Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.162153189C>ACA362183555GABRG2c.1250C>A
c.1345C>A (p.Leu449Met)
c.1308C>A
n.503C>A
c.940C>A (p.Leu314Met)
c.964C>A (p.Leu322Met)
c.*3846C>A (n.*3846C>A)
c.1126C>A
c.616C>A (p.Leu206Met)
c.1225C>A (p.Leu409Met)
c.1249C>A (p.Leu417Met)
c.1912C>A (n.1912C>A)
c.*1430C>A (n.*1430C>A)
c.*449C>A (n.*449C>A)
c.1183C>A (p.Leu395Met)
c.1159C>A (p.Leu387Met)
n.523C>A
n.6196C>A
c.687C>A
c.1162C>A (p.Leu388Met)
c.1318C>A (p.Leu440Met)
c.1369C>A (p.Leu457Met)
c.*827C>A (n.*827C>A)
c.1346C>A (n.1346C>A)
c.1240C>A (p.Leu414Met)
c.*83C>A (n.*83C>A)
c.1246C>A (p.Leu416Met)
c.1222C>A (p.Leu408Met)
c.1288C>A (p.Leu430Met)
c.805C>A (p.Leu269Met)
c.829C>A (p.Leu277Met)
5g.162153189C>GCA362183556GABRG2c.1250C>G
c.1345C>G (p.Leu449Val)
c.1308C>G
n.503C>G
c.940C>G (p.Leu314Val)
c.964C>G (p.Leu322Val)
c.*3846C>G (n.*3846C>G)
c.1126C>G
c.616C>G (p.Leu206Val)
c.1225C>G (p.Leu409Val)
c.1249C>G (p.Leu417Val)
c.1912C>G (n.1912C>G)
c.*1430C>G (n.*1430C>G)
c.*449C>G (n.*449C>G)
c.1183C>G (p.Leu395Val)
c.1159C>G (p.Leu387Val)
n.523C>G
n.6196C>G
c.687C>G
c.1162C>G (p.Leu388Val)
c.1318C>G (p.Leu440Val)
c.1369C>G (p.Leu457Val)
c.*827C>G (n.*827C>G)
c.1346C>G (n.1346C>G)
c.1240C>G (p.Leu414Val)
c.*83C>G (n.*83C>G)
c.1246C>G (p.Leu416Val)
c.1222C>G (p.Leu408Val)
c.1288C>G (p.Leu430Val)
c.805C>G (p.Leu269Val)
c.829C>G (p.Leu277Val)
 gnomAD v4
5g.162153189C>TCA447691773GABRG2c.1250C>T
c.1345C>T (p.Leu449=)
c.1308C>T
n.503C>T
c.940C>T (p.Leu314=)
c.964C>T (p.Leu322=)
c.*3846C>T (n.*3846C>T)
c.1126C>T
c.616C>T (p.Leu206=)
c.1225C>T (p.Leu409=)
c.1249C>T (p.Leu417=)
c.1912C>T (n.1912C>T)
c.*1430C>T (n.*1430C>T)
c.*449C>T (n.*449C>T)
c.1183C>T (p.Leu395=)
c.1159C>T (p.Leu387=)
n.523C>T
n.6196C>T
c.687C>T
c.1162C>T (p.Leu388=)
c.1318C>T (p.Leu440=)
c.1369C>T (p.Leu457=)
c.*827C>T (n.*827C>T)
c.1346C>T (n.1346C>T)
c.1240C>T (p.Leu414=)
c.*83C>T (n.*83C>T)
c.1246C>T (p.Leu416=)
c.1222C>T (p.Leu408=)
c.1288C>T (p.Leu430=)
c.805C>T (p.Leu269=)
c.829C>T (p.Leu277=)
 gnomAD v4
5g.162153190T>ACA362183557GABRG2c.1251T>A
c.1346T>A (p.Leu449Gln)
c.1309T>A
n.504T>A
c.941T>A (p.Leu314Gln)
c.965T>A (p.Leu322Gln)
c.*3847T>A (n.*3847T>A)
c.1127T>A
c.617T>A (p.Leu206Gln)
c.1226T>A (p.Leu409Gln)
c.1250T>A (p.Leu417Gln)
c.1913T>A (n.1913T>A)
c.*1431T>A (n.*1431T>A)
c.*450T>A (n.*450T>A)
c.1184T>A (p.Leu395Gln)
c.1160T>A (p.Leu387Gln)
n.524T>A
n.6197T>A
c.688T>A
c.1163T>A (p.Leu388Gln)
c.1319T>A (p.Leu440Gln)
c.1370T>A (p.Leu457Gln)
c.*828T>A (n.*828T>A)
c.1347T>A (n.1347T>A)
c.1241T>A (p.Leu414Gln)
c.*84T>A (n.*84T>A)
c.1247T>A (p.Leu416Gln)
c.1223T>A (p.Leu408Gln)
c.1289T>A (p.Leu430Gln)
c.806T>A (p.Leu269Gln)
c.830T>A (p.Leu277Gln)
5g.162153190T>CCA362183558GABRG2c.1251T>C
c.1346T>C (p.Leu449Pro)
c.1309T>C
n.504T>C
c.941T>C (p.Leu314Pro)
c.965T>C (p.Leu322Pro)
c.*3847T>C (n.*3847T>C)
c.1127T>C
c.617T>C (p.Leu206Pro)
c.1226T>C (p.Leu409Pro)
c.1250T>C (p.Leu417Pro)
c.1913T>C (n.1913T>C)
c.*1431T>C (n.*1431T>C)
c.*450T>C (n.*450T>C)
c.1184T>C (p.Leu395Pro)
c.1160T>C (p.Leu387Pro)
n.524T>C
n.6197T>C
c.688T>C
c.1163T>C (p.Leu388Pro)
c.1319T>C (p.Leu440Pro)
c.1370T>C (p.Leu457Pro)
c.*828T>C (n.*828T>C)
c.1347T>C (n.1347T>C)
c.1241T>C (p.Leu414Pro)
c.*84T>C (n.*84T>C)
c.1247T>C (p.Leu416Pro)
c.1223T>C (p.Leu408Pro)
c.1289T>C (p.Leu430Pro)
c.806T>C (p.Leu269Pro)
c.830T>C (p.Leu277Pro)
5g.162153190T>GCA362183559GABRG2c.1251T>G
c.1346T>G (p.Leu449Arg)
c.1309T>G
n.504T>G
c.941T>G (p.Leu314Arg)
c.965T>G (p.Leu322Arg)
c.*3847T>G (n.*3847T>G)
c.1127T>G
c.617T>G (p.Leu206Arg)
c.1226T>G (p.Leu409Arg)
c.1250T>G (p.Leu417Arg)
c.1913T>G (n.1913T>G)
c.*1431T>G (n.*1431T>G)
c.*450T>G (n.*450T>G)
c.1184T>G (p.Leu395Arg)
c.1160T>G (p.Leu387Arg)
n.524T>G
n.6197T>G
c.688T>G
c.1163T>G (p.Leu388Arg)
c.1319T>G (p.Leu440Arg)
c.1370T>G (p.Leu457Arg)
c.*828T>G (n.*828T>G)
c.1347T>G (n.1347T>G)
c.1241T>G (p.Leu414Arg)
c.*84T>G (n.*84T>G)
c.1247T>G (p.Leu416Arg)
c.1223T>G (p.Leu408Arg)
c.1289T>G (p.Leu430Arg)
c.806T>G (p.Leu269Arg)
c.830T>G (p.Leu277Arg)
5g.162153191G>ACA447691774GABRG2c.1252G>A
c.1347G>A (p.Leu449=)
c.1310G>A
n.505G>A
c.942G>A (p.Leu314=)
c.966G>A (p.Leu322=)
c.*3848G>A (n.*3848G>A)
c.1128G>A
c.618G>A (p.Leu206=)
c.1227G>A (p.Leu409=)
c.1251G>A (p.Leu417=)
c.1914G>A (n.1914G>A)
c.*1432G>A (n.*1432G>A)
c.*451G>A (n.*451G>A)
c.1185G>A (p.Leu395=)
c.1161G>A (p.Leu387=)
n.525G>A
n.6198G>A
c.689G>A
c.1164G>A (p.Leu388=)
c.1320G>A (p.Leu440=)
c.1371G>A (p.Leu457=)
c.*829G>A (n.*829G>A)
c.1348G>A (n.1348G>A)
c.1242G>A (p.Leu414=)
c.*85G>A (n.*85G>A)
c.1248G>A (p.Leu416=)
c.1224G>A (p.Leu408=)
c.1290G>A (p.Leu430=)
c.807G>A (p.Leu269=)
c.831G>A (p.Leu277=)
 gnomAD v4
5g.162153191G>CCA447691776GABRG2c.1252G>C
c.1347G>C (p.Leu449=)
c.1310G>C
n.505G>C
c.942G>C (p.Leu314=)
c.966G>C (p.Leu322=)
c.*3848G>C (n.*3848G>C)
c.1128G>C
c.618G>C (p.Leu206=)
c.1227G>C (p.Leu409=)
c.1251G>C (p.Leu417=)
c.1914G>C (n.1914G>C)
c.*1432G>C (n.*1432G>C)
c.*451G>C (n.*451G>C)
c.1185G>C (p.Leu395=)
c.1161G>C (p.Leu387=)
n.525G>C
n.6198G>C
c.689G>C
c.1164G>C (p.Leu388=)
c.1320G>C (p.Leu440=)
c.1371G>C (p.Leu457=)
c.*829G>C (n.*829G>C)
c.1348G>C (n.1348G>C)
c.1242G>C (p.Leu414=)
c.*85G>C (n.*85G>C)
c.1248G>C (p.Leu416=)
c.1224G>C (p.Leu408=)
c.1290G>C (p.Leu430=)
c.807G>C (p.Leu269=)
c.831G>C (p.Leu277=)
 gnomAD v4
5g.162153191G>TCA447691779GABRG2c.1252G>T
c.1347G>T (p.Leu449=)
c.1310G>T
n.505G>T
c.942G>T (p.Leu314=)
c.966G>T (p.Leu322=)
c.*3848G>T (n.*3848G>T)
c.1128G>T
c.618G>T (p.Leu206=)
c.1227G>T (p.Leu409=)
c.1251G>T (p.Leu417=)
c.1914G>T (n.1914G>T)
c.*1432G>T (n.*1432G>T)
c.*451G>T (n.*451G>T)
c.1185G>T (p.Leu395=)
c.1161G>T (p.Leu387=)
n.525G>T
n.6198G>T
c.689G>T
c.1164G>T (p.Leu388=)
c.1320G>T (p.Leu440=)
c.1371G>T (p.Leu457=)
c.*829G>T (n.*829G>T)
c.1348G>T (n.1348G>T)
c.1242G>T (p.Leu414=)
c.*85G>T (n.*85G>T)
c.1248G>T (p.Leu416=)
c.1224G>T (p.Leu408=)
c.1290G>T (p.Leu430=)
c.807G>T (p.Leu269=)
c.831G>T (p.Leu277=)
5g.162153192G>ACA362183560GABRG2c.1253G>A
c.1348G>A (p.Asp450Asn)
c.1311G>A
n.506G>A
c.943G>A (p.Asp315Asn)
c.967G>A (p.Asp323Asn)
c.*3849G>A (n.*3849G>A)
c.1129G>A
c.619G>A (p.Asp207Asn)
c.1228G>A (p.Asp410Asn)
c.1252G>A (p.Asp418Asn)
c.1915G>A (n.1915G>A)
c.*1433G>A (n.*1433G>A)
c.*452G>A (n.*452G>A)
c.1186G>A (p.Asp396Asn)
c.1162G>A (p.Asp388Asn)
n.526G>A
n.6199G>A
c.690G>A
c.1165G>A (p.Asp389Asn)
c.1321G>A (p.Asp441Asn)
c.1372G>A (p.Asp458Asn)
c.*830G>A (n.*830G>A)
c.1349G>A (n.1349G>A)
c.1243G>A (p.Asp415Asn)
c.*86G>A (n.*86G>A)
c.1249G>A (p.Asp417Asn)
c.1225G>A (p.Asp409Asn)
c.1291G>A (p.Asp431Asn)
c.808G>A (p.Asp270Asn)
c.832G>A (p.Asp278Asn)
 gnomAD v4
5g.162153192G>CCA362183561GABRG2c.1253G>C
c.1348G>C (p.Asp450His)
c.1311G>C
n.506G>C
c.943G>C (p.Asp315His)
c.967G>C (p.Asp323His)
c.*3849G>C (n.*3849G>C)
c.1129G>C
c.619G>C (p.Asp207His)
c.1228G>C (p.Asp410His)
c.1252G>C (p.Asp418His)
c.1915G>C (n.1915G>C)
c.*1433G>C (n.*1433G>C)
c.*452G>C (n.*452G>C)
c.1186G>C (p.Asp396His)
c.1162G>C (p.Asp388His)
n.526G>C
n.6199G>C
c.690G>C
c.1165G>C (p.Asp389His)
c.1321G>C (p.Asp441His)
c.1372G>C (p.Asp458His)
c.*830G>C (n.*830G>C)
c.1349G>C (n.1349G>C)
c.1243G>C (p.Asp415His)
c.*86G>C (n.*86G>C)
c.1249G>C (p.Asp417His)
c.1225G>C (p.Asp409His)
c.1291G>C (p.Asp431His)
c.808G>C (p.Asp270His)
c.832G>C (p.Asp278His)
5g.162153192G>TCA362183562GABRG2c.1253G>T
c.1348G>T (p.Asp450Tyr)
c.1311G>T
n.506G>T
c.943G>T (p.Asp315Tyr)
c.967G>T (p.Asp323Tyr)
c.*3849G>T (n.*3849G>T)
c.1129G>T
c.619G>T (p.Asp207Tyr)
c.1228G>T (p.Asp410Tyr)
c.1252G>T (p.Asp418Tyr)
c.1915G>T (n.1915G>T)
c.*1433G>T (n.*1433G>T)
c.*452G>T (n.*452G>T)
c.1186G>T (p.Asp396Tyr)
c.1162G>T (p.Asp388Tyr)
n.526G>T
n.6199G>T
c.690G>T
c.1165G>T (p.Asp389Tyr)
c.1321G>T (p.Asp441Tyr)
c.1372G>T (p.Asp458Tyr)
c.*830G>T (n.*830G>T)
c.1349G>T (n.1349G>T)
c.1243G>T (p.Asp415Tyr)
c.*86G>T (n.*86G>T)
c.1249G>T (p.Asp417Tyr)
c.1225G>T (p.Asp409Tyr)
c.1291G>T (p.Asp431Tyr)
c.808G>T (p.Asp270Tyr)
c.832G>T (p.Asp278Tyr)
5g.162153193A>CCA362183565GABRG2c.1254A>C
c.1349A>C (p.Asp450Ala)
c.1312A>C
n.507A>C
c.944A>C (p.Asp315Ala)
c.968A>C (p.Asp323Ala)
c.*3850A>C (n.*3850A>C)
c.1130A>C
c.620A>C (p.Asp207Ala)
c.1229A>C (p.Asp410Ala)
c.1253A>C (p.Asp418Ala)
c.1916A>C (n.1916A>C)
c.*1434A>C (n.*1434A>C)
c.*453A>C (n.*453A>C)
c.1187A>C (p.Asp396Ala)
c.1163A>C (p.Asp388Ala)
n.527A>C
n.6200A>C
c.691A>C
c.1166A>C (p.Asp389Ala)
c.1322A>C (p.Asp441Ala)
c.1373A>C (p.Asp458Ala)
c.*831A>C (n.*831A>C)
c.1350A>C (n.1350A>C)
c.1244A>C (p.Asp415Ala)
c.*87A>C (n.*87A>C)
c.1250A>C (p.Asp417Ala)
c.1226A>C (p.Asp409Ala)
c.1292A>C (p.Asp431Ala)
c.809A>C (p.Asp270Ala)
c.833A>C (p.Asp278Ala)
5g.162153193A>GCA362183564GABRG2c.1254A>G
c.1349A>G (p.Asp450Gly)
c.1312A>G
n.507A>G
c.944A>G (p.Asp315Gly)
c.968A>G (p.Asp323Gly)
c.*3850A>G (n.*3850A>G)
c.1130A>G
c.620A>G (p.Asp207Gly)
c.1229A>G (p.Asp410Gly)
c.1253A>G (p.Asp418Gly)
c.1916A>G (n.1916A>G)
c.*1434A>G (n.*1434A>G)
c.*453A>G (n.*453A>G)
c.1187A>G (p.Asp396Gly)
c.1163A>G (p.Asp388Gly)
n.527A>G
n.6200A>G
c.691A>G
c.1166A>G (p.Asp389Gly)
c.1322A>G (p.Asp441Gly)
c.1373A>G (p.Asp458Gly)
c.*831A>G (n.*831A>G)
c.1350A>G (n.1350A>G)
c.1244A>G (p.Asp415Gly)
c.*87A>G (n.*87A>G)
c.1250A>G (p.Asp417Gly)
c.1226A>G (p.Asp409Gly)
c.1292A>G (p.Asp431Gly)
c.809A>G (p.Asp270Gly)
c.833A>G (p.Asp278Gly)
5g.162153193A>TCA362183563GABRG2c.1254A>T
c.1349A>T (p.Asp450Val)
c.1312A>T
n.507A>T
c.944A>T (p.Asp315Val)
c.968A>T (p.Asp323Val)
c.*3850A>T (n.*3850A>T)
c.1130A>T
c.620A>T (p.Asp207Val)
c.1229A>T (p.Asp410Val)
c.1253A>T (p.Asp418Val)
c.1916A>T (n.1916A>T)
c.*1434A>T (n.*1434A>T)
c.*453A>T (n.*453A>T)
c.1187A>T (p.Asp396Val)
c.1163A>T (p.Asp388Val)
n.527A>T
n.6200A>T
c.691A>T
c.1166A>T (p.Asp389Val)
c.1322A>T (p.Asp441Val)
c.1373A>T (p.Asp458Val)
c.*831A>T (n.*831A>T)
c.1350A>T (n.1350A>T)
c.1244A>T (p.Asp415Val)
c.*87A>T (n.*87A>T)
c.1250A>T (p.Asp417Val)
c.1226A>T (p.Asp409Val)
c.1292A>T (p.Asp431Val)
c.809A>T (p.Asp270Val)
c.833A>T (p.Asp278Val)
5g.162153194C>ACA362183566GABRG2c.1255C>A
c.1350C>A (p.Asp450Glu)
c.1313C>A
n.508C>A
c.945C>A (p.Asp315Glu)
c.969C>A (p.Asp323Glu)
c.*3851C>A (n.*3851C>A)
c.1131C>A
c.621C>A (p.Asp207Glu)
c.1230C>A (p.Asp410Glu)
c.1254C>A (p.Asp418Glu)
c.1917C>A (n.1917C>A)
c.*1435C>A (n.*1435C>A)
c.*454C>A (n.*454C>A)
c.1188C>A (p.Asp396Glu)
c.1164C>A (p.Asp388Glu)
n.528C>A
n.6201C>A
c.692C>A
c.1167C>A (p.Asp389Glu)
c.1323C>A (p.Asp441Glu)
c.1374C>A (p.Asp458Glu)
c.*832C>A (n.*832C>A)
c.1351C>A (n.1351C>A)
c.1245C>A (p.Asp415Glu)
c.*88C>A (n.*88C>A)
c.1251C>A (p.Asp417Glu)
c.1227C>A (p.Asp409Glu)
c.1293C>A (p.Asp431Glu)
c.810C>A (p.Asp270Glu)
c.834C>A (p.Asp278Glu)
5g.162153194C=CA1596382064GABRG2c.1255C=
c.1350C= (p.Asp450=)
c.1313C=
n.508C=
c.945C= (p.Asp315=)
c.969C= (p.Asp323=)
c.*3851C= (n.*3851C=)
c.1131C=
c.621C= (p.Asp207=)
c.1230C= (p.Asp410=)
c.1254C= (p.Asp418=)
c.1917C= (n.1917C=)
c.*1435C= (n.*1435C=)
c.*454C= (n.*454C=)
c.1188C= (p.Asp396=)
c.1164C= (p.Asp388=)
n.528C=
n.6201C=
c.692C=
c.1167C= (p.Asp389=)
c.1323C= (p.Asp441=)
c.1374C= (p.Asp458=)
c.*832C= (n.*832C=)
c.1351C= (n.1351C=)
c.1245C= (p.Asp415=)
c.*88C= (n.*88C=)
c.1251C= (p.Asp417=)
c.1227C= (p.Asp409=)
c.1293C= (p.Asp431=)
c.810C= (p.Asp270=)
c.834C= (p.Asp278=)
5g.162153194C>GCA362183567GABRG2c.1255C>G
c.1350C>G (p.Asp450Glu)
c.1313C>G
n.508C>G
c.945C>G (p.Asp315Glu)
c.969C>G (p.Asp323Glu)
c.*3851C>G (n.*3851C>G)
c.1131C>G
c.621C>G (p.Asp207Glu)
c.1230C>G (p.Asp410Glu)
c.1254C>G (p.Asp418Glu)
c.1917C>G (n.1917C>G)
c.*1435C>G (n.*1435C>G)
c.*454C>G (n.*454C>G)
c.1188C>G (p.Asp396Glu)
c.1164C>G (p.Asp388Glu)
n.528C>G
n.6201C>G
c.692C>G
c.1167C>G (p.Asp389Glu)
c.1323C>G (p.Asp441Glu)
c.1374C>G (p.Asp458Glu)
c.*832C>G (n.*832C>G)
c.1351C>G (n.1351C>G)
c.1245C>G (p.Asp415Glu)
c.*88C>G (n.*88C>G)
c.1251C>G (p.Asp417Glu)
c.1227C>G (p.Asp409Glu)
c.1293C>G (p.Asp431Glu)
c.810C>G (p.Asp270Glu)
c.834C>G (p.Asp278Glu)
5g.162153194C>TCA3544981GABRG2c.1255C>T
c.1350C>T (p.Asp450=)
c.1313C>T
n.508C>T
c.945C>T (p.Asp315=)
c.969C>T (p.Asp323=)
c.*3851C>T (n.*3851C>T)
c.1131C>T
c.621C>T (p.Asp207=)
c.1230C>T (p.Asp410=)
c.1254C>T (p.Asp418=)
c.1917C>T (n.1917C>T)
c.*1435C>T (n.*1435C>T)
c.*454C>T (n.*454C>T)
c.1188C>T (p.Asp396=)
c.1164C>T (p.Asp388=)
n.528C>T
n.6201C>T
c.692C>T
c.1167C>T (p.Asp389=)
c.1323C>T (p.Asp441=)
c.1374C>T (p.Asp458=)
c.*832C>T (n.*832C>T)
c.1351C>T (n.1351C>T)
c.1245C>T (p.Asp415=)
c.*88C>T (n.*88C>T)
c.1251C>T (p.Asp417=)
c.1227C>T (p.Asp409=)
c.1293C>T (p.Asp431=)
c.810C>T (p.Asp270=)
c.834C>T (p.Asp278=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.162153195G>ACA3544982GABRG2c.1256G>A
c.1351G>A (p.Gly451Ser)
c.1314G>A
n.509G>A
c.946G>A (p.Gly316Ser)
c.970G>A (p.Gly324Ser)
c.*3852G>A (n.*3852G>A)
c.1132G>A
c.622G>A (p.Gly208Ser)
c.1231G>A (p.Gly411Ser)
c.1255G>A (p.Gly419Ser)
c.1918G>A (n.1918G>A)
c.*1436G>A (n.*1436G>A)
c.*455G>A (n.*455G>A)
c.1189G>A (p.Gly397Ser)
c.1165G>A (p.Gly389Ser)
n.529G>A
n.6202G>A
c.693G>A
c.1168G>A (p.Gly390Ser)
c.1324G>A (p.Gly442Ser)
c.1375G>A (p.Gly459Ser)
c.*833G>A (n.*833G>A)
c.1352G>A (n.1352G>A)
c.1246G>A (p.Gly416Ser)
c.*89G>A (n.*89G>A)
c.1252G>A (p.Gly418Ser)
c.1228G>A (p.Gly410Ser)
c.1294G>A (p.Gly432Ser)
c.811G>A (p.Gly271Ser)
c.835G>A (p.Gly279Ser)
 dbSNP ExAC gnomAD v3 gnomAD v4
5g.162153195G>CCA362183569GABRG2c.1256G>C
c.1351G>C (p.Gly451Arg)
c.1314G>C
n.509G>C
c.946G>C (p.Gly316Arg)
c.970G>C (p.Gly324Arg)
c.*3852G>C (n.*3852G>C)
c.1132G>C
c.622G>C (p.Gly208Arg)
c.1231G>C (p.Gly411Arg)
c.1255G>C (p.Gly419Arg)
c.1918G>C (n.1918G>C)
c.*1436G>C (n.*1436G>C)
c.*455G>C (n.*455G>C)
c.1189G>C (p.Gly397Arg)
c.1165G>C (p.Gly389Arg)
n.529G>C
n.6202G>C
c.693G>C
c.1168G>C (p.Gly390Arg)
c.1324G>C (p.Gly442Arg)
c.1375G>C (p.Gly459Arg)
c.*833G>C (n.*833G>C)
c.1352G>C (n.1352G>C)
c.1246G>C (p.Gly416Arg)
c.*89G>C (n.*89G>C)
c.1252G>C (p.Gly418Arg)
c.1228G>C (p.Gly410Arg)
c.1294G>C (p.Gly432Arg)
c.811G>C (p.Gly271Arg)
c.835G>C (p.Gly279Arg)
5g.162153195G=CA1596382069GABRG2c.1256G=
c.1351G= (p.Gly451=)
c.1314G=
n.509G=
c.946G= (p.Gly316=)
c.970G= (p.Gly324=)
c.*3852G= (n.*3852G=)
c.1132G=
c.622G= (p.Gly208=)
c.1231G= (p.Gly411=)
c.1255G= (p.Gly419=)
c.1918G= (n.1918G=)
c.*1436G= (n.*1436G=)
c.*455G= (n.*455G=)
c.1189G= (p.Gly397=)
c.1165G= (p.Gly389=)
n.529G=
n.6202G=
c.693G=
c.1168G= (p.Gly390=)
c.1324G= (p.Gly442=)
c.1375G= (p.Gly459=)
c.*833G= (n.*833G=)
c.1352G= (n.1352G=)
c.1246G= (p.Gly416=)
c.*89G= (n.*89G=)
c.1252G= (p.Gly418=)
c.1228G= (p.Gly410=)
c.1294G= (p.Gly432=)
c.811G= (p.Gly271=)
c.835G= (p.Gly279=)
5g.162153195G>TCA362183568GABRG2c.1256G>T
c.1351G>T (p.Gly451Cys)
c.1314G>T
n.509G>T
c.946G>T (p.Gly316Cys)
c.970G>T (p.Gly324Cys)
c.*3852G>T (n.*3852G>T)
c.1132G>T
c.622G>T (p.Gly208Cys)
c.1231G>T (p.Gly411Cys)
c.1255G>T (p.Gly419Cys)
c.1918G>T (n.1918G>T)
c.*1436G>T (n.*1436G>T)
c.*455G>T (n.*455G>T)
c.1189G>T (p.Gly397Cys)
c.1165G>T (p.Gly389Cys)
n.529G>T
n.6202G>T
c.693G>T
c.1168G>T (p.Gly390Cys)
c.1324G>T (p.Gly442Cys)
c.1375G>T (p.Gly459Cys)
c.*833G>T (n.*833G>T)
c.1352G>T (n.1352G>T)
c.1246G>T (p.Gly416Cys)
c.*89G>T (n.*89G>T)
c.1252G>T (p.Gly418Cys)
c.1228G>T (p.Gly410Cys)
c.1294G>T (p.Gly432Cys)
c.811G>T (p.Gly271Cys)
c.835G>T (p.Gly279Cys)
 COSMIC
5g.162153196G>ACA3544983GABRG2c.1257G>A
c.1352G>A (p.Gly451Asp)
c.1315G>A
n.510G>A
c.947G>A (p.Gly316Asp)
c.971G>A (p.Gly324Asp)
c.*3853G>A (n.*3853G>A)
c.1133G>A
c.623G>A (p.Gly208Asp)
c.1232G>A (p.Gly411Asp)
c.1256G>A (p.Gly419Asp)
c.1919G>A (n.1919G>A)
c.*1437G>A (n.*1437G>A)
c.*456G>A (n.*456G>A)
c.1190G>A (p.Gly397Asp)
c.1166G>A (p.Gly389Asp)
n.530G>A
n.6203G>A
c.694G>A
c.1169G>A (p.Gly390Asp)
c.1325G>A (p.Gly442Asp)
c.1376G>A (p.Gly459Asp)
c.*834G>A (n.*834G>A)
c.1353G>A (n.1353G>A)
c.1247G>A (p.Gly416Asp)
c.*90G>A (n.*90G>A)
c.1253G>A (p.Gly418Asp)
c.1229G>A (p.Gly410Asp)
c.1295G>A (p.Gly432Asp)
c.812G>A (p.Gly271Asp)
c.836G>A (p.Gly279Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
5g.162153196G>CCA362183570GABRG2c.1257G>C
c.1352G>C (p.Gly451Ala)
c.1315G>C
n.510G>C
c.947G>C (p.Gly316Ala)
c.971G>C (p.Gly324Ala)
c.*3853G>C (n.*3853G>C)
c.1133G>C
c.623G>C (p.Gly208Ala)
c.1232G>C (p.Gly411Ala)
c.1256G>C (p.Gly419Ala)
c.1919G>C (n.1919G>C)
c.*1437G>C (n.*1437G>C)
c.*456G>C (n.*456G>C)
c.1190G>C (p.Gly397Ala)
c.1166G>C (p.Gly389Ala)
n.530G>C
n.6203G>C
c.694G>C
c.1169G>C (p.Gly390Ala)
c.1325G>C (p.Gly442Ala)
c.1376G>C (p.Gly459Ala)
c.*834G>C (n.*834G>C)
c.1353G>C (n.1353G>C)
c.1247G>C (p.Gly416Ala)
c.*90G>C (n.*90G>C)
c.1253G>C (p.Gly418Ala)
c.1229G>C (p.Gly410Ala)
c.1295G>C (p.Gly432Ala)
c.812G>C (p.Gly271Ala)
c.836G>C (p.Gly279Ala)
5g.162153196G=CA1596382072GABRG2c.1257G=
c.1352G= (p.Gly451=)
c.1315G=
n.510G=
c.947G= (p.Gly316=)
c.971G= (p.Gly324=)
c.*3853G= (n.*3853G=)
c.1133G=
c.623G= (p.Gly208=)
c.1232G= (p.Gly411=)
c.1256G= (p.Gly419=)
c.1919G= (n.1919G=)
c.*1437G= (n.*1437G=)
c.*456G= (n.*456G=)
c.1190G= (p.Gly397=)
c.1166G= (p.Gly389=)
n.530G=
n.6203G=
c.694G=
c.1169G= (p.Gly390=)
c.1325G= (p.Gly442=)
c.1376G= (p.Gly459=)
c.*834G= (n.*834G=)
c.1353G= (n.1353G=)
c.1247G= (p.Gly416=)
c.*90G= (n.*90G=)
c.1253G= (p.Gly418=)
c.1229G= (p.Gly410=)
c.1295G= (p.Gly432=)
c.812G= (p.Gly271=)
c.836G= (p.Gly279=)
5g.162153196G>TCA362183571GABRG2c.1257G>T
c.1352G>T (p.Gly451Val)
c.1315G>T
n.510G>T
c.947G>T (p.Gly316Val)
c.971G>T (p.Gly324Val)
c.*3853G>T (n.*3853G>T)
c.1133G>T
c.623G>T (p.Gly208Val)
c.1232G>T (p.Gly411Val)
c.1256G>T (p.Gly419Val)
c.1919G>T (n.1919G>T)
c.*1437G>T (n.*1437G>T)
c.*456G>T (n.*456G>T)
c.1190G>T (p.Gly397Val)
c.1166G>T (p.Gly389Val)
n.530G>T
n.6203G>T
c.694G>T
c.1169G>T (p.Gly390Val)
c.1325G>T (p.Gly442Val)
c.1376G>T (p.Gly459Val)
c.*834G>T (n.*834G>T)
c.1353G>T (n.1353G>T)
c.1247G>T (p.Gly416Val)
c.*90G>T (n.*90G>T)
c.1253G>T (p.Gly418Val)
c.1229G>T (p.Gly410Val)
c.1295G>T (p.Gly432Val)
c.812G>T (p.Gly271Val)
c.836G>T (p.Gly279Val)
5g.162153197C>ACA447691785GABRG2c.1258C>A
c.1353C>A (p.Gly451=)
c.1316C>A
n.511C>A
c.948C>A (p.Gly316=)
c.972C>A (p.Gly324=)
c.*3854C>A (n.*3854C>A)
c.1134C>A
c.624C>A (p.Gly208=)
c.1233C>A (p.Gly411=)
c.1257C>A (p.Gly419=)
c.1920C>A (n.1920C>A)
c.*1438C>A (n.*1438C>A)
c.*457C>A (n.*457C>A)
c.1191C>A (p.Gly397=)
c.1167C>A (p.Gly389=)
n.531C>A
n.6204C>A
c.695C>A
c.1170C>A (p.Gly390=)
c.1326C>A (p.Gly442=)
c.1377C>A (p.Gly459=)
c.*835C>A (n.*835C>A)
c.1354C>A (n.1354C>A)
c.1248C>A (p.Gly416=)
c.*91C>A (n.*91C>A)
c.1254C>A (p.Gly418=)
c.1230C>A (p.Gly410=)
c.1296C>A (p.Gly432=)
c.813C>A (p.Gly271=)
c.837C>A (p.Gly279=)
5g.162153197C=CA1596382075GABRG2c.1258C=
c.1353C= (p.Gly451=)
c.1316C=
n.511C=
c.948C= (p.Gly316=)
c.972C= (p.Gly324=)
c.*3854C= (n.*3854C=)
c.1134C=
c.624C= (p.Gly208=)
c.1233C= (p.Gly411=)
c.1257C= (p.Gly419=)
c.1920C= (n.1920C=)
c.*1438C= (n.*1438C=)
c.*457C= (n.*457C=)
c.1191C= (p.Gly397=)
c.1167C= (p.Gly389=)
n.531C=
n.6204C=
c.695C=
c.1170C= (p.Gly390=)
c.1326C= (p.Gly442=)
c.1377C= (p.Gly459=)
c.*835C= (n.*835C=)
c.1354C= (n.1354C=)
c.1248C= (p.Gly416=)
c.*91C= (n.*91C=)
c.1254C= (p.Gly418=)
c.1230C= (p.Gly410=)
c.1296C= (p.Gly432=)
c.813C= (p.Gly271=)
c.837C= (p.Gly279=)
5g.162153197C>GCA447691786GABRG2c.1258C>G
c.1353C>G (p.Gly451=)
c.1316C>G
n.511C>G
c.948C>G (p.Gly316=)
c.972C>G (p.Gly324=)
c.*3854C>G (n.*3854C>G)
c.1134C>G
c.624C>G (p.Gly208=)
c.1233C>G (p.Gly411=)
c.1257C>G (p.Gly419=)
c.1920C>G (n.1920C>G)
c.*1438C>G (n.*1438C>G)
c.*457C>G (n.*457C>G)
c.1191C>G (p.Gly397=)
c.1167C>G (p.Gly389=)
n.531C>G
n.6204C>G
c.695C>G
c.1170C>G (p.Gly390=)
c.1326C>G (p.Gly442=)
c.1377C>G (p.Gly459=)
c.*835C>G (n.*835C>G)
c.1354C>G (n.1354C>G)
c.1248C>G (p.Gly416=)
c.*91C>G (n.*91C>G)
c.1254C>G (p.Gly418=)
c.1230C>G (p.Gly410=)
c.1296C>G (p.Gly432=)
c.813C>G (p.Gly271=)
c.837C>G (p.Gly279=)
5g.162153197C>TCA447691787GABRG2c.1258C>T
c.1353C>T (p.Gly451=)
c.1316C>T
n.511C>T
c.948C>T (p.Gly316=)
c.972C>T (p.Gly324=)
c.*3854C>T (n.*3854C>T)
c.1134C>T
c.624C>T (p.Gly208=)
c.1233C>T (p.Gly411=)
c.1257C>T (p.Gly419=)
c.1920C>T (n.1920C>T)
c.*1438C>T (n.*1438C>T)
c.*457C>T (n.*457C>T)
c.1191C>T (p.Gly397=)
c.1167C>T (p.Gly389=)
n.531C>T
n.6204C>T
c.695C>T
c.1170C>T (p.Gly390=)
c.1326C>T (p.Gly442=)
c.1377C>T (p.Gly459=)
c.*835C>T (n.*835C>T)
c.1354C>T (n.1354C>T)
c.1248C>T (p.Gly416=)
c.*91C>T (n.*91C>T)
c.1254C>T (p.Gly418=)
c.1230C>T (p.Gly410=)
c.1296C>T (p.Gly432=)
c.813C>T (p.Gly271=)
c.837C>T (p.Gly279=)
 ClinVar dbSNP
5g.162153198A>CCA362183572GABRG2c.1259A>C
c.1354A>C (p.Lys452Gln)
c.1317A>C
n.512A>C
c.949A>C (p.Lys317Gln)
c.973A>C (p.Lys325Gln)
c.*3855A>C (n.*3855A>C)
c.1135A>C
c.625A>C (p.Lys209Gln)
c.1234A>C (p.Lys412Gln)
c.1258A>C (p.Lys420Gln)
c.1921A>C (n.1921A>C)
c.*1439A>C (n.*1439A>C)
c.*458A>C (n.*458A>C)
c.1192A>C (p.Lys398Gln)
c.1168A>C (p.Lys390Gln)
n.532A>C
n.6205A>C
c.696A>C
c.1171A>C (p.Lys391Gln)
c.1327A>C (p.Lys443Gln)
c.1378A>C (p.Lys460Gln)
c.*836A>C (n.*836A>C)
c.1355A>C (n.1355A>C)
c.1249A>C (p.Lys417Gln)
c.*92A>C (n.*92A>C)
c.1255A>C (p.Lys419Gln)
c.1231A>C (p.Lys411Gln)
c.1297A>C (p.Lys433Gln)
c.814A>C (p.Lys272Gln)
c.838A>C (p.Lys280Gln)
5g.162153198A>GCA362183573GABRG2c.1259A>G
c.1354A>G (p.Lys452Glu)
c.1317A>G
n.512A>G
c.949A>G (p.Lys317Glu)
c.973A>G (p.Lys325Glu)
c.*3855A>G (n.*3855A>G)
c.1135A>G
c.625A>G (p.Lys209Glu)
c.1234A>G (p.Lys412Glu)
c.1258A>G (p.Lys420Glu)
c.1921A>G (n.1921A>G)
c.*1439A>G (n.*1439A>G)
c.*458A>G (n.*458A>G)
c.1192A>G (p.Lys398Glu)
c.1168A>G (p.Lys390Glu)
n.532A>G
n.6205A>G
c.696A>G
c.1171A>G (p.Lys391Glu)
c.1327A>G (p.Lys443Glu)
c.1378A>G (p.Lys460Glu)
c.*836A>G (n.*836A>G)
c.1355A>G (n.1355A>G)
c.1249A>G (p.Lys417Glu)
c.*92A>G (n.*92A>G)
c.1255A>G (p.Lys419Glu)
c.1231A>G (p.Lys411Glu)
c.1297A>G (p.Lys433Glu)
c.814A>G (p.Lys272Glu)
c.838A>G (p.Lys280Glu)
 gnomAD v4
5g.162153198A>TCA362183574GABRG2c.1259A>T
c.1354A>T (p.Lys452Ter)
c.1317A>T
n.512A>T
c.949A>T (p.Lys317Ter)
c.973A>T (p.Lys325Ter)
c.*3855A>T (n.*3855A>T)
c.1135A>T
c.625A>T (p.Lys209Ter)
c.1234A>T (p.Lys412Ter)
c.1258A>T (p.Lys420Ter)
c.1921A>T (n.1921A>T)
c.*1439A>T (n.*1439A>T)
c.*458A>T (n.*458A>T)
c.1192A>T (p.Lys398Ter)
c.1168A>T (p.Lys390Ter)
n.532A>T
n.6205A>T
c.696A>T
c.1171A>T (p.Lys391Ter)
c.1327A>T (p.Lys443Ter)
c.1378A>T (p.Lys460Ter)
c.*836A>T (n.*836A>T)
c.1355A>T (n.1355A>T)
c.1249A>T (p.Lys417Ter)
c.*92A>T (n.*92A>T)
c.1255A>T (p.Lys419Ter)
c.1231A>T (p.Lys411Ter)
c.1297A>T (p.Lys433Ter)
c.814A>T (p.Lys272Ter)
c.838A>T (p.Lys280Ter)
5g.162153199A>CCA362183576GABRG2c.1260A>C
c.1355A>C (p.Lys452Thr)
c.1318A>C
n.513A>C
c.950A>C (p.Lys317Thr)
c.974A>C (p.Lys325Thr)
c.*3856A>C (n.*3856A>C)
c.1136A>C
c.626A>C (p.Lys209Thr)
c.1235A>C (p.Lys412Thr)
c.1259A>C (p.Lys420Thr)
c.1922A>C (n.1922A>C)
c.*1440A>C (n.*1440A>C)
c.*459A>C (n.*459A>C)
c.1193A>C (p.Lys398Thr)
c.1169A>C (p.Lys390Thr)
n.533A>C
n.6206A>C
c.697A>C
c.1172A>C (p.Lys391Thr)
c.1328A>C (p.Lys443Thr)
c.1379A>C (p.Lys460Thr)
c.*837A>C (n.*837A>C)
c.1356A>C (n.1356A>C)
c.1250A>C (p.Lys417Thr)
c.*93A>C (n.*93A>C)
c.1256A>C (p.Lys419Thr)
c.1232A>C (p.Lys411Thr)
c.1298A>C (p.Lys433Thr)
c.815A>C (p.Lys272Thr)
c.839A>C (p.Lys280Thr)
5g.162153199A>GCA362183577GABRG2c.1260A>G
c.1355A>G (p.Lys452Arg)
c.1318A>G
n.513A>G
c.950A>G (p.Lys317Arg)
c.974A>G (p.Lys325Arg)
c.*3856A>G (n.*3856A>G)
c.1136A>G
c.626A>G (p.Lys209Arg)
c.1235A>G (p.Lys412Arg)
c.1259A>G (p.Lys420Arg)
c.1922A>G (n.1922A>G)
c.*1440A>G (n.*1440A>G)
c.*459A>G (n.*459A>G)
c.1193A>G (p.Lys398Arg)
c.1169A>G (p.Lys390Arg)
n.533A>G
n.6206A>G
c.697A>G
c.1172A>G (p.Lys391Arg)
c.1328A>G (p.Lys443Arg)
c.1379A>G (p.Lys460Arg)
c.*837A>G (n.*837A>G)
c.1356A>G (n.1356A>G)
c.1250A>G (p.Lys417Arg)
c.*93A>G (n.*93A>G)
c.1256A>G (p.Lys419Arg)
c.1232A>G (p.Lys411Arg)
c.1298A>G (p.Lys433Arg)
c.815A>G (p.Lys272Arg)
c.839A>G (p.Lys280Arg)
5g.162153199A>TCA362183578GABRG2c.1260A>T
c.1355A>T (p.Lys452Met)
c.1318A>T
n.513A>T
c.950A>T (p.Lys317Met)
c.974A>T (p.Lys325Met)
c.*3856A>T (n.*3856A>T)
c.1136A>T
c.626A>T (p.Lys209Met)
c.1235A>T (p.Lys412Met)
c.1259A>T (p.Lys420Met)
c.1922A>T (n.1922A>T)
c.*1440A>T (n.*1440A>T)
c.*459A>T (n.*459A>T)
c.1193A>T (p.Lys398Met)
c.1169A>T (p.Lys390Met)
n.533A>T
n.6206A>T
c.697A>T
c.1172A>T (p.Lys391Met)
c.1328A>T (p.Lys443Met)
c.1379A>T (p.Lys460Met)
c.*837A>T (n.*837A>T)
c.1356A>T (n.1356A>T)
c.1250A>T (p.Lys417Met)
c.*93A>T (n.*93A>T)
c.1256A>T (p.Lys419Met)
c.1232A>T (p.Lys411Met)
c.1298A>T (p.Lys433Met)
c.815A>T (p.Lys272Met)
c.839A>T (p.Lys280Met)
5g.162153200G>ACA447691789GABRG2c.1261G>A
c.1356G>A (p.Lys452=)
c.1319G>A
n.514G>A
c.951G>A (p.Lys317=)
c.975G>A (p.Lys325=)
c.*3857G>A (n.*3857G>A)
c.1137G>A
c.627G>A (p.Lys209=)
c.1236G>A (p.Lys412=)
c.1260G>A (p.Lys420=)
c.1923G>A (n.1923G>A)
c.*1441G>A (n.*1441G>A)
c.*460G>A (n.*460G>A)
c.1194G>A (p.Lys398=)
c.1170G>A (p.Lys390=)
n.534G>A
n.6207G>A
c.698G>A
c.1173G>A (p.Lys391=)
c.1329G>A (p.Lys443=)
c.1380G>A (p.Lys460=)
c.*838G>A (n.*838G>A)
c.1357G>A (n.1357G>A)
c.1251G>A (p.Lys417=)
c.*94G>A (n.*94G>A)
c.1257G>A (p.Lys419=)
c.1233G>A (p.Lys411=)
c.1299G>A (p.Lys433=)
c.816G>A (p.Lys272=)
c.840G>A (p.Lys280=)
 dbSNP gnomAD v2 gnomAD v4
5g.162153200G>CCA362183579GABRG2c.1261G>C
c.1356G>C (p.Lys452Asn)
c.1319G>C
n.514G>C
c.951G>C (p.Lys317Asn)
c.975G>C (p.Lys325Asn)
c.*3857G>C (n.*3857G>C)
c.1137G>C
c.627G>C (p.Lys209Asn)
c.1236G>C (p.Lys412Asn)
c.1260G>C (p.Lys420Asn)
c.1923G>C (n.1923G>C)
c.*1441G>C (n.*1441G>C)
c.*460G>C (n.*460G>C)
c.1194G>C (p.Lys398Asn)
c.1170G>C (p.Lys390Asn)
n.534G>C
n.6207G>C
c.698G>C
c.1173G>C (p.Lys391Asn)
c.1329G>C (p.Lys443Asn)
c.1380G>C (p.Lys460Asn)
c.*838G>C (n.*838G>C)
c.1357G>C (n.1357G>C)
c.1251G>C (p.Lys417Asn)
c.*94G>C (n.*94G>C)
c.1257G>C (p.Lys419Asn)
c.1233G>C (p.Lys411Asn)
c.1299G>C (p.Lys433Asn)
c.816G>C (p.Lys272Asn)
c.840G>C (p.Lys280Asn)
5g.162153200G=CA1596382079GABRG2c.1261G=
c.1356G= (p.Lys452=)
c.1319G=
n.514G=
c.951G= (p.Lys317=)
c.975G= (p.Lys325=)
c.*3857G= (n.*3857G=)
c.1137G=
c.627G= (p.Lys209=)
c.1236G= (p.Lys412=)
c.1260G= (p.Lys420=)
c.1923G= (n.1923G=)
c.*1441G= (n.*1441G=)
c.*460G= (n.*460G=)
c.1194G= (p.Lys398=)
c.1170G= (p.Lys390=)
n.534G=
n.6207G=
c.698G=
c.1173G= (p.Lys391=)
c.1329G= (p.Lys443=)
c.1380G= (p.Lys460=)
c.*838G= (n.*838G=)
c.1357G= (n.1357G=)
c.1251G= (p.Lys417=)
c.*94G= (n.*94G=)
c.1257G= (p.Lys419=)
c.1233G= (p.Lys411=)
c.1299G= (p.Lys433=)
c.816G= (p.Lys272=)
c.840G= (p.Lys280=)
5g.162153200G>TCA362183580GABRG2c.1261G>T
c.1356G>T (p.Lys452Asn)
c.1319G>T
n.514G>T
c.951G>T (p.Lys317Asn)
c.975G>T (p.Lys325Asn)
c.*3857G>T (n.*3857G>T)
c.1137G>T
c.627G>T (p.Lys209Asn)
c.1236G>T (p.Lys412Asn)
c.1260G>T (p.Lys420Asn)
c.1923G>T (n.1923G>T)
c.*1441G>T (n.*1441G>T)
c.*460G>T (n.*460G>T)
c.1194G>T (p.Lys398Asn)
c.1170G>T (p.Lys390Asn)
n.534G>T
n.6207G>T
c.698G>T
c.1173G>T (p.Lys391Asn)
c.1329G>T (p.Lys443Asn)
c.1380G>T (p.Lys460Asn)
c.*838G>T (n.*838G>T)
c.1357G>T (n.1357G>T)
c.1251G>T (p.Lys417Asn)
c.*94G>T (n.*94G>T)
c.1257G>T (p.Lys419Asn)
c.1233G>T (p.Lys411Asn)
c.1299G>T (p.Lys433Asn)
c.816G>T (p.Lys272Asn)
c.840G>T (p.Lys280Asn)
5g.162153201G>ACA362183583GABRG2c.1262G>A
c.1357G>A (p.Asp453Asn)
c.1320G>A
n.515G>A
c.952G>A (p.Asp318Asn)
c.976G>A (p.Asp326Asn)
c.*3858G>A (n.*3858G>A)
c.1138G>A
c.628G>A (p.Asp210Asn)
c.1237G>A (p.Asp413Asn)
c.1261G>A (p.Asp421Asn)
c.1924G>A (n.1924G>A)
c.*1442G>A (n.*1442G>A)
c.*461G>A (n.*461G>A)
c.1195G>A (p.Asp399Asn)
c.1171G>A (p.Asp391Asn)
n.535G>A
n.6208G>A
c.699G>A
c.1174G>A (p.Asp392Asn)
c.1330G>A (p.Asp444Asn)
c.1381G>A (p.Asp461Asn)
c.*839G>A (n.*839G>A)
c.1358G>A (n.1358G>A)
c.1252G>A (p.Asp418Asn)
c.*95G>A (n.*95G>A)
c.1258G>A (p.Asp420Asn)
c.1234G>A (p.Asp412Asn)
c.1300G>A (p.Asp434Asn)
c.817G>A (p.Asp273Asn)
c.841G>A (p.Asp281Asn)
 COSMIC
