Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.162153280C>ACA362183874GABRG2c.1341C>A
c.1436C>A (p.Ala479Asp)
c.1399C>A
n.594C>A
c.1031C>A (p.Ala344Asp)
c.1055C>A (p.Ala352Asp)
c.*3937C>A (n.*3937C>A)
c.1217C>A
c.707C>A (p.Ala236Asp)
c.1316C>A (p.Ala439Asp)
c.1340C>A (p.Ala447Asp)
c.2003C>A (n.2003C>A)
c.*1521C>A (n.*1521C>A)
c.*540C>A (n.*540C>A)
c.1274C>A (p.Ala425Asp)
c.1250C>A (p.Ala417Asp)
n.614C>A
n.6287C>A
c.778C>A
c.1253C>A (p.Ala418Asp)
c.1409C>A (p.Ala470Asp)
c.1460C>A (p.Ala487Asp)
c.*918C>A (n.*918C>A)
c.1437C>A (n.1437C>A)
c.1331C>A (p.Ala444Asp)
c.*174C>A (n.*174C>A)
c.1337C>A (p.Ala446Asp)
c.1313C>A (p.Ala438Asp)
c.1379C>A (p.Ala460Asp)
c.896C>A (p.Ala299Asp)
c.920C>A (p.Ala307Asp)
5g.162153280C>GCA362183876GABRG2c.1341C>G
c.1436C>G (p.Ala479Gly)
c.1399C>G
n.594C>G
c.1031C>G (p.Ala344Gly)
c.1055C>G (p.Ala352Gly)
c.*3937C>G (n.*3937C>G)
c.1217C>G
c.707C>G (p.Ala236Gly)
c.1316C>G (p.Ala439Gly)
c.1340C>G (p.Ala447Gly)
c.2003C>G (n.2003C>G)
c.*1521C>G (n.*1521C>G)
c.*540C>G (n.*540C>G)
c.1274C>G (p.Ala425Gly)
c.1250C>G (p.Ala417Gly)
n.614C>G
n.6287C>G
c.778C>G
c.1253C>G (p.Ala418Gly)
c.1409C>G (p.Ala470Gly)
c.1460C>G (p.Ala487Gly)
c.*918C>G (n.*918C>G)
c.1437C>G (n.1437C>G)
c.1331C>G (p.Ala444Gly)
c.*174C>G (n.*174C>G)
c.1337C>G (p.Ala446Gly)
c.1313C>G (p.Ala438Gly)
c.1379C>G (p.Ala460Gly)
c.896C>G (p.Ala299Gly)
c.920C>G (p.Ala307Gly)
5g.162153280C>TCA362183877GABRG2c.1341C>T
c.1436C>T (p.Ala479Val)
c.1399C>T
n.594C>T
c.1031C>T (p.Ala344Val)
c.1055C>T (p.Ala352Val)
c.*3937C>T (n.*3937C>T)
c.1217C>T
c.707C>T (p.Ala236Val)
c.1316C>T (p.Ala439Val)
c.1340C>T (p.Ala447Val)
c.2003C>T (n.2003C>T)
c.*1521C>T (n.*1521C>T)
c.*540C>T (n.*540C>T)
c.1274C>T (p.Ala425Val)
c.1250C>T (p.Ala417Val)
n.614C>T
n.6287C>T
c.778C>T
c.1253C>T (p.Ala418Val)
c.1409C>T (p.Ala470Val)
c.1460C>T (p.Ala487Val)
c.*918C>T (n.*918C>T)
c.1437C>T (n.1437C>T)
c.1331C>T (p.Ala444Val)
c.*174C>T (n.*174C>T)
c.1337C>T (p.Ala446Val)
c.1313C>T (p.Ala438Val)
c.1379C>T (p.Ala460Val)
c.896C>T (p.Ala299Val)
c.920C>T (p.Ala307Val)
5g.162153281C>ACA447691945GABRG2c.1342C>A
c.1437C>A (p.Ala479=)
c.1400C>A
n.595C>A
c.1032C>A (p.Ala344=)
c.1056C>A (p.Ala352=)
c.*3938C>A (n.*3938C>A)
c.1218C>A
c.708C>A (p.Ala236=)
c.1317C>A (p.Ala439=)
c.1341C>A (p.Ala447=)
c.2004C>A (n.2004C>A)
c.*1522C>A (n.*1522C>A)
c.*541C>A (n.*541C>A)
c.1275C>A (p.Ala425=)
c.1251C>A (p.Ala417=)
n.615C>A
n.6288C>A
c.779C>A
c.1254C>A (p.Ala418=)
c.1410C>A (p.Ala470=)
c.1461C>A (p.Ala487=)
c.*919C>A (n.*919C>A)
