Chr Mutation (hg38) CAid Gene Transcript Linkouts
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)
5g.162153290C>ACA362183922GABRG2c.1351C>A
c.1446C>A (p.Asp482Glu)
c.1409C>A
n.604C>A
c.1041C>A (p.Asp347Glu)
c.1065C>A (p.Asp355Glu)
c.*3947C>A (n.*3947C>A)
c.1227C>A
c.717C>A (p.Asp239Glu)
c.1326C>A (p.Asp442Glu)
c.1350C>A (p.Asp450Glu)
c.2013C>A (n.2013C>A)
c.*1531C>A (n.*1531C>A)
c.*550C>A (n.*550C>A)
c.1284C>A (p.Asp428Glu)
c.1260C>A (p.Asp420Glu)
n.624C>A
n.6297C>A
c.788C>A
c.1263C>A (p.Asp421Glu)
c.1419C>A (p.Asp473Glu)
c.1470C>A (p.Asp490Glu)
c.*928C>A (n.*928C>A)
c.1447C>A (n.1447C>A)
c.1341C>A (p.Asp447Glu)
c.*184C>A (n.*184C>A)
c.1347C>A (p.Asp449Glu)
c.1323C>A (p.Asp441Glu)
c.1389C>A (p.Asp463Glu)
c.906C>A (p.Asp302Glu)
c.930C>A (p.Asp310Glu)
5g.162153290C=CA1596382188GABRG2c.1351C=
c.1446C= (p.Asp482=)
c.1409C=
n.604C=
c.1041C= (p.Asp347=)
c.1065C= (p.Asp355=)
c.*3947C= (n.*3947C=)
c.1227C=
c.717C= (p.Asp239=)
c.1326C= (p.Asp442=)
c.1350C= (p.Asp450=)
c.2013C= (n.2013C=)
c.*1531C= (n.*1531C=)
c.*550C= (n.*550C=)
c.1284C= (p.Asp428=)
c.1260C= (p.Asp420=)
n.624C=
n.6297C=
c.788C=
c.1263C= (p.Asp421=)
c.1419C= (p.Asp473=)
c.1470C= (p.Asp490=)
c.*928C= (n.*928C=)
c.1447C= (n.1447C=)
c.1341C= (p.Asp447=)
c.*184C= (n.*184C=)
c.1347C= (p.Asp449=)
c.1323C= (p.Asp441=)
c.1389C= (p.Asp463=)
c.906C= (p.Asp302=)
c.930C= (p.Asp310=)
5g.162153290C>GCA362183924GABRG2c.1351C>G
c.1446C>G (p.Asp482Glu)
c.1409C>G
n.604C>G
c.1041C>G (p.Asp347Glu)
c.1065C>G (p.Asp355Glu)
c.*3947C>G (n.*3947C>G)
c.1227C>G
c.717C>G (p.Asp239Glu)
c.1326C>G (p.Asp442Glu)
c.1350C>G (p.Asp450Glu)
c.2013C>G (n.2013C>G)
c.*1531C>G (n.*1531C>G)
c.*550C>G (n.*550C>G)
c.1284C>G (p.Asp428Glu)
c.1260C>G (p.Asp420Glu)
n.624C>G
n.6297C>G
c.788C>G
c.1263C>G (p.Asp421Glu)
c.1419C>G (p.Asp473Glu)
c.1470C>G (p.Asp490Glu)
c.*928C>G (n.*928C>G)
c.1447C>G (n.1447C>G)
c.1341C>G (p.Asp447Glu)
c.*184C>G (n.*184C>G)
c.1347C>G (p.Asp449Glu)
c.1323C>G (p.Asp441Glu)
c.1389C>G (p.Asp463Glu)
c.906C>G (p.Asp302Glu)
c.930C>G (p.Asp310Glu)
5g.162153290C>TCA3544994GABRG2c.1351C>T
c.1446C>T (p.Asp482=)
c.1409C>T
n.604C>T
c.1041C>T (p.Asp347=)
c.1065C>T (p.Asp355=)
c.*3947C>T (n.*3947C>T)
c.1227C>T
c.717C>T (p.Asp239=)
c.1326C>T (p.Asp442=)
c.1350C>T (p.Asp450=)
c.2013C>T (n.2013C>T)
c.*1531C>T (n.*1531C>T)
c.*550C>T (n.*550C>T)
c.1284C>T (p.Asp428=)
c.1260C>T (p.Asp420=)
n.624C>T
n.6297C>T
c.788C>T
c.1263C>T (p.Asp421=)
c.1419C>T (p.Asp473=)
c.1470C>T (p.Asp490=)
c.*928C>T (n.*928C>T)
c.1447C>T (n.1447C>T)
c.1341C>T (p.Asp447=)
c.*184C>T (n.*184C>T)
c.1347C>T (p.Asp449=)
c.1323C>T (p.Asp441=)
c.1389C>T (p.Asp463=)
c.906C>T (p.Asp302=)
c.930C>T (p.Asp310=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.162153291T>ACA362183932GABRG2c.1352T>A
c.1447T>A (p.Ser483Thr)
c.1410T>A
n.605T>A
c.1042T>A (p.Ser348Thr)
c.1066T>A (p.Ser356Thr)
c.*3948T>A (n.*3948T>A)
c.1228T>A
c.718T>A (p.Ser240Thr)
c.1327T>A (p.Ser443Thr)
c.1351T>A (p.Ser451Thr)
c.2014T>A (n.2014T>A)
c.*1532T>A (n.*1532T>A)
c.*551T>A (n.*551T>A)
c.1285T>A (p.Ser429Thr)
c.1261T>A (p.Ser421Thr)
n.625T>A
n.6298T>A
c.789T>A
c.1264T>A (p.Ser422Thr)
c.1420T>A (p.Ser474Thr)
c.1471T>A (p.Ser491Thr)
c.*929T>A (n.*929T>A)
c.1448T>A (n.1448T>A)
c.1342T>A (p.Ser448Thr)
c.*185T>A (n.*185T>A)
c.1348T>A (p.Ser450Thr)
c.1324T>A (p.Ser442Thr)
c.1390T>A (p.Ser464Thr)
c.907T>A (p.Ser303Thr)
c.931T>A (p.Ser311Thr)
5g.162153291T>CCA362183929GABRG2c.1352T>C
c.1447T>C (p.Ser483Pro)
c.1410T>C
n.605T>C
c.1042T>C (p.Ser348Pro)
c.1066T>C (p.Ser356Pro)
c.*3948T>C (n.*3948T>C)
c.1228T>C
c.718T>C (p.Ser240Pro)
c.1327T>C (p.Ser443Pro)
c.1351T>C (p.Ser451Pro)
c.2014T>C (n.2014T>C)
c.*1532T>C (n.*1532T>C)
c.*551T>C (n.*551T>C)
c.1285T>C (p.Ser429Pro)
c.1261T>C (p.Ser421Pro)
n.625T>C
n.6298T>C
c.789T>C
c.1264T>C (p.Ser422Pro)
c.1420T>C (p.Ser474Pro)
c.1471T>C (p.Ser491Pro)
c.*929T>C (n.*929T>C)
c.1448T>C (n.1448T>C)
c.1342T>C (p.Ser448Pro)
c.*185T>C (n.*185T>C)
c.1348T>C (p.Ser450Pro)
c.1324T>C (p.Ser442Pro)
c.1390T>C (p.Ser464Pro)
c.907T>C (p.Ser303Pro)
c.931T>C (p.Ser311Pro)
5g.162153291T>GCA362183928GABRG2c.1352T>G
c.1447T>G (p.Ser483Ala)
c.1410T>G
n.605T>G
c.1042T>G (p.Ser348Ala)
c.1066T>G (p.Ser356Ala)
c.*3948T>G (n.*3948T>G)
c.1228T>G
c.718T>G (p.Ser240Ala)
c.1327T>G (p.Ser443Ala)
c.1351T>G (p.Ser451Ala)
c.2014T>G (n.2014T>G)
c.*1532T>G (n.*1532T>G)
c.*551T>G (n.*551T>G)
c.1285T>G (p.Ser429Ala)
c.1261T>G (p.Ser421Ala)
n.625T>G
n.6298T>G
c.789T>G
c.1264T>G (p.Ser422Ala)
c.1420T>G (p.Ser474Ala)
c.1471T>G (p.Ser491Ala)
c.*929T>G (n.*929T>G)
c.1448T>G (n.1448T>G)
c.1342T>G (p.Ser448Ala)
c.*185T>G (n.*185T>G)
c.1348T>G (p.Ser450Ala)
c.1324T>G (p.Ser442Ala)
c.1390T>G (p.Ser464Ala)
c.907T>G (p.Ser303Ala)
c.931T>G (p.Ser311Ala)
 dbSNP gnomAD v2 gnomAD v4
5g.162153291T=CA1596382197GABRG2c.1352T=
c.1447T= (p.Ser483=)
c.1410T=
n.605T=
c.1042T= (p.Ser348=)
c.1066T= (p.Ser356=)
c.*3948T= (n.*3948T=)
c.1228T=
c.718T= (p.Ser240=)
c.1327T= (p.Ser443=)
c.1351T= (p.Ser451=)
c.2014T= (n.2014T=)
c.*1532T= (n.*1532T=)
c.*551T= (n.*551T=)
c.1285T= (p.Ser429=)
c.1261T= (p.Ser421=)
n.625T=
n.6298T=
c.789T=
c.1264T= (p.Ser422=)
c.1420T= (p.Ser474=)
c.1471T= (p.Ser491=)
c.*929T= (n.*929T=)
c.1448T= (n.1448T=)
c.1342T= (p.Ser448=)
c.*185T= (n.*185T=)
c.1348T= (p.Ser450=)
c.1324T= (p.Ser442=)
c.1390T= (p.Ser464=)
c.907T= (p.Ser303=)
c.931T= (p.Ser311=)
5g.162153292C>ACA362183934GABRG2c.1353C>A
c.1448C>A (p.Ser483Tyr)
c.1411C>A
n.606C>A
c.1043C>A (p.Ser348Tyr)
c.1067C>A (p.Ser356Tyr)
c.*3949C>A (n.*3949C>A)
c.1229C>A
c.719C>A (p.Ser240Tyr)
c.1328C>A (p.Ser443Tyr)
c.1352C>A (p.Ser451Tyr)
c.2015C>A (n.2015C>A)
c.*1533C>A (n.*1533C>A)
c.*552C>A (n.*552C>A)
c.1286C>A (p.Ser429Tyr)
c.1262C>A (p.Ser421Tyr)
n.626C>A
n.6299C>A
c.790C>A
c.1265C>A (p.Ser422Tyr)
c.1421C>A (p.Ser474Tyr)
c.1472C>A (p.Ser491Tyr)
c.*930C>A (n.*930C>A)
c.1449C>A (n.1449C>A)
c.1343C>A (p.Ser448Tyr)
c.*186C>A (n.*186C>A)
c.1349C>A (p.Ser450Tyr)
c.1325C>A (p.Ser442Tyr)
c.1391C>A (p.Ser464Tyr)
c.908C>A (p.Ser303Tyr)
c.932C>A (p.Ser311Tyr)
5g.162153292C=CA1596382202GABRG2c.1353C=
c.1448C= (p.Ser483=)
c.1411C=
n.606C=
c.1043C= (p.Ser348=)
c.1067C= (p.Ser356=)
c.*3949C= (n.*3949C=)
c.1229C=
c.719C= (p.Ser240=)
c.1328C= (p.Ser443=)
c.1352C= (p.Ser451=)
c.2015C= (n.2015C=)
c.*1533C= (n.*1533C=)
c.*552C= (n.*552C=)
c.1286C= (p.Ser429=)
c.1262C= (p.Ser421=)
n.626C=
n.6299C=
c.790C=
c.1265C= (p.Ser422=)
c.1421C= (p.Ser474=)
c.1472C= (p.Ser491=)
c.*930C= (n.*930C=)
c.1449C= (n.1449C=)
c.1343C= (p.Ser448=)
c.*186C= (n.*186C=)
c.1349C= (p.Ser450=)
c.1325C= (p.Ser442=)
c.1391C= (p.Ser464=)
c.908C= (p.Ser303=)
c.932C= (p.Ser311=)
5g.162153292C>GCA362183936GABRG2c.1353C>G
c.1448C>G (p.Ser483Cys)
c.1411C>G
n.606C>G
c.1043C>G (p.Ser348Cys)
c.1067C>G (p.Ser356Cys)
c.*3949C>G (n.*3949C>G)
c.1229C>G
c.719C>G (p.Ser240Cys)
c.1328C>G (p.Ser443Cys)
c.1352C>G (p.Ser451Cys)
c.2015C>G (n.2015C>G)
c.*1533C>G (n.*1533C>G)
c.*552C>G (n.*552C>G)
c.1286C>G (p.Ser429Cys)
c.1262C>G (p.Ser421Cys)
n.626C>G
n.6299C>G
c.790C>G
c.1265C>G (p.Ser422Cys)
c.1421C>G (p.Ser474Cys)
c.1472C>G (p.Ser491Cys)
c.*930C>G (n.*930C>G)
c.1449C>G (n.1449C>G)
c.1343C>G (p.Ser448Cys)
c.*186C>G (n.*186C>G)
c.1349C>G (p.Ser450Cys)
c.1325C>G (p.Ser442Cys)
c.1391C>G (p.Ser464Cys)
c.908C>G (p.Ser303Cys)
c.932C>G (p.Ser311Cys)
 COSMIC
5g.162153292C>TCA362183938GABRG2c.1353C>T
c.1448C>T (p.Ser483Phe)
c.1411C>T
n.606C>T
c.1043C>T (p.Ser348Phe)
c.1067C>T (p.Ser356Phe)
c.*3949C>T (n.*3949C>T)
c.1229C>T
c.719C>T (p.Ser240Phe)
c.1328C>T (p.Ser443Phe)
c.1352C>T (p.Ser451Phe)
c.2015C>T (n.2015C>T)
c.*1533C>T (n.*1533C>T)
c.*552C>T (n.*552C>T)
c.1286C>T (p.Ser429Phe)
c.1262C>T (p.Ser421Phe)
n.626C>T
n.6299C>T
c.790C>T
c.1265C>T (p.Ser422Phe)
c.1421C>T (p.Ser474Phe)
c.1472C>T (p.Ser491Phe)
c.*930C>T (n.*930C>T)
c.1449C>T (n.1449C>T)
c.1343C>T (p.Ser448Phe)
c.*186C>T (n.*186C>T)
c.1349C>T (p.Ser450Phe)
c.1325C>T (p.Ser442Phe)
c.1391C>T (p.Ser464Phe)
c.908C>T (p.Ser303Phe)
c.932C>T (p.Ser311Phe)
 dbSNP
5g.162153293delCA2695205690GABRG2c.1354del
c.1449del (p.Tyr484MetfsTer?)
c.1412del
n.607del
c.1044del (p.Tyr349MetfsTer?)
c.1068del (p.Tyr357MetfsTer?)
c.*3950del (n.*3950del)
c.1230del
c.720del (p.Tyr241MetfsTer?)
c.1329del (p.Tyr444MetfsTer?)
c.1353del (p.Tyr452MetfsTer?)
c.2016del (n.2016del)
c.*1534del (n.*1534del)
c.*553del (n.*553del)
c.1287del (p.Tyr430MetfsTer?)
c.1263del (p.Tyr422MetfsTer?)
n.627del
n.6300del
c.791del
c.1266del (p.Tyr423MetfsTer?)
c.1422del (p.Tyr475MetfsTer?)
c.1473del (p.Tyr492MetfsTer?)
c.*931del (n.*931del)
c.1450del (n.1450del)
c.1344del (p.Tyr449MetfsTer?)
c.*187del (n.*187del)
c.1350del (p.Tyr451MetfsTer?)
c.1326del (p.Tyr443MetfsTer?)
c.1392del (p.Tyr465MetfsTer?)
c.909del (p.Tyr304MetfsTer?)
c.933del (p.Tyr312MetfsTer?)
 ClinVar
5g.162153293C>ACA447691962GABRG2c.1354C>A
c.1449C>A (p.Ser483=)
c.1412C>A
n.607C>A
c.1044C>A (p.Ser348=)
c.1068C>A (p.Ser356=)
c.*3950C>A (n.*3950C>A)
c.1230C>A
c.720C>A (p.Ser240=)
c.1329C>A (p.Ser443=)
c.1353C>A (p.Ser451=)
c.2016C>A (n.2016C>A)
c.*1534C>A (n.*1534C>A)
c.*553C>A (n.*553C>A)
c.1287C>A (p.Ser429=)
c.1263C>A (p.Ser421=)
n.627C>A
n.6300C>A
c.791C>A
c.1266C>A (p.Ser422=)
c.1422C>A (p.Ser474=)
c.1473C>A (p.Ser491=)
c.*931C>A (n.*931C>A)
c.1450C>A (n.1450C>A)
c.1344C>A (p.Ser448=)
c.*187C>A (n.*187C>A)
c.1350C>A (p.Ser450=)
c.1326C>A (p.Ser442=)
c.1392C>A (p.Ser464=)
c.909C>A (p.Ser303=)
c.933C>A (p.Ser311=)
5g.162153293C>GCA447691963GABRG2c.1354C>G
c.1449C>G (p.Ser483=)
c.1412C>G
n.607C>G
c.1044C>G (p.Ser348=)
c.1068C>G (p.Ser356=)
c.*3950C>G (n.*3950C>G)
c.1230C>G
c.720C>G (p.Ser240=)
c.1329C>G (p.Ser443=)
c.1353C>G (p.Ser451=)
c.2016C>G (n.2016C>G)
c.*1534C>G (n.*1534C>G)
c.*553C>G (n.*553C>G)
c.1287C>G (p.Ser429=)
c.1263C>G (p.Ser421=)
n.627C>G
n.6300C>G
c.791C>G
c.1266C>G (p.Ser422=)
c.1422C>G (p.Ser474=)
c.1473C>G (p.Ser491=)
c.*931C>G (n.*931C>G)
c.1450C>G (n.1450C>G)
c.1344C>G (p.Ser448=)
c.*187C>G (n.*187C>G)
c.1350C>G (p.Ser450=)
c.1326C>G (p.Ser442=)
c.1392C>G (p.Ser464=)
c.909C>G (p.Ser303=)
c.933C>G (p.Ser311=)
5g.162153293C>TCA447691964GABRG2c.1354C>T
c.1449C>T (p.Ser483=)
c.1412C>T
n.607C>T
c.1044C>T (p.Ser348=)
c.1068C>T (p.Ser356=)
c.*3950C>T (n.*3950C>T)
c.1230C>T
c.720C>T (p.Ser240=)
c.1329C>T (p.Ser443=)
c.1353C>T (p.Ser451=)
c.2016C>T (n.2016C>T)
c.*1534C>T (n.*1534C>T)
c.*553C>T (n.*553C>T)
c.1287C>T (p.Ser429=)
c.1263C>T (p.Ser421=)
n.627C>T
n.6300C>T
c.791C>T
c.1266C>T (p.Ser422=)
c.1422C>T (p.Ser474=)
c.1473C>T (p.Ser491=)
c.*931C>T (n.*931C>T)
c.1450C>T (n.1450C>T)
c.1344C>T (p.Ser448=)
c.*187C>T (n.*187C>T)
c.1350C>T (p.Ser450=)
c.1326C>T (p.Ser442=)
c.1392C>T (p.Ser464=)
c.909C>T (p.Ser303=)
c.933C>T (p.Ser311=)
5g.162153294T>ACA362183940GABRG2c.1355T>A
c.1450T>A (p.Tyr484Asn)
c.1413T>A
n.608T>A
c.1045T>A (p.Tyr349Asn)
c.1069T>A (p.Tyr357Asn)
c.*3951T>A (n.*3951T>A)
c.1231T>A
c.721T>A (p.Tyr241Asn)
c.1330T>A (p.Tyr444Asn)
c.1354T>A (p.Tyr452Asn)
c.2017T>A (n.2017T>A)
c.*1535T>A (n.*1535T>A)
c.*554T>A (n.*554T>A)
c.1288T>A (p.Tyr430Asn)
c.1264T>A (p.Tyr422Asn)
n.628T>A
n.6301T>A
c.792T>A
c.1267T>A (p.Tyr423Asn)
c.1423T>A (p.Tyr475Asn)
c.1474T>A (p.Tyr492Asn)
c.*932T>A (n.*932T>A)
c.1451T>A (n.1451T>A)
c.1345T>A (p.Tyr449Asn)
c.*188T>A (n.*188T>A)
c.1351T>A (p.Tyr451Asn)
c.1327T>A (p.Tyr443Asn)
c.1393T>A (p.Tyr465Asn)
c.910T>A (p.Tyr304Asn)
c.934T>A (p.Tyr312Asn)
5g.162153294T>CCA362183942GABRG2c.1355T>C
c.1450T>C (p.Tyr484His)
c.1413T>C
n.608T>C
c.1045T>C (p.Tyr349His)
c.1069T>C (p.Tyr357His)
c.*3951T>C (n.*3951T>C)
c.1231T>C
c.721T>C (p.Tyr241His)
c.1330T>C (p.Tyr444His)
c.1354T>C (p.Tyr452His)
c.2017T>C (n.2017T>C)
c.*1535T>C (n.*1535T>C)
c.*554T>C (n.*554T>C)
c.1288T>C (p.Tyr430His)
c.1264T>C (p.Tyr422His)
n.628T>C
n.6301T>C
c.792T>C
c.1267T>C (p.Tyr423His)
c.1423T>C (p.Tyr475His)
c.1474T>C (p.Tyr492His)
c.*932T>C (n.*932T>C)
c.1451T>C (n.1451T>C)
c.1345T>C (p.Tyr449His)
c.*188T>C (n.*188T>C)
c.1351T>C (p.Tyr451His)
c.1327T>C (p.Tyr443His)
c.1393T>C (p.Tyr465His)
c.910T>C (p.Tyr304His)
c.934T>C (p.Tyr312His)
5g.162153294T>GCA362183944GABRG2c.1355T>G
c.1450T>G (p.Tyr484Asp)
c.1413T>G
n.608T>G
c.1045T>G (p.Tyr349Asp)
c.1069T>G (p.Tyr357Asp)
c.*3951T>G (n.*3951T>G)
c.1231T>G
c.721T>G (p.Tyr241Asp)
c.1330T>G (p.Tyr444Asp)
c.1354T>G (p.Tyr452Asp)
c.2017T>G (n.2017T>G)
c.*1535T>G (n.*1535T>G)
c.*554T>G (n.*554T>G)
c.1288T>G (p.Tyr430Asp)
c.1264T>G (p.Tyr422Asp)
n.628T>G
n.6301T>G
c.792T>G
c.1267T>G (p.Tyr423Asp)
c.1423T>G (p.Tyr475Asp)
c.1474T>G (p.Tyr492Asp)
c.*932T>G (n.*932T>G)
c.1451T>G (n.1451T>G)
c.1345T>G (p.Tyr449Asp)
c.*188T>G (n.*188T>G)
c.1351T>G (p.Tyr451Asp)
c.1327T>G (p.Tyr443Asp)
c.1393T>G (p.Tyr465Asp)
c.910T>G (p.Tyr304Asp)
c.934T>G (p.Tyr312Asp)
5g.162153295A=CA1596382207GABRG2c.1356A=
c.1451A= (p.Tyr484=)
c.1414A=
n.609A=
c.1046A= (p.Tyr349=)
c.1070A= (p.Tyr357=)
c.*3952A= (n.*3952A=)
c.1232A=
c.722A= (p.Tyr241=)
c.1331A= (p.Tyr444=)
c.1355A= (p.Tyr452=)
c.2018A= (n.2018A=)
c.*1536A= (n.*1536A=)
c.*555A= (n.*555A=)
c.1289A= (p.Tyr430=)
c.1265A= (p.Tyr422=)
n.629A=
n.6302A=
c.793A=
c.1268A= (p.Tyr423=)
c.1424A= (p.Tyr475=)
c.1475A= (p.Tyr492=)
c.*933A= (n.*933A=)
c.1452A= (n.1452A=)
c.1346A= (p.Tyr449=)
c.*189A= (n.*189A=)
c.1352A= (p.Tyr451=)
c.1328A= (p.Tyr443=)
c.1394A= (p.Tyr465=)
c.911A= (p.Tyr304=)
c.935A= (p.Tyr312=)
5g.162153295A>CCA362183947GABRG2c.1356A>C
c.1451A>C (p.Tyr484Ser)
c.1414A>C
n.609A>C
c.1046A>C (p.Tyr349Ser)
c.1070A>C (p.Tyr357Ser)
c.*3952A>C (n.*3952A>C)
c.1232A>C
c.722A>C (p.Tyr241Ser)
c.1331A>C (p.Tyr444Ser)
c.1355A>C (p.Tyr452Ser)
c.2018A>C (n.2018A>C)
c.*1536A>C (n.*1536A>C)
c.*555A>C (n.*555A>C)
c.1289A>C (p.Tyr430Ser)
c.1265A>C (p.Tyr422Ser)
n.629A>C
n.6302A>C
c.793A>C
c.1268A>C (p.Tyr423Ser)
c.1424A>C (p.Tyr475Ser)
c.1475A>C (p.Tyr492Ser)
