483G>C
c.958G>C (p.Ala320Pro)
c.*647G>C (n.*647G>C)
c.1166G>C (n.1166G>C)
c.1036G>C (p.Ala346Pro)
c.923-2500G>C (n.923-2500G>C)
c.1042G>C (p.Ala348Pro)
c.1084G>C (p.Ala362Pro)
c.625G>C (p.Ala209Pro)
5g.162149230G=CA1596380270GABRG2c.1046G=
c.1165G= (p.Ala389=)
c.1128G=
n.299G=
c.760G= (p.Ala254=)
c.1045G= (p.Ala349=)
c.922G=
c.436G= (p.Ala146=)
c.973G= (p.Ala325=)
c.*245G= (n.*245G=)
c.979G= (p.Ala327=)
n.343G=
n.3576G=
c.483G=
c.958G= (p.Ala320=)
c.*647G= (n.*647G=)
c.1166G= (n.1166G=)
c.1036G= (p.Ala346=)
c.923-2500G= (n.923-2500G=)
c.1042G= (p.Ala348=)
c.1084G= (p.Ala362=)
c.625G= (p.Ala209=)
5g.162149230G>TCA362182558GABRG2c.1046G>T
c.1165G>T (p.Ala389Ser)
c.1128G>T
n.299G>T
c.760G>T (p.Ala254Ser)
c.1045G>T (p.Ala349Ser)
c.922G>T
c.436G>T (p.Ala146Ser)
c.973G>T (p.Ala325Ser)
c.*245G>T (n.*245G>T)
c.979G>T (p.Ala327Ser)
n.343G>T
n.3576G>T
c.483G>T
c.958G>T (p.Ala320Ser)
c.*647G>T (n.*647G>T)
c.1166G>T (n.1166G>T)
c.1036G>T (p.Ala346Ser)
c.923-2500G>T (n.923-2500G>T)
c.1042G>T (p.Ala348Ser)
c.1084G>T (p.Ala362Ser)
c.625G>T (p.Ala209Ser)
5g.162149231C>ACA362182561GABRG2c.1047C>A
c.1166C>A (p.Ala389Asp)
c.1129C>A
n.300C>A
c.761C>A (p.Ala254Asp)
c.1046C>A (p.Ala349Asp)
c.923C>A
c.437C>A (p.Ala146Asp)
c.974C>A (p.Ala325Asp)
c.*246C>A (n.*246C>A)
c.980C>A (p.Ala327Asp)
n.344C>A
n.3577C>A
c.484C>A
c.959C>A (p.Ala320Asp)
c.*648C>A (n.*648C>A)
c.1167C>A (n.1167C>A)
c.1037C>A (p.Ala346Asp)
c.923-2499C>A (n.923-2499C>A)
c.1043C>A (p.Ala348Asp)
c.1085C>A (p.Ala362Asp)
c.626C>A (p.Ala209Asp)
 ClinVar
5g.162149231C>GCA362182560GABRG2c.1047C>G
c.1166C>G (p.Ala389Gly)
c.1129C>G
n.300C>G
c.761C>G (p.Ala254Gly)
c.1046C>G (p.Ala349Gly)
c.923C>G
c.437C>G (p.Ala146Gly)
c.974C>G (p.Ala325Gly)
c.*246C>G (n.*246C>G)
c.980C>G (p.Ala327Gly)
n.344C>G
n.3577C>G
c.484C>G
c.959C>G (p.Ala320Gly)
c.*648C>G (n.*648C>G)
c.1167C>G (n.1167C>G)
c.1037C>G (p.Ala346Gly)
c.923-2499C>G (n.923-2499C>G)
c.1043C>G (p.Ala348Gly)
c.1085C>G (p.Ala362Gly)
c.626C>G (p.Ala209Gly)
5g.162149231C>TCA362182559GABRG2c.1047C>T
c.1166C>T (p.Ala389Val)
c.1129C>T
n.300C>T
c.761C>T (p.Ala254Val)
c.1046C>T (p.Ala349Val)
c.923C>T
c.437C>T (p.Ala146Val)
c.974C>T (p.Ala325Val)
c.*246C>T (n.*246C>T)
c.980C>T (p.Ala327Val)
n.344C>T
n.3577C>T
c.484C>T
c.959C>T (p.Ala320Val)
c.*648C>T (n.*648C>T)
c.1167C>T (n.1167C>T)
c.1037C>T (p.Ala346Val)
c.923-2499C>T (n.923-2499C>T)
c.1043C>T (p.Ala348Val)
c.1085C>T (p.Ala362Val)
c.626C>T (p.Ala209Val)
5g.162149232T>ACA447610304GABRG2c.1048T>A
c.1167T>A (p.Ala389=)
c.1130T>A
n.301T>A
c.762T>A (p.Ala254=)
c.1047T>A (p.Ala349=)
c.924T>A
c.438T>A (p.Ala146=)
c.975T>A (p.Ala325=)
c.*247T>A (n.*247T>A)
c.981T>A (p.Ala327=)
n.345T>A
n.3578T>A
c.485T>A
c.960T>A (p.Ala320=)
c.*649T>A (n.*649T>A)
c.1168T>A (n.1168T>A)
c.1038T>A (p.Ala346=)
c.923-2498T>A (n.923-2498T>A)
c.1044T>A (p.Ala348=)
c.1086T>A (p.Ala362=)
c.627T>A (p.Ala209=)
5g.162149232T>CCA447610305GABRG2c.1048T>C
c.1167T>C (p.Ala389=)
c.1130T>C
n.301T>C
c.762T>C (p.Ala254=)
c.1047T>C (p.Ala349=)
c.924T>C
c.438T>C (p.Ala146=)
c.975T>C (p.Ala325=)
c.*247T>C (n.*247T>C)
c.981T>C (p.Ala327=)
n.345T>C
n.3578T>C
c.485T>C
c.960T>C (p.Ala320=)
c.*649T>C (n.*649T>C)
c.1168T>C (n.1168T>C)
c.1038T>C (p.Ala346=)
c.923-2498T>C (n.923-2498T>C)
c.1044T>C (p.Ala348=)
c.1086T>C (p.Ala362=)
c.627T>C (p.Ala209=)
5g.162149232T>GCA447610306GABRG2c.1048T>G
c.1167T>G (p.Ala389=)
c.1130T>G
n.301T>G
c.762T>G (p.Ala254=)
c.1047T>G (p.Ala349=)
c.924T>G
c.438T>G (p.Ala146=)
c.975T>G (p.Ala325=)
c.*247T>G (n.*247T>G)
c.981T>G (p.Ala327=)
n.345T>G
n.3578T>G
c.485T>G
c.960T>G (p.Ala320=)
c.*649T>G (n.*649T>G)
c.1168T>G (n.1168T>G)
c.1038T>G (p.Ala346=)
c.923-2498T>G (n.923-2498T>G)
c.1044T>G (p.Ala348=)
c.1086T>G (p.Ala362=)
c.627T>G (p.Ala209=)
5g.162149233C>ACA362182562GABRG2c.1049C>A
c.1168C>A (p.Leu390Met)
c.1131C>A
n.302C>A
c.763C>A (p.Leu255Met)
c.1048C>A (p.Leu350Met)
c.925C>A
c.439C>A (p.Leu147Met)
c.976C>A (p.Leu326Met)
c.*248C>A (n.*248C>A)
c.982C>A (p.Leu328Met)
n.346C>A
n.3579C>A
c.486C>A
c.961C>A (p.Leu321Met)
c.*650C>A (n.*650C>A)
c.1169C>A (n.1169C>A)
c.1039C>A (p.Leu347Met)
c.923-2497C>A (n.923-2497C>A)
c.1045C>A (p.Leu349Met)
c.1087C>A (p.Leu363Met)
c.628C>A (p.Leu210Met)
5g.162149233C>GCA362182563GABRG2c.1049C>G
c.1168C>G (p.Leu390Val)
c.1131C>G
n.302C>G
c.763C>G (p.Leu255Val)
c.1048C>G (p.Leu350Val)
c.925C>G
c.439C>G (p.Leu147Val)
c.976C>G (p.Leu326Val)
c.*248C>G (n.*248C>G)
c.982C>G (p.Leu328Val)
n.346C>G
n.3579C>G
c.486C>G
c.961C>G (p.Leu321Val)
c.*650C>G (n.*650C>G)
c.1169C>G (n.1169C>G)
c.1039C>G (p.Leu347Val)
c.923-2497C>G (n.923-2497C>G)
c.1045C>G (p.Leu349Val)
c.1087C>G (p.Leu363Val)
c.628C>G (p.Leu210Val)
5g.162149233C>TCA447610308GABRG2c.1049C>T
c.1168C>T (p.Leu390=)
c.1131C>T
n.302C>T
c.763C>T (p.Leu255=)
c.1048C>T (p.Leu350=)
c.925C>T
c.439C>T (p.Leu147=)
c.976C>T (p.Leu326=)
c.*248C>T (n.*248C>T)
c.982C>T (p.Leu328=)
n.346C>T
n.3579C>T
c.486C>T
c.961C>T (p.Leu321=)
c.*650C>T (n.*650C>T)
c.1169C>T (n.1169C>T)
c.1039C>T (p.Leu347=)
c.923-2497C>T (n.923-2497C>T)
c.1045C>T (p.Leu349=)
c.1087C>T (p.Leu363=)
c.628C>T (p.Leu210=)
5g.162149234T>ACA362182564GABRG2c.1050T>A
c.1169T>A (p.Leu390Gln)
c.1132T>A
n.303T>A
c.764T>A (p.Leu255Gln)
c.1049T>A (p.Leu350Gln)
c.926T>A
c.440T>A (p.Leu147Gln)
c.977T>A (p.Leu326Gln)
c.*249T>A (n.*249T>A)
c.983T>A (p.Leu328Gln)
n.347T>A
n.3580T>A
c.487T>A
c.962T>A (p.Leu321Gln)
c.*651T>A (n.*651T>A)
c.1170T>A (n.1170T>A)
c.1040T>A (p.Leu347Gln)
c.923-2496T>A (n.923-2496T>A)
c.1046T>A (p.Leu349Gln)
c.1088T>A (p.Leu363Gln)
c.629T>A (p.Leu210Gln)
5g.162149234T>CCA362182565GABRG2c.1050T>C
c.1169T>C (p.Leu390Pro)
c.1132T>C
n.303T>C
c.764T>C (p.Leu255Pro)
c.1049T>C (p.Leu350Pro)
c.926T>C
c.440T>C (p.Leu147Pro)
c.977T>C (p.Leu326Pro)
c.*249T>C (n.*249T>C)
c.983T>C (p.Leu328Pro)
n.347T>C
n.3580T>C
c.487T>C
c.962T>C (p.Leu321Pro)
c.*651T>C (n.*651T>C)
c.1170T>C (n.1170T>C)
c.1040T>C (p.Leu347Pro)
c.923-2496T>C (n.923-2496T>C)
c.1046T>C (p.Leu349Pro)
c.1088T>C (p.Leu363Pro)
c.629T>C (p.Leu210Pro)
 dbSNP
5g.162149234T>GCA362182566GABRG2c.1050T>G
c.1169T>G (p.Leu390Arg)
c.1132T>G
n.303T>G
c.764T>G (p.Leu255Arg)
c.1049T>G (p.Leu350Arg)
c.926T>G
c.440T>G (p.Leu147Arg)
c.977T>G (p.Leu326Arg)
c.*249T>G (n.*249T>G)
c.983T>G (p.Leu328Arg)
n.347T>G
n.3580T>G
c.487T>G
c.962T>G (p.Leu321Arg)
c.*651T>G (n.*651T>G)
c.1170T>G (n.1170T>G)
c.1040T>G (p.Leu347Arg)
c.923-2496T>G (n.923-2496T>G)
c.1046T>G (p.Leu349Arg)
c.1088T>G (p.Leu363Arg)
c.629T>G (p.Leu210Arg)
5g.162149235G>ACA447610309GABRG2c.1051G>A
c.1170G>A (p.Leu390=)
c.1133G>A
n.304G>A
c.765G>A (p.Leu255=)
c.1050G>A (p.Leu350=)
c.927G>A
c.441G>A (p.Leu147=)
c.978G>A (p.Leu326=)
c.*250G>A (n.*250G>A)
c.984G>A (p.Leu328=)
n.348G>A
n.3581G>A
c.488G>A
c.963G>A (p.Leu321=)
c.*652G>A (n.*652G>A)
c.1171G>A (n.1171G>A)
c.1041G>A (p.Leu347=)
c.923-2495G>A (n.923-2495G>A)
c.1047G>A (p.Leu349=)
c.1089G>A (p.Leu363=)
c.630G>A (p.Leu210=)
5g.162149235G>CCA447610310GABRG2c.1051G>C
c.1170G>C (p.Leu390=)
c.1133G>C
n.304G>C
c.765G>C (p.Leu255=)
c.1050G>C (p.Leu350=)
c.927G>C
c.441G>C (p.Leu147=)
c.978G>C (p.Leu326=)
c.*250G>C (n.*250G>C)
c.984G>C (p.Leu328=)
n.348G>C
n.3581G>C
c.488G>C
c.963G>C (p.Leu321=)
c.*652G>C (n.*652G>C)
c.1171G>C (n.1171G>C)
c.1041G>C (p.Leu347=)
c.923-2495G>C (n.923-2495G>C)
c.1047G>C (p.Leu349=)
c.1089G>C (p.Leu363=)
c.630G>C (p.Leu210=)
5g.162149235G>TCA447610311GABRG2c.1051G>T
c.1170G>T (p.Leu390=)
c.1133G>T
n.304G>T
c.765G>T (p.Leu255=)
c.1050G>T (p.Leu350=)
c.927G>T
c.441G>T (p.Leu147=)
c.978G>T (p.Leu326=)
c.*250G>T (n.*250G>T)
c.984G>T (p.Leu328=)
n.348G>T
n.3581G>T
c.488G>T
c.963G>T (p.Leu321=)
c.*652G>T (n.*652G>T)
c.1171G>T (n.1171G>T)
c.1041G>T (p.Leu347=)
c.923-2495G>T (n.923-2495G>T)
c.1047G>T (p.Leu349=)
c.1089G>T (p.Leu363=)
c.630G>T (p.Leu210=)
5g.162149236G>ACA362182567GABRG2c.1052G>A
c.1171G>A (p.Val391Met)
c.1134G>A
n.305G>A
c.766G>A (p.Val256Met)
c.1051G>A (p.Val351Met)
c.928G>A
c.442G>A (p.Val148Met)
c.979G>A (p.Val327Met)
c.*251G>A (n.*251G>A)
c.985G>A (p.Val329Met)
n.349G>A
n.3582G>A
c.489G>A
c.964G>A (p.Val322Met)
c.*653G>A (n.*653G>A)
c.1172G>A (n.1172G>A)
c.1042G>A (p.Val348Met)
c.923-2494G>A (n.923-2494G>A)
c.1048G>A (p.Val350Met)
c.1090G>A (p.Val364Met)
c.631G>A (p.Val211Met)
5g.162149236G>CCA362182568GABRG2c.1052G>C
c.1171G>C (p.Val391Leu)
c.1134G>C
n.305G>C
c.766G>C (p.Val256Leu)
c.1051G>C (p.Val351Leu)
c.928G>C
c.442G>C (p.Val148Leu)
c.979G>C (p.Val327Leu)
c.*251G>C (n.*251G>C)
c.985G>C (p.Val329Leu)
n.349G>C
n.3582G>C
c.489G>C
c.964G>C (p.Val322Leu)
c.*653G>C (n.*653G>C)
c.1172G>C (n.1172G>C)
c.1042G>C (p.Val348Leu)
c.923-2494G>C (n.923-2494G>C)
c.1048G>C (p.Val350Leu)
c.1090G>C (p.Val364Leu)
c.631G>C (p.Val211Leu)
5g.162149236G>TCA362182569GABRG2c.1052G>T
c.1171G>T (p.Val391Leu)
c.1134G>T
n.305G>T
c.766G>T (p.Val256Leu)
c.1051G>T (p.Val351Leu)
c.928G>T
c.442G>T (p.Val148Leu)
c.979G>T (p.Val327Leu)
c.*251G>T (n.*251G>T)
c.985G>T (p.Val329Leu)
n.349G>T
n.3582G>T
c.489G>T
c.964G>T (p.Val322Leu)
c.*653G>T (n.*653G>T)
c.1172G>T (n.1172G>T)
c.1042G>T (p.Val348Leu)
c.923-2494G>T (n.923-2494G>T)
c.1048G>T (p.Val350Leu)
c.1090G>T (p.Val364Leu)
c.631G>T (p.Val211Leu)
 ClinVar COSMIC
5g.162149237T>ACA362182570GABRG2c.1053T>A
c.1172T>A (p.Val391Glu)
c.1135T>A
n.306T>A
c.767T>A (p.Val256Glu)
c.1052T>A (p.Val351Glu)
c.929T>A
c.443T>A (p.Val148Glu)
c.980T>A (p.Val327Glu)
c.*252T>A (n.*252T>A)
c.986T>A (p.Val329Glu)
n.350T>A
n.3583T>A
c.490T>A
c.965T>A (p.Val322Glu)
c.*654T>A (n.*654T>A)
c.1173T>A (n.1173T>A)
c.1043T>A (p.Val348Glu)
c.923-2493T>A (n.923-2493T>A)
c.1049T>A (p.Val350Glu)
c.1091T>A (p.Val364Glu)
c.632T>A (p.Val211Glu)
 COSMIC
5g.162149237T>CCA362182571GABRG2c.1053T>C
c.1172T>C (p.Val391Ala)
c.1135T>C
n.306T>C
c.767T>C (p.Val256Ala)
c.1052T>C (p.Val351Ala)
c.929T>C
c.443T>C (p.Val148Ala)
c.980T>C (p.Val327Ala)
c.*252T>C (n.*252T>C)
c.986T>C (p.Val329Ala)
n.350T>C
n.3583T>C
c.490T>C
c.965T>C (p.Val322Ala)
c.*654T>C (n.*654T>C)
c.1173T>C (n.1173T>C)
c.1043T>C (p.Val348Ala)
c.923-2493T>C (n.923-2493T>C)
c.1049T>C (p.Val350Ala)
c.1091T>C (p.Val364Ala)
c.632T>C (p.Val211Ala)
5g.162149237T>GCA362182572GABRG2c.1053T>G
c.1172T>G (p.Val391Gly)
c.1135T>G
n.306T>G
c.767T>G (p.Val256Gly)
c.1052T>G (p.Val351Gly)
c.929T>G
c.443T>G (p.Val148Gly)
c.980T>G (p.Val327Gly)
c.*252T>G (n.*252T>G)
c.986T>G (p.Val329Gly)
n.350T>G
n.3583T>G
c.490T>G
c.965T>G (p.Val322Gly)
c.*654T>G (n.*654T>G)
c.1173T>G (n.1173T>G)
c.1043T>G (p.Val348Gly)
c.923-2493T>G (n.923-2493T>G)
c.1049T>G (p.Val350Gly)
c.1091T>G (p.Val364Gly)
c.632T>G (p.Val211Gly)
5g.162149238G>ACA3544868GABRG2c.1054G>A
c.1173G>A (p.Val391=)
c.1136G>A
n.307G>A
c.768G>A (p.Val256=)
c.1053G>A (p.Val351=)
c.930G>A
c.444G>A (p.Val148=)
c.981G>A (p.Val327=)
c.*253G>A (n.*253G>A)
c.987G>A (p.Val329=)
n.351G>A
n.3584G>A
c.491G>A
c.966G>A (p.Val322=)
c.*655G>A (n.*655G>A)
c.1174G>A (n.1174G>A)
c.1044G>A (p.Val348=)
c.923-2492G>A (n.923-2492G>A)
c.1050G>A (p.Val350=)
c.1092G>A (p.Val364=)
c.633G>A (p.Val211=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.162149238G>CCA447610312GABRG2c.1054G>C
c.1173G>C (p.Val391=)
c.1136G>C
n.307G>C
c.768G>C (p.Val256=)
c.1053G>C (p.Val351=)
c.930G>C
c.444G>C (p.Val148=)
c.981G>C (p.Val327=)
c.*253G>C (n.*253G>C)
c.987G>C (p.Val329=)
n.351G>C
n.3584G>C
c.491G>C
c.966G>C (p.Val322=)
c.*655G>C (n.*655G>C)
c.1174G>C (n.1174G>C)
c.1044G>C (p.Val348=)
c.923-2492G>C (n.923-2492G>C)
c.1050G>C (p.Val350=)
c.1092G>C (p.Val364=)
c.633G>C (p.Val211=)
5g.162149238G=CA1596380271GABRG2c.1054G=
c.1173G= (p.Val391=)
c.1136G=
n.307G=
c.768G= (p.Val256=)
c.1053G= (p.Val351=)
c.930G=
c.444G= (p.Val148=)
c.981G= (p.Val327=)
c.*253G= (n.*253G=)
c.987G= (p.Val329=)
n.351G=
n.3584G=
c.491G=
c.966G= (p.Val322=)
c.*655G= (n.*655G=)
c.1174G= (n.1174G=)
c.1044G= (p.Val348=)
c.923-2492G= (n.923-2492G=)
c.1050G= (p.Val350=)
c.1092G= (p.Val364=)
c.633G= (p.Val211=)
5g.162149238G>TCA447610313GABRG2c.1054G>T
c.1173G>T (p.Val391=)
c.1136G>T
n.307G>T
c.768G>T (p.Val256=)
c.1053G>T (p.Val351=)
c.930G>T
c.444G>T (p.Val148=)
c.981G>T (p.Val327=)
c.*253G>T (n.*253G>T)
c.987G>T (p.Val329=)
n.351G>T
n.3584G>T
c.491G>T
c.966G>T (p.Val322=)
c.*655G>T (n.*655G>T)
c.1174G>T (n.1174G>T)
c.1044G>T (p.Val348=)
c.923-2492G>T (n.923-2492G>T)
c.1050G>T (p.Val350=)
c.1092G>T (p.Val364=)
c.633G>T (p.Val211=)
5g.162149239G>ACA362182575GABRG2c.1055G>A
c.1174G>A (p.Glu392Lys)
c.1137G>A
n.308G>A
c.769G>A (p.Glu257Lys)
c.1054G>A (p.Glu352Lys)
c.931G>A
c.445G>A (p.Glu149Lys)
c.982G>A (p.Glu328Lys)
c.*254G>A (n.*254G>A)
c.988G>A (p.Glu330Lys)
n.352G>A
n.3585G>A
c.492G>A
c.967G>A (p.Glu323Lys)
c.*656G>A (n.*656G>A)
c.1175G>A (n.1175G>A)
c.1045G>A (p.Glu349Lys)
c.923-2491G>A (n.923-2491G>A)
c.1051G>A (p.Glu351Lys)
c.1093G>A (p.Glu365Lys)
c.634G>A (p.Glu212Lys)
5g.162149239G>CCA362182574GABRG2c.1055G>C
c.1174G>C (p.Glu392Gln)
c.1137G>C
n.308G>C
c.769G>C (p.Glu257Gln)
c.1054G>C (p.Glu352Gln)
c.931G>C
c.445G>C (p.Glu149Gln)
c.982G>C (p.Glu328Gln)
c.*254G>C (n.*254G>C)
c.988G>C (p.Glu330Gln)
n.352G>C
n.3585G>C
c.492G>C
c.967G>C (p.Glu323Gln)
c.*656G>C (n.*656G>C)
c.1175G>C (n.1175G>C)
c.1045G>C (p.Glu349Gln)
c.923-2491G>C (n.923-2491G>C)
c.1051G>C (p.Glu351Gln)
c.1093G>C (p.Glu365Gln)
c.634G>C (p.Glu212Gln)
5g.162149239G>TCA362182573GABRG2c.1055G>T
c.1174G>T (p.Glu392Ter)
c.1137G>T
n.308G>T
c.769G>T (p.Glu257Ter)
c.1054G>T (p.Glu352Ter)
c.931G>T
c.445G>T (p.Glu149Ter)
c.982G>T (p.Glu328Ter)
c.*254G>T (n.*254G>T)
c.988G>T (p.Glu330Ter)
n.352G>T
n.3585G>T
c.492G>T
c.967G>T (p.Glu323Ter)
c.*656G>T (n.*656G>T)
c.1175G>T (n.1175G>T)
c.1045G>T (p.Glu349Ter)
c.923-2491G>T (n.923-2491G>T)
c.1051G>T (p.Glu351Ter)
c.1093G>T (p.Glu365Ter)
c.634G>T (p.Glu212Ter)
 gnomAD v4
5g.162149240A>CCA362182576GABRG2c.1056A>C
c.1175A>C (p.Glu392Ala)
c.1138A>C
n.309A>C
c.770A>C (p.Glu257Ala)
c.1055A>C (p.Glu352Ala)
c.932A>C
c.446A>C (p.Glu149Ala)
c.983A>C (p.Glu328Ala)
c.*255A>C (n.*255A>C)
c.989A>C (p.Glu330Ala)
n.353A>C
n.3586A>C
c.493A>C
c.968A>C (p.Glu323Ala)
c.*657A>C (n.*657A>C)
c.1176A>C (n.1176A>C)
c.1046A>C (p.Glu349Ala)
c.923-2490A>C (n.923-2490A>C)
c.1052A>C (p.Glu351Ala)
c.1094A>C (p.Glu365Ala)
c.635A>C (p.Glu212Ala)
5g.162149240A>GCA362182577GABRG2c.1056A>G
c.1175A>G (p.Glu392Gly)
c.1138A>G
n.309A>G
c.770A>G (p.Glu257Gly)
c.1055A>G (p.Glu352Gly)
c.932A>G
c.446A>G (p.Glu149Gly)
c.983A>G (p.Glu328Gly)
c.*255A>G (n.*255A>G)
c.989A>G (p.Glu330Gly)
n.353A>G
n.3586A>G
c.493A>G
c.968A>G (p.Glu323Gly)
c.*657A>G (n.*657A>G)
c.1176A>G (n.1176A>G)
c.1046A>G (p.Glu349Gly)
c.923-2490A>G (n.923-2490A>G)
c.1052A>G (p.Glu351Gly)
c.1094A>G (p.Glu365Gly)
c.635A>G (p.Glu212Gly)
5g.162149240A>TCA362182578GABRG2c.1056A>T
c.1175A>T (p.Glu392Val)
c.1138A>T
n.309A>T
c.770A>T (p.Glu257Val)
c.1055A>T (p.Glu352Val)
c.932A>T
c.446A>T (p.Glu149Val)
c.983A>T (p.Glu328Val)
c.*255A>T (n.*255A>T)
c.989A>T (p.Glu330Val)
n.353A>T
n.3586A>T
c.493A>T
c.968A>T (p.Glu323Val)
c.*657A>T (n.*657A>T)
c.1176A>T (n.1176A>T)
c.1046A>T (p.Glu349Val)
c.923-2490A>T (n.923-2490A>T)
c.1052A>T (p.Glu351Val)
c.1094A>T (p.Glu365Val)
c.635A>T (p.Glu212Val)
 gnomAD v4
5g.162149241G>ACA447610314GABRG2c.1057G>A
c.1176G>A (p.Glu392=)
c.1139G>A
n.310G>A
c.771G>A (p.Glu257=)
c.1056G>A (p.Glu352=)
c.933G>A
c.447G>A (p.Glu149=)
c.984G>A (p.Glu328=)
c.*256G>A (n.*256G>A)
c.990G>A (p.Glu330=)
n.354G>A
n.3587G>A
c.494G>A
c.969G>A (p.Glu323=)
c.*658G>A (n.*658G>A)
c.1177G>A (n.1177G>A)
c.1047G>A (p.Glu349=)
c.923-2489G>A (n.923-2489G>A)
c.1053G>A (p.Glu351=)
c.1095G>A (p.Glu365=)
c.636G>A (p.Glu212=)
 ClinVar dbSNP gnomAD v4
5g.162149241G>CCA362182579GABRG2c.1057G>C
c.1176G>C (p.Glu392Asp)
c.1139G>C
n.310G>C
c.771G>C (p.Glu257Asp)
c.1056G>C (p.Glu352Asp)
c.933G>C
c.447G>C (p.Glu149Asp)
c.984G>C (p.Glu328Asp)
c.*256G>C (n.*256G>C)
c.990G>C (p.Glu330Asp)
n.354G>C
n.3587G>C
c.494G>C
c.969G>C (p.Glu323Asp)
c.*658G>C (n.*658G>C)
c.1177G>C (n.1177G>C)