c.1438C>A (n.1438C>A)
c.1332C>A (p.Ala444=)
c.*175C>A (n.*175C>A)
c.1338C>A (p.Ala446=)
c.1314C>A (p.Ala438=)
c.1380C>A (p.Ala460=)
c.897C>A (p.Ala299=)
c.921C>A (p.Ala307=)
5g.162153281C>GCA447691947GABRG2c.1342C>G
c.1437C>G (p.Ala479=)
c.1400C>G
n.595C>G
c.1032C>G (p.Ala344=)
c.1056C>G (p.Ala352=)
c.*3938C>G (n.*3938C>G)
c.1218C>G
c.708C>G (p.Ala236=)
c.1317C>G (p.Ala439=)
c.1341C>G (p.Ala447=)
c.2004C>G (n.2004C>G)
c.*1522C>G (n.*1522C>G)
c.*541C>G (n.*541C>G)
c.1275C>G (p.Ala425=)
c.1251C>G (p.Ala417=)
n.615C>G
n.6288C>G
c.779C>G
c.1254C>G (p.Ala418=)
c.1410C>G (p.Ala470=)
c.1461C>G (p.Ala487=)
c.*919C>G (n.*919C>G)
c.1438C>G (n.1438C>G)
c.1332C>G (p.Ala444=)
c.*175C>G (n.*175C>G)
c.1338C>G (p.Ala446=)
c.1314C>G (p.Ala438=)
c.1380C>G (p.Ala460=)
c.897C>G (p.Ala299=)
c.921C>G (p.Ala307=)
5g.162153281C>TCA447691948GABRG2c.1342C>T
c.1437C>T (p.Ala479=)
c.1400C>T
n.595C>T
c.1032C>T (p.Ala344=)
c.1056C>T (p.Ala352=)
c.*3938C>T (n.*3938C>T)
c.1218C>T
c.708C>T (p.Ala236=)
c.1317C>T (p.Ala439=)
c.1341C>T (p.Ala447=)
c.2004C>T (n.2004C>T)
c.*1522C>T (n.*1522C>T)
c.*541C>T (n.*541C>T)
c.1275C>T (p.Ala425=)
c.1251C>T (p.Ala417=)
n.615C>T
n.6288C>T
c.779C>T
c.1254C>T (p.Ala418=)
c.1410C>T (p.Ala470=)
c.1461C>T (p.Ala487=)
c.*919C>T (n.*919C>T)
c.1438C>T (n.1438C>T)
c.1332C>T (p.Ala444=)
c.*175C>T (n.*175C>T)
c.1338C>T (p.Ala446=)
c.1314C>T (p.Ala438=)
c.1380C>T (p.Ala460=)
c.897C>T (p.Ala299=)
c.921C>T (p.Ala307=)
 gnomAD v4
5g.162153282A>CCA362183879GABRG2c.1343A>C
c.1438A>C (p.Lys480Gln)
c.1401A>C
n.596A>C
c.1033A>C (p.Lys345Gln)
c.1057A>C (p.Lys353Gln)
c.*3939A>C (n.*3939A>C)
c.1219A>C
c.709A>C (p.Lys237Gln)
c.1318A>C (p.Lys440Gln)
c.1342A>C (p.Lys448Gln)
c.2005A>C (n.2005A>C)
c.*1523A>C (n.*1523A>C)
c.*542A>C (n.*542A>C)
c.1276A>C (p.Lys426Gln)
c.1252A>C (p.Lys418Gln)
n.616A>C
n.6289A>C
c.780A>C
c.1255A>C (p.Lys419Gln)
c.1411A>C (p.Lys471Gln)
c.1462A>C (p.Lys488Gln)
c.*920A>C (n.*920A>C)
c.1439A>C (n.1439A>C)
c.1333A>C (p.Lys445Gln)
c.*176A>C (n.*176A>C)
c.1339A>C (p.Lys447Gln)
c.1315A>C (p.Lys439Gln)
c.1381A>C (p.Lys461Gln)
c.898A>C (p.Lys300Gln)
c.922A>C (p.Lys308Gln)
5g.162153282A>GCA362183881GABRG2c.1343A>G
c.1438A>G (p.Lys480Glu)
c.1401A>G
n.596A>G
c.1033A>G (p.Lys345Glu)
c.1057A>G (p.Lys353Glu)
c.*3939A>G (n.*3939A>G)
c.1219A>G
c.709A>G (p.Lys237Glu)
c.1318A>G (p.Lys440Glu)
c.1342A>G (p.Lys448Glu)
c.2005A>G (n.2005A>G)
c.*1523A>G (n.*1523A>G)
c.*542A>G (n.*542A>G)
c.1276A>G (p.Lys426Glu)
c.1252A>G (p.Lys418Glu)
n.616A>G
n.6289A>G