5g.162153201G>CCA362183581GABRG2c.1262G>C
c.1357G>C (p.Asp453His)
c.1320G>C
n.515G>C
c.952G>C (p.Asp318His)
c.976G>C (p.Asp326His)
c.*3858G>C (n.*3858G>C)
c.1138G>C
c.628G>C (p.Asp210His)
c.1237G>C (p.Asp413His)
c.1261G>C (p.Asp421His)
c.1924G>C (n.1924G>C)
c.*1442G>C (n.*1442G>C)
c.*461G>C (n.*461G>C)
c.1195G>C (p.Asp399His)
c.1171G>C (p.Asp391His)
n.535G>C
n.6208G>C
c.699G>C
c.1174G>C (p.Asp392His)
c.1330G>C (p.Asp444His)
c.1381G>C (p.Asp461His)
c.*839G>C (n.*839G>C)
c.1358G>C (n.1358G>C)
c.1252G>C (p.Asp418His)
c.*95G>C (n.*95G>C)
c.1258G>C (p.Asp420His)
c.1234G>C (p.Asp412His)
c.1300G>C (p.Asp434His)
c.817G>C (p.Asp273His)
c.841G>C (p.Asp281His)
5g.162153201G>TCA362183582GABRG2c.1262G>T
c.1357G>T (p.Asp453Tyr)
c.1320G>T
n.515G>T
c.952G>T (p.Asp318Tyr)
c.976G>T (p.Asp326Tyr)
c.*3858G>T (n.*3858G>T)
c.1138G>T
c.628G>T (p.Asp210Tyr)
c.1237G>T (p.Asp413Tyr)
c.1261G>T (p.Asp421Tyr)
c.1924G>T (n.1924G>T)
c.*1442G>T (n.*1442G>T)
c.*461G>T (n.*461G>T)
c.1195G>T (p.Asp399Tyr)
c.1171G>T (p.Asp391Tyr)
n.535G>T
n.6208G>T
c.699G>T
c.1174G>T (p.Asp392Tyr)
c.1330G>T (p.Asp444Tyr)
c.1381G>T (p.Asp461Tyr)
c.*839G>T (n.*839G>T)
c.1358G>T (n.1358G>T)
c.1252G>T (p.Asp418Tyr)
c.*95G>T (n.*95G>T)
c.1258G>T (p.Asp420Tyr)
c.1234G>T (p.Asp412Tyr)
c.1300G>T (p.Asp434Tyr)
c.817G>T (p.Asp273Tyr)
c.841G>T (p.Asp281Tyr)
5g.162153202A>CCA362183584GABRG2c.1263A>C
c.1358A>C (p.Asp453Ala)
c.1321A>C
n.516A>C
c.953A>C (p.Asp318Ala)
c.977A>C (p.Asp326Ala)
c.*3859A>C (n.*3859A>C)
c.1139A>C
c.629A>C (p.Asp210Ala)
c.1238A>C (p.Asp413Ala)
c.1262A>C (p.Asp421Ala)
c.1925A>C (n.1925A>C)
c.*1443A>C (n.*1443A>C)
c.*462A>C (n.*462A>C)
c.1196A>C (p.Asp399Ala)
c.1172A>C (p.Asp391Ala)
n.536A>C
n.6209A>C
c.700A>C
c.1175A>C (p.Asp392Ala)
c.1331A>C (p.Asp444Ala)
c.1382A>C (p.Asp461Ala)
c.*840A>C (n.*840A>C)
c.1359A>C (n.1359A>C)
c.1253A>C (p.Asp418Ala)
c.*96A>C (n.*96A>C)
c.1259A>C (p.Asp420Ala)
c.1235A>C (p.Asp412Ala)
c.1301A>C (p.Asp434Ala)
c.818A>C (p.Asp273Ala)
c.842A>C (p.Asp281Ala)
5g.162153202A>GCA362183585GABRG2c.1263A>G
c.1358A>G (p.Asp453Gly)
c.1321A>G
n.516A>G
c.953A>G (p.Asp318Gly)
c.977A>G (p.Asp326Gly)
c.*3859A>G (n.*3859A>G)
c.1139A>G
c.629A>G (p.Asp210Gly)
c.1238A>G (p.Asp413Gly)
c.1262A>G (p.Asp421Gly)
c.1925A>G (n.1925A>G)
c.*1443A>G (n.*1443A>G)
c.*462A>G (n.*462A>G)
c.1196A>G (p.Asp399Gly)
c.1172A>G (p.Asp391Gly)
n.536A>G
n.6209A>G
c.700A>G
c.1175A>G (p.Asp392Gly)
c.1331A>G (p.Asp444Gly)
c.1382A>G (p.Asp461Gly)
c.*840A>G (n.*840A>G)
c.1359A>G (n.1359A>G)
c.1253A>G (p.Asp418Gly)
c.*96A>G (n.*96A>G)
c.1259A>G (p.Asp420Gly)
c.1235A>G (p.Asp412Gly)
c.1301A>G (p.Asp434Gly)
c.818A>G (p.Asp273Gly)
c.842A>G (p.Asp281Gly)
 COSMIC
5g.162153202A>TCA362183586GABRG2c.1263A>T
c.1358A>T (p.Asp453Val)
c.1321A>T
n.516A>T
c.953A>T (p.Asp318Val)
c.977A>T (p.Asp326Val)
c.*3859A>T (n.*3859A>T)
c.1139A>T
c.629A>T (p.Asp210Val)
c.1238A>T (p.Asp413Val)
c.1262A>T (p.Asp421Val)
c.1925A>T (n.1925A>T)
c.*1443A>T (n.*1443A>T)
c.*462A>T (n.*462A>T)
c.1196A>T (p.Asp399Val)
c.1172A>T (p.Asp391Val)
n.536A>T
n.6209A>T
c.700A>T
c.1175A>T (p.Asp392Val)
c.1331A>T (p.Asp444Val)
c.1382A>T (p.Asp461Val)
c.*840A>T (n.*840A>T)
c.1359A>T (n.1359A>T)
c.1253A>T (p.Asp418Val)
c.*96A>T (n.*96A>T)
c.1259A>T (p.Asp420Val)
c.1235A>T (p.Asp412Val)
c.1301A>T (p.Asp434Val)
c.818A>T (p.Asp273Val)
c.842A>T (p.Asp281Val)
 gnomAD v4
5g.162153203C>ACA362183587GABRG2c.1264C>A
c.1359C>A (p.Asp453Glu)
c.1322C>A
n.517C>A
c.954C>A (p.Asp318Glu)
c.978C>A (p.Asp326Glu)
c.*3860C>A (n.*3860C>A)
c.1140C>A
c.630C>A (p.Asp210Glu)
c.1239C>A (p.Asp413Glu)
c.1263C>A (p.Asp421Glu)
c.1926C>A (n.1926C>A)
c.*1444C>A (n.*1444C>A)
c.*463C>A (n.*463C>A)
c.1197C>A (p.Asp399Glu)
c.1173C>A (p.Asp391Glu)
n.537C>A
n.6210C>A
c.701C>A
c.1176C>A (p.Asp392Glu)
c.1332C>A (p.Asp444Glu)
c.1383C>A (p.Asp461Glu)
c.*841C>A (n.*841C>A)
c.1360C>A (n.1360C>A)
c.1254C>A (p.Asp418Glu)
c.*97C>A (n.*97C>A)
c.1260C>A (p.Asp420Glu)
c.1236C>A (p.Asp412Glu)
c.1302C>A (p.Asp434Glu)
c.819C>A (p.Asp273Glu)
c.843C>A (p.Asp281Glu)
 COSMIC
5g.162153203C>GCA362183588GABRG2c.1264C>G
c.1359C>G (p.Asp453Glu)
c.1322C>G
n.517C>G
c.954C>G (p.Asp318Glu)
c.978C>G (p.Asp326Glu)
c.*3860C>G (n.*3860C>G)
c.1140C>G
c.630C>G (p.Asp210Glu)
c.1239C>G (p.Asp413Glu)
c.1263C>G (p.Asp421Glu)
c.1926C>G (n.1926C>G)
c.*1444C>G (n.*1444C>G)
c.*463C>G (n.*463C>G)
c.1197C>G (p.Asp399Glu)
c.1173C>G (p.Asp391Glu)
n.537C>G
n.6210C>G
c.701C>G
c.1176C>G (p.Asp392Glu)
c.1332C>G (p.Asp444Glu)
c.1383C>G (p.Asp461Glu)
c.*841C>G (n.*841C>G)
c.1360C>G (n.1360C>G)
c.1254C>G (p.Asp418Glu)
c.*97C>G (n.*97C>G)
c.1260C>G (p.Asp420Glu)
c.1236C>G (p.Asp412Glu)
c.1302C>G (p.Asp434Glu)
c.819C>G (p.Asp273Glu)
c.843C>G (p.Asp281Glu)
5g.162153203C>TCA447691792GABRG2c.1264C>T
c.1359C>T (p.Asp453=)
c.1322C>T
n.517C>T
c.954C>T (p.Asp318=)
c.978C>T (p.Asp326=)
c.*3860C>T (n.*3860C>T)
c.1140C>T
c.630C>T (p.Asp210=)
c.1239C>T (p.Asp413=)
c.1263C>T (p.Asp421=)
c.1926C>T (n.1926C>T)
c.*1444C>T (n.*1444C>T)
c.*463C>T (n.*463C>T)
c.1197C>T (p.Asp399=)
c.1173C>T (p.Asp391=)
n.537C>T
n.6210C>T
c.701C>T
c.1176C>T (p.Asp392=)
c.1332C>T (p.Asp444=)
c.1383C>T (p.Asp461=)
c.*841C>T (n.*841C>T)
c.1360C>T (n.1360C>T)
c.1254C>T (p.Asp418=)
c.*97C>T (n.*97C>T)
c.1260C>T (p.Asp420=)
c.1236C>T (p.Asp412=)
c.1302C>T (p.Asp434=)
c.819C>T (p.Asp273=)
c.843C>T (p.Asp281=)
5g.162153204T>ACA362183589GABRG2c.1265T>A
c.1360T>A (p.Cys454Ser)
c.1323T>A
n.518T>A
c.955T>A (p.Cys319Ser)
c.979T>A (p.Cys327Ser)
c.*3861T>A (n.*3861T>A)
c.1141T>A
c.631T>A (p.Cys211Ser)
c.1240T>A (p.Cys414Ser)
c.1264T>A (p.Cys422Ser)
c.1927T>A (n.1927T>A)
c.*1445T>A (n.*1445T>A)
c.*464T>A (n.*464T>A)
c.1198T>A (p.Cys400Ser)
c.1174T>A (p.Cys392Ser)
n.538T>A
n.6211T>A
c.702T>A
c.1177T>A (p.Cys393Ser)
c.1333T>A (p.Cys445Ser)
c.1384T>A (p.Cys462Ser)
c.*842T>A (n.*842T>A)
c.1361T>A (n.1361T>A)
c.1255T>A (p.Cys419Ser)
c.*98T>A (n.*98T>A)
c.1261T>A (p.Cys421Ser)
c.1237T>A (p.Cys413Ser)
c.1303T>A (p.Cys435Ser)
c.820T>A (p.Cys274Ser)
c.844T>A (p.Cys282Ser)
 COSMIC
5g.162153204T>CCA362183590GABRG2c.1265T>C
c.1360T>C (p.Cys454Arg)
c.1323T>C
n.518T>C
c.955T>C (p.Cys319Arg)
c.979T>C (p.Cys327Arg)
c.*3861T>C (n.*3861T>C)
c.1141T>C
c.631T>C (p.Cys211Arg)
c.1240T>C (p.Cys414Arg)
c.1264T>C (p.Cys422Arg)
c.1927T>C (n.1927T>C)
c.*1445T>C (n.*1445T>C)
c.*464T>C (n.*464T>C)
c.1198T>C (p.Cys400Arg)
c.1174T>C (p.Cys392Arg)
n.538T>C
n.6211T>C
c.702T>C
c.1177T>C (p.Cys393Arg)
c.1333T>C (p.Cys445Arg)
c.1384T>C (p.Cys462Arg)
c.*842T>C (n.*842T>C)
c.1361T>C (n.1361T>C)
c.1255T>C (p.Cys419Arg)
c.*98T>C (n.*98T>C)
c.1261T>C (p.Cys421Arg)
c.1237T>C (p.Cys413Arg)
c.1303T>C (p.Cys435Arg)
c.820T>C (p.Cys274Arg)
c.844T>C (p.Cys282Arg)
5g.162153204T>GCA362183591GABRG2c.1265T>G
c.1360T>G (p.Cys454Gly)
c.1323T>G
n.518T>G
c.955T>G (p.Cys319Gly)
c.979T>G (p.Cys327Gly)
c.*3861T>G (n.*3861T>G)
c.1141T>G
c.631T>G (p.Cys211Gly)
c.1240T>G (p.Cys414Gly)
c.1264T>G (p.Cys422Gly)
c.1927T>G (n.1927T>G)
c.*1445T>G (n.*1445T>G)
c.*464T>G (n.*464T>G)
c.1198T>G (p.Cys400Gly)
c.1174T>G (p.Cys392Gly)
n.538T>G
n.6211T>G
c.702T>G
c.1177T>G (p.Cys393Gly)
c.1333T>G (p.Cys445Gly)
c.1384T>G (p.Cys462Gly)
c.*842T>G (n.*842T>G)
c.1361T>G (n.1361T>G)
c.1255T>G (p.Cys419Gly)
c.*98T>G (n.*98T>G)
c.1261T>G (p.Cys421Gly)
c.1237T>G (p.Cys413Gly)
c.1303T>G (p.Cys435Gly)
c.820T>G (p.Cys274Gly)
c.844T>G (p.Cys282Gly)
5g.162153205G>ACA362183592GABRG2c.1266G>A
c.1361G>A (p.Cys454Tyr)
c.1324G>A
n.519G>A
c.956G>A (p.Cys319Tyr)
c.980G>A (p.Cys327Tyr)
c.*3862G>A (n.*3862G>A)
c.1142G>A
c.632G>A (p.Cys211Tyr)
c.1241G>A (p.Cys414Tyr)
c.1265G>A (p.Cys422Tyr)
c.1928G>A (n.1928G>A)
c.*1446G>A (n.*1446G>A)
c.*465G>A (n.*465G>A)
c.1199G>A (p.Cys400Tyr)
c.1175G>A (p.Cys392Tyr)
n.539G>A
n.6212G>A
c.703G>A
c.1178G>A (p.Cys393Tyr)
c.1334G>A (p.Cys445Tyr)
c.1385G>A (p.Cys462Tyr)
c.*843G>A (n.*843G>A)
c.1362G>A (n.1362G>A)
c.1256G>A (p.Cys419Tyr)
c.*99G>A (n.*99G>A)
c.1262G>A (p.Cys421Tyr)
c.1238G>A (p.Cys413Tyr)
c.1304G>A (p.Cys435Tyr)
c.821G>A (p.Cys274Tyr)
c.845G>A (p.Cys282Tyr)
5g.162153205G>CCA362183593GABRG2c.1266G>C
c.1361G>C (p.Cys454Ser)
c.1324G>C
n.519G>C
c.956G>C (p.Cys319Ser)
c.980G>C (p.Cys327Ser)
c.*3862G>C (n.*3862G>C)
c.1142G>C
c.632G>C (p.Cys211Ser)
c.1241G>C (p.Cys414Ser)
c.1265G>C (p.Cys422Ser)
c.1928G>C (n.1928G>C)
c.*1446G>C (n.*1446G>C)
c.*465G>C (n.*465G>C)
c.1199G>C (p.Cys400Ser)
c.1175G>C (p.Cys392Ser)
n.539G>C
n.6212G>C
c.703G>C
c.1178G>C (p.Cys393Ser)
c.1334G>C (p.Cys445Ser)
c.1385G>C (p.Cys462Ser)
c.*843G>C (n.*843G>C)
c.1362G>C (n.1362G>C)
c.1256G>C (p.Cys419Ser)
c.*99G>C (n.*99G>C)
c.1262G>C (p.Cys421Ser)
c.1238G>C (p.Cys413Ser)
c.1304G>C (p.Cys435Ser)
c.821G>C (p.Cys274Ser)
c.845G>C (p.Cys282Ser)
5g.162153205G>TCA362183594GABRG2c.1266G>T
c.1361G>T (p.Cys454Phe)
c.1324G>T
n.519G>T
c.956G>T (p.Cys319Phe)
c.980G>T (p.Cys327Phe)
c.*3862G>T (n.*3862G>T)
c.1142G>T
c.632G>T (p.Cys211Phe)
c.1241G>T (p.Cys414Phe)
c.1265G>T (p.Cys422Phe)
c.1928G>T (n.1928G>T)
c.*1446G>T (n.*1446G>T)
c.*465G>T (n.*465G>T)
c.1199G>T (p.Cys400Phe)
c.1175G>T (p.Cys392Phe)
n.539G>T
n.6212G>T
c.703G>T
c.1178G>T (p.Cys393Phe)
c.1334G>T (p.Cys445Phe)
c.1385G>T (p.Cys462Phe)
c.*843G>T (n.*843G>T)
c.1362G>T (n.1362G>T)
c.1256G>T (p.Cys419Phe)
c.*99G>T (n.*99G>T)
c.1262G>T (p.Cys421Phe)
c.1238G>T (p.Cys413Phe)
c.1304G>T (p.Cys435Phe)
c.821G>T (p.Cys274Phe)
c.845G>T (p.Cys282Phe)
5g.162153206T>ACA362183596GABRG2c.1267T>A
c.1362T>A (p.Cys454Ter)
c.1325T>A
n.520T>A
c.957T>A (p.Cys319Ter)
c.981T>A (p.Cys327Ter)
c.*3863T>A (n.*3863T>A)
c.1143T>A
c.633T>A (p.Cys211Ter)
c.1242T>A (p.Cys414Ter)
c.1266T>A (p.Cys422Ter)
c.1929T>A (n.1929T>A)
c.*1447T>A (n.*1447T>A)
c.*466T>A (n.*466T>A)
c.1200T>A (p.Cys400Ter)
c.1176T>A (p.Cys392Ter)
n.540T>A
n.6213T>A
c.704T>A
c.1179T>A (p.Cys393Ter)
c.1335T>A (p.Cys445Ter)
c.1386T>A (p.Cys462Ter)
c.*844T>A (n.*844T>A)
c.1363T>A (n.1363T>A)
c.1257T>A (p.Cys419Ter)
c.*100T>A (n.*100T>A)
c.1263T>A (p.Cys421Ter)
c.1239T>A (p.Cys413Ter)
c.1305T>A (p.Cys435Ter)
c.822T>A (p.Cys274Ter)
c.846T>A (p.Cys282Ter)
5g.162153206T>CCA447691794GABRG2c.1267T>C
c.1362T>C (p.Cys454=)
c.1325T>C
n.520T>C
c.957T>C (p.Cys319=)
c.981T>C (p.Cys327=)
c.*3863T>C (n.*3863T>C)
c.1143T>C
c.633T>C (p.Cys211=)
c.1242T>C (p.Cys414=)
c.1266T>C (p.Cys422=)
c.1929T>C (n.1929T>C)
c.*1447T>C (n.*1447T>C)
c.*466T>C (n.*466T>C)
c.1200T>C (p.Cys400=)
c.1176T>C (p.Cys392=)
n.540T>C
n.6213T>C
c.704T>C
c.1179T>C (p.Cys393=)
c.1335T>C (p.Cys445=)
c.1386T>C (p.Cys462=)
c.*844T>C (n.*844T>C)
c.1363T>C (n.1363T>C)
c.1257T>C (p.Cys419=)
c.*100T>C (n.*100T>C)
c.1263T>C (p.Cys421=)
c.1239T>C (p.Cys413=)
c.1305T>C (p.Cys435=)
c.822T>C (p.Cys274=)
c.846T>C (p.Cys282=)
 dbSNP gnomAD v4
5g.162153206T>GCA362183595GABRG2c.1267T>G
c.1362T>G (p.Cys454Trp)
c.1325T>G
n.520T>G
c.957T>G (p.Cys319Trp)
c.981T>G (p.Cys327Trp)
c.*3863T>G (n.*3863T>G)
c.1143T>G
c.633T>G (p.Cys211Trp)
c.1242T>G (p.Cys414Trp)
c.1266T>G (p.Cys422Trp)
c.1929T>G (n.1929T>G)
c.*1447T>G (n.*1447T>G)
c.*466T>G (n.*466T>G)
c.1200T>G (p.Cys400Trp)
c.1176T>G (p.Cys392Trp)
n.540T>G
n.6213T>G
c.704T>G
c.1179T>G (p.Cys393Trp)
c.1335T>G (p.Cys445Trp)
c.1386T>G (p.Cys462Trp)
c.*844T>G (n.*844T>G)
c.1363T>G (n.1363T>G)
c.1257T>G (p.Cys419Trp)
c.*100T>G (n.*100T>G)
c.1263T>G (p.Cys421Trp)
c.1239T>G (p.Cys413Trp)
c.1305T>G (p.Cys435Trp)
c.822T>G (p.Cys274Trp)
c.846T>G (p.Cys282Trp)
5g.162153206T=CA1596382083GABRG2c.1267T=
c.1362T= (p.Cys454=)
c.1325T=
n.520T=
c.957T= (p.Cys319=)
c.981T= (p.Cys327=)
c.*3863T= (n.*3863T=)
c.1143T=
c.633T= (p.Cys211=)
c.1242T= (p.Cys414=)
c.1266T= (p.Cys422=)
c.1929T= (n.1929T=)
c.*1447T= (n.*1447T=)
c.*466T= (n.*466T=)
c.1200T= (p.Cys400=)
c.1176T= (p.Cys392=)
n.540T=
n.6213T=
c.704T=
c.1179T= (p.Cys393=)
c.1335T= (p.Cys445=)
c.1386T= (p.Cys462=)
c.*844T= (n.*844T=)
c.1363T= (n.1363T=)
c.1257T= (p.Cys419=)
c.*100T= (n.*100T=)
c.1263T= (p.Cys421=)
c.1239T= (p.Cys413=)
c.1305T= (p.Cys435=)
c.822T= (p.Cys274=)
c.846T= (p.Cys282=)
5g.162153207G>ACA362183597GABRG2c.1268G>A
c.1363G>A (p.Ala455Thr)
c.1326G>A
n.521G>A
c.958G>A (p.Ala320Thr)
c.982G>A (p.Ala328Thr)
c.*3864G>A (n.*3864G>A)
c.1144G>A
c.634G>A (p.Ala212Thr)
c.1243G>A (p.Ala415Thr)
c.1267G>A (p.Ala423Thr)
c.1930G>A (n.1930G>A)
c.*1448G>A (n.*1448G>A)
c.*467G>A (n.*467G>A)
c.1201G>A (p.Ala401Thr)
c.1177G>A (p.Ala393Thr)
n.541G>A
n.6214G>A
c.705G>A
c.1180G>A (p.Ala394Thr)
c.1336G>A (p.Ala446Thr)
c.1387G>A (p.Ala463Thr)
c.*845G>A (n.*845G>A)
c.1364G>A (n.1364G>A)
c.1258G>A (p.Ala420Thr)
c.*101G>A (n.*101G>A)
c.1264G>A (p.Ala422Thr)
c.1240G>A (p.Ala414Thr)
c.1306G>A (p.Ala436Thr)
c.823G>A (p.Ala275Thr)
c.847G>A (p.Ala283Thr)
5g.162153207G>CCA362183598GABRG2c.1268G>C
c.1363G>C (p.Ala455Pro)
c.1326G>C
n.521G>C
c.958G>C (p.Ala320Pro)
c.982G>C (p.Ala328Pro)
c.*3864G>C (n.*3864G>C)
c.1144G>C
c.634G>C (p.Ala212Pro)
c.1243G>C (p.Ala415Pro)
c.1267G>C (p.Ala423Pro)
c.1930G>C (n.1930G>C)
c.*1448G>C (n.*1448G>C)
c.*467G>C (n.*467G>C)
c.1201G>C (p.Ala401Pro)
c.1177G>C (p.Ala393Pro)
n.541G>C
n.6214G>C
c.705G>C
c.1180G>C (p.Ala394Pro)
c.1336G>C (p.Ala446Pro)
c.1387G>C (p.Ala463Pro)
c.*845G>C (n.*845G>C)
c.1364G>C (n.1364G>C)
c.1258G>C (p.Ala420Pro)
c.*101G>C (n.*101G>C)
c.1264G>C (p.Ala422Pro)
c.1240G>C (p.Ala414Pro)
c.1306G>C (p.Ala436Pro)
c.823G>C (p.Ala275Pro)
c.847G>C (p.Ala283Pro)
5g.162153207G>TCA362183599GABRG2c.1268G>T
c.1363G>T (p.Ala455Ser)
c.1326G>T
n.521G>T
c.958G>T (p.Ala320Ser)
c.982G>T (p.Ala328Ser)
c.*3864G>T (n.*3864G>T)
c.1144G>T
c.634G>T (p.Ala212Ser)
c.1243G>T (p.Ala415Ser)
c.1267G>T (p.Ala423Ser)
c.1930G>T (n.1930G>T)
c.*1448G>T (n.*1448G>T)
c.*467G>T (n.*467G>T)
c.1201G>T (p.Ala401Ser)
c.1177G>T (p.Ala393Ser)
n.541G>T
n.6214G>T
c.705G>T
c.1180G>T (p.Ala394Ser)
c.1336G>T (p.Ala446Ser)
c.1387G>T (p.Ala463Ser)
c.*845G>T (n.*845G>T)
c.1364G>T (n.1364G>T)
c.1258G>T (p.Ala420Ser)
c.*101G>T (n.*101G>T)
c.1264G>T (p.Ala422Ser)
c.1240G>T (p.Ala414Ser)
c.1306G>T (p.Ala436Ser)
c.823G>T (p.Ala275Ser)
c.847G>T (p.Ala283Ser)
5g.162153208C>ACA362183600GABRG2c.1269C>A
c.1364C>A (p.Ala455Asp)
c.1327C>A
n.522C>A
c.959C>A (p.Ala320Asp)
c.983C>A (p.Ala328Asp)
c.*3865C>A (n.*3865C>A)
c.1145C>A
c.635C>A (p.Ala212Asp)
c.1244C>A (p.Ala415Asp)
c.1268C>A (p.Ala423Asp)
c.1931C>A (n.1931C>A)
c.*1449C>A (n.*1449C>A)
c.*468C>A (n.*468C>A)
c.1202C>A (p.Ala401Asp)
c.1178C>A (p.Ala393Asp)
n.542C>A
n.6215C>A
c.706C>A
c.1181C>A (p.Ala394Asp)
c.1337C>A (p.Ala446Asp)
c.1388C>A (p.Ala463Asp)
c.*846C>A (n.*846C>A)
c.1365C>A (n.1365C>A)
c.1259C>A (p.Ala420Asp)
c.*102C>A (n.*102C>A)
c.1265C>A (p.Ala422Asp)
c.1241C>A (p.Ala414Asp)
c.1307C>A (p.Ala436Asp)
c.824C>A (p.Ala275Asp)
c.848C>A (p.Ala283Asp)
5g.162153208C>GCA362183601GABRG2c.1269C>G
c.1364C>G (p.Ala455Gly)
c.1327C>G
n.522C>G
c.959C>G (p.Ala320Gly)
c.983C>G (p.Ala328Gly)
c.*3865C>G (n.*3865C>G)
c.1145C>G
c.635C>G (p.Ala212Gly)
c.1244C>G (p.Ala415Gly)
c.1268C>G (p.Ala423Gly)
c.1931C>G (n.1931C>G)
c.*1449C>G (n.*1449C>G)
c.*468C>G (n.*468C>G)
c.1202C>G (p.Ala401Gly)
c.1178C>G (p.Ala393Gly)
n.542C>G
n.6215C>G
c.706C>G
c.1181C>G (p.Ala394Gly)
c.1337C>G (p.Ala446Gly)
c.1388C>G (p.Ala463Gly)
c.*846C>G (n.*846C>G)
c.1365C>G (n.1365C>G)
c.1259C>G (p.Ala420Gly)
c.*102C>G (n.*102C>G)
c.1265C>G (p.Ala422Gly)
c.1241C>G (p.Ala414Gly)
c.1307C>G (p.Ala436Gly)
c.824C>G (p.Ala275Gly)
c.848C>G (p.Ala283Gly)
5g.162153208C>TCA362183602GABRG2c.1269C>T
c.1364C>T (p.Ala455Val)
c.1327C>T
n.522C>T
c.959C>T (p.Ala320Val)
c.983C>T (p.Ala328Val)
c.*3865C>T (n.*3865C>T)
c.1145C>T
c.635C>T (p.Ala212Val)
c.1244C>T (p.Ala415Val)
c.1268C>T (p.Ala423Val)
c.1931C>T (n.1931C>T)
c.*1449C>T (n.*1449C>T)
c.*468C>T (n.*468C>T)
c.1202C>T (p.Ala401Val)
c.1178C>T (p.Ala393Val)
n.542C>T
n.6215C>T
c.706C>T
c.1181C>T (p.Ala394Val)
c.1337C>T (p.Ala446Val)
c.1388C>T (p.Ala463Val)
c.*846C>T (n.*846C>T)
c.1365C>T (n.1365C>T)
c.1259C>T (p.Ala420Val)
c.*102C>T (n.*102C>T)
c.1265C>T (p.Ala422Val)
c.1241C>T (p.Ala414Val)
c.1307C>T (p.Ala436Val)
c.824C>T (p.Ala275Val)
c.848C>T (p.Ala283Val)
 ClinVar
5g.162153209C>ACA447691796GABRG2c.1270C>A
c.1365C>A (p.Ala455=)
c.1328C>A
n.523C>A
c.960C>A (p.Ala320=)
c.984C>A (p.Ala328=)
c.*3866C>A (n.*3866C>A)
c.1146C>A
c.636C>A (p.Ala212=)
c.1245C>A (p.Ala415=)
c.1269C>A (p.Ala423=)
c.1932C>A (n.1932C>A)
c.*1450C>A (n.*1450C>A)
c.*469C>A (n.*469C>A)
c.1203C>A (p.Ala401=)
c.1179C>A (p.Ala393=)
n.543C>A
n.6216C>A
c.707C>A
c.1182C>A (p.Ala394=)
c.1338C>A (p.Ala446=)
c.1389C>A (p.Ala463=)
c.*847C>A (n.*847C>A)
c.1366C>A (n.1366C>A)
c.1260C>A (p.Ala420=)
c.*103C>A (n.*103C>A)
c.1266C>A (p.Ala422=)
c.1242C>A (p.Ala414=)
c.1308C>A (p.Ala436=)
c.825C>A (p.Ala275=)
c.849C>A (p.Ala283=)
5g.162153209C=CA1596382085GABRG2c.1270C=
c.1365C= (p.Ala455=)
c.1328C=
n.523C=
c.960C= (p.Ala320=)
c.984C= (p.Ala328=)
c.*3866C= (n.*3866C=)
c.1146C=
c.636C= (p.Ala212=)
c.1245C= (p.Ala415=)
c.1269C= (p.Ala423=)
c.1932C= (n.1932C=)
c.*1450C= (n.*1450C=)
c.*469C= (n.*469C=)
c.1203C= (p.Ala401=)
c.1179C= (p.Ala393=)
n.543C=
n.6216C=
c.707C=
c.1182C= (p.Ala394=)
c.1338C= (p.Ala446=)
c.1389C= (p.Ala463=)
c.*847C= (n.*847C=)
c.1366C= (n.1366C=)
c.1260C= (p.Ala420=)
c.*103C= (n.*103C=)
c.1266C= (p.Ala422=)
c.1242C= (p.Ala414=)
c.1308C= (p.Ala436=)
c.825C= (p.Ala275=)
c.849C= (p.Ala283=)
5g.162153209C>GCA447691798GABRG2c.1270C>G
c.1365C>G (p.Ala455=)
c.1328C>G
n.523C>G
c.960C>G (p.Ala320=)
c.984C>G (p.Ala328=)
c.*3866C>G (n.*3866C>G)
c.1146C>G
c.636C>G (p.Ala212=)
c.1245C>G (p.Ala415=)
c.1269C>G (p.Ala423=)
c.1932C>G (n.1932C>G)
c.*1450C>G (n.*1450C>G)
c.*469C>G (n.*469C>G)
c.1203C>G (p.Ala401=)
c.1179C>G (p.Ala393=)
n.543C>G
n.6216C>G
c.707C>G
c.1182C>G (p.Ala394=)
c.1338C>G (p.Ala446=)
c.1389C>G (p.Ala463=)
c.*847C>G (n.*847C>G)
c.1366C>G (n.1366C>G)
c.1260C>G (p.Ala420=)
c.*103C>G (n.*103C>G)
c.1266C>G (p.Ala422=)
c.1242C>G (p.Ala414=)
c.1308C>G (p.Ala436=)
c.825C>G (p.Ala275=)
c.849C>G (p.Ala283=)
5g.162153209C>TCA447691797GABRG2c.1270C>T
c.1365C>T (p.Ala455=)
c.1328C>T
n.523C>T
c.960C>T (p.Ala320=)
c.984C>T (p.Ala328=)
c.*3866C>T (n.*3866C>T)
c.1146C>T
c.636C>T (p.Ala212=)
c.1245C>T (p.Ala415=)
c.1269C>T (p.Ala423=)
c.1932C>T (n.1932C>T)
c.*1450C>T (n.*1450C>T)
c.*469C>T (n.*469C>T)
c.1203C>T (p.Ala401=)
c.1179C>T (p.Ala393=)
n.543C>T
n.6216C>T
c.707C>T
c.1182C>T (p.Ala394=)
c.1338C>T (p.Ala446=)
c.1389C>T (p.Ala463=)
c.*847C>T (n.*847C>T)
c.1366C>T (n.1366C>T)
c.1260C>T (p.Ala420=)
c.*103C>T (n.*103C>T)
c.1266C>T (p.Ala422=)
c.1242C>T (p.Ala414=)
c.1308C>T (p.Ala436=)
c.825C>T (p.Ala275=)
c.849C>T (p.Ala283=)
 dbSNP gnomAD v3 gnomAD v4
5g.162153210A>CCA362183605GABRG2c.1271A>C
c.1366A>C (p.Ser456Arg)
c.1329A>C
n.524A>C
c.961A>C (p.Ser321Arg)
c.985A>C (p.Ser329Arg)
c.*3867A>C (n.*3867A>C)
c.1147A>C
c.637A>C (p.Ser213Arg)
c.1246A>C (p.Ser416Arg)
c.1270A>C (p.Ser424Arg)
c.1933A>C (n.1933A>C)
c.*1451A>C (n.*1451A>C)
c.*470A>C (n.*470A>C)
c.1204A>C (p.Ser402Arg)
c.1180A>C (p.Ser394Arg)
n.544A>C
n.6217A>C
c.708A>C
c.1183A>C (p.Ser395Arg)
c.1339A>C (p.Ser447Arg)
c.1390A>C (p.Ser464Arg)
c.*848A>C (n.*848A>C)
c.1367A>C (n.1367A>C)
c.1261A>C (p.Ser421Arg)
c.*104A>C (n.*104A>C)
c.1267A>C (p.Ser423Arg)
c.1243A>C (p.Ser415Arg)
c.1309A>C (p.Ser437Arg)
c.826A>C (p.Ser276Arg)
c.850A>C (p.Ser284Arg)
5g.162153210A>GCA362183603GABRG2c.1271A>G
c.1366A>G (p.Ser456Gly)
c.1329A>G
n.524A>G
c.961A>G (p.Ser321Gly)
c.985A>G (p.Ser329Gly)
c.*3867A>G (n.*3867A>G)
c.1147A>G
c.637A>G (p.Ser213Gly)
c.1246A>G (p.Ser416Gly)
c.1270A>G (p.Ser424Gly)
c.1933A>G (n.1933A>G)
c.*1451A>G (n.*1451A>G)
c.*470A>G (n.*470A>G)
c.1204A>G (p.Ser402Gly)
c.1180A>G (p.Ser394Gly)
n.544A>G
n.6217A>G
c.708A>G
c.1183A>G (p.Ser395Gly)
c.1339A>G (p.Ser447Gly)
c.1390A>G (p.Ser464Gly)
c.*848A>G (n.*848A>G)
c.1367A>G (n.1367A>G)
c.1261A>G (p.Ser421Gly)
c.*104A>G (n.*104A>G)
c.1267A>G (p.Ser423Gly)
c.1243A>G (p.Ser415Gly)
c.1309A>G (p.Ser437Gly)
c.826A>G (p.Ser276Gly)
c.850A>G (p.Ser284Gly)
5g.162153210A>TCA362183604GABRG2c.1271A>T
c.1366A>T (p.Ser456Cys)
c.1329A>T
n.524A>T
c.961A>T (p.Ser321Cys)
c.985A>T (p.Ser329Cys)
c.*3867A>T (n.*3867A>T)
c.1147A>T
c.637A>T (p.Ser213Cys)
c.1246A>T (p.Ser416Cys)
c.1270A>T (p.Ser424Cys)
c.1933A>T (n.1933A>T)
c.*1451A>T (n.*1451A>T)
c.*470A>T (n.*470A>T)
c.1204A>T (p.Ser402Cys)
c.1180A>T (p.Ser394Cys)
n.544A>T
n.6217A>T
c.708A>T
c.1183A>T (p.Ser395Cys)
c.1339A>T (p.Ser447Cys)
c.1390A>T (p.Ser464Cys)
c.*848A>T (n.*848A>T)
c.1367A>T (n.1367A>T)
c.1261A>T (p.Ser421Cys)
c.*104A>T (n.*104A>T)
c.1267A>T (p.Ser423Cys)
c.1243A>T (p.Ser415Cys)
c.1309A>T (p.Ser437Cys)
c.826A>T (p.Ser276Cys)
c.850A>T (p.Ser284Cys)
5g.162153211G>ACA3544984GABRG2c.1272G>A
c.1367G>A (p.Ser456Asn)
c.1330G>A
n.525G>A
c.962G>A (p.Ser321Asn)
c.986G>A (p.Ser329Asn)
c.*3868G>A (n.*3868G>A)
c.1148G>A
c.638G>A (p.Ser213Asn)
c.1247G>A (p.Ser416Asn)
c.1271G>A (p.Ser424Asn)
c.1934G>A (n.1934G>A)
c.*1452G>A (n.*1452G>A)
c.*471G>A (n.*471G>A)
c.1205G>A (p.Ser402Asn)
c.1181G>A (p.Ser394Asn)
n.545G>A
n.6218G>A
c.709G>A
c.1184G>A (p.Ser395Asn)
c.1340G>A (p.Ser447Asn)
c.1391G>A (p.Ser464Asn)
c.*849G>A (n.*849G>A)
c.1368G>A (n.1368G>A)
c.1262G>A (p.Ser421Asn)
c.*105G>A (n.*105G>A)
c.1268G>A (p.Ser423Asn)
c.1244G>A (p.Ser415Asn)
c.1310G>A (p.Ser437Asn)
c.827G>A (p.Ser276Asn)
c.851G>A (p.Ser284Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.162153211G>CCA362183606GABRG2c.1272G>C
c.1367G>C (p.Ser456Thr)
c.1330G>C
n.525G>C
c.962G>C (p.Ser321Thr)
c.986G>C (p.Ser329Thr)
c.*3868G>C (n.*3868G>C)
c.1148G>C
c.638G>C (p.Ser213Thr)
c.1247G>C (p.Ser416Thr)
c.1271G>C (p.Ser424Thr)
c.1934G>C (n.1934G>C)
c.*1452G>C (n.*1452G>C)
c.*471G>C (n.*471G>C)
c.1205G>C (p.Ser402Thr)
c.1181G>C (p.Ser394Thr)
n.545G>C
n.6218G>C
c.709G>C
c.1184G>C (p.Ser395Thr)
c.1340G>C (p.Ser447Thr)
c.1391G>C (p.Ser464Thr)
c.*849G>C (n.*849G>C)
c.1368G>C (n.1368G>C)
c.1262G>C (p.Ser421Thr)
c.*105G>C (n.*105G>C)
c.1268G>C (p.Ser423Thr)
c.1244G>C (p.Ser415Thr)
c.1310G>C (p.Ser437Thr)
c.827G>C (p.Ser276Thr)
c.851G>C (p.Ser284Thr)
5g.162153211G=CA1596382087GABRG2c.1272G=
c.1367G= (p.Ser456=)
c.1330G=
n.525G=
c.962G= (p.Ser321=)
c.986G= (p.Ser329=)
c.*3868G= (n.*3868G=)
c.1148G=
c.638G= (p.Ser213=)
c.1247G= (p.Ser416=)
c.1271G= (p.Ser424=)
c.1934G= (n.1934G=)
c.*1452G= (n.*1452G=)
c.*471G= (n.*471G=)
c.1205G= (p.Ser402=)
c.1181G= (p.Ser394=)
n.545G=
n.6218G=
c.709G=
c.1184G= (p.Ser395=)
c.1340G= (p.Ser447=)
c.1391G= (p.Ser464=)
c.*849G= (n.*849G=)
c.1368G= (n.1368G=)
c.1262G= (p.Ser421=)
c.*105G= (n.*105G=)
c.1268G= (p.Ser423=)
c.1244G= (p.Ser415=)
c.1310G= (p.Ser437=)
c.827G= (p.Ser276=)
c.851G= (p.Ser284=)
5g.162153211G>TCA362183607GABRG2c.1272G>T
c.1367G>T (p.Ser456Ile)
c.1330G>T
n.525G>T
c.962G>T (p.Ser321Ile)
c.986G>T (p.Ser329Ile)
c.*3868G>T (n.*3868G>T)
c.1148G>T
c.638G>T (p.Ser213Ile)
c.1247G>T (p.Ser416Ile)
c.1271G>T (p.Ser424Ile)
c.1934G>T (n.1934G>T)
c.*1452G>T (n.*1452G>T)
c.*471G>T (n.*471G>T)
c.1205G>T (p.Ser402Ile)
c.1181G>T (p.Ser394Ile)
n.545G>T
n.6218G>T
c.709G>T
c.1184G>T (p.Ser395Ile)
c.1340G>T (p.Ser447Ile)
c.1391G>T (p.Ser464Ile)
c.*849G>T (n.*849G>T)
c.1368G>T (n.1368G>T)
c.1262G>T (p.Ser421Ile)
c.*105G>T (n.*105G>T)
c.1268G>T (p.Ser423Ile)
c.1244G>T (p.Ser415Ile)
c.1310G>T (p.Ser437Ile)
c.827G>T (p.Ser276Ile)
c.851G>T (p.Ser284Ile)
 ClinVar COSMIC
5g.162153211_162153212delinsGTCA1596382089GABRG2c.1272_1273delinsGT
c.1367_1368delinsGT (p.Ser456=)
c.1330_1331delinsGT
n.525_526delinsGT
c.962_963delinsGT (p.Ser321=)
c.986_987delinsGT (p.Ser329=)
c.*3868_*3869delinsGT (n.*3868_*3869delinsGT)
c.1148_1149delinsGT
c.638_639delinsGT (p.Ser213=)
c.1247_1248delinsGT (p.Ser416=)
c.1271_1272delinsGT (p.Ser424=)
c.1934_1935delinsGT (n.1934_1935delinsGT)
c.*1452_*1453delinsGT (n.*1452_*1453delinsGT)
c.*471_*472delinsGT (n.*471_*472delinsGT)
c.1205_1206delinsGT (p.Ser402=)
c.1181_1182delinsGT (p.Ser394=)
n.545_546delinsGT
n.6218_6219delinsGT
c.709_710delinsGT
c.1184_1185delinsGT (p.Ser395=)
c.1340_1341delinsGT (p.Ser447=)
c.1391_1392delinsGT (p.Ser464=)
c.*849_*850delinsGT (n.*849_*850delinsGT)
c.1368_1369delinsGT (n.1368_1369delinsGT)
c.1262_1263delinsGT (p.Ser421=)
c.*105_*106delinsGT (n.*105_*106delinsGT)
c.1268_1269delinsGT (p.Ser423=)
c.1244_1245delinsGT (p.Ser415=)
c.1310_1311delinsGT (p.Ser437=)
c.827_828delinsGT (p.Ser276=)
c.851_852delinsGT (p.Ser284=)
5g.162153212T>ACA362183608GABRG2c.1273T>A
c.1368T>A (p.Ser456Arg)
c.1331T>A
n.526T>A
c.963T>A (p.Ser321Arg)
c.987T>A (p.Ser329Arg)
c.*3869T>A (n.*3869T>A)
c.1149T>A
c.639T>A (p.Ser213Arg)
c.1248T>A (p.Ser416Arg)
c.1272T>A (p.Ser424Arg)
c.1935T>A (n.1935T>A)
c.*1453T>A (n.*1453T>A)
c.*472T>A (n.*472T>A)
c.1206T>A (p.Ser402Arg)
c.1182T>A (p.Ser394Arg)
n.546T>A
n.6219T>A
c.710T>A
c.1185T>A (p.Ser395Arg)
c.1341T>A (p.Ser447Arg)
c.1392T>A (p.Ser464Arg)
c.*850T>A (n.*850T>A)
c.1369T>A (n.1369T>A)
c.1263T>A (p.Ser421Arg)
c.*106T>A (n.*106T>A)
c.1269T>A (p.Ser423Arg)
c.1245T>A (p.Ser415Arg)
c.1311T>A (p.Ser437Arg)
c.828T>A (p.Ser276Arg)
c.852T>A (p.Ser284Arg)
5g.162153212T>CCA447691800GABRG2c.1273T>C
c.1368T>C (p.Ser456=)
c.1331T>C
n.526T>C
c.963T>C (p.Ser321=)
c.987T>C (p.Ser329=)
c.*3869T>C (n.*3869T>C)
c.1149T>C
c.639T>C (p.Ser213=)
c.1248T>C (p.Ser416=)
c.1272T>C (p.Ser424=)
c.1935T>C (n.1935T>C)
c.*1453T>C (n.*1453T>C)
c.*472T>C (n.*472T>C)
c.1206T>C (p.Ser402=)
c.1182T>C (p.Ser394=)
n.546T>C
n.6219T>C
c.710T>C
c.1185T>C (p.Ser395=)
c.1341T>C (p.Ser447=)
c.1392T>C (p.Ser464=)
c.*850T>C (n.*850T>C)
c.1369T>C (n.1369T>C)
c.1263T>C (p.Ser421=)
c.*106T>C (n.*106T>C)
c.1269T>C (p.Ser423=)
c.1245T>C (p.Ser415=)
c.1311T>C (p.Ser437=)
c.828T>C (p.Ser276=)
c.852T>C (p.Ser284=)
5g.162153212T>GCA362183609GABRG2c.1273T>G
c.1368T>G (p.Ser456Arg)
c.1331T>G
n.526T>G
c.963T>G (p.Ser321Arg)
c.987T>G (p.Ser329Arg)
c.*3869T>G (n.*3869T>G)
c.1149T>G
c.639T>G (p.Ser213Arg)
c.1248T>G (p.Ser416Arg)
c.1272T>G (p.Ser424Arg)
c.1935T>G (n.1935T>G)
c.*1453T>G (n.*1453T>G)
c.*472T>G (n.*472T>G)
c.1206T>G (p.Ser402Arg)
c.1182T>G (p.Ser394Arg)
n.546T>G
n.6219T>G
c.710T>G
c.1185T>G (p.Ser395Arg)
c.1341T>G (p.Ser447Arg)
c.1392T>G (p.Ser464Arg)
c.*850T>G (n.*850T>G)
c.1369T>G (n.1369T>G)
c.1263T>G (p.Ser421Arg)
c.*106T>G (n.*106T>G)
c.1269T>G (p.Ser423Arg)
c.1245T>G (p.Ser415Arg)
c.1311T>G (p.Ser437Arg)
c.828T>G (p.Ser276Arg)
c.852T>G (p.Ser284Arg)
5g.162153217dupCA1596382094GABRG2c.1278dup
c.1373dup (p.Cys459LeufsTer4)
c.1336dup
n.531dup
c.968dup (p.Cys324LeufsTer4)
c.992dup (p.Cys332LeufsTer4)
c.*3874dup (n.*3874dup)
c.1154dup
c.644dup (p.Cys216LeufsTer4)
c.1253dup (p.Cys419LeufsTer4)
c.1277dup (p.Cys427LeufsTer4)
c.1940dup (n.1940dup)
c.*1458dup (n.*1458dup)
c.*477dup (n.*477dup)
c.1211dup (p.Cys405LeufsTer4)
c.1187dup (p.Cys397LeufsTer4)
n.551dup
n.6224dup
c.715dup
c.1190dup (p.Cys398LeufsTer4)
c.1346dup (p.Cys450LeufsTer4)
c.1397dup (p.Cys467LeufsTer4)
c.*855dup (n.*855dup)
c.1374dup (n.1374dup)
c.1268dup (p.Cys424LeufsTer4)
c.*111dup (n.*111dup)
c.1274dup (p.Cys426LeufsTer4)
c.1250dup (p.Cys418LeufsTer4)
c.1316dup (p.Cys440LeufsTer4)
c.833dup (p.Cys279LeufsTer4)
c.857dup (p.Cys287LeufsTer4)
 ClinVar dbSNP
5g.162153217delCA564438696GABRG2c.1278del
c.1373del (p.Phe458SerfsTer?)
c.1336del
n.531del
c.968del (p.Phe323SerfsTer?)
c.992del (p.Phe331SerfsTer?)
c.*3874del (n.*3874del)
c.1154del
c.644del (p.Phe215SerfsTer?)
c.1253del (p.Phe418SerfsTer?)
c.1277del (p.Phe426SerfsTer?)
c.1940del (n.1940del)
c.*1458del (n.*1458del)
c.*477del (n.*477del)
c.1211del (p.Phe404SerfsTer?)
c.1187del (p.Phe396SerfsTer?)
n.551del
n.6224del
c.715del
c.1190del (p.Phe397SerfsTer?)
c.1346del (p.Phe449SerfsTer?)
c.1397del (p.Phe466SerfsTer?)
c.*855del (n.*855del)
c.1374del (n.1374del)
c.1268del (p.Phe423SerfsTer?)
c.*111del (n.*111del)
c.1274del (p.Phe425SerfsTer?)
c.1250del (p.Phe417SerfsTer?)
c.1316del (p.Phe439SerfsTer?)
c.833del (p.Phe278SerfsTer?)