c.1047G>C (p.Glu349Asp)
c.923-2489G>C (n.923-2489G>C)
c.1053G>C (p.Glu351Asp)
c.1095G>C (p.Glu365Asp)
c.636G>C (p.Glu212Asp)
5g.162149241G>TCA362182580GABRG2c.1057G>T
c.1176G>T (p.Glu392Asp)
c.1139G>T
n.310G>T
c.771G>T (p.Glu257Asp)
c.1056G>T (p.Glu352Asp)
c.933G>T
c.447G>T (p.Glu149Asp)
c.984G>T (p.Glu328Asp)
c.*256G>T (n.*256G>T)
c.990G>T (p.Glu330Asp)
n.354G>T
n.3587G>T
c.494G>T
c.969G>T (p.Glu323Asp)
c.*658G>T (n.*658G>T)
c.1177G>T (n.1177G>T)
c.1047G>T (p.Glu349Asp)
c.923-2489G>T (n.923-2489G>T)
c.1053G>T (p.Glu351Asp)
c.1095G>T (p.Glu365Asp)
c.636G>T (p.Glu212Asp)
5g.162149242T>ACA362182581GABRG2c.1058T>A
c.1177T>A (p.Tyr393Asn)
c.1140T>A
n.311T>A
c.772T>A (p.Tyr258Asn)
c.1057T>A (p.Tyr353Asn)
c.934T>A
c.448T>A (p.Tyr150Asn)
c.985T>A (p.Tyr329Asn)
c.*257T>A (n.*257T>A)
c.991T>A (p.Tyr331Asn)
n.355T>A
n.3588T>A
c.495T>A
c.970T>A (p.Tyr324Asn)
c.*659T>A (n.*659T>A)
c.1178T>A (n.1178T>A)
c.1048T>A (p.Tyr350Asn)
c.923-2488T>A (n.923-2488T>A)
c.1054T>A (p.Tyr352Asn)
c.1096T>A (p.Tyr366Asn)
c.637T>A (p.Tyr213Asn)
5g.162149242T>CCA362182582GABRG2c.1058T>C
c.1177T>C (p.Tyr393His)
c.1140T>C
n.311T>C
c.772T>C (p.Tyr258His)
c.1057T>C (p.Tyr353His)
c.934T>C
c.448T>C (p.Tyr150His)
c.985T>C (p.Tyr329His)
c.*257T>C (n.*257T>C)
c.991T>C (p.Tyr331His)
n.355T>C
n.3588T>C
c.495T>C
c.970T>C (p.Tyr324His)
c.*659T>C (n.*659T>C)
c.1178T>C (n.1178T>C)
c.1048T>C (p.Tyr350His)
c.923-2488T>C (n.923-2488T>C)
c.1054T>C (p.Tyr352His)
c.1096T>C (p.Tyr366His)
c.637T>C (p.Tyr213His)
 ClinVar
5g.162149242T>GCA362182583GABRG2c.1058T>G
c.1177T>G (p.Tyr393Asp)
c.1140T>G
n.311T>G
c.772T>G (p.Tyr258Asp)
c.1057T>G (p.Tyr353Asp)
c.934T>G
c.448T>G (p.Tyr150Asp)
c.985T>G (p.Tyr329Asp)
c.*257T>G (n.*257T>G)
c.991T>G (p.Tyr331Asp)
n.355T>G
n.3588T>G
c.495T>G
c.970T>G (p.Tyr324Asp)
c.*659T>G (n.*659T>G)
c.1178T>G (n.1178T>G)
c.1048T>G (p.Tyr350Asp)
c.923-2488T>G (n.923-2488T>G)
c.1054T>G (p.Tyr352Asp)
c.1096T>G (p.Tyr366Asp)
c.637T>G (p.Tyr213Asp)
5g.162149243A>CCA362182584GABRG2c.1059A>C
c.1178A>C (p.Tyr393Ser)
c.1141A>C
n.312A>C
c.773A>C (p.Tyr258Ser)
c.1058A>C (p.Tyr353Ser)
c.935A>C
c.449A>C (p.Tyr150Ser)
c.986A>C (p.Tyr329Ser)
c.*258A>C (n.*258A>C)
c.992A>C (p.Tyr331Ser)
n.356A>C
n.3589A>C
c.496A>C
c.971A>C (p.Tyr324Ser)
c.*660A>C (n.*660A>C)
c.1179A>C (n.1179A>C)
c.1049A>C (p.Tyr350Ser)
c.923-2487A>C (n.923-2487A>C)
c.1055A>C (p.Tyr352Ser)
c.1097A>C (p.Tyr366Ser)
c.638A>C (p.Tyr213Ser)
5g.162149243A>GCA362182585GABRG2c.1059A>G
c.1178A>G (p.Tyr393Cys)
c.1141A>G
n.312A>G
c.773A>G (p.Tyr258Cys)
c.1058A>G (p.Tyr353Cys)
c.935A>G
c.449A>G (p.Tyr150Cys)
c.986A>G (p.Tyr329Cys)
c.*258A>G (n.*258A>G)
c.992A>G (p.Tyr331Cys)
n.356A>G
n.3589A>G
c.496A>G
c.971A>G (p.Tyr324Cys)
c.*660A>G (n.*660A>G)
c.1179A>G (n.1179A>G)
c.1049A>G (p.Tyr350Cys)
c.923-2487A>G (n.923-2487A>G)
c.1055A>G (p.Tyr352Cys)
c.1097A>G (p.Tyr366Cys)
c.638A>G (p.Tyr213Cys)
5g.162149243A>TCA362182586GABRG2c.1059A>T
c.1178A>T (p.Tyr393Phe)
c.1141A>T
n.312A>T
c.773A>T (p.Tyr258Phe)
c.1058A>T (p.Tyr353Phe)
c.935A>T
c.449A>T (p.Tyr150Phe)
c.986A>T (p.Tyr329Phe)
c.*258A>T (n.*258A>T)
c.992A>T (p.Tyr331Phe)
n.356A>T
n.3589A>T
c.496A>T
c.971A>T (p.Tyr324Phe)
c.*660A>T (n.*660A>T)
c.1179A>T (n.1179A>T)
c.1049A>T (p.Tyr350Phe)
c.923-2487A>T (n.923-2487A>T)
c.1055A>T (p.Tyr352Phe)
c.1097A>T (p.Tyr366Phe)
c.638A>T (p.Tyr213Phe)
5g.162149244T>ACA362182587GABRG2c.1060T>A
c.1179T>A (p.Tyr393Ter)
c.1142T>A
n.313T>A
c.774T>A (p.Tyr258Ter)
c.1059T>A (p.Tyr353Ter)
c.936T>A
c.450T>A (p.Tyr150Ter)
c.987T>A (p.Tyr329Ter)
c.*259T>A (n.*259T>A)
c.993T>A (p.Tyr331Ter)
n.357T>A
n.3590T>A
c.497T>A
c.972T>A (p.Tyr324Ter)
c.*661T>A (n.*661T>A)
c.1180T>A (n.1180T>A)
c.1050T>A (p.Tyr350Ter)
c.923-2486T>A (n.923-2486T>A)
c.1056T>A (p.Tyr352Ter)
c.1098T>A (p.Tyr366Ter)
c.639T>A (p.Tyr213Ter)
5g.162149244T>CCA447610315GABRG2c.1060T>C
c.1179T>C (p.Tyr393=)
c.1142T>C
n.313T>C
c.774T>C (p.Tyr258=)
c.1059T>C (p.Tyr353=)
c.936T>C
c.450T>C (p.Tyr150=)
c.987T>C (p.Tyr329=)
c.*259T>C (n.*259T>C)
c.993T>C (p.Tyr331=)
n.357T>C
n.3590T>C
c.497T>C
c.972T>C (p.Tyr324=)
c.*661T>C (n.*661T>C)
c.1180T>C (n.1180T>C)
c.1050T>C (p.Tyr350=)
c.923-2486T>C (n.923-2486T>C)
c.1056T>C (p.Tyr352=)
c.1098T>C (p.Tyr366=)
c.639T>C (p.Tyr213=)
5g.162149244T>GCA362182588GABRG2c.1060T>G
c.1179T>G (p.Tyr393Ter)
c.1142T>G
n.313T>G
c.774T>G (p.Tyr258Ter)
c.1059T>G (p.Tyr353Ter)
c.936T>G
c.450T>G (p.Tyr150Ter)
c.987T>G (p.Tyr329Ter)
c.*259T>G (n.*259T>G)
c.993T>G (p.Tyr331Ter)
n.357T>G
n.3590T>G
c.497T>G
c.972T>G (p.Tyr324Ter)
c.*661T>G (n.*661T>G)
c.1180T>G (n.1180T>G)
c.1050T>G (p.Tyr350Ter)
c.923-2486T>G (n.923-2486T>G)
c.1056T>G (p.Tyr352Ter)
c.1098T>G (p.Tyr366Ter)
c.639T>G (p.Tyr213Ter)
5g.162149245G>ACA362182589GABRG2c.1061G>A
c.1180G>A (p.Gly394Ser)
c.1143G>A
n.314G>A
c.775G>A (p.Gly259Ser)
c.1060G>A (p.Gly354Ser)
c.937G>A
c.451G>A (p.Gly151Ser)
c.988G>A (p.Gly330Ser)
c.*260G>A (n.*260G>A)
c.994G>A (p.Gly332Ser)
n.358G>A
n.3591G>A
c.498G>A
c.973G>A (p.Gly325Ser)
c.*662G>A (n.*662G>A)
c.1181G>A (n.1181G>A)
c.1051G>A (p.Gly351Ser)
c.923-2485G>A (n.923-2485G>A)
c.1057G>A (p.Gly353Ser)
c.1099G>A (p.Gly367Ser)
c.640G>A (p.Gly214Ser)
 gnomAD v4
5g.162149245G>CCA362182591GABRG2c.1061G>C
c.1180G>C (p.Gly394Arg)
c.1143G>C
n.314G>C
c.775G>C (p.Gly259Arg)
c.1060G>C (p.Gly354Arg)
c.937G>C
c.451G>C (p.Gly151Arg)
c.988G>C (p.Gly330Arg)
c.*260G>C (n.*260G>C)
c.994G>C (p.Gly332Arg)
n.358G>C
n.3591G>C
c.498G>C
c.973G>C (p.Gly325Arg)
c.*662G>C (n.*662G>C)
c.1181G>C (n.1181G>C)
c.1051G>C (p.Gly351Arg)
c.923-2485G>C (n.923-2485G>C)
c.1057G>C (p.Gly353Arg)
c.1099G>C (p.Gly367Arg)
c.640G>C (p.Gly214Arg)
 dbSNP
5g.162149245G=CA1596380272GABRG2c.1061G=
c.1180G= (p.Gly394=)
c.1143G=
n.314G=
c.775G= (p.Gly259=)
c.1060G= (p.Gly354=)
c.937G=
c.451G= (p.Gly151=)
c.988G= (p.Gly330=)
c.*260G= (n.*260G=)
c.994G= (p.Gly332=)
n.358G=
n.3591G=
c.498G=
c.973G= (p.Gly325=)
c.*662G= (n.*662G=)
c.1181G= (n.1181G=)
c.1051G= (p.Gly351=)
c.923-2485G= (n.923-2485G=)
c.1057G= (p.Gly353=)
c.1099G= (p.Gly367=)
c.640G= (p.Gly214=)
5g.162149245G>TCA362182590GABRG2c.1061G>T
c.1180G>T (p.Gly394Cys)
c.1143G>T
n.314G>T
c.775G>T (p.Gly259Cys)
c.1060G>T (p.Gly354Cys)
c.937G>T
c.451G>T (p.Gly151Cys)
c.988G>T (p.Gly330Cys)
c.*260G>T (n.*260G>T)
c.994G>T (p.Gly332Cys)
n.358G>T
n.3591G>T
c.498G>T
c.973G>T (p.Gly325Cys)
c.*662G>T (n.*662G>T)
c.1181G>T (n.1181G>T)
c.1051G>T (p.Gly351Cys)
c.923-2485G>T (n.923-2485G>T)
c.1057G>T (p.Gly353Cys)
c.1099G>T (p.Gly367Cys)
c.640G>T (p.Gly214Cys)
5g.162149246G>ACA362182592GABRG2c.1062G>A
c.1181G>A (p.Gly394Asp)
c.1144G>A
n.315G>A
c.776G>A (p.Gly259Asp)
c.1061G>A (p.Gly354Asp)
c.938G>A
c.452G>A (p.Gly151Asp)
c.989G>A (p.Gly330Asp)
c.*261G>A (n.*261G>A)
c.995G>A (p.Gly332Asp)
n.359G>A
n.3592G>A
c.499G>A
c.974G>A (p.Gly325Asp)
c.*663G>A (n.*663G>A)
c.1182G>A (n.1182G>A)
c.1052G>A (p.Gly351Asp)
c.923-2484G>A (n.923-2484G>A)
c.1058G>A (p.Gly353Asp)
c.1100G>A (p.Gly367Asp)
c.641G>A (p.Gly214Asp)
5g.162149246G>CCA362182593GABRG2c.1062G>C
c.1181G>C (p.Gly394Ala)
c.1144G>C
n.315G>C
c.776G>C (p.Gly259Ala)
c.1061G>C (p.Gly354Ala)
c.938G>C
c.452G>C (p.Gly151Ala)
c.989G>C (p.Gly330Ala)
c.*261G>C (n.*261G>C)
c.995G>C (p.Gly332Ala)
n.359G>C
n.3592G>C
c.499G>C
c.974G>C (p.Gly325Ala)
c.*663G>C (n.*663G>C)
c.1182G>C (n.1182G>C)
c.1052G>C (p.Gly351Ala)
c.923-2484G>C (n.923-2484G>C)
c.1058G>C (p.Gly353Ala)
c.1100G>C (p.Gly367Ala)
c.641G>C (p.Gly214Ala)
5g.162149246G=CA1596380273GABRG2c.1062G=
c.1181G= (p.Gly394=)
c.1144G=
n.315G=
c.776G= (p.Gly259=)
c.1061G= (p.Gly354=)
c.938G=
c.452G= (p.Gly151=)
c.989G= (p.Gly330=)
c.*261G= (n.*261G=)
c.995G= (p.Gly332=)
n.359G=
n.3592G=
c.499G=
c.974G= (p.Gly325=)
c.*663G= (n.*663G=)
c.1182G= (n.1182G=)
c.1052G= (p.Gly351=)
c.923-2484G= (n.923-2484G=)
c.1058G= (p.Gly353=)
c.1100G= (p.Gly367=)
c.641G= (p.Gly214=)
5g.162149246G>TCA16612028GABRG2c.1062G>T
c.1181G>T (p.Gly394Val)
c.1144G>T
n.315G>T
c.776G>T (p.Gly259Val)
c.1061G>T (p.Gly354Val)
c.938G>T
c.452G>T (p.Gly151Val)
c.989G>T (p.Gly330Val)
c.*261G>T (n.*261G>T)
c.995G>T (p.Gly332Val)
n.359G>T
n.3592G>T
c.499G>T
c.974G>T (p.Gly325Val)
c.*663G>T (n.*663G>T)
c.1182G>T (n.1182G>T)
c.1052G>T (p.Gly351Val)
c.923-2484G>T (n.923-2484G>T)
c.1058G>T (p.Gly353Val)
c.1100G>T (p.Gly367Val)
c.641G>T (p.Gly214Val)
 ClinVar dbSNP
5g.162149247C>ACA447610316GABRG2c.1063C>A
c.1182C>A (p.Gly394=)
c.1145C>A
n.316C>A
c.777C>A (p.Gly259=)
c.1062C>A (p.Gly354=)
c.939C>A
c.453C>A (p.Gly151=)
c.990C>A (p.Gly330=)
c.*262C>A (n.*262C>A)
c.996C>A (p.Gly332=)
n.360C>A
n.3593C>A
c.500C>A
c.975C>A (p.Gly325=)
c.*664C>A (n.*664C>A)
c.1183C>A (n.1183C>A)
c.1053C>A (p.Gly351=)
c.923-2483C>A (n.923-2483C>A)
c.1059C>A (p.Gly353=)
c.1101C>A (p.Gly367=)
c.642C>A (p.Gly214=)
5g.162149247C=CA1596380274GABRG2c.1063C=
c.1182C= (p.Gly394=)
c.1145C=
n.316C=
c.777C= (p.Gly259=)
c.1062C= (p.Gly354=)
c.939C=
c.453C= (p.Gly151=)
c.990C= (p.Gly330=)
c.*262C= (n.*262C=)
c.996C= (p.Gly332=)
n.360C=
n.3593C=
c.500C=
c.975C= (p.Gly325=)
c.*664C= (n.*664C=)
c.1183C= (n.1183C=)
c.1053C= (p.Gly351=)
c.923-2483C= (n.923-2483C=)
c.1059C= (p.Gly353=)
c.1101C= (p.Gly367=)
c.642C= (p.Gly214=)
5g.162149247C>GCA447610317GABRG2c.1063C>G
c.1182C>G (p.Gly394=)
c.1145C>G
n.316C>G
c.777C>G (p.Gly259=)
c.1062C>G (p.Gly354=)
c.939C>G
c.453C>G (p.Gly151=)
c.990C>G (p.Gly330=)
c.*262C>G (n.*262C>G)
c.996C>G (p.Gly332=)
n.360C>G
n.3593C>G
c.500C>G
c.975C>G (p.Gly325=)
c.*664C>G (n.*664C>G)
c.1183C>G (n.1183C>G)
c.1053C>G (p.Gly351=)
c.923-2483C>G (n.923-2483C>G)
c.1059C>G (p.Gly353=)
c.1101C>G (p.Gly367=)
c.642C>G (p.Gly214=)
 dbSNP gnomAD v3 gnomAD v4
5g.162149247C>TCA447610318GABRG2c.1063C>T
c.1182C>T (p.Gly394=)
c.1145C>T
n.316C>T
c.777C>T (p.Gly259=)
c.1062C>T (p.Gly354=)
c.939C>T
c.453C>T (p.Gly151=)
c.990C>T (p.Gly330=)
c.*262C>T (n.*262C>T)
c.996C>T (p.Gly332=)
n.360C>T
n.3593C>T
c.500C>T
c.975C>T (p.Gly325=)
c.*664C>T (n.*664C>T)
c.1183C>T (n.1183C>T)
c.1053C>T (p.Gly351=)
c.923-2483C>T (n.923-2483C>T)
c.1059C>T (p.Gly353=)
c.1101C>T (p.Gly367=)
c.642C>T (p.Gly214=)
 dbSNP gnomAD v2
5g.162149248A>CCA362182594GABRG2c.1064A>C
c.1183A>C (p.Thr395Pro)
c.1146A>C
n.317A>C
c.778A>C (p.Thr260Pro)
c.1063A>C (p.Thr355Pro)
c.940A>C
c.454A>C (p.Thr152Pro)
c.991A>C (p.Thr331Pro)
c.*263A>C (n.*263A>C)
c.997A>C (p.Thr333Pro)
n.361A>C
n.3594A>C
c.501A>C
c.976A>C (p.Thr326Pro)
c.*665A>C (n.*665A>C)
c.1184A>C (n.1184A>C)
c.1054A>C (p.Thr352Pro)
c.923-2482A>C (n.923-2482A>C)
c.1060A>C (p.Thr354Pro)
c.1102A>C (p.Thr368Pro)
c.643A>C (p.Thr215Pro)
5g.162149248A>GCA362182595GABRG2c.1064A>G
c.1183A>G (p.Thr395Ala)
c.1146A>G
n.317A>G
c.778A>G (p.Thr260Ala)
c.1063A>G (p.Thr355Ala)
c.940A>G
c.454A>G (p.Thr152Ala)
c.991A>G (p.Thr331Ala)
c.*263A>G (n.*263A>G)
c.997A>G (p.Thr333Ala)
n.361A>G
n.3594A>G
c.501A>G
c.976A>G (p.Thr326Ala)
c.*665A>G (n.*665A>G)
c.1184A>G (n.1184A>G)
c.1054A>G (p.Thr352Ala)
c.923-2482A>G (n.923-2482A>G)
c.1060A>G (p.Thr354Ala)
c.1102A>G (p.Thr368Ala)
c.643A>G (p.Thr215Ala)
5g.162149248A>TCA362182596GABRG2c.1064A>T
c.1183A>T (p.Thr395Ser)
c.1146A>T
n.317A>T
c.778A>T (p.Thr260Ser)
c.1063A>T (p.Thr355Ser)
c.940A>T
c.454A>T (p.Thr152Ser)
c.991A>T (p.Thr331Ser)
c.*263A>T (n.*263A>T)
c.997A>T (p.Thr333Ser)
n.361A>T
n.3594A>T
c.501A>T
c.976A>T (p.Thr326Ser)
c.*665A>T (n.*665A>T)
c.1184A>T (n.1184A>T)
c.1054A>T (p.Thr352Ser)
c.923-2482A>T (n.923-2482A>T)
c.1060A>T (p.Thr354Ser)
c.1102A>T (p.Thr368Ser)
c.643A>T (p.Thr215Ser)
5g.162149249C>ACA362182597GABRG2c.1065C>A
c.1184C>A (p.Thr395Asn)
c.1147C>A
n.318C>A
c.779C>A (p.Thr260Asn)
c.1064C>A (p.Thr355Asn)
c.941C>A
c.455C>A (p.Thr152Asn)
c.992C>A (p.Thr331Asn)
c.*264C>A (n.*264C>A)
c.998C>A (p.Thr333Asn)
n.362C>A
n.3595C>A
c.502C>A
c.977C>A (p.Thr326Asn)
c.*666C>A (n.*666C>A)
c.1185C>A (n.1185C>A)
c.1055C>A (p.Thr352Asn)
c.923-2481C>A (n.923-2481C>A)
c.1061C>A (p.Thr354Asn)
c.1103C>A (p.Thr368Asn)
c.644C>A (p.Thr215Asn)
5g.162149249C>GCA362182598GABRG2c.1065C>G
c.1184C>G (p.Thr395Ser)
c.1147C>G
n.318C>G
c.779C>G (p.Thr260Ser)
c.1064C>G (p.Thr355Ser)
c.941C>G
c.455C>G (p.Thr152Ser)
c.992C>G (p.Thr331Ser)
c.*264C>G (n.*264C>G)
c.998C>G (p.Thr333Ser)
n.362C>G
n.3595C>G
c.502C>G
c.977C>G (p.Thr326Ser)
c.*666C>G (n.*666C>G)
c.1185C>G (n.1185C>G)
c.1055C>G (p.Thr352Ser)
c.923-2481C>G (n.923-2481C>G)
c.1061C>G (p.Thr354Ser)
c.1103C>G (p.Thr368Ser)
c.644C>G (p.Thr215Ser)
5g.162149249C>TCA362182599GABRG2c.1065C>T
c.1184C>T (p.Thr395Ile)
c.1147C>T
n.318C>T
c.779C>T (p.Thr260Ile)
c.1064C>T (p.Thr355Ile)
c.941C>T
c.455C>T (p.Thr152Ile)
c.992C>T (p.Thr331Ile)
c.*264C>T (n.*264C>T)
c.998C>T (p.Thr333Ile)
n.362C>T
n.3595C>T
c.502C>T
c.977C>T (p.Thr326Ile)
c.*666C>T (n.*666C>T)
c.1185C>T (n.1185C>T)
c.1055C>T (p.Thr352Ile)
c.923-2481C>T (n.923-2481C>T)
c.1061C>T (p.Thr354Ile)
c.1103C>T (p.Thr368Ile)
c.644C>T (p.Thr215Ile)
5g.162149250C>ACA447610319GABRG2c.1066C>A
c.1185C>A (p.Thr395=)
c.1148C>A
n.319C>A
c.780C>A (p.Thr260=)
c.1065C>A (p.Thr355=)
c.942C>A
c.456C>A (p.Thr152=)
c.993C>A (p.Thr331=)
c.*265C>A (n.*265C>A)
c.999C>A (p.Thr333=)
n.363C>A
n.3596C>A
c.503C>A
c.978C>A (p.Thr326=)
c.*667C>A (n.*667C>A)
c.1186C>A (n.1186C>A)
c.1056C>A (p.Thr352=)
c.923-2480C>A (n.923-2480C>A)
c.1062C>A (p.Thr354=)
c.1104C>A (p.Thr368=)
c.645C>A (p.Thr215=)
5g.162149250C>GCA447610321GABRG2c.1066C>G
c.1185C>G (p.Thr395=)
c.1148C>G
n.319C>G
c.780C>G (p.Thr260=)
c.1065C>G (p.Thr355=)
c.942C>G
c.456C>G (p.Thr152=)
c.993C>G (p.Thr331=)
c.*265C>G (n.*265C>G)
c.999C>G (p.Thr333=)
n.363C>G
n.3596C>G
c.503C>G
c.978C>G (p.Thr326=)
c.*667C>G (n.*667C>G)
c.1186C>G (n.1186C>G)
c.1056C>G (p.Thr352=)
c.923-2480C>G (n.923-2480C>G)
c.1062C>G (p.Thr354=)
c.1104C>G (p.Thr368=)
c.645C>G (p.Thr215=)
5g.162149250C>TCA447610320GABRG2c.1066C>T
c.1185C>T (p.Thr395=)
c.1148C>T
n.319C>T
c.780C>T (p.Thr260=)
c.1065C>T (p.Thr355=)
c.942C>T
c.456C>T (p.Thr152=)
c.993C>T (p.Thr331=)
c.*265C>T (n.*265C>T)
c.999C>T (p.Thr333=)
n.363C>T
n.3596C>T
c.503C>T
c.978C>T (p.Thr326=)
c.*667C>T (n.*667C>T)
c.1186C>T (n.1186C>T)
c.1056C>T (p.Thr352=)
c.923-2480C>T (n.923-2480C>T)
c.1062C>T (p.Thr354=)
c.1104C>T (p.Thr368=)
c.645C>T (p.Thr215=)
 gnomAD v4
5g.162149251T>ACA362182600GABRG2c.1067T>A
c.1186T>A (p.Leu396Met)
c.1149T>A
n.320T>A
c.781T>A (p.Leu261Met)
c.1066T>A (p.Leu356Met)
c.943T>A
c.457T>A (p.Leu153Met)
c.994T>A (p.Leu332Met)
c.*266T>A (n.*266T>A)
c.1000T>A (p.Leu334Met)
n.364T>A
n.3597T>A
c.504T>A
c.979T>A (p.Leu327Met)
c.*668T>A (n.*668T>A)
c.1187T>A (n.1187T>A)
c.1057T>A (p.Leu353Met)
c.923-2479T>A (n.923-2479T>A)
c.1063T>A (p.Leu355Met)
c.1105T>A (p.Leu369Met)
c.646T>A (p.Leu216Met)
 COSMIC
5g.162149251T>CCA447610322GABRG2c.1067T>C
c.1186T>C (p.Leu396=)
c.1149T>C
n.320T>C
c.781T>C (p.Leu261=)
c.1066T>C (p.Leu356=)
c.943T>C
c.457T>C (p.Leu153=)
c.994T>C (p.Leu332=)
c.*266T>C (n.*266T>C)
c.1000T>C (p.Leu334=)
n.364T>C
n.3597T>C
c.504T>C
c.979T>C (p.Leu327=)
c.*668T>C (n.*668T>C)
c.1187T>C (n.1187T>C)
c.1057T>C (p.Leu353=)
c.923-2479T>C (n.923-2479T>C)
c.1063T>C (p.Leu355=)
c.1105T>C (p.Leu369=)
c.646T>C (p.Leu216=)
5g.162149251T>GCA362182601GABRG2c.1067T>G
c.1186T>G (p.Leu396Val)
c.1149T>G
n.320T>G
c.781T>G (p.Leu261Val)
c.1066T>G (p.Leu356Val)
c.943T>G
c.457T>G (p.Leu153Val)
c.994T>G (p.Leu332Val)
c.*266T>G (n.*266T>G)
c.1000T>G (p.Leu334Val)
n.364T>G
n.3597T>G
c.504T>G
c.979T>G (p.Leu327Val)
c.*668T>G (n.*668T>G)
c.1187T>G (n.1187T>G)
c.1057T>G (p.Leu353Val)
c.923-2479T>G (n.923-2479T>G)
c.1063T>G (p.Leu355Val)
c.1105T>G (p.Leu369Val)
c.646T>G (p.Leu216Val)
5g.162149252T>ACA362182603GABRG2c.1068T>A
c.1187T>A (p.Leu396Ter)
c.1150T>A
n.321T>A
c.782T>A (p.Leu261Ter)
c.1067T>A (p.Leu356Ter)
c.944T>A
c.458T>A (p.Leu153Ter)
c.995T>A (p.Leu332Ter)
c.*267T>A (n.*267T>A)
c.1001T>A (p.Leu334Ter)
n.365T>A
n.3598T>A
c.505T>A
c.980T>A (p.Leu327Ter)
c.*669T>A (n.*669T>A)
c.1188T>A (n.1188T>A)
c.1058T>A (p.Leu353Ter)
c.923-2478T>A (n.923-2478T>A)
c.1064T>A (p.Leu355Ter)