c.*933A>C (n.*933A>C)
c.1452A>C (n.1452A>C)
c.1346A>C (p.Tyr449Ser)
c.*189A>C (n.*189A>C)
c.1352A>C (p.Tyr451Ser)
c.1328A>C (p.Tyr443Ser)
c.1394A>C (p.Tyr465Ser)
c.911A>C (p.Tyr304Ser)
c.935A>C (p.Tyr312Ser)
5g.162153295A>GCA362183949GABRG2c.1356A>G
c.1451A>G (p.Tyr484Cys)
c.1414A>G
n.609A>G
c.1046A>G (p.Tyr349Cys)
c.1070A>G (p.Tyr357Cys)
c.*3952A>G (n.*3952A>G)
c.1232A>G
c.722A>G (p.Tyr241Cys)
c.1331A>G (p.Tyr444Cys)
c.1355A>G (p.Tyr452Cys)
c.2018A>G (n.2018A>G)
c.*1536A>G (n.*1536A>G)
c.*555A>G (n.*555A>G)
c.1289A>G (p.Tyr430Cys)
c.1265A>G (p.Tyr422Cys)
n.629A>G
n.6302A>G
c.793A>G
c.1268A>G (p.Tyr423Cys)
c.1424A>G (p.Tyr475Cys)
c.1475A>G (p.Tyr492Cys)
c.*933A>G (n.*933A>G)
c.1452A>G (n.1452A>G)
c.1346A>G (p.Tyr449Cys)
c.*189A>G (n.*189A>G)
c.1352A>G (p.Tyr451Cys)
c.1328A>G (p.Tyr443Cys)
c.1394A>G (p.Tyr465Cys)
c.911A>G (p.Tyr304Cys)
c.935A>G (p.Tyr312Cys)
 dbSNP gnomAD v4 COSMIC
5g.162153295A>TCA362183950GABRG2c.1356A>T
c.1451A>T (p.Tyr484Phe)
c.1414A>T
n.609A>T
c.1046A>T (p.Tyr349Phe)
c.1070A>T (p.Tyr357Phe)
c.*3952A>T (n.*3952A>T)
c.1232A>T
c.722A>T (p.Tyr241Phe)
c.1331A>T (p.Tyr444Phe)
c.1355A>T (p.Tyr452Phe)
c.2018A>T (n.2018A>T)
c.*1536A>T (n.*1536A>T)
c.*555A>T (n.*555A>T)
c.1289A>T (p.Tyr430Phe)
c.1265A>T (p.Tyr422Phe)
n.629A>T
n.6302A>T
c.793A>T
c.1268A>T (p.Tyr423Phe)
c.1424A>T (p.Tyr475Phe)
c.1475A>T (p.Tyr492Phe)
c.*933A>T (n.*933A>T)
c.1452A>T (n.1452A>T)
c.1346A>T (p.Tyr449Phe)
c.*189A>T (n.*189A>T)
c.1352A>T (p.Tyr451Phe)
c.1328A>T (p.Tyr443Phe)
c.1394A>T (p.Tyr465Phe)
c.911A>T (p.Tyr304Phe)
c.935A>T (p.Tyr312Phe)
5g.162153296T>ACA362183953GABRG2c.1357T>A
c.1452T>A (p.Tyr484Ter)
c.1415T>A
n.610T>A
c.1047T>A (p.Tyr349Ter)
c.1071T>A (p.Tyr357Ter)
c.*3953T>A (n.*3953T>A)
c.1233T>A
c.723T>A (p.Tyr241Ter)
c.1332T>A (p.Tyr444Ter)
c.1356T>A (p.Tyr452Ter)
c.2019T>A (n.2019T>A)
c.*1537T>A (n.*1537T>A)
c.*556T>A (n.*556T>A)
c.1290T>A (p.Tyr430Ter)
c.1266T>A (p.Tyr422Ter)
n.630T>A
n.6303T>A
c.794T>A
c.1269T>A (p.Tyr423Ter)
c.1425T>A (p.Tyr475Ter)
c.1476T>A (p.Tyr492Ter)
c.*934T>A (n.*934T>A)
c.1453T>A (n.1453T>A)
c.1347T>A (p.Tyr449Ter)
c.*190T>A (n.*190T>A)
c.1353T>A (p.Tyr451Ter)
c.1329T>A (p.Tyr443Ter)
c.1395T>A (p.Tyr465Ter)
c.912T>A (p.Tyr304Ter)
c.936T>A (p.Tyr312Ter)
5g.162153296T>CCA3544995GABRG2c.1357T>C
c.1452T>C (p.Tyr484=)
c.1415T>C
n.610T>C
c.1047T>C (p.Tyr349=)
c.1071T>C (p.Tyr357=)
c.*3953T>C (n.*3953T>C)
c.1233T>C
c.723T>C (p.Tyr241=)
c.1332T>C (p.Tyr444=)
c.1356T>C (p.Tyr452=)
c.2019T>C (n.2019T>C)
c.*1537T>C (n.*1537T>C)
c.*556T>C (n.*556T>C)
c.1290T>C (p.Tyr430=)
c.1266T>C (p.Tyr422=)
n.630T>C
n.6303T>C
c.794T>C
c.1269T>C (p.Tyr423=)
c.1425T>C (p.Tyr475=)
c.1476T>C (p.Tyr492=)
c.*934T>C (n.*934T>C)
c.1453T>C (n.1453T>C)
c.1347T>C (p.Tyr449=)
c.*190T>C (n.*190T>C)
c.1353T>C (p.Tyr451=)
c.1329T>C (p.Tyr443=)
c.1395T>C (p.Tyr465=)
c.912T>C (p.Tyr304=)
c.936T>C (p.Tyr312=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.162153296T>GCA362183956GABRG2c.1357T>G
c.1452T>G (p.Tyr484Ter)
c.1415T>G
n.610T>G
c.1047T>G (p.Tyr349Ter)
c.1071T>G (p.Tyr357Ter)
c.*3953T>G (n.*3953T>G)
c.1233T>G
c.723T>G (p.Tyr241Ter)
c.1332T>G (p.Tyr444Ter)
c.1356T>G (p.Tyr452Ter)
c.2019T>G (n.2019T>G)
c.*1537T>G (n.*1537T>G)
c.*556T>G (n.*556T>G)
c.1290T>G (p.Tyr430Ter)
c.1266T>G (p.Tyr422Ter)
n.630T>G
n.6303T>G
c.794T>G
c.1269T>G (p.Tyr423Ter)
c.1425T>G (p.Tyr475Ter)
c.1476T>G (p.Tyr492Ter)
c.*934T>G (n.*934T>G)
c.1453T>G (n.1453T>G)
c.1347T>G (p.Tyr449Ter)
c.*190T>G (n.*190T>G)
c.1353T>G (p.Tyr451Ter)
c.1329T>G (p.Tyr443Ter)
c.1395T>G (p.Tyr465Ter)
c.912T>G (p.Tyr304Ter)
c.936T>G (p.Tyr312Ter)
5g.162153296T=CA1596382211GABRG2c.1357T=
c.1452T= (p.Tyr484=)
c.1415T=
n.610T=
c.1047T= (p.Tyr349=)
c.1071T= (p.Tyr357=)
c.*3953T= (n.*3953T=)
c.1233T=
c.723T= (p.Tyr241=)
c.1332T= (p.Tyr444=)
c.1356T= (p.Tyr452=)
c.2019T= (n.2019T=)
c.*1537T= (n.*1537T=)
c.*556T= (n.*556T=)
c.1290T= (p.Tyr430=)
c.1266T= (p.Tyr422=)
n.630T=
n.6303T=
c.794T=
c.1269T= (p.Tyr423=)
c.1425T= (p.Tyr475=)
c.1476T= (p.Tyr492=)
c.*934T= (n.*934T=)
c.1453T= (n.1453T=)
c.1347T= (p.Tyr449=)
c.*190T= (n.*190T=)
c.1353T= (p.Tyr451=)
c.1329T= (p.Tyr443=)
c.1395T= (p.Tyr465=)
c.912T= (p.Tyr304=)
c.936T= (p.Tyr312=)
5g.162153297delCA2740094179GABRG2c.1358del
c.1453del (p.Ala485LeufsTer?)
c.1416del
n.611del
c.1048del (p.Ala350LeufsTer?)
c.1072del (p.Ala358LeufsTer?)
c.*3954del (n.*3954del)
c.1234del
c.724del (p.Ala242LeufsTer?)
c.1333del (p.Ala445LeufsTer?)
c.1357del (p.Ala453LeufsTer?)
c.2020del (n.2020del)
c.*1538del (n.*1538del)
c.*557del (n.*557del)
c.1291del (p.Ala431LeufsTer?)
c.1267del (p.Ala423LeufsTer?)
n.631del
n.6304del
c.795del
c.1270del (p.Ala424LeufsTer?)
c.1426del (p.Ala476LeufsTer?)
c.1477del (p.Ala493LeufsTer?)
c.*935del (n.*935del)
c.1454del (n.1454del)
c.1348del (p.Ala450LeufsTer?)
c.*191del (n.*191del)
c.1354del (p.Ala452LeufsTer?)
c.1330del (p.Ala444LeufsTer?)
c.1396del (p.Ala466LeufsTer?)
c.913del (p.Ala305LeufsTer?)
c.937del (p.Ala313LeufsTer?)
 ClinVar
5g.162153297G>ACA362183963GABRG2c.1358G>A
c.1453G>A (p.Ala485Thr)
c.1416G>A
n.611G>A
c.1048G>A (p.Ala350Thr)
c.1072G>A (p.Ala358Thr)
c.*3954G>A (n.*3954G>A)
c.1234G>A
c.724G>A (p.Ala242Thr)
c.1333G>A (p.Ala445Thr)
c.1357G>A (p.Ala453Thr)
c.2020G>A (n.2020G>A)
c.*1538G>A (n.*1538G>A)
c.*557G>A (n.*557G>A)
c.1291G>A (p.Ala431Thr)
c.1267G>A (p.Ala423Thr)
n.631G>A
n.6304G>A
c.795G>A
c.1270G>A (p.Ala424Thr)
c.1426G>A (p.Ala476Thr)
c.1477G>A (p.Ala493Thr)
c.*935G>A (n.*935G>A)
c.1454G>A (n.1454G>A)
c.1348G>A (p.Ala450Thr)
c.*191G>A (n.*191G>A)
c.1354G>A (p.Ala452Thr)
c.1330G>A (p.Ala444Thr)
c.1396G>A (p.Ala466Thr)
c.913G>A (p.Ala305Thr)
c.937G>A (p.Ala313Thr)
 COSMIC
5g.162153297G>CCA362183959GABRG2c.1358G>C
c.1453G>C (p.Ala485Pro)
c.1416G>C
n.611G>C
c.1048G>C (p.Ala350Pro)
c.1072G>C (p.Ala358Pro)
c.*3954G>C (n.*3954G>C)
c.1234G>C
c.724G>C (p.Ala242Pro)
c.1333G>C (p.Ala445Pro)
c.1357G>C (p.Ala453Pro)
c.2020G>C (n.2020G>C)
c.*1538G>C (n.*1538G>C)
c.*557G>C (n.*557G>C)
c.1291G>C (p.Ala431Pro)
c.1267G>C (p.Ala423Pro)
n.631G>C
n.6304G>C
c.795G>C
c.1270G>C (p.Ala424Pro)
c.1426G>C (p.Ala476Pro)
c.1477G>C (p.Ala493Pro)
c.*935G>C (n.*935G>C)
c.1454G>C (n.1454G>C)
c.1348G>C (p.Ala450Pro)
c.*191G>C (n.*191G>C)
c.1354G>C (p.Ala452Pro)
c.1330G>C (p.Ala444Pro)
c.1396G>C (p.Ala466Pro)
c.913G>C (p.Ala305Pro)
c.937G>C (p.Ala313Pro)
5g.162153297G>TCA362183961GABRG2c.1358G>T
c.1453G>T (p.Ala485Ser)
c.1416G>T
n.611G>T
c.1048G>T (p.Ala350Ser)
c.1072G>T (p.Ala358Ser)
c.*3954G>T (n.*3954G>T)
c.1234G>T
c.724G>T (p.Ala242Ser)
c.1333G>T (p.Ala445Ser)
c.1357G>T (p.Ala453Ser)
c.2020G>T (n.2020G>T)
c.*1538G>T (n.*1538G>T)
c.*557G>T (n.*557G>T)
c.1291G>T (p.Ala431Ser)
c.1267G>T (p.Ala423Ser)
n.631G>T
n.6304G>T
c.795G>T
c.1270G>T (p.Ala424Ser)
c.1426G>T (p.Ala476Ser)
c.1477G>T (p.Ala493Ser)
c.*935G>T (n.*935G>T)
c.1454G>T (n.1454G>T)
c.1348G>T (p.Ala450Ser)
c.*191G>T (n.*191G>T)
c.1354G>T (p.Ala452Ser)
c.1330G>T (p.Ala444Ser)
c.1396G>T (p.Ala466Ser)
c.913G>T (p.Ala305Ser)
c.937G>T (p.Ala313Ser)
 gnomAD v4
5g.162153298C>ACA362183965GABRG2c.1359C>A
c.1454C>A (p.Ala485Asp)
c.1417C>A
n.612C>A
c.1049C>A (p.Ala350Asp)
c.1073C>A (p.Ala358Asp)
c.*3955C>A (n.*3955C>A)
c.1235C>A
c.725C>A (p.Ala242Asp)
c.1334C>A (p.Ala445Asp)
c.1358C>A (p.Ala453Asp)
c.2021C>A (n.2021C>A)
c.*1539C>A (n.*1539C>A)
c.*558C>A (n.*558C>A)
c.1292C>A (p.Ala431Asp)
c.1268C>A (p.Ala423Asp)
n.632C>A
n.6305C>A
c.796C>A
c.1271C>A (p.Ala424Asp)
c.1427C>A (p.Ala476Asp)
c.1478C>A (p.Ala493Asp)
c.*936C>A (n.*936C>A)
c.1455C>A (n.1455C>A)
c.1349C>A (p.Ala450Asp)
c.*192C>A (n.*192C>A)
c.1355C>A (p.Ala452Asp)
c.1331C>A (p.Ala444Asp)
c.1397C>A (p.Ala466Asp)
c.914C>A (p.Ala305Asp)
c.938C>A (p.Ala313Asp)
 ClinVar
5g.162153298C>GCA362183969GABRG2c.1359C>G
c.1454C>G (p.Ala485Gly)
c.1417C>G
n.612C>G
c.1049C>G (p.Ala350Gly)
c.1073C>G (p.Ala358Gly)
c.*3955C>G (n.*3955C>G)
c.1235C>G
c.725C>G (p.Ala242Gly)
c.1334C>G (p.Ala445Gly)
c.1358C>G (p.Ala453Gly)
c.2021C>G (n.2021C>G)
c.*1539C>G (n.*1539C>G)
c.*558C>G (n.*558C>G)
c.1292C>G (p.Ala431Gly)
c.1268C>G (p.Ala423Gly)
n.632C>G
n.6305C>G
c.796C>G
c.1271C>G (p.Ala424Gly)
c.1427C>G (p.Ala476Gly)
c.1478C>G (p.Ala493Gly)
c.*936C>G (n.*936C>G)
c.1455C>G (n.1455C>G)
c.1349C>G (p.Ala450Gly)
c.*192C>G (n.*192C>G)
c.1355C>G (p.Ala452Gly)
c.1331C>G (p.Ala444Gly)
c.1397C>G (p.Ala466Gly)
c.914C>G (p.Ala305Gly)
c.938C>G (p.Ala313Gly)
5g.162153298C>TCA362183967GABRG2c.1359C>T
c.1454C>T (p.Ala485Val)
c.1417C>T
n.612C>T
c.1049C>T (p.Ala350Val)
c.1073C>T (p.Ala358Val)
c.*3955C>T (n.*3955C>T)
c.1235C>T
c.725C>T (p.Ala242Val)
c.1334C>T (p.Ala445Val)
c.1358C>T (p.Ala453Val)
c.2021C>T (n.2021C>T)
c.*1539C>T (n.*1539C>T)
c.*558C>T (n.*558C>T)
c.1292C>T (p.Ala431Val)
c.1268C>T (p.Ala423Val)
n.632C>T
n.6305C>T
c.796C>T
c.1271C>T (p.Ala424Val)
c.1427C>T (p.Ala476Val)
c.1478C>T (p.Ala493Val)
c.*936C>T (n.*936C>T)
c.1455C>T (n.1455C>T)
c.1349C>T (p.Ala450Val)
c.*192C>T (n.*192C>T)
c.1355C>T (p.Ala452Val)
c.1331C>T (p.Ala444Val)
c.1397C>T (p.Ala466Val)
c.914C>T (p.Ala305Val)
c.938C>T (p.Ala313Val)
 ClinVar dbSNP
5g.162153299T>ACA447691968GABRG2c.1360T>A
c.1455T>A (p.Ala485=)
c.1418T>A
n.613T>A
c.1050T>A (p.Ala350=)
c.1074T>A (p.Ala358=)
c.*3956T>A (n.*3956T>A)
c.1236T>A
c.726T>A (p.Ala242=)
c.1335T>A (p.Ala445=)
c.1359T>A (p.Ala453=)
c.2022T>A (n.2022T>A)
c.*1540T>A (n.*1540T>A)
c.*559T>A (n.*559T>A)
c.1293T>A (p.Ala431=)
c.1269T>A (p.Ala423=)
n.633T>A
n.6306T>A
c.797T>A
c.1272T>A (p.Ala424=)
c.1428T>A (p.Ala476=)
c.1479T>A (p.Ala493=)
c.*937T>A (n.*937T>A)
c.1456T>A (n.1456T>A)
c.1350T>A (p.Ala450=)
c.*193T>A (n.*193T>A)
c.1356T>A (p.Ala452=)
c.1332T>A (p.Ala444=)
c.1398T>A (p.Ala466=)
c.915T>A (p.Ala305=)
c.939T>A (p.Ala313=)
5g.162153299T>CCA447691969GABRG2c.1360T>C
c.1455T>C (p.Ala485=)
c.1418T>C
n.613T>C
c.1050T>C (p.Ala350=)
c.1074T>C (p.Ala358=)
c.*3956T>C (n.*3956T>C)
c.1236T>C
c.726T>C (p.Ala242=)
c.1335T>C (p.Ala445=)
c.1359T>C (p.Ala453=)
c.2022T>C (n.2022T>C)
c.*1540T>C (n.*1540T>C)
c.*559T>C (n.*559T>C)
c.1293T>C (p.Ala431=)
c.1269T>C (p.Ala423=)
n.633T>C
n.6306T>C
c.797T>C
c.1272T>C (p.Ala424=)
c.1428T>C (p.Ala476=)
c.1479T>C (p.Ala493=)
c.*937T>C (n.*937T>C)
c.1456T>C (n.1456T>C)
c.1350T>C (p.Ala450=)
c.*193T>C (n.*193T>C)
c.1356T>C (p.Ala452=)
c.1332T>C (p.Ala444=)
c.1398T>C (p.Ala466=)
c.915T>C (p.Ala305=)
c.939T>C (p.Ala313=)
5g.162153299T>GCA447691967GABRG2c.1360T>G
c.1455T>G (p.Ala485=)
c.1418T>G
n.613T>G
c.1050T>G (p.Ala350=)
c.1074T>G (p.Ala358=)
c.*3956T>G (n.*3956T>G)
c.1236T>G
c.726T>G (p.Ala242=)
c.1335T>G (p.Ala445=)
c.1359T>G (p.Ala453=)
c.2022T>G (n.2022T>G)
c.*1540T>G (n.*1540T>G)
c.*559T>G (n.*559T>G)
c.1293T>G (p.Ala431=)
c.1269T>G (p.Ala423=)
n.633T>G
n.6306T>G
c.797T>G
c.1272T>G (p.Ala424=)
c.1428T>G (p.Ala476=)
c.1479T>G (p.Ala493=)
c.*937T>G (n.*937T>G)
c.1456T>G (n.1456T>G)
c.1350T>G (p.Ala450=)
c.*193T>G (n.*193T>G)
c.1356T>G (p.Ala452=)
c.1332T>G (p.Ala444=)
c.1398T>G (p.Ala466=)
c.915T>G (p.Ala305=)
c.939T>G (p.Ala313=)
 ClinVar dbSNP
5g.162153299T=CA1596382215GABRG2c.1360T=
c.1455T= (p.Ala485=)
c.1418T=
n.613T=
c.1050T= (p.Ala350=)
c.1074T= (p.Ala358=)
c.*3956T= (n.*3956T=)
c.1236T=
c.726T= (p.Ala242=)
c.1335T= (p.Ala445=)
c.1359T= (p.Ala453=)
c.2022T= (n.2022T=)
c.*1540T= (n.*1540T=)
c.*559T= (n.*559T=)
c.1293T= (p.Ala431=)
c.1269T= (p.Ala423=)
n.633T=
n.6306T=
c.797T=
c.1272T= (p.Ala424=)
c.1428T= (p.Ala476=)
c.1479T= (p.Ala493=)
c.*937T= (n.*937T=)
c.1456T= (n.1456T=)
c.1350T= (p.Ala450=)
c.*193T= (n.*193T=)
c.1356T= (p.Ala452=)
c.1332T= (p.Ala444=)
c.1398T= (p.Ala466=)
c.915T= (p.Ala305=)
c.939T= (p.Ala313=)
5g.162153300C>ACA447691970GABRG2c.1361C>A
c.1456C>A (p.Arg486=)
c.1419C>A
n.614C>A
c.1051C>A (p.Arg351=)
c.1075C>A (p.Arg359=)
c.*3957C>A (n.*3957C>A)
c.1237C>A
c.727C>A (p.Arg243=)
c.1336C>A (p.Arg446=)
c.1360C>A (p.Arg454=)
c.2023C>A (n.2023C>A)
c.*1541C>A (n.*1541C>A)
c.*560C>A (n.*560C>A)
c.1294C>A (p.Arg432=)
c.1270C>A (p.Arg424=)
n.634C>A
n.6307C>A
c.798C>A
c.1273C>A (p.Arg425=)
c.1429C>A (p.Arg477=)
c.1480C>A (p.Arg494=)
c.*938C>A (n.*938C>A)
c.1457C>A (n.1457C>A)
c.1351C>A (p.Arg451=)
c.*194C>A (n.*194C>A)
c.1357C>A (p.Arg453=)
c.1333C>A (p.Arg445=)
c.1399C>A (p.Arg467=)
c.916C>A (p.Arg306=)
c.940C>A (p.Arg314=)
 COSMIC
5g.162153300C=CA1596382219GABRG2c.1361C=
c.1456C= (p.Arg486=)
c.1419C=
n.614C=
c.1051C= (p.Arg351=)
c.1075C= (p.Arg359=)
c.*3957C= (n.*3957C=)
c.1237C=
c.727C= (p.Arg243=)
c.1336C= (p.Arg446=)
c.1360C= (p.Arg454=)
c.2023C= (n.2023C=)
c.*1541C= (n.*1541C=)
c.*560C= (n.*560C=)
c.1294C= (p.Arg432=)
c.1270C= (p.Arg424=)
n.634C=
n.6307C=
c.798C=
c.1273C= (p.Arg425=)
c.1429C= (p.Arg477=)
c.1480C= (p.Arg494=)
c.*938C= (n.*938C=)
c.1457C= (n.1457C=)
c.1351C= (p.Arg451=)
c.*194C= (n.*194C=)
c.1357C= (p.Arg453=)
c.1333C= (p.Arg445=)
c.1399C= (p.Arg467=)
c.916C= (p.Arg306=)
c.940C= (p.Arg314=)
5g.162153300C>GCA362183971GABRG2c.1361C>G
c.1456C>G (p.Arg486Gly)
c.1419C>G
n.614C>G
c.1051C>G (p.Arg351Gly)
c.1075C>G (p.Arg359Gly)
c.*3957C>G (n.*3957C>G)
c.1237C>G
c.727C>G (p.Arg243Gly)
c.1336C>G (p.Arg446Gly)
c.1360C>G (p.Arg454Gly)
c.2023C>G (n.2023C>G)
c.*1541C>G (n.*1541C>G)
c.*560C>G (n.*560C>G)
c.1294C>G (p.Arg432Gly)
c.1270C>G (p.Arg424Gly)
n.634C>G
n.6307C>G
c.798C>G
c.1273C>G (p.Arg425Gly)
c.1429C>G (p.Arg477Gly)
c.1480C>G (p.Arg494Gly)
c.*938C>G (n.*938C>G)
c.1457C>G (n.1457C>G)
c.1351C>G (p.Arg451Gly)
c.*194C>G (n.*194C>G)
c.1357C>G (p.Arg453Gly)
c.1333C>G (p.Arg445Gly)
c.1399C>G (p.Arg467Gly)
c.916C>G (p.Arg306Gly)
c.940C>G (p.Arg314Gly)
 gnomAD v4
5g.162153300C>TCA314753GABRG2c.1361C>T
c.1456C>T (p.Arg486Trp)
c.1419C>T
n.614C>T
c.1051C>T (p.Arg351Trp)
c.1075C>T (p.Arg359Trp)
c.*3957C>T (n.*3957C>T)
c.1237C>T
c.727C>T (p.Arg243Trp)
c.1336C>T (p.Arg446Trp)
c.1360C>T (p.Arg454Trp)
c.2023C>T (n.2023C>T)
c.*1541C>T (n.*1541C>T)
