Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.162153122A=CA1596381979GABRG2c.1183A=
c.1278A= (p.Ser426=)
c.1241A=
n.436A=
c.873A= (p.Ser291=)
c.897A= (p.Ser299=)
c.*3779A= (n.*3779A=)
c.1059A=
c.549A= (p.Ser183=)
c.1158A= (p.Ser386=)
c.1182A= (p.Ser394=)
c.1845A= (n.1845A=)
c.*1363A= (n.*1363A=)
c.*382A= (n.*382A=)
c.1116A= (p.Ser372=)
c.1092A= (p.Ser364=)
n.456A=
n.6129A=
c.620A=
c.1095A= (p.Ser365=)
c.1251A= (p.Ser417=)
c.1302A= (p.Ser434=)
c.*760A= (n.*760A=)
c.1279A= (n.1279A=)
c.1173A= (p.Ser391=)
c.*16A= (n.*16A=)
c.1179A= (p.Ser393=)
c.1155A= (p.Ser385=)
c.1221A= (p.Ser407=)
c.738A= (p.Ser246=)
c.762A= (p.Ser254=)
5g.162153122A>CCA447691549GABRG2c.1183A>C
c.1278A>C (p.Ser426=)
c.1241A>C
n.436A>C
c.873A>C (p.Ser291=)
c.897A>C (p.Ser299=)
c.*3779A>C (n.*3779A>C)
c.1059A>C
c.549A>C (p.Ser183=)
c.1158A>C (p.Ser386=)
c.1182A>C (p.Ser394=)
c.1845A>C (n.1845A>C)
c.*1363A>C (n.*1363A>C)
c.*382A>C (n.*382A>C)
c.1116A>C (p.Ser372=)
c.1092A>C (p.Ser364=)
n.456A>C
n.6129A>C
c.620A>C
c.1095A>C (p.Ser365=)
c.1251A>C (p.Ser417=)
c.1302A>C (p.Ser434=)
c.*760A>C (n.*760A>C)
c.1279A>C (n.1279A>C)
c.1173A>C (p.Ser391=)
c.*16A>C (n.*16A>C)
c.1179A>C (p.Ser393=)
c.1155A>C (p.Ser385=)
c.1221A>C (p.Ser407=)
c.738A>C (p.Ser246=)
c.762A>C (p.Ser254=)
5g.162153122A>GCA447691551GABRG2c.1183A>G
c.1278A>G (p.Ser426=)
c.1241A>G
n.436A>G
c.873A>G (p.Ser291=)
c.897A>G (p.Ser299=)
c.*3779A>G (n.*3779A>G)
c.1059A>G
c.549A>G (p.Ser183=)
c.1158A>G (p.Ser386=)
c.1182A>G (p.Ser394=)
c.1845A>G (n.1845A>G)
c.*1363A>G (n.*1363A>G)
c.*382A>G (n.*382A>G)
c.1116A>G (p.Ser372=)
c.1092A>G (p.Ser364=)
n.456A>G
n.6129A>G
c.620A>G
c.1095A>G (p.Ser365=)
c.1251A>G (p.Ser417=)
c.1302A>G (p.Ser434=)
c.*760A>G (n.*760A>G)
c.1279A>G (n.1279A>G)
c.1173A>G (p.Ser391=)
c.*16A>G (n.*16A>G)
c.1179A>G (p.Ser393=)
c.1155A>G (p.Ser385=)
c.1221A>G (p.Ser407=)
c.738A>G (p.Ser246=)
c.762A>G (p.Ser254=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.162153122A>TCA447691554GABRG2c.1183A>T
c.1278A>T (p.Ser426=)
c.1241A>T
n.436A>T
c.873A>T (p.Ser291=)
c.897A>T (p.Ser299=)
c.*3779A>T (n.*3779A>T)
c.1059A>T
c.549A>T (p.Ser183=)
c.1158A>T (p.Ser386=)
c.1182A>T (p.Ser394=)
c.1845A>T (n.1845A>T)
c.*1363A>T (n.*1363A>T)
c.*382A>T (n.*382A>T)
c.1116A>T (p.Ser372=)
c.1092A>T (p.Ser364=)
n.456A>T
n.6129A>T
c.620A>T
c.1095A>T (p.Ser365=)
c.1251A>T (p.Ser417=)
c.1302A>T (p.Ser434=)
c.*760A>T (n.*760A>T)
c.1279A>T (n.1279A>T)
c.1173A>T (p.Ser391=)
c.*16A>T (n.*16A>T)
c.1179A>T (p.Ser393=)
c.1155A>T (p.Ser385=)
c.1221A>T (p.Ser407=)
c.738A>T (p.Ser246=)
c.762A>T (p.Ser254=)
5g.162153123G>ACA362183235GABRG2c.1184G>A
c.1279G>A (p.Ala427Thr)
c.1242G>A
n.437G>A
c.874G>A (p.Ala292Thr)
c.898G>A (p.Ala300Thr)
c.*3780G>A (n.*3780G>A)
c.1060G>A
c.550G>A (p.Ala184Thr)
c.1159G>A (p.Ala387Thr)
c.1183G>A (p.Ala395Thr)
c.1846G>A (n.1846G>A)
c.*1364G>A (n.*1364G>A)
c.*383G>A (n.*383G>A)
c.1117G>A (p.Ala373Thr)
c.1093G>A (p.Ala365Thr)
n.457G>A
n.6130G>A
c.621G>A
c.1096G>A (p.Ala366Thr)
c.1252G>A (p.Ala418Thr)
c.1303G>A (p.Ala435Thr)
c.*761G>A (n.*761G>A)
c.1280G>A (n.1280G>A)
c.1174G>A (p.Ala392Thr)
c.*17G>A (n.*17G>A)
c.1180G>A (p.Ala394Thr)
c.1156G>A (p.Ala386Thr)
c.1222G>A (p.Ala408Thr)
c.739G>A (p.Ala247Thr)
c.763G>A (p.Ala255Thr)
5g.162153123G>CCA362183236GABRG2c.1184G>C
c.1279G>C (p.Ala427Pro)
c.1242G>C
n.437G>C
c.874G>C (p.Ala292Pro)
c.898G>C (p.Ala300Pro)
c.*3780G>C (n.*3780G>C)
c.1060G>C
c.550G>C (p.Ala184Pro)
c.1159G>C (p.Ala387Pro)
c.1183G>C (p.Ala395Pro)
c.1846G>C (n.1846G>C)
c.*1364G>C (n.*1364G>C)
c.*383G>C (n.*383G>C)
c.1117G>C (p.Ala373Pro)
c.1093G>C (p.Ala365Pro)
n.457G>C
n.6130G>C
c.621G>C
c.1096G>C (p.Ala366Pro)
c.1252G>C (p.Ala418Pro)
c.1303G>C (p.Ala435Pro)
c.*761G>C (n.*761G>C)
c.1280G>C (n.1280G>C)
c.1174G>C (p.Ala392Pro)
c.*17G>C (n.*17G>C)
c.1180G>C (p.Ala394Pro)
c.1156G>C (p.Ala386Pro)
c.1222G>C (p.Ala408Pro)
c.739G>C (p.Ala247Pro)
c.763G>C (p.Ala255Pro)
5g.162153123G>TCA362183237GABRG2c.1184G>T
c.1279G>T (p.Ala427Ser)
c.1242G>T
n.437G>T
c.874G>T (p.Ala292Ser)
c.898G>T (p.Ala300Ser)
c.*3780G>T (n.*3780G>T)
c.1060G>T
c.550G>T (p.Ala184Ser)
c.1159G>T (p.Ala387Ser)
c.1183G>T (p.Ala395Ser)
c.1846G>T (n.1846G>T)
c.*1364G>T (n.*1364G>T)
c.*383G>T (n.*383G>T)
c.1117G>T (p.Ala373Ser)
c.1093G>T (p.Ala365Ser)
n.457G>T
n.6130G>T
c.621G>T
c.1096G>T (p.Ala366Ser)
c.1252G>T (p.Ala418Ser)
c.1303G>T (p.Ala435Ser)
c.*761G>T (n.*761G>T)
c.1280G>T (n.1280G>T)
c.1174G>T (p.Ala392Ser)
c.*17G>T (n.*17G>T)
c.1180G>T (p.Ala394Ser)
c.1156G>T (p.Ala386Ser)
c.1222G>T (p.Ala408Ser)
c.739G>T (p.Ala247Ser)
c.763G>T (p.Ala255Ser)
5g.162153124C>ACA362183238GABRG2c.1185C>A
c.1280C>A (p.Ala427Glu)
c.1243C>A
n.438C>A
c.875C>A (p.Ala292Glu)
c.899C>A (p.Ala300Glu)
c.*3781C>A (n.*3781C>A)
c.1061C>A
c.551C>A (p.Ala184Glu)
c.1160C>A (p.Ala387Glu)
c.1184C>A (p.Ala395Glu)
c.1847C>A (n.1847C>A)
c.*1365C>A (n.*1365C>A)
c.*384C>A (n.*384C>A)
c.1118C>A (p.Ala373Glu)
c.1094C>A (p.Ala365Glu)
n.458C>A
n.6131C>A
c.622C>A
c.1097C>A (p.Ala366Glu)
c.1253C>A (p.Ala418Glu)
c.1304C>A (p.Ala435Glu)
c.*762C>A (n.*762C>A)
c.1281C>A (n.1281C>A)
c.1175C>A (p.Ala392Glu)
c.*18C>A (n.*18C>A)
c.1181C>A (p.Ala394Glu)
c.1157C>A (p.Ala386Glu)
c.1223C>A (p.Ala408Glu)
c.740C>A (p.Ala247Glu)
c.764C>A (p.Ala255Glu)
5g.162153124C>GCA362183239GABRG2c.1185C>G
c.1280C>G (p.Ala427Gly)
c.1243C>G
n.438C>G
c.875C>G (p.Ala292Gly)
c.899C>G (p.Ala300Gly)
c.*3781C>G (n.*3781C>G)
c.1061C>G
c.551C>G (p.Ala184Gly)
c.1160C>G (p.Ala387Gly)
c.1184C>G (p.Ala395Gly)
c.1847C>G (n.1847C>G)
c.*1365C>G (n.*1365C>G)
c.*384C>G (n.*384C>G)
c.1118C>G (p.Ala373Gly)
c.1094C>G (p.Ala365Gly)
n.458C>G
n.6131C>G
c.622C>G
c.1097C>G (p.Ala366Gly)
c.1253C>G (p.Ala418Gly)
c.1304C>G (p.Ala435Gly)
c.*762C>G (n.*762C>G)
c.1281C>G (n.1281C>G)
c.1175C>G (p.Ala392Gly)
c.*18C>G (n.*18C>G)
c.1181C>G (p.Ala394Gly)
c.1157C>G (p.Ala386Gly)
c.1223C>G (p.Ala408Gly)
c.740C>G (p.Ala247Gly)
c.764C>G (p.Ala255Gly)
5g.162153124C>TCA362183240GABRG2c.1185C>T
c.1280C>T (p.Ala427Val)
c.1243C>T
n.438C>T
c.875C>T (p.Ala292Val)
c.899C>T (p.Ala300Val)
c.*3781C>T (n.*3781C>T)
c.1061C>T
c.551C>T (p.Ala184Val)
c.1160C>T (p.Ala387Val)
c.1184C>T (p.Ala395Val)
c.1847C>T (n.1847C>T)
c.*1365C>T (n.*1365C>T)
c.*384C>T (n.*384C>T)
c.1118C>T (p.Ala373Val)
c.1094C>T (p.Ala365Val)
n.458C>T
n.6131C>T
c.622C>T
c.1097C>T (p.Ala366Val)
c.1253C>T (p.Ala418Val)
c.1304C>T (p.Ala435Val)
c.*762C>T (n.*762C>T)
c.1281C>T (n.1281C>T)
c.1175C>T (p.Ala392Val)
c.*18C>T (n.*18C>T)
c.1181C>T (p.Ala394Val)
c.1157C>T (p.Ala386Val)
c.1223C>T (p.Ala408Val)
c.740C>T (p.Ala247Val)
c.764C>T (p.Ala255Val)
5g.162153125A>CCA447691556GABRG2c.1186A>C
c.1281A>C (p.Ala427=)
c.1244A>C
n.439A>C
c.876A>C (p.Ala292=)
c.900A>C (p.Ala300=)
c.*3782A>C (n.*3782A>C)
c.1062A>C
c.552A>C (p.Ala184=)
c.1161A>C (p.Ala387=)
c.1185A>C (p.Ala395=)
c.1848A>C (n.1848A>C)
c.*1366A>C (n.*1366A>C)
c.*385A>C (n.*385A>C)
c.1119A>C (p.Ala373=)
c.1095A>C (p.Ala365=)
n.459A>C
n.6132A>C
c.623A>C
c.1098A>C (p.Ala366=)
c.1254A>C (p.Ala418=)
c.1305A>C (p.Ala435=)
c.*763A>C (n.*763A>C)
c.1282A>C (n.1282A>C)
c.1176A>C (p.Ala392=)
c.*19A>C (n.*19A>C)
c.1182A>C (p.Ala394=)
c.1158A>C (p.Ala386=)
c.1224A>C (p.Ala408=)
c.741A>C (p.Ala247=)
c.765A>C (p.Ala255=)
5g.162153125A>GCA447691557GABRG2c.1186A>G
c.1281A>G (p.Ala427=)
c.1244A>G
n.439A>G
c.876A>G (p.Ala292=)
c.900A>G (p.Ala300=)
c.*3782A>G (n.*3782A>G)
c.1062A>G
c.552A>G (p.Ala184=)
c.1161A>G (p.Ala387=)
c.1185A>G (p.Ala395=)
c.1848A>G (n.1848A>G)
c.*1366A>G (n.*1366A>G)
c.*385A>G (n.*385A>G)
c.1119A>G (p.Ala373=)
c.1095A>G (p.Ala365=)
n.459A>G
n.6132A>G
c.623A>G
c.1098A>G (p.Ala366=)
c.1254A>G (p.Ala418=)
c.1305A>G (p.Ala435=)
c.*763A>G (n.*763A>G)
c.1282A>G (n.1282A>G)
c.1176A>G (p.Ala392=)
c.*19A>G (n.*19A>G)
c.1182A>G (p.Ala394=)
c.1158A>G (p.Ala386=)
c.1224A>G (p.Ala408=)
c.741A>G (p.Ala247=)
c.765A>G (p.Ala255=)
5g.162153125A>TCA447691559GABRG2c.1186A>T
c.1281A>T (p.Ala427=)
c.1244A>T
n.439A>T
c.876A>T (p.Ala292=)
c.900A>T (p.Ala300=)
c.*3782A>T (n.*3782A>T)
c.1062A>T
c.552A>T (p.Ala184=)
c.1161A>T (p.Ala387=)
c.1185A>T (p.Ala395=)
c.1848A>T (n.1848A>T)
c.*1366A>T (n.*1366A>T)
c.*385A>T (n.*385A>T)
c.1119A>T (p.Ala373=)
c.1095A>T (p.Ala365=)
n.459A>T
n.6132A>T
c.623A>T
c.1098A>T (p.Ala366=)
c.1254A>T (p.Ala418=)
c.1305A>T (p.Ala435=)
c.*763A>T (n.*763A>T)
c.1282A>T (n.1282A>T)
c.1176A>T (p.Ala392=)
c.*19A>T (n.*19A>T)
c.1182A>T (p.Ala394=)
c.1158A>T (p.Ala386=)
c.1224A>T (p.Ala408=)
c.741A>T (p.Ala247=)
c.765A>T (p.Ala255=)
5g.162153126A=CA1596381980GABRG2c.1187A=
c.1282A= (p.Thr428=)
c.1245A=
n.440A=
c.877A= (p.Thr293=)
c.901A= (p.Thr301=)
c.*3783A= (n.*3783A=)
c.1063A=
c.553A= (p.Thr185=)
c.1162A= (p.Thr388=)
c.1186A= (p.Thr396=)
c.1849A= (n.1849A=)
c.*1367A= (n.*1367A=)
c.*386A= (n.*386A=)
c.1120A= (p.Thr374=)
c.1096A= (p.Thr366=)
n.460A=
n.6133A=
c.624A=
c.1099A= (p.Thr367=)
c.1255A= (p.Thr419=)
c.1306A= (p.Thr436=)
c.*764A= (n.*764A=)
c.1283A= (n.1283A=)
c.1177A= (p.Thr393=)
c.*20A= (n.*20A=)
c.1183A= (p.Thr395=)
c.1159A= (p.Thr387=)
c.1225A= (p.Thr409=)
c.742A= (p.Thr248=)
c.766A= (p.Thr256=)
5g.162153126A>CCA362183241GABRG2c.1187A>C
c.1282A>C (p.Thr428Pro)
c.1245A>C
n.440A>C
c.877A>C (p.Thr293Pro)
c.901A>C (p.Thr301Pro)
c.*3783A>C (n.*3783A>C)
c.1063A>C
c.553A>C (p.Thr185Pro)
c.1162A>C (p.Thr388Pro)
c.1186A>C (p.Thr396Pro)
c.1849A>C (n.1849A>C)
c.*1367A>C (n.*1367A>C)
c.*386A>C (n.*386A>C)
c.1120A>C (p.Thr374Pro)
c.1096A>C (p.Thr366Pro)
n.460A>C
n.6133A>C
c.624A>C
c.1099A>C (p.Thr367Pro)
c.1255A>C (p.Thr419Pro)
c.1306A>C (p.Thr436Pro)
c.*764A>C (n.*764A>C)
c.1283A>C (n.1283A>C)
c.1177A>C (p.Thr393Pro)
c.*20A>C (n.*20A>C)
c.1183A>C (p.Thr395Pro)
c.1159A>C (p.Thr387Pro)
c.1225A>C (p.Thr409Pro)
c.742A>C (p.Thr248Pro)
c.766A>C (p.Thr256Pro)
5g.162153126A>GCA3544973GABRG2c.1187A>G
c.1282A>G (p.Thr428Ala)
c.1245A>G
n.440A>G
c.877A>G (p.Thr293Ala)
c.901A>G (p.Thr301Ala)
c.*3783A>G (n.*3783A>G)
c.1063A>G
c.553A>G (p.Thr185Ala)
c.1162A>G (p.Thr388Ala)
c.1186A>G (p.Thr396Ala)
c.1849A>G (n.1849A>G)
c.*1367A>G (n.*1367A>G)
c.*386A>G (n.*386A>G)
c.1120A>G (p.Thr374Ala)
c.1096A>G (p.Thr366Ala)
n.460A>G
n.6133A>G
c.624A>G
c.1099A>G (p.Thr367Ala)
c.1255A>G (p.Thr419Ala)
c.1306A>G (p.Thr436Ala)
c.*764A>G (n.*764A>G)
c.1283A>G (n.1283A>G)
c.1177A>G (p.Thr393Ala)
c.*20A>G (n.*20A>G)
c.1183A>G (p.Thr395Ala)
c.1159A>G (p.Thr387Ala)
c.1225A>G (p.Thr409Ala)
c.742A>G (p.Thr248Ala)
c.766A>G (p.Thr256Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.162153126A>TCA362183242GABRG2c.1187A>T
c.1282A>T (p.Thr428Ser)
c.1245A>T
n.440A>T
c.877A>T (p.Thr293Ser)
c.901A>T (p.Thr301Ser)
c.*3783A>T (n.*3783A>T)
c.1063A>T
c.553A>T (p.Thr185Ser)
c.1162A>T (p.Thr388Ser)
c.1186A>T (p.Thr396Ser)
c.1849A>T (n.1849A>T)
c.*1367A>T (n.*1367A>T)
c.*386A>T (n.*386A>T)
c.1120A>T (p.Thr374Ser)
c.1096A>T (p.Thr366Ser)
n.460A>T
n.6133A>T
c.624A>T
c.1099A>T (p.Thr367Ser)
c.1255A>T (p.Thr419Ser)
c.1306A>T (p.Thr436Ser)
c.*764A>T (n.*764A>T)
c.1283A>T (n.1283A>T)
c.1177A>T (p.Thr393Ser)
c.*20A>T (n.*20A>T)
c.1183A>T (p.Thr395Ser)
c.1159A>T (p.Thr387Ser)
c.1225A>T (p.Thr409Ser)
c.742A>T (p.Thr248Ser)
c.766A>T (p.Thr256Ser)
5g.162153127C>ACA362183243GABRG2c.1188C>A
c.1283C>A (p.Thr428Asn)
c.1246C>A
n.441C>A
c.878C>A (p.Thr293Asn)
c.902C>A (p.Thr301Asn)
c.*3784C>A (n.*3784C>A)
c.1064C>A
c.554C>A (p.Thr185Asn)
c.1163C>A (p.Thr388Asn)
c.1187C>A (p.Thr396Asn)
c.1850C>A (n.1850C>A)
c.*1368C>A (n.*1368C>A)
c.*387C>A (n.*387C>A)
c.1121C>A (p.Thr374Asn)
c.1097C>A (p.Thr366Asn)
n.461C>A
n.6134C>A
c.625C>A
c.1100C>A (p.Thr367Asn)
c.1256C>A (p.Thr419Asn)
c.1307C>A (p.Thr436Asn)
c.*765C>A (n.*765C>A)
c.1284C>A (n.1284C>A)
c.1178C>A (p.Thr393Asn)
c.*21C>A (n.*21C>A)
c.1184C>A (p.Thr395Asn)
c.1160C>A (p.Thr387Asn)
c.1226C>A (p.Thr409Asn)
c.743C>A (p.Thr248Asn)
c.767C>A (p.Thr256Asn)
5g.162153127C>GCA362183244GABRG2c.1188C>G
c.1283C>G (p.Thr428Ser)
c.1246C>G
n.441C>G
c.878C>G (p.Thr293Ser)
c.902C>G (p.Thr301Ser)
c.*3784C>G (n.*3784C>G)
c.1064C>G
c.554C>G (p.Thr185Ser)
c.1163C>G (p.Thr388Ser)
c.1187C>G (p.Thr396Ser)
c.1850C>G (n.1850C>G)
c.*1368C>G (n.*1368C>G)
c.*387C>G (n.*387C>G)
c.1121C>G (p.Thr374Ser)
c.1097C>G (p.Thr366Ser)
n.461C>G
n.6134C>G
c.625C>G
c.1100C>G (p.Thr367Ser)
c.1256C>G (p.Thr419Ser)
c.1307C>G (p.Thr436Ser)
c.*765C>G (n.*765C>G)
c.1284C>G (n.1284C>G)
c.1178C>G (p.Thr393Ser)
c.*21C>G (n.*21C>G)
c.1184C>G (p.Thr395Ser)
c.1160C>G (p.Thr387Ser)
c.1226C>G (p.Thr409Ser)
c.743C>G (p.Thr248Ser)
c.767C>G (p.Thr256Ser)
 gnomAD v4
5g.162153127C>TCA362183245GABRG2c.1188C>T
c.1283C>T (p.Thr428Ile)
c.1246C>T
n.441C>T
c.878C>T (p.Thr293Ile)
c.902C>T (p.Thr301Ile)
c.*3784C>T (n.*3784C>T)
c.1064C>T
c.554C>T (p.Thr185Ile)
c.1163C>T (p.Thr388Ile)
c.1187C>T (p.Thr396Ile)
c.1850C>T (n.1850C>T)
c.*1368C>T (n.*1368C>T)
c.*387C>T (n.*387C>T)
c.1121C>T (p.Thr374Ile)
c.1097C>T (p.Thr366Ile)
n.461C>T
n.6134C>T
c.625C>T
c.1100C>T (p.Thr367Ile)
c.1256C>T (p.Thr419Ile)
c.1307C>T (p.Thr436Ile)
c.*765C>T (n.*765C>T)
c.1284C>T (n.1284C>T)
c.1178C>T (p.Thr393Ile)
c.*21C>T (n.*21C>T)
c.1184C>T (p.Thr395Ile)
c.1160C>T (p.Thr387Ile)
c.1226C>T (p.Thr409Ile)
c.743C>T (p.Thr248Ile)
c.767C>T (p.Thr256Ile)
5g.162153128C>ACA447691563GABRG2c.1189C>A
c.1284C>A (p.Thr428=)
c.1247C>A
n.442C>A
c.879C>A (p.Thr293=)
c.903C>A (p.Thr301=)
c.*3785C>A (n.*3785C>A)
c.1065C>A
c.555C>A (p.Thr185=)
c.1164C>A (p.Thr388=)
c.1188C>A (p.Thr396=)
c.1851C>A (n.1851C>A)
c.*1369C>A (n.*1369C>A)
c.*388C>A (n.*388C>A)
c.1122C>A (p.Thr374=)
c.1098C>A (p.Thr366=)
n.462C>A
n.6135C>A
c.626C>A
c.1101C>A (p.Thr367=)
c.1257C>A (p.Thr419=)
c.1308C>A (p.Thr436=)
c.*766C>A (n.*766C>A)
c.1285C>A (n.1285C>A)
c.1179C>A (p.Thr393=)
c.*22C>A (n.*22C>A)
c.1185C>A (p.Thr395=)
c.1161C>A (p.Thr387=)
c.1227C>A (p.Thr409=)
c.744C>A (p.Thr248=)
c.768C>A (p.Thr256=)
5g.162153128C>GCA447691562GABRG2c.1189C>G
c.1284C>G (p.Thr428=)
c.1247C>G
n.442C>G
c.879C>G (p.Thr293=)
c.903C>G (p.Thr301=)
c.*3785C>G (n.*3785C>G)
c.1065C>G
c.555C>G (p.Thr185=)
c.1164C>G (p.Thr388=)
c.1188C>G (p.Thr396=)
c.1851C>G (n.1851C>G)
c.*1369C>G (n.*1369C>G)
c.*388C>G (n.*388C>G)
c.1122C>G (p.Thr374=)
c.1098C>G (p.Thr366=)
n.462C>G
n.6135C>G
c.626C>G
c.1101C>G (p.Thr367=)
c.1257C>G (p.Thr419=)
c.1308C>G (p.Thr436=)
c.*766C>G (n.*766C>G)
c.1285C>G (n.1285C>G)
c.1179C>G (p.Thr393=)
c.*22C>G (n.*22C>G)
c.1185C>G (p.Thr395=)
c.1161C>G (p.Thr387=)
c.1227C>G (p.Thr409=)
c.744C>G (p.Thr248=)
c.768C>G (p.Thr256=)
 gnomAD v4
5g.162153128C>TCA447691561GABRG2c.1189C>T
c.1284C>T (p.Thr428=)
c.1247C>T
n.442C>T
c.879C>T (p.Thr293=)
c.903C>T (p.Thr301=)
c.*3785C>T (n.*3785C>T)
c.1065C>T
c.555C>T (p.Thr185=)
c.1164C>T (p.Thr388=)
c.1188C>T (p.Thr396=)
c.1851C>T (n.1851C>T)
c.*1369C>T (n.*1369C>T)
c.*388C>T (n.*388C>T)
c.1122C>T (p.Thr374=)
c.1098C>T (p.Thr366=)
n.462C>T
n.6135C>T
c.626C>T
c.1101C>T (p.Thr367=)
c.1257C>T (p.Thr419=)
c.1308C>T (p.Thr436=)
c.*766C>T (n.*766C>T)
c.1285C>T (n.1285C>T)
c.1179C>T (p.Thr393=)
c.*22C>T (n.*22C>T)
c.1185C>T (p.Thr395=)
c.1161C>T (p.Thr387=)
c.1227C>T (p.Thr409=)
c.744C>T (p.Thr248=)
c.768C>T (p.Thr256=)
5g.162153129A=CA1596381981GABRG2c.1190A=
c.1285A= (p.Ile429=)
c.1248A=
n.443A=
c.880A= (p.Ile294=)
c.904A= (p.Ile302=)
c.*3786A= (n.*3786A=)
c.1066A=
c.556A= (p.Ile186=)
c.1165A= (p.Ile389=)
c.1189A= (p.Ile397=)
c.1852A= (n.1852A=)
c.*1370A= (n.*1370A=)
c.*389A= (n.*389A=)
c.1123A= (p.Ile375=)
c.1099A= (p.Ile367=)
n.463A=
n.6136A=
c.627A=
c.1102A= (p.Ile368=)
c.1258A= (p.Ile420=)
c.1309A= (p.Ile437=)
c.*767A= (n.*767A=)
c.1286A= (n.1286A=)
c.1180A= (p.Ile394=)
c.*23A= (n.*23A=)
c.1186A= (p.Ile396=)
c.1162A= (p.Ile388=)
c.1228A= (p.Ile410=)
c.745A= (p.Ile249=)
c.769A= (p.Ile257=)
5g.162153129A>CCA362183247GABRG2c.1190A>C
c.1285A>C (p.Ile429Leu)
c.1248A>C
n.443A>C
c.880A>C (p.Ile294Leu)
c.904A>C (p.Ile302Leu)
c.*3786A>C (n.*3786A>C)
c.1066A>C
c.556A>C (p.Ile186Leu)
c.1165A>C (p.Ile389Leu)
c.1189A>C (p.Ile397Leu)
c.1852A>C (n.1852A>C)
c.*1370A>C (n.*1370A>C)
c.*389A>C (n.*389A>C)
c.1123A>C (p.Ile375Leu)
c.1099A>C (p.Ile367Leu)
n.463A>C
n.6136A>C
c.627A>C
c.1102A>C (p.Ile368Leu)
c.1258A>C (p.Ile420Leu)
c.1309A>C (p.Ile437Leu)
c.*767A>C (n.*767A>C)
c.1286A>C (n.1286A>C)
c.1180A>C (p.Ile394Leu)
c.*23A>C (n.*23A>C)
c.1186A>C (p.Ile396Leu)
c.1162A>C (p.Ile388Leu)
c.1228A>C (p.Ile410Leu)
c.745A>C (p.Ile249Leu)
c.769A>C (p.Ile257Leu)
5g.162153129A>GCA3544974GABRG2c.1190A>G
c.1285A>G (p.Ile429Val)
c.1248A>G
n.443A>G
c.880A>G (p.Ile294Val)
c.904A>G (p.Ile302Val)
c.*3786A>G (n.*3786A>G)
c.1066A>G
c.556A>G (p.Ile186Val)
c.1165A>G (p.Ile389Val)
c.1189A>G (p.Ile397Val)
c.1852A>G (n.1852A>G)
c.*1370A>G (n.*1370A>G)
c.*389A>G (n.*389A>G)
c.1123A>G (p.Ile375Val)
c.1099A>G (p.Ile367Val)
n.463A>G
n.6136A>G
c.627A>G
c.1102A>G (p.Ile368Val)
c.1258A>G (p.Ile420Val)
c.1309A>G (p.Ile437Val)
c.*767A>G (n.*767A>G)
c.1286A>G (n.1286A>G)
c.1180A>G (p.Ile394Val)
c.*23A>G (n.*23A>G)
c.1186A>G (p.Ile396Val)
c.1162A>G (p.Ile388Val)
c.1228A>G (p.Ile410Val)
c.745A>G (p.Ile249Val)
c.769A>G (p.Ile257Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.162153129A>TCA362183246GABRG2c.1190A>T
c.1285A>T (p.Ile429Phe)
c.1248A>T
n.443A>T
c.880A>T (p.Ile294Phe)
c.904A>T (p.Ile302Phe)
c.*3786A>T (n.*3786A>T)
c.1066A>T
c.556A>T (p.Ile186Phe)
c.1165A>T (p.Ile389Phe)
c.1189A>T (p.Ile397Phe)
c.1852A>T (n.1852A>T)
c.*1370A>T (n.*1370A>T)
c.*389A>T (n.*389A>T)
c.1123A>T (p.Ile375Phe)
c.1099A>T (p.Ile367Phe)
n.463A>T
n.6136A>T
c.627A>T
c.1102A>T (p.Ile368Phe)
c.1258A>T (p.Ile420Phe)
c.1309A>T (p.Ile437Phe)
c.*767A>T (n.*767A>T)
c.1286A>T (n.1286A>T)
c.1180A>T (p.Ile394Phe)
c.*23A>T (n.*23A>T)
c.1186A>T (p.Ile396Phe)
c.1162A>T (p.Ile388Phe)
c.1228A>T (p.Ile410Phe)
c.745A>T (p.Ile249Phe)
c.769A>T (p.Ile257Phe)
5g.162153130T>ACA362183248GABRG2c.1191T>A
c.1286T>A (p.Ile429Asn)
c.1249T>A
n.444T>A
c.881T>A (p.Ile294Asn)
c.905T>A (p.Ile302Asn)
c.*3787T>A (n.*3787T>A)
c.1067T>A
c.557T>A (p.Ile186Asn)
c.1166T>A (p.Ile389Asn)
c.1190T>A (p.Ile397Asn)
c.1853T>A (n.1853T>A)
c.*1371T>A (n.*1371T>A)
c.*390T>A (n.*390T>A)
c.1124T>A (p.Ile375Asn)
c.1100T>A (p.Ile367Asn)
n.464T>A
n.6137T>A
c.628T>A
c.1103T>A (p.Ile368Asn)
c.1259T>A (p.Ile420Asn)
c.1310T>A (p.Ile437Asn)
c.*768T>A (n.*768T>A)
c.1287T>A (n.1287T>A)
c.1181T>A (p.Ile394Asn)
c.*24T>A (n.*24T>A)
c.1187T>A (p.Ile396Asn)
c.1163T>A (p.Ile388Asn)
c.1229T>A (p.Ile410Asn)
c.746T>A (p.Ile249Asn)
c.770T>A (p.Ile257Asn)
5g.162153130T>CCA362183249GABRG2c.1191T>C
c.1286T>C (p.Ile429Thr)
c.1249T>C
n.444T>C
c.881T>C (p.Ile294Thr)
c.905T>C (p.Ile302Thr)
c.*3787T>C (n.*3787T>C)
c.1067T>C
c.557T>C (p.Ile186Thr)
c.1166T>C (p.Ile389Thr)
c.1190T>C (p.Ile397Thr)
c.1853T>C (n.1853T>C)
c.*1371T>C (n.*1371T>C)
c.*390T>C (n.*390T>C)
c.1124T>C (p.Ile375Thr)
c.1100T>C (p.Ile367Thr)
n.464T>C
n.6137T>C
c.628T>C
c.1103T>C (p.Ile368Thr)
c.1259T>C (p.Ile420Thr)
c.1310T>C (p.Ile437Thr)
c.*768T>C (n.*768T>C)
c.1287T>C (n.1287T>C)
c.1181T>C (p.Ile394Thr)
c.*24T>C (n.*24T>C)
c.1187T>C (p.Ile396Thr)
c.1163T>C (p.Ile388Thr)
c.1229T>C (p.Ile410Thr)
c.746T>C (p.Ile249Thr)
c.770T>C (p.Ile257Thr)
5g.162153130T>GCA362183250GABRG2c.1191T>G
c.1286T>G (p.Ile429Ser)
c.1249T>G
n.444T>G
c.881T>G (p.Ile294Ser)
c.905T>G (p.Ile302Ser)
c.*3787T>G (n.*3787T>G)
c.1067T>G
c.557T>G (p.Ile186Ser)
c.1166T>G (p.Ile389Ser)
c.1190T>G (p.Ile397Ser)
c.1853T>G (n.1853T>G)
c.*1371T>G (n.*1371T>G)
c.*390T>G (n.*390T>G)
c.1124T>G (p.Ile375Ser)
c.1100T>G (p.Ile367Ser)
n.464T>G
n.6137T>G
c.628T>G
c.1103T>G (p.Ile368Ser)
c.1259T>G (p.Ile420Ser)
c.1310T>G (p.Ile437Ser)
c.*768T>G (n.*768T>G)
c.1287T>G (n.1287T>G)
c.1181T>G (p.Ile394Ser)
c.*24T>G (n.*24T>G)
c.1187T>G (p.Ile396Ser)
c.1163T>G (p.Ile388Ser)
c.1229T>G (p.Ile410Ser)
c.746T>G (p.Ile249Ser)
c.770T>G (p.Ile257Ser)
5g.162153131T>ACA447691568GABRG2c.1192T>A
c.1287T>A (p.Ile429=)
c.1250T>A
n.445T>A
c.882T>A (p.Ile294=)
c.906T>A (p.Ile302=)
c.*3788T>A (n.*3788T>A)
c.1068T>A
c.558T>A (p.Ile186=)
c.1167T>A (p.Ile389=)
c.1191T>A (p.Ile397=)
c.1854T>A (n.1854T>A)
c.*1372T>A (n.*1372T>A)
c.*391T>A (n.*391T>A)
c.1125T>A (p.Ile375=)
c.1101T>A (p.Ile367=)
n.465T>A
n.6138T>A
c.629T>A
c.1104T>A (p.Ile368=)
c.1260T>A (p.Ile420=)
c.1311T>A (p.Ile437=)
c.*769T>A (n.*769T>A)
c.1288T>A (n.1288T>A)
c.1182T>A (p.Ile394=)
c.*25T>A (n.*25T>A)
c.1188T>A (p.Ile396=)
c.1164T>A (p.Ile388=)
c.1230T>A (p.Ile410=)
c.747T>A (p.Ile249=)
c.771T>A (p.Ile257=)
5g.162153131T>CCA447691567GABRG2c.1192T>C
c.1287T>C (p.Ile429=)
c.1250T>C
n.445T>C
c.882T>C (p.Ile294=)
c.906T>C (p.Ile302=)
c.*3788T>C (n.*3788T>C)
c.1068T>C
c.558T>C (p.Ile186=)
c.1167T>C (p.Ile389=)
c.1191T>C (p.Ile397=)
c.1854T>C (n.1854T>C)
c.*1372T>C (n.*1372T>C)
c.*391T>C (n.*391T>C)
c.1125T>C (p.Ile375=)
c.1101T>C (p.Ile367=)
n.465T>C
n.6138T>C
c.629T>C
c.1104T>C (p.Ile368=)
c.1260T>C (p.Ile420=)
c.1311T>C (p.Ile437=)
c.*769T>C (n.*769T>C)
c.1288T>C (n.1288T>C)
c.1182T>C (p.Ile394=)
c.*25T>C (n.*25T>C)
c.1188T>C (p.Ile396=)
c.1164T>C (p.Ile388=)
c.1230T>C (p.Ile410=)
c.747T>C (p.Ile249=)
c.771T>C (p.Ile257=)
5g.162153131T>GCA362183251GABRG2c.1192T>G
c.1287T>G (p.Ile429Met)
c.1250T>G
n.445T>G
c.882T>G (p.Ile294Met)
c.906T>G (p.Ile302Met)
c.*3788T>G (n.*3788T>G)
c.1068T>G
c.558T>G (p.Ile186Met)
c.1167T>G (p.Ile389Met)
c.1191T>G (p.Ile397Met)
c.1854T>G (n.1854T>G)
c.*1372T>G (n.*1372T>G)
c.*391T>G (n.*391T>G)
c.1125T>G (p.Ile375Met)
c.1101T>G (p.Ile367Met)
n.465T>G
n.6138T>G
c.629T>G
c.1104T>G (p.Ile368Met)
c.1260T>G (p.Ile420Met)
c.1311T>G (p.Ile437Met)
c.*769T>G (n.*769T>G)
c.1288T>G (n.1288T>G)
c.1182T>G (p.Ile394Met)
c.*25T>G (n.*25T>G)
c.1188T>G (p.Ile396Met)
c.1164T>G (p.Ile388Met)
c.1230T>G (p.Ile410Met)
c.747T>G (p.Ile249Met)
c.771T>G (p.Ile257Met)
5g.162153132C>ACA362183252GABRG2c.1193C>A
c.1288C>A (p.Gln430Lys)
c.1251C>A
n.446C>A
c.883C>A (p.Gln295Lys)
c.907C>A (p.Gln303Lys)
c.*3789C>A (n.*3789C>A)
c.1069C>A
c.559C>A (p.Gln187Lys)
c.1168C>A (p.Gln390Lys)
c.1192C>A (p.Gln398Lys)
c.1855C>A (n.1855C>A)
c.*1373C>A (n.*1373C>A)
c.*392C>A (n.*392C>A)
c.1126C>A (p.Gln376Lys)
c.1102C>A (p.Gln368Lys)
n.466C>A
n.6139C>A
c.630C>A
c.1105C>A (p.Gln369Lys)
c.1261C>A (p.Gln421Lys)
c.1312C>A (p.Gln438Lys)
c.*770C>A (n.*770C>A)
c.1289C>A (n.1289C>A)
c.1183C>A (p.Gln395Lys)
c.*26C>A (n.*26C>A)
c.1189C>A (p.Gln397Lys)
c.1165C>A (p.Gln389Lys)
c.1231C>A (p.Gln411Lys)
c.748C>A (p.Gln250Lys)
c.772C>A (p.Gln258Lys)
5g.162153132C=CA1596381982GABRG2c.1193C=
c.1288C= (p.Gln430=)
c.1251C=
n.446C=
c.883C= (p.Gln295=)
c.907C= (p.Gln303=)
c.*3789C= (n.*3789C=)
c.1069C=
c.559C= (p.Gln187=)
c.1168C= (p.Gln390=)
c.1192C= (p.Gln398=)
c.1855C= (n.1855C=)
c.*1373C= (n.*1373C=)
c.*392C= (n.*392C=)
c.1126C= (p.Gln376=)
c.1102C= (p.Gln368=)
n.466C=
n.6139C=
c.630C=
c.1105C= (p.Gln369=)
c.1261C= (p.Gln421=)
c.1312C= (p.Gln438=)
c.*770C= (n.*770C=)
c.1289C= (n.1289C=)
c.1183C= (p.Gln395=)
c.*26C= (n.*26C=)
c.1189C= (p.Gln397=)
c.1165C= (p.Gln389=)
c.1231C= (p.Gln411=)
c.748C= (p.Gln250=)
c.772C= (p.Gln258=)
5g.162153132C>GCA362183253GABRG2c.1193C>G
c.1288C>G (p.Gln430Glu)
c.1251C>G
n.446C>G
c.883C>G (p.Gln295Glu)
c.907C>G (p.Gln303Glu)
c.*3789C>G (n.*3789C>G)
c.1069C>G
c.559C>G (p.Gln187Glu)
c.1168C>G (p.Gln390Glu)
c.1192C>G (p.Gln398Glu)
c.1855C>G (n.1855C>G)
c.*1373C>G (n.*1373C>G)
c.*392C>G (n.*392C>G)
c.1126C>G (p.Gln376Glu)
c.1102C>G (p.Gln368Glu)
n.466C>G
n.6139C>G
c.630C>G
c.1105C>G (p.Gln369Glu)
c.1261C>G (p.Gln421Glu)
c.1312C>G (p.Gln438Glu)
c.*770C>G (n.*770C>G)
c.1289C>G (n.1289C>G)
c.1183C>G (p.Gln395Glu)
c.*26C>G (n.*26C>G)
c.1189C>G (p.Gln397Glu)
c.1165C>G (p.Gln389Glu)
c.1231C>G (p.Gln411Glu)
c.748C>G (p.Gln250Glu)
c.772C>G (p.Gln258Glu)
 COSMIC
5g.162153132C>TCA126269GABRG2c.1193C>T
c.1288C>T (p.Gln430Ter)
c.1251C>T
n.446C>T
c.883C>T (p.Gln295Ter)
c.907C>T (p.Gln303Ter)
c.*3789C>T (n.*3789C>T)
c.1069C>T
c.559C>T (p.Gln187Ter)
c.1168C>T (p.Gln390Ter)
c.1192C>T (p.Gln398Ter)
c.1855C>T (n.1855C>T)
c.*1373C>T (n.*1373C>T)
c.*392C>T (n.*392C>T)
c.1126C>T (p.Gln376Ter)
c.1102C>T (p.Gln368Ter)
n.466C>T
n.6139C>T
c.630C>T
c.1105C>T (p.Gln369Ter)
c.1261C>T (p.Gln421Ter)
c.1312C>T (p.Gln438Ter)
c.*770C>T (n.*770C>T)
c.1289C>T (n.1289C>T)
c.1183C>T (p.Gln395Ter)
c.*26C>T (n.*26C>T)
c.1189C>T (p.Gln397Ter)
c.1165C>T (p.Gln389Ter)
c.1231C>T (p.Gln411Ter)
c.748C>T (p.Gln250Ter)
c.772C>T (p.Gln258Ter)
 ClinVar dbSNP COSMIC
5g.162153133A>CCA362183254GABRG2c.1194A>C
c.1289A>C (p.Gln430Pro)
c.1252A>C
n.447A>C
c.884A>C (p.Gln295Pro)
c.908A>C (p.Gln303Pro)
c.*3790A>C (n.*3790A>C)
c.1070A>C
c.560A>C (p.Gln187Pro)
c.1169A>C (p.Gln390Pro)
c.1193A>C (p.Gln398Pro)
c.1856A>C (n.1856A>C)
c.*1374A>C (n.*1374A>C)
c.*393A>C (n.*393A>C)
c.1127A>C (p.Gln376Pro)
c.1103A>C (p.Gln368Pro)
n.467A>C
n.6140A>C
c.631A>C
c.1106A>C (p.Gln369Pro)
c.1262A>C (p.Gln421Pro)
c.1313A>C (p.Gln438Pro)
c.*771A>C (n.*771A>C)
c.1290A>C (n.1290A>C)
c.1184A>C (p.Gln395Pro)
c.*27A>C (n.*27A>C)
c.1190A>C (p.Gln397Pro)
c.1166A>C (p.Gln389Pro)
c.1232A>C (p.Gln411Pro)
c.749A>C (p.Gln250Pro)
c.773A>C (p.Gln258Pro)
5g.162153133A>GCA362183255GABRG2c.1194A>G
c.1289A>G (p.Gln430Arg)
c.1252A>G
n.447A>G
c.884A>G (p.Gln295Arg)
c.908A>G (p.Gln303Arg)
c.*3790A>G (n.*3790A>G)
c.1070A>G
c.560A>G (p.Gln187Arg)
c.1169A>G (p.Gln390Arg)
c.1193A>G (p.Gln398Arg)
c.1856A>G (n.1856A>G)
c.*1374A>G (n.*1374A>G)
c.*393A>G (n.*393A>G)
c.1127A>G (p.Gln376Arg)
c.1103A>G (p.Gln368Arg)
n.467A>G
n.6140A>G
c.631A>G
c.1106A>G (p.Gln369Arg)
c.1262A>G (p.Gln421Arg)
c.1313A>G (p.Gln438Arg)
c.*771A>G (n.*771A>G)
c.1290A>G (n.1290A>G)
c.1184A>G (p.Gln395Arg)
c.*27A>G (n.*27A>G)
c.1190A>G (p.Gln397Arg)
c.1166A>G (p.Gln389Arg)
c.1232A>G (p.Gln411Arg)
c.749A>G (p.Gln250Arg)
c.773A>G (p.Gln258Arg)
5g.162153133A>TCA362183256GABRG2c.1194A>T
c.1289A>T (p.Gln430Leu)
c.1252A>T
n.447A>T
c.884A>T (p.Gln295Leu)
c.908A>T (p.Gln303Leu)
c.*3790A>T (n.*3790A>T)
c.1070A>T
c.560A>T (p.Gln187Leu)
c.1169A>T (p.Gln390Leu)
c.1193A>T (p.Gln398Leu)
c.1856A>T (n.1856A>T)
c.*1374A>T (n.*1374A>T)
c.*393A>T (n.*393A>T)
c.1127A>T (p.Gln376Leu)
c.1103A>T (p.Gln368Leu)
n.467A>T
n.6140A>T
c.631A>T
c.1106A>T (p.Gln369Leu)
c.1262A>T (p.Gln421Leu)
c.1313A>T (p.Gln438Leu)
c.*771A>T (n.*771A>T)
c.1290A>T (n.1290A>T)
c.1184A>T (p.Gln395Leu)
c.*27A>T (n.*27A>T)
c.1190A>T (p.Gln397Leu)
c.1166A>T (p.Gln389Leu)
c.1232A>T (p.Gln411Leu)
c.749A>T (p.Gln250Leu)
c.773A>T (p.Gln258Leu)
5g.162153134A>CCA362183257GABRG2c.1195A>C
c.1290A>C (p.Gln430His)
c.1253A>C
n.448A>C
c.885A>C (p.Gln295His)
c.909A>C (p.Gln303His)
c.*3791A>C (n.*3791A>C)
c.1071A>C
c.561A>C (p.Gln187His)
c.1170A>C (p.Gln390His)
c.1194A>C (p.Gln398His)
c.1857A>C (n.1857A>C)
c.*1375A>C (n.*1375A>C)
c.*394A>C (n.*394A>C)
c.1128A>C (p.Gln376His)
c.1104A>C (p.Gln368His)
n.468A>C
n.6141A>C
c.632A>C
c.1107A>C (p.Gln369His)
c.1263A>C (p.Gln421His)
c.1314A>C (p.Gln438His)
c.*772A>C (n.*772A>C)
c.1291A>C (n.1291A>C)
c.1185A>C (p.Gln395His)
c.*28A>C (n.*28A>C)
c.1191A>C (p.Gln397His)
c.1167A>C (p.Gln389His)
c.1233A>C (p.Gln411His)
c.750A>C (p.Gln250His)
c.774A>C (p.Gln258His)
5g.162153134A>GCA447691576GABRG2c.1195A>G
c.1290A>G (p.Gln430=)
c.1253A>G
n.448A>G
c.885A>G (p.Gln295=)
c.909A>G (p.Gln303=)
c.*3791A>G (n.*3791A>G)
c.1071A>G
c.561A>G (p.Gln187=)
c.1170A>G (p.Gln390=)
c.1194A>G (p.Gln398=)
c.1857A>G (n.1857A>G)
c.*1375A>G (n.*1375A>G)
c.*394A>G (n.*394A>G)
c.1128A>G (p.Gln376=)
c.1104A>G (p.Gln368=)
n.468A>G
n.6141A>G
c.632A>G
c.1107A>G (p.Gln369=)
c.1263A>G (p.Gln421=)
c.1314A>G (p.Gln438=)
c.*772A>G (n.*772A>G)
c.1291A>G (n.1291A>G)
c.1185A>G (p.Gln395=)
c.*28A>G (n.*28A>G)
c.1191A>G (p.Gln397=)
c.1167A>G (p.Gln389=)
c.1233A>G (p.Gln411=)
c.750A>G (p.Gln250=)
c.774A>G (p.Gln258=)
5g.162153134A>TCA362183258GABRG2c.1195A>T
c.1290A>T (p.Gln430His)
c.1253A>T
n.448A>T
c.885A>T (p.Gln295His)
c.909A>T (p.Gln303His)
c.*3791A>T (n.*3791A>T)
c.1071A>T
c.561A>T (p.Gln187His)
c.1170A>T (p.Gln390His)
c.1194A>T (p.Gln398His)
c.1857A>T (n.1857A>T)
c.*1375A>T (n.*1375A>T)
c.*394A>T (n.*394A>T)
c.1128A>T (p.Gln376His)
c.1104A>T (p.Gln368His)
n.468A>T
n.6141A>T
c.632A>T
c.1107A>T (p.Gln369His)
c.1263A>T (p.Gln421His)
c.1314A>T (p.Gln438His)
c.*772A>T (n.*772A>T)
c.1291A>T (n.1291A>T)
c.1185A>T (p.Gln395His)
c.*28A>T (n.*28A>T)
c.1191A>T (p.Gln397His)
c.1167A>T (p.Gln389His)
c.1233A>T (p.Gln411His)
c.750A>T (p.Gln250His)
c.774A>T (p.Gln258His)
5g.162153135A=CA1596381983GABRG2c.1196A=
c.1291A= (p.Met431=)
c.1254A=
n.449A=
c.886A= (p.Met296=)
c.910A= (p.Met304=)
c.*3792A= (n.*3792A=)
c.1072A=
c.562A= (p.Met188=)
c.1171A= (p.Met391=)
c.1195A= (p.Met399=)
c.1858A= (n.1858A=)
c.*1376A= (n.*1376A=)
c.*395A= (n.*395A=)
c.1129A= (p.Met377=)
c.1105A= (p.Met369=)
n.469A=
n.6142A=
c.633A=
c.1108A= (p.Met370=)
c.1264A= (p.Met422=)
c.1315A= (p.Met439=)
c.*773A= (n.*773A=)
c.1292A= (n.1292A=)
c.1186A= (p.Met396=)
c.*29A= (n.*29A=)
c.1192A= (p.Met398=)
c.1168A= (p.Met390=)
c.1234A= (p.Met412=)
c.751A= (p.Met251=)
c.775A= (p.Met259=)
5g.162153135A>CCA362183260GABRG2c.1196A>C
c.1291A>C (p.Met431Leu)
c.1254A>C
n.449A>C
c.886A>C (p.Met296Leu)
c.910A>C (p.Met304Leu)
c.*3792A>C (n.*3792A>C)
c.1072A>C
c.562A>C (p.Met188Leu)
c.1171A>C (p.Met391Leu)
c.1195A>C (p.Met399Leu)
c.1858A>C (n.1858A>C)
c.*1376A>C (n.*1376A>C)
c.*395A>C (n.*395A>C)
c.1129A>C (p.Met377Leu)
c.1105A>C (p.Met369Leu)
n.469A>C
n.6142A>C
c.633A>C
c.1108A>C (p.Met370Leu)
c.1264A>C (p.Met422Leu)
c.1315A>C (p.Met439Leu)
c.*773A>C (n.*773A>C)
c.1292A>C (n.1292A>C)
c.1186A>C (p.Met396Leu)
c.*29A>C (n.*29A>C)
c.1192A>C (p.Met398Leu)
c.1168A>C (p.Met390Leu)
c.1234A>C (p.Met412Leu)
c.751A>C (p.Met251Leu)
c.775A>C (p.Met259Leu)
5g.162153135A>GCA3544975GABRG2c.1196A>G