c.1106T>A (p.Leu369Ter)
c.647T>A (p.Leu216Ter)
5g.162149252T>CCA362182604GABRG2c.1068T>C
c.1187T>C (p.Leu396Ser)
c.1150T>C
n.321T>C
c.782T>C (p.Leu261Ser)
c.1067T>C (p.Leu356Ser)
c.944T>C
c.458T>C (p.Leu153Ser)
c.995T>C (p.Leu332Ser)
c.*267T>C (n.*267T>C)
c.1001T>C (p.Leu334Ser)
n.365T>C
n.3598T>C
c.505T>C
c.980T>C (p.Leu327Ser)
c.*669T>C (n.*669T>C)
c.1188T>C (n.1188T>C)
c.1058T>C (p.Leu353Ser)
c.923-2478T>C (n.923-2478T>C)
c.1064T>C (p.Leu355Ser)
c.1106T>C (p.Leu369Ser)
c.647T>C (p.Leu216Ser)
5g.162149252T>GCA362182602GABRG2c.1068T>G
c.1187T>G (p.Leu396Trp)
c.1150T>G
n.321T>G
c.782T>G (p.Leu261Trp)
c.1067T>G (p.Leu356Trp)
c.944T>G
c.458T>G (p.Leu153Trp)
c.995T>G (p.Leu332Trp)
c.*267T>G (n.*267T>G)
c.1001T>G (p.Leu334Trp)
n.365T>G
n.3598T>G
c.505T>G
c.980T>G (p.Leu327Trp)
c.*669T>G (n.*669T>G)
c.1188T>G (n.1188T>G)
c.1058T>G (p.Leu353Trp)
c.923-2478T>G (n.923-2478T>G)
c.1064T>G (p.Leu355Trp)
c.1106T>G (p.Leu369Trp)
c.647T>G (p.Leu216Trp)
5g.162149253G>ACA447610323GABRG2c.1069G>A
c.1188G>A (p.Leu396=)
c.1151G>A
n.322G>A
c.783G>A (p.Leu261=)
c.1068G>A (p.Leu356=)
c.945G>A
c.459G>A (p.Leu153=)
c.996G>A (p.Leu332=)
c.*268G>A (n.*268G>A)
c.1002G>A (p.Leu334=)
n.366G>A
n.3599G>A
c.506G>A
c.981G>A (p.Leu327=)
c.*670G>A (n.*670G>A)
c.1189G>A (n.1189G>A)
c.1059G>A (p.Leu353=)
c.923-2477G>A (n.923-2477G>A)
c.1065G>A (p.Leu355=)
c.1107G>A (p.Leu369=)
c.648G>A (p.Leu216=)
5g.162149253G>CCA362182605GABRG2c.1069G>C
c.1188G>C (p.Leu396Phe)
c.1151G>C
n.322G>C
c.783G>C (p.Leu261Phe)
c.1068G>C (p.Leu356Phe)
c.945G>C
c.459G>C (p.Leu153Phe)
c.996G>C (p.Leu332Phe)
c.*268G>C (n.*268G>C)
c.1002G>C (p.Leu334Phe)
n.366G>C
n.3599G>C
c.506G>C
c.981G>C (p.Leu327Phe)
c.*670G>C (n.*670G>C)
c.1189G>C (n.1189G>C)
c.1059G>C (p.Leu353Phe)
c.923-2477G>C (n.923-2477G>C)
c.1065G>C (p.Leu355Phe)
c.1107G>C (p.Leu369Phe)
c.648G>C (p.Leu216Phe)
5g.162149253G>TCA362182606GABRG2c.1069G>T
c.1188G>T (p.Leu396Phe)
c.1151G>T
n.322G>T
c.783G>T (p.Leu261Phe)
c.1068G>T (p.Leu356Phe)
c.945G>T
c.459G>T (p.Leu153Phe)
c.996G>T (p.Leu332Phe)
c.*268G>T (n.*268G>T)
c.1002G>T (p.Leu334Phe)
n.366G>T
n.3599G>T
c.506G>T
c.981G>T (p.Leu327Phe)
c.*670G>T (n.*670G>T)
c.1189G>T (n.1189G>T)
c.1059G>T (p.Leu353Phe)
c.923-2477G>T (n.923-2477G>T)
c.1065G>T (p.Leu355Phe)
c.1107G>T (p.Leu369Phe)
c.648G>T (p.Leu216Phe)
5g.162149254C>ACA362182607GABRG2c.1070C>A
c.1189C>A (p.His397Asn)
c.1152C>A
n.323C>A
c.784C>A (p.His262Asn)
c.1069C>A (p.His357Asn)
c.946C>A
c.460C>A (p.His154Asn)
c.997C>A (p.His333Asn)
c.*269C>A (n.*269C>A)
c.1003C>A (p.His335Asn)
n.367C>A
n.3600C>A
c.507C>A
c.982C>A (p.His328Asn)
c.*671C>A (n.*671C>A)
c.1190C>A (n.1190C>A)
c.1060C>A (p.His354Asn)
c.923-2476C>A (n.923-2476C>A)
c.1066C>A (p.His356Asn)
c.1108C>A (p.His370Asn)
c.649C>A (p.His217Asn)
5g.162149254C>GCA362182608GABRG2c.1070C>G
c.1189C>G (p.His397Asp)
c.1152C>G
n.323C>G
c.784C>G (p.His262Asp)
c.1069C>G (p.His357Asp)
c.946C>G
c.460C>G (p.His154Asp)
c.997C>G (p.His333Asp)
c.*269C>G (n.*269C>G)
c.1003C>G (p.His335Asp)
n.367C>G
n.3600C>G
c.507C>G
c.982C>G (p.His328Asp)
c.*671C>G (n.*671C>G)
c.1190C>G (n.1190C>G)
c.1060C>G (p.His354Asp)
c.923-2476C>G (n.923-2476C>G)
c.1066C>G (p.His356Asp)
c.1108C>G (p.His370Asp)
c.649C>G (p.His217Asp)
5g.162149254C>TCA362182609GABRG2c.1070C>T
c.1189C>T (p.His397Tyr)
c.1152C>T
n.323C>T
c.784C>T (p.His262Tyr)
c.1069C>T (p.His357Tyr)
c.946C>T
c.460C>T (p.His154Tyr)
c.997C>T (p.His333Tyr)
c.*269C>T (n.*269C>T)
c.1003C>T (p.His335Tyr)
n.367C>T
n.3600C>T
c.507C>T
c.982C>T (p.His328Tyr)
c.*671C>T (n.*671C>T)
c.1190C>T (n.1190C>T)
c.1060C>T (p.His354Tyr)
c.923-2476C>T (n.923-2476C>T)
c.1066C>T (p.His356Tyr)
c.1108C>T (p.His370Tyr)
c.649C>T (p.His217Tyr)
5g.162149255A=CA1596380275GABRG2c.1071A=
c.1190A= (p.His397=)
c.1153A=
n.324A=
c.785A= (p.His262=)
c.1070A= (p.His357=)
c.947A=
c.461A= (p.His154=)
c.998A= (p.His333=)
c.*270A= (n.*270A=)
c.1004A= (p.His335=)
n.368A=
n.3601A=
c.508A=
c.983A= (p.His328=)
c.*672A= (n.*672A=)
c.1191A= (n.1191A=)
c.1061A= (p.His354=)
c.923-2475A= (n.923-2475A=)
c.1067A= (p.His356=)
c.1109A= (p.His370=)
c.650A= (p.His217=)
5g.162149255A>CCA362182610GABRG2c.1071A>C
c.1190A>C (p.His397Pro)
c.1153A>C
n.324A>C
c.785A>C (p.His262Pro)
c.1070A>C (p.His357Pro)
c.947A>C
c.461A>C (p.His154Pro)
c.998A>C (p.His333Pro)
c.*270A>C (n.*270A>C)
c.1004A>C (p.His335Pro)
n.368A>C
n.3601A>C
c.508A>C
c.983A>C (p.His328Pro)
c.*672A>C (n.*672A>C)
c.1191A>C (n.1191A>C)
c.1061A>C (p.His354Pro)
c.923-2475A>C (n.923-2475A>C)
c.1067A>C (p.His356Pro)
c.1109A>C (p.His370Pro)
c.650A>C (p.His217Pro)
5g.162149255A>GCA131117320GABRG2c.1071A>G
c.1190A>G (p.His397Arg)
c.1153A>G
n.324A>G
c.785A>G (p.His262Arg)
c.1070A>G (p.His357Arg)
c.947A>G
c.461A>G (p.His154Arg)
c.998A>G (p.His333Arg)
c.*270A>G (n.*270A>G)
c.1004A>G (p.His335Arg)
n.368A>G
n.3601A>G
c.508A>G
c.983A>G (p.His328Arg)
c.*672A>G (n.*672A>G)
c.1191A>G (n.1191A>G)
c.1061A>G (p.His354Arg)
c.923-2475A>G (n.923-2475A>G)
c.1067A>G (p.His356Arg)
c.1109A>G (p.His370Arg)
c.650A>G (p.His217Arg)
 dbSNP
5g.162149255A>TCA362182611GABRG2c.1071A>T
c.1190A>T (p.His397Leu)
c.1153A>T
n.324A>T
c.785A>T (p.His262Leu)
c.1070A>T (p.His357Leu)
c.947A>T
c.461A>T (p.His154Leu)
c.998A>T (p.His333Leu)
c.*270A>T (n.*270A>T)
c.1004A>T (p.His335Leu)
n.368A>T
n.3601A>T
c.508A>T
c.983A>T (p.His328Leu)
c.*672A>T (n.*672A>T)
c.1191A>T (n.1191A>T)
c.1061A>T (p.His354Leu)
c.923-2475A>T (n.923-2475A>T)
c.1067A>T (p.His356Leu)
c.1109A>T (p.His370Leu)
c.650A>T (p.His217Leu)
5g.162149256T>ACA362182612GABRG2c.1072T>A
c.1191T>A (p.His397Gln)
c.1154T>A
n.325T>A
c.786T>A (p.His262Gln)
c.1071T>A (p.His357Gln)
c.948T>A
c.462T>A (p.His154Gln)
c.999T>A (p.His333Gln)
c.*271T>A (n.*271T>A)
c.1005T>A (p.His335Gln)
n.369T>A
n.3602T>A
c.509T>A
c.984T>A (p.His328Gln)
c.*673T>A (n.*673T>A)
c.1192T>A (n.1192T>A)
c.1062T>A (p.His354Gln)
c.923-2474T>A (n.923-2474T>A)
c.1068T>A (p.His356Gln)
c.1110T>A (p.His370Gln)
c.651T>A (p.His217Gln)
5g.162149256T>CCA447610324GABRG2c.1072T>C
c.1191T>C (p.His397=)
c.1154T>C
n.325T>C
c.786T>C (p.His262=)
c.1071T>C (p.His357=)
c.948T>C
c.462T>C (p.His154=)
c.999T>C (p.His333=)
c.*271T>C (n.*271T>C)
c.1005T>C (p.His335=)
n.369T>C
n.3602T>C
c.509T>C
c.984T>C (p.His328=)
c.*673T>C (n.*673T>C)
c.1192T>C (n.1192T>C)
c.1062T>C (p.His354=)
c.923-2474T>C (n.923-2474T>C)
c.1068T>C (p.His356=)
c.1110T>C (p.His370=)
c.651T>C (p.His217=)
 gnomAD v4
5g.162149256T>GCA362182613GABRG2c.1072T>G
c.1191T>G (p.His397Gln)
c.1154T>G
n.325T>G
c.786T>G (p.His262Gln)
c.1071T>G (p.His357Gln)
c.948T>G
c.462T>G (p.His154Gln)
c.999T>G (p.His333Gln)
c.*271T>G (n.*271T>G)
c.1005T>G (p.His335Gln)
n.369T>G
n.3602T>G
c.509T>G
c.984T>G (p.His328Gln)
c.*673T>G (n.*673T>G)
c.1192T>G (n.1192T>G)
c.1062T>G (p.His354Gln)
c.923-2474T>G (n.923-2474T>G)
c.1068T>G (p.His356Gln)
c.1110T>G (p.His370Gln)
c.651T>G (p.His217Gln)
5g.162149257T>ACA362182614GABRG2c.1073T>A
c.1192T>A (p.Tyr398Asn)
c.1155T>A
n.326T>A
c.787T>A (p.Tyr263Asn)
c.1072T>A (p.Tyr358Asn)
c.949T>A
c.463T>A (p.Tyr155Asn)
c.1000T>A (p.Tyr334Asn)
c.*272T>A (n.*272T>A)
c.1006T>A (p.Tyr336Asn)
n.370T>A
n.3603T>A
c.510T>A
c.985T>A (p.Tyr329Asn)
c.*674T>A (n.*674T>A)
c.1193T>A (n.1193T>A)
c.1063T>A (p.Tyr355Asn)
c.923-2473T>A (n.923-2473T>A)
c.1069T>A (p.Tyr357Asn)
c.1111T>A (p.Tyr371Asn)
c.652T>A (p.Tyr218Asn)
5g.162149257T>CCA362182615GABRG2c.1073T>C
c.1192T>C (p.Tyr398His)
c.1155T>C
n.326T>C
c.787T>C (p.Tyr263His)
c.1072T>C (p.Tyr358His)
c.949T>C
c.463T>C (p.Tyr155His)
c.1000T>C (p.Tyr334His)
c.*272T>C (n.*272T>C)
c.1006T>C (p.Tyr336His)
n.370T>C
n.3603T>C
c.510T>C
c.985T>C (p.Tyr329His)
c.*674T>C (n.*674T>C)
c.1193T>C (n.1193T>C)
c.1063T>C (p.Tyr355His)
c.923-2473T>C (n.923-2473T>C)
c.1069T>C (p.Tyr357His)
c.1111T>C (p.Tyr371His)
c.652T>C (p.Tyr218His)
5g.162149257T>GCA362182616GABRG2c.1073T>G
c.1192T>G (p.Tyr398Asp)
c.1155T>G
n.326T>G
c.787T>G (p.Tyr263Asp)
c.1072T>G (p.Tyr358Asp)
c.949T>G
c.463T>G (p.Tyr155Asp)
c.1000T>G (p.Tyr334Asp)
c.*272T>G (n.*272T>G)
c.1006T>G (p.Tyr336Asp)
n.370T>G
n.3603T>G
c.510T>G
c.985T>G (p.Tyr329Asp)
c.*674T>G (n.*674T>G)
c.1193T>G (n.1193T>G)
c.1063T>G (p.Tyr355Asp)
c.923-2473T>G (n.923-2473T>G)
c.1069T>G (p.Tyr357Asp)
c.1111T>G (p.Tyr371Asp)
c.652T>G (p.Tyr218Asp)
5g.162149258A>CCA362182619GABRG2c.1074A>C
c.1193A>C (p.Tyr398Ser)
c.1156A>C
n.327A>C
c.788A>C (p.Tyr263Ser)
c.1073A>C (p.Tyr358Ser)
c.950A>C
c.464A>C (p.Tyr155Ser)
c.1001A>C (p.Tyr334Ser)
c.*273A>C (n.*273A>C)
c.1007A>C (p.Tyr336Ser)
n.371A>C
n.3604A>C
c.511A>C
c.986A>C (p.Tyr329Ser)
c.*675A>C (n.*675A>C)
c.1194A>C (n.1194A>C)
c.1064A>C (p.Tyr355Ser)
c.923-2472A>C (n.923-2472A>C)
c.1070A>C (p.Tyr357Ser)
c.1112A>C (p.Tyr371Ser)
c.653A>C (p.Tyr218Ser)
5g.162149258A>GCA362182618GABRG2c.1074A>G
c.1193A>G (p.Tyr398Cys)
c.1156A>G
n.327A>G
c.788A>G (p.Tyr263Cys)
c.1073A>G (p.Tyr358Cys)
c.950A>G
c.464A>G (p.Tyr155Cys)
c.1001A>G (p.Tyr334Cys)
c.*273A>G (n.*273A>G)
c.1007A>G (p.Tyr336Cys)
n.371A>G
n.3604A>G
c.511A>G
c.986A>G (p.Tyr329Cys)
c.*675A>G (n.*675A>G)
c.1194A>G (n.1194A>G)
c.1064A>G (p.Tyr355Cys)
c.923-2472A>G (n.923-2472A>G)
c.1070A>G (p.Tyr357Cys)
c.1112A>G (p.Tyr371Cys)
c.653A>G (p.Tyr218Cys)
5g.162149258A>TCA362182617GABRG2c.1074A>T
c.1193A>T (p.Tyr398Phe)
c.1156A>T
n.327A>T
c.788A>T (p.Tyr263Phe)
c.1073A>T (p.Tyr358Phe)
c.950A>T
c.464A>T (p.Tyr155Phe)
c.1001A>T (p.Tyr334Phe)
c.*273A>T (n.*273A>T)
c.1007A>T (p.Tyr336Phe)
n.371A>T
n.3604A>T
c.511A>T
c.986A>T (p.Tyr329Phe)
c.*675A>T (n.*675A>T)
c.1194A>T (n.1194A>T)
c.1064A>T (p.Tyr355Phe)
c.923-2472A>T (n.923-2472A>T)
c.1070A>T (p.Tyr357Phe)
c.1112A>T (p.Tyr371Phe)
c.653A>T (p.Tyr218Phe)
5g.162149259T>ACA362182620GABRG2c.1075T>A
c.1194T>A (p.Tyr398Ter)
c.1157T>A
n.328T>A
c.789T>A (p.Tyr263Ter)
c.1074T>A (p.Tyr358Ter)
c.951T>A
c.465T>A (p.Tyr155Ter)
c.1002T>A (p.Tyr334Ter)
c.*274T>A (n.*274T>A)
c.1008T>A (p.Tyr336Ter)
n.372T>A
n.3605T>A
c.512T>A
c.987T>A (p.Tyr329Ter)
c.*676T>A (n.*676T>A)
c.1195T>A (n.1195T>A)
c.1065T>A (p.Tyr355Ter)
c.923-2471T>A (n.923-2471T>A)
c.1071T>A (p.Tyr357Ter)
c.1113T>A (p.Tyr371Ter)
c.654T>A (p.Tyr218Ter)
5g.162149259T>CCA447610325GABRG2c.1075T>C
c.1194T>C (p.Tyr398=)
c.1157T>C
n.328T>C
c.789T>C (p.Tyr263=)
c.1074T>C (p.Tyr358=)
c.951T>C
c.465T>C (p.Tyr155=)
c.1002T>C (p.Tyr334=)
c.*274T>C (n.*274T>C)
c.1008T>C (p.Tyr336=)
n.372T>C
n.3605T>C
c.512T>C
c.987T>C (p.Tyr329=)
c.*676T>C (n.*676T>C)
c.1195T>C (n.1195T>C)
c.1065T>C (p.Tyr355=)
c.923-2471T>C (n.923-2471T>C)
c.1071T>C (p.Tyr357=)
c.1113T>C (p.Tyr371=)
c.654T>C (p.Tyr218=)
5g.162149259T>GCA362182621GABRG2c.1075T>G
c.1194T>G (p.Tyr398Ter)
c.1157T>G
n.328T>G
c.789T>G (p.Tyr263Ter)
c.1074T>G (p.Tyr358Ter)
c.951T>G
c.465T>G (p.Tyr155Ter)
c.1002T>G (p.Tyr334Ter)
c.*274T>G (n.*274T>G)
c.1008T>G (p.Tyr336Ter)
n.372T>G
n.3605T>G
c.512T>G
c.987T>G (p.Tyr329Ter)
c.*676T>G (n.*676T>G)
c.1195T>G (n.1195T>G)
c.1065T>G (p.Tyr355Ter)
c.923-2471T>G (n.923-2471T>G)
c.1071T>G (p.Tyr357Ter)
c.1113T>G (p.Tyr371Ter)
c.654T>G (p.Tyr218Ter)
5g.162149262delCA2695205687GABRG2c.1078del
c.1197del (p.Phe399LeufsTer?)
c.1160del
n.331del
c.792del (p.Phe264LeufsTer?)
c.1077del (p.Phe359LeufsTer?)
c.954del
c.468del (p.Phe156LeufsTer?)
c.1005del (p.Phe335LeufsTer23)
c.*277del (n.*277del)
c.1011del (p.Phe337LeufsTer?)
n.375del
n.3608del
c.515del
c.990del (p.Phe330LeufsTer?)
c.*679del (n.*679del)
c.1198del (n.1198del)
c.1068del (p.Phe356LeufsTer?)
c.923-2468del (n.923-2468del)
c.1074del (p.Phe358LeufsTer?)
c.1116del (p.Phe372LeufsTer?)
c.657del (p.Phe219LeufsTer?)
5g.162149260T>ACA362182622GABRG2c.1076T>A
c.1195T>A (p.Phe399Ile)
c.1158T>A
n.329T>A
c.790T>A (p.Phe264Ile)
c.1075T>A (p.Phe359Ile)
c.952T>A
c.466T>A (p.Phe156Ile)
c.1003T>A (p.Phe335Ile)
c.*275T>A (n.*275T>A)
c.1009T>A (p.Phe337Ile)
n.373T>A
n.3606T>A
c.513T>A
c.988T>A (p.Phe330Ile)
c.*677T>A (n.*677T>A)
c.1196T>A (n.1196T>A)
c.1066T>A (p.Phe356Ile)
c.923-2470T>A (n.923-2470T>A)
c.1072T>A (p.Phe358Ile)
c.1114T>A (p.Phe372Ile)
c.655T>A (p.Phe219Ile)
5g.162149260T>CCA362182623GABRG2c.1076T>C
c.1195T>C (p.Phe399Leu)
c.1158T>C
n.329T>C
c.790T>C (p.Phe264Leu)
c.1075T>C (p.Phe359Leu)
c.952T>C
c.466T>C (p.Phe156Leu)
c.1003T>C (p.Phe335Leu)
c.*275T>C (n.*275T>C)
c.1009T>C (p.Phe337Leu)
n.373T>C
n.3606T>C
c.513T>C
c.988T>C (p.Phe330Leu)
c.*677T>C (n.*677T>C)
c.1196T>C (n.1196T>C)
c.1066T>C (p.Phe356Leu)
c.923-2470T>C (n.923-2470T>C)
c.1072T>C (p.Phe358Leu)
c.1114T>C (p.Phe372Leu)
c.655T>C (p.Phe219Leu)
5g.162149260T>GCA362182624GABRG2c.1076T>G
c.1195T>G (p.Phe399Val)
c.1158T>G
n.329T>G
c.790T>G (p.Phe264Val)
c.1075T>G (p.Phe359Val)
c.952T>G
c.466T>G (p.Phe156Val)
c.1003T>G (p.Phe335Val)
c.*275T>G (n.*275T>G)
c.1009T>G (p.Phe337Val)
n.373T>G
n.3606T>G
c.513T>G
c.988T>G (p.Phe330Val)
c.*677T>G (n.*677T>G)
c.1196T>G (n.1196T>G)
c.1066T>G (p.Phe356Val)
c.923-2470T>G (n.923-2470T>G)
c.1072T>G (p.Phe358Val)
c.1114T>G (p.Phe372Val)
c.655T>G (p.Phe219Val)
5g.162149261T>ACA362182625GABRG2c.1077T>A
c.1196T>A (p.Phe399Tyr)
c.1159T>A
n.330T>A
c.791T>A (p.Phe264Tyr)
c.1076T>A (p.Phe359Tyr)
c.953T>A
c.467T>A (p.Phe156Tyr)
c.1004T>A (p.Phe335Tyr)
c.*276T>A (n.*276T>A)
c.1010T>A (p.Phe337Tyr)
n.374T>A
n.3607T>A
c.514T>A
c.989T>A (p.Phe330Tyr)
c.*678T>A (n.*678T>A)
c.1197T>A (n.1197T>A)
c.1067T>A (p.Phe356Tyr)
c.923-2469T>A (n.923-2469T>A)
c.1073T>A (p.Phe358Tyr)
c.1115T>A (p.Phe372Tyr)
c.656T>A (p.Phe219Tyr)
5g.162149261T>CCA362182626GABRG2c.1077T>C
c.1196T>C (p.Phe399Ser)
c.1159T>C
n.330T>C
c.791T>C (p.Phe264Ser)
c.1076T>C (p.Phe359Ser)
c.953T>C
c.467T>C (p.Phe156Ser)
c.1004T>C (p.Phe335Ser)
c.*276T>C (n.*276T>C)
c.1010T>C (p.Phe337Ser)
n.374T>C
n.3607T>C
c.514T>C
c.989T>C (p.Phe330Ser)
c.*678T>C (n.*678T>C)
c.1197T>C (n.1197T>C)
c.1067T>C (p.Phe356Ser)
c.923-2469T>C (n.923-2469T>C)
c.1073T>C (p.Phe358Ser)
c.1115T>C (p.Phe372Ser)
c.656T>C (p.Phe219Ser)
5g.162149261T>GCA362182627GABRG2c.1077T>G
c.1196T>G (p.Phe399Cys)
c.1159T>G
n.330T>G
c.791T>G (p.Phe264Cys)
c.1076T>G (p.Phe359Cys)
c.953T>G
c.467T>G (p.Phe156Cys)
c.1004T>G (p.Phe335Cys)
c.*276T>G (n.*276T>G)
c.1010T>G (p.Phe337Cys)
n.374T>G
n.3607T>G
c.514T>G
c.989T>G (p.Phe330Cys)
c.*678T>G (n.*678T>G)
c.1197T>G (n.1197T>G)
c.1067T>G (p.Phe356Cys)
c.923-2469T>G (n.923-2469T>G)
c.1073T>G (p.Phe358Cys)
c.1115T>G (p.Phe372Cys)
c.656T>G (p.Phe219Cys)
5g.162149262T>ACA362182628GABRG2c.1078T>A
c.1197T>A (p.Phe399Leu)
c.1160T>A
n.331T>A
c.792T>A (p.Phe264Leu)
c.1077T>A (p.Phe359Leu)
c.954T>A
c.468T>A (p.Phe156Leu)
c.1005T>A (p.Phe335Leu)
c.*277T>A (n.*277T>A)
c.1011T>A (p.Phe337Leu)
n.375T>A
n.3608T>A
c.515T>A
c.990T>A (p.Phe330Leu)
c.*679T>A (n.*679T>A)
c.1198T>A (n.1198T>A)
c.1068T>A (p.Phe356Leu)
c.923-2468T>A (n.923-2468T>A)
c.1074T>A (p.Phe358Leu)
c.1116T>A (p.Phe372Leu)
c.657T>A (p.Phe219Leu)
5g.162149262T>CCA3544869GABRG2c.1078T>C
c.1197T>C (p.Phe399=)
c.1160T>C
n.331T>C
c.792T>C (p.Phe264=)
c.1077T>C (p.Phe359=)
c.954T>C
c.468T>C (p.Phe156=)
c.1005T>C (p.Phe335=)
c.*277T>C (n.*277T>C)
c.1011T>C (p.Phe337=)
n.375T>C
n.3608T>C
c.515T>C
c.990T>C (p.Phe330=)
c.*679T>C (n.*679T>C)
c.1198T>C (n.1198T>C)
c.1068T>C (p.Phe356=)
c.923-2468T>C (n.923-2468T>C)
c.1074T>C (p.Phe358=)
c.1116T>C (p.Phe372=)
c.657T>C (p.Phe219=)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.162149262T>GCA362182629GABRG2c.1078T>G
c.1197T>G (p.Phe399Leu)
c.1160T>G
n.331T>G
c.792T>G (p.Phe264Leu)
c.1077T>G (p.Phe359Leu)
c.954T>G
c.468T>G (p.Phe156Leu)
c.1005T>G (p.Phe335Leu)
c.*277T>G (n.*277T>G)
c.1011T>G (p.Phe337Leu)
n.375T>G
n.3608T>G
c.515T>G
c.990T>G (p.Phe330Leu)
c.*679T>G (n.*679T>G)
c.1198T>G (n.1198T>G)
c.1068T>G (p.Phe356Leu)
c.923-2468T>G (n.923-2468T>G)
c.1074T>G (p.Phe358Leu)
c.1116T>G (p.Phe372Leu)
c.657T>G (p.Phe219Leu)
5g.162149262T=CA1596380276GABRG2c.1078T=
c.1197T= (p.Phe399=)
c.1160T=
n.331T=
c.792T= (p.Phe264=)
c.1077T= (p.Phe359=)
c.954T=
c.468T= (p.Phe156=)
c.1005T= (p.Phe335=)
c.*277T= (n.*277T=)
c.1011T= (p.Phe337=)
n.375T=
n.3608T=
c.515T=