c.857del (p.Phe286SerfsTer?)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.162153213T>ACA362183610GABRG2c.1274T>A
c.1369T>A (p.Phe457Ile)
c.1332T>A
n.527T>A
c.964T>A (p.Phe322Ile)
c.988T>A (p.Phe330Ile)
c.*3870T>A (n.*3870T>A)
c.1150T>A
c.640T>A (p.Phe214Ile)
c.1249T>A (p.Phe417Ile)
c.1273T>A (p.Phe425Ile)
c.1936T>A (n.1936T>A)
c.*1454T>A (n.*1454T>A)
c.*473T>A (n.*473T>A)
c.1207T>A (p.Phe403Ile)
c.1183T>A (p.Phe395Ile)
n.547T>A
n.6220T>A
c.711T>A
c.1186T>A (p.Phe396Ile)
c.1342T>A (p.Phe448Ile)
c.1393T>A (p.Phe465Ile)
c.*851T>A (n.*851T>A)
c.1370T>A (n.1370T>A)
c.1264T>A (p.Phe422Ile)
c.*107T>A (n.*107T>A)
c.1270T>A (p.Phe424Ile)
c.1246T>A (p.Phe416Ile)
c.1312T>A (p.Phe438Ile)
c.829T>A (p.Phe277Ile)
c.853T>A (p.Phe285Ile)
5g.162153213T>CCA362183611GABRG2c.1274T>C
c.1369T>C (p.Phe457Leu)
c.1332T>C
n.527T>C
c.964T>C (p.Phe322Leu)
c.988T>C (p.Phe330Leu)
c.*3870T>C (n.*3870T>C)
c.1150T>C
c.640T>C (p.Phe214Leu)
c.1249T>C (p.Phe417Leu)
c.1273T>C (p.Phe425Leu)
c.1936T>C (n.1936T>C)
c.*1454T>C (n.*1454T>C)
c.*473T>C (n.*473T>C)
c.1207T>C (p.Phe403Leu)
c.1183T>C (p.Phe395Leu)
n.547T>C
n.6220T>C
c.711T>C
c.1186T>C (p.Phe396Leu)
c.1342T>C (p.Phe448Leu)
c.1393T>C (p.Phe465Leu)
c.*851T>C (n.*851T>C)
c.1370T>C (n.1370T>C)
c.1264T>C (p.Phe422Leu)
c.*107T>C (n.*107T>C)
c.1270T>C (p.Phe424Leu)
c.1246T>C (p.Phe416Leu)
c.1312T>C (p.Phe438Leu)
c.829T>C (p.Phe277Leu)
c.853T>C (p.Phe285Leu)
5g.162153213T>GCA3544985GABRG2c.1274T>G
c.1369T>G (p.Phe457Val)
c.1332T>G
n.527T>G
c.964T>G (p.Phe322Val)
c.988T>G (p.Phe330Val)
c.*3870T>G (n.*3870T>G)
c.1150T>G
c.640T>G (p.Phe214Val)
c.1249T>G (p.Phe417Val)
c.1273T>G (p.Phe425Val)
c.1936T>G (n.1936T>G)
c.*1454T>G (n.*1454T>G)
c.*473T>G (n.*473T>G)
c.1207T>G (p.Phe403Val)
c.1183T>G (p.Phe395Val)
n.547T>G
n.6220T>G
c.711T>G
c.1186T>G (p.Phe396Val)
c.1342T>G (p.Phe448Val)
c.1393T>G (p.Phe465Val)
c.*851T>G (n.*851T>G)
c.1370T>G (n.1370T>G)
c.1264T>G (p.Phe422Val)
c.*107T>G (n.*107T>G)
c.1270T>G (p.Phe424Val)
c.1246T>G (p.Phe416Val)
c.1312T>G (p.Phe438Val)
c.829T>G (p.Phe277Val)
c.853T>G (p.Phe285Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.162153213T=CA1596382096GABRG2c.1274T=
c.1369T= (p.Phe457=)
c.1332T=
n.527T=
c.964T= (p.Phe322=)
c.988T= (p.Phe330=)
c.*3870T= (n.*3870T=)
c.1150T=
c.640T= (p.Phe214=)
c.1249T= (p.Phe417=)
c.1273T= (p.Phe425=)
c.1936T= (n.1936T=)
c.*1454T= (n.*1454T=)
c.*473T= (n.*473T=)
c.1207T= (p.Phe403=)
c.1183T= (p.Phe395=)
n.547T=
n.6220T=
c.711T=
c.1186T= (p.Phe396=)
c.1342T= (p.Phe448=)
c.1393T= (p.Phe465=)
c.*851T= (n.*851T=)
c.1370T= (n.1370T=)
c.1264T= (p.Phe422=)
c.*107T= (n.*107T=)
c.1270T= (p.Phe424=)
c.1246T= (p.Phe416=)
c.1312T= (p.Phe438=)
c.829T= (p.Phe277=)
c.853T= (p.Phe285=)
5g.162153214T>ACA362183612GABRG2c.1275T>A
c.1370T>A (p.Phe457Tyr)
c.1333T>A
n.528T>A
c.965T>A (p.Phe322Tyr)
c.989T>A (p.Phe330Tyr)
c.*3871T>A (n.*3871T>A)
c.1151T>A
c.641T>A (p.Phe214Tyr)
c.1250T>A (p.Phe417Tyr)
c.1274T>A (p.Phe425Tyr)
c.1937T>A (n.1937T>A)
c.*1455T>A (n.*1455T>A)
c.*474T>A (n.*474T>A)
c.1208T>A (p.Phe403Tyr)
c.1184T>A (p.Phe395Tyr)
n.548T>A
n.6221T>A
c.712T>A
c.1187T>A (p.Phe396Tyr)
c.1343T>A (p.Phe448Tyr)
c.1394T>A (p.Phe465Tyr)
c.*852T>A (n.*852T>A)
c.1371T>A (n.1371T>A)
c.1265T>A (p.Phe422Tyr)
c.*108T>A (n.*108T>A)
c.1271T>A (p.Phe424Tyr)
c.1247T>A (p.Phe416Tyr)
c.1313T>A (p.Phe438Tyr)
c.830T>A (p.Phe277Tyr)
c.854T>A (p.Phe285Tyr)
5g.162153214T>CCA362183613GABRG2c.1275T>C
c.1370T>C (p.Phe457Ser)
c.1333T>C
n.528T>C
c.965T>C (p.Phe322Ser)
c.989T>C (p.Phe330Ser)
c.*3871T>C (n.*3871T>C)
c.1151T>C
c.641T>C (p.Phe214Ser)
c.1250T>C (p.Phe417Ser)
c.1274T>C (p.Phe425Ser)
c.1937T>C (n.1937T>C)
c.*1455T>C (n.*1455T>C)
c.*474T>C (n.*474T>C)
c.1208T>C (p.Phe403Ser)
c.1184T>C (p.Phe395Ser)
n.548T>C
n.6221T>C
c.712T>C
c.1187T>C (p.Phe396Ser)
c.1343T>C (p.Phe448Ser)
c.1394T>C (p.Phe465Ser)
c.*852T>C (n.*852T>C)
c.1371T>C (n.1371T>C)
c.1265T>C (p.Phe422Ser)
c.*108T>C (n.*108T>C)
c.1271T>C (p.Phe424Ser)
c.1247T>C (p.Phe416Ser)
c.1313T>C (p.Phe438Ser)
c.830T>C (p.Phe277Ser)
c.854T>C (p.Phe285Ser)
5g.162153214T>GCA362183614GABRG2c.1275T>G
c.1370T>G (p.Phe457Cys)
c.1333T>G
n.528T>G
c.965T>G (p.Phe322Cys)
c.989T>G (p.Phe330Cys)
c.*3871T>G (n.*3871T>G)
c.1151T>G
c.641T>G (p.Phe214Cys)
c.1250T>G (p.Phe417Cys)
c.1274T>G (p.Phe425Cys)
c.1937T>G (n.1937T>G)
c.*1455T>G (n.*1455T>G)
c.*474T>G (n.*474T>G)
c.1208T>G (p.Phe403Cys)
c.1184T>G (p.Phe395Cys)
n.548T>G
n.6221T>G
c.712T>G
c.1187T>G (p.Phe396Cys)
c.1343T>G (p.Phe448Cys)
c.1394T>G (p.Phe465Cys)
c.*852T>G (n.*852T>G)
c.1371T>G (n.1371T>G)
c.1265T>G (p.Phe422Cys)
c.*108T>G (n.*108T>G)
c.1271T>G (p.Phe424Cys)
c.1247T>G (p.Phe416Cys)
c.1313T>G (p.Phe438Cys)
c.830T>G (p.Phe277Cys)
c.854T>G (p.Phe285Cys)
5g.162153215T>ACA362183615GABRG2c.1276T>A
c.1371T>A (p.Phe457Leu)
c.1334T>A
n.529T>A
c.966T>A (p.Phe322Leu)
c.990T>A (p.Phe330Leu)
c.*3872T>A (n.*3872T>A)
c.1152T>A
c.642T>A (p.Phe214Leu)
c.1251T>A (p.Phe417Leu)
c.1275T>A (p.Phe425Leu)
c.1938T>A (n.1938T>A)
c.*1456T>A (n.*1456T>A)
c.*475T>A (n.*475T>A)
c.1209T>A (p.Phe403Leu)
c.1185T>A (p.Phe395Leu)
n.549T>A
n.6222T>A
c.713T>A
c.1188T>A (p.Phe396Leu)
c.1344T>A (p.Phe448Leu)
c.1395T>A (p.Phe465Leu)
c.*853T>A (n.*853T>A)
c.1372T>A (n.1372T>A)
c.1266T>A (p.Phe422Leu)
c.*109T>A (n.*109T>A)
c.1272T>A (p.Phe424Leu)
c.1248T>A (p.Phe416Leu)
c.1314T>A (p.Phe438Leu)
c.831T>A (p.Phe277Leu)
c.855T>A (p.Phe285Leu)
5g.162153215T>CCA3544986GABRG2c.1276T>C
c.1371T>C (p.Phe457=)
c.1334T>C
n.529T>C
c.966T>C (p.Phe322=)
c.990T>C (p.Phe330=)
c.*3872T>C (n.*3872T>C)
c.1152T>C
c.642T>C (p.Phe214=)
c.1251T>C (p.Phe417=)
c.1275T>C (p.Phe425=)
c.1938T>C (n.1938T>C)
c.*1456T>C (n.*1456T>C)
c.*475T>C (n.*475T>C)
c.1209T>C (p.Phe403=)
c.1185T>C (p.Phe395=)
n.549T>C
n.6222T>C
c.713T>C
c.1188T>C (p.Phe396=)
c.1344T>C (p.Phe448=)
c.1395T>C (p.Phe465=)
c.*853T>C (n.*853T>C)
c.1372T>C (n.1372T>C)
c.1266T>C (p.Phe422=)
c.*109T>C (n.*109T>C)
c.1272T>C (p.Phe424=)
c.1248T>C (p.Phe416=)
c.1314T>C (p.Phe438=)
c.831T>C (p.Phe277=)
c.855T>C (p.Phe285=)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.162153215T>GCA362183616GABRG2c.1276T>G
c.1371T>G (p.Phe457Leu)
c.1334T>G
n.529T>G
c.966T>G (p.Phe322Leu)
c.990T>G (p.Phe330Leu)
c.*3872T>G (n.*3872T>G)
c.1152T>G
c.642T>G (p.Phe214Leu)
c.1251T>G (p.Phe417Leu)
c.1275T>G (p.Phe425Leu)
c.1938T>G (n.1938T>G)
c.*1456T>G (n.*1456T>G)
c.*475T>G (n.*475T>G)
c.1209T>G (p.Phe403Leu)
c.1185T>G (p.Phe395Leu)
n.549T>G
n.6222T>G
c.713T>G
c.1188T>G (p.Phe396Leu)
c.1344T>G (p.Phe448Leu)
c.1395T>G (p.Phe465Leu)
c.*853T>G (n.*853T>G)
c.1372T>G (n.1372T>G)
c.1266T>G (p.Phe422Leu)
c.*109T>G (n.*109T>G)
c.1272T>G (p.Phe424Leu)
c.1248T>G (p.Phe416Leu)
c.1314T>G (p.Phe438Leu)
c.831T>G (p.Phe277Leu)
c.855T>G (p.Phe285Leu)
5g.162153215T=CA1596382099GABRG2c.1276T=
c.1371T= (p.Phe457=)
c.1334T=
n.529T=
c.966T= (p.Phe322=)
c.990T= (p.Phe330=)
c.*3872T= (n.*3872T=)
c.1152T=
c.642T= (p.Phe214=)
c.1251T= (p.Phe417=)
c.1275T= (p.Phe425=)
c.1938T= (n.1938T=)
c.*1456T= (n.*1456T=)
c.*475T= (n.*475T=)
c.1209T= (p.Phe403=)
c.1185T= (p.Phe395=)
n.549T=
n.6222T=
c.713T=
c.1188T= (p.Phe396=)
c.1344T= (p.Phe448=)
c.1395T= (p.Phe465=)
c.*853T= (n.*853T=)
c.1372T= (n.1372T=)
c.1266T= (p.Phe422=)
c.*109T= (n.*109T=)
c.1272T= (p.Phe424=)
c.1248T= (p.Phe416=)
c.1314T= (p.Phe438=)
c.831T= (p.Phe277=)
c.855T= (p.Phe285=)
5g.162153216T>ACA362183617GABRG2c.1277T>A
c.1372T>A (p.Phe458Ile)
c.1335T>A
n.530T>A
c.967T>A (p.Phe323Ile)
c.991T>A (p.Phe331Ile)
c.*3873T>A (n.*3873T>A)
c.1153T>A
c.643T>A (p.Phe215Ile)
c.1252T>A (p.Phe418Ile)
c.1276T>A (p.Phe426Ile)
c.1939T>A (n.1939T>A)
c.*1457T>A (n.*1457T>A)
c.*476T>A (n.*476T>A)
c.1210T>A (p.Phe404Ile)
c.1186T>A (p.Phe396Ile)
n.550T>A
n.6223T>A
c.714T>A
c.1189T>A (p.Phe397Ile)
c.1345T>A (p.Phe449Ile)
c.1396T>A (p.Phe466Ile)
c.*854T>A (n.*854T>A)
c.1373T>A (n.1373T>A)
c.1267T>A (p.Phe423Ile)
c.*110T>A (n.*110T>A)
c.1273T>A (p.Phe425Ile)
c.1249T>A (p.Phe417Ile)
c.1315T>A (p.Phe439Ile)
c.832T>A (p.Phe278Ile)
c.856T>A (p.Phe286Ile)
5g.162153216T>CCA362183618GABRG2c.1277T>C
c.1372T>C (p.Phe458Leu)
c.1335T>C
n.530T>C
c.967T>C (p.Phe323Leu)
c.991T>C (p.Phe331Leu)
c.*3873T>C (n.*3873T>C)
c.1153T>C
c.643T>C (p.Phe215Leu)
c.1252T>C (p.Phe418Leu)
c.1276T>C (p.Phe426Leu)
c.1939T>C (n.1939T>C)
c.*1457T>C (n.*1457T>C)
c.*476T>C (n.*476T>C)
c.1210T>C (p.Phe404Leu)
c.1186T>C (p.Phe396Leu)
n.550T>C
n.6223T>C
c.714T>C
c.1189T>C (p.Phe397Leu)
c.1345T>C (p.Phe449Leu)
c.1396T>C (p.Phe466Leu)
c.*854T>C (n.*854T>C)
c.1373T>C (n.1373T>C)
c.1267T>C (p.Phe423Leu)
c.*110T>C (n.*110T>C)
c.1273T>C (p.Phe425Leu)
c.1249T>C (p.Phe417Leu)
c.1315T>C (p.Phe439Leu)
c.832T>C (p.Phe278Leu)
c.856T>C (p.Phe286Leu)
5g.162153216T>GCA362183619GABRG2c.1277T>G
c.1372T>G (p.Phe458Val)
c.1335T>G
n.530T>G
c.967T>G (p.Phe323Val)
c.991T>G (p.Phe331Val)
c.*3873T>G (n.*3873T>G)
c.1153T>G
c.643T>G (p.Phe215Val)
c.1252T>G (p.Phe418Val)
c.1276T>G (p.Phe426Val)
c.1939T>G (n.1939T>G)
c.*1457T>G (n.*1457T>G)
c.*476T>G (n.*476T>G)
c.1210T>G (p.Phe404Val)
c.1186T>G (p.Phe396Val)
n.550T>G
n.6223T>G
c.714T>G
c.1189T>G (p.Phe397Val)
c.1345T>G (p.Phe449Val)
c.1396T>G (p.Phe466Val)
c.*854T>G (n.*854T>G)
c.1373T>G (n.1373T>G)
c.1267T>G (p.Phe423Val)
c.*110T>G (n.*110T>G)
c.1273T>G (p.Phe425Val)
c.1249T>G (p.Phe417Val)
c.1315T>G (p.Phe439Val)
c.832T>G (p.Phe278Val)
c.856T>G (p.Phe286Val)
5g.162153217T>ACA362183620GABRG2c.1278T>A
c.1373T>A (p.Phe458Tyr)
c.1336T>A
n.531T>A
c.968T>A (p.Phe323Tyr)
c.992T>A (p.Phe331Tyr)
c.*3874T>A (n.*3874T>A)
c.1154T>A
c.644T>A (p.Phe215Tyr)
c.1253T>A (p.Phe418Tyr)
c.1277T>A (p.Phe426Tyr)
c.1940T>A (n.1940T>A)
c.*1458T>A (n.*1458T>A)
c.*477T>A (n.*477T>A)
c.1211T>A (p.Phe404Tyr)
c.1187T>A (p.Phe396Tyr)
n.551T>A
n.6224T>A
c.715T>A
c.1190T>A (p.Phe397Tyr)
c.1346T>A (p.Phe449Tyr)
c.1397T>A (p.Phe466Tyr)
c.*855T>A (n.*855T>A)
c.1374T>A (n.1374T>A)
c.1268T>A (p.Phe423Tyr)
c.*111T>A (n.*111T>A)
c.1274T>A (p.Phe425Tyr)
c.1250T>A (p.Phe417Tyr)
c.1316T>A (p.Phe439Tyr)
c.833T>A (p.Phe278Tyr)
c.857T>A (p.Phe286Tyr)
5g.162153217T>CCA362183621GABRG2c.1278T>C
c.1373T>C (p.Phe458Ser)
c.1336T>C
n.531T>C
c.968T>C (p.Phe323Ser)
c.992T>C (p.Phe331Ser)
c.*3874T>C (n.*3874T>C)
c.1154T>C
c.644T>C (p.Phe215Ser)
c.1253T>C (p.Phe418Ser)
c.1277T>C (p.Phe426Ser)
c.1940T>C (n.1940T>C)
c.*1458T>C (n.*1458T>C)
c.*477T>C (n.*477T>C)
c.1211T>C (p.Phe404Ser)
c.1187T>C (p.Phe396Ser)
n.551T>C
n.6224T>C
c.715T>C
c.1190T>C (p.Phe397Ser)
c.1346T>C (p.Phe449Ser)
c.1397T>C (p.Phe466Ser)
c.*855T>C (n.*855T>C)
c.1374T>C (n.1374T>C)
c.1268T>C (p.Phe423Ser)
c.*111T>C (n.*111T>C)
c.1274T>C (p.Phe425Ser)
c.1250T>C (p.Phe417Ser)
c.1316T>C (p.Phe439Ser)
c.833T>C (p.Phe278Ser)
c.857T>C (p.Phe286Ser)
 ClinVar dbSNP
5g.162153217T>GCA362183622GABRG2c.1278T>G
c.1373T>G (p.Phe458Cys)
c.1336T>G
n.531T>G
c.968T>G (p.Phe323Cys)
c.992T>G (p.Phe331Cys)
c.*3874T>G (n.*3874T>G)
c.1154T>G
c.644T>G (p.Phe215Cys)
c.1253T>G (p.Phe418Cys)
c.1277T>G (p.Phe426Cys)
c.1940T>G (n.1940T>G)
c.*1458T>G (n.*1458T>G)
c.*477T>G (n.*477T>G)
c.1211T>G (p.Phe404Cys)
c.1187T>G (p.Phe396Cys)
n.551T>G
n.6224T>G
c.715T>G
c.1190T>G (p.Phe397Cys)
c.1346T>G (p.Phe449Cys)
c.1397T>G (p.Phe466Cys)
c.*855T>G (n.*855T>G)
c.1374T>G (n.1374T>G)
c.1268T>G (p.Phe423Cys)
c.*111T>G (n.*111T>G)
c.1274T>G (p.Phe425Cys)
c.1250T>G (p.Phe417Cys)
c.1316T>G (p.Phe439Cys)
c.833T>G (p.Phe278Cys)
c.857T>G (p.Phe286Cys)
5g.162153218C>ACA362183623GABRG2c.1279C>A
c.1374C>A (p.Phe458Leu)
c.1337C>A
n.532C>A
c.969C>A (p.Phe323Leu)
c.993C>A (p.Phe331Leu)
c.*3875C>A (n.*3875C>A)
c.1155C>A
c.645C>A (p.Phe215Leu)
c.1254C>A (p.Phe418Leu)
c.1278C>A (p.Phe426Leu)
c.1941C>A (n.1941C>A)
c.*1459C>A (n.*1459C>A)
c.*478C>A (n.*478C>A)
c.1212C>A (p.Phe404Leu)
c.1188C>A (p.Phe396Leu)
n.552C>A
n.6225C>A
c.716C>A
c.1191C>A (p.Phe397Leu)
c.1347C>A (p.Phe449Leu)
c.1398C>A (p.Phe466Leu)
c.*856C>A (n.*856C>A)
c.1375C>A (n.1375C>A)
c.1269C>A (p.Phe423Leu)
c.*112C>A (n.*112C>A)
c.1275C>A (p.Phe425Leu)
c.1251C>A (p.Phe417Leu)
c.1317C>A (p.Phe439Leu)
c.834C>A (p.Phe278Leu)
c.858C>A (p.Phe286Leu)
5g.162153218C>GCA362183624GABRG2c.1279C>G
c.1374C>G (p.Phe458Leu)
c.1337C>G
n.532C>G
c.969C>G (p.Phe323Leu)
c.993C>G (p.Phe331Leu)
c.*3875C>G (n.*3875C>G)
c.1155C>G
c.645C>G (p.Phe215Leu)
c.1254C>G (p.Phe418Leu)
c.1278C>G (p.Phe426Leu)
c.1941C>G (n.1941C>G)
c.*1459C>G (n.*1459C>G)
c.*478C>G (n.*478C>G)
c.1212C>G (p.Phe404Leu)
c.1188C>G (p.Phe396Leu)
n.552C>G
n.6225C>G
c.716C>G
c.1191C>G (p.Phe397Leu)
c.1347C>G (p.Phe449Leu)
c.1398C>G (p.Phe466Leu)
c.*856C>G (n.*856C>G)
c.1375C>G (n.1375C>G)
c.1269C>G (p.Phe423Leu)
c.*112C>G (n.*112C>G)
c.1275C>G (p.Phe425Leu)
c.1251C>G (p.Phe417Leu)
c.1317C>G (p.Phe439Leu)
c.834C>G (p.Phe278Leu)
c.858C>G (p.Phe286Leu)
5g.162153218C>TCA447691809GABRG2c.1279C>T
c.1374C>T (p.Phe458=)
c.1337C>T
n.532C>T
c.969C>T (p.Phe323=)
c.993C>T (p.Phe331=)
c.*3875C>T (n.*3875C>T)
c.1155C>T
c.645C>T (p.Phe215=)
c.1254C>T (p.Phe418=)
c.1278C>T (p.Phe426=)
c.1941C>T (n.1941C>T)
c.*1459C>T (n.*1459C>T)
c.*478C>T (n.*478C>T)
c.1212C>T (p.Phe404=)
c.1188C>T (p.Phe396=)
n.552C>T
n.6225C>T
c.716C>T
c.1191C>T (p.Phe397=)
c.1347C>T (p.Phe449=)
c.1398C>T (p.Phe466=)
c.*856C>T (n.*856C>T)
c.1375C>T (n.1375C>T)
c.1269C>T (p.Phe423=)
c.*112C>T (n.*112C>T)
c.1275C>T (p.Phe425=)
c.1251C>T (p.Phe417=)
c.1317C>T (p.Phe439=)
c.834C>T (p.Phe278=)
c.858C>T (p.Phe286=)
5g.162153219T>ACA362183625GABRG2c.1280T>A
c.1375T>A (p.Cys459Ser)
c.1338T>A
n.533T>A
c.970T>A (p.Cys324Ser)
c.994T>A (p.Cys332Ser)
c.*3876T>A (n.*3876T>A)
c.1156T>A
c.646T>A (p.Cys216Ser)
c.1255T>A (p.Cys419Ser)
c.1279T>A (p.Cys427Ser)
c.1942T>A (n.1942T>A)
c.*1460T>A (n.*1460T>A)
c.*479T>A (n.*479T>A)
c.1213T>A (p.Cys405Ser)
c.1189T>A (p.Cys397Ser)
n.553T>A
n.6226T>A
c.717T>A
c.1192T>A (p.Cys398Ser)
c.1348T>A (p.Cys450Ser)
c.1399T>A (p.Cys467Ser)
c.*857T>A (n.*857T>A)
c.1376T>A (n.1376T>A)
c.1270T>A (p.Cys424Ser)
c.*113T>A (n.*113T>A)
c.1276T>A (p.Cys426Ser)
c.1252T>A (p.Cys418Ser)
c.1318T>A (p.Cys440Ser)
c.835T>A (p.Cys279Ser)
c.859T>A (p.Cys287Ser)
5g.162153219T>CCA362183627GABRG2c.1280T>C
c.1375T>C (p.Cys459Arg)
c.1338T>C
n.533T>C
c.970T>C (p.Cys324Arg)
c.994T>C (p.Cys332Arg)
c.*3876T>C (n.*3876T>C)
c.1156T>C
c.646T>C (p.Cys216Arg)
c.1255T>C (p.Cys419Arg)
c.1279T>C (p.Cys427Arg)
c.1942T>C (n.1942T>C)
c.*1460T>C (n.*1460T>C)
c.*479T>C (n.*479T>C)
c.1213T>C (p.Cys405Arg)
c.1189T>C (p.Cys397Arg)
n.553T>C
n.6226T>C
c.717T>C
c.1192T>C (p.Cys398Arg)
c.1348T>C (p.Cys450Arg)
c.1399T>C (p.Cys467Arg)
c.*857T>C (n.*857T>C)
c.1376T>C (n.1376T>C)
c.1270T>C (p.Cys424Arg)
c.*113T>C (n.*113T>C)
c.1276T>C (p.Cys426Arg)
c.1252T>C (p.Cys418Arg)
c.1318T>C (p.Cys440Arg)
c.835T>C (p.Cys279Arg)
c.859T>C (p.Cys287Arg)
 ClinVar dbSNP
5g.162153219T>GCA362183626GABRG2c.1280T>G
c.1375T>G (p.Cys459Gly)
c.1338T>G
n.533T>G
c.970T>G (p.Cys324Gly)
c.994T>G (p.Cys332Gly)
c.*3876T>G (n.*3876T>G)
c.1156T>G
c.646T>G (p.Cys216Gly)
c.1255T>G (p.Cys419Gly)
c.1279T>G (p.Cys427Gly)
c.1942T>G (n.1942T>G)
c.*1460T>G (n.*1460T>G)
c.*479T>G (n.*479T>G)
c.1213T>G (p.Cys405Gly)
c.1189T>G (p.Cys397Gly)
n.553T>G
n.6226T>G
c.717T>G
c.1192T>G (p.Cys398Gly)
c.1348T>G (p.Cys450Gly)
c.1399T>G (p.Cys467Gly)
c.*857T>G (n.*857T>G)
c.1376T>G (n.1376T>G)
c.1270T>G (p.Cys424Gly)
c.*113T>G (n.*113T>G)
c.1276T>G (p.Cys426Gly)
c.1252T>G (p.Cys418Gly)
c.1318T>G (p.Cys440Gly)
c.835T>G (p.Cys279Gly)
c.859T>G (p.Cys287Gly)
 dbSNP gnomAD v2 gnomAD v4
5g.162153219T=CA1596382104GABRG2c.1280T=
c.1375T= (p.Cys459=)
c.1338T=
n.533T=
c.970T= (p.Cys324=)
c.994T= (p.Cys332=)
c.*3876T= (n.*3876T=)
c.1156T=
c.646T= (p.Cys216=)
c.1255T= (p.Cys419=)
c.1279T= (p.Cys427=)
c.1942T= (n.1942T=)
c.*1460T= (n.*1460T=)
c.*479T= (n.*479T=)
c.1213T= (p.Cys405=)
c.1189T= (p.Cys397=)
n.553T=
n.6226T=
c.717T=
c.1192T= (p.Cys398=)
c.1348T= (p.Cys450=)
c.1399T= (p.Cys467=)
c.*857T= (n.*857T=)
c.1376T= (n.1376T=)
c.1270T= (p.Cys424=)
c.*113T= (n.*113T=)
c.1276T= (p.Cys426=)
c.1252T= (p.Cys418=)
c.1318T= (p.Cys440=)
c.835T= (p.Cys279=)
c.859T= (p.Cys287=)
5g.162153220G>ACA362183628GABRG2c.1281G>A
c.1376G>A (p.Cys459Tyr)
c.1339G>A
n.534G>A
c.971G>A (p.Cys324Tyr)
c.995G>A (p.Cys332Tyr)
c.*3877G>A (n.*3877G>A)
c.1157G>A
c.647G>A (p.Cys216Tyr)
c.1256G>A (p.Cys419Tyr)
c.1280G>A (p.Cys427Tyr)
c.1943G>A (n.1943G>A)
c.*1461G>A (n.*1461G>A)
c.*480G>A (n.*480G>A)
c.1214G>A (p.Cys405Tyr)
c.1190G>A (p.Cys397Tyr)
n.554G>A
n.6227G>A
c.718G>A
c.1193G>A (p.Cys398Tyr)
c.1349G>A (p.Cys450Tyr)
c.1400G>A (p.Cys467Tyr)
c.*858G>A (n.*858G>A)
c.1377G>A (n.1377G>A)
c.1271G>A (p.Cys424Tyr)
c.*114G>A (n.*114G>A)
c.1277G>A (p.Cys426Tyr)
c.1253G>A (p.Cys418Tyr)
c.1319G>A (p.Cys440Tyr)
c.836G>A (p.Cys279Tyr)
c.860G>A (p.Cys287Tyr)
5g.162153220G>CCA362183629GABRG2c.1281G>C
c.1376G>C (p.Cys459Ser)
c.1339G>C
n.534G>C
c.971G>C (p.Cys324Ser)
c.995G>C (p.Cys332Ser)
c.*3877G>C (n.*3877G>C)
c.1157G>C
c.647G>C (p.Cys216Ser)
c.1256G>C (p.Cys419Ser)
c.1280G>C (p.Cys427Ser)
c.1943G>C (n.1943G>C)
c.*1461G>C (n.*1461G>C)
c.*480G>C (n.*480G>C)
c.1214G>C (p.Cys405Ser)
c.1190G>C (p.Cys397Ser)
n.554G>C
n.6227G>C
c.718G>C
c.1193G>C (p.Cys398Ser)
c.1349G>C (p.Cys450Ser)
c.1400G>C (p.Cys467Ser)
c.*858G>C (n.*858G>C)
c.1377G>C (n.1377G>C)
c.1271G>C (p.Cys424Ser)
c.*114G>C (n.*114G>C)
c.1277G>C (p.Cys426Ser)
c.1253G>C (p.Cys418Ser)
c.1319G>C (p.Cys440Ser)
c.836G>C (p.Cys279Ser)
c.860G>C (p.Cys287Ser)
5g.162153220G>TCA362183630GABRG2c.1281G>T
c.1376G>T (p.Cys459Phe)
c.1339G>T
n.534G>T
c.971G>T (p.Cys324Phe)
c.995G>T (p.Cys332Phe)
c.*3877G>T (n.*3877G>T)
c.1157G>T
c.647G>T (p.Cys216Phe)
c.1256G>T (p.Cys419Phe)
c.1280G>T (p.Cys427Phe)
c.1943G>T (n.1943G>T)
c.*1461G>T (n.*1461G>T)
c.*480G>T (n.*480G>T)
c.1214G>T (p.Cys405Phe)
c.1190G>T (p.Cys397Phe)
n.554G>T
n.6227G>T
c.718G>T
c.1193G>T (p.Cys398Phe)
c.1349G>T (p.Cys450Phe)
c.1400G>T (p.Cys467Phe)
c.*858G>T (n.*858G>T)
c.1377G>T (n.1377G>T)
c.1271G>T (p.Cys424Phe)
c.*114G>T (n.*114G>T)
c.1277G>T (p.Cys426Phe)
c.1253G>T (p.Cys418Phe)
c.1319G>T (p.Cys440Phe)
c.836G>T (p.Cys279Phe)
c.860G>T (p.Cys287Phe)
5g.162153221C>ACA362183631GABRG2c.1282C>A
c.1377C>A (p.Cys459Ter)
c.1340C>A
n.535C>A
c.972C>A (p.Cys324Ter)
c.996C>A (p.Cys332Ter)
c.*3878C>A (n.*3878C>A)
c.1158C>A
c.648C>A (p.Cys216Ter)
c.1257C>A (p.Cys419Ter)
c.1281C>A (p.Cys427Ter)
c.1944C>A (n.1944C>A)
c.*1462C>A (n.*1462C>A)
c.*481C>A (n.*481C>A)
c.1215C>A (p.Cys405Ter)
c.1191C>A (p.Cys397Ter)
n.555C>A
n.6228C>A
c.719C>A
c.1194C>A (p.Cys398Ter)
c.1350C>A (p.Cys450Ter)
c.1401C>A (p.Cys467Ter)
c.*859C>A (n.*859C>A)
c.1378C>A (n.1378C>A)
c.1272C>A (p.Cys424Ter)
c.*115C>A (n.*115C>A)
c.1278C>A (p.Cys426Ter)
c.1254C>A (p.Cys418Ter)
c.1320C>A (p.Cys440Ter)
c.837C>A (p.Cys279Ter)
c.861C>A (p.Cys287Ter)
5g.162153221C>GCA362183632GABRG2c.1282C>G
c.1377C>G (p.Cys459Trp)
c.1340C>G
n.535C>G
c.972C>G (p.Cys324Trp)
c.996C>G (p.Cys332Trp)
c.*3878C>G (n.*3878C>G)
c.1158C>G
c.648C>G (p.Cys216Trp)
c.1257C>G (p.Cys419Trp)
c.1281C>G (p.Cys427Trp)
c.1944C>G (n.1944C>G)
c.*1462C>G (n.*1462C>G)
c.*481C>G (n.*481C>G)
c.1215C>G (p.Cys405Trp)
c.1191C>G (p.Cys397Trp)
n.555C>G
n.6228C>G
c.719C>G
c.1194C>G (p.Cys398Trp)
c.1350C>G (p.Cys450Trp)
c.1401C>G (p.Cys467Trp)
c.*859C>G (n.*859C>G)
c.1378C>G (n.1378C>G)
c.1272C>G (p.Cys424Trp)
c.*115C>G (n.*115C>G)
c.1278C>G (p.Cys426Trp)
c.1254C>G (p.Cys418Trp)
c.1320C>G (p.Cys440Trp)
c.837C>G (p.Cys279Trp)
c.861C>G (p.Cys287Trp)
5g.162153221C>TCA447691814GABRG2c.1282C>T
c.1377C>T (p.Cys459=)
c.1340C>T
n.535C>T
c.972C>T (p.Cys324=)
c.996C>T (p.Cys332=)
c.*3878C>T (n.*3878C>T)
c.1158C>T
c.648C>T (p.Cys216=)
c.1257C>T (p.Cys419=)
c.1281C>T (p.Cys427=)
c.1944C>T (n.1944C>T)
c.*1462C>T (n.*1462C>T)
c.*481C>T (n.*481C>T)
c.1215C>T (p.Cys405=)
c.1191C>T (p.Cys397=)
n.555C>T
n.6228C>T
c.719C>T
c.1194C>T (p.Cys398=)
c.1350C>T (p.Cys450=)
c.1401C>T (p.Cys467=)
c.*859C>T (n.*859C>T)
c.1378C>T (n.1378C>T)
c.1272C>T (p.Cys424=)
c.*115C>T (n.*115C>T)
c.1278C>T (p.Cys426=)
c.1254C>T (p.Cys418=)
c.1320C>T (p.Cys440=)
c.837C>T (p.Cys279=)
c.861C>T (p.Cys287=)
 COSMIC
5g.162153222T>ACA362183633GABRG2c.1283T>A
c.1378T>A (p.Cys460Ser)
c.1341T>A
n.536T>A
c.973T>A (p.Cys325Ser)
c.997T>A (p.Cys333Ser)
c.*3879T>A (n.*3879T>A)
c.1159T>A
c.649T>A (p.Cys217Ser)
c.1258T>A (p.Cys420Ser)
c.1282T>A (p.Cys428Ser)
c.1945T>A (n.1945T>A)
c.*1463T>A (n.*1463T>A)
c.*482T>A (n.*482T>A)
c.1216T>A (p.Cys406Ser)
c.1192T>A (p.Cys398Ser)
n.556T>A
n.6229T>A
c.720T>A
c.1195T>A (p.Cys399Ser)
c.1351T>A (p.Cys451Ser)
c.1402T>A (p.Cys468Ser)
c.*860T>A (n.*860T>A)
c.1379T>A (n.1379T>A)
c.1273T>A (p.Cys425Ser)
c.*116T>A (n.*116T>A)
c.1279T>A (p.Cys427Ser)
c.1255T>A (p.Cys419Ser)
c.1321T>A (p.Cys441Ser)
c.838T>A (p.Cys280Ser)
c.862T>A (p.Cys288Ser)
5g.162153222T>CCA362183634GABRG2c.1283T>C
c.1378T>C (p.Cys460Arg)
c.1341T>C
n.536T>C
c.973T>C (p.Cys325Arg)
c.997T>C (p.Cys333Arg)
c.*3879T>C (n.*3879T>C)
c.1159T>C
c.649T>C (p.Cys217Arg)
c.1258T>C (p.Cys420Arg)
c.1282T>C (p.Cys428Arg)
c.1945T>C (n.1945T>C)
c.*1463T>C (n.*1463T>C)
c.*482T>C (n.*482T>C)
c.1216T>C (p.Cys406Arg)
c.1192T>C (p.Cys398Arg)
n.556T>C
n.6229T>C
c.720T>C
c.1195T>C (p.Cys399Arg)
c.1351T>C (p.Cys451Arg)
c.1402T>C (p.Cys468Arg)
c.*860T>C (n.*860T>C)
c.1379T>C (n.1379T>C)
c.1273T>C (p.Cys425Arg)
c.*116T>C (n.*116T>C)
c.1279T>C (p.Cys427Arg)
c.1255T>C (p.Cys419Arg)
c.1321T>C (p.Cys441Arg)
c.838T>C (p.Cys280Arg)
c.862T>C (p.Cys288Arg)
 ClinVar
5g.162153222T>GCA362183635GABRG2c.1283T>G
c.1378T>G (p.Cys460Gly)
c.1341T>G
n.536T>G
c.973T>G (p.Cys325Gly)
c.997T>G (p.Cys333Gly)
c.*3879T>G (n.*3879T>G)
c.1159T>G
c.649T>G (p.Cys217Gly)
c.1258T>G (p.Cys420Gly)
c.1282T>G (p.Cys428Gly)
c.1945T>G (n.1945T>G)
c.*1463T>G (n.*1463T>G)
c.*482T>G (n.*482T>G)
c.1216T>G (p.Cys406Gly)
c.1192T>G (p.Cys398Gly)
n.556T>G
n.6229T>G
c.720T>G
c.1195T>G (p.Cys399Gly)
c.1351T>G (p.Cys451Gly)
c.1402T>G (p.Cys468Gly)
c.*860T>G (n.*860T>G)
c.1379T>G (n.1379T>G)
c.1273T>G (p.Cys425Gly)
c.*116T>G (n.*116T>G)
c.1279T>G (p.Cys427Gly)
c.1255T>G (p.Cys419Gly)
c.1321T>G (p.Cys441Gly)
c.838T>G (p.Cys280Gly)
c.862T>G (p.Cys288Gly)
5g.162153223G>ACA362183636GABRG2c.1284G>A
c.1379G>A (p.Cys460Tyr)
c.1342G>A
n.537G>A
c.974G>A (p.Cys325Tyr)
c.998G>A (p.Cys333Tyr)
c.*3880G>A (n.*3880G>A)
c.1160G>A
c.650G>A (p.Cys217Tyr)
c.1259G>A (p.Cys420Tyr)
c.1283G>A (p.Cys428Tyr)
c.1946G>A (n.1946G>A)
c.*1464G>A (n.*1464G>A)
c.*483G>A (n.*483G>A)
c.1217G>A (p.Cys406Tyr)
c.1193G>A (p.Cys398Tyr)
n.557G>A
n.6230G>A
c.721G>A
c.1196G>A (p.Cys399Tyr)
c.1352G>A (p.Cys451Tyr)
c.1403G>A (p.Cys468Tyr)
c.*861G>A (n.*861G>A)
c.1380G>A (n.1380G>A)
c.1274G>A (p.Cys425Tyr)
c.*117G>A (n.*117G>A)
c.1280G>A (p.Cys427Tyr)
c.1256G>A (p.Cys419Tyr)
c.1322G>A (p.Cys441Tyr)
c.839G>A (p.Cys280Tyr)
c.863G>A (p.Cys288Tyr)
5g.162153223G>CCA362183638GABRG2c.1284G>C
c.1379G>C (p.Cys460Ser)
c.1342G>C
n.537G>C
c.974G>C (p.Cys325Ser)
c.998G>C (p.Cys333Ser)
c.*3880G>C (n.*3880G>C)
c.1160G>C
c.650G>C (p.Cys217Ser)
c.1259G>C (p.Cys420Ser)
c.1283G>C (p.Cys428Ser)
c.1946G>C (n.1946G>C)
c.*1464G>C (n.*1464G>C)
c.*483G>C (n.*483G>C)
c.1217G>C (p.Cys406Ser)
c.1193G>C (p.Cys398Ser)
n.557G>C
n.6230G>C
c.721G>C
c.1196G>C (p.Cys399Ser)
c.1352G>C (p.Cys451Ser)
c.1403G>C (p.Cys468Ser)
c.*861G>C (n.*861G>C)
c.1380G>C (n.1380G>C)
c.1274G>C (p.Cys425Ser)
c.*117G>C (n.*117G>C)
c.1280G>C (p.Cys427Ser)
c.1256G>C (p.Cys419Ser)
c.1322G>C (p.Cys441Ser)
c.839G>C (p.Cys280Ser)
c.863G>C (p.Cys288Ser)
5g.162153223G>TCA362183640GABRG2c.1284G>T
c.1379G>T (p.Cys460Phe)
c.1342G>T
n.537G>T
c.974G>T (p.Cys325Phe)
c.998G>T (p.Cys333Phe)
c.*3880G>T (n.*3880G>T)
c.1160G>T
c.650G>T (p.Cys217Phe)
c.1259G>T (p.Cys420Phe)
c.1283G>T (p.Cys428Phe)
c.1946G>T (n.1946G>T)
c.*1464G>T (n.*1464G>T)
c.*483G>T (n.*483G>T)
c.1217G>T (p.Cys406Phe)
c.1193G>T (p.Cys398Phe)
n.557G>T
n.6230G>T
c.721G>T
c.1196G>T (p.Cys399Phe)
c.1352G>T (p.Cys451Phe)
c.1403G>T (p.Cys468Phe)
c.*861G>T (n.*861G>T)
c.1380G>T (n.1380G>T)
c.1274G>T (p.Cys425Phe)
c.*117G>T (n.*117G>T)
c.1280G>T (p.Cys427Phe)
c.1256G>T (p.Cys419Phe)
c.1322G>T (p.Cys441Phe)
c.839G>T (p.Cys280Phe)
c.863G>T (p.Cys288Phe)
5g.162153224T>ACA362183645GABRG2c.1285T>A
c.1380T>A (p.Cys460Ter)
c.1343T>A
n.538T>A
c.975T>A (p.Cys325Ter)
c.999T>A (p.Cys333Ter)
c.*3881T>A (n.*3881T>A)
c.1161T>A
c.651T>A (p.Cys217Ter)
c.1260T>A (p.Cys420Ter)
c.1284T>A (p.Cys428Ter)
c.1947T>A (n.1947T>A)
c.*1465T>A (n.*1465T>A)
c.*484T>A (n.*484T>A)
c.1218T>A (p.Cys406Ter)
c.1194T>A (p.Cys398Ter)
n.558T>A
n.6231T>A
c.722T>A
c.1197T>A (p.Cys399Ter)
c.1353T>A (p.Cys451Ter)
c.1404T>A (p.Cys468Ter)
c.*862T>A (n.*862T>A)
c.1381T>A (n.1381T>A)
c.1275T>A (p.Cys425Ter)
c.*118T>A (n.*118T>A)
c.1281T>A (p.Cys427Ter)
c.1257T>A (p.Cys419Ter)
c.1323T>A (p.Cys441Ter)
c.840T>A (p.Cys280Ter)
c.864T>A (p.Cys288Ter)
5g.162153224T>CCA3544987GABRG2c.1285T>C
c.1380T>C (p.Cys460=)
c.1343T>C
n.538T>C
c.975T>C (p.Cys325=)
c.999T>C (p.Cys333=)
c.*3881T>C (n.*3881T>C)
c.1161T>C
c.651T>C (p.Cys217=)
c.1260T>C (p.Cys420=)
c.1284T>C (p.Cys428=)
c.1947T>C (n.1947T>C)
c.*1465T>C (n.*1465T>C)
c.*484T>C (n.*484T>C)
c.1218T>C (p.Cys406=)
c.1194T>C (p.Cys398=)
n.558T>C
n.6231T>C
c.722T>C
c.1197T>C (p.Cys399=)
c.1353T>C (p.Cys451=)
c.1404T>C (p.Cys468=)
c.*862T>C (n.*862T>C)
c.1381T>C (n.1381T>C)
c.1275T>C (p.Cys425=)
c.*118T>C (n.*118T>C)
c.1281T>C (p.Cys427=)
c.1257T>C (p.Cys419=)
c.1323T>C (p.Cys441=)
c.840T>C (p.Cys280=)
c.864T>C (p.Cys288=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.162153224T>GCA362183643GABRG2c.1285T>G
c.1380T>G (p.Cys460Trp)
c.1343T>G
n.538T>G
c.975T>G (p.Cys325Trp)
c.999T>G (p.Cys333Trp)
c.*3881T>G (n.*3881T>G)
c.1161T>G
c.651T>G (p.Cys217Trp)
c.1260T>G (p.Cys420Trp)
c.1284T>G (p.Cys428Trp)
c.1947T>G (n.1947T>G)
c.*1465T>G (n.*1465T>G)
c.*484T>G (n.*484T>G)
c.1218T>G (p.Cys406Trp)
c.1194T>G (p.Cys398Trp)
n.558T>G
n.6231T>G
c.722T>G
c.1197T>G (p.Cys399Trp)
c.1353T>G (p.Cys451Trp)
c.1404T>G (p.Cys468Trp)
c.*862T>G (n.*862T>G)
c.1381T>G (n.1381T>G)
c.1275T>G (p.Cys425Trp)
c.*118T>G (n.*118T>G)
c.1281T>G (p.Cys427Trp)
c.1257T>G (p.Cys419Trp)
c.1323T>G (p.Cys441Trp)
c.840T>G (p.Cys280Trp)
c.864T>G (p.Cys288Trp)
5g.162153224T=CA1596382109GABRG2c.1285T=
c.1380T= (p.Cys460=)
c.1343T=
n.538T=
c.975T= (p.Cys325=)
c.999T= (p.Cys333=)
c.*3881T= (n.*3881T=)
c.1161T=
c.651T= (p.Cys217=)
c.1260T= (p.Cys420=)
c.1284T= (p.Cys428=)
c.1947T= (n.1947T=)
c.*1465T= (n.*1465T=)
c.*484T= (n.*484T=)
c.1218T= (p.Cys406=)
c.1194T= (p.Cys398=)
n.558T=
n.6231T=
c.722T=
c.1197T= (p.Cys399=)
c.1353T= (p.Cys451=)
c.1404T= (p.Cys468=)
c.*862T= (n.*862T=)
c.1381T= (n.1381T=)
c.1275T= (p.Cys425=)
c.*118T= (n.*118T=)
c.1281T= (p.Cys427=)
c.1257T= (p.Cys419=)
c.1323T= (p.Cys441=)
c.840T= (p.Cys280=)
c.864T= (p.Cys288=)
5g.162153225T>ACA362183647GABRG2c.1286T>A
c.1381T>A (p.Phe461Ile)
c.1344T>A
n.539T>A
c.976T>A (p.Phe326Ile)
c.1000T>A (p.Phe334Ile)
c.*3882T>A (n.*3882T>A)
c.1162T>A
c.652T>A (p.Phe218Ile)
c.1261T>A (p.Phe421Ile)
c.1285T>A (p.Phe429Ile)
c.1948T>A (n.1948T>A)
c.*1466T>A (n.*1466T>A)
c.*485T>A (n.*485T>A)
c.1219T>A (p.Phe407Ile)
c.1195T>A (p.Phe399Ile)
n.559T>A
n.6232T>A
c.723T>A
c.1198T>A (p.Phe400Ile)
c.1354T>A (p.Phe452Ile)
c.1405T>A (p.Phe469Ile)
c.*863T>A (n.*863T>A)
c.1382T>A (n.1382T>A)
c.1276T>A (p.Phe426Ile)
c.*119T>A (n.*119T>A)
c.1282T>A (p.Phe428Ile)
c.1258T>A (p.Phe420Ile)
c.1324T>A (p.Phe442Ile)
c.841T>A (p.Phe281Ile)
c.865T>A (p.Phe289Ile)
5g.162153225T>CCA362183648GABRG2c.1286T>C
c.1381T>C (p.Phe461Leu)
c.1344T>C
n.539T>C
c.976T>C (p.Phe326Leu)
c.1000T>C (p.Phe334Leu)
c.*3882T>C (n.*3882T>C)
c.1162T>C
c.652T>C (p.Phe218Leu)
c.1261T>C (p.Phe421Leu)
c.1285T>C (p.Phe429Leu)
c.1948T>C (n.1948T>C)
c.*1466T>C (n.*1466T>C)
c.*485T>C (n.*485T>C)
c.1219T>C (p.Phe407Leu)
c.1195T>C (p.Phe399Leu)
n.559T>C
n.6232T>C
c.723T>C
c.1198T>C (p.Phe400Leu)
c.1354T>C (p.Phe452Leu)
c.1405T>C (p.Phe469Leu)
c.*863T>C (n.*863T>C)
c.1382T>C (n.1382T>C)
c.1276T>C (p.Phe426Leu)
c.*119T>C (n.*119T>C)
c.1282T>C (p.Phe428Leu)
c.1258T>C (p.Phe420Leu)
c.1324T>C (p.Phe442Leu)
c.841T>C (p.Phe281Leu)
c.865T>C (p.Phe289Leu)
5g.162153225T>GCA362183650GABRG2c.1286T>G
c.1381T>G (p.Phe461Val)
c.1344T>G
n.539T>G
c.976T>G (p.Phe326Val)
c.1000T>G (p.Phe334Val)
c.*3882T>G (n.*3882T>G)
c.1162T>G
c.652T>G (p.Phe218Val)
c.1261T>G (p.Phe421Val)