c.1291A>G (p.Met431Val)
c.1254A>G
n.449A>G
c.886A>G (p.Met296Val)
c.910A>G (p.Met304Val)
c.*3792A>G (n.*3792A>G)
c.1072A>G
c.562A>G (p.Met188Val)
c.1171A>G (p.Met391Val)
c.1195A>G (p.Met399Val)
c.1858A>G (n.1858A>G)
c.*1376A>G (n.*1376A>G)
c.*395A>G (n.*395A>G)
c.1129A>G (p.Met377Val)
c.1105A>G (p.Met369Val)
n.469A>G
n.6142A>G
c.633A>G
c.1108A>G (p.Met370Val)
c.1264A>G (p.Met422Val)
c.1315A>G (p.Met439Val)
c.*773A>G (n.*773A>G)
c.1292A>G (n.1292A>G)
c.1186A>G (p.Met396Val)
c.*29A>G (n.*29A>G)
c.1192A>G (p.Met398Val)
c.1168A>G (p.Met390Val)
c.1234A>G (p.Met412Val)
c.751A>G (p.Met251Val)
c.775A>G (p.Met259Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.162153135A>TCA362183259GABRG2c.1196A>T
c.1291A>T (p.Met431Leu)
c.1254A>T
n.449A>T
c.886A>T (p.Met296Leu)
c.910A>T (p.Met304Leu)
c.*3792A>T (n.*3792A>T)
c.1072A>T
c.562A>T (p.Met188Leu)
c.1171A>T (p.Met391Leu)
c.1195A>T (p.Met399Leu)
c.1858A>T (n.1858A>T)
c.*1376A>T (n.*1376A>T)
c.*395A>T (n.*395A>T)
c.1129A>T (p.Met377Leu)
c.1105A>T (p.Met369Leu)
n.469A>T
n.6142A>T
c.633A>T
c.1108A>T (p.Met370Leu)
c.1264A>T (p.Met422Leu)
c.1315A>T (p.Met439Leu)
c.*773A>T (n.*773A>T)
c.1292A>T (n.1292A>T)
c.1186A>T (p.Met396Leu)
c.*29A>T (n.*29A>T)
c.1192A>T (p.Met398Leu)
c.1168A>T (p.Met390Leu)
c.1234A>T (p.Met412Leu)
c.751A>T (p.Met251Leu)
c.775A>T (p.Met259Leu)
 COSMIC
5g.162153136T>ACA362183261GABRG2c.1197T>A
c.1292T>A (p.Met431Lys)
c.1255T>A
n.450T>A
c.887T>A (p.Met296Lys)
c.911T>A (p.Met304Lys)
c.*3793T>A (n.*3793T>A)
c.1073T>A
c.563T>A (p.Met188Lys)
c.1172T>A (p.Met391Lys)
c.1196T>A (p.Met399Lys)
c.1859T>A (n.1859T>A)
c.*1377T>A (n.*1377T>A)
c.*396T>A (n.*396T>A)
c.1130T>A (p.Met377Lys)
c.1106T>A (p.Met369Lys)
n.470T>A
n.6143T>A
c.634T>A
c.1109T>A (p.Met370Lys)
c.1265T>A (p.Met422Lys)
c.1316T>A (p.Met439Lys)
c.*774T>A (n.*774T>A)
c.1293T>A (n.1293T>A)
c.1187T>A (p.Met396Lys)
c.*30T>A (n.*30T>A)
c.1193T>A (p.Met398Lys)
c.1169T>A (p.Met390Lys)
c.1235T>A (p.Met412Lys)
c.752T>A (p.Met251Lys)
c.776T>A (p.Met259Lys)
5g.162153136T>CCA362183262GABRG2c.1197T>C
c.1292T>C (p.Met431Thr)
c.1255T>C
n.450T>C
c.887T>C (p.Met296Thr)
c.911T>C (p.Met304Thr)
c.*3793T>C (n.*3793T>C)
c.1073T>C
c.563T>C (p.Met188Thr)
c.1172T>C (p.Met391Thr)
c.1196T>C (p.Met399Thr)
c.1859T>C (n.1859T>C)
c.*1377T>C (n.*1377T>C)
c.*396T>C (n.*396T>C)
c.1130T>C (p.Met377Thr)
c.1106T>C (p.Met369Thr)
n.470T>C
n.6143T>C
c.634T>C
c.1109T>C (p.Met370Thr)
c.1265T>C (p.Met422Thr)
c.1316T>C (p.Met439Thr)
c.*774T>C (n.*774T>C)
c.1293T>C (n.1293T>C)
c.1187T>C (p.Met396Thr)
c.*30T>C (n.*30T>C)
c.1193T>C (p.Met398Thr)
c.1169T>C (p.Met390Thr)
c.1235T>C (p.Met412Thr)
c.752T>C (p.Met251Thr)
c.776T>C (p.Met259Thr)
5g.162153136T>GCA362183263GABRG2c.1197T>G
c.1292T>G (p.Met431Arg)
c.1255T>G
n.450T>G
c.887T>G (p.Met296Arg)
c.911T>G (p.Met304Arg)
c.*3793T>G (n.*3793T>G)
c.1073T>G
c.563T>G (p.Met188Arg)
c.1172T>G (p.Met391Arg)
c.1196T>G (p.Met399Arg)
c.1859T>G (n.1859T>G)
c.*1377T>G (n.*1377T>G)
c.*396T>G (n.*396T>G)
c.1130T>G (p.Met377Arg)
c.1106T>G (p.Met369Arg)
n.470T>G
n.6143T>G
c.634T>G
c.1109T>G (p.Met370Arg)
c.1265T>G (p.Met422Arg)
c.1316T>G (p.Met439Arg)
c.*774T>G (n.*774T>G)
c.1293T>G (n.1293T>G)
c.1187T>G (p.Met396Arg)
c.*30T>G (n.*30T>G)
c.1193T>G (p.Met398Arg)
c.1169T>G (p.Met390Arg)
c.1235T>G (p.Met412Arg)
c.752T>G (p.Met251Arg)
c.776T>G (p.Met259Arg)
5g.162153137G>ACA362183264GABRG2c.1198G>A
c.1293G>A (p.Met431Ile)
c.1256G>A
n.451G>A
c.888G>A (p.Met296Ile)
c.912G>A (p.Met304Ile)
c.*3794G>A (n.*3794G>A)
c.1074G>A
c.564G>A (p.Met188Ile)
c.1173G>A (p.Met391Ile)
c.1197G>A (p.Met399Ile)
c.1860G>A (n.1860G>A)
c.*1378G>A (n.*1378G>A)
c.*397G>A (n.*397G>A)
c.1131G>A (p.Met377Ile)
c.1107G>A (p.Met369Ile)
n.471G>A
n.6144G>A
c.635G>A
c.1110G>A (p.Met370Ile)
c.1266G>A (p.Met422Ile)
c.1317G>A (p.Met439Ile)
c.*775G>A (n.*775G>A)
c.1294G>A (n.1294G>A)
c.1188G>A (p.Met396Ile)
c.*31G>A (n.*31G>A)
c.1194G>A (p.Met398Ile)
c.1170G>A (p.Met390Ile)
c.1236G>A (p.Met412Ile)
c.753G>A (p.Met251Ile)
c.777G>A (p.Met259Ile)
5g.162153137G>CCA362183265GABRG2c.1198G>C
c.1293G>C (p.Met431Ile)
c.1256G>C
n.451G>C
c.888G>C (p.Met296Ile)
c.912G>C (p.Met304Ile)
c.*3794G>C (n.*3794G>C)
c.1074G>C
c.564G>C (p.Met188Ile)
c.1173G>C (p.Met391Ile)
c.1197G>C (p.Met399Ile)
c.1860G>C (n.1860G>C)
c.*1378G>C (n.*1378G>C)
c.*397G>C (n.*397G>C)
c.1131G>C (p.Met377Ile)
c.1107G>C (p.Met369Ile)
n.471G>C
n.6144G>C
c.635G>C
c.1110G>C (p.Met370Ile)
c.1266G>C (p.Met422Ile)
c.1317G>C (p.Met439Ile)
c.*775G>C (n.*775G>C)
c.1294G>C (n.1294G>C)
c.1188G>C (p.Met396Ile)
c.*31G>C (n.*31G>C)
c.1194G>C (p.Met398Ile)
c.1170G>C (p.Met390Ile)
c.1236G>C (p.Met412Ile)
c.753G>C (p.Met251Ile)
c.777G>C (p.Met259Ile)
5g.162153137G=CA1596381985GABRG2c.1198G=
c.1293G= (p.Met431=)
c.1256G=
n.451G=
c.888G= (p.Met296=)
c.912G= (p.Met304=)
c.*3794G= (n.*3794G=)
c.1074G=
c.564G= (p.Met188=)
c.1173G= (p.Met391=)
c.1197G= (p.Met399=)
c.1860G= (n.1860G=)
c.*1378G= (n.*1378G=)
c.*397G= (n.*397G=)
c.1131G= (p.Met377=)
c.1107G= (p.Met369=)
n.471G=
n.6144G=
c.635G=
c.1110G= (p.Met370=)
c.1266G= (p.Met422=)
c.1317G= (p.Met439=)
c.*775G= (n.*775G=)
c.1294G= (n.1294G=)
c.1188G= (p.Met396=)
c.*31G= (n.*31G=)
c.1194G= (p.Met398=)
c.1170G= (p.Met390=)
c.1236G= (p.Met412=)
c.753G= (p.Met251=)
c.777G= (p.Met259=)
5g.162153137G>TCA362183266GABRG2c.1198G>T
c.1293G>T (p.Met431Ile)
c.1256G>T
n.451G>T
c.888G>T (p.Met296Ile)
c.912G>T (p.Met304Ile)
c.*3794G>T (n.*3794G>T)
c.1074G>T
c.564G>T (p.Met188Ile)
c.1173G>T (p.Met391Ile)
c.1197G>T (p.Met399Ile)
c.1860G>T (n.1860G>T)
c.*1378G>T (n.*1378G>T)
c.*397G>T (n.*397G>T)
c.1131G>T (p.Met377Ile)
c.1107G>T (p.Met369Ile)
n.471G>T
n.6144G>T
c.635G>T
c.1110G>T (p.Met370Ile)
c.1266G>T (p.Met422Ile)
c.1317G>T (p.Met439Ile)
c.*775G>T (n.*775G>T)
c.1294G>T (n.1294G>T)
c.1188G>T (p.Met396Ile)
c.*31G>T (n.*31G>T)
c.1194G>T (p.Met398Ile)
c.1170G>T (p.Met390Ile)
c.1236G>T (p.Met412Ile)
c.753G>T (p.Met251Ile)
c.777G>T (p.Met259Ile)
 ClinVar dbSNP gnomAD v4 COSMIC
5g.162153138A>CCA362183271GABRG2c.1199A>C
c.1294A>C (p.Asn432His)
c.1257A>C
n.452A>C
c.889A>C (p.Asn297His)
c.913A>C (p.Asn305His)
c.*3795A>C (n.*3795A>C)
c.1075A>C
c.565A>C (p.Asn189His)
c.1174A>C (p.Asn392His)
c.1198A>C (p.Asn400His)
c.1861A>C (n.1861A>C)
c.*1379A>C (n.*1379A>C)
c.*398A>C (n.*398A>C)
c.1132A>C (p.Asn378His)
c.1108A>C (p.Asn370His)
n.472A>C
n.6145A>C
c.636A>C
c.1111A>C (p.Asn371His)
c.1267A>C (p.Asn423His)
c.1318A>C (p.Asn440His)
c.*776A>C (n.*776A>C)
c.1295A>C (n.1295A>C)
c.1189A>C (p.Asn397His)
c.*32A>C (n.*32A>C)
c.1195A>C (p.Asn399His)
c.1171A>C (p.Asn391His)
c.1237A>C (p.Asn413His)
c.754A>C (p.Asn252His)
c.778A>C (p.Asn260His)
5g.162153138A>GCA362183267GABRG2c.1199A>G
c.1294A>G (p.Asn432Asp)
c.1257A>G
n.452A>G
c.889A>G (p.Asn297Asp)
c.913A>G (p.Asn305Asp)
c.*3795A>G (n.*3795A>G)
c.1075A>G
c.565A>G (p.Asn189Asp)
c.1174A>G (p.Asn392Asp)
c.1198A>G (p.Asn400Asp)
c.1861A>G (n.1861A>G)
c.*1379A>G (n.*1379A>G)
c.*398A>G (n.*398A>G)
c.1132A>G (p.Asn378Asp)
c.1108A>G (p.Asn370Asp)
n.472A>G
n.6145A>G
c.636A>G
c.1111A>G (p.Asn371Asp)
c.1267A>G (p.Asn423Asp)
c.1318A>G (p.Asn440Asp)
c.*776A>G (n.*776A>G)
c.1295A>G (n.1295A>G)
c.1189A>G (p.Asn397Asp)
c.*32A>G (n.*32A>G)
c.1195A>G (p.Asn399Asp)
c.1171A>G (p.Asn391Asp)
c.1237A>G (p.Asn413Asp)
c.754A>G (p.Asn252Asp)
c.778A>G (p.Asn260Asp)
5g.162153138A>TCA362183269GABRG2c.1199A>T
c.1294A>T (p.Asn432Tyr)
c.1257A>T
n.452A>T
c.889A>T (p.Asn297Tyr)
c.913A>T (p.Asn305Tyr)
c.*3795A>T (n.*3795A>T)
c.1075A>T
c.565A>T (p.Asn189Tyr)
c.1174A>T (p.Asn392Tyr)
c.1198A>T (p.Asn400Tyr)
c.1861A>T (n.1861A>T)
c.*1379A>T (n.*1379A>T)
c.*398A>T (n.*398A>T)
c.1132A>T (p.Asn378Tyr)
c.1108A>T (p.Asn370Tyr)
n.472A>T
n.6145A>T
c.636A>T
c.1111A>T (p.Asn371Tyr)
c.1267A>T (p.Asn423Tyr)
c.1318A>T (p.Asn440Tyr)
c.*776A>T (n.*776A>T)
c.1295A>T (n.1295A>T)
c.1189A>T (p.Asn397Tyr)
c.*32A>T (n.*32A>T)
c.1195A>T (p.Asn399Tyr)
c.1171A>T (p.Asn391Tyr)
c.1237A>T (p.Asn413Tyr)
c.754A>T (p.Asn252Tyr)
c.778A>T (p.Asn260Tyr)
5g.162153139A>CCA362183274GABRG2c.1200A>C
c.1295A>C (p.Asn432Thr)
c.1258A>C
n.453A>C
c.890A>C (p.Asn297Thr)
c.914A>C (p.Asn305Thr)
c.*3796A>C (n.*3796A>C)
c.1076A>C
c.566A>C (p.Asn189Thr)
c.1175A>C (p.Asn392Thr)
c.1199A>C (p.Asn400Thr)
c.1862A>C (n.1862A>C)
c.*1380A>C (n.*1380A>C)
c.*399A>C (n.*399A>C)
c.1133A>C (p.Asn378Thr)
c.1109A>C (p.Asn370Thr)
n.473A>C
n.6146A>C
c.637A>C
c.1112A>C (p.Asn371Thr)
c.1268A>C (p.Asn423Thr)
c.1319A>C (p.Asn440Thr)
c.*777A>C (n.*777A>C)
c.1296A>C (n.1296A>C)
c.1190A>C (p.Asn397Thr)
c.*33A>C (n.*33A>C)
c.1196A>C (p.Asn399Thr)
c.1172A>C (p.Asn391Thr)
c.1238A>C (p.Asn413Thr)
c.755A>C (p.Asn252Thr)
c.779A>C (p.Asn260Thr)
5g.162153139A>GCA362183276GABRG2c.1200A>G
c.1295A>G (p.Asn432Ser)
c.1258A>G
n.453A>G
c.890A>G (p.Asn297Ser)
c.914A>G (p.Asn305Ser)
c.*3796A>G (n.*3796A>G)
c.1076A>G
c.566A>G (p.Asn189Ser)
c.1175A>G (p.Asn392Ser)
c.1199A>G (p.Asn400Ser)
c.1862A>G (n.1862A>G)
c.*1380A>G (n.*1380A>G)
c.*399A>G (n.*399A>G)
c.1133A>G (p.Asn378Ser)
c.1109A>G (p.Asn370Ser)
n.473A>G
n.6146A>G
c.637A>G
c.1112A>G (p.Asn371Ser)
c.1268A>G (p.Asn423Ser)
c.1319A>G (p.Asn440Ser)
c.*777A>G (n.*777A>G)
c.1296A>G (n.1296A>G)
c.1190A>G (p.Asn397Ser)
c.*33A>G (n.*33A>G)
c.1196A>G (p.Asn399Ser)
c.1172A>G (p.Asn391Ser)
c.1238A>G (p.Asn413Ser)
c.755A>G (p.Asn252Ser)
c.779A>G (p.Asn260Ser)
5g.162153139A>TCA362183278GABRG2c.1200A>T
c.1295A>T (p.Asn432Ile)
c.1258A>T
n.453A>T
c.890A>T (p.Asn297Ile)
c.914A>T (p.Asn305Ile)
c.*3796A>T (n.*3796A>T)
c.1076A>T
c.566A>T (p.Asn189Ile)
c.1175A>T (p.Asn392Ile)
c.1199A>T (p.Asn400Ile)
c.1862A>T (n.1862A>T)
c.*1380A>T (n.*1380A>T)
c.*399A>T (n.*399A>T)
c.1133A>T (p.Asn378Ile)
c.1109A>T (p.Asn370Ile)
n.473A>T
n.6146A>T
c.637A>T
c.1112A>T (p.Asn371Ile)
c.1268A>T (p.Asn423Ile)
c.1319A>T (p.Asn440Ile)
c.*777A>T (n.*777A>T)
c.1296A>T (n.1296A>T)
c.1190A>T (p.Asn397Ile)
c.*33A>T (n.*33A>T)
c.1196A>T (p.Asn399Ile)
c.1172A>T (p.Asn391Ile)
c.1238A>T (p.Asn413Ile)
c.755A>T (p.Asn252Ile)
c.779A>T (p.Asn260Ile)
5g.162153140T>ACA362183281GABRG2c.1201T>A
c.1296T>A (p.Asn432Lys)
c.1259T>A
n.454T>A
c.891T>A (p.Asn297Lys)
c.915T>A (p.Asn305Lys)
c.*3797T>A (n.*3797T>A)
c.1077T>A
c.567T>A (p.Asn189Lys)
c.1176T>A (p.Asn392Lys)
c.1200T>A (p.Asn400Lys)
c.1863T>A (n.1863T>A)
c.*1381T>A (n.*1381T>A)
c.*400T>A (n.*400T>A)
c.1134T>A (p.Asn378Lys)
c.1110T>A (p.Asn370Lys)
n.474T>A
n.6147T>A
c.638T>A
c.1113T>A (p.Asn371Lys)
c.1269T>A (p.Asn423Lys)
c.1320T>A (p.Asn440Lys)
c.*778T>A (n.*778T>A)
c.1297T>A (n.1297T>A)
c.1191T>A (p.Asn397Lys)
c.*34T>A (n.*34T>A)
c.1197T>A (p.Asn399Lys)
c.1173T>A (p.Asn391Lys)
c.1239T>A (p.Asn413Lys)
c.756T>A (p.Asn252Lys)
c.780T>A (p.Asn260Lys)
5g.162153140T>CCA447691691GABRG2c.1201T>C
c.1296T>C (p.Asn432=)
c.1259T>C
n.454T>C
c.891T>C (p.Asn297=)
c.915T>C (p.Asn305=)
c.*3797T>C (n.*3797T>C)
c.1077T>C
c.567T>C (p.Asn189=)
c.1176T>C (p.Asn392=)
c.1200T>C (p.Asn400=)
c.1863T>C (n.1863T>C)
c.*1381T>C (n.*1381T>C)
c.*400T>C (n.*400T>C)
c.1134T>C (p.Asn378=)
c.1110T>C (p.Asn370=)
n.474T>C
n.6147T>C
c.638T>C
c.1113T>C (p.Asn371=)
c.1269T>C (p.Asn423=)
c.1320T>C (p.Asn440=)
c.*778T>C (n.*778T>C)
c.1297T>C (n.1297T>C)
c.1191T>C (p.Asn397=)
c.*34T>C (n.*34T>C)
c.1197T>C (p.Asn399=)
c.1173T>C (p.Asn391=)
c.1239T>C (p.Asn413=)
c.756T>C (p.Asn252=)
c.780T>C (p.Asn260=)
5g.162153140T>GCA362183283GABRG2c.1201T>G
c.1296T>G (p.Asn432Lys)
c.1259T>G
n.454T>G
c.891T>G (p.Asn297Lys)
c.915T>G (p.Asn305Lys)
c.*3797T>G (n.*3797T>G)
c.1077T>G
c.567T>G (p.Asn189Lys)
c.1176T>G (p.Asn392Lys)
c.1200T>G (p.Asn400Lys)
c.1863T>G (n.1863T>G)
c.*1381T>G (n.*1381T>G)
c.*400T>G (n.*400T>G)
c.1134T>G (p.Asn378Lys)
c.1110T>G (p.Asn370Lys)
n.474T>G
n.6147T>G
c.638T>G
c.1113T>G (p.Asn371Lys)
c.1269T>G (p.Asn423Lys)
c.1320T>G (p.Asn440Lys)
c.*778T>G (n.*778T>G)
c.1297T>G (n.1297T>G)
c.1191T>G (p.Asn397Lys)
c.*34T>G (n.*34T>G)
c.1197T>G (p.Asn399Lys)
c.1173T>G (p.Asn391Lys)
c.1239T>G (p.Asn413Lys)
c.756T>G (p.Asn252Lys)
c.780T>G (p.Asn260Lys)
 gnomAD v4
5g.162153141A>CCA362183291GABRG2c.1202A>C
c.1297A>C (p.Asn433His)
c.1260A>C
n.455A>C
c.892A>C (p.Asn298His)
c.916A>C (p.Asn306His)
c.*3798A>C (n.*3798A>C)
c.1078A>C
c.568A>C (p.Asn190His)
c.1177A>C (p.Asn393His)
c.1201A>C (p.Asn401His)
c.1864A>C (n.1864A>C)
c.*1382A>C (n.*1382A>C)
c.*401A>C (n.*401A>C)
c.1135A>C (p.Asn379His)
c.1111A>C (p.Asn371His)
n.475A>C
n.6148A>C
c.639A>C
c.1114A>C (p.Asn372His)
c.1270A>C (p.Asn424His)
c.1321A>C (p.Asn441His)
c.*779A>C (n.*779A>C)
c.1298A>C (n.1298A>C)
c.1192A>C (p.Asn398His)
c.*35A>C (n.*35A>C)
c.1198A>C (p.Asn400His)
c.1174A>C (p.Asn392His)
c.1240A>C (p.Asn414His)
c.757A>C (p.Asn253His)
c.781A>C (p.Asn261His)
5g.162153141A>GCA362183287GABRG2c.1202A>G
c.1297A>G (p.Asn433Asp)
c.1260A>G
n.455A>G
c.892A>G (p.Asn298Asp)
c.916A>G (p.Asn306Asp)
c.*3798A>G (n.*3798A>G)
c.1078A>G
c.568A>G (p.Asn190Asp)
c.1177A>G (p.Asn393Asp)
c.1201A>G (p.Asn401Asp)
c.1864A>G (n.1864A>G)
c.*1382A>G (n.*1382A>G)
c.*401A>G (n.*401A>G)
c.1135A>G (p.Asn379Asp)
c.1111A>G (p.Asn371Asp)
n.475A>G
n.6148A>G
c.639A>G
c.1114A>G (p.Asn372Asp)
c.1270A>G (p.Asn424Asp)
c.1321A>G (p.Asn441Asp)
c.*779A>G (n.*779A>G)
c.1298A>G (n.1298A>G)
c.1192A>G (p.Asn398Asp)
c.*35A>G (n.*35A>G)
c.1198A>G (p.Asn400Asp)
c.1174A>G (p.Asn392Asp)
c.1240A>G (p.Asn414Asp)
c.757A>G (p.Asn253Asp)
c.781A>G (p.Asn261Asp)
5g.162153141A>TCA362183289GABRG2c.1202A>T
c.1297A>T (p.Asn433Tyr)
c.1260A>T
n.455A>T
c.892A>T (p.Asn298Tyr)
c.916A>T (p.Asn306Tyr)
c.*3798A>T (n.*3798A>T)
c.1078A>T
c.568A>T (p.Asn190Tyr)
c.1177A>T (p.Asn393Tyr)
c.1201A>T (p.Asn401Tyr)
c.1864A>T (n.1864A>T)
c.*1382A>T (n.*1382A>T)
c.*401A>T (n.*401A>T)
c.1135A>T (p.Asn379Tyr)
c.1111A>T (p.Asn371Tyr)
n.475A>T
n.6148A>T
c.639A>T
c.1114A>T (p.Asn372Tyr)
c.1270A>T (p.Asn424Tyr)
c.1321A>T (p.Asn441Tyr)
c.*779A>T (n.*779A>T)
c.1298A>T (n.1298A>T)
c.1192A>T (p.Asn398Tyr)
c.*35A>T (n.*35A>T)
c.1198A>T (p.Asn400Tyr)
c.1174A>T (p.Asn392Tyr)
c.1240A>T (p.Asn414Tyr)
c.757A>T (p.Asn253Tyr)
c.781A>T (p.Asn261Tyr)
5g.162153142dupCA2740094178GABRG2c.1203dup
c.1298dup (p.Asn433LysfsTer10)
c.1261dup
n.456dup
c.893dup (p.Asn298LysfsTer10)
c.917dup (p.Asn306LysfsTer10)
c.*3799dup (n.*3799dup)
c.1079dup
c.569dup (p.Asn190LysfsTer10)
c.1178dup (p.Asn393LysfsTer10)
c.1202dup (p.Asn401LysfsTer10)
c.1865dup (n.1865dup)
c.*1383dup (n.*1383dup)
c.*402dup (n.*402dup)
c.1136dup (p.Asn379LysfsTer10)
c.1112dup (p.Asn371LysfsTer10)
n.476dup
n.6149dup
c.640dup
c.1115dup (p.Asn372LysfsTer10)
c.1271dup (p.Asn424LysfsTer10)
c.1322dup (p.Asn441LysfsTer10)
c.*780dup (n.*780dup)
c.1299dup (n.1299dup)
c.1193dup (p.Asn398LysfsTer10)
c.*36dup (n.*36dup)
c.1199dup (p.Asn400LysfsTer10)
c.1175dup (p.Asn392LysfsTer10)
c.1241dup (p.Asn414LysfsTer10)
c.758dup (p.Asn253LysfsTer10)
c.782dup (p.Asn261LysfsTer10)
 ClinVar
5g.162153142A=CA1596381986GABRG2c.1203A=
c.1298A= (p.Asn433=)
c.1261A=
n.456A=
c.893A= (p.Asn298=)
c.917A= (p.Asn306=)
c.*3799A= (n.*3799A=)
c.1079A=
c.569A= (p.Asn190=)
c.1178A= (p.Asn393=)
c.1202A= (p.Asn401=)
c.1865A= (n.1865A=)
c.*1383A= (n.*1383A=)
c.*402A= (n.*402A=)
c.1136A= (p.Asn379=)
c.1112A= (p.Asn371=)
n.476A=
n.6149A=
c.640A=
c.1115A= (p.Asn372=)
c.1271A= (p.Asn424=)
c.1322A= (p.Asn441=)
c.*780A= (n.*780A=)
c.1299A= (n.1299A=)
c.1193A= (p.Asn398=)
c.*36A= (n.*36A=)
c.1199A= (p.Asn400=)
c.1175A= (p.Asn392=)
c.1241A= (p.Asn414=)
c.758A= (p.Asn253=)
c.782A= (p.Asn261=)
5g.162153142A>CCA362183294GABRG2c.1203A>C
c.1298A>C (p.Asn433Thr)
c.1261A>C
n.456A>C
c.893A>C (p.Asn298Thr)
c.917A>C (p.Asn306Thr)
c.*3799A>C (n.*3799A>C)
c.1079A>C
c.569A>C (p.Asn190Thr)
c.1178A>C (p.Asn393Thr)
c.1202A>C (p.Asn401Thr)
c.1865A>C (n.1865A>C)
c.*1383A>C (n.*1383A>C)
c.*402A>C (n.*402A>C)
c.1136A>C (p.Asn379Thr)
c.1112A>C (p.Asn371Thr)
n.476A>C
n.6149A>C
c.640A>C
c.1115A>C (p.Asn372Thr)
c.1271A>C (p.Asn424Thr)
c.1322A>C (p.Asn441Thr)
c.*780A>C (n.*780A>C)
c.1299A>C (n.1299A>C)
c.1193A>C (p.Asn398Thr)
c.*36A>C (n.*36A>C)
c.1199A>C (p.Asn400Thr)
c.1175A>C (p.Asn392Thr)
c.1241A>C (p.Asn414Thr)
c.758A>C (p.Asn253Thr)
c.782A>C (p.Asn261Thr)
5g.162153142A>GCA362183297GABRG2c.1203A>G
c.1298A>G (p.Asn433Ser)
c.1261A>G
n.456A>G
c.893A>G (p.Asn298Ser)
c.917A>G (p.Asn306Ser)
c.*3799A>G (n.*3799A>G)
c.1079A>G
c.569A>G (p.Asn190Ser)
c.1178A>G (p.Asn393Ser)
c.1202A>G (p.Asn401Ser)
c.1865A>G (n.1865A>G)
c.*1383A>G (n.*1383A>G)
c.*402A>G (n.*402A>G)
c.1136A>G (p.Asn379Ser)
c.1112A>G (p.Asn371Ser)
n.476A>G
n.6149A>G
c.640A>G
c.1115A>G (p.Asn372Ser)
c.1271A>G (p.Asn424Ser)
c.1322A>G (p.Asn441Ser)
c.*780A>G (n.*780A>G)
c.1299A>G (n.1299A>G)
c.1193A>G (p.Asn398Ser)
c.*36A>G (n.*36A>G)
c.1199A>G (p.Asn400Ser)
c.1175A>G (p.Asn392Ser)
c.1241A>G (p.Asn414Ser)
c.758A>G (p.Asn253Ser)
c.782A>G (p.Asn261Ser)
5g.162153142A>TCA3544976GABRG2c.1203A>T
c.1298A>T (p.Asn433Ile)
c.1261A>T
n.456A>T
c.893A>T (p.Asn298Ile)
c.917A>T (p.Asn306Ile)
c.*3799A>T (n.*3799A>T)
c.1079A>T
c.569A>T (p.Asn190Ile)
c.1178A>T (p.Asn393Ile)
c.1202A>T (p.Asn401Ile)
c.1865A>T (n.1865A>T)
c.*1383A>T (n.*1383A>T)
c.*402A>T (n.*402A>T)
c.1136A>T (p.Asn379Ile)
c.1112A>T (p.Asn371Ile)
n.476A>T
n.6149A>T
c.640A>T
c.1115A>T (p.Asn372Ile)
c.1271A>T (p.Asn424Ile)
c.1322A>T (p.Asn441Ile)
c.*780A>T (n.*780A>T)
c.1299A>T (n.1299A>T)
c.1193A>T (p.Asn398Ile)
c.*36A>T (n.*36A>T)
c.1199A>T (p.Asn400Ile)
c.1175A>T (p.Asn392Ile)
c.1241A>T (p.Asn414Ile)
c.758A>T (p.Asn253Ile)
c.782A>T (p.Asn261Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.162153143T>ACA362183302GABRG2c.1204T>A
c.1299T>A (p.Asn433Lys)
c.1262T>A
n.457T>A
c.894T>A (p.Asn298Lys)
c.918T>A (p.Asn306Lys)
c.*3800T>A (n.*3800T>A)
c.1080T>A
c.570T>A (p.Asn190Lys)
c.1179T>A (p.Asn393Lys)
c.1203T>A (p.Asn401Lys)
c.1866T>A (n.1866T>A)
c.*1384T>A (n.*1384T>A)
c.*403T>A (n.*403T>A)
c.1137T>A (p.Asn379Lys)
c.1113T>A (p.Asn371Lys)
n.477T>A
n.6150T>A
c.641T>A
c.1116T>A (p.Asn372Lys)
c.1272T>A (p.Asn424Lys)
c.1323T>A (p.Asn441Lys)
c.*781T>A (n.*781T>A)
c.1300T>A (n.1300T>A)
c.1194T>A (p.Asn398Lys)
c.*37T>A (n.*37T>A)
c.1200T>A (p.Asn400Lys)
c.1176T>A (p.Asn392Lys)
c.1242T>A (p.Asn414Lys)
c.759T>A (p.Asn253Lys)
c.783T>A (p.Asn261Lys)
5g.162153143T>CCA447691696GABRG2c.1204T>C
c.1299T>C (p.Asn433=)
c.1262T>C
n.457T>C
c.894T>C (p.Asn298=)
c.918T>C (p.Asn306=)
c.*3800T>C (n.*3800T>C)
c.1080T>C
c.570T>C (p.Asn190=)
c.1179T>C (p.Asn393=)
c.1203T>C (p.Asn401=)
c.1866T>C (n.1866T>C)
c.*1384T>C (n.*1384T>C)
c.*403T>C (n.*403T>C)
c.1137T>C (p.Asn379=)
c.1113T>C (p.Asn371=)
n.477T>C
n.6150T>C
c.641T>C
c.1116T>C (p.Asn372=)
c.1272T>C (p.Asn424=)
c.1323T>C (p.Asn441=)
c.*781T>C (n.*781T>C)
c.1300T>C (n.1300T>C)
c.1194T>C (p.Asn398=)
c.*37T>C (n.*37T>C)
c.1200T>C (p.Asn400=)
c.1176T>C (p.Asn392=)
c.1242T>C (p.Asn414=)
c.759T>C (p.Asn253=)
c.783T>C (p.Asn261=)
 ClinVar dbSNP gnomAD v4
5g.162153143T>GCA362183304GABRG2c.1204T>G
c.1299T>G (p.Asn433Lys)
c.1262T>G
n.457T>G
c.894T>G (p.Asn298Lys)
c.918T>G (p.Asn306Lys)
c.*3800T>G (n.*3800T>G)
c.1080T>G
c.570T>G (p.Asn190Lys)
c.1179T>G (p.Asn393Lys)
c.1203T>G (p.Asn401Lys)
c.1866T>G (n.1866T>G)
c.*1384T>G (n.*1384T>G)
c.*403T>G (n.*403T>G)
c.1137T>G (p.Asn379Lys)
c.1113T>G (p.Asn371Lys)
n.477T>G
n.6150T>G
c.641T>G
c.1116T>G (p.Asn372Lys)
c.1272T>G (p.Asn424Lys)
c.1323T>G (p.Asn441Lys)
c.*781T>G (n.*781T>G)
c.1300T>G (n.1300T>G)
c.1194T>G (p.Asn398Lys)
c.*37T>G (n.*37T>G)
c.1200T>G (p.Asn400Lys)
c.1176T>G (p.Asn392Lys)
c.1242T>G (p.Asn414Lys)
c.759T>G (p.Asn253Lys)
c.783T>G (p.Asn261Lys)
5g.162153143T=CA1596381987GABRG2c.1204T=
c.1299T= (p.Asn433=)
c.1262T=
n.457T=
c.894T= (p.Asn298=)
c.918T= (p.Asn306=)
c.*3800T= (n.*3800T=)
c.1080T=
c.570T= (p.Asn190=)
c.1179T= (p.Asn393=)
c.1203T= (p.Asn401=)
c.1866T= (n.1866T=)
c.*1384T= (n.*1384T=)
c.*403T= (n.*403T=)
c.1137T= (p.Asn379=)
c.1113T= (p.Asn371=)
n.477T=
n.6150T=
c.641T=
c.1116T= (p.Asn372=)
c.1272T= (p.Asn424=)
c.1323T= (p.Asn441=)
c.*781T= (n.*781T=)
c.1300T= (n.1300T=)
c.1194T= (p.Asn398=)
c.*37T= (n.*37T=)
c.1200T= (p.Asn400=)
c.1176T= (p.Asn392=)
c.1242T= (p.Asn414=)
c.759T= (p.Asn253=)
c.783T= (p.Asn261=)
5g.162153144G>ACA3544977GABRG2c.1205G>A
c.1300G>A (p.Ala434Thr)
c.1263G>A
n.458G>A
c.895G>A (p.Ala299Thr)
c.919G>A (p.Ala307Thr)
c.*3801G>A (n.*3801G>A)
c.1081G>A
c.571G>A (p.Ala191Thr)
c.1180G>A (p.Ala394Thr)
c.1204G>A (p.Ala402Thr)
c.1867G>A (n.1867G>A)
c.*1385G>A (n.*1385G>A)
c.*404G>A (n.*404G>A)
c.1138G>A (p.Ala380Thr)
c.1114G>A (p.Ala372Thr)
n.478G>A
n.6151G>A
c.642G>A
c.1117G>A (p.Ala373Thr)
c.1273G>A (p.Ala425Thr)
c.1324G>A (p.Ala442Thr)
c.*782G>A (n.*782G>A)
c.1301G>A (n.1301G>A)
c.1195G>A (p.Ala399Thr)
c.*38G>A (n.*38G>A)
c.1201G>A (p.Ala401Thr)
c.1177G>A (p.Ala393Thr)
c.1243G>A (p.Ala415Thr)
c.760G>A (p.Ala254Thr)
c.784G>A (p.Ala262Thr)
 ClinVar dbSNP ExAC gnomAD v3 gnomAD v4
5g.162153144G>CCA362183309GABRG2c.1205G>C
c.1300G>C (p.Ala434Pro)
c.1263G>C
n.458G>C
c.895G>C (p.Ala299Pro)
c.919G>C (p.Ala307Pro)
c.*3801G>C (n.*3801G>C)
c.1081G>C
c.571G>C (p.Ala191Pro)
c.1180G>C (p.Ala394Pro)
c.1204G>C (p.Ala402Pro)
c.1867G>C (n.1867G>C)
c.*1385G>C (n.*1385G>C)
c.*404G>C (n.*404G>C)
c.1138G>C (p.Ala380Pro)
c.1114G>C (p.Ala372Pro)
n.478G>C
n.6151G>C
c.642G>C
c.1117G>C (p.Ala373Pro)
c.1273G>C (p.Ala425Pro)
c.1324G>C (p.Ala442Pro)
c.*782G>C (n.*782G>C)
c.1301G>C (n.1301G>C)
c.1195G>C (p.Ala399Pro)
c.*38G>C (n.*38G>C)
c.1201G>C (p.Ala401Pro)
c.1177G>C (p.Ala393Pro)
c.1243G>C (p.Ala415Pro)
c.760G>C (p.Ala254Pro)
c.784G>C (p.Ala262Pro)
5g.162153144G=CA1596381990GABRG2c.1205G=
c.1300G= (p.Ala434=)
c.1263G=
n.458G=
c.895G= (p.Ala299=)
c.919G= (p.Ala307=)
c.*3801G= (n.*3801G=)
c.1081G=
c.571G= (p.Ala191=)
c.1180G= (p.Ala394=)
c.1204G= (p.Ala402=)
c.1867G= (n.1867G=)
c.*1385G= (n.*1385G=)
c.*404G= (n.*404G=)
c.1138G= (p.Ala380=)
c.1114G= (p.Ala372=)
n.478G=
n.6151G=
c.642G=
c.1117G= (p.Ala373=)
c.1273G= (p.Ala425=)
c.1324G= (p.Ala442=)
c.*782G= (n.*782G=)
c.1301G= (n.1301G=)
c.1195G= (p.Ala399=)
c.*38G= (n.*38G=)
c.1201G= (p.Ala401=)
c.1177G= (p.Ala393=)
c.1243G= (p.Ala415=)
c.760G= (p.Ala254=)
c.784G= (p.Ala262=)
5g.162153144G>TCA3544978GABRG2c.1205G>T
c.1300G>T (p.Ala434Ser)
c.1263G>T
n.458G>T
c.895G>T (p.Ala299Ser)
c.919G>T (p.Ala307Ser)
c.*3801G>T (n.*3801G>T)
c.1081G>T
c.571G>T (p.Ala191Ser)
c.1180G>T (p.Ala394Ser)
c.1204G>T (p.Ala402Ser)
c.1867G>T (n.1867G>T)
c.*1385G>T (n.*1385G>T)
c.*404G>T (n.*404G>T)
c.1138G>T (p.Ala380Ser)
c.1114G>T (p.Ala372Ser)
n.478G>T
n.6151G>T
c.642G>T
c.1117G>T (p.Ala373Ser)
c.1273G>T (p.Ala425Ser)
c.1324G>T (p.Ala442Ser)
c.*782G>T (n.*782G>T)
c.1301G>T (n.1301G>T)
c.1195G>T (p.Ala399Ser)
c.*38G>T (n.*38G>T)
c.1201G>T (p.Ala401Ser)
c.1177G>T (p.Ala393Ser)
c.1243G>T (p.Ala415Ser)
c.760G>T (p.Ala254Ser)
c.784G>T (p.Ala262Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.162153145C>ACA362183312GABRG2c.1206C>A
c.1301C>A (p.Ala434Asp)
c.1264C>A
n.459C>A
c.896C>A (p.Ala299Asp)
c.920C>A (p.Ala307Asp)
c.*3802C>A (n.*3802C>A)
c.1082C>A
c.572C>A (p.Ala191Asp)
c.1181C>A (p.Ala394Asp)
c.1205C>A (p.Ala402Asp)
c.1868C>A (n.1868C>A)
c.*1386C>A (n.*1386C>A)
c.*405C>A (n.*405C>A)
c.1139C>A (p.Ala380Asp)
c.1115C>A (p.Ala372Asp)
n.479C>A
n.6152C>A
c.643C>A
c.1118C>A (p.Ala373Asp)
c.1274C>A (p.Ala425Asp)
c.1325C>A (p.Ala442Asp)
c.*783C>A (n.*783C>A)
c.1302C>A (n.1302C>A)
c.1196C>A (p.Ala399Asp)
c.*39C>A (n.*39C>A)
c.1202C>A (p.Ala401Asp)
c.1178C>A (p.Ala393Asp)
c.1244C>A (p.Ala415Asp)
c.761C>A (p.Ala254Asp)
c.785C>A (p.Ala262Asp)
 COSMIC
5g.162153145C>GCA362183314GABRG2c.1206C>G
c.1301C>G (p.Ala434Gly)
c.1264C>G
n.459C>G
c.896C>G (p.Ala299Gly)
c.920C>G (p.Ala307Gly)
c.*3802C>G (n.*3802C>G)
c.1082C>G
c.572C>G (p.Ala191Gly)
c.1181C>G (p.Ala394Gly)
c.1205C>G (p.Ala402Gly)
c.1868C>G (n.1868C>G)
c.*1386C>G (n.*1386C>G)
c.*405C>G (n.*405C>G)
c.1139C>G (p.Ala380Gly)
c.1115C>G (p.Ala372Gly)
n.479C>G
n.6152C>G
c.643C>G
c.1118C>G (p.Ala373Gly)
c.1274C>G (p.Ala425Gly)
c.1325C>G (p.Ala442Gly)
c.*783C>G (n.*783C>G)
c.1302C>G (n.1302C>G)
c.1196C>G (p.Ala399Gly)
c.*39C>G (n.*39C>G)
c.1202C>G (p.Ala401Gly)
c.1178C>G (p.Ala393Gly)
c.1244C>G (p.Ala415Gly)
c.761C>G (p.Ala254Gly)
c.785C>G (p.Ala262Gly)
5g.162153145C>TCA362183316GABRG2c.1206C>T
c.1301C>T (p.Ala434Val)
c.1264C>T
n.459C>T
c.896C>T (p.Ala299Val)
c.920C>T (p.Ala307Val)
c.*3802C>T (n.*3802C>T)
c.1082C>T
c.572C>T (p.Ala191Val)
c.1181C>T (p.Ala394Val)
c.1205C>T (p.Ala402Val)
c.1868C>T (n.1868C>T)
c.*1386C>T (n.*1386C>T)
c.*405C>T (n.*405C>T)
c.1139C>T (p.Ala380Val)
c.1115C>T (p.Ala372Val)
n.479C>T
n.6152C>T
c.643C>T
c.1118C>T (p.Ala373Val)
c.1274C>T (p.Ala425Val)
c.1325C>T (p.Ala442Val)
c.*783C>T (n.*783C>T)
c.1302C>T (n.1302C>T)
c.1196C>T (p.Ala399Val)
c.*39C>T (n.*39C>T)
c.1202C>T (p.Ala401Val)
c.1178C>T (p.Ala393Val)
c.1244C>T (p.Ala415Val)
c.761C>T (p.Ala254Val)
c.785C>T (p.Ala262Val)
5g.162153146T>ACA447691700GABRG2c.1207T>A
c.1302T>A (p.Ala434=)
c.1265T>A
n.460T>A
c.897T>A (p.Ala299=)
c.921T>A (p.Ala307=)
c.*3803T>A (n.*3803T>A)
c.1083T>A
c.573T>A (p.Ala191=)
c.1182T>A (p.Ala394=)
c.1206T>A (p.Ala402=)
c.1869T>A (n.1869T>A)
c.*1387T>A (n.*1387T>A)
c.*406T>A (n.*406T>A)
c.1140T>A (p.Ala380=)
c.1116T>A (p.Ala372=)
n.480T>A
n.6153T>A
c.644T>A
c.1119T>A (p.Ala373=)
c.1275T>A (p.Ala425=)
c.1326T>A (p.Ala442=)
c.*784T>A (n.*784T>A)
c.1303T>A (n.1303T>A)
c.1197T>A (p.Ala399=)
c.*40T>A (n.*40T>A)
c.1203T>A (p.Ala401=)
c.1179T>A (p.Ala393=)
c.1245T>A (p.Ala415=)
c.762T>A (p.Ala254=)
c.786T>A (p.Ala262=)
5g.162153146T>CCA447691701GABRG2c.1207T>C
c.1302T>C (p.Ala434=)
c.1265T>C
n.460T>C
c.897T>C (p.Ala299=)
c.921T>C (p.Ala307=)
c.*3803T>C (n.*3803T>C)
c.1083T>C
c.573T>C (p.Ala191=)
c.1182T>C (p.Ala394=)
c.1206T>C (p.Ala402=)
c.1869T>C (n.1869T>C)
c.*1387T>C (n.*1387T>C)
c.*406T>C (n.*406T>C)
c.1140T>C (p.Ala380=)
c.1116T>C (p.Ala372=)
n.480T>C
n.6153T>C
c.644T>C
c.1119T>C (p.Ala373=)
c.1275T>C (p.Ala425=)
c.1326T>C (p.Ala442=)
c.*784T>C (n.*784T>C)
c.1303T>C (n.1303T>C)
c.1197T>C (p.Ala399=)
c.*40T>C (n.*40T>C)
c.1203T>C (p.Ala401=)
c.1179T>C (p.Ala393=)
c.1245T>C (p.Ala415=)
c.762T>C (p.Ala254=)
c.786T>C (p.Ala262=)
 dbSNP gnomAD v3 gnomAD v4
5g.162153146T>GCA447691702GABRG2c.1207T>G
c.1302T>G (p.Ala434=)
c.1265T>G
n.460T>G
c.897T>G (p.Ala299=)
c.921T>G (p.Ala307=)
c.*3803T>G (n.*3803T>G)
c.1083T>G
c.573T>G (p.Ala191=)
c.1182T>G (p.Ala394=)
c.1206T>G (p.Ala402=)
c.1869T>G (n.1869T>G)
c.*1387T>G (n.*1387T>G)
c.*406T>G (n.*406T>G)
c.1140T>G (p.Ala380=)
c.1116T>G (p.Ala372=)
n.480T>G
n.6153T>G
c.644T>G
c.1119T>G (p.Ala373=)
c.1275T>G (p.Ala425=)
c.1326T>G (p.Ala442=)
c.*784T>G (n.*784T>G)
c.1303T>G (n.1303T>G)
c.1197T>G (p.Ala399=)
c.*40T>G (n.*40T>G)
c.1203T>G (p.Ala401=)
c.1179T>G (p.Ala393=)
c.1245T>G (p.Ala415=)
c.762T>G (p.Ala254=)
c.786T>G (p.Ala262=)
5g.162153146T=CA1596381993GABRG2c.1207T=
c.1302T= (p.Ala434=)
c.1265T=
n.460T=
c.897T= (p.Ala299=)
c.921T= (p.Ala307=)
c.*3803T= (n.*3803T=)
c.1083T=
c.573T= (p.Ala191=)
c.1182T= (p.Ala394=)
c.1206T= (p.Ala402=)
c.1869T= (n.1869T=)
c.*1387T= (n.*1387T=)
c.*406T= (n.*406T=)
c.1140T= (p.Ala380=)
c.1116T= (p.Ala372=)
n.480T=
n.6153T=
c.644T=
c.1119T= (p.Ala373=)
c.1275T= (p.Ala425=)
c.1326T= (p.Ala442=)
c.*784T= (n.*784T=)
c.1303T= (n.1303T=)
c.1197T= (p.Ala399=)
c.*40T= (n.*40T=)
c.1203T= (p.Ala401=)
c.1179T= (p.Ala393=)
c.1245T= (p.Ala415=)
c.762T= (p.Ala254=)
c.786T= (p.Ala262=)
5g.162153147A=CA1596381995GABRG2c.1208A=
c.1303A= (p.Thr435=)
c.1266A=
n.461A=
c.898A= (p.Thr300=)
c.922A= (p.Thr308=)
c.*3804A= (n.*3804A=)
c.1084A=
c.574A= (p.Thr192=)
c.1183A= (p.Thr395=)
c.1207A= (p.Thr403=)
c.1870A= (n.1870A=)
c.*1388A= (n.*1388A=)
c.*407A= (n.*407A=)
c.1141A= (p.Thr381=)
c.1117A= (p.Thr373=)
n.481A=
n.6154A=
c.645A=
c.1120A= (p.Thr374=)
c.1276A= (p.Thr426=)
c.1327A= (p.Thr443=)
c.*785A= (n.*785A=)
c.1304A= (n.1304A=)
c.1198A= (p.Thr400=)
c.*41A= (n.*41A=)
c.1204A= (p.Thr402=)
c.1180A= (p.Thr394=)
c.1246A= (p.Thr416=)
c.763A= (p.Thr255=)
c.787A= (p.Thr263=)
5g.162153147A>CCA362183318GABRG2c.1208A>C
c.1303A>C (p.Thr435Pro)
c.1266A>C
n.461A>C
c.898A>C (p.Thr300Pro)
c.922A>C (p.Thr308Pro)
c.*3804A>C (n.*3804A>C)
c.1084A>C
c.574A>C (p.Thr192Pro)
c.1183A>C (p.Thr395Pro)
c.1207A>C (p.Thr403Pro)
c.1870A>C (n.1870A>C)
c.*1388A>C (n.*1388A>C)
c.*407A>C (n.*407A>C)
c.1141A>C (p.Thr381Pro)
c.1117A>C (p.Thr373Pro)
n.481A>C
n.6154A>C
c.645A>C
c.1120A>C (p.Thr374Pro)
c.1276A>C (p.Thr426Pro)
c.1327A>C (p.Thr443Pro)
c.*785A>C (n.*785A>C)
c.1304A>C (n.1304A>C)
c.1198A>C (p.Thr400Pro)
c.*41A>C (n.*41A>C)
c.1204A>C (p.Thr402Pro)
c.1180A>C (p.Thr394Pro)
c.1246A>C (p.Thr416Pro)
c.763A>C (p.Thr255Pro)
c.787A>C (p.Thr263Pro)
5g.162153147A>GCA3544979GABRG2c.1208A>G
c.1303A>G (p.Thr435Ala)
c.1266A>G
n.461A>G
c.898A>G (p.Thr300Ala)
c.922A>G (p.Thr308Ala)
c.*3804A>G (n.*3804A>G)
c.1084A>G
c.574A>G (p.Thr192Ala)
c.1183A>G (p.Thr395Ala)
c.1207A>G (p.Thr403Ala)
c.1870A>G (n.1870A>G)
c.*1388A>G (n.*1388A>G)
c.*407A>G (n.*407A>G)
c.1141A>G (p.Thr381Ala)
c.1117A>G (p.Thr373Ala)
n.481A>G
n.6154A>G
c.645A>G
c.1120A>G (p.Thr374Ala)
c.1276A>G (p.Thr426Ala)
c.1327A>G (p.Thr443Ala)
c.*785A>G (n.*785A>G)
c.1304A>G (n.1304A>G)
c.1198A>G (p.Thr400Ala)
c.*41A>G (n.*41A>G)
c.1204A>G (p.Thr402Ala)
c.1180A>G (p.Thr394Ala)
c.1246A>G (p.Thr416Ala)
c.763A>G (p.Thr255Ala)
c.787A>G (p.Thr263Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.162153147A>TCA362183322GABRG2c.1208A>T
c.1303A>T (p.Thr435Ser)
c.1266A>T
n.461A>T
c.898A>T (p.Thr300Ser)
c.922A>T (p.Thr308Ser)
c.*3804A>T (n.*3804A>T)
c.1084A>T
c.574A>T (p.Thr192Ser)
c.1183A>T (p.Thr395Ser)
c.1207A>T (p.Thr403Ser)
c.1870A>T (n.1870A>T)
c.*1388A>T (n.*1388A>T)
c.*407A>T (n.*407A>T)
c.1141A>T (p.Thr381Ser)