c.990T= (p.Phe330=)
c.*679T= (n.*679T=)
c.1198T= (n.1198T=)
c.1068T= (p.Phe356=)
c.923-2468T= (n.923-2468T=)
c.1074T= (p.Phe358=)
c.1116T= (p.Phe372=)
c.657T= (p.Phe219=)
5g.162149263G>ACA362182630GABRG2c.1079G>A
c.1198G>A (p.Val400Ile)
c.1161G>A
n.332G>A
c.793G>A (p.Val265Ile)
c.1078G>A (p.Val360Ile)
c.955G>A
c.469G>A (p.Val157Ile)
c.1006G>A (p.Val336Ile)
c.*278G>A (n.*278G>A)
c.1012G>A (p.Val338Ile)
n.376G>A
n.3609G>A
c.516G>A
c.991G>A (p.Val331Ile)
c.*680G>A (n.*680G>A)
c.1199G>A (n.1199G>A)
c.1069G>A (p.Val357Ile)
c.923-2467G>A (n.923-2467G>A)
c.1075G>A (p.Val359Ile)
c.1117G>A (p.Val373Ile)
c.658G>A (p.Val220Ile)
 gnomAD v4
5g.162149263G>CCA362182631GABRG2c.1079G>C
c.1198G>C (p.Val400Leu)
c.1161G>C
n.332G>C
c.793G>C (p.Val265Leu)
c.1078G>C (p.Val360Leu)
c.955G>C
c.469G>C (p.Val157Leu)
c.1006G>C (p.Val336Leu)
c.*278G>C (n.*278G>C)
c.1012G>C (p.Val338Leu)
n.376G>C
n.3609G>C
c.516G>C
c.991G>C (p.Val331Leu)
c.*680G>C (n.*680G>C)
c.1199G>C (n.1199G>C)
c.1069G>C (p.Val357Leu)
c.923-2467G>C (n.923-2467G>C)
c.1075G>C (p.Val359Leu)
c.1117G>C (p.Val373Leu)
c.658G>C (p.Val220Leu)
5g.162149263G>TCA362182632GABRG2c.1079G>T
c.1198G>T (p.Val400Phe)
c.1161G>T
n.332G>T
c.793G>T (p.Val265Phe)
c.1078G>T (p.Val360Phe)
c.955G>T
c.469G>T (p.Val157Phe)
c.1006G>T (p.Val336Phe)
c.*278G>T (n.*278G>T)
c.1012G>T (p.Val338Phe)
n.376G>T
n.3609G>T
c.516G>T
c.991G>T (p.Val331Phe)
c.*680G>T (n.*680G>T)
c.1199G>T (n.1199G>T)
c.1069G>T (p.Val357Phe)
c.923-2467G>T (n.923-2467G>T)
c.1075G>T (p.Val359Phe)
c.1117G>T (p.Val373Phe)
c.658G>T (p.Val220Phe)
5g.162149264T>ACA131117321GABRG2c.1080T>A
c.1199T>A (p.Val400Asp)
c.1162T>A
n.333T>A
c.794T>A (p.Val265Asp)
c.1079T>A (p.Val360Asp)
c.956T>A
c.470T>A (p.Val157Asp)
c.1007T>A (p.Val336Asp)
c.*279T>A (n.*279T>A)
c.1013T>A (p.Val338Asp)
n.377T>A
n.3610T>A
c.517T>A
c.992T>A (p.Val331Asp)
c.*681T>A (n.*681T>A)
c.1200T>A (n.1200T>A)
c.1070T>A (p.Val357Asp)
c.923-2466T>A (n.923-2466T>A)
c.1076T>A (p.Val359Asp)
c.1118T>A (p.Val373Asp)
c.659T>A (p.Val220Asp)
 dbSNP
5g.162149264T>CCA362182634GABRG2c.1080T>C
c.1199T>C (p.Val400Ala)
c.1162T>C
n.333T>C
c.794T>C (p.Val265Ala)
c.1079T>C (p.Val360Ala)
c.956T>C
c.470T>C (p.Val157Ala)
c.1007T>C (p.Val336Ala)
c.*279T>C (n.*279T>C)
c.1013T>C (p.Val338Ala)
n.377T>C
n.3610T>C
c.517T>C
c.992T>C (p.Val331Ala)
c.*681T>C (n.*681T>C)
c.1200T>C (n.1200T>C)
c.1070T>C (p.Val357Ala)
c.923-2466T>C (n.923-2466T>C)
c.1076T>C (p.Val359Ala)
c.1118T>C (p.Val373Ala)
c.659T>C (p.Val220Ala)
5g.162149264T>GCA362182633GABRG2c.1080T>G
c.1199T>G (p.Val400Gly)
c.1162T>G
n.333T>G
c.794T>G (p.Val265Gly)
c.1079T>G (p.Val360Gly)
c.956T>G
c.470T>G (p.Val157Gly)
c.1007T>G (p.Val336Gly)
c.*279T>G (n.*279T>G)
c.1013T>G (p.Val338Gly)
n.377T>G
n.3610T>G
c.517T>G
c.992T>G (p.Val331Gly)
c.*681T>G (n.*681T>G)
c.1200T>G (n.1200T>G)
c.1070T>G (p.Val357Gly)
c.923-2466T>G (n.923-2466T>G)
c.1076T>G (p.Val359Gly)
c.1118T>G (p.Val373Gly)
c.659T>G (p.Val220Gly)
5g.162149264T=CA1596380277GABRG2c.1080T=
c.1199T= (p.Val400=)
c.1162T=
n.333T=
c.794T= (p.Val265=)
c.1079T= (p.Val360=)
c.956T=
c.470T= (p.Val157=)
c.1007T= (p.Val336=)
c.*279T= (n.*279T=)
c.1013T= (p.Val338=)
n.377T=
n.3610T=
c.517T=
c.992T= (p.Val331=)
c.*681T= (n.*681T=)
c.1200T= (n.1200T=)
c.1070T= (p.Val357=)
c.923-2466T= (n.923-2466T=)
c.1076T= (p.Val359=)
c.1118T= (p.Val373=)
c.659T= (p.Val220=)
5g.162149265C>ACA447610330GABRG2c.1081C>A
c.1200C>A (p.Val400=)
c.1163C>A
n.334C>A
c.795C>A (p.Val265=)
c.1080C>A (p.Val360=)
c.957C>A
c.471C>A (p.Val157=)
c.1008C>A (p.Val336=)
c.*280C>A (n.*280C>A)
c.1014C>A (p.Val338=)
n.378C>A
n.3611C>A
c.518C>A
c.993C>A (p.Val331=)
c.*682C>A (n.*682C>A)
c.1201C>A (n.1201C>A)
c.1071C>A (p.Val357=)
c.923-2465C>A (n.923-2465C>A)
c.1077C>A (p.Val359=)
c.1119C>A (p.Val373=)
c.660C>A (p.Val220=)
5g.162149265C>GCA447610331GABRG2c.1081C>G
c.1200C>G (p.Val400=)
c.1163C>G
n.334C>G
c.795C>G (p.Val265=)
c.1080C>G (p.Val360=)
c.957C>G
c.471C>G (p.Val157=)
c.1008C>G (p.Val336=)
c.*280C>G (n.*280C>G)
c.1014C>G (p.Val338=)
n.378C>G
n.3611C>G
c.518C>G
c.993C>G (p.Val331=)
c.*682C>G (n.*682C>G)
c.1201C>G (n.1201C>G)
c.1071C>G (p.Val357=)
c.923-2465C>G (n.923-2465C>G)
c.1077C>G (p.Val359=)
c.1119C>G (p.Val373=)
c.660C>G (p.Val220=)
5g.162149265C>TCA447610332GABRG2c.1081C>T
c.1200C>T (p.Val400=)
c.1163C>T
n.334C>T
c.795C>T (p.Val265=)
c.1080C>T (p.Val360=)
c.957C>T
c.471C>T (p.Val157=)
c.1008C>T (p.Val336=)
c.*280C>T (n.*280C>T)
c.1014C>T (p.Val338=)
n.378C>T
n.3611C>T
c.518C>T
c.993C>T (p.Val331=)
c.*682C>T (n.*682C>T)
c.1201C>T (n.1201C>T)
c.1071C>T (p.Val357=)
c.923-2465C>T (n.923-2465C>T)
c.1077C>T (p.Val359=)
c.1119C>T (p.Val373=)
c.660C>T (p.Val220=)
 COSMIC
5g.162149266A=CA1596380278GABRG2c.1082A=
c.1201A= (p.Ser401=)
c.1164A=
n.335A=
c.796A= (p.Ser266=)
c.1081A= (p.Ser361=)
c.958A=
c.472A= (p.Ser158=)
c.1009A= (p.Ser337=)
c.*281A= (n.*281A=)
c.1015A= (p.Ser339=)
n.379A=
n.3612A=
c.519A=
c.994A= (p.Ser332=)
c.*683A= (n.*683A=)
c.1202A= (n.1202A=)
c.1072A= (p.Ser358=)
c.923-2464A= (n.923-2464A=)
c.1078A= (p.Ser360=)
c.1120A= (p.Ser374=)
c.661A= (p.Ser221=)
5g.162149266A>CCA362182635GABRG2c.1082A>C
c.1201A>C (p.Ser401Arg)
c.1164A>C
n.335A>C
c.796A>C (p.Ser266Arg)
c.1081A>C (p.Ser361Arg)
c.958A>C
c.472A>C (p.Ser158Arg)
c.1009A>C (p.Ser337Arg)
c.*281A>C (n.*281A>C)
c.1015A>C (p.Ser339Arg)
n.379A>C
n.3612A>C
c.519A>C
c.994A>C (p.Ser332Arg)
c.*683A>C (n.*683A>C)
c.1202A>C (n.1202A>C)
c.1072A>C (p.Ser358Arg)
c.923-2464A>C (n.923-2464A>C)
c.1078A>C (p.Ser360Arg)
c.1120A>C (p.Ser374Arg)
c.661A>C (p.Ser221Arg)
5g.162149266A>GCA362182636GABRG2c.1082A>G
c.1201A>G (p.Ser401Gly)
c.1164A>G
n.335A>G
c.796A>G (p.Ser266Gly)
c.1081A>G (p.Ser361Gly)
c.958A>G
c.472A>G (p.Ser158Gly)
c.1009A>G (p.Ser337Gly)
c.*281A>G (n.*281A>G)
c.1015A>G (p.Ser339Gly)
n.379A>G
n.3612A>G
c.519A>G
c.994A>G (p.Ser332Gly)
c.*683A>G (n.*683A>G)
c.1202A>G (n.1202A>G)
c.1072A>G (p.Ser358Gly)
c.923-2464A>G (n.923-2464A>G)
c.1078A>G (p.Ser360Gly)
c.1120A>G (p.Ser374Gly)
c.661A>G (p.Ser221Gly)
 dbSNP gnomAD v2
5g.162149266A>TCA362182637GABRG2c.1082A>T
c.1201A>T (p.Ser401Cys)
c.1164A>T
n.335A>T
c.796A>T (p.Ser266Cys)
c.1081A>T (p.Ser361Cys)
c.958A>T
c.472A>T (p.Ser158Cys)
c.1009A>T (p.Ser337Cys)
c.*281A>T (n.*281A>T)
c.1015A>T (p.Ser339Cys)
n.379A>T
n.3612A>T
c.519A>T
c.994A>T (p.Ser332Cys)
c.*683A>T (n.*683A>T)
c.1202A>T (n.1202A>T)
c.1072A>T (p.Ser358Cys)
c.923-2464A>T (n.923-2464A>T)
c.1078A>T (p.Ser360Cys)
c.1120A>T (p.Ser374Cys)
c.661A>T (p.Ser221Cys)
5g.162149271_162149285delCA2676329346GABRG2c.1087_1101del
c.1206_1220del (p.Asn402_Ser406del)
c.1169_1183del
n.340_354del
c.801_815del (p.Asn267_Ser271del)
c.1086_1100del (p.Asn362_Ser366del)
c.963_977del
c.477_491del (p.Asn159_Ser163del)
c.1014_1028del (p.Asn338_Ser342del)
c.*286_*300del (n.*286_*300del)
c.1020_1034del (p.Asn340_Ser344del)
n.384_398del
n.3617_3631del
c.524_538del
c.999_1013del (p.Asn333_Ser337del)
c.*688_*702del (n.*688_*702del)
c.1207_1221del (n.1207_1221del)
c.1077_1091del (p.Asn359_Ser363del)
c.923-2459_923-2445del (n.923-2459_923-2445del)
c.1083_1097del (p.Asn361_Ser365del)
c.1125_1139del (p.Asn375_Ser379del)
c.666_680del (p.Asn222_Ser226del)
 gnomAD v4
5g.162149267G>ACA362182638GABRG2c.1083G>A
c.1202G>A (p.Ser401Asn)
c.1165G>A
n.336G>A
c.797G>A (p.Ser266Asn)
c.1082G>A (p.Ser361Asn)
c.959G>A
c.473G>A (p.Ser158Asn)
c.1010G>A (p.Ser337Asn)
c.*282G>A (n.*282G>A)
c.1016G>A (p.Ser339Asn)
n.380G>A
n.3613G>A
c.520G>A
c.995G>A (p.Ser332Asn)
c.*684G>A (n.*684G>A)
c.1203G>A (n.1203G>A)
c.1073G>A (p.Ser358Asn)
c.923-2463G>A (n.923-2463G>A)
c.1079G>A (p.Ser360Asn)
c.1121G>A (p.Ser374Asn)
c.662G>A (p.Ser221Asn)
5g.162149267G>CCA362182639GABRG2c.1083G>C
c.1202G>C (p.Ser401Thr)
c.1165G>C
n.336G>C
c.797G>C (p.Ser266Thr)
c.1082G>C (p.Ser361Thr)
c.959G>C
c.473G>C (p.Ser158Thr)
c.1010G>C (p.Ser337Thr)
c.*282G>C (n.*282G>C)
c.1016G>C (p.Ser339Thr)
n.380G>C
n.3613G>C
c.520G>C
c.995G>C (p.Ser332Thr)
c.*684G>C (n.*684G>C)
c.1203G>C (n.1203G>C)
c.1073G>C (p.Ser358Thr)
c.923-2463G>C (n.923-2463G>C)
c.1079G>C (p.Ser360Thr)
c.1121G>C (p.Ser374Thr)
c.662G>C (p.Ser221Thr)
5g.162149267G>TCA362182640GABRG2c.1083G>T
c.1202G>T (p.Ser401Ile)
c.1165G>T
n.336G>T
c.797G>T (p.Ser266Ile)
c.1082G>T (p.Ser361Ile)
c.959G>T
c.473G>T (p.Ser158Ile)
c.1010G>T (p.Ser337Ile)
c.*282G>T (n.*282G>T)
c.1016G>T (p.Ser339Ile)
n.380G>T
n.3613G>T
c.520G>T
c.995G>T (p.Ser332Ile)
c.*684G>T (n.*684G>T)
c.1203G>T (n.1203G>T)
c.1073G>T (p.Ser358Ile)
c.923-2463G>T (n.923-2463G>T)
c.1079G>T (p.Ser360Ile)
c.1121G>T (p.Ser374Ile)
c.662G>T (p.Ser221Ile)
5g.162149268C>ACA362182641GABRG2c.1084C>A
c.1203C>A (p.Ser401Arg)
c.1166C>A
n.337C>A
c.798C>A (p.Ser266Arg)
c.1083C>A (p.Ser361Arg)
c.960C>A
c.474C>A (p.Ser158Arg)
c.1011C>A (p.Ser337Arg)
c.*283C>A (n.*283C>A)
c.1017C>A (p.Ser339Arg)
n.381C>A
n.3614C>A
c.521C>A
c.996C>A (p.Ser332Arg)
c.*685C>A (n.*685C>A)
c.1204C>A (n.1204C>A)
c.1074C>A (p.Ser358Arg)
c.923-2462C>A (n.923-2462C>A)
c.1080C>A (p.Ser360Arg)
c.1122C>A (p.Ser374Arg)
c.663C>A (p.Ser221Arg)
5g.162149268C>GCA362182642GABRG2c.1084C>G
c.1203C>G (p.Ser401Arg)
c.1166C>G
n.337C>G
c.798C>G (p.Ser266Arg)
c.1083C>G (p.Ser361Arg)
c.960C>G
c.474C>G (p.Ser158Arg)
c.1011C>G (p.Ser337Arg)
c.*283C>G (n.*283C>G)
c.1017C>G (p.Ser339Arg)
n.381C>G
n.3614C>G
c.521C>G
c.996C>G (p.Ser332Arg)
c.*685C>G (n.*685C>G)
c.1204C>G (n.1204C>G)
c.1074C>G (p.Ser358Arg)
c.923-2462C>G (n.923-2462C>G)
c.1080C>G (p.Ser360Arg)
c.1122C>G (p.Ser374Arg)
c.663C>G (p.Ser221Arg)
5g.162149268C>TCA447610333GABRG2c.1084C>T
c.1203C>T (p.Ser401=)
c.1166C>T
n.337C>T
c.798C>T (p.Ser266=)
c.1083C>T (p.Ser361=)
c.960C>T
c.474C>T (p.Ser158=)
c.1011C>T (p.Ser337=)
c.*283C>T (n.*283C>T)
c.1017C>T (p.Ser339=)
n.381C>T
n.3614C>T
c.521C>T
c.996C>T (p.Ser332=)
c.*685C>T (n.*685C>T)
c.1204C>T (n.1204C>T)
c.1074C>T (p.Ser358=)
c.923-2462C>T (n.923-2462C>T)
c.1080C>T (p.Ser360=)
c.1122C>T (p.Ser374=)
c.663C>T (p.Ser221=)
 gnomAD v4
5g.162149269A>CCA362182643GABRG2c.1085A>C
c.1204A>C (p.Asn402His)
c.1167A>C
n.338A>C
c.799A>C (p.Asn267His)
c.1084A>C (p.Asn362His)
c.961A>C
c.475A>C (p.Asn159His)
c.1012A>C (p.Asn338His)
c.*284A>C (n.*284A>C)
c.1018A>C (p.Asn340His)
n.382A>C
n.3615A>C
c.522A>C
c.997A>C (p.Asn333His)
c.*686A>C (n.*686A>C)
c.1205A>C (n.1205A>C)
c.1075A>C (p.Asn359His)
c.923-2461A>C (n.923-2461A>C)
c.1081A>C (p.Asn361His)
c.1123A>C (p.Asn375His)
c.664A>C (p.Asn222His)
5g.162149269A>GCA362182644GABRG2c.1085A>G
c.1204A>G (p.Asn402Asp)
c.1167A>G
n.338A>G
c.799A>G (p.Asn267Asp)
c.1084A>G (p.Asn362Asp)
c.961A>G
c.475A>G (p.Asn159Asp)
c.1012A>G (p.Asn338Asp)
c.*284A>G (n.*284A>G)
c.1018A>G (p.Asn340Asp)
n.382A>G
n.3615A>G
c.522A>G
c.997A>G (p.Asn333Asp)
c.*686A>G (n.*686A>G)
c.1205A>G (n.1205A>G)
c.1075A>G (p.Asn359Asp)
c.923-2461A>G (n.923-2461A>G)
c.1081A>G (p.Asn361Asp)
c.1123A>G (p.Asn375Asp)
c.664A>G (p.Asn222Asp)
5g.162149269A>TCA362182645GABRG2c.1085A>T
c.1204A>T (p.Asn402Tyr)
c.1167A>T
n.338A>T
c.799A>T (p.Asn267Tyr)
c.1084A>T (p.Asn362Tyr)
c.961A>T
c.475A>T (p.Asn159Tyr)
c.1012A>T (p.Asn338Tyr)
c.*284A>T (n.*284A>T)
c.1018A>T (p.Asn340Tyr)
n.382A>T
n.3615A>T
c.522A>T
c.997A>T (p.Asn333Tyr)
c.*686A>T (n.*686A>T)
c.1205A>T (n.1205A>T)
c.1075A>T (p.Asn359Tyr)
c.923-2461A>T (n.923-2461A>T)
c.1081A>T (p.Asn361Tyr)
c.1123A>T (p.Asn375Tyr)
c.664A>T (p.Asn222Tyr)
5g.162149270A=CA1596380279GABRG2c.1086A=
c.1205A= (p.Asn402=)
c.1168A=
n.339A=
c.800A= (p.Asn267=)
c.1085A= (p.Asn362=)
c.962A=
c.476A= (p.Asn159=)
c.1013A= (p.Asn338=)
c.*285A= (n.*285A=)
c.1019A= (p.Asn340=)
n.383A=
n.3616A=
c.523A=
c.998A= (p.Asn333=)
c.*687A= (n.*687A=)
c.1206A= (n.1206A=)
c.1076A= (p.Asn359=)
c.923-2460A= (n.923-2460A=)
c.1082A= (p.Asn361=)
c.1124A= (p.Asn375=)
c.665A= (p.Asn222=)
5g.162149270A>CCA362182646GABRG2c.1086A>C
c.1205A>C (p.Asn402Thr)
c.1168A>C
n.339A>C
c.800A>C (p.Asn267Thr)
c.1085A>C (p.Asn362Thr)
c.962A>C
c.476A>C (p.Asn159Thr)
c.1013A>C (p.Asn338Thr)
c.*285A>C (n.*285A>C)
c.1019A>C (p.Asn340Thr)
n.383A>C
n.3616A>C
c.523A>C
c.998A>C (p.Asn333Thr)
c.*687A>C (n.*687A>C)
c.1206A>C (n.1206A>C)
c.1076A>C (p.Asn359Thr)
c.923-2460A>C (n.923-2460A>C)
c.1082A>C (p.Asn361Thr)
c.1124A>C (p.Asn375Thr)
c.665A>C (p.Asn222Thr)
5g.162149270A>GCA362182647GABRG2c.1086A>G
c.1205A>G (p.Asn402Ser)
c.1168A>G
n.339A>G
c.800A>G (p.Asn267Ser)
c.1085A>G (p.Asn362Ser)
c.962A>G
c.476A>G (p.Asn159Ser)
c.1013A>G (p.Asn338Ser)
c.*285A>G (n.*285A>G)
c.1019A>G (p.Asn340Ser)
n.383A>G
n.3616A>G
c.523A>G
c.998A>G (p.Asn333Ser)
c.*687A>G (n.*687A>G)
c.1206A>G (n.1206A>G)
c.1076A>G (p.Asn359Ser)
c.923-2460A>G (n.923-2460A>G)
c.1082A>G (p.Asn361Ser)
c.1124A>G (p.Asn375Ser)
c.665A>G (p.Asn222Ser)
 dbSNP
5g.162149270A>TCA362182648GABRG2c.1086A>T
c.1205A>T (p.Asn402Ile)
c.1168A>T
n.339A>T
c.800A>T (p.Asn267Ile)
c.1085A>T (p.Asn362Ile)
c.962A>T
c.476A>T (p.Asn159Ile)
c.1013A>T (p.Asn338Ile)
c.*285A>T (n.*285A>T)
c.1019A>T (p.Asn340Ile)
n.383A>T
n.3616A>T
c.523A>T
c.998A>T (p.Asn333Ile)
c.*687A>T (n.*687A>T)
c.1206A>T (n.1206A>T)
c.1076A>T (p.Asn359Ile)
c.923-2460A>T (n.923-2460A>T)
c.1082A>T (p.Asn361Ile)
c.1124A>T (p.Asn375Ile)
c.665A>T (p.Asn222Ile)
5g.162149270_162149271delinsACCA1596380280GABRG2c.1086_1087delinsAC
c.1205_1206delinsAC (p.Asn402=)
c.1168_1169delinsAC
n.339_340delinsAC
c.800_801delinsAC (p.Asn267=)
c.1085_1086delinsAC (p.Asn362=)
c.962_963delinsAC
c.476_477delinsAC (p.Asn159=)
c.1013_1014delinsAC (p.Asn338=)
c.*285_*286delinsAC (n.*285_*286delinsAC)
c.1019_1020delinsAC (p.Asn340=)
n.383_384delinsAC
n.3616_3617delinsAC
c.523_524delinsAC
c.998_999delinsAC (p.Asn333=)
c.*687_*688delinsAC (n.*687_*688delinsAC)
c.1206_1207delinsAC (n.1206_1207delinsAC)
c.1076_1077delinsAC (p.Asn359=)
c.923-2460_923-2459delinsAC (n.923-2460_923-2459delinsAC)
c.1082_1083delinsAC (p.Asn361=)
c.1124_1125delinsAC (p.Asn375=)
c.665_666delinsAC (p.Asn222=)
5g.162149271C>ACA362182649GABRG2c.1087C>A
c.1206C>A (p.Asn402Lys)
c.1169C>A
n.340C>A
c.801C>A (p.Asn267Lys)
c.1086C>A (p.Asn362Lys)
c.963C>A
c.477C>A (p.Asn159Lys)
c.1014C>A (p.Asn338Lys)
c.*286C>A (n.*286C>A)
c.1020C>A (p.Asn340Lys)
n.384C>A
n.3617C>A
c.524C>A
c.999C>A (p.Asn333Lys)
c.*688C>A (n.*688C>A)
c.1207C>A (n.1207C>A)
c.1077C>A (p.Asn359Lys)
c.923-2459C>A (n.923-2459C>A)
c.1083C>A (p.Asn361Lys)
c.1125C>A (p.Asn375Lys)
c.666C>A (p.Asn222Lys)
5g.162149271C>GCA362182650GABRG2c.1087C>G
c.1206C>G (p.Asn402Lys)
c.1169C>G
n.340C>G
c.801C>G (p.Asn267Lys)
c.1086C>G (p.Asn362Lys)
c.963C>G
c.477C>G (p.Asn159Lys)
c.1014C>G (p.Asn338Lys)
c.*286C>G (n.*286C>G)
c.1020C>G (p.Asn340Lys)
n.384C>G
n.3617C>G
c.524C>G
c.999C>G (p.Asn333Lys)
c.*688C>G (n.*688C>G)
c.1207C>G (n.1207C>G)
c.1077C>G (p.Asn359Lys)
c.923-2459C>G (n.923-2459C>G)
c.1083C>G (p.Asn361Lys)
c.1125C>G (p.Asn375Lys)
c.666C>G (p.Asn222Lys)
5g.162149271C>TCA447610334GABRG2c.1087C>T
c.1206C>T (p.Asn402=)
c.1169C>T
n.340C>T
c.801C>T (p.Asn267=)
c.1086C>T (p.Asn362=)
c.963C>T
c.477C>T (p.Asn159=)
c.1014C>T (p.Asn338=)
c.*286C>T (n.*286C>T)
c.1020C>T (p.Asn340=)
n.384C>T
n.3617C>T
c.524C>T
c.999C>T (p.Asn333=)
c.*688C>T (n.*688C>T)
c.1207C>T (n.1207C>T)
c.1077C>T (p.Asn359=)
c.923-2459C>T (n.923-2459C>T)
c.1083C>T (p.Asn361=)
c.1125C>T (p.Asn375=)
c.666C>T (p.Asn222=)
5g.162149272delCA1139659245GABRG2c.1088del
c.1207del (p.Arg403GlyfsTer29)
c.1170del
n.341del
c.802del (p.Arg268GlyfsTer29)
c.802del (p.Arg268GlyfsTer?)
c.1087del (p.Arg363GlyfsTer?)
c.964del
c.478del (p.Arg160GlyfsTer29)
c.1087del (p.Arg363GlyfsTer29)
c.1015del (p.Arg339GlyfsTer19)
c.*287del (n.*287del)
c.1021del (p.Arg341GlyfsTer?)
c.1021del (p.Arg341GlyfsTer29)
n.385del
n.3618del
c.525del
c.1000del (p.Arg334GlyfsTer?)
c.1207del (p.Arg403GlyfsTer?)
c.*689del (n.*689del)
c.1208del (n.1208del)
c.1078del (p.Arg360GlyfsTer?)
c.923-2458del (n.923-2458del)
c.1084del (p.Arg362GlyfsTer?)
c.1084del (p.Arg362GlyfsTer29)
c.1126del (p.Arg376GlyfsTer?)
c.667del (p.Arg223GlyfsTer29)
c.667del (p.Arg223GlyfsTer?)