c.*560C>T (n.*560C>T)
c.1294C>T (p.Arg432Trp)
c.1270C>T (p.Arg424Trp)
n.634C>T
n.6307C>T
c.798C>T
c.1273C>T (p.Arg425Trp)
c.1429C>T (p.Arg477Trp)
c.1480C>T (p.Arg494Trp)
c.*938C>T (n.*938C>T)
c.1457C>T (n.1457C>T)
c.1351C>T (p.Arg451Trp)
c.*194C>T (n.*194C>T)
c.1357C>T (p.Arg453Trp)
c.1333C>T (p.Arg445Trp)
c.1399C>T (p.Arg467Trp)
c.916C>T (p.Arg306Trp)
c.940C>T (p.Arg314Trp)
 ClinVar dbSNP gnomAD v4 COSMIC
5g.162153301G>ACA131117677GABRG2c.1362G>A
c.1457G>A (p.Arg486Gln)
c.1420G>A
n.615G>A
c.1052G>A (p.Arg351Gln)
c.1076G>A (p.Arg359Gln)
c.*3958G>A (n.*3958G>A)
c.1238G>A
c.728G>A (p.Arg243Gln)
c.1337G>A (p.Arg446Gln)
c.1361G>A (p.Arg454Gln)
c.2024G>A (n.2024G>A)
c.*1542G>A (n.*1542G>A)
c.*561G>A (n.*561G>A)
c.1295G>A (p.Arg432Gln)
c.1271G>A (p.Arg424Gln)
n.635G>A
n.6308G>A
c.799G>A
c.1274G>A (p.Arg425Gln)
c.1430G>A (p.Arg477Gln)
c.1481G>A (p.Arg494Gln)
c.*939G>A (n.*939G>A)
c.1458G>A (n.1458G>A)
c.1352G>A (p.Arg451Gln)
c.*195G>A (n.*195G>A)
c.1358G>A (p.Arg453Gln)
c.1334G>A (p.Arg445Gln)
c.1400G>A (p.Arg467Gln)
c.917G>A (p.Arg306Gln)
c.941G>A (p.Arg314Gln)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
5g.162153301G>CCA362183974GABRG2c.1362G>C
c.1457G>C (p.Arg486Pro)
c.1420G>C
n.615G>C
c.1052G>C (p.Arg351Pro)
c.1076G>C (p.Arg359Pro)
c.*3958G>C (n.*3958G>C)
c.1238G>C
c.728G>C (p.Arg243Pro)
c.1337G>C (p.Arg446Pro)
c.1361G>C (p.Arg454Pro)
c.2024G>C (n.2024G>C)
c.*1542G>C (n.*1542G>C)
c.*561G>C (n.*561G>C)
c.1295G>C (p.Arg432Pro)
c.1271G>C (p.Arg424Pro)
n.635G>C
n.6308G>C
c.799G>C
c.1274G>C (p.Arg425Pro)
c.1430G>C (p.Arg477Pro)
c.1481G>C (p.Arg494Pro)
c.*939G>C (n.*939G>C)
c.1458G>C (n.1458G>C)
c.1352G>C (p.Arg451Pro)
c.*195G>C (n.*195G>C)
c.1358G>C (p.Arg453Pro)
c.1334G>C (p.Arg445Pro)
c.1400G>C (p.Arg467Pro)
c.917G>C (p.Arg306Pro)
c.941G>C (p.Arg314Pro)
5g.162153301G=CA1596382225GABRG2c.1362G=
c.1457G= (p.Arg486=)
c.1420G=
n.615G=
c.1052G= (p.Arg351=)
c.1076G= (p.Arg359=)
c.*3958G= (n.*3958G=)
c.1238G=
c.728G= (p.Arg243=)
c.1337G= (p.Arg446=)
c.1361G= (p.Arg454=)
c.2024G= (n.2024G=)
c.*1542G= (n.*1542G=)
c.*561G= (n.*561G=)
c.1295G= (p.Arg432=)
c.1271G= (p.Arg424=)
n.635G=
n.6308G=
c.799G=
c.1274G= (p.Arg425=)
c.1430G= (p.Arg477=)
c.1481G= (p.Arg494=)
c.*939G= (n.*939G=)
c.1458G= (n.1458G=)
c.1352G= (p.Arg451=)
c.*195G= (n.*195G=)
c.1358G= (p.Arg453=)
c.1334G= (p.Arg445=)
c.1400G= (p.Arg467=)
c.917G= (p.Arg306=)
c.941G= (p.Arg314=)
5g.162153301G>TCA362183976GABRG2c.1362G>T
c.1457G>T (p.Arg486Leu)
c.1420G>T
n.615G>T
c.1052G>T (p.Arg351Leu)
c.1076G>T (p.Arg359Leu)
c.*3958G>T (n.*3958G>T)
c.1238G>T
c.728G>T (p.Arg243Leu)
c.1337G>T (p.Arg446Leu)
c.1361G>T (p.Arg454Leu)
c.2024G>T (n.2024G>T)
c.*1542G>T (n.*1542G>T)
c.*561G>T (n.*561G>T)
c.1295G>T (p.Arg432Leu)
c.1271G>T (p.Arg424Leu)
n.635G>T
n.6308G>T
c.799G>T
c.1274G>T (p.Arg425Leu)
c.1430G>T (p.Arg477Leu)
c.1481G>T (p.Arg494Leu)
c.*939G>T (n.*939G>T)
c.1458G>T (n.1458G>T)
c.1352G>T (p.Arg451Leu)
c.*195G>T (n.*195G>T)
c.1358G>T (p.Arg453Leu)
c.1334G>T (p.Arg445Leu)
c.1400G>T (p.Arg467Leu)
c.917G>T (p.Arg306Leu)
c.941G>T (p.Arg314Leu)
5g.162153302G>ACA447691973GABRG2c.1363G>A
c.1458G>A (p.Arg486=)
c.1421G>A
n.616G>A
c.1053G>A (p.Arg351=)
c.1077G>A (p.Arg359=)
c.*3959G>A (n.*3959G>A)
c.1239G>A
c.729G>A (p.Arg243=)
c.1338G>A (p.Arg446=)
c.1362G>A (p.Arg454=)
c.2025G>A (n.2025G>A)
c.*1543G>A (n.*1543G>A)
c.*562G>A (n.*562G>A)
c.1296G>A (p.Arg432=)
c.1272G>A (p.Arg424=)
n.636G>A
n.6309G>A
c.800G>A
c.1275G>A (p.Arg425=)
c.1431G>A (p.Arg477=)
c.1482G>A (p.Arg494=)
c.*940G>A (n.*940G>A)
c.1459G>A (n.1459G>A)
c.1353G>A (p.Arg451=)
c.*196G>A (n.*196G>A)
c.1359G>A (p.Arg453=)
c.1335G>A (p.Arg445=)
c.1401G>A (p.Arg467=)
c.918G>A (p.Arg306=)
c.942G>A (p.Arg314=)
5g.162153302G>CCA447691971GABRG2c.1363G>C
c.1458G>C (p.Arg486=)
c.1421G>C
n.616G>C
c.1053G>C (p.Arg351=)
c.1077G>C (p.Arg359=)
c.*3959G>C (n.*3959G>C)
c.1239G>C
c.729G>C (p.Arg243=)
c.1338G>C (p.Arg446=)
c.1362G>C (p.Arg454=)
c.2025G>C (n.2025G>C)
c.*1543G>C (n.*1543G>C)
c.*562G>C (n.*562G>C)
c.1296G>C (p.Arg432=)
c.1272G>C (p.Arg424=)
n.636G>C
n.6309G>C
c.800G>C
c.1275G>C (p.Arg425=)
c.1431G>C (p.Arg477=)
c.1482G>C (p.Arg494=)
c.*940G>C (n.*940G>C)
c.1459G>C (n.1459G>C)
c.1353G>C (p.Arg451=)
c.*196G>C (n.*196G>C)
c.1359G>C (p.Arg453=)
c.1335G>C (p.Arg445=)
c.1401G>C (p.Arg467=)
c.918G>C (p.Arg306=)
c.942G>C (p.Arg314=)
 ClinVar dbSNP gnomAD v4
5g.162153302G>TCA447691972GABRG2c.1363G>T
c.1458G>T (p.Arg486=)
c.1421G>T
n.616G>T
c.1053G>T (p.Arg351=)
c.1077G>T (p.Arg359=)
c.*3959G>T (n.*3959G>T)
c.1239G>T
c.729G>T (p.Arg243=)
c.1338G>T (p.Arg446=)
c.1362G>T (p.Arg454=)
c.2025G>T (n.2025G>T)
c.*1543G>T (n.*1543G>T)
c.*562G>T (n.*562G>T)
c.1296G>T (p.Arg432=)
c.1272G>T (p.Arg424=)
n.636G>T
n.6309G>T
c.800G>T
c.1275G>T (p.Arg425=)
c.1431G>T (p.Arg477=)
c.1482G>T (p.Arg494=)
c.*940G>T (n.*940G>T)
c.1459G>T (n.1459G>T)
c.1353G>T (p.Arg451=)
c.*196G>T (n.*196G>T)
c.1359G>T (p.Arg453=)
c.1335G>T (p.Arg445=)
c.1401G>T (p.Arg467=)
c.918G>T (p.Arg306=)
c.942G>T (p.Arg314=)
5g.162153303A>CCA362183978GABRG2c.1364A>C
c.1459A>C (p.Ile487Leu)
c.1422A>C
n.617A>C
c.1054A>C (p.Ile352Leu)
c.1078A>C (p.Ile360Leu)
c.*3960A>C (n.*3960A>C)
c.1240A>C
c.730A>C (p.Ile244Leu)
c.1339A>C (p.Ile447Leu)
c.1363A>C (p.Ile455Leu)
c.2026A>C (n.2026A>C)
c.*1544A>C (n.*1544A>C)
c.*563A>C (n.*563A>C)
c.1297A>C (p.Ile433Leu)
c.1273A>C (p.Ile425Leu)
n.637A>C
n.6310A>C
c.801A>C
c.1276A>C (p.Ile426Leu)
c.1432A>C (p.Ile478Leu)
c.1483A>C (p.Ile495Leu)
c.*941A>C (n.*941A>C)
c.1460A>C (n.1460A>C)
c.1354A>C (p.Ile452Leu)
c.*197A>C (n.*197A>C)
c.1360A>C (p.Ile454Leu)
c.1336A>C (p.Ile446Leu)
c.1402A>C (p.Ile468Leu)
c.919A>C (p.Ile307Leu)
c.943A>C (p.Ile315Leu)
5g.162153303A>GCA362183980GABRG2c.1364A>G
c.1459A>G (p.Ile487Val)
c.1422A>G
n.617A>G
c.1054A>G (p.Ile352Val)
c.1078A>G (p.Ile360Val)
c.*3960A>G (n.*3960A>G)
c.1240A>G
c.730A>G (p.Ile244Val)
c.1339A>G (p.Ile447Val)
c.1363A>G (p.Ile455Val)
c.2026A>G (n.2026A>G)
c.*1544A>G (n.*1544A>G)
c.*563A>G (n.*563A>G)
c.1297A>G (p.Ile433Val)
c.1273A>G (p.Ile425Val)
n.637A>G
n.6310A>G
c.801A>G
c.1276A>G (p.Ile426Val)
c.1432A>G (p.Ile478Val)
c.1483A>G (p.Ile495Val)
c.*941A>G (n.*941A>G)
c.1460A>G (n.1460A>G)
c.1354A>G (p.Ile452Val)
c.*197A>G (n.*197A>G)
c.1360A>G (p.Ile454Val)
c.1336A>G (p.Ile446Val)
c.1402A>G (p.Ile468Val)
c.919A>G (p.Ile307Val)
c.943A>G (p.Ile315Val)
5g.162153303A>TCA362183982GABRG2c.1364A>T
c.1459A>T (p.Ile487Phe)
c.1422A>T
n.617A>T
c.1054A>T (p.Ile352Phe)
c.1078A>T (p.Ile360Phe)
c.*3960A>T (n.*3960A>T)
c.1240A>T
c.730A>T (p.Ile244Phe)
c.1339A>T (p.Ile447Phe)
c.1363A>T (p.Ile455Phe)
c.2026A>T (n.2026A>T)
c.*1544A>T (n.*1544A>T)
c.*563A>T (n.*563A>T)
c.1297A>T (p.Ile433Phe)
c.1273A>T (p.Ile425Phe)
n.637A>T
n.6310A>T
c.801A>T
c.1276A>T (p.Ile426Phe)
c.1432A>T (p.Ile478Phe)
c.1483A>T (p.Ile495Phe)
c.*941A>T (n.*941A>T)
c.1460A>T (n.1460A>T)
c.1354A>T (p.Ile452Phe)
c.*197A>T (n.*197A>T)
c.1360A>T (p.Ile454Phe)
c.1336A>T (p.Ile446Phe)
c.1402A>T (p.Ile468Phe)
c.919A>T (p.Ile307Phe)
c.943A>T (p.Ile315Phe)
5g.162153304T>ACA362183984GABRG2c.1365T>A
c.1460T>A (p.Ile487Asn)
c.1423T>A
n.618T>A
c.1055T>A (p.Ile352Asn)
c.1079T>A (p.Ile360Asn)
c.*3961T>A (n.*3961T>A)
c.1241T>A
c.731T>A (p.Ile244Asn)
c.1340T>A (p.Ile447Asn)
c.1364T>A (p.Ile455Asn)
c.2027T>A (n.2027T>A)
c.*1545T>A (n.*1545T>A)
c.*564T>A (n.*564T>A)
c.1298T>A (p.Ile433Asn)
c.1274T>A (p.Ile425Asn)
n.638T>A
n.6311T>A
c.802T>A
c.1277T>A (p.Ile426Asn)
c.1433T>A (p.Ile478Asn)
c.1484T>A (p.Ile495Asn)
c.*942T>A (n.*942T>A)
c.1461T>A (n.1461T>A)
c.1355T>A (p.Ile452Asn)
c.*198T>A (n.*198T>A)
c.1361T>A (p.Ile454Asn)
c.1337T>A (p.Ile446Asn)
c.1403T>A (p.Ile468Asn)
c.920T>A (p.Ile307Asn)
c.944T>A (p.Ile315Asn)
5g.162153304T>CCA362183986GABRG2c.1365T>C
c.1460T>C (p.Ile487Thr)
c.1423T>C
n.618T>C
c.1055T>C (p.Ile352Thr)
c.1079T>C (p.Ile360Thr)
c.*3961T>C (n.*3961T>C)
c.1241T>C
c.731T>C (p.Ile244Thr)
c.1340T>C (p.Ile447Thr)
c.1364T>C (p.Ile455Thr)
c.2027T>C (n.2027T>C)
c.*1545T>C (n.*1545T>C)
c.*564T>C (n.*564T>C)
c.1298T>C (p.Ile433Thr)
c.1274T>C (p.Ile425Thr)
n.638T>C
n.6311T>C
c.802T>C
c.1277T>C (p.Ile426Thr)
c.1433T>C (p.Ile478Thr)
c.1484T>C (p.Ile495Thr)
c.*942T>C (n.*942T>C)
c.1461T>C (n.1461T>C)
c.1355T>C (p.Ile452Thr)
c.*198T>C (n.*198T>C)
c.1361T>C (p.Ile454Thr)
c.1337T>C (p.Ile446Thr)
c.1403T>C (p.Ile468Thr)
c.920T>C (p.Ile307Thr)
c.944T>C (p.Ile315Thr)
5g.162153304T>GCA362183988GABRG2c.1365T>G
c.1460T>G (p.Ile487Ser)
c.1423T>G
n.618T>G
c.1055T>G (p.Ile352Ser)
c.1079T>G (p.Ile360Ser)
c.*3961T>G (n.*3961T>G)
c.1241T>G
c.731T>G (p.Ile244Ser)
c.1340T>G (p.Ile447Ser)
c.1364T>G (p.Ile455Ser)
c.2027T>G (n.2027T>G)
c.*1545T>G (n.*1545T>G)
c.*564T>G (n.*564T>G)
c.1298T>G (p.Ile433Ser)
c.1274T>G (p.Ile425Ser)
n.638T>G
n.6311T>G
c.802T>G
c.1277T>G (p.Ile426Ser)
c.1433T>G (p.Ile478Ser)
c.1484T>G (p.Ile495Ser)
c.*942T>G (n.*942T>G)
c.1461T>G (n.1461T>G)
c.1355T>G (p.Ile452Ser)
c.*198T>G (n.*198T>G)
c.1361T>G (p.Ile454Ser)
c.1337T>G (p.Ile446Ser)
c.1403T>G (p.Ile468Ser)
c.920T>G (p.Ile307Ser)
c.944T>G (p.Ile315Ser)
5g.162153305C>ACA447691974GABRG2c.1366C>A
c.1461C>A (p.Ile487=)
c.1424C>A
n.619C>A
c.1056C>A (p.Ile352=)
c.1080C>A (p.Ile360=)
c.*3962C>A (n.*3962C>A)
c.1242C>A
c.732C>A (p.Ile244=)
c.1341C>A (p.Ile447=)
c.1365C>A (p.Ile455=)
c.2028C>A (n.2028C>A)
c.*1546C>A (n.*1546C>A)
c.*565C>A (n.*565C>A)
c.1299C>A (p.Ile433=)
c.1275C>A (p.Ile425=)
n.639C>A
n.6312C>A
c.803C>A
c.1278C>A (p.Ile426=)
c.1434C>A (p.Ile478=)
c.1485C>A (p.Ile495=)
c.*943C>A (n.*943C>A)
c.1462C>A (n.1462C>A)
c.1356C>A (p.Ile452=)
c.*199C>A (n.*199C>A)
c.1362C>A (p.Ile454=)
c.1338C>A (p.Ile446=)
c.1404C>A (p.Ile468=)
c.921C>A (p.Ile307=)
c.945C>A (p.Ile315=)
 ClinVar dbSNP gnomAD v4
5g.162153305C=CA1596382227GABRG2c.1366C=
c.1461C= (p.Ile487=)
c.1424C=
n.619C=
c.1056C= (p.Ile352=)
c.1080C= (p.Ile360=)
c.*3962C= (n.*3962C=)
c.1242C=
c.732C= (p.Ile244=)
c.1341C= (p.Ile447=)
c.1365C= (p.Ile455=)
c.2028C= (n.2028C=)
c.*1546C= (n.*1546C=)
c.*565C= (n.*565C=)
c.1299C= (p.Ile433=)
c.1275C= (p.Ile425=)
n.639C=
n.6312C=
c.803C=
c.1278C= (p.Ile426=)
c.1434C= (p.Ile478=)
c.1485C= (p.Ile495=)
c.*943C= (n.*943C=)
c.1462C= (n.1462C=)
c.1356C= (p.Ile452=)
c.*199C= (n.*199C=)
c.1362C= (p.Ile454=)
c.1338C= (p.Ile446=)
c.1404C= (p.Ile468=)
c.921C= (p.Ile307=)
c.945C= (p.Ile315=)
5g.162153305C>GCA362183990GABRG2c.1366C>G
c.1461C>G (p.Ile487Met)
c.1424C>G
n.619C>G
c.1056C>G (p.Ile352Met)
c.1080C>G (p.Ile360Met)
c.*3962C>G (n.*3962C>G)
c.1242C>G
c.732C>G (p.Ile244Met)
c.1341C>G (p.Ile447Met)
c.1365C>G (p.Ile455Met)
c.2028C>G (n.2028C>G)
c.*1546C>G (n.*1546C>G)
c.*565C>G (n.*565C>G)
c.1299C>G (p.Ile433Met)
c.1275C>G (p.Ile425Met)
n.639C>G
n.6312C>G
c.803C>G
c.1278C>G (p.Ile426Met)
c.1434C>G (p.Ile478Met)
c.1485C>G (p.Ile495Met)
c.*943C>G (n.*943C>G)
c.1462C>G (n.1462C>G)
c.1356C>G (p.Ile452Met)
c.*199C>G (n.*199C>G)
c.1362C>G (p.Ile454Met)
c.1338C>G (p.Ile446Met)
c.1404C>G (p.Ile468Met)
c.921C>G (p.Ile307Met)
c.945C>G (p.Ile315Met)
5g.162153305C>TCA447691975GABRG2c.1366C>T
c.1461C>T (p.Ile487=)
c.1424C>T
n.619C>T
c.1056C>T (p.Ile352=)
c.1080C>T (p.Ile360=)
c.*3962C>T (n.*3962C>T)
c.1242C>T
c.732C>T (p.Ile244=)
c.1341C>T (p.Ile447=)
c.1365C>T (p.Ile455=)
c.2028C>T (n.2028C>T)
c.*1546C>T (n.*1546C>T)
c.*565C>T (n.*565C>T)
c.1299C>T (p.Ile433=)
c.1275C>T (p.Ile425=)
n.639C>T
n.6312C>T
c.803C>T
c.1278C>T (p.Ile426=)
c.1434C>T (p.Ile478=)
c.1485C>T (p.Ile495=)
c.*943C>T (n.*943C>T)
c.1462C>T (n.1462C>T)
c.1356C>T (p.Ile452=)
c.*199C>T (n.*199C>T)
c.1362C>T (p.Ile454=)
c.1338C>T (p.Ile446=)
c.1404C>T (p.Ile468=)
c.921C>T (p.Ile307=)
c.945C>T (p.Ile315=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.162153306T>ACA362183997GABRG2c.1367T>A
c.1462T>A (p.Phe488Ile)
c.1425T>A
n.620T>A
c.1057T>A (p.Phe353Ile)
c.1081T>A (p.Phe361Ile)
c.*3963T>A (n.*3963T>A)
c.1243T>A
c.733T>A (p.Phe245Ile)
c.1342T>A (p.Phe448Ile)
c.1366T>A (p.Phe456Ile)
c.2029T>A (n.2029T>A)
c.*1547T>A (n.*1547T>A)
c.*566T>A (n.*566T>A)
c.1300T>A (p.Phe434Ile)
c.1276T>A (p.Phe426Ile)
n.640T>A
n.6313T>A
c.804T>A
c.1279T>A (p.Phe427Ile)
c.1435T>A (p.Phe479Ile)
c.1486T>A (p.Phe496Ile)
c.*944T>A (n.*944T>A)
c.1463T>A (n.1463T>A)
c.1357T>A (p.Phe453Ile)
c.*200T>A (n.*200T>A)
c.1363T>A (p.Phe455Ile)
c.1339T>A (p.Phe447Ile)
c.1405T>A (p.Phe469Ile)
c.922T>A (p.Phe308Ile)
c.946T>A (p.Phe316Ile)
5g.162153306T>CCA362183995GABRG2c.1367T>C
c.1462T>C (p.Phe488Leu)
c.1425T>C
n.620T>C
c.1057T>C (p.Phe353Leu)
c.1081T>C (p.Phe361Leu)
c.*3963T>C (n.*3963T>C)
c.1243T>C
c.733T>C (p.Phe245Leu)
c.1342T>C (p.Phe448Leu)
c.1366T>C (p.Phe456Leu)
c.2029T>C (n.2029T>C)
c.*1547T>C (n.*1547T>C)
c.*566T>C (n.*566T>C)
c.1300T>C (p.Phe434Leu)
c.1276T>C (p.Phe426Leu)
n.640T>C
n.6313T>C
c.804T>C
c.1279T>C (p.Phe427Leu)
c.1435T>C (p.Phe479Leu)
c.1486T>C (p.Phe496Leu)
c.*944T>C (n.*944T>C)
c.1463T>C (n.1463T>C)
c.1357T>C (p.Phe453Leu)
c.*200T>C (n.*200T>C)
c.1363T>C (p.Phe455Leu)
c.1339T>C (p.Phe447Leu)
c.1405T>C (p.Phe469Leu)
c.922T>C (p.Phe308Leu)
c.946T>C (p.Phe316Leu)
5g.162153306T>GCA362183993GABRG2c.1367T>G
c.1462T>G (p.Phe488Val)
c.1425T>G
n.620T>G
c.1057T>G (p.Phe353Val)
c.1081T>G (p.Phe361Val)
c.*3963T>G (n.*3963T>G)
c.1243T>G
c.733T>G (p.Phe245Val)
c.1342T>G (p.Phe448Val)
c.1366T>G (p.Phe456Val)
c.2029T>G (n.2029T>G)
c.*1547T>G (n.*1547T>G)
c.*566T>G (n.*566T>G)
c.1300T>G (p.Phe434Val)
c.1276T>G (p.Phe426Val)
n.640T>G
n.6313T>G
c.804T>G
c.1279T>G (p.Phe427Val)
c.1435T>G (p.Phe479Val)
c.1486T>G (p.Phe496Val)
c.*944T>G (n.*944T>G)
c.1463T>G (n.1463T>G)
c.1357T>G (p.Phe453Val)
c.*200T>G (n.*200T>G)
c.1363T>G (p.Phe455Val)
c.1339T>G (p.Phe447Val)
c.1405T>G (p.Phe469Val)
c.922T>G (p.Phe308Val)
c.946T>G (p.Phe316Val)
5g.162153307_162153310delCA2740094180GABRG2c.1368_1371del
c.1463_1466del (p.Phe488SerfsTer?)