c.1285T>G (p.Phe429Val)
c.1948T>G (n.1948T>G)
c.*1466T>G (n.*1466T>G)
c.*485T>G (n.*485T>G)
c.1219T>G (p.Phe407Val)
c.1195T>G (p.Phe399Val)
n.559T>G
n.6232T>G
c.723T>G
c.1198T>G (p.Phe400Val)
c.1354T>G (p.Phe452Val)
c.1405T>G (p.Phe469Val)
c.*863T>G (n.*863T>G)
c.1382T>G (n.1382T>G)
c.1276T>G (p.Phe426Val)
c.*119T>G (n.*119T>G)
c.1282T>G (p.Phe428Val)
c.1258T>G (p.Phe420Val)
c.1324T>G (p.Phe442Val)
c.841T>G (p.Phe281Val)
c.865T>G (p.Phe289Val)
5g.162153226T>ACA362183652GABRG2c.1287T>A
c.1382T>A (p.Phe461Tyr)
c.1345T>A
n.540T>A
c.977T>A (p.Phe326Tyr)
c.1001T>A (p.Phe334Tyr)
c.*3883T>A (n.*3883T>A)
c.1163T>A
c.653T>A (p.Phe218Tyr)
c.1262T>A (p.Phe421Tyr)
c.1286T>A (p.Phe429Tyr)
c.1949T>A (n.1949T>A)
c.*1467T>A (n.*1467T>A)
c.*486T>A (n.*486T>A)
c.1220T>A (p.Phe407Tyr)
c.1196T>A (p.Phe399Tyr)
n.560T>A
n.6233T>A
c.724T>A
c.1199T>A (p.Phe400Tyr)
c.1355T>A (p.Phe452Tyr)
c.1406T>A (p.Phe469Tyr)
c.*864T>A (n.*864T>A)
c.1383T>A (n.1383T>A)
c.1277T>A (p.Phe426Tyr)
c.*120T>A (n.*120T>A)
c.1283T>A (p.Phe428Tyr)
c.1259T>A (p.Phe420Tyr)
c.1325T>A (p.Phe442Tyr)
c.842T>A (p.Phe281Tyr)
c.866T>A (p.Phe289Tyr)
5g.162153226T>CCA362183654GABRG2c.1287T>C
c.1382T>C (p.Phe461Ser)
c.1345T>C
n.540T>C
c.977T>C (p.Phe326Ser)
c.1001T>C (p.Phe334Ser)
c.*3883T>C (n.*3883T>C)
c.1163T>C
c.653T>C (p.Phe218Ser)
c.1262T>C (p.Phe421Ser)
c.1286T>C (p.Phe429Ser)
c.1949T>C (n.1949T>C)
c.*1467T>C (n.*1467T>C)
c.*486T>C (n.*486T>C)
c.1220T>C (p.Phe407Ser)
c.1196T>C (p.Phe399Ser)
n.560T>C
n.6233T>C
c.724T>C
c.1199T>C (p.Phe400Ser)
c.1355T>C (p.Phe452Ser)
c.1406T>C (p.Phe469Ser)
c.*864T>C (n.*864T>C)
c.1383T>C (n.1383T>C)
c.1277T>C (p.Phe426Ser)
c.*120T>C (n.*120T>C)
c.1283T>C (p.Phe428Ser)
c.1259T>C (p.Phe420Ser)
c.1325T>C (p.Phe442Ser)
c.842T>C (p.Phe281Ser)
c.866T>C (p.Phe289Ser)
5g.162153226T>GCA362183656GABRG2c.1287T>G
c.1382T>G (p.Phe461Cys)
c.1345T>G
n.540T>G
c.977T>G (p.Phe326Cys)
c.1001T>G (p.Phe334Cys)
c.*3883T>G (n.*3883T>G)
c.1163T>G
c.653T>G (p.Phe218Cys)
c.1262T>G (p.Phe421Cys)
c.1286T>G (p.Phe429Cys)
c.1949T>G (n.1949T>G)
c.*1467T>G (n.*1467T>G)
c.*486T>G (n.*486T>G)
c.1220T>G (p.Phe407Cys)
c.1196T>G (p.Phe399Cys)
n.560T>G
n.6233T>G
c.724T>G
c.1199T>G (p.Phe400Cys)
c.1355T>G (p.Phe452Cys)
c.1406T>G (p.Phe469Cys)
c.*864T>G (n.*864T>G)
c.1383T>G (n.1383T>G)
c.1277T>G (p.Phe426Cys)
c.*120T>G (n.*120T>G)
c.1283T>G (p.Phe428Cys)
c.1259T>G (p.Phe420Cys)
c.1325T>G (p.Phe442Cys)
c.842T>G (p.Phe281Cys)
c.866T>G (p.Phe289Cys)
5g.162153227T>ACA362183658GABRG2c.1288T>A
c.1383T>A (p.Phe461Leu)
c.1346T>A
n.541T>A
c.978T>A (p.Phe326Leu)
c.1002T>A (p.Phe334Leu)
c.*3884T>A (n.*3884T>A)
c.1164T>A
c.654T>A (p.Phe218Leu)
c.1263T>A (p.Phe421Leu)
c.1287T>A (p.Phe429Leu)
c.1950T>A (n.1950T>A)
c.*1468T>A (n.*1468T>A)
c.*487T>A (n.*487T>A)
c.1221T>A (p.Phe407Leu)
c.1197T>A (p.Phe399Leu)
n.561T>A
n.6234T>A
c.725T>A
c.1200T>A (p.Phe400Leu)
c.1356T>A (p.Phe452Leu)
c.1407T>A (p.Phe469Leu)
c.*865T>A (n.*865T>A)
c.1384T>A (n.1384T>A)
c.1278T>A (p.Phe426Leu)
c.*121T>A (n.*121T>A)
c.1284T>A (p.Phe428Leu)
c.1260T>A (p.Phe420Leu)
c.1326T>A (p.Phe442Leu)
c.843T>A (p.Phe281Leu)
c.867T>A (p.Phe289Leu)
 dbSNP gnomAD v3 gnomAD v4
5g.162153227T>CCA447691822GABRG2c.1288T>C
c.1383T>C (p.Phe461=)
c.1346T>C
n.541T>C
c.978T>C (p.Phe326=)
c.1002T>C (p.Phe334=)
c.*3884T>C (n.*3884T>C)
c.1164T>C
c.654T>C (p.Phe218=)
c.1263T>C (p.Phe421=)
c.1287T>C (p.Phe429=)
c.1950T>C (n.1950T>C)
c.*1468T>C (n.*1468T>C)
c.*487T>C (n.*487T>C)
c.1221T>C (p.Phe407=)
c.1197T>C (p.Phe399=)
n.561T>C
n.6234T>C
c.725T>C
c.1200T>C (p.Phe400=)
c.1356T>C (p.Phe452=)
c.1407T>C (p.Phe469=)
c.*865T>C (n.*865T>C)
c.1384T>C (n.1384T>C)
c.1278T>C (p.Phe426=)
c.*121T>C (n.*121T>C)
c.1284T>C (p.Phe428=)
c.1260T>C (p.Phe420=)
c.1326T>C (p.Phe442=)
c.843T>C (p.Phe281=)
c.867T>C (p.Phe289=)
5g.162153227T>GCA362183660GABRG2c.1288T>G
c.1383T>G (p.Phe461Leu)
c.1346T>G
n.541T>G
c.978T>G (p.Phe326Leu)
c.1002T>G (p.Phe334Leu)
c.*3884T>G (n.*3884T>G)
c.1164T>G
c.654T>G (p.Phe218Leu)
c.1263T>G (p.Phe421Leu)
c.1287T>G (p.Phe429Leu)
c.1950T>G (n.1950T>G)
c.*1468T>G (n.*1468T>G)
c.*487T>G (n.*487T>G)
c.1221T>G (p.Phe407Leu)
c.1197T>G (p.Phe399Leu)
n.561T>G
n.6234T>G
c.725T>G
c.1200T>G (p.Phe400Leu)
c.1356T>G (p.Phe452Leu)
c.1407T>G (p.Phe469Leu)
c.*865T>G (n.*865T>G)
c.1384T>G (n.1384T>G)
c.1278T>G (p.Phe426Leu)
c.*121T>G (n.*121T>G)
c.1284T>G (p.Phe428Leu)
c.1260T>G (p.Phe420Leu)
c.1326T>G (p.Phe442Leu)
c.843T>G (p.Phe281Leu)
c.867T>G (p.Phe289Leu)
5g.162153227T=CA1596382114GABRG2c.1288T=
c.1383T= (p.Phe461=)
c.1346T=
n.541T=
c.978T= (p.Phe326=)
c.1002T= (p.Phe334=)
c.*3884T= (n.*3884T=)
c.1164T=
c.654T= (p.Phe218=)
c.1263T= (p.Phe421=)
c.1287T= (p.Phe429=)
c.1950T= (n.1950T=)
c.*1468T= (n.*1468T=)
c.*487T= (n.*487T=)
c.1221T= (p.Phe407=)
c.1197T= (p.Phe399=)
n.561T=
n.6234T=
c.725T=
c.1200T= (p.Phe400=)
c.1356T= (p.Phe452=)
c.1407T= (p.Phe469=)
c.*865T= (n.*865T=)
c.1384T= (n.1384T=)
c.1278T= (p.Phe426=)
c.*121T= (n.*121T=)
c.1284T= (p.Phe428=)
c.1260T= (p.Phe420=)
c.1326T= (p.Phe442=)
c.843T= (p.Phe281=)
c.867T= (p.Phe289=)
5g.162153228G>ACA362183662GABRG2c.1289G>A
c.1384G>A (p.Glu462Lys)
c.1347G>A
n.542G>A
c.979G>A (p.Glu327Lys)
c.1003G>A (p.Glu335Lys)
c.*3885G>A (n.*3885G>A)
c.1165G>A
c.655G>A (p.Glu219Lys)
c.1264G>A (p.Glu422Lys)
c.1288G>A (p.Glu430Lys)
c.1951G>A (n.1951G>A)
c.*1469G>A (n.*1469G>A)
c.*488G>A (n.*488G>A)
c.1222G>A (p.Glu408Lys)
c.1198G>A (p.Glu400Lys)
n.562G>A
n.6235G>A
c.726G>A
c.1201G>A (p.Glu401Lys)
c.1357G>A (p.Glu453Lys)
c.1408G>A (p.Glu470Lys)
c.*866G>A (n.*866G>A)
c.1385G>A (n.1385G>A)
c.1279G>A (p.Glu427Lys)
c.*122G>A (n.*122G>A)
c.1285G>A (p.Glu429Lys)
c.1261G>A (p.Glu421Lys)
c.1327G>A (p.Glu443Lys)
c.844G>A (p.Glu282Lys)
c.868G>A (p.Glu290Lys)
 COSMIC
5g.162153228G>CCA362183664GABRG2c.1289G>C
c.1384G>C (p.Glu462Gln)
c.1347G>C
n.542G>C
c.979G>C (p.Glu327Gln)
c.1003G>C (p.Glu335Gln)
c.*3885G>C (n.*3885G>C)
c.1165G>C
c.655G>C (p.Glu219Gln)
c.1264G>C (p.Glu422Gln)
c.1288G>C (p.Glu430Gln)
c.1951G>C (n.1951G>C)
c.*1469G>C (n.*1469G>C)
c.*488G>C (n.*488G>C)
c.1222G>C (p.Glu408Gln)
c.1198G>C (p.Glu400Gln)
n.562G>C
n.6235G>C
c.726G>C
c.1201G>C (p.Glu401Gln)
c.1357G>C (p.Glu453Gln)
c.1408G>C (p.Glu470Gln)
c.*866G>C (n.*866G>C)
c.1385G>C (n.1385G>C)
c.1279G>C (p.Glu427Gln)
c.*122G>C (n.*122G>C)
c.1285G>C (p.Glu429Gln)
c.1261G>C (p.Glu421Gln)
c.1327G>C (p.Glu443Gln)
c.844G>C (p.Glu282Gln)
c.868G>C (p.Glu290Gln)
 gnomAD v4
5g.162153228G>TCA362183666GABRG2c.1289G>T
c.1384G>T (p.Glu462Ter)
c.1347G>T
n.542G>T
c.979G>T (p.Glu327Ter)
c.1003G>T (p.Glu335Ter)
c.*3885G>T (n.*3885G>T)
c.1165G>T
c.655G>T (p.Glu219Ter)
c.1264G>T (p.Glu422Ter)
c.1288G>T (p.Glu430Ter)
c.1951G>T (n.1951G>T)
c.*1469G>T (n.*1469G>T)
c.*488G>T (n.*488G>T)
c.1222G>T (p.Glu408Ter)
c.1198G>T (p.Glu400Ter)
n.562G>T
n.6235G>T
c.726G>T
c.1201G>T (p.Glu401Ter)
c.1357G>T (p.Glu453Ter)
c.1408G>T (p.Glu470Ter)
c.*866G>T (n.*866G>T)
c.1385G>T (n.1385G>T)
c.1279G>T (p.Glu427Ter)
c.*122G>T (n.*122G>T)
c.1285G>T (p.Glu429Ter)
c.1261G>T (p.Glu421Ter)
c.1327G>T (p.Glu443Ter)
c.844G>T (p.Glu282Ter)
c.868G>T (p.Glu290Ter)
 COSMIC
5g.162153229A>CCA362183669GABRG2c.1290A>C
c.1385A>C (p.Glu462Ala)
c.1348A>C
n.543A>C
c.980A>C (p.Glu327Ala)
c.1004A>C (p.Glu335Ala)
c.*3886A>C (n.*3886A>C)
c.1166A>C
c.656A>C (p.Glu219Ala)
c.1265A>C (p.Glu422Ala)
c.1289A>C (p.Glu430Ala)
c.1952A>C (n.1952A>C)
c.*1470A>C (n.*1470A>C)
c.*489A>C (n.*489A>C)
c.1223A>C (p.Glu408Ala)
c.1199A>C (p.Glu400Ala)
n.563A>C
n.6236A>C
c.727A>C
c.1202A>C (p.Glu401Ala)
c.1358A>C (p.Glu453Ala)
c.1409A>C (p.Glu470Ala)
c.*867A>C (n.*867A>C)
c.1386A>C (n.1386A>C)
c.1280A>C (p.Glu427Ala)
c.*123A>C (n.*123A>C)
c.1286A>C (p.Glu429Ala)
c.1262A>C (p.Glu421Ala)
c.1328A>C (p.Glu443Ala)
c.845A>C (p.Glu282Ala)
c.869A>C (p.Glu290Ala)
5g.162153229A>GCA362183671GABRG2c.1290A>G
c.1385A>G (p.Glu462Gly)
c.1348A>G
n.543A>G
c.980A>G (p.Glu327Gly)
c.1004A>G (p.Glu335Gly)
c.*3886A>G (n.*3886A>G)
c.1166A>G
c.656A>G (p.Glu219Gly)
c.1265A>G (p.Glu422Gly)
c.1289A>G (p.Glu430Gly)
c.1952A>G (n.1952A>G)
c.*1470A>G (n.*1470A>G)
c.*489A>G (n.*489A>G)
c.1223A>G (p.Glu408Gly)
c.1199A>G (p.Glu400Gly)
n.563A>G
n.6236A>G
c.727A>G
c.1202A>G (p.Glu401Gly)
c.1358A>G (p.Glu453Gly)
c.1409A>G (p.Glu470Gly)
c.*867A>G (n.*867A>G)
c.1386A>G (n.1386A>G)
c.1280A>G (p.Glu427Gly)
c.*123A>G (n.*123A>G)
c.1286A>G (p.Glu429Gly)
c.1262A>G (p.Glu421Gly)
c.1328A>G (p.Glu443Gly)
c.845A>G (p.Glu282Gly)
c.869A>G (p.Glu290Gly)
5g.162153229A>TCA362183668GABRG2c.1290A>T
c.1385A>T (p.Glu462Val)
c.1348A>T
n.543A>T
c.980A>T (p.Glu327Val)
c.1004A>T (p.Glu335Val)
c.*3886A>T (n.*3886A>T)
c.1166A>T
c.656A>T (p.Glu219Val)
c.1265A>T (p.Glu422Val)
c.1289A>T (p.Glu430Val)
c.1952A>T (n.1952A>T)
c.*1470A>T (n.*1470A>T)
c.*489A>T (n.*489A>T)
c.1223A>T (p.Glu408Val)
c.1199A>T (p.Glu400Val)
n.563A>T
n.6236A>T
c.727A>T
c.1202A>T (p.Glu401Val)
c.1358A>T (p.Glu453Val)
c.1409A>T (p.Glu470Val)
c.*867A>T (n.*867A>T)
c.1386A>T (n.1386A>T)
c.1280A>T (p.Glu427Val)
c.*123A>T (n.*123A>T)
c.1286A>T (p.Glu429Val)
c.1262A>T (p.Glu421Val)
c.1328A>T (p.Glu443Val)
c.845A>T (p.Glu282Val)
c.869A>T (p.Glu290Val)
5g.162153230A>CCA362183673GABRG2c.1291A>C
c.1386A>C (p.Glu462Asp)
c.1349A>C
n.544A>C
c.981A>C (p.Glu327Asp)
c.1005A>C (p.Glu335Asp)
c.*3887A>C (n.*3887A>C)
c.1167A>C
c.657A>C (p.Glu219Asp)
c.1266A>C (p.Glu422Asp)
c.1290A>C (p.Glu430Asp)
c.1953A>C (n.1953A>C)
c.*1471A>C (n.*1471A>C)
c.*490A>C (n.*490A>C)
c.1224A>C (p.Glu408Asp)
c.1200A>C (p.Glu400Asp)
n.564A>C
n.6237A>C
c.728A>C
c.1203A>C (p.Glu401Asp)
c.1359A>C (p.Glu453Asp)
c.1410A>C (p.Glu470Asp)
c.*868A>C (n.*868A>C)
c.1387A>C (n.1387A>C)
c.1281A>C (p.Glu427Asp)
c.*124A>C (n.*124A>C)
c.1287A>C (p.Glu429Asp)
c.1263A>C (p.Glu421Asp)
c.1329A>C (p.Glu443Asp)
c.846A>C (p.Glu282Asp)
c.870A>C (p.Glu290Asp)
 COSMIC
5g.162153230A>GCA447691826GABRG2c.1291A>G
c.1386A>G (p.Glu462=)
c.1349A>G
n.544A>G
c.981A>G (p.Glu327=)
c.1005A>G (p.Glu335=)
c.*3887A>G (n.*3887A>G)
c.1167A>G
c.657A>G (p.Glu219=)
c.1266A>G (p.Glu422=)
c.1290A>G (p.Glu430=)
c.1953A>G (n.1953A>G)
c.*1471A>G (n.*1471A>G)
c.*490A>G (n.*490A>G)
c.1224A>G (p.Glu408=)
c.1200A>G (p.Glu400=)
n.564A>G
n.6237A>G
c.728A>G
c.1203A>G (p.Glu401=)
c.1359A>G (p.Glu453=)
c.1410A>G (p.Glu470=)
c.*868A>G (n.*868A>G)
c.1387A>G (n.1387A>G)
c.1281A>G (p.Glu427=)
c.*124A>G (n.*124A>G)
c.1287A>G (p.Glu429=)
c.1263A>G (p.Glu421=)
c.1329A>G (p.Glu443=)
c.846A>G (p.Glu282=)
c.870A>G (p.Glu290=)
5g.162153230A>TCA362183674GABRG2c.1291A>T
c.1386A>T (p.Glu462Asp)
c.1349A>T
n.544A>T
c.981A>T (p.Glu327Asp)
c.1005A>T (p.Glu335Asp)
c.*3887A>T (n.*3887A>T)
c.1167A>T
c.657A>T (p.Glu219Asp)
c.1266A>T (p.Glu422Asp)
c.1290A>T (p.Glu430Asp)
c.1953A>T (n.1953A>T)
c.*1471A>T (n.*1471A>T)
c.*490A>T (n.*490A>T)
c.1224A>T (p.Glu408Asp)
c.1200A>T (p.Glu400Asp)
n.564A>T
n.6237A>T
c.728A>T
c.1203A>T (p.Glu401Asp)
c.1359A>T (p.Glu453Asp)
c.1410A>T (p.Glu470Asp)
c.*868A>T (n.*868A>T)
c.1387A>T (n.1387A>T)
c.1281A>T (p.Glu427Asp)
c.*124A>T (n.*124A>T)
c.1287A>T (p.Glu429Asp)
c.1263A>T (p.Glu421Asp)
c.1329A>T (p.Glu443Asp)
c.846A>T (p.Glu282Asp)
c.870A>T (p.Glu290Asp)
5g.162153231G>ACA362183676GABRG2c.1292G>A
c.1387G>A (p.Asp463Asn)
c.1350G>A
n.545G>A
c.982G>A (p.Asp328Asn)
c.1006G>A (p.Asp336Asn)
c.*3888G>A (n.*3888G>A)
c.1168G>A
c.658G>A (p.Asp220Asn)
c.1267G>A (p.Asp423Asn)
c.1291G>A (p.Asp431Asn)
c.1954G>A (n.1954G>A)
c.*1472G>A (n.*1472G>A)
c.*491G>A (n.*491G>A)
c.1225G>A (p.Asp409Asn)
c.1201G>A (p.Asp401Asn)
n.565G>A
n.6238G>A
c.729G>A
c.1204G>A (p.Asp402Asn)
c.1360G>A (p.Asp454Asn)
c.1411G>A (p.Asp471Asn)
c.*869G>A (n.*869G>A)
c.1388G>A (n.1388G>A)
c.1282G>A (p.Asp428Asn)
c.*125G>A (n.*125G>A)
c.1288G>A (p.Asp430Asn)
c.1264G>A (p.Asp422Asn)
c.1330G>A (p.Asp444Asn)
c.847G>A (p.Asp283Asn)
c.871G>A (p.Asp291Asn)
 COSMIC
5g.162153231G>CCA362183677GABRG2c.1292G>C
c.1387G>C (p.Asp463His)
c.1350G>C
n.545G>C
c.982G>C (p.Asp328His)
c.1006G>C (p.Asp336His)
c.*3888G>C (n.*3888G>C)
c.1168G>C
c.658G>C (p.Asp220His)
c.1267G>C (p.Asp423His)
c.1291G>C (p.Asp431His)
c.1954G>C (n.1954G>C)
c.*1472G>C (n.*1472G>C)
c.*491G>C (n.*491G>C)
c.1225G>C (p.Asp409His)
c.1201G>C (p.Asp401His)
n.565G>C
n.6238G>C
c.729G>C
c.1204G>C (p.Asp402His)
c.1360G>C (p.Asp454His)
c.1411G>C (p.Asp471His)
c.*869G>C (n.*869G>C)
c.1388G>C (n.1388G>C)
c.1282G>C (p.Asp428His)
c.*125G>C (n.*125G>C)
c.1288G>C (p.Asp430His)
c.1264G>C (p.Asp422His)
c.1330G>C (p.Asp444His)
c.847G>C (p.Asp283His)
c.871G>C (p.Asp291His)
 ClinVar dbSNP
5g.162153231G=CA1596382116GABRG2c.1292G=
c.1387G= (p.Asp463=)
c.1350G=
n.545G=
c.982G= (p.Asp328=)
c.1006G= (p.Asp336=)
c.*3888G= (n.*3888G=)
c.1168G=
c.658G= (p.Asp220=)
c.1267G= (p.Asp423=)
c.1291G= (p.Asp431=)
c.1954G= (n.1954G=)
c.*1472G= (n.*1472G=)
c.*491G= (n.*491G=)
c.1225G= (p.Asp409=)
c.1201G= (p.Asp401=)
n.565G=
n.6238G=
c.729G=
c.1204G= (p.Asp402=)
c.1360G= (p.Asp454=)
c.1411G= (p.Asp471=)
c.*869G= (n.*869G=)
c.1388G= (n.1388G=)
c.1282G= (p.Asp428=)
c.*125G= (n.*125G=)
c.1288G= (p.Asp430=)
c.1264G= (p.Asp422=)
c.1330G= (p.Asp444=)
c.847G= (p.Asp283=)
c.871G= (p.Asp291=)
5g.162153231G>TCA362183679GABRG2c.1292G>T
c.1387G>T (p.Asp463Tyr)
c.1350G>T
n.545G>T
c.982G>T (p.Asp328Tyr)
c.1006G>T (p.Asp336Tyr)
c.*3888G>T (n.*3888G>T)
c.1168G>T
c.658G>T (p.Asp220Tyr)
c.1267G>T (p.Asp423Tyr)
c.1291G>T (p.Asp431Tyr)
c.1954G>T (n.1954G>T)
c.*1472G>T (n.*1472G>T)
c.*491G>T (n.*491G>T)
c.1225G>T (p.Asp409Tyr)
c.1201G>T (p.Asp401Tyr)
n.565G>T
n.6238G>T
c.729G>T
c.1204G>T (p.Asp402Tyr)
c.1360G>T (p.Asp454Tyr)
c.1411G>T (p.Asp471Tyr)
c.*869G>T (n.*869G>T)
c.1388G>T (n.1388G>T)
c.1282G>T (p.Asp428Tyr)
c.*125G>T (n.*125G>T)
c.1288G>T (p.Asp430Tyr)
c.1264G>T (p.Asp422Tyr)
c.1330G>T (p.Asp444Tyr)
c.847G>T (p.Asp283Tyr)
c.871G>T (p.Asp291Tyr)
 dbSNP
5g.162153232A>CCA362183681GABRG2c.1293A>C
c.1388A>C (p.Asp463Ala)
c.1351A>C
n.546A>C
c.983A>C (p.Asp328Ala)
c.1007A>C (p.Asp336Ala)
c.*3889A>C (n.*3889A>C)
c.1169A>C
c.659A>C (p.Asp220Ala)
c.1268A>C (p.Asp423Ala)
c.1292A>C (p.Asp431Ala)
c.1955A>C (n.1955A>C)
c.*1473A>C (n.*1473A>C)
c.*492A>C (n.*492A>C)
c.1226A>C (p.Asp409Ala)
c.1202A>C (p.Asp401Ala)
n.566A>C
n.6239A>C
c.730A>C
c.1205A>C (p.Asp402Ala)
c.1361A>C (p.Asp454Ala)
c.1412A>C (p.Asp471Ala)
c.*870A>C (n.*870A>C)
c.1389A>C (n.1389A>C)
c.1283A>C (p.Asp428Ala)
c.*126A>C (n.*126A>C)
c.1289A>C (p.Asp430Ala)
c.1265A>C (p.Asp422Ala)
c.1331A>C (p.Asp444Ala)
c.848A>C (p.Asp283Ala)
c.872A>C (p.Asp291Ala)
5g.162153232A>GCA362183682GABRG2c.1293A>G
c.1388A>G (p.Asp463Gly)
c.1351A>G
n.546A>G
c.983A>G (p.Asp328Gly)
c.1007A>G (p.Asp336Gly)
c.*3889A>G (n.*3889A>G)
c.1169A>G
c.659A>G (p.Asp220Gly)
c.1268A>G (p.Asp423Gly)
c.1292A>G (p.Asp431Gly)
c.1955A>G (n.1955A>G)
c.*1473A>G (n.*1473A>G)
c.*492A>G (n.*492A>G)
c.1226A>G (p.Asp409Gly)
c.1202A>G (p.Asp401Gly)
n.566A>G
n.6239A>G
c.730A>G
c.1205A>G (p.Asp402Gly)
c.1361A>G (p.Asp454Gly)
c.1412A>G (p.Asp471Gly)
c.*870A>G (n.*870A>G)
c.1389A>G (n.1389A>G)
c.1283A>G (p.Asp428Gly)
c.*126A>G (n.*126A>G)
c.1289A>G (p.Asp430Gly)
c.1265A>G (p.Asp422Gly)
c.1331A>G (p.Asp444Gly)
c.848A>G (p.Asp283Gly)
c.872A>G (p.Asp291Gly)
5g.162153232A>TCA362183683GABRG2c.1293A>T
c.1388A>T (p.Asp463Val)
c.1351A>T
n.546A>T
c.983A>T (p.Asp328Val)
c.1007A>T (p.Asp336Val)
c.*3889A>T (n.*3889A>T)
c.1169A>T
c.659A>T (p.Asp220Val)
c.1268A>T (p.Asp423Val)
c.1292A>T (p.Asp431Val)
c.1955A>T (n.1955A>T)
c.*1473A>T (n.*1473A>T)
c.*492A>T (n.*492A>T)
c.1226A>T (p.Asp409Val)
c.1202A>T (p.Asp401Val)
n.566A>T
n.6239A>T
c.730A>T
c.1205A>T (p.Asp402Val)
c.1361A>T (p.Asp454Val)
c.1412A>T (p.Asp471Val)
c.*870A>T (n.*870A>T)
c.1389A>T (n.1389A>T)
c.1283A>T (p.Asp428Val)
c.*126A>T (n.*126A>T)
c.1289A>T (p.Asp430Val)
c.1265A>T (p.Asp422Val)
c.1331A>T (p.Asp444Val)
c.848A>T (p.Asp283Val)
c.872A>T (p.Asp291Val)
5g.162153233T>ACA362183685GABRG2c.1294T>A
c.1389T>A (p.Asp463Glu)
c.1352T>A
n.547T>A
c.984T>A (p.Asp328Glu)
c.1008T>A (p.Asp336Glu)
c.*3890T>A (n.*3890T>A)
c.1170T>A
c.660T>A (p.Asp220Glu)
c.1269T>A (p.Asp423Glu)
c.1293T>A (p.Asp431Glu)
c.1956T>A (n.1956T>A)
c.*1474T>A (n.*1474T>A)
c.*493T>A (n.*493T>A)
c.1227T>A (p.Asp409Glu)
c.1203T>A (p.Asp401Glu)
n.567T>A
n.6240T>A
c.731T>A
c.1206T>A (p.Asp402Glu)
c.1362T>A (p.Asp454Glu)
c.1413T>A (p.Asp471Glu)
c.*871T>A (n.*871T>A)
c.1390T>A (n.1390T>A)
c.1284T>A (p.Asp428Glu)
c.*127T>A (n.*127T>A)
c.1290T>A (p.Asp430Glu)
c.1266T>A (p.Asp422Glu)
c.1332T>A (p.Asp444Glu)
c.849T>A (p.Asp283Glu)
c.873T>A (p.Asp291Glu)
5g.162153233T>CCA447691830GABRG2c.1294T>C
c.1389T>C (p.Asp463=)
c.1352T>C
n.547T>C
c.984T>C (p.Asp328=)
c.1008T>C (p.Asp336=)
c.*3890T>C (n.*3890T>C)
c.1170T>C
c.660T>C (p.Asp220=)
c.1269T>C (p.Asp423=)
c.1293T>C (p.Asp431=)
c.1956T>C (n.1956T>C)
c.*1474T>C (n.*1474T>C)
c.*493T>C (n.*493T>C)
c.1227T>C (p.Asp409=)
c.1203T>C (p.Asp401=)
n.567T>C
n.6240T>C
c.731T>C
c.1206T>C (p.Asp402=)
c.1362T>C (p.Asp454=)
c.1413T>C (p.Asp471=)
c.*871T>C (n.*871T>C)
c.1390T>C (n.1390T>C)
c.1284T>C (p.Asp428=)
c.*127T>C (n.*127T>C)
c.1290T>C (p.Asp430=)
c.1266T>C (p.Asp422=)
c.1332T>C (p.Asp444=)
c.849T>C (p.Asp283=)
c.873T>C (p.Asp291=)
 gnomAD v4
5g.162153233T>GCA362183686GABRG2c.1294T>G
c.1389T>G (p.Asp463Glu)
c.1352T>G
n.547T>G
c.984T>G (p.Asp328Glu)
c.1008T>G (p.Asp336Glu)
c.*3890T>G (n.*3890T>G)
c.1170T>G
c.660T>G (p.Asp220Glu)
c.1269T>G (p.Asp423Glu)
c.1293T>G (p.Asp431Glu)
c.1956T>G (n.1956T>G)
c.*1474T>G (n.*1474T>G)
c.*493T>G (n.*493T>G)
c.1227T>G (p.Asp409Glu)
c.1203T>G (p.Asp401Glu)
n.567T>G
n.6240T>G
c.731T>G
c.1206T>G (p.Asp402Glu)
c.1362T>G (p.Asp454Glu)
c.1413T>G (p.Asp471Glu)
c.*871T>G (n.*871T>G)
c.1390T>G (n.1390T>G)
c.1284T>G (p.Asp428Glu)
c.*127T>G (n.*127T>G)
c.1290T>G (p.Asp430Glu)
c.1266T>G (p.Asp422Glu)
c.1332T>G (p.Asp444Glu)
c.849T>G (p.Asp283Glu)
c.873T>G (p.Asp291Glu)
5g.162153234T>ACA362183688GABRG2c.1295T>A
c.1390T>A (p.Cys464Ser)
c.1353T>A
n.548T>A
c.985T>A (p.Cys329Ser)
c.1009T>A (p.Cys337Ser)
c.*3891T>A (n.*3891T>A)
c.1171T>A
c.661T>A (p.Cys221Ser)
c.1270T>A (p.Cys424Ser)
c.1294T>A (p.Cys432Ser)
c.1957T>A (n.1957T>A)
c.*1475T>A (n.*1475T>A)
c.*494T>A (n.*494T>A)
c.1228T>A (p.Cys410Ser)
c.1204T>A (p.Cys402Ser)
n.568T>A
n.6241T>A
c.732T>A
c.1207T>A (p.Cys403Ser)
c.1363T>A (p.Cys455Ser)
c.1414T>A (p.Cys472Ser)
c.*872T>A (n.*872T>A)
c.1391T>A (n.1391T>A)
c.1285T>A (p.Cys429Ser)
c.*128T>A (n.*128T>A)
c.1291T>A (p.Cys431Ser)
c.1267T>A (p.Cys423Ser)
c.1333T>A (p.Cys445Ser)
c.850T>A (p.Cys284Ser)
c.874T>A (p.Cys292Ser)
 COSMIC
5g.162153234T>CCA362183689GABRG2c.1295T>C
c.1390T>C (p.Cys464Arg)
c.1353T>C
n.548T>C
c.985T>C (p.Cys329Arg)
c.1009T>C (p.Cys337Arg)
c.*3891T>C (n.*3891T>C)
c.1171T>C
c.661T>C (p.Cys221Arg)
c.1270T>C (p.Cys424Arg)
c.1294T>C (p.Cys432Arg)
c.1957T>C (n.1957T>C)
c.*1475T>C (n.*1475T>C)
c.*494T>C (n.*494T>C)
c.1228T>C (p.Cys410Arg)
c.1204T>C (p.Cys402Arg)
n.568T>C
n.6241T>C
c.732T>C
c.1207T>C (p.Cys403Arg)
c.1363T>C (p.Cys455Arg)
c.1414T>C (p.Cys472Arg)
c.*872T>C (n.*872T>C)
c.1391T>C (n.1391T>C)
c.1285T>C (p.Cys429Arg)
c.*128T>C (n.*128T>C)
c.1291T>C (p.Cys431Arg)
c.1267T>C (p.Cys423Arg)
c.1333T>C (p.Cys445Arg)
c.850T>C (p.Cys284Arg)
c.874T>C (p.Cys292Arg)
5g.162153234T>GCA362183691GABRG2c.1295T>G
c.1390T>G (p.Cys464Gly)
c.1353T>G
n.548T>G
c.985T>G (p.Cys329Gly)
c.1009T>G (p.Cys337Gly)
c.*3891T>G (n.*3891T>G)
c.1171T>G
c.661T>G (p.Cys221Gly)
c.1270T>G (p.Cys424Gly)
c.1294T>G (p.Cys432Gly)
c.1957T>G (n.1957T>G)
c.*1475T>G (n.*1475T>G)
c.*494T>G (n.*494T>G)
c.1228T>G (p.Cys410Gly)
c.1204T>G (p.Cys402Gly)
n.568T>G
n.6241T>G
c.732T>G
c.1207T>G (p.Cys403Gly)
c.1363T>G (p.Cys455Gly)
c.1414T>G (p.Cys472Gly)
c.*872T>G (n.*872T>G)
c.1391T>G (n.1391T>G)
c.1285T>G (p.Cys429Gly)
c.*128T>G (n.*128T>G)
c.1291T>G (p.Cys431Gly)
c.1267T>G (p.Cys423Gly)
c.1333T>G (p.Cys445Gly)
c.850T>G (p.Cys284Gly)
c.874T>G (p.Cys292Gly)
5g.162153235G>ACA362183696GABRG2c.1296G>A
c.1391G>A (p.Cys464Tyr)
c.1354G>A
n.549G>A
c.986G>A (p.Cys329Tyr)
c.1010G>A (p.Cys337Tyr)
c.*3892G>A (n.*3892G>A)
c.1172G>A
c.662G>A (p.Cys221Tyr)
c.1271G>A (p.Cys424Tyr)
c.1295G>A (p.Cys432Tyr)
c.1958G>A (n.1958G>A)
c.*1476G>A (n.*1476G>A)
c.*495G>A (n.*495G>A)
c.1229G>A (p.Cys410Tyr)
c.1205G>A (p.Cys402Tyr)
n.569G>A
n.6242G>A
c.733G>A
c.1208G>A (p.Cys403Tyr)
c.1364G>A (p.Cys455Tyr)
c.1415G>A (p.Cys472Tyr)
c.*873G>A (n.*873G>A)
c.1392G>A (n.1392G>A)
c.1286G>A (p.Cys429Tyr)
c.*129G>A (n.*129G>A)
c.1292G>A (p.Cys431Tyr)
c.1268G>A (p.Cys423Tyr)
c.1334G>A (p.Cys445Tyr)
c.851G>A (p.Cys284Tyr)
c.875G>A (p.Cys292Tyr)
5g.162153235G>CCA362183695GABRG2c.1296G>C
c.1391G>C (p.Cys464Ser)
c.1354G>C
n.549G>C
c.986G>C (p.Cys329Ser)
c.1010G>C (p.Cys337Ser)
c.*3892G>C (n.*3892G>C)
c.1172G>C
c.662G>C (p.Cys221Ser)
c.1271G>C (p.Cys424Ser)
c.1295G>C (p.Cys432Ser)
c.1958G>C (n.1958G>C)
c.*1476G>C (n.*1476G>C)
c.*495G>C (n.*495G>C)
c.1229G>C (p.Cys410Ser)
c.1205G>C (p.Cys402Ser)
n.569G>C
n.6242G>C
c.733G>C
c.1208G>C (p.Cys403Ser)
c.1364G>C (p.Cys455Ser)
c.1415G>C (p.Cys472Ser)
c.*873G>C (n.*873G>C)
c.1392G>C (n.1392G>C)
c.1286G>C (p.Cys429Ser)
c.*129G>C (n.*129G>C)
c.1292G>C (p.Cys431Ser)
c.1268G>C (p.Cys423Ser)
c.1334G>C (p.Cys445Ser)
c.851G>C (p.Cys284Ser)
c.875G>C (p.Cys292Ser)
5g.162153235G>TCA362183693GABRG2c.1296G>T
c.1391G>T (p.Cys464Phe)
c.1354G>T
n.549G>T
c.986G>T (p.Cys329Phe)
c.1010G>T (p.Cys337Phe)
c.*3892G>T (n.*3892G>T)
c.1172G>T
c.662G>T (p.Cys221Phe)
c.1271G>T (p.Cys424Phe)
c.1295G>T (p.Cys432Phe)
c.1958G>T (n.1958G>T)
c.*1476G>T (n.*1476G>T)
c.*495G>T (n.*495G>T)
c.1229G>T (p.Cys410Phe)
c.1205G>T (p.Cys402Phe)
n.569G>T
n.6242G>T
c.733G>T
c.1208G>T (p.Cys403Phe)
c.1364G>T (p.Cys455Phe)
c.1415G>T (p.Cys472Phe)
c.*873G>T (n.*873G>T)
c.1392G>T (n.1392G>T)
c.1286G>T (p.Cys429Phe)
c.*129G>T (n.*129G>T)
c.1292G>T (p.Cys431Phe)
c.1268G>T (p.Cys423Phe)
c.1334G>T (p.Cys445Phe)
c.851G>T (p.Cys284Phe)
c.875G>T (p.Cys292Phe)
 ClinVar COSMIC
5g.162153236T>ACA362183697GABRG2c.1297T>A
c.1392T>A (p.Cys464Ter)
c.1355T>A
n.550T>A
c.987T>A (p.Cys329Ter)
c.1011T>A (p.Cys337Ter)
c.*3893T>A (n.*3893T>A)
c.1173T>A
c.663T>A (p.Cys221Ter)
c.1272T>A (p.Cys424Ter)
c.1296T>A (p.Cys432Ter)
c.1959T>A (n.1959T>A)
c.*1477T>A (n.*1477T>A)
c.*496T>A (n.*496T>A)
c.1230T>A (p.Cys410Ter)
c.1206T>A (p.Cys402Ter)
n.570T>A
n.6243T>A
c.734T>A
c.1209T>A (p.Cys403Ter)
c.1365T>A (p.Cys455Ter)
c.1416T>A (p.Cys472Ter)
c.*874T>A (n.*874T>A)
c.1393T>A (n.1393T>A)
c.1287T>A (p.Cys429Ter)
c.*130T>A (n.*130T>A)
c.1293T>A (p.Cys431Ter)
c.1269T>A (p.Cys423Ter)
c.1335T>A (p.Cys445Ter)
c.852T>A (p.Cys284Ter)
c.876T>A (p.Cys292Ter)
5g.162153236T>CCA447691835GABRG2c.1297T>C
c.1392T>C (p.Cys464=)
c.1355T>C
n.550T>C
c.987T>C (p.Cys329=)
c.1011T>C (p.Cys337=)
c.*3893T>C (n.*3893T>C)
c.1173T>C
c.663T>C (p.Cys221=)
c.1272T>C (p.Cys424=)
c.1296T>C (p.Cys432=)
c.1959T>C (n.1959T>C)
c.*1477T>C (n.*1477T>C)
c.*496T>C (n.*496T>C)
c.1230T>C (p.Cys410=)
c.1206T>C (p.Cys402=)
n.570T>C
n.6243T>C
c.734T>C
c.1209T>C (p.Cys403=)
c.1365T>C (p.Cys455=)
c.1416T>C (p.Cys472=)
c.*874T>C (n.*874T>C)
c.1393T>C (n.1393T>C)
c.1287T>C (p.Cys429=)
c.*130T>C (n.*130T>C)
c.1293T>C (p.Cys431=)
c.1269T>C (p.Cys423=)
c.1335T>C (p.Cys445=)
c.852T>C (p.Cys284=)
c.876T>C (p.Cys292=)
5g.162153236T>GCA362183698GABRG2c.1297T>G
c.1392T>G (p.Cys464Trp)
c.1355T>G
n.550T>G
c.987T>G (p.Cys329Trp)
c.1011T>G (p.Cys337Trp)
c.*3893T>G (n.*3893T>G)
c.1173T>G
c.663T>G (p.Cys221Trp)
c.1272T>G (p.Cys424Trp)
c.1296T>G (p.Cys432Trp)
c.1959T>G (n.1959T>G)
c.*1477T>G (n.*1477T>G)
c.*496T>G (n.*496T>G)
c.1230T>G (p.Cys410Trp)
c.1206T>G (p.Cys402Trp)
n.570T>G
n.6243T>G
c.734T>G
c.1209T>G (p.Cys403Trp)
c.1365T>G (p.Cys455Trp)
c.1416T>G (p.Cys472Trp)
c.*874T>G (n.*874T>G)
c.1393T>G (n.1393T>G)
c.1287T>G (p.Cys429Trp)
c.*130T>G (n.*130T>G)
c.1293T>G (p.Cys431Trp)
c.1269T>G (p.Cys423Trp)
c.1335T>G (p.Cys445Trp)
c.852T>G (p.Cys284Trp)
c.876T>G (p.Cys292Trp)
5g.162153237C>ACA447691836GABRG2c.1298C>A
c.1393C>A (p.Arg465=)
c.1356C>A
n.551C>A
c.988C>A (p.Arg330=)
c.1012C>A (p.Arg338=)
c.*3894C>A (n.*3894C>A)
c.1174C>A
c.664C>A (p.Arg222=)
c.1273C>A (p.Arg425=)
c.1297C>A (p.Arg433=)
c.1960C>A (n.1960C>A)
c.*1478C>A (n.*1478C>A)
c.*497C>A (n.*497C>A)
c.1231C>A (p.Arg411=)
c.1207C>A (p.Arg403=)
n.571C>A
n.6244C>A
c.735C>A
c.1210C>A (p.Arg404=)
c.1366C>A (p.Arg456=)
c.1417C>A (p.Arg473=)
c.*875C>A (n.*875C>A)
c.1394C>A (n.1394C>A)
c.1288C>A (p.Arg430=)
c.*131C>A (n.*131C>A)
c.1294C>A (p.Arg432=)
c.1270C>A (p.Arg424=)
c.1336C>A (p.Arg446=)
c.853C>A (p.Arg285=)
c.877C>A (p.Arg293=)
5g.162153237C=CA1596382122GABRG2c.1298C=
c.1393C= (p.Arg465=)
c.1356C=
n.551C=
c.988C= (p.Arg330=)
c.1012C= (p.Arg338=)
c.*3894C= (n.*3894C=)
c.1174C=
c.664C= (p.Arg222=)
c.1273C= (p.Arg425=)
c.1297C= (p.Arg433=)
c.1960C= (n.1960C=)
c.*1478C= (n.*1478C=)
c.*497C= (n.*497C=)
c.1231C= (p.Arg411=)
c.1207C= (p.Arg403=)
n.571C=
n.6244C=
c.735C=
c.1210C= (p.Arg404=)
c.1366C= (p.Arg456=)
c.1417C= (p.Arg473=)
c.*875C= (n.*875C=)
c.1394C= (n.1394C=)
c.1288C= (p.Arg430=)
c.*131C= (n.*131C=)
c.1294C= (p.Arg432=)
c.1270C= (p.Arg424=)
c.1336C= (p.Arg446=)
c.853C= (p.Arg285=)
c.877C= (p.Arg293=)
5g.162153237C>GCA362183720GABRG2c.1298C>G
c.1393C>G (p.Arg465Gly)
c.1356C>G
n.551C>G
c.988C>G (p.Arg330Gly)
c.1012C>G (p.Arg338Gly)
c.*3894C>G (n.*3894C>G)
c.1174C>G
c.664C>G (p.Arg222Gly)
c.1273C>G (p.Arg425Gly)
c.1297C>G (p.Arg433Gly)
c.1960C>G (n.1960C>G)
c.*1478C>G (n.*1478C>G)
c.*497C>G (n.*497C>G)
c.1231C>G (p.Arg411Gly)
c.1207C>G (p.Arg403Gly)
n.571C>G
n.6244C>G
c.735C>G
c.1210C>G (p.Arg404Gly)
c.1366C>G (p.Arg456Gly)
c.1417C>G (p.Arg473Gly)
c.*875C>G (n.*875C>G)
c.1394C>G (n.1394C>G)
c.1288C>G (p.Arg430Gly)
c.*131C>G (n.*131C>G)
c.1294C>G (p.Arg432Gly)
c.1270C>G (p.Arg424Gly)
c.1336C>G (p.Arg446Gly)
c.853C>G (p.Arg285Gly)
c.877C>G (p.Arg293Gly)
 dbSNP
5g.162153237C>TCA314747GABRG2c.1298C>T
c.1393C>T (p.Arg465Ter)
c.1356C>T
n.551C>T
c.988C>T (p.Arg330Ter)
c.1012C>T (p.Arg338Ter)
c.*3894C>T (n.*3894C>T)
c.1174C>T
c.664C>T (p.Arg222Ter)
c.1273C>T (p.Arg425Ter)
c.1297C>T (p.Arg433Ter)
c.1960C>T (n.1960C>T)
c.*1478C>T (n.*1478C>T)
c.*497C>T (n.*497C>T)
c.1231C>T (p.Arg411Ter)
c.1207C>T (p.Arg403Ter)
n.571C>T
n.6244C>T
c.735C>T
c.1210C>T (p.Arg404Ter)
c.1366C>T (p.Arg456Ter)
c.1417C>T (p.Arg473Ter)
c.*875C>T (n.*875C>T)
c.1394C>T (n.1394C>T)
c.1288C>T (p.Arg430Ter)
c.*131C>T (n.*131C>T)
c.1294C>T (p.Arg432Ter)
c.1270C>T (p.Arg424Ter)
c.1336C>T (p.Arg446Ter)
c.853C>T (p.Arg285Ter)
c.877C>T (p.Arg293Ter)
 ClinVar dbSNP gnomAD v4
5g.162153237_162153238delinsTCCA645553269GABRG2c.1298_1299delinsTC
c.1393_1394delinsTC (p.Arg465Ser)
c.1356_1357delinsTC
n.551_552delinsTC
c.988_989delinsTC (p.Arg330Ser)
c.1012_1013delinsTC (p.Arg338Ser)
c.*3894_*3895delinsTC (n.*3894_*3895delinsTC)
c.1174_1175delinsTC
c.664_665delinsTC (p.Arg222Ser)
c.1273_1274delinsTC (p.Arg425Ser)
c.1297_1298delinsTC (p.Arg433Ser)
c.1960_1961delinsTC (n.1960_1961delinsTC)
c.*1478_*1479delinsTC (n.*1478_*1479delinsTC)
c.*497_*498delinsTC (n.*497_*498delinsTC)
c.1231_1232delinsTC (p.Arg411Ser)
c.1207_1208delinsTC (p.Arg403Ser)
n.571_572delinsTC
n.6244_6245delinsTC
c.735_736delinsTC
c.1210_1211delinsTC (p.Arg404Ser)
c.1366_1367delinsTC (p.Arg456Ser)
c.1417_1418delinsTC (p.Arg473Ser)
c.*875_*876delinsTC (n.*875_*876delinsTC)
c.1394_1395delinsTC (n.1394_1395delinsTC)
c.1288_1289delinsTC (p.Arg430Ser)
c.*131_*132delinsTC (n.*131_*132delinsTC)
c.1294_1295delinsTC (p.Arg432Ser)
c.1270_1271delinsTC (p.Arg424Ser)
c.1336_1337delinsTC (p.Arg446Ser)
c.853_854delinsTC (p.Arg285Ser)
c.877_878delinsTC (p.Arg293Ser)
 COSMIC
5g.162153238G>ACA3544988GABRG2c.1299G>A
c.1394G>A (p.Arg465Gln)
c.1357G>A
n.552G>A
c.989G>A (p.Arg330Gln)
c.1013G>A (p.Arg338Gln)
c.*3895G>A (n.*3895G>A)
c.1175G>A
c.665G>A (p.Arg222Gln)
c.1274G>A (p.Arg425Gln)
c.1298G>A (p.Arg433Gln)
c.1961G>A (n.1961G>A)
c.*1479G>A (n.*1479G>A)
c.*498G>A (n.*498G>A)
c.1232G>A (p.Arg411Gln)
c.1208G>A (p.Arg403Gln)
n.572G>A
n.6245G>A
c.736G>A
c.1211G>A (p.Arg404Gln)
c.1367G>A (p.Arg456Gln)
c.1418G>A (p.Arg473Gln)
c.*876G>A (n.*876G>A)
c.1395G>A (n.1395G>A)
c.1289G>A (p.Arg430Gln)
c.*132G>A (n.*132G>A)
c.1295G>A (p.Arg432Gln)
c.1271G>A (p.Arg424Gln)
c.1337G>A (p.Arg446Gln)
c.854G>A (p.Arg285Gln)
c.878G>A (p.Arg293Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
5g.162153238G>CCA362183724GABRG2c.1299G>C