 ClinVar dbSNP
5g.162149272C>ACA447610335GABRG2c.1088C>A
c.1207C>A (p.Arg403=)
c.1170C>A
n.341C>A
c.802C>A (p.Arg268=)
c.1087C>A (p.Arg363=)
c.964C>A
c.478C>A (p.Arg160=)
c.1015C>A (p.Arg339=)
c.*287C>A (n.*287C>A)
c.1021C>A (p.Arg341=)
n.385C>A
n.3618C>A
c.525C>A
c.1000C>A (p.Arg334=)
c.*689C>A (n.*689C>A)
c.1208C>A (n.1208C>A)
c.1078C>A (p.Arg360=)
c.923-2458C>A (n.923-2458C>A)
c.1084C>A (p.Arg362=)
c.1126C>A (p.Arg376=)
c.667C>A (p.Arg223=)
 gnomAD v4 COSMIC
5g.162149272C=CA1596380281GABRG2c.1088C=
c.1207C= (p.Arg403=)
c.1170C=
n.341C=
c.802C= (p.Arg268=)
c.1087C= (p.Arg363=)
c.964C=
c.478C= (p.Arg160=)
c.1015C= (p.Arg339=)
c.*287C= (n.*287C=)
c.1021C= (p.Arg341=)
n.385C=
n.3618C=
c.525C=
c.1000C= (p.Arg334=)
c.*689C= (n.*689C=)
c.1208C= (n.1208C=)
c.1078C= (p.Arg360=)
c.923-2458C= (n.923-2458C=)
c.1084C= (p.Arg362=)
c.1126C= (p.Arg376=)
c.667C= (p.Arg223=)
5g.162149272C>GCA362182651GABRG2c.1088C>G
c.1207C>G (p.Arg403Gly)
c.1170C>G
n.341C>G
c.802C>G (p.Arg268Gly)
c.1087C>G (p.Arg363Gly)
c.964C>G
c.478C>G (p.Arg160Gly)
c.1015C>G (p.Arg339Gly)
c.*287C>G (n.*287C>G)
c.1021C>G (p.Arg341Gly)
n.385C>G
n.3618C>G
c.525C>G
c.1000C>G (p.Arg334Gly)
c.*689C>G (n.*689C>G)
c.1208C>G (n.1208C>G)
c.1078C>G (p.Arg360Gly)
c.923-2458C>G (n.923-2458C>G)
c.1084C>G (p.Arg362Gly)
c.1126C>G (p.Arg376Gly)
c.667C>G (p.Arg223Gly)
 ClinVar dbSNP gnomAD v4
5g.162149272C>TCA314741GABRG2c.1088C>T
c.1207C>T (p.Arg403Trp)
c.1170C>T
n.341C>T
c.802C>T (p.Arg268Trp)
c.1087C>T (p.Arg363Trp)
c.964C>T
c.478C>T (p.Arg160Trp)
c.1015C>T (p.Arg339Trp)
c.*287C>T (n.*287C>T)
c.1021C>T (p.Arg341Trp)
n.385C>T
n.3618C>T
c.525C>T
c.1000C>T (p.Arg334Trp)
c.*689C>T (n.*689C>T)
c.1208C>T (n.1208C>T)
c.1078C>T (p.Arg360Trp)
c.923-2458C>T (n.923-2458C>T)
c.1084C>T (p.Arg362Trp)
c.1126C>T (p.Arg376Trp)
c.667C>T (p.Arg223Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.162149273G>ACA314775GABRG2c.1089G>A
c.1208G>A (p.Arg403Gln)
c.1171G>A
n.342G>A
c.803G>A (p.Arg268Gln)
c.1088G>A (p.Arg363Gln)
c.965G>A
c.479G>A (p.Arg160Gln)
c.1016G>A (p.Arg339Gln)
c.*288G>A (n.*288G>A)
c.1022G>A (p.Arg341Gln)
n.386G>A
n.3619G>A
c.526G>A
c.1001G>A (p.Arg334Gln)
c.*690G>A (n.*690G>A)
c.1209G>A (n.1209G>A)
c.1079G>A (p.Arg360Gln)
c.923-2457G>A (n.923-2457G>A)
c.1085G>A (p.Arg362Gln)
c.1127G>A (p.Arg376Gln)
c.668G>A (p.Arg223Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.162149273G>CCA362182652GABRG2c.1089G>C
c.1208G>C (p.Arg403Pro)
c.1171G>C
n.342G>C
c.803G>C (p.Arg268Pro)
c.1088G>C (p.Arg363Pro)
c.965G>C
c.479G>C (p.Arg160Pro)
c.1016G>C (p.Arg339Pro)
c.*288G>C (n.*288G>C)
c.1022G>C (p.Arg341Pro)
n.386G>C
n.3619G>C
c.526G>C
c.1001G>C (p.Arg334Pro)
c.*690G>C (n.*690G>C)
c.1209G>C (n.1209G>C)
c.1079G>C (p.Arg360Pro)
c.923-2457G>C (n.923-2457G>C)
c.1085G>C (p.Arg362Pro)
c.1127G>C (p.Arg376Pro)
c.668G>C (p.Arg223Pro)
5g.162149273G=CA1596380282GABRG2c.1089G=
c.1208G= (p.Arg403=)
c.1171G=
n.342G=
c.803G= (p.Arg268=)
c.1088G= (p.Arg363=)
c.965G=
c.479G= (p.Arg160=)
c.1016G= (p.Arg339=)
c.*288G= (n.*288G=)
c.1022G= (p.Arg341=)
n.386G=
n.3619G=
c.526G=
c.1001G= (p.Arg334=)
c.*690G= (n.*690G=)
c.1209G= (n.1209G=)
c.1079G= (p.Arg360=)
c.923-2457G= (n.923-2457G=)
c.1085G= (p.Arg362=)
c.1127G= (p.Arg376=)
c.668G= (p.Arg223=)
5g.162149273G>TCA362182653GABRG2c.1089G>T
c.1208G>T (p.Arg403Leu)
c.1171G>T
n.342G>T
c.803G>T (p.Arg268Leu)
c.1088G>T (p.Arg363Leu)
c.965G>T
c.479G>T (p.Arg160Leu)
c.1016G>T (p.Arg339Leu)
c.*288G>T (n.*288G>T)
c.1022G>T (p.Arg341Leu)
n.386G>T
n.3619G>T
c.526G>T
c.1001G>T (p.Arg334Leu)
c.*690G>T (n.*690G>T)
c.1209G>T (n.1209G>T)
c.1079G>T (p.Arg360Leu)
c.923-2457G>T (n.923-2457G>T)
c.1085G>T (p.Arg362Leu)
c.1127G>T (p.Arg376Leu)
c.668G>T (p.Arg223Leu)
5g.162149273_162149275dupCA2676329347GABRG2c.1089_1091dup
c.1208_1210dup (p.Arg403_Lys404insArg)
c.1171_1173dup
n.342_344dup
c.803_805dup (p.Arg268_Lys269insArg)
c.1088_1090dup (p.Arg363_Lys364insArg)
c.965_967dup
c.479_481dup (p.Arg160_Lys161insArg)
c.1016_1018dup (p.Arg339_Lys340insArg)
c.*288_*290dup (n.*288_*290dup)
c.1022_1024dup (p.Arg341_Lys342insArg)
n.386_388dup
n.3619_3621dup
c.526_528dup
c.1001_1003dup (p.Arg334_Lys335insArg)
c.*690_*692dup (n.*690_*692dup)
c.1209_1211dup (n.1209_1211dup)
c.1079_1081dup (p.Arg360_Lys361insArg)
c.923-2457_923-2455dup (n.923-2457_923-2455dup)
c.1085_1087dup (p.Arg362_Lys363insArg)
c.1127_1129dup (p.Arg376_Lys377insArg)
c.668_670dup (p.Arg223_Lys224insArg)
 gnomAD v4
5g.162149274G>ACA447610336GABRG2c.1090G>A
c.1209G>A (p.Arg403=)
c.1172G>A
n.343G>A
c.804G>A (p.Arg268=)
c.1089G>A (p.Arg363=)
c.966G>A
c.480G>A (p.Arg160=)
c.1017G>A (p.Arg339=)
c.*289G>A (n.*289G>A)
c.1023G>A (p.Arg341=)
n.387G>A
n.3620G>A
c.527G>A
c.1002G>A (p.Arg334=)
c.*691G>A (n.*691G>A)
c.1210G>A (n.1210G>A)
c.1080G>A (p.Arg360=)
c.923-2456G>A (n.923-2456G>A)
c.1086G>A (p.Arg362=)
c.1128G>A (p.Arg376=)
c.669G>A (p.Arg223=)
5g.162149274G>CCA447610337GABRG2c.1090G>C
c.1209G>C (p.Arg403=)
c.1172G>C
n.343G>C
c.804G>C (p.Arg268=)
c.1089G>C (p.Arg363=)
c.966G>C
c.480G>C (p.Arg160=)
c.1017G>C (p.Arg339=)
c.*289G>C (n.*289G>C)
c.1023G>C (p.Arg341=)
n.387G>C
n.3620G>C
c.527G>C
c.1002G>C (p.Arg334=)
c.*691G>C (n.*691G>C)
c.1210G>C (n.1210G>C)
c.1080G>C (p.Arg360=)
c.923-2456G>C (n.923-2456G>C)
c.1086G>C (p.Arg362=)
c.1128G>C (p.Arg376=)
c.669G>C (p.Arg223=)
5g.162149274G>TCA447610338GABRG2c.1090G>T
c.1209G>T (p.Arg403=)
c.1172G>T
n.343G>T
c.804G>T (p.Arg268=)
c.1089G>T (p.Arg363=)
c.966G>T
c.480G>T (p.Arg160=)
c.1017G>T (p.Arg339=)
c.*289G>T (n.*289G>T)
c.1023G>T (p.Arg341=)
n.387G>T
n.3620G>T
c.527G>T
c.1002G>T (p.Arg334=)
c.*691G>T (n.*691G>T)
c.1210G>T (n.1210G>T)
c.1080G>T (p.Arg360=)
c.923-2456G>T (n.923-2456G>T)
c.1086G>T (p.Arg362=)
c.1128G>T (p.Arg376=)
c.669G>T (p.Arg223=)
5g.162149275A>CCA362182654GABRG2c.1091A>C
c.1210A>C (p.Lys404Gln)
c.1173A>C
n.344A>C
c.805A>C (p.Lys269Gln)
c.1090A>C (p.Lys364Gln)
c.967A>C
c.481A>C (p.Lys161Gln)
c.1018A>C (p.Lys340Gln)
c.*290A>C (n.*290A>C)
c.1024A>C (p.Lys342Gln)
n.388A>C
n.3621A>C
c.528A>C
c.1003A>C (p.Lys335Gln)
c.*692A>C (n.*692A>C)
c.1211A>C (n.1211A>C)
c.1081A>C (p.Lys361Gln)
c.923-2455A>C (n.923-2455A>C)
c.1087A>C (p.Lys363Gln)
c.1129A>C (p.Lys377Gln)
c.670A>C (p.Lys224Gln)
5g.162149275A>GCA362182655GABRG2c.1091A>G
c.1210A>G (p.Lys404Glu)
c.1173A>G
n.344A>G
c.805A>G (p.Lys269Glu)
c.1090A>G (p.Lys364Glu)
c.967A>G
c.481A>G (p.Lys161Glu)
c.1018A>G (p.Lys340Glu)
c.*290A>G (n.*290A>G)
c.1024A>G (p.Lys342Glu)
n.388A>G
n.3621A>G
c.528A>G
c.1003A>G (p.Lys335Glu)
c.*692A>G (n.*692A>G)
c.1211A>G (n.1211A>G)
c.1081A>G (p.Lys361Glu)
c.923-2455A>G (n.923-2455A>G)
c.1087A>G (p.Lys363Glu)
c.1129A>G (p.Lys377Glu)
c.670A>G (p.Lys224Glu)
5g.162149275A>TCA362182656GABRG2c.1091A>T
c.1210A>T (p.Lys404Ter)
c.1173A>T
n.344A>T
c.805A>T (p.Lys269Ter)
c.1090A>T (p.Lys364Ter)
c.967A>T
c.481A>T (p.Lys161Ter)
c.1018A>T (p.Lys340Ter)
c.*290A>T (n.*290A>T)
c.1024A>T (p.Lys342Ter)
n.388A>T
n.3621A>T
c.528A>T
c.1003A>T (p.Lys335Ter)
c.*692A>T (n.*692A>T)
c.1211A>T (n.1211A>T)
c.1081A>T (p.Lys361Ter)
c.923-2455A>T (n.923-2455A>T)
c.1087A>T (p.Lys363Ter)
c.1129A>T (p.Lys377Ter)
c.670A>T (p.Lys224Ter)
5g.162149276A>CCA362182657GABRG2c.1092A>C
c.1211A>C (p.Lys404Thr)
c.1174A>C
n.345A>C
c.806A>C (p.Lys269Thr)
c.1091A>C (p.Lys364Thr)
c.968A>C
c.482A>C (p.Lys161Thr)
c.1019A>C (p.Lys340Thr)
c.*291A>C (n.*291A>C)
c.1025A>C (p.Lys342Thr)
n.389A>C
n.3622A>C
c.529A>C
c.1004A>C (p.Lys335Thr)
c.*693A>C (n.*693A>C)
c.1212A>C (n.1212A>C)
c.1082A>C (p.Lys361Thr)
c.923-2454A>C (n.923-2454A>C)
c.1088A>C (p.Lys363Thr)
c.1130A>C (p.Lys377Thr)
c.671A>C (p.Lys224Thr)
5g.162149276A>GCA362182658GABRG2c.1092A>G
c.1211A>G (p.Lys404Arg)
c.1174A>G
n.345A>G
c.806A>G (p.Lys269Arg)
c.1091A>G (p.Lys364Arg)
c.968A>G
c.482A>G (p.Lys161Arg)
c.1019A>G (p.Lys340Arg)
c.*291A>G (n.*291A>G)
c.1025A>G (p.Lys342Arg)
n.389A>G
n.3622A>G
c.529A>G
c.1004A>G (p.Lys335Arg)
c.*693A>G (n.*693A>G)
c.1212A>G (n.1212A>G)
c.1082A>G (p.Lys361Arg)
c.923-2454A>G (n.923-2454A>G)
c.1088A>G (p.Lys363Arg)
c.1130A>G (p.Lys377Arg)
c.671A>G (p.Lys224Arg)
5g.162149276A>TCA362182659GABRG2c.1092A>T
c.1211A>T (p.Lys404Ile)
c.1174A>T
n.345A>T
c.806A>T (p.Lys269Ile)
c.1091A>T (p.Lys364Ile)
c.968A>T
c.482A>T (p.Lys161Ile)
c.1019A>T (p.Lys340Ile)
c.*291A>T (n.*291A>T)
c.1025A>T (p.Lys342Ile)
n.389A>T
n.3622A>T
c.529A>T
c.1004A>T (p.Lys335Ile)
c.*693A>T (n.*693A>T)
c.1212A>T (n.1212A>T)
c.1082A>T (p.Lys361Ile)
c.923-2454A>T (n.923-2454A>T)
c.1088A>T (p.Lys363Ile)
c.1130A>T (p.Lys377Ile)
c.671A>T (p.Lys224Ile)
5g.162149277A>CCA362182660GABRG2c.1093A>C
c.1212A>C (p.Lys404Asn)
c.1175A>C
n.346A>C
c.807A>C (p.Lys269Asn)
c.1092A>C (p.Lys364Asn)
c.969A>C
c.483A>C (p.Lys161Asn)
c.1020A>C (p.Lys340Asn)
c.*292A>C (n.*292A>C)
c.1026A>C (p.Lys342Asn)
n.390A>C
n.3623A>C
c.530A>C
c.1005A>C (p.Lys335Asn)
c.*694A>C (n.*694A>C)
c.1213A>C (n.1213A>C)
c.1083A>C (p.Lys361Asn)
c.923-2453A>C (n.923-2453A>C)
c.1089A>C (p.Lys363Asn)
c.1131A>C (p.Lys377Asn)
c.672A>C (p.Lys224Asn)
5g.162149277A>GCA447610339GABRG2c.1093A>G
c.1212A>G (p.Lys404=)
c.1175A>G
n.346A>G
c.807A>G (p.Lys269=)
c.1092A>G (p.Lys364=)
c.969A>G
c.483A>G (p.Lys161=)
c.1020A>G (p.Lys340=)
c.*292A>G (n.*292A>G)
c.1026A>G (p.Lys342=)
n.390A>G
n.3623A>G
c.530A>G
c.1005A>G (p.Lys335=)
c.*694A>G (n.*694A>G)
c.1213A>G (n.1213A>G)
c.1083A>G (p.Lys361=)
c.923-2453A>G (n.923-2453A>G)
c.1089A>G (p.Lys363=)
c.1131A>G (p.Lys377=)
c.672A>G (p.Lys224=)
 gnomAD v4
5g.162149277A>TCA362182661GABRG2c.1093A>T
c.1212A>T (p.Lys404Asn)
c.1175A>T
n.346A>T
c.807A>T (p.Lys269Asn)
c.1092A>T (p.Lys364Asn)
c.969A>T
c.483A>T (p.Lys161Asn)
c.1020A>T (p.Lys340Asn)
c.*292A>T (n.*292A>T)
c.1026A>T (p.Lys342Asn)
n.390A>T
n.3623A>T
c.530A>T
c.1005A>T (p.Lys335Asn)
c.*694A>T (n.*694A>T)
c.1213A>T (n.1213A>T)
c.1083A>T (p.Lys361Asn)
c.923-2453A>T (n.923-2453A>T)
c.1089A>T (p.Lys363Asn)
c.1131A>T (p.Lys377Asn)
c.672A>T (p.Lys224Asn)
5g.162149278C>ACA362182663GABRG2c.1094C>A
c.1213C>A (p.Pro405Thr)
c.1176C>A
n.347C>A
c.808C>A (p.Pro270Thr)
c.1093C>A (p.Pro365Thr)
c.970C>A
c.484C>A (p.Pro162Thr)
c.1021C>A (p.Pro341Thr)
c.*293C>A (n.*293C>A)
c.1027C>A (p.Pro343Thr)
n.391C>A
n.3624C>A
c.531C>A
c.1006C>A (p.Pro336Thr)
c.*695C>A (n.*695C>A)
c.1214C>A (n.1214C>A)
c.1084C>A (p.Pro362Thr)
c.923-2452C>A (n.923-2452C>A)
c.1090C>A (p.Pro364Thr)
c.1132C>A (p.Pro378Thr)
c.673C>A (p.Pro225Thr)
 gnomAD v4
5g.162149278C=CA1596380283GABRG2c.1094C=
c.1213C= (p.Pro405=)
c.1176C=
n.347C=
c.808C= (p.Pro270=)
c.1093C= (p.Pro365=)
c.970C=
c.484C= (p.Pro162=)
c.1021C= (p.Pro341=)
c.*293C= (n.*293C=)
c.1027C= (p.Pro343=)
n.391C=
n.3624C=
c.531C=
c.1006C= (p.Pro336=)
c.*695C= (n.*695C=)
c.1214C= (n.1214C=)
c.1084C= (p.Pro362=)
c.923-2452C= (n.923-2452C=)
c.1090C= (p.Pro364=)
c.1132C= (p.Pro378=)
c.673C= (p.Pro225=)
5g.162149278C>GCA362182662GABRG2c.1094C>G
c.1213C>G (p.Pro405Ala)
c.1176C>G
n.347C>G
c.808C>G (p.Pro270Ala)
c.1093C>G (p.Pro365Ala)
c.970C>G
c.484C>G (p.Pro162Ala)
c.1021C>G (p.Pro341Ala)
c.*293C>G (n.*293C>G)
c.1027C>G (p.Pro343Ala)
n.391C>G
n.3624C>G
c.531C>G
c.1006C>G (p.Pro336Ala)
c.*695C>G (n.*695C>G)
c.1214C>G (n.1214C>G)
c.1084C>G (p.Pro362Ala)
c.923-2452C>G (n.923-2452C>G)
c.1090C>G (p.Pro364Ala)
c.1132C>G (p.Pro378Ala)
c.673C>G (p.Pro225Ala)
5g.162149278C>TCA3544870GABRG2c.1094C>T
c.1213C>T (p.Pro405Ser)
c.1176C>T
n.347C>T
c.808C>T (p.Pro270Ser)
c.1093C>T (p.Pro365Ser)
c.970C>T
c.484C>T (p.Pro162Ser)
c.1021C>T (p.Pro341Ser)
c.*293C>T (n.*293C>T)
c.1027C>T (p.Pro343Ser)
n.391C>T
n.3624C>T
c.531C>T
c.1006C>T (p.Pro336Ser)
c.*695C>T (n.*695C>T)
c.1214C>T (n.1214C>T)
c.1084C>T (p.Pro362Ser)
c.923-2452C>T (n.923-2452C>T)
c.1090C>T (p.Pro364Ser)
c.1132C>T (p.Pro378Ser)
c.673C>T (p.Pro225Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.162149279C>ACA362182665GABRG2c.1095C>A
c.1214C>A (p.Pro405Gln)
c.1177C>A
n.348C>A
c.809C>A (p.Pro270Gln)
c.1094C>A (p.Pro365Gln)
c.971C>A
c.485C>A (p.Pro162Gln)
c.1022C>A (p.Pro341Gln)
c.*294C>A (n.*294C>A)
c.1028C>A (p.Pro343Gln)
n.392C>A
n.3625C>A
c.532C>A
c.1007C>A (p.Pro336Gln)
c.*696C>A (n.*696C>A)
c.1215C>A (n.1215C>A)
c.1085C>A (p.Pro362Gln)
c.923-2451C>A (n.923-2451C>A)
c.1091C>A (p.Pro364Gln)
c.1133C>A (p.Pro378Gln)
c.674C>A (p.Pro225Gln)
 dbSNP gnomAD v4
5g.162149279C=CA1596380284GABRG2c.1095C=
c.1214C= (p.Pro405=)
c.1177C=
n.348C=
c.809C= (p.Pro270=)
c.1094C= (p.Pro365=)
c.971C=
c.485C= (p.Pro162=)
c.1022C= (p.Pro341=)
c.*294C= (n.*294C=)
c.1028C= (p.Pro343=)
n.392C=
n.3625C=
c.532C=
c.1007C= (p.Pro336=)
c.*696C= (n.*696C=)
c.1215C= (n.1215C=)
c.1085C= (p.Pro362=)
c.923-2451C= (n.923-2451C=)
c.1091C= (p.Pro364=)
c.1133C= (p.Pro378=)
c.674C= (p.Pro225=)
5g.162149279C>GCA362182664GABRG2c.1095C>G
c.1214C>G (p.Pro405Arg)
c.1177C>G
n.348C>G
c.809C>G (p.Pro270Arg)
c.1094C>G (p.Pro365Arg)
c.971C>G
c.485C>G (p.Pro162Arg)
c.1022C>G (p.Pro341Arg)
c.*294C>G (n.*294C>G)
c.1028C>G (p.Pro343Arg)
n.392C>G
n.3625C>G
c.532C>G
c.1007C>G (p.Pro336Arg)
c.*696C>G (n.*696C>G)
c.1215C>G (n.1215C>G)
c.1085C>G (p.Pro362Arg)
c.923-2451C>G (n.923-2451C>G)
c.1091C>G (p.Pro364Arg)
c.1133C>G (p.Pro378Arg)
c.674C>G (p.Pro225Arg)
5g.162149279C>TCA362182666GABRG2c.1095C>T
c.1214C>T (p.Pro405Leu)
c.1177C>T
n.348C>T
c.809C>T (p.Pro270Leu)
c.1094C>T (p.Pro365Leu)
c.971C>T
c.485C>T (p.Pro162Leu)
c.1022C>T (p.Pro341Leu)
c.*294C>T (n.*294C>T)
c.1028C>T (p.Pro343Leu)
n.392C>T
n.3625C>T
c.532C>T
c.1007C>T (p.Pro336Leu)
c.*696C>T (n.*696C>T)
c.1215C>T (n.1215C>T)
c.1085C>T (p.Pro362Leu)
c.923-2451C>T (n.923-2451C>T)
c.1091C>T (p.Pro364Leu)
c.1133C>T (p.Pro378Leu)
c.674C>T (p.Pro225Leu)
5g.162149280A>CCA447610342GABRG2c.1096A>C
c.1215A>C (p.Pro405=)
c.1178A>C
n.349A>C
c.810A>C (p.Pro270=)
c.1095A>C (p.Pro365=)
c.972A>C
c.486A>C (p.Pro162=)
c.1023A>C (p.Pro341=)
c.*295A>C (n.*295A>C)
c.1029A>C (p.Pro343=)
n.393A>C
n.3626A>C
c.533A>C
c.1008A>C (p.Pro336=)
c.*697A>C (n.*697A>C)
c.1216A>C (n.1216A>C)
c.1086A>C (p.Pro362=)
c.923-2450A>C (n.923-2450A>C)
c.1092A>C (p.Pro364=)
c.1134A>C (p.Pro378=)
c.675A>C (p.Pro225=)
5g.162149280A>GCA447610341GABRG2c.1096A>G
c.1215A>G (p.Pro405=)
c.1178A>G
n.349A>G
c.810A>G (p.Pro270=)
c.1095A>G (p.Pro365=)
c.972A>G
c.486A>G (p.Pro162=)
c.1023A>G (p.Pro341=)
c.*295A>G (n.*295A>G)
c.1029A>G (p.Pro343=)
n.393A>G
n.3626A>G
c.533A>G
c.1008A>G (p.Pro336=)
c.*697A>G (n.*697A>G)
c.1216A>G (n.1216A>G)
c.1086A>G (p.Pro362=)
c.923-2450A>G (n.923-2450A>G)
c.1092A>G (p.Pro364=)
c.1134A>G (p.Pro378=)
c.675A>G (p.Pro225=)
5g.162149280A>TCA447610340GABRG2c.1096A>T
c.1215A>T (p.Pro405=)
c.1178A>T
n.349A>T
c.810A>T (p.Pro270=)
c.1095A>T (p.Pro365=)
c.972A>T
c.486A>T (p.Pro162=)
c.1023A>T (p.Pro341=)
c.*295A>T (n.*295A>T)
c.1029A>T (p.Pro343=)
n.393A>T
n.3626A>T
c.533A>T
c.1008A>T (p.Pro336=)
c.*697A>T (n.*697A>T)
c.1216A>T (n.1216A>T)
c.1086A>T (p.Pro362=)
c.923-2450A>T (n.923-2450A>T)
c.1092A>T (p.Pro364=)
c.1134A>T (p.Pro378=)
c.675A>T (p.Pro225=)
5g.162149281A=CA1596380285GABRG2c.1097A=
c.1216A= (p.Ser406=)
c.1179A=
n.350A=
c.811A= (p.Ser271=)
c.1096A= (p.Ser366=)
c.973A=
c.487A= (p.Ser163=)
c.1024A= (p.Ser342=)
c.*296A= (n.*296A=)
c.1030A= (p.Ser344=)
n.394A=
n.3627A=
c.534A=
c.1009A= (p.Ser337=)
c.*698A= (n.*698A=)
c.1217A= (n.1217A=)
c.1087A= (p.Ser363=)
c.923-2449A= (n.923-2449A=)
c.1093A= (p.Ser365=)
c.1135A= (p.Ser379=)
c.676A= (p.Ser226=)
5g.162149281A>CCA362182667GABRG2c.1097A>C
c.1216A>C (p.Ser406Arg)
c.1179A>C
n.350A>C
c.811A>C (p.Ser271Arg)
c.1096A>C (p.Ser366Arg)
c.973A>C
c.487A>C (p.Ser163Arg)
c.1024A>C (p.Ser342Arg)
c.*296A>C (n.*296A>C)
c.1030A>C (p.Ser344Arg)
n.394A>C
n.3627A>C
c.534A>C
c.1009A>C (p.Ser337Arg)
c.*698A>C (n.*698A>C)
c.1217A>C (n.1217A>C)
c.1087A>C (p.Ser363Arg)
c.923-2449A>C (n.923-2449A>C)
c.1093A>C (p.Ser365Arg)
c.1135A>C (p.Ser379Arg)
c.676A>C (p.Ser226Arg)
 dbSNP
5g.162149281A>GCA362182669GABRG2c.1097A>G
c.1216A>G (p.Ser406Gly)
c.1179A>G
n.350A>G
c.811A>G (p.Ser271Gly)
c.1096A>G (p.Ser366Gly)
c.973A>G
c.487A>G (p.Ser163Gly)
c.1024A>G (p.Ser342Gly)
c.*296A>G (n.*296A>G)
c.1030A>G (p.Ser344Gly)
n.394A>G
n.3627A>G
c.534A>G
c.1009A>G (p.Ser337Gly)
c.*698A>G (n.*698A>G)
c.1217A>G (n.1217A>G)
c.1087A>G (p.Ser363Gly)
c.923-2449A>G (n.923-2449A>G)
c.1093A>G (p.Ser365Gly)
c.1135A>G (p.Ser379Gly)
c.676A>G (p.Ser226Gly)
5g.162149281A>TCA362182668GABRG2c.1097A>T
c.1216A>T (p.Ser406Cys)
c.1179A>T
n.350A>T
c.811A>T (p.Ser271Cys)
c.1096A>T (p.Ser366Cys)
c.973A>T
c.487A>T (p.Ser163Cys)
c.1024A>T (p.Ser342Cys)
c.*296A>T (n.*296A>T)
c.1030A>T (p.Ser344Cys)
n.394A>T
n.3627A>T
c.534A>T
c.1009A>T (p.Ser337Cys)
c.*698A>T (n.*698A>T)
c.1217A>T (n.1217A>T)
c.1087A>T (p.Ser363Cys)
c.923-2449A>T (n.923-2449A>T)
c.1093A>T (p.Ser365Cys)
c.1135A>T (p.Ser379Cys)
c.676A>T (p.Ser226Cys)
5g.162149282G>ACA362182670GABRG2c.1098G>A
c.1217G>A (p.Ser406Asn)
c.1180G>A
n.351G>A
c.812G>A (p.Ser271Asn)
c.1097G>A (p.Ser366Asn)
c.974G>A
c.488G>A (p.Ser163Asn)
c.1025G>A (p.Ser342Asn)
c.*297G>A (n.*297G>A)
c.1031G>A (p.Ser344Asn)
n.395G>A
n.3628G>A
c.535G>A
c.1010G>A (p.Ser337Asn)
c.*699G>A (n.*699G>A)
c.1218G>A (n.1218G>A)
c.1088G>A (p.Ser363Asn)
c.923-2448G>A (n.923-2448G>A)
c.1094G>A (p.Ser365Asn)
c.1136G>A (p.Ser379Asn)
c.677G>A (p.Ser226Asn)
 dbSNP
5g.162149282G>CCA362182671GABRG2c.1098G>C
c.1217G>C (p.Ser406Thr)
c.1180G>C
n.351G>C
c.812G>C (p.Ser271Thr)
c.1097G>C (p.Ser366Thr)
c.974G>C
c.488G>C (p.Ser163Thr)
c.1025G>C (p.Ser342Thr)
c.*297G>C (n.*297G>C)
c.1031G>C (p.Ser344Thr)
n.395G>C
n.3628G>C
c.535G>C
c.1010G>C (p.Ser337Thr)
c.*699G>C (n.*699G>C)
c.1218G>C (n.1218G>C)
c.1088G>C (p.Ser363Thr)
c.923-2448G>C (n.923-2448G>C)
c.1094G>C (p.Ser365Thr)
c.1136G>C (p.Ser379Thr)
c.677G>C (p.Ser226Thr)
5g.162149282G>TCA362182672GABRG2c.1098G>T
c.1217G>T (p.Ser406Ile)
c.1180G>T
n.351G>T
c.812G>T (p.Ser271Ile)
c.1097G>T (p.Ser366Ile)
c.974G>T
c.488G>T (p.Ser163Ile)
c.1025G>T (p.Ser342Ile)
c.*297G>T (n.*297G>T)
c.1031G>T (p.Ser344Ile)
n.395G>T
n.3628G>T
c.535G>T
c.1010G>T (p.Ser337Ile)
c.*699G>T (n.*699G>T)
c.1218G>T (n.1218G>T)
c.1088G>T (p.Ser363Ile)
c.923-2448G>T (n.923-2448G>T)
c.1094G>T (p.Ser365Ile)
c.1136G>T (p.Ser379Ile)
c.677G>T (p.Ser226Ile)
5g.162149283C>ACA362182673GABRG2c.1099C>A
c.1218C>A (p.Ser406Arg)
c.1181C>A
n.352C>A
c.813C>A (p.Ser271Arg)
c.1098C>A (p.Ser366Arg)
c.975C>A
c.489C>A (p.Ser163Arg)
c.1026C>A (p.Ser342Arg)
c.*298C>A (n.*298C>A)
c.1032C>A (p.Ser344Arg)
n.396C>A
n.3629C>A
c.536C>A
c.1011C>A (p.Ser337Arg)
c.*700C>A (n.*700C>A)
c.1219C>A (n.1219C>A)
c.1089C>A (p.Ser363Arg)
c.923-2447C>A (n.923-2447C>A)
c.1095C>A (p.Ser365Arg)
c.1137C>A (p.Ser379Arg)
c.678C>A (p.Ser226Arg)
5g.162149283C=CA1596380286GABRG2c.1099C=
c.1218C= (p.Ser406=)
c.1181C=
n.352C=
c.813C= (p.Ser271=)
c.1098C= (p.Ser366=)
c.975C=
c.489C= (p.Ser163=)
c.1026C= (p.Ser342=)
c.*298C= (n.*298C=)
c.1032C= (p.Ser344=)
n.396C=
n.3629C=
c.536C=
c.1011C= (p.Ser337=)
c.*700C= (n.*700C=)
c.1219C= (n.1219C=)
c.1089C= (p.Ser363=)
c.923-2447C= (n.923-2447C=)
c.1095C= (p.Ser365=)
c.1137C= (p.Ser379=)
c.678C= (p.Ser226=)
5g.162149283C>GCA131117322GABRG2c.1099C>G
c.1218C>G (p.Ser406Arg)
c.1181C>G
n.352C>G
c.813C>G (p.Ser271Arg)
c.1098C>G (p.Ser366Arg)
c.975C>G
c.489C>G (p.Ser163Arg)
c.1026C>G (p.Ser342Arg)
c.*298C>G (n.*298C>G)
c.1032C>G (p.Ser344Arg)
n.396C>G
n.3629C>G
c.536C>G
c.1011C>G (p.Ser337Arg)
c.*700C>G (n.*700C>G)
c.1219C>G (n.1219C>G)
c.1089C>G (p.Ser363Arg)
c.923-2447C>G (n.923-2447C>G)
c.1095C>G (p.Ser365Arg)
c.1137C>G (p.Ser379Arg)
c.678C>G (p.Ser226Arg)
 dbSNP
5g.162149283C>TCA447610343GABRG2c.1099C>T
c.1218C>T (p.Ser406=)
c.1181C>T
n.352C>T
c.813C>T (p.Ser271=)
c.1098C>T (p.Ser366=)
c.975C>T
c.489C>T (p.Ser163=)
c.1026C>T (p.Ser342=)
c.*298C>T (n.*298C>T)
c.1032C>T (p.Ser344=)
n.396C>T
n.3629C>T
c.536C>T
c.1011C>T (p.Ser337=)
c.*700C>T (n.*700C>T)
c.1219C>T (n.1219C>T)
c.1089C>T (p.Ser363=)
c.923-2447C>T (n.923-2447C>T)
c.1095C>T (p.Ser365=)
c.1137C>T (p.Ser379=)
c.678C>T (p.Ser226=)
 gnomAD v4
5g.162149284A>CCA362182674GABRG2c.1100A>C
c.1219A>C (p.Lys407Gln)
c.1182A>C
n.353A>C
c.814A>C (p.Lys272Gln)
c.1099A>C (p.Lys367Gln)
c.976A>C
c.490A>C (p.Lys164Gln)
c.1027A>C (p.Lys343Gln)
c.*299A>C (n.*299A>C)
c.1033A>C (p.Lys345Gln)
n.397A>C
n.3630A>C
c.537A>C
c.1012A>C (p.Lys338Gln)
c.*701A>C (n.*701A>C)
c.1220A>C (n.1220A>C)
c.1090A>C (p.Lys364Gln)
c.923-2446A>C (n.923-2446A>C)
c.1096A>C (p.Lys366Gln)
c.1138A>C (p.Lys380Gln)
c.679A>C (p.Lys227Gln)
5g.162149284A>GCA362182675GABRG2c.1100A>G
c.1219A>G (p.Lys407Glu)
c.1182A>G
n.353A>G
c.814A>G (p.Lys272Glu)
c.1099A>G (p.Lys367Glu)
c.976A>G
c.490A>G (p.Lys164Glu)
c.1027A>G (p.Lys343Glu)
c.*299A>G (n.*299A>G)
c.1033A>G (p.Lys345Glu)
n.397A>G
n.3630A>G
c.537A>G
c.1012A>G (p.Lys338Glu)
c.*701A>G (n.*701A>G)
c.1220A>G (n.1220A>G)
c.1090A>G (p.Lys364Glu)
c.923-2446A>G (n.923-2446A>G)
c.1096A>G (p.Lys366Glu)
c.1138A>G (p.Lys380Glu)
c.679A>G (p.Lys227Glu)
 gnomAD v4
5g.162149284A>TCA362182676GABRG2c.1100A>T
c.1219A>T (p.Lys407Ter)
c.1182A>T
n.353A>T
c.814A>T (p.Lys272Ter)
c.1099A>T (p.Lys367Ter)
c.976A>T
c.490A>T (p.Lys164Ter)
c.1027A>T (p.Lys343Ter)
c.*299A>T (n.*299A>T)
c.1033A>T (p.Lys345Ter)
n.397A>T
n.3630A>T
c.537A>T
c.1012A>T (p.Lys338Ter)
c.*701A>T (n.*701A>T)
c.1220A>T (n.1220A>T)
c.1090A>T (p.Lys364Ter)
c.923-2446A>T (n.923-2446A>T)
c.1096A>T (p.Lys366Ter)
c.1138A>T (p.Lys380Ter)
c.679A>T (p.Lys227Ter)
5g.162149284_162149285insCACCCCA2769171562GABRG2c.1100_1101insCACCC
c.1219_1220insCACCC (p.Lys407ThrfsTer27)
c.1182_1183insCACCC
n.353_354insCACCC
c.814_815insCACCC (p.Lys272ThrfsTer27)
c.814_815insCACCC (p.Lys272ThrfsTer?)