c.1426_1429del
n.621_624del
c.1058_1061del (p.Phe353SerfsTer?)
c.1082_1085del (p.Phe361SerfsTer?)
c.*3964_*3967del (n.*3964_*3967del)
c.1244_1247del
c.734_737del (p.Phe245SerfsTer?)
c.1343_1346del (p.Phe448SerfsTer?)
c.1367_1370del (p.Phe456SerfsTer?)
c.2030_2033del (n.2030_2033del)
c.*1548_*1551del (n.*1548_*1551del)
c.*567_*570del (n.*567_*570del)
c.1301_1304del (p.Phe434SerfsTer?)
c.1277_1280del (p.Phe426SerfsTer?)
n.641_644del
n.6314_6317del
c.805_808del
c.1280_1283del (p.Phe427SerfsTer?)
c.1436_1439del (p.Phe479SerfsTer?)
c.1487_1490del (p.Phe496SerfsTer?)
c.*945_*948del (n.*945_*948del)
c.1464_1467del (n.1464_1467del)
c.1358_1361del (p.Phe453SerfsTer?)
c.*201_*204del (n.*201_*204del)
c.1364_1367del (p.Phe455SerfsTer?)
c.1340_1343del (p.Phe447SerfsTer?)
c.1406_1409del (p.Phe469SerfsTer?)
c.923_926del (p.Phe308SerfsTer?)
c.947_950del (p.Phe316SerfsTer?)
 ClinVar
5g.162153307T>ACA362183999GABRG2c.1368T>A
c.1463T>A (p.Phe488Tyr)
c.1426T>A
n.621T>A
c.1058T>A (p.Phe353Tyr)
c.1082T>A (p.Phe361Tyr)
c.*3964T>A (n.*3964T>A)
c.1244T>A
c.734T>A (p.Phe245Tyr)
c.1343T>A (p.Phe448Tyr)
c.1367T>A (p.Phe456Tyr)
c.2030T>A (n.2030T>A)
c.*1548T>A (n.*1548T>A)
c.*567T>A (n.*567T>A)
c.1301T>A (p.Phe434Tyr)
c.1277T>A (p.Phe426Tyr)
n.641T>A
n.6314T>A
c.805T>A
c.1280T>A (p.Phe427Tyr)
c.1436T>A (p.Phe479Tyr)
c.1487T>A (p.Phe496Tyr)
c.*945T>A (n.*945T>A)
c.1464T>A (n.1464T>A)
c.1358T>A (p.Phe453Tyr)
c.*201T>A (n.*201T>A)
c.1364T>A (p.Phe455Tyr)
c.1340T>A (p.Phe447Tyr)
c.1406T>A (p.Phe469Tyr)
c.923T>A (p.Phe308Tyr)
c.947T>A (p.Phe316Tyr)
5g.162153307T>CCA362184001GABRG2c.1368T>C
c.1463T>C (p.Phe488Ser)
c.1426T>C
n.621T>C
c.1058T>C (p.Phe353Ser)
c.1082T>C (p.Phe361Ser)
c.*3964T>C (n.*3964T>C)
c.1244T>C
c.734T>C (p.Phe245Ser)
c.1343T>C (p.Phe448Ser)
c.1367T>C (p.Phe456Ser)
c.2030T>C (n.2030T>C)
c.*1548T>C (n.*1548T>C)
c.*567T>C (n.*567T>C)
c.1301T>C (p.Phe434Ser)
c.1277T>C (p.Phe426Ser)
n.641T>C
n.6314T>C
c.805T>C
c.1280T>C (p.Phe427Ser)
c.1436T>C (p.Phe479Ser)
c.1487T>C (p.Phe496Ser)
c.*945T>C (n.*945T>C)
c.1464T>C (n.1464T>C)
c.1358T>C (p.Phe453Ser)
c.*201T>C (n.*201T>C)
c.1364T>C (p.Phe455Ser)
c.1340T>C (p.Phe447Ser)
c.1406T>C (p.Phe469Ser)
c.923T>C (p.Phe308Ser)
c.947T>C (p.Phe316Ser)
5g.162153307T>GCA362184003GABRG2c.1368T>G
c.1463T>G (p.Phe488Cys)
c.1426T>G
n.621T>G
c.1058T>G (p.Phe353Cys)
c.1082T>G (p.Phe361Cys)
c.*3964T>G (n.*3964T>G)
c.1244T>G
c.734T>G (p.Phe245Cys)
c.1343T>G (p.Phe448Cys)
c.1367T>G (p.Phe456Cys)
c.2030T>G (n.2030T>G)
c.*1548T>G (n.*1548T>G)
c.*567T>G (n.*567T>G)
c.1301T>G (p.Phe434Cys)
c.1277T>G (p.Phe426Cys)
n.641T>G
n.6314T>G
c.805T>G
c.1280T>G (p.Phe427Cys)
c.1436T>G (p.Phe479Cys)
c.1487T>G (p.Phe496Cys)
c.*945T>G (n.*945T>G)
c.1464T>G (n.1464T>G)
c.1358T>G (p.Phe453Cys)
c.*201T>G (n.*201T>G)
c.1364T>G (p.Phe455Cys)
c.1340T>G (p.Phe447Cys)
c.1406T>G (p.Phe469Cys)
c.923T>G (p.Phe308Cys)
c.947T>G (p.Phe316Cys)
5g.162153308C>ACA362184005GABRG2c.1369C>A
c.1464C>A (p.Phe488Leu)
c.1427C>A
n.622C>A
c.1059C>A (p.Phe353Leu)
c.1083C>A (p.Phe361Leu)
c.*3965C>A (n.*3965C>A)
c.1245C>A
c.735C>A (p.Phe245Leu)
c.1344C>A (p.Phe448Leu)
c.1368C>A (p.Phe456Leu)
c.2031C>A (n.2031C>A)
c.*1549C>A (n.*1549C>A)
c.*568C>A (n.*568C>A)
c.1302C>A (p.Phe434Leu)
c.1278C>A (p.Phe426Leu)
n.642C>A
n.6315C>A
c.806C>A
c.1281C>A (p.Phe427Leu)
c.1437C>A (p.Phe479Leu)
c.1488C>A (p.Phe496Leu)
c.*946C>A (n.*946C>A)
c.1465C>A (n.1465C>A)
c.1359C>A (p.Phe453Leu)
c.*202C>A (n.*202C>A)
c.1365C>A (p.Phe455Leu)
c.1341C>A (p.Phe447Leu)
c.1407C>A (p.Phe469Leu)
c.924C>A (p.Phe308Leu)
c.948C>A (p.Phe316Leu)
5g.162153308C>GCA362184006GABRG2c.1369C>G
c.1464C>G (p.Phe488Leu)
c.1427C>G
n.622C>G
c.1059C>G (p.Phe353Leu)
c.1083C>G (p.Phe361Leu)
c.*3965C>G (n.*3965C>G)
c.1245C>G
c.735C>G (p.Phe245Leu)
c.1344C>G (p.Phe448Leu)
c.1368C>G (p.Phe456Leu)
c.2031C>G (n.2031C>G)
c.*1549C>G (n.*1549C>G)
c.*568C>G (n.*568C>G)
c.1302C>G (p.Phe434Leu)
c.1278C>G (p.Phe426Leu)
n.642C>G
n.6315C>G
c.806C>G
c.1281C>G (p.Phe427Leu)
c.1437C>G (p.Phe479Leu)
c.1488C>G (p.Phe496Leu)
c.*946C>G (n.*946C>G)
c.1465C>G (n.1465C>G)
c.1359C>G (p.Phe453Leu)
c.*202C>G (n.*202C>G)
c.1365C>G (p.Phe455Leu)
c.1341C>G (p.Phe447Leu)
c.1407C>G (p.Phe469Leu)
c.924C>G (p.Phe308Leu)
c.948C>G (p.Phe316Leu)
5g.162153308C>TCA447691977GABRG2c.1369C>T
c.1464C>T (p.Phe488=)
c.1427C>T
n.622C>T
c.1059C>T (p.Phe353=)
c.1083C>T (p.Phe361=)
c.*3965C>T (n.*3965C>T)
c.1245C>T
c.735C>T (p.Phe245=)
c.1344C>T (p.Phe448=)
c.1368C>T (p.Phe456=)
c.2031C>T (n.2031C>T)
c.*1549C>T (n.*1549C>T)
c.*568C>T (n.*568C>T)
c.1302C>T (p.Phe434=)
c.1278C>T (p.Phe426=)
n.642C>T
n.6315C>T
c.806C>T
c.1281C>T (p.Phe427=)
c.1437C>T (p.Phe479=)
c.1488C>T (p.Phe496=)
c.*946C>T (n.*946C>T)
c.1465C>T (n.1465C>T)
c.1359C>T (p.Phe453=)
c.*202C>T (n.*202C>T)
c.1365C>T (p.Phe455=)
c.1341C>T (p.Phe447=)
c.1407C>T (p.Phe469=)
c.924C>T (p.Phe308=)
c.948C>T (p.Phe316=)
 COSMIC
5g.162153309T>ACA362184008GABRG2c.1370T>A
c.1465T>A (p.Phe489Ile)
c.1428T>A
n.623T>A
c.1060T>A (p.Phe354Ile)
c.1084T>A (p.Phe362Ile)
c.*3966T>A (n.*3966T>A)
c.1246T>A
c.736T>A (p.Phe246Ile)
c.1345T>A (p.Phe449Ile)
c.1369T>A (p.Phe457Ile)
c.2032T>A (n.2032T>A)
c.*1550T>A (n.*1550T>A)
c.*569T>A (n.*569T>A)
c.1303T>A (p.Phe435Ile)
c.1279T>A (p.Phe427Ile)
n.643T>A
n.6316T>A
c.807T>A
c.1282T>A (p.Phe428Ile)
c.1438T>A (p.Phe480Ile)
c.1489T>A (p.Phe497Ile)
c.*947T>A (n.*947T>A)
c.1466T>A (n.1466T>A)
c.1360T>A (p.Phe454Ile)
c.*203T>A (n.*203T>A)
c.1366T>A (p.Phe456Ile)
c.1342T>A (p.Phe448Ile)
c.1408T>A (p.Phe470Ile)
c.925T>A (p.Phe309Ile)
c.949T>A (p.Phe317Ile)
5g.162153309T>CCA362184010GABRG2c.1370T>C
c.1465T>C (p.Phe489Leu)
c.1428T>C
n.623T>C
c.1060T>C (p.Phe354Leu)
c.1084T>C (p.Phe362Leu)
c.*3966T>C (n.*3966T>C)
c.1246T>C
c.736T>C (p.Phe246Leu)
c.1345T>C (p.Phe449Leu)
c.1369T>C (p.Phe457Leu)
c.2032T>C (n.2032T>C)
c.*1550T>C (n.*1550T>C)
c.*569T>C (n.*569T>C)
c.1303T>C (p.Phe435Leu)
c.1279T>C (p.Phe427Leu)
n.643T>C
n.6316T>C
c.807T>C
c.1282T>C (p.Phe428Leu)
c.1438T>C (p.Phe480Leu)
c.1489T>C (p.Phe497Leu)
c.*947T>C (n.*947T>C)
c.1466T>C (n.1466T>C)
c.1360T>C (p.Phe454Leu)
c.*203T>C (n.*203T>C)
c.1366T>C (p.Phe456Leu)
c.1342T>C (p.Phe448Leu)
c.1408T>C (p.Phe470Leu)
c.925T>C (p.Phe309Leu)
c.949T>C (p.Phe317Leu)
5g.162153309T>GCA362184011GABRG2c.1370T>G
c.1465T>G (p.Phe489Val)
c.1428T>G
n.623T>G
c.1060T>G (p.Phe354Val)
c.1084T>G (p.Phe362Val)
c.*3966T>G (n.*3966T>G)
c.1246T>G
c.736T>G (p.Phe246Val)
c.1345T>G (p.Phe449Val)
c.1369T>G (p.Phe457Val)
c.2032T>G (n.2032T>G)
c.*1550T>G (n.*1550T>G)
c.*569T>G (n.*569T>G)
c.1303T>G (p.Phe435Val)
c.1279T>G (p.Phe427Val)
n.643T>G
n.6316T>G
c.807T>G
c.1282T>G (p.Phe428Val)
c.1438T>G (p.Phe480Val)
c.1489T>G (p.Phe497Val)
c.*947T>G (n.*947T>G)
c.1466T>G (n.1466T>G)
c.1360T>G (p.Phe454Val)
c.*203T>G (n.*203T>G)
c.1366T>G (p.Phe456Val)
c.1342T>G (p.Phe448Val)
c.1408T>G (p.Phe470Val)
c.925T>G (p.Phe309Val)
c.949T>G (p.Phe317Val)
5g.162153310T>ACA362184013GABRG2c.1371T>A
c.1466T>A (p.Phe489Tyr)
c.1429T>A
n.624T>A
c.1061T>A (p.Phe354Tyr)
c.1085T>A (p.Phe362Tyr)
c.*3967T>A (n.*3967T>A)
c.1247T>A
c.737T>A (p.Phe246Tyr)
c.1346T>A (p.Phe449Tyr)
c.1370T>A (p.Phe457Tyr)
c.2033T>A (n.2033T>A)
c.*1551T>A (n.*1551T>A)
c.*570T>A (n.*570T>A)
c.1304T>A (p.Phe435Tyr)
c.1280T>A (p.Phe427Tyr)
n.644T>A
n.6317T>A
c.808T>A
c.1283T>A (p.Phe428Tyr)
c.1439T>A (p.Phe480Tyr)
c.1490T>A (p.Phe497Tyr)
c.*948T>A (n.*948T>A)
c.1467T>A (n.1467T>A)
c.1361T>A (p.Phe454Tyr)
c.*204T>A (n.*204T>A)
c.1367T>A (p.Phe456Tyr)
c.1343T>A (p.Phe448Tyr)
c.1409T>A (p.Phe470Tyr)
c.926T>A (p.Phe309Tyr)
c.950T>A (p.Phe317Tyr)
5g.162153310T>CCA362184015GABRG2c.1371T>C
c.1466T>C (p.Phe489Ser)
c.1429T>C
n.624T>C
c.1061T>C (p.Phe354Ser)
c.1085T>C (p.Phe362Ser)
c.*3967T>C (n.*3967T>C)
c.1247T>C
c.737T>C (p.Phe246Ser)
c.1346T>C (p.Phe449Ser)
c.1370T>C (p.Phe457Ser)
c.2033T>C (n.2033T>C)
c.*1551T>C (n.*1551T>C)
c.*570T>C (n.*570T>C)
c.1304T>C (p.Phe435Ser)
c.1280T>C (p.Phe427Ser)
n.644T>C
n.6317T>C
c.808T>C
c.1283T>C (p.Phe428Ser)
c.1439T>C (p.Phe480Ser)
c.1490T>C (p.Phe497Ser)
c.*948T>C (n.*948T>C)
c.1467T>C (n.1467T>C)
c.1361T>C (p.Phe454Ser)
c.*204T>C (n.*204T>C)
c.1367T>C (p.Phe456Ser)
c.1343T>C (p.Phe448Ser)
c.1409T>C (p.Phe470Ser)
c.926T>C (p.Phe309Ser)
c.950T>C (p.Phe317Ser)
5g.162153310T>GCA362184017GABRG2c.1371T>G
c.1466T>G (p.Phe489Cys)
c.1429T>G
n.624T>G
c.1061T>G (p.Phe354Cys)
c.1085T>G (p.Phe362Cys)
c.*3967T>G (n.*3967T>G)
c.1247T>G
c.737T>G (p.Phe246Cys)
c.1346T>G (p.Phe449Cys)
c.1370T>G (p.Phe457Cys)
c.2033T>G (n.2033T>G)
c.*1551T>G (n.*1551T>G)
c.*570T>G (n.*570T>G)
c.1304T>G (p.Phe435Cys)
c.1280T>G (p.Phe427Cys)
n.644T>G
n.6317T>G
c.808T>G
c.1283T>G (p.Phe428Cys)
c.1439T>G (p.Phe480Cys)
c.1490T>G (p.Phe497Cys)
c.*948T>G (n.*948T>G)
c.1467T>G (n.1467T>G)
c.1361T>G (p.Phe454Cys)
c.*204T>G (n.*204T>G)
c.1367T>G (p.Phe456Cys)
c.1343T>G (p.Phe448Cys)
c.1409T>G (p.Phe470Cys)
c.926T>G (p.Phe309Cys)
c.950T>G (p.Phe317Cys)
5g.162153311C>ACA362184019GABRG2c.1372C>A
c.1467C>A (p.Phe489Leu)
c.1430C>A
n.625C>A
c.1062C>A (p.Phe354Leu)
c.1086C>A (p.Phe362Leu)
c.*3968C>A (n.*3968C>A)
c.1248C>A
c.738C>A (p.Phe246Leu)
c.1347C>A (p.Phe449Leu)
c.1371C>A (p.Phe457Leu)
c.2034C>A (n.2034C>A)
c.*1552C>A (n.*1552C>A)
c.*571C>A (n.*571C>A)
c.1305C>A (p.Phe435Leu)
c.1281C>A (p.Phe427Leu)
n.645C>A
n.6318C>A
c.809C>A
c.1284C>A (p.Phe428Leu)
c.1440C>A (p.Phe480Leu)
c.1491C>A (p.Phe497Leu)
c.*949C>A (n.*949C>A)
c.1468C>A (n.1468C>A)
c.1362C>A (p.Phe454Leu)
c.*205C>A (n.*205C>A)
c.1368C>A (p.Phe456Leu)
c.1344C>A (p.Phe448Leu)
c.1410C>A (p.Phe470Leu)
c.927C>A (p.Phe309Leu)
c.951C>A (p.Phe317Leu)
5g.162153311C=CA1596382230GABRG2c.1372C=
c.1467C= (p.Phe489=)
c.1430C=
n.625C=
c.1062C= (p.Phe354=)
c.1086C= (p.Phe362=)
c.*3968C= (n.*3968C=)
c.1248C=
c.738C= (p.Phe246=)
c.1347C= (p.Phe449=)
c.1371C= (p.Phe457=)
c.2034C= (n.2034C=)
c.*1552C= (n.*1552C=)
c.*571C= (n.*571C=)
c.1305C= (p.Phe435=)
c.1281C= (p.Phe427=)
n.645C=
n.6318C=
c.809C=
c.1284C= (p.Phe428=)
c.1440C= (p.Phe480=)
c.1491C= (p.Phe497=)
c.*949C= (n.*949C=)
c.1468C= (n.1468C=)
c.1362C= (p.Phe454=)
c.*205C= (n.*205C=)
c.1368C= (p.Phe456=)
c.1344C= (p.Phe448=)
c.1410C= (p.Phe470=)
c.927C= (p.Phe309=)
c.951C= (p.Phe317=)
5g.162153311C>GCA362184020GABRG2c.1372C>G
c.1467C>G (p.Phe489Leu)
c.1430C>G
n.625C>G
c.1062C>G (p.Phe354Leu)
c.1086C>G (p.Phe362Leu)
c.*3968C>G (n.*3968C>G)
c.1248C>G
c.738C>G (p.Phe246Leu)
c.1347C>G (p.Phe449Leu)
c.1371C>G (p.Phe457Leu)
c.2034C>G (n.2034C>G)
c.*1552C>G (n.*1552C>G)
c.*571C>G (n.*571C>G)
c.1305C>G (p.Phe435Leu)
c.1281C>G (p.Phe427Leu)
n.645C>G
n.6318C>G
c.809C>G
c.1284C>G (p.Phe428Leu)
c.1440C>G (p.Phe480Leu)
c.1491C>G (p.Phe497Leu)
c.*949C>G (n.*949C>G)
c.1468C>G (n.1468C>G)
c.1362C>G (p.Phe454Leu)
c.*205C>G (n.*205C>G)
c.1368C>G (p.Phe456Leu)
c.1344C>G (p.Phe448Leu)
c.1410C>G (p.Phe470Leu)
c.927C>G (p.Phe309Leu)
c.951C>G (p.Phe317Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.162153311C>TCA447691979GABRG2c.1372C>T
c.1467C>T (p.Phe489=)
c.1430C>T
n.625C>T
c.1062C>T (p.Phe354=)
c.1086C>T (p.Phe362=)
c.*3968C>T (n.*3968C>T)
c.1248C>T
c.738C>T (p.Phe246=)
c.1347C>T (p.Phe449=)
c.1371C>T (p.Phe457=)
c.2034C>T (n.2034C>T)
c.*1552C>T (n.*1552C>T)
c.*571C>T (n.*571C>T)
c.1305C>T (p.Phe435=)
c.1281C>T (p.Phe427=)
n.645C>T
n.6318C>T
c.809C>T
c.1284C>T (p.Phe428=)
c.1440C>T (p.Phe480=)
c.1491C>T (p.Phe497=)
c.*949C>T (n.*949C>T)
c.1468C>T (n.1468C>T)
c.1362C>T (p.Phe454=)
c.*205C>T (n.*205C>T)
c.1368C>T (p.Phe456=)
c.1344C>T (p.Phe448=)
c.1410C>T (p.Phe470=)
c.927C>T (p.Phe309=)
c.951C>T (p.Phe317=)
5g.162153314delCA2695205691GABRG2c.1375del
c.1470del (p.Thr491LeufsTer?)
c.1433del
n.628del
c.1065del (p.Thr356LeufsTer?)
c.1089del (p.Thr364LeufsTer?)
c.*3971del (n.*3971del)
c.1251del
c.741del (p.Thr248LeufsTer?)
c.1350del (p.Thr451LeufsTer?)
c.1374del (p.Thr459LeufsTer?)
c.2037del (n.2037del)
c.*1555del (n.*1555del)
c.*574del (n.*574del)
c.1308del (p.Thr437LeufsTer?)
c.1284del (p.Thr429LeufsTer?)
n.648del
n.6321del
c.812del
c.1287del (p.Thr430LeufsTer?)
c.1443del (p.Thr482LeufsTer?)
c.1494del (p.Thr499LeufsTer?)
c.*952del (n.*952del)
c.1471del (n.1471del)
c.1365del (p.Thr456LeufsTer?)
c.*208del (n.*208del)
c.1371del (p.Thr458LeufsTer?)
c.1347del (p.Thr450LeufsTer?)
c.1413del (p.Thr472LeufsTer?)
c.930del (p.Thr311LeufsTer?)
c.954del (p.Thr319LeufsTer?)