c.1117A>T (p.Thr373Ser)
n.481A>T
n.6154A>T
c.645A>T
c.1120A>T (p.Thr374Ser)
c.1276A>T (p.Thr426Ser)
c.1327A>T (p.Thr443Ser)
c.*785A>T (n.*785A>T)
c.1304A>T (n.1304A>T)
c.1198A>T (p.Thr400Ser)
c.*41A>T (n.*41A>T)
c.1204A>T (p.Thr402Ser)
c.1180A>T (p.Thr394Ser)
c.1246A>T (p.Thr416Ser)
c.763A>T (p.Thr255Ser)
c.787A>T (p.Thr263Ser)
5g.162153148C>ACA362183330GABRG2c.1209C>A
c.1304C>A (p.Thr435Lys)
c.1267C>A
n.462C>A
c.899C>A (p.Thr300Lys)
c.923C>A (p.Thr308Lys)
c.*3805C>A (n.*3805C>A)
c.1085C>A
c.575C>A (p.Thr192Lys)
c.1184C>A (p.Thr395Lys)
c.1208C>A (p.Thr403Lys)
c.1871C>A (n.1871C>A)
c.*1389C>A (n.*1389C>A)
c.*408C>A (n.*408C>A)
c.1142C>A (p.Thr381Lys)
c.1118C>A (p.Thr373Lys)
n.482C>A
n.6155C>A
c.646C>A
c.1121C>A (p.Thr374Lys)
c.1277C>A (p.Thr426Lys)
c.1328C>A (p.Thr443Lys)
c.*786C>A (n.*786C>A)
c.1305C>A (n.1305C>A)
c.1199C>A (p.Thr400Lys)
c.*42C>A (n.*42C>A)
c.1205C>A (p.Thr402Lys)
c.1181C>A (p.Thr394Lys)
c.1247C>A (p.Thr416Lys)
c.764C>A (p.Thr255Lys)
c.788C>A (p.Thr263Lys)
5g.162153148C=CA1596381998GABRG2c.1209C=
c.1304C= (p.Thr435=)
c.1267C=
n.462C=
c.899C= (p.Thr300=)
c.923C= (p.Thr308=)
c.*3805C= (n.*3805C=)
c.1085C=
c.575C= (p.Thr192=)
c.1184C= (p.Thr395=)
c.1208C= (p.Thr403=)
c.1871C= (n.1871C=)
c.*1389C= (n.*1389C=)
c.*408C= (n.*408C=)
c.1142C= (p.Thr381=)
c.1118C= (p.Thr373=)
n.482C=
n.6155C=
c.646C=
c.1121C= (p.Thr374=)
c.1277C= (p.Thr426=)
c.1328C= (p.Thr443=)
c.*786C= (n.*786C=)
c.1305C= (n.1305C=)
c.1199C= (p.Thr400=)
c.*42C= (n.*42C=)
c.1205C= (p.Thr402=)
c.1181C= (p.Thr394=)
c.1247C= (p.Thr416=)
c.764C= (p.Thr255=)
c.788C= (p.Thr263=)
5g.162153148C>GCA362183327GABRG2c.1209C>G
c.1304C>G (p.Thr435Arg)
c.1267C>G
n.462C>G
c.899C>G (p.Thr300Arg)
c.923C>G (p.Thr308Arg)
c.*3805C>G (n.*3805C>G)
c.1085C>G
c.575C>G (p.Thr192Arg)
c.1184C>G (p.Thr395Arg)
c.1208C>G (p.Thr403Arg)
c.1871C>G (n.1871C>G)
c.*1389C>G (n.*1389C>G)
c.*408C>G (n.*408C>G)
c.1142C>G (p.Thr381Arg)
c.1118C>G (p.Thr373Arg)
n.482C>G
n.6155C>G
c.646C>G
c.1121C>G (p.Thr374Arg)
c.1277C>G (p.Thr426Arg)
c.1328C>G (p.Thr443Arg)
c.*786C>G (n.*786C>G)
c.1305C>G (n.1305C>G)
c.1199C>G (p.Thr400Arg)
c.*42C>G (n.*42C>G)
c.1205C>G (p.Thr402Arg)
c.1181C>G (p.Thr394Arg)
c.1247C>G (p.Thr416Arg)
c.764C>G (p.Thr255Arg)
c.788C>G (p.Thr263Arg)
5g.162153148C>TCA362183325GABRG2c.1209C>T
c.1304C>T (p.Thr435Ile)
c.1267C>T
n.462C>T
c.899C>T (p.Thr300Ile)
c.923C>T (p.Thr308Ile)
c.*3805C>T (n.*3805C>T)
c.1085C>T
c.575C>T (p.Thr192Ile)
c.1184C>T (p.Thr395Ile)
c.1208C>T (p.Thr403Ile)
c.1871C>T (n.1871C>T)
c.*1389C>T (n.*1389C>T)
c.*408C>T (n.*408C>T)
c.1142C>T (p.Thr381Ile)
c.1118C>T (p.Thr373Ile)
n.482C>T
n.6155C>T
c.646C>T
c.1121C>T (p.Thr374Ile)
c.1277C>T (p.Thr426Ile)
c.1328C>T (p.Thr443Ile)
c.*786C>T (n.*786C>T)
c.1305C>T (n.1305C>T)
c.1199C>T (p.Thr400Ile)
c.*42C>T (n.*42C>T)
c.1205C>T (p.Thr402Ile)
c.1181C>T (p.Thr394Ile)
c.1247C>T (p.Thr416Ile)
c.764C>T (p.Thr255Ile)
c.788C>T (p.Thr263Ile)
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.162153149A>CCA447691706GABRG2c.1210A>C
c.1305A>C (p.Thr435=)
c.1268A>C
n.463A>C
c.900A>C (p.Thr300=)
c.924A>C (p.Thr308=)
c.*3806A>C (n.*3806A>C)
c.1086A>C
c.576A>C (p.Thr192=)
c.1185A>C (p.Thr395=)
c.1209A>C (p.Thr403=)
c.1872A>C (n.1872A>C)
c.*1390A>C (n.*1390A>C)
c.*409A>C (n.*409A>C)
c.1143A>C (p.Thr381=)
c.1119A>C (p.Thr373=)
n.483A>C
n.6156A>C
c.647A>C
c.1122A>C (p.Thr374=)
c.1278A>C (p.Thr426=)
c.1329A>C (p.Thr443=)
c.*787A>C (n.*787A>C)
c.1306A>C (n.1306A>C)
c.1200A>C (p.Thr400=)
c.*43A>C (n.*43A>C)
c.1206A>C (p.Thr402=)
c.1182A>C (p.Thr394=)
c.1248A>C (p.Thr416=)
c.765A>C (p.Thr255=)
c.789A>C (p.Thr263=)
5g.162153149A>GCA447691707GABRG2c.1210A>G
c.1305A>G (p.Thr435=)
c.1268A>G
n.463A>G
c.900A>G (p.Thr300=)
c.924A>G (p.Thr308=)
c.*3806A>G (n.*3806A>G)
c.1086A>G
c.576A>G (p.Thr192=)
c.1185A>G (p.Thr395=)
c.1209A>G (p.Thr403=)
c.1872A>G (n.1872A>G)
c.*1390A>G (n.*1390A>G)
c.*409A>G (n.*409A>G)
c.1143A>G (p.Thr381=)
c.1119A>G (p.Thr373=)
n.483A>G
n.6156A>G
c.647A>G
c.1122A>G (p.Thr374=)
c.1278A>G (p.Thr426=)
c.1329A>G (p.Thr443=)
c.*787A>G (n.*787A>G)
c.1306A>G (n.1306A>G)
c.1200A>G (p.Thr400=)
c.*43A>G (n.*43A>G)
c.1206A>G (p.Thr402=)
c.1182A>G (p.Thr394=)
c.1248A>G (p.Thr416=)
c.765A>G (p.Thr255=)
c.789A>G (p.Thr263=)
5g.162153149A>TCA447691705GABRG2c.1210A>T
c.1305A>T (p.Thr435=)
c.1268A>T
n.463A>T
c.900A>T (p.Thr300=)
c.924A>T (p.Thr308=)
c.*3806A>T (n.*3806A>T)
c.1086A>T
c.576A>T (p.Thr192=)
c.1185A>T (p.Thr395=)
c.1209A>T (p.Thr403=)
c.1872A>T (n.1872A>T)
c.*1390A>T (n.*1390A>T)
c.*409A>T (n.*409A>T)
c.1143A>T (p.Thr381=)
c.1119A>T (p.Thr373=)
n.483A>T
n.6156A>T
c.647A>T
c.1122A>T (p.Thr374=)
c.1278A>T (p.Thr426=)
c.1329A>T (p.Thr443=)
c.*787A>T (n.*787A>T)
c.1306A>T (n.1306A>T)
c.1200A>T (p.Thr400=)
c.*43A>T (n.*43A>T)
c.1206A>T (p.Thr402=)
c.1182A>T (p.Thr394=)
c.1248A>T (p.Thr416=)
c.765A>T (p.Thr255=)
c.789A>T (p.Thr263=)
5g.162153150C>ACA362183332GABRG2c.1211C>A
c.1306C>A (p.His436Asn)
c.1269C>A
n.464C>A
c.901C>A (p.His301Asn)
c.925C>A (p.His309Asn)
c.*3807C>A (n.*3807C>A)
c.1087C>A
c.577C>A (p.His193Asn)
c.1186C>A (p.His396Asn)
c.1210C>A (p.His404Asn)
c.1873C>A (n.1873C>A)
c.*1391C>A (n.*1391C>A)
c.*410C>A (n.*410C>A)
c.1144C>A (p.His382Asn)
c.1120C>A (p.His374Asn)
n.484C>A
n.6157C>A
c.648C>A
c.1123C>A (p.His375Asn)
c.1279C>A (p.His427Asn)
c.1330C>A (p.His444Asn)
c.*788C>A (n.*788C>A)
c.1307C>A (n.1307C>A)
c.1201C>A (p.His401Asn)
c.*44C>A (n.*44C>A)
c.1207C>A (p.His403Asn)
c.1183C>A (p.His395Asn)
c.1249C>A (p.His417Asn)
c.766C>A (p.His256Asn)
c.790C>A (p.His264Asn)
5g.162153150C=CA1596382003GABRG2c.1211C=
c.1306C= (p.His436=)
c.1269C=
n.464C=
c.901C= (p.His301=)
c.925C= (p.His309=)
c.*3807C= (n.*3807C=)
c.1087C=
c.577C= (p.His193=)
c.1186C= (p.His396=)
c.1210C= (p.His404=)
c.1873C= (n.1873C=)
c.*1391C= (n.*1391C=)
c.*410C= (n.*410C=)
c.1144C= (p.His382=)
c.1120C= (p.His374=)
n.484C=
n.6157C=
c.648C=
c.1123C= (p.His375=)
c.1279C= (p.His427=)
c.1330C= (p.His444=)
c.*788C= (n.*788C=)
c.1307C= (n.1307C=)
c.1201C= (p.His401=)
c.*44C= (n.*44C=)
c.1207C= (p.His403=)
c.1183C= (p.His395=)
c.1249C= (p.His417=)
c.766C= (p.His256=)
c.790C= (p.His264=)
5g.162153150C>GCA362183335GABRG2c.1211C>G
c.1306C>G (p.His436Asp)
c.1269C>G
n.464C>G
c.901C>G (p.His301Asp)
c.925C>G (p.His309Asp)
c.*3807C>G (n.*3807C>G)
c.1087C>G
c.577C>G (p.His193Asp)
c.1186C>G (p.His396Asp)
c.1210C>G (p.His404Asp)
c.1873C>G (n.1873C>G)
c.*1391C>G (n.*1391C>G)
c.*410C>G (n.*410C>G)
c.1144C>G (p.His382Asp)
c.1120C>G (p.His374Asp)
n.484C>G
n.6157C>G
c.648C>G
c.1123C>G (p.His375Asp)
c.1279C>G (p.His427Asp)
c.1330C>G (p.His444Asp)
c.*788C>G (n.*788C>G)
c.1307C>G (n.1307C>G)
c.1201C>G (p.His401Asp)
c.*44C>G (n.*44C>G)
c.1207C>G (p.His403Asp)
c.1183C>G (p.His395Asp)
c.1249C>G (p.His417Asp)
c.766C>G (p.His256Asp)
c.790C>G (p.His264Asp)
5g.162153150C>TCA362183337GABRG2c.1211C>T
c.1306C>T (p.His436Tyr)
c.1269C>T
n.464C>T
c.901C>T (p.His301Tyr)
c.925C>T (p.His309Tyr)
c.*3807C>T (n.*3807C>T)
c.1087C>T
c.577C>T (p.His193Tyr)
c.1186C>T (p.His396Tyr)
c.1210C>T (p.His404Tyr)
c.1873C>T (n.1873C>T)
c.*1391C>T (n.*1391C>T)
c.*410C>T (n.*410C>T)
c.1144C>T (p.His382Tyr)
c.1120C>T (p.His374Tyr)
n.484C>T
n.6157C>T
c.648C>T
c.1123C>T (p.His375Tyr)
c.1279C>T (p.His427Tyr)
c.1330C>T (p.His444Tyr)
c.*788C>T (n.*788C>T)
c.1307C>T (n.1307C>T)
c.1201C>T (p.His401Tyr)
c.*44C>T (n.*44C>T)
c.1207C>T (p.His403Tyr)
c.1183C>T (p.His395Tyr)
c.1249C>T (p.His417Tyr)
c.766C>T (p.His256Tyr)
c.790C>T (p.His264Tyr)
 dbSNP gnomAD v2 gnomAD v4
5g.162153151A>CCA362183341GABRG2c.1212A>C
c.1307A>C (p.His436Pro)
c.1270A>C
n.465A>C
c.902A>C (p.His301Pro)
c.926A>C (p.His309Pro)
c.*3808A>C (n.*3808A>C)
c.1088A>C
c.578A>C (p.His193Pro)
c.1187A>C (p.His396Pro)
c.1211A>C (p.His404Pro)
c.1874A>C (n.1874A>C)
c.*1392A>C (n.*1392A>C)
c.*411A>C (n.*411A>C)
c.1145A>C (p.His382Pro)
c.1121A>C (p.His374Pro)
n.485A>C
n.6158A>C
c.649A>C
c.1124A>C (p.His375Pro)
c.1280A>C (p.His427Pro)
c.1331A>C (p.His444Pro)
c.*789A>C (n.*789A>C)
c.1308A>C (n.1308A>C)
c.1202A>C (p.His401Pro)
c.*45A>C (n.*45A>C)
c.1208A>C (p.His403Pro)
c.1184A>C (p.His395Pro)
c.1250A>C (p.His417Pro)
c.767A>C (p.His256Pro)
c.791A>C (p.His264Pro)
5g.162153151A>GCA362183344GABRG2c.1212A>G
c.1307A>G (p.His436Arg)
c.1270A>G
n.465A>G
c.902A>G (p.His301Arg)
c.926A>G (p.His309Arg)
c.*3808A>G (n.*3808A>G)
c.1088A>G
c.578A>G (p.His193Arg)
c.1187A>G (p.His396Arg)
c.1211A>G (p.His404Arg)
c.1874A>G (n.1874A>G)
c.*1392A>G (n.*1392A>G)
c.*411A>G (n.*411A>G)
c.1145A>G (p.His382Arg)
c.1121A>G (p.His374Arg)
n.485A>G
n.6158A>G
c.649A>G
c.1124A>G (p.His375Arg)
c.1280A>G (p.His427Arg)
c.1331A>G (p.His444Arg)
c.*789A>G (n.*789A>G)
c.1308A>G (n.1308A>G)
c.1202A>G (p.His401Arg)
c.*45A>G (n.*45A>G)
c.1208A>G (p.His403Arg)
c.1184A>G (p.His395Arg)
c.1250A>G (p.His417Arg)
c.767A>G (p.His256Arg)
c.791A>G (p.His264Arg)
 gnomAD v4
5g.162153151A>TCA362183346GABRG2c.1212A>T
c.1307A>T (p.His436Leu)
c.1270A>T
n.465A>T
c.902A>T (p.His301Leu)
c.926A>T (p.His309Leu)
c.*3808A>T (n.*3808A>T)
c.1088A>T
c.578A>T (p.His193Leu)
c.1187A>T (p.His396Leu)
c.1211A>T (p.His404Leu)
c.1874A>T (n.1874A>T)
c.*1392A>T (n.*1392A>T)
c.*411A>T (n.*411A>T)
c.1145A>T (p.His382Leu)
c.1121A>T (p.His374Leu)
n.485A>T
n.6158A>T
c.649A>T
c.1124A>T (p.His375Leu)
c.1280A>T (p.His427Leu)
c.1331A>T (p.His444Leu)
c.*789A>T (n.*789A>T)
c.1308A>T (n.1308A>T)
c.1202A>T (p.His401Leu)
c.*45A>T (n.*45A>T)
c.1208A>T (p.His403Leu)
c.1184A>T (p.His395Leu)
c.1250A>T (p.His417Leu)
c.767A>T (p.His256Leu)
c.791A>T (p.His264Leu)
5g.162153152C>ACA362183348GABRG2c.1213C>A
c.1308C>A (p.His436Gln)
c.1271C>A
n.466C>A
c.903C>A (p.His301Gln)
c.927C>A (p.His309Gln)
c.*3809C>A (n.*3809C>A)
c.1089C>A
c.579C>A (p.His193Gln)
c.1188C>A (p.His396Gln)
c.1212C>A (p.His404Gln)
c.1875C>A (n.1875C>A)
c.*1393C>A (n.*1393C>A)
c.*412C>A (n.*412C>A)
c.1146C>A (p.His382Gln)
c.1122C>A (p.His374Gln)
n.486C>A
n.6159C>A
c.650C>A
c.1125C>A (p.His375Gln)
c.1281C>A (p.His427Gln)
c.1332C>A (p.His444Gln)
c.*790C>A (n.*790C>A)
c.1309C>A (n.1309C>A)
c.1203C>A (p.His401Gln)
c.*46C>A (n.*46C>A)
c.1209C>A (p.His403Gln)
c.1185C>A (p.His395Gln)
c.1251C>A (p.His417Gln)
c.768C>A (p.His256Gln)
c.792C>A (p.His264Gln)
5g.162153152C>GCA362183349GABRG2c.1213C>G
c.1308C>G (p.His436Gln)
c.1271C>G
n.466C>G
c.903C>G (p.His301Gln)
c.927C>G (p.His309Gln)
c.*3809C>G (n.*3809C>G)
c.1089C>G
c.579C>G (p.His193Gln)
c.1188C>G (p.His396Gln)
c.1212C>G (p.His404Gln)
c.1875C>G (n.1875C>G)
c.*1393C>G (n.*1393C>G)
c.*412C>G (n.*412C>G)
c.1146C>G (p.His382Gln)
c.1122C>G (p.His374Gln)
n.486C>G
n.6159C>G
c.650C>G
c.1125C>G (p.His375Gln)
c.1281C>G (p.His427Gln)
c.1332C>G (p.His444Gln)
c.*790C>G (n.*790C>G)
c.1309C>G (n.1309C>G)
c.1203C>G (p.His401Gln)
c.*46C>G (n.*46C>G)
c.1209C>G (p.His403Gln)
c.1185C>G (p.His395Gln)
c.1251C>G (p.His417Gln)
c.768C>G (p.His256Gln)
c.792C>G (p.His264Gln)
5g.162153152C>TCA447691715GABRG2c.1213C>T
c.1308C>T (p.His436=)
c.1271C>T
n.466C>T
c.903C>T (p.His301=)
c.927C>T (p.His309=)
c.*3809C>T (n.*3809C>T)
c.1089C>T
c.579C>T (p.His193=)
c.1188C>T (p.His396=)
c.1212C>T (p.His404=)
c.1875C>T (n.1875C>T)
c.*1393C>T (n.*1393C>T)
c.*412C>T (n.*412C>T)
c.1146C>T (p.His382=)
c.1122C>T (p.His374=)
n.486C>T
n.6159C>T
c.650C>T
c.1125C>T (p.His375=)
c.1281C>T (p.His427=)
c.1332C>T (p.His444=)
c.*790C>T (n.*790C>T)
c.1309C>T (n.1309C>T)
c.1203C>T (p.His401=)
c.*46C>T (n.*46C>T)
c.1209C>T (p.His403=)
c.1185C>T (p.His395=)
c.1251C>T (p.His417=)
c.768C>T (p.His256=)
c.792C>T (p.His264=)
5g.162153153C>ACA362183353GABRG2c.1214C>A
c.1309C>A (p.Leu437Ile)
c.1272C>A
n.467C>A
c.904C>A (p.Leu302Ile)
c.928C>A (p.Leu310Ile)
c.*3810C>A (n.*3810C>A)
c.1090C>A
c.580C>A (p.Leu194Ile)
c.1189C>A (p.Leu397Ile)
c.1213C>A (p.Leu405Ile)
c.1876C>A (n.1876C>A)
c.*1394C>A (n.*1394C>A)
c.*413C>A (n.*413C>A)
c.1147C>A (p.Leu383Ile)
c.1123C>A (p.Leu375Ile)
n.487C>A
n.6160C>A
c.651C>A
c.1126C>A (p.Leu376Ile)
c.1282C>A (p.Leu428Ile)
c.1333C>A (p.Leu445Ile)
c.*791C>A (n.*791C>A)
c.1310C>A (n.1310C>A)
c.1204C>A (p.Leu402Ile)
c.*47C>A (n.*47C>A)
c.1210C>A (p.Leu404Ile)
c.1186C>A (p.Leu396Ile)
c.1252C>A (p.Leu418Ile)
c.769C>A (p.Leu257Ile)
c.793C>A (p.Leu265Ile)
5g.162153153C>GCA362183355GABRG2c.1214C>G
c.1309C>G (p.Leu437Val)
c.1272C>G
n.467C>G
c.904C>G (p.Leu302Val)
c.928C>G (p.Leu310Val)
c.*3810C>G (n.*3810C>G)
c.1090C>G
c.580C>G (p.Leu194Val)
c.1189C>G (p.Leu397Val)
c.1213C>G (p.Leu405Val)
c.1876C>G (n.1876C>G)
c.*1394C>G (n.*1394C>G)
c.*413C>G (n.*413C>G)
c.1147C>G (p.Leu383Val)
c.1123C>G (p.Leu375Val)
n.487C>G
n.6160C>G
c.651C>G
c.1126C>G (p.Leu376Val)
c.1282C>G (p.Leu428Val)
c.1333C>G (p.Leu445Val)
c.*791C>G (n.*791C>G)
c.1310C>G (n.1310C>G)
c.1204C>G (p.Leu402Val)
c.*47C>G (n.*47C>G)
c.1210C>G (p.Leu404Val)
c.1186C>G (p.Leu396Val)
c.1252C>G (p.Leu418Val)
c.769C>G (p.Leu257Val)
c.793C>G (p.Leu265Val)
5g.162153153C>TCA362183358GABRG2c.1214C>T
c.1309C>T (p.Leu437Phe)
c.1272C>T
n.467C>T
c.904C>T (p.Leu302Phe)
c.928C>T (p.Leu310Phe)
c.*3810C>T (n.*3810C>T)
c.1090C>T
c.580C>T (p.Leu194Phe)
c.1189C>T (p.Leu397Phe)
c.1213C>T (p.Leu405Phe)
c.1876C>T (n.1876C>T)
c.*1394C>T (n.*1394C>T)
c.*413C>T (n.*413C>T)
c.1147C>T (p.Leu383Phe)
c.1123C>T (p.Leu375Phe)
n.487C>T
n.6160C>T
c.651C>T
c.1126C>T (p.Leu376Phe)
c.1282C>T (p.Leu428Phe)
c.1333C>T (p.Leu445Phe)
c.*791C>T (n.*791C>T)
c.1310C>T (n.1310C>T)
c.1204C>T (p.Leu402Phe)
c.*47C>T (n.*47C>T)
c.1210C>T (p.Leu404Phe)
c.1186C>T (p.Leu396Phe)
c.1252C>T (p.Leu418Phe)
c.769C>T (p.Leu257Phe)
c.793C>T (p.Leu265Phe)
 gnomAD v4
5g.162153154T>ACA362183361GABRG2c.1215T>A
c.1310T>A (p.Leu437His)
c.1273T>A
n.468T>A
c.905T>A (p.Leu302His)
c.929T>A (p.Leu310His)
c.*3811T>A (n.*3811T>A)
c.1091T>A
c.581T>A (p.Leu194His)
c.1190T>A (p.Leu397His)
c.1214T>A (p.Leu405His)
c.1877T>A (n.1877T>A)
c.*1395T>A (n.*1395T>A)
c.*414T>A (n.*414T>A)
c.1148T>A (p.Leu383His)
c.1124T>A (p.Leu375His)
n.488T>A
n.6161T>A
c.652T>A
c.1127T>A (p.Leu376His)
c.1283T>A (p.Leu428His)
c.1334T>A (p.Leu445His)
c.*792T>A (n.*792T>A)
c.1311T>A (n.1311T>A)
c.1205T>A (p.Leu402His)
c.*48T>A (n.*48T>A)
c.1211T>A (p.Leu404His)
c.1187T>A (p.Leu396His)
c.1253T>A (p.Leu418His)
c.770T>A (p.Leu257His)
c.794T>A (p.Leu265His)
5g.162153154T>CCA362183363GABRG2c.1215T>C
c.1310T>C (p.Leu437Pro)
c.1273T>C
n.468T>C
c.905T>C (p.Leu302Pro)
c.929T>C (p.Leu310Pro)
c.*3811T>C (n.*3811T>C)
c.1091T>C
c.581T>C (p.Leu194Pro)
c.1190T>C (p.Leu397Pro)
c.1214T>C (p.Leu405Pro)
c.1877T>C (n.1877T>C)
c.*1395T>C (n.*1395T>C)
c.*414T>C (n.*414T>C)
c.1148T>C (p.Leu383Pro)
c.1124T>C (p.Leu375Pro)
n.488T>C
n.6161T>C
c.652T>C
c.1127T>C (p.Leu376Pro)
c.1283T>C (p.Leu428Pro)
c.1334T>C (p.Leu445Pro)
c.*792T>C (n.*792T>C)
c.1311T>C (n.1311T>C)
c.1205T>C (p.Leu402Pro)
c.*48T>C (n.*48T>C)
c.1211T>C (p.Leu404Pro)
c.1187T>C (p.Leu396Pro)
c.1253T>C (p.Leu418Pro)
c.770T>C (p.Leu257Pro)
c.794T>C (p.Leu265Pro)
5g.162153154T>GCA362183366GABRG2c.1215T>G
c.1310T>G (p.Leu437Arg)
c.1273T>G
n.468T>G
c.905T>G (p.Leu302Arg)
c.929T>G (p.Leu310Arg)
c.*3811T>G (n.*3811T>G)
c.1091T>G
c.581T>G (p.Leu194Arg)
c.1190T>G (p.Leu397Arg)
c.1214T>G (p.Leu405Arg)
c.1877T>G (n.1877T>G)
c.*1395T>G (n.*1395T>G)
c.*414T>G (n.*414T>G)
c.1148T>G (p.Leu383Arg)
c.1124T>G (p.Leu375Arg)
n.488T>G
n.6161T>G
c.652T>G
c.1127T>G (p.Leu376Arg)
c.1283T>G (p.Leu428Arg)
c.1334T>G (p.Leu445Arg)
c.*792T>G (n.*792T>G)
c.1311T>G (n.1311T>G)
c.1205T>G (p.Leu402Arg)
c.*48T>G (n.*48T>G)
c.1211T>G (p.Leu404Arg)
c.1187T>G (p.Leu396Arg)
c.1253T>G (p.Leu418Arg)
c.770T>G (p.Leu257Arg)
c.794T>G (p.Leu265Arg)
5g.162153155T>ACA447691722GABRG2c.1216T>A
c.1311T>A (p.Leu437=)
c.1274T>A
n.469T>A
c.906T>A (p.Leu302=)
c.930T>A (p.Leu310=)
c.*3812T>A (n.*3812T>A)
c.1092T>A
c.582T>A (p.Leu194=)
c.1191T>A (p.Leu397=)
c.1215T>A (p.Leu405=)
c.1878T>A (n.1878T>A)
c.*1396T>A (n.*1396T>A)
c.*415T>A (n.*415T>A)
c.1149T>A (p.Leu383=)
c.1125T>A (p.Leu375=)
n.489T>A
n.6162T>A
c.653T>A
c.1128T>A (p.Leu376=)
c.1284T>A (p.Leu428=)
c.1335T>A (p.Leu445=)
c.*793T>A (n.*793T>A)
c.1312T>A (n.1312T>A)
c.1206T>A (p.Leu402=)
c.*49T>A (n.*49T>A)
c.1212T>A (p.Leu404=)
c.1188T>A (p.Leu396=)
c.1254T>A (p.Leu418=)
c.771T>A (p.Leu257=)
c.795T>A (p.Leu265=)
5g.162153155T>CCA447691726GABRG2c.1216T>C
c.1311T>C (p.Leu437=)
c.1274T>C
n.469T>C
c.906T>C (p.Leu302=)
c.930T>C (p.Leu310=)
c.*3812T>C (n.*3812T>C)
c.1092T>C
c.582T>C (p.Leu194=)
c.1191T>C (p.Leu397=)
c.1215T>C (p.Leu405=)
c.1878T>C (n.1878T>C)
c.*1396T>C (n.*1396T>C)
c.*415T>C (n.*415T>C)
c.1149T>C (p.Leu383=)
c.1125T>C (p.Leu375=)
n.489T>C
n.6162T>C
c.653T>C
c.1128T>C (p.Leu376=)
c.1284T>C (p.Leu428=)
c.1335T>C (p.Leu445=)
c.*793T>C (n.*793T>C)
c.1312T>C (n.1312T>C)
c.1206T>C (p.Leu402=)
c.*49T>C (n.*49T>C)
c.1212T>C (p.Leu404=)
c.1188T>C (p.Leu396=)
c.1254T>C (p.Leu418=)
c.771T>C (p.Leu257=)
c.795T>C (p.Leu265=)
 COSMIC
5g.162153155T>GCA447691723GABRG2c.1216T>G
c.1311T>G (p.Leu437=)
c.1274T>G
n.469T>G
c.906T>G (p.Leu302=)
c.930T>G (p.Leu310=)
c.*3812T>G (n.*3812T>G)
c.1092T>G
c.582T>G (p.Leu194=)
c.1191T>G (p.Leu397=)
c.1215T>G (p.Leu405=)
c.1878T>G (n.1878T>G)
c.*1396T>G (n.*1396T>G)
c.*415T>G (n.*415T>G)
c.1149T>G (p.Leu383=)
c.1125T>G (p.Leu375=)
n.489T>G
n.6162T>G
c.653T>G
c.1128T>G (p.Leu376=)
c.1284T>G (p.Leu428=)
c.1335T>G (p.Leu445=)
c.*793T>G (n.*793T>G)
c.1312T>G (n.1312T>G)
c.1206T>G (p.Leu402=)
c.*49T>G (n.*49T>G)
c.1212T>G (p.Leu404=)
c.1188T>G (p.Leu396=)
c.1254T>G (p.Leu418=)
c.771T>G (p.Leu257=)
c.795T>G (p.Leu265=)
5g.162153156C>ACA362183372GABRG2c.1217C>A
c.1312C>A (p.Gln438Lys)
c.1275C>A
n.470C>A
c.907C>A (p.Gln303Lys)
c.931C>A (p.Gln311Lys)
c.*3813C>A (n.*3813C>A)
c.1093C>A
c.583C>A (p.Gln195Lys)
c.1192C>A (p.Gln398Lys)
c.1216C>A (p.Gln406Lys)
c.1879C>A (n.1879C>A)
c.*1397C>A (n.*1397C>A)
c.*416C>A (n.*416C>A)
c.1150C>A (p.Gln384Lys)
c.1126C>A (p.Gln376Lys)
n.490C>A
n.6163C>A
c.654C>A
c.1129C>A (p.Gln377Lys)
c.1285C>A (p.Gln429Lys)
c.1336C>A (p.Gln446Lys)
c.*794C>A (n.*794C>A)
c.1313C>A (n.1313C>A)
c.1207C>A (p.Gln403Lys)
c.*50C>A (n.*50C>A)
c.1213C>A (p.Gln405Lys)
c.1189C>A (p.Gln397Lys)
c.1255C>A (p.Gln419Lys)
c.772C>A (p.Gln258Lys)
c.796C>A (p.Gln266Lys)
5g.162153156C>GCA362183375GABRG2c.1217C>G
c.1312C>G (p.Gln438Glu)
c.1275C>G
n.470C>G
c.907C>G (p.Gln303Glu)
c.931C>G (p.Gln311Glu)
c.*3813C>G (n.*3813C>G)
c.1093C>G
c.583C>G (p.Gln195Glu)
c.1192C>G (p.Gln398Glu)
c.1216C>G (p.Gln406Glu)
c.1879C>G (n.1879C>G)
c.*1397C>G (n.*1397C>G)
c.*416C>G (n.*416C>G)
c.1150C>G (p.Gln384Glu)
c.1126C>G (p.Gln376Glu)
n.490C>G
n.6163C>G
c.654C>G
c.1129C>G (p.Gln377Glu)
c.1285C>G (p.Gln429Glu)
c.1336C>G (p.Gln446Glu)
c.*794C>G (n.*794C>G)
c.1313C>G (n.1313C>G)
c.1207C>G (p.Gln403Glu)
c.*50C>G (n.*50C>G)
c.1213C>G (p.Gln405Glu)
c.1189C>G (p.Gln397Glu)
c.1255C>G (p.Gln419Glu)
c.772C>G (p.Gln258Glu)
c.796C>G (p.Gln266Glu)
5g.162153156C>TCA362183369GABRG2c.1217C>T
c.1312C>T (p.Gln438Ter)
c.1275C>T
n.470C>T
c.907C>T (p.Gln303Ter)
c.931C>T (p.Gln311Ter)
c.*3813C>T (n.*3813C>T)
c.1093C>T
c.583C>T (p.Gln195Ter)
c.1192C>T (p.Gln398Ter)
c.1216C>T (p.Gln406Ter)
c.1879C>T (n.1879C>T)
c.*1397C>T (n.*1397C>T)
c.*416C>T (n.*416C>T)
c.1150C>T (p.Gln384Ter)
c.1126C>T (p.Gln376Ter)
n.490C>T
n.6163C>T
c.654C>T
c.1129C>T (p.Gln377Ter)
c.1285C>T (p.Gln429Ter)
c.1336C>T (p.Gln446Ter)
c.*794C>T (n.*794C>T)
c.1313C>T (n.1313C>T)
c.1207C>T (p.Gln403Ter)
c.*50C>T (n.*50C>T)
c.1213C>T (p.Gln405Ter)
c.1189C>T (p.Gln397Ter)
c.1255C>T (p.Gln419Ter)
c.772C>T (p.Gln258Ter)
c.796C>T (p.Gln266Ter)
5g.162153156_162153158delinsCAACA1596382005GABRG2c.1217_1219delinsCAA
c.1312_1314delinsCAA (p.Gln438=)
c.1275_1277delinsCAA
n.470_472delinsCAA
c.907_909delinsCAA (p.Gln303=)
c.931_933delinsCAA (p.Gln311=)
c.*3813_*3815delinsCAA (n.*3813_*3815delinsCAA)
c.1093_1095delinsCAA
c.583_585delinsCAA (p.Gln195=)
c.1192_1194delinsCAA (p.Gln398=)
c.1216_1218delinsCAA (p.Gln406=)
c.1879_1881delinsCAA (n.1879_1881delinsCAA)
c.*1397_*1399delinsCAA (n.*1397_*1399delinsCAA)
c.*416_*418delinsCAA (n.*416_*418delinsCAA)
c.1150_1152delinsCAA (p.Gln384=)
c.1126_1128delinsCAA (p.Gln376=)
n.490_492delinsCAA
n.6163_6165delinsCAA
c.654_656delinsCAA
c.1129_1131delinsCAA (p.Gln377=)
c.1285_1287delinsCAA (p.Gln429=)
c.1336_1338delinsCAA (p.Gln446=)
c.*794_*796delinsCAA (n.*794_*796delinsCAA)
c.1313_1315delinsCAA (n.1313_1315delinsCAA)
c.1207_1209delinsCAA (p.Gln403=)
c.*50_*52delinsCAA (n.*50_*52delinsCAA)
c.1213_1215delinsCAA (p.Gln405=)
c.1189_1191delinsCAA (p.Gln397=)
c.1255_1257delinsCAA (p.Gln419=)
c.772_774delinsCAA (p.Gln258=)
c.796_798delinsCAA (p.Gln266=)
5g.162153157A>CCA362183378GABRG2c.1218A>C
c.1313A>C (p.Gln438Pro)
c.1276A>C
n.471A>C
c.908A>C (p.Gln303Pro)
c.932A>C (p.Gln311Pro)
c.*3814A>C (n.*3814A>C)
c.1094A>C
c.584A>C (p.Gln195Pro)
c.1193A>C (p.Gln398Pro)
c.1217A>C (p.Gln406Pro)
c.1880A>C (n.1880A>C)
c.*1398A>C (n.*1398A>C)
c.*417A>C (n.*417A>C)
c.1151A>C (p.Gln384Pro)
c.1127A>C (p.Gln376Pro)
n.491A>C
n.6164A>C
c.655A>C
c.1130A>C (p.Gln377Pro)
c.1286A>C (p.Gln429Pro)
c.1337A>C (p.Gln446Pro)
c.*795A>C (n.*795A>C)
c.1314A>C (n.1314A>C)
c.1208A>C (p.Gln403Pro)
c.*51A>C (n.*51A>C)
c.1214A>C (p.Gln405Pro)
c.1190A>C (p.Gln397Pro)
c.1256A>C (p.Gln419Pro)
c.773A>C (p.Gln258Pro)
c.797A>C (p.Gln266Pro)
5g.162153157A>GCA362183381GABRG2c.1218A>G
c.1313A>G (p.Gln438Arg)
c.1276A>G
n.471A>G
c.908A>G (p.Gln303Arg)
c.932A>G (p.Gln311Arg)
c.*3814A>G (n.*3814A>G)
c.1094A>G
c.584A>G (p.Gln195Arg)
c.1193A>G (p.Gln398Arg)
c.1217A>G (p.Gln406Arg)
c.1880A>G (n.1880A>G)
c.*1398A>G (n.*1398A>G)
c.*417A>G (n.*417A>G)
c.1151A>G (p.Gln384Arg)
c.1127A>G (p.Gln376Arg)
n.491A>G
n.6164A>G
c.655A>G
c.1130A>G (p.Gln377Arg)
c.1286A>G (p.Gln429Arg)
c.1337A>G (p.Gln446Arg)
c.*795A>G (n.*795A>G)
c.1314A>G (n.1314A>G)
c.1208A>G (p.Gln403Arg)
c.*51A>G (n.*51A>G)
c.1214A>G (p.Gln405Arg)
c.1190A>G (p.Gln397Arg)
c.1256A>G (p.Gln419Arg)
c.773A>G (p.Gln258Arg)
c.797A>G (p.Gln266Arg)
 gnomAD v4
5g.162153157A>TCA362183383GABRG2c.1218A>T
c.1313A>T (p.Gln438Leu)
c.1276A>T
n.471A>T
c.908A>T (p.Gln303Leu)
c.932A>T (p.Gln311Leu)
c.*3814A>T (n.*3814A>T)
c.1094A>T
c.584A>T (p.Gln195Leu)
c.1193A>T (p.Gln398Leu)
c.1217A>T (p.Gln406Leu)
c.1880A>T (n.1880A>T)
c.*1398A>T (n.*1398A>T)
c.*417A>T (n.*417A>T)
c.1151A>T (p.Gln384Leu)
c.1127A>T (p.Gln376Leu)
n.491A>T
n.6164A>T
c.655A>T
c.1130A>T (p.Gln377Leu)
c.1286A>T (p.Gln429Leu)
c.1337A>T (p.Gln446Leu)
c.*795A>T (n.*795A>T)
c.1314A>T (n.1314A>T)
c.1208A>T (p.Gln403Leu)
c.*51A>T (n.*51A>T)
c.1214A>T (p.Gln405Leu)
c.1190A>T (p.Gln397Leu)
c.1256A>T (p.Gln419Leu)
c.773A>T (p.Gln258Leu)
c.797A>T (p.Gln266Leu)
5g.162153157_162153158delCA658657567GABRG2c.1218_1219del
c.1313_1314del (p.Gln438ArgfsTer4)
c.1276_1277del
n.471_472del
c.908_909del (p.Gln303ArgfsTer4)
c.932_933del (p.Gln311ArgfsTer4)
c.*3814_*3815del (n.*3814_*3815del)
c.1094_1095del
c.584_585del (p.Gln195ArgfsTer4)
c.1193_1194del (p.Gln398ArgfsTer4)
c.1217_1218del (p.Gln406ArgfsTer4)
c.1880_1881del (n.1880_1881del)
c.*1398_*1399del (n.*1398_*1399del)
c.*417_*418del (n.*417_*418del)
c.1151_1152del (p.Gln384ArgfsTer4)
c.1127_1128del (p.Gln376ArgfsTer4)
n.491_492del
n.6164_6165del
c.655_656del
c.1130_1131del (p.Gln377ArgfsTer4)
c.1286_1287del (p.Gln429ArgfsTer4)
c.1337_1338del (p.Gln446ArgfsTer4)
c.*795_*796del (n.*795_*796del)
c.1314_1315del (n.1314_1315del)
c.1208_1209del (p.Gln403ArgfsTer4)
c.*51_*52del (n.*51_*52del)
c.1214_1215del (p.Gln405ArgfsTer4)
c.1190_1191del (p.Gln397ArgfsTer4)
c.1256_1257del (p.Gln419ArgfsTer4)
c.773_774del (p.Gln258ArgfsTer4)
c.797_798del (p.Gln266ArgfsTer4)
 ClinVar dbSNP gnomAD v4
5g.162153158A>CCA362183386GABRG2c.1219A>C
c.1314A>C (p.Gln438His)
c.1277A>C
n.472A>C
c.909A>C (p.Gln303His)
c.933A>C (p.Gln311His)
c.*3815A>C (n.*3815A>C)
c.1095A>C
c.585A>C (p.Gln195His)
c.1194A>C (p.Gln398His)
c.1218A>C (p.Gln406His)
c.1881A>C (n.1881A>C)
c.*1399A>C (n.*1399A>C)
c.*418A>C (n.*418A>C)
c.1152A>C (p.Gln384His)
c.1128A>C (p.Gln376His)
n.492A>C
n.6165A>C
c.656A>C
c.1131A>C (p.Gln377His)
c.1287A>C (p.Gln429His)
c.1338A>C (p.Gln446His)
c.*796A>C (n.*796A>C)
c.1315A>C (n.1315A>C)
c.1209A>C (p.Gln403His)
c.*52A>C (n.*52A>C)
c.1215A>C (p.Gln405His)
c.1191A>C (p.Gln397His)
c.1257A>C (p.Gln419His)
c.774A>C (p.Gln258His)
c.798A>C (p.Gln266His)
5g.162153158A>GCA447691731GABRG2c.1219A>G
c.1314A>G (p.Gln438=)
c.1277A>G
n.472A>G
c.909A>G (p.Gln303=)
c.933A>G (p.Gln311=)
c.*3815A>G (n.*3815A>G)
c.1095A>G
c.585A>G (p.Gln195=)
c.1194A>G (p.Gln398=)
c.1218A>G (p.Gln406=)
c.1881A>G (n.1881A>G)
c.*1399A>G (n.*1399A>G)
c.*418A>G (n.*418A>G)
c.1152A>G (p.Gln384=)
c.1128A>G (p.Gln376=)
n.492A>G
n.6165A>G
c.656A>G
c.1131A>G (p.Gln377=)
c.1287A>G (p.Gln429=)
c.1338A>G (p.Gln446=)
c.*796A>G (n.*796A>G)
c.1315A>G (n.1315A>G)
c.1209A>G (p.Gln403=)
c.*52A>G (n.*52A>G)
c.1215A>G (p.Gln405=)
c.1191A>G (p.Gln397=)
c.1257A>G (p.Gln419=)
c.774A>G (p.Gln258=)
c.798A>G (p.Gln266=)
5g.162153158A>TCA362183388GABRG2c.1219A>T
c.1314A>T (p.Gln438His)
c.1277A>T
n.472A>T
c.909A>T (p.Gln303His)
c.933A>T (p.Gln311His)
c.*3815A>T (n.*3815A>T)
c.1095A>T
c.585A>T (p.Gln195His)
c.1194A>T (p.Gln398His)
c.1218A>T (p.Gln406His)
c.1881A>T (n.1881A>T)
c.*1399A>T (n.*1399A>T)
c.*418A>T (n.*418A>T)
c.1152A>T (p.Gln384His)
c.1128A>T (p.Gln376His)
n.492A>T
n.6165A>T
c.656A>T
c.1131A>T (p.Gln377His)
c.1287A>T (p.Gln429His)
c.1338A>T (p.Gln446His)
c.*796A>T (n.*796A>T)
c.1315A>T (n.1315A>T)
c.1209A>T (p.Gln403His)
c.*52A>T (n.*52A>T)
c.1215A>T (p.Gln405His)
c.1191A>T (p.Gln397His)
c.1257A>T (p.Gln419His)
c.774A>T (p.Gln258His)
c.798A>T (p.Gln266His)
5g.162153159G>ACA3544980GABRG2c.1220G>A
c.1315G>A (p.Glu439Lys)
c.1278G>A
n.473G>A
c.910G>A (p.Glu304Lys)
c.934G>A (p.Glu312Lys)
c.*3816G>A (n.*3816G>A)
c.1096G>A
c.586G>A (p.Glu196Lys)
c.1195G>A (p.Glu399Lys)
c.1219G>A (p.Glu407Lys)
c.1882G>A (n.1882G>A)
c.*1400G>A (n.*1400G>A)
c.*419G>A (n.*419G>A)
c.1153G>A (p.Glu385Lys)
c.1129G>A (p.Glu377Lys)
n.493G>A
n.6166G>A
c.657G>A
c.1132G>A (p.Glu378Lys)
c.1288G>A (p.Glu430Lys)
c.1339G>A (p.Glu447Lys)
c.*797G>A (n.*797G>A)
c.1316G>A (n.1316G>A)
c.1210G>A (p.Glu404Lys)
c.*53G>A (n.*53G>A)
c.1216G>A (p.Glu406Lys)
c.1192G>A (p.Glu398Lys)
c.1258G>A (p.Glu420Lys)
c.775G>A (p.Glu259Lys)
c.799G>A (p.Glu267Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.162153159G>CCA362183393GABRG2c.1220G>C
c.1315G>C (p.Glu439Gln)
c.1278G>C
n.473G>C
c.910G>C (p.Glu304Gln)
c.934G>C (p.Glu312Gln)
c.*3816G>C (n.*3816G>C)
c.1096G>C
c.586G>C (p.Glu196Gln)
c.1195G>C (p.Glu399Gln)
c.1219G>C (p.Glu407Gln)
c.1882G>C (n.1882G>C)
c.*1400G>C (n.*1400G>C)
c.*419G>C (n.*419G>C)
c.1153G>C (p.Glu385Gln)
c.1129G>C (p.Glu377Gln)
n.493G>C
n.6166G>C
c.657G>C
c.1132G>C (p.Glu378Gln)
c.1288G>C (p.Glu430Gln)
c.1339G>C (p.Glu447Gln)
c.*797G>C (n.*797G>C)
c.1316G>C (n.1316G>C)
c.1210G>C (p.Glu404Gln)
c.*53G>C (n.*53G>C)
c.1216G>C (p.Glu406Gln)
c.1192G>C (p.Glu398Gln)
c.1258G>C (p.Glu420Gln)
c.775G>C (p.Glu259Gln)
c.799G>C (p.Glu267Gln)
 gnomAD v4
5g.162153159G=CA1596382014GABRG2c.1220G=
c.1315G= (p.Glu439=)
c.1278G=
n.473G=
c.910G= (p.Glu304=)
c.934G= (p.Glu312=)
c.*3816G= (n.*3816G=)
c.1096G=
c.586G= (p.Glu196=)
c.1195G= (p.Glu399=)
c.1219G= (p.Glu407=)
c.1882G= (n.1882G=)
c.*1400G= (n.*1400G=)
c.*419G= (n.*419G=)
c.1153G= (p.Glu385=)
c.1129G= (p.Glu377=)
n.493G=
n.6166G=
c.657G=
c.1132G= (p.Glu378=)
c.1288G= (p.Glu430=)
c.1339G= (p.Glu447=)
c.*797G= (n.*797G=)
c.1316G= (n.1316G=)
c.1210G= (p.Glu404=)
c.*53G= (n.*53G=)
c.1216G= (p.Glu406=)
c.1192G= (p.Glu398=)
c.1258G= (p.Glu420=)
c.775G= (p.Glu259=)
c.799G= (p.Glu267=)
5g.162153159G>TCA362183395GABRG2c.1220G>T
c.1315G>T (p.Glu439Ter)
c.1278G>T
n.473G>T
c.910G>T (p.Glu304Ter)
c.934G>T (p.Glu312Ter)
c.*3816G>T (n.*3816G>T)
c.1096G>T
c.586G>T (p.Glu196Ter)
c.1195G>T (p.Glu399Ter)
c.1219G>T (p.Glu407Ter)
c.1882G>T (n.1882G>T)
c.*1400G>T (n.*1400G>T)
c.*419G>T (n.*419G>T)
c.1153G>T (p.Glu385Ter)
c.1129G>T (p.Glu377Ter)
n.493G>T
n.6166G>T
c.657G>T
c.1132G>T (p.Glu378Ter)
c.1288G>T (p.Glu430Ter)
c.1339G>T (p.Glu447Ter)
c.*797G>T (n.*797G>T)
c.1316G>T (n.1316G>T)
c.1210G>T (p.Glu404Ter)
c.*53G>T (n.*53G>T)
c.1216G>T (p.Glu406Ter)
c.1192G>T (p.Glu398Ter)
c.1258G>T (p.Glu420Ter)
c.775G>T (p.Glu259Ter)
c.799G>T (p.Glu267Ter)
5g.162153160A=CA1596382018GABRG2c.1221A=
c.1316A= (p.Glu439=)
c.1279A=
n.474A=
c.911A= (p.Glu304=)
c.935A= (p.Glu312=)
c.*3817A= (n.*3817A=)
c.1097A=
c.587A= (p.Glu196=)
c.1196A= (p.Glu399=)
c.1220A= (p.Glu407=)
c.1883A= (n.1883A=)
c.*1401A= (n.*1401A=)
c.*420A= (n.*420A=)
c.1154A= (p.Glu385=)
c.1130A= (p.Glu377=)
n.494A=
n.6167A=
c.658A=
c.1133A= (p.Glu378=)
c.1289A= (p.Glu430=)
c.1340A= (p.Glu447=)
c.*798A= (n.*798A=)
c.1317A= (n.1317A=)
c.1211A= (p.Glu404=)
c.*54A= (n.*54A=)
c.1217A= (p.Glu406=)
c.1193A= (p.Glu398=)
c.1259A= (p.Glu420=)
c.776A= (p.Glu259=)
c.800A= (p.Glu267=)
5g.162153160A>CCA362183399GABRG2c.1221A>C
c.1316A>C (p.Glu439Ala)
c.1279A>C
n.474A>C
c.911A>C (p.Glu304Ala)
c.935A>C (p.Glu312Ala)
c.*3817A>C (n.*3817A>C)
c.1097A>C
c.587A>C (p.Glu196Ala)
c.1196A>C (p.Glu399Ala)
c.1220A>C (p.Glu407Ala)
c.1883A>C (n.1883A>C)
c.*1401A>C (n.*1401A>C)
c.*420A>C (n.*420A>C)
c.1154A>C (p.Glu385Ala)
c.1130A>C (p.Glu377Ala)
n.494A>C
n.6167A>C
c.658A>C
c.1133A>C (p.Glu378Ala)
c.1289A>C (p.Glu430Ala)
c.1340A>C (p.Glu447Ala)
c.*798A>C (n.*798A>C)
c.1317A>C (n.1317A>C)
c.1211A>C (p.Glu404Ala)
c.*54A>C (n.*54A>C)
c.1217A>C (p.Glu406Ala)
c.1193A>C (p.Glu398Ala)
c.1259A>C (p.Glu420Ala)
c.776A>C (p.Glu259Ala)
c.800A>C (p.Glu267Ala)
5g.162153160A>GCA362183400GABRG2c.1221A>G
c.1316A>G (p.Glu439Gly)
c.1279A>G
n.474A>G
c.911A>G (p.Glu304Gly)
c.935A>G (p.Glu312Gly)
c.*3817A>G (n.*3817A>G)