c.1394G>C (p.Arg465Pro)
c.1357G>C
n.552G>C
c.989G>C (p.Arg330Pro)
c.1013G>C (p.Arg338Pro)
c.*3895G>C (n.*3895G>C)
c.1175G>C
c.665G>C (p.Arg222Pro)
c.1274G>C (p.Arg425Pro)
c.1298G>C (p.Arg433Pro)
c.1961G>C (n.1961G>C)
c.*1479G>C (n.*1479G>C)
c.*498G>C (n.*498G>C)
c.1232G>C (p.Arg411Pro)
c.1208G>C (p.Arg403Pro)
n.572G>C
n.6245G>C
c.736G>C
c.1211G>C (p.Arg404Pro)
c.1367G>C (p.Arg456Pro)
c.1418G>C (p.Arg473Pro)
c.*876G>C (n.*876G>C)
c.1395G>C (n.1395G>C)
c.1289G>C (p.Arg430Pro)
c.*132G>C (n.*132G>C)
c.1295G>C (p.Arg432Pro)
c.1271G>C (p.Arg424Pro)
c.1337G>C (p.Arg446Pro)
c.854G>C (p.Arg285Pro)
c.878G>C (p.Arg293Pro)
5g.162153238G=CA1596382130GABRG2c.1299G=
c.1394G= (p.Arg465=)
c.1357G=
n.552G=
c.989G= (p.Arg330=)
c.1013G= (p.Arg338=)
c.*3895G= (n.*3895G=)
c.1175G=
c.665G= (p.Arg222=)
c.1274G= (p.Arg425=)
c.1298G= (p.Arg433=)
c.1961G= (n.1961G=)
c.*1479G= (n.*1479G=)
c.*498G= (n.*498G=)
c.1232G= (p.Arg411=)
c.1208G= (p.Arg403=)
n.572G=
n.6245G=
c.736G=
c.1211G= (p.Arg404=)
c.1367G= (p.Arg456=)
c.1418G= (p.Arg473=)
c.*876G= (n.*876G=)
c.1395G= (n.1395G=)
c.1289G= (p.Arg430=)
c.*132G= (n.*132G=)
c.1295G= (p.Arg432=)
c.1271G= (p.Arg424=)
c.1337G= (p.Arg446=)
c.854G= (p.Arg285=)
c.878G= (p.Arg293=)
5g.162153238G>TCA362183726GABRG2c.1299G>T
c.1394G>T (p.Arg465Leu)
c.1357G>T
n.552G>T
c.989G>T (p.Arg330Leu)
c.1013G>T (p.Arg338Leu)
c.*3895G>T (n.*3895G>T)
c.1175G>T
c.665G>T (p.Arg222Leu)
c.1274G>T (p.Arg425Leu)
c.1298G>T (p.Arg433Leu)
c.1961G>T (n.1961G>T)
c.*1479G>T (n.*1479G>T)
c.*498G>T (n.*498G>T)
c.1232G>T (p.Arg411Leu)
c.1208G>T (p.Arg403Leu)
n.572G>T
n.6245G>T
c.736G>T
c.1211G>T (p.Arg404Leu)
c.1367G>T (p.Arg456Leu)
c.1418G>T (p.Arg473Leu)
c.*876G>T (n.*876G>T)
c.1395G>T (n.1395G>T)
c.1289G>T (p.Arg430Leu)
c.*132G>T (n.*132G>T)
c.1295G>T (p.Arg432Leu)
c.1271G>T (p.Arg424Leu)
c.1337G>T (p.Arg446Leu)
c.854G>T (p.Arg285Leu)
c.878G>T (p.Arg293Leu)
5g.162153239A>CCA447691839GABRG2c.1300A>C
c.1395A>C (p.Arg465=)
c.1358A>C
n.553A>C
c.990A>C (p.Arg330=)
c.1014A>C (p.Arg338=)
c.*3896A>C (n.*3896A>C)
c.1176A>C
c.666A>C (p.Arg222=)
c.1275A>C (p.Arg425=)
c.1299A>C (p.Arg433=)
c.1962A>C (n.1962A>C)
c.*1480A>C (n.*1480A>C)
c.*499A>C (n.*499A>C)
c.1233A>C (p.Arg411=)
c.1209A>C (p.Arg403=)
n.573A>C
n.6246A>C
c.737A>C
c.1212A>C (p.Arg404=)
c.1368A>C (p.Arg456=)
c.1419A>C (p.Arg473=)
c.*877A>C (n.*877A>C)
c.1396A>C (n.1396A>C)
c.1290A>C (p.Arg430=)
c.*133A>C (n.*133A>C)
c.1296A>C (p.Arg432=)
c.1272A>C (p.Arg424=)
c.1338A>C (p.Arg446=)
c.855A>C (p.Arg285=)
c.879A>C (p.Arg293=)
5g.162153239A>GCA447691840GABRG2c.1300A>G
c.1395A>G (p.Arg465=)
c.1358A>G
n.553A>G
c.990A>G (p.Arg330=)
c.1014A>G (p.Arg338=)
c.*3896A>G (n.*3896A>G)
c.1176A>G
c.666A>G (p.Arg222=)
c.1275A>G (p.Arg425=)
c.1299A>G (p.Arg433=)
c.1962A>G (n.1962A>G)
c.*1480A>G (n.*1480A>G)
c.*499A>G (n.*499A>G)
c.1233A>G (p.Arg411=)
c.1209A>G (p.Arg403=)
n.573A>G
n.6246A>G
c.737A>G
c.1212A>G (p.Arg404=)
c.1368A>G (p.Arg456=)
c.1419A>G (p.Arg473=)
c.*877A>G (n.*877A>G)
c.1396A>G (n.1396A>G)
c.1290A>G (p.Arg430=)
c.*133A>G (n.*133A>G)
c.1296A>G (p.Arg432=)
c.1272A>G (p.Arg424=)
c.1338A>G (p.Arg446=)
c.855A>G (p.Arg285=)
c.879A>G (p.Arg293=)
5g.162153239A>TCA447691841GABRG2c.1300A>T
c.1395A>T (p.Arg465=)
c.1358A>T
n.553A>T
c.990A>T (p.Arg330=)
c.1014A>T (p.Arg338=)
c.*3896A>T (n.*3896A>T)
c.1176A>T
c.666A>T (p.Arg222=)
c.1275A>T (p.Arg425=)
c.1299A>T (p.Arg433=)
c.1962A>T (n.1962A>T)
c.*1480A>T (n.*1480A>T)
c.*499A>T (n.*499A>T)
c.1233A>T (p.Arg411=)
c.1209A>T (p.Arg403=)
n.573A>T
n.6246A>T
c.737A>T
c.1212A>T (p.Arg404=)
c.1368A>T (p.Arg456=)
c.1419A>T (p.Arg473=)
c.*877A>T (n.*877A>T)
c.1396A>T (n.1396A>T)
c.1290A>T (p.Arg430=)
c.*133A>T (n.*133A>T)
c.1296A>T (p.Arg432=)
c.1272A>T (p.Arg424=)
c.1338A>T (p.Arg446=)
c.855A>T (p.Arg285=)
c.879A>T (p.Arg293=)
5g.162153240A>CCA362183728GABRG2c.1301A>C
c.1396A>C (p.Thr466Pro)
c.1359A>C
n.554A>C
c.991A>C (p.Thr331Pro)
c.1015A>C (p.Thr339Pro)
c.*3897A>C (n.*3897A>C)
c.1177A>C
c.667A>C (p.Thr223Pro)
c.1276A>C (p.Thr426Pro)
c.1300A>C (p.Thr434Pro)
c.1963A>C (n.1963A>C)
c.*1481A>C (n.*1481A>C)
c.*500A>C (n.*500A>C)
c.1234A>C (p.Thr412Pro)
c.1210A>C (p.Thr404Pro)
n.574A>C
n.6247A>C
c.738A>C
c.1213A>C (p.Thr405Pro)
c.1369A>C (p.Thr457Pro)
c.1420A>C (p.Thr474Pro)
c.*878A>C (n.*878A>C)
c.1397A>C (n.1397A>C)
c.1291A>C (p.Thr431Pro)
c.*134A>C (n.*134A>C)
c.1297A>C (p.Thr433Pro)
c.1273A>C (p.Thr425Pro)
c.1339A>C (p.Thr447Pro)
c.856A>C (p.Thr286Pro)
c.880A>C (p.Thr294Pro)
5g.162153240A>GCA362183730GABRG2c.1301A>G
c.1396A>G (p.Thr466Ala)
c.1359A>G
n.554A>G
c.991A>G (p.Thr331Ala)
c.1015A>G (p.Thr339Ala)
c.*3897A>G (n.*3897A>G)
c.1177A>G
c.667A>G (p.Thr223Ala)
c.1276A>G (p.Thr426Ala)
c.1300A>G (p.Thr434Ala)
c.1963A>G (n.1963A>G)
c.*1481A>G (n.*1481A>G)
c.*500A>G (n.*500A>G)
c.1234A>G (p.Thr412Ala)
c.1210A>G (p.Thr404Ala)
n.574A>G
n.6247A>G
c.738A>G
c.1213A>G (p.Thr405Ala)
c.1369A>G (p.Thr457Ala)
c.1420A>G (p.Thr474Ala)
c.*878A>G (n.*878A>G)
c.1397A>G (n.1397A>G)
c.1291A>G (p.Thr431Ala)
c.*134A>G (n.*134A>G)
c.1297A>G (p.Thr433Ala)
c.1273A>G (p.Thr425Ala)
c.1339A>G (p.Thr447Ala)
c.856A>G (p.Thr286Ala)
c.880A>G (p.Thr294Ala)
5g.162153240A>TCA362183731GABRG2c.1301A>T
c.1396A>T (p.Thr466Ser)
c.1359A>T
n.554A>T
c.991A>T (p.Thr331Ser)
c.1015A>T (p.Thr339Ser)
c.*3897A>T (n.*3897A>T)
c.1177A>T
c.667A>T (p.Thr223Ser)
c.1276A>T (p.Thr426Ser)
c.1300A>T (p.Thr434Ser)
c.1963A>T (n.1963A>T)
c.*1481A>T (n.*1481A>T)
c.*500A>T (n.*500A>T)
c.1234A>T (p.Thr412Ser)
c.1210A>T (p.Thr404Ser)
n.574A>T
n.6247A>T
c.738A>T
c.1213A>T (p.Thr405Ser)
c.1369A>T (p.Thr457Ser)
c.1420A>T (p.Thr474Ser)
c.*878A>T (n.*878A>T)
c.1397A>T (n.1397A>T)
c.1291A>T (p.Thr431Ser)
c.*134A>T (n.*134A>T)
c.1297A>T (p.Thr433Ser)
c.1273A>T (p.Thr425Ser)
c.1339A>T (p.Thr447Ser)
c.856A>T (p.Thr286Ser)
c.880A>T (p.Thr294Ser)
5g.162153241C>ACA362183734GABRG2c.1302C>A
c.1397C>A (p.Thr466Lys)
c.1360C>A
n.555C>A
c.992C>A (p.Thr331Lys)
c.1016C>A (p.Thr339Lys)
c.*3898C>A (n.*3898C>A)
c.1178C>A
c.668C>A (p.Thr223Lys)
c.1277C>A (p.Thr426Lys)
c.1301C>A (p.Thr434Lys)
c.1964C>A (n.1964C>A)
c.*1482C>A (n.*1482C>A)
c.*501C>A (n.*501C>A)
c.1235C>A (p.Thr412Lys)
c.1211C>A (p.Thr404Lys)
n.575C>A
n.6248C>A
c.739C>A
c.1214C>A (p.Thr405Lys)
c.1370C>A (p.Thr457Lys)
c.1421C>A (p.Thr474Lys)
c.*879C>A (n.*879C>A)
c.1398C>A (n.1398C>A)
c.1292C>A (p.Thr431Lys)
c.*135C>A (n.*135C>A)
c.1298C>A (p.Thr433Lys)
c.1274C>A (p.Thr425Lys)
c.1340C>A (p.Thr447Lys)
c.857C>A (p.Thr286Lys)
c.881C>A (p.Thr294Lys)
 gnomAD v4
5g.162153241C>GCA362183735GABRG2c.1302C>G
c.1397C>G (p.Thr466Arg)
c.1360C>G
n.555C>G
c.992C>G (p.Thr331Arg)
c.1016C>G (p.Thr339Arg)
c.*3898C>G (n.*3898C>G)
c.1178C>G
c.668C>G (p.Thr223Arg)
c.1277C>G (p.Thr426Arg)
c.1301C>G (p.Thr434Arg)
c.1964C>G (n.1964C>G)
c.*1482C>G (n.*1482C>G)
c.*501C>G (n.*501C>G)
c.1235C>G (p.Thr412Arg)
c.1211C>G (p.Thr404Arg)
n.575C>G
n.6248C>G
c.739C>G
c.1214C>G (p.Thr405Arg)
c.1370C>G (p.Thr457Arg)
c.1421C>G (p.Thr474Arg)
c.*879C>G (n.*879C>G)
c.1398C>G (n.1398C>G)
c.1292C>G (p.Thr431Arg)
c.*135C>G (n.*135C>G)
c.1298C>G (p.Thr433Arg)
c.1274C>G (p.Thr425Arg)
c.1340C>G (p.Thr447Arg)
c.857C>G (p.Thr286Arg)
c.881C>G (p.Thr294Arg)
5g.162153241C>TCA362183737GABRG2c.1302C>T
c.1397C>T (p.Thr466Ile)
c.1360C>T
n.555C>T
c.992C>T (p.Thr331Ile)
c.1016C>T (p.Thr339Ile)
c.*3898C>T (n.*3898C>T)
c.1178C>T
c.668C>T (p.Thr223Ile)
c.1277C>T (p.Thr426Ile)
c.1301C>T (p.Thr434Ile)
c.1964C>T (n.1964C>T)
c.*1482C>T (n.*1482C>T)
c.*501C>T (n.*501C>T)
c.1235C>T (p.Thr412Ile)
c.1211C>T (p.Thr404Ile)
n.575C>T
n.6248C>T
c.739C>T
c.1214C>T (p.Thr405Ile)
c.1370C>T (p.Thr457Ile)
c.1421C>T (p.Thr474Ile)
c.*879C>T (n.*879C>T)
c.1398C>T (n.1398C>T)
c.1292C>T (p.Thr431Ile)
c.*135C>T (n.*135C>T)
c.1298C>T (p.Thr433Ile)
c.1274C>T (p.Thr425Ile)
c.1340C>T (p.Thr447Ile)
c.857C>T (p.Thr286Ile)
c.881C>T (p.Thr294Ile)
5g.162153242A>CCA447691848GABRG2c.1303A>C
c.1398A>C (p.Thr466=)
c.1361A>C
n.556A>C
c.993A>C (p.Thr331=)
c.1017A>C (p.Thr339=)
c.*3899A>C (n.*3899A>C)
c.1179A>C
c.669A>C (p.Thr223=)
c.1278A>C (p.Thr426=)
c.1302A>C (p.Thr434=)
c.1965A>C (n.1965A>C)
c.*1483A>C (n.*1483A>C)
c.*502A>C (n.*502A>C)
c.1236A>C (p.Thr412=)
c.1212A>C (p.Thr404=)
n.576A>C
n.6249A>C
c.740A>C
c.1215A>C (p.Thr405=)
c.1371A>C (p.Thr457=)
c.1422A>C (p.Thr474=)
c.*880A>C (n.*880A>C)
c.1399A>C (n.1399A>C)
c.1293A>C (p.Thr431=)
c.*136A>C (n.*136A>C)
c.1299A>C (p.Thr433=)
c.1275A>C (p.Thr425=)
c.1341A>C (p.Thr447=)
c.858A>C (p.Thr286=)
c.882A>C (p.Thr294=)
5g.162153242A>GCA447691849GABRG2c.1303A>G
c.1398A>G (p.Thr466=)
c.1361A>G
n.556A>G
c.993A>G (p.Thr331=)
c.1017A>G (p.Thr339=)
c.*3899A>G (n.*3899A>G)
c.1179A>G
c.669A>G (p.Thr223=)
c.1278A>G (p.Thr426=)
c.1302A>G (p.Thr434=)
c.1965A>G (n.1965A>G)
c.*1483A>G (n.*1483A>G)
c.*502A>G (n.*502A>G)
c.1236A>G (p.Thr412=)
c.1212A>G (p.Thr404=)
n.576A>G
n.6249A>G
c.740A>G
c.1215A>G (p.Thr405=)
c.1371A>G (p.Thr457=)
c.1422A>G (p.Thr474=)
c.*880A>G (n.*880A>G)
c.1399A>G (n.1399A>G)
c.1293A>G (p.Thr431=)
c.*136A>G (n.*136A>G)
c.1299A>G (p.Thr433=)
c.1275A>G (p.Thr425=)
c.1341A>G (p.Thr447=)
c.858A>G (p.Thr286=)
c.882A>G (p.Thr294=)
5g.162153242A>TCA447691850GABRG2c.1303A>T
c.1398A>T (p.Thr466=)
c.1361A>T
n.556A>T
c.993A>T (p.Thr331=)
c.1017A>T (p.Thr339=)
c.*3899A>T (n.*3899A>T)
c.1179A>T
c.669A>T (p.Thr223=)
c.1278A>T (p.Thr426=)
c.1302A>T (p.Thr434=)
c.1965A>T (n.1965A>T)
c.*1483A>T (n.*1483A>T)
c.*502A>T (n.*502A>T)
c.1236A>T (p.Thr412=)
c.1212A>T (p.Thr404=)
n.576A>T
n.6249A>T
c.740A>T
c.1215A>T (p.Thr405=)
c.1371A>T (p.Thr457=)
c.1422A>T (p.Thr474=)
c.*880A>T (n.*880A>T)
c.1399A>T (n.1399A>T)
c.1293A>T (p.Thr431=)
c.*136A>T (n.*136A>T)
c.1299A>T (p.Thr433=)
c.1275A>T (p.Thr425=)
c.1341A>T (p.Thr447=)
c.858A>T (p.Thr286=)
c.882A>T (p.Thr294=)
 ClinVar
5g.162153243G>ACA362183739GABRG2c.1304G>A
c.1399G>A (p.Gly467Arg)
c.1362G>A
n.557G>A
c.994G>A (p.Gly332Arg)
c.1018G>A (p.Gly340Arg)
c.*3900G>A (n.*3900G>A)
c.1180G>A
c.670G>A (p.Gly224Arg)
c.1279G>A (p.Gly427Arg)
c.1303G>A (p.Gly435Arg)
c.1966G>A (n.1966G>A)
c.*1484G>A (n.*1484G>A)
c.*503G>A (n.*503G>A)
c.1237G>A (p.Gly413Arg)
c.1213G>A (p.Gly405Arg)
n.577G>A
n.6250G>A
c.741G>A
c.1216G>A (p.Gly406Arg)
c.1372G>A (p.Gly458Arg)
c.1423G>A (p.Gly475Arg)
c.*881G>A (n.*881G>A)
c.1400G>A (n.1400G>A)
c.1294G>A (p.Gly432Arg)
c.*137G>A (n.*137G>A)
c.1300G>A (p.Gly434Arg)
c.1276G>A (p.Gly426Arg)
c.1342G>A (p.Gly448Arg)
c.859G>A (p.Gly287Arg)
c.883G>A (p.Gly295Arg)
5g.162153243G>CCA362183742GABRG2c.1304G>C
c.1399G>C (p.Gly467Arg)
c.1362G>C
n.557G>C
c.994G>C (p.Gly332Arg)
c.1018G>C (p.Gly340Arg)
c.*3900G>C (n.*3900G>C)
c.1180G>C
c.670G>C (p.Gly224Arg)
c.1279G>C (p.Gly427Arg)
c.1303G>C (p.Gly435Arg)
c.1966G>C (n.1966G>C)
c.*1484G>C (n.*1484G>C)
c.*503G>C (n.*503G>C)
c.1237G>C (p.Gly413Arg)
c.1213G>C (p.Gly405Arg)
n.577G>C
n.6250G>C
c.741G>C
c.1216G>C (p.Gly406Arg)
c.1372G>C (p.Gly458Arg)
c.1423G>C (p.Gly475Arg)
c.*881G>C (n.*881G>C)
c.1400G>C (n.1400G>C)
c.1294G>C (p.Gly432Arg)
c.*137G>C (n.*137G>C)
c.1300G>C (p.Gly434Arg)
c.1276G>C (p.Gly426Arg)
c.1342G>C (p.Gly448Arg)
c.859G>C (p.Gly287Arg)
c.883G>C (p.Gly295Arg)
5g.162153243G>TCA362183741GABRG2c.1304G>T
c.1399G>T (p.Gly467Ter)
c.1362G>T
n.557G>T
c.994G>T (p.Gly332Ter)
c.1018G>T (p.Gly340Ter)
c.*3900G>T (n.*3900G>T)
c.1180G>T
c.670G>T (p.Gly224Ter)
c.1279G>T (p.Gly427Ter)
c.1303G>T (p.Gly435Ter)
c.1966G>T (n.1966G>T)
c.*1484G>T (n.*1484G>T)
c.*503G>T (n.*503G>T)
c.1237G>T (p.Gly413Ter)
c.1213G>T (p.Gly405Ter)
n.577G>T
n.6250G>T
c.741G>T
c.1216G>T (p.Gly406Ter)
c.1372G>T (p.Gly458Ter)
c.1423G>T (p.Gly475Ter)
c.*881G>T (n.*881G>T)
c.1400G>T (n.1400G>T)
c.1294G>T (p.Gly432Ter)
c.*137G>T (n.*137G>T)
c.1300G>T (p.Gly434Ter)
c.1276G>T (p.Gly426Ter)
c.1342G>T (p.Gly448Ter)
c.859G>T (p.Gly287Ter)
c.883G>T (p.Gly295Ter)
5g.162153244G>ACA362183744GABRG2c.1305G>A
c.1400G>A (p.Gly467Glu)
c.1363G>A
n.558G>A
c.995G>A (p.Gly332Glu)
c.1019G>A (p.Gly340Glu)
c.*3901G>A (n.*3901G>A)
c.1181G>A
c.671G>A (p.Gly224Glu)
c.1280G>A (p.Gly427Glu)
c.1304G>A (p.Gly435Glu)
c.1967G>A (n.1967G>A)
c.*1485G>A (n.*1485G>A)
c.*504G>A (n.*504G>A)
c.1238G>A (p.Gly413Glu)
c.1214G>A (p.Gly405Glu)
n.578G>A
n.6251G>A
c.742G>A
c.1217G>A (p.Gly406Glu)
c.1373G>A (p.Gly458Glu)
c.1424G>A (p.Gly475Glu)
c.*882G>A (n.*882G>A)
c.1401G>A (n.1401G>A)
c.1295G>A (p.Gly432Glu)
c.*138G>A (n.*138G>A)
c.1301G>A (p.Gly434Glu)
c.1277G>A (p.Gly426Glu)
c.1343G>A (p.Gly448Glu)
c.860G>A (p.Gly287Glu)
c.884G>A (p.Gly295Glu)
5g.162153244G>CCA362183748GABRG2c.1305G>C
c.1400G>C (p.Gly467Ala)
c.1363G>C
n.558G>C
c.995G>C (p.Gly332Ala)
c.1019G>C (p.Gly340Ala)
c.*3901G>C (n.*3901G>C)
c.1181G>C
c.671G>C (p.Gly224Ala)
c.1280G>C (p.Gly427Ala)
c.1304G>C (p.Gly435Ala)
c.1967G>C (n.1967G>C)
c.*1485G>C (n.*1485G>C)
c.*504G>C (n.*504G>C)
c.1238G>C (p.Gly413Ala)
c.1214G>C (p.Gly405Ala)
n.578G>C
n.6251G>C
c.742G>C
c.1217G>C (p.Gly406Ala)
c.1373G>C (p.Gly458Ala)
c.1424G>C (p.Gly475Ala)
c.*882G>C (n.*882G>C)
c.1401G>C (n.1401G>C)
c.1295G>C (p.Gly432Ala)
c.*138G>C (n.*138G>C)
c.1301G>C (p.Gly434Ala)
c.1277G>C (p.Gly426Ala)
c.1343G>C (p.Gly448Ala)
c.860G>C (p.Gly287Ala)
c.884G>C (p.Gly295Ala)
 ClinVar
5g.162153244G>TCA362183746GABRG2c.1305G>T
c.1400G>T (p.Gly467Val)
c.1363G>T
n.558G>T
c.995G>T (p.Gly332Val)
c.1019G>T (p.Gly340Val)
c.*3901G>T (n.*3901G>T)
c.1181G>T
c.671G>T (p.Gly224Val)
c.1280G>T (p.Gly427Val)
c.1304G>T (p.Gly435Val)
c.1967G>T (n.1967G>T)
c.*1485G>T (n.*1485G>T)
c.*504G>T (n.*504G>T)
c.1238G>T (p.Gly413Val)
c.1214G>T (p.Gly405Val)
n.578G>T
n.6251G>T
c.742G>T
c.1217G>T (p.Gly406Val)
c.1373G>T (p.Gly458Val)
c.1424G>T (p.Gly475Val)
c.*882G>T (n.*882G>T)
c.1401G>T (n.1401G>T)
c.1295G>T (p.Gly432Val)
c.*138G>T (n.*138G>T)
c.1301G>T (p.Gly434Val)
c.1277G>T (p.Gly426Val)
c.1343G>T (p.Gly448Val)
c.860G>T (p.Gly287Val)
c.884G>T (p.Gly295Val)
5g.162153245A>CCA447691853GABRG2c.1306A>C
c.1401A>C (p.Gly467=)
c.1364A>C
n.559A>C
c.996A>C (p.Gly332=)
c.1020A>C (p.Gly340=)
c.*3902A>C (n.*3902A>C)
c.1182A>C
c.672A>C (p.Gly224=)
c.1281A>C (p.Gly427=)
c.1305A>C (p.Gly435=)
c.1968A>C (n.1968A>C)
c.*1486A>C (n.*1486A>C)
c.*505A>C (n.*505A>C)
c.1239A>C (p.Gly413=)
c.1215A>C (p.Gly405=)
n.579A>C
n.6252A>C
c.743A>C
c.1218A>C (p.Gly406=)
c.1374A>C (p.Gly458=)
c.1425A>C (p.Gly475=)
c.*883A>C (n.*883A>C)
c.1402A>C (n.1402A>C)
c.1296A>C (p.Gly432=)
c.*139A>C (n.*139A>C)
c.1302A>C (p.Gly434=)
c.1278A>C (p.Gly426=)
c.1344A>C (p.Gly448=)
c.861A>C (p.Gly287=)
c.885A>C (p.Gly295=)
5g.162153245A>GCA447691854GABRG2c.1306A>G
c.1401A>G (p.Gly467=)
c.1364A>G
n.559A>G
c.996A>G (p.Gly332=)
c.1020A>G (p.Gly340=)
c.*3902A>G (n.*3902A>G)
c.1182A>G
c.672A>G (p.Gly224=)
c.1281A>G (p.Gly427=)
c.1305A>G (p.Gly435=)
c.1968A>G (n.1968A>G)
c.*1486A>G (n.*1486A>G)
c.*505A>G (n.*505A>G)
c.1239A>G (p.Gly413=)
c.1215A>G (p.Gly405=)
n.579A>G
n.6252A>G
c.743A>G
c.1218A>G (p.Gly406=)
c.1374A>G (p.Gly458=)
c.1425A>G (p.Gly475=)
c.*883A>G (n.*883A>G)
c.1402A>G (n.1402A>G)
c.1296A>G (p.Gly432=)
c.*139A>G (n.*139A>G)
c.1302A>G (p.Gly434=)
c.1278A>G (p.Gly426=)
c.1344A>G (p.Gly448=)
c.861A>G (p.Gly287=)
c.885A>G (p.Gly295=)
 ClinVar dbSNP
5g.162153245A>TCA447691855GABRG2c.1306A>T
c.1401A>T (p.Gly467=)
c.1364A>T
n.559A>T
c.996A>T (p.Gly332=)
c.1020A>T (p.Gly340=)
c.*3902A>T (n.*3902A>T)
c.1182A>T
c.672A>T (p.Gly224=)
c.1281A>T (p.Gly427=)
c.1305A>T (p.Gly435=)
c.1968A>T (n.1968A>T)
c.*1486A>T (n.*1486A>T)
c.*505A>T (n.*505A>T)
c.1239A>T (p.Gly413=)
c.1215A>T (p.Gly405=)
n.579A>T
n.6252A>T
c.743A>T
c.1218A>T (p.Gly406=)
c.1374A>T (p.Gly458=)
c.1425A>T (p.Gly475=)
c.*883A>T (n.*883A>T)
c.1402A>T (n.1402A>T)
c.1296A>T (p.Gly432=)
c.*139A>T (n.*139A>T)
c.1302A>T (p.Gly434=)
c.1278A>T (p.Gly426=)
c.1344A>T (p.Gly448=)
c.861A>T (p.Gly287=)
c.885A>T (p.Gly295=)
5g.162153246G>ACA3544989GABRG2c.1307G>A
c.1402G>A (p.Ala468Thr)
c.1365G>A
n.560G>A
c.997G>A (p.Ala333Thr)
c.1021G>A (p.Ala341Thr)
c.*3903G>A (n.*3903G>A)
c.1183G>A
c.673G>A (p.Ala225Thr)
c.1282G>A (p.Ala428Thr)
c.1306G>A (p.Ala436Thr)
c.1969G>A (n.1969G>A)
c.*1487G>A (n.*1487G>A)
c.*506G>A (n.*506G>A)
c.1240G>A (p.Ala414Thr)
c.1216G>A (p.Ala406Thr)
n.580G>A
n.6253G>A
c.744G>A
c.1219G>A (p.Ala407Thr)
c.1375G>A (p.Ala459Thr)
c.1426G>A (p.Ala476Thr)
c.*884G>A (n.*884G>A)
c.1403G>A (n.1403G>A)
c.1297G>A (p.Ala433Thr)
c.*140G>A (n.*140G>A)
c.1303G>A (p.Ala435Thr)
c.1279G>A (p.Ala427Thr)
c.1345G>A (p.Ala449Thr)
c.862G>A (p.Ala288Thr)
c.886G>A (p.Ala296Thr)
 dbSNP ExAC gnomAD v3 gnomAD v4
5g.162153246G>CCA362183751GABRG2c.1307G>C
c.1402G>C (p.Ala468Pro)
c.1365G>C
n.560G>C
c.997G>C (p.Ala333Pro)
c.1021G>C (p.Ala341Pro)
c.*3903G>C (n.*3903G>C)
c.1183G>C
c.673G>C (p.Ala225Pro)
c.1282G>C (p.Ala428Pro)
c.1306G>C (p.Ala436Pro)
c.1969G>C (n.1969G>C)
c.*1487G>C (n.*1487G>C)
c.*506G>C (n.*506G>C)
c.1240G>C (p.Ala414Pro)
c.1216G>C (p.Ala406Pro)
n.580G>C
n.6253G>C
c.744G>C
c.1219G>C (p.Ala407Pro)
c.1375G>C (p.Ala459Pro)
c.1426G>C (p.Ala476Pro)
c.*884G>C (n.*884G>C)
c.1403G>C (n.1403G>C)
c.1297G>C (p.Ala433Pro)
c.*140G>C (n.*140G>C)
c.1303G>C (p.Ala435Pro)
c.1279G>C (p.Ala427Pro)
c.1345G>C (p.Ala449Pro)
c.862G>C (p.Ala288Pro)
c.886G>C (p.Ala296Pro)
 gnomAD v4
5g.162153246G=CA1596382137GABRG2c.1307G=
c.1402G= (p.Ala468=)
c.1365G=
n.560G=
c.997G= (p.Ala333=)
c.1021G= (p.Ala341=)
c.*3903G= (n.*3903G=)
c.1183G=
c.673G= (p.Ala225=)
c.1282G= (p.Ala428=)
c.1306G= (p.Ala436=)
c.1969G= (n.1969G=)
c.*1487G= (n.*1487G=)
c.*506G= (n.*506G=)
c.1240G= (p.Ala414=)
c.1216G= (p.Ala406=)
n.580G=
n.6253G=
c.744G=
c.1219G= (p.Ala407=)
c.1375G= (p.Ala459=)
c.1426G= (p.Ala476=)
c.*884G= (n.*884G=)
c.1403G= (n.1403G=)
c.1297G= (p.Ala433=)
c.*140G= (n.*140G=)
c.1303G= (p.Ala435=)
c.1279G= (p.Ala427=)
c.1345G= (p.Ala449=)
c.862G= (p.Ala288=)
c.886G= (p.Ala296=)
5g.162153246G>TCA362183750GABRG2c.1307G>T
c.1402G>T (p.Ala468Ser)
c.1365G>T
n.560G>T
c.997G>T (p.Ala333Ser)
c.1021G>T (p.Ala341Ser)
c.*3903G>T (n.*3903G>T)
c.1183G>T
c.673G>T (p.Ala225Ser)
c.1282G>T (p.Ala428Ser)
c.1306G>T (p.Ala436Ser)
c.1969G>T (n.1969G>T)
c.*1487G>T (n.*1487G>T)
c.*506G>T (n.*506G>T)
c.1240G>T (p.Ala414Ser)
c.1216G>T (p.Ala406Ser)
n.580G>T
n.6253G>T
c.744G>T
c.1219G>T (p.Ala407Ser)
c.1375G>T (p.Ala459Ser)
c.1426G>T (p.Ala476Ser)
c.*884G>T (n.*884G>T)
c.1403G>T (n.1403G>T)
c.1297G>T (p.Ala433Ser)
c.*140G>T (n.*140G>T)
c.1303G>T (p.Ala435Ser)
c.1279G>T (p.Ala427Ser)
c.1345G>T (p.Ala449Ser)
c.862G>T (p.Ala288Ser)
c.886G>T (p.Ala296Ser)
 gnomAD v4
5g.162153247C>ACA362183753GABRG2c.1308C>A
c.1403C>A (p.Ala468Asp)
c.1366C>A
n.561C>A
c.998C>A (p.Ala333Asp)
c.1022C>A (p.Ala341Asp)
c.*3904C>A (n.*3904C>A)
c.1184C>A
c.674C>A (p.Ala225Asp)
c.1283C>A (p.Ala428Asp)
c.1307C>A (p.Ala436Asp)
c.1970C>A (n.1970C>A)
c.*1488C>A (n.*1488C>A)
c.*507C>A (n.*507C>A)
c.1241C>A (p.Ala414Asp)
c.1217C>A (p.Ala406Asp)
n.581C>A
n.6254C>A
c.745C>A
c.1220C>A (p.Ala407Asp)
c.1376C>A (p.Ala459Asp)
c.1427C>A (p.Ala476Asp)
c.*885C>A (n.*885C>A)
c.1404C>A (n.1404C>A)
c.1298C>A (p.Ala433Asp)
c.*141C>A (n.*141C>A)
c.1304C>A (p.Ala435Asp)
c.1280C>A (p.Ala427Asp)
c.1346C>A (p.Ala449Asp)
c.863C>A (p.Ala288Asp)
c.887C>A (p.Ala296Asp)
5g.162153247C>GCA362183754GABRG2c.1308C>G
c.1403C>G (p.Ala468Gly)
c.1366C>G
n.561C>G
c.998C>G (p.Ala333Gly)
c.1022C>G (p.Ala341Gly)
c.*3904C>G (n.*3904C>G)
c.1184C>G
c.674C>G (p.Ala225Gly)
c.1283C>G (p.Ala428Gly)
c.1307C>G (p.Ala436Gly)
c.1970C>G (n.1970C>G)
c.*1488C>G (n.*1488C>G)
c.*507C>G (n.*507C>G)
c.1241C>G (p.Ala414Gly)
c.1217C>G (p.Ala406Gly)
n.581C>G
n.6254C>G
c.745C>G
c.1220C>G (p.Ala407Gly)
c.1376C>G (p.Ala459Gly)
c.1427C>G (p.Ala476Gly)
c.*885C>G (n.*885C>G)
c.1404C>G (n.1404C>G)
c.1298C>G (p.Ala433Gly)
c.*141C>G (n.*141C>G)
c.1304C>G (p.Ala435Gly)
c.1280C>G (p.Ala427Gly)
c.1346C>G (p.Ala449Gly)
c.863C>G (p.Ala288Gly)
c.887C>G (p.Ala296Gly)
5g.162153247C>TCA362183756GABRG2c.1308C>T
c.1403C>T (p.Ala468Val)
c.1366C>T
n.561C>T
c.998C>T (p.Ala333Val)
c.1022C>T (p.Ala341Val)
c.*3904C>T (n.*3904C>T)
c.1184C>T
c.674C>T (p.Ala225Val)
c.1283C>T (p.Ala428Val)
c.1307C>T (p.Ala436Val)
c.1970C>T (n.1970C>T)
c.*1488C>T (n.*1488C>T)
c.*507C>T (n.*507C>T)
c.1241C>T (p.Ala414Val)
c.1217C>T (p.Ala406Val)
n.581C>T
n.6254C>T
c.745C>T
c.1220C>T (p.Ala407Val)
c.1376C>T (p.Ala459Val)
c.1427C>T (p.Ala476Val)
c.*885C>T (n.*885C>T)
c.1404C>T (n.1404C>T)
c.1298C>T (p.Ala433Val)
c.*141C>T (n.*141C>T)
c.1304C>T (p.Ala435Val)
c.1280C>T (p.Ala427Val)
c.1346C>T (p.Ala449Val)
c.863C>T (p.Ala288Val)
c.887C>T (p.Ala296Val)
5g.162153248T>ACA447691860GABRG2c.1309T>A
c.1404T>A (p.Ala468=)
c.1367T>A
n.562T>A
c.999T>A (p.Ala333=)
c.1023T>A (p.Ala341=)
c.*3905T>A (n.*3905T>A)
c.1185T>A
c.675T>A (p.Ala225=)
c.1284T>A (p.Ala428=)
c.1308T>A (p.Ala436=)
c.1971T>A (n.1971T>A)
c.*1489T>A (n.*1489T>A)
c.*508T>A (n.*508T>A)
c.1242T>A (p.Ala414=)
c.1218T>A (p.Ala406=)
n.582T>A
n.6255T>A
c.746T>A
c.1221T>A (p.Ala407=)
c.1377T>A (p.Ala459=)
c.1428T>A (p.Ala476=)
c.*886T>A (n.*886T>A)
c.1405T>A (n.1405T>A)
c.1299T>A (p.Ala433=)
c.*142T>A (n.*142T>A)
c.1305T>A (p.Ala435=)
c.1281T>A (p.Ala427=)
c.1347T>A (p.Ala449=)
c.864T>A (p.Ala288=)
c.888T>A (p.Ala296=)
5g.162153248T>CCA447691861GABRG2c.1309T>C
c.1404T>C (p.Ala468=)
c.1367T>C
n.562T>C
c.999T>C (p.Ala333=)
c.1023T>C (p.Ala341=)
c.*3905T>C (n.*3905T>C)
c.1185T>C
c.675T>C (p.Ala225=)
c.1284T>C (p.Ala428=)
c.1308T>C (p.Ala436=)
c.1971T>C (n.1971T>C)
c.*1489T>C (n.*1489T>C)
c.*508T>C (n.*508T>C)
c.1242T>C (p.Ala414=)
c.1218T>C (p.Ala406=)
n.582T>C
n.6255T>C
c.746T>C
c.1221T>C (p.Ala407=)
c.1377T>C (p.Ala459=)
c.1428T>C (p.Ala476=)
c.*886T>C (n.*886T>C)
c.1405T>C (n.1405T>C)
c.1299T>C (p.Ala433=)
c.*142T>C (n.*142T>C)
c.1305T>C (p.Ala435=)
c.1281T>C (p.Ala427=)
c.1347T>C (p.Ala449=)
c.864T>C (p.Ala288=)
c.888T>C (p.Ala296=)
5g.162153248T>GCA447691862GABRG2c.1309T>G
c.1404T>G (p.Ala468=)
c.1367T>G
n.562T>G
c.999T>G (p.Ala333=)
c.1023T>G (p.Ala341=)
c.*3905T>G (n.*3905T>G)
c.1185T>G
c.675T>G (p.Ala225=)
c.1284T>G (p.Ala428=)
c.1308T>G (p.Ala436=)
c.1971T>G (n.1971T>G)
c.*1489T>G (n.*1489T>G)
c.*508T>G (n.*508T>G)
c.1242T>G (p.Ala414=)
c.1218T>G (p.Ala406=)
n.582T>G
n.6255T>G
c.746T>G
c.1221T>G (p.Ala407=)
c.1377T>G (p.Ala459=)
c.1428T>G (p.Ala476=)
c.*886T>G (n.*886T>G)
c.1405T>G (n.1405T>G)
c.1299T>G (p.Ala433=)
c.*142T>G (n.*142T>G)
c.1305T>G (p.Ala435=)
c.1281T>G (p.Ala427=)
c.1347T>G (p.Ala449=)
c.864T>G (p.Ala288=)
c.888T>G (p.Ala296=)
5g.162153249T>ACA362183758GABRG2c.1310T>A
c.1405T>A (p.Trp469Arg)
c.1368T>A
n.563T>A
c.1000T>A (p.Trp334Arg)
c.1024T>A (p.Trp342Arg)
c.*3906T>A (n.*3906T>A)
c.1186T>A
c.676T>A (p.Trp226Arg)
c.1285T>A (p.Trp429Arg)
c.1309T>A (p.Trp437Arg)
c.1972T>A (n.1972T>A)
c.*1490T>A (n.*1490T>A)
c.*509T>A (n.*509T>A)
c.1243T>A (p.Trp415Arg)
c.1219T>A (p.Trp407Arg)
n.583T>A
n.6256T>A
c.747T>A
c.1222T>A (p.Trp408Arg)
c.1378T>A (p.Trp460Arg)
c.1429T>A (p.Trp477Arg)
c.*887T>A (n.*887T>A)
c.1406T>A (n.1406T>A)
c.1300T>A (p.Trp434Arg)
c.*143T>A (n.*143T>A)
c.1306T>A (p.Trp436Arg)
c.1282T>A (p.Trp428Arg)
c.1348T>A (p.Trp450Arg)
c.865T>A (p.Trp289Arg)
c.889T>A (p.Trp297Arg)
5g.162153249T>CCA362183759GABRG2c.1310T>C
c.1405T>C (p.Trp469Arg)
c.1368T>C
n.563T>C
c.1000T>C (p.Trp334Arg)
c.1024T>C (p.Trp342Arg)
c.*3906T>C (n.*3906T>C)
c.1186T>C
c.676T>C (p.Trp226Arg)
c.1285T>C (p.Trp429Arg)
c.1309T>C (p.Trp437Arg)
c.1972T>C (n.1972T>C)
c.*1490T>C (n.*1490T>C)
c.*509T>C (n.*509T>C)
c.1243T>C (p.Trp415Arg)
c.1219T>C (p.Trp407Arg)
n.583T>C
n.6256T>C
c.747T>C
c.1222T>C (p.Trp408Arg)
c.1378T>C (p.Trp460Arg)
c.1429T>C (p.Trp477Arg)
c.*887T>C (n.*887T>C)
c.1406T>C (n.1406T>C)
c.1300T>C (p.Trp434Arg)
c.*143T>C (n.*143T>C)
c.1306T>C (p.Trp436Arg)
c.1282T>C (p.Trp428Arg)
c.1348T>C (p.Trp450Arg)
c.865T>C (p.Trp289Arg)
c.889T>C (p.Trp297Arg)
5g.162153249T>GCA362183762GABRG2c.1310T>G
c.1405T>G (p.Trp469Gly)
c.1368T>G
n.563T>G
c.1000T>G (p.Trp334Gly)
c.1024T>G (p.Trp342Gly)
c.*3906T>G (n.*3906T>G)
c.1186T>G
c.676T>G (p.Trp226Gly)
c.1285T>G (p.Trp429Gly)
c.1309T>G (p.Trp437Gly)
c.1972T>G (n.1972T>G)
c.*1490T>G (n.*1490T>G)
c.*509T>G (n.*509T>G)
c.1243T>G (p.Trp415Gly)
c.1219T>G (p.Trp407Gly)
n.583T>G
n.6256T>G
c.747T>G
c.1222T>G (p.Trp408Gly)
c.1378T>G (p.Trp460Gly)
c.1429T>G (p.Trp477Gly)
c.*887T>G (n.*887T>G)
c.1406T>G (n.1406T>G)
c.1300T>G (p.Trp434Gly)
c.*143T>G (n.*143T>G)
c.1306T>G (p.Trp436Gly)
c.1282T>G (p.Trp428Gly)
c.1348T>G (p.Trp450Gly)
c.865T>G (p.Trp289Gly)
c.889T>G (p.Trp297Gly)
5g.162153250G>ACA362183763GABRG2c.1311G>A
c.1406G>A (p.Trp469Ter)
c.1369G>A
n.564G>A
c.1001G>A (p.Trp334Ter)
c.1025G>A (p.Trp342Ter)
c.*3907G>A (n.*3907G>A)
c.1187G>A
c.677G>A (p.Trp226Ter)
c.1286G>A (p.Trp429Ter)
c.1310G>A (p.Trp437Ter)
c.1973G>A (n.1973G>A)
c.*1491G>A (n.*1491G>A)
c.*510G>A (n.*510G>A)
c.1244G>A (p.Trp415Ter)
c.1220G>A (p.Trp407Ter)
n.584G>A
n.6257G>A
c.748G>A
c.1223G>A (p.Trp408Ter)
c.1379G>A (p.Trp460Ter)
c.1430G>A (p.Trp477Ter)
c.*888G>A (n.*888G>A)
c.1407G>A (n.1407G>A)
c.1301G>A (p.Trp434Ter)
c.*144G>A (n.*144G>A)
c.1307G>A (p.Trp436Ter)
c.1283G>A (p.Trp428Ter)
c.1349G>A (p.Trp450Ter)
c.866G>A (p.Trp289Ter)
c.890G>A (p.Trp297Ter)
 ClinVar
5g.162153250G>CCA362183764GABRG2c.1311G>C
c.1406G>C (p.Trp469Ser)
c.1369G>C
n.564G>C
c.1001G>C (p.Trp334Ser)
c.1025G>C (p.Trp342Ser)
c.*3907G>C (n.*3907G>C)
c.1187G>C
c.677G>C (p.Trp226Ser)
c.1286G>C (p.Trp429Ser)
c.1310G>C (p.Trp437Ser)
c.1973G>C (n.1973G>C)
c.*1491G>C (n.*1491G>C)
c.*510G>C (n.*510G>C)
c.1244G>C (p.Trp415Ser)
c.1220G>C (p.Trp407Ser)
n.584G>C
n.6257G>C
c.748G>C
c.1223G>C (p.Trp408Ser)
c.1379G>C (p.Trp460Ser)
c.1430G>C (p.Trp477Ser)
c.*888G>C (n.*888G>C)
c.1407G>C (n.1407G>C)
c.1301G>C (p.Trp434Ser)
c.*144G>C (n.*144G>C)
c.1307G>C (p.Trp436Ser)
c.1283G>C (p.Trp428Ser)
c.1349G>C (p.Trp450Ser)
c.866G>C (p.Trp289Ser)
c.890G>C (p.Trp297Ser)
5g.162153250G>TCA362183765GABRG2c.1311G>T
c.1406G>T (p.Trp469Leu)
c.1369G>T
n.564G>T
c.1001G>T (p.Trp334Leu)
c.1025G>T (p.Trp342Leu)
c.*3907G>T (n.*3907G>T)
c.1187G>T
c.677G>T (p.Trp226Leu)
c.1286G>T (p.Trp429Leu)
c.1310G>T (p.Trp437Leu)
c.1973G>T (n.1973G>T)
c.*1491G>T (n.*1491G>T)
c.*510G>T (n.*510G>T)
c.1244G>T (p.Trp415Leu)
c.1220G>T (p.Trp407Leu)
n.584G>T
n.6257G>T
c.748G>T
c.1223G>T (p.Trp408Leu)
c.1379G>T (p.Trp460Leu)
c.1430G>T (p.Trp477Leu)
c.*888G>T (n.*888G>T)
c.1407G>T (n.1407G>T)
c.1301G>T (p.Trp434Leu)
c.*144G>T (n.*144G>T)
c.1307G>T (p.Trp436Leu)
c.1283G>T (p.Trp428Leu)
c.1349G>T (p.Trp450Leu)
c.866G>T (p.Trp289Leu)
c.890G>T (p.Trp297Leu)
5g.162153251G>ACA362183767GABRG2c.1312G>A
c.1407G>A (p.Trp469Ter)
c.1370G>A
n.565G>A
c.1002G>A (p.Trp334Ter)
c.1026G>A (p.Trp342Ter)
c.*3908G>A (n.*3908G>A)
c.1188G>A
c.678G>A (p.Trp226Ter)
c.1287G>A (p.Trp429Ter)
c.1311G>A (p.Trp437Ter)
c.1974G>A (n.1974G>A)
c.*1492G>A (n.*1492G>A)
c.*511G>A (n.*511G>A)
c.1245G>A (p.Trp415Ter)
c.1221G>A (p.Trp407Ter)
n.585G>A
n.6258G>A
c.749G>A
c.1224G>A (p.Trp408Ter)
c.1380G>A (p.Trp460Ter)
c.1431G>A (p.Trp477Ter)
c.*889G>A (n.*889G>A)
c.1408G>A (n.1408G>A)
c.1302G>A (p.Trp434Ter)
c.*145G>A (n.*145G>A)
c.1308G>A (p.Trp436Ter)
c.1284G>A (p.Trp428Ter)
c.1350G>A (p.Trp450Ter)
c.867G>A (p.Trp289Ter)
c.891G>A (p.Trp297Ter)
5g.162153251G>CCA362183768GABRG2c.1312G>C
c.1407G>C (p.Trp469Cys)
c.1370G>C
n.565G>C
c.1002G>C (p.Trp334Cys)
c.1026G>C (p.Trp342Cys)
c.*3908G>C (n.*3908G>C)
c.1188G>C
c.678G>C (p.Trp226Cys)
c.1287G>C (p.Trp429Cys)
c.1311G>C (p.Trp437Cys)
c.1974G>C (n.1974G>C)
c.*1492G>C (n.*1492G>C)
c.*511G>C (n.*511G>C)
c.1245G>C (p.Trp415Cys)
c.1221G>C (p.Trp407Cys)
n.585G>C
n.6258G>C
c.749G>C
c.1224G>C (p.Trp408Cys)
c.1380G>C (p.Trp460Cys)
c.1431G>C (p.Trp477Cys)
c.*889G>C (n.*889G>C)
c.1408G>C (n.1408G>C)
c.1302G>C (p.Trp434Cys)
c.*145G>C (n.*145G>C)
c.1308G>C (p.Trp436Cys)
c.1284G>C (p.Trp428Cys)
c.1350G>C (p.Trp450Cys)
c.867G>C (p.Trp289Cys)
c.891G>C (p.Trp297Cys)
5g.162153251G>TCA362183770GABRG2c.1312G>T
c.1407G>T (p.Trp469Cys)
c.1370G>T
n.565G>T
c.1002G>T (p.Trp334Cys)
c.1026G>T (p.Trp342Cys)
c.*3908G>T (n.*3908G>T)
c.1188G>T
c.678G>T (p.Trp226Cys)
c.1287G>T (p.Trp429Cys)
c.1311G>T (p.Trp437Cys)
c.1974G>T (n.1974G>T)
c.*1492G>T (n.*1492G>T)
c.*511G>T (n.*511G>T)
c.1245G>T (p.Trp415Cys)
c.1221G>T (p.Trp407Cys)
n.585G>T
n.6258G>T
c.749G>T
c.1224G>T (p.Trp408Cys)
c.1380G>T (p.Trp460Cys)
c.1431G>T (p.Trp477Cys)
c.*889G>T (n.*889G>T)
c.1408G>T (n.1408G>T)
c.1302G>T (p.Trp434Cys)