5g.162153312C>ACA362184024GABRG2c.1373C>A
c.1468C>A (p.Pro490Thr)
c.1431C>A
n.626C>A
c.1063C>A (p.Pro355Thr)
c.1087C>A (p.Pro363Thr)
c.*3969C>A (n.*3969C>A)
c.1249C>A
c.739C>A (p.Pro247Thr)
c.1348C>A (p.Pro450Thr)
c.1372C>A (p.Pro458Thr)
c.2035C>A (n.2035C>A)
c.*1553C>A (n.*1553C>A)
c.*572C>A (n.*572C>A)
c.1306C>A (p.Pro436Thr)
c.1282C>A (p.Pro428Thr)
n.646C>A
n.6319C>A
c.810C>A
c.1285C>A (p.Pro429Thr)
c.1441C>A (p.Pro481Thr)
c.1492C>A (p.Pro498Thr)
c.*950C>A (n.*950C>A)
c.1469C>A (n.1469C>A)
c.1363C>A (p.Pro455Thr)
c.*206C>A (n.*206C>A)
c.1369C>A (p.Pro457Thr)
c.1345C>A (p.Pro449Thr)
c.1411C>A (p.Pro471Thr)
c.928C>A (p.Pro310Thr)
c.952C>A (p.Pro318Thr)
5g.162153312C>GCA362184025GABRG2c.1373C>G
c.1468C>G (p.Pro490Ala)
c.1431C>G
n.626C>G
c.1063C>G (p.Pro355Ala)
c.1087C>G (p.Pro363Ala)
c.*3969C>G (n.*3969C>G)
c.1249C>G
c.739C>G (p.Pro247Ala)
c.1348C>G (p.Pro450Ala)
c.1372C>G (p.Pro458Ala)
c.2035C>G (n.2035C>G)
c.*1553C>G (n.*1553C>G)
c.*572C>G (n.*572C>G)
c.1306C>G (p.Pro436Ala)
c.1282C>G (p.Pro428Ala)
n.646C>G
n.6319C>G
c.810C>G
c.1285C>G (p.Pro429Ala)
c.1441C>G (p.Pro481Ala)
c.1492C>G (p.Pro498Ala)
c.*950C>G (n.*950C>G)
c.1469C>G (n.1469C>G)
c.1363C>G (p.Pro455Ala)
c.*206C>G (n.*206C>G)
c.1369C>G (p.Pro457Ala)
c.1345C>G (p.Pro449Ala)
c.1411C>G (p.Pro471Ala)
c.928C>G (p.Pro310Ala)
c.952C>G (p.Pro318Ala)
5g.162153312C>TCA362184022GABRG2c.1373C>T
c.1468C>T (p.Pro490Ser)
c.1431C>T
n.626C>T
c.1063C>T (p.Pro355Ser)
c.1087C>T (p.Pro363Ser)
c.*3969C>T (n.*3969C>T)
c.1249C>T
c.739C>T (p.Pro247Ser)
c.1348C>T (p.Pro450Ser)
c.1372C>T (p.Pro458Ser)
c.2035C>T (n.2035C>T)
c.*1553C>T (n.*1553C>T)
c.*572C>T (n.*572C>T)
c.1306C>T (p.Pro436Ser)
c.1282C>T (p.Pro428Ser)
n.646C>T
n.6319C>T
c.810C>T
c.1285C>T (p.Pro429Ser)
c.1441C>T (p.Pro481Ser)
c.1492C>T (p.Pro498Ser)
c.*950C>T (n.*950C>T)
c.1469C>T (n.1469C>T)
c.1363C>T (p.Pro455Ser)
c.*206C>T (n.*206C>T)
c.1369C>T (p.Pro457Ser)
c.1345C>T (p.Pro449Ser)
c.1411C>T (p.Pro471Ser)
c.928C>T (p.Pro310Ser)
c.952C>T (p.Pro318Ser)
 COSMIC
5g.162153313C>ACA362184027GABRG2c.1374C>A
c.1469C>A (p.Pro490His)
c.1432C>A
n.627C>A
c.1064C>A (p.Pro355His)
c.1088C>A (p.Pro363His)
c.*3970C>A (n.*3970C>A)
c.1250C>A
c.740C>A (p.Pro247His)
c.1349C>A (p.Pro450His)
c.1373C>A (p.Pro458His)
c.2036C>A (n.2036C>A)
c.*1554C>A (n.*1554C>A)
c.*573C>A (n.*573C>A)
c.1307C>A (p.Pro436His)
c.1283C>A (p.Pro428His)
n.647C>A
n.6320C>A
c.811C>A
c.1286C>A (p.Pro429His)
c.1442C>A (p.Pro481His)
c.1493C>A (p.Pro498His)
c.*951C>A (n.*951C>A)
c.1470C>A (n.1470C>A)
c.1364C>A (p.Pro455His)
c.*207C>A (n.*207C>A)
c.1370C>A (p.Pro457His)
c.1346C>A (p.Pro449His)
c.1412C>A (p.Pro471His)
c.929C>A (p.Pro310His)
c.953C>A (p.Pro318His)
5g.162153313C>GCA362184029GABRG2c.1374C>G
c.1469C>G (p.Pro490Arg)
c.1432C>G
n.627C>G
c.1064C>G (p.Pro355Arg)
c.1088C>G (p.Pro363Arg)
c.*3970C>G (n.*3970C>G)
c.1250C>G
c.740C>G (p.Pro247Arg)
c.1349C>G (p.Pro450Arg)
c.1373C>G (p.Pro458Arg)
c.2036C>G (n.2036C>G)
c.*1554C>G (n.*1554C>G)
c.*573C>G (n.*573C>G)
c.1307C>G (p.Pro436Arg)
c.1283C>G (p.Pro428Arg)
n.647C>G
n.6320C>G
c.811C>G
c.1286C>G (p.Pro429Arg)
c.1442C>G (p.Pro481Arg)
c.1493C>G (p.Pro498Arg)
c.*951C>G (n.*951C>G)
c.1470C>G (n.1470C>G)
c.1364C>G (p.Pro455Arg)
c.*207C>G (n.*207C>G)
c.1370C>G (p.Pro457Arg)
c.1346C>G (p.Pro449Arg)
c.1412C>G (p.Pro471Arg)
c.929C>G (p.Pro310Arg)
c.953C>G (p.Pro318Arg)
5g.162153313C>TCA362184030GABRG2c.1374C>T
c.1469C>T (p.Pro490Leu)
c.1432C>T
n.627C>T
c.1064C>T (p.Pro355Leu)
c.1088C>T (p.Pro363Leu)
c.*3970C>T (n.*3970C>T)
c.1250C>T
c.740C>T (p.Pro247Leu)
c.1349C>T (p.Pro450Leu)
c.1373C>T (p.Pro458Leu)
c.2036C>T (n.2036C>T)
c.*1554C>T (n.*1554C>T)
c.*573C>T (n.*573C>T)
c.1307C>T (p.Pro436Leu)
c.1283C>T (p.Pro428Leu)
n.647C>T
n.6320C>T
c.811C>T
c.1286C>T (p.Pro429Leu)
c.1442C>T (p.Pro481Leu)
c.1493C>T (p.Pro498Leu)
c.*951C>T (n.*951C>T)
c.1470C>T (n.1470C>T)
c.1364C>T (p.Pro455Leu)
c.*207C>T (n.*207C>T)
c.1370C>T (p.Pro457Leu)
c.1346C>T (p.Pro449Leu)
c.1412C>T (p.Pro471Leu)
c.929C>T (p.Pro310Leu)
c.953C>T (p.Pro318Leu)
5g.162153314C>ACA447691982GABRG2c.1375C>A
c.1470C>A (p.Pro490=)
c.1433C>A
n.628C>A
c.1065C>A (p.Pro355=)
c.1089C>A (p.Pro363=)
c.*3971C>A (n.*3971C>A)
c.1251C>A
c.741C>A (p.Pro247=)
c.1350C>A (p.Pro450=)
c.1374C>A (p.Pro458=)
c.2037C>A (n.2037C>A)
c.*1555C>A (n.*1555C>A)
c.*574C>A (n.*574C>A)
c.1308C>A (p.Pro436=)
c.1284C>A (p.Pro428=)
n.648C>A
n.6321C>A
c.812C>A
c.1287C>A (p.Pro429=)
c.1443C>A (p.Pro481=)
c.1494C>A (p.Pro498=)
c.*952C>A (n.*952C>A)
c.1471C>A (n.1471C>A)
c.1365C>A (p.Pro455=)
c.*208C>A (n.*208C>A)
c.1371C>A (p.Pro457=)
c.1347C>A (p.Pro449=)
c.1413C>A (p.Pro471=)
c.930C>A (p.Pro310=)
c.954C>A (p.Pro318=)
 gnomAD v4
5g.162153314C>GCA447691984GABRG2c.1375C>G
c.1470C>G (p.Pro490=)
c.1433C>G
n.628C>G
c.1065C>G (p.Pro355=)
c.1089C>G (p.Pro363=)
c.*3971C>G (n.*3971C>G)
c.1251C>G
c.741C>G (p.Pro247=)
c.1350C>G (p.Pro450=)
c.1374C>G (p.Pro458=)
c.2037C>G (n.2037C>G)
c.*1555C>G (n.*1555C>G)
c.*574C>G (n.*574C>G)
c.1308C>G (p.Pro436=)
c.1284C>G (p.Pro428=)
n.648C>G
n.6321C>G
c.812C>G
c.1287C>G (p.Pro429=)
c.1443C>G (p.Pro481=)
c.1494C>G (p.Pro498=)
c.*952C>G (n.*952C>G)
c.1471C>G (n.1471C>G)
c.1365C>G (p.Pro455=)
c.*208C>G (n.*208C>G)
c.1371C>G (p.Pro457=)
c.1347C>G (p.Pro449=)
c.1413C>G (p.Pro471=)
c.930C>G (p.Pro310=)
c.954C>G (p.Pro318=)
5g.162153314C>TCA447691985GABRG2c.1375C>T
c.1470C>T (p.Pro490=)
c.1433C>T
n.628C>T
c.1065C>T (p.Pro355=)
c.1089C>T (p.Pro363=)
c.*3971C>T (n.*3971C>T)
c.1251C>T
c.741C>T (p.Pro247=)
c.1350C>T (p.Pro450=)
c.1374C>T (p.Pro458=)
c.2037C>T (n.2037C>T)
c.*1555C>T (n.*1555C>T)
c.*574C>T (n.*574C>T)
c.1308C>T (p.Pro436=)
c.1284C>T (p.Pro428=)
n.648C>T
n.6321C>T
c.812C>T
c.1287C>T (p.Pro429=)
c.1443C>T (p.Pro481=)
c.1494C>T (p.Pro498=)
c.*952C>T (n.*952C>T)
c.1471C>T (n.1471C>T)
c.1365C>T (p.Pro455=)
c.*208C>T (n.*208C>T)
c.1371C>T (p.Pro457=)
c.1347C>T (p.Pro449=)
c.1413C>T (p.Pro471=)
c.930C>T (p.Pro310=)
c.954C>T (p.Pro318=)
5g.162153315A>CCA362184032GABRG2c.1376A>C
c.1471A>C (p.Thr491Pro)
c.1434A>C
n.629A>C
c.1066A>C (p.Thr356Pro)
c.1090A>C (p.Thr364Pro)
c.*3972A>C (n.*3972A>C)
c.1252A>C
c.742A>C (p.Thr248Pro)
c.1351A>C (p.Thr451Pro)
c.1375A>C (p.Thr459Pro)
c.2038A>C (n.2038A>C)
c.*1556A>C (n.*1556A>C)
c.*575A>C (n.*575A>C)
c.1309A>C (p.Thr437Pro)
c.1285A>C (p.Thr429Pro)
n.649A>C
n.6322A>C
c.813A>C
c.1288A>C (p.Thr430Pro)
c.1444A>C (p.Thr482Pro)
c.1495A>C (p.Thr499Pro)
c.*953A>C (n.*953A>C)
c.1472A>C (n.1472A>C)
c.1366A>C (p.Thr456Pro)
c.*209A>C (n.*209A>C)
c.1372A>C (p.Thr458Pro)
c.1348A>C (p.Thr450Pro)
c.1414A>C (p.Thr472Pro)
c.931A>C (p.Thr311Pro)
c.955A>C (p.Thr319Pro)
5g.162153315A>GCA362184035GABRG2c.1376A>G
c.1471A>G (p.Thr491Ala)
c.1434A>G
n.629A>G
c.1066A>G (p.Thr356Ala)
c.1090A>G (p.Thr364Ala)
c.*3972A>G (n.*3972A>G)
c.1252A>G
c.742A>G (p.Thr248Ala)
c.1351A>G (p.Thr451Ala)
c.1375A>G (p.Thr459Ala)
c.2038A>G (n.2038A>G)
c.*1556A>G (n.*1556A>G)
c.*575A>G (n.*575A>G)
c.1309A>G (p.Thr437Ala)
c.1285A>G (p.Thr429Ala)
n.649A>G
n.6322A>G
c.813A>G
c.1288A>G (p.Thr430Ala)
c.1444A>G (p.Thr482Ala)
c.1495A>G (p.Thr499Ala)
c.*953A>G (n.*953A>G)
c.1472A>G (n.1472A>G)
c.1366A>G (p.Thr456Ala)
c.*209A>G (n.*209A>G)
c.1372A>G (p.Thr458Ala)
c.1348A>G (p.Thr450Ala)
c.1414A>G (p.Thr472Ala)
c.931A>G (p.Thr311Ala)
c.955A>G (p.Thr319Ala)
5g.162153315A>TCA362184037GABRG2c.1376A>T
c.1471A>T (p.Thr491Ser)
c.1434A>T
n.629A>T
c.1066A>T (p.Thr356Ser)
c.1090A>T (p.Thr364Ser)
c.*3972A>T (n.*3972A>T)
c.1252A>T
c.742A>T (p.Thr248Ser)
c.1351A>T (p.Thr451Ser)
c.1375A>T (p.Thr459Ser)
c.2038A>T (n.2038A>T)
c.*1556A>T (n.*1556A>T)
c.*575A>T (n.*575A>T)
c.1309A>T (p.Thr437Ser)
c.1285A>T (p.Thr429Ser)
n.649A>T
n.6322A>T
c.813A>T
c.1288A>T (p.Thr430Ser)
c.1444A>T (p.Thr482Ser)
c.1495A>T (p.Thr499Ser)
c.*953A>T (n.*953A>T)
c.1472A>T (n.1472A>T)
c.1366A>T (p.Thr456Ser)
c.*209A>T (n.*209A>T)
c.1372A>T (p.Thr458Ser)
c.1348A>T (p.Thr450Ser)
c.1414A>T (p.Thr472Ser)
c.931A>T (p.Thr311Ser)
c.955A>T (p.Thr319Ser)
5g.162153316C>ACA362184039GABRG2c.1377C>A
c.1472C>A (p.Thr491Asn)
c.1435C>A
n.630C>A
c.1067C>A (p.Thr356Asn)
c.1091C>A (p.Thr364Asn)
c.*3973C>A (n.*3973C>A)
c.1253C>A
c.743C>A (p.Thr248Asn)
c.1352C>A (p.Thr451Asn)
c.1376C>A (p.Thr459Asn)
c.2039C>A (n.2039C>A)
c.*1557C>A (n.*1557C>A)
c.*576C>A (n.*576C>A)
c.1310C>A (p.Thr437Asn)
c.1286C>A (p.Thr429Asn)
n.650C>A
n.6323C>A
c.814C>A
c.1289C>A (p.Thr430Asn)
c.1445C>A (p.Thr482Asn)
c.1496C>A (p.Thr499Asn)
c.*954C>A (n.*954C>A)
c.1473C>A (n.1473C>A)
c.1367C>A (p.Thr456Asn)
c.*210C>A (n.*210C>A)
c.1373C>A (p.Thr458Asn)
c.1349C>A (p.Thr450Asn)
c.1415C>A (p.Thr472Asn)
c.932C>A (p.Thr311Asn)
c.956C>A (p.Thr319Asn)
5g.162153316C>GCA362184041GABRG2c.1377C>G
c.1472C>G (p.Thr491Ser)
c.1435C>G
n.630C>G
c.1067C>G (p.Thr356Ser)
c.1091C>G (p.Thr364Ser)
c.*3973C>G (n.*3973C>G)
c.1253C>G
c.743C>G (p.Thr248Ser)
c.1352C>G (p.Thr451Ser)
c.1376C>G (p.Thr459Ser)
c.2039C>G (n.2039C>G)
c.*1557C>G (n.*1557C>G)
c.*576C>G (n.*576C>G)
c.1310C>G (p.Thr437Ser)
c.1286C>G (p.Thr429Ser)
n.650C>G
n.6323C>G
c.814C>G
c.1289C>G (p.Thr430Ser)
c.1445C>G (p.Thr482Ser)
c.1496C>G (p.Thr499Ser)
c.*954C>G (n.*954C>G)
c.1473C>G (n.1473C>G)
c.1367C>G (p.Thr456Ser)
c.*210C>G (n.*210C>G)
c.1373C>G (p.Thr458Ser)
c.1349C>G (p.Thr450Ser)
c.1415C>G (p.Thr472Ser)
c.932C>G (p.Thr311Ser)
c.956C>G (p.Thr319Ser)
5g.162153316C>TCA362184043GABRG2c.1377C>T
c.1472C>T (p.Thr491Ile)
c.1435C>T
n.630C>T
c.1067C>T (p.Thr356Ile)
c.1091C>T (p.Thr364Ile)
c.*3973C>T (n.*3973C>T)
c.1253C>T
c.743C>T (p.Thr248Ile)
c.1352C>T (p.Thr451Ile)
c.1376C>T (p.Thr459Ile)
c.2039C>T (n.2039C>T)
c.*1557C>T (n.*1557C>T)
c.*576C>T (n.*576C>T)
c.1310C>T (p.Thr437Ile)
c.1286C>T (p.Thr429Ile)
n.650C>T
n.6323C>T
c.814C>T
c.1289C>T (p.Thr430Ile)
c.1445C>T (p.Thr482Ile)
c.1496C>T (p.Thr499Ile)
c.*954C>T (n.*954C>T)
c.1473C>T (n.1473C>T)
c.1367C>T (p.Thr456Ile)
c.*210C>T (n.*210C>T)
c.1373C>T (p.Thr458Ile)
c.1349C>T (p.Thr450Ile)
c.1415C>T (p.Thr472Ile)
c.932C>T (p.Thr311Ile)
c.956C>T (p.Thr319Ile)
5g.162153317T>ACA447691989GABRG2c.1378T>A
c.1473T>A (p.Thr491=)
c.1436T>A
n.631T>A
c.1068T>A (p.Thr356=)
c.1092T>A (p.Thr364=)
c.*3974T>A (n.*3974T>A)
c.1254T>A
c.744T>A (p.Thr248=)
c.1353T>A (p.Thr451=)
c.1377T>A (p.Thr459=)
c.2040T>A (n.2040T>A)
c.*1558T>A (n.*1558T>A)
c.*577T>A (n.*577T>A)
c.1311T>A (p.Thr437=)
c.1287T>A (p.Thr429=)
n.651T>A
n.6324T>A
c.815T>A
c.1290T>A (p.Thr430=)
c.1446T>A (p.Thr482=)
c.1497T>A (p.Thr499=)
c.*955T>A (n.*955T>A)
c.1474T>A (n.1474T>A)
c.1368T>A (p.Thr456=)
c.*211T>A (n.*211T>A)
c.1374T>A (p.Thr458=)
c.1350T>A (p.Thr450=)
c.1416T>A (p.Thr472=)
c.933T>A (p.Thr311=)
c.957T>A (p.Thr319=)
 dbSNP gnomAD v2 gnomAD v4
5g.162153317T>CCA447691990GABRG2c.1378T>C
c.1473T>C (p.Thr491=)
c.1436T>C
n.631T>C
c.1068T>C (p.Thr356=)
c.1092T>C (p.Thr364=)
c.*3974T>C (n.*3974T>C)
c.1254T>C
c.744T>C (p.Thr248=)
c.1353T>C (p.Thr451=)
c.1377T>C (p.Thr459=)
c.2040T>C (n.2040T>C)
c.*1558T>C (n.*1558T>C)
c.*577T>C (n.*577T>C)
c.1311T>C (p.Thr437=)
c.1287T>C (p.Thr429=)
n.651T>C
n.6324T>C
c.815T>C
c.1290T>C (p.Thr430=)
c.1446T>C (p.Thr482=)
c.1497T>C (p.Thr499=)
c.*955T>C (n.*955T>C)
c.1474T>C (n.1474T>C)
c.1368T>C (p.Thr456=)
c.*211T>C (n.*211T>C)
c.1374T>C (p.Thr458=)
c.1350T>C (p.Thr450=)
c.1416T>C (p.Thr472=)
c.933T>C (p.Thr311=)
c.957T>C (p.Thr319=)
 gnomAD v4
5g.162153317T>GCA447691991GABRG2c.1378T>G
c.1473T>G (p.Thr491=)
c.1436T>G
n.631T>G
c.1068T>G (p.Thr356=)
c.1092T>G (p.Thr364=)
c.*3974T>G (n.*3974T>G)
c.1254T>G
c.744T>G (p.Thr248=)
c.1353T>G (p.Thr451=)
c.1377T>G (p.Thr459=)
c.2040T>G (n.2040T>G)
c.*1558T>G (n.*1558T>G)
c.*577T>G (n.*577T>G)
c.1311T>G (p.Thr437=)
c.1287T>G (p.Thr429=)
n.651T>G
n.6324T>G
c.815T>G
c.1290T>G (p.Thr430=)
c.1446T>G (p.Thr482=)
c.1497T>G (p.Thr499=)
c.*955T>G (n.*955T>G)
c.1474T>G (n.1474T>G)
c.1368T>G (p.Thr456=)
c.*211T>G (n.*211T>G)
c.1374T>G (p.Thr458=)
c.1350T>G (p.Thr450=)
c.1416T>G (p.Thr472=)
c.933T>G (p.Thr311=)
c.957T>G (p.Thr319=)
5g.162153317T=CA1596382233GABRG2c.1378T=
c.1473T= (p.Thr491=)
c.1436T=
n.631T=
c.1068T= (p.Thr356=)
c.1092T= (p.Thr364=)
c.*3974T= (n.*3974T=)
c.1254T=
c.744T= (p.Thr248=)
c.1353T= (p.Thr451=)
c.1377T= (p.Thr459=)
c.2040T= (n.2040T=)
c.*1558T= (n.*1558T=)
c.*577T= (n.*577T=)
c.1311T= (p.Thr437=)
c.1287T= (p.Thr429=)
n.651T=
n.6324T=
c.815T=
c.1290T= (p.Thr430=)
c.1446T= (p.Thr482=)
c.1497T= (p.Thr499=)
c.*955T= (n.*955T=)
c.1474T= (n.1474T=)
c.1368T= (p.Thr456=)
c.*211T= (n.*211T=)
c.1374T= (p.Thr458=)
c.1350T= (p.Thr450=)
c.1416T= (p.Thr472=)
c.933T= (p.Thr311=)
c.957T= (p.Thr319=)
5g.162153318G>ACA362184045GABRG2c.1379G>A
c.1474G>A (p.Ala492Thr)
c.1437G>A
n.632G>A
c.1069G>A (p.Ala357Thr)
c.1093G>A (p.Ala365Thr)
c.*3975G>A (n.*3975G>A)
c.1255G>A
c.745G>A (p.Ala249Thr)
c.1354G>A (p.Ala452Thr)