c.1099_1100insCACCC (p.Lys367ThrfsTer29)
c.976_977insCACCC
c.490_491insCACCC (p.Lys164ThrfsTer27)
c.1099_1100insCACCC (p.Lys367ThrfsTer27)
c.1099_1100insCACCC (p.Lys367ThrfsTer?)
c.1027_1028insCACCC (p.Lys343ThrfsTer17)
c.*299_*300insCACCC (n.*299_*300insCACCC)
c.1033_1034insCACCC (p.Lys345ThrfsTer?)
c.1033_1034insCACCC (p.Lys345ThrfsTer27)
n.397_398insCACCC
c.814_815insCACCC (p.Lys272ThrfsTer29)
n.3630_3631insCACCC
c.537_538insCACCC
c.1012_1013insCACCC (p.Lys338ThrfsTer?)
c.1099_1100insCACCC (p.Lys367ThrfsTer32)
c.1219_1220insCACCC (p.Lys407ThrfsTer?)
c.*701_*702insCACCC (n.*701_*702insCACCC)
c.1220_1221insCACCC (n.1220_1221insCACCC)
c.1090_1091insCACCC (p.Lys364ThrfsTer?)
c.923-2446_923-2445insCACCC (n.923-2446_923-2445insCACCC)
c.1096_1097insCACCC (p.Lys366ThrfsTer?)
c.1096_1097insCACCC (p.Lys366ThrfsTer27)
c.1138_1139insCACCC (p.Lys380ThrfsTer?)
c.679_680insCACCC (p.Lys227ThrfsTer27)
c.679_680insCACCC (p.Lys227ThrfsTer?)
5g.162149285A>CCA362182677GABRG2c.1101A>C
c.1220A>C (p.Lys407Thr)
c.1183A>C
n.354A>C
c.815A>C (p.Lys272Thr)
c.1100A>C (p.Lys367Thr)
c.977A>C
c.491A>C (p.Lys164Thr)
c.1028A>C (p.Lys343Thr)
c.*300A>C (n.*300A>C)
c.1034A>C (p.Lys345Thr)
n.398A>C
n.3631A>C
c.538A>C
c.1013A>C (p.Lys338Thr)
c.*702A>C (n.*702A>C)
c.1221A>C (n.1221A>C)
c.1091A>C (p.Lys364Thr)
c.923-2445A>C (n.923-2445A>C)
c.1097A>C (p.Lys366Thr)
c.1139A>C (p.Lys380Thr)
c.680A>C (p.Lys227Thr)
5g.162149285A>GCA362182678GABRG2c.1101A>G
c.1220A>G (p.Lys407Arg)
c.1183A>G
n.354A>G
c.815A>G (p.Lys272Arg)
c.1100A>G (p.Lys367Arg)
c.977A>G
c.491A>G (p.Lys164Arg)
c.1028A>G (p.Lys343Arg)
c.*300A>G (n.*300A>G)
c.1034A>G (p.Lys345Arg)
n.398A>G
n.3631A>G
c.538A>G
c.1013A>G (p.Lys338Arg)
c.*702A>G (n.*702A>G)
c.1221A>G (n.1221A>G)
c.1091A>G (p.Lys364Arg)
c.923-2445A>G (n.923-2445A>G)
c.1097A>G (p.Lys366Arg)
c.1139A>G (p.Lys380Arg)
c.680A>G (p.Lys227Arg)
 COSMIC
5g.162149285A>TCA362182679GABRG2c.1101A>T
c.1220A>T (p.Lys407Met)
c.1183A>T
n.354A>T
c.815A>T (p.Lys272Met)
c.1100A>T (p.Lys367Met)
c.977A>T
c.491A>T (p.Lys164Met)
c.1028A>T (p.Lys343Met)
c.*300A>T (n.*300A>T)
c.1034A>T (p.Lys345Met)
n.398A>T
n.3631A>T
c.538A>T
c.1013A>T (p.Lys338Met)
c.*702A>T (n.*702A>T)
c.1221A>T (n.1221A>T)
c.1091A>T (p.Lys364Met)
c.923-2445A>T (n.923-2445A>T)
c.1097A>T (p.Lys366Met)
c.1139A>T (p.Lys380Met)
c.680A>T (p.Lys227Met)
5g.162149286G>ACA447610345GABRG2c.1102G>A
c.1221G>A (p.Lys407=)
c.1184G>A
n.355G>A
c.816G>A (p.Lys272=)
c.1101G>A (p.Lys367=)
c.978G>A
c.492G>A (p.Lys164=)
c.1029G>A (p.Lys343=)
c.*301G>A (n.*301G>A)
c.1035G>A (p.Lys345=)
n.399G>A
n.3632G>A
c.539G>A
c.1014G>A (p.Lys338=)
c.*703G>A (n.*703G>A)
c.1222G>A (n.1222G>A)
c.1092G>A (p.Lys364=)
c.923-2444G>A (n.923-2444G>A)
c.1098G>A (p.Lys366=)
c.1140G>A (p.Lys380=)
c.681G>A (p.Lys227=)
5g.162149286G>CCA362182680GABRG2c.1102G>C
c.1221G>C (p.Lys407Asn)
c.1184G>C
n.355G>C
c.816G>C (p.Lys272Asn)
c.1101G>C (p.Lys367Asn)
c.978G>C
c.492G>C (p.Lys164Asn)
c.1029G>C (p.Lys343Asn)
c.*301G>C (n.*301G>C)
c.1035G>C (p.Lys345Asn)
n.399G>C
n.3632G>C
c.539G>C
c.1014G>C (p.Lys338Asn)
c.*703G>C (n.*703G>C)
c.1222G>C (n.1222G>C)
c.1092G>C (p.Lys364Asn)
c.923-2444G>C (n.923-2444G>C)
c.1098G>C (p.Lys366Asn)
c.1140G>C (p.Lys380Asn)
c.681G>C (p.Lys227Asn)
5g.162149286G>TCA362182681GABRG2c.1102G>T
c.1221G>T (p.Lys407Asn)
c.1184G>T
n.355G>T
c.816G>T (p.Lys272Asn)
c.1101G>T (p.Lys367Asn)
c.978G>T
c.492G>T (p.Lys164Asn)
c.1029G>T (p.Lys343Asn)
c.*301G>T (n.*301G>T)
c.1035G>T (p.Lys345Asn)
n.399G>T
n.3632G>T
c.539G>T
c.1014G>T (p.Lys338Asn)
c.*703G>T (n.*703G>T)
c.1222G>T (n.1222G>T)
c.1092G>T (p.Lys364Asn)
c.923-2444G>T (n.923-2444G>T)
c.1098G>T (p.Lys366Asn)
c.1140G>T (p.Lys380Asn)
c.681G>T (p.Lys227Asn)
5g.162149287G>ACA362182682GABRG2c.1103G>A
c.1222G>A (p.Asp408Asn)
c.1185G>A
n.356G>A
c.817G>A (p.Asp273Asn)
c.1102G>A (p.Asp368Asn)
c.979G>A
c.493G>A (p.Asp165Asn)
c.1030G>A (p.Asp344Asn)
c.*302G>A (n.*302G>A)
c.1036G>A (p.Asp346Asn)
n.400G>A
n.3633G>A
c.540G>A
c.1015G>A (p.Asp339Asn)
c.*704G>A (n.*704G>A)
c.1223G>A (n.1223G>A)
c.1093G>A (p.Asp365Asn)
c.923-2443G>A (n.923-2443G>A)
c.1099G>A (p.Asp367Asn)
c.1141G>A (p.Asp381Asn)
c.682G>A (p.Asp228Asn)
 gnomAD v4 COSMIC
5g.162149287G>CCA362182684GABRG2c.1103G>C
c.1222G>C (p.Asp408His)
c.1185G>C
n.356G>C
c.817G>C (p.Asp273His)
c.1102G>C (p.Asp368His)
c.979G>C
c.493G>C (p.Asp165His)
c.1030G>C (p.Asp344His)
c.*302G>C (n.*302G>C)
c.1036G>C (p.Asp346His)
n.400G>C
n.3633G>C
c.540G>C
c.1015G>C (p.Asp339His)
c.*704G>C (n.*704G>C)
c.1223G>C (n.1223G>C)
c.1093G>C (p.Asp365His)
c.923-2443G>C (n.923-2443G>C)
c.1099G>C (p.Asp367His)
c.1141G>C (p.Asp381His)
c.682G>C (p.Asp228His)
5g.162149287G>TCA362182683GABRG2c.1103G>T
c.1222G>T (p.Asp408Tyr)
c.1185G>T
n.356G>T
c.817G>T (p.Asp273Tyr)
c.1102G>T (p.Asp368Tyr)
c.979G>T
c.493G>T (p.Asp165Tyr)
c.1030G>T (p.Asp344Tyr)
c.*302G>T (n.*302G>T)
c.1036G>T (p.Asp346Tyr)
n.400G>T
n.3633G>T
c.540G>T
c.1015G>T (p.Asp339Tyr)
c.*704G>T (n.*704G>T)
c.1223G>T (n.1223G>T)
c.1093G>T (p.Asp365Tyr)
c.923-2443G>T (n.923-2443G>T)
c.1099G>T (p.Asp367Tyr)
c.1141G>T (p.Asp381Tyr)
c.682G>T (p.Asp228Tyr)
5g.162149288A>CCA362182685GABRG2c.1104A>C
c.1223A>C (p.Asp408Ala)
c.1186A>C
n.357A>C
c.818A>C (p.Asp273Ala)
c.1103A>C (p.Asp368Ala)
c.980A>C
c.494A>C (p.Asp165Ala)
c.1031A>C (p.Asp344Ala)
c.*303A>C (n.*303A>C)
c.1037A>C (p.Asp346Ala)
n.401A>C
n.3634A>C
c.541A>C
c.1016A>C (p.Asp339Ala)
c.*705A>C (n.*705A>C)
c.1224A>C (n.1224A>C)
c.1094A>C (p.Asp365Ala)
c.923-2442A>C (n.923-2442A>C)
c.1100A>C (p.Asp367Ala)
c.1142A>C (p.Asp381Ala)
c.683A>C (p.Asp228Ala)
5g.162149288A>GCA362182686GABRG2c.1104A>G
c.1223A>G (p.Asp408Gly)
c.1186A>G
n.357A>G
c.818A>G (p.Asp273Gly)
c.1103A>G (p.Asp368Gly)
c.980A>G
c.494A>G (p.Asp165Gly)
c.1031A>G (p.Asp344Gly)
c.*303A>G (n.*303A>G)
c.1037A>G (p.Asp346Gly)
n.401A>G
n.3634A>G
c.541A>G
c.1016A>G (p.Asp339Gly)
c.*705A>G (n.*705A>G)
c.1224A>G (n.1224A>G)
c.1094A>G (p.Asp365Gly)
c.923-2442A>G (n.923-2442A>G)
c.1100A>G (p.Asp367Gly)
c.1142A>G (p.Asp381Gly)
c.683A>G (p.Asp228Gly)
5g.162149288A>TCA362182687GABRG2c.1104A>T
c.1223A>T (p.Asp408Val)
c.1186A>T
n.357A>T
c.818A>T (p.Asp273Val)
c.1103A>T (p.Asp368Val)
c.980A>T
c.494A>T (p.Asp165Val)
c.1031A>T (p.Asp344Val)
c.*303A>T (n.*303A>T)
c.1037A>T (p.Asp346Val)
n.401A>T
n.3634A>T
c.541A>T
c.1016A>T (p.Asp339Val)
c.*705A>T (n.*705A>T)
c.1224A>T (n.1224A>T)
c.1094A>T (p.Asp365Val)
c.923-2442A>T (n.923-2442A>T)
c.1100A>T (p.Asp367Val)
c.1142A>T (p.Asp381Val)
c.683A>T (p.Asp228Val)
5g.162149289C>ACA362182688GABRG2c.1105C>A
c.1224C>A (p.Asp408Glu)
c.1187C>A
n.358C>A
c.819C>A (p.Asp273Glu)
c.1104C>A (p.Asp368Glu)
c.981C>A
c.495C>A (p.Asp165Glu)
c.1032C>A (p.Asp344Glu)
c.*304C>A (n.*304C>A)
c.1038C>A (p.Asp346Glu)
n.402C>A
n.3635C>A
c.542C>A
c.1017C>A (p.Asp339Glu)
c.*706C>A (n.*706C>A)
c.1225C>A (n.1225C>A)
c.1095C>A (p.Asp365Glu)
c.923-2441C>A (n.923-2441C>A)
c.1101C>A (p.Asp367Glu)
c.1143C>A (p.Asp381Glu)
c.684C>A (p.Asp228Glu)
5g.162149289C>GCA362182689GABRG2c.1105C>G
c.1224C>G (p.Asp408Glu)
c.1187C>G
n.358C>G
c.819C>G (p.Asp273Glu)
c.1104C>G (p.Asp368Glu)
c.981C>G
c.495C>G (p.Asp165Glu)
c.1032C>G (p.Asp344Glu)
c.*304C>G (n.*304C>G)
c.1038C>G (p.Asp346Glu)
n.402C>G
n.3635C>G
c.542C>G
c.1017C>G (p.Asp339Glu)
c.*706C>G (n.*706C>G)
c.1225C>G (n.1225C>G)
c.1095C>G (p.Asp365Glu)
c.923-2441C>G (n.923-2441C>G)
c.1101C>G (p.Asp367Glu)
c.1143C>G (p.Asp381Glu)
c.684C>G (p.Asp228Glu)
 gnomAD v4
5g.162149289C>TCA447610346GABRG2c.1105C>T
c.1224C>T (p.Asp408=)
c.1187C>T
n.358C>T
c.819C>T (p.Asp273=)
c.1104C>T (p.Asp368=)
c.981C>T
c.495C>T (p.Asp165=)
c.1032C>T (p.Asp344=)
c.*304C>T (n.*304C>T)
c.1038C>T (p.Asp346=)
n.402C>T
n.3635C>T
c.542C>T
c.1017C>T (p.Asp339=)
c.*706C>T (n.*706C>T)
c.1225C>T (n.1225C>T)
c.1095C>T (p.Asp365=)
c.923-2441C>T (n.923-2441C>T)
c.1101C>T (p.Asp367=)
c.1143C>T (p.Asp381=)
c.684C>T (p.Asp228=)
5g.162149290A>CCA362182690GABRG2c.1106A>C
c.1225A>C (p.Lys409Gln)
c.1188A>C
n.359A>C
c.820A>C (p.Lys274Gln)
c.1105A>C (p.Lys369Gln)
c.982A>C
c.496A>C (p.Lys166Gln)
c.1033A>C (p.Lys345Gln)
c.*305A>C (n.*305A>C)
c.1039A>C (p.Lys347Gln)
n.403A>C
n.3636A>C
c.543A>C
c.1018A>C (p.Lys340Gln)
c.*707A>C (n.*707A>C)
c.1226A>C (n.1226A>C)
c.1096A>C (p.Lys366Gln)
c.923-2440A>C (n.923-2440A>C)
c.1102A>C (p.Lys368Gln)
c.1144A>C (p.Lys382Gln)
c.685A>C (p.Lys229Gln)
5g.162149290A>GCA362182691GABRG2c.1106A>G
c.1225A>G (p.Lys409Glu)
c.1188A>G
n.359A>G
c.820A>G (p.Lys274Glu)
c.1105A>G (p.Lys369Glu)
c.982A>G
c.496A>G (p.Lys166Glu)
c.1033A>G (p.Lys345Glu)
c.*305A>G (n.*305A>G)
c.1039A>G (p.Lys347Glu)
n.403A>G
n.3636A>G
c.543A>G
c.1018A>G (p.Lys340Glu)
c.*707A>G (n.*707A>G)
c.1226A>G (n.1226A>G)
c.1096A>G (p.Lys366Glu)
c.923-2440A>G (n.923-2440A>G)
c.1102A>G (p.Lys368Glu)
c.1144A>G (p.Lys382Glu)
c.685A>G (p.Lys229Glu)
5g.162149290A>TCA362182692GABRG2c.1106A>T
c.1225A>T (p.Lys409Ter)
c.1188A>T
n.359A>T
c.820A>T (p.Lys274Ter)
c.1105A>T (p.Lys369Ter)
c.982A>T
c.496A>T (p.Lys166Ter)
c.1033A>T (p.Lys345Ter)
c.*305A>T (n.*305A>T)
c.1039A>T (p.Lys347Ter)
n.403A>T
n.3636A>T
c.543A>T
c.1018A>T (p.Lys340Ter)
c.*707A>T (n.*707A>T)
c.1226A>T (n.1226A>T)
c.1096A>T (p.Lys366Ter)
c.923-2440A>T (n.923-2440A>T)
c.1102A>T (p.Lys368Ter)
c.1144A>T (p.Lys382Ter)
c.685A>T (p.Lys229Ter)
5g.162149291A>CCA362182693GABRG2c.1107A>C
c.1226A>C (p.Lys409Thr)
c.1189A>C
n.360A>C
c.821A>C (p.Lys274Thr)
c.1106A>C (p.Lys369Thr)
c.983A>C
c.497A>C (p.Lys166Thr)
c.1034A>C (p.Lys345Thr)
c.*306A>C (n.*306A>C)
c.1040A>C (p.Lys347Thr)
n.404A>C
n.3637A>C
c.544A>C
c.1019A>C (p.Lys340Thr)
c.*708A>C (n.*708A>C)
c.1227A>C (n.1227A>C)
c.1097A>C (p.Lys366Thr)
c.923-2439A>C (n.923-2439A>C)
c.1103A>C (p.Lys368Thr)
c.1145A>C (p.Lys382Thr)
c.686A>C (p.Lys229Thr)
5g.162149291A>GCA362182694GABRG2c.1107A>G
c.1226A>G (p.Lys409Arg)
c.1189A>G
n.360A>G
c.821A>G (p.Lys274Arg)
c.1106A>G (p.Lys369Arg)
c.983A>G
c.497A>G (p.Lys166Arg)
c.1034A>G (p.Lys345Arg)
c.*306A>G (n.*306A>G)
c.1040A>G (p.Lys347Arg)
n.404A>G
n.3637A>G
c.544A>G
c.1019A>G (p.Lys340Arg)
c.*708A>G (n.*708A>G)
c.1227A>G (n.1227A>G)
c.1097A>G (p.Lys366Arg)
c.923-2439A>G (n.923-2439A>G)
c.1103A>G (p.Lys368Arg)
c.1145A>G (p.Lys382Arg)
c.686A>G (p.Lys229Arg)
5g.162149291A>TCA362182695GABRG2c.1107A>T
c.1226A>T (p.Lys409Ile)
c.1189A>T
n.360A>T
c.821A>T (p.Lys274Ile)
c.1106A>T (p.Lys369Ile)
c.983A>T
c.497A>T (p.Lys166Ile)
c.1034A>T (p.Lys345Ile)
c.*306A>T (n.*306A>T)
c.1040A>T (p.Lys347Ile)
n.404A>T
n.3637A>T
c.544A>T
c.1019A>T (p.Lys340Ile)
c.*708A>T (n.*708A>T)
c.1227A>T (n.1227A>T)
c.1097A>T (p.Lys366Ile)
c.923-2439A>T (n.923-2439A>T)
c.1103A>T (p.Lys368Ile)
c.1145A>T (p.Lys382Ile)
c.686A>T (p.Lys229Ile)
5g.162149292A>CCA362182697GABRG2c.1108A>C
c.1227A>C (p.Lys409Asn)
c.1190A>C
n.361A>C
c.822A>C (p.Lys274Asn)
c.1107A>C (p.Lys369Asn)
c.984A>C
c.498A>C (p.Lys166Asn)
c.1035A>C (p.Lys345Asn)
c.*307A>C (n.*307A>C)
c.1041A>C (p.Lys347Asn)
n.405A>C
n.3638A>C
c.545A>C
c.1020A>C (p.Lys340Asn)
c.*709A>C (n.*709A>C)
c.1228A>C (n.1228A>C)
c.1098A>C (p.Lys366Asn)
c.923-2438A>C (n.923-2438A>C)
c.1104A>C (p.Lys368Asn)
c.1146A>C (p.Lys382Asn)
c.687A>C (p.Lys229Asn)
5g.162149292A>GCA447610347GABRG2c.1108A>G
c.1227A>G (p.Lys409=)
c.1190A>G
n.361A>G
c.822A>G (p.Lys274=)
c.1107A>G (p.Lys369=)
c.984A>G
c.498A>G (p.Lys166=)
c.1035A>G (p.Lys345=)
c.*307A>G (n.*307A>G)
c.1041A>G (p.Lys347=)
n.405A>G
n.3638A>G
c.545A>G
c.1020A>G (p.Lys340=)
c.*709A>G (n.*709A>G)
c.1228A>G (n.1228A>G)
c.1098A>G (p.Lys366=)
c.923-2438A>G (n.923-2438A>G)
c.1104A>G (p.Lys368=)
c.1146A>G (p.Lys382=)
c.687A>G (p.Lys229=)
5g.162149292A>TCA362182696GABRG2c.1108A>T
c.1227A>T (p.Lys409Asn)
c.1190A>T
n.361A>T
c.822A>T (p.Lys274Asn)
c.1107A>T (p.Lys369Asn)
c.984A>T
c.498A>T (p.Lys166Asn)
c.1035A>T (p.Lys345Asn)
c.*307A>T (n.*307A>T)
c.1041A>T (p.Lys347Asn)
n.405A>T
n.3638A>T
c.545A>T
c.1020A>T (p.Lys340Asn)
c.*709A>T (n.*709A>T)
c.1228A>T (n.1228A>T)
c.1098A>T (p.Lys366Asn)
c.923-2438A>T (n.923-2438A>T)
c.1104A>T (p.Lys368Asn)
c.1146A>T (p.Lys382Asn)
c.687A>T (p.Lys229Asn)
5g.162149293G>ACA362182698GABRG2c.1109G>A
c.1228G>A (p.Asp410Asn)
c.1191G>A
n.362G>A
c.823G>A (p.Asp275Asn)
c.1108G>A (p.Asp370Asn)
c.985G>A
c.499G>A (p.Asp167Asn)
c.1036G>A (p.Asp346Asn)
c.*308G>A (n.*308G>A)
c.1042G>A (p.Asp348Asn)
n.406G>A
n.3639G>A
c.546G>A
c.1021G>A (p.Asp341Asn)
c.*710G>A (n.*710G>A)
c.1229G>A (n.1229G>A)
c.1099G>A (p.Asp367Asn)
c.923-2437G>A (n.923-2437G>A)
c.1105G>A (p.Asp369Asn)
c.1147G>A (p.Asp383Asn)
c.688G>A (p.Asp230Asn)
5g.162149293G>CCA362182699GABRG2c.1109G>C
c.1228G>C (p.Asp410His)
c.1191G>C
n.362G>C
c.823G>C (p.Asp275His)
c.1108G>C (p.Asp370His)
c.985G>C
c.499G>C (p.Asp167His)
c.1036G>C (p.Asp346His)
c.*308G>C (n.*308G>C)
c.1042G>C (p.Asp348His)
n.406G>C
n.3639G>C
c.546G>C
c.1021G>C (p.Asp341His)
c.*710G>C (n.*710G>C)
c.1229G>C (n.1229G>C)
c.1099G>C (p.Asp367His)
c.923-2437G>C (n.923-2437G>C)
c.1105G>C (p.Asp369His)
c.1147G>C (p.Asp383His)
c.688G>C (p.Asp230His)
5g.162149293G=CA1596380287GABRG2c.1109G=
c.1228G= (p.Asp410=)
c.1191G=
n.362G=
c.823G= (p.Asp275=)
c.1108G= (p.Asp370=)
c.985G=
c.499G= (p.Asp167=)
c.1036G= (p.Asp346=)
c.*308G= (n.*308G=)
c.1042G= (p.Asp348=)
n.406G=
n.3639G=
c.546G=
c.1021G= (p.Asp341=)
c.*710G= (n.*710G=)
c.1229G= (n.1229G=)
c.1099G= (p.Asp367=)
c.923-2437G= (n.923-2437G=)
c.1105G= (p.Asp369=)
c.1147G= (p.Asp383=)
c.688G= (p.Asp230=)
5g.162149293G>TCA362182700GABRG2c.1109G>T
c.1228G>T (p.Asp410Tyr)
c.1191G>T
n.362G>T
c.823G>T (p.Asp275Tyr)
c.1108G>T (p.Asp370Tyr)
c.985G>T
c.499G>T (p.Asp167Tyr)
c.1036G>T (p.Asp346Tyr)
c.*308G>T (n.*308G>T)
c.1042G>T (p.Asp348Tyr)
n.406G>T
n.3639G>T
c.546G>T
c.1021G>T (p.Asp341Tyr)
c.*710G>T (n.*710G>T)
c.1229G>T (n.1229G>T)
c.1099G>T (p.Asp367Tyr)
c.923-2437G>T (n.923-2437G>T)
c.1105G>T (p.Asp369Tyr)
c.1147G>T (p.Asp383Tyr)
c.688G>T (p.Asp230Tyr)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.162149294A=CA1596380288GABRG2c.1110A=
c.1229A= (p.Asp410=)
c.1192A=
n.363A=
c.824A= (p.Asp275=)
c.1109A= (p.Asp370=)
c.986A=
c.500A= (p.Asp167=)
c.1037A= (p.Asp346=)
c.*309A= (n.*309A=)
c.1043A= (p.Asp348=)
n.407A=
n.3640A=
c.547A=
c.1022A= (p.Asp341=)
c.*711A= (n.*711A=)
c.1230A= (n.1230A=)
c.1100A= (p.Asp367=)
c.923-2436A= (n.923-2436A=)
c.1106A= (p.Asp369=)
c.1148A= (p.Asp383=)
c.689A= (p.Asp230=)
5g.162149294A>CCA362182701GABRG2c.1110A>C
c.1229A>C (p.Asp410Ala)
c.1192A>C
n.363A>C
c.824A>C (p.Asp275Ala)
c.1109A>C (p.Asp370Ala)
c.986A>C
c.500A>C (p.Asp167Ala)
c.1037A>C (p.Asp346Ala)
c.*309A>C (n.*309A>C)
c.1043A>C (p.Asp348Ala)
n.407A>C
n.3640A>C
c.547A>C
c.1022A>C (p.Asp341Ala)
c.*711A>C (n.*711A>C)
c.1230A>C (n.1230A>C)
c.1100A>C (p.Asp367Ala)
c.923-2436A>C (n.923-2436A>C)
c.1106A>C (p.Asp369Ala)
c.1148A>C (p.Asp383Ala)
c.689A>C (p.Asp230Ala)
5g.162149294A>GCA362182702GABRG2c.1110A>G
c.1229A>G (p.Asp410Gly)
c.1192A>G
n.363A>G
c.824A>G (p.Asp275Gly)
c.1109A>G (p.Asp370Gly)
c.986A>G
c.500A>G (p.Asp167Gly)
c.1037A>G (p.Asp346Gly)
c.*309A>G (n.*309A>G)
c.1043A>G (p.Asp348Gly)
n.407A>G
n.3640A>G
c.547A>G
c.1022A>G (p.Asp341Gly)
c.*711A>G (n.*711A>G)
c.1230A>G (n.1230A>G)
c.1100A>G (p.Asp367Gly)
c.923-2436A>G (n.923-2436A>G)
c.1106A>G (p.Asp369Gly)
c.1148A>G (p.Asp383Gly)
c.689A>G (p.Asp230Gly)
5g.162149294A>TCA362182703GABRG2c.1110A>T
c.1229A>T (p.Asp410Val)
c.1192A>T
n.363A>T
c.824A>T (p.Asp275Val)
c.1109A>T (p.Asp370Val)
c.986A>T
c.500A>T (p.Asp167Val)
c.1037A>T (p.Asp346Val)
c.*309A>T (n.*309A>T)