c.*145G>T (n.*145G>T)
c.1308G>T (p.Trp436Cys)
c.1284G>T (p.Trp428Cys)
c.1350G>T (p.Trp450Cys)
c.867G>T (p.Trp289Cys)
c.891G>T (p.Trp297Cys)
5g.162153252A>CCA447691874GABRG2c.1313A>C
c.1408A>C (p.Arg470=)
c.1371A>C
n.566A>C
c.1003A>C (p.Arg335=)
c.1027A>C (p.Arg343=)
c.*3909A>C (n.*3909A>C)
c.1189A>C
c.679A>C (p.Arg227=)
c.1288A>C (p.Arg430=)
c.1312A>C (p.Arg438=)
c.1975A>C (n.1975A>C)
c.*1493A>C (n.*1493A>C)
c.*512A>C (n.*512A>C)
c.1246A>C (p.Arg416=)
c.1222A>C (p.Arg408=)
n.586A>C
n.6259A>C
c.750A>C
c.1225A>C (p.Arg409=)
c.1381A>C (p.Arg461=)
c.1432A>C (p.Arg478=)
c.*890A>C (n.*890A>C)
c.1409A>C (n.1409A>C)
c.1303A>C (p.Arg435=)
c.*146A>C (n.*146A>C)
c.1309A>C (p.Arg437=)
c.1285A>C (p.Arg429=)
c.1351A>C (p.Arg451=)
c.868A>C (p.Arg290=)
c.892A>C (p.Arg298=)
5g.162153252A>GCA362183772GABRG2c.1313A>G
c.1408A>G (p.Arg470Gly)
c.1371A>G
n.566A>G
c.1003A>G (p.Arg335Gly)
c.1027A>G (p.Arg343Gly)
c.*3909A>G (n.*3909A>G)
c.1189A>G
c.679A>G (p.Arg227Gly)
c.1288A>G (p.Arg430Gly)
c.1312A>G (p.Arg438Gly)
c.1975A>G (n.1975A>G)
c.*1493A>G (n.*1493A>G)
c.*512A>G (n.*512A>G)
c.1246A>G (p.Arg416Gly)
c.1222A>G (p.Arg408Gly)
n.586A>G
n.6259A>G
c.750A>G
c.1225A>G (p.Arg409Gly)
c.1381A>G (p.Arg461Gly)
c.1432A>G (p.Arg478Gly)
c.*890A>G (n.*890A>G)
c.1409A>G (n.1409A>G)
c.1303A>G (p.Arg435Gly)
c.*146A>G (n.*146A>G)
c.1309A>G (p.Arg437Gly)
c.1285A>G (p.Arg429Gly)
c.1351A>G (p.Arg451Gly)
c.868A>G (p.Arg290Gly)
c.892A>G (p.Arg298Gly)
5g.162153252A>TCA362183773GABRG2c.1313A>T
c.1408A>T (p.Arg470Ter)
c.1371A>T
n.566A>T
c.1003A>T (p.Arg335Ter)
c.1027A>T (p.Arg343Ter)
c.*3909A>T (n.*3909A>T)
c.1189A>T
c.679A>T (p.Arg227Ter)
c.1288A>T (p.Arg430Ter)
c.1312A>T (p.Arg438Ter)
c.1975A>T (n.1975A>T)
c.*1493A>T (n.*1493A>T)
c.*512A>T (n.*512A>T)
c.1246A>T (p.Arg416Ter)
c.1222A>T (p.Arg408Ter)
n.586A>T
n.6259A>T
c.750A>T
c.1225A>T (p.Arg409Ter)
c.1381A>T (p.Arg461Ter)
c.1432A>T (p.Arg478Ter)
c.*890A>T (n.*890A>T)
c.1409A>T (n.1409A>T)
c.1303A>T (p.Arg435Ter)
c.*146A>T (n.*146A>T)
c.1309A>T (p.Arg437Ter)
c.1285A>T (p.Arg429Ter)
c.1351A>T (p.Arg451Ter)
c.868A>T (p.Arg290Ter)
c.892A>T (p.Arg298Ter)
5g.162153253G>ACA314750GABRG2c.1314G>A
c.1409G>A (p.Arg470Lys)
c.1372G>A
n.567G>A
c.1004G>A (p.Arg335Lys)
c.1028G>A (p.Arg343Lys)
c.*3910G>A (n.*3910G>A)
c.1190G>A
c.680G>A (p.Arg227Lys)
c.1289G>A (p.Arg430Lys)
c.1313G>A (p.Arg438Lys)
c.1976G>A (n.1976G>A)
c.*1494G>A (n.*1494G>A)
c.*513G>A (n.*513G>A)
c.1247G>A (p.Arg416Lys)
c.1223G>A (p.Arg408Lys)
n.587G>A
n.6260G>A
c.751G>A
c.1226G>A (p.Arg409Lys)
c.1382G>A (p.Arg461Lys)
c.1433G>A (p.Arg478Lys)
c.*891G>A (n.*891G>A)
c.1410G>A (n.1410G>A)
c.1304G>A (p.Arg435Lys)
c.*147G>A (n.*147G>A)
c.1310G>A (p.Arg437Lys)
c.1286G>A (p.Arg429Lys)
c.1352G>A (p.Arg451Lys)
c.869G>A (p.Arg290Lys)
c.893G>A (p.Arg298Lys)
 ClinVar dbSNP
5g.162153253G>CCA362183776GABRG2c.1314G>C
c.1409G>C (p.Arg470Thr)
c.1372G>C
n.567G>C
c.1004G>C (p.Arg335Thr)
c.1028G>C (p.Arg343Thr)
c.*3910G>C (n.*3910G>C)
c.1190G>C
c.680G>C (p.Arg227Thr)
c.1289G>C (p.Arg430Thr)
c.1313G>C (p.Arg438Thr)
c.1976G>C (n.1976G>C)
c.*1494G>C (n.*1494G>C)
c.*513G>C (n.*513G>C)
c.1247G>C (p.Arg416Thr)
c.1223G>C (p.Arg408Thr)
n.587G>C
n.6260G>C
c.751G>C
c.1226G>C (p.Arg409Thr)
c.1382G>C (p.Arg461Thr)
c.1433G>C (p.Arg478Thr)
c.*891G>C (n.*891G>C)
c.1410G>C (n.1410G>C)
c.1304G>C (p.Arg435Thr)
c.*147G>C (n.*147G>C)
c.1310G>C (p.Arg437Thr)
c.1286G>C (p.Arg429Thr)
c.1352G>C (p.Arg451Thr)
c.869G>C (p.Arg290Thr)
c.893G>C (p.Arg298Thr)
5g.162153253G=CA1596382141GABRG2c.1314G=
c.1409G= (p.Arg470=)
c.1372G=
n.567G=
c.1004G= (p.Arg335=)
c.1028G= (p.Arg343=)
c.*3910G= (n.*3910G=)
c.1190G=
c.680G= (p.Arg227=)
c.1289G= (p.Arg430=)
c.1313G= (p.Arg438=)
c.1976G= (n.1976G=)
c.*1494G= (n.*1494G=)
c.*513G= (n.*513G=)
c.1247G= (p.Arg416=)
c.1223G= (p.Arg408=)
n.587G=
n.6260G=
c.751G=
c.1226G= (p.Arg409=)
c.1382G= (p.Arg461=)
c.1433G= (p.Arg478=)
c.*891G= (n.*891G=)
c.1410G= (n.1410G=)
c.1304G= (p.Arg435=)
c.*147G= (n.*147G=)
c.1310G= (p.Arg437=)
c.1286G= (p.Arg429=)
c.1352G= (p.Arg451=)
c.869G= (p.Arg290=)
c.893G= (p.Arg298=)
5g.162153253G>TCA362183778GABRG2c.1314G>T
c.1409G>T (p.Arg470Ile)
c.1372G>T
n.567G>T
c.1004G>T (p.Arg335Ile)
c.1028G>T (p.Arg343Ile)
c.*3910G>T (n.*3910G>T)
c.1190G>T
c.680G>T (p.Arg227Ile)
c.1289G>T (p.Arg430Ile)
c.1313G>T (p.Arg438Ile)
c.1976G>T (n.1976G>T)
c.*1494G>T (n.*1494G>T)
c.*513G>T (n.*513G>T)
c.1247G>T (p.Arg416Ile)
c.1223G>T (p.Arg408Ile)
n.587G>T
n.6260G>T
c.751G>T
c.1226G>T (p.Arg409Ile)
c.1382G>T (p.Arg461Ile)
c.1433G>T (p.Arg478Ile)
c.*891G>T (n.*891G>T)
c.1410G>T (n.1410G>T)
c.1304G>T (p.Arg435Ile)
c.*147G>T (n.*147G>T)
c.1310G>T (p.Arg437Ile)
c.1286G>T (p.Arg429Ile)
c.1352G>T (p.Arg451Ile)
c.869G>T (p.Arg290Ile)
c.893G>T (p.Arg298Ile)
5g.162153254A>CCA362183779GABRG2c.1315A>C
c.1410A>C (p.Arg470Ser)
c.1373A>C
n.568A>C
c.1005A>C (p.Arg335Ser)
c.1029A>C (p.Arg343Ser)
c.*3911A>C (n.*3911A>C)
c.1191A>C
c.681A>C (p.Arg227Ser)
c.1290A>C (p.Arg430Ser)
c.1314A>C (p.Arg438Ser)
c.1977A>C (n.1977A>C)
c.*1495A>C (n.*1495A>C)
c.*514A>C (n.*514A>C)
c.1248A>C (p.Arg416Ser)
c.1224A>C (p.Arg408Ser)
n.588A>C
n.6261A>C
c.752A>C
c.1227A>C (p.Arg409Ser)
c.1383A>C (p.Arg461Ser)
c.1434A>C (p.Arg478Ser)
c.*892A>C (n.*892A>C)
c.1411A>C (n.1411A>C)
c.1305A>C (p.Arg435Ser)
c.*148A>C (n.*148A>C)
c.1311A>C (p.Arg437Ser)
c.1287A>C (p.Arg429Ser)
c.1353A>C (p.Arg451Ser)
c.870A>C (p.Arg290Ser)
c.894A>C (p.Arg298Ser)
5g.162153254A>GCA447691884GABRG2c.1315A>G
c.1410A>G (p.Arg470=)
c.1373A>G
n.568A>G
c.1005A>G (p.Arg335=)
c.1029A>G (p.Arg343=)
c.*3911A>G (n.*3911A>G)
c.1191A>G
c.681A>G (p.Arg227=)
c.1290A>G (p.Arg430=)
c.1314A>G (p.Arg438=)
c.1977A>G (n.1977A>G)
c.*1495A>G (n.*1495A>G)
c.*514A>G (n.*514A>G)
c.1248A>G (p.Arg416=)
c.1224A>G (p.Arg408=)
n.588A>G
n.6261A>G
c.752A>G
c.1227A>G (p.Arg409=)
c.1383A>G (p.Arg461=)
c.1434A>G (p.Arg478=)
c.*892A>G (n.*892A>G)
c.1411A>G (n.1411A>G)
c.1305A>G (p.Arg435=)
c.*148A>G (n.*148A>G)
c.1311A>G (p.Arg437=)
c.1287A>G (p.Arg429=)
c.1353A>G (p.Arg451=)
c.870A>G (p.Arg290=)
c.894A>G (p.Arg298=)
 ClinVar gnomAD v4
5g.162153254A>TCA362183781GABRG2c.1315A>T
c.1410A>T (p.Arg470Ser)
c.1373A>T
n.568A>T
c.1005A>T (p.Arg335Ser)
c.1029A>T (p.Arg343Ser)
c.*3911A>T (n.*3911A>T)
c.1191A>T
c.681A>T (p.Arg227Ser)
c.1290A>T (p.Arg430Ser)
c.1314A>T (p.Arg438Ser)
c.1977A>T (n.1977A>T)
c.*1495A>T (n.*1495A>T)
c.*514A>T (n.*514A>T)
c.1248A>T (p.Arg416Ser)
c.1224A>T (p.Arg408Ser)
n.588A>T
n.6261A>T
c.752A>T
c.1227A>T (p.Arg409Ser)
c.1383A>T (p.Arg461Ser)
c.1434A>T (p.Arg478Ser)
c.*892A>T (n.*892A>T)
c.1411A>T (n.1411A>T)
c.1305A>T (p.Arg435Ser)
c.*148A>T (n.*148A>T)
c.1311A>T (p.Arg437Ser)
c.1287A>T (p.Arg429Ser)
c.1353A>T (p.Arg451Ser)
c.870A>T (p.Arg290Ser)
c.894A>T (p.Arg298Ser)
5g.162153255C>ACA362183783GABRG2c.1316C>A
c.1411C>A (p.His471Asn)
c.1374C>A
n.569C>A
c.1006C>A (p.His336Asn)
c.1030C>A (p.His344Asn)
c.*3912C>A (n.*3912C>A)
c.1192C>A
c.682C>A (p.His228Asn)
c.1291C>A (p.His431Asn)
c.1315C>A (p.His439Asn)
c.1978C>A (n.1978C>A)
c.*1496C>A (n.*1496C>A)
c.*515C>A (n.*515C>A)
c.1249C>A (p.His417Asn)
c.1225C>A (p.His409Asn)
n.589C>A
n.6262C>A
c.753C>A
c.1228C>A (p.His410Asn)
c.1384C>A (p.His462Asn)
c.1435C>A (p.His479Asn)
c.*893C>A (n.*893C>A)
c.1412C>A (n.1412C>A)
c.1306C>A (p.His436Asn)
c.*149C>A (n.*149C>A)
c.1312C>A (p.His438Asn)
c.1288C>A (p.His430Asn)
c.1354C>A (p.His452Asn)
c.871C>A (p.His291Asn)
c.895C>A (p.His299Asn)
5g.162153255C>GCA362183784GABRG2c.1316C>G
c.1411C>G (p.His471Asp)
c.1374C>G
n.569C>G
c.1006C>G (p.His336Asp)
c.1030C>G (p.His344Asp)
c.*3912C>G (n.*3912C>G)
c.1192C>G
c.682C>G (p.His228Asp)
c.1291C>G (p.His431Asp)
c.1315C>G (p.His439Asp)
c.1978C>G (n.1978C>G)
c.*1496C>G (n.*1496C>G)
c.*515C>G (n.*515C>G)
c.1249C>G (p.His417Asp)
c.1225C>G (p.His409Asp)
n.589C>G
n.6262C>G
c.753C>G
c.1228C>G (p.His410Asp)
c.1384C>G (p.His462Asp)
c.1435C>G (p.His479Asp)
c.*893C>G (n.*893C>G)
c.1412C>G (n.1412C>G)
c.1306C>G (p.His436Asp)
c.*149C>G (n.*149C>G)
c.1312C>G (p.His438Asp)
c.1288C>G (p.His430Asp)
c.1354C>G (p.His452Asp)
c.871C>G (p.His291Asp)
c.895C>G (p.His299Asp)
5g.162153255C>TCA362183786GABRG2c.1316C>T
c.1411C>T (p.His471Tyr)
c.1374C>T
n.569C>T
c.1006C>T (p.His336Tyr)
c.1030C>T (p.His344Tyr)
c.*3912C>T (n.*3912C>T)
c.1192C>T
c.682C>T (p.His228Tyr)
c.1291C>T (p.His431Tyr)
c.1315C>T (p.His439Tyr)
c.1978C>T (n.1978C>T)
c.*1496C>T (n.*1496C>T)
c.*515C>T (n.*515C>T)
c.1249C>T (p.His417Tyr)
c.1225C>T (p.His409Tyr)
n.589C>T
n.6262C>T
c.753C>T
c.1228C>T (p.His410Tyr)
c.1384C>T (p.His462Tyr)
c.1435C>T (p.His479Tyr)
c.*893C>T (n.*893C>T)
c.1412C>T (n.1412C>T)
c.1306C>T (p.His436Tyr)
c.*149C>T (n.*149C>T)
c.1312C>T (p.His438Tyr)
c.1288C>T (p.His430Tyr)
c.1354C>T (p.His452Tyr)
c.871C>T (p.His291Tyr)
c.895C>T (p.His299Tyr)
 gnomAD v4
5g.162153256A=CA1596382145GABRG2c.1317A=
c.1412A= (p.His471=)
c.1375A=
n.570A=
c.1007A= (p.His336=)
c.1031A= (p.His344=)
c.*3913A= (n.*3913A=)
c.1193A=
c.683A= (p.His228=)
c.1292A= (p.His431=)
c.1316A= (p.His439=)
c.1979A= (n.1979A=)
c.*1497A= (n.*1497A=)
c.*516A= (n.*516A=)
c.1250A= (p.His417=)
c.1226A= (p.His409=)
n.590A=
n.6263A=
c.754A=
c.1229A= (p.His410=)
c.1385A= (p.His462=)
c.1436A= (p.His479=)
c.*894A= (n.*894A=)
c.1413A= (n.1413A=)
c.1307A= (p.His436=)
c.*150A= (n.*150A=)
c.1313A= (p.His438=)
c.1289A= (p.His430=)
c.1355A= (p.His452=)
c.872A= (p.His291=)
c.896A= (p.His299=)
5g.162153256A>CCA362183788GABRG2c.1317A>C
c.1412A>C (p.His471Pro)
c.1375A>C
n.570A>C
c.1007A>C (p.His336Pro)
c.1031A>C (p.His344Pro)
c.*3913A>C (n.*3913A>C)
c.1193A>C
c.683A>C (p.His228Pro)
c.1292A>C (p.His431Pro)
c.1316A>C (p.His439Pro)
c.1979A>C (n.1979A>C)
c.*1497A>C (n.*1497A>C)
c.*516A>C (n.*516A>C)
c.1250A>C (p.His417Pro)
c.1226A>C (p.His409Pro)
n.590A>C
n.6263A>C
c.754A>C
c.1229A>C (p.His410Pro)
c.1385A>C (p.His462Pro)
c.1436A>C (p.His479Pro)
c.*894A>C (n.*894A>C)
c.1413A>C (n.1413A>C)
c.1307A>C (p.His436Pro)
c.*150A>C (n.*150A>C)
c.1313A>C (p.His438Pro)
c.1289A>C (p.His430Pro)
c.1355A>C (p.His452Pro)
c.872A>C (p.His291Pro)
c.896A>C (p.His299Pro)
5g.162153256A>GCA362183789GABRG2c.1317A>G
c.1412A>G (p.His471Arg)
c.1375A>G
n.570A>G
c.1007A>G (p.His336Arg)
c.1031A>G (p.His344Arg)
c.*3913A>G (n.*3913A>G)
c.1193A>G
c.683A>G (p.His228Arg)
c.1292A>G (p.His431Arg)
c.1316A>G (p.His439Arg)
c.1979A>G (n.1979A>G)
c.*1497A>G (n.*1497A>G)
c.*516A>G (n.*516A>G)
c.1250A>G (p.His417Arg)
c.1226A>G (p.His409Arg)
n.590A>G
n.6263A>G
c.754A>G
c.1229A>G (p.His410Arg)
c.1385A>G (p.His462Arg)
c.1436A>G (p.His479Arg)
c.*894A>G (n.*894A>G)
c.1413A>G (n.1413A>G)
c.1307A>G (p.His436Arg)
c.*150A>G (n.*150A>G)
c.1313A>G (p.His438Arg)
c.1289A>G (p.His430Arg)
c.1355A>G (p.His452Arg)
c.872A>G (p.His291Arg)
c.896A>G (p.His299Arg)
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.162153256A>TCA3544990GABRG2c.1317A>T
c.1412A>T (p.His471Leu)
c.1375A>T
n.570A>T
c.1007A>T (p.His336Leu)
c.1031A>T (p.His344Leu)
c.*3913A>T (n.*3913A>T)
c.1193A>T
c.683A>T (p.His228Leu)
c.1292A>T (p.His431Leu)
c.1316A>T (p.His439Leu)
c.1979A>T (n.1979A>T)
c.*1497A>T (n.*1497A>T)
c.*516A>T (n.*516A>T)
c.1250A>T (p.His417Leu)
c.1226A>T (p.His409Leu)
n.590A>T
n.6263A>T
c.754A>T
c.1229A>T (p.His410Leu)
c.1385A>T (p.His462Leu)
c.1436A>T (p.His479Leu)
c.*894A>T (n.*894A>T)
c.1413A>T (n.1413A>T)
c.1307A>T (p.His436Leu)
c.*150A>T (n.*150A>T)
c.1313A>T (p.His438Leu)
c.1289A>T (p.His430Leu)
c.1355A>T (p.His452Leu)
c.872A>T (p.His291Leu)
c.896A>T (p.His299Leu)
 dbSNP ExAC gnomAD v2
5g.162153257T>ACA362183793GABRG2c.1318T>A
c.1413T>A (p.His471Gln)
c.1376T>A
n.571T>A
c.1008T>A (p.His336Gln)
c.1032T>A (p.His344Gln)
c.*3914T>A (n.*3914T>A)
c.1194T>A
c.684T>A (p.His228Gln)
c.1293T>A (p.His431Gln)
c.1317T>A (p.His439Gln)
c.1980T>A (n.1980T>A)
c.*1498T>A (n.*1498T>A)
c.*517T>A (n.*517T>A)
c.1251T>A (p.His417Gln)
c.1227T>A (p.His409Gln)
n.591T>A
n.6264T>A
c.755T>A
c.1230T>A (p.His410Gln)
c.1386T>A (p.His462Gln)
c.1437T>A (p.His479Gln)
c.*895T>A (n.*895T>A)
c.1414T>A (n.1414T>A)
c.1308T>A (p.His436Gln)
c.*151T>A (n.*151T>A)
c.1314T>A (p.His438Gln)
c.1290T>A (p.His430Gln)
c.1356T>A (p.His452Gln)
c.873T>A (p.His291Gln)
c.897T>A (p.His299Gln)
5g.162153257T>CCA447691893GABRG2c.1318T>C
c.1413T>C (p.His471=)
c.1376T>C
n.571T>C
c.1008T>C (p.His336=)
c.1032T>C (p.His344=)
c.*3914T>C (n.*3914T>C)
c.1194T>C
c.684T>C (p.His228=)
c.1293T>C (p.His431=)
c.1317T>C (p.His439=)
c.1980T>C (n.1980T>C)
c.*1498T>C (n.*1498T>C)
c.*517T>C (n.*517T>C)
c.1251T>C (p.His417=)
c.1227T>C (p.His409=)
n.591T>C
n.6264T>C
c.755T>C
c.1230T>C (p.His410=)
c.1386T>C (p.His462=)
c.1437T>C (p.His479=)
c.*895T>C (n.*895T>C)
c.1414T>C (n.1414T>C)
c.1308T>C (p.His436=)
c.*151T>C (n.*151T>C)
c.1314T>C (p.His438=)
c.1290T>C (p.His430=)
c.1356T>C (p.His452=)
c.873T>C (p.His291=)
c.897T>C (p.His299=)
5g.162153257T>GCA362183794GABRG2c.1318T>G
c.1413T>G (p.His471Gln)
c.1376T>G
n.571T>G
c.1008T>G (p.His336Gln)
c.1032T>G (p.His344Gln)
c.*3914T>G (n.*3914T>G)
c.1194T>G
c.684T>G (p.His228Gln)
c.1293T>G (p.His431Gln)
c.1317T>G (p.His439Gln)
c.1980T>G (n.1980T>G)
c.*1498T>G (n.*1498T>G)
c.*517T>G (n.*517T>G)
c.1251T>G (p.His417Gln)
c.1227T>G (p.His409Gln)
n.591T>G
n.6264T>G
c.755T>G
c.1230T>G (p.His410Gln)
c.1386T>G (p.His462Gln)
c.1437T>G (p.His479Gln)
c.*895T>G (n.*895T>G)
c.1414T>G (n.1414T>G)
c.1308T>G (p.His436Gln)
c.*151T>G (n.*151T>G)
c.1314T>G (p.His438Gln)
c.1290T>G (p.His430Gln)
c.1356T>G (p.His452Gln)
c.873T>G (p.His291Gln)
c.897T>G (p.His299Gln)
5g.162153258G>ACA362183799GABRG2c.1319G>A
c.1414G>A (p.Gly472Arg)
c.1377G>A
n.572G>A
c.1009G>A (p.Gly337Arg)
c.1033G>A (p.Gly345Arg)
c.*3915G>A (n.*3915G>A)
c.1195G>A
c.685G>A (p.Gly229Arg)
c.1294G>A (p.Gly432Arg)
c.1318G>A (p.Gly440Arg)
c.1981G>A (n.1981G>A)
c.*1499G>A (n.*1499G>A)
c.*518G>A (n.*518G>A)
c.1252G>A (p.Gly418Arg)
c.1228G>A (p.Gly410Arg)
n.592G>A
n.6265G>A
c.756G>A
c.1231G>A (p.Gly411Arg)
c.1387G>A (p.Gly463Arg)
c.1438G>A (p.Gly480Arg)
c.*896G>A (n.*896G>A)
c.1415G>A (n.1415G>A)
c.1309G>A (p.Gly437Arg)
c.*152G>A (n.*152G>A)
c.1315G>A (p.Gly439Arg)
c.1291G>A (p.Gly431Arg)
c.1357G>A (p.Gly453Arg)
c.874G>A (p.Gly292Arg)
c.898G>A (p.Gly300Arg)
 ClinVar
5g.162153258G>CCA362183795GABRG2c.1319G>C
c.1414G>C (p.Gly472Arg)
c.1377G>C
n.572G>C
c.1009G>C (p.Gly337Arg)
c.1033G>C (p.Gly345Arg)
c.*3915G>C (n.*3915G>C)
c.1195G>C
c.685G>C (p.Gly229Arg)
c.1294G>C (p.Gly432Arg)
c.1318G>C (p.Gly440Arg)
c.1981G>C (n.1981G>C)
c.*1499G>C (n.*1499G>C)
c.*518G>C (n.*518G>C)
c.1252G>C (p.Gly418Arg)
c.1228G>C (p.Gly410Arg)
n.592G>C
n.6265G>C
c.756G>C
c.1231G>C (p.Gly411Arg)
c.1387G>C (p.Gly463Arg)
c.1438G>C (p.Gly480Arg)
c.*896G>C (n.*896G>C)
c.1415G>C (n.1415G>C)
c.1309G>C (p.Gly437Arg)
c.*152G>C (n.*152G>C)
c.1315G>C (p.Gly439Arg)
c.1291G>C (p.Gly431Arg)
c.1357G>C (p.Gly453Arg)
c.874G>C (p.Gly292Arg)
c.898G>C (p.Gly300Arg)
5g.162153258G>TCA362183797GABRG2c.1319G>T
c.1414G>T (p.Gly472Trp)
c.1377G>T
n.572G>T
c.1009G>T (p.Gly337Trp)
c.1033G>T (p.Gly345Trp)
c.*3915G>T (n.*3915G>T)
c.1195G>T
c.685G>T (p.Gly229Trp)
c.1294G>T (p.Gly432Trp)
c.1318G>T (p.Gly440Trp)
c.1981G>T (n.1981G>T)
c.*1499G>T (n.*1499G>T)
c.*518G>T (n.*518G>T)
c.1252G>T (p.Gly418Trp)
c.1228G>T (p.Gly410Trp)
n.592G>T
n.6265G>T
c.756G>T
c.1231G>T (p.Gly411Trp)
c.1387G>T (p.Gly463Trp)
c.1438G>T (p.Gly480Trp)
c.*896G>T (n.*896G>T)
c.1415G>T (n.1415G>T)
c.1309G>T (p.Gly437Trp)
c.*152G>T (n.*152G>T)
c.1315G>T (p.Gly439Trp)
c.1291G>T (p.Gly431Trp)
c.1357G>T (p.Gly453Trp)
c.874G>T (p.Gly292Trp)
c.898G>T (p.Gly300Trp)
 COSMIC
5g.162153259G>ACA362183801GABRG2c.1320G>A
c.1415G>A (p.Gly472Glu)
c.1378G>A
n.573G>A
c.1010G>A (p.Gly337Glu)
c.1034G>A (p.Gly345Glu)
c.*3916G>A (n.*3916G>A)
c.1196G>A
c.686G>A (p.Gly229Glu)
c.1295G>A (p.Gly432Glu)
c.1319G>A (p.Gly440Glu)
c.1982G>A (n.1982G>A)
c.*1500G>A (n.*1500G>A)
c.*519G>A (n.*519G>A)
c.1253G>A (p.Gly418Glu)
c.1229G>A (p.Gly410Glu)
n.593G>A
n.6266G>A
c.757G>A
c.1232G>A (p.Gly411Glu)
c.1388G>A (p.Gly463Glu)
c.1439G>A (p.Gly480Glu)
c.*897G>A (n.*897G>A)
c.1416G>A (n.1416G>A)
c.1310G>A (p.Gly437Glu)
c.*153G>A (n.*153G>A)
c.1316G>A (p.Gly439Glu)
c.1292G>A (p.Gly431Glu)
c.1358G>A (p.Gly453Glu)
c.875G>A (p.Gly292Glu)
c.899G>A (p.Gly300Glu)
5g.162153259G>CCA362183802GABRG2c.1320G>C
c.1415G>C (p.Gly472Ala)
c.1378G>C
n.573G>C
c.1010G>C (p.Gly337Ala)
c.1034G>C (p.Gly345Ala)
c.*3916G>C (n.*3916G>C)
c.1196G>C
c.686G>C (p.Gly229Ala)
c.1295G>C (p.Gly432Ala)
c.1319G>C (p.Gly440Ala)
c.1982G>C (n.1982G>C)
c.*1500G>C (n.*1500G>C)
c.*519G>C (n.*519G>C)
c.1253G>C (p.Gly418Ala)
c.1229G>C (p.Gly410Ala)
n.593G>C
n.6266G>C
c.757G>C
c.1232G>C (p.Gly411Ala)
c.1388G>C (p.Gly463Ala)
c.1439G>C (p.Gly480Ala)
c.*897G>C (n.*897G>C)
c.1416G>C (n.1416G>C)
c.1310G>C (p.Gly437Ala)
c.*153G>C (n.*153G>C)
c.1316G>C (p.Gly439Ala)
c.1292G>C (p.Gly431Ala)
c.1358G>C (p.Gly453Ala)
c.875G>C (p.Gly292Ala)
c.899G>C (p.Gly300Ala)
5g.162153259G>TCA362183804GABRG2c.1320G>T
c.1415G>T (p.Gly472Val)
c.1378G>T
n.573G>T
c.1010G>T (p.Gly337Val)
c.1034G>T (p.Gly345Val)
c.*3916G>T (n.*3916G>T)
c.1196G>T
c.686G>T (p.Gly229Val)
c.1295G>T (p.Gly432Val)
c.1319G>T (p.Gly440Val)
c.1982G>T (n.1982G>T)
c.*1500G>T (n.*1500G>T)
c.*519G>T (n.*519G>T)
c.1253G>T (p.Gly418Val)
c.1229G>T (p.Gly410Val)
n.593G>T
n.6266G>T
c.757G>T
c.1232G>T (p.Gly411Val)
c.1388G>T (p.Gly463Val)
c.1439G>T (p.Gly480Val)
c.*897G>T (n.*897G>T)
c.1416G>T (n.1416G>T)
c.1310G>T (p.Gly437Val)
c.*153G>T (n.*153G>T)
c.1316G>T (p.Gly439Val)
c.1292G>T (p.Gly431Val)
c.1358G>T (p.Gly453Val)
c.875G>T (p.Gly292Val)
c.899G>T (p.Gly300Val)
5g.162153260G>ACA3544991GABRG2c.1321G>A
c.1416G>A (p.Gly472=)
c.1379G>A
n.574G>A
c.1011G>A (p.Gly337=)
c.1035G>A (p.Gly345=)
c.*3917G>A (n.*3917G>A)
c.1197G>A
c.687G>A (p.Gly229=)
c.1296G>A (p.Gly432=)
c.1320G>A (p.Gly440=)
c.1983G>A (n.1983G>A)
c.*1501G>A (n.*1501G>A)
c.*520G>A (n.*520G>A)
c.1254G>A (p.Gly418=)
c.1230G>A (p.Gly410=)
n.594G>A
n.6267G>A
c.758G>A
c.1233G>A (p.Gly411=)
c.1389G>A (p.Gly463=)
c.1440G>A (p.Gly480=)
c.*898G>A (n.*898G>A)
c.1417G>A (n.1417G>A)
c.1311G>A (p.Gly437=)
c.*154G>A (n.*154G>A)
c.1317G>A (p.Gly439=)
c.1293G>A (p.Gly431=)
c.1359G>A (p.Gly453=)
c.876G>A (p.Gly292=)
c.900G>A (p.Gly300=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.162153260G>CCA447691899GABRG2c.1321G>C
c.1416G>C (p.Gly472=)
c.1379G>C
n.574G>C
c.1011G>C (p.Gly337=)
c.1035G>C (p.Gly345=)
c.*3917G>C (n.*3917G>C)
c.1197G>C
c.687G>C (p.Gly229=)
c.1296G>C (p.Gly432=)
c.1320G>C (p.Gly440=)
c.1983G>C (n.1983G>C)
c.*1501G>C (n.*1501G>C)
c.*520G>C (n.*520G>C)
c.1254G>C (p.Gly418=)
c.1230G>C (p.Gly410=)
n.594G>C
n.6267G>C
c.758G>C
c.1233G>C (p.Gly411=)
c.1389G>C (p.Gly463=)
c.1440G>C (p.Gly480=)
c.*898G>C (n.*898G>C)
c.1417G>C (n.1417G>C)
c.1311G>C (p.Gly437=)
c.*154G>C (n.*154G>C)
c.1317G>C (p.Gly439=)
c.1293G>C (p.Gly431=)
c.1359G>C (p.Gly453=)
c.876G>C (p.Gly292=)
c.900G>C (p.Gly300=)
5g.162153260G=CA1596382150GABRG2c.1321G=
c.1416G= (p.Gly472=)
c.1379G=
n.574G=
c.1011G= (p.Gly337=)
c.1035G= (p.Gly345=)
c.*3917G= (n.*3917G=)
c.1197G=
c.687G= (p.Gly229=)
c.1296G= (p.Gly432=)
c.1320G= (p.Gly440=)
c.1983G= (n.1983G=)
c.*1501G= (n.*1501G=)
c.*520G= (n.*520G=)
c.1254G= (p.Gly418=)
c.1230G= (p.Gly410=)
n.594G=
n.6267G=
c.758G=
c.1233G= (p.Gly411=)
c.1389G= (p.Gly463=)
c.1440G= (p.Gly480=)
c.*898G= (n.*898G=)
c.1417G= (n.1417G=)
c.1311G= (p.Gly437=)
c.*154G= (n.*154G=)
c.1317G= (p.Gly439=)
c.1293G= (p.Gly431=)
c.1359G= (p.Gly453=)
c.876G= (p.Gly292=)
c.900G= (p.Gly300=)
5g.162153260G>TCA447691898GABRG2c.1321G>T
c.1416G>T (p.Gly472=)
c.1379G>T
n.574G>T
c.1011G>T (p.Gly337=)
c.1035G>T (p.Gly345=)
c.*3917G>T (n.*3917G>T)
c.1197G>T
c.687G>T (p.Gly229=)
c.1296G>T (p.Gly432=)
c.1320G>T (p.Gly440=)
c.1983G>T (n.1983G>T)
c.*1501G>T (n.*1501G>T)
c.*520G>T (n.*520G>T)
c.1254G>T (p.Gly418=)
c.1230G>T (p.Gly410=)
n.594G>T
n.6267G>T
c.758G>T
c.1233G>T (p.Gly411=)
c.1389G>T (p.Gly463=)
c.1440G>T (p.Gly480=)
c.*898G>T (n.*898G>T)
c.1417G>T (n.1417G>T)
c.1311G>T (p.Gly437=)
c.*154G>T (n.*154G>T)
c.1317G>T (p.Gly439=)
c.1293G>T (p.Gly431=)
c.1359G>T (p.Gly453=)
c.876G>T (p.Gly292=)
c.900G>T (p.Gly300=)
5g.162153261A=CA1596382155GABRG2c.1322A=
c.1417A= (p.Arg473=)
c.1380A=
n.575A=
c.1012A= (p.Arg338=)
c.1036A= (p.Arg346=)
c.*3918A= (n.*3918A=)
c.1198A=
c.688A= (p.Arg230=)
c.1297A= (p.Arg433=)
c.1321A= (p.Arg441=)
c.1984A= (n.1984A=)
c.*1502A= (n.*1502A=)
c.*521A= (n.*521A=)
c.1255A= (p.Arg419=)
c.1231A= (p.Arg411=)
n.595A=
n.6268A=
c.759A=
c.1234A= (p.Arg412=)
c.1390A= (p.Arg464=)
c.1441A= (p.Arg481=)
c.*899A= (n.*899A=)
c.1418A= (n.1418A=)
c.1312A= (p.Arg438=)
c.*155A= (n.*155A=)
c.1318A= (p.Arg440=)
c.1294A= (p.Arg432=)
c.1360A= (p.Arg454=)
c.877A= (p.Arg293=)
c.901A= (p.Arg301=)
5g.162153261A>CCA447691902GABRG2c.1322A>C
c.1417A>C (p.Arg473=)
c.1380A>C
n.575A>C
c.1012A>C (p.Arg338=)
c.1036A>C (p.Arg346=)
c.*3918A>C (n.*3918A>C)
c.1198A>C
c.688A>C (p.Arg230=)
c.1297A>C (p.Arg433=)
c.1321A>C (p.Arg441=)
c.1984A>C (n.1984A>C)
c.*1502A>C (n.*1502A>C)
c.*521A>C (n.*521A>C)
c.1255A>C (p.Arg419=)
c.1231A>C (p.Arg411=)
n.595A>C
n.6268A>C
c.759A>C
c.1234A>C (p.Arg412=)
c.1390A>C (p.Arg464=)
c.1441A>C (p.Arg481=)
c.*899A>C (n.*899A>C)
c.1418A>C (n.1418A>C)
c.1312A>C (p.Arg438=)
c.*155A>C (n.*155A>C)
c.1318A>C (p.Arg440=)
c.1294A>C (p.Arg432=)
c.1360A>C (p.Arg454=)
c.877A>C (p.Arg293=)
c.901A>C (p.Arg301=)
5g.162153261A>GCA3544992GABRG2c.1322A>G
c.1417A>G (p.Arg473Gly)
c.1380A>G
n.575A>G
c.1012A>G (p.Arg338Gly)
c.1036A>G (p.Arg346Gly)
c.*3918A>G (n.*3918A>G)
c.1198A>G
c.688A>G (p.Arg230Gly)
c.1297A>G (p.Arg433Gly)
c.1321A>G (p.Arg441Gly)
c.1984A>G (n.1984A>G)
c.*1502A>G (n.*1502A>G)
c.*521A>G (n.*521A>G)
c.1255A>G (p.Arg419Gly)
c.1231A>G (p.Arg411Gly)
n.595A>G
n.6268A>G
c.759A>G
c.1234A>G (p.Arg412Gly)
c.1390A>G (p.Arg464Gly)
c.1441A>G (p.Arg481Gly)
c.*899A>G (n.*899A>G)
c.1418A>G (n.1418A>G)
c.1312A>G (p.Arg438Gly)
c.*155A>G (n.*155A>G)
c.1318A>G (p.Arg440Gly)
c.1294A>G (p.Arg432Gly)
c.1360A>G (p.Arg454Gly)
c.877A>G (p.Arg293Gly)
c.901A>G (p.Arg301Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.162153261A>TCA362183807GABRG2c.1322A>T
c.1417A>T (p.Arg473Trp)
c.1380A>T
n.575A>T
c.1012A>T (p.Arg338Trp)
c.1036A>T (p.Arg346Trp)
c.*3918A>T (n.*3918A>T)
c.1198A>T
c.688A>T (p.Arg230Trp)
c.1297A>T (p.Arg433Trp)
c.1321A>T (p.Arg441Trp)
c.1984A>T (n.1984A>T)
c.*1502A>T (n.*1502A>T)
c.*521A>T (n.*521A>T)
c.1255A>T (p.Arg419Trp)
c.1231A>T (p.Arg411Trp)
n.595A>T
n.6268A>T
c.759A>T
c.1234A>T (p.Arg412Trp)
c.1390A>T (p.Arg464Trp)
c.1441A>T (p.Arg481Trp)
c.*899A>T (n.*899A>T)
c.1418A>T (n.1418A>T)
c.1312A>T (p.Arg438Trp)
c.*155A>T (n.*155A>T)
c.1318A>T (p.Arg440Trp)
c.1294A>T (p.Arg432Trp)
c.1360A>T (p.Arg454Trp)
c.877A>T (p.Arg293Trp)
c.901A>T (p.Arg301Trp)
5g.162153262G>ACA362183812GABRG2c.1323G>A
c.1418G>A (p.Arg473Lys)
c.1381G>A
n.576G>A
c.1013G>A (p.Arg338Lys)
c.1037G>A (p.Arg346Lys)
c.*3919G>A (n.*3919G>A)
c.1199G>A
c.689G>A (p.Arg230Lys)
c.1298G>A (p.Arg433Lys)
c.1322G>A (p.Arg441Lys)
c.1985G>A (n.1985G>A)
c.*1503G>A (n.*1503G>A)
c.*522G>A (n.*522G>A)
c.1256G>A (p.Arg419Lys)
c.1232G>A (p.Arg411Lys)
n.596G>A
n.6269G>A
c.760G>A
c.1235G>A (p.Arg412Lys)
c.1391G>A (p.Arg464Lys)
c.1442G>A (p.Arg481Lys)
c.*900G>A (n.*900G>A)
c.1419G>A (n.1419G>A)
c.1313G>A (p.Arg438Lys)
c.*156G>A (n.*156G>A)
c.1319G>A (p.Arg440Lys)
c.1295G>A (p.Arg432Lys)
c.1361G>A (p.Arg454Lys)
c.878G>A (p.Arg293Lys)
c.902G>A (p.Arg301Lys)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
5g.162153262G>CCA362183809GABRG2c.1323G>C
c.1418G>C (p.Arg473Thr)
c.1381G>C
n.576G>C
c.1013G>C (p.Arg338Thr)
c.1037G>C (p.Arg346Thr)
c.*3919G>C (n.*3919G>C)
c.1199G>C
c.689G>C (p.Arg230Thr)
c.1298G>C (p.Arg433Thr)
c.1322G>C (p.Arg441Thr)
c.1985G>C (n.1985G>C)
c.*1503G>C (n.*1503G>C)
c.*522G>C (n.*522G>C)
c.1256G>C (p.Arg419Thr)
c.1232G>C (p.Arg411Thr)
n.596G>C
n.6269G>C
c.760G>C
c.1235G>C (p.Arg412Thr)
c.1391G>C (p.Arg464Thr)
c.1442G>C (p.Arg481Thr)
c.*900G>C (n.*900G>C)
c.1419G>C (n.1419G>C)
c.1313G>C (p.Arg438Thr)
c.*156G>C (n.*156G>C)
c.1319G>C (p.Arg440Thr)
c.1295G>C (p.Arg432Thr)
c.1361G>C (p.Arg454Thr)
c.878G>C (p.Arg293Thr)
c.902G>C (p.Arg301Thr)
5g.162153262G=CA1596382158GABRG2c.1323G=
c.1418G= (p.Arg473=)
c.1381G=
n.576G=
c.1013G= (p.Arg338=)
c.1037G= (p.Arg346=)
c.*3919G= (n.*3919G=)
c.1199G=
c.689G= (p.Arg230=)
c.1298G= (p.Arg433=)
c.1322G= (p.Arg441=)
c.1985G= (n.1985G=)
c.*1503G= (n.*1503G=)
c.*522G= (n.*522G=)
c.1256G= (p.Arg419=)
c.1232G= (p.Arg411=)
n.596G=
n.6269G=
c.760G=
c.1235G= (p.Arg412=)
c.1391G= (p.Arg464=)
c.1442G= (p.Arg481=)
c.*900G= (n.*900G=)
c.1419G= (n.1419G=)
c.1313G= (p.Arg438=)
c.*156G= (n.*156G=)
c.1319G= (p.Arg440=)
c.1295G= (p.Arg432=)
c.1361G= (p.Arg454=)
c.878G= (p.Arg293=)
c.902G= (p.Arg301=)
5g.162153262G>TCA362183811GABRG2c.1323G>T
c.1418G>T (p.Arg473Met)
c.1381G>T
n.576G>T
c.1013G>T (p.Arg338Met)
c.1037G>T (p.Arg346Met)
c.*3919G>T (n.*3919G>T)
c.1199G>T
c.689G>T (p.Arg230Met)
c.1298G>T (p.Arg433Met)
c.1322G>T (p.Arg441Met)
c.1985G>T (n.1985G>T)
c.*1503G>T (n.*1503G>T)
c.*522G>T (n.*522G>T)
c.1256G>T (p.Arg419Met)
c.1232G>T (p.Arg411Met)
n.596G>T
n.6269G>T
c.760G>T
c.1235G>T (p.Arg412Met)
c.1391G>T (p.Arg464Met)
c.1442G>T (p.Arg481Met)
c.*900G>T (n.*900G>T)
c.1419G>T (n.1419G>T)
c.1313G>T (p.Arg438Met)
c.*156G>T (n.*156G>T)
c.1319G>T (p.Arg440Met)
c.1295G>T (p.Arg432Met)
c.1361G>T (p.Arg454Met)
c.878G>T (p.Arg293Met)
c.902G>T (p.Arg301Met)
5g.162153263G>ACA447691906GABRG2c.1324G>A
c.1419G>A (p.Arg473=)
c.1382G>A
n.577G>A
c.1014G>A (p.Arg338=)
c.1038G>A (p.Arg346=)
c.*3920G>A (n.*3920G>A)
c.1200G>A
c.690G>A (p.Arg230=)
c.1299G>A (p.Arg433=)
c.1323G>A (p.Arg441=)
c.1986G>A (n.1986G>A)
c.*1504G>A (n.*1504G>A)
c.*523G>A (n.*523G>A)
c.1257G>A (p.Arg419=)
c.1233G>A (p.Arg411=)
n.597G>A
n.6270G>A
c.761G>A
c.1236G>A (p.Arg412=)
c.1392G>A (p.Arg464=)
c.1443G>A (p.Arg481=)
c.*901G>A (n.*901G>A)
c.1420G>A (n.1420G>A)
c.1314G>A (p.Arg438=)
c.*157G>A (n.*157G>A)
c.1320G>A (p.Arg440=)
c.1296G>A (p.Arg432=)
c.1362G>A (p.Arg454=)
c.879G>A (p.Arg293=)
c.903G>A (p.Arg301=)
 COSMIC
5g.162153263G>CCA362183813GABRG2c.1324G>C
c.1419G>C (p.Arg473Ser)
c.1382G>C
n.577G>C
c.1014G>C (p.Arg338Ser)
c.1038G>C (p.Arg346Ser)
c.*3920G>C (n.*3920G>C)
c.1200G>C
c.690G>C (p.Arg230Ser)
c.1299G>C (p.Arg433Ser)
c.1323G>C (p.Arg441Ser)
c.1986G>C (n.1986G>C)
c.*1504G>C (n.*1504G>C)
c.*523G>C (n.*523G>C)
c.1257G>C (p.Arg419Ser)
c.1233G>C (p.Arg411Ser)
n.597G>C
n.6270G>C
c.761G>C
c.1236G>C (p.Arg412Ser)
c.1392G>C (p.Arg464Ser)
c.1443G>C (p.Arg481Ser)
c.*901G>C (n.*901G>C)
c.1420G>C (n.1420G>C)
c.1314G>C (p.Arg438Ser)
c.*157G>C (n.*157G>C)
c.1320G>C (p.Arg440Ser)
c.1296G>C (p.Arg432Ser)
c.1362G>C (p.Arg454Ser)
c.879G>C (p.Arg293Ser)
c.903G>C (p.Arg301Ser)
5g.162153263G>TCA362183814GABRG2c.1324G>T
c.1419G>T (p.Arg473Ser)
c.1382G>T
n.577G>T
c.1014G>T (p.Arg338Ser)
c.1038G>T (p.Arg346Ser)
c.*3920G>T (n.*3920G>T)
c.1200G>T
c.690G>T (p.Arg230Ser)
c.1299G>T (p.Arg433Ser)
c.1323G>T (p.Arg441Ser)
c.1986G>T (n.1986G>T)
c.*1504G>T (n.*1504G>T)
c.*523G>T (n.*523G>T)
c.1257G>T (p.Arg419Ser)
c.1233G>T (p.Arg411Ser)
n.597G>T
n.6270G>T
c.761G>T
c.1236G>T (p.Arg412Ser)
c.1392G>T (p.Arg464Ser)
c.1443G>T (p.Arg481Ser)
c.*901G>T (n.*901G>T)
c.1420G>T (n.1420G>T)
c.1314G>T (p.Arg438Ser)
c.*157G>T (n.*157G>T)
c.1320G>T (p.Arg440Ser)
c.1296G>T (p.Arg432Ser)
c.1362G>T (p.Arg454Ser)
c.879G>T (p.Arg293Ser)
c.903G>T (p.Arg301Ser)
5g.162153264A>CCA362183815GABRG2c.1325A>C
c.1420A>C (p.Ile474Leu)
c.1383A>C
n.578A>C
c.1015A>C (p.Ile339Leu)
c.1039A>C (p.Ile347Leu)
c.*3921A>C (n.*3921A>C)
c.1201A>C
c.691A>C (p.Ile231Leu)
c.1300A>C (p.Ile434Leu)
c.1324A>C (p.Ile442Leu)
c.1987A>C (n.1987A>C)
c.*1505A>C (n.*1505A>C)
c.*524A>C (n.*524A>C)
c.1258A>C (p.Ile420Leu)
c.1234A>C (p.Ile412Leu)
n.598A>C
n.6271A>C
c.762A>C
c.1237A>C (p.Ile413Leu)
c.1393A>C (p.Ile465Leu)
c.1444A>C (p.Ile482Leu)
c.*902A>C (n.*902A>C)
c.1421A>C (n.1421A>C)
c.1315A>C (p.Ile439Leu)
c.*158A>C (n.*158A>C)
c.1321A>C (p.Ile441Leu)
c.1297A>C (p.Ile433Leu)
c.1363A>C (p.Ile455Leu)
c.880A>C (p.Ile294Leu)
c.904A>C (p.Ile302Leu)
5g.162153264A>GCA362183816GABRG2c.1325A>G
c.1420A>G (p.Ile474Val)
c.1383A>G
n.578A>G
c.1015A>G (p.Ile339Val)
c.1039A>G (p.Ile347Val)
c.*3921A>G (n.*3921A>G)
c.1201A>G
c.691A>G (p.Ile231Val)
c.1300A>G (p.Ile434Val)