c.1378G>A (p.Ala460Thr)
c.2041G>A (n.2041G>A)
c.*1559G>A (n.*1559G>A)
c.*578G>A (n.*578G>A)
c.1312G>A (p.Ala438Thr)
c.1288G>A (p.Ala430Thr)
n.652G>A
n.6325G>A
c.816G>A
c.1291G>A (p.Ala431Thr)
c.1447G>A (p.Ala483Thr)
c.1498G>A (p.Ala500Thr)
c.*956G>A (n.*956G>A)
c.1475G>A (n.1475G>A)
c.1369G>A (p.Ala457Thr)
c.*212G>A (n.*212G>A)
c.1375G>A (p.Ala459Thr)
c.1351G>A (p.Ala451Thr)
c.1417G>A (p.Ala473Thr)
c.934G>A (p.Ala312Thr)
c.958G>A (p.Ala320Thr)
5g.162153318G>CCA362184047GABRG2c.1379G>C
c.1474G>C (p.Ala492Pro)
c.1437G>C
n.632G>C
c.1069G>C (p.Ala357Pro)
c.1093G>C (p.Ala365Pro)
c.*3975G>C (n.*3975G>C)
c.1255G>C
c.745G>C (p.Ala249Pro)
c.1354G>C (p.Ala452Pro)
c.1378G>C (p.Ala460Pro)
c.2041G>C (n.2041G>C)
c.*1559G>C (n.*1559G>C)
c.*578G>C (n.*578G>C)
c.1312G>C (p.Ala438Pro)
c.1288G>C (p.Ala430Pro)
n.652G>C
n.6325G>C
c.816G>C
c.1291G>C (p.Ala431Pro)
c.1447G>C (p.Ala483Pro)
c.1498G>C (p.Ala500Pro)
c.*956G>C (n.*956G>C)
c.1475G>C (n.1475G>C)
c.1369G>C (p.Ala457Pro)
c.*212G>C (n.*212G>C)
c.1375G>C (p.Ala459Pro)
c.1351G>C (p.Ala451Pro)
c.1417G>C (p.Ala473Pro)
c.934G>C (p.Ala312Pro)
c.958G>C (p.Ala320Pro)
5g.162153318G>TCA362184049GABRG2c.1379G>T
c.1474G>T (p.Ala492Ser)
c.1437G>T
n.632G>T
c.1069G>T (p.Ala357Ser)
c.1093G>T (p.Ala365Ser)
c.*3975G>T (n.*3975G>T)
c.1255G>T
c.745G>T (p.Ala249Ser)
c.1354G>T (p.Ala452Ser)
c.1378G>T (p.Ala460Ser)
c.2041G>T (n.2041G>T)
c.*1559G>T (n.*1559G>T)
c.*578G>T (n.*578G>T)
c.1312G>T (p.Ala438Ser)
c.1288G>T (p.Ala430Ser)
n.652G>T
n.6325G>T
c.816G>T
c.1291G>T (p.Ala431Ser)
c.1447G>T (p.Ala483Ser)
c.1498G>T (p.Ala500Ser)
c.*956G>T (n.*956G>T)
c.1475G>T (n.1475G>T)
c.1369G>T (p.Ala457Ser)
c.*212G>T (n.*212G>T)
c.1375G>T (p.Ala459Ser)
c.1351G>T (p.Ala451Ser)
c.1417G>T (p.Ala473Ser)
c.934G>T (p.Ala312Ser)
c.958G>T (p.Ala320Ser)
5g.162153319C>ACA362184056GABRG2c.1380C>A
c.1475C>A (p.Ala492Asp)
c.1438C>A
n.633C>A
c.1070C>A (p.Ala357Asp)
c.1094C>A (p.Ala365Asp)
c.*3976C>A (n.*3976C>A)
c.1256C>A
c.746C>A (p.Ala249Asp)
c.1355C>A (p.Ala452Asp)
c.1379C>A (p.Ala460Asp)
c.2042C>A (n.2042C>A)
c.*1560C>A (n.*1560C>A)
c.*579C>A (n.*579C>A)
c.1313C>A (p.Ala438Asp)
c.1289C>A (p.Ala430Asp)
n.653C>A
n.6326C>A
c.817C>A
c.1292C>A (p.Ala431Asp)
c.1448C>A (p.Ala483Asp)
c.1499C>A (p.Ala500Asp)
c.*957C>A (n.*957C>A)
c.1476C>A (n.1476C>A)
c.1370C>A (p.Ala457Asp)
c.*213C>A (n.*213C>A)
c.1376C>A (p.Ala459Asp)
c.1352C>A (p.Ala451Asp)
c.1418C>A (p.Ala473Asp)
c.935C>A (p.Ala312Asp)
c.959C>A (p.Ala320Asp)
5g.162153319C>GCA362184051GABRG2c.1380C>G
c.1475C>G (p.Ala492Gly)
c.1438C>G
n.633C>G
c.1070C>G (p.Ala357Gly)
c.1094C>G (p.Ala365Gly)
c.*3976C>G (n.*3976C>G)
c.1256C>G
c.746C>G (p.Ala249Gly)
c.1355C>G (p.Ala452Gly)
c.1379C>G (p.Ala460Gly)
c.2042C>G (n.2042C>G)
c.*1560C>G (n.*1560C>G)
c.*579C>G (n.*579C>G)
c.1313C>G (p.Ala438Gly)
c.1289C>G (p.Ala430Gly)
n.653C>G
n.6326C>G
c.817C>G
c.1292C>G (p.Ala431Gly)
c.1448C>G (p.Ala483Gly)
c.1499C>G (p.Ala500Gly)
c.*957C>G (n.*957C>G)
c.1476C>G (n.1476C>G)
c.1370C>G (p.Ala457Gly)
c.*213C>G (n.*213C>G)
c.1376C>G (p.Ala459Gly)
c.1352C>G (p.Ala451Gly)
c.1418C>G (p.Ala473Gly)
c.935C>G (p.Ala312Gly)
c.959C>G (p.Ala320Gly)
5g.162153319C>TCA362184054GABRG2c.1380C>T
c.1475C>T (p.Ala492Val)
c.1438C>T
n.633C>T
c.1070C>T (p.Ala357Val)
c.1094C>T (p.Ala365Val)
c.*3976C>T (n.*3976C>T)
c.1256C>T
c.746C>T (p.Ala249Val)
c.1355C>T (p.Ala452Val)
c.1379C>T (p.Ala460Val)
c.2042C>T (n.2042C>T)
c.*1560C>T (n.*1560C>T)
c.*579C>T (n.*579C>T)
c.1313C>T (p.Ala438Val)
c.1289C>T (p.Ala430Val)
n.653C>T
n.6326C>T
c.817C>T
c.1292C>T (p.Ala431Val)
c.1448C>T (p.Ala483Val)
c.1499C>T (p.Ala500Val)
c.*957C>T (n.*957C>T)
c.1476C>T (n.1476C>T)
c.1370C>T (p.Ala457Val)
c.*213C>T (n.*213C>T)
c.1376C>T (p.Ala459Val)
c.1352C>T (p.Ala451Val)
c.1418C>T (p.Ala473Val)
c.935C>T (p.Ala312Val)
c.959C>T (p.Ala320Val)
5g.162153320C>ACA447691994GABRG2c.1381C>A
c.1476C>A (p.Ala492=)
c.1439C>A
n.634C>A
c.1071C>A (p.Ala357=)
c.1095C>A (p.Ala365=)
c.*3977C>A (n.*3977C>A)
c.1257C>A
c.747C>A (p.Ala249=)
c.1356C>A (p.Ala452=)
c.1380C>A (p.Ala460=)
c.2043C>A (n.2043C>A)
c.*1561C>A (n.*1561C>A)
c.*580C>A (n.*580C>A)
c.1314C>A (p.Ala438=)
c.1290C>A (p.Ala430=)
n.654C>A
n.6327C>A
c.818C>A
c.1293C>A (p.Ala431=)
c.1449C>A (p.Ala483=)
c.1500C>A (p.Ala500=)
c.*958C>A (n.*958C>A)
c.1477C>A (n.1477C>A)
c.1371C>A (p.Ala457=)
c.*214C>A (n.*214C>A)
c.1377C>A (p.Ala459=)
c.1353C>A (p.Ala451=)
c.1419C>A (p.Ala473=)
c.936C>A (p.Ala312=)
c.960C>A (p.Ala320=)
5g.162153320C=CA1596382236GABRG2c.1381C=
c.1476C= (p.Ala492=)
c.1439C=
n.634C=
c.1071C= (p.Ala357=)
c.1095C= (p.Ala365=)
c.*3977C= (n.*3977C=)
c.1257C=
c.747C= (p.Ala249=)
c.1356C= (p.Ala452=)
c.1380C= (p.Ala460=)
c.2043C= (n.2043C=)
c.*1561C= (n.*1561C=)
c.*580C= (n.*580C=)
c.1314C= (p.Ala438=)
c.1290C= (p.Ala430=)
n.654C=
n.6327C=
c.818C=
c.1293C= (p.Ala431=)
c.1449C= (p.Ala483=)
c.1500C= (p.Ala500=)
c.*958C= (n.*958C=)
c.1477C= (n.1477C=)
c.1371C= (p.Ala457=)
c.*214C= (n.*214C=)
c.1377C= (p.Ala459=)
c.1353C= (p.Ala451=)
c.1419C= (p.Ala473=)
c.936C= (p.Ala312=)
c.960C= (p.Ala320=)
5g.162153320C>GCA447691996GABRG2c.1381C>G
c.1476C>G (p.Ala492=)
c.1439C>G
n.634C>G
c.1071C>G (p.Ala357=)
c.1095C>G (p.Ala365=)
c.*3977C>G (n.*3977C>G)
c.1257C>G
c.747C>G (p.Ala249=)
c.1356C>G (p.Ala452=)
c.1380C>G (p.Ala460=)
c.2043C>G (n.2043C>G)
c.*1561C>G (n.*1561C>G)
c.*580C>G (n.*580C>G)
c.1314C>G (p.Ala438=)
c.1290C>G (p.Ala430=)
n.654C>G
n.6327C>G
c.818C>G
c.1293C>G (p.Ala431=)
c.1449C>G (p.Ala483=)
c.1500C>G (p.Ala500=)
c.*958C>G (n.*958C>G)
c.1477C>G (n.1477C>G)
c.1371C>G (p.Ala457=)
c.*214C>G (n.*214C>G)
c.1377C>G (p.Ala459=)
c.1353C>G (p.Ala451=)
c.1419C>G (p.Ala473=)
c.936C>G (p.Ala312=)
c.960C>G (p.Ala320=)
5g.162153320C>TCA447691995GABRG2c.1381C>T
c.1476C>T (p.Ala492=)
c.1439C>T
n.634C>T
c.1071C>T (p.Ala357=)
c.1095C>T (p.Ala365=)
c.*3977C>T (n.*3977C>T)
c.1257C>T
c.747C>T (p.Ala249=)
c.1356C>T (p.Ala452=)
c.1380C>T (p.Ala460=)
c.2043C>T (n.2043C>T)
c.*1561C>T (n.*1561C>T)
c.*580C>T (n.*580C>T)
c.1314C>T (p.Ala438=)
c.1290C>T (p.Ala430=)
n.654C>T
n.6327C>T
c.818C>T
c.1293C>T (p.Ala431=)
c.1449C>T (p.Ala483=)
c.1500C>T (p.Ala500=)
c.*958C>T (n.*958C>T)
c.1477C>T (n.1477C>T)
c.1371C>T (p.Ala457=)
c.*214C>T (n.*214C>T)
c.1377C>T (p.Ala459=)
c.1353C>T (p.Ala451=)
c.1419C>T (p.Ala473=)
c.936C>T (p.Ala312=)
c.960C>T (p.Ala320=)
 dbSNP COSMIC
5g.162153321T>ACA362184058GABRG2c.1382T>A
c.1477T>A (p.Phe493Ile)
c.1440T>A
n.635T>A
c.1072T>A (p.Phe358Ile)
c.1096T>A (p.Phe366Ile)
c.*3978T>A (n.*3978T>A)
c.1258T>A
c.748T>A (p.Phe250Ile)
c.1357T>A (p.Phe453Ile)
c.1381T>A (p.Phe461Ile)
c.2044T>A (n.2044T>A)
c.*1562T>A (n.*1562T>A)
c.*581T>A (n.*581T>A)
c.1315T>A (p.Phe439Ile)
c.1291T>A (p.Phe431Ile)
n.655T>A
n.6328T>A
c.819T>A
c.1294T>A (p.Phe432Ile)
c.1450T>A (p.Phe484Ile)
c.1501T>A (p.Phe501Ile)
c.*959T>A (n.*959T>A)
c.1478T>A (n.1478T>A)
c.1372T>A (p.Phe458Ile)
c.*215T>A (n.*215T>A)
c.1378T>A (p.Phe460Ile)
c.1354T>A (p.Phe452Ile)
c.1420T>A (p.Phe474Ile)
c.937T>A (p.Phe313Ile)
c.961T>A (p.Phe321Ile)
5g.162153321T>CCA362184060GABRG2c.1382T>C
c.1477T>C (p.Phe493Leu)
c.1440T>C
n.635T>C
c.1072T>C (p.Phe358Leu)
c.1096T>C (p.Phe366Leu)
c.*3978T>C (n.*3978T>C)
c.1258T>C
c.748T>C (p.Phe250Leu)
c.1357T>C (p.Phe453Leu)
c.1381T>C (p.Phe461Leu)
c.2044T>C (n.2044T>C)
c.*1562T>C (n.*1562T>C)
c.*581T>C (n.*581T>C)
c.1315T>C (p.Phe439Leu)
c.1291T>C (p.Phe431Leu)
n.655T>C
n.6328T>C
c.819T>C
c.1294T>C (p.Phe432Leu)
c.1450T>C (p.Phe484Leu)
c.1501T>C (p.Phe501Leu)
c.*959T>C (n.*959T>C)
c.1478T>C (n.1478T>C)
c.1372T>C (p.Phe458Leu)
c.*215T>C (n.*215T>C)
c.1378T>C (p.Phe460Leu)
c.1354T>C (p.Phe452Leu)
c.1420T>C (p.Phe474Leu)
c.937T>C (p.Phe313Leu)
c.961T>C (p.Phe321Leu)
 gnomAD v4
5g.162153321T>GCA362184062GABRG2c.1382T>G
c.1477T>G (p.Phe493Val)
c.1440T>G
n.635T>G
c.1072T>G (p.Phe358Val)
c.1096T>G (p.Phe366Val)
c.*3978T>G (n.*3978T>G)
c.1258T>G
c.748T>G (p.Phe250Val)
c.1357T>G (p.Phe453Val)
c.1381T>G (p.Phe461Val)
c.2044T>G (n.2044T>G)
c.*1562T>G (n.*1562T>G)
c.*581T>G (n.*581T>G)
c.1315T>G (p.Phe439Val)
c.1291T>G (p.Phe431Val)
n.655T>G
n.6328T>G
c.819T>G
c.1294T>G (p.Phe432Val)
c.1450T>G (p.Phe484Val)
c.1501T>G (p.Phe501Val)
c.*959T>G (n.*959T>G)
c.1478T>G (n.1478T>G)
c.1372T>G (p.Phe458Val)
c.*215T>G (n.*215T>G)
c.1378T>G (p.Phe460Val)
c.1354T>G (p.Phe452Val)
c.1420T>G (p.Phe474Val)
c.937T>G (p.Phe313Val)
c.961T>G (p.Phe321Val)
5g.162153322T>ACA362184065GABRG2c.1383T>A
c.1478T>A (p.Phe493Tyr)
c.1441T>A
n.636T>A
c.1073T>A (p.Phe358Tyr)
c.1097T>A (p.Phe366Tyr)
c.*3979T>A (n.*3979T>A)
c.1259T>A
c.749T>A (p.Phe250Tyr)
c.1358T>A (p.Phe453Tyr)
c.1382T>A (p.Phe461Tyr)
c.2045T>A (n.2045T>A)
c.*1563T>A (n.*1563T>A)
c.*582T>A (n.*582T>A)
c.1316T>A (p.Phe439Tyr)
c.1292T>A (p.Phe431Tyr)
n.656T>A
n.6329T>A
c.820T>A
c.1295T>A (p.Phe432Tyr)
c.1451T>A (p.Phe484Tyr)
c.1502T>A (p.Phe501Tyr)
c.*960T>A (n.*960T>A)
c.1479T>A (n.1479T>A)
c.1373T>A (p.Phe458Tyr)
c.*216T>A (n.*216T>A)
c.1379T>A (p.Phe460Tyr)
c.1355T>A (p.Phe452Tyr)
c.1421T>A (p.Phe474Tyr)
c.938T>A (p.Phe313Tyr)
c.962T>A (p.Phe321Tyr)
5g.162153322T>CCA362184067GABRG2c.1383T>C
c.1478T>C (p.Phe493Ser)
c.1441T>C
n.636T>C
c.1073T>C (p.Phe358Ser)
c.1097T>C (p.Phe366Ser)
c.*3979T>C (n.*3979T>C)
c.1259T>C
c.749T>C (p.Phe250Ser)
c.1358T>C (p.Phe453Ser)
c.1382T>C (p.Phe461Ser)
c.2045T>C (n.2045T>C)
c.*1563T>C (n.*1563T>C)
c.*582T>C (n.*582T>C)
c.1316T>C (p.Phe439Ser)
c.1292T>C (p.Phe431Ser)
n.656T>C
n.6329T>C
c.820T>C
c.1295T>C (p.Phe432Ser)
c.1451T>C (p.Phe484Ser)
c.1502T>C (p.Phe501Ser)
c.*960T>C (n.*960T>C)
c.1479T>C (n.1479T>C)
c.1373T>C (p.Phe458Ser)
c.*216T>C (n.*216T>C)
c.1379T>C (p.Phe460Ser)
c.1355T>C (p.Phe452Ser)
c.1421T>C (p.Phe474Ser)
c.938T>C (p.Phe313Ser)
c.962T>C (p.Phe321Ser)
5g.162153322T>GCA362184069GABRG2c.1383T>G
c.1478T>G (p.Phe493Cys)
c.1441T>G
n.636T>G
c.1073T>G (p.Phe358Cys)
c.1097T>G (p.Phe366Cys)
c.*3979T>G (n.*3979T>G)
c.1259T>G
c.749T>G (p.Phe250Cys)
c.1358T>G (p.Phe453Cys)
c.1382T>G (p.Phe461Cys)
c.2045T>G (n.2045T>G)
c.*1563T>G (n.*1563T>G)
c.*582T>G (n.*582T>G)
c.1316T>G (p.Phe439Cys)
c.1292T>G (p.Phe431Cys)
n.656T>G
n.6329T>G
c.820T>G
c.1295T>G (p.Phe432Cys)
c.1451T>G (p.Phe484Cys)
c.1502T>G (p.Phe501Cys)
c.*960T>G (n.*960T>G)
c.1479T>G (n.1479T>G)
c.1373T>G (p.Phe458Cys)
c.*216T>G (n.*216T>G)
c.1379T>G (p.Phe460Cys)
c.1355T>G (p.Phe452Cys)
c.1421T>G (p.Phe474Cys)
c.938T>G (p.Phe313Cys)
c.962T>G (p.Phe321Cys)
5g.162153323C>ACA362184071GABRG2c.1384C>A
c.1479C>A (p.Phe493Leu)
c.1442C>A
n.637C>A
c.1074C>A (p.Phe358Leu)
c.1098C>A (p.Phe366Leu)
c.*3980C>A (n.*3980C>A)
c.1260C>A
c.750C>A (p.Phe250Leu)
c.1359C>A (p.Phe453Leu)
c.1383C>A (p.Phe461Leu)
c.2046C>A (n.2046C>A)
c.*1564C>A (n.*1564C>A)
c.*583C>A (n.*583C>A)
c.1317C>A (p.Phe439Leu)
c.1293C>A (p.Phe431Leu)
n.657C>A
n.6330C>A
c.821C>A
c.1296C>A (p.Phe432Leu)
c.1452C>A (p.Phe484Leu)
c.1503C>A (p.Phe501Leu)
c.*961C>A (n.*961C>A)
c.1480C>A (n.1480C>A)
c.1374C>A (p.Phe458Leu)
c.*217C>A (n.*217C>A)
c.1380C>A (p.Phe460Leu)
c.1356C>A (p.Phe452Leu)
c.1422C>A (p.Phe474Leu)
c.939C>A (p.Phe313Leu)
c.963C>A (p.Phe321Leu)
5g.162153323C=CA1596382241GABRG2c.1384C=
c.1479C= (p.Phe493=)
c.1442C=
n.637C=
c.1074C= (p.Phe358=)
c.1098C= (p.Phe366=)
c.*3980C= (n.*3980C=)
c.1260C=
c.750C= (p.Phe250=)
c.1359C= (p.Phe453=)
c.1383C= (p.Phe461=)
c.2046C= (n.2046C=)
c.*1564C= (n.*1564C=)
c.*583C= (n.*583C=)
c.1317C= (p.Phe439=)
c.1293C= (p.Phe431=)
n.657C=
n.6330C=
c.821C=
c.1296C= (p.Phe432=)
c.1452C= (p.Phe484=)
c.1503C= (p.Phe501=)
c.*961C= (n.*961C=)
c.1480C= (n.1480C=)
c.1374C= (p.Phe458=)
c.*217C= (n.*217C=)
c.1380C= (p.Phe460=)
c.1356C= (p.Phe452=)
c.1422C= (p.Phe474=)
c.939C= (p.Phe313=)
c.963C= (p.Phe321=)
5g.162153323C>GCA362184072GABRG2c.1384C>G
c.1479C>G (p.Phe493Leu)
c.1442C>G
n.637C>G
c.1074C>G (p.Phe358Leu)
c.1098C>G (p.Phe366Leu)
c.*3980C>G (n.*3980C>G)
c.1260C>G
c.750C>G (p.Phe250Leu)
c.1359C>G (p.Phe453Leu)
c.1383C>G (p.Phe461Leu)
c.2046C>G (n.2046C>G)
c.*1564C>G (n.*1564C>G)
c.*583C>G (n.*583C>G)
c.1317C>G (p.Phe439Leu)
c.1293C>G (p.Phe431Leu)
n.657C>G
n.6330C>G
c.821C>G
c.1296C>G (p.Phe432Leu)
c.1452C>G (p.Phe484Leu)
c.1503C>G (p.Phe501Leu)
c.*961C>G (n.*961C>G)
c.1480C>G (n.1480C>G)
c.1374C>G (p.Phe458Leu)
c.*217C>G (n.*217C>G)
c.1380C>G (p.Phe460Leu)
c.1356C>G (p.Phe452Leu)
c.1422C>G (p.Phe474Leu)
c.939C>G (p.Phe313Leu)
c.963C>G (p.Phe321Leu)
 ClinVar dbSNP
5g.162153323C>TCA447691999GABRG2c.1384C>T
c.1479C>T (p.Phe493=)
c.1442C>T
n.637C>T
c.1074C>T (p.Phe358=)
c.1098C>T (p.Phe366=)
c.*3980C>T (n.*3980C>T)
c.1260C>T
c.750C>T (p.Phe250=)
c.1359C>T (p.Phe453=)
c.1383C>T (p.Phe461=)
c.2046C>T (n.2046C>T)
c.*1564C>T (n.*1564C>T)
c.*583C>T (n.*583C>T)
c.1317C>T (p.Phe439=)
c.1293C>T (p.Phe431=)
n.657C>T
n.6330C>T
c.821C>T
c.1296C>T (p.Phe432=)
c.1452C>T (p.Phe484=)
c.1503C>T (p.Phe501=)