c.1097A>G
c.587A>G (p.Glu196Gly)
c.1196A>G (p.Glu399Gly)
c.1220A>G (p.Glu407Gly)
c.1883A>G (n.1883A>G)
c.*1401A>G (n.*1401A>G)
c.*420A>G (n.*420A>G)
c.1154A>G (p.Glu385Gly)
c.1130A>G (p.Glu377Gly)
n.494A>G
n.6167A>G
c.658A>G
c.1133A>G (p.Glu378Gly)
c.1289A>G (p.Glu430Gly)
c.1340A>G (p.Glu447Gly)
c.*798A>G (n.*798A>G)
c.1317A>G (n.1317A>G)
c.1211A>G (p.Glu404Gly)
c.*54A>G (n.*54A>G)
c.1217A>G (p.Glu406Gly)
c.1193A>G (p.Glu398Gly)
c.1259A>G (p.Glu420Gly)
c.776A>G (p.Glu259Gly)
c.800A>G (p.Glu267Gly)
 dbSNP
5g.162153160A>TCA362183403GABRG2c.1221A>T
c.1316A>T (p.Glu439Val)
c.1279A>T
n.474A>T
c.911A>T (p.Glu304Val)
c.935A>T (p.Glu312Val)
c.*3817A>T (n.*3817A>T)
c.1097A>T
c.587A>T (p.Glu196Val)
c.1196A>T (p.Glu399Val)
c.1220A>T (p.Glu407Val)
c.1883A>T (n.1883A>T)
c.*1401A>T (n.*1401A>T)
c.*420A>T (n.*420A>T)
c.1154A>T (p.Glu385Val)
c.1130A>T (p.Glu377Val)
n.494A>T
n.6167A>T
c.658A>T
c.1133A>T (p.Glu378Val)
c.1289A>T (p.Glu430Val)
c.1340A>T (p.Glu447Val)
c.*798A>T (n.*798A>T)
c.1317A>T (n.1317A>T)
c.1211A>T (p.Glu404Val)
c.*54A>T (n.*54A>T)
c.1217A>T (p.Glu406Val)
c.1193A>T (p.Glu398Val)
c.1259A>T (p.Glu420Val)
c.776A>T (p.Glu259Val)
c.800A>T (p.Glu267Val)
 COSMIC
5g.162153161G>ACA447691736GABRG2c.1222G>A
c.1317G>A (p.Glu439=)
c.1280G>A
n.475G>A
c.912G>A (p.Glu304=)
c.936G>A (p.Glu312=)
c.*3818G>A (n.*3818G>A)
c.1098G>A
c.588G>A (p.Glu196=)
c.1197G>A (p.Glu399=)
c.1221G>A (p.Glu407=)
c.1884G>A (n.1884G>A)
c.*1402G>A (n.*1402G>A)
c.*421G>A (n.*421G>A)
c.1155G>A (p.Glu385=)
c.1131G>A (p.Glu377=)
n.495G>A
n.6168G>A
c.659G>A
c.1134G>A (p.Glu378=)
c.1290G>A (p.Glu430=)
c.1341G>A (p.Glu447=)
c.*799G>A (n.*799G>A)
c.1318G>A (n.1318G>A)
c.1212G>A (p.Glu404=)
c.*55G>A (n.*55G>A)
c.1218G>A (p.Glu406=)
c.1194G>A (p.Glu398=)
c.1260G>A (p.Glu420=)
c.777G>A (p.Glu259=)
c.801G>A (p.Glu267=)
 gnomAD v4
5g.162153161G>CCA362183406GABRG2c.1222G>C
c.1317G>C (p.Glu439Asp)
c.1280G>C
n.475G>C
c.912G>C (p.Glu304Asp)
c.936G>C (p.Glu312Asp)
c.*3818G>C (n.*3818G>C)
c.1098G>C
c.588G>C (p.Glu196Asp)
c.1197G>C (p.Glu399Asp)
c.1221G>C (p.Glu407Asp)
c.1884G>C (n.1884G>C)
c.*1402G>C (n.*1402G>C)
c.*421G>C (n.*421G>C)
c.1155G>C (p.Glu385Asp)
c.1131G>C (p.Glu377Asp)
n.495G>C
n.6168G>C
c.659G>C
c.1134G>C (p.Glu378Asp)
c.1290G>C (p.Glu430Asp)
c.1341G>C (p.Glu447Asp)
c.*799G>C (n.*799G>C)
c.1318G>C (n.1318G>C)
c.1212G>C (p.Glu404Asp)
c.*55G>C (n.*55G>C)
c.1218G>C (p.Glu406Asp)
c.1194G>C (p.Glu398Asp)
c.1260G>C (p.Glu420Asp)
c.777G>C (p.Glu259Asp)
c.801G>C (p.Glu267Asp)
5g.162153161G>TCA362183408GABRG2c.1222G>T
c.1317G>T (p.Glu439Asp)
c.1280G>T
n.475G>T
c.912G>T (p.Glu304Asp)
c.936G>T (p.Glu312Asp)
c.*3818G>T (n.*3818G>T)
c.1098G>T
c.588G>T (p.Glu196Asp)
c.1197G>T (p.Glu399Asp)
c.1221G>T (p.Glu407Asp)
c.1884G>T (n.1884G>T)
c.*1402G>T (n.*1402G>T)
c.*421G>T (n.*421G>T)
c.1155G>T (p.Glu385Asp)
c.1131G>T (p.Glu377Asp)
n.495G>T
n.6168G>T
c.659G>T
c.1134G>T (p.Glu378Asp)
c.1290G>T (p.Glu430Asp)
c.1341G>T (p.Glu447Asp)
c.*799G>T (n.*799G>T)
c.1318G>T (n.1318G>T)
c.1212G>T (p.Glu404Asp)
c.*55G>T (n.*55G>T)
c.1218G>T (p.Glu406Asp)
c.1194G>T (p.Glu398Asp)
c.1260G>T (p.Glu420Asp)
c.777G>T (p.Glu259Asp)
c.801G>T (p.Glu267Asp)
5g.162153162A>CCA447691737GABRG2c.1223A>C
c.1318A>C (p.Arg440=)
c.1281A>C
n.476A>C
c.913A>C (p.Arg305=)
c.937A>C (p.Arg313=)
c.*3819A>C (n.*3819A>C)
c.1099A>C
c.589A>C (p.Arg197=)
c.1198A>C (p.Arg400=)
c.1222A>C (p.Arg408=)
c.1885A>C (n.1885A>C)
c.*1403A>C (n.*1403A>C)
c.*422A>C (n.*422A>C)
c.1156A>C (p.Arg386=)
c.1132A>C (p.Arg378=)
n.496A>C
n.6169A>C
c.660A>C
c.1135A>C (p.Arg379=)
c.1291A>C (p.Arg431=)
c.1342A>C (p.Arg448=)
c.*800A>C (n.*800A>C)
c.1319A>C (n.1319A>C)
c.1213A>C (p.Arg405=)
c.*56A>C (n.*56A>C)
c.1219A>C (p.Arg407=)
c.1195A>C (p.Arg399=)
c.1261A>C (p.Arg421=)
c.778A>C (p.Arg260=)
c.802A>C (p.Arg268=)
5g.162153162A>GCA362183412GABRG2c.1223A>G
c.1318A>G (p.Arg440Gly)
c.1281A>G
n.476A>G
c.913A>G (p.Arg305Gly)
c.937A>G (p.Arg313Gly)
c.*3819A>G (n.*3819A>G)
c.1099A>G
c.589A>G (p.Arg197Gly)
c.1198A>G (p.Arg400Gly)
c.1222A>G (p.Arg408Gly)
c.1885A>G (n.1885A>G)
c.*1403A>G (n.*1403A>G)
c.*422A>G (n.*422A>G)
c.1156A>G (p.Arg386Gly)
c.1132A>G (p.Arg378Gly)
n.496A>G
n.6169A>G
c.660A>G
c.1135A>G (p.Arg379Gly)
c.1291A>G (p.Arg431Gly)
c.1342A>G (p.Arg448Gly)
c.*800A>G (n.*800A>G)
c.1319A>G (n.1319A>G)
c.1213A>G (p.Arg405Gly)
c.*56A>G (n.*56A>G)
c.1219A>G (p.Arg407Gly)
c.1195A>G (p.Arg399Gly)
c.1261A>G (p.Arg421Gly)
c.778A>G (p.Arg260Gly)
c.802A>G (p.Arg268Gly)
 ClinVar
5g.162153162A>TCA362183410GABRG2c.1223A>T
c.1318A>T (p.Arg440Ter)
c.1281A>T
n.476A>T
c.913A>T (p.Arg305Ter)
c.937A>T (p.Arg313Ter)
c.*3819A>T (n.*3819A>T)
c.1099A>T
c.589A>T (p.Arg197Ter)
c.1198A>T (p.Arg400Ter)
c.1222A>T (p.Arg408Ter)
c.1885A>T (n.1885A>T)
c.*1403A>T (n.*1403A>T)
c.*422A>T (n.*422A>T)
c.1156A>T (p.Arg386Ter)
c.1132A>T (p.Arg378Ter)
n.496A>T
n.6169A>T
c.660A>T
c.1135A>T (p.Arg379Ter)
c.1291A>T (p.Arg431Ter)
c.1342A>T (p.Arg448Ter)
c.*800A>T (n.*800A>T)
c.1319A>T (n.1319A>T)
c.1213A>T (p.Arg405Ter)
c.*56A>T (n.*56A>T)
c.1219A>T (p.Arg407Ter)
c.1195A>T (p.Arg399Ter)
c.1261A>T (p.Arg421Ter)
c.778A>T (p.Arg260Ter)
c.802A>T (p.Arg268Ter)
 COSMIC
5g.162153163G>ACA362183416GABRG2c.1224G>A
c.1319G>A (p.Arg440Lys)
c.1282G>A
n.477G>A
c.914G>A (p.Arg305Lys)
c.938G>A (p.Arg313Lys)
c.*3820G>A (n.*3820G>A)
c.1100G>A
c.590G>A (p.Arg197Lys)
c.1199G>A (p.Arg400Lys)
c.1223G>A (p.Arg408Lys)
c.1886G>A (n.1886G>A)
c.*1404G>A (n.*1404G>A)
c.*423G>A (n.*423G>A)
c.1157G>A (p.Arg386Lys)
c.1133G>A (p.Arg378Lys)
n.497G>A
n.6170G>A
c.661G>A
c.1136G>A (p.Arg379Lys)
c.1292G>A (p.Arg431Lys)
c.1343G>A (p.Arg448Lys)
c.*801G>A (n.*801G>A)
c.1320G>A (n.1320G>A)
c.1214G>A (p.Arg405Lys)
c.*57G>A (n.*57G>A)
c.1220G>A (p.Arg407Lys)
c.1196G>A (p.Arg399Lys)
c.1262G>A (p.Arg421Lys)
c.779G>A (p.Arg260Lys)
c.803G>A (p.Arg268Lys)
5g.162153163G>CCA362183418GABRG2c.1224G>C
c.1319G>C (p.Arg440Thr)
c.1282G>C
n.477G>C
c.914G>C (p.Arg305Thr)
c.938G>C (p.Arg313Thr)
c.*3820G>C (n.*3820G>C)
c.1100G>C
c.590G>C (p.Arg197Thr)
c.1199G>C (p.Arg400Thr)
c.1223G>C (p.Arg408Thr)
c.1886G>C (n.1886G>C)
c.*1404G>C (n.*1404G>C)
c.*423G>C (n.*423G>C)
c.1157G>C (p.Arg386Thr)
c.1133G>C (p.Arg378Thr)
n.497G>C
n.6170G>C
c.661G>C
c.1136G>C (p.Arg379Thr)
c.1292G>C (p.Arg431Thr)
c.1343G>C (p.Arg448Thr)
c.*801G>C (n.*801G>C)
c.1320G>C (n.1320G>C)
c.1214G>C (p.Arg405Thr)
c.*57G>C (n.*57G>C)
c.1220G>C (p.Arg407Thr)
c.1196G>C (p.Arg399Thr)
c.1262G>C (p.Arg421Thr)
c.779G>C (p.Arg260Thr)
c.803G>C (p.Arg268Thr)
 dbSNP gnomAD v2 gnomAD v4
5g.162153163G=CA1596382020GABRG2c.1224G=
c.1319G= (p.Arg440=)
c.1282G=
n.477G=
c.914G= (p.Arg305=)
c.938G= (p.Arg313=)
c.*3820G= (n.*3820G=)
c.1100G=
c.590G= (p.Arg197=)
c.1199G= (p.Arg400=)
c.1223G= (p.Arg408=)
c.1886G= (n.1886G=)
c.*1404G= (n.*1404G=)
c.*423G= (n.*423G=)
c.1157G= (p.Arg386=)
c.1133G= (p.Arg378=)
n.497G=
n.6170G=
c.661G=
c.1136G= (p.Arg379=)
c.1292G= (p.Arg431=)
c.1343G= (p.Arg448=)
c.*801G= (n.*801G=)
c.1320G= (n.1320G=)
c.1214G= (p.Arg405=)
c.*57G= (n.*57G=)
c.1220G= (p.Arg407=)
c.1196G= (p.Arg399=)
c.1262G= (p.Arg421=)
c.779G= (p.Arg260=)
c.803G= (p.Arg268=)
5g.162153163G>TCA362183421GABRG2c.1224G>T
c.1319G>T (p.Arg440Ile)
c.1282G>T
n.477G>T
c.914G>T (p.Arg305Ile)
c.938G>T (p.Arg313Ile)
c.*3820G>T (n.*3820G>T)
c.1100G>T
c.590G>T (p.Arg197Ile)
c.1199G>T (p.Arg400Ile)
c.1223G>T (p.Arg408Ile)
c.1886G>T (n.1886G>T)
c.*1404G>T (n.*1404G>T)
c.*423G>T (n.*423G>T)
c.1157G>T (p.Arg386Ile)
c.1133G>T (p.Arg378Ile)
n.497G>T
n.6170G>T
c.661G>T
c.1136G>T (p.Arg379Ile)
c.1292G>T (p.Arg431Ile)
c.1343G>T (p.Arg448Ile)
c.*801G>T (n.*801G>T)
c.1320G>T (n.1320G>T)
c.1214G>T (p.Arg405Ile)
c.*57G>T (n.*57G>T)
c.1220G>T (p.Arg407Ile)
c.1196G>T (p.Arg399Ile)
c.1262G>T (p.Arg421Ile)
c.779G>T (p.Arg260Ile)
c.803G>T (p.Arg268Ile)
5g.162153164A>CCA362183423GABRG2c.1225A>C
c.1320A>C (p.Arg440Ser)
c.1283A>C
n.478A>C
c.915A>C (p.Arg305Ser)
c.939A>C (p.Arg313Ser)
c.*3821A>C (n.*3821A>C)
c.1101A>C
c.591A>C (p.Arg197Ser)
c.1200A>C (p.Arg400Ser)
c.1224A>C (p.Arg408Ser)
c.1887A>C (n.1887A>C)
c.*1405A>C (n.*1405A>C)
c.*424A>C (n.*424A>C)
c.1158A>C (p.Arg386Ser)
c.1134A>C (p.Arg378Ser)
n.498A>C
n.6171A>C
c.662A>C
c.1137A>C (p.Arg379Ser)
c.1293A>C (p.Arg431Ser)
c.1344A>C (p.Arg448Ser)
c.*802A>C (n.*802A>C)
c.1321A>C (n.1321A>C)
c.1215A>C (p.Arg405Ser)
c.*58A>C (n.*58A>C)
c.1221A>C (p.Arg407Ser)
c.1197A>C (p.Arg399Ser)
c.1263A>C (p.Arg421Ser)
c.780A>C (p.Arg260Ser)
c.804A>C (p.Arg268Ser)
5g.162153164A>GCA447691743GABRG2c.1225A>G
c.1320A>G (p.Arg440=)
c.1283A>G
n.478A>G
c.915A>G (p.Arg305=)
c.939A>G (p.Arg313=)
c.*3821A>G (n.*3821A>G)
c.1101A>G
c.591A>G (p.Arg197=)
c.1200A>G (p.Arg400=)
c.1224A>G (p.Arg408=)
c.1887A>G (n.1887A>G)
c.*1405A>G (n.*1405A>G)
c.*424A>G (n.*424A>G)
c.1158A>G (p.Arg386=)
c.1134A>G (p.Arg378=)
n.498A>G
n.6171A>G
c.662A>G
c.1137A>G (p.Arg379=)
c.1293A>G (p.Arg431=)
c.1344A>G (p.Arg448=)
c.*802A>G (n.*802A>G)
c.1321A>G (n.1321A>G)
c.1215A>G (p.Arg405=)
c.*58A>G (n.*58A>G)
c.1221A>G (p.Arg407=)
c.1197A>G (p.Arg399=)
c.1263A>G (p.Arg421=)
c.780A>G (p.Arg260=)
c.804A>G (p.Arg268=)
5g.162153164A>TCA362183426GABRG2c.1225A>T
c.1320A>T (p.Arg440Ser)
c.1283A>T
n.478A>T
c.915A>T (p.Arg305Ser)
c.939A>T (p.Arg313Ser)
c.*3821A>T (n.*3821A>T)
c.1101A>T
c.591A>T (p.Arg197Ser)
c.1200A>T (p.Arg400Ser)
c.1224A>T (p.Arg408Ser)
c.1887A>T (n.1887A>T)
c.*1405A>T (n.*1405A>T)
c.*424A>T (n.*424A>T)
c.1158A>T (p.Arg386Ser)
c.1134A>T (p.Arg378Ser)
n.498A>T
n.6171A>T
c.662A>T
c.1137A>T (p.Arg379Ser)
c.1293A>T (p.Arg431Ser)
c.1344A>T (p.Arg448Ser)
c.*802A>T (n.*802A>T)
c.1321A>T (n.1321A>T)
c.1215A>T (p.Arg405Ser)
c.*58A>T (n.*58A>T)
c.1221A>T (p.Arg407Ser)
c.1197A>T (p.Arg399Ser)
c.1263A>T (p.Arg421Ser)
c.780A>T (p.Arg260Ser)
c.804A>T (p.Arg268Ser)
5g.162153164_162153165insCACA2499217758GABRG2c.1225_1226insCA
c.1320_1321insCA (p.Asp441GlnfsTer?)
c.1283_1284insCA
n.478_479insCA
c.915_916insCA (p.Asp306GlnfsTer?)
c.939_940insCA (p.Asp314GlnfsTer?)
c.*3821_*3822insCA (n.*3821_*3822insCA)
c.1101_1102insCA
c.591_592insCA (p.Asp198GlnfsTer?)
c.1200_1201insCA (p.Asp401GlnfsTer?)
c.1224_1225insCA (p.Asp409GlnfsTer?)
c.1887_1888insCA (n.1887_1888insCA)
c.*1405_*1406insCA (n.*1405_*1406insCA)
c.*424_*425insCA (n.*424_*425insCA)
c.1158_1159insCA (p.Asp387GlnfsTer?)
c.1134_1135insCA (p.Asp379GlnfsTer?)
n.498_499insCA
n.6171_6172insCA
c.662_663insCA
c.1137_1138insCA (p.Asp380GlnfsTer?)
c.1293_1294insCA (p.Asp432GlnfsTer?)
c.1344_1345insCA (p.Asp449GlnfsTer?)
c.*802_*803insCA (n.*802_*803insCA)
c.1321_1322insCA (n.1321_1322insCA)
c.1215_1216insCA (p.Asp406GlnfsTer?)
c.*58_*59insCA (n.*58_*59insCA)
c.1221_1222insCA (p.Asp408GlnfsTer?)
c.1197_1198insCA (p.Asp400GlnfsTer?)
c.1263_1264insCA (p.Asp422GlnfsTer?)
c.780_781insCA (p.Asp261GlnfsTer?)
c.804_805insCA (p.Asp269GlnfsTer?)
 ClinVar dbSNP
5g.162153165G>ACA362183428GABRG2c.1226G>A
c.1321G>A (p.Asp441Asn)
c.1284G>A
n.479G>A
c.916G>A (p.Asp306Asn)
c.940G>A (p.Asp314Asn)
c.*3822G>A (n.*3822G>A)
c.1102G>A
c.592G>A (p.Asp198Asn)
c.1201G>A (p.Asp401Asn)
c.1225G>A (p.Asp409Asn)
c.1888G>A (n.1888G>A)
c.*1406G>A (n.*1406G>A)
c.*425G>A (n.*425G>A)
c.1159G>A (p.Asp387Asn)
c.1135G>A (p.Asp379Asn)
n.499G>A
n.6172G>A
c.663G>A
c.1138G>A (p.Asp380Asn)
c.1294G>A (p.Asp432Asn)
c.1345G>A (p.Asp449Asn)
c.*803G>A (n.*803G>A)
c.1322G>A (n.1322G>A)
c.1216G>A (p.Asp406Asn)
c.*59G>A (n.*59G>A)
c.1222G>A (p.Asp408Asn)
c.1198G>A (p.Asp400Asn)
c.1264G>A (p.Asp422Asn)
c.781G>A (p.Asp261Asn)
c.805G>A (p.Asp269Asn)
5g.162153165G>CCA362183431GABRG2c.1226G>C
c.1321G>C (p.Asp441His)
c.1284G>C
n.479G>C
c.916G>C (p.Asp306His)
c.940G>C (p.Asp314His)
c.*3822G>C (n.*3822G>C)
c.1102G>C
c.592G>C (p.Asp198His)
c.1201G>C (p.Asp401His)
c.1225G>C (p.Asp409His)
c.1888G>C (n.1888G>C)
c.*1406G>C (n.*1406G>C)
c.*425G>C (n.*425G>C)
c.1159G>C (p.Asp387His)
c.1135G>C (p.Asp379His)
n.499G>C
n.6172G>C
c.663G>C
c.1138G>C (p.Asp380His)
c.1294G>C (p.Asp432His)
c.1345G>C (p.Asp449His)
c.*803G>C (n.*803G>C)
c.1322G>C (n.1322G>C)
c.1216G>C (p.Asp406His)
c.*59G>C (n.*59G>C)
c.1222G>C (p.Asp408His)
c.1198G>C (p.Asp400His)
c.1264G>C (p.Asp422His)
c.781G>C (p.Asp261His)
c.805G>C (p.Asp269His)
5g.162153165G>TCA362183433GABRG2c.1226G>T
c.1321G>T (p.Asp441Tyr)
c.1284G>T
n.479G>T
c.916G>T (p.Asp306Tyr)
c.940G>T (p.Asp314Tyr)
c.*3822G>T (n.*3822G>T)
c.1102G>T
c.592G>T (p.Asp198Tyr)
c.1201G>T (p.Asp401Tyr)
c.1225G>T (p.Asp409Tyr)
c.1888G>T (n.1888G>T)
c.*1406G>T (n.*1406G>T)
c.*425G>T (n.*425G>T)
c.1159G>T (p.Asp387Tyr)
c.1135G>T (p.Asp379Tyr)
n.499G>T
n.6172G>T
c.663G>T
c.1138G>T (p.Asp380Tyr)
c.1294G>T (p.Asp432Tyr)
c.1345G>T (p.Asp449Tyr)
c.*803G>T (n.*803G>T)
c.1322G>T (n.1322G>T)
c.1216G>T (p.Asp406Tyr)
c.*59G>T (n.*59G>T)
c.1222G>T (p.Asp408Tyr)
c.1198G>T (p.Asp400Tyr)
c.1264G>T (p.Asp422Tyr)
c.781G>T (p.Asp261Tyr)
c.805G>T (p.Asp269Tyr)
5g.162153166A>CCA362183437GABRG2c.1227A>C
c.1322A>C (p.Asp441Ala)
c.1285A>C
n.480A>C
c.917A>C (p.Asp306Ala)
c.941A>C (p.Asp314Ala)
c.*3823A>C (n.*3823A>C)
c.1103A>C
c.593A>C (p.Asp198Ala)
c.1202A>C (p.Asp401Ala)
c.1226A>C (p.Asp409Ala)
c.1889A>C (n.1889A>C)
c.*1407A>C (n.*1407A>C)
c.*426A>C (n.*426A>C)
c.1160A>C (p.Asp387Ala)
c.1136A>C (p.Asp379Ala)
n.500A>C
n.6173A>C
c.664A>C
c.1139A>C (p.Asp380Ala)
c.1295A>C (p.Asp432Ala)
c.1346A>C (p.Asp449Ala)
c.*804A>C (n.*804A>C)
c.1323A>C (n.1323A>C)
c.1217A>C (p.Asp406Ala)
c.*60A>C (n.*60A>C)
c.1223A>C (p.Asp408Ala)
c.1199A>C (p.Asp400Ala)
c.1265A>C (p.Asp422Ala)
c.782A>C (p.Asp261Ala)
c.806A>C (p.Asp269Ala)
 COSMIC
5g.162153166A>GCA362183439GABRG2c.1227A>G
c.1322A>G (p.Asp441Gly)
c.1285A>G
n.480A>G
c.917A>G (p.Asp306Gly)
c.941A>G (p.Asp314Gly)
c.*3823A>G (n.*3823A>G)
c.1103A>G
c.593A>G (p.Asp198Gly)
c.1202A>G (p.Asp401Gly)
c.1226A>G (p.Asp409Gly)
c.1889A>G (n.1889A>G)
c.*1407A>G (n.*1407A>G)
c.*426A>G (n.*426A>G)
c.1160A>G (p.Asp387Gly)
c.1136A>G (p.Asp379Gly)
n.500A>G
n.6173A>G
c.664A>G
c.1139A>G (p.Asp380Gly)
c.1295A>G (p.Asp432Gly)
c.1346A>G (p.Asp449Gly)
c.*804A>G (n.*804A>G)
c.1323A>G (n.1323A>G)
c.1217A>G (p.Asp406Gly)
c.*60A>G (n.*60A>G)
c.1223A>G (p.Asp408Gly)
c.1199A>G (p.Asp400Gly)
c.1265A>G (p.Asp422Gly)
c.782A>G (p.Asp261Gly)
c.806A>G (p.Asp269Gly)
5g.162153166A>TCA362183441GABRG2c.1227A>T
c.1322A>T (p.Asp441Val)
c.1285A>T
n.480A>T
c.917A>T (p.Asp306Val)
c.941A>T (p.Asp314Val)
c.*3823A>T (n.*3823A>T)
c.1103A>T
c.593A>T (p.Asp198Val)
c.1202A>T (p.Asp401Val)
c.1226A>T (p.Asp409Val)
c.1889A>T (n.1889A>T)
c.*1407A>T (n.*1407A>T)
c.*426A>T (n.*426A>T)
c.1160A>T (p.Asp387Val)
c.1136A>T (p.Asp379Val)
n.500A>T
n.6173A>T
c.664A>T
c.1139A>T (p.Asp380Val)
c.1295A>T (p.Asp432Val)
c.1346A>T (p.Asp449Val)
c.*804A>T (n.*804A>T)
c.1323A>T (n.1323A>T)
c.1217A>T (p.Asp406Val)
c.*60A>T (n.*60A>T)
c.1223A>T (p.Asp408Val)
c.1199A>T (p.Asp400Val)
c.1265A>T (p.Asp422Val)
c.782A>T (p.Asp261Val)
c.806A>T (p.Asp269Val)
5g.162153167T>ACA362183444GABRG2c.1228T>A
c.1323T>A (p.Asp441Glu)
c.1286T>A
n.481T>A
c.918T>A (p.Asp306Glu)
c.942T>A (p.Asp314Glu)
c.*3824T>A (n.*3824T>A)
c.1104T>A
c.594T>A (p.Asp198Glu)
c.1203T>A (p.Asp401Glu)
c.1227T>A (p.Asp409Glu)
c.1890T>A (n.1890T>A)
c.*1408T>A (n.*1408T>A)
c.*427T>A (n.*427T>A)
c.1161T>A (p.Asp387Glu)
c.1137T>A (p.Asp379Glu)
n.501T>A
n.6174T>A
c.665T>A
c.1140T>A (p.Asp380Glu)
c.1296T>A (p.Asp432Glu)
c.1347T>A (p.Asp449Glu)
c.*805T>A (n.*805T>A)
c.1324T>A (n.1324T>A)
c.1218T>A (p.Asp406Glu)
c.*61T>A (n.*61T>A)
c.1224T>A (p.Asp408Glu)
c.1200T>A (p.Asp400Glu)
c.1266T>A (p.Asp422Glu)
c.783T>A (p.Asp261Glu)
c.807T>A (p.Asp269Glu)
5g.162153167T>CCA447691747GABRG2c.1228T>C
c.1323T>C (p.Asp441=)
c.1286T>C
n.481T>C
c.918T>C (p.Asp306=)
c.942T>C (p.Asp314=)
c.*3824T>C (n.*3824T>C)
c.1104T>C
c.594T>C (p.Asp198=)
c.1203T>C (p.Asp401=)
c.1227T>C (p.Asp409=)
c.1890T>C (n.1890T>C)
c.*1408T>C (n.*1408T>C)
c.*427T>C (n.*427T>C)
c.1161T>C (p.Asp387=)
c.1137T>C (p.Asp379=)
n.501T>C
n.6174T>C
c.665T>C
c.1140T>C (p.Asp380=)
c.1296T>C (p.Asp432=)
c.1347T>C (p.Asp449=)
c.*805T>C (n.*805T>C)
c.1324T>C (n.1324T>C)
c.1218T>C (p.Asp406=)
c.*61T>C (n.*61T>C)
c.1224T>C (p.Asp408=)
c.1200T>C (p.Asp400=)
c.1266T>C (p.Asp422=)
c.783T>C (p.Asp261=)
c.807T>C (p.Asp269=)
 gnomAD v4
5g.162153167T>GCA362183447GABRG2c.1228T>G
c.1323T>G (p.Asp441Glu)
c.1286T>G
n.481T>G
c.918T>G (p.Asp306Glu)
c.942T>G (p.Asp314Glu)
c.*3824T>G (n.*3824T>G)
c.1104T>G
c.594T>G (p.Asp198Glu)
c.1203T>G (p.Asp401Glu)
c.1227T>G (p.Asp409Glu)
c.1890T>G (n.1890T>G)
c.*1408T>G (n.*1408T>G)
c.*427T>G (n.*427T>G)
c.1161T>G (p.Asp387Glu)
c.1137T>G (p.Asp379Glu)
n.501T>G
n.6174T>G
c.665T>G
c.1140T>G (p.Asp380Glu)
c.1296T>G (p.Asp432Glu)
c.1347T>G (p.Asp449Glu)
c.*805T>G (n.*805T>G)
c.1324T>G (n.1324T>G)
c.1218T>G (p.Asp406Glu)
c.*61T>G (n.*61T>G)
c.1224T>G (p.Asp408Glu)
c.1200T>G (p.Asp400Glu)
c.1266T>G (p.Asp422Glu)
c.783T>G (p.Asp261Glu)
c.807T>G (p.Asp269Glu)
5g.162153168G>ACA362183454GABRG2c.1229G>A
c.1324G>A (p.Glu442Lys)
c.1287G>A
n.482G>A
c.919G>A (p.Glu307Lys)
c.943G>A (p.Glu315Lys)
c.*3825G>A (n.*3825G>A)
c.1105G>A
c.595G>A (p.Glu199Lys)
c.1204G>A (p.Glu402Lys)
c.1228G>A (p.Glu410Lys)
c.1891G>A (n.1891G>A)
c.*1409G>A (n.*1409G>A)
c.*428G>A (n.*428G>A)
c.1162G>A (p.Glu388Lys)
c.1138G>A (p.Glu380Lys)
n.502G>A
n.6175G>A
c.666G>A
c.1141G>A (p.Glu381Lys)
c.1297G>A (p.Glu433Lys)
c.1348G>A (p.Glu450Lys)
c.*806G>A (n.*806G>A)
c.1325G>A (n.1325G>A)
c.1219G>A (p.Glu407Lys)
c.*62G>A (n.*62G>A)
c.1225G>A (p.Glu409Lys)
c.1201G>A (p.Glu401Lys)
c.1267G>A (p.Glu423Lys)
c.784G>A (p.Glu262Lys)
c.808G>A (p.Glu270Lys)
5g.162153168G>CCA362183450GABRG2c.1229G>C
c.1324G>C (p.Glu442Gln)
c.1287G>C
n.482G>C
c.919G>C (p.Glu307Gln)
c.943G>C (p.Glu315Gln)
c.*3825G>C (n.*3825G>C)
c.1105G>C
c.595G>C (p.Glu199Gln)
c.1204G>C (p.Glu402Gln)
c.1228G>C (p.Glu410Gln)
c.1891G>C (n.1891G>C)
c.*1409G>C (n.*1409G>C)
c.*428G>C (n.*428G>C)
c.1162G>C (p.Glu388Gln)
c.1138G>C (p.Glu380Gln)
n.502G>C
n.6175G>C
c.666G>C
c.1141G>C (p.Glu381Gln)
c.1297G>C (p.Glu433Gln)
c.1348G>C (p.Glu450Gln)
c.*806G>C (n.*806G>C)
c.1325G>C (n.1325G>C)
c.1219G>C (p.Glu407Gln)
c.*62G>C (n.*62G>C)
c.1225G>C (p.Glu409Gln)
c.1201G>C (p.Glu401Gln)
c.1267G>C (p.Glu423Gln)
c.784G>C (p.Glu262Gln)
c.808G>C (p.Glu270Gln)
5g.162153168G=CA1596382025GABRG2c.1229G=
c.1324G= (p.Glu442=)
c.1287G=
n.482G=
c.919G= (p.Glu307=)
c.943G= (p.Glu315=)
c.*3825G= (n.*3825G=)
c.1105G=
c.595G= (p.Glu199=)
c.1204G= (p.Glu402=)
c.1228G= (p.Glu410=)
c.1891G= (n.1891G=)
c.*1409G= (n.*1409G=)
c.*428G= (n.*428G=)
c.1162G= (p.Glu388=)
c.1138G= (p.Glu380=)
n.502G=
n.6175G=
c.666G=
c.1141G= (p.Glu381=)
c.1297G= (p.Glu433=)
c.1348G= (p.Glu450=)
c.*806G= (n.*806G=)
c.1325G= (n.1325G=)
c.1219G= (p.Glu407=)
c.*62G= (n.*62G=)
c.1225G= (p.Glu409=)
c.1201G= (p.Glu401=)
c.1267G= (p.Glu423=)
c.784G= (p.Glu262=)
c.808G= (p.Glu270=)
5g.162153168G>TCA362183452GABRG2c.1229G>T
c.1324G>T (p.Glu442Ter)
c.1287G>T
n.482G>T
c.919G>T (p.Glu307Ter)
c.943G>T (p.Glu315Ter)
c.*3825G>T (n.*3825G>T)
c.1105G>T
c.595G>T (p.Glu199Ter)
c.1204G>T (p.Glu402Ter)
c.1228G>T (p.Glu410Ter)
c.1891G>T (n.1891G>T)
c.*1409G>T (n.*1409G>T)
c.*428G>T (n.*428G>T)
c.1162G>T (p.Glu388Ter)
c.1138G>T (p.Glu380Ter)
n.502G>T
n.6175G>T
c.666G>T
c.1141G>T (p.Glu381Ter)
c.1297G>T (p.Glu433Ter)
c.1348G>T (p.Glu450Ter)
c.*806G>T (n.*806G>T)
c.1325G>T (n.1325G>T)
c.1219G>T (p.Glu407Ter)
c.*62G>T (n.*62G>T)
c.1225G>T (p.Glu409Ter)
c.1201G>T (p.Glu401Ter)
c.1267G>T (p.Glu423Ter)
c.784G>T (p.Glu262Ter)
c.808G>T (p.Glu270Ter)
 ClinVar dbSNP
5g.162153169A>CCA362183458GABRG2c.1230A>C
c.1325A>C (p.Glu442Ala)
c.1288A>C
n.483A>C
c.920A>C (p.Glu307Ala)
c.944A>C (p.Glu315Ala)
c.*3826A>C (n.*3826A>C)
c.1106A>C
c.596A>C (p.Glu199Ala)
c.1205A>C (p.Glu402Ala)
c.1229A>C (p.Glu410Ala)
c.1892A>C (n.1892A>C)
c.*1410A>C (n.*1410A>C)
c.*429A>C (n.*429A>C)
c.1163A>C (p.Glu388Ala)
c.1139A>C (p.Glu380Ala)
n.503A>C
n.6176A>C
c.667A>C
c.1142A>C (p.Glu381Ala)
c.1298A>C (p.Glu433Ala)
c.1349A>C (p.Glu450Ala)
c.*807A>C (n.*807A>C)
c.1326A>C (n.1326A>C)
c.1220A>C (p.Glu407Ala)
c.*63A>C (n.*63A>C)
c.1226A>C (p.Glu409Ala)
c.1202A>C (p.Glu401Ala)
c.1268A>C (p.Glu423Ala)
c.785A>C (p.Glu262Ala)
c.809A>C (p.Glu270Ala)
5g.162153169A>GCA362183462GABRG2c.1230A>G
c.1325A>G (p.Glu442Gly)
c.1288A>G
n.483A>G
c.920A>G (p.Glu307Gly)
c.944A>G (p.Glu315Gly)
c.*3826A>G (n.*3826A>G)
c.1106A>G
c.596A>G (p.Glu199Gly)
c.1205A>G (p.Glu402Gly)
c.1229A>G (p.Glu410Gly)
c.1892A>G (n.1892A>G)
c.*1410A>G (n.*1410A>G)
c.*429A>G (n.*429A>G)
c.1163A>G (p.Glu388Gly)
c.1139A>G (p.Glu380Gly)
n.503A>G
n.6176A>G
c.667A>G
c.1142A>G (p.Glu381Gly)
c.1298A>G (p.Glu433Gly)
c.1349A>G (p.Glu450Gly)
c.*807A>G (n.*807A>G)
c.1326A>G (n.1326A>G)
c.1220A>G (p.Glu407Gly)
c.*63A>G (n.*63A>G)
c.1226A>G (p.Glu409Gly)
c.1202A>G (p.Glu401Gly)
c.1268A>G (p.Glu423Gly)
c.785A>G (p.Glu262Gly)
c.809A>G (p.Glu270Gly)
5g.162153169A>TCA362183460GABRG2c.1230A>T
c.1325A>T (p.Glu442Val)
c.1288A>T
n.483A>T
c.920A>T (p.Glu307Val)
c.944A>T (p.Glu315Val)
c.*3826A>T (n.*3826A>T)
c.1106A>T
c.596A>T (p.Glu199Val)
c.1205A>T (p.Glu402Val)
c.1229A>T (p.Glu410Val)
c.1892A>T (n.1892A>T)
c.*1410A>T (n.*1410A>T)
c.*429A>T (n.*429A>T)
c.1163A>T (p.Glu388Val)
c.1139A>T (p.Glu380Val)
n.503A>T
n.6176A>T
c.667A>T
c.1142A>T (p.Glu381Val)
c.1298A>T (p.Glu433Val)
c.1349A>T (p.Glu450Val)
c.*807A>T (n.*807A>T)
c.1326A>T (n.1326A>T)
c.1220A>T (p.Glu407Val)
c.*63A>T (n.*63A>T)
c.1226A>T (p.Glu409Val)
c.1202A>T (p.Glu401Val)
c.1268A>T (p.Glu423Val)
c.785A>T (p.Glu262Val)
c.809A>T (p.Glu270Val)
5g.162153170A>CCA362183464GABRG2c.1231A>C
c.1326A>C (p.Glu442Asp)
c.1289A>C
n.484A>C
c.921A>C (p.Glu307Asp)
c.945A>C (p.Glu315Asp)
c.*3827A>C (n.*3827A>C)
c.1107A>C
c.597A>C (p.Glu199Asp)
c.1206A>C (p.Glu402Asp)
c.1230A>C (p.Glu410Asp)
c.1893A>C (n.1893A>C)
c.*1411A>C (n.*1411A>C)
c.*430A>C (n.*430A>C)
c.1164A>C (p.Glu388Asp)
c.1140A>C (p.Glu380Asp)
n.504A>C
n.6177A>C
c.668A>C
c.1143A>C (p.Glu381Asp)
c.1299A>C (p.Glu433Asp)
c.1350A>C (p.Glu450Asp)
c.*808A>C (n.*808A>C)
c.1327A>C (n.1327A>C)
c.1221A>C (p.Glu407Asp)
c.*64A>C (n.*64A>C)
c.1227A>C (p.Glu409Asp)
c.1203A>C (p.Glu401Asp)
c.1269A>C (p.Glu423Asp)
c.786A>C (p.Glu262Asp)
c.810A>C (p.Glu270Asp)
5g.162153170A>GCA447691749GABRG2c.1231A>G
c.1326A>G (p.Glu442=)
c.1289A>G
n.484A>G
c.921A>G (p.Glu307=)
c.945A>G (p.Glu315=)
c.*3827A>G (n.*3827A>G)
c.1107A>G
c.597A>G (p.Glu199=)
c.1206A>G (p.Glu402=)
c.1230A>G (p.Glu410=)
c.1893A>G (n.1893A>G)
c.*1411A>G (n.*1411A>G)
c.*430A>G (n.*430A>G)
c.1164A>G (p.Glu388=)
c.1140A>G (p.Glu380=)
n.504A>G
n.6177A>G
c.668A>G
c.1143A>G (p.Glu381=)
c.1299A>G (p.Glu433=)
c.1350A>G (p.Glu450=)
c.*808A>G (n.*808A>G)
c.1327A>G (n.1327A>G)
c.1221A>G (p.Glu407=)
c.*64A>G (n.*64A>G)
c.1227A>G (p.Glu409=)
c.1203A>G (p.Glu401=)
c.1269A>G (p.Glu423=)
c.786A>G (p.Glu262=)
c.810A>G (p.Glu270=)
5g.162153170A>TCA362183467GABRG2c.1231A>T
c.1326A>T (p.Glu442Asp)
c.1289A>T
n.484A>T
c.921A>T (p.Glu307Asp)
c.945A>T (p.Glu315Asp)
c.*3827A>T (n.*3827A>T)
c.1107A>T
c.597A>T (p.Glu199Asp)
c.1206A>T (p.Glu402Asp)
c.1230A>T (p.Glu410Asp)
c.1893A>T (n.1893A>T)
c.*1411A>T (n.*1411A>T)
c.*430A>T (n.*430A>T)
c.1164A>T (p.Glu388Asp)
c.1140A>T (p.Glu380Asp)
n.504A>T
n.6177A>T
c.668A>T
c.1143A>T (p.Glu381Asp)
c.1299A>T (p.Glu433Asp)
c.1350A>T (p.Glu450Asp)
c.*808A>T (n.*808A>T)
c.1327A>T (n.1327A>T)
c.1221A>T (p.Glu407Asp)
c.*64A>T (n.*64A>T)
c.1227A>T (p.Glu409Asp)
c.1203A>T (p.Glu401Asp)
c.1269A>T (p.Glu423Asp)
c.786A>T (p.Glu262Asp)
c.810A>T (p.Glu270Asp)
5g.162153170delinsTTCATCA2695205689GABRG2c.1231delinsTTCAT
c.1326delinsTTCAT (p.Glu442AspfsTer3)
c.1289delinsTTCAT
n.484delinsTTCAT
c.921delinsTTCAT (p.Glu307AspfsTer3)
c.945delinsTTCAT (p.Glu315AspfsTer3)
c.*3827delinsTTCAT (n.*3827delinsTTCAT)
c.1107delinsTTCAT
c.597delinsTTCAT (p.Glu199AspfsTer3)
c.1206delinsTTCAT (p.Glu402AspfsTer3)
c.1230delinsTTCAT (p.Glu410AspfsTer3)
c.1893delinsTTCAT (n.1893delinsTTCAT)
c.*1411delinsTTCAT (n.*1411delinsTTCAT)
c.*430delinsTTCAT (n.*430delinsTTCAT)
c.1164delinsTTCAT (p.Glu388AspfsTer3)
c.1140delinsTTCAT (p.Glu380AspfsTer3)
n.504delinsTTCAT
n.6177delinsTTCAT
c.668delinsTTCAT
c.1143delinsTTCAT (p.Glu381AspfsTer3)
c.1299delinsTTCAT (p.Glu433AspfsTer3)
c.1350delinsTTCAT (p.Glu450AspfsTer3)
c.*808delinsTTCAT (n.*808delinsTTCAT)
c.1327delinsTTCAT (n.1327delinsTTCAT)
c.1221delinsTTCAT (p.Glu407AspfsTer3)
c.*64delinsTTCAT (n.*64delinsTTCAT)
c.1227delinsTTCAT (p.Glu409AspfsTer3)
c.1203delinsTTCAT (p.Glu401AspfsTer3)
c.1269delinsTTCAT (p.Glu423AspfsTer3)
c.786delinsTTCAT (p.Glu262AspfsTer3)
c.810delinsTTCAT (p.Glu270AspfsTer3)
5g.162153171G>ACA362183470GABRG2c.1232G>A
c.1327G>A (p.Glu443Lys)
c.1290G>A
n.485G>A
c.922G>A (p.Glu308Lys)
c.946G>A (p.Glu316Lys)
c.*3828G>A (n.*3828G>A)
c.1108G>A
c.598G>A (p.Glu200Lys)
c.1207G>A (p.Glu403Lys)
c.1231G>A (p.Glu411Lys)
c.1894G>A (n.1894G>A)
c.*1412G>A (n.*1412G>A)
c.*431G>A (n.*431G>A)
c.1165G>A (p.Glu389Lys)
c.1141G>A (p.Glu381Lys)
n.505G>A
n.6178G>A
c.669G>A
c.1144G>A (p.Glu382Lys)
c.1300G>A (p.Glu434Lys)
c.1351G>A (p.Glu451Lys)
c.*809G>A (n.*809G>A)
c.1328G>A (n.1328G>A)
c.1222G>A (p.Glu408Lys)
c.*65G>A (n.*65G>A)
c.1228G>A (p.Glu410Lys)
c.1204G>A (p.Glu402Lys)
c.1270G>A (p.Glu424Lys)
c.787G>A (p.Glu263Lys)
c.811G>A (p.Glu271Lys)
5g.162153171G>CCA362183472GABRG2c.1232G>C
c.1327G>C (p.Glu443Gln)
c.1290G>C
n.485G>C
c.922G>C (p.Glu308Gln)
c.946G>C (p.Glu316Gln)
c.*3828G>C (n.*3828G>C)
c.1108G>C
c.598G>C (p.Glu200Gln)
c.1207G>C (p.Glu403Gln)
c.1231G>C (p.Glu411Gln)
c.1894G>C (n.1894G>C)
c.*1412G>C (n.*1412G>C)
c.*431G>C (n.*431G>C)
c.1165G>C (p.Glu389Gln)
c.1141G>C (p.Glu381Gln)
n.505G>C
n.6178G>C
c.669G>C
c.1144G>C (p.Glu382Gln)
c.1300G>C (p.Glu434Gln)
c.1351G>C (p.Glu451Gln)
c.*809G>C (n.*809G>C)
c.1328G>C (n.1328G>C)
c.1222G>C (p.Glu408Gln)
c.*65G>C (n.*65G>C)
c.1228G>C (p.Glu410Gln)
c.1204G>C (p.Glu402Gln)
c.1270G>C (p.Glu424Gln)
c.787G>C (p.Glu263Gln)
c.811G>C (p.Glu271Gln)
5g.162153171G>TCA362183474GABRG2c.1232G>T
c.1327G>T (p.Glu443Ter)
c.1290G>T
n.485G>T
c.922G>T (p.Glu308Ter)
c.946G>T (p.Glu316Ter)
c.*3828G>T (n.*3828G>T)
c.1108G>T
c.598G>T (p.Glu200Ter)
c.1207G>T (p.Glu403Ter)
c.1231G>T (p.Glu411Ter)
c.1894G>T (n.1894G>T)
c.*1412G>T (n.*1412G>T)
c.*431G>T (n.*431G>T)
c.1165G>T (p.Glu389Ter)
c.1141G>T (p.Glu381Ter)
n.505G>T
n.6178G>T
c.669G>T
c.1144G>T (p.Glu382Ter)
c.1300G>T (p.Glu434Ter)
c.1351G>T (p.Glu451Ter)
c.*809G>T (n.*809G>T)
c.1328G>T (n.1328G>T)
c.1222G>T (p.Glu408Ter)
c.*65G>T (n.*65G>T)
c.1228G>T (p.Glu410Ter)
c.1204G>T (p.Glu402Ter)
c.1270G>T (p.Glu424Ter)
c.787G>T (p.Glu263Ter)
c.811G>T (p.Glu271Ter)
 ClinVar
5g.162153172A>CCA362183477GABRG2c.1233A>C
c.1328A>C (p.Glu443Ala)
c.1291A>C
n.486A>C
c.923A>C (p.Glu308Ala)
c.947A>C (p.Glu316Ala)
c.*3829A>C (n.*3829A>C)
c.1109A>C
c.599A>C (p.Glu200Ala)
c.1208A>C (p.Glu403Ala)
c.1232A>C (p.Glu411Ala)
c.1895A>C (n.1895A>C)
c.*1413A>C (n.*1413A>C)
c.*432A>C (n.*432A>C)
c.1166A>C (p.Glu389Ala)
c.1142A>C (p.Glu381Ala)
n.506A>C
n.6179A>C
c.670A>C
c.1145A>C (p.Glu382Ala)
c.1301A>C (p.Glu434Ala)
c.1352A>C (p.Glu451Ala)
c.*810A>C (n.*810A>C)
c.1329A>C (n.1329A>C)
c.1223A>C (p.Glu408Ala)
c.*66A>C (n.*66A>C)
c.1229A>C (p.Glu410Ala)
c.1205A>C (p.Glu402Ala)
c.1271A>C (p.Glu424Ala)
c.788A>C (p.Glu263Ala)
c.812A>C (p.Glu271Ala)
5g.162153172A>GCA362183478GABRG2c.1233A>G
c.1328A>G (p.Glu443Gly)
c.1291A>G
n.486A>G
c.923A>G (p.Glu308Gly)
c.947A>G (p.Glu316Gly)
c.*3829A>G (n.*3829A>G)
c.1109A>G
c.599A>G (p.Glu200Gly)
c.1208A>G (p.Glu403Gly)
c.1232A>G (p.Glu411Gly)
c.1895A>G (n.1895A>G)
c.*1413A>G (n.*1413A>G)
c.*432A>G (n.*432A>G)
c.1166A>G (p.Glu389Gly)
c.1142A>G (p.Glu381Gly)
n.506A>G
n.6179A>G
c.670A>G
c.1145A>G (p.Glu382Gly)
c.1301A>G (p.Glu434Gly)
c.1352A>G (p.Glu451Gly)
c.*810A>G (n.*810A>G)
c.1329A>G (n.1329A>G)
c.1223A>G (p.Glu408Gly)
c.*66A>G (n.*66A>G)
c.1229A>G (p.Glu410Gly)
c.1205A>G (p.Glu402Gly)
c.1271A>G (p.Glu424Gly)
c.788A>G (p.Glu263Gly)
c.812A>G (p.Glu271Gly)
5g.162153172A>TCA362183481GABRG2c.1233A>T
c.1328A>T (p.Glu443Val)
c.1291A>T
n.486A>T
c.923A>T (p.Glu308Val)
c.947A>T (p.Glu316Val)
c.*3829A>T (n.*3829A>T)
c.1109A>T
c.599A>T (p.Glu200Val)
c.1208A>T (p.Glu403Val)
c.1232A>T (p.Glu411Val)
c.1895A>T (n.1895A>T)
c.*1413A>T (n.*1413A>T)
c.*432A>T (n.*432A>T)
c.1166A>T (p.Glu389Val)
c.1142A>T (p.Glu381Val)
n.506A>T
n.6179A>T
c.670A>T
c.1145A>T (p.Glu382Val)
c.1301A>T (p.Glu434Val)
c.1352A>T (p.Glu451Val)
c.*810A>T (n.*810A>T)
c.1329A>T (n.1329A>T)
c.1223A>T (p.Glu408Val)
c.*66A>T (n.*66A>T)
c.1229A>T (p.Glu410Val)
c.1205A>T (p.Glu402Val)
c.1271A>T (p.Glu424Val)
c.788A>T (p.Glu263Val)
c.812A>T (p.Glu271Val)
5g.162153173G>ACA447691754GABRG2c.1234G>A
c.1329G>A (p.Glu443=)
c.1292G>A
n.487G>A
c.924G>A (p.Glu308=)
c.948G>A (p.Glu316=)
c.*3830G>A (n.*3830G>A)
c.1110G>A
c.600G>A (p.Glu200=)
c.1209G>A (p.Glu403=)
c.1233G>A (p.Glu411=)
c.1896G>A (n.1896G>A)
c.*1414G>A (n.*1414G>A)
c.*433G>A (n.*433G>A)
c.1167G>A (p.Glu389=)
c.1143G>A (p.Glu381=)
n.507G>A
n.6180G>A
c.671G>A
c.1146G>A (p.Glu382=)
c.1302G>A (p.Glu434=)
c.1353G>A (p.Glu451=)
c.*811G>A (n.*811G>A)
c.1330G>A (n.1330G>A)
c.1224G>A (p.Glu408=)
c.*67G>A (n.*67G>A)
c.1230G>A (p.Glu410=)
c.1206G>A (p.Glu402=)
c.1272G>A (p.Glu424=)
c.789G>A (p.Glu263=)
c.813G>A (p.Glu271=)
 dbSNP gnomAD v2 gnomAD v4
5g.162153173G>CCA362183484GABRG2c.1234G>C
c.1329G>C (p.Glu443Asp)
c.1292G>C
n.487G>C
c.924G>C (p.Glu308Asp)
c.948G>C (p.Glu316Asp)
c.*3830G>C (n.*3830G>C)
c.1110G>C
c.600G>C (p.Glu200Asp)
c.1209G>C (p.Glu403Asp)
c.1233G>C (p.Glu411Asp)
c.1896G>C (n.1896G>C)
c.*1414G>C (n.*1414G>C)
c.*433G>C (n.*433G>C)
c.1167G>C (p.Glu389Asp)
c.1143G>C (p.Glu381Asp)
n.507G>C
n.6180G>C
c.671G>C