c.1324A>G (p.Ile442Val)
c.1987A>G (n.1987A>G)
c.*1505A>G (n.*1505A>G)
c.*524A>G (n.*524A>G)
c.1258A>G (p.Ile420Val)
c.1234A>G (p.Ile412Val)
n.598A>G
n.6271A>G
c.762A>G
c.1237A>G (p.Ile413Val)
c.1393A>G (p.Ile465Val)
c.1444A>G (p.Ile482Val)
c.*902A>G (n.*902A>G)
c.1421A>G (n.1421A>G)
c.1315A>G (p.Ile439Val)
c.*158A>G (n.*158A>G)
c.1321A>G (p.Ile441Val)
c.1297A>G (p.Ile433Val)
c.1363A>G (p.Ile455Val)
c.880A>G (p.Ile294Val)
c.904A>G (p.Ile302Val)
 ClinVar
5g.162153264A>TCA362183817GABRG2c.1325A>T
c.1420A>T (p.Ile474Leu)
c.1383A>T
n.578A>T
c.1015A>T (p.Ile339Leu)
c.1039A>T (p.Ile347Leu)
c.*3921A>T (n.*3921A>T)
c.1201A>T
c.691A>T (p.Ile231Leu)
c.1300A>T (p.Ile434Leu)
c.1324A>T (p.Ile442Leu)
c.1987A>T (n.1987A>T)
c.*1505A>T (n.*1505A>T)
c.*524A>T (n.*524A>T)
c.1258A>T (p.Ile420Leu)
c.1234A>T (p.Ile412Leu)
n.598A>T
n.6271A>T
c.762A>T
c.1237A>T (p.Ile413Leu)
c.1393A>T (p.Ile465Leu)
c.1444A>T (p.Ile482Leu)
c.*902A>T (n.*902A>T)
c.1421A>T (n.1421A>T)
c.1315A>T (p.Ile439Leu)
c.*158A>T (n.*158A>T)
c.1321A>T (p.Ile441Leu)
c.1297A>T (p.Ile433Leu)
c.1363A>T (p.Ile455Leu)
c.880A>T (p.Ile294Leu)
c.904A>T (p.Ile302Leu)
5g.162153265T>ACA362183820GABRG2c.1326T>A
c.1421T>A (p.Ile474Lys)
c.1384T>A
n.579T>A
c.1016T>A (p.Ile339Lys)
c.1040T>A (p.Ile347Lys)
c.*3922T>A (n.*3922T>A)
c.1202T>A
c.692T>A (p.Ile231Lys)
c.1301T>A (p.Ile434Lys)
c.1325T>A (p.Ile442Lys)
c.1988T>A (n.1988T>A)
c.*1506T>A (n.*1506T>A)
c.*525T>A (n.*525T>A)
c.1259T>A (p.Ile420Lys)
c.1235T>A (p.Ile412Lys)
n.599T>A
n.6272T>A
c.763T>A
c.1238T>A (p.Ile413Lys)
c.1394T>A (p.Ile465Lys)
c.1445T>A (p.Ile482Lys)
c.*903T>A (n.*903T>A)
c.1422T>A (n.1422T>A)
c.1316T>A (p.Ile439Lys)
c.*159T>A (n.*159T>A)
c.1322T>A (p.Ile441Lys)
c.1298T>A (p.Ile433Lys)
c.1364T>A (p.Ile455Lys)
c.881T>A (p.Ile294Lys)
c.905T>A (p.Ile302Lys)
5g.162153265T>CCA362183818GABRG2c.1326T>C
c.1421T>C (p.Ile474Thr)
c.1384T>C
n.579T>C
c.1016T>C (p.Ile339Thr)
c.1040T>C (p.Ile347Thr)
c.*3922T>C (n.*3922T>C)
c.1202T>C
c.692T>C (p.Ile231Thr)
c.1301T>C (p.Ile434Thr)
c.1325T>C (p.Ile442Thr)
c.1988T>C (n.1988T>C)
c.*1506T>C (n.*1506T>C)
c.*525T>C (n.*525T>C)
c.1259T>C (p.Ile420Thr)
c.1235T>C (p.Ile412Thr)
n.599T>C
n.6272T>C
c.763T>C
c.1238T>C (p.Ile413Thr)
c.1394T>C (p.Ile465Thr)
c.1445T>C (p.Ile482Thr)
c.*903T>C (n.*903T>C)
c.1422T>C (n.1422T>C)
c.1316T>C (p.Ile439Thr)
c.*159T>C (n.*159T>C)
c.1322T>C (p.Ile441Thr)
c.1298T>C (p.Ile433Thr)
c.1364T>C (p.Ile455Thr)
c.881T>C (p.Ile294Thr)
c.905T>C (p.Ile302Thr)
5g.162153265T>GCA362183819GABRG2c.1326T>G
c.1421T>G (p.Ile474Arg)
c.1384T>G
n.579T>G
c.1016T>G (p.Ile339Arg)
c.1040T>G (p.Ile347Arg)
c.*3922T>G (n.*3922T>G)
c.1202T>G
c.692T>G (p.Ile231Arg)
c.1301T>G (p.Ile434Arg)
c.1325T>G (p.Ile442Arg)
c.1988T>G (n.1988T>G)
c.*1506T>G (n.*1506T>G)
c.*525T>G (n.*525T>G)
c.1259T>G (p.Ile420Arg)
c.1235T>G (p.Ile412Arg)
n.599T>G
n.6272T>G
c.763T>G
c.1238T>G (p.Ile413Arg)
c.1394T>G (p.Ile465Arg)
c.1445T>G (p.Ile482Arg)
c.*903T>G (n.*903T>G)
c.1422T>G (n.1422T>G)
c.1316T>G (p.Ile439Arg)
c.*159T>G (n.*159T>G)
c.1322T>G (p.Ile441Arg)
c.1298T>G (p.Ile433Arg)
c.1364T>G (p.Ile455Arg)
c.881T>G (p.Ile294Arg)
c.905T>G (p.Ile302Arg)
5g.162153266A=CA1596382161GABRG2c.1327A=
c.1422A= (p.Ile474=)
c.1385A=
n.580A=
c.1017A= (p.Ile339=)
c.1041A= (p.Ile347=)
c.*3923A= (n.*3923A=)
c.1203A=
c.693A= (p.Ile231=)
c.1302A= (p.Ile434=)
c.1326A= (p.Ile442=)
c.1989A= (n.1989A=)
c.*1507A= (n.*1507A=)
c.*526A= (n.*526A=)
c.1260A= (p.Ile420=)
c.1236A= (p.Ile412=)
n.600A=
n.6273A=
c.764A=
c.1239A= (p.Ile413=)
c.1395A= (p.Ile465=)
c.1446A= (p.Ile482=)
c.*904A= (n.*904A=)
c.1423A= (n.1423A=)
c.1317A= (p.Ile439=)
c.*160A= (n.*160A=)
c.1323A= (p.Ile441=)
c.1299A= (p.Ile433=)
c.1365A= (p.Ile455=)
c.882A= (p.Ile294=)
c.906A= (p.Ile302=)
5g.162153266A>CCA447691915GABRG2c.1327A>C
c.1422A>C (p.Ile474=)
c.1385A>C
n.580A>C
c.1017A>C (p.Ile339=)
c.1041A>C (p.Ile347=)
c.*3923A>C (n.*3923A>C)
c.1203A>C
c.693A>C (p.Ile231=)
c.1302A>C (p.Ile434=)
c.1326A>C (p.Ile442=)
c.1989A>C (n.1989A>C)
c.*1507A>C (n.*1507A>C)
c.*526A>C (n.*526A>C)
c.1260A>C (p.Ile420=)
c.1236A>C (p.Ile412=)
n.600A>C
n.6273A>C
c.764A>C
c.1239A>C (p.Ile413=)
c.1395A>C (p.Ile465=)
c.1446A>C (p.Ile482=)
c.*904A>C (n.*904A>C)
c.1423A>C (n.1423A>C)
c.1317A>C (p.Ile439=)
c.*160A>C (n.*160A>C)
c.1323A>C (p.Ile441=)
c.1299A>C (p.Ile433=)
c.1365A>C (p.Ile455=)
c.882A>C (p.Ile294=)
c.906A>C (p.Ile302=)
5g.162153266A>GCA131117674GABRG2c.1327A>G
c.1422A>G (p.Ile474Met)
c.1385A>G
n.580A>G
c.1017A>G (p.Ile339Met)
c.1041A>G (p.Ile347Met)
c.*3923A>G (n.*3923A>G)
c.1203A>G
c.693A>G (p.Ile231Met)
c.1302A>G (p.Ile434Met)
c.1326A>G (p.Ile442Met)
c.1989A>G (n.1989A>G)
c.*1507A>G (n.*1507A>G)
c.*526A>G (n.*526A>G)
c.1260A>G (p.Ile420Met)
c.1236A>G (p.Ile412Met)
n.600A>G
n.6273A>G
c.764A>G
c.1239A>G (p.Ile413Met)
c.1395A>G (p.Ile465Met)
c.1446A>G (p.Ile482Met)
c.*904A>G (n.*904A>G)
c.1423A>G (n.1423A>G)
c.1317A>G (p.Ile439Met)
c.*160A>G (n.*160A>G)
c.1323A>G (p.Ile441Met)
c.1299A>G (p.Ile433Met)
c.1365A>G (p.Ile455Met)
c.882A>G (p.Ile294Met)
c.906A>G (p.Ile302Met)
 dbSNP gnomAD v4
5g.162153266A>TCA447691916GABRG2c.1327A>T
c.1422A>T (p.Ile474=)
c.1385A>T
n.580A>T
c.1017A>T (p.Ile339=)
c.1041A>T (p.Ile347=)
c.*3923A>T (n.*3923A>T)
c.1203A>T
c.693A>T (p.Ile231=)
c.1302A>T (p.Ile434=)
c.1326A>T (p.Ile442=)
c.1989A>T (n.1989A>T)
c.*1507A>T (n.*1507A>T)
c.*526A>T (n.*526A>T)
c.1260A>T (p.Ile420=)
c.1236A>T (p.Ile412=)
n.600A>T
n.6273A>T
c.764A>T
c.1239A>T (p.Ile413=)
c.1395A>T (p.Ile465=)
c.1446A>T (p.Ile482=)
c.*904A>T (n.*904A>T)
c.1423A>T (n.1423A>T)
c.1317A>T (p.Ile439=)
c.*160A>T (n.*160A>T)
c.1323A>T (p.Ile441=)
c.1299A>T (p.Ile433=)
c.1365A>T (p.Ile455=)
c.882A>T (p.Ile294=)
c.906A>T (p.Ile302=)
5g.162153267C>ACA362183823GABRG2c.1328C>A
c.1423C>A (p.His475Asn)
c.1386C>A
n.581C>A
c.1018C>A (p.His340Asn)
c.1042C>A (p.His348Asn)
c.*3924C>A (n.*3924C>A)
c.1204C>A
c.694C>A (p.His232Asn)
c.1303C>A (p.His435Asn)
c.1327C>A (p.His443Asn)
c.1990C>A (n.1990C>A)
c.*1508C>A (n.*1508C>A)
c.*527C>A (n.*527C>A)
c.1261C>A (p.His421Asn)
c.1237C>A (p.His413Asn)
n.601C>A
n.6274C>A
c.765C>A
c.1240C>A (p.His414Asn)
c.1396C>A (p.His466Asn)
c.1447C>A (p.His483Asn)
c.*905C>A (n.*905C>A)
c.1424C>A (n.1424C>A)
c.1318C>A (p.His440Asn)
c.*161C>A (n.*161C>A)
c.1324C>A (p.His442Asn)
c.1300C>A (p.His434Asn)
c.1366C>A (p.His456Asn)
c.883C>A (p.His295Asn)
c.907C>A (p.His303Asn)
5g.162153267C>GCA362183825GABRG2c.1328C>G
c.1423C>G (p.His475Asp)
c.1386C>G
n.581C>G
c.1018C>G (p.His340Asp)
c.1042C>G (p.His348Asp)
c.*3924C>G (n.*3924C>G)
c.1204C>G
c.694C>G (p.His232Asp)
c.1303C>G (p.His435Asp)
c.1327C>G (p.His443Asp)
c.1990C>G (n.1990C>G)
c.*1508C>G (n.*1508C>G)
c.*527C>G (n.*527C>G)
c.1261C>G (p.His421Asp)
c.1237C>G (p.His413Asp)
n.601C>G
n.6274C>G
c.765C>G
c.1240C>G (p.His414Asp)
c.1396C>G (p.His466Asp)
c.1447C>G (p.His483Asp)
c.*905C>G (n.*905C>G)
c.1424C>G (n.1424C>G)
c.1318C>G (p.His440Asp)
c.*161C>G (n.*161C>G)
c.1324C>G (p.His442Asp)
c.1300C>G (p.His434Asp)
c.1366C>G (p.His456Asp)
c.883C>G (p.His295Asp)
c.907C>G (p.His303Asp)
5g.162153267C>TCA362183827GABRG2c.1328C>T
c.1423C>T (p.His475Tyr)
c.1386C>T
n.581C>T
c.1018C>T (p.His340Tyr)
c.1042C>T (p.His348Tyr)
c.*3924C>T (n.*3924C>T)
c.1204C>T
c.694C>T (p.His232Tyr)
c.1303C>T (p.His435Tyr)
c.1327C>T (p.His443Tyr)
c.1990C>T (n.1990C>T)
c.*1508C>T (n.*1508C>T)
c.*527C>T (n.*527C>T)
c.1261C>T (p.His421Tyr)
c.1237C>T (p.His413Tyr)
n.601C>T
n.6274C>T
c.765C>T
c.1240C>T (p.His414Tyr)
c.1396C>T (p.His466Tyr)
c.1447C>T (p.His483Tyr)
c.*905C>T (n.*905C>T)
c.1424C>T (n.1424C>T)
c.1318C>T (p.His440Tyr)
c.*161C>T (n.*161C>T)
c.1324C>T (p.His442Tyr)
c.1300C>T (p.His434Tyr)
c.1366C>T (p.His456Tyr)
c.883C>T (p.His295Tyr)
c.907C>T (p.His303Tyr)
5g.162153268A>CCA362183828GABRG2c.1329A>C
c.1424A>C (p.His475Pro)
c.1387A>C
n.582A>C
c.1019A>C (p.His340Pro)
c.1043A>C (p.His348Pro)
c.*3925A>C (n.*3925A>C)
c.1205A>C
c.695A>C (p.His232Pro)
c.1304A>C (p.His435Pro)
c.1328A>C (p.His443Pro)
c.1991A>C (n.1991A>C)
c.*1509A>C (n.*1509A>C)
c.*528A>C (n.*528A>C)
c.1262A>C (p.His421Pro)
c.1238A>C (p.His413Pro)
n.602A>C
n.6275A>C
c.766A>C
c.1241A>C (p.His414Pro)
c.1397A>C (p.His466Pro)
c.1448A>C (p.His483Pro)
c.*906A>C (n.*906A>C)
c.1425A>C (n.1425A>C)
c.1319A>C (p.His440Pro)
c.*162A>C (n.*162A>C)
c.1325A>C (p.His442Pro)
c.1301A>C (p.His434Pro)
c.1367A>C (p.His456Pro)
c.884A>C (p.His295Pro)
c.908A>C (p.His303Pro)
 gnomAD v4
5g.162153268A>GCA362183830GABRG2c.1329A>G
c.1424A>G (p.His475Arg)
c.1387A>G
n.582A>G
c.1019A>G (p.His340Arg)
c.1043A>G (p.His348Arg)
c.*3925A>G (n.*3925A>G)
c.1205A>G
c.695A>G (p.His232Arg)
c.1304A>G (p.His435Arg)
c.1328A>G (p.His443Arg)
c.1991A>G (n.1991A>G)
c.*1509A>G (n.*1509A>G)
c.*528A>G (n.*528A>G)
c.1262A>G (p.His421Arg)
c.1238A>G (p.His413Arg)
n.602A>G
n.6275A>G
c.766A>G
c.1241A>G (p.His414Arg)
c.1397A>G (p.His466Arg)
c.1448A>G (p.His483Arg)
c.*906A>G (n.*906A>G)
c.1425A>G (n.1425A>G)
c.1319A>G (p.His440Arg)
c.*162A>G (n.*162A>G)
c.1325A>G (p.His442Arg)
c.1301A>G (p.His434Arg)
c.1367A>G (p.His456Arg)
c.884A>G (p.His295Arg)
c.908A>G (p.His303Arg)
5g.162153268A>TCA362183832GABRG2c.1329A>T
c.1424A>T (p.His475Leu)
c.1387A>T
n.582A>T
c.1019A>T (p.His340Leu)
c.1043A>T (p.His348Leu)
c.*3925A>T (n.*3925A>T)
c.1205A>T
c.695A>T (p.His232Leu)
c.1304A>T (p.His435Leu)
c.1328A>T (p.His443Leu)
c.1991A>T (n.1991A>T)
c.*1509A>T (n.*1509A>T)
c.*528A>T (n.*528A>T)
c.1262A>T (p.His421Leu)
c.1238A>T (p.His413Leu)
n.602A>T
n.6275A>T
c.766A>T
c.1241A>T (p.His414Leu)
c.1397A>T (p.His466Leu)
c.1448A>T (p.His483Leu)
c.*906A>T (n.*906A>T)
c.1425A>T (n.1425A>T)
c.1319A>T (p.His440Leu)
c.*162A>T (n.*162A>T)
c.1325A>T (p.His442Leu)
c.1301A>T (p.His434Leu)
c.1367A>T (p.His456Leu)
c.884A>T (p.His295Leu)
c.908A>T (p.His303Leu)
5g.162153269T>ACA362183834GABRG2c.1330T>A
c.1425T>A (p.His475Gln)
c.1388T>A
n.583T>A
c.1020T>A (p.His340Gln)
c.1044T>A (p.His348Gln)
c.*3926T>A (n.*3926T>A)
c.1206T>A
c.696T>A (p.His232Gln)
c.1305T>A (p.His435Gln)
c.1329T>A (p.His443Gln)
c.1992T>A (n.1992T>A)
c.*1510T>A (n.*1510T>A)
c.*529T>A (n.*529T>A)
c.1263T>A (p.His421Gln)
c.1239T>A (p.His413Gln)
n.603T>A
n.6276T>A
c.767T>A
c.1242T>A (p.His414Gln)
c.1398T>A (p.His466Gln)
c.1449T>A (p.His483Gln)
c.*907T>A (n.*907T>A)
c.1426T>A (n.1426T>A)
c.1320T>A (p.His440Gln)
c.*163T>A (n.*163T>A)
c.1326T>A (p.His442Gln)
c.1302T>A (p.His434Gln)
c.1368T>A (p.His456Gln)
c.885T>A (p.His295Gln)
c.909T>A (p.His303Gln)
5g.162153269T>CCA447691919GABRG2c.1330T>C
c.1425T>C (p.His475=)
c.1388T>C
n.583T>C
c.1020T>C (p.His340=)
c.1044T>C (p.His348=)
c.*3926T>C (n.*3926T>C)
c.1206T>C
c.696T>C (p.His232=)
c.1305T>C (p.His435=)
c.1329T>C (p.His443=)
c.1992T>C (n.1992T>C)
c.*1510T>C (n.*1510T>C)
c.*529T>C (n.*529T>C)
c.1263T>C (p.His421=)
c.1239T>C (p.His413=)
n.603T>C
n.6276T>C
c.767T>C
c.1242T>C (p.His414=)
c.1398T>C (p.His466=)
c.1449T>C (p.His483=)
c.*907T>C (n.*907T>C)
c.1426T>C (n.1426T>C)
c.1320T>C (p.His440=)
c.*163T>C (n.*163T>C)
c.1326T>C (p.His442=)
c.1302T>C (p.His434=)
c.1368T>C (p.His456=)
c.885T>C (p.His295=)
c.909T>C (p.His303=)
 gnomAD v4
5g.162153269T>GCA362183835GABRG2c.1330T>G
c.1425T>G (p.His475Gln)
c.1388T>G
n.583T>G
c.1020T>G (p.His340Gln)
c.1044T>G (p.His348Gln)
c.*3926T>G (n.*3926T>G)
c.1206T>G
c.696T>G (p.His232Gln)
c.1305T>G (p.His435Gln)
c.1329T>G (p.His443Gln)
c.1992T>G (n.1992T>G)
c.*1510T>G (n.*1510T>G)
c.*529T>G (n.*529T>G)
c.1263T>G (p.His421Gln)
c.1239T>G (p.His413Gln)
n.603T>G
n.6276T>G
c.767T>G
c.1242T>G (p.His414Gln)
c.1398T>G (p.His466Gln)
c.1449T>G (p.His483Gln)
c.*907T>G (n.*907T>G)
c.1426T>G (n.1426T>G)
c.1320T>G (p.His440Gln)
c.*163T>G (n.*163T>G)
c.1326T>G (p.His442Gln)
c.1302T>G (p.His434Gln)
c.1368T>G (p.His456Gln)
c.885T>G (p.His295Gln)
c.909T>G (p.His303Gln)
5g.162153270A>CCA362183837GABRG2c.1331A>C
c.1426A>C (p.Ile476Leu)
c.1389A>C
n.584A>C
c.1021A>C (p.Ile341Leu)
c.1045A>C (p.Ile349Leu)
c.*3927A>C (n.*3927A>C)
c.1207A>C
c.697A>C (p.Ile233Leu)
c.1306A>C (p.Ile436Leu)
c.1330A>C (p.Ile444Leu)
c.1993A>C (n.1993A>C)
c.*1511A>C (n.*1511A>C)
c.*530A>C (n.*530A>C)
c.1264A>C (p.Ile422Leu)
c.1240A>C (p.Ile414Leu)
n.604A>C
n.6277A>C
c.768A>C
c.1243A>C (p.Ile415Leu)
c.1399A>C (p.Ile467Leu)
c.1450A>C (p.Ile484Leu)
c.*908A>C (n.*908A>C)
c.1427A>C (n.1427A>C)
c.1321A>C (p.Ile441Leu)
c.*164A>C (n.*164A>C)
c.1327A>C (p.Ile443Leu)
c.1303A>C (p.Ile435Leu)
c.1369A>C (p.Ile457Leu)
c.886A>C (p.Ile296Leu)
c.910A>C (p.Ile304Leu)
5g.162153270A>GCA362183839GABRG2c.1331A>G
c.1426A>G (p.Ile476Val)
c.1389A>G
n.584A>G
c.1021A>G (p.Ile341Val)
c.1045A>G (p.Ile349Val)
c.*3927A>G (n.*3927A>G)
c.1207A>G
c.697A>G (p.Ile233Val)
c.1306A>G (p.Ile436Val)
c.1330A>G (p.Ile444Val)
c.1993A>G (n.1993A>G)
c.*1511A>G (n.*1511A>G)
c.*530A>G (n.*530A>G)
c.1264A>G (p.Ile422Val)
c.1240A>G (p.Ile414Val)
n.604A>G
n.6277A>G
c.768A>G
c.1243A>G (p.Ile415Val)
c.1399A>G (p.Ile467Val)
c.1450A>G (p.Ile484Val)
c.*908A>G (n.*908A>G)
c.1427A>G (n.1427A>G)
c.1321A>G (p.Ile441Val)
c.*164A>G (n.*164A>G)
c.1327A>G (p.Ile443Val)
c.1303A>G (p.Ile435Val)
c.1369A>G (p.Ile457Val)
c.886A>G (p.Ile296Val)
c.910A>G (p.Ile304Val)
 gnomAD v4
5g.162153270A>TCA362183840GABRG2c.1331A>T
c.1426A>T (p.Ile476Phe)
c.1389A>T
n.584A>T
c.1021A>T (p.Ile341Phe)
c.1045A>T (p.Ile349Phe)
c.*3927A>T (n.*3927A>T)
c.1207A>T
c.697A>T (p.Ile233Phe)
c.1306A>T (p.Ile436Phe)
c.1330A>T (p.Ile444Phe)
c.1993A>T (n.1993A>T)
c.*1511A>T (n.*1511A>T)
c.*530A>T (n.*530A>T)
c.1264A>T (p.Ile422Phe)
c.1240A>T (p.Ile414Phe)
n.604A>T
n.6277A>T
c.768A>T
c.1243A>T (p.Ile415Phe)
c.1399A>T (p.Ile467Phe)
c.1450A>T (p.Ile484Phe)
c.*908A>T (n.*908A>T)
c.1427A>T (n.1427A>T)
c.1321A>T (p.Ile441Phe)
c.*164A>T (n.*164A>T)
c.1327A>T (p.Ile443Phe)
c.1303A>T (p.Ile435Phe)
c.1369A>T (p.Ile457Phe)
c.886A>T (p.Ile296Phe)
c.910A>T (p.Ile304Phe)
5g.162153271T>ACA362183846GABRG2c.1332T>A
c.1427T>A (p.Ile476Asn)
c.1390T>A
n.585T>A
c.1022T>A (p.Ile341Asn)
c.1046T>A (p.Ile349Asn)
c.*3928T>A (n.*3928T>A)
c.1208T>A
c.698T>A (p.Ile233Asn)
c.1307T>A (p.Ile436Asn)
c.1331T>A (p.Ile444Asn)
c.1994T>A (n.1994T>A)
c.*1512T>A (n.*1512T>A)
c.*531T>A (n.*531T>A)
c.1265T>A (p.Ile422Asn)
c.1241T>A (p.Ile414Asn)
n.605T>A
n.6278T>A
c.769T>A
c.1244T>A (p.Ile415Asn)
c.1400T>A (p.Ile467Asn)
c.1451T>A (p.Ile484Asn)
c.*909T>A (n.*909T>A)
c.1428T>A (n.1428T>A)
c.1322T>A (p.Ile441Asn)
c.*165T>A (n.*165T>A)
c.1328T>A (p.Ile443Asn)
c.1304T>A (p.Ile435Asn)
c.1370T>A (p.Ile457Asn)
c.887T>A (p.Ile296Asn)
c.911T>A (p.Ile304Asn)
5g.162153271T>CCA362183843GABRG2c.1332T>C
c.1427T>C (p.Ile476Thr)
c.1390T>C
n.585T>C
c.1022T>C (p.Ile341Thr)
c.1046T>C (p.Ile349Thr)
c.*3928T>C (n.*3928T>C)
c.1208T>C
c.698T>C (p.Ile233Thr)
c.1307T>C (p.Ile436Thr)
c.1331T>C (p.Ile444Thr)
c.1994T>C (n.1994T>C)
c.*1512T>C (n.*1512T>C)
c.*531T>C (n.*531T>C)
c.1265T>C (p.Ile422Thr)
c.1241T>C (p.Ile414Thr)
n.605T>C
n.6278T>C
c.769T>C
c.1244T>C (p.Ile415Thr)
c.1400T>C (p.Ile467Thr)
c.1451T>C (p.Ile484Thr)
c.*909T>C (n.*909T>C)
c.1428T>C (n.1428T>C)
c.1322T>C (p.Ile441Thr)
c.*165T>C (n.*165T>C)
c.1328T>C (p.Ile443Thr)
c.1304T>C (p.Ile435Thr)
c.1370T>C (p.Ile457Thr)
c.887T>C (p.Ile296Thr)
c.911T>C (p.Ile304Thr)
 ClinVar dbSNP
5g.162153271T>GCA362183844GABRG2c.1332T>G
c.1427T>G (p.Ile476Ser)
c.1390T>G
n.585T>G
c.1022T>G (p.Ile341Ser)
c.1046T>G (p.Ile349Ser)
c.*3928T>G (n.*3928T>G)
c.1208T>G
c.698T>G (p.Ile233Ser)
c.1307T>G (p.Ile436Ser)
c.1331T>G (p.Ile444Ser)
c.1994T>G (n.1994T>G)
c.*1512T>G (n.*1512T>G)
c.*531T>G (n.*531T>G)
c.1265T>G (p.Ile422Ser)
c.1241T>G (p.Ile414Ser)
n.605T>G
n.6278T>G
c.769T>G
c.1244T>G (p.Ile415Ser)
c.1400T>G (p.Ile467Ser)
c.1451T>G (p.Ile484Ser)
c.*909T>G (n.*909T>G)
c.1428T>G (n.1428T>G)
c.1322T>G (p.Ile441Ser)
c.*165T>G (n.*165T>G)
c.1328T>G (p.Ile443Ser)
c.1304T>G (p.Ile435Ser)
c.1370T>G (p.Ile457Ser)
c.887T>G (p.Ile296Ser)
c.911T>G (p.Ile304Ser)
 gnomAD v4
5g.162153271T=CA1596382164GABRG2c.1332T=
c.1427T= (p.Ile476=)
c.1390T=
n.585T=
c.1022T= (p.Ile341=)
c.1046T= (p.Ile349=)
c.*3928T= (n.*3928T=)
c.1208T=
c.698T= (p.Ile233=)
c.1307T= (p.Ile436=)
c.1331T= (p.Ile444=)
c.1994T= (n.1994T=)
c.*1512T= (n.*1512T=)
c.*531T= (n.*531T=)
c.1265T= (p.Ile422=)
c.1241T= (p.Ile414=)
n.605T=
n.6278T=
c.769T=
c.1244T= (p.Ile415=)
c.1400T= (p.Ile467=)
c.1451T= (p.Ile484=)
c.*909T= (n.*909T=)
c.1428T= (n.1428T=)
c.1322T= (p.Ile441=)
c.*165T= (n.*165T=)
c.1328T= (p.Ile443=)
c.1304T= (p.Ile435=)
c.1370T= (p.Ile457=)
c.887T= (p.Ile296=)
c.911T= (p.Ile304=)
5g.162153272C>ACA447691927GABRG2c.1333C>A
c.1428C>A (p.Ile476=)
c.1391C>A
n.586C>A
c.1023C>A (p.Ile341=)
c.1047C>A (p.Ile349=)
c.*3929C>A (n.*3929C>A)
c.1209C>A
c.699C>A (p.Ile233=)
c.1308C>A (p.Ile436=)
c.1332C>A (p.Ile444=)
c.1995C>A (n.1995C>A)
c.*1513C>A (n.*1513C>A)
c.*532C>A (n.*532C>A)
c.1266C>A (p.Ile422=)
c.1242C>A (p.Ile414=)
n.606C>A
n.6279C>A
c.770C>A
c.1245C>A (p.Ile415=)
c.1401C>A (p.Ile467=)
c.1452C>A (p.Ile484=)
c.*910C>A (n.*910C>A)
c.1429C>A (n.1429C>A)
c.1323C>A (p.Ile441=)
c.*166C>A (n.*166C>A)
c.1329C>A (p.Ile443=)
c.1305C>A (p.Ile435=)
c.1371C>A (p.Ile457=)
c.888C>A (p.Ile296=)
c.912C>A (p.Ile304=)
5g.162153272C>GCA362183847GABRG2c.1333C>G
c.1428C>G (p.Ile476Met)
c.1391C>G
n.586C>G
c.1023C>G (p.Ile341Met)
c.1047C>G (p.Ile349Met)
c.*3929C>G (n.*3929C>G)
c.1209C>G
c.699C>G (p.Ile233Met)
c.1308C>G (p.Ile436Met)
c.1332C>G (p.Ile444Met)
c.1995C>G (n.1995C>G)
c.*1513C>G (n.*1513C>G)
c.*532C>G (n.*532C>G)
c.1266C>G (p.Ile422Met)
c.1242C>G (p.Ile414Met)
n.606C>G
n.6279C>G
c.770C>G
c.1245C>G (p.Ile415Met)
c.1401C>G (p.Ile467Met)
c.1452C>G (p.Ile484Met)
c.*910C>G (n.*910C>G)
c.1429C>G (n.1429C>G)
c.1323C>G (p.Ile441Met)
c.*166C>G (n.*166C>G)
c.1329C>G (p.Ile443Met)
c.1305C>G (p.Ile435Met)
c.1371C>G (p.Ile457Met)
c.888C>G (p.Ile296Met)
c.912C>G (p.Ile304Met)
 COSMIC
5g.162153272C>TCA447691928GABRG2c.1333C>T
c.1428C>T (p.Ile476=)
c.1391C>T
n.586C>T
c.1023C>T (p.Ile341=)
c.1047C>T (p.Ile349=)
c.*3929C>T (n.*3929C>T)
c.1209C>T
c.699C>T (p.Ile233=)
c.1308C>T (p.Ile436=)
c.1332C>T (p.Ile444=)
c.1995C>T (n.1995C>T)
c.*1513C>T (n.*1513C>T)
c.*532C>T (n.*532C>T)
c.1266C>T (p.Ile422=)
c.1242C>T (p.Ile414=)
n.606C>T
n.6279C>T
c.770C>T
c.1245C>T (p.Ile415=)
c.1401C>T (p.Ile467=)
c.1452C>T (p.Ile484=)
c.*910C>T (n.*910C>T)
c.1429C>T (n.1429C>T)
c.1323C>T (p.Ile441=)
c.*166C>T (n.*166C>T)
c.1329C>T (p.Ile443=)
c.1305C>T (p.Ile435=)
c.1371C>T (p.Ile457=)
c.888C>T (p.Ile296=)
c.912C>T (p.Ile304=)
5g.162153273C>ACA362183850GABRG2c.1334C>A
c.1429C>A (p.Arg477Ser)
c.1392C>A
n.587C>A
c.1024C>A (p.Arg342Ser)
c.1048C>A (p.Arg350Ser)
c.*3930C>A (n.*3930C>A)
c.1210C>A
c.700C>A (p.Arg234Ser)
c.1309C>A (p.Arg437Ser)
c.1333C>A (p.Arg445Ser)
c.1996C>A (n.1996C>A)
c.*1514C>A (n.*1514C>A)
c.*533C>A (n.*533C>A)
c.1267C>A (p.Arg423Ser)
c.1243C>A (p.Arg415Ser)
n.607C>A
n.6280C>A
c.771C>A
c.1246C>A (p.Arg416Ser)
c.1402C>A (p.Arg468Ser)
c.1453C>A (p.Arg485Ser)
c.*911C>A (n.*911C>A)
c.1430C>A (n.1430C>A)
c.1324C>A (p.Arg442Ser)
c.*167C>A (n.*167C>A)
c.1330C>A (p.Arg444Ser)
c.1306C>A (p.Arg436Ser)
c.1372C>A (p.Arg458Ser)
c.889C>A (p.Arg297Ser)
c.913C>A (p.Arg305Ser)
 COSMIC
5g.162153273C=CA1596382167GABRG2c.1334C=
c.1429C= (p.Arg477=)
c.1392C=
n.587C=
c.1024C= (p.Arg342=)
c.1048C= (p.Arg350=)
c.*3930C= (n.*3930C=)
c.1210C=
c.700C= (p.Arg234=)
c.1309C= (p.Arg437=)
c.1333C= (p.Arg445=)
c.1996C= (n.1996C=)
c.*1514C= (n.*1514C=)
c.*533C= (n.*533C=)
c.1267C= (p.Arg423=)
c.1243C= (p.Arg415=)
n.607C=
n.6280C=
c.771C=
c.1246C= (p.Arg416=)
c.1402C= (p.Arg468=)
c.1453C= (p.Arg485=)
c.*911C= (n.*911C=)
c.1430C= (n.1430C=)
c.1324C= (p.Arg442=)
c.*167C= (n.*167C=)
c.1330C= (p.Arg444=)
c.1306C= (p.Arg436=)
c.1372C= (p.Arg458=)
c.889C= (p.Arg297=)
c.913C= (p.Arg305=)
5g.162153273C>GCA362183851GABRG2c.1334C>G
c.1429C>G (p.Arg477Gly)
c.1392C>G
n.587C>G
c.1024C>G (p.Arg342Gly)
c.1048C>G (p.Arg350Gly)
c.*3930C>G (n.*3930C>G)
c.1210C>G
c.700C>G (p.Arg234Gly)
c.1309C>G (p.Arg437Gly)
c.1333C>G (p.Arg445Gly)
c.1996C>G (n.1996C>G)
c.*1514C>G (n.*1514C>G)
c.*533C>G (n.*533C>G)
c.1267C>G (p.Arg423Gly)
c.1243C>G (p.Arg415Gly)
n.607C>G
n.6280C>G
c.771C>G
c.1246C>G (p.Arg416Gly)
c.1402C>G (p.Arg468Gly)
c.1453C>G (p.Arg485Gly)
c.*911C>G (n.*911C>G)
c.1430C>G (n.1430C>G)
c.1324C>G (p.Arg442Gly)
c.*167C>G (n.*167C>G)
c.1330C>G (p.Arg444Gly)
c.1306C>G (p.Arg436Gly)
c.1372C>G (p.Arg458Gly)
c.889C>G (p.Arg297Gly)
c.913C>G (p.Arg305Gly)
5g.162153273C>TCA362183853GABRG2c.1334C>T
c.1429C>T (p.Arg477Cys)
c.1392C>T
n.587C>T
c.1024C>T (p.Arg342Cys)
c.1048C>T (p.Arg350Cys)
c.*3930C>T (n.*3930C>T)
c.1210C>T
c.700C>T (p.Arg234Cys)
c.1309C>T (p.Arg437Cys)
c.1333C>T (p.Arg445Cys)
c.1996C>T (n.1996C>T)
c.*1514C>T (n.*1514C>T)
c.*533C>T (n.*533C>T)
c.1267C>T (p.Arg423Cys)
c.1243C>T (p.Arg415Cys)
n.607C>T
n.6280C>T
c.771C>T
c.1246C>T (p.Arg416Cys)
c.1402C>T (p.Arg468Cys)
c.1453C>T (p.Arg485Cys)
c.*911C>T (n.*911C>T)
c.1430C>T (n.1430C>T)
c.1324C>T (p.Arg442Cys)
c.*167C>T (n.*167C>T)
c.1330C>T (p.Arg444Cys)
c.1306C>T (p.Arg436Cys)
c.1372C>T (p.Arg458Cys)
c.889C>T (p.Arg297Cys)
c.913C>T (p.Arg305Cys)
 ClinVar dbSNP gnomAD v4
5g.162153274G>ACA10623910GABRG2c.1335G>A
c.1430G>A (p.Arg477His)
c.1393G>A
n.588G>A
c.1025G>A (p.Arg342His)
c.1049G>A (p.Arg350His)
c.*3931G>A (n.*3931G>A)
c.1211G>A
c.701G>A (p.Arg234His)
c.1310G>A (p.Arg437His)
c.1334G>A (p.Arg445His)
c.1997G>A (n.1997G>A)
c.*1515G>A (n.*1515G>A)
c.*534G>A (n.*534G>A)
c.1268G>A (p.Arg423His)
c.1244G>A (p.Arg415His)
n.608G>A
n.6281G>A
c.772G>A
c.1247G>A (p.Arg416His)
c.1403G>A (p.Arg468His)
c.1454G>A (p.Arg485His)
c.*912G>A (n.*912G>A)
c.1431G>A (n.1431G>A)
c.1325G>A (p.Arg442His)
c.*168G>A (n.*168G>A)
c.1331G>A (p.Arg444His)
c.1307G>A (p.Arg436His)
c.1373G>A (p.Arg458His)
c.890G>A (p.Arg297His)
c.914G>A (p.Arg305His)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.162153274G>CCA362183856GABRG2c.1335G>C
c.1430G>C (p.Arg477Pro)
c.1393G>C
n.588G>C
c.1025G>C (p.Arg342Pro)
c.1049G>C (p.Arg350Pro)
c.*3931G>C (n.*3931G>C)
c.1211G>C
c.701G>C (p.Arg234Pro)
c.1310G>C (p.Arg437Pro)
c.1334G>C (p.Arg445Pro)
c.1997G>C (n.1997G>C)
c.*1515G>C (n.*1515G>C)
c.*534G>C (n.*534G>C)
c.1268G>C (p.Arg423Pro)
c.1244G>C (p.Arg415Pro)
n.608G>C
n.6281G>C
c.772G>C
c.1247G>C (p.Arg416Pro)
c.1403G>C (p.Arg468Pro)
c.1454G>C (p.Arg485Pro)
c.*912G>C (n.*912G>C)
c.1431G>C (n.1431G>C)
c.1325G>C (p.Arg442Pro)
c.*168G>C (n.*168G>C)
c.1331G>C (p.Arg444Pro)
c.1307G>C (p.Arg436Pro)
c.1373G>C (p.Arg458Pro)
c.890G>C (p.Arg297Pro)
c.914G>C (p.Arg305Pro)
5g.162153274G=CA1596382173GABRG2c.1335G=
c.1430G= (p.Arg477=)
c.1393G=
n.588G=
c.1025G= (p.Arg342=)
c.1049G= (p.Arg350=)
c.*3931G= (n.*3931G=)
c.1211G=
c.701G= (p.Arg234=)
c.1310G= (p.Arg437=)
c.1334G= (p.Arg445=)
c.1997G= (n.1997G=)
c.*1515G= (n.*1515G=)
c.*534G= (n.*534G=)
c.1268G= (p.Arg423=)
c.1244G= (p.Arg415=)
n.608G=
n.6281G=
c.772G=
c.1247G= (p.Arg416=)
c.1403G= (p.Arg468=)
c.1454G= (p.Arg485=)
c.*912G= (n.*912G=)
c.1431G= (n.1431G=)
c.1325G= (p.Arg442=)
c.*168G= (n.*168G=)
c.1331G= (p.Arg444=)
c.1307G= (p.Arg436=)
c.1373G= (p.Arg458=)
c.890G= (p.Arg297=)
c.914G= (p.Arg305=)
5g.162153274G>TCA231132GABRG2c.1335G>T
c.1430G>T (p.Arg477Leu)
c.1393G>T
n.588G>T
c.1025G>T (p.Arg342Leu)
c.1049G>T (p.Arg350Leu)
c.*3931G>T (n.*3931G>T)
c.1211G>T
c.701G>T (p.Arg234Leu)
c.1310G>T (p.Arg437Leu)
c.1334G>T (p.Arg445Leu)
c.1997G>T (n.1997G>T)
c.*1515G>T (n.*1515G>T)
c.*534G>T (n.*534G>T)
c.1268G>T (p.Arg423Leu)
c.1244G>T (p.Arg415Leu)
n.608G>T
n.6281G>T
c.772G>T
c.1247G>T (p.Arg416Leu)
c.1403G>T (p.Arg468Leu)
c.1454G>T (p.Arg485Leu)
c.*912G>T (n.*912G>T)
c.1431G>T (n.1431G>T)
c.1325G>T (p.Arg442Leu)
c.*168G>T (n.*168G>T)
c.1331G>T (p.Arg444Leu)
c.1307G>T (p.Arg436Leu)
c.1373G>T (p.Arg458Leu)
c.890G>T (p.Arg297Leu)
c.914G>T (p.Arg305Leu)
 ClinVar dbSNP
5g.162153275C>ACA447691932GABRG2c.1336C>A
c.1431C>A (p.Arg477=)
c.1394C>A
n.589C>A
c.1026C>A (p.Arg342=)
c.1050C>A (p.Arg350=)
c.*3932C>A (n.*3932C>A)
c.1212C>A
c.702C>A (p.Arg234=)
c.1311C>A (p.Arg437=)
c.1335C>A (p.Arg445=)
c.1998C>A (n.1998C>A)
c.*1516C>A (n.*1516C>A)
c.*535C>A (n.*535C>A)
c.1269C>A (p.Arg423=)
c.1245C>A (p.Arg415=)
n.609C>A
n.6282C>A
c.773C>A
c.1248C>A (p.Arg416=)
c.1404C>A (p.Arg468=)
c.1455C>A (p.Arg485=)
c.*913C>A (n.*913C>A)
c.1432C>A (n.1432C>A)
c.1326C>A (p.Arg442=)
c.*169C>A (n.*169C>A)
c.1332C>A (p.Arg444=)
c.1308C>A (p.Arg436=)
c.1374C>A (p.Arg458=)
c.891C>A (p.Arg297=)
c.915C>A (p.Arg305=)
5g.162153275C>GCA447691934GABRG2c.1336C>G
c.1431C>G (p.Arg477=)
c.1394C>G
n.589C>G
c.1026C>G (p.Arg342=)
c.1050C>G (p.Arg350=)
c.*3932C>G (n.*3932C>G)
c.1212C>G
c.702C>G (p.Arg234=)
c.1311C>G (p.Arg437=)
c.1335C>G (p.Arg445=)
c.1998C>G (n.1998C>G)
c.*1516C>G (n.*1516C>G)
c.*535C>G (n.*535C>G)
c.1269C>G (p.Arg423=)
c.1245C>G (p.Arg415=)
n.609C>G
n.6282C>G
c.773C>G
c.1248C>G (p.Arg416=)
c.1404C>G (p.Arg468=)
c.1455C>G (p.Arg485=)
c.*913C>G (n.*913C>G)
c.1432C>G (n.1432C>G)
c.1326C>G (p.Arg442=)
c.*169C>G (n.*169C>G)
c.1332C>G (p.Arg444=)
c.1308C>G (p.Arg436=)
c.1374C>G (p.Arg458=)
c.891C>G (p.Arg297=)
c.915C>G (p.Arg305=)
5g.162153275C>TCA447691937GABRG2c.1336C>T
c.1431C>T (p.Arg477=)
c.1394C>T
n.589C>T
c.1026C>T (p.Arg342=)
c.1050C>T (p.Arg350=)
c.*3932C>T (n.*3932C>T)
c.1212C>T
c.702C>T (p.Arg234=)
c.1311C>T (p.Arg437=)
c.1335C>T (p.Arg445=)
c.1998C>T (n.1998C>T)
c.*1516C>T (n.*1516C>T)
c.*535C>T (n.*535C>T)
c.1269C>T (p.Arg423=)
c.1245C>T (p.Arg415=)
n.609C>T
n.6282C>T
c.773C>T
c.1248C>T (p.Arg416=)
c.1404C>T (p.Arg468=)
c.1455C>T (p.Arg485=)
c.*913C>T (n.*913C>T)
c.1432C>T (n.1432C>T)
c.1326C>T (p.Arg442=)
c.*169C>T (n.*169C>T)
c.1332C>T (p.Arg444=)
c.1308C>T (p.Arg436=)
c.1374C>T (p.Arg458=)
c.891C>T (p.Arg297=)
c.915C>T (p.Arg305=)
 COSMIC
5g.162153275dupCA2676331012GABRG2c.1336dup
c.1431dup (p.Ile478HisfsTer20)
c.1394dup
n.589dup
c.1026dup (p.Ile343HisfsTer20)
c.1050dup (p.Ile351HisfsTer20)
c.*3932dup (n.*3932dup)
c.1212dup
c.702dup (p.Ile235HisfsTer20)
c.1311dup (p.Ile438HisfsTer20)
c.1335dup (p.Ile446HisfsTer20)
c.1998dup (n.1998dup)
c.*1516dup (n.*1516dup)
c.*535dup (n.*535dup)
c.1269dup (p.Ile424HisfsTer20)
c.1245dup (p.Ile416HisfsTer20)
n.609dup
n.6282dup
c.773dup
c.1248dup (p.Ile417HisfsTer20)
c.1404dup (p.Ile469HisfsTer20)
c.1455dup (p.Ile486HisfsTer20)
c.*913dup (n.*913dup)
c.1432dup (n.1432dup)
c.1326dup (p.Ile443HisfsTer20)
c.*169dup (n.*169dup)
c.1332dup (p.Ile445HisfsTer20)
c.1308dup (p.Ile437HisfsTer20)
c.1374dup (p.Ile459HisfsTer20)
c.891dup (p.Ile298HisfsTer20)
c.915dup (p.Ile306HisfsTer20)
 gnomAD v4
5g.162153276A=CA1596382178GABRG2c.1337A=
c.1432A= (p.Ile478=)
c.1395A=
n.590A=
c.1027A= (p.Ile343=)
c.1051A= (p.Ile351=)
c.*3933A= (n.*3933A=)
c.1213A=
c.703A= (p.Ile235=)
c.1312A= (p.Ile438=)
c.1336A= (p.Ile446=)
c.1999A= (n.1999A=)
c.*1517A= (n.*1517A=)
c.*536A= (n.*536A=)
c.1270A= (p.Ile424=)
c.1246A= (p.Ile416=)
n.610A=
n.6283A=
c.774A=
c.1249A= (p.Ile417=)
c.1405A= (p.Ile469=)
c.1456A= (p.Ile486=)
c.*914A= (n.*914A=)
c.1433A= (n.1433A=)
c.1327A= (p.Ile443=)
c.*170A= (n.*170A=)
c.1333A= (p.Ile445=)
c.1309A= (p.Ile437=)
c.1375A= (p.Ile459=)
c.892A= (p.Ile298=)
c.916A= (p.Ile306=)
5g.162153276A>CCA362183859GABRG2c.1337A>C
c.1432A>C (p.Ile478Leu)
c.1395A>C
n.590A>C
c.1027A>C (p.Ile343Leu)
c.1051A>C (p.Ile351Leu)
c.*3933A>C (n.*3933A>C)
c.1213A>C
c.703A>C (p.Ile235Leu)
c.1312A>C (p.Ile438Leu)
c.1336A>C (p.Ile446Leu)
c.1999A>C (n.1999A>C)
c.*1517A>C (n.*1517A>C)
c.*536A>C (n.*536A>C)
c.1270A>C (p.Ile424Leu)
c.1246A>C (p.Ile416Leu)
n.610A>C
n.6283A>C
c.774A>C
c.1249A>C (p.Ile417Leu)
c.1405A>C (p.Ile469Leu)
c.1456A>C (p.Ile486Leu)
c.*914A>C (n.*914A>C)
c.1433A>C (n.1433A>C)
c.1327A>C (p.Ile443Leu)
c.*170A>C (n.*170A>C)
c.1333A>C (p.Ile445Leu)
c.1309A>C (p.Ile437Leu)
c.1375A>C (p.Ile459Leu)
c.892A>C (p.Ile298Leu)
c.916A>C (p.Ile306Leu)
5g.162153276A>GCA3544993GABRG2c.1337A>G
c.1432A>G (p.Ile478Val)
c.1395A>G
n.590A>G
c.1027A>G (p.Ile343Val)
c.1051A>G (p.Ile351Val)
c.*3933A>G (n.*3933A>G)
c.1213A>G
c.703A>G (p.Ile235Val)
c.1312A>G (p.Ile438Val)
c.1336A>G (p.Ile446Val)
c.1999A>G (n.1999A>G)
c.*1517A>G (n.*1517A>G)
c.*536A>G (n.*536A>G)
c.1270A>G (p.Ile424Val)
c.1246A>G (p.Ile416Val)
n.610A>G
n.6283A>G
c.774A>G
c.1249A>G (p.Ile417Val)
c.1405A>G (p.Ile469Val)
c.1456A>G (p.Ile486Val)
c.*914A>G (n.*914A>G)
c.1433A>G (n.1433A>G)
c.1327A>G (p.Ile443Val)