c.*961C>T (n.*961C>T)
c.1480C>T (n.1480C>T)
c.1374C>T (p.Phe458=)
c.*217C>T (n.*217C>T)
c.1380C>T (p.Phe460=)
c.1356C>T (p.Phe452=)
c.1422C>T (p.Phe474=)
c.939C>T (p.Phe313=)
c.963C>T (p.Phe321=)
5g.162153324T>ACA362184075GABRG2c.1385T>A
c.1480T>A (p.Cys494Ser)
c.1443T>A
n.638T>A
c.1075T>A (p.Cys359Ser)
c.1099T>A (p.Cys367Ser)
c.*3981T>A (n.*3981T>A)
c.1261T>A
c.751T>A (p.Cys251Ser)
c.1360T>A (p.Cys454Ser)
c.1384T>A (p.Cys462Ser)
c.2047T>A (n.2047T>A)
c.*1565T>A (n.*1565T>A)
c.*584T>A (n.*584T>A)
c.1318T>A (p.Cys440Ser)
c.1294T>A (p.Cys432Ser)
n.658T>A
n.6331T>A
c.822T>A
c.1297T>A (p.Cys433Ser)
c.1453T>A (p.Cys485Ser)
c.1504T>A (p.Cys502Ser)
c.*962T>A (n.*962T>A)
c.1481T>A (n.1481T>A)
c.1375T>A (p.Cys459Ser)
c.*218T>A (n.*218T>A)
c.1381T>A (p.Cys461Ser)
c.1357T>A (p.Cys453Ser)
c.1423T>A (p.Cys475Ser)
c.940T>A (p.Cys314Ser)
c.964T>A (p.Cys322Ser)
5g.162153324T>CCA362184076GABRG2c.1385T>C
c.1480T>C (p.Cys494Arg)
c.1443T>C
n.638T>C
c.1075T>C (p.Cys359Arg)
c.1099T>C (p.Cys367Arg)
c.*3981T>C (n.*3981T>C)
c.1261T>C
c.751T>C (p.Cys251Arg)
c.1360T>C (p.Cys454Arg)
c.1384T>C (p.Cys462Arg)
c.2047T>C (n.2047T>C)
c.*1565T>C (n.*1565T>C)
c.*584T>C (n.*584T>C)
c.1318T>C (p.Cys440Arg)
c.1294T>C (p.Cys432Arg)
n.658T>C
n.6331T>C
c.822T>C
c.1297T>C (p.Cys433Arg)
c.1453T>C (p.Cys485Arg)
c.1504T>C (p.Cys502Arg)
c.*962T>C (n.*962T>C)
c.1481T>C (n.1481T>C)
c.1375T>C (p.Cys459Arg)
c.*218T>C (n.*218T>C)
c.1381T>C (p.Cys461Arg)
c.1357T>C (p.Cys453Arg)
c.1423T>C (p.Cys475Arg)
c.940T>C (p.Cys314Arg)
c.964T>C (p.Cys322Arg)
5g.162153324T>GCA362184078GABRG2c.1385T>G
c.1480T>G (p.Cys494Gly)
c.1443T>G
n.638T>G
c.1075T>G (p.Cys359Gly)
c.1099T>G (p.Cys367Gly)
c.*3981T>G (n.*3981T>G)
c.1261T>G
c.751T>G (p.Cys251Gly)
c.1360T>G (p.Cys454Gly)
c.1384T>G (p.Cys462Gly)
c.2047T>G (n.2047T>G)
c.*1565T>G (n.*1565T>G)
c.*584T>G (n.*584T>G)
c.1318T>G (p.Cys440Gly)
c.1294T>G (p.Cys432Gly)
n.658T>G
n.6331T>G
c.822T>G
c.1297T>G (p.Cys433Gly)
c.1453T>G (p.Cys485Gly)
c.1504T>G (p.Cys502Gly)
c.*962T>G (n.*962T>G)
c.1481T>G (n.1481T>G)
c.1375T>G (p.Cys459Gly)
c.*218T>G (n.*218T>G)
c.1381T>G (p.Cys461Gly)
c.1357T>G (p.Cys453Gly)
c.1423T>G (p.Cys475Gly)
c.940T>G (p.Cys314Gly)
c.964T>G (p.Cys322Gly)
 gnomAD v4 COSMIC
5g.162153325G>ACA362184084GABRG2c.1386G>A
c.1481G>A (p.Cys494Tyr)
c.1444G>A
n.639G>A
c.1076G>A (p.Cys359Tyr)
c.1100G>A (p.Cys367Tyr)
c.*3982G>A (n.*3982G>A)
c.1262G>A
c.752G>A (p.Cys251Tyr)
c.1361G>A (p.Cys454Tyr)
c.1385G>A (p.Cys462Tyr)
c.2048G>A (n.2048G>A)
c.*1566G>A (n.*1566G>A)
c.*585G>A (n.*585G>A)
c.1319G>A (p.Cys440Tyr)
c.1295G>A (p.Cys432Tyr)
n.659G>A
n.6332G>A
c.823G>A
c.1298G>A (p.Cys433Tyr)
c.1454G>A (p.Cys485Tyr)
c.1505G>A (p.Cys502Tyr)
c.*963G>A (n.*963G>A)
c.1482G>A (n.1482G>A)
c.1376G>A (p.Cys459Tyr)
c.*219G>A (n.*219G>A)
c.1382G>A (p.Cys461Tyr)
c.1358G>A (p.Cys453Tyr)
c.1424G>A (p.Cys475Tyr)
c.941G>A (p.Cys314Tyr)
c.965G>A (p.Cys322Tyr)
5g.162153325G>CCA362184082GABRG2c.1386G>C
c.1481G>C (p.Cys494Ser)
c.1444G>C
n.639G>C
c.1076G>C (p.Cys359Ser)
c.1100G>C (p.Cys367Ser)
c.*3982G>C (n.*3982G>C)
c.1262G>C
c.752G>C (p.Cys251Ser)
c.1361G>C (p.Cys454Ser)
c.1385G>C (p.Cys462Ser)
c.2048G>C (n.2048G>C)
c.*1566G>C (n.*1566G>C)
c.*585G>C (n.*585G>C)
c.1319G>C (p.Cys440Ser)
c.1295G>C (p.Cys432Ser)
n.659G>C
n.6332G>C
c.823G>C
c.1298G>C (p.Cys433Ser)
c.1454G>C (p.Cys485Ser)
c.1505G>C (p.Cys502Ser)
c.*963G>C (n.*963G>C)
c.1482G>C (n.1482G>C)
c.1376G>C (p.Cys459Ser)
c.*219G>C (n.*219G>C)
c.1382G>C (p.Cys461Ser)
c.1358G>C (p.Cys453Ser)
c.1424G>C (p.Cys475Ser)
c.941G>C (p.Cys314Ser)
c.965G>C (p.Cys322Ser)
 gnomAD v4
5g.162153325G>TCA362184080GABRG2c.1386G>T
c.1481G>T (p.Cys494Phe)
c.1444G>T
n.639G>T
c.1076G>T (p.Cys359Phe)
c.1100G>T (p.Cys367Phe)
c.*3982G>T (n.*3982G>T)
c.1262G>T
c.752G>T (p.Cys251Phe)
c.1361G>T (p.Cys454Phe)
c.1385G>T (p.Cys462Phe)
c.2048G>T (n.2048G>T)
c.*1566G>T (n.*1566G>T)
c.*585G>T (n.*585G>T)
c.1319G>T (p.Cys440Phe)
c.1295G>T (p.Cys432Phe)
n.659G>T
n.6332G>T
c.823G>T
c.1298G>T (p.Cys433Phe)
c.1454G>T (p.Cys485Phe)
c.1505G>T (p.Cys502Phe)
c.*963G>T (n.*963G>T)
c.1482G>T (n.1482G>T)
c.1376G>T (p.Cys459Phe)
c.*219G>T (n.*219G>T)
c.1382G>T (p.Cys461Phe)
c.1358G>T (p.Cys453Phe)
c.1424G>T (p.Cys475Phe)
c.941G>T (p.Cys314Phe)
c.965G>T (p.Cys322Phe)
5g.162153326C>ACA362184088GABRG2c.1387C>A
c.1482C>A (p.Cys494Ter)
c.1445C>A
n.640C>A
c.1077C>A (p.Cys359Ter)
c.1101C>A (p.Cys367Ter)
c.*3983C>A (n.*3983C>A)
c.1263C>A
c.753C>A (p.Cys251Ter)
c.1362C>A (p.Cys454Ter)
c.1386C>A (p.Cys462Ter)
c.2049C>A (n.2049C>A)
c.*1567C>A (n.*1567C>A)
c.*586C>A (n.*586C>A)
c.1320C>A (p.Cys440Ter)
c.1296C>A (p.Cys432Ter)
n.660C>A
n.6333C>A
c.824C>A
c.1299C>A (p.Cys433Ter)
c.1455C>A (p.Cys485Ter)
c.1506C>A (p.Cys502Ter)
c.*964C>A (n.*964C>A)
c.1483C>A (n.1483C>A)
c.1377C>A (p.Cys459Ter)
c.*220C>A (n.*220C>A)
c.1383C>A (p.Cys461Ter)
c.1359C>A (p.Cys453Ter)
c.1425C>A (p.Cys475Ter)
c.942C>A (p.Cys314Ter)
c.966C>A (p.Cys322Ter)
5g.162153326C>GCA362184086GABRG2c.1387C>G
c.1482C>G (p.Cys494Trp)
c.1445C>G
n.640C>G
c.1077C>G (p.Cys359Trp)
c.1101C>G (p.Cys367Trp)
c.*3983C>G (n.*3983C>G)
c.1263C>G
c.753C>G (p.Cys251Trp)
c.1362C>G (p.Cys454Trp)
c.1386C>G (p.Cys462Trp)
c.2049C>G (n.2049C>G)
c.*1567C>G (n.*1567C>G)
c.*586C>G (n.*586C>G)
c.1320C>G (p.Cys440Trp)
c.1296C>G (p.Cys432Trp)
n.660C>G
n.6333C>G
c.824C>G
c.1299C>G (p.Cys433Trp)
c.1455C>G (p.Cys485Trp)
c.1506C>G (p.Cys502Trp)
c.*964C>G (n.*964C>G)
c.1483C>G (n.1483C>G)
c.1377C>G (p.Cys459Trp)
c.*220C>G (n.*220C>G)
c.1383C>G (p.Cys461Trp)
c.1359C>G (p.Cys453Trp)
c.1425C>G (p.Cys475Trp)
c.942C>G (p.Cys314Trp)
c.966C>G (p.Cys322Trp)
5g.162153326C>TCA447692003GABRG2c.1387C>T
c.1482C>T (p.Cys494=)
c.1445C>T
n.640C>T
c.1077C>T (p.Cys359=)
c.1101C>T (p.Cys367=)
c.*3983C>T (n.*3983C>T)
c.1263C>T
c.753C>T (p.Cys251=)
c.1362C>T (p.Cys454=)
c.1386C>T (p.Cys462=)
c.2049C>T (n.2049C>T)
c.*1567C>T (n.*1567C>T)
c.*586C>T (n.*586C>T)
c.1320C>T (p.Cys440=)
c.1296C>T (p.Cys432=)
n.660C>T
n.6333C>T
c.824C>T
c.1299C>T (p.Cys433=)
c.1455C>T (p.Cys485=)
c.1506C>T (p.Cys502=)
c.*964C>T (n.*964C>T)
c.1483C>T (n.1483C>T)
c.1377C>T (p.Cys459=)
c.*220C>T (n.*220C>T)
c.1383C>T (p.Cys461=)
c.1359C>T (p.Cys453=)
c.1425C>T (p.Cys475=)
c.942C>T (p.Cys314=)
c.966C>T (p.Cys322=)
 gnomAD v4
5g.162153327C>ACA362184092GABRG2c.1388C>A
c.1483C>A (p.Leu495Met)
c.1446C>A
n.641C>A
c.1078C>A (p.Leu360Met)
c.1102C>A (p.Leu368Met)
c.*3984C>A (n.*3984C>A)
c.1264C>A
c.754C>A (p.Leu252Met)
c.1363C>A (p.Leu455Met)
c.1387C>A (p.Leu463Met)
c.2050C>A (n.2050C>A)
c.*1568C>A (n.*1568C>A)
c.*587C>A (n.*587C>A)
c.1321C>A (p.Leu441Met)
c.1297C>A (p.Leu433Met)
n.661C>A
n.6334C>A
c.825C>A
c.1300C>A (p.Leu434Met)
c.1456C>A (p.Leu486Met)
c.1507C>A (p.Leu503Met)
c.*965C>A (n.*965C>A)
c.1484C>A (n.1484C>A)
c.1378C>A (p.Leu460Met)
c.*221C>A (n.*221C>A)
c.1384C>A (p.Leu462Met)
c.1360C>A (p.Leu454Met)
c.1426C>A (p.Leu476Met)
c.943C>A (p.Leu315Met)
c.967C>A (p.Leu323Met)
5g.162153327C>GCA362184090GABRG2c.1388C>G
c.1483C>G (p.Leu495Val)
c.1446C>G
n.641C>G
c.1078C>G (p.Leu360Val)
c.1102C>G (p.Leu368Val)
c.*3984C>G (n.*3984C>G)
c.1264C>G
c.754C>G (p.Leu252Val)
c.1363C>G (p.Leu455Val)
c.1387C>G (p.Leu463Val)
c.2050C>G (n.2050C>G)
c.*1568C>G (n.*1568C>G)
c.*587C>G (n.*587C>G)
c.1321C>G (p.Leu441Val)
c.1297C>G (p.Leu433Val)
n.661C>G
n.6334C>G
c.825C>G
c.1300C>G (p.Leu434Val)
c.1456C>G (p.Leu486Val)
c.1507C>G (p.Leu503Val)
c.*965C>G (n.*965C>G)
c.1484C>G (n.1484C>G)
c.1378C>G (p.Leu460Val)
c.*221C>G (n.*221C>G)
c.1384C>G (p.Leu462Val)
c.1360C>G (p.Leu454Val)
c.1426C>G (p.Leu476Val)
c.943C>G (p.Leu315Val)
c.967C>G (p.Leu323Val)
5g.162153327C>TCA447692004GABRG2c.1388C>T
c.1483C>T (p.Leu495=)
c.1446C>T
n.641C>T
c.1078C>T (p.Leu360=)
c.1102C>T (p.Leu368=)
c.*3984C>T (n.*3984C>T)
c.1264C>T
c.754C>T (p.Leu252=)
c.1363C>T (p.Leu455=)
c.1387C>T (p.Leu463=)
c.2050C>T (n.2050C>T)
c.*1568C>T (n.*1568C>T)
c.*587C>T (n.*587C>T)
c.1321C>T (p.Leu441=)
c.1297C>T (p.Leu433=)
n.661C>T
n.6334C>T
c.825C>T
c.1300C>T (p.Leu434=)
c.1456C>T (p.Leu486=)
c.1507C>T (p.Leu503=)
c.*965C>T (n.*965C>T)
c.1484C>T (n.1484C>T)
c.1378C>T (p.Leu460=)
c.*221C>T (n.*221C>T)
c.1384C>T (p.Leu462=)
c.1360C>T (p.Leu454=)
c.1426C>T (p.Leu476=)
c.943C>T (p.Leu315=)
c.967C>T (p.Leu323=)
5g.162153328T>ACA362184094GABRG2c.1389T>A
c.1484T>A (p.Leu495Gln)
c.1447T>A
n.642T>A
c.1079T>A (p.Leu360Gln)
c.1103T>A (p.Leu368Gln)
c.*3985T>A (n.*3985T>A)
c.1265T>A
c.755T>A (p.Leu252Gln)
c.1364T>A (p.Leu455Gln)
c.1388T>A (p.Leu463Gln)
c.2051T>A (n.2051T>A)
c.*1569T>A (n.*1569T>A)
c.*588T>A (n.*588T>A)
c.1322T>A (p.Leu441Gln)
c.1298T>A (p.Leu433Gln)
n.662T>A
n.6335T>A
c.826T>A
c.1301T>A (p.Leu434Gln)
c.1457T>A (p.Leu486Gln)
c.1508T>A (p.Leu503Gln)
c.*966T>A (n.*966T>A)
c.1485T>A (n.1485T>A)
c.1379T>A (p.Leu460Gln)
c.*222T>A (n.*222T>A)
c.1385T>A (p.Leu462Gln)
c.1361T>A (p.Leu454Gln)
c.1427T>A (p.Leu476Gln)
c.944T>A (p.Leu315Gln)
c.968T>A (p.Leu323Gln)
5g.162153328T>CCA362184096GABRG2c.1389T>C
c.1484T>C (p.Leu495Pro)
c.1447T>C
n.642T>C
c.1079T>C (p.Leu360Pro)
c.1103T>C (p.Leu368Pro)
c.*3985T>C (n.*3985T>C)
c.1265T>C
c.755T>C (p.Leu252Pro)
c.1364T>C (p.Leu455Pro)
c.1388T>C (p.Leu463Pro)
c.2051T>C (n.2051T>C)
c.*1569T>C (n.*1569T>C)
c.*588T>C (n.*588T>C)
c.1322T>C (p.Leu441Pro)
c.1298T>C (p.Leu433Pro)
n.662T>C
n.6335T>C
c.826T>C
c.1301T>C (p.Leu434Pro)
c.1457T>C (p.Leu486Pro)
c.1508T>C (p.Leu503Pro)
c.*966T>C (n.*966T>C)
c.1485T>C (n.1485T>C)
c.1379T>C (p.Leu460Pro)
c.*222T>C (n.*222T>C)
c.1385T>C (p.Leu462Pro)
c.1361T>C (p.Leu454Pro)
c.1427T>C (p.Leu476Pro)
c.944T>C (p.Leu315Pro)
c.968T>C (p.Leu323Pro)
5g.162153328T>GCA362184098GABRG2c.1389T>G
c.1484T>G (p.Leu495Arg)
c.1447T>G
n.642T>G
c.1079T>G (p.Leu360Arg)
c.1103T>G (p.Leu368Arg)
c.*3985T>G (n.*3985T>G)
c.1265T>G
c.755T>G (p.Leu252Arg)
c.1364T>G (p.Leu455Arg)
c.1388T>G (p.Leu463Arg)
c.2051T>G (n.2051T>G)
c.*1569T>G (n.*1569T>G)
c.*588T>G (n.*588T>G)
c.1322T>G (p.Leu441Arg)
c.1298T>G (p.Leu433Arg)
n.662T>G
n.6335T>G
c.826T>G
c.1301T>G (p.Leu434Arg)
c.1457T>G (p.Leu486Arg)
c.1508T>G (p.Leu503Arg)
c.*966T>G (n.*966T>G)
c.1485T>G (n.1485T>G)
c.1379T>G (p.Leu460Arg)
c.*222T>G (n.*222T>G)
c.1385T>G (p.Leu462Arg)
c.1361T>G (p.Leu454Arg)
c.1427T>G (p.Leu476Arg)
c.944T>G (p.Leu315Arg)
c.968T>G (p.Leu323Arg)
5g.162153329G>ACA3544996GABRG2c.1390G>A
c.1485G>A (p.Leu495=)
c.1448G>A
n.643G>A
c.1080G>A (p.Leu360=)
c.1104G>A (p.Leu368=)
c.*3986G>A (n.*3986G>A)
c.1266G>A
c.756G>A (p.Leu252=)
c.1365G>A (p.Leu455=)
c.1389G>A (p.Leu463=)
c.2052G>A (n.2052G>A)
c.*1570G>A (n.*1570G>A)
c.*589G>A (n.*589G>A)
c.1323G>A (p.Leu441=)
c.1299G>A (p.Leu433=)
n.663G>A
n.6336G>A
c.827G>A
c.1302G>A (p.Leu434=)
c.1458G>A (p.Leu486=)
c.1509G>A (p.Leu503=)
c.*967G>A (n.*967G>A)
c.1486G>A (n.1486G>A)
c.1380G>A (p.Leu460=)
c.*223G>A (n.*223G>A)
c.1386G>A (p.Leu462=)
c.1362G>A (p.Leu454=)
c.1428G>A (p.Leu476=)
c.945G>A (p.Leu315=)
c.969G>A (p.Leu323=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.162153329G>CCA447692007GABRG2c.1390G>C
c.1485G>C (p.Leu495=)
c.1448G>C
n.643G>C
c.1080G>C (p.Leu360=)
c.1104G>C (p.Leu368=)
c.*3986G>C (n.*3986G>C)
c.1266G>C
c.756G>C (p.Leu252=)
c.1365G>C (p.Leu455=)
c.1389G>C (p.Leu463=)
c.2052G>C (n.2052G>C)
c.*1570G>C (n.*1570G>C)
c.*589G>C (n.*589G>C)
c.1323G>C (p.Leu441=)
c.1299G>C (p.Leu433=)
n.663G>C
n.6336G>C
c.827G>C
c.1302G>C (p.Leu434=)
c.1458G>C (p.Leu486=)
c.1509G>C (p.Leu503=)
c.*967G>C (n.*967G>C)
c.1486G>C (n.1486G>C)
c.1380G>C (p.Leu460=)
c.*223G>C (n.*223G>C)
c.1386G>C (p.Leu462=)
c.1362G>C (p.Leu454=)
c.1428G>C (p.Leu476=)
c.945G>C (p.Leu315=)
c.969G>C (p.Leu323=)
5g.162153329G=CA1596382247GABRG2c.1390G=
c.1485G= (p.Leu495=)
c.1448G=
n.643G=
c.1080G= (p.Leu360=)
c.1104G= (p.Leu368=)
c.*3986G= (n.*3986G=)
c.1266G=
c.756G= (p.Leu252=)
c.1365G= (p.Leu455=)
c.1389G= (p.Leu463=)
c.2052G= (n.2052G=)
c.*1570G= (n.*1570G=)
c.*589G= (n.*589G=)
c.1323G= (p.Leu441=)
c.1299G= (p.Leu433=)
n.663G=
n.6336G=
c.827G=
c.1302G= (p.Leu434=)
c.1458G= (p.Leu486=)
c.1509G= (p.Leu503=)
c.*967G= (n.*967G=)
c.1486G= (n.1486G=)
c.1380G= (p.Leu460=)
c.*223G= (n.*223G=)
c.1386G= (p.Leu462=)
c.1362G= (p.Leu454=)
c.1428G= (p.Leu476=)
c.945G= (p.Leu315=)
c.969G= (p.Leu323=)
5g.162153329G>TCA447692008GABRG2c.1390G>T
c.1485G>T (p.Leu495=)
c.1448G>T
n.643G>T
c.1080G>T (p.Leu360=)
c.1104G>T (p.Leu368=)
c.*3986G>T (n.*3986G>T)
c.1266G>T
c.756G>T (p.Leu252=)
c.1365G>T (p.Leu455=)
c.1389G>T (p.Leu463=)
c.2052G>T (n.2052G>T)
c.*1570G>T (n.*1570G>T)
c.*589G>T (n.*589G>T)
c.1323G>T (p.Leu441=)
c.1299G>T (p.Leu433=)
n.663G>T
n.6336G>T
c.827G>T
c.1302G>T (p.Leu434=)
c.1458G>T (p.Leu486=)
c.1509G>T (p.Leu503=)
c.*967G>T (n.*967G>T)
c.1486G>T (n.1486G>T)
c.1380G>T (p.Leu460=)
c.*223G>T (n.*223G>T)
c.1386G>T (p.Leu462=)
c.1362G>T (p.Leu454=)
c.1428G>T (p.Leu476=)