c.1043A>T (p.Asp348Val)
n.407A>T
n.3640A>T
c.547A>T
c.1022A>T (p.Asp341Val)
c.*711A>T (n.*711A>T)
c.1230A>T (n.1230A>T)
c.1100A>T (p.Asp367Val)
c.923-2436A>T (n.923-2436A>T)
c.1106A>T (p.Asp369Val)
c.1148A>T (p.Asp383Val)
c.689A>T (p.Asp230Val)
 dbSNP
5g.162149295T>ACA131117323GABRG2c.1111T>A
c.1230T>A (p.Asp410Glu)
c.1193T>A
n.364T>A
c.825T>A (p.Asp275Glu)
c.1110T>A (p.Asp370Glu)
c.987T>A
c.501T>A (p.Asp167Glu)
c.1038T>A (p.Asp346Glu)
c.*310T>A (n.*310T>A)
c.1044T>A (p.Asp348Glu)
n.408T>A
n.3641T>A
c.548T>A
c.1023T>A (p.Asp341Glu)
c.*712T>A (n.*712T>A)
c.1231T>A (n.1231T>A)
c.1101T>A (p.Asp367Glu)
c.923-2435T>A (n.923-2435T>A)
c.1107T>A (p.Asp369Glu)
c.1149T>A (p.Asp383Glu)
c.690T>A (p.Asp230Glu)
 dbSNP gnomAD v4
5g.162149295T>CCA10606763GABRG2c.1111T>C
c.1230T>C (p.Asp410=)
c.1193T>C
n.364T>C
c.825T>C (p.Asp275=)
c.1110T>C (p.Asp370=)
c.987T>C
c.501T>C (p.Asp167=)
c.1038T>C (p.Asp346=)
c.*310T>C (n.*310T>C)
c.1044T>C (p.Asp348=)
n.408T>C
n.3641T>C
c.548T>C
c.1023T>C (p.Asp341=)
c.*712T>C (n.*712T>C)
c.1231T>C (n.1231T>C)
c.1101T>C (p.Asp367=)
c.923-2435T>C (n.923-2435T>C)
c.1107T>C (p.Asp369=)
c.1149T>C (p.Asp383=)
c.690T>C (p.Asp230=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.162149295T>GCA362182704GABRG2c.1111T>G
c.1230T>G (p.Asp410Glu)
c.1193T>G
n.364T>G
c.825T>G (p.Asp275Glu)
c.1110T>G (p.Asp370Glu)
c.987T>G
c.501T>G (p.Asp167Glu)
c.1038T>G (p.Asp346Glu)
c.*310T>G (n.*310T>G)
c.1044T>G (p.Asp348Glu)
n.408T>G
n.3641T>G
c.548T>G
c.1023T>G (p.Asp341Glu)
c.*712T>G (n.*712T>G)
c.1231T>G (n.1231T>G)
c.1101T>G (p.Asp367Glu)
c.923-2435T>G (n.923-2435T>G)
c.1107T>G (p.Asp369Glu)
c.1149T>G (p.Asp383Glu)
c.690T>G (p.Asp230Glu)
5g.162149295T=CA1596380290GABRG2c.1111T=
c.1230T= (p.Asp410=)
c.1193T=
n.364T=
c.825T= (p.Asp275=)
c.1110T= (p.Asp370=)
c.987T=
c.501T= (p.Asp167=)
c.1038T= (p.Asp346=)
c.*310T= (n.*310T=)
c.1044T= (p.Asp348=)
n.408T=
n.3641T=
c.548T=
c.1023T= (p.Asp341=)
c.*712T= (n.*712T=)
c.1231T= (n.1231T=)
c.1101T= (p.Asp367=)
c.923-2435T= (n.923-2435T=)
c.1107T= (p.Asp369=)
c.1149T= (p.Asp383=)
c.690T= (p.Asp230=)
5g.162149295_162149298delinsTAAACA1596380289GABRG2c.1111_1114delinsTAAA
c.1230_1233delinsTAAA (p.Asp410=)
c.1193_1196delinsTAAA
n.364_367delinsTAAA
c.825_828delinsTAAA (p.Asp275=)
c.1110_1113delinsTAAA (p.Asp370=)
c.987_990delinsTAAA
c.501_504delinsTAAA (p.Asp167=)
c.1038_1041delinsTAAA (p.Asp346=)
c.*310_*313delinsTAAA (n.*310_*313delinsTAAA)
c.1044_1047delinsTAAA (p.Asp348=)
n.408_411delinsTAAA
n.3641_3644delinsTAAA
c.548_551delinsTAAA
c.1023_1026delinsTAAA (p.Asp341=)
c.*712_*715delinsTAAA (n.*712_*715delinsTAAA)
c.1231_1234delinsTAAA (n.1231_1234delinsTAAA)
c.1101_1104delinsTAAA (p.Asp367=)
c.923-2435_923-2432delinsTAAA (n.923-2435_923-2432delinsTAAA)
c.1107_1110delinsTAAA (p.Asp369=)
c.1149_1152delinsTAAA (p.Asp383=)
c.690_693delinsTAAA (p.Asp230=)
5g.162149296A=CA1596380291GABRG2c.1112A=
c.1231A= (p.Lys411=)
c.1194A=
n.365A=
c.826A= (p.Lys276=)
c.1111A= (p.Lys371=)
c.988A=
c.502A= (p.Lys168=)
c.1039A= (p.Lys347=)
c.*311A= (n.*311A=)
c.1045A= (p.Lys349=)
n.409A=
n.3642A=
c.549A=
c.1024A= (p.Lys342=)
c.*713A= (n.*713A=)
c.1232A= (n.1232A=)
c.1102A= (p.Lys368=)
c.923-2434A= (n.923-2434A=)
c.1108A= (p.Lys370=)
c.1150A= (p.Lys384=)
c.691A= (p.Lys231=)
5g.162149296A>CCA362182705GABRG2c.1112A>C
c.1231A>C (p.Lys411Gln)
c.1194A>C
n.365A>C
c.826A>C (p.Lys276Gln)
c.1111A>C (p.Lys371Gln)
c.988A>C
c.502A>C (p.Lys168Gln)
c.1039A>C (p.Lys347Gln)
c.*311A>C (n.*311A>C)
c.1045A>C (p.Lys349Gln)
n.409A>C
n.3642A>C
c.549A>C
c.1024A>C (p.Lys342Gln)
c.*713A>C (n.*713A>C)
c.1232A>C (n.1232A>C)
c.1102A>C (p.Lys368Gln)
c.923-2434A>C (n.923-2434A>C)
c.1108A>C (p.Lys370Gln)
c.1150A>C (p.Lys384Gln)
c.691A>C (p.Lys231Gln)
5g.162149296A>GCA362182706GABRG2c.1112A>G
c.1231A>G (p.Lys411Glu)
c.1194A>G
n.365A>G
c.826A>G (p.Lys276Glu)
c.1111A>G (p.Lys371Glu)
c.988A>G
c.502A>G (p.Lys168Glu)
c.1039A>G (p.Lys347Glu)
c.*311A>G (n.*311A>G)
c.1045A>G (p.Lys349Glu)
n.409A>G
n.3642A>G
c.549A>G
c.1024A>G (p.Lys342Glu)
c.*713A>G (n.*713A>G)
c.1232A>G (n.1232A>G)
c.1102A>G (p.Lys368Glu)
c.923-2434A>G (n.923-2434A>G)
c.1108A>G (p.Lys370Glu)
c.1150A>G (p.Lys384Glu)
c.691A>G (p.Lys231Glu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.162149296A>TCA362182707GABRG2c.1112A>T
c.1231A>T (p.Lys411Ter)
c.1194A>T
n.365A>T
c.826A>T (p.Lys276Ter)
c.1111A>T (p.Lys371Ter)
c.988A>T
c.502A>T (p.Lys168Ter)
c.1039A>T (p.Lys347Ter)
c.*311A>T (n.*311A>T)
c.1045A>T (p.Lys349Ter)
n.409A>T
n.3642A>T
c.549A>T
c.1024A>T (p.Lys342Ter)
c.*713A>T (n.*713A>T)
c.1232A>T (n.1232A>T)
c.1102A>T (p.Lys368Ter)
c.923-2434A>T (n.923-2434A>T)
c.1108A>T (p.Lys370Ter)
c.1150A>T (p.Lys384Ter)
c.691A>T (p.Lys231Ter)
5g.162149298_162149300delCA234055GABRG2c.1114_1116del
c.1233_1235del (p.Lys412del)
c.1196_1198del
n.367_369del
c.828_830del (p.Lys277del)
c.1113_1115del (p.Lys372del)
c.990_992del
c.504_506del (p.Lys169del)
c.1041_1043del (p.Lys348del)
c.*313_*315del (n.*313_*315del)
c.1047_1049del (p.Lys350del)
n.411_413del
n.3644_3646del
c.551_553del
c.1026_1028del (p.Lys343del)
c.*715_*717del (n.*715_*717del)
c.1234_1236del (n.1234_1236del)
c.1104_1106del (p.Lys369del)
c.923-2432_923-2430del (n.923-2432_923-2430del)
c.1110_1112del (p.Lys371del)
c.1152_1154del (p.Lys385del)
c.693_695del (p.Lys232del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.162149297A=CA1596380292GABRG2c.1113A=
c.1232A= (p.Lys411=)
c.1195A=
n.366A=
c.827A= (p.Lys276=)
c.1112A= (p.Lys371=)
c.989A=
c.503A= (p.Lys168=)
c.1040A= (p.Lys347=)
c.*312A= (n.*312A=)
c.1046A= (p.Lys349=)
n.410A=
n.3643A=
c.550A=
c.1025A= (p.Lys342=)
c.*714A= (n.*714A=)
c.1233A= (n.1233A=)
c.1103A= (p.Lys368=)
c.923-2433A= (n.923-2433A=)
c.1109A= (p.Lys370=)
c.1151A= (p.Lys384=)
c.692A= (p.Lys231=)
5g.162149297A>CCA314744GABRG2c.1113A>C
c.1232A>C (p.Lys411Thr)
c.1195A>C
n.366A>C
c.827A>C (p.Lys276Thr)
c.1112A>C (p.Lys371Thr)
c.989A>C
c.503A>C (p.Lys168Thr)
c.1040A>C (p.Lys347Thr)
c.*312A>C (n.*312A>C)
c.1046A>C (p.Lys349Thr)
n.410A>C
n.3643A>C
c.550A>C
c.1025A>C (p.Lys342Thr)
c.*714A>C (n.*714A>C)
c.1233A>C (n.1233A>C)
c.1103A>C (p.Lys368Thr)
c.923-2433A>C (n.923-2433A>C)
c.1109A>C (p.Lys370Thr)
c.1151A>C (p.Lys384Thr)
c.692A>C (p.Lys231Thr)
 ClinVar dbSNP gnomAD v4
5g.162149297A>GCA362182709GABRG2c.1113A>G
c.1232A>G (p.Lys411Arg)
c.1195A>G
n.366A>G
c.827A>G (p.Lys276Arg)
c.1112A>G (p.Lys371Arg)
c.989A>G
c.503A>G (p.Lys168Arg)
c.1040A>G (p.Lys347Arg)
c.*312A>G (n.*312A>G)
c.1046A>G (p.Lys349Arg)
n.410A>G
n.3643A>G
c.550A>G
c.1025A>G (p.Lys342Arg)
c.*714A>G (n.*714A>G)
c.1233A>G (n.1233A>G)
c.1103A>G (p.Lys368Arg)
c.923-2433A>G (n.923-2433A>G)
c.1109A>G (p.Lys370Arg)
c.1151A>G (p.Lys384Arg)
c.692A>G (p.Lys231Arg)
5g.162149297A>TCA362182708GABRG2c.1113A>T
c.1232A>T (p.Lys411Ile)
c.1195A>T
n.366A>T
c.827A>T (p.Lys276Ile)
c.1112A>T (p.Lys371Ile)
c.989A>T
c.503A>T (p.Lys168Ile)
c.1040A>T (p.Lys347Ile)
c.*312A>T (n.*312A>T)
c.1046A>T (p.Lys349Ile)
n.410A>T
n.3643A>T
c.550A>T
c.1025A>T (p.Lys342Ile)
c.*714A>T (n.*714A>T)
c.1233A>T (n.1233A>T)
c.1103A>T (p.Lys368Ile)
c.923-2433A>T (n.923-2433A>T)
c.1109A>T (p.Lys370Ile)
c.1151A>T (p.Lys384Ile)
c.692A>T (p.Lys231Ile)
5g.162149298A>CCA362182710GABRG2c.1114A>C
c.1233A>C (p.Lys411Asn)
c.1196A>C
n.367A>C
c.828A>C (p.Lys276Asn)
c.1113A>C (p.Lys371Asn)
c.990A>C
c.504A>C (p.Lys168Asn)
c.1041A>C (p.Lys347Asn)
c.*313A>C (n.*313A>C)
c.1047A>C (p.Lys349Asn)
n.411A>C
n.3644A>C
c.551A>C
c.1026A>C (p.Lys342Asn)
c.*715A>C (n.*715A>C)
c.1234A>C (n.1234A>C)
c.1104A>C (p.Lys368Asn)
c.923-2432A>C (n.923-2432A>C)
c.1110A>C (p.Lys370Asn)
c.1152A>C (p.Lys384Asn)
c.693A>C (p.Lys231Asn)
5g.162149298A>GCA447610351GABRG2c.1114A>G
c.1233A>G (p.Lys411=)
c.1196A>G
n.367A>G
c.828A>G (p.Lys276=)
c.1113A>G (p.Lys371=)
c.990A>G
c.504A>G (p.Lys168=)
c.1041A>G (p.Lys347=)
c.*313A>G (n.*313A>G)
c.1047A>G (p.Lys349=)
n.411A>G
n.3644A>G
c.551A>G
c.1026A>G (p.Lys342=)
c.*715A>G (n.*715A>G)
c.1234A>G (n.1234A>G)
c.1104A>G (p.Lys368=)
c.923-2432A>G (n.923-2432A>G)
c.1110A>G (p.Lys370=)
c.1152A>G (p.Lys384=)
c.693A>G (p.Lys231=)
5g.162149298A>TCA362182711GABRG2c.1114A>T
c.1233A>T (p.Lys411Asn)
c.1196A>T
n.367A>T
c.828A>T (p.Lys276Asn)
c.1113A>T (p.Lys371Asn)
c.990A>T
c.504A>T (p.Lys168Asn)
c.1041A>T (p.Lys347Asn)
c.*313A>T (n.*313A>T)
c.1047A>T (p.Lys349Asn)
n.411A>T
n.3644A>T
c.551A>T
c.1026A>T (p.Lys342Asn)
c.*715A>T (n.*715A>T)
c.1234A>T (n.1234A>T)
c.1104A>T (p.Lys368Asn)
c.923-2432A>T (n.923-2432A>T)
c.1110A>T (p.Lys370Asn)
c.1152A>T (p.Lys384Asn)
c.693A>T (p.Lys231Asn)
5g.162149299A>CCA362182712GABRG2c.1115A>C
c.1234A>C (p.Lys412Gln)
c.1197A>C
n.368A>C
c.829A>C (p.Lys277Gln)
c.1114A>C (p.Lys372Gln)
c.991A>C
c.505A>C (p.Lys169Gln)
c.1042A>C (p.Lys348Gln)
c.*314A>C (n.*314A>C)
c.1048A>C (p.Lys350Gln)
n.412A>C
n.3645A>C
c.552A>C
c.1027A>C (p.Lys343Gln)
c.*716A>C (n.*716A>C)
c.1235A>C (n.1235A>C)
c.1105A>C (p.Lys369Gln)
c.923-2431A>C (n.923-2431A>C)
c.1111A>C (p.Lys371Gln)
c.1153A>C (p.Lys385Gln)
c.694A>C (p.Lys232Gln)
5g.162149299A>GCA362182713GABRG2c.1115A>G
c.1234A>G (p.Lys412Glu)
c.1197A>G
n.368A>G
c.829A>G (p.Lys277Glu)
c.1114A>G (p.Lys372Glu)
c.991A>G
c.505A>G (p.Lys169Glu)
c.1042A>G (p.Lys348Glu)
c.*314A>G (n.*314A>G)
c.1048A>G (p.Lys350Glu)
n.412A>G
n.3645A>G
c.552A>G
c.1027A>G (p.Lys343Glu)
c.*716A>G (n.*716A>G)
c.1235A>G (n.1235A>G)
c.1105A>G (p.Lys369Glu)
c.923-2431A>G (n.923-2431A>G)
c.1111A>G (p.Lys371Glu)
c.1153A>G (p.Lys385Glu)
c.694A>G (p.Lys232Glu)
5g.162149299A>TCA362182714GABRG2c.1115A>T
c.1234A>T (p.Lys412Ter)
c.1197A>T
n.368A>T
c.829A>T (p.Lys277Ter)
c.1114A>T (p.Lys372Ter)
c.991A>T
c.505A>T (p.Lys169Ter)
c.1042A>T (p.Lys348Ter)
c.*314A>T (n.*314A>T)
c.1048A>T (p.Lys350Ter)
n.412A>T
n.3645A>T
c.552A>T
c.1027A>T (p.Lys343Ter)
c.*716A>T (n.*716A>T)
c.1235A>T (n.1235A>T)
c.1105A>T (p.Lys369Ter)
c.923-2431A>T (n.923-2431A>T)
c.1111A>T (p.Lys371Ter)
c.1153A>T (p.Lys385Ter)
c.694A>T (p.Lys232Ter)
5g.162149304_162149306delCA2580614790GABRG2c.1120_1122del
c.1239_1241del (p.Lys414del)
c.1202_1204del
n.373_375del
c.834_836del (p.Lys279del)
c.1119_1121del (p.Lys374del)
c.996_998del
c.510_512del (p.Lys171del)
c.1047_1049del (p.Lys350del)
c.*319_*321del (n.*319_*321del)
c.1053_1055del (p.Lys352del)
n.417_419del
n.3650_3652del
c.557_559del
c.1032_1034del (p.Lys345del)
c.*721_*723del (n.*721_*723del)
c.1240_1242del (n.1240_1242del)
c.1110_1112del (p.Lys371del)
c.923-2426_923-2424del (n.923-2426_923-2424del)
c.1116_1118del (p.Lys373del)
c.1158_1160del (p.Lys387del)
c.699_701del (p.Lys234del)
 ClinVar
5g.162149300A=CA1596380293GABRG2c.1116A=
c.1235A= (p.Lys412=)
c.1198A=
n.369A=
c.830A= (p.Lys277=)
c.1115A= (p.Lys372=)
c.992A=
c.506A= (p.Lys169=)
c.1043A= (p.Lys348=)
c.*315A= (n.*315A=)
c.1049A= (p.Lys350=)
n.413A=
n.3646A=
c.553A=
c.1028A= (p.Lys343=)
c.*717A= (n.*717A=)
c.1236A= (n.1236A=)
c.1106A= (p.Lys369=)
c.923-2430A= (n.923-2430A=)
c.1112A= (p.Lys371=)
c.1154A= (p.Lys385=)
c.695A= (p.Lys232=)
5g.162149300A>CCA362182717GABRG2c.1116A>C
c.1235A>C (p.Lys412Thr)
c.1198A>C
n.369A>C
c.830A>C (p.Lys277Thr)
c.1115A>C (p.Lys372Thr)
c.992A>C
c.506A>C (p.Lys169Thr)
c.1043A>C (p.Lys348Thr)
c.*315A>C (n.*315A>C)
c.1049A>C (p.Lys350Thr)
n.413A>C
n.3646A>C
c.553A>C
c.1028A>C (p.Lys343Thr)
c.*717A>C (n.*717A>C)
c.1236A>C (n.1236A>C)
c.1106A>C (p.Lys369Thr)
c.923-2430A>C (n.923-2430A>C)
c.1112A>C (p.Lys371Thr)
c.1154A>C (p.Lys385Thr)
c.695A>C (p.Lys232Thr)
5g.162149300A>GCA362182715GABRG2c.1116A>G
c.1235A>G (p.Lys412Arg)
c.1198A>G
n.369A>G
c.830A>G (p.Lys277Arg)
c.1115A>G (p.Lys372Arg)
c.992A>G
c.506A>G (p.Lys169Arg)
c.1043A>G (p.Lys348Arg)
c.*315A>G (n.*315A>G)
c.1049A>G (p.Lys350Arg)
n.413A>G
n.3646A>G
c.553A>G
c.1028A>G (p.Lys343Arg)
c.*717A>G (n.*717A>G)
c.1236A>G (n.1236A>G)
c.1106A>G (p.Lys369Arg)
c.923-2430A>G (n.923-2430A>G)
c.1112A>G (p.Lys371Arg)
c.1154A>G (p.Lys385Arg)
c.695A>G (p.Lys232Arg)
 ClinVar dbSNP
5g.162149300A>TCA362182716GABRG2c.1116A>T
c.1235A>T (p.Lys412Met)
c.1198A>T
n.369A>T
c.830A>T (p.Lys277Met)
c.1115A>T (p.Lys372Met)
c.992A>T
c.506A>T (p.Lys169Met)
c.1043A>T (p.Lys348Met)
c.*315A>T (n.*315A>T)
c.1049A>T (p.Lys350Met)
n.413A>T
n.3646A>T
c.553A>T
c.1028A>T (p.Lys343Met)
c.*717A>T (n.*717A>T)
c.1236A>T (n.1236A>T)
c.1106A>T (p.Lys369Met)
c.923-2430A>T (n.923-2430A>T)
c.1112A>T (p.Lys371Met)
c.1154A>T (p.Lys385Met)
c.695A>T (p.Lys232Met)
5g.162149301G>ACA447610352GABRG2c.1117G>A
c.1236G>A (p.Lys412=)
c.1199G>A
n.370G>A
c.831G>A (p.Lys277=)
c.1116G>A (p.Lys372=)
c.993G>A
c.507G>A (p.Lys169=)
c.1044G>A (p.Lys348=)
c.*316G>A (n.*316G>A)
c.1050G>A (p.Lys350=)
n.414G>A
n.3647G>A
c.554G>A
c.1029G>A (p.Lys343=)
c.*718G>A (n.*718G>A)
c.1237G>A (n.1237G>A)
c.1107G>A (p.Lys369=)
c.923-2429G>A (n.923-2429G>A)
c.1113G>A (p.Lys371=)
c.1155G>A (p.Lys385=)
c.696G>A (p.Lys232=)
5g.162149301G>CCA362182718GABRG2c.1117G>C
c.1236G>C (p.Lys412Asn)
c.1199G>C
n.370G>C
c.831G>C (p.Lys277Asn)
c.1116G>C (p.Lys372Asn)
c.993G>C
c.507G>C (p.Lys169Asn)
c.1044G>C (p.Lys348Asn)
c.*316G>C (n.*316G>C)
c.1050G>C (p.Lys350Asn)
n.414G>C
n.3647G>C
c.554G>C
c.1029G>C (p.Lys343Asn)
c.*718G>C (n.*718G>C)
c.1237G>C (n.1237G>C)
c.1107G>C (p.Lys369Asn)
c.923-2429G>C (n.923-2429G>C)
c.1113G>C (p.Lys371Asn)
c.1155G>C (p.Lys385Asn)
c.696G>C (p.Lys232Asn)
5g.162149301G>TCA362182719GABRG2c.1117G>T
c.1236G>T (p.Lys412Asn)
c.1199G>T
n.370G>T
c.831G>T (p.Lys277Asn)
c.1116G>T (p.Lys372Asn)
c.993G>T
c.507G>T (p.Lys169Asn)
c.1044G>T (p.Lys348Asn)
c.*316G>T (n.*316G>T)
c.1050G>T (p.Lys350Asn)
n.414G>T
n.3647G>T
c.554G>T
c.1029G>T (p.Lys343Asn)
c.*718G>T (n.*718G>T)
c.1237G>T (n.1237G>T)
c.1107G>T (p.Lys369Asn)
c.923-2429G>T (n.923-2429G>T)
c.1113G>T (p.Lys371Asn)
c.1155G>T (p.Lys385Asn)
c.696G>T (p.Lys232Asn)
5g.162149302A>CCA362182720GABRG2c.1118A>C
c.1237A>C (p.Lys413Gln)
c.1200A>C
n.371A>C
c.832A>C (p.Lys278Gln)
c.1117A>C (p.Lys373Gln)
c.994A>C
c.508A>C (p.Lys170Gln)
c.1045A>C (p.Lys349Gln)
c.*317A>C (n.*317A>C)
c.1051A>C (p.Lys351Gln)
n.415A>C
n.3648A>C
c.555A>C
c.1030A>C (p.Lys344Gln)
c.*719A>C (n.*719A>C)
c.1238A>C (n.1238A>C)
c.1108A>C (p.Lys370Gln)
c.923-2428A>C (n.923-2428A>C)
c.1114A>C (p.Lys372Gln)
c.1156A>C (p.Lys386Gln)
c.697A>C (p.Lys233Gln)
5g.162149302A>GCA362182721GABRG2c.1118A>G
c.1237A>G (p.Lys413Glu)
c.1200A>G
n.371A>G
c.832A>G (p.Lys278Glu)
c.1117A>G (p.Lys373Glu)
c.994A>G
c.508A>G (p.Lys170Glu)
c.1045A>G (p.Lys349Glu)
c.*317A>G (n.*317A>G)
c.1051A>G (p.Lys351Glu)
n.415A>G
n.3648A>G
c.555A>G
c.1030A>G (p.Lys344Glu)
c.*719A>G (n.*719A>G)
c.1238A>G (n.1238A>G)
c.1108A>G (p.Lys370Glu)
c.923-2428A>G (n.923-2428A>G)
c.1114A>G (p.Lys372Glu)
c.1156A>G (p.Lys386Glu)
c.697A>G (p.Lys233Glu)
5g.162149302A>TCA362182722GABRG2c.1118A>T
c.1237A>T (p.Lys413Ter)
c.1200A>T
n.371A>T
c.832A>T (p.Lys278Ter)
c.1117A>T (p.Lys373Ter)
c.994A>T
c.508A>T (p.Lys170Ter)
c.1045A>T (p.Lys349Ter)
c.*317A>T (n.*317A>T)
c.1051A>T (p.Lys351Ter)
n.415A>T
n.3648A>T
c.555A>T
c.1030A>T (p.Lys344Ter)
c.*719A>T (n.*719A>T)
c.1238A>T (n.1238A>T)
c.1108A>T (p.Lys370Ter)
c.923-2428A>T (n.923-2428A>T)
c.1114A>T (p.Lys372Ter)
c.1156A>T (p.Lys386Ter)
c.697A>T (p.Lys233Ter)
5g.162149303A>CCA362182723GABRG2c.1119A>C
c.1238A>C (p.Lys413Thr)
c.1201A>C
n.372A>C
c.833A>C (p.Lys278Thr)
c.1118A>C (p.Lys373Thr)
c.995A>C
c.509A>C (p.Lys170Thr)
c.1046A>C (p.Lys349Thr)
c.*318A>C (n.*318A>C)
c.1052A>C (p.Lys351Thr)
n.416A>C
n.3649A>C
c.556A>C
c.1031A>C (p.Lys344Thr)