c.1146G>C (p.Glu382Asp)
c.1302G>C (p.Glu434Asp)
c.1353G>C (p.Glu451Asp)
c.*811G>C (n.*811G>C)
c.1330G>C (n.1330G>C)
c.1224G>C (p.Glu408Asp)
c.*67G>C (n.*67G>C)
c.1230G>C (p.Glu410Asp)
c.1206G>C (p.Glu402Asp)
c.1272G>C (p.Glu424Asp)
c.789G>C (p.Glu263Asp)
c.813G>C (p.Glu271Asp)
5g.162153173G=CA1596382034GABRG2c.1234G=
c.1329G= (p.Glu443=)
c.1292G=
n.487G=
c.924G= (p.Glu308=)
c.948G= (p.Glu316=)
c.*3830G= (n.*3830G=)
c.1110G=
c.600G= (p.Glu200=)
c.1209G= (p.Glu403=)
c.1233G= (p.Glu411=)
c.1896G= (n.1896G=)
c.*1414G= (n.*1414G=)
c.*433G= (n.*433G=)
c.1167G= (p.Glu389=)
c.1143G= (p.Glu381=)
n.507G=
n.6180G=
c.671G=
c.1146G= (p.Glu382=)
c.1302G= (p.Glu434=)
c.1353G= (p.Glu451=)
c.*811G= (n.*811G=)
c.1330G= (n.1330G=)
c.1224G= (p.Glu408=)
c.*67G= (n.*67G=)
c.1230G= (p.Glu410=)
c.1206G= (p.Glu402=)
c.1272G= (p.Glu424=)
c.789G= (p.Glu263=)
c.813G= (p.Glu271=)
5g.162153173G>TCA362183486GABRG2c.1234G>T
c.1329G>T (p.Glu443Asp)
c.1292G>T
n.487G>T
c.924G>T (p.Glu308Asp)
c.948G>T (p.Glu316Asp)
c.*3830G>T (n.*3830G>T)
c.1110G>T
c.600G>T (p.Glu200Asp)
c.1209G>T (p.Glu403Asp)
c.1233G>T (p.Glu411Asp)
c.1896G>T (n.1896G>T)
c.*1414G>T (n.*1414G>T)
c.*433G>T (n.*433G>T)
c.1167G>T (p.Glu389Asp)
c.1143G>T (p.Glu381Asp)
n.507G>T
n.6180G>T
c.671G>T
c.1146G>T (p.Glu382Asp)
c.1302G>T (p.Glu434Asp)
c.1353G>T (p.Glu451Asp)
c.*811G>T (n.*811G>T)
c.1330G>T (n.1330G>T)
c.1224G>T (p.Glu408Asp)
c.*67G>T (n.*67G>T)
c.1230G>T (p.Glu410Asp)
c.1206G>T (p.Glu402Asp)
c.1272G>T (p.Glu424Asp)
c.789G>T (p.Glu263Asp)
c.813G>T (p.Glu271Asp)
5g.162153174T>ACA362183494GABRG2c.1235T>A
c.1330T>A (p.Tyr444Asn)
c.1293T>A
n.488T>A
c.925T>A (p.Tyr309Asn)
c.949T>A (p.Tyr317Asn)
c.*3831T>A (n.*3831T>A)
c.1111T>A
c.601T>A (p.Tyr201Asn)
c.1210T>A (p.Tyr404Asn)
c.1234T>A (p.Tyr412Asn)
c.1897T>A (n.1897T>A)
c.*1415T>A (n.*1415T>A)
c.*434T>A (n.*434T>A)
c.1168T>A (p.Tyr390Asn)
c.1144T>A (p.Tyr382Asn)
n.508T>A
n.6181T>A
c.672T>A
c.1147T>A (p.Tyr383Asn)
c.1303T>A (p.Tyr435Asn)
c.1354T>A (p.Tyr452Asn)
c.*812T>A (n.*812T>A)
c.1331T>A (n.1331T>A)
c.1225T>A (p.Tyr409Asn)
c.*68T>A (n.*68T>A)
c.1231T>A (p.Tyr411Asn)
c.1207T>A (p.Tyr403Asn)
c.1273T>A (p.Tyr425Asn)
c.790T>A (p.Tyr264Asn)
c.814T>A (p.Tyr272Asn)
5g.162153174T>CCA362183492GABRG2c.1235T>C
c.1330T>C (p.Tyr444His)
c.1293T>C
n.488T>C
c.925T>C (p.Tyr309His)
c.949T>C (p.Tyr317His)
c.*3831T>C (n.*3831T>C)
c.1111T>C
c.601T>C (p.Tyr201His)
c.1210T>C (p.Tyr404His)
c.1234T>C (p.Tyr412His)
c.1897T>C (n.1897T>C)
c.*1415T>C (n.*1415T>C)
c.*434T>C (n.*434T>C)
c.1168T>C (p.Tyr390His)
c.1144T>C (p.Tyr382His)
n.508T>C
n.6181T>C
c.672T>C
c.1147T>C (p.Tyr383His)
c.1303T>C (p.Tyr435His)
c.1354T>C (p.Tyr452His)
c.*812T>C (n.*812T>C)
c.1331T>C (n.1331T>C)
c.1225T>C (p.Tyr409His)
c.*68T>C (n.*68T>C)
c.1231T>C (p.Tyr411His)
c.1207T>C (p.Tyr403His)
c.1273T>C (p.Tyr425His)
c.790T>C (p.Tyr264His)
c.814T>C (p.Tyr272His)
5g.162153174T>GCA362183489GABRG2c.1235T>G
c.1330T>G (p.Tyr444Asp)
c.1293T>G
n.488T>G
c.925T>G (p.Tyr309Asp)
c.949T>G (p.Tyr317Asp)
c.*3831T>G (n.*3831T>G)
c.1111T>G
c.601T>G (p.Tyr201Asp)
c.1210T>G (p.Tyr404Asp)
c.1234T>G (p.Tyr412Asp)
c.1897T>G (n.1897T>G)
c.*1415T>G (n.*1415T>G)
c.*434T>G (n.*434T>G)
c.1168T>G (p.Tyr390Asp)
c.1144T>G (p.Tyr382Asp)
n.508T>G
n.6181T>G
c.672T>G
c.1147T>G (p.Tyr383Asp)
c.1303T>G (p.Tyr435Asp)
c.1354T>G (p.Tyr452Asp)
c.*812T>G (n.*812T>G)
c.1331T>G (n.1331T>G)
c.1225T>G (p.Tyr409Asp)
c.*68T>G (n.*68T>G)
c.1231T>G (p.Tyr411Asp)
c.1207T>G (p.Tyr403Asp)
c.1273T>G (p.Tyr425Asp)
c.790T>G (p.Tyr264Asp)
c.814T>G (p.Tyr272Asp)
5g.162153175A>CCA362183497GABRG2c.1236A>C
c.1331A>C (p.Tyr444Ser)
c.1294A>C
n.489A>C
c.926A>C (p.Tyr309Ser)
c.950A>C (p.Tyr317Ser)
c.*3832A>C (n.*3832A>C)
c.1112A>C
c.602A>C (p.Tyr201Ser)
c.1211A>C (p.Tyr404Ser)
c.1235A>C (p.Tyr412Ser)
c.1898A>C (n.1898A>C)
c.*1416A>C (n.*1416A>C)
c.*435A>C (n.*435A>C)
c.1169A>C (p.Tyr390Ser)
c.1145A>C (p.Tyr382Ser)
n.509A>C
n.6182A>C
c.673A>C
c.1148A>C (p.Tyr383Ser)
c.1304A>C (p.Tyr435Ser)
c.1355A>C (p.Tyr452Ser)
c.*813A>C (n.*813A>C)
c.1332A>C (n.1332A>C)
c.1226A>C (p.Tyr409Ser)
c.*69A>C (n.*69A>C)
c.1232A>C (p.Tyr411Ser)
c.1208A>C (p.Tyr403Ser)
c.1274A>C (p.Tyr425Ser)
c.791A>C (p.Tyr264Ser)
c.815A>C (p.Tyr272Ser)
5g.162153175A>GCA362183499GABRG2c.1236A>G
c.1331A>G (p.Tyr444Cys)
c.1294A>G
n.489A>G
c.926A>G (p.Tyr309Cys)
c.950A>G (p.Tyr317Cys)
c.*3832A>G (n.*3832A>G)
c.1112A>G
c.602A>G (p.Tyr201Cys)
c.1211A>G (p.Tyr404Cys)
c.1235A>G (p.Tyr412Cys)
c.1898A>G (n.1898A>G)
c.*1416A>G (n.*1416A>G)
c.*435A>G (n.*435A>G)
c.1169A>G (p.Tyr390Cys)
c.1145A>G (p.Tyr382Cys)
n.509A>G
n.6182A>G
c.673A>G
c.1148A>G (p.Tyr383Cys)
c.1304A>G (p.Tyr435Cys)
c.1355A>G (p.Tyr452Cys)
c.*813A>G (n.*813A>G)
c.1332A>G (n.1332A>G)
c.1226A>G (p.Tyr409Cys)
c.*69A>G (n.*69A>G)
c.1232A>G (p.Tyr411Cys)
c.1208A>G (p.Tyr403Cys)
c.1274A>G (p.Tyr425Cys)
c.791A>G (p.Tyr264Cys)
c.815A>G (p.Tyr272Cys)
5g.162153175A>TCA362183501GABRG2c.1236A>T
c.1331A>T (p.Tyr444Phe)
c.1294A>T
n.489A>T
c.926A>T (p.Tyr309Phe)
c.950A>T (p.Tyr317Phe)
c.*3832A>T (n.*3832A>T)
c.1112A>T
c.602A>T (p.Tyr201Phe)
c.1211A>T (p.Tyr404Phe)
c.1235A>T (p.Tyr412Phe)
c.1898A>T (n.1898A>T)
c.*1416A>T (n.*1416A>T)
c.*435A>T (n.*435A>T)
c.1169A>T (p.Tyr390Phe)
c.1145A>T (p.Tyr382Phe)
n.509A>T
n.6182A>T
c.673A>T
c.1148A>T (p.Tyr383Phe)
c.1304A>T (p.Tyr435Phe)
c.1355A>T (p.Tyr452Phe)
c.*813A>T (n.*813A>T)
c.1332A>T (n.1332A>T)
c.1226A>T (p.Tyr409Phe)
c.*69A>T (n.*69A>T)
c.1232A>T (p.Tyr411Phe)
c.1208A>T (p.Tyr403Phe)
c.1274A>T (p.Tyr425Phe)
c.791A>T (p.Tyr264Phe)
c.815A>T (p.Tyr272Phe)
5g.162153176C>ACA362183505GABRG2c.1237C>A
c.1332C>A (p.Tyr444Ter)
c.1295C>A
n.490C>A
c.927C>A (p.Tyr309Ter)
c.951C>A (p.Tyr317Ter)
c.*3833C>A (n.*3833C>A)
c.1113C>A
c.603C>A (p.Tyr201Ter)
c.1212C>A (p.Tyr404Ter)
c.1236C>A (p.Tyr412Ter)
c.1899C>A (n.1899C>A)
c.*1417C>A (n.*1417C>A)
c.*436C>A (n.*436C>A)
c.1170C>A (p.Tyr390Ter)
c.1146C>A (p.Tyr382Ter)
n.510C>A
n.6183C>A
c.674C>A
c.1149C>A (p.Tyr383Ter)
c.1305C>A (p.Tyr435Ter)
c.1356C>A (p.Tyr452Ter)
c.*814C>A (n.*814C>A)
c.1333C>A (n.1333C>A)
c.1227C>A (p.Tyr409Ter)
c.*70C>A (n.*70C>A)
c.1233C>A (p.Tyr411Ter)
c.1209C>A (p.Tyr403Ter)
c.1275C>A (p.Tyr425Ter)
c.792C>A (p.Tyr264Ter)
c.816C>A (p.Tyr272Ter)
 ClinVar
5g.162153176C=CA1596382042GABRG2c.1237C=
c.1332C= (p.Tyr444=)
c.1295C=
n.490C=
c.927C= (p.Tyr309=)
c.951C= (p.Tyr317=)
c.*3833C= (n.*3833C=)
c.1113C=
c.603C= (p.Tyr201=)
c.1212C= (p.Tyr404=)
c.1236C= (p.Tyr412=)
c.1899C= (n.1899C=)
c.*1417C= (n.*1417C=)
c.*436C= (n.*436C=)
c.1170C= (p.Tyr390=)
c.1146C= (p.Tyr382=)
n.510C=
n.6183C=
c.674C=
c.1149C= (p.Tyr383=)
c.1305C= (p.Tyr435=)
c.1356C= (p.Tyr452=)
c.*814C= (n.*814C=)
c.1333C= (n.1333C=)
c.1227C= (p.Tyr409=)
c.*70C= (n.*70C=)
c.1233C= (p.Tyr411=)
c.1209C= (p.Tyr403=)
c.1275C= (p.Tyr425=)
c.792C= (p.Tyr264=)
c.816C= (p.Tyr272=)
5g.162153176C>GCA362183507GABRG2c.1237C>G
c.1332C>G (p.Tyr444Ter)
c.1295C>G
n.490C>G
c.927C>G (p.Tyr309Ter)
c.951C>G (p.Tyr317Ter)
c.*3833C>G (n.*3833C>G)
c.1113C>G
c.603C>G (p.Tyr201Ter)
c.1212C>G (p.Tyr404Ter)
c.1236C>G (p.Tyr412Ter)
c.1899C>G (n.1899C>G)
c.*1417C>G (n.*1417C>G)
c.*436C>G (n.*436C>G)
c.1170C>G (p.Tyr390Ter)
c.1146C>G (p.Tyr382Ter)
n.510C>G
n.6183C>G
c.674C>G
c.1149C>G (p.Tyr383Ter)
c.1305C>G (p.Tyr435Ter)
c.1356C>G (p.Tyr452Ter)
c.*814C>G (n.*814C>G)
c.1333C>G (n.1333C>G)
c.1227C>G (p.Tyr409Ter)
c.*70C>G (n.*70C>G)
c.1233C>G (p.Tyr411Ter)
c.1209C>G (p.Tyr403Ter)
c.1275C>G (p.Tyr425Ter)
c.792C>G (p.Tyr264Ter)
c.816C>G (p.Tyr272Ter)
5g.162153176C>TCA314695GABRG2c.1237C>T
c.1332C>T (p.Tyr444=)
c.1295C>T
n.490C>T
c.927C>T (p.Tyr309=)
c.951C>T (p.Tyr317=)
c.*3833C>T (n.*3833C>T)
c.1113C>T
c.603C>T (p.Tyr201=)
c.1212C>T (p.Tyr404=)
c.1236C>T (p.Tyr412=)
c.1899C>T (n.1899C>T)
c.*1417C>T (n.*1417C>T)
c.*436C>T (n.*436C>T)
c.1170C>T (p.Tyr390=)
c.1146C>T (p.Tyr382=)
n.510C>T
n.6183C>T
c.674C>T
c.1149C>T (p.Tyr383=)
c.1305C>T (p.Tyr435=)
c.1356C>T (p.Tyr452=)
c.*814C>T (n.*814C>T)
c.1333C>T (n.1333C>T)
c.1227C>T (p.Tyr409=)
c.*70C>T (n.*70C>T)
c.1233C>T (p.Tyr411=)
c.1209C>T (p.Tyr403=)
c.1275C>T (p.Tyr425=)
c.792C>T (p.Tyr264=)
c.816C>T (p.Tyr272=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.162153177G>ACA362183513GABRG2c.1238G>A
c.1333G>A (p.Gly445Ser)
c.1296G>A
n.491G>A
c.928G>A (p.Gly310Ser)
c.952G>A (p.Gly318Ser)
c.*3834G>A (n.*3834G>A)
c.1114G>A
c.604G>A (p.Gly202Ser)
c.1213G>A (p.Gly405Ser)
c.1237G>A (p.Gly413Ser)
c.1900G>A (n.1900G>A)
c.*1418G>A (n.*1418G>A)
c.*437G>A (n.*437G>A)
c.1171G>A (p.Gly391Ser)
c.1147G>A (p.Gly383Ser)
n.511G>A
n.6184G>A
c.675G>A
c.1150G>A (p.Gly384Ser)
c.1306G>A (p.Gly436Ser)
c.1357G>A (p.Gly453Ser)
c.*815G>A (n.*815G>A)
c.1334G>A (n.1334G>A)
c.1228G>A (p.Gly410Ser)
c.*71G>A (n.*71G>A)
c.1234G>A (p.Gly412Ser)
c.1210G>A (p.Gly404Ser)
c.1276G>A (p.Gly426Ser)
c.793G>A (p.Gly265Ser)
c.817G>A (p.Gly273Ser)
 ClinVar dbSNP gnomAD v4 COSMIC
5g.162153177G>CCA362183515GABRG2c.1238G>C
c.1333G>C (p.Gly445Arg)
c.1296G>C
n.491G>C
c.928G>C (p.Gly310Arg)
c.952G>C (p.Gly318Arg)
c.*3834G>C (n.*3834G>C)
c.1114G>C
c.604G>C (p.Gly202Arg)
c.1213G>C (p.Gly405Arg)
c.1237G>C (p.Gly413Arg)
c.1900G>C (n.1900G>C)
c.*1418G>C (n.*1418G>C)
c.*437G>C (n.*437G>C)
c.1171G>C (p.Gly391Arg)
c.1147G>C (p.Gly383Arg)
n.511G>C
n.6184G>C
c.675G>C
c.1150G>C (p.Gly384Arg)
c.1306G>C (p.Gly436Arg)
c.1357G>C (p.Gly453Arg)
c.*815G>C (n.*815G>C)
c.1334G>C (n.1334G>C)
c.1228G>C (p.Gly410Arg)
c.*71G>C (n.*71G>C)
c.1234G>C (p.Gly412Arg)
c.1210G>C (p.Gly404Arg)
c.1276G>C (p.Gly426Arg)
c.793G>C (p.Gly265Arg)
c.817G>C (p.Gly273Arg)
5g.162153177G=CA1596382049GABRG2c.1238G=
c.1333G= (p.Gly445=)
c.1296G=
n.491G=
c.928G= (p.Gly310=)
c.952G= (p.Gly318=)
c.*3834G= (n.*3834G=)
c.1114G=
c.604G= (p.Gly202=)
c.1213G= (p.Gly405=)
c.1237G= (p.Gly413=)
c.1900G= (n.1900G=)
c.*1418G= (n.*1418G=)
c.*437G= (n.*437G=)
c.1171G= (p.Gly391=)
c.1147G= (p.Gly383=)
n.511G=
n.6184G=
c.675G=
c.1150G= (p.Gly384=)
c.1306G= (p.Gly436=)
c.1357G= (p.Gly453=)
c.*815G= (n.*815G=)
c.1334G= (n.1334G=)
c.1228G= (p.Gly410=)
c.*71G= (n.*71G=)
c.1234G= (p.Gly412=)
c.1210G= (p.Gly404=)
c.1276G= (p.Gly426=)
c.793G= (p.Gly265=)
c.817G= (p.Gly273=)
5g.162153177G>TCA362183517GABRG2c.1238G>T
c.1333G>T (p.Gly445Cys)
c.1296G>T
n.491G>T
c.928G>T (p.Gly310Cys)
c.952G>T (p.Gly318Cys)
c.*3834G>T (n.*3834G>T)
c.1114G>T
c.604G>T (p.Gly202Cys)
c.1213G>T (p.Gly405Cys)
c.1237G>T (p.Gly413Cys)
c.1900G>T (n.1900G>T)
c.*1418G>T (n.*1418G>T)
c.*437G>T (n.*437G>T)
c.1171G>T (p.Gly391Cys)
c.1147G>T (p.Gly383Cys)
n.511G>T
n.6184G>T
c.675G>T
c.1150G>T (p.Gly384Cys)
c.1306G>T (p.Gly436Cys)
c.1357G>T (p.Gly453Cys)
c.*815G>T (n.*815G>T)
c.1334G>T (n.1334G>T)
c.1228G>T (p.Gly410Cys)
c.*71G>T (n.*71G>T)
c.1234G>T (p.Gly412Cys)
c.1210G>T (p.Gly404Cys)
c.1276G>T (p.Gly426Cys)
c.793G>T (p.Gly265Cys)
c.817G>T (p.Gly273Cys)
5g.162153178G>ACA362183521GABRG2c.1239G>A
c.1334G>A (p.Gly445Asp)
c.1297G>A
n.492G>A
c.929G>A (p.Gly310Asp)
c.953G>A (p.Gly318Asp)
c.*3835G>A (n.*3835G>A)
c.1115G>A
c.605G>A (p.Gly202Asp)
c.1214G>A (p.Gly405Asp)
c.1238G>A (p.Gly413Asp)
c.1901G>A (n.1901G>A)
c.*1419G>A (n.*1419G>A)
c.*438G>A (n.*438G>A)
c.1172G>A (p.Gly391Asp)
c.1148G>A (p.Gly383Asp)
n.512G>A
n.6185G>A
c.676G>A
c.1151G>A (p.Gly384Asp)
c.1307G>A (p.Gly436Asp)
c.1358G>A (p.Gly453Asp)
c.*816G>A (n.*816G>A)
c.1335G>A (n.1335G>A)
c.1229G>A (p.Gly410Asp)
c.*72G>A (n.*72G>A)
c.1235G>A (p.Gly412Asp)
c.1211G>A (p.Gly404Asp)
c.1277G>A (p.Gly426Asp)
c.794G>A (p.Gly265Asp)
c.818G>A (p.Gly273Asp)
 gnomAD v4
5g.162153178G>CCA362183523GABRG2c.1239G>C
c.1334G>C (p.Gly445Ala)
c.1297G>C
n.492G>C
c.929G>C (p.Gly310Ala)
c.953G>C (p.Gly318Ala)
c.*3835G>C (n.*3835G>C)
c.1115G>C
c.605G>C (p.Gly202Ala)
c.1214G>C (p.Gly405Ala)
c.1238G>C (p.Gly413Ala)
c.1901G>C (n.1901G>C)
c.*1419G>C (n.*1419G>C)
c.*438G>C (n.*438G>C)
c.1172G>C (p.Gly391Ala)
c.1148G>C (p.Gly383Ala)
n.512G>C
n.6185G>C
c.676G>C
c.1151G>C (p.Gly384Ala)
c.1307G>C (p.Gly436Ala)
c.1358G>C (p.Gly453Ala)
c.*816G>C (n.*816G>C)
c.1335G>C (n.1335G>C)
c.1229G>C (p.Gly410Ala)
c.*72G>C (n.*72G>C)
c.1235G>C (p.Gly412Ala)
c.1211G>C (p.Gly404Ala)
c.1277G>C (p.Gly426Ala)
c.794G>C (p.Gly265Ala)
c.818G>C (p.Gly273Ala)
5g.162153178G>TCA362183525GABRG2c.1239G>T
c.1334G>T (p.Gly445Val)
c.1297G>T
n.492G>T
c.929G>T (p.Gly310Val)
c.953G>T (p.Gly318Val)
c.*3835G>T (n.*3835G>T)
c.1115G>T
c.605G>T (p.Gly202Val)
c.1214G>T (p.Gly405Val)
c.1238G>T (p.Gly413Val)
c.1901G>T (n.1901G>T)
c.*1419G>T (n.*1419G>T)
c.*438G>T (n.*438G>T)
c.1172G>T (p.Gly391Val)
c.1148G>T (p.Gly383Val)
n.512G>T
n.6185G>T
c.676G>T
c.1151G>T (p.Gly384Val)
c.1307G>T (p.Gly436Val)
c.1358G>T (p.Gly453Val)
c.*816G>T (n.*816G>T)
c.1335G>T (n.1335G>T)
c.1229G>T (p.Gly410Val)
c.*72G>T (n.*72G>T)
c.1235G>T (p.Gly412Val)
c.1211G>T (p.Gly404Val)
c.1277G>T (p.Gly426Val)
c.794G>T (p.Gly265Val)
c.818G>T (p.Gly273Val)
5g.162153179C>ACA447691760GABRG2c.1240C>A
c.1335C>A (p.Gly445=)
c.1298C>A
n.493C>A
c.930C>A (p.Gly310=)
c.954C>A (p.Gly318=)
c.*3836C>A (n.*3836C>A)
c.1116C>A
c.606C>A (p.Gly202=)
c.1215C>A (p.Gly405=)
c.1239C>A (p.Gly413=)
c.1902C>A (n.1902C>A)
c.*1420C>A (n.*1420C>A)
c.*439C>A (n.*439C>A)
c.1173C>A (p.Gly391=)
c.1149C>A (p.Gly383=)
n.513C>A
n.6186C>A
c.677C>A
c.1152C>A (p.Gly384=)
c.1308C>A (p.Gly436=)
c.1359C>A (p.Gly453=)
c.*817C>A (n.*817C>A)
c.1336C>A (n.1336C>A)
c.1230C>A (p.Gly410=)
c.*73C>A (n.*73C>A)
c.1236C>A (p.Gly412=)
c.1212C>A (p.Gly404=)
c.1278C>A (p.Gly426=)
c.795C>A (p.Gly265=)
c.819C>A (p.Gly273=)
5g.162153179C=CA1596382053GABRG2c.1240C=
c.1335C= (p.Gly445=)
c.1298C=
n.493C=
c.930C= (p.Gly310=)
c.954C= (p.Gly318=)
c.*3836C= (n.*3836C=)
c.1116C=
c.606C= (p.Gly202=)
c.1215C= (p.Gly405=)
c.1239C= (p.Gly413=)
c.1902C= (n.1902C=)
c.*1420C= (n.*1420C=)
c.*439C= (n.*439C=)
c.1173C= (p.Gly391=)
c.1149C= (p.Gly383=)
n.513C=
n.6186C=
c.677C=
c.1152C= (p.Gly384=)
c.1308C= (p.Gly436=)
c.1359C= (p.Gly453=)
c.*817C= (n.*817C=)
c.1336C= (n.1336C=)
c.1230C= (p.Gly410=)
c.*73C= (n.*73C=)
c.1236C= (p.Gly412=)
c.1212C= (p.Gly404=)
c.1278C= (p.Gly426=)
c.795C= (p.Gly265=)
c.819C= (p.Gly273=)
5g.162153179C>GCA447691761GABRG2c.1240C>G
c.1335C>G (p.Gly445=)
c.1298C>G
n.493C>G
c.930C>G (p.Gly310=)
c.954C>G (p.Gly318=)
c.*3836C>G (n.*3836C>G)
c.1116C>G
c.606C>G (p.Gly202=)
c.1215C>G (p.Gly405=)
c.1239C>G (p.Gly413=)
c.1902C>G (n.1902C>G)
c.*1420C>G (n.*1420C>G)
c.*439C>G (n.*439C>G)
c.1173C>G (p.Gly391=)
c.1149C>G (p.Gly383=)
n.513C>G
n.6186C>G
c.677C>G
c.1152C>G (p.Gly384=)
c.1308C>G (p.Gly436=)
c.1359C>G (p.Gly453=)
c.*817C>G (n.*817C>G)
c.1336C>G (n.1336C>G)
c.1230C>G (p.Gly410=)
c.*73C>G (n.*73C>G)
c.1236C>G (p.Gly412=)
c.1212C>G (p.Gly404=)
c.1278C>G (p.Gly426=)
c.795C>G (p.Gly265=)
c.819C>G (p.Gly273=)
5g.162153179C>TCA447691762GABRG2c.1240C>T
c.1335C>T (p.Gly445=)
c.1298C>T
n.493C>T
c.930C>T (p.Gly310=)
c.954C>T (p.Gly318=)
c.*3836C>T (n.*3836C>T)
c.1116C>T
c.606C>T (p.Gly202=)
c.1215C>T (p.Gly405=)
c.1239C>T (p.Gly413=)
c.1902C>T (n.1902C>T)
c.*1420C>T (n.*1420C>T)
c.*439C>T (n.*439C>T)
c.1173C>T (p.Gly391=)
c.1149C>T (p.Gly383=)
n.513C>T
n.6186C>T
c.677C>T
c.1152C>T (p.Gly384=)
c.1308C>T (p.Gly436=)
c.1359C>T (p.Gly453=)
c.*817C>T (n.*817C>T)
c.1336C>T (n.1336C>T)
c.1230C>T (p.Gly410=)
c.*73C>T (n.*73C>T)
c.1236C>T (p.Gly412=)
c.1212C>T (p.Gly404=)
c.1278C>T (p.Gly426=)
c.795C>T (p.Gly265=)
c.819C>T (p.Gly273=)
 dbSNP gnomAD v3 gnomAD v4
5g.162153180T>ACA362183533GABRG2c.1241T>A
c.1336T>A (p.Tyr446Asn)
c.1299T>A
n.494T>A
c.931T>A (p.Tyr311Asn)
c.955T>A (p.Tyr319Asn)
c.*3837T>A (n.*3837T>A)
c.1117T>A
c.607T>A (p.Tyr203Asn)
c.1216T>A (p.Tyr406Asn)
c.1240T>A (p.Tyr414Asn)
c.1903T>A (n.1903T>A)
c.*1421T>A (n.*1421T>A)
c.*440T>A (n.*440T>A)
c.1174T>A (p.Tyr392Asn)
c.1150T>A (p.Tyr384Asn)
n.514T>A
n.6187T>A
c.678T>A
c.1153T>A (p.Tyr385Asn)
c.1309T>A (p.Tyr437Asn)
c.1360T>A (p.Tyr454Asn)
c.*818T>A (n.*818T>A)
c.1337T>A (n.1337T>A)
c.1231T>A (p.Tyr411Asn)
c.*74T>A (n.*74T>A)
c.1237T>A (p.Tyr413Asn)
c.1213T>A (p.Tyr405Asn)
c.1279T>A (p.Tyr427Asn)
c.796T>A (p.Tyr266Asn)
c.820T>A (p.Tyr274Asn)
5g.162153180T>CCA362183531GABRG2c.1241T>C
c.1336T>C (p.Tyr446His)
c.1299T>C
n.494T>C
c.931T>C (p.Tyr311His)
c.955T>C (p.Tyr319His)
c.*3837T>C (n.*3837T>C)
c.1117T>C
c.607T>C (p.Tyr203His)
c.1216T>C (p.Tyr406His)
c.1240T>C (p.Tyr414His)
c.1903T>C (n.1903T>C)
c.*1421T>C (n.*1421T>C)
c.*440T>C (n.*440T>C)
c.1174T>C (p.Tyr392His)
c.1150T>C (p.Tyr384His)
n.514T>C
n.6187T>C
c.678T>C
c.1153T>C (p.Tyr385His)
c.1309T>C (p.Tyr437His)
c.1360T>C (p.Tyr454His)
c.*818T>C (n.*818T>C)
c.1337T>C (n.1337T>C)
c.1231T>C (p.Tyr411His)
c.*74T>C (n.*74T>C)
c.1237T>C (p.Tyr413His)
c.1213T>C (p.Tyr405His)
c.1279T>C (p.Tyr427His)
c.796T>C (p.Tyr266His)
c.820T>C (p.Tyr274His)
 gnomAD v4
5g.162153180T>GCA362183528GABRG2c.1241T>G
c.1336T>G (p.Tyr446Asp)
c.1299T>G
n.494T>G
c.931T>G (p.Tyr311Asp)
c.955T>G (p.Tyr319Asp)
c.*3837T>G (n.*3837T>G)
c.1117T>G
c.607T>G (p.Tyr203Asp)
c.1216T>G (p.Tyr406Asp)
c.1240T>G (p.Tyr414Asp)
c.1903T>G (n.1903T>G)
c.*1421T>G (n.*1421T>G)
c.*440T>G (n.*440T>G)
c.1174T>G (p.Tyr392Asp)
c.1150T>G (p.Tyr384Asp)
n.514T>G
n.6187T>G
c.678T>G
c.1153T>G (p.Tyr385Asp)
c.1309T>G (p.Tyr437Asp)
c.1360T>G (p.Tyr454Asp)
c.*818T>G (n.*818T>G)
c.1337T>G (n.1337T>G)
c.1231T>G (p.Tyr411Asp)
c.*74T>G (n.*74T>G)
c.1237T>G (p.Tyr413Asp)
c.1213T>G (p.Tyr405Asp)
c.1279T>G (p.Tyr427Asp)
c.796T>G (p.Tyr266Asp)
c.820T>G (p.Tyr274Asp)
5g.162153181A=CA1596382056GABRG2c.1242A=
c.1337A= (p.Tyr446=)
c.1300A=
n.495A=
c.932A= (p.Tyr311=)
c.956A= (p.Tyr319=)
c.*3838A= (n.*3838A=)
c.1118A=
c.608A= (p.Tyr203=)
c.1217A= (p.Tyr406=)
c.1241A= (p.Tyr414=)
c.1904A= (n.1904A=)
c.*1422A= (n.*1422A=)
c.*441A= (n.*441A=)
c.1175A= (p.Tyr392=)
c.1151A= (p.Tyr384=)
n.515A=
n.6188A=
c.679A=
c.1154A= (p.Tyr385=)
c.1310A= (p.Tyr437=)
c.1361A= (p.Tyr454=)
c.*819A= (n.*819A=)
c.1338A= (n.1338A=)
c.1232A= (p.Tyr411=)
c.*75A= (n.*75A=)
c.1238A= (p.Tyr413=)
c.1214A= (p.Tyr405=)
c.1280A= (p.Tyr427=)
c.797A= (p.Tyr266=)
c.821A= (p.Tyr274=)
5g.162153181A>CCA362183536GABRG2c.1242A>C
c.1337A>C (p.Tyr446Ser)
c.1300A>C
n.495A>C
c.932A>C (p.Tyr311Ser)
c.956A>C (p.Tyr319Ser)
c.*3838A>C (n.*3838A>C)
c.1118A>C
c.608A>C (p.Tyr203Ser)
c.1217A>C (p.Tyr406Ser)
c.1241A>C (p.Tyr414Ser)
c.1904A>C (n.1904A>C)
c.*1422A>C (n.*1422A>C)
c.*441A>C (n.*441A>C)
c.1175A>C (p.Tyr392Ser)
c.1151A>C (p.Tyr384Ser)
n.515A>C
n.6188A>C
c.679A>C
c.1154A>C (p.Tyr385Ser)
c.1310A>C (p.Tyr437Ser)
c.1361A>C (p.Tyr454Ser)
c.*819A>C (n.*819A>C)
c.1338A>C (n.1338A>C)
c.1232A>C (p.Tyr411Ser)
c.*75A>C (n.*75A>C)
c.1238A>C (p.Tyr413Ser)
c.1214A>C (p.Tyr405Ser)
c.1280A>C (p.Tyr427Ser)
c.797A>C (p.Tyr266Ser)
c.821A>C (p.Tyr274Ser)
5g.162153181A>GCA362183534GABRG2c.1242A>G
c.1337A>G (p.Tyr446Cys)
c.1300A>G
n.495A>G
c.932A>G (p.Tyr311Cys)
c.956A>G (p.Tyr319Cys)
c.*3838A>G (n.*3838A>G)
c.1118A>G
c.608A>G (p.Tyr203Cys)
c.1217A>G (p.Tyr406Cys)
c.1241A>G (p.Tyr414Cys)
c.1904A>G (n.1904A>G)
c.*1422A>G (n.*1422A>G)
c.*441A>G (n.*441A>G)
c.1175A>G (p.Tyr392Cys)
c.1151A>G (p.Tyr384Cys)
n.515A>G
n.6188A>G
c.679A>G
c.1154A>G (p.Tyr385Cys)
c.1310A>G (p.Tyr437Cys)
c.1361A>G (p.Tyr454Cys)
c.*819A>G (n.*819A>G)
c.1338A>G (n.1338A>G)
c.1232A>G (p.Tyr411Cys)
c.*75A>G (n.*75A>G)
c.1238A>G (p.Tyr413Cys)
c.1214A>G (p.Tyr405Cys)
c.1280A>G (p.Tyr427Cys)
c.797A>G (p.Tyr266Cys)
c.821A>G (p.Tyr274Cys)
 dbSNP gnomAD v3 gnomAD v4
5g.162153181A>TCA362183535GABRG2c.1242A>T
c.1337A>T (p.Tyr446Phe)
c.1300A>T
n.495A>T
c.932A>T (p.Tyr311Phe)
c.956A>T (p.Tyr319Phe)
c.*3838A>T (n.*3838A>T)
c.1118A>T
c.608A>T (p.Tyr203Phe)
c.1217A>T (p.Tyr406Phe)
c.1241A>T (p.Tyr414Phe)
c.1904A>T (n.1904A>T)
c.*1422A>T (n.*1422A>T)
c.*441A>T (n.*441A>T)
c.1175A>T (p.Tyr392Phe)
c.1151A>T (p.Tyr384Phe)
n.515A>T
n.6188A>T
c.679A>T
c.1154A>T (p.Tyr385Phe)
c.1310A>T (p.Tyr437Phe)
c.1361A>T (p.Tyr454Phe)
c.*819A>T (n.*819A>T)
c.1338A>T (n.1338A>T)
c.1232A>T (p.Tyr411Phe)
c.*75A>T (n.*75A>T)
c.1238A>T (p.Tyr413Phe)
c.1214A>T (p.Tyr405Phe)
c.1280A>T (p.Tyr427Phe)
c.797A>T (p.Tyr266Phe)
c.821A>T (p.Tyr274Phe)
5g.162153182T>ACA362183537GABRG2c.1243T>A
c.1338T>A (p.Tyr446Ter)
c.1301T>A
n.496T>A
c.933T>A (p.Tyr311Ter)
c.957T>A (p.Tyr319Ter)
c.*3839T>A (n.*3839T>A)
c.1119T>A
c.609T>A (p.Tyr203Ter)
c.1218T>A (p.Tyr406Ter)
c.1242T>A (p.Tyr414Ter)
c.1905T>A (n.1905T>A)
c.*1423T>A (n.*1423T>A)
c.*442T>A (n.*442T>A)
c.1176T>A (p.Tyr392Ter)
c.1152T>A (p.Tyr384Ter)
n.516T>A
n.6189T>A
c.680T>A
c.1155T>A (p.Tyr385Ter)
c.1311T>A (p.Tyr437Ter)
c.1362T>A (p.Tyr454Ter)
c.*820T>A (n.*820T>A)
c.1339T>A (n.1339T>A)
c.1233T>A (p.Tyr411Ter)
c.*76T>A (n.*76T>A)
c.1239T>A (p.Tyr413Ter)
c.1215T>A (p.Tyr405Ter)
c.1281T>A (p.Tyr427Ter)
c.798T>A (p.Tyr266Ter)
c.822T>A (p.Tyr274Ter)
5g.162153182T>CCA447691765GABRG2c.1243T>C
c.1338T>C (p.Tyr446=)
c.1301T>C
n.496T>C
c.933T>C (p.Tyr311=)
c.957T>C (p.Tyr319=)
c.*3839T>C (n.*3839T>C)
c.1119T>C
c.609T>C (p.Tyr203=)
c.1218T>C (p.Tyr406=)
c.1242T>C (p.Tyr414=)
c.1905T>C (n.1905T>C)
c.*1423T>C (n.*1423T>C)
c.*442T>C (n.*442T>C)
c.1176T>C (p.Tyr392=)
c.1152T>C (p.Tyr384=)
n.516T>C
n.6189T>C
c.680T>C
c.1155T>C (p.Tyr385=)
c.1311T>C (p.Tyr437=)
c.1362T>C (p.Tyr454=)
c.*820T>C (n.*820T>C)
c.1339T>C (n.1339T>C)
c.1233T>C (p.Tyr411=)
c.*76T>C (n.*76T>C)
c.1239T>C (p.Tyr413=)
c.1215T>C (p.Tyr405=)
c.1281T>C (p.Tyr427=)
c.798T>C (p.Tyr266=)
c.822T>C (p.Tyr274=)
5g.162153182T>GCA362183538GABRG2c.1243T>G
c.1338T>G (p.Tyr446Ter)
c.1301T>G
n.496T>G
c.933T>G (p.Tyr311Ter)
c.957T>G (p.Tyr319Ter)
c.*3839T>G (n.*3839T>G)
c.1119T>G
c.609T>G (p.Tyr203Ter)
c.1218T>G (p.Tyr406Ter)
c.1242T>G (p.Tyr414Ter)
c.1905T>G (n.1905T>G)
c.*1423T>G (n.*1423T>G)
c.*442T>G (n.*442T>G)
c.1176T>G (p.Tyr392Ter)
c.1152T>G (p.Tyr384Ter)
n.516T>G
n.6189T>G
c.680T>G
c.1155T>G (p.Tyr385Ter)
c.1311T>G (p.Tyr437Ter)
c.1362T>G (p.Tyr454Ter)
c.*820T>G (n.*820T>G)
c.1339T>G (n.1339T>G)
c.1233T>G (p.Tyr411Ter)
c.*76T>G (n.*76T>G)
c.1239T>G (p.Tyr413Ter)
c.1215T>G (p.Tyr405Ter)
c.1281T>G (p.Tyr427Ter)
c.798T>G (p.Tyr266Ter)
c.822T>G (p.Tyr274Ter)
5g.162153183G>ACA362183539GABRG2c.1244G>A
c.1339G>A (p.Glu447Lys)
c.1302G>A
n.497G>A
c.934G>A (p.Glu312Lys)
c.958G>A (p.Glu320Lys)
c.*3840G>A (n.*3840G>A)
c.1120G>A
c.610G>A (p.Glu204Lys)
c.1219G>A (p.Glu407Lys)
c.1243G>A (p.Glu415Lys)
c.1906G>A (n.1906G>A)
c.*1424G>A (n.*1424G>A)
c.*443G>A (n.*443G>A)
c.1177G>A (p.Glu393Lys)
c.1153G>A (p.Glu385Lys)
n.517G>A
n.6190G>A
c.681G>A
c.1156G>A (p.Glu386Lys)
c.1312G>A (p.Glu438Lys)
c.1363G>A (p.Glu455Lys)
c.*821G>A (n.*821G>A)
c.1340G>A (n.1340G>A)
c.1234G>A (p.Glu412Lys)
c.*77G>A (n.*77G>A)
c.1240G>A (p.Glu414Lys)
c.1216G>A (p.Glu406Lys)
c.1282G>A (p.Glu428Lys)
c.799G>A (p.Glu267Lys)
c.823G>A (p.Glu275Lys)
 ClinVar dbSNP
5g.162153183G>CCA362183540GABRG2c.1244G>C
c.1339G>C (p.Glu447Gln)
c.1302G>C
n.497G>C
c.934G>C (p.Glu312Gln)
c.958G>C (p.Glu320Gln)
c.*3840G>C (n.*3840G>C)
c.1120G>C
c.610G>C (p.Glu204Gln)
c.1219G>C (p.Glu407Gln)
c.1243G>C (p.Glu415Gln)
c.1906G>C (n.1906G>C)
c.*1424G>C (n.*1424G>C)
c.*443G>C (n.*443G>C)
c.1177G>C (p.Glu393Gln)
c.1153G>C (p.Glu385Gln)
n.517G>C
n.6190G>C
c.681G>C
c.1156G>C (p.Glu386Gln)
c.1312G>C (p.Glu438Gln)
c.1363G>C (p.Glu455Gln)
c.*821G>C (n.*821G>C)
c.1340G>C (n.1340G>C)
c.1234G>C (p.Glu412Gln)
c.*77G>C (n.*77G>C)
c.1240G>C (p.Glu414Gln)
c.1216G>C (p.Glu406Gln)
c.1282G>C (p.Glu428Gln)
c.799G>C (p.Glu267Gln)
c.823G>C (p.Glu275Gln)
 COSMIC
5g.162153183G>TCA362183541GABRG2c.1244G>T
c.1339G>T (p.Glu447Ter)
c.1302G>T
n.497G>T
c.934G>T (p.Glu312Ter)
c.958G>T (p.Glu320Ter)
c.*3840G>T (n.*3840G>T)
c.1120G>T
c.610G>T (p.Glu204Ter)
c.1219G>T (p.Glu407Ter)
c.1243G>T (p.Glu415Ter)
c.1906G>T (n.1906G>T)
c.*1424G>T (n.*1424G>T)
c.*443G>T (n.*443G>T)
c.1177G>T (p.Glu393Ter)
c.1153G>T (p.Glu385Ter)
n.517G>T
n.6190G>T
c.681G>T
c.1156G>T (p.Glu386Ter)
c.1312G>T (p.Glu438Ter)
c.1363G>T (p.Glu455Ter)
c.*821G>T (n.*821G>T)
c.1340G>T (n.1340G>T)
c.1234G>T (p.Glu412Ter)
c.*77G>T (n.*77G>T)
c.1240G>T (p.Glu414Ter)
c.1216G>T (p.Glu406Ter)
c.1282G>T (p.Glu428Ter)
c.799G>T (p.Glu267Ter)
c.823G>T (p.Glu275Ter)
5g.162153184A>CCA362183542GABRG2c.1245A>C
c.1340A>C (p.Glu447Ala)
c.1303A>C
n.498A>C
c.935A>C (p.Glu312Ala)
c.959A>C (p.Glu320Ala)
c.*3841A>C (n.*3841A>C)
c.1121A>C
c.611A>C (p.Glu204Ala)
c.1220A>C (p.Glu407Ala)
c.1244A>C (p.Glu415Ala)
c.1907A>C (n.1907A>C)
c.*1425A>C (n.*1425A>C)
c.*444A>C (n.*444A>C)
c.1178A>C (p.Glu393Ala)
c.1154A>C (p.Glu385Ala)
n.518A>C
n.6191A>C
c.682A>C
c.1157A>C (p.Glu386Ala)
c.1313A>C (p.Glu438Ala)
c.1364A>C (p.Glu455Ala)
c.*822A>C (n.*822A>C)
c.1341A>C (n.1341A>C)
c.1235A>C (p.Glu412Ala)
c.*78A>C (n.*78A>C)
c.1241A>C (p.Glu414Ala)
c.1217A>C (p.Glu406Ala)
c.1283A>C (p.Glu428Ala)
c.800A>C (p.Glu267Ala)
c.824A>C (p.Glu275Ala)
5g.162153184A>GCA362183543GABRG2c.1245A>G
c.1340A>G (p.Glu447Gly)
c.1303A>G
n.498A>G
c.935A>G (p.Glu312Gly)
c.959A>G (p.Glu320Gly)
c.*3841A>G (n.*3841A>G)
c.1121A>G
c.611A>G (p.Glu204Gly)
c.1220A>G (p.Glu407Gly)
c.1244A>G (p.Glu415Gly)
c.1907A>G (n.1907A>G)
c.*1425A>G (n.*1425A>G)
c.*444A>G (n.*444A>G)
c.1178A>G (p.Glu393Gly)
c.1154A>G (p.Glu385Gly)
n.518A>G
n.6191A>G
c.682A>G
c.1157A>G (p.Glu386Gly)
c.1313A>G (p.Glu438Gly)
c.1364A>G (p.Glu455Gly)
c.*822A>G (n.*822A>G)
c.1341A>G (n.1341A>G)
c.1235A>G (p.Glu412Gly)
c.*78A>G (n.*78A>G)
c.1241A>G (p.Glu414Gly)
c.1217A>G (p.Glu406Gly)
c.1283A>G (p.Glu428Gly)
c.800A>G (p.Glu267Gly)
c.824A>G (p.Glu275Gly)
5g.162153184A>TCA362183544GABRG2c.1245A>T
c.1340A>T (p.Glu447Val)
c.1303A>T
n.498A>T
c.935A>T (p.Glu312Val)
c.959A>T (p.Glu320Val)
c.*3841A>T (n.*3841A>T)
c.1121A>T
c.611A>T (p.Glu204Val)
c.1220A>T (p.Glu407Val)
c.1244A>T (p.Glu415Val)
c.1907A>T (n.1907A>T)
c.*1425A>T (n.*1425A>T)
c.*444A>T (n.*444A>T)
c.1178A>T (p.Glu393Val)
c.1154A>T (p.Glu385Val)
n.518A>T
n.6191A>T
c.682A>T
c.1157A>T (p.Glu386Val)
c.1313A>T (p.Glu438Val)
c.1364A>T (p.Glu455Val)
c.*822A>T (n.*822A>T)
c.1341A>T (n.1341A>T)
c.1235A>T (p.Glu412Val)
c.*78A>T (n.*78A>T)
c.1241A>T (p.Glu414Val)
c.1217A>T (p.Glu406Val)
c.1283A>T (p.Glu428Val)
c.800A>T (p.Glu267Val)
c.824A>T (p.Glu275Val)
5g.162153185G>ACA447691767GABRG2c.1246G>A
c.1341G>A (p.Glu447=)
c.1304G>A
n.499G>A
c.936G>A (p.Glu312=)
c.960G>A (p.Glu320=)
c.*3842G>A (n.*3842G>A)
c.1122G>A
c.612G>A (p.Glu204=)
c.1221G>A (p.Glu407=)
c.1245G>A (p.Glu415=)
c.1908G>A (n.1908G>A)
c.*1426G>A (n.*1426G>A)
c.*445G>A (n.*445G>A)
c.1179G>A (p.Glu393=)
c.1155G>A (p.Glu385=)
n.519G>A
n.6192G>A
c.683G>A
c.1158G>A (p.Glu386=)
c.1314G>A (p.Glu438=)
c.1365G>A (p.Glu455=)
c.*823G>A (n.*823G>A)
c.1342G>A (n.1342G>A)
c.1236G>A (p.Glu412=)
c.*79G>A (n.*79G>A)
c.1242G>A (p.Glu414=)
c.1218G>A (p.Glu406=)
c.1284G>A (p.Glu428=)
c.801G>A (p.Glu267=)
c.825G>A (p.Glu275=)
 gnomAD v4
5g.162153185G>CCA362183545GABRG2c.1246G>C
c.1341G>C (p.Glu447Asp)
c.1304G>C
n.499G>C
c.936G>C (p.Glu312Asp)
c.960G>C (p.Glu320Asp)
c.*3842G>C (n.*3842G>C)
c.1122G>C
c.612G>C (p.Glu204Asp)
c.1221G>C (p.Glu407Asp)
c.1245G>C (p.Glu415Asp)
c.1908G>C (n.1908G>C)
c.*1426G>C (n.*1426G>C)
c.*445G>C (n.*445G>C)
c.1179G>C (p.Glu393Asp)
c.1155G>C (p.Glu385Asp)
n.519G>C
n.6192G>C
c.683G>C
c.1158G>C (p.Glu386Asp)
c.1314G>C (p.Glu438Asp)
c.1365G>C (p.Glu455Asp)
c.*823G>C (n.*823G>C)
c.1342G>C (n.1342G>C)
c.1236G>C (p.Glu412Asp)
c.*79G>C (n.*79G>C)
c.1242G>C (p.Glu414Asp)
c.1218G>C (p.Glu406Asp)
c.1284G>C (p.Glu428Asp)
c.801G>C (p.Glu267Asp)
c.825G>C (p.Glu275Asp)
5g.162153185G>TCA362183546GABRG2c.1246G>T
c.1341G>T (p.Glu447Asp)
c.1304G>T
n.499G>T
c.936G>T (p.Glu312Asp)
c.960G>T (p.Glu320Asp)
c.*3842G>T (n.*3842G>T)
c.1122G>T
c.612G>T (p.Glu204Asp)
c.1221G>T (p.Glu407Asp)
c.1245G>T (p.Glu415Asp)
c.1908G>T (n.1908G>T)
c.*1426G>T (n.*1426G>T)
c.*445G>T (n.*445G>T)
c.1179G>T (p.Glu393Asp)
c.1155G>T (p.Glu385Asp)
n.519G>T
n.6192G>T
c.683G>T
c.1158G>T (p.Glu386Asp)
c.1314G>T (p.Glu438Asp)
c.1365G>T (p.Glu455Asp)
c.*823G>T (n.*823G>T)
c.1342G>T (n.1342G>T)
c.1236G>T (p.Glu412Asp)
c.*79G>T (n.*79G>T)
c.1242G>T (p.Glu414Asp)
c.1218G>T (p.Glu406Asp)
c.1284G>T (p.Glu428Asp)
c.801G>T (p.Glu267Asp)
c.825G>T (p.Glu275Asp)
5g.162153186T>ACA362183549GABRG2c.1247T>A
c.1342T>A (p.Cys448Ser)
c.1305T>A
n.500T>A
c.937T>A (p.Cys313Ser)
c.961T>A (p.Cys321Ser)
c.*3843T>A (n.*3843T>A)
c.1123T>A
c.613T>A (p.Cys205Ser)
c.1222T>A (p.Cys408Ser)
c.1246T>A (p.Cys416Ser)
c.1909T>A (n.1909T>A)
c.*1427T>A (n.*1427T>A)
c.*446T>A (n.*446T>A)
c.1180T>A (p.Cys394Ser)
c.1156T>A (p.Cys386Ser)
n.520T>A
n.6193T>A
c.684T>A
c.1159T>A (p.Cys387Ser)
c.1315T>A (p.Cys439Ser)
c.1366T>A (p.Cys456Ser)
c.*824T>A (n.*824T>A)
c.1343T>A (n.1343T>A)
c.1237T>A (p.Cys413Ser)
c.*80T>A (n.*80T>A)
c.1243T>A (p.Cys415Ser)
c.1219T>A (p.Cys407Ser)
c.1285T>A (p.Cys429Ser)
c.802T>A (p.Cys268Ser)
c.826T>A (p.Cys276Ser)
5g.162153186T>CCA362183548GABRG2c.1247T>C
c.1342T>C (p.Cys448Arg)
c.1305T>C
n.500T>C
c.937T>C (p.Cys313Arg)
c.961T>C (p.Cys321Arg)
c.*3843T>C (n.*3843T>C)
c.1123T>C
c.613T>C (p.Cys205Arg)
c.1222T>C (p.Cys408Arg)
c.1246T>C (p.Cys416Arg)
c.1909T>C (n.1909T>C)
c.*1427T>C (n.*1427T>C)
c.*446T>C (n.*446T>C)
c.1180T>C (p.Cys394Arg)
c.1156T>C (p.Cys386Arg)
n.520T>C
n.6193T>C
c.684T>C
c.1159T>C (p.Cys387Arg)
c.1315T>C (p.Cys439Arg)
c.1366T>C (p.Cys456Arg)
c.*824T>C (n.*824T>C)
c.1343T>C (n.1343T>C)
c.1237T>C (p.Cys413Arg)
c.*80T>C (n.*80T>C)
c.1243T>C (p.Cys415Arg)
c.1219T>C (p.Cys407Arg)
c.1285T>C (p.Cys429Arg)
c.802T>C (p.Cys268Arg)
c.826T>C (p.Cys276Arg)
5g.162153186T>GCA362183547GABRG2c.1247T>G
c.1342T>G (p.Cys448Gly)
c.1305T>G
n.500T>G
c.937T>G (p.Cys313Gly)
c.961T>G (p.Cys321Gly)
c.*3843T>G (n.*3843T>G)
c.1123T>G
c.613T>G (p.Cys205Gly)
c.1222T>G (p.Cys408Gly)
c.1246T>G (p.Cys416Gly)