c.945G>T (p.Leu315=)
c.969G>T (p.Leu323=)
 COSMIC
5g.162153330T>ACA362184100GABRG2c.1391T>A
c.1486T>A (p.Phe496Ile)
c.1449T>A
n.644T>A
c.1081T>A (p.Phe361Ile)
c.1105T>A (p.Phe369Ile)
c.*3987T>A (n.*3987T>A)
c.1267T>A
c.757T>A (p.Phe253Ile)
c.1366T>A (p.Phe456Ile)
c.1390T>A (p.Phe464Ile)
c.2053T>A (n.2053T>A)
c.*1571T>A (n.*1571T>A)
c.*590T>A (n.*590T>A)
c.1324T>A (p.Phe442Ile)
c.1300T>A (p.Phe434Ile)
n.664T>A
n.6337T>A
c.828T>A
c.1303T>A (p.Phe435Ile)
c.1459T>A (p.Phe487Ile)
c.1510T>A (p.Phe504Ile)
c.*968T>A (n.*968T>A)
c.1487T>A (n.1487T>A)
c.1381T>A (p.Phe461Ile)
c.*224T>A (n.*224T>A)
c.1387T>A (p.Phe463Ile)
c.1363T>A (p.Phe455Ile)
c.1429T>A (p.Phe477Ile)
c.946T>A (p.Phe316Ile)
c.970T>A (p.Phe324Ile)
5g.162153330T>CCA362184102GABRG2c.1391T>C
c.1486T>C (p.Phe496Leu)
c.1449T>C
n.644T>C
c.1081T>C (p.Phe361Leu)
c.1105T>C (p.Phe369Leu)
c.*3987T>C (n.*3987T>C)
c.1267T>C
c.757T>C (p.Phe253Leu)
c.1366T>C (p.Phe456Leu)
c.1390T>C (p.Phe464Leu)
c.2053T>C (n.2053T>C)
c.*1571T>C (n.*1571T>C)
c.*590T>C (n.*590T>C)
c.1324T>C (p.Phe442Leu)
c.1300T>C (p.Phe434Leu)
n.664T>C
n.6337T>C
c.828T>C
c.1303T>C (p.Phe435Leu)
c.1459T>C (p.Phe487Leu)
c.1510T>C (p.Phe504Leu)
c.*968T>C (n.*968T>C)
c.1487T>C (n.1487T>C)
c.1381T>C (p.Phe461Leu)
c.*224T>C (n.*224T>C)
c.1387T>C (p.Phe463Leu)
c.1363T>C (p.Phe455Leu)
c.1429T>C (p.Phe477Leu)
c.946T>C (p.Phe316Leu)
c.970T>C (p.Phe324Leu)
5g.162153330T>GCA362184104GABRG2c.1391T>G
c.1486T>G (p.Phe496Val)
c.1449T>G
n.644T>G
c.1081T>G (p.Phe361Val)
c.1105T>G (p.Phe369Val)
c.*3987T>G (n.*3987T>G)
c.1267T>G
c.757T>G (p.Phe253Val)
c.1366T>G (p.Phe456Val)
c.1390T>G (p.Phe464Val)
c.2053T>G (n.2053T>G)
c.*1571T>G (n.*1571T>G)
c.*590T>G (n.*590T>G)
c.1324T>G (p.Phe442Val)
c.1300T>G (p.Phe434Val)
n.664T>G
n.6337T>G
c.828T>G
c.1303T>G (p.Phe435Val)
c.1459T>G (p.Phe487Val)
c.1510T>G (p.Phe504Val)
c.*968T>G (n.*968T>G)
c.1487T>G (n.1487T>G)
c.1381T>G (p.Phe461Val)
c.*224T>G (n.*224T>G)
c.1387T>G (p.Phe463Val)
c.1363T>G (p.Phe455Val)
c.1429T>G (p.Phe477Val)
c.946T>G (p.Phe316Val)
c.970T>G (p.Phe324Val)
5g.162153331T>ACA362184106GABRG2c.1392T>A
c.1487T>A (p.Phe496Tyr)
c.1450T>A
n.645T>A
c.1082T>A (p.Phe361Tyr)
c.1106T>A (p.Phe369Tyr)
c.*3988T>A (n.*3988T>A)
c.1268T>A
c.758T>A (p.Phe253Tyr)
c.1367T>A (p.Phe456Tyr)
c.1391T>A (p.Phe464Tyr)
c.2054T>A (n.2054T>A)
c.*1572T>A (n.*1572T>A)
c.*591T>A (n.*591T>A)
c.1325T>A (p.Phe442Tyr)
c.1301T>A (p.Phe434Tyr)
n.665T>A
n.6338T>A
c.829T>A
c.1304T>A (p.Phe435Tyr)
c.1460T>A (p.Phe487Tyr)
c.1511T>A (p.Phe504Tyr)
c.*969T>A (n.*969T>A)
c.1488T>A (n.1488T>A)
c.1382T>A (p.Phe461Tyr)
c.*225T>A (n.*225T>A)
c.1388T>A (p.Phe463Tyr)
c.1364T>A (p.Phe455Tyr)
c.1430T>A (p.Phe477Tyr)
c.947T>A (p.Phe316Tyr)
c.971T>A (p.Phe324Tyr)
 COSMIC
5g.162153331T>CCA362184108GABRG2c.1392T>C
c.1487T>C (p.Phe496Ser)
c.1450T>C
n.645T>C
c.1082T>C (p.Phe361Ser)
c.1106T>C (p.Phe369Ser)
c.*3988T>C (n.*3988T>C)
c.1268T>C
c.758T>C (p.Phe253Ser)
c.1367T>C (p.Phe456Ser)
c.1391T>C (p.Phe464Ser)
c.2054T>C (n.2054T>C)
c.*1572T>C (n.*1572T>C)
c.*591T>C (n.*591T>C)
c.1325T>C (p.Phe442Ser)
c.1301T>C (p.Phe434Ser)
n.665T>C
n.6338T>C
c.829T>C
c.1304T>C (p.Phe435Ser)
c.1460T>C (p.Phe487Ser)
c.1511T>C (p.Phe504Ser)
c.*969T>C (n.*969T>C)
c.1488T>C (n.1488T>C)
c.1382T>C (p.Phe461Ser)
c.*225T>C (n.*225T>C)
c.1388T>C (p.Phe463Ser)
c.1364T>C (p.Phe455Ser)
c.1430T>C (p.Phe477Ser)
c.947T>C (p.Phe316Ser)
c.971T>C (p.Phe324Ser)
5g.162153331T>GCA362184109GABRG2c.1392T>G
c.1487T>G (p.Phe496Cys)
c.1450T>G
n.645T>G
c.1082T>G (p.Phe361Cys)
c.1106T>G (p.Phe369Cys)
c.*3988T>G (n.*3988T>G)
c.1268T>G
c.758T>G (p.Phe253Cys)
c.1367T>G (p.Phe456Cys)
c.1391T>G (p.Phe464Cys)
c.2054T>G (n.2054T>G)
c.*1572T>G (n.*1572T>G)
c.*591T>G (n.*591T>G)
c.1325T>G (p.Phe442Cys)
c.1301T>G (p.Phe434Cys)
n.665T>G
n.6338T>G
c.829T>G
c.1304T>G (p.Phe435Cys)
c.1460T>G (p.Phe487Cys)
c.1511T>G (p.Phe504Cys)
c.*969T>G (n.*969T>G)
c.1488T>G (n.1488T>G)
c.1382T>G (p.Phe461Cys)
c.*225T>G (n.*225T>G)
c.1388T>G (p.Phe463Cys)
c.1364T>G (p.Phe455Cys)
c.1430T>G (p.Phe477Cys)
c.947T>G (p.Phe316Cys)
c.971T>G (p.Phe324Cys)
5g.162153332T>ACA362184112GABRG2c.1393T>A
c.1488T>A (p.Phe496Leu)
c.1451T>A
n.646T>A
c.1083T>A (p.Phe361Leu)
c.1107T>A (p.Phe369Leu)
c.*3989T>A (n.*3989T>A)
c.1269T>A
c.759T>A (p.Phe253Leu)
c.1368T>A (p.Phe456Leu)
c.1392T>A (p.Phe464Leu)
c.2055T>A (n.2055T>A)
c.*1573T>A (n.*1573T>A)
c.*592T>A (n.*592T>A)
c.1326T>A (p.Phe442Leu)
c.1302T>A (p.Phe434Leu)
n.666T>A
n.6339T>A
c.830T>A
c.1305T>A (p.Phe435Leu)
c.1461T>A (p.Phe487Leu)
c.1512T>A (p.Phe504Leu)
c.*970T>A (n.*970T>A)
c.1489T>A (n.1489T>A)
c.1383T>A (p.Phe461Leu)
c.*226T>A (n.*226T>A)
c.1389T>A (p.Phe463Leu)
c.1365T>A (p.Phe455Leu)
c.1431T>A (p.Phe477Leu)
c.948T>A (p.Phe316Leu)
c.972T>A (p.Phe324Leu)
5g.162153332T>CCA447692011GABRG2c.1393T>C
c.1488T>C (p.Phe496=)
c.1451T>C
n.646T>C
c.1083T>C (p.Phe361=)
c.1107T>C (p.Phe369=)
c.*3989T>C (n.*3989T>C)
c.1269T>C
c.759T>C (p.Phe253=)
c.1368T>C (p.Phe456=)
c.1392T>C (p.Phe464=)
c.2055T>C (n.2055T>C)
c.*1573T>C (n.*1573T>C)
c.*592T>C (n.*592T>C)
c.1326T>C (p.Phe442=)
c.1302T>C (p.Phe434=)
n.666T>C
n.6339T>C
c.830T>C
c.1305T>C (p.Phe435=)
c.1461T>C (p.Phe487=)
c.1512T>C (p.Phe504=)
c.*970T>C (n.*970T>C)
c.1489T>C (n.1489T>C)
c.1383T>C (p.Phe461=)
c.*226T>C (n.*226T>C)
c.1389T>C (p.Phe463=)
c.1365T>C (p.Phe455=)
c.1431T>C (p.Phe477=)
c.948T>C (p.Phe316=)
c.972T>C (p.Phe324=)
 gnomAD v4
5g.162153332T>GCA362184114GABRG2c.1393T>G
c.1488T>G (p.Phe496Leu)
c.1451T>G
n.646T>G
c.1083T>G (p.Phe361Leu)
c.1107T>G (p.Phe369Leu)
c.*3989T>G (n.*3989T>G)
c.1269T>G
c.759T>G (p.Phe253Leu)
c.1368T>G (p.Phe456Leu)
c.1392T>G (p.Phe464Leu)
c.2055T>G (n.2055T>G)
c.*1573T>G (n.*1573T>G)
c.*592T>G (n.*592T>G)
c.1326T>G (p.Phe442Leu)
c.1302T>G (p.Phe434Leu)
n.666T>G
n.6339T>G
c.830T>G
c.1305T>G (p.Phe435Leu)
c.1461T>G (p.Phe487Leu)
c.1512T>G (p.Phe504Leu)
c.*970T>G (n.*970T>G)
c.1489T>G (n.1489T>G)
c.1383T>G (p.Phe461Leu)
c.*226T>G (n.*226T>G)
c.1389T>G (p.Phe463Leu)
c.1365T>G (p.Phe455Leu)
c.1431T>G (p.Phe477Leu)
c.948T>G (p.Phe316Leu)
c.972T>G (p.Phe324Leu)
5g.162153333A=CA1596382251GABRG2c.1394A=
c.1489A= (p.Asn497=)
c.1452A=
n.647A=
c.1084A= (p.Asn362=)
c.1108A= (p.Asn370=)
c.*3990A= (n.*3990A=)
c.1270A=
c.760A= (p.Asn254=)
c.1369A= (p.Asn457=)
c.1393A= (p.Asn465=)
c.2056A= (n.2056A=)
c.*1574A= (n.*1574A=)
c.*593A= (n.*593A=)
c.1327A= (p.Asn443=)
c.1303A= (p.Asn435=)
n.667A=
n.6340A=
c.831A=
c.1306A= (p.Asn436=)
c.1462A= (p.Asn488=)
c.1513A= (p.Asn505=)
c.*971A= (n.*971A=)
c.1490A= (n.1490A=)
c.1384A= (p.Asn462=)
c.*227A= (n.*227A=)
c.1390A= (p.Asn464=)
c.1366A= (p.Asn456=)
c.1432A= (p.Asn478=)
c.949A= (p.Asn317=)
c.973A= (p.Asn325=)
5g.162153333A>CCA362184115GABRG2c.1394A>C
c.1489A>C (p.Asn497His)
c.1452A>C
n.647A>C
c.1084A>C (p.Asn362His)
c.1108A>C (p.Asn370His)
c.*3990A>C (n.*3990A>C)
c.1270A>C
c.760A>C (p.Asn254His)
c.1369A>C (p.Asn457His)
c.1393A>C (p.Asn465His)
c.2056A>C (n.2056A>C)
c.*1574A>C (n.*1574A>C)
c.*593A>C (n.*593A>C)
c.1327A>C (p.Asn443His)
c.1303A>C (p.Asn435His)
n.667A>C
n.6340A>C
c.831A>C
c.1306A>C (p.Asn436His)
c.1462A>C (p.Asn488His)
c.1513A>C (p.Asn505His)
c.*971A>C (n.*971A>C)
c.1490A>C (n.1490A>C)
c.1384A>C (p.Asn462His)
c.*227A>C (n.*227A>C)
c.1390A>C (p.Asn464His)
c.1366A>C (p.Asn456His)
c.1432A>C (p.Asn478His)
c.949A>C (p.Asn317His)
c.973A>C (p.Asn325His)
5g.162153333A>GCA362184119GABRG2c.1394A>G
c.1489A>G (p.Asn497Asp)
c.1452A>G
n.647A>G
c.1084A>G (p.Asn362Asp)
c.1108A>G (p.Asn370Asp)
c.*3990A>G (n.*3990A>G)
c.1270A>G
c.760A>G (p.Asn254Asp)
c.1369A>G (p.Asn457Asp)
c.1393A>G (p.Asn465Asp)
c.2056A>G (n.2056A>G)
c.*1574A>G (n.*1574A>G)
c.*593A>G (n.*593A>G)
c.1327A>G (p.Asn443Asp)
c.1303A>G (p.Asn435Asp)
n.667A>G
n.6340A>G
c.831A>G
c.1306A>G (p.Asn436Asp)
c.1462A>G (p.Asn488Asp)
c.1513A>G (p.Asn505Asp)
c.*971A>G (n.*971A>G)
c.1490A>G (n.1490A>G)
c.1384A>G (p.Asn462Asp)
c.*227A>G (n.*227A>G)
c.1390A>G (p.Asn464Asp)
c.1366A>G (p.Asn456Asp)
c.1432A>G (p.Asn478Asp)
c.949A>G (p.Asn317Asp)
c.973A>G (p.Asn325Asp)
5g.162153333A>TCA362184117GABRG2c.1394A>T
c.1489A>T (p.Asn497Tyr)
c.1452A>T
n.647A>T
c.1084A>T (p.Asn362Tyr)
c.1108A>T (p.Asn370Tyr)
c.*3990A>T (n.*3990A>T)
c.1270A>T
c.760A>T (p.Asn254Tyr)
c.1369A>T (p.Asn457Tyr)
c.1393A>T (p.Asn465Tyr)
c.2056A>T (n.2056A>T)
c.*1574A>T (n.*1574A>T)
c.*593A>T (n.*593A>T)
c.1327A>T (p.Asn443Tyr)
c.1303A>T (p.Asn435Tyr)
n.667A>T
n.6340A>T
c.831A>T
c.1306A>T (p.Asn436Tyr)
c.1462A>T (p.Asn488Tyr)
c.1513A>T (p.Asn505Tyr)
c.*971A>T (n.*971A>T)
c.1490A>T (n.1490A>T)
c.1384A>T (p.Asn462Tyr)
c.*227A>T (n.*227A>T)
c.1390A>T (p.Asn464Tyr)
c.1366A>T (p.Asn456Tyr)
c.1432A>T (p.Asn478Tyr)
c.949A>T (p.Asn317Tyr)
c.973A>T (p.Asn325Tyr)
 ClinVar dbSNP
5g.162153334A>CCA362184121GABRG2c.1395A>C
c.1490A>C (p.Asn497Thr)
c.1453A>C
n.648A>C
c.1085A>C (p.Asn362Thr)
c.1109A>C (p.Asn370Thr)
c.*3991A>C (n.*3991A>C)
c.1271A>C
c.761A>C (p.Asn254Thr)
c.1370A>C (p.Asn457Thr)
c.1394A>C (p.Asn465Thr)
c.2057A>C (n.2057A>C)
c.*1575A>C (n.*1575A>C)
c.*594A>C (n.*594A>C)
c.1328A>C (p.Asn443Thr)
c.1304A>C (p.Asn435Thr)
n.668A>C
n.6341A>C
c.832A>C
c.1307A>C (p.Asn436Thr)
c.1463A>C (p.Asn488Thr)
c.1514A>C (p.Asn505Thr)
c.*972A>C (n.*972A>C)
c.1491A>C (n.1491A>C)
c.1385A>C (p.Asn462Thr)
c.*228A>C (n.*228A>C)
c.1391A>C (p.Asn464Thr)
c.1367A>C (p.Asn456Thr)
c.1433A>C (p.Asn478Thr)
c.950A>C (p.Asn317Thr)
c.974A>C (p.Asn325Thr)
5g.162153334A>GCA362184123GABRG2c.1395A>G
c.1490A>G (p.Asn497Ser)
c.1453A>G
n.648A>G
c.1085A>G (p.Asn362Ser)
c.1109A>G (p.Asn370Ser)
c.*3991A>G (n.*3991A>G)
c.1271A>G
c.761A>G (p.Asn254Ser)
c.1370A>G (p.Asn457Ser)
c.1394A>G (p.Asn465Ser)
c.2057A>G (n.2057A>G)
c.*1575A>G (n.*1575A>G)
c.*594A>G (n.*594A>G)
c.1328A>G (p.Asn443Ser)
c.1304A>G (p.Asn435Ser)
n.668A>G
n.6341A>G
c.832A>G
c.1307A>G (p.Asn436Ser)
c.1463A>G (p.Asn488Ser)
c.1514A>G (p.Asn505Ser)
c.*972A>G (n.*972A>G)
c.1491A>G (n.1491A>G)
c.1385A>G (p.Asn462Ser)
c.*228A>G (n.*228A>G)
c.1391A>G (p.Asn464Ser)
c.1367A>G (p.Asn456Ser)
c.1433A>G (p.Asn478Ser)
c.950A>G (p.Asn317Ser)
c.974A>G (p.Asn325Ser)
 ClinVar dbSNP gnomAD v4
5g.162153334A>TCA362184125GABRG2c.1395A>T
c.1490A>T (p.Asn497Ile)
c.1453A>T
n.648A>T
c.1085A>T (p.Asn362Ile)
c.1109A>T (p.Asn370Ile)
c.*3991A>T (n.*3991A>T)
c.1271A>T
c.761A>T (p.Asn254Ile)
c.1370A>T (p.Asn457Ile)
c.1394A>T (p.Asn465Ile)
c.2057A>T (n.2057A>T)
c.*1575A>T (n.*1575A>T)
c.*594A>T (n.*594A>T)
c.1328A>T (p.Asn443Ile)
c.1304A>T (p.Asn435Ile)
n.668A>T
n.6341A>T
c.832A>T
c.1307A>T (p.Asn436Ile)
c.1463A>T (p.Asn488Ile)
c.1514A>T (p.Asn505Ile)
c.*972A>T (n.*972A>T)
c.1491A>T (n.1491A>T)
c.1385A>T (p.Asn462Ile)
c.*228A>T (n.*228A>T)
c.1391A>T (p.Asn464Ile)
c.1367A>T (p.Asn456Ile)
c.1433A>T (p.Asn478Ile)
c.950A>T (p.Asn317Ile)
c.974A>T (p.Asn325Ile)
5g.162153335T>ACA362184127GABRG2c.1396T>A
c.1491T>A (p.Asn497Lys)
c.1454T>A
n.649T>A
c.1086T>A (p.Asn362Lys)
c.1110T>A (p.Asn370Lys)
c.*3992T>A (n.*3992T>A)
c.1272T>A
c.762T>A (p.Asn254Lys)
c.1371T>A (p.Asn457Lys)
c.1395T>A (p.Asn465Lys)
c.2058T>A (n.2058T>A)
c.*1576T>A (n.*1576T>A)
c.*595T>A (n.*595T>A)
c.1329T>A (p.Asn443Lys)
c.1305T>A (p.Asn435Lys)
n.669T>A
n.6342T>A
c.833T>A
c.1308T>A (p.Asn436Lys)
c.1464T>A (p.Asn488Lys)
c.1515T>A (p.Asn505Lys)
c.*973T>A (n.*973T>A)
c.1492T>A (n.1492T>A)
c.1386T>A (p.Asn462Lys)
c.*229T>A (n.*229T>A)
c.1392T>A (p.Asn464Lys)
c.1368T>A (p.Asn456Lys)
c.1434T>A (p.Asn478Lys)
c.951T>A (p.Asn317Lys)
c.975T>A (p.Asn325Lys)
5g.162153335T>CCA447692015GABRG2c.1396T>C
c.1491T>C (p.Asn497=)
c.1454T>C
n.649T>C
c.1086T>C (p.Asn362=)
c.1110T>C (p.Asn370=)
c.*3992T>C (n.*3992T>C)
c.1272T>C
c.762T>C (p.Asn254=)
c.1371T>C (p.Asn457=)
c.1395T>C (p.Asn465=)
c.2058T>C (n.2058T>C)
c.*1576T>C (n.*1576T>C)
c.*595T>C (n.*595T>C)
c.1329T>C (p.Asn443=)
c.1305T>C (p.Asn435=)
n.669T>C
n.6342T>C
c.833T>C
c.1308T>C (p.Asn436=)
c.1464T>C (p.Asn488=)
c.1515T>C (p.Asn505=)
c.*973T>C (n.*973T>C)
c.1492T>C (n.1492T>C)
c.1386T>C (p.Asn462=)
c.*229T>C (n.*229T>C)
c.1392T>C (p.Asn464=)
c.1368T>C (p.Asn456=)
c.1434T>C (p.Asn478=)
c.951T>C (p.Asn317=)
c.975T>C (p.Asn325=)
5g.162153335T>GCA362184129GABRG2c.1396T>G
c.1491T>G (p.Asn497Lys)
c.1454T>G
n.649T>G
c.1086T>G (p.Asn362Lys)
c.1110T>G (p.Asn370Lys)
c.*3992T>G (n.*3992T>G)
c.1272T>G
c.762T>G (p.Asn254Lys)
c.1371T>G (p.Asn457Lys)
c.1395T>G (p.Asn465Lys)
c.2058T>G (n.2058T>G)
c.*1576T>G (n.*1576T>G)
c.*595T>G (n.*595T>G)
c.1329T>G (p.Asn443Lys)
c.1305T>G (p.Asn435Lys)
n.669T>G
n.6342T>G
c.833T>G
c.1308T>G (p.Asn436Lys)
c.1464T>G (p.Asn488Lys)
c.1515T>G (p.Asn505Lys)
c.*973T>G (n.*973T>G)
c.1492T>G (n.1492T>G)
c.1386T>G (p.Asn462Lys)
c.*229T>G (n.*229T>G)
c.1392T>G (p.Asn464Lys)
c.1368T>G (p.Asn456Lys)
c.1434T>G (p.Asn478Lys)
c.951T>G (p.Asn317Lys)
c.975T>G (p.Asn325Lys)

Number of alleles fetched