c.*720A>C (n.*720A>C)
c.1239A>C (n.1239A>C)
c.1109A>C (p.Lys370Thr)
c.923-2427A>C (n.923-2427A>C)
c.1115A>C (p.Lys372Thr)
c.1157A>C (p.Lys386Thr)
c.698A>C (p.Lys233Thr)
5g.162149303A>GCA362182725GABRG2c.1119A>G
c.1238A>G (p.Lys413Arg)
c.1201A>G
n.372A>G
c.833A>G (p.Lys278Arg)
c.1118A>G (p.Lys373Arg)
c.995A>G
c.509A>G (p.Lys170Arg)
c.1046A>G (p.Lys349Arg)
c.*318A>G (n.*318A>G)
c.1052A>G (p.Lys351Arg)
n.416A>G
n.3649A>G
c.556A>G
c.1031A>G (p.Lys344Arg)
c.*720A>G (n.*720A>G)
c.1239A>G (n.1239A>G)
c.1109A>G (p.Lys370Arg)
c.923-2427A>G (n.923-2427A>G)
c.1115A>G (p.Lys372Arg)
c.1157A>G (p.Lys386Arg)
c.698A>G (p.Lys233Arg)
 COSMIC
5g.162149303A>TCA362182724GABRG2c.1119A>T
c.1238A>T (p.Lys413Met)
c.1201A>T
n.372A>T
c.833A>T (p.Lys278Met)
c.1118A>T (p.Lys373Met)
c.995A>T
c.509A>T (p.Lys170Met)
c.1046A>T (p.Lys349Met)
c.*318A>T (n.*318A>T)
c.1052A>T (p.Lys351Met)
n.416A>T
n.3649A>T
c.556A>T
c.1031A>T (p.Lys344Met)
c.*720A>T (n.*720A>T)
c.1239A>T (n.1239A>T)
c.1109A>T (p.Lys370Met)
c.923-2427A>T (n.923-2427A>T)
c.1115A>T (p.Lys372Met)
c.1157A>T (p.Lys386Met)
c.698A>T (p.Lys233Met)
5g.162149304G>ACA3544871GABRG2c.1120G>A
c.1239G>A (p.Lys413=)
c.1202G>A
n.373G>A
c.834G>A (p.Lys278=)
c.1119G>A (p.Lys373=)
c.996G>A
c.510G>A (p.Lys170=)
c.1047G>A (p.Lys349=)
c.*319G>A (n.*319G>A)
c.1053G>A (p.Lys351=)
n.417G>A
n.3650G>A
c.557G>A
c.1032G>A (p.Lys344=)
c.*721G>A (n.*721G>A)
c.1240G>A (n.1240G>A)
c.1110G>A (p.Lys370=)
c.923-2426G>A (n.923-2426G>A)
c.1116G>A (p.Lys372=)
c.1158G>A (p.Lys386=)
c.699G>A (p.Lys233=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.162149304G>CCA362182726GABRG2c.1120G>C
c.1239G>C (p.Lys413Asn)
c.1202G>C
n.373G>C
c.834G>C (p.Lys278Asn)
c.1119G>C (p.Lys373Asn)
c.996G>C
c.510G>C (p.Lys170Asn)
c.1047G>C (p.Lys349Asn)
c.*319G>C (n.*319G>C)
c.1053G>C (p.Lys351Asn)
n.417G>C
n.3650G>C
c.557G>C
c.1032G>C (p.Lys344Asn)
c.*721G>C (n.*721G>C)
c.1240G>C (n.1240G>C)
c.1110G>C (p.Lys370Asn)
c.923-2426G>C (n.923-2426G>C)
c.1116G>C (p.Lys372Asn)
c.1158G>C (p.Lys386Asn)
c.699G>C (p.Lys233Asn)
5g.162149304G=CA1596380294GABRG2c.1120G=
c.1239G= (p.Lys413=)
c.1202G=
n.373G=
c.834G= (p.Lys278=)
c.1119G= (p.Lys373=)
c.996G=
c.510G= (p.Lys170=)
c.1047G= (p.Lys349=)
c.*319G= (n.*319G=)
c.1053G= (p.Lys351=)
n.417G=
n.3650G=
c.557G=
c.1032G= (p.Lys344=)
c.*721G= (n.*721G=)
c.1240G= (n.1240G=)
c.1110G= (p.Lys370=)
c.923-2426G= (n.923-2426G=)
c.1116G= (p.Lys372=)
c.1158G= (p.Lys386=)
c.699G= (p.Lys233=)
5g.162149304G>TCA362182727GABRG2c.1120G>T
c.1239G>T (p.Lys413Asn)
c.1202G>T
n.373G>T
c.834G>T (p.Lys278Asn)
c.1119G>T (p.Lys373Asn)
c.996G>T
c.510G>T (p.Lys170Asn)
c.1047G>T (p.Lys349Asn)
c.*319G>T (n.*319G>T)
c.1053G>T (p.Lys351Asn)
n.417G>T
n.3650G>T
c.557G>T
c.1032G>T (p.Lys344Asn)
c.*721G>T (n.*721G>T)
c.1240G>T (n.1240G>T)
c.1110G>T (p.Lys370Asn)
c.923-2426G>T (n.923-2426G>T)
c.1116G>T (p.Lys372Asn)
c.1158G>T (p.Lys386Asn)
c.699G>T (p.Lys233Asn)
 COSMIC
5g.162149305A>CCA362182728GABRG2c.1121A>C
c.1240A>C (p.Lys414Gln)
c.1203A>C
n.374A>C
c.835A>C (p.Lys279Gln)
c.1120A>C (p.Lys374Gln)
c.997A>C
c.511A>C (p.Lys171Gln)
c.1048A>C (p.Lys350Gln)
c.*320A>C (n.*320A>C)
c.1054A>C (p.Lys352Gln)
n.418A>C
n.3651A>C
c.558A>C
c.1033A>C (p.Lys345Gln)
c.*722A>C (n.*722A>C)
c.1241A>C (n.1241A>C)
c.1111A>C (p.Lys371Gln)
c.923-2425A>C (n.923-2425A>C)
c.1117A>C (p.Lys373Gln)
c.1159A>C (p.Lys387Gln)
c.700A>C (p.Lys234Gln)
5g.162149305A>GCA362182729GABRG2c.1121A>G
c.1240A>G (p.Lys414Glu)
c.1203A>G
n.374A>G
c.835A>G (p.Lys279Glu)
c.1120A>G (p.Lys374Glu)
c.997A>G
c.511A>G (p.Lys171Glu)
c.1048A>G (p.Lys350Glu)
c.*320A>G (n.*320A>G)
c.1054A>G (p.Lys352Glu)
n.418A>G
n.3651A>G
c.558A>G
c.1033A>G (p.Lys345Glu)
c.*722A>G (n.*722A>G)
c.1241A>G (n.1241A>G)
c.1111A>G (p.Lys371Glu)
c.923-2425A>G (n.923-2425A>G)
c.1117A>G (p.Lys373Glu)
c.1159A>G (p.Lys387Glu)
c.700A>G (p.Lys234Glu)
5g.162149305A>TCA362182730GABRG2c.1121A>T
c.1240A>T (p.Lys414Ter)
c.1203A>T
n.374A>T
c.835A>T (p.Lys279Ter)
c.1120A>T (p.Lys374Ter)
c.997A>T
c.511A>T (p.Lys171Ter)
c.1048A>T (p.Lys350Ter)
c.*320A>T (n.*320A>T)
c.1054A>T (p.Lys352Ter)
n.418A>T
n.3651A>T
c.558A>T
c.1033A>T (p.Lys345Ter)
c.*722A>T (n.*722A>T)
c.1241A>T (n.1241A>T)
c.1111A>T (p.Lys371Ter)
c.923-2425A>T (n.923-2425A>T)
c.1117A>T (p.Lys373Ter)
c.1159A>T (p.Lys387Ter)
c.700A>T (p.Lys234Ter)
5g.162149306A>CCA362182733GABRG2c.1122A>C
c.1241A>C (p.Lys414Thr)
c.1204A>C
n.375A>C
c.836A>C (p.Lys279Thr)
c.1121A>C (p.Lys374Thr)
c.998A>C
c.512A>C (p.Lys171Thr)
c.1049A>C (p.Lys350Thr)
c.*321A>C (n.*321A>C)
c.1055A>C (p.Lys352Thr)
n.419A>C
n.3652A>C
c.559A>C
c.1034A>C (p.Lys345Thr)
c.*723A>C (n.*723A>C)
c.1242A>C (n.1242A>C)
c.1112A>C (p.Lys371Thr)
c.923-2424A>C (n.923-2424A>C)
c.1118A>C (p.Lys373Thr)
c.1160A>C (p.Lys387Thr)
c.701A>C (p.Lys234Thr)
5g.162149306A>GCA362182732GABRG2c.1122A>G
c.1241A>G (p.Lys414Arg)
c.1204A>G
n.375A>G
c.836A>G (p.Lys279Arg)
c.1121A>G (p.Lys374Arg)
c.998A>G
c.512A>G (p.Lys171Arg)
c.1049A>G (p.Lys350Arg)
c.*321A>G (n.*321A>G)
c.1055A>G (p.Lys352Arg)
n.419A>G
n.3652A>G
c.559A>G
c.1034A>G (p.Lys345Arg)
c.*723A>G (n.*723A>G)
c.1242A>G (n.1242A>G)
c.1112A>G (p.Lys371Arg)
c.923-2424A>G (n.923-2424A>G)
c.1118A>G (p.Lys373Arg)
c.1160A>G (p.Lys387Arg)
c.701A>G (p.Lys234Arg)
5g.162149306A>TCA362182731GABRG2c.1122A>T
c.1241A>T (p.Lys414Ile)
c.1204A>T
n.375A>T
c.836A>T (p.Lys279Ile)
c.1121A>T (p.Lys374Ile)
c.998A>T
c.512A>T (p.Lys171Ile)
c.1049A>T (p.Lys350Ile)
c.*321A>T (n.*321A>T)
c.1055A>T (p.Lys352Ile)
n.419A>T
n.3652A>T
c.559A>T
c.1034A>T (p.Lys345Ile)
c.*723A>T (n.*723A>T)
c.1242A>T (n.1242A>T)
c.1112A>T (p.Lys371Ile)
c.923-2424A>T (n.923-2424A>T)
c.1118A>T (p.Lys373Ile)
c.1160A>T (p.Lys387Ile)
c.701A>T (p.Lys234Ile)
5g.162149307A=CA1596380295GABRG2c.1123A=
c.1242A= (p.Lys414=)
c.1205A=
n.376A=
c.837A= (p.Lys279=)
c.1122A= (p.Lys374=)
c.999A=
c.513A= (p.Lys171=)
c.1050A= (p.Lys350=)
c.*322A= (n.*322A=)
c.1056A= (p.Lys352=)
n.420A=
n.3653A=
c.560A=
c.1035A= (p.Lys345=)
c.*724A= (n.*724A=)
c.1243A= (n.1243A=)
c.1113A= (p.Lys371=)
c.923-2423A= (n.923-2423A=)
c.1119A= (p.Lys373=)
c.1161A= (p.Lys387=)
c.702A= (p.Lys234=)
5g.162149307A>CCA362182734GABRG2c.1123A>C
c.1242A>C (p.Lys414Asn)
c.1205A>C
n.376A>C
c.837A>C (p.Lys279Asn)
c.1122A>C (p.Lys374Asn)
c.999A>C
c.513A>C (p.Lys171Asn)
c.1050A>C (p.Lys350Asn)
c.*322A>C (n.*322A>C)
c.1056A>C (p.Lys352Asn)
n.420A>C
n.3653A>C
c.560A>C
c.1035A>C (p.Lys345Asn)
c.*724A>C (n.*724A>C)
c.1243A>C (n.1243A>C)
c.1113A>C (p.Lys371Asn)
c.923-2423A>C (n.923-2423A>C)
c.1119A>C (p.Lys373Asn)
c.1161A>C (p.Lys387Asn)
c.702A>C (p.Lys234Asn)
5g.162149307A>GCA3544872GABRG2c.1123A>G
c.1242A>G (p.Lys414=)
c.1205A>G
n.376A>G
c.837A>G (p.Lys279=)
c.1122A>G (p.Lys374=)
c.999A>G
c.513A>G (p.Lys171=)
c.1050A>G (p.Lys350=)
c.*322A>G (n.*322A>G)
c.1056A>G (p.Lys352=)
n.420A>G
n.3653A>G
c.560A>G
c.1035A>G (p.Lys345=)
c.*724A>G (n.*724A>G)
c.1243A>G (n.1243A>G)
c.1113A>G (p.Lys371=)
c.923-2423A>G (n.923-2423A>G)
c.1119A>G (p.Lys373=)
c.1161A>G (p.Lys387=)
c.702A>G (p.Lys234=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.162149307A>TCA362182735GABRG2c.1123A>T
c.1242A>T (p.Lys414Asn)
c.1205A>T
n.376A>T
c.837A>T (p.Lys279Asn)
c.1122A>T (p.Lys374Asn)
c.999A>T
c.513A>T (p.Lys171Asn)
c.1050A>T (p.Lys350Asn)
c.*322A>T (n.*322A>T)
c.1056A>T (p.Lys352Asn)
n.420A>T
n.3653A>T
c.560A>T
c.1035A>T (p.Lys345Asn)
c.*724A>T (n.*724A>T)
c.1243A>T (n.1243A>T)
c.1113A>T (p.Lys371Asn)
c.923-2423A>T (n.923-2423A>T)
c.1119A>T (p.Lys373Asn)
c.1161A>T (p.Lys387Asn)
c.702A>T (p.Lys234Asn)
5g.162149308A>CCA362182736GABRG2c.1124A>C
c.1243A>C (p.Asn415His)
c.1206A>C
n.377A>C
c.838A>C (p.Asn280His)
c.1123A>C (p.Asn375His)
c.1000A>C
c.514A>C (p.Asn172His)
c.1051A>C (p.Asn351His)
c.*323A>C (n.*323A>C)
c.1057A>C (p.Asn353His)
n.421A>C
n.3654A>C
c.561A>C
c.1036A>C (p.Asn346His)
c.*725A>C (n.*725A>C)
c.1244A>C (n.1244A>C)
c.1114A>C (p.Asn372His)
c.923-2422A>C (n.923-2422A>C)
c.1120A>C (p.Asn374His)
c.1162A>C (p.Asn388His)
c.703A>C (p.Asn235His)
5g.162149308A>GCA362182737GABRG2c.1124A>G
c.1243A>G (p.Asn415Asp)
c.1206A>G
n.377A>G
c.838A>G (p.Asn280Asp)
c.1123A>G (p.Asn375Asp)
c.1000A>G
c.514A>G (p.Asn172Asp)
c.1051A>G (p.Asn351Asp)
c.*323A>G (n.*323A>G)
c.1057A>G (p.Asn353Asp)
n.421A>G
n.3654A>G
c.561A>G
c.1036A>G (p.Asn346Asp)
c.*725A>G (n.*725A>G)
c.1244A>G (n.1244A>G)
c.1114A>G (p.Asn372Asp)
c.923-2422A>G (n.923-2422A>G)
c.1120A>G (p.Asn374Asp)
c.1162A>G (p.Asn388Asp)
c.703A>G (p.Asn235Asp)
5g.162149308A>TCA362182738GABRG2c.1124A>T
c.1243A>T (p.Asn415Tyr)
c.1206A>T
n.377A>T
c.838A>T (p.Asn280Tyr)
c.1123A>T (p.Asn375Tyr)
c.1000A>T
c.514A>T (p.Asn172Tyr)
c.1051A>T (p.Asn351Tyr)
c.*323A>T (n.*323A>T)
c.1057A>T (p.Asn353Tyr)
n.421A>T
n.3654A>T
c.561A>T
c.1036A>T (p.Asn346Tyr)
c.*725A>T (n.*725A>T)
c.1244A>T (n.1244A>T)
c.1114A>T (p.Asn372Tyr)
c.923-2422A>T (n.923-2422A>T)
c.1120A>T (p.Asn374Tyr)
c.1162A>T (p.Asn388Tyr)
c.703A>T (p.Asn235Tyr)
5g.162149309A>CCA362182739GABRG2c.1125A>C
c.1244A>C (p.Asn415Thr)
c.1207A>C
n.378A>C
c.839A>C (p.Asn280Thr)
c.1124A>C (p.Asn375Thr)
c.1001A>C
c.515A>C (p.Asn172Thr)
c.1052A>C (p.Asn351Thr)
c.*324A>C (n.*324A>C)
c.1058A>C (p.Asn353Thr)
n.422A>C
n.3655A>C
c.562A>C
c.1037A>C (p.Asn346Thr)
c.*726A>C (n.*726A>C)
c.1245A>C (n.1245A>C)
c.1115A>C (p.Asn372Thr)
c.923-2421A>C (n.923-2421A>C)
c.1121A>C (p.Asn374Thr)
c.1163A>C (p.Asn388Thr)
c.704A>C (p.Asn235Thr)
5g.162149309A>GCA362182741GABRG2c.1125A>G
c.1244A>G (p.Asn415Ser)
c.1207A>G
n.378A>G
c.839A>G (p.Asn280Ser)
c.1124A>G (p.Asn375Ser)
c.1001A>G
c.515A>G (p.Asn172Ser)
c.1052A>G (p.Asn351Ser)
c.*324A>G (n.*324A>G)
c.1058A>G (p.Asn353Ser)
n.422A>G
n.3655A>G
c.562A>G
c.1037A>G (p.Asn346Ser)
c.*726A>G (n.*726A>G)
c.1245A>G (n.1245A>G)
c.1115A>G (p.Asn372Ser)
c.923-2421A>G (n.923-2421A>G)
c.1121A>G (p.Asn374Ser)
c.1163A>G (p.Asn388Ser)
c.704A>G (p.Asn235Ser)
5g.162149309A>TCA362182740GABRG2c.1125A>T
c.1244A>T (p.Asn415Ile)
c.1207A>T
n.378A>T
c.839A>T (p.Asn280Ile)
c.1124A>T (p.Asn375Ile)
c.1001A>T
c.515A>T (p.Asn172Ile)
c.1052A>T (p.Asn351Ile)
c.*324A>T (n.*324A>T)
c.1058A>T (p.Asn353Ile)
n.422A>T
n.3655A>T
c.562A>T
c.1037A>T (p.Asn346Ile)
c.*726A>T (n.*726A>T)
c.1245A>T (n.1245A>T)
c.1115A>T (p.Asn372Ile)
c.923-2421A>T (n.923-2421A>T)
c.1121A>T (p.Asn374Ile)
c.1163A>T (p.Asn388Ile)
c.704A>T (p.Asn235Ile)
5g.162149310C>ACA362182742GABRG2c.1126C>A
c.1245C>A (p.Asn415Lys)
c.1208C>A
n.379C>A
c.840C>A (p.Asn280Lys)
c.1125C>A (p.Asn375Lys)
c.1002C>A
c.516C>A (p.Asn172Lys)
c.1053C>A (p.Asn351Lys)
c.*325C>A (n.*325C>A)
c.1059C>A (p.Asn353Lys)
n.423C>A
n.3656C>A
c.563C>A
c.1038C>A (p.Asn346Lys)
c.*727C>A (n.*727C>A)
c.1246C>A (n.1246C>A)
c.1116C>A (p.Asn372Lys)
c.923-2420C>A (n.923-2420C>A)
c.1122C>A (p.Asn374Lys)
c.1164C>A (p.Asn388Lys)
c.705C>A (p.Asn235Lys)
 dbSNP
5g.162149310C=CA1596380296GABRG2c.1126C=
c.1245C= (p.Asn415=)
c.1208C=
n.379C=
c.840C= (p.Asn280=)
c.1125C= (p.Asn375=)
c.1002C=
c.516C= (p.Asn172=)
c.1053C= (p.Asn351=)
c.*325C= (n.*325C=)
c.1059C= (p.Asn353=)
n.423C=
n.3656C=
c.563C=
c.1038C= (p.Asn346=)
c.*727C= (n.*727C=)
c.1246C= (n.1246C=)
c.1116C= (p.Asn372=)
c.923-2420C= (n.923-2420C=)
c.1122C= (p.Asn374=)
c.1164C= (p.Asn388=)
c.705C= (p.Asn235=)
5g.162149310C>GCA362182743GABRG2c.1126C>G
c.1245C>G (p.Asn415Lys)
c.1208C>G
n.379C>G
c.840C>G (p.Asn280Lys)
c.1125C>G (p.Asn375Lys)
c.1002C>G
c.516C>G (p.Asn172Lys)
c.1053C>G (p.Asn351Lys)
c.*325C>G (n.*325C>G)
c.1059C>G (p.Asn353Lys)
n.423C>G
n.3656C>G
c.563C>G
c.1038C>G (p.Asn346Lys)
c.*727C>G (n.*727C>G)
c.1246C>G (n.1246C>G)
c.1116C>G (p.Asn372Lys)
c.923-2420C>G (n.923-2420C>G)
c.1122C>G (p.Asn374Lys)
c.1164C>G (p.Asn388Lys)
c.705C>G (p.Asn235Lys)
5g.162149310C>TCA447610353GABRG2c.1126C>T
c.1245C>T (p.Asn415=)
c.1208C>T
n.379C>T
c.840C>T (p.Asn280=)
c.1125C>T (p.Asn375=)
c.1002C>T
c.516C>T (p.Asn172=)
c.1053C>T (p.Asn351=)
c.*325C>T (n.*325C>T)
c.1059C>T (p.Asn353=)
n.423C>T
n.3656C>T
c.563C>T
c.1038C>T (p.Asn346=)
c.*727C>T (n.*727C>T)
c.1246C>T (n.1246C>T)
c.1116C>T (p.Asn372=)
c.923-2420C>T (n.923-2420C>T)
c.1122C>T (p.Asn374=)
c.1164C>T (p.Asn388=)
c.705C>T (p.Asn235=)
 gnomAD v4 COSMIC
5g.162149311C>ACA362182744GABRG2c.1127C>A
c.1246C>A (p.Pro416Thr)
c.1209C>A
n.380C>A
c.841C>A (p.Pro281Thr)
c.1126C>A (p.Pro376Thr)
c.1003C>A
c.517C>A (p.Pro173Thr)
c.1054C>A (p.Pro352Thr)
c.*326C>A (n.*326C>A)
c.1060C>A (p.Pro354Thr)
n.424C>A
n.3657C>A
c.564C>A
c.1039C>A (p.Pro347Thr)
c.*728C>A (n.*728C>A)
c.1247C>A (n.1247C>A)
c.1117C>A (p.Pro373Thr)
c.923-2419C>A (n.923-2419C>A)
c.1123C>A (p.Pro375Thr)
c.1165C>A (p.Pro389Thr)
c.706C>A (p.Pro236Thr)
 gnomAD v4
5g.162149311C>GCA362182745GABRG2c.1127C>G
c.1246C>G (p.Pro416Ala)
c.1209C>G
n.380C>G
c.841C>G (p.Pro281Ala)
c.1126C>G (p.Pro376Ala)
c.1003C>G
c.517C>G (p.Pro173Ala)
c.1054C>G (p.Pro352Ala)
c.*326C>G (n.*326C>G)
c.1060C>G (p.Pro354Ala)
n.424C>G
n.3657C>G
c.564C>G
c.1039C>G (p.Pro347Ala)
c.*728C>G (n.*728C>G)
c.1247C>G (n.1247C>G)
c.1117C>G (p.Pro373Ala)
c.923-2419C>G (n.923-2419C>G)
c.1123C>G (p.Pro375Ala)
c.1165C>G (p.Pro389Ala)
c.706C>G (p.Pro236Ala)
5g.162149311C>TCA362182746GABRG2c.1127C>T
c.1246C>T (p.Pro416Ser)
c.1209C>T
n.380C>T
c.841C>T (p.Pro281Ser)
c.1126C>T (p.Pro376Ser)
c.1003C>T
c.517C>T (p.Pro173Ser)
c.1054C>T (p.Pro352Ser)
c.*326C>T (n.*326C>T)
c.1060C>T (p.Pro354Ser)
n.424C>T
n.3657C>T
c.564C>T
c.1039C>T (p.Pro347Ser)
c.*728C>T (n.*728C>T)
c.1247C>T (n.1247C>T)
c.1117C>T (p.Pro373Ser)
c.923-2419C>T (n.923-2419C>T)
c.1123C>T (p.Pro375Ser)
c.1165C>T (p.Pro389Ser)
c.706C>T (p.Pro236Ser)
5g.162149312C>ACA362182747GABRG2c.1128C>A
c.1247C>A (p.Pro416His)
c.1210C>A
n.381C>A
c.842C>A (p.Pro281His)
c.1127C>A (p.Pro376His)
c.1004C>A
c.518C>A (p.Pro173His)
c.1055C>A (p.Pro352His)
c.*327C>A (n.*327C>A)
c.1061C>A (p.Pro354His)
n.425C>A
n.3658C>A
c.565C>A
c.1040C>A (p.Pro347His)
c.*729C>A (n.*729C>A)
c.1248C>A (n.1248C>A)
c.1118C>A (p.Pro373His)
c.923-2418C>A (n.923-2418C>A)
c.1124C>A (p.Pro375His)
c.1166C>A (p.Pro389His)
c.707C>A (p.Pro236His)
 COSMIC
5g.162149312C=CA1596380297GABRG2c.1128C=
c.1247C= (p.Pro416=)
c.1210C=
n.381C=
c.842C= (p.Pro281=)
c.1127C= (p.Pro376=)
c.1004C=
c.518C= (p.Pro173=)
c.1055C= (p.Pro352=)
c.*327C= (n.*327C=)
c.1061C= (p.Pro354=)
n.425C=
n.3658C=
c.565C=
c.1040C= (p.Pro347=)
c.*729C= (n.*729C=)
c.1248C= (n.1248C=)
c.1118C= (p.Pro373=)
c.923-2418C= (n.923-2418C=)
c.1124C= (p.Pro375=)
c.1166C= (p.Pro389=)
c.707C= (p.Pro236=)
5g.162149312C>GCA362182748GABRG2c.1128C>G
c.1247C>G (p.Pro416Arg)
c.1210C>G
n.381C>G
c.842C>G (p.Pro281Arg)
c.1127C>G (p.Pro376Arg)
c.1004C>G
c.518C>G (p.Pro173Arg)
c.1055C>G (p.Pro352Arg)
c.*327C>G (n.*327C>G)
c.1061C>G (p.Pro354Arg)
n.425C>G
n.3658C>G
c.565C>G
c.1040C>G (p.Pro347Arg)
c.*729C>G (n.*729C>G)
c.1248C>G (n.1248C>G)
c.1118C>G (p.Pro373Arg)
c.923-2418C>G (n.923-2418C>G)
c.1124C>G (p.Pro375Arg)
c.1166C>G (p.Pro389Arg)
c.707C>G (p.Pro236Arg)
5g.162149312C>TCA362182749GABRG2c.1128C>T
c.1247C>T (p.Pro416Leu)
c.1210C>T
n.381C>T
c.842C>T (p.Pro281Leu)
c.1127C>T (p.Pro376Leu)
c.1004C>T
c.518C>T (p.Pro173Leu)
c.1055C>T (p.Pro352Leu)
c.*327C>T (n.*327C>T)
c.1061C>T (p.Pro354Leu)
n.425C>T
n.3658C>T
c.565C>T
c.1040C>T (p.Pro347Leu)
c.*729C>T (n.*729C>T)
c.1248C>T (n.1248C>T)
c.1118C>T (p.Pro373Leu)
c.923-2418C>T (n.923-2418C>T)
c.1124C>T (p.Pro375Leu)
c.1166C>T (p.Pro389Leu)
c.707C>T (p.Pro236Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v4

Number of alleles fetched