c.1909T>G (n.1909T>G)
c.*1427T>G (n.*1427T>G)
c.*446T>G (n.*446T>G)
c.1180T>G (p.Cys394Gly)
c.1156T>G (p.Cys386Gly)
n.520T>G
n.6193T>G
c.684T>G
c.1159T>G (p.Cys387Gly)
c.1315T>G (p.Cys439Gly)
c.1366T>G (p.Cys456Gly)
c.*824T>G (n.*824T>G)
c.1343T>G (n.1343T>G)
c.1237T>G (p.Cys413Gly)
c.*80T>G (n.*80T>G)
c.1243T>G (p.Cys415Gly)
c.1219T>G (p.Cys407Gly)
c.1285T>G (p.Cys429Gly)
c.802T>G (p.Cys268Gly)
c.826T>G (p.Cys276Gly)
5g.162153187G>ACA362183550GABRG2c.1248G>A
c.1343G>A (p.Cys448Tyr)
c.1306G>A
n.501G>A
c.938G>A (p.Cys313Tyr)
c.962G>A (p.Cys321Tyr)
c.*3844G>A (n.*3844G>A)
c.1124G>A
c.614G>A (p.Cys205Tyr)
c.1223G>A (p.Cys408Tyr)
c.1247G>A (p.Cys416Tyr)
c.1910G>A (n.1910G>A)
c.*1428G>A (n.*1428G>A)
c.*447G>A (n.*447G>A)
c.1181G>A (p.Cys394Tyr)
c.1157G>A (p.Cys386Tyr)
n.521G>A
n.6194G>A
c.685G>A
c.1160G>A (p.Cys387Tyr)
c.1316G>A (p.Cys439Tyr)
c.1367G>A (p.Cys456Tyr)
c.*825G>A (n.*825G>A)
c.1344G>A (n.1344G>A)
c.1238G>A (p.Cys413Tyr)
c.*81G>A (n.*81G>A)
c.1244G>A (p.Cys415Tyr)
c.1220G>A (p.Cys407Tyr)
c.1286G>A (p.Cys429Tyr)
c.803G>A (p.Cys268Tyr)
c.827G>A (p.Cys276Tyr)
5g.162153187G>CCA362183551GABRG2c.1248G>C
c.1343G>C (p.Cys448Ser)
c.1306G>C
n.501G>C
c.938G>C (p.Cys313Ser)
c.962G>C (p.Cys321Ser)
c.*3844G>C (n.*3844G>C)
c.1124G>C
c.614G>C (p.Cys205Ser)
c.1223G>C (p.Cys408Ser)
c.1247G>C (p.Cys416Ser)
c.1910G>C (n.1910G>C)
c.*1428G>C (n.*1428G>C)
c.*447G>C (n.*447G>C)
c.1181G>C (p.Cys394Ser)
c.1157G>C (p.Cys386Ser)
n.521G>C
n.6194G>C
c.685G>C
c.1160G>C (p.Cys387Ser)
c.1316G>C (p.Cys439Ser)
c.1367G>C (p.Cys456Ser)
c.*825G>C (n.*825G>C)
c.1344G>C (n.1344G>C)
c.1238G>C (p.Cys413Ser)
c.*81G>C (n.*81G>C)
c.1244G>C (p.Cys415Ser)
c.1220G>C (p.Cys407Ser)
c.1286G>C (p.Cys429Ser)
c.803G>C (p.Cys268Ser)
c.827G>C (p.Cys276Ser)
5g.162153187G>TCA362183552GABRG2c.1248G>T
c.1343G>T (p.Cys448Phe)
c.1306G>T
n.501G>T
c.938G>T (p.Cys313Phe)
c.962G>T (p.Cys321Phe)
c.*3844G>T (n.*3844G>T)
c.1124G>T
c.614G>T (p.Cys205Phe)
c.1223G>T (p.Cys408Phe)
c.1247G>T (p.Cys416Phe)
c.1910G>T (n.1910G>T)
c.*1428G>T (n.*1428G>T)
c.*447G>T (n.*447G>T)
c.1181G>T (p.Cys394Phe)
c.1157G>T (p.Cys386Phe)
n.521G>T
n.6194G>T
c.685G>T
c.1160G>T (p.Cys387Phe)
c.1316G>T (p.Cys439Phe)
c.1367G>T (p.Cys456Phe)
c.*825G>T (n.*825G>T)
c.1344G>T (n.1344G>T)
c.1238G>T (p.Cys413Phe)
c.*81G>T (n.*81G>T)
c.1244G>T (p.Cys415Phe)
c.1220G>T (p.Cys407Phe)
c.1286G>T (p.Cys429Phe)
c.803G>T (p.Cys268Phe)
c.827G>T (p.Cys276Phe)
 COSMIC
5g.162153188T>ACA362183553GABRG2c.1249T>A
c.1344T>A (p.Cys448Ter)
c.1307T>A
n.502T>A
c.939T>A (p.Cys313Ter)
c.963T>A (p.Cys321Ter)
c.*3845T>A (n.*3845T>A)
c.1125T>A
c.615T>A (p.Cys205Ter)
c.1224T>A (p.Cys408Ter)
c.1248T>A (p.Cys416Ter)
c.1911T>A (n.1911T>A)
c.*1429T>A (n.*1429T>A)
c.*448T>A (n.*448T>A)
c.1182T>A (p.Cys394Ter)
c.1158T>A (p.Cys386Ter)
n.522T>A
n.6195T>A
c.686T>A
c.1161T>A (p.Cys387Ter)
c.1317T>A (p.Cys439Ter)
c.1368T>A (p.Cys456Ter)
c.*826T>A (n.*826T>A)
c.1345T>A (n.1345T>A)
c.1239T>A (p.Cys413Ter)
c.*82T>A (n.*82T>A)
c.1245T>A (p.Cys415Ter)
c.1221T>A (p.Cys407Ter)
c.1287T>A (p.Cys429Ter)
c.804T>A (p.Cys268Ter)
c.828T>A (p.Cys276Ter)
5g.162153188T>CCA447691770GABRG2c.1249T>C
c.1344T>C (p.Cys448=)
c.1307T>C
n.502T>C
c.939T>C (p.Cys313=)
c.963T>C (p.Cys321=)
c.*3845T>C (n.*3845T>C)
c.1125T>C
c.615T>C (p.Cys205=)
c.1224T>C (p.Cys408=)
c.1248T>C (p.Cys416=)
c.1911T>C (n.1911T>C)
c.*1429T>C (n.*1429T>C)
c.*448T>C (n.*448T>C)
c.1182T>C (p.Cys394=)
c.1158T>C (p.Cys386=)
n.522T>C
n.6195T>C
c.686T>C
c.1161T>C (p.Cys387=)
c.1317T>C (p.Cys439=)
c.1368T>C (p.Cys456=)
c.*826T>C (n.*826T>C)
c.1345T>C (n.1345T>C)
c.1239T>C (p.Cys413=)
c.*82T>C (n.*82T>C)
c.1245T>C (p.Cys415=)
c.1221T>C (p.Cys407=)
c.1287T>C (p.Cys429=)
c.804T>C (p.Cys268=)
c.828T>C (p.Cys276=)
 gnomAD v4
5g.162153188T>GCA362183554GABRG2c.1249T>G
c.1344T>G (p.Cys448Trp)
c.1307T>G
n.502T>G
c.939T>G (p.Cys313Trp)
c.963T>G (p.Cys321Trp)
c.*3845T>G (n.*3845T>G)
c.1125T>G
c.615T>G (p.Cys205Trp)
c.1224T>G (p.Cys408Trp)
c.1248T>G (p.Cys416Trp)
c.1911T>G (n.1911T>G)
c.*1429T>G (n.*1429T>G)
c.*448T>G (n.*448T>G)
c.1182T>G (p.Cys394Trp)
c.1158T>G (p.Cys386Trp)
n.522T>G
n.6195T>G
c.686T>G
c.1161T>G (p.Cys387Trp)
c.1317T>G (p.Cys439Trp)
c.1368T>G (p.Cys456Trp)
c.*826T>G (n.*826T>G)
c.1345T>G (n.1345T>G)
c.1239T>G (p.Cys413Trp)
c.*82T>G (n.*82T>G)
c.1245T>G (p.Cys415Trp)
c.1221T>G (p.Cys407Trp)
c.1287T>G (p.Cys429Trp)
c.804T>G (p.Cys268Trp)
c.828T>G (p.Cys276Trp)
5g.162153189C>ACA362183555GABRG2c.1250C>A
c.1345C>A (p.Leu449Met)
c.1308C>A
n.503C>A
c.940C>A (p.Leu314Met)
c.964C>A (p.Leu322Met)
c.*3846C>A (n.*3846C>A)
c.1126C>A
c.616C>A (p.Leu206Met)
c.1225C>A (p.Leu409Met)
c.1249C>A (p.Leu417Met)
c.1912C>A (n.1912C>A)
c.*1430C>A (n.*1430C>A)
c.*449C>A (n.*449C>A)
c.1183C>A (p.Leu395Met)
c.1159C>A (p.Leu387Met)
n.523C>A
n.6196C>A
c.687C>A
c.1162C>A (p.Leu388Met)
c.1318C>A (p.Leu440Met)
c.1369C>A (p.Leu457Met)
c.*827C>A (n.*827C>A)
c.1346C>A (n.1346C>A)
c.1240C>A (p.Leu414Met)
c.*83C>A (n.*83C>A)
c.1246C>A (p.Leu416Met)
c.1222C>A (p.Leu408Met)
c.1288C>A (p.Leu430Met)
c.805C>A (p.Leu269Met)
c.829C>A (p.Leu277Met)
5g.162153189C>GCA362183556GABRG2c.1250C>G
c.1345C>G (p.Leu449Val)
c.1308C>G
n.503C>G
c.940C>G (p.Leu314Val)
c.964C>G (p.Leu322Val)
c.*3846C>G (n.*3846C>G)
c.1126C>G
c.616C>G (p.Leu206Val)
c.1225C>G (p.Leu409Val)
c.1249C>G (p.Leu417Val)
c.1912C>G (n.1912C>G)
c.*1430C>G (n.*1430C>G)
c.*449C>G (n.*449C>G)
c.1183C>G (p.Leu395Val)
c.1159C>G (p.Leu387Val)
n.523C>G
n.6196C>G
c.687C>G
c.1162C>G (p.Leu388Val)
c.1318C>G (p.Leu440Val)
c.1369C>G (p.Leu457Val)
c.*827C>G (n.*827C>G)
c.1346C>G (n.1346C>G)
c.1240C>G (p.Leu414Val)
c.*83C>G (n.*83C>G)
c.1246C>G (p.Leu416Val)
c.1222C>G (p.Leu408Val)
c.1288C>G (p.Leu430Val)
c.805C>G (p.Leu269Val)
c.829C>G (p.Leu277Val)
 gnomAD v4
5g.162153189C>TCA447691773GABRG2c.1250C>T
c.1345C>T (p.Leu449=)
c.1308C>T
n.503C>T
c.940C>T (p.Leu314=)
c.964C>T (p.Leu322=)
c.*3846C>T (n.*3846C>T)
c.1126C>T
c.616C>T (p.Leu206=)
c.1225C>T (p.Leu409=)
c.1249C>T (p.Leu417=)
c.1912C>T (n.1912C>T)
c.*1430C>T (n.*1430C>T)
c.*449C>T (n.*449C>T)
c.1183C>T (p.Leu395=)
c.1159C>T (p.Leu387=)
n.523C>T
n.6196C>T
c.687C>T
c.1162C>T (p.Leu388=)
c.1318C>T (p.Leu440=)
c.1369C>T (p.Leu457=)
c.*827C>T (n.*827C>T)
c.1346C>T (n.1346C>T)
c.1240C>T (p.Leu414=)
c.*83C>T (n.*83C>T)
c.1246C>T (p.Leu416=)
c.1222C>T (p.Leu408=)
c.1288C>T (p.Leu430=)
c.805C>T (p.Leu269=)
c.829C>T (p.Leu277=)
 gnomAD v4
5g.162153190T>ACA362183557GABRG2c.1251T>A
c.1346T>A (p.Leu449Gln)
c.1309T>A
n.504T>A
c.941T>A (p.Leu314Gln)
c.965T>A (p.Leu322Gln)
c.*3847T>A (n.*3847T>A)
c.1127T>A
c.617T>A (p.Leu206Gln)
c.1226T>A (p.Leu409Gln)
c.1250T>A (p.Leu417Gln)
c.1913T>A (n.1913T>A)
c.*1431T>A (n.*1431T>A)
c.*450T>A (n.*450T>A)
c.1184T>A (p.Leu395Gln)
c.1160T>A (p.Leu387Gln)
n.524T>A
n.6197T>A
c.688T>A
c.1163T>A (p.Leu388Gln)
c.1319T>A (p.Leu440Gln)
c.1370T>A (p.Leu457Gln)
c.*828T>A (n.*828T>A)
c.1347T>A (n.1347T>A)
c.1241T>A (p.Leu414Gln)
c.*84T>A (n.*84T>A)
c.1247T>A (p.Leu416Gln)
c.1223T>A (p.Leu408Gln)
c.1289T>A (p.Leu430Gln)
c.806T>A (p.Leu269Gln)
c.830T>A (p.Leu277Gln)
5g.162153190T>CCA362183558GABRG2c.1251T>C
c.1346T>C (p.Leu449Pro)
c.1309T>C
n.504T>C
c.941T>C (p.Leu314Pro)
c.965T>C (p.Leu322Pro)
c.*3847T>C (n.*3847T>C)
c.1127T>C
c.617T>C (p.Leu206Pro)
c.1226T>C (p.Leu409Pro)
c.1250T>C (p.Leu417Pro)
c.1913T>C (n.1913T>C)
c.*1431T>C (n.*1431T>C)
c.*450T>C (n.*450T>C)
c.1184T>C (p.Leu395Pro)
c.1160T>C (p.Leu387Pro)
n.524T>C
n.6197T>C
c.688T>C
c.1163T>C (p.Leu388Pro)
c.1319T>C (p.Leu440Pro)
c.1370T>C (p.Leu457Pro)
c.*828T>C (n.*828T>C)
c.1347T>C (n.1347T>C)
c.1241T>C (p.Leu414Pro)
c.*84T>C (n.*84T>C)
c.1247T>C (p.Leu416Pro)
c.1223T>C (p.Leu408Pro)
c.1289T>C (p.Leu430Pro)
c.806T>C (p.Leu269Pro)
c.830T>C (p.Leu277Pro)
5g.162153190T>GCA362183559GABRG2c.1251T>G
c.1346T>G (p.Leu449Arg)
c.1309T>G
n.504T>G
c.941T>G (p.Leu314Arg)
c.965T>G (p.Leu322Arg)
c.*3847T>G (n.*3847T>G)
c.1127T>G
c.617T>G (p.Leu206Arg)
c.1226T>G (p.Leu409Arg)
c.1250T>G (p.Leu417Arg)
c.1913T>G (n.1913T>G)
c.*1431T>G (n.*1431T>G)
c.*450T>G (n.*450T>G)
c.1184T>G (p.Leu395Arg)
c.1160T>G (p.Leu387Arg)
n.524T>G
n.6197T>G
c.688T>G
c.1163T>G (p.Leu388Arg)
c.1319T>G (p.Leu440Arg)
c.1370T>G (p.Leu457Arg)
c.*828T>G (n.*828T>G)
c.1347T>G (n.1347T>G)
c.1241T>G (p.Leu414Arg)
c.*84T>G (n.*84T>G)
c.1247T>G (p.Leu416Arg)
c.1223T>G (p.Leu408Arg)
c.1289T>G (p.Leu430Arg)
c.806T>G (p.Leu269Arg)
c.830T>G (p.Leu277Arg)
5g.162153191G>ACA447691774GABRG2c.1252G>A
c.1347G>A (p.Leu449=)
c.1310G>A
n.505G>A
c.942G>A (p.Leu314=)
c.966G>A (p.Leu322=)
c.*3848G>A (n.*3848G>A)
c.1128G>A
c.618G>A (p.Leu206=)
c.1227G>A (p.Leu409=)
c.1251G>A (p.Leu417=)
c.1914G>A (n.1914G>A)
c.*1432G>A (n.*1432G>A)
c.*451G>A (n.*451G>A)
c.1185G>A (p.Leu395=)
c.1161G>A (p.Leu387=)
n.525G>A
n.6198G>A
c.689G>A
c.1164G>A (p.Leu388=)
c.1320G>A (p.Leu440=)
c.1371G>A (p.Leu457=)
c.*829G>A (n.*829G>A)
c.1348G>A (n.1348G>A)
c.1242G>A (p.Leu414=)
c.*85G>A (n.*85G>A)
c.1248G>A (p.Leu416=)
c.1224G>A (p.Leu408=)
c.1290G>A (p.Leu430=)
c.807G>A (p.Leu269=)
c.831G>A (p.Leu277=)
 gnomAD v4
5g.162153191G>CCA447691776GABRG2c.1252G>C
c.1347G>C (p.Leu449=)
c.1310G>C
n.505G>C
c.942G>C (p.Leu314=)
c.966G>C (p.Leu322=)
c.*3848G>C (n.*3848G>C)
c.1128G>C
c.618G>C (p.Leu206=)
c.1227G>C (p.Leu409=)
c.1251G>C (p.Leu417=)
c.1914G>C (n.1914G>C)
c.*1432G>C (n.*1432G>C)
c.*451G>C (n.*451G>C)
c.1185G>C (p.Leu395=)
c.1161G>C (p.Leu387=)
n.525G>C
n.6198G>C
c.689G>C
c.1164G>C (p.Leu388=)
c.1320G>C (p.Leu440=)
c.1371G>C (p.Leu457=)
c.*829G>C (n.*829G>C)
c.1348G>C (n.1348G>C)
c.1242G>C (p.Leu414=)
c.*85G>C (n.*85G>C)
c.1248G>C (p.Leu416=)
c.1224G>C (p.Leu408=)
c.1290G>C (p.Leu430=)
c.807G>C (p.Leu269=)
c.831G>C (p.Leu277=)
 gnomAD v4
5g.162153191G>TCA447691779GABRG2c.1252G>T
c.1347G>T (p.Leu449=)
c.1310G>T
n.505G>T
c.942G>T (p.Leu314=)
c.966G>T (p.Leu322=)
c.*3848G>T (n.*3848G>T)
c.1128G>T
c.618G>T (p.Leu206=)
c.1227G>T (p.Leu409=)
c.1251G>T (p.Leu417=)
c.1914G>T (n.1914G>T)
c.*1432G>T (n.*1432G>T)
c.*451G>T (n.*451G>T)
c.1185G>T (p.Leu395=)
c.1161G>T (p.Leu387=)
n.525G>T
n.6198G>T
c.689G>T
c.1164G>T (p.Leu388=)
c.1320G>T (p.Leu440=)
c.1371G>T (p.Leu457=)
c.*829G>T (n.*829G>T)
c.1348G>T (n.1348G>T)
c.1242G>T (p.Leu414=)
c.*85G>T (n.*85G>T)
c.1248G>T (p.Leu416=)
c.1224G>T (p.Leu408=)
c.1290G>T (p.Leu430=)
c.807G>T (p.Leu269=)
c.831G>T (p.Leu277=)
5g.162153192G>ACA362183560GABRG2c.1253G>A
c.1348G>A (p.Asp450Asn)
c.1311G>A
n.506G>A
c.943G>A (p.Asp315Asn)
c.967G>A (p.Asp323Asn)
c.*3849G>A (n.*3849G>A)
c.1129G>A
c.619G>A (p.Asp207Asn)
c.1228G>A (p.Asp410Asn)
c.1252G>A (p.Asp418Asn)
c.1915G>A (n.1915G>A)
c.*1433G>A (n.*1433G>A)
c.*452G>A (n.*452G>A)
c.1186G>A (p.Asp396Asn)
c.1162G>A (p.Asp388Asn)
n.526G>A
n.6199G>A
c.690G>A
c.1165G>A (p.Asp389Asn)
c.1321G>A (p.Asp441Asn)
c.1372G>A (p.Asp458Asn)
c.*830G>A (n.*830G>A)
c.1349G>A (n.1349G>A)
c.1243G>A (p.Asp415Asn)
c.*86G>A (n.*86G>A)
c.1249G>A (p.Asp417Asn)
c.1225G>A (p.Asp409Asn)
c.1291G>A (p.Asp431Asn)
c.808G>A (p.Asp270Asn)
c.832G>A (p.Asp278Asn)
 gnomAD v4
5g.162153192G>CCA362183561GABRG2c.1253G>C
c.1348G>C (p.Asp450His)
c.1311G>C
n.506G>C
c.943G>C (p.Asp315His)
c.967G>C (p.Asp323His)
c.*3849G>C (n.*3849G>C)
c.1129G>C
c.619G>C (p.Asp207His)
c.1228G>C (p.Asp410His)
c.1252G>C (p.Asp418His)
c.1915G>C (n.1915G>C)
c.*1433G>C (n.*1433G>C)
c.*452G>C (n.*452G>C)
c.1186G>C (p.Asp396His)
c.1162G>C (p.Asp388His)
n.526G>C
n.6199G>C
c.690G>C
c.1165G>C (p.Asp389His)
c.1321G>C (p.Asp441His)
c.1372G>C (p.Asp458His)
c.*830G>C (n.*830G>C)
c.1349G>C (n.1349G>C)
c.1243G>C (p.Asp415His)
c.*86G>C (n.*86G>C)
c.1249G>C (p.Asp417His)
c.1225G>C (p.Asp409His)
c.1291G>C (p.Asp431His)
c.808G>C (p.Asp270His)
c.832G>C (p.Asp278His)
5g.162153192G>TCA362183562GABRG2c.1253G>T
c.1348G>T (p.Asp450Tyr)
c.1311G>T
n.506G>T
c.943G>T (p.Asp315Tyr)
c.967G>T (p.Asp323Tyr)
c.*3849G>T (n.*3849G>T)
c.1129G>T
c.619G>T (p.Asp207Tyr)
c.1228G>T (p.Asp410Tyr)
c.1252G>T (p.Asp418Tyr)
c.1915G>T (n.1915G>T)
c.*1433G>T (n.*1433G>T)
c.*452G>T (n.*452G>T)
c.1186G>T (p.Asp396Tyr)
c.1162G>T (p.Asp388Tyr)
n.526G>T
n.6199G>T
c.690G>T
c.1165G>T (p.Asp389Tyr)
c.1321G>T (p.Asp441Tyr)
c.1372G>T (p.Asp458Tyr)
c.*830G>T (n.*830G>T)
c.1349G>T (n.1349G>T)
c.1243G>T (p.Asp415Tyr)
c.*86G>T (n.*86G>T)
c.1249G>T (p.Asp417Tyr)
c.1225G>T (p.Asp409Tyr)
c.1291G>T (p.Asp431Tyr)
c.808G>T (p.Asp270Tyr)
c.832G>T (p.Asp278Tyr)
5g.162153193A>CCA362183565GABRG2c.1254A>C
c.1349A>C (p.Asp450Ala)
c.1312A>C
n.507A>C
c.944A>C (p.Asp315Ala)
c.968A>C (p.Asp323Ala)
c.*3850A>C (n.*3850A>C)
c.1130A>C
c.620A>C (p.Asp207Ala)
c.1229A>C (p.Asp410Ala)
c.1253A>C (p.Asp418Ala)
c.1916A>C (n.1916A>C)
c.*1434A>C (n.*1434A>C)
c.*453A>C (n.*453A>C)
c.1187A>C (p.Asp396Ala)
c.1163A>C (p.Asp388Ala)
n.527A>C
n.6200A>C
c.691A>C
c.1166A>C (p.Asp389Ala)
c.1322A>C (p.Asp441Ala)
c.1373A>C (p.Asp458Ala)
c.*831A>C (n.*831A>C)
c.1350A>C (n.1350A>C)
c.1244A>C (p.Asp415Ala)
c.*87A>C (n.*87A>C)
c.1250A>C (p.Asp417Ala)
c.1226A>C (p.Asp409Ala)
c.1292A>C (p.Asp431Ala)
c.809A>C (p.Asp270Ala)
c.833A>C (p.Asp278Ala)
5g.162153193A>GCA362183564GABRG2c.1254A>G
c.1349A>G (p.Asp450Gly)
c.1312A>G
n.507A>G
c.944A>G (p.Asp315Gly)
c.968A>G (p.Asp323Gly)
c.*3850A>G (n.*3850A>G)
c.1130A>G
c.620A>G (p.Asp207Gly)
c.1229A>G (p.Asp410Gly)
c.1253A>G (p.Asp418Gly)
c.1916A>G (n.1916A>G)
c.*1434A>G (n.*1434A>G)
c.*453A>G (n.*453A>G)
c.1187A>G (p.Asp396Gly)
c.1163A>G (p.Asp388Gly)
n.527A>G
n.6200A>G
c.691A>G
c.1166A>G (p.Asp389Gly)
c.1322A>G (p.Asp441Gly)
c.1373A>G (p.Asp458Gly)
c.*831A>G (n.*831A>G)
c.1350A>G (n.1350A>G)
c.1244A>G (p.Asp415Gly)
c.*87A>G (n.*87A>G)
c.1250A>G (p.Asp417Gly)
c.1226A>G (p.Asp409Gly)
c.1292A>G (p.Asp431Gly)
c.809A>G (p.Asp270Gly)
c.833A>G (p.Asp278Gly)
5g.162153193A>TCA362183563GABRG2c.1254A>T
c.1349A>T (p.Asp450Val)
c.1312A>T
n.507A>T
c.944A>T (p.Asp315Val)
c.968A>T (p.Asp323Val)
c.*3850A>T (n.*3850A>T)
c.1130A>T
c.620A>T (p.Asp207Val)
c.1229A>T (p.Asp410Val)
c.1253A>T (p.Asp418Val)
c.1916A>T (n.1916A>T)
c.*1434A>T (n.*1434A>T)
c.*453A>T (n.*453A>T)
c.1187A>T (p.Asp396Val)
c.1163A>T (p.Asp388Val)
n.527A>T
n.6200A>T
c.691A>T
c.1166A>T (p.Asp389Val)
c.1322A>T (p.Asp441Val)
c.1373A>T (p.Asp458Val)
c.*831A>T (n.*831A>T)
c.1350A>T (n.1350A>T)
c.1244A>T (p.Asp415Val)
c.*87A>T (n.*87A>T)
c.1250A>T (p.Asp417Val)
c.1226A>T (p.Asp409Val)
c.1292A>T (p.Asp431Val)
c.809A>T (p.Asp270Val)
c.833A>T (p.Asp278Val)
5g.162153194C>ACA362183566GABRG2c.1255C>A
c.1350C>A (p.Asp450Glu)
c.1313C>A
n.508C>A
c.945C>A (p.Asp315Glu)
c.969C>A (p.Asp323Glu)
c.*3851C>A (n.*3851C>A)
c.1131C>A
c.621C>A (p.Asp207Glu)
c.1230C>A (p.Asp410Glu)
c.1254C>A (p.Asp418Glu)
c.1917C>A (n.1917C>A)
c.*1435C>A (n.*1435C>A)
c.*454C>A (n.*454C>A)
c.1188C>A (p.Asp396Glu)
c.1164C>A (p.Asp388Glu)
n.528C>A
n.6201C>A
c.692C>A
c.1167C>A (p.Asp389Glu)
c.1323C>A (p.Asp441Glu)
c.1374C>A (p.Asp458Glu)
c.*832C>A (n.*832C>A)
c.1351C>A (n.1351C>A)
c.1245C>A (p.Asp415Glu)
c.*88C>A (n.*88C>A)
c.1251C>A (p.Asp417Glu)
c.1227C>A (p.Asp409Glu)
c.1293C>A (p.Asp431Glu)
c.810C>A (p.Asp270Glu)
c.834C>A (p.Asp278Glu)
5g.162153194C=CA1596382064GABRG2c.1255C=
c.1350C= (p.Asp450=)
c.1313C=
n.508C=
c.945C= (p.Asp315=)
c.969C= (p.Asp323=)
c.*3851C= (n.*3851C=)
c.1131C=
c.621C= (p.Asp207=)
c.1230C= (p.Asp410=)
c.1254C= (p.Asp418=)
c.1917C= (n.1917C=)
c.*1435C= (n.*1435C=)
c.*454C= (n.*454C=)
c.1188C= (p.Asp396=)
c.1164C= (p.Asp388=)
n.528C=
n.6201C=
c.692C=
c.1167C= (p.Asp389=)
c.1323C= (p.Asp441=)
c.1374C= (p.Asp458=)
c.*832C= (n.*832C=)
c.1351C= (n.1351C=)
c.1245C= (p.Asp415=)
c.*88C= (n.*88C=)
c.1251C= (p.Asp417=)
c.1227C= (p.Asp409=)
c.1293C= (p.Asp431=)
c.810C= (p.Asp270=)
c.834C= (p.Asp278=)
5g.162153194C>GCA362183567GABRG2c.1255C>G
c.1350C>G (p.Asp450Glu)
c.1313C>G
n.508C>G
c.945C>G (p.Asp315Glu)
c.969C>G (p.Asp323Glu)
c.*3851C>G (n.*3851C>G)
c.1131C>G
c.621C>G (p.Asp207Glu)
c.1230C>G (p.Asp410Glu)
c.1254C>G (p.Asp418Glu)
c.1917C>G (n.1917C>G)
c.*1435C>G (n.*1435C>G)
c.*454C>G (n.*454C>G)
c.1188C>G (p.Asp396Glu)
c.1164C>G (p.Asp388Glu)
n.528C>G
n.6201C>G
c.692C>G
c.1167C>G (p.Asp389Glu)
c.1323C>G (p.Asp441Glu)
c.1374C>G (p.Asp458Glu)
c.*832C>G (n.*832C>G)
c.1351C>G (n.1351C>G)
c.1245C>G (p.Asp415Glu)
c.*88C>G (n.*88C>G)
c.1251C>G (p.Asp417Glu)
c.1227C>G (p.Asp409Glu)
c.1293C>G (p.Asp431Glu)
c.810C>G (p.Asp270Glu)
c.834C>G (p.Asp278Glu)
5g.162153194C>TCA3544981GABRG2c.1255C>T
c.1350C>T (p.Asp450=)
c.1313C>T
n.508C>T
c.945C>T (p.Asp315=)
c.969C>T (p.Asp323=)
c.*3851C>T (n.*3851C>T)
c.1131C>T
c.621C>T (p.Asp207=)
c.1230C>T (p.Asp410=)
c.1254C>T (p.Asp418=)
c.1917C>T (n.1917C>T)
c.*1435C>T (n.*1435C>T)
c.*454C>T (n.*454C>T)
c.1188C>T (p.Asp396=)
c.1164C>T (p.Asp388=)
n.528C>T
n.6201C>T
c.692C>T
c.1167C>T (p.Asp389=)
c.1323C>T (p.Asp441=)
c.1374C>T (p.Asp458=)
c.*832C>T (n.*832C>T)
c.1351C>T (n.1351C>T)
c.1245C>T (p.Asp415=)
c.*88C>T (n.*88C>T)
c.1251C>T (p.Asp417=)
c.1227C>T (p.Asp409=)
c.1293C>T (p.Asp431=)
c.810C>T (p.Asp270=)
c.834C>T (p.Asp278=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.162153195G>ACA3544982GABRG2c.1256G>A
c.1351G>A (p.Gly451Ser)
c.1314G>A
n.509G>A
c.946G>A (p.Gly316Ser)
c.970G>A (p.Gly324Ser)
c.*3852G>A (n.*3852G>A)
c.1132G>A
c.622G>A (p.Gly208Ser)
c.1231G>A (p.Gly411Ser)
c.1255G>A (p.Gly419Ser)
c.1918G>A (n.1918G>A)
c.*1436G>A (n.*1436G>A)
c.*455G>A (n.*455G>A)
c.1189G>A (p.Gly397Ser)
c.1165G>A (p.Gly389Ser)
n.529G>A
n.6202G>A
c.693G>A
c.1168G>A (p.Gly390Ser)
c.1324G>A (p.Gly442Ser)
c.1375G>A (p.Gly459Ser)
c.*833G>A (n.*833G>A)
c.1352G>A (n.1352G>A)
c.1246G>A (p.Gly416Ser)
c.*89G>A (n.*89G>A)
c.1252G>A (p.Gly418Ser)
c.1228G>A (p.Gly410Ser)
c.1294G>A (p.Gly432Ser)
c.811G>A (p.Gly271Ser)
c.835G>A (p.Gly279Ser)
 dbSNP ExAC gnomAD v3 gnomAD v4
5g.162153195G>CCA362183569GABRG2c.1256G>C
c.1351G>C (p.Gly451Arg)
c.1314G>C
n.509G>C
c.946G>C (p.Gly316Arg)
c.970G>C (p.Gly324Arg)
c.*3852G>C (n.*3852G>C)
c.1132G>C
c.622G>C (p.Gly208Arg)
c.1231G>C (p.Gly411Arg)
c.1255G>C (p.Gly419Arg)
c.1918G>C (n.1918G>C)
c.*1436G>C (n.*1436G>C)
c.*455G>C (n.*455G>C)
c.1189G>C (p.Gly397Arg)
c.1165G>C (p.Gly389Arg)
n.529G>C
n.6202G>C
c.693G>C
c.1168G>C (p.Gly390Arg)
c.1324G>C (p.Gly442Arg)
c.1375G>C (p.Gly459Arg)
c.*833G>C (n.*833G>C)
c.1352G>C (n.1352G>C)
c.1246G>C (p.Gly416Arg)
c.*89G>C (n.*89G>C)
c.1252G>C (p.Gly418Arg)
c.1228G>C (p.Gly410Arg)
c.1294G>C (p.Gly432Arg)
c.811G>C (p.Gly271Arg)
c.835G>C (p.Gly279Arg)
5g.162153195G=CA1596382069GABRG2c.1256G=
c.1351G= (p.Gly451=)
c.1314G=
n.509G=
c.946G= (p.Gly316=)
c.970G= (p.Gly324=)
c.*3852G= (n.*3852G=)
c.1132G=
c.622G= (p.Gly208=)
c.1231G= (p.Gly411=)
c.1255G= (p.Gly419=)
c.1918G= (n.1918G=)
c.*1436G= (n.*1436G=)
c.*455G= (n.*455G=)
c.1189G= (p.Gly397=)
c.1165G= (p.Gly389=)
n.529G=
n.6202G=
c.693G=
c.1168G= (p.Gly390=)
c.1324G= (p.Gly442=)
c.1375G= (p.Gly459=)
c.*833G= (n.*833G=)
c.1352G= (n.1352G=)
c.1246G= (p.Gly416=)
c.*89G= (n.*89G=)
c.1252G= (p.Gly418=)
c.1228G= (p.Gly410=)
c.1294G= (p.Gly432=)
c.811G= (p.Gly271=)
c.835G= (p.Gly279=)
5g.162153195G>TCA362183568GABRG2c.1256G>T
c.1351G>T (p.Gly451Cys)
c.1314G>T
n.509G>T
c.946G>T (p.Gly316Cys)
c.970G>T (p.Gly324Cys)
c.*3852G>T (n.*3852G>T)
c.1132G>T
c.622G>T (p.Gly208Cys)
c.1231G>T (p.Gly411Cys)
c.1255G>T (p.Gly419Cys)
c.1918G>T (n.1918G>T)
c.*1436G>T (n.*1436G>T)
c.*455G>T (n.*455G>T)
c.1189G>T (p.Gly397Cys)
c.1165G>T (p.Gly389Cys)
n.529G>T
n.6202G>T
c.693G>T
c.1168G>T (p.Gly390Cys)
c.1324G>T (p.Gly442Cys)
c.1375G>T (p.Gly459Cys)
c.*833G>T (n.*833G>T)
c.1352G>T (n.1352G>T)
c.1246G>T (p.Gly416Cys)
c.*89G>T (n.*89G>T)
c.1252G>T (p.Gly418Cys)
c.1228G>T (p.Gly410Cys)
c.1294G>T (p.Gly432Cys)
c.811G>T (p.Gly271Cys)
c.835G>T (p.Gly279Cys)
 COSMIC
5g.162153196G>ACA3544983GABRG2c.1257G>A
c.1352G>A (p.Gly451Asp)
c.1315G>A
n.510G>A
c.947G>A (p.Gly316Asp)
c.971G>A (p.Gly324Asp)
c.*3853G>A (n.*3853G>A)
c.1133G>A
c.623G>A (p.Gly208Asp)
c.1232G>A (p.Gly411Asp)
c.1256G>A (p.Gly419Asp)
c.1919G>A (n.1919G>A)
c.*1437G>A (n.*1437G>A)
c.*456G>A (n.*456G>A)
c.1190G>A (p.Gly397Asp)
c.1166G>A (p.Gly389Asp)
n.530G>A
n.6203G>A
c.694G>A
c.1169G>A (p.Gly390Asp)
c.1325G>A (p.Gly442Asp)
c.1376G>A (p.Gly459Asp)
c.*834G>A (n.*834G>A)
c.1353G>A (n.1353G>A)
c.1247G>A (p.Gly416Asp)
c.*90G>A (n.*90G>A)
c.1253G>A (p.Gly418Asp)
c.1229G>A (p.Gly410Asp)
c.1295G>A (p.Gly432Asp)
c.812G>A (p.Gly271Asp)
c.836G>A (p.Gly279Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
5g.162153196G>CCA362183570GABRG2c.1257G>C
c.1352G>C (p.Gly451Ala)
c.1315G>C
n.510G>C
c.947G>C (p.Gly316Ala)
c.971G>C (p.Gly324Ala)
c.*3853G>C (n.*3853G>C)
c.1133G>C
c.623G>C (p.Gly208Ala)
c.1232G>C (p.Gly411Ala)
c.1256G>C (p.Gly419Ala)
c.1919G>C (n.1919G>C)
c.*1437G>C (n.*1437G>C)
c.*456G>C (n.*456G>C)
c.1190G>C (p.Gly397Ala)
c.1166G>C (p.Gly389Ala)
n.530G>C
n.6203G>C
c.694G>C
c.1169G>C (p.Gly390Ala)
c.1325G>C (p.Gly442Ala)
c.1376G>C (p.Gly459Ala)
c.*834G>C (n.*834G>C)
c.1353G>C (n.1353G>C)
c.1247G>C (p.Gly416Ala)
c.*90G>C (n.*90G>C)
c.1253G>C (p.Gly418Ala)
c.1229G>C (p.Gly410Ala)
c.1295G>C (p.Gly432Ala)
c.812G>C (p.Gly271Ala)
c.836G>C (p.Gly279Ala)
5g.162153196G=CA1596382072GABRG2c.1257G=
c.1352G= (p.Gly451=)
c.1315G=
n.510G=
c.947G= (p.Gly316=)
c.971G= (p.Gly324=)
c.*3853G= (n.*3853G=)
c.1133G=
c.623G= (p.Gly208=)
c.1232G= (p.Gly411=)
c.1256G= (p.Gly419=)
c.1919G= (n.1919G=)
c.*1437G= (n.*1437G=)
c.*456G= (n.*456G=)
c.1190G= (p.Gly397=)
c.1166G= (p.Gly389=)
n.530G=
n.6203G=
c.694G=
c.1169G= (p.Gly390=)
c.1325G= (p.Gly442=)
c.1376G= (p.Gly459=)
c.*834G= (n.*834G=)
c.1353G= (n.1353G=)
c.1247G= (p.Gly416=)
c.*90G= (n.*90G=)
c.1253G= (p.Gly418=)
c.1229G= (p.Gly410=)
c.1295G= (p.Gly432=)
c.812G= (p.Gly271=)
c.836G= (p.Gly279=)
5g.162153196G>TCA362183571GABRG2c.1257G>T
c.1352G>T (p.Gly451Val)
c.1315G>T
n.510G>T
c.947G>T (p.Gly316Val)
c.971G>T (p.Gly324Val)
c.*3853G>T (n.*3853G>T)
c.1133G>T
c.623G>T (p.Gly208Val)
c.1232G>T (p.Gly411Val)
c.1256G>T (p.Gly419Val)
c.1919G>T (n.1919G>T)
c.*1437G>T (n.*1437G>T)
c.*456G>T (n.*456G>T)
c.1190G>T (p.Gly397Val)
c.1166G>T (p.Gly389Val)
n.530G>T
n.6203G>T
c.694G>T
c.1169G>T (p.Gly390Val)
c.1325G>T (p.Gly442Val)
c.1376G>T (p.Gly459Val)
c.*834G>T (n.*834G>T)
c.1353G>T (n.1353G>T)
c.1247G>T (p.Gly416Val)
c.*90G>T (n.*90G>T)
c.1253G>T (p.Gly418Val)
c.1229G>T (p.Gly410Val)
c.1295G>T (p.Gly432Val)
c.812G>T (p.Gly271Val)
c.836G>T (p.Gly279Val)
5g.162153197C>ACA447691785GABRG2c.1258C>A
c.1353C>A (p.Gly451=)
c.1316C>A
n.511C>A
c.948C>A (p.Gly316=)
c.972C>A (p.Gly324=)
c.*3854C>A (n.*3854C>A)
c.1134C>A
c.624C>A (p.Gly208=)
c.1233C>A (p.Gly411=)
c.1257C>A (p.Gly419=)
c.1920C>A (n.1920C>A)
c.*1438C>A (n.*1438C>A)
c.*457C>A (n.*457C>A)
c.1191C>A (p.Gly397=)
c.1167C>A (p.Gly389=)
n.531C>A
n.6204C>A
c.695C>A
c.1170C>A (p.Gly390=)
c.1326C>A (p.Gly442=)
c.1377C>A (p.Gly459=)
c.*835C>A (n.*835C>A)
c.1354C>A (n.1354C>A)
c.1248C>A (p.Gly416=)
c.*91C>A (n.*91C>A)
c.1254C>A (p.Gly418=)
c.1230C>A (p.Gly410=)
c.1296C>A (p.Gly432=)
c.813C>A (p.Gly271=)
c.837C>A (p.Gly279=)
5g.162153197C=CA1596382075GABRG2c.1258C=
c.1353C= (p.Gly451=)
c.1316C=
n.511C=
c.948C= (p.Gly316=)
c.972C= (p.Gly324=)
c.*3854C= (n.*3854C=)
c.1134C=
c.624C= (p.Gly208=)
c.1233C= (p.Gly411=)
c.1257C= (p.Gly419=)
c.1920C= (n.1920C=)
c.*1438C= (n.*1438C=)
c.*457C= (n.*457C=)
c.1191C= (p.Gly397=)
c.1167C= (p.Gly389=)
n.531C=
n.6204C=
c.695C=
c.1170C= (p.Gly390=)
c.1326C= (p.Gly442=)
c.1377C= (p.Gly459=)
c.*835C= (n.*835C=)
c.1354C= (n.1354C=)
c.1248C= (p.Gly416=)
c.*91C= (n.*91C=)
c.1254C= (p.Gly418=)
c.1230C= (p.Gly410=)
c.1296C= (p.Gly432=)
c.813C= (p.Gly271=)
c.837C= (p.Gly279=)
5g.162153197C>GCA447691786GABRG2c.1258C>G
c.1353C>G (p.Gly451=)
c.1316C>G
n.511C>G
c.948C>G (p.Gly316=)
c.972C>G (p.Gly324=)
c.*3854C>G (n.*3854C>G)
c.1134C>G
c.624C>G (p.Gly208=)
c.1233C>G (p.Gly411=)
c.1257C>G (p.Gly419=)
c.1920C>G (n.1920C>G)
c.*1438C>G (n.*1438C>G)
c.*457C>G (n.*457C>G)
c.1191C>G (p.Gly397=)
c.1167C>G (p.Gly389=)
n.531C>G
n.6204C>G
c.695C>G
c.1170C>G (p.Gly390=)
c.1326C>G (p.Gly442=)
c.1377C>G (p.Gly459=)
c.*835C>G (n.*835C>G)
c.1354C>G (n.1354C>G)
c.1248C>G (p.Gly416=)
c.*91C>G (n.*91C>G)
c.1254C>G (p.Gly418=)
c.1230C>G (p.Gly410=)
c.1296C>G (p.Gly432=)
c.813C>G (p.Gly271=)
c.837C>G (p.Gly279=)
5g.162153197C>TCA447691787GABRG2c.1258C>T
c.1353C>T (p.Gly451=)
c.1316C>T
n.511C>T
c.948C>T (p.Gly316=)
c.972C>T (p.Gly324=)
c.*3854C>T (n.*3854C>T)
c.1134C>T
c.624C>T (p.Gly208=)
c.1233C>T (p.Gly411=)
c.1257C>T (p.Gly419=)
c.1920C>T (n.1920C>T)
c.*1438C>T (n.*1438C>T)
c.*457C>T (n.*457C>T)
c.1191C>T (p.Gly397=)
c.1167C>T (p.Gly389=)
n.531C>T
n.6204C>T
c.695C>T
c.1170C>T (p.Gly390=)
c.1326C>T (p.Gly442=)
c.1377C>T (p.Gly459=)
c.*835C>T (n.*835C>T)
c.1354C>T (n.1354C>T)
c.1248C>T (p.Gly416=)
c.*91C>T (n.*91C>T)
c.1254C>T (p.Gly418=)
c.1230C>T (p.Gly410=)
c.1296C>T (p.Gly432=)
c.813C>T (p.Gly271=)
c.837C>T (p.Gly279=)
 ClinVar dbSNP
5g.162153198A>CCA362183572GABRG2c.1259A>C
c.1354A>C (p.Lys452Gln)
c.1317A>C
n.512A>C
c.949A>C (p.Lys317Gln)
c.973A>C (p.Lys325Gln)
c.*3855A>C (n.*3855A>C)
c.1135A>C
c.625A>C (p.Lys209Gln)
c.1234A>C (p.Lys412Gln)
c.1258A>C (p.Lys420Gln)
c.1921A>C (n.1921A>C)
c.*1439A>C (n.*1439A>C)
c.*458A>C (n.*458A>C)
c.1192A>C (p.Lys398Gln)
c.1168A>C (p.Lys390Gln)
n.532A>C
n.6205A>C
c.696A>C
c.1171A>C (p.Lys391Gln)
c.1327A>C (p.Lys443Gln)
c.1378A>C (p.Lys460Gln)
c.*836A>C (n.*836A>C)
c.1355A>C (n.1355A>C)
c.1249A>C (p.Lys417Gln)
c.*92A>C (n.*92A>C)
c.1255A>C (p.Lys419Gln)
c.1231A>C (p.Lys411Gln)
c.1297A>C (p.Lys433Gln)
c.814A>C (p.Lys272Gln)
c.838A>C (p.Lys280Gln)
5g.162153198A>GCA362183573GABRG2c.1259A>G
c.1354A>G (p.Lys452Glu)
c.1317A>G
n.512A>G
c.949A>G (p.Lys317Glu)
c.973A>G (p.Lys325Glu)
c.*3855A>G (n.*3855A>G)
c.1135A>G
c.625A>G (p.Lys209Glu)
c.1234A>G (p.Lys412Glu)
c.1258A>G (p.Lys420Glu)
c.1921A>G (n.1921A>G)
c.*1439A>G (n.*1439A>G)
c.*458A>G (n.*458A>G)
c.1192A>G (p.Lys398Glu)
c.1168A>G (p.Lys390Glu)
n.532A>G
n.6205A>G
c.696A>G
c.1171A>G (p.Lys391Glu)
c.1327A>G (p.Lys443Glu)
c.1378A>G (p.Lys460Glu)
c.*836A>G (n.*836A>G)
c.1355A>G (n.1355A>G)
c.1249A>G (p.Lys417Glu)
c.*92A>G (n.*92A>G)
c.1255A>G (p.Lys419Glu)
c.1231A>G (p.Lys411Glu)
c.1297A>G (p.Lys433Glu)
c.814A>G (p.Lys272Glu)
c.838A>G (p.Lys280Glu)
 gnomAD v4
5g.162153198A>TCA362183574GABRG2c.1259A>T
c.1354A>T (p.Lys452Ter)
c.1317A>T
n.512A>T
c.949A>T (p.Lys317Ter)
c.973A>T (p.Lys325Ter)
c.*3855A>T (n.*3855A>T)
c.1135A>T
c.625A>T (p.Lys209Ter)
c.1234A>T (p.Lys412Ter)
c.1258A>T (p.Lys420Ter)
c.1921A>T (n.1921A>T)
c.*1439A>T (n.*1439A>T)
c.*458A>T (n.*458A>T)
c.1192A>T (p.Lys398Ter)
c.1168A>T (p.Lys390Ter)
n.532A>T
n.6205A>T
c.696A>T
c.1171A>T (p.Lys391Ter)
c.1327A>T (p.Lys443Ter)
c.1378A>T (p.Lys460Ter)
c.*836A>T (n.*836A>T)
c.1355A>T (n.1355A>T)
c.1249A>T (p.Lys417Ter)
c.*92A>T (n.*92A>T)
c.1255A>T (p.Lys419Ter)
c.1231A>T (p.Lys411Ter)
c.1297A>T (p.Lys433Ter)
c.814A>T (p.Lys272Ter)
c.838A>T (p.Lys280Ter)
5g.162153199A>CCA362183576GABRG2c.1260A>C
c.1355A>C (p.Lys452Thr)
c.1318A>C
n.513A>C
c.950A>C (p.Lys317Thr)
c.974A>C (p.Lys325Thr)
c.*3856A>C (n.*3856A>C)
c.1136A>C
c.626A>C (p.Lys209Thr)
c.1235A>C (p.Lys412Thr)
c.1259A>C (p.Lys420Thr)
c.1922A>C (n.1922A>C)
c.*1440A>C (n.*1440A>C)
c.*459A>C (n.*459A>C)
c.1193A>C (p.Lys398Thr)
c.1169A>C (p.Lys390Thr)
n.533A>C
n.6206A>C
c.697A>C
c.1172A>C (p.Lys391Thr)
c.1328A>C (p.Lys443Thr)
c.1379A>C (p.Lys460Thr)
c.*837A>C (n.*837A>C)
c.1356A>C (n.1356A>C)
c.1250A>C (p.Lys417Thr)
c.*93A>C (n.*93A>C)
c.1256A>C (p.Lys419Thr)
c.1232A>C (p.Lys411Thr)
c.1298A>C (p.Lys433Thr)
c.815A>C (p.Lys272Thr)
c.839A>C (p.Lys280Thr)
5g.162153199A>GCA362183577GABRG2c.1260A>G
c.1355A>G (p.Lys452Arg)
c.1318A>G
n.513A>G
c.950A>G (p.Lys317Arg)
c.974A>G (p.Lys325Arg)
c.*3856A>G (n.*3856A>G)
c.1136A>G
c.626A>G (p.Lys209Arg)
c.1235A>G (p.Lys412Arg)
c.1259A>G (p.Lys420Arg)
c.1922A>G (n.1922A>G)
c.*1440A>G (n.*1440A>G)
c.*459A>G (n.*459A>G)
c.1193A>G (p.Lys398Arg)
c.1169A>G (p.Lys390Arg)
n.533A>G
n.6206A>G
c.697A>G
c.1172A>G (p.Lys391Arg)
c.1328A>G (p.Lys443Arg)
c.1379A>G (p.Lys460Arg)
c.*837A>G (n.*837A>G)
c.1356A>G (n.1356A>G)
c.1250A>G (p.Lys417Arg)
c.*93A>G (n.*93A>G)
c.1256A>G (p.Lys419Arg)
c.1232A>G (p.Lys411Arg)
c.1298A>G (p.Lys433Arg)
c.815A>G (p.Lys272Arg)
c.839A>G (p.Lys280Arg)
5g.162153199A>TCA362183578GABRG2c.1260A>T
c.1355A>T (p.Lys452Met)
c.1318A>T
n.513A>T
c.950A>T (p.Lys317Met)
c.974A>T (p.Lys325Met)
c.*3856A>T (n.*3856A>T)
c.1136A>T
c.626A>T (p.Lys209Met)
c.1235A>T (p.Lys412Met)
c.1259A>T (p.Lys420Met)
c.1922A>T (n.1922A>T)
c.*1440A>T (n.*1440A>T)
c.*459A>T (n.*459A>T)
c.1193A>T (p.Lys398Met)
c.1169A>T (p.Lys390Met)
n.533A>T
n.6206A>T
c.697A>T
c.1172A>T (p.Lys391Met)
c.1328A>T (p.Lys443Met)
c.1379A>T (p.Lys460Met)
c.*837A>T (n.*837A>T)
c.1356A>T (n.1356A>T)
c.1250A>T (p.Lys417Met)
c.*93A>T (n.*93A>T)
c.1256A>T (p.Lys419Met)
c.1232A>T (p.Lys411Met)
c.1298A>T (p.Lys433Met)
c.815A>T (p.Lys272Met)
c.839A>T (p.Lys280Met)
5g.162153200G>ACA447691789GABRG2c.1261G>A
c.1356G>A (p.Lys452=)
c.1319G>A
n.514G>A
c.951G>A (p.Lys317=)
c.975G>A (p.Lys325=)
c.*3857G>A (n.*3857G>A)
c.1137G>A
c.627G>A (p.Lys209=)
c.1236G>A (p.Lys412=)
c.1260G>A (p.Lys420=)
c.1923G>A (n.1923G>A)
c.*1441G>A (n.*1441G>A)
c.*460G>A (n.*460G>A)
c.1194G>A (p.Lys398=)
c.1170G>A (p.Lys390=)
n.534G>A
n.6207G>A
c.698G>A
c.1173G>A (p.Lys391=)
c.1329G>A (p.Lys443=)
c.1380G>A (p.Lys460=)
c.*838G>A (n.*838G>A)
c.1357G>A (n.1357G>A)
c.1251G>A (p.Lys417=)
c.*94G>A (n.*94G>A)
c.1257G>A (p.Lys419=)
c.1233G>A (p.Lys411=)
c.1299G>A (p.Lys433=)
c.816G>A (p.Lys272=)
c.840G>A (p.Lys280=)
 dbSNP gnomAD v2 gnomAD v4
5g.162153200G>CCA362183579GABRG2c.1261G>C
c.1356G>C (p.Lys452Asn)
c.1319G>C
n.514G>C
c.951G>C (p.Lys317Asn)