c.*170A>G (n.*170A>G)
c.1333A>G (p.Ile445Val)
c.1309A>G (p.Ile437Val)
c.1375A>G (p.Ile459Val)
c.892A>G (p.Ile298Val)
c.916A>G (p.Ile306Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.162153276A>TCA362183861GABRG2c.1337A>T
c.1432A>T (p.Ile478Phe)
c.1395A>T
n.590A>T
c.1027A>T (p.Ile343Phe)
c.1051A>T (p.Ile351Phe)
c.*3933A>T (n.*3933A>T)
c.1213A>T
c.703A>T (p.Ile235Phe)
c.1312A>T (p.Ile438Phe)
c.1336A>T (p.Ile446Phe)
c.1999A>T (n.1999A>T)
c.*1517A>T (n.*1517A>T)
c.*536A>T (n.*536A>T)
c.1270A>T (p.Ile424Phe)
c.1246A>T (p.Ile416Phe)
n.610A>T
n.6283A>T
c.774A>T
c.1249A>T (p.Ile417Phe)
c.1405A>T (p.Ile469Phe)
c.1456A>T (p.Ile486Phe)
c.*914A>T (n.*914A>T)
c.1433A>T (n.1433A>T)
c.1327A>T (p.Ile443Phe)
c.*170A>T (n.*170A>T)
c.1333A>T (p.Ile445Phe)
c.1309A>T (p.Ile437Phe)
c.1375A>T (p.Ile459Phe)
c.892A>T (p.Ile298Phe)
c.916A>T (p.Ile306Phe)
5g.162153277T>ACA362183863GABRG2c.1338T>A
c.1433T>A (p.Ile478Asn)
c.1396T>A
n.591T>A
c.1028T>A (p.Ile343Asn)
c.1052T>A (p.Ile351Asn)
c.*3934T>A (n.*3934T>A)
c.1214T>A
c.704T>A (p.Ile235Asn)
c.1313T>A (p.Ile438Asn)
c.1337T>A (p.Ile446Asn)
c.2000T>A (n.2000T>A)
c.*1518T>A (n.*1518T>A)
c.*537T>A (n.*537T>A)
c.1271T>A (p.Ile424Asn)
c.1247T>A (p.Ile416Asn)
n.611T>A
n.6284T>A
c.775T>A
c.1250T>A (p.Ile417Asn)
c.1406T>A (p.Ile469Asn)
c.1457T>A (p.Ile486Asn)
c.*915T>A (n.*915T>A)
c.1434T>A (n.1434T>A)
c.1328T>A (p.Ile443Asn)
c.*171T>A (n.*171T>A)
c.1334T>A (p.Ile445Asn)
c.1310T>A (p.Ile437Asn)
c.1376T>A (p.Ile459Asn)
c.893T>A (p.Ile298Asn)
c.917T>A (p.Ile306Asn)
 ClinVar dbSNP
5g.162153277T>CCA362183865GABRG2c.1338T>C
c.1433T>C (p.Ile478Thr)
c.1396T>C
n.591T>C
c.1028T>C (p.Ile343Thr)
c.1052T>C (p.Ile351Thr)
c.*3934T>C (n.*3934T>C)
c.1214T>C
c.704T>C (p.Ile235Thr)
c.1313T>C (p.Ile438Thr)
c.1337T>C (p.Ile446Thr)
c.2000T>C (n.2000T>C)
c.*1518T>C (n.*1518T>C)
c.*537T>C (n.*537T>C)
c.1271T>C (p.Ile424Thr)
c.1247T>C (p.Ile416Thr)
n.611T>C
n.6284T>C
c.775T>C
c.1250T>C (p.Ile417Thr)
c.1406T>C (p.Ile469Thr)
c.1457T>C (p.Ile486Thr)
c.*915T>C (n.*915T>C)
c.1434T>C (n.1434T>C)
c.1328T>C (p.Ile443Thr)
c.*171T>C (n.*171T>C)
c.1334T>C (p.Ile445Thr)
c.1310T>C (p.Ile437Thr)
c.1376T>C (p.Ile459Thr)
c.893T>C (p.Ile298Thr)
c.917T>C (p.Ile306Thr)
5g.162153277T>GCA362183867GABRG2c.1338T>G
c.1433T>G (p.Ile478Ser)
c.1396T>G
n.591T>G
c.1028T>G (p.Ile343Ser)
c.1052T>G (p.Ile351Ser)
c.*3934T>G (n.*3934T>G)
c.1214T>G
c.704T>G (p.Ile235Ser)
c.1313T>G (p.Ile438Ser)
c.1337T>G (p.Ile446Ser)
c.2000T>G (n.2000T>G)
c.*1518T>G (n.*1518T>G)
c.*537T>G (n.*537T>G)
c.1271T>G (p.Ile424Ser)
c.1247T>G (p.Ile416Ser)
n.611T>G
n.6284T>G
c.775T>G
c.1250T>G (p.Ile417Ser)
c.1406T>G (p.Ile469Ser)
c.1457T>G (p.Ile486Ser)
c.*915T>G (n.*915T>G)
c.1434T>G (n.1434T>G)
c.1328T>G (p.Ile443Ser)
c.*171T>G (n.*171T>G)
c.1334T>G (p.Ile445Ser)
c.1310T>G (p.Ile437Ser)
c.1376T>G (p.Ile459Ser)
c.893T>G (p.Ile298Ser)
c.917T>G (p.Ile306Ser)
5g.162153278T>ACA447691942GABRG2c.1339T>A
c.1434T>A (p.Ile478=)
c.1397T>A
n.592T>A
c.1029T>A (p.Ile343=)
c.1053T>A (p.Ile351=)
c.*3935T>A (n.*3935T>A)
c.1215T>A
c.705T>A (p.Ile235=)
c.1314T>A (p.Ile438=)
c.1338T>A (p.Ile446=)
c.2001T>A (n.2001T>A)
c.*1519T>A (n.*1519T>A)
c.*538T>A (n.*538T>A)
c.1272T>A (p.Ile424=)
c.1248T>A (p.Ile416=)
n.612T>A
n.6285T>A
c.776T>A
c.1251T>A (p.Ile417=)
c.1407T>A (p.Ile469=)
c.1458T>A (p.Ile486=)
c.*916T>A (n.*916T>A)
c.1435T>A (n.1435T>A)
c.1329T>A (p.Ile443=)
c.*172T>A (n.*172T>A)
c.1335T>A (p.Ile445=)
c.1311T>A (p.Ile437=)
c.1377T>A (p.Ile459=)
c.894T>A (p.Ile298=)
c.918T>A (p.Ile306=)
5g.162153278T>CCA131117675GABRG2c.1339T>C
c.1434T>C (p.Ile478=)
c.1397T>C
n.592T>C
c.1029T>C (p.Ile343=)
c.1053T>C (p.Ile351=)
c.*3935T>C (n.*3935T>C)
c.1215T>C
c.705T>C (p.Ile235=)
c.1314T>C (p.Ile438=)
c.1338T>C (p.Ile446=)
c.2001T>C (n.2001T>C)
c.*1519T>C (n.*1519T>C)
c.*538T>C (n.*538T>C)
c.1272T>C (p.Ile424=)
c.1248T>C (p.Ile416=)
n.612T>C
n.6285T>C
c.776T>C
c.1251T>C (p.Ile417=)
c.1407T>C (p.Ile469=)
c.1458T>C (p.Ile486=)
c.*916T>C (n.*916T>C)
c.1435T>C (n.1435T>C)
c.1329T>C (p.Ile443=)
c.*172T>C (n.*172T>C)
c.1335T>C (p.Ile445=)
c.1311T>C (p.Ile437=)
c.1377T>C (p.Ile459=)
c.894T>C (p.Ile298=)
c.918T>C (p.Ile306=)
 dbSNP
5g.162153278T>GCA362183868GABRG2c.1339T>G
c.1434T>G (p.Ile478Met)
c.1397T>G
n.592T>G
c.1029T>G (p.Ile343Met)
c.1053T>G (p.Ile351Met)
c.*3935T>G (n.*3935T>G)
c.1215T>G
c.705T>G (p.Ile235Met)
c.1314T>G (p.Ile438Met)
c.1338T>G (p.Ile446Met)
c.2001T>G (n.2001T>G)
c.*1519T>G (n.*1519T>G)
c.*538T>G (n.*538T>G)
c.1272T>G (p.Ile424Met)
c.1248T>G (p.Ile416Met)
n.612T>G
n.6285T>G
c.776T>G
c.1251T>G (p.Ile417Met)
c.1407T>G (p.Ile469Met)
c.1458T>G (p.Ile486Met)
c.*916T>G (n.*916T>G)
c.1435T>G (n.1435T>G)
c.1329T>G (p.Ile443Met)
c.*172T>G (n.*172T>G)
c.1335T>G (p.Ile445Met)
c.1311T>G (p.Ile437Met)
c.1377T>G (p.Ile459Met)
c.894T>G (p.Ile298Met)
c.918T>G (p.Ile306Met)
5g.162153278T=CA1596382179GABRG2c.1339T=
c.1434T= (p.Ile478=)
c.1397T=
n.592T=
c.1029T= (p.Ile343=)
c.1053T= (p.Ile351=)
c.*3935T= (n.*3935T=)
c.1215T=
c.705T= (p.Ile235=)
c.1314T= (p.Ile438=)
c.1338T= (p.Ile446=)
c.2001T= (n.2001T=)
c.*1519T= (n.*1519T=)
c.*538T= (n.*538T=)
c.1272T= (p.Ile424=)
c.1248T= (p.Ile416=)
n.612T=
n.6285T=
c.776T=
c.1251T= (p.Ile417=)
c.1407T= (p.Ile469=)
c.1458T= (p.Ile486=)
c.*916T= (n.*916T=)
c.1435T= (n.1435T=)
c.1329T= (p.Ile443=)
c.*172T= (n.*172T=)
c.1335T= (p.Ile445=)
c.1311T= (p.Ile437=)
c.1377T= (p.Ile459=)
c.894T= (p.Ile298=)
c.918T= (p.Ile306=)
5g.162153279G>ACA362183872GABRG2c.1340G>A
c.1435G>A (p.Ala479Thr)
c.1398G>A
n.593G>A
c.1030G>A (p.Ala344Thr)
c.1054G>A (p.Ala352Thr)
c.*3936G>A (n.*3936G>A)
c.1216G>A
c.706G>A (p.Ala236Thr)
c.1315G>A (p.Ala439Thr)
c.1339G>A (p.Ala447Thr)
c.2002G>A (n.2002G>A)
c.*1520G>A (n.*1520G>A)
c.*539G>A (n.*539G>A)
c.1273G>A (p.Ala425Thr)
c.1249G>A (p.Ala417Thr)
n.613G>A
n.6286G>A
c.777G>A
c.1252G>A (p.Ala418Thr)
c.1408G>A (p.Ala470Thr)
c.1459G>A (p.Ala487Thr)
c.*917G>A (n.*917G>A)
c.1436G>A (n.1436G>A)
c.1330G>A (p.Ala444Thr)
c.*173G>A (n.*173G>A)
c.1336G>A (p.Ala446Thr)
c.1312G>A (p.Ala438Thr)
c.1378G>A (p.Ala460Thr)
c.895G>A (p.Ala299Thr)
c.919G>A (p.Ala307Thr)
5g.162153279G>CCA362183871GABRG2c.1340G>C
c.1435G>C (p.Ala479Pro)
c.1398G>C
n.593G>C
c.1030G>C (p.Ala344Pro)
c.1054G>C (p.Ala352Pro)
c.*3936G>C (n.*3936G>C)
c.1216G>C
c.706G>C (p.Ala236Pro)
c.1315G>C (p.Ala439Pro)
c.1339G>C (p.Ala447Pro)
c.2002G>C (n.2002G>C)
c.*1520G>C (n.*1520G>C)
c.*539G>C (n.*539G>C)
c.1273G>C (p.Ala425Pro)
c.1249G>C (p.Ala417Pro)
n.613G>C
n.6286G>C
c.777G>C
c.1252G>C (p.Ala418Pro)
c.1408G>C (p.Ala470Pro)
c.1459G>C (p.Ala487Pro)
c.*917G>C (n.*917G>C)
c.1436G>C (n.1436G>C)
c.1330G>C (p.Ala444Pro)
c.*173G>C (n.*173G>C)
c.1336G>C (p.Ala446Pro)
c.1312G>C (p.Ala438Pro)
c.1378G>C (p.Ala460Pro)
c.895G>C (p.Ala299Pro)
c.919G>C (p.Ala307Pro)
5g.162153279G>TCA362183869GABRG2c.1340G>T
c.1435G>T (p.Ala479Ser)
c.1398G>T
n.593G>T
c.1030G>T (p.Ala344Ser)
c.1054G>T (p.Ala352Ser)
c.*3936G>T (n.*3936G>T)
c.1216G>T
c.706G>T (p.Ala236Ser)
c.1315G>T (p.Ala439Ser)
c.1339G>T (p.Ala447Ser)
c.2002G>T (n.2002G>T)
c.*1520G>T (n.*1520G>T)
c.*539G>T (n.*539G>T)
c.1273G>T (p.Ala425Ser)
c.1249G>T (p.Ala417Ser)
n.613G>T
n.6286G>T
c.777G>T
c.1252G>T (p.Ala418Ser)
c.1408G>T (p.Ala470Ser)
c.1459G>T (p.Ala487Ser)
c.*917G>T (n.*917G>T)
c.1436G>T (n.1436G>T)
c.1330G>T (p.Ala444Ser)
c.*173G>T (n.*173G>T)
c.1336G>T (p.Ala446Ser)
c.1312G>T (p.Ala438Ser)
c.1378G>T (p.Ala460Ser)
c.895G>T (p.Ala299Ser)
c.919G>T (p.Ala307Ser)
5g.162153280C>ACA362183874GABRG2c.1341C>A
c.1436C>A (p.Ala479Asp)
c.1399C>A
n.594C>A
c.1031C>A (p.Ala344Asp)
c.1055C>A (p.Ala352Asp)
c.*3937C>A (n.*3937C>A)
c.1217C>A
c.707C>A (p.Ala236Asp)
c.1316C>A (p.Ala439Asp)
c.1340C>A (p.Ala447Asp)
c.2003C>A (n.2003C>A)
c.*1521C>A (n.*1521C>A)
c.*540C>A (n.*540C>A)
c.1274C>A (p.Ala425Asp)
c.1250C>A (p.Ala417Asp)
n.614C>A
n.6287C>A
c.778C>A
c.1253C>A (p.Ala418Asp)
c.1409C>A (p.Ala470Asp)
c.1460C>A (p.Ala487Asp)
c.*918C>A (n.*918C>A)
c.1437C>A (n.1437C>A)
c.1331C>A (p.Ala444Asp)
c.*174C>A (n.*174C>A)
c.1337C>A (p.Ala446Asp)
c.1313C>A (p.Ala438Asp)
c.1379C>A (p.Ala460Asp)
c.896C>A (p.Ala299Asp)
c.920C>A (p.Ala307Asp)
5g.162153280C>GCA362183876GABRG2c.1341C>G
c.1436C>G (p.Ala479Gly)
c.1399C>G
n.594C>G
c.1031C>G (p.Ala344Gly)
c.1055C>G (p.Ala352Gly)
c.*3937C>G (n.*3937C>G)
c.1217C>G
c.707C>G (p.Ala236Gly)
c.1316C>G (p.Ala439Gly)
c.1340C>G (p.Ala447Gly)
c.2003C>G (n.2003C>G)
c.*1521C>G (n.*1521C>G)
c.*540C>G (n.*540C>G)
c.1274C>G (p.Ala425Gly)
c.1250C>G (p.Ala417Gly)
n.614C>G
n.6287C>G
c.778C>G
c.1253C>G (p.Ala418Gly)
c.1409C>G (p.Ala470Gly)
c.1460C>G (p.Ala487Gly)
c.*918C>G (n.*918C>G)
c.1437C>G (n.1437C>G)
c.1331C>G (p.Ala444Gly)
c.*174C>G (n.*174C>G)
c.1337C>G (p.Ala446Gly)
c.1313C>G (p.Ala438Gly)
c.1379C>G (p.Ala460Gly)
c.896C>G (p.Ala299Gly)
c.920C>G (p.Ala307Gly)
5g.162153280C>TCA362183877GABRG2c.1341C>T
c.1436C>T (p.Ala479Val)
c.1399C>T
n.594C>T
c.1031C>T (p.Ala344Val)
c.1055C>T (p.Ala352Val)
c.*3937C>T (n.*3937C>T)
c.1217C>T
c.707C>T (p.Ala236Val)
c.1316C>T (p.Ala439Val)
c.1340C>T (p.Ala447Val)
c.2003C>T (n.2003C>T)
c.*1521C>T (n.*1521C>T)
c.*540C>T (n.*540C>T)
c.1274C>T (p.Ala425Val)
c.1250C>T (p.Ala417Val)
n.614C>T
n.6287C>T
c.778C>T
c.1253C>T (p.Ala418Val)
c.1409C>T (p.Ala470Val)
c.1460C>T (p.Ala487Val)
c.*918C>T (n.*918C>T)
c.1437C>T (n.1437C>T)
c.1331C>T (p.Ala444Val)
c.*174C>T (n.*174C>T)
c.1337C>T (p.Ala446Val)
c.1313C>T (p.Ala438Val)
c.1379C>T (p.Ala460Val)
c.896C>T (p.Ala299Val)
c.920C>T (p.Ala307Val)
5g.162153281C>ACA447691945GABRG2c.1342C>A
c.1437C>A (p.Ala479=)
c.1400C>A
n.595C>A
c.1032C>A (p.Ala344=)
c.1056C>A (p.Ala352=)
c.*3938C>A (n.*3938C>A)
c.1218C>A
c.708C>A (p.Ala236=)
c.1317C>A (p.Ala439=)
c.1341C>A (p.Ala447=)
c.2004C>A (n.2004C>A)
c.*1522C>A (n.*1522C>A)
c.*541C>A (n.*541C>A)
c.1275C>A (p.Ala425=)
c.1251C>A (p.Ala417=)
n.615C>A
n.6288C>A
c.779C>A
c.1254C>A (p.Ala418=)
c.1410C>A (p.Ala470=)
c.1461C>A (p.Ala487=)
c.*919C>A (n.*919C>A)
c.1438C>A (n.1438C>A)
c.1332C>A (p.Ala444=)
c.*175C>A (n.*175C>A)
c.1338C>A (p.Ala446=)
c.1314C>A (p.Ala438=)
c.1380C>A (p.Ala460=)
c.897C>A (p.Ala299=)
c.921C>A (p.Ala307=)
5g.162153281C>GCA447691947GABRG2c.1342C>G
c.1437C>G (p.Ala479=)
c.1400C>G
n.595C>G
c.1032C>G (p.Ala344=)
c.1056C>G (p.Ala352=)
c.*3938C>G (n.*3938C>G)
c.1218C>G
c.708C>G (p.Ala236=)
c.1317C>G (p.Ala439=)
c.1341C>G (p.Ala447=)
c.2004C>G (n.2004C>G)
c.*1522C>G (n.*1522C>G)
c.*541C>G (n.*541C>G)
c.1275C>G (p.Ala425=)
c.1251C>G (p.Ala417=)
n.615C>G
n.6288C>G
c.779C>G
c.1254C>G (p.Ala418=)
c.1410C>G (p.Ala470=)
c.1461C>G (p.Ala487=)
c.*919C>G (n.*919C>G)
c.1438C>G (n.1438C>G)
c.1332C>G (p.Ala444=)
c.*175C>G (n.*175C>G)
c.1338C>G (p.Ala446=)
c.1314C>G (p.Ala438=)
c.1380C>G (p.Ala460=)
c.897C>G (p.Ala299=)
c.921C>G (p.Ala307=)
5g.162153281C>TCA447691948GABRG2c.1342C>T
c.1437C>T (p.Ala479=)
c.1400C>T
n.595C>T
c.1032C>T (p.Ala344=)
c.1056C>T (p.Ala352=)
c.*3938C>T (n.*3938C>T)
c.1218C>T
c.708C>T (p.Ala236=)
c.1317C>T (p.Ala439=)
c.1341C>T (p.Ala447=)
c.2004C>T (n.2004C>T)
c.*1522C>T (n.*1522C>T)
c.*541C>T (n.*541C>T)
c.1275C>T (p.Ala425=)
c.1251C>T (p.Ala417=)
n.615C>T
n.6288C>T
c.779C>T
c.1254C>T (p.Ala418=)
c.1410C>T (p.Ala470=)
c.1461C>T (p.Ala487=)
c.*919C>T (n.*919C>T)
c.1438C>T (n.1438C>T)
c.1332C>T (p.Ala444=)
c.*175C>T (n.*175C>T)
c.1338C>T (p.Ala446=)
c.1314C>T (p.Ala438=)
c.1380C>T (p.Ala460=)
c.897C>T (p.Ala299=)
c.921C>T (p.Ala307=)
 gnomAD v4
5g.162153282A>CCA362183879GABRG2c.1343A>C
c.1438A>C (p.Lys480Gln)
c.1401A>C
n.596A>C
c.1033A>C (p.Lys345Gln)
c.1057A>C (p.Lys353Gln)
c.*3939A>C (n.*3939A>C)
c.1219A>C
c.709A>C (p.Lys237Gln)
c.1318A>C (p.Lys440Gln)
c.1342A>C (p.Lys448Gln)
c.2005A>C (n.2005A>C)
c.*1523A>C (n.*1523A>C)
c.*542A>C (n.*542A>C)
c.1276A>C (p.Lys426Gln)
c.1252A>C (p.Lys418Gln)
n.616A>C
n.6289A>C
c.780A>C
c.1255A>C (p.Lys419Gln)
c.1411A>C (p.Lys471Gln)
c.1462A>C (p.Lys488Gln)
c.*920A>C (n.*920A>C)
c.1439A>C (n.1439A>C)
c.1333A>C (p.Lys445Gln)
c.*176A>C (n.*176A>C)
c.1339A>C (p.Lys447Gln)
c.1315A>C (p.Lys439Gln)
c.1381A>C (p.Lys461Gln)
c.898A>C (p.Lys300Gln)
c.922A>C (p.Lys308Gln)
5g.162153282A>GCA362183881GABRG2c.1343A>G
c.1438A>G (p.Lys480Glu)
c.1401A>G
n.596A>G
c.1033A>G (p.Lys345Glu)
c.1057A>G (p.Lys353Glu)
c.*3939A>G (n.*3939A>G)
c.1219A>G
c.709A>G (p.Lys237Glu)
c.1318A>G (p.Lys440Glu)
c.1342A>G (p.Lys448Glu)
c.2005A>G (n.2005A>G)
c.*1523A>G (n.*1523A>G)
c.*542A>G (n.*542A>G)
c.1276A>G (p.Lys426Glu)
c.1252A>G (p.Lys418Glu)
n.616A>G
n.6289A>G
c.780A>G
c.1255A>G (p.Lys419Glu)
c.1411A>G (p.Lys471Glu)
c.1462A>G (p.Lys488Glu)
c.*920A>G (n.*920A>G)
c.1439A>G (n.1439A>G)
c.1333A>G (p.Lys445Glu)
c.*176A>G (n.*176A>G)
c.1339A>G (p.Lys447Glu)
c.1315A>G (p.Lys439Glu)
c.1381A>G (p.Lys461Glu)
c.898A>G (p.Lys300Glu)
c.922A>G (p.Lys308Glu)
5g.162153282A>TCA362183883GABRG2c.1343A>T
c.1438A>T (p.Lys480Ter)
c.1401A>T
n.596A>T
c.1033A>T (p.Lys345Ter)
c.1057A>T (p.Lys353Ter)
c.*3939A>T (n.*3939A>T)
c.1219A>T
c.709A>T (p.Lys237Ter)
c.1318A>T (p.Lys440Ter)
c.1342A>T (p.Lys448Ter)
c.2005A>T (n.2005A>T)
c.*1523A>T (n.*1523A>T)
c.*542A>T (n.*542A>T)
c.1276A>T (p.Lys426Ter)
c.1252A>T (p.Lys418Ter)
n.616A>T
n.6289A>T
c.780A>T
c.1255A>T (p.Lys419Ter)
c.1411A>T (p.Lys471Ter)
c.1462A>T (p.Lys488Ter)
c.*920A>T (n.*920A>T)
c.1439A>T (n.1439A>T)
c.1333A>T (p.Lys445Ter)
c.*176A>T (n.*176A>T)
c.1339A>T (p.Lys447Ter)
c.1315A>T (p.Lys439Ter)
c.1381A>T (p.Lys461Ter)
c.898A>T (p.Lys300Ter)
c.922A>T (p.Lys308Ter)
5g.162153283A=CA1596382182GABRG2c.1344A=
c.1439A= (p.Lys480=)
c.1402A=
n.597A=
c.1034A= (p.Lys345=)
c.1058A= (p.Lys353=)
c.*3940A= (n.*3940A=)
c.1220A=
c.710A= (p.Lys237=)
c.1319A= (p.Lys440=)
c.1343A= (p.Lys448=)
c.2006A= (n.2006A=)
c.*1524A= (n.*1524A=)
c.*543A= (n.*543A=)
c.1277A= (p.Lys426=)
c.1253A= (p.Lys418=)
n.617A=
n.6290A=
c.781A=
c.1256A= (p.Lys419=)
c.1412A= (p.Lys471=)
c.1463A= (p.Lys488=)
c.*921A= (n.*921A=)
c.1440A= (n.1440A=)
c.1334A= (p.Lys445=)
c.*177A= (n.*177A=)
c.1340A= (p.Lys447=)
c.1316A= (p.Lys439=)
c.1382A= (p.Lys461=)
c.899A= (p.Lys300=)
c.923A= (p.Lys308=)
5g.162153283A>CCA362183884GABRG2c.1344A>C
c.1439A>C (p.Lys480Thr)
c.1402A>C
n.597A>C
c.1034A>C (p.Lys345Thr)
c.1058A>C (p.Lys353Thr)
c.*3940A>C (n.*3940A>C)
c.1220A>C
c.710A>C (p.Lys237Thr)
c.1319A>C (p.Lys440Thr)
c.1343A>C (p.Lys448Thr)
c.2006A>C (n.2006A>C)
c.*1524A>C (n.*1524A>C)
c.*543A>C (n.*543A>C)
c.1277A>C (p.Lys426Thr)
c.1253A>C (p.Lys418Thr)
n.617A>C
n.6290A>C
c.781A>C
c.1256A>C (p.Lys419Thr)
c.1412A>C (p.Lys471Thr)
c.1463A>C (p.Lys488Thr)
c.*921A>C (n.*921A>C)
c.1440A>C (n.1440A>C)
c.1334A>C (p.Lys445Thr)
c.*177A>C (n.*177A>C)
c.1340A>C (p.Lys447Thr)
c.1316A>C (p.Lys439Thr)
c.1382A>C (p.Lys461Thr)
c.899A>C (p.Lys300Thr)
c.923A>C (p.Lys308Thr)
5g.162153283A>GCA131117676GABRG2c.1344A>G
c.1439A>G (p.Lys480Arg)
c.1402A>G
n.597A>G
c.1034A>G (p.Lys345Arg)
c.1058A>G (p.Lys353Arg)
c.*3940A>G (n.*3940A>G)
c.1220A>G
c.710A>G (p.Lys237Arg)
c.1319A>G (p.Lys440Arg)
c.1343A>G (p.Lys448Arg)
c.2006A>G (n.2006A>G)
c.*1524A>G (n.*1524A>G)
c.*543A>G (n.*543A>G)
c.1277A>G (p.Lys426Arg)
c.1253A>G (p.Lys418Arg)
n.617A>G
n.6290A>G
c.781A>G
c.1256A>G (p.Lys419Arg)
c.1412A>G (p.Lys471Arg)
c.1463A>G (p.Lys488Arg)
c.*921A>G (n.*921A>G)
c.1440A>G (n.1440A>G)
c.1334A>G (p.Lys445Arg)
c.*177A>G (n.*177A>G)
c.1340A>G (p.Lys447Arg)
c.1316A>G (p.Lys439Arg)
c.1382A>G (p.Lys461Arg)
c.899A>G (p.Lys300Arg)
c.923A>G (p.Lys308Arg)
 dbSNP gnomAD v4
5g.162153283A>TCA362183885GABRG2c.1344A>T
c.1439A>T (p.Lys480Ile)
c.1402A>T
n.597A>T
c.1034A>T (p.Lys345Ile)
c.1058A>T (p.Lys353Ile)
c.*3940A>T (n.*3940A>T)
c.1220A>T
c.710A>T (p.Lys237Ile)
c.1319A>T (p.Lys440Ile)
c.1343A>T (p.Lys448Ile)
c.2006A>T (n.2006A>T)
c.*1524A>T (n.*1524A>T)
c.*543A>T (n.*543A>T)
c.1277A>T (p.Lys426Ile)
c.1253A>T (p.Lys418Ile)
n.617A>T
n.6290A>T
c.781A>T
c.1256A>T (p.Lys419Ile)
c.1412A>T (p.Lys471Ile)
c.1463A>T (p.Lys488Ile)
c.*921A>T (n.*921A>T)
c.1440A>T (n.1440A>T)
c.1334A>T (p.Lys445Ile)
c.*177A>T (n.*177A>T)
c.1340A>T (p.Lys447Ile)
c.1316A>T (p.Lys439Ile)
c.1382A>T (p.Lys461Ile)
c.899A>T (p.Lys300Ile)
c.923A>T (p.Lys308Ile)
5g.162153284A>CCA362183886GABRG2c.1345A>C
c.1440A>C (p.Lys480Asn)
c.1403A>C
n.598A>C
c.1035A>C (p.Lys345Asn)
c.1059A>C (p.Lys353Asn)
c.*3941A>C (n.*3941A>C)
c.1221A>C
c.711A>C (p.Lys237Asn)
c.1320A>C (p.Lys440Asn)
c.1344A>C (p.Lys448Asn)
c.2007A>C (n.2007A>C)
c.*1525A>C (n.*1525A>C)
c.*544A>C (n.*544A>C)
c.1278A>C (p.Lys426Asn)
c.1254A>C (p.Lys418Asn)
n.618A>C
n.6291A>C
c.782A>C
c.1257A>C (p.Lys419Asn)
c.1413A>C (p.Lys471Asn)
c.1464A>C (p.Lys488Asn)
c.*922A>C (n.*922A>C)
c.1441A>C (n.1441A>C)
c.1335A>C (p.Lys445Asn)
c.*178A>C (n.*178A>C)
c.1341A>C (p.Lys447Asn)
c.1317A>C (p.Lys439Asn)
c.1383A>C (p.Lys461Asn)
c.900A>C (p.Lys300Asn)
c.924A>C (p.Lys308Asn)
5g.162153284A>GCA447691950GABRG2c.1345A>G
c.1440A>G (p.Lys480=)
c.1403A>G
n.598A>G
c.1035A>G (p.Lys345=)
c.1059A>G (p.Lys353=)
c.*3941A>G (n.*3941A>G)
c.1221A>G
c.711A>G (p.Lys237=)
c.1320A>G (p.Lys440=)
c.1344A>G (p.Lys448=)
c.2007A>G (n.2007A>G)
c.*1525A>G (n.*1525A>G)
c.*544A>G (n.*544A>G)
c.1278A>G (p.Lys426=)
c.1254A>G (p.Lys418=)
n.618A>G
n.6291A>G
c.782A>G
c.1257A>G (p.Lys419=)
c.1413A>G (p.Lys471=)
c.1464A>G (p.Lys488=)
c.*922A>G (n.*922A>G)
c.1441A>G (n.1441A>G)
c.1335A>G (p.Lys445=)
c.*178A>G (n.*178A>G)
c.1341A>G (p.Lys447=)
c.1317A>G (p.Lys439=)
c.1383A>G (p.Lys461=)
c.900A>G (p.Lys300=)
c.924A>G (p.Lys308=)
5g.162153284A>TCA362183888GABRG2c.1345A>T
c.1440A>T (p.Lys480Asn)
c.1403A>T
n.598A>T
c.1035A>T (p.Lys345Asn)
c.1059A>T (p.Lys353Asn)
c.*3941A>T (n.*3941A>T)
c.1221A>T
c.711A>T (p.Lys237Asn)
c.1320A>T (p.Lys440Asn)
c.1344A>T (p.Lys448Asn)
c.2007A>T (n.2007A>T)
c.*1525A>T (n.*1525A>T)
c.*544A>T (n.*544A>T)
c.1278A>T (p.Lys426Asn)
c.1254A>T (p.Lys418Asn)
n.618A>T
n.6291A>T
c.782A>T
c.1257A>T (p.Lys419Asn)
c.1413A>T (p.Lys471Asn)
c.1464A>T (p.Lys488Asn)
c.*922A>T (n.*922A>T)
c.1441A>T (n.1441A>T)
c.1335A>T (p.Lys445Asn)
c.*178A>T (n.*178A>T)
c.1341A>T (p.Lys447Asn)
c.1317A>T (p.Lys439Asn)
c.1383A>T (p.Lys461Asn)
c.900A>T (p.Lys300Asn)
c.924A>T (p.Lys308Asn)
5g.162153285A>CCA362183890GABRG2c.1346A>C
c.1441A>C (p.Met481Leu)
c.1404A>C
n.599A>C
c.1036A>C (p.Met346Leu)
c.1060A>C (p.Met354Leu)
c.*3942A>C (n.*3942A>C)
c.1222A>C
c.712A>C (p.Met238Leu)
c.1321A>C (p.Met441Leu)
c.1345A>C (p.Met449Leu)
c.2008A>C (n.2008A>C)
c.*1526A>C (n.*1526A>C)
c.*545A>C (n.*545A>C)
c.1279A>C (p.Met427Leu)
c.1255A>C (p.Met419Leu)
n.619A>C
n.6292A>C
c.783A>C
c.1258A>C (p.Met420Leu)
c.1414A>C (p.Met472Leu)
c.1465A>C (p.Met489Leu)
c.*923A>C (n.*923A>C)
c.1442A>C (n.1442A>C)
c.1336A>C (p.Met446Leu)
c.*179A>C (n.*179A>C)
c.1342A>C (p.Met448Leu)
c.1318A>C (p.Met440Leu)
c.1384A>C (p.Met462Leu)
c.901A>C (p.Met301Leu)
c.925A>C (p.Met309Leu)
5g.162153285A>GCA362183892GABRG2c.1346A>G
c.1441A>G (p.Met481Val)
c.1404A>G
n.599A>G
c.1036A>G (p.Met346Val)
c.1060A>G (p.Met354Val)
c.*3942A>G (n.*3942A>G)
c.1222A>G
c.712A>G (p.Met238Val)
c.1321A>G (p.Met441Val)
c.1345A>G (p.Met449Val)
c.2008A>G (n.2008A>G)
c.*1526A>G (n.*1526A>G)
c.*545A>G (n.*545A>G)
c.1279A>G (p.Met427Val)
c.1255A>G (p.Met419Val)
n.619A>G
n.6292A>G
c.783A>G
c.1258A>G (p.Met420Val)
c.1414A>G (p.Met472Val)
c.1465A>G (p.Met489Val)
c.*923A>G (n.*923A>G)
c.1442A>G (n.1442A>G)
c.1336A>G (p.Met446Val)
c.*179A>G (n.*179A>G)
c.1342A>G (p.Met448Val)
c.1318A>G (p.Met440Val)
c.1384A>G (p.Met462Val)
c.901A>G (p.Met301Val)
c.925A>G (p.Met309Val)
5g.162153285A>TCA362183894GABRG2c.1346A>T
c.1441A>T (p.Met481Leu)
c.1404A>T
n.599A>T
c.1036A>T (p.Met346Leu)
c.1060A>T (p.Met354Leu)
c.*3942A>T (n.*3942A>T)
c.1222A>T
c.712A>T (p.Met238Leu)
c.1321A>T (p.Met441Leu)
c.1345A>T (p.Met449Leu)
c.2008A>T (n.2008A>T)
c.*1526A>T (n.*1526A>T)
c.*545A>T (n.*545A>T)
c.1279A>T (p.Met427Leu)
c.1255A>T (p.Met419Leu)
n.619A>T
n.6292A>T
c.783A>T
c.1258A>T (p.Met420Leu)
c.1414A>T (p.Met472Leu)
c.1465A>T (p.Met489Leu)
c.*923A>T (n.*923A>T)
c.1442A>T (n.1442A>T)
c.1336A>T (p.Met446Leu)
c.*179A>T (n.*179A>T)
c.1342A>T (p.Met448Leu)
c.1318A>T (p.Met440Leu)
c.1384A>T (p.Met462Leu)
c.901A>T (p.Met301Leu)
c.925A>T (p.Met309Leu)
 gnomAD v4
5g.162153286T>ACA362183898GABRG2c.1347T>A
c.1442T>A (p.Met481Lys)
c.1405T>A
n.600T>A
c.1037T>A (p.Met346Lys)
c.1061T>A (p.Met354Lys)
c.*3943T>A (n.*3943T>A)
c.1223T>A
c.713T>A (p.Met238Lys)
c.1322T>A (p.Met441Lys)
c.1346T>A (p.Met449Lys)
c.2009T>A (n.2009T>A)
c.*1527T>A (n.*1527T>A)
c.*546T>A (n.*546T>A)
c.1280T>A (p.Met427Lys)
c.1256T>A (p.Met419Lys)
n.620T>A
n.6293T>A
c.784T>A
c.1259T>A (p.Met420Lys)
c.1415T>A (p.Met472Lys)
c.1466T>A (p.Met489Lys)
c.*924T>A (n.*924T>A)
c.1443T>A (n.1443T>A)
c.1337T>A (p.Met446Lys)
c.*180T>A (n.*180T>A)
c.1343T>A (p.Met448Lys)
c.1319T>A (p.Met440Lys)
c.1385T>A (p.Met462Lys)
c.902T>A (p.Met301Lys)
c.926T>A (p.Met309Lys)
 ClinVar dbSNP
5g.162153286T>CCA362183900GABRG2c.1347T>C
c.1442T>C (p.Met481Thr)
c.1405T>C
n.600T>C
c.1037T>C (p.Met346Thr)
c.1061T>C (p.Met354Thr)
c.*3943T>C (n.*3943T>C)
c.1223T>C
c.713T>C (p.Met238Thr)
c.1322T>C (p.Met441Thr)
c.1346T>C (p.Met449Thr)
c.2009T>C (n.2009T>C)
c.*1527T>C (n.*1527T>C)
c.*546T>C (n.*546T>C)
c.1280T>C (p.Met427Thr)
c.1256T>C (p.Met419Thr)
n.620T>C
n.6293T>C
c.784T>C
c.1259T>C (p.Met420Thr)
c.1415T>C (p.Met472Thr)
c.1466T>C (p.Met489Thr)
c.*924T>C (n.*924T>C)
c.1443T>C (n.1443T>C)
c.1337T>C (p.Met446Thr)
c.*180T>C (n.*180T>C)
c.1343T>C (p.Met448Thr)
c.1319T>C (p.Met440Thr)
c.1385T>C (p.Met462Thr)
c.902T>C (p.Met301Thr)
c.926T>C (p.Met309Thr)
5g.162153286T>GCA362183896GABRG2c.1347T>G
c.1442T>G (p.Met481Arg)
c.1405T>G
n.600T>G
c.1037T>G (p.Met346Arg)
c.1061T>G (p.Met354Arg)
c.*3943T>G (n.*3943T>G)
c.1223T>G
c.713T>G (p.Met238Arg)
c.1322T>G (p.Met441Arg)
c.1346T>G (p.Met449Arg)
c.2009T>G (n.2009T>G)
c.*1527T>G (n.*1527T>G)
c.*546T>G (n.*546T>G)
c.1280T>G (p.Met427Arg)
c.1256T>G (p.Met419Arg)
n.620T>G
n.6293T>G
c.784T>G
c.1259T>G (p.Met420Arg)
c.1415T>G (p.Met472Arg)
c.1466T>G (p.Met489Arg)
c.*924T>G (n.*924T>G)
c.1443T>G (n.1443T>G)
c.1337T>G (p.Met446Arg)
c.*180T>G (n.*180T>G)
c.1343T>G (p.Met448Arg)
c.1319T>G (p.Met440Arg)
c.1385T>G (p.Met462Arg)
c.902T>G (p.Met301Arg)
c.926T>G (p.Met309Arg)
5g.162153287G>ACA362183903GABRG2c.1348G>A
c.1443G>A (p.Met481Ile)
c.1406G>A
n.601G>A
c.1038G>A (p.Met346Ile)
c.1062G>A (p.Met354Ile)
c.*3944G>A (n.*3944G>A)
c.1224G>A
c.714G>A (p.Met238Ile)
c.1323G>A (p.Met441Ile)
c.1347G>A (p.Met449Ile)
c.2010G>A (n.2010G>A)
c.*1528G>A (n.*1528G>A)
c.*547G>A (n.*547G>A)
c.1281G>A (p.Met427Ile)
c.1257G>A (p.Met419Ile)
n.621G>A
n.6294G>A
c.785G>A
c.1260G>A (p.Met420Ile)
c.1416G>A (p.Met472Ile)
c.1467G>A (p.Met489Ile)
c.*925G>A (n.*925G>A)
c.1444G>A (n.1444G>A)
c.1338G>A (p.Met446Ile)
c.*181G>A (n.*181G>A)
c.1344G>A (p.Met448Ile)
c.1320G>A (p.Met440Ile)
c.1386G>A (p.Met462Ile)
c.903G>A (p.Met301Ile)
c.927G>A (p.Met309Ile)
 ClinVar dbSNP
5g.162153287G>CCA362183905GABRG2c.1348G>C
c.1443G>C (p.Met481Ile)
c.1406G>C
n.601G>C
c.1038G>C (p.Met346Ile)
c.1062G>C (p.Met354Ile)
c.*3944G>C (n.*3944G>C)
c.1224G>C
c.714G>C (p.Met238Ile)
c.1323G>C (p.Met441Ile)
c.1347G>C (p.Met449Ile)
c.2010G>C (n.2010G>C)
c.*1528G>C (n.*1528G>C)
c.*547G>C (n.*547G>C)
c.1281G>C (p.Met427Ile)
c.1257G>C (p.Met419Ile)
n.621G>C
n.6294G>C
c.785G>C
c.1260G>C (p.Met420Ile)
c.1416G>C (p.Met472Ile)
c.1467G>C (p.Met489Ile)
c.*925G>C (n.*925G>C)
c.1444G>C (n.1444G>C)
c.1338G>C (p.Met446Ile)
c.*181G>C (n.*181G>C)
c.1344G>C (p.Met448Ile)
c.1320G>C (p.Met440Ile)
c.1386G>C (p.Met462Ile)
c.903G>C (p.Met301Ile)
c.927G>C (p.Met309Ile)
5g.162153287G>TCA362183906GABRG2c.1348G>T
c.1443G>T (p.Met481Ile)
c.1406G>T
n.601G>T
c.1038G>T (p.Met346Ile)
c.1062G>T (p.Met354Ile)
c.*3944G>T (n.*3944G>T)
c.1224G>T
c.714G>T (p.Met238Ile)
c.1323G>T (p.Met441Ile)
c.1347G>T (p.Met449Ile)
c.2010G>T (n.2010G>T)
c.*1528G>T (n.*1528G>T)
c.*547G>T (n.*547G>T)
c.1281G>T (p.Met427Ile)
c.1257G>T (p.Met419Ile)
n.621G>T
n.6294G>T
c.785G>T
c.1260G>T (p.Met420Ile)
c.1416G>T (p.Met472Ile)
c.1467G>T (p.Met489Ile)
c.*925G>T (n.*925G>T)
c.1444G>T (n.1444G>T)
c.1338G>T (p.Met446Ile)
c.*181G>T (n.*181G>T)
c.1344G>T (p.Met448Ile)
c.1320G>T (p.Met440Ile)
c.1386G>T (p.Met462Ile)
c.903G>T (p.Met301Ile)
c.927G>T (p.Met309Ile)
 gnomAD v4
5g.162153288G>ACA362183910GABRG2c.1349G>A
c.1444G>A (p.Asp482Asn)
c.1407G>A
n.602G>A
c.1039G>A (p.Asp347Asn)
c.1063G>A (p.Asp355Asn)
c.*3945G>A (n.*3945G>A)
c.1225G>A
c.715G>A (p.Asp239Asn)
c.1324G>A (p.Asp442Asn)
c.1348G>A (p.Asp450Asn)
c.2011G>A (n.2011G>A)
c.*1529G>A (n.*1529G>A)
c.*548G>A (n.*548G>A)
c.1282G>A (p.Asp428Asn)
c.1258G>A (p.Asp420Asn)
n.622G>A
n.6295G>A
c.786G>A
c.1261G>A (p.Asp421Asn)
c.1417G>A (p.Asp473Asn)
c.1468G>A (p.Asp490Asn)
c.*926G>A (n.*926G>A)
c.1445G>A (n.1445G>A)
c.1339G>A (p.Asp447Asn)
c.*182G>A (n.*182G>A)
c.1345G>A (p.Asp449Asn)
c.1321G>A (p.Asp441Asn)
c.1387G>A (p.Asp463Asn)
c.904G>A (p.Asp302Asn)
c.928G>A (p.Asp310Asn)
 ClinVar gnomAD v4 COSMIC
5g.162153288G>CCA362183912GABRG2c.1349G>C
c.1444G>C (p.Asp482His)
c.1407G>C
n.602G>C
c.1039G>C (p.Asp347His)
c.1063G>C (p.Asp355His)
c.*3945G>C (n.*3945G>C)
c.1225G>C
c.715G>C (p.Asp239His)
c.1324G>C (p.Asp442His)
c.1348G>C (p.Asp450His)
c.2011G>C (n.2011G>C)
c.*1529G>C (n.*1529G>C)
c.*548G>C (n.*548G>C)
c.1282G>C (p.Asp428His)
c.1258G>C (p.Asp420His)
n.622G>C
n.6295G>C
c.786G>C
c.1261G>C (p.Asp421His)
c.1417G>C (p.Asp473His)
c.1468G>C (p.Asp490His)
c.*926G>C (n.*926G>C)
c.1445G>C (n.1445G>C)
c.1339G>C (p.Asp447His)
c.*182G>C (n.*182G>C)
c.1345G>C (p.Asp449His)
c.1321G>C (p.Asp441His)
c.1387G>C (p.Asp463His)
c.904G>C (p.Asp302His)
c.928G>C (p.Asp310His)
 ClinVar
5g.162153288G>TCA362183914GABRG2c.1349G>T
c.1444G>T (p.Asp482Tyr)
c.1407G>T
n.602G>T
c.1039G>T (p.Asp347Tyr)
c.1063G>T (p.Asp355Tyr)
c.*3945G>T (n.*3945G>T)
c.1225G>T
c.715G>T (p.Asp239Tyr)
c.1324G>T (p.Asp442Tyr)
c.1348G>T (p.Asp450Tyr)
c.2011G>T (n.2011G>T)
c.*1529G>T (n.*1529G>T)
c.*548G>T (n.*548G>T)
c.1282G>T (p.Asp428Tyr)
c.1258G>T (p.Asp420Tyr)
n.622G>T
n.6295G>T
c.786G>T
c.1261G>T (p.Asp421Tyr)
c.1417G>T (p.Asp473Tyr)
c.1468G>T (p.Asp490Tyr)
c.*926G>T (n.*926G>T)
c.1445G>T (n.1445G>T)
c.1339G>T (p.Asp447Tyr)
c.*182G>T (n.*182G>T)
c.1345G>T (p.Asp449Tyr)
c.1321G>T (p.Asp441Tyr)
c.1387G>T (p.Asp463Tyr)
c.904G>T (p.Asp302Tyr)
c.928G>T (p.Asp310Tyr)
5g.162153289A>CCA362183916GABRG2c.1350A>C
c.1445A>C (p.Asp482Ala)
c.1408A>C
n.603A>C
c.1040A>C (p.Asp347Ala)
c.1064A>C (p.Asp355Ala)
c.*3946A>C (n.*3946A>C)
c.1226A>C
c.716A>C (p.Asp239Ala)
c.1325A>C (p.Asp442Ala)
c.1349A>C (p.Asp450Ala)
c.2012A>C (n.2012A>C)
c.*1530A>C (n.*1530A>C)
c.*549A>C (n.*549A>C)
c.1283A>C (p.Asp428Ala)
c.1259A>C (p.Asp420Ala)
n.623A>C
n.6296A>C
c.787A>C
c.1262A>C (p.Asp421Ala)
c.1418A>C (p.Asp473Ala)
c.1469A>C (p.Asp490Ala)
c.*927A>C (n.*927A>C)
c.1446A>C (n.1446A>C)
c.1340A>C (p.Asp447Ala)
c.*183A>C (n.*183A>C)
c.1346A>C (p.Asp449Ala)
c.1322A>C (p.Asp441Ala)
c.1388A>C (p.Asp463Ala)
c.905A>C (p.Asp302Ala)
c.929A>C (p.Asp310Ala)
5g.162153289A>GCA362183918GABRG2c.1350A>G
c.1445A>G (p.Asp482Gly)
c.1408A>G
n.603A>G
c.1040A>G (p.Asp347Gly)
c.1064A>G (p.Asp355Gly)
c.*3946A>G (n.*3946A>G)
c.1226A>G
c.716A>G (p.Asp239Gly)
c.1325A>G (p.Asp442Gly)
c.1349A>G (p.Asp450Gly)
c.2012A>G (n.2012A>G)
c.*1530A>G (n.*1530A>G)
c.*549A>G (n.*549A>G)
c.1283A>G (p.Asp428Gly)
c.1259A>G (p.Asp420Gly)
n.623A>G
n.6296A>G
c.787A>G
c.1262A>G (p.Asp421Gly)
c.1418A>G (p.Asp473Gly)
c.1469A>G (p.Asp490Gly)
c.*927A>G (n.*927A>G)
c.1446A>G (n.1446A>G)
c.1340A>G (p.Asp447Gly)
c.*183A>G (n.*183A>G)
c.1346A>G (p.Asp449Gly)
c.1322A>G (p.Asp441Gly)
c.1388A>G (p.Asp463Gly)
c.905A>G (p.Asp302Gly)
c.929A>G (p.Asp310Gly)
5g.162153289A>TCA362183920GABRG2c.1350A>T
c.1445A>T (p.Asp482Val)
c.1408A>T
n.603A>T
c.1040A>T (p.Asp347Val)
c.1064A>T (p.Asp355Val)
c.*3946A>T (n.*3946A>T)
c.1226A>T
c.716A>T (p.Asp239Val)
c.1325A>T (p.Asp442Val)
c.1349A>T (p.Asp450Val)
c.2012A>T (n.2012A>T)
c.*1530A>T (n.*1530A>T)
c.*549A>T (n.*549A>T)
c.1283A>T (p.Asp428Val)
c.1259A>T (p.Asp420Val)
n.623A>T
n.6296A>T
c.787A>T
c.1262A>T (p.Asp421Val)
c.1418A>T (p.Asp473Val)
c.1469A>T (p.Asp490Val)
c.*927A>T (n.*927A>T)
c.1446A>T (n.1446A>T)
c.1340A>T (p.Asp447Val)
c.*183A>T (n.*183A>T)
c.1346A>T (p.Asp449Val)
c.1322A>T (p.Asp441Val)
c.1388A>T (p.Asp463Val)
c.905A>T (p.Asp302Val)
c.929A>T (p.Asp310Val)

Number of alleles fetched