c.975G>C (p.Lys325Asn)
c.*3857G>C (n.*3857G>C)
c.1137G>C
c.627G>C (p.Lys209Asn)
c.1236G>C (p.Lys412Asn)
c.1260G>C (p.Lys420Asn)
c.1923G>C (n.1923G>C)
c.*1441G>C (n.*1441G>C)
c.*460G>C (n.*460G>C)
c.1194G>C (p.Lys398Asn)
c.1170G>C (p.Lys390Asn)
n.534G>C
n.6207G>C
c.698G>C
c.1173G>C (p.Lys391Asn)
c.1329G>C (p.Lys443Asn)
c.1380G>C (p.Lys460Asn)
c.*838G>C (n.*838G>C)
c.1357G>C (n.1357G>C)
c.1251G>C (p.Lys417Asn)
c.*94G>C (n.*94G>C)
c.1257G>C (p.Lys419Asn)
c.1233G>C (p.Lys411Asn)
c.1299G>C (p.Lys433Asn)
c.816G>C (p.Lys272Asn)
c.840G>C (p.Lys280Asn)
5g.162153200G=CA1596382079GABRG2c.1261G=
c.1356G= (p.Lys452=)
c.1319G=
n.514G=
c.951G= (p.Lys317=)
c.975G= (p.Lys325=)
c.*3857G= (n.*3857G=)
c.1137G=
c.627G= (p.Lys209=)
c.1236G= (p.Lys412=)
c.1260G= (p.Lys420=)
c.1923G= (n.1923G=)
c.*1441G= (n.*1441G=)
c.*460G= (n.*460G=)
c.1194G= (p.Lys398=)
c.1170G= (p.Lys390=)
n.534G=
n.6207G=
c.698G=
c.1173G= (p.Lys391=)
c.1329G= (p.Lys443=)
c.1380G= (p.Lys460=)
c.*838G= (n.*838G=)
c.1357G= (n.1357G=)
c.1251G= (p.Lys417=)
c.*94G= (n.*94G=)
c.1257G= (p.Lys419=)
c.1233G= (p.Lys411=)
c.1299G= (p.Lys433=)
c.816G= (p.Lys272=)
c.840G= (p.Lys280=)
5g.162153200G>TCA362183580GABRG2c.1261G>T
c.1356G>T (p.Lys452Asn)
c.1319G>T
n.514G>T
c.951G>T (p.Lys317Asn)
c.975G>T (p.Lys325Asn)
c.*3857G>T (n.*3857G>T)
c.1137G>T
c.627G>T (p.Lys209Asn)
c.1236G>T (p.Lys412Asn)
c.1260G>T (p.Lys420Asn)
c.1923G>T (n.1923G>T)
c.*1441G>T (n.*1441G>T)
c.*460G>T (n.*460G>T)
c.1194G>T (p.Lys398Asn)
c.1170G>T (p.Lys390Asn)
n.534G>T
n.6207G>T
c.698G>T
c.1173G>T (p.Lys391Asn)
c.1329G>T (p.Lys443Asn)
c.1380G>T (p.Lys460Asn)
c.*838G>T (n.*838G>T)
c.1357G>T (n.1357G>T)
c.1251G>T (p.Lys417Asn)
c.*94G>T (n.*94G>T)
c.1257G>T (p.Lys419Asn)
c.1233G>T (p.Lys411Asn)
c.1299G>T (p.Lys433Asn)
c.816G>T (p.Lys272Asn)
c.840G>T (p.Lys280Asn)
5g.162153201G>ACA362183583GABRG2c.1262G>A
c.1357G>A (p.Asp453Asn)
c.1320G>A
n.515G>A
c.952G>A (p.Asp318Asn)
c.976G>A (p.Asp326Asn)
c.*3858G>A (n.*3858G>A)
c.1138G>A
c.628G>A (p.Asp210Asn)
c.1237G>A (p.Asp413Asn)
c.1261G>A (p.Asp421Asn)
c.1924G>A (n.1924G>A)
c.*1442G>A (n.*1442G>A)
c.*461G>A (n.*461G>A)
c.1195G>A (p.Asp399Asn)
c.1171G>A (p.Asp391Asn)
n.535G>A
n.6208G>A
c.699G>A
c.1174G>A (p.Asp392Asn)
c.1330G>A (p.Asp444Asn)
c.1381G>A (p.Asp461Asn)
c.*839G>A (n.*839G>A)
c.1358G>A (n.1358G>A)
c.1252G>A (p.Asp418Asn)
c.*95G>A (n.*95G>A)
c.1258G>A (p.Asp420Asn)
c.1234G>A (p.Asp412Asn)
c.1300G>A (p.Asp434Asn)
c.817G>A (p.Asp273Asn)
c.841G>A (p.Asp281Asn)
 COSMIC
5g.162153201G>CCA362183581GABRG2c.1262G>C
c.1357G>C (p.Asp453His)
c.1320G>C
n.515G>C
c.952G>C (p.Asp318His)
c.976G>C (p.Asp326His)
c.*3858G>C (n.*3858G>C)
c.1138G>C
c.628G>C (p.Asp210His)
c.1237G>C (p.Asp413His)
c.1261G>C (p.Asp421His)
c.1924G>C (n.1924G>C)
c.*1442G>C (n.*1442G>C)
c.*461G>C (n.*461G>C)
c.1195G>C (p.Asp399His)
c.1171G>C (p.Asp391His)
n.535G>C
n.6208G>C
c.699G>C
c.1174G>C (p.Asp392His)
c.1330G>C (p.Asp444His)
c.1381G>C (p.Asp461His)
c.*839G>C (n.*839G>C)
c.1358G>C (n.1358G>C)
c.1252G>C (p.Asp418His)
c.*95G>C (n.*95G>C)
c.1258G>C (p.Asp420His)
c.1234G>C (p.Asp412His)
c.1300G>C (p.Asp434His)
c.817G>C (p.Asp273His)
c.841G>C (p.Asp281His)
5g.162153201G>TCA362183582GABRG2c.1262G>T
c.1357G>T (p.Asp453Tyr)
c.1320G>T
n.515G>T
c.952G>T (p.Asp318Tyr)
c.976G>T (p.Asp326Tyr)
c.*3858G>T (n.*3858G>T)
c.1138G>T
c.628G>T (p.Asp210Tyr)
c.1237G>T (p.Asp413Tyr)
c.1261G>T (p.Asp421Tyr)
c.1924G>T (n.1924G>T)
c.*1442G>T (n.*1442G>T)
c.*461G>T (n.*461G>T)
c.1195G>T (p.Asp399Tyr)
c.1171G>T (p.Asp391Tyr)
n.535G>T
n.6208G>T
c.699G>T
c.1174G>T (p.Asp392Tyr)
c.1330G>T (p.Asp444Tyr)
c.1381G>T (p.Asp461Tyr)
c.*839G>T (n.*839G>T)
c.1358G>T (n.1358G>T)
c.1252G>T (p.Asp418Tyr)
c.*95G>T (n.*95G>T)
c.1258G>T (p.Asp420Tyr)
c.1234G>T (p.Asp412Tyr)
c.1300G>T (p.Asp434Tyr)
c.817G>T (p.Asp273Tyr)
c.841G>T (p.Asp281Tyr)
5g.162153202A>CCA362183584GABRG2c.1263A>C
c.1358A>C (p.Asp453Ala)
c.1321A>C
n.516A>C
c.953A>C (p.Asp318Ala)
c.977A>C (p.Asp326Ala)
c.*3859A>C (n.*3859A>C)
c.1139A>C
c.629A>C (p.Asp210Ala)
c.1238A>C (p.Asp413Ala)
c.1262A>C (p.Asp421Ala)
c.1925A>C (n.1925A>C)
c.*1443A>C (n.*1443A>C)
c.*462A>C (n.*462A>C)
c.1196A>C (p.Asp399Ala)
c.1172A>C (p.Asp391Ala)
n.536A>C
n.6209A>C
c.700A>C
c.1175A>C (p.Asp392Ala)
c.1331A>C (p.Asp444Ala)
c.1382A>C (p.Asp461Ala)
c.*840A>C (n.*840A>C)
c.1359A>C (n.1359A>C)
c.1253A>C (p.Asp418Ala)
c.*96A>C (n.*96A>C)
c.1259A>C (p.Asp420Ala)
c.1235A>C (p.Asp412Ala)
c.1301A>C (p.Asp434Ala)
c.818A>C (p.Asp273Ala)
c.842A>C (p.Asp281Ala)
5g.162153202A>GCA362183585GABRG2c.1263A>G
c.1358A>G (p.Asp453Gly)
c.1321A>G
n.516A>G
c.953A>G (p.Asp318Gly)
c.977A>G (p.Asp326Gly)
c.*3859A>G (n.*3859A>G)
c.1139A>G
c.629A>G (p.Asp210Gly)
c.1238A>G (p.Asp413Gly)
c.1262A>G (p.Asp421Gly)
c.1925A>G (n.1925A>G)
c.*1443A>G (n.*1443A>G)
c.*462A>G (n.*462A>G)
c.1196A>G (p.Asp399Gly)
c.1172A>G (p.Asp391Gly)
n.536A>G
n.6209A>G
c.700A>G
c.1175A>G (p.Asp392Gly)
c.1331A>G (p.Asp444Gly)
c.1382A>G (p.Asp461Gly)
c.*840A>G (n.*840A>G)
c.1359A>G (n.1359A>G)
c.1253A>G (p.Asp418Gly)
c.*96A>G (n.*96A>G)
c.1259A>G (p.Asp420Gly)
c.1235A>G (p.Asp412Gly)
c.1301A>G (p.Asp434Gly)
c.818A>G (p.Asp273Gly)
c.842A>G (p.Asp281Gly)
 COSMIC
5g.162153202A>TCA362183586GABRG2c.1263A>T
c.1358A>T (p.Asp453Val)
c.1321A>T
n.516A>T
c.953A>T (p.Asp318Val)
c.977A>T (p.Asp326Val)
c.*3859A>T (n.*3859A>T)
c.1139A>T
c.629A>T (p.Asp210Val)
c.1238A>T (p.Asp413Val)
c.1262A>T (p.Asp421Val)
c.1925A>T (n.1925A>T)
c.*1443A>T (n.*1443A>T)
c.*462A>T (n.*462A>T)
c.1196A>T (p.Asp399Val)
c.1172A>T (p.Asp391Val)
n.536A>T
n.6209A>T
c.700A>T
c.1175A>T (p.Asp392Val)
c.1331A>T (p.Asp444Val)
c.1382A>T (p.Asp461Val)
c.*840A>T (n.*840A>T)
c.1359A>T (n.1359A>T)
c.1253A>T (p.Asp418Val)
c.*96A>T (n.*96A>T)
c.1259A>T (p.Asp420Val)
c.1235A>T (p.Asp412Val)
c.1301A>T (p.Asp434Val)
c.818A>T (p.Asp273Val)
c.842A>T (p.Asp281Val)
 gnomAD v4
5g.162153203C>ACA362183587GABRG2c.1264C>A
c.1359C>A (p.Asp453Glu)
c.1322C>A
n.517C>A
c.954C>A (p.Asp318Glu)
c.978C>A (p.Asp326Glu)
c.*3860C>A (n.*3860C>A)
c.1140C>A
c.630C>A (p.Asp210Glu)
c.1239C>A (p.Asp413Glu)
c.1263C>A (p.Asp421Glu)
c.1926C>A (n.1926C>A)
c.*1444C>A (n.*1444C>A)
c.*463C>A (n.*463C>A)
c.1197C>A (p.Asp399Glu)
c.1173C>A (p.Asp391Glu)
n.537C>A
n.6210C>A
c.701C>A
c.1176C>A (p.Asp392Glu)
c.1332C>A (p.Asp444Glu)
c.1383C>A (p.Asp461Glu)
c.*841C>A (n.*841C>A)
c.1360C>A (n.1360C>A)
c.1254C>A (p.Asp418Glu)
c.*97C>A (n.*97C>A)
c.1260C>A (p.Asp420Glu)
c.1236C>A (p.Asp412Glu)
c.1302C>A (p.Asp434Glu)
c.819C>A (p.Asp273Glu)
c.843C>A (p.Asp281Glu)
 COSMIC
5g.162153203C>GCA362183588GABRG2c.1264C>G
c.1359C>G (p.Asp453Glu)
c.1322C>G
n.517C>G
c.954C>G (p.Asp318Glu)
c.978C>G (p.Asp326Glu)
c.*3860C>G (n.*3860C>G)
c.1140C>G
c.630C>G (p.Asp210Glu)
c.1239C>G (p.Asp413Glu)
c.1263C>G (p.Asp421Glu)
c.1926C>G (n.1926C>G)
c.*1444C>G (n.*1444C>G)
c.*463C>G (n.*463C>G)
c.1197C>G (p.Asp399Glu)
c.1173C>G (p.Asp391Glu)
n.537C>G
n.6210C>G
c.701C>G
c.1176C>G (p.Asp392Glu)
c.1332C>G (p.Asp444Glu)
c.1383C>G (p.Asp461Glu)
c.*841C>G (n.*841C>G)
c.1360C>G (n.1360C>G)
c.1254C>G (p.Asp418Glu)
c.*97C>G (n.*97C>G)
c.1260C>G (p.Asp420Glu)
c.1236C>G (p.Asp412Glu)
c.1302C>G (p.Asp434Glu)
c.819C>G (p.Asp273Glu)
c.843C>G (p.Asp281Glu)
5g.162153203C>TCA447691792GABRG2c.1264C>T
c.1359C>T (p.Asp453=)
c.1322C>T
n.517C>T
c.954C>T (p.Asp318=)
c.978C>T (p.Asp326=)
c.*3860C>T (n.*3860C>T)
c.1140C>T
c.630C>T (p.Asp210=)
c.1239C>T (p.Asp413=)
c.1263C>T (p.Asp421=)
c.1926C>T (n.1926C>T)
c.*1444C>T (n.*1444C>T)
c.*463C>T (n.*463C>T)
c.1197C>T (p.Asp399=)
c.1173C>T (p.Asp391=)
n.537C>T
n.6210C>T
c.701C>T
c.1176C>T (p.Asp392=)
c.1332C>T (p.Asp444=)
c.1383C>T (p.Asp461=)
c.*841C>T (n.*841C>T)
c.1360C>T (n.1360C>T)
c.1254C>T (p.Asp418=)
c.*97C>T (n.*97C>T)
c.1260C>T (p.Asp420=)
c.1236C>T (p.Asp412=)
c.1302C>T (p.Asp434=)
c.819C>T (p.Asp273=)
c.843C>T (p.Asp281=)
5g.162153204T>ACA362183589GABRG2c.1265T>A
c.1360T>A (p.Cys454Ser)
c.1323T>A
n.518T>A
c.955T>A (p.Cys319Ser)
c.979T>A (p.Cys327Ser)
c.*3861T>A (n.*3861T>A)
c.1141T>A
c.631T>A (p.Cys211Ser)
c.1240T>A (p.Cys414Ser)
c.1264T>A (p.Cys422Ser)
c.1927T>A (n.1927T>A)
c.*1445T>A (n.*1445T>A)
c.*464T>A (n.*464T>A)
c.1198T>A (p.Cys400Ser)
c.1174T>A (p.Cys392Ser)
n.538T>A
n.6211T>A
c.702T>A
c.1177T>A (p.Cys393Ser)
c.1333T>A (p.Cys445Ser)
c.1384T>A (p.Cys462Ser)
c.*842T>A (n.*842T>A)
c.1361T>A (n.1361T>A)
c.1255T>A (p.Cys419Ser)
c.*98T>A (n.*98T>A)
c.1261T>A (p.Cys421Ser)
c.1237T>A (p.Cys413Ser)
c.1303T>A (p.Cys435Ser)
c.820T>A (p.Cys274Ser)
c.844T>A (p.Cys282Ser)
 COSMIC
5g.162153204T>CCA362183590GABRG2c.1265T>C
c.1360T>C (p.Cys454Arg)
c.1323T>C
n.518T>C
c.955T>C (p.Cys319Arg)
c.979T>C (p.Cys327Arg)
c.*3861T>C (n.*3861T>C)
c.1141T>C
c.631T>C (p.Cys211Arg)
c.1240T>C (p.Cys414Arg)
c.1264T>C (p.Cys422Arg)
c.1927T>C (n.1927T>C)
c.*1445T>C (n.*1445T>C)
c.*464T>C (n.*464T>C)
c.1198T>C (p.Cys400Arg)
c.1174T>C (p.Cys392Arg)
n.538T>C
n.6211T>C
c.702T>C
c.1177T>C (p.Cys393Arg)
c.1333T>C (p.Cys445Arg)
c.1384T>C (p.Cys462Arg)
c.*842T>C (n.*842T>C)
c.1361T>C (n.1361T>C)
c.1255T>C (p.Cys419Arg)
c.*98T>C (n.*98T>C)
c.1261T>C (p.Cys421Arg)
c.1237T>C (p.Cys413Arg)
c.1303T>C (p.Cys435Arg)
c.820T>C (p.Cys274Arg)
c.844T>C (p.Cys282Arg)
5g.162153204T>GCA362183591GABRG2c.1265T>G
c.1360T>G (p.Cys454Gly)
c.1323T>G
n.518T>G
c.955T>G (p.Cys319Gly)
c.979T>G (p.Cys327Gly)
c.*3861T>G (n.*3861T>G)
c.1141T>G
c.631T>G (p.Cys211Gly)
c.1240T>G (p.Cys414Gly)
c.1264T>G (p.Cys422Gly)
c.1927T>G (n.1927T>G)
c.*1445T>G (n.*1445T>G)
c.*464T>G (n.*464T>G)
c.1198T>G (p.Cys400Gly)
c.1174T>G (p.Cys392Gly)
n.538T>G
n.6211T>G
c.702T>G
c.1177T>G (p.Cys393Gly)
c.1333T>G (p.Cys445Gly)
c.1384T>G (p.Cys462Gly)
c.*842T>G (n.*842T>G)
c.1361T>G (n.1361T>G)
c.1255T>G (p.Cys419Gly)
c.*98T>G (n.*98T>G)
c.1261T>G (p.Cys421Gly)
c.1237T>G (p.Cys413Gly)
c.1303T>G (p.Cys435Gly)
c.820T>G (p.Cys274Gly)
c.844T>G (p.Cys282Gly)
5g.162153205G>ACA362183592GABRG2c.1266G>A
c.1361G>A (p.Cys454Tyr)
c.1324G>A
n.519G>A
c.956G>A (p.Cys319Tyr)
c.980G>A (p.Cys327Tyr)
c.*3862G>A (n.*3862G>A)
c.1142G>A
c.632G>A (p.Cys211Tyr)
c.1241G>A (p.Cys414Tyr)
c.1265G>A (p.Cys422Tyr)
c.1928G>A (n.1928G>A)
c.*1446G>A (n.*1446G>A)
c.*465G>A (n.*465G>A)
c.1199G>A (p.Cys400Tyr)
c.1175G>A (p.Cys392Tyr)
n.539G>A
n.6212G>A
c.703G>A
c.1178G>A (p.Cys393Tyr)
c.1334G>A (p.Cys445Tyr)
c.1385G>A (p.Cys462Tyr)
c.*843G>A (n.*843G>A)
c.1362G>A (n.1362G>A)
c.1256G>A (p.Cys419Tyr)
c.*99G>A (n.*99G>A)
c.1262G>A (p.Cys421Tyr)
c.1238G>A (p.Cys413Tyr)
c.1304G>A (p.Cys435Tyr)
c.821G>A (p.Cys274Tyr)
c.845G>A (p.Cys282Tyr)
5g.162153205G>CCA362183593GABRG2c.1266G>C
c.1361G>C (p.Cys454Ser)
c.1324G>C
n.519G>C
c.956G>C (p.Cys319Ser)
c.980G>C (p.Cys327Ser)
c.*3862G>C (n.*3862G>C)
c.1142G>C
c.632G>C (p.Cys211Ser)
c.1241G>C (p.Cys414Ser)
c.1265G>C (p.Cys422Ser)
c.1928G>C (n.1928G>C)
c.*1446G>C (n.*1446G>C)
c.*465G>C (n.*465G>C)
c.1199G>C (p.Cys400Ser)
c.1175G>C (p.Cys392Ser)
n.539G>C
n.6212G>C
c.703G>C
c.1178G>C (p.Cys393Ser)
c.1334G>C (p.Cys445Ser)
c.1385G>C (p.Cys462Ser)
c.*843G>C (n.*843G>C)
c.1362G>C (n.1362G>C)
c.1256G>C (p.Cys419Ser)
c.*99G>C (n.*99G>C)
c.1262G>C (p.Cys421Ser)
c.1238G>C (p.Cys413Ser)
c.1304G>C (p.Cys435Ser)
c.821G>C (p.Cys274Ser)
c.845G>C (p.Cys282Ser)
5g.162153205G>TCA362183594GABRG2c.1266G>T
c.1361G>T (p.Cys454Phe)
c.1324G>T
n.519G>T
c.956G>T (p.Cys319Phe)
c.980G>T (p.Cys327Phe)
c.*3862G>T (n.*3862G>T)
c.1142G>T
c.632G>T (p.Cys211Phe)
c.1241G>T (p.Cys414Phe)
c.1265G>T (p.Cys422Phe)
c.1928G>T (n.1928G>T)
c.*1446G>T (n.*1446G>T)
c.*465G>T (n.*465G>T)
c.1199G>T (p.Cys400Phe)
c.1175G>T (p.Cys392Phe)
n.539G>T
n.6212G>T
c.703G>T
c.1178G>T (p.Cys393Phe)
c.1334G>T (p.Cys445Phe)
c.1385G>T (p.Cys462Phe)
c.*843G>T (n.*843G>T)
c.1362G>T (n.1362G>T)
c.1256G>T (p.Cys419Phe)
c.*99G>T (n.*99G>T)
c.1262G>T (p.Cys421Phe)
c.1238G>T (p.Cys413Phe)
c.1304G>T (p.Cys435Phe)
c.821G>T (p.Cys274Phe)
c.845G>T (p.Cys282Phe)
5g.162153206T>ACA362183596GABRG2c.1267T>A
c.1362T>A (p.Cys454Ter)
c.1325T>A
n.520T>A
c.957T>A (p.Cys319Ter)
c.981T>A (p.Cys327Ter)
c.*3863T>A (n.*3863T>A)
c.1143T>A
c.633T>A (p.Cys211Ter)
c.1242T>A (p.Cys414Ter)
c.1266T>A (p.Cys422Ter)
c.1929T>A (n.1929T>A)
c.*1447T>A (n.*1447T>A)
c.*466T>A (n.*466T>A)
c.1200T>A (p.Cys400Ter)
c.1176T>A (p.Cys392Ter)
n.540T>A
n.6213T>A
c.704T>A
c.1179T>A (p.Cys393Ter)
c.1335T>A (p.Cys445Ter)
c.1386T>A (p.Cys462Ter)
c.*844T>A (n.*844T>A)
c.1363T>A (n.1363T>A)
c.1257T>A (p.Cys419Ter)
c.*100T>A (n.*100T>A)
c.1263T>A (p.Cys421Ter)
c.1239T>A (p.Cys413Ter)
c.1305T>A (p.Cys435Ter)
c.822T>A (p.Cys274Ter)
c.846T>A (p.Cys282Ter)
5g.162153206T>CCA447691794GABRG2c.1267T>C
c.1362T>C (p.Cys454=)
c.1325T>C
n.520T>C
c.957T>C (p.Cys319=)
c.981T>C (p.Cys327=)
c.*3863T>C (n.*3863T>C)
c.1143T>C
c.633T>C (p.Cys211=)
c.1242T>C (p.Cys414=)
c.1266T>C (p.Cys422=)
c.1929T>C (n.1929T>C)
c.*1447T>C (n.*1447T>C)
c.*466T>C (n.*466T>C)
c.1200T>C (p.Cys400=)
c.1176T>C (p.Cys392=)
n.540T>C
n.6213T>C
c.704T>C
c.1179T>C (p.Cys393=)
c.1335T>C (p.Cys445=)
c.1386T>C (p.Cys462=)
c.*844T>C (n.*844T>C)
c.1363T>C (n.1363T>C)
c.1257T>C (p.Cys419=)
c.*100T>C (n.*100T>C)
c.1263T>C (p.Cys421=)
c.1239T>C (p.Cys413=)
c.1305T>C (p.Cys435=)
c.822T>C (p.Cys274=)
c.846T>C (p.Cys282=)
 dbSNP gnomAD v4
5g.162153206T>GCA362183595GABRG2c.1267T>G
c.1362T>G (p.Cys454Trp)
c.1325T>G
n.520T>G
c.957T>G (p.Cys319Trp)
c.981T>G (p.Cys327Trp)
c.*3863T>G (n.*3863T>G)
c.1143T>G
c.633T>G (p.Cys211Trp)
c.1242T>G (p.Cys414Trp)
c.1266T>G (p.Cys422Trp)
c.1929T>G (n.1929T>G)
c.*1447T>G (n.*1447T>G)
c.*466T>G (n.*466T>G)
c.1200T>G (p.Cys400Trp)
c.1176T>G (p.Cys392Trp)
n.540T>G
n.6213T>G
c.704T>G
c.1179T>G (p.Cys393Trp)
c.1335T>G (p.Cys445Trp)
c.1386T>G (p.Cys462Trp)
c.*844T>G (n.*844T>G)
c.1363T>G (n.1363T>G)
c.1257T>G (p.Cys419Trp)
c.*100T>G (n.*100T>G)
c.1263T>G (p.Cys421Trp)
c.1239T>G (p.Cys413Trp)
c.1305T>G (p.Cys435Trp)
c.822T>G (p.Cys274Trp)
c.846T>G (p.Cys282Trp)
5g.162153206T=CA1596382083GABRG2c.1267T=
c.1362T= (p.Cys454=)
c.1325T=
n.520T=
c.957T= (p.Cys319=)
c.981T= (p.Cys327=)
c.*3863T= (n.*3863T=)
c.1143T=
c.633T= (p.Cys211=)
c.1242T= (p.Cys414=)
c.1266T= (p.Cys422=)
c.1929T= (n.1929T=)
c.*1447T= (n.*1447T=)
c.*466T= (n.*466T=)
c.1200T= (p.Cys400=)
c.1176T= (p.Cys392=)
n.540T=
n.6213T=
c.704T=
c.1179T= (p.Cys393=)
c.1335T= (p.Cys445=)
c.1386T= (p.Cys462=)
c.*844T= (n.*844T=)
c.1363T= (n.1363T=)
c.1257T= (p.Cys419=)
c.*100T= (n.*100T=)
c.1263T= (p.Cys421=)
c.1239T= (p.Cys413=)
c.1305T= (p.Cys435=)
c.822T= (p.Cys274=)
c.846T= (p.Cys282=)
5g.162153207G>ACA362183597GABRG2c.1268G>A
c.1363G>A (p.Ala455Thr)
c.1326G>A
n.521G>A
c.958G>A (p.Ala320Thr)
c.982G>A (p.Ala328Thr)
c.*3864G>A (n.*3864G>A)
c.1144G>A
c.634G>A (p.Ala212Thr)
c.1243G>A (p.Ala415Thr)
c.1267G>A (p.Ala423Thr)
c.1930G>A (n.1930G>A)
c.*1448G>A (n.*1448G>A)
c.*467G>A (n.*467G>A)
c.1201G>A (p.Ala401Thr)
c.1177G>A (p.Ala393Thr)
n.541G>A
n.6214G>A
c.705G>A
c.1180G>A (p.Ala394Thr)
c.1336G>A (p.Ala446Thr)
c.1387G>A (p.Ala463Thr)
c.*845G>A (n.*845G>A)
c.1364G>A (n.1364G>A)
c.1258G>A (p.Ala420Thr)
c.*101G>A (n.*101G>A)
c.1264G>A (p.Ala422Thr)
c.1240G>A (p.Ala414Thr)
c.1306G>A (p.Ala436Thr)
c.823G>A (p.Ala275Thr)
c.847G>A (p.Ala283Thr)
5g.162153207G>CCA362183598GABRG2c.1268G>C
c.1363G>C (p.Ala455Pro)
c.1326G>C
n.521G>C
c.958G>C (p.Ala320Pro)
c.982G>C (p.Ala328Pro)
c.*3864G>C (n.*3864G>C)
c.1144G>C
c.634G>C (p.Ala212Pro)
c.1243G>C (p.Ala415Pro)
c.1267G>C (p.Ala423Pro)
c.1930G>C (n.1930G>C)
c.*1448G>C (n.*1448G>C)
c.*467G>C (n.*467G>C)
c.1201G>C (p.Ala401Pro)
c.1177G>C (p.Ala393Pro)
n.541G>C
n.6214G>C
c.705G>C
c.1180G>C (p.Ala394Pro)
c.1336G>C (p.Ala446Pro)
c.1387G>C (p.Ala463Pro)
c.*845G>C (n.*845G>C)
c.1364G>C (n.1364G>C)
c.1258G>C (p.Ala420Pro)
c.*101G>C (n.*101G>C)
c.1264G>C (p.Ala422Pro)
c.1240G>C (p.Ala414Pro)
c.1306G>C (p.Ala436Pro)
c.823G>C (p.Ala275Pro)
c.847G>C (p.Ala283Pro)
5g.162153207G>TCA362183599GABRG2c.1268G>T
c.1363G>T (p.Ala455Ser)
c.1326G>T
n.521G>T
c.958G>T (p.Ala320Ser)
c.982G>T (p.Ala328Ser)
c.*3864G>T (n.*3864G>T)
c.1144G>T
c.634G>T (p.Ala212Ser)
c.1243G>T (p.Ala415Ser)
c.1267G>T (p.Ala423Ser)
c.1930G>T (n.1930G>T)
c.*1448G>T (n.*1448G>T)
c.*467G>T (n.*467G>T)
c.1201G>T (p.Ala401Ser)
c.1177G>T (p.Ala393Ser)
n.541G>T
n.6214G>T
c.705G>T
c.1180G>T (p.Ala394Ser)
c.1336G>T (p.Ala446Ser)
c.1387G>T (p.Ala463Ser)
c.*845G>T (n.*845G>T)
c.1364G>T (n.1364G>T)
c.1258G>T (p.Ala420Ser)
c.*101G>T (n.*101G>T)
c.1264G>T (p.Ala422Ser)
c.1240G>T (p.Ala414Ser)
c.1306G>T (p.Ala436Ser)
c.823G>T (p.Ala275Ser)
c.847G>T (p.Ala283Ser)
5g.162153208C>ACA362183600GABRG2c.1269C>A
c.1364C>A (p.Ala455Asp)
c.1327C>A
n.522C>A
c.959C>A (p.Ala320Asp)
c.983C>A (p.Ala328Asp)
c.*3865C>A (n.*3865C>A)
c.1145C>A
c.635C>A (p.Ala212Asp)
c.1244C>A (p.Ala415Asp)
c.1268C>A (p.Ala423Asp)
c.1931C>A (n.1931C>A)
c.*1449C>A (n.*1449C>A)
c.*468C>A (n.*468C>A)
c.1202C>A (p.Ala401Asp)
c.1178C>A (p.Ala393Asp)
n.542C>A
n.6215C>A
c.706C>A
c.1181C>A (p.Ala394Asp)
c.1337C>A (p.Ala446Asp)
c.1388C>A (p.Ala463Asp)
c.*846C>A (n.*846C>A)
c.1365C>A (n.1365C>A)
c.1259C>A (p.Ala420Asp)
c.*102C>A (n.*102C>A)
c.1265C>A (p.Ala422Asp)
c.1241C>A (p.Ala414Asp)
c.1307C>A (p.Ala436Asp)
c.824C>A (p.Ala275Asp)
c.848C>A (p.Ala283Asp)
5g.162153208C>GCA362183601GABRG2c.1269C>G
c.1364C>G (p.Ala455Gly)
c.1327C>G
n.522C>G
c.959C>G (p.Ala320Gly)
c.983C>G (p.Ala328Gly)
c.*3865C>G (n.*3865C>G)
c.1145C>G
c.635C>G (p.Ala212Gly)
c.1244C>G (p.Ala415Gly)
c.1268C>G (p.Ala423Gly)
c.1931C>G (n.1931C>G)
c.*1449C>G (n.*1449C>G)
c.*468C>G (n.*468C>G)
c.1202C>G (p.Ala401Gly)
c.1178C>G (p.Ala393Gly)
n.542C>G
n.6215C>G
c.706C>G
c.1181C>G (p.Ala394Gly)
c.1337C>G (p.Ala446Gly)
c.1388C>G (p.Ala463Gly)
c.*846C>G (n.*846C>G)
c.1365C>G (n.1365C>G)
c.1259C>G (p.Ala420Gly)
c.*102C>G (n.*102C>G)
c.1265C>G (p.Ala422Gly)
c.1241C>G (p.Ala414Gly)
c.1307C>G (p.Ala436Gly)
c.824C>G (p.Ala275Gly)
c.848C>G (p.Ala283Gly)
5g.162153208C>TCA362183602GABRG2c.1269C>T
c.1364C>T (p.Ala455Val)
c.1327C>T
n.522C>T
c.959C>T (p.Ala320Val)
c.983C>T (p.Ala328Val)
c.*3865C>T (n.*3865C>T)
c.1145C>T
c.635C>T (p.Ala212Val)
c.1244C>T (p.Ala415Val)
c.1268C>T (p.Ala423Val)
c.1931C>T (n.1931C>T)
c.*1449C>T (n.*1449C>T)
c.*468C>T (n.*468C>T)
c.1202C>T (p.Ala401Val)
c.1178C>T (p.Ala393Val)
n.542C>T
n.6215C>T
c.706C>T
c.1181C>T (p.Ala394Val)
c.1337C>T (p.Ala446Val)
c.1388C>T (p.Ala463Val)
c.*846C>T (n.*846C>T)
c.1365C>T (n.1365C>T)
c.1259C>T (p.Ala420Val)
c.*102C>T (n.*102C>T)
c.1265C>T (p.Ala422Val)
c.1241C>T (p.Ala414Val)
c.1307C>T (p.Ala436Val)
c.824C>T (p.Ala275Val)
c.848C>T (p.Ala283Val)
 ClinVar
5g.162153209C>ACA447691796GABRG2c.1270C>A
c.1365C>A (p.Ala455=)
c.1328C>A
n.523C>A
c.960C>A (p.Ala320=)
c.984C>A (p.Ala328=)
c.*3866C>A (n.*3866C>A)
c.1146C>A
c.636C>A (p.Ala212=)
c.1245C>A (p.Ala415=)
c.1269C>A (p.Ala423=)
c.1932C>A (n.1932C>A)
c.*1450C>A (n.*1450C>A)
c.*469C>A (n.*469C>A)
c.1203C>A (p.Ala401=)
c.1179C>A (p.Ala393=)
n.543C>A
n.6216C>A
c.707C>A
c.1182C>A (p.Ala394=)
c.1338C>A (p.Ala446=)
c.1389C>A (p.Ala463=)
c.*847C>A (n.*847C>A)
c.1366C>A (n.1366C>A)
c.1260C>A (p.Ala420=)
c.*103C>A (n.*103C>A)
c.1266C>A (p.Ala422=)
c.1242C>A (p.Ala414=)
c.1308C>A (p.Ala436=)
c.825C>A (p.Ala275=)
c.849C>A (p.Ala283=)
5g.162153209C=CA1596382085GABRG2c.1270C=
c.1365C= (p.Ala455=)
c.1328C=
n.523C=
c.960C= (p.Ala320=)
c.984C= (p.Ala328=)
c.*3866C= (n.*3866C=)
c.1146C=
c.636C= (p.Ala212=)
c.1245C= (p.Ala415=)
c.1269C= (p.Ala423=)
c.1932C= (n.1932C=)
c.*1450C= (n.*1450C=)
c.*469C= (n.*469C=)
c.1203C= (p.Ala401=)
c.1179C= (p.Ala393=)
n.543C=
n.6216C=
c.707C=
c.1182C= (p.Ala394=)
c.1338C= (p.Ala446=)
c.1389C= (p.Ala463=)
c.*847C= (n.*847C=)
c.1366C= (n.1366C=)
c.1260C= (p.Ala420=)
c.*103C= (n.*103C=)
c.1266C= (p.Ala422=)
c.1242C= (p.Ala414=)
c.1308C= (p.Ala436=)
c.825C= (p.Ala275=)
c.849C= (p.Ala283=)
5g.162153209C>GCA447691798GABRG2c.1270C>G
c.1365C>G (p.Ala455=)
c.1328C>G
n.523C>G
c.960C>G (p.Ala320=)
c.984C>G (p.Ala328=)
c.*3866C>G (n.*3866C>G)
c.1146C>G
c.636C>G (p.Ala212=)
c.1245C>G (p.Ala415=)
c.1269C>G (p.Ala423=)
c.1932C>G (n.1932C>G)
c.*1450C>G (n.*1450C>G)
c.*469C>G (n.*469C>G)
c.1203C>G (p.Ala401=)
c.1179C>G (p.Ala393=)
n.543C>G
n.6216C>G
c.707C>G
c.1182C>G (p.Ala394=)
c.1338C>G (p.Ala446=)
c.1389C>G (p.Ala463=)
c.*847C>G (n.*847C>G)
c.1366C>G (n.1366C>G)
c.1260C>G (p.Ala420=)
c.*103C>G (n.*103C>G)
c.1266C>G (p.Ala422=)
c.1242C>G (p.Ala414=)
c.1308C>G (p.Ala436=)
c.825C>G (p.Ala275=)
c.849C>G (p.Ala283=)
5g.162153209C>TCA447691797GABRG2c.1270C>T
c.1365C>T (p.Ala455=)
c.1328C>T
n.523C>T
c.960C>T (p.Ala320=)
c.984C>T (p.Ala328=)
c.*3866C>T (n.*3866C>T)
c.1146C>T
c.636C>T (p.Ala212=)
c.1245C>T (p.Ala415=)
c.1269C>T (p.Ala423=)
c.1932C>T (n.1932C>T)
c.*1450C>T (n.*1450C>T)
c.*469C>T (n.*469C>T)
c.1203C>T (p.Ala401=)
c.1179C>T (p.Ala393=)
n.543C>T
n.6216C>T
c.707C>T
c.1182C>T (p.Ala394=)
c.1338C>T (p.Ala446=)
c.1389C>T (p.Ala463=)
c.*847C>T (n.*847C>T)
c.1366C>T (n.1366C>T)
c.1260C>T (p.Ala420=)
c.*103C>T (n.*103C>T)
c.1266C>T (p.Ala422=)
c.1242C>T (p.Ala414=)
c.1308C>T (p.Ala436=)
c.825C>T (p.Ala275=)
c.849C>T (p.Ala283=)
 dbSNP gnomAD v3 gnomAD v4
5g.162153210A>CCA362183605GABRG2c.1271A>C
c.1366A>C (p.Ser456Arg)
c.1329A>C
n.524A>C
c.961A>C (p.Ser321Arg)
c.985A>C (p.Ser329Arg)
c.*3867A>C (n.*3867A>C)
c.1147A>C
c.637A>C (p.Ser213Arg)
c.1246A>C (p.Ser416Arg)
c.1270A>C (p.Ser424Arg)
c.1933A>C (n.1933A>C)
c.*1451A>C (n.*1451A>C)
c.*470A>C (n.*470A>C)
c.1204A>C (p.Ser402Arg)
c.1180A>C (p.Ser394Arg)
n.544A>C
n.6217A>C
c.708A>C
c.1183A>C (p.Ser395Arg)
c.1339A>C (p.Ser447Arg)
c.1390A>C (p.Ser464Arg)
c.*848A>C (n.*848A>C)
c.1367A>C (n.1367A>C)
c.1261A>C (p.Ser421Arg)
c.*104A>C (n.*104A>C)
c.1267A>C (p.Ser423Arg)
c.1243A>C (p.Ser415Arg)
c.1309A>C (p.Ser437Arg)
c.826A>C (p.Ser276Arg)
c.850A>C (p.Ser284Arg)
5g.162153210A>GCA362183603GABRG2c.1271A>G
c.1366A>G (p.Ser456Gly)
c.1329A>G
n.524A>G
c.961A>G (p.Ser321Gly)
c.985A>G (p.Ser329Gly)
c.*3867A>G (n.*3867A>G)
c.1147A>G
c.637A>G (p.Ser213Gly)
c.1246A>G (p.Ser416Gly)
c.1270A>G (p.Ser424Gly)
c.1933A>G (n.1933A>G)
c.*1451A>G (n.*1451A>G)
c.*470A>G (n.*470A>G)
c.1204A>G (p.Ser402Gly)
c.1180A>G (p.Ser394Gly)
n.544A>G
n.6217A>G
c.708A>G
c.1183A>G (p.Ser395Gly)
c.1339A>G (p.Ser447Gly)
c.1390A>G (p.Ser464Gly)
c.*848A>G (n.*848A>G)
c.1367A>G (n.1367A>G)
c.1261A>G (p.Ser421Gly)
c.*104A>G (n.*104A>G)
c.1267A>G (p.Ser423Gly)
c.1243A>G (p.Ser415Gly)
c.1309A>G (p.Ser437Gly)
c.826A>G (p.Ser276Gly)
c.850A>G (p.Ser284Gly)
5g.162153210A>TCA362183604GABRG2c.1271A>T
c.1366A>T (p.Ser456Cys)
c.1329A>T
n.524A>T
c.961A>T (p.Ser321Cys)
c.985A>T (p.Ser329Cys)
c.*3867A>T (n.*3867A>T)
c.1147A>T
c.637A>T (p.Ser213Cys)
c.1246A>T (p.Ser416Cys)
c.1270A>T (p.Ser424Cys)
c.1933A>T (n.1933A>T)
c.*1451A>T (n.*1451A>T)
c.*470A>T (n.*470A>T)
c.1204A>T (p.Ser402Cys)
c.1180A>T (p.Ser394Cys)
n.544A>T
n.6217A>T
c.708A>T
c.1183A>T (p.Ser395Cys)
c.1339A>T (p.Ser447Cys)
c.1390A>T (p.Ser464Cys)
c.*848A>T (n.*848A>T)
c.1367A>T (n.1367A>T)
c.1261A>T (p.Ser421Cys)
c.*104A>T (n.*104A>T)
c.1267A>T (p.Ser423Cys)
c.1243A>T (p.Ser415Cys)
c.1309A>T (p.Ser437Cys)
c.826A>T (p.Ser276Cys)
c.850A>T (p.Ser284Cys)
5g.162153211G>ACA3544984GABRG2c.1272G>A
c.1367G>A (p.Ser456Asn)
c.1330G>A
n.525G>A
c.962G>A (p.Ser321Asn)
c.986G>A (p.Ser329Asn)
c.*3868G>A (n.*3868G>A)
c.1148G>A
c.638G>A (p.Ser213Asn)
c.1247G>A (p.Ser416Asn)
c.1271G>A (p.Ser424Asn)
c.1934G>A (n.1934G>A)
c.*1452G>A (n.*1452G>A)
c.*471G>A (n.*471G>A)
c.1205G>A (p.Ser402Asn)
c.1181G>A (p.Ser394Asn)
n.545G>A
n.6218G>A
c.709G>A
c.1184G>A (p.Ser395Asn)
c.1340G>A (p.Ser447Asn)
c.1391G>A (p.Ser464Asn)
c.*849G>A (n.*849G>A)
c.1368G>A (n.1368G>A)
c.1262G>A (p.Ser421Asn)
c.*105G>A (n.*105G>A)
c.1268G>A (p.Ser423Asn)
c.1244G>A (p.Ser415Asn)
c.1310G>A (p.Ser437Asn)
c.827G>A (p.Ser276Asn)
c.851G>A (p.Ser284Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.162153211G>CCA362183606GABRG2c.1272G>C
c.1367G>C (p.Ser456Thr)
c.1330G>C
n.525G>C
c.962G>C (p.Ser321Thr)
c.986G>C (p.Ser329Thr)
c.*3868G>C (n.*3868G>C)
c.1148G>C
c.638G>C (p.Ser213Thr)
c.1247G>C (p.Ser416Thr)
c.1271G>C (p.Ser424Thr)
c.1934G>C (n.1934G>C)
c.*1452G>C (n.*1452G>C)
c.*471G>C (n.*471G>C)
c.1205G>C (p.Ser402Thr)
c.1181G>C (p.Ser394Thr)
n.545G>C
n.6218G>C
c.709G>C
c.1184G>C (p.Ser395Thr)
c.1340G>C (p.Ser447Thr)
c.1391G>C (p.Ser464Thr)
c.*849G>C (n.*849G>C)
c.1368G>C (n.1368G>C)
c.1262G>C (p.Ser421Thr)
c.*105G>C (n.*105G>C)
c.1268G>C (p.Ser423Thr)
c.1244G>C (p.Ser415Thr)
c.1310G>C (p.Ser437Thr)
c.827G>C (p.Ser276Thr)
c.851G>C (p.Ser284Thr)
5g.162153211G=CA1596382087GABRG2c.1272G=
c.1367G= (p.Ser456=)
c.1330G=
n.525G=
c.962G= (p.Ser321=)
c.986G= (p.Ser329=)
c.*3868G= (n.*3868G=)
c.1148G=
c.638G= (p.Ser213=)
c.1247G= (p.Ser416=)
c.1271G= (p.Ser424=)
c.1934G= (n.1934G=)
c.*1452G= (n.*1452G=)
c.*471G= (n.*471G=)
c.1205G= (p.Ser402=)
c.1181G= (p.Ser394=)
n.545G=
n.6218G=
c.709G=
c.1184G= (p.Ser395=)
c.1340G= (p.Ser447=)
c.1391G= (p.Ser464=)
c.*849G= (n.*849G=)
c.1368G= (n.1368G=)
c.1262G= (p.Ser421=)
c.*105G= (n.*105G=)
c.1268G= (p.Ser423=)
c.1244G= (p.Ser415=)
c.1310G= (p.Ser437=)
c.827G= (p.Ser276=)
c.851G= (p.Ser284=)
5g.162153211G>TCA362183607GABRG2c.1272G>T
c.1367G>T (p.Ser456Ile)
c.1330G>T
n.525G>T
c.962G>T (p.Ser321Ile)
c.986G>T (p.Ser329Ile)
c.*3868G>T (n.*3868G>T)
c.1148G>T
c.638G>T (p.Ser213Ile)
c.1247G>T (p.Ser416Ile)
c.1271G>T (p.Ser424Ile)
c.1934G>T (n.1934G>T)
c.*1452G>T (n.*1452G>T)
c.*471G>T (n.*471G>T)
c.1205G>T (p.Ser402Ile)
c.1181G>T (p.Ser394Ile)
n.545G>T
n.6218G>T
c.709G>T
c.1184G>T (p.Ser395Ile)
c.1340G>T (p.Ser447Ile)
c.1391G>T (p.Ser464Ile)
c.*849G>T (n.*849G>T)
c.1368G>T (n.1368G>T)
c.1262G>T (p.Ser421Ile)
c.*105G>T (n.*105G>T)
c.1268G>T (p.Ser423Ile)
c.1244G>T (p.Ser415Ile)
c.1310G>T (p.Ser437Ile)
c.827G>T (p.Ser276Ile)
c.851G>T (p.Ser284Ile)
 ClinVar COSMIC
5g.162153211_162153212delinsGTCA1596382089GABRG2c.1272_1273delinsGT
c.1367_1368delinsGT (p.Ser456=)
c.1330_1331delinsGT
n.525_526delinsGT
c.962_963delinsGT (p.Ser321=)
c.986_987delinsGT (p.Ser329=)
c.*3868_*3869delinsGT (n.*3868_*3869delinsGT)
c.1148_1149delinsGT
c.638_639delinsGT (p.Ser213=)
c.1247_1248delinsGT (p.Ser416=)
c.1271_1272delinsGT (p.Ser424=)
c.1934_1935delinsGT (n.1934_1935delinsGT)
c.*1452_*1453delinsGT (n.*1452_*1453delinsGT)
c.*471_*472delinsGT (n.*471_*472delinsGT)
c.1205_1206delinsGT (p.Ser402=)
c.1181_1182delinsGT (p.Ser394=)
n.545_546delinsGT
n.6218_6219delinsGT
c.709_710delinsGT
c.1184_1185delinsGT (p.Ser395=)
c.1340_1341delinsGT (p.Ser447=)
c.1391_1392delinsGT (p.Ser464=)
c.*849_*850delinsGT (n.*849_*850delinsGT)
c.1368_1369delinsGT (n.1368_1369delinsGT)
c.1262_1263delinsGT (p.Ser421=)
c.*105_*106delinsGT (n.*105_*106delinsGT)
c.1268_1269delinsGT (p.Ser423=)
c.1244_1245delinsGT (p.Ser415=)
c.1310_1311delinsGT (p.Ser437=)
c.827_828delinsGT (p.Ser276=)
c.851_852delinsGT (p.Ser284=)
5g.162153212T>ACA362183608GABRG2c.1273T>A
c.1368T>A (p.Ser456Arg)
c.1331T>A
n.526T>A
c.963T>A (p.Ser321Arg)
c.987T>A (p.Ser329Arg)
c.*3869T>A (n.*3869T>A)
c.1149T>A
c.639T>A (p.Ser213Arg)
c.1248T>A (p.Ser416Arg)
c.1272T>A (p.Ser424Arg)
c.1935T>A (n.1935T>A)
c.*1453T>A (n.*1453T>A)
c.*472T>A (n.*472T>A)
c.1206T>A (p.Ser402Arg)
c.1182T>A (p.Ser394Arg)
n.546T>A
n.6219T>A
c.710T>A
c.1185T>A (p.Ser395Arg)
c.1341T>A (p.Ser447Arg)
c.1392T>A (p.Ser464Arg)
c.*850T>A (n.*850T>A)
c.1369T>A (n.1369T>A)
c.1263T>A (p.Ser421Arg)
c.*106T>A (n.*106T>A)
c.1269T>A (p.Ser423Arg)
c.1245T>A (p.Ser415Arg)
c.1311T>A (p.Ser437Arg)
c.828T>A (p.Ser276Arg)
c.852T>A (p.Ser284Arg)
5g.162153212T>CCA447691800GABRG2c.1273T>C
c.1368T>C (p.Ser456=)
c.1331T>C
n.526T>C
c.963T>C (p.Ser321=)
c.987T>C (p.Ser329=)
c.*3869T>C (n.*3869T>C)
c.1149T>C
c.639T>C (p.Ser213=)
c.1248T>C (p.Ser416=)
c.1272T>C (p.Ser424=)
c.1935T>C (n.1935T>C)
c.*1453T>C (n.*1453T>C)
c.*472T>C (n.*472T>C)
c.1206T>C (p.Ser402=)
c.1182T>C (p.Ser394=)
n.546T>C
n.6219T>C
c.710T>C
c.1185T>C (p.Ser395=)
c.1341T>C (p.Ser447=)
c.1392T>C (p.Ser464=)
c.*850T>C (n.*850T>C)
c.1369T>C (n.1369T>C)
c.1263T>C (p.Ser421=)
c.*106T>C (n.*106T>C)
c.1269T>C (p.Ser423=)
c.1245T>C (p.Ser415=)
c.1311T>C (p.Ser437=)
c.828T>C (p.Ser276=)
c.852T>C (p.Ser284=)
5g.162153212T>GCA362183609GABRG2c.1273T>G
c.1368T>G (p.Ser456Arg)
c.1331T>G
n.526T>G
c.963T>G (p.Ser321Arg)
c.987T>G (p.Ser329Arg)
c.*3869T>G (n.*3869T>G)
c.1149T>G
c.639T>G (p.Ser213Arg)
c.1248T>G (p.Ser416Arg)
c.1272T>G (p.Ser424Arg)
c.1935T>G (n.1935T>G)
c.*1453T>G (n.*1453T>G)
c.*472T>G (n.*472T>G)
c.1206T>G (p.Ser402Arg)
c.1182T>G (p.Ser394Arg)
n.546T>G
n.6219T>G
c.710T>G
c.1185T>G (p.Ser395Arg)
c.1341T>G (p.Ser447Arg)
c.1392T>G (p.Ser464Arg)
c.*850T>G (n.*850T>G)
c.1369T>G (n.1369T>G)
c.1263T>G (p.Ser421Arg)
c.*106T>G (n.*106T>G)
c.1269T>G (p.Ser423Arg)
c.1245T>G (p.Ser415Arg)
c.1311T>G (p.Ser437Arg)
c.828T>G (p.Ser276Arg)
c.852T>G (p.Ser284Arg)
5g.162153217dupCA1596382094GABRG2c.1278dup
c.1373dup (p.Cys459LeufsTer4)
c.1336dup
n.531dup
c.968dup (p.Cys324LeufsTer4)
c.992dup (p.Cys332LeufsTer4)
c.*3874dup (n.*3874dup)
c.1154dup
c.644dup (p.Cys216LeufsTer4)
c.1253dup (p.Cys419LeufsTer4)
c.1277dup (p.Cys427LeufsTer4)
c.1940dup (n.1940dup)
c.*1458dup (n.*1458dup)
c.*477dup (n.*477dup)
c.1211dup (p.Cys405LeufsTer4)
c.1187dup (p.Cys397LeufsTer4)
n.551dup
n.6224dup
c.715dup
c.1190dup (p.Cys398LeufsTer4)
c.1346dup (p.Cys450LeufsTer4)
c.1397dup (p.Cys467LeufsTer4)
c.*855dup (n.*855dup)
c.1374dup (n.1374dup)
c.1268dup (p.Cys424LeufsTer4)
c.*111dup (n.*111dup)
c.1274dup (p.Cys426LeufsTer4)
c.1250dup (p.Cys418LeufsTer4)
c.1316dup (p.Cys440LeufsTer4)
c.833dup (p.Cys279LeufsTer4)
c.857dup (p.Cys287LeufsTer4)
 ClinVar dbSNP
5g.162153217delCA564438696GABRG2c.1278del
c.1373del (p.Phe458SerfsTer?)
c.1336del
n.531del
c.968del (p.Phe323SerfsTer?)
c.992del (p.Phe331SerfsTer?)
c.*3874del (n.*3874del)
c.1154del
c.644del (p.Phe215SerfsTer?)
c.1253del (p.Phe418SerfsTer?)
c.1277del (p.Phe426SerfsTer?)
c.1940del (n.1940del)
c.*1458del (n.*1458del)
c.*477del (n.*477del)
c.1211del (p.Phe404SerfsTer?)
c.1187del (p.Phe396SerfsTer?)
n.551del
n.6224del
c.715del
c.1190del (p.Phe397SerfsTer?)
c.1346del (p.Phe449SerfsTer?)
c.1397del (p.Phe466SerfsTer?)
c.*855del (n.*855del)
c.1374del (n.1374del)
c.1268del (p.Phe423SerfsTer?)
c.*111del (n.*111del)
c.1274del (p.Phe425SerfsTer?)
c.1250del (p.Phe417SerfsTer?)
c.1316del (p.Phe439SerfsTer?)
c.833del (p.Phe278SerfsTer?)
c.857del (p.Phe286SerfsTer?)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.162153213T>ACA362183610GABRG2c.1274T>A
c.1369T>A (p.Phe457Ile)
c.1332T>A
n.527T>A
c.964T>A (p.Phe322Ile)
c.988T>A (p.Phe330Ile)
c.*3870T>A (n.*3870T>A)
c.1150T>A
c.640T>A (p.Phe214Ile)
c.1249T>A (p.Phe417Ile)
c.1273T>A (p.Phe425Ile)
c.1936T>A (n.1936T>A)
c.*1454T>A (n.*1454T>A)
c.*473T>A (n.*473T>A)
c.1207T>A (p.Phe403Ile)
c.1183T>A (p.Phe395Ile)
n.547T>A
n.6220T>A
c.711T>A
c.1186T>A (p.Phe396Ile)
c.1342T>A (p.Phe448Ile)
c.1393T>A (p.Phe465Ile)
c.*851T>A (n.*851T>A)
c.1370T>A (n.1370T>A)
c.1264T>A (p.Phe422Ile)
c.*107T>A (n.*107T>A)
c.1270T>A (p.Phe424Ile)
c.1246T>A (p.Phe416Ile)
c.1312T>A (p.Phe438Ile)
c.829T>A (p.Phe277Ile)
c.853T>A (p.Phe285Ile)
5g.162153213T>CCA362183611GABRG2c.1274T>C
c.1369T>C (p.Phe457Leu)
c.1332T>C
n.527T>C
c.964T>C (p.Phe322Leu)
c.988T>C (p.Phe330Leu)
c.*3870T>C (n.*3870T>C)
c.1150T>C
c.640T>C (p.Phe214Leu)
c.1249T>C (p.Phe417Leu)
c.1273T>C (p.Phe425Leu)
c.1936T>C (n.1936T>C)
c.*1454T>C (n.*1454T>C)
c.*473T>C (n.*473T>C)
c.1207T>C (p.Phe403Leu)
c.1183T>C (p.Phe395Leu)
n.547T>C
n.6220T>C
c.711T>C
c.1186T>C (p.Phe396Leu)
c.1342T>C (p.Phe448Leu)
c.1393T>C (p.Phe465Leu)
c.*851T>C (n.*851T>C)
c.1370T>C (n.1370T>C)
c.1264T>C (p.Phe422Leu)
c.*107T>C (n.*107T>C)
c.1270T>C (p.Phe424Leu)
c.1246T>C (p.Phe416Leu)
c.1312T>C (p.Phe438Leu)
c.829T>C (p.Phe277Leu)
c.853T>C (p.Phe285Leu)
5g.162153213T>GCA3544985GABRG2c.1274T>G
c.1369T>G (p.Phe457Val)
c.1332T>G
n.527T>G
c.964T>G (p.Phe322Val)
c.988T>G (p.Phe330Val)
c.*3870T>G (n.*3870T>G)
c.1150T>G
c.640T>G (p.Phe214Val)
c.1249T>G (p.Phe417Val)
c.1273T>G (p.Phe425Val)
c.1936T>G (n.1936T>G)
c.*1454T>G (n.*1454T>G)
c.*473T>G (n.*473T>G)
c.1207T>G (p.Phe403Val)
c.1183T>G (p.Phe395Val)
n.547T>G
n.6220T>G
c.711T>G
c.1186T>G (p.Phe396Val)
c.1342T>G (p.Phe448Val)
c.1393T>G (p.Phe465Val)
c.*851T>G (n.*851T>G)
c.1370T>G (n.1370T>G)
c.1264T>G (p.Phe422Val)
c.*107T>G (n.*107T>G)
c.1270T>G (p.Phe424Val)
c.1246T>G (p.Phe416Val)
c.1312T>G (p.Phe438Val)
c.829T>G (p.Phe277Val)
c.853T>G (p.Phe285Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.162153213T=CA1596382096GABRG2c.1274T=
c.1369T= (p.Phe457=)
c.1332T=
n.527T=
c.964T= (p.Phe322=)
c.988T= (p.Phe330=)
c.*3870T= (n.*3870T=)
c.1150T=
c.640T= (p.Phe214=)
c.1249T= (p.Phe417=)
c.1273T= (p.Phe425=)
c.1936T= (n.1936T=)
c.*1454T= (n.*1454T=)
c.*473T= (n.*473T=)
c.1207T= (p.Phe403=)
c.1183T= (p.Phe395=)
n.547T=
n.6220T=
c.711T=
c.1186T= (p.Phe396=)
c.1342T= (p.Phe448=)
c.1393T= (p.Phe465=)
c.*851T= (n.*851T=)
c.1370T= (n.1370T=)
c.1264T= (p.Phe422=)
c.*107T= (n.*107T=)
c.1270T= (p.Phe424=)
c.1246T= (p.Phe416=)
c.1312T= (p.Phe438=)
c.829T= (p.Phe277=)
c.853T= (p.Phe285=)
5g.162153214T>ACA362183612GABRG2c.1275T>A
c.1370T>A (p.Phe457Tyr)
c.1333T>A
n.528T>A
c.965T>A (p.Phe322Tyr)
c.989T>A (p.Phe330Tyr)
c.*3871T>A (n.*3871T>A)
c.1151T>A
c.641T>A (p.Phe214Tyr)
c.1250T>A (p.Phe417Tyr)
c.1274T>A (p.Phe425Tyr)
c.1937T>A (n.1937T>A)
c.*1455T>A (n.*1455T>A)
c.*474T>A (n.*474T>A)
c.1208T>A (p.Phe403Tyr)
c.1184T>A (p.Phe395Tyr)
n.548T>A
n.6221T>A
c.712T>A
c.1187T>A (p.Phe396Tyr)
c.1343T>A (p.Phe448Tyr)
c.1394T>A (p.Phe465Tyr)
c.*852T>A (n.*852T>A)
c.1371T>A (n.1371T>A)
c.1265T>A (p.Phe422Tyr)
c.*108T>A (n.*108T>A)
c.1271T>A (p.Phe424Tyr)
c.1247T>A (p.Phe416Tyr)
c.1313T>A (p.Phe438Tyr)
c.830T>A (p.Phe277Tyr)
c.854T>A (p.Phe285Tyr)
5g.162153214T>CCA362183613GABRG2c.1275T>C
c.1370T>C (p.Phe457Ser)
c.1333T>C
n.528T>C
c.965T>C (p.Phe322Ser)
c.989T>C (p.Phe330Ser)
c.*3871T>C (n.*3871T>C)
c.1151T>C
c.641T>C (p.Phe214Ser)
c.1250T>C (p.Phe417Ser)
c.1274T>C (p.Phe425Ser)
c.1937T>C (n.1937T>C)
c.*1455T>C (n.*1455T>C)
c.*474T>C (n.*474T>C)
c.1208T>C (p.Phe403Ser)
c.1184T>C (p.Phe395Ser)
n.548T>C
n.6221T>C
c.712T>C
c.1187T>C (p.Phe396Ser)
c.1343T>C (p.Phe448Ser)
c.1394T>C (p.Phe465Ser)
c.*852T>C (n.*852T>C)
c.1371T>C (n.1371T>C)
c.1265T>C (p.Phe422Ser)
c.*108T>C (n.*108T>C)
c.1271T>C (p.Phe424Ser)
c.1247T>C (p.Phe416Ser)
c.1313T>C (p.Phe438Ser)
c.830T>C (p.Phe277Ser)
c.854T>C (p.Phe285Ser)
5g.162153214T>GCA362183614GABRG2c.1275T>G
c.1370T>G (p.Phe457Cys)
c.1333T>G
n.528T>G
c.965T>G (p.Phe322Cys)
c.989T>G (p.Phe330Cys)
c.*3871T>G (n.*3871T>G)
c.1151T>G
c.641T>G (p.Phe214Cys)
c.1250T>G (p.Phe417Cys)
c.1274T>G (p.Phe425Cys)
c.1937T>G (n.1937T>G)
c.*1455T>G (n.*1455T>G)
c.*474T>G (n.*474T>G)
c.1208T>G (p.Phe403Cys)
c.1184T>G (p.Phe395Cys)
n.548T>G
n.6221T>G
c.712T>G
c.1187T>G (p.Phe396Cys)
c.1343T>G (p.Phe448Cys)
c.1394T>G (p.Phe465Cys)
c.*852T>G (n.*852T>G)
c.1371T>G (n.1371T>G)
c.1265T>G (p.Phe422Cys)
c.*108T>G (n.*108T>G)
c.1271T>G (p.Phe424Cys)
c.1247T>G (p.Phe416Cys)
c.1313T>G (p.Phe438Cys)
c.830T>G (p.Phe277Cys)
c.854T>G (p.Phe285Cys)
5g.162153215T>ACA362183615GABRG2c.1276T>A
c.1371T>A (p.Phe457Leu)
c.1334T>A
n.529T>A
c.966T>A (p.Phe322Leu)
c.990T>A (p.Phe330Leu)
c.*3872T>A (n.*3872T>A)
c.1152T>A
c.642T>A (p.Phe214Leu)
c.1251T>A (p.Phe417Leu)
c.1275T>A (p.Phe425Leu)
c.1938T>A (n.1938T>A)
c.*1456T>A (n.*1456T>A)
c.*475T>A (n.*475T>A)
c.1209T>A (p.Phe403Leu)
c.1185T>A (p.Phe395Leu)
n.549T>A
n.6222T>A
c.713T>A
c.1188T>A (p.Phe396Leu)
c.1344T>A (p.Phe448Leu)
c.1395T>A (p.Phe465Leu)
c.*853T>A (n.*853T>A)
c.1372T>A (n.1372T>A)
c.1266T>A (p.Phe422Leu)
c.*109T>A (n.*109T>A)
c.1272T>A (p.Phe424Leu)
c.1248T>A (p.Phe416Leu)
c.1314T>A (p.Phe438Leu)
c.831T>A (p.Phe277Leu)
c.855T>A (p.Phe285Leu)
5g.162153215T>CCA3544986GABRG2c.1276T>C
c.1371T>C (p.Phe457=)
c.1334T>C
n.529T>C
c.966T>C (p.Phe322=)
c.990T>C (p.Phe330=)
c.*3872T>C (n.*3872T>C)
c.1152T>C
c.642T>C (p.Phe214=)
c.1251T>C (p.Phe417=)
c.1275T>C (p.Phe425=)
c.1938T>C (n.1938T>C)
c.*1456T>C (n.*1456T>C)
c.*475T>C (n.*475T>C)
c.1209T>C (p.Phe403=)
c.1185T>C (p.Phe395=)
n.549T>C
n.6222T>C
c.713T>C
c.1188T>C (p.Phe396=)
c.1344T>C (p.Phe448=)
c.1395T>C (p.Phe465=)
c.*853T>C (n.*853T>C)
c.1372T>C (n.1372T>C)
c.1266T>C (p.Phe422=)
c.*109T>C (n.*109T>C)
c.1272T>C (p.Phe424=)
c.1248T>C (p.Phe416=)
c.1314T>C (p.Phe438=)
c.831T>C (p.Phe277=)
c.855T>C (p.Phe285=)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.162153215T>GCA362183616GABRG2c.1276T>G
c.1371T>G (p.Phe457Leu)
c.1334T>G
n.529T>G
c.966T>G (p.Phe322Leu)
c.990T>G (p.Phe330Leu)
c.*3872T>G (n.*3872T>G)
c.1152T>G
c.642T>G (p.Phe214Leu)
c.1251T>G (p.Phe417Leu)
c.1275T>G (p.Phe425Leu)
c.1938T>G (n.1938T>G)
c.*1456T>G (n.*1456T>G)
c.*475T>G (n.*475T>G)
c.1209T>G (p.Phe403Leu)
c.1185T>G (p.Phe395Leu)
n.549T>G
n.6222T>G
c.713T>G
c.1188T>G (p.Phe396Leu)
c.1344T>G (p.Phe448Leu)
c.1395T>G (p.Phe465Leu)
c.*853T>G (n.*853T>G)
c.1372T>G (n.1372T>G)
c.1266T>G (p.Phe422Leu)
c.*109T>G (n.*109T>G)
c.1272T>G (p.Phe424Leu)
c.1248T>G (p.Phe416Leu)
c.1314T>G (p.Phe438Leu)
c.831T>G (p.Phe277Leu)
c.855T>G (p.Phe285Leu)
5g.162153215T=CA1596382099GABRG2c.1276T=
c.1371T= (p.Phe457=)
c.1334T=
n.529T=
c.966T= (p.Phe322=)
c.990T= (p.Phe330=)
c.*3872T= (n.*3872T=)
c.1152T=
c.642T= (p.Phe214=)
c.1251T= (p.Phe417=)
c.1275T= (p.Phe425=)
c.1938T= (n.1938T=)
c.*1456T= (n.*1456T=)
c.*475T= (n.*475T=)
c.1209T= (p.Phe403=)
c.1185T= (p.Phe395=)
n.549T=
n.6222T=
c.713T=
c.1188T= (p.Phe396=)
c.1344T= (p.Phe448=)
c.1395T= (p.Phe465=)
c.*853T= (n.*853T=)
c.1372T= (n.1372T=)
c.1266T= (p.Phe422=)
c.*109T= (n.*109T=)
c.1272T= (p.Phe424=)
c.1248T= (p.Phe416=)
c.1314T= (p.Phe438=)
c.831T= (p.Phe277=)
c.855T= (p.Phe285=)
5g.162153216T>ACA362183617GABRG2c.1277T>A
c.1372T>A (p.Phe458Ile)
c.1335T>A
n.530T>A
c.967T>A (p.Phe323Ile)
c.991T>A (p.Phe331Ile)
c.*3873T>A (n.*3873T>A)
c.1153T>A
c.643T>A (p.Phe215Ile)
c.1252T>A (p.Phe418Ile)
c.1276T>A (p.Phe426Ile)
c.1939T>A (n.1939T>A)
c.*1457T>A (n.*1457T>A)
c.*476T>A (n.*476T>A)
c.1210T>A (p.Phe404Ile)
c.1186T>A (p.Phe396Ile)
n.550T>A
n.6223T>A
c.714T>A
c.1189T>A (p.Phe397Ile)
c.1345T>A (p.Phe449Ile)
c.1396T>A (p.Phe466Ile)
c.*854T>A (n.*854T>A)
c.1373T>A (n.1373T>A)
c.1267T>A (p.Phe423Ile)
c.*110T>A (n.*110T>A)
c.1273T>A (p.Phe425Ile)
c.1249T>A (p.Phe417Ile)
c.1315T>A (p.Phe439Ile)
c.832T>A (p.Phe278Ile)
c.856T>A (p.Phe286Ile)
5g.162153216T>CCA362183618GABRG2c.1277T>C
c.1372T>C (p.Phe458Leu)
c.1335T>C
n.530T>C
c.967T>C (p.Phe323Leu)
c.991T>C (p.Phe331Leu)
c.*3873T>C (n.*3873T>C)
c.1153T>C
c.643T>C (p.Phe215Leu)
c.1252T>C (p.Phe418Leu)
c.1276T>C (p.Phe426Leu)
c.1939T>C (n.1939T>C)
c.*1457T>C (n.*1457T>C)
c.*476T>C (n.*476T>C)
c.1210T>C (p.Phe404Leu)
c.1186T>C (p.Phe396Leu)
n.550T>C
n.6223T>C
c.714T>C
c.1189T>C (p.Phe397Leu)
c.1345T>C (p.Phe449Leu)
c.1396T>C (p.Phe466Leu)
c.*854T>C (n.*854T>C)
c.1373T>C (n.1373T>C)
c.1267T>C (p.Phe423Leu)
c.*110T>C (n.*110T>C)
c.1273T>C (p.Phe425Leu)
c.1249T>C (p.Phe417Leu)
c.1315T>C (p.Phe439Leu)
c.832T>C (p.Phe278Leu)
c.856T>C (p.Phe286Leu)
5g.162153216T>GCA362183619GABRG2c.1277T>G
c.1372T>G (p.Phe458Val)
c.1335T>G
n.530T>G
c.967T>G (p.Phe323Val)
c.991T>G (p.Phe331Val)
c.*3873T>G (n.*3873T>G)
c.1153T>G
c.643T>G (p.Phe215Val)
c.1252T>G (p.Phe418Val)
c.1276T>G (p.Phe426Val)
c.1939T>G (n.1939T>G)
c.*1457T>G (n.*1457T>G)
c.*476T>G (n.*476T>G)
c.1210T>G (p.Phe404Val)
c.1186T>G (p.Phe396Val)
n.550T>G
n.6223T>G
c.714T>G
c.1189T>G (p.Phe397Val)
c.1345T>G (p.Phe449Val)
c.1396T>G (p.Phe466Val)
c.*854T>G (n.*854T>G)
c.1373T>G (n.1373T>G)
c.1267T>G (p.Phe423Val)
c.*110T>G (n.*110T>G)
c.1273T>G (p.Phe425Val)
c.1249T>G (p.Phe417Val)
c.1315T>G (p.Phe439Val)
c.832T>G (p.Phe278Val)
c.856T>G (p.Phe286Val)
5g.162153217T>ACA362183620GABRG2c.1278T>A
c.1373T>A (p.Phe458Tyr)
c.1336T>A
n.531T>A
c.968T>A (p.Phe323Tyr)
c.992T>A (p.Phe331Tyr)
c.*3874T>A (n.*3874T>A)
c.1154T>A
c.644T>A (p.Phe215Tyr)
c.1253T>A (p.Phe418Tyr)
c.1277T>A (p.Phe426Tyr)
c.1940T>A (n.1940T>A)
c.*1458T>A (n.*1458T>A)
c.*477T>A (n.*477T>A)
c.1211T>A (p.Phe404Tyr)
c.1187T>A (p.Phe396Tyr)
n.551T>A
n.6224T>A
c.715T>A
c.1190T>A (p.Phe397Tyr)
c.1346T>A (p.Phe449Tyr)
c.1397T>A (p.Phe466Tyr)
c.*855T>A (n.*855T>A)
c.1374T>A (n.1374T>A)
c.1268T>A (p.Phe423Tyr)
c.*111T>A (n.*111T>A)
c.1274T>A (p.Phe425Tyr)
c.1250T>A (p.Phe417Tyr)
c.1316T>A (p.Phe439Tyr)
c.833T>A (p.Phe278Tyr)
c.857T>A (p.Phe286Tyr)
5g.162153217T>CCA362183621GABRG2c.1278T>C
c.1373T>C (p.Phe458Ser)
c.1336T>C
n.531T>C
c.968T>C (p.Phe323Ser)
c.992T>C (p.Phe331Ser)
c.*3874T>C (n.*3874T>C)
c.1154T>C
c.644T>C (p.Phe215Ser)
c.1253T>C (p.Phe418Ser)
c.1277T>C (p.Phe426Ser)
c.1940T>C (n.1940T>C)
c.*1458T>C (n.*1458T>C)
c.*477T>C (n.*477T>C)
c.1211T>C (p.Phe404Ser)
c.1187T>C (p.Phe396Ser)
n.551T>C
n.6224T>C
c.715T>C
c.1190T>C (p.Phe397Ser)
c.1346T>C (p.Phe449Ser)
c.1397T>C (p.Phe466Ser)
c.*855T>C (n.*855T>C)
c.1374T>C (n.1374T>C)
c.1268T>C (p.Phe423Ser)
c.*111T>C (n.*111T>C)
c.1274T>C (p.Phe425Ser)
c.1250T>C (p.Phe417Ser)
c.1316T>C (p.Phe439Ser)
c.833T>C (p.Phe278Ser)
c.857T>C (p.Phe286Ser)
 ClinVar dbSNP
5g.162153217T>GCA362183622GABRG2c.1278T>G
c.1373T>G (p.Phe458Cys)
c.1336T>G
n.531T>G
c.968T>G (p.Phe323Cys)
c.992T>G (p.Phe331Cys)
c.*3874T>G (n.*3874T>G)
c.1154T>G
c.644T>G (p.Phe215Cys)
c.1253T>G (p.Phe418Cys)
c.1277T>G (p.Phe426Cys)
c.1940T>G (n.1940T>G)
c.*1458T>G (n.*1458T>G)
c.*477T>G (n.*477T>G)
c.1211T>G (p.Phe404Cys)
c.1187T>G (p.Phe396Cys)
n.551T>G
n.6224T>G
c.715T>G
c.1190T>G (p.Phe397Cys)
c.1346T>G (p.Phe449Cys)
c.1397T>G (p.Phe466Cys)
c.*855T>G (n.*855T>G)
c.1374T>G (n.1374T>G)
c.1268T>G (p.Phe423Cys)
c.*111T>G (n.*111T>G)
c.1274T>G (p.Phe425Cys)
c.1250T>G (p.Phe417Cys)
c.1316T>G (p.Phe439Cys)
c.833T>G (p.Phe278Cys)
c.857T>G (p.Phe286Cys)
5g.162153218C>ACA362183623GABRG2c.1279C>A
c.1374C>A (p.Phe458Leu)
c.1337C>A
n.532C>A
c.969C>A (p.Phe323Leu)
c.993C>A (p.Phe331Leu)
c.*3875C>A (n.*3875C>A)
c.1155C>A
c.645C>A (p.Phe215Leu)
c.1254C>A (p.Phe418Leu)
c.1278C>A (p.Phe426Leu)
c.1941C>A (n.1941C>A)
c.*1459C>A (n.*1459C>A)
c.*478C>A (n.*478C>A)
c.1212C>A (p.Phe404Leu)
c.1188C>A (p.Phe396Leu)
n.552C>A
n.6225C>A
c.716C>A
c.1191C>A (p.Phe397Leu)
c.1347C>A (p.Phe449Leu)
c.1398C>A (p.Phe466Leu)
c.*856C>A (n.*856C>A)
c.1375C>A (n.1375C>A)
c.1269C>A (p.Phe423Leu)
c.*112C>A (n.*112C>A)
c.1275C>A (p.Phe425Leu)
c.1251C>A (p.Phe417Leu)
c.1317C>A (p.Phe439Leu)
c.834C>A (p.Phe278Leu)
c.858C>A (p.Phe286Leu)
5g.162153218C>GCA362183624GABRG2c.1279C>G
c.1374C>G (p.Phe458Leu)
c.1337C>G
n.532C>G
c.969C>G (p.Phe323Leu)
c.993C>G (p.Phe331Leu)
c.*3875C>G (n.*3875C>G)
c.1155C>G
c.645C>G (p.Phe215Leu)
c.1254C>G (p.Phe418Leu)
c.1278C>G (p.Phe426Leu)
c.1941C>G (n.1941C>G)
c.*1459C>G (n.*1459C>G)
c.*478C>G (n.*478C>G)
c.1212C>G (p.Phe404Leu)
c.1188C>G (p.Phe396Leu)
n.552C>G
n.6225C>G
c.716C>G
c.1191C>G (p.Phe397Leu)
c.1347C>G (p.Phe449Leu)
c.1398C>G (p.Phe466Leu)
c.*856C>G (n.*856C>G)
c.1375C>G (n.1375C>G)
c.1269C>G (p.Phe423Leu)
c.*112C>G (n.*112C>G)
c.1275C>G (p.Phe425Leu)
c.1251C>G (p.Phe417Leu)
c.1317C>G (p.Phe439Leu)
c.834C>G (p.Phe278Leu)
c.858C>G (p.Phe286Leu)
5g.162153218C>TCA447691809GABRG2c.1279C>T
c.1374C>T (p.Phe458=)
c.1337C>T
n.532C>T
c.969C>T (p.Phe323=)
c.993C>T (p.Phe331=)
c.*3875C>T (n.*3875C>T)
c.1155C>T
c.645C>T (p.Phe215=)
c.1254C>T (p.Phe418=)
c.1278C>T (p.Phe426=)
c.1941C>T (n.1941C>T)
c.*1459C>T (n.*1459C>T)
c.*478C>T (n.*478C>T)
c.1212C>T (p.Phe404=)
c.1188C>T (p.Phe396=)
n.552C>T
n.6225C>T
c.716C>T
c.1191C>T (p.Phe397=)
c.1347C>T (p.Phe449=)
c.1398C>T (p.Phe466=)
c.*856C>T (n.*856C>T)
c.1375C>T (n.1375C>T)
c.1269C>T (p.Phe423=)
c.*112C>T (n.*112C>T)
c.1275C>T (p.Phe425=)
c.1251C>T (p.Phe417=)
c.1317C>T (p.Phe439=)
c.834C>T (p.Phe278=)
c.858C>T (p.Phe286=)
5g.162153219T>ACA362183625GABRG2c.1280T>A
c.1375T>A (p.Cys459Ser)
c.1338T>A
n.533T>A
c.970T>A (p.Cys324Ser)
c.994T>A (p.Cys332Ser)
c.*3876T>A (n.*3876T>A)
c.1156T>A
c.646T>A (p.Cys216Ser)
c.1255T>A (p.Cys419Ser)
c.1279T>A (p.Cys427Ser)
c.1942T>A (n.1942T>A)
c.*1460T>A (n.*1460T>A)
c.*479T>A (n.*479T>A)
c.1213T>A (p.Cys405Ser)
c.1189T>A (p.Cys397Ser)
n.553T>A
n.6226T>A
c.717T>A
c.1192T>A (p.Cys398Ser)
c.1348T>A (p.Cys450Ser)
c.1399T>A (p.Cys467Ser)
c.*857T>A (n.*857T>A)
c.1376T>A (n.1376T>A)
c.1270T>A (p.Cys424Ser)
c.*113T>A (n.*113T>A)
c.1276T>A (p.Cys426Ser)
c.1252T>A (p.Cys418Ser)
c.1318T>A (p.Cys440Ser)
c.835T>A (p.Cys279Ser)
c.859T>A (p.Cys287Ser)
5g.162153219T>CCA362183627GABRG2c.1280T>C
c.1375T>C (p.Cys459Arg)
c.1338T>C
n.533T>C
c.970T>C (p.Cys324Arg)
c.994T>C (p.Cys332Arg)
c.*3876T>C (n.*3876T>C)
c.1156T>C
c.646T>C (p.Cys216Arg)
c.1255T>C (p.Cys419Arg)
c.1279T>C (p.Cys427Arg)
c.1942T>C (n.1942T>C)
c.*1460T>C (n.*1460T>C)
c.*479T>C (n.*479T>C)
c.1213T>C (p.Cys405Arg)
c.1189T>C (p.Cys397Arg)
n.553T>C
n.6226T>C
c.717T>C
c.1192T>C (p.Cys398Arg)
c.1348T>C (p.Cys450Arg)
c.1399T>C (p.Cys467Arg)
c.*857T>C (n.*857T>C)
c.1376T>C (n.1376T>C)
c.1270T>C (p.Cys424Arg)
c.*113T>C (n.*113T>C)
c.1276T>C (p.Cys426Arg)
c.1252T>C (p.Cys418Arg)
c.1318T>C (p.Cys440Arg)
c.835T>C (p.Cys279Arg)
c.859T>C (p.Cys287Arg)
 ClinVar dbSNP
5g.162153219T>GCA362183626GABRG2c.1280T>G
c.1375T>G (p.Cys459Gly)
c.1338T>G
n.533T>G
c.970T>G (p.Cys324Gly)
c.994T>G (p.Cys332Gly)
c.*3876T>G (n.*3876T>G)
c.1156T>G
c.646T>G (p.Cys216Gly)
c.1255T>G (p.Cys419Gly)
c.1279T>G (p.Cys427Gly)
c.1942T>G (n.1942T>G)
c.*1460T>G (n.*1460T>G)
c.*479T>G (n.*479T>G)
c.1213T>G (p.Cys405Gly)
c.1189T>G (p.Cys397Gly)
n.553T>G
n.6226T>G
c.717T>G
c.1192T>G (p.Cys398Gly)
c.1348T>G (p.Cys450Gly)
c.1399T>G (p.Cys467Gly)
c.*857T>G (n.*857T>G)
c.1376T>G (n.1376T>G)
c.1270T>G (p.Cys424Gly)
c.*113T>G (n.*113T>G)
c.1276T>G (p.Cys426Gly)
c.1252T>G (p.Cys418Gly)
c.1318T>G (p.Cys440Gly)
c.835T>G (p.Cys279Gly)
c.859T>G (p.Cys287Gly)
 dbSNP gnomAD v2 gnomAD v4
5g.162153219T=CA1596382104GABRG2c.1280T=
c.1375T= (p.Cys459=)
c.1338T=
n.533T=
c.970T= (p.Cys324=)
c.994T= (p.Cys332=)
c.*3876T= (n.*3876T=)
c.1156T=
c.646T= (p.Cys216=)
c.1255T= (p.Cys419=)
c.1279T= (p.Cys427=)
c.1942T= (n.1942T=)
c.*1460T= (n.*1460T=)
c.*479T= (n.*479T=)
c.1213T= (p.Cys405=)
c.1189T= (p.Cys397=)
n.553T=
n.6226T=
c.717T=
c.1192T= (p.Cys398=)
c.1348T= (p.Cys450=)
c.1399T= (p.Cys467=)
c.*857T= (n.*857T=)
c.1376T= (n.1376T=)
c.1270T= (p.Cys424=)
c.*113T= (n.*113T=)
c.1276T= (p.Cys426=)
c.1252T= (p.Cys418=)
c.1318T= (p.Cys440=)
c.835T= (p.Cys279=)
c.859T= (p.Cys287=)
5g.162153220G>ACA362183628GABRG2c.1281G>A
c.1376G>A (p.Cys459Tyr)
c.1339G>A
n.534G>A
c.971G>A (p.Cys324Tyr)
c.995G>A (p.Cys332Tyr)
c.*3877G>A (n.*3877G>A)
c.1157G>A
c.647G>A (p.Cys216Tyr)
c.1256G>A (p.Cys419Tyr)
c.1280G>A (p.Cys427Tyr)
c.1943G>A (n.1943G>A)
c.*1461G>A (n.*1461G>A)
c.*480G>A (n.*480G>A)
c.1214G>A (p.Cys405Tyr)
c.1190G>A (p.Cys397Tyr)
n.554G>A
n.6227G>A
c.718G>A
c.1193G>A (p.Cys398Tyr)
c.1349G>A (p.Cys450Tyr)
c.1400G>A (p.Cys467Tyr)
c.*858G>A (n.*858G>A)
c.1377G>A (n.1377G>A)
c.1271G>A (p.Cys424Tyr)
c.*114G>A (n.*114G>A)
c.1277G>A (p.Cys426Tyr)
c.1253G>A (p.Cys418Tyr)
c.1319G>A (p.Cys440Tyr)
c.836G>A (p.Cys279Tyr)
c.860G>A (p.Cys287Tyr)
5g.162153220G>CCA362183629GABRG2c.1281G>C
c.1376G>C (p.Cys459Ser)
c.1339G>C
n.534G>C
c.971G>C (p.Cys324Ser)
c.995G>C (p.Cys332Ser)
c.*3877G>C (n.*3877G>C)
c.1157G>C
c.647G>C (p.Cys216Ser)
c.1256G>C (p.Cys419Ser)
c.1280G>C (p.Cys427Ser)
c.1943G>C (n.1943G>C)
c.*1461G>C (n.*1461G>C)
c.*480G>C (n.*480G>C)
c.1214G>C (p.Cys405Ser)
c.1190G>C (p.Cys397Ser)
n.554G>C
n.6227G>C
c.718G>C
c.1193G>C (p.Cys398Ser)
c.1349G>C (p.Cys450Ser)
c.1400G>C (p.Cys467Ser)
c.*858G>C (n.*858G>C)
c.1377G>C (n.1377G>C)
c.1271G>C (p.Cys424Ser)
c.*114G>C (n.*114G>C)
c.1277G>C (p.Cys426Ser)
c.1253G>C (p.Cys418Ser)
c.1319G>C (p.Cys440Ser)
c.836G>C (p.Cys279Ser)
c.860G>C (p.Cys287Ser)
5g.162153220G>TCA362183630GABRG2c.1281G>T
c.1376G>T (p.Cys459Phe)
c.1339G>T
n.534G>T
c.971G>T (p.Cys324Phe)
c.995G>T (p.Cys332Phe)
c.*3877G>T (n.*3877G>T)
c.1157G>T
c.647G>T (p.Cys216Phe)
c.1256G>T (p.Cys419Phe)
c.1280G>T (p.Cys427Phe)
c.1943G>T (n.1943G>T)
c.*1461G>T (n.*1461G>T)
c.*480G>T (n.*480G>T)
c.1214G>T (p.Cys405Phe)
c.1190G>T (p.Cys397Phe)
n.554G>T
n.6227G>T
c.718G>T
c.1193G>T (p.Cys398Phe)
c.1349G>T (p.Cys450Phe)
c.1400G>T (p.Cys467Phe)
c.*858G>T (n.*858G>T)
c.1377G>T (n.1377G>T)
c.1271G>T (p.Cys424Phe)
c.*114G>T (n.*114G>T)
c.1277G>T (p.Cys426Phe)
c.1253G>T (p.Cys418Phe)
c.1319G>T (p.Cys440Phe)
c.836G>T (p.Cys279Phe)
c.860G>T (p.Cys287Phe)
5g.162153221C>ACA362183631GABRG2c.1282C>A
c.1377C>A (p.Cys459Ter)
c.1340C>A
n.535C>A
c.972C>A (p.Cys324Ter)
c.996C>A (p.Cys332Ter)
c.*3878C>A (n.*3878C>A)
c.1158C>A
c.648C>A (p.Cys216Ter)
c.1257C>A (p.Cys419Ter)
c.1281C>A (p.Cys427Ter)
c.1944C>A (n.1944C>A)
c.*1462C>A (n.*1462C>A)
c.*481C>A (n.*481C>A)
c.1215C>A (p.Cys405Ter)
c.1191C>A (p.Cys397Ter)
n.555C>A
n.6228C>A
c.719C>A
c.1194C>A (p.Cys398Ter)
c.1350C>A (p.Cys450Ter)
c.1401C>A (p.Cys467Ter)
c.*859C>A (n.*859C>A)
c.1378C>A (n.1378C>A)
c.1272C>A (p.Cys424Ter)
c.*115C>A (n.*115C>A)
c.1278C>A (p.Cys426Ter)
c.1254C>A (p.Cys418Ter)
c.1320C>A (p.Cys440Ter)
c.837C>A (p.Cys279Ter)
c.861C>A (p.Cys287Ter)
5g.162153221C>GCA362183632GABRG2c.1282C>G
c.1377C>G (p.Cys459Trp)
c.1340C>G
n.535C>G
c.972C>G (p.Cys324Trp)
c.996C>G (p.Cys332Trp)
c.*3878C>G (n.*3878C>G)
c.1158C>G
c.648C>G (p.Cys216Trp)
c.1257C>G (p.Cys419Trp)
c.1281C>G (p.Cys427Trp)
c.1944C>G (n.1944C>G)
c.*1462C>G (n.*1462C>G)
c.*481C>G (n.*481C>G)
c.1215C>G (p.Cys405Trp)
c.1191C>G (p.Cys397Trp)
n.555C>G
n.6228C>G
c.719C>G
c.1194C>G (p.Cys398Trp)
c.1350C>G (p.Cys450Trp)
c.1401C>G (p.Cys467Trp)
c.*859C>G (n.*859C>G)
c.1378C>G (n.1378C>G)
c.1272C>G (p.Cys424Trp)
c.*115C>G (n.*115C>G)
c.1278C>G (p.Cys426Trp)
c.1254C>G (p.Cys418Trp)
c.1320C>G (p.Cys440Trp)
c.837C>G (p.Cys279Trp)
c.861C>G (p.Cys287Trp)
5g.162153221C>TCA447691814GABRG2c.1282C>T
c.1377C>T (p.Cys459=)
c.1340C>T
n.535C>T
c.972C>T (p.Cys324=)
c.996C>T (p.Cys332=)
c.*3878C>T (n.*3878C>T)
c.1158C>T
c.648C>T (p.Cys216=)
c.1257C>T (p.Cys419=)
c.1281C>T (p.Cys427=)
c.1944C>T (n.1944C>T)
c.*1462C>T (n.*1462C>T)
c.*481C>T (n.*481C>T)
c.1215C>T (p.Cys405=)
c.1191C>T (p.Cys397=)
n.555C>T
n.6228C>T
c.719C>T
c.1194C>T (p.Cys398=)
c.1350C>T (p.Cys450=)
c.1401C>T (p.Cys467=)
c.*859C>T (n.*859C>T)
c.1378C>T (n.1378C>T)
c.1272C>T (p.Cys424=)
c.*115C>T (n.*115C>T)
c.1278C>T (p.Cys426=)
c.1254C>T (p.Cys418=)
c.1320C>T (p.Cys440=)
c.837C>T (p.Cys279=)
c.861C>T (p.Cys287=)
 COSMIC
5g.162153222T>ACA362183633GABRG2c.1283T>A
c.1378T>A (p.Cys460Ser)
c.1341T>A
n.536T>A
c.973T>A (p.Cys325Ser)
c.997T>A (p.Cys333Ser)
c.*3879T>A (n.*3879T>A)
c.1159T>A
c.649T>A (p.Cys217Ser)
c.1258T>A (p.Cys420Ser)
c.1282T>A (p.Cys428Ser)
c.1945T>A (n.1945T>A)
c.*1463T>A (n.*1463T>A)
c.*482T>A (n.*482T>A)
c.1216T>A (p.Cys406Ser)
c.1192T>A (p.Cys398Ser)
n.556T>A
n.6229T>A
c.720T>A
c.1195T>A (p.Cys399Ser)
c.1351T>A (p.Cys451Ser)
c.1402T>A (p.Cys468Ser)
c.*860T>A (n.*860T>A)
c.1379T>A (n.1379T>A)
c.1273T>A (p.Cys425Ser)
c.*116T>A (n.*116T>A)
c.1279T>A (p.Cys427Ser)
c.1255T>A (p.Cys419Ser)
c.1321T>A (p.Cys441Ser)
c.838T>A (p.Cys280Ser)
c.862T>A (p.Cys288Ser)
5g.162153222T>CCA362183634GABRG2c.1283T>C
c.1378T>C (p.Cys460Arg)
c.1341T>C
n.536T>C
c.973T>C (p.Cys325Arg)
c.997T>C (p.Cys333Arg)
c.*3879T>C (n.*3879T>C)
c.1159T>C
c.649T>C (p.Cys217Arg)
c.1258T>C (p.Cys420Arg)
c.1282T>C (p.Cys428Arg)
c.1945T>C (n.1945T>C)
c.*1463T>C (n.*1463T>C)
c.*482T>C (n.*482T>C)
c.1216T>C (p.Cys406Arg)
c.1192T>C (p.Cys398Arg)
n.556T>C
n.6229T>C
c.720T>C
c.1195T>C (p.Cys399Arg)
c.1351T>C (p.Cys451Arg)
c.1402T>C (p.Cys468Arg)
c.*860T>C (n.*860T>C)
c.1379T>C (n.1379T>C)
c.1273T>C (p.Cys425Arg)
c.*116T>C (n.*116T>C)
c.1279T>C (p.Cys427Arg)
c.1255T>C (p.Cys419Arg)
c.1321T>C (p.Cys441Arg)
c.838T>C (p.Cys280Arg)
c.862T>C (p.Cys288Arg)
 ClinVar
5g.162153222T>GCA362183635GABRG2c.1283T>G
c.1378T>G (p.Cys460Gly)
c.1341T>G
n.536T>G
c.973T>G (p.Cys325Gly)
c.997T>G (p.Cys333Gly)
c.*3879T>G (n.*3879T>G)
c.1159T>G
c.649T>G (p.Cys217Gly)
c.1258T>G (p.Cys420Gly)
c.1282T>G (p.Cys428Gly)
c.1945T>G (n.1945T>G)
c.*1463T>G (n.*1463T>G)
c.*482T>G (n.*482T>G)
c.1216T>G (p.Cys406Gly)
c.1192T>G (p.Cys398Gly)
n.556T>G
n.6229T>G
c.720T>G
c.1195T>G (p.Cys399Gly)
c.1351T>G (p.Cys451Gly)
c.1402T>G (p.Cys468Gly)
c.*860T>G (n.*860T>G)
c.1379T>G (n.1379T>G)
c.1273T>G (p.Cys425Gly)
c.*116T>G (n.*116T>G)
c.1279T>G (p.Cys427Gly)
c.1255T>G (p.Cys419Gly)
c.1321T>G (p.Cys441Gly)
c.838T>G (p.Cys280Gly)
c.862T>G (p.Cys288Gly)

Number of alleles fetched