c.780A>G
c.1255A>G (p.Lys419Glu)
c.1411A>G (p.Lys471Glu)
c.1462A>G (p.Lys488Glu)
c.*920A>G (n.*920A>G)
c.1439A>G (n.1439A>G)
c.1333A>G (p.Lys445Glu)
c.*176A>G (n.*176A>G)
c.1339A>G (p.Lys447Glu)
c.1315A>G (p.Lys439Glu)
c.1381A>G (p.Lys461Glu)
c.898A>G (p.Lys300Glu)
c.922A>G (p.Lys308Glu)
5g.162153282A>TCA362183883GABRG2c.1343A>T
c.1438A>T (p.Lys480Ter)
c.1401A>T
n.596A>T
c.1033A>T (p.Lys345Ter)
c.1057A>T (p.Lys353Ter)
c.*3939A>T (n.*3939A>T)
c.1219A>T
c.709A>T (p.Lys237Ter)
c.1318A>T (p.Lys440Ter)
c.1342A>T (p.Lys448Ter)
c.2005A>T (n.2005A>T)
c.*1523A>T (n.*1523A>T)
c.*542A>T (n.*542A>T)
c.1276A>T (p.Lys426Ter)
c.1252A>T (p.Lys418Ter)
n.616A>T
n.6289A>T
c.780A>T
c.1255A>T (p.Lys419Ter)
c.1411A>T (p.Lys471Ter)
c.1462A>T (p.Lys488Ter)
c.*920A>T (n.*920A>T)
c.1439A>T (n.1439A>T)
c.1333A>T (p.Lys445Ter)
c.*176A>T (n.*176A>T)
c.1339A>T (p.Lys447Ter)
c.1315A>T (p.Lys439Ter)
c.1381A>T (p.Lys461Ter)
c.898A>T (p.Lys300Ter)
c.922A>T (p.Lys308Ter)
5g.162153283A=CA1596382182GABRG2c.1344A=
c.1439A= (p.Lys480=)
c.1402A=
n.597A=
c.1034A= (p.Lys345=)
c.1058A= (p.Lys353=)
c.*3940A= (n.*3940A=)
c.1220A=
c.710A= (p.Lys237=)
c.1319A= (p.Lys440=)
c.1343A= (p.Lys448=)
c.2006A= (n.2006A=)
c.*1524A= (n.*1524A=)
c.*543A= (n.*543A=)
c.1277A= (p.Lys426=)
c.1253A= (p.Lys418=)
n.617A=
n.6290A=
c.781A=
c.1256A= (p.Lys419=)
c.1412A= (p.Lys471=)
c.1463A= (p.Lys488=)
c.*921A= (n.*921A=)
c.1440A= (n.1440A=)
c.1334A= (p.Lys445=)
c.*177A= (n.*177A=)
c.1340A= (p.Lys447=)
c.1316A= (p.Lys439=)
c.1382A= (p.Lys461=)
c.899A= (p.Lys300=)
c.923A= (p.Lys308=)
5g.162153283A>CCA362183884GABRG2c.1344A>C
c.1439A>C (p.Lys480Thr)
c.1402A>C
n.597A>C
c.1034A>C (p.Lys345Thr)
c.1058A>C (p.Lys353Thr)
c.*3940A>C (n.*3940A>C)
c.1220A>C
c.710A>C (p.Lys237Thr)
c.1319A>C (p.Lys440Thr)
c.1343A>C (p.Lys448Thr)
c.2006A>C (n.2006A>C)
c.*1524A>C (n.*1524A>C)
c.*543A>C (n.*543A>C)
c.1277A>C (p.Lys426Thr)
c.1253A>C (p.Lys418Thr)
n.617A>C
n.6290A>C
c.781A>C
c.1256A>C (p.Lys419Thr)
c.1412A>C (p.Lys471Thr)
c.1463A>C (p.Lys488Thr)
c.*921A>C (n.*921A>C)
c.1440A>C (n.1440A>C)
c.1334A>C (p.Lys445Thr)
c.*177A>C (n.*177A>C)
c.1340A>C (p.Lys447Thr)
c.1316A>C (p.Lys439Thr)
c.1382A>C (p.Lys461Thr)
c.899A>C (p.Lys300Thr)
c.923A>C (p.Lys308Thr)
5g.162153283A>GCA131117676GABRG2c.1344A>G
c.1439A>G (p.Lys480Arg)
c.1402A>G
n.597A>G
c.1034A>G (p.Lys345Arg)
c.1058A>G (p.Lys353Arg)
c.*3940A>G (n.*3940A>G)
c.1220A>G
c.710A>G (p.Lys237Arg)
c.1319A>G (p.Lys440Arg)
c.1343A>G (p.Lys448Arg)
c.2006A>G (n.2006A>G)
c.*1524A>G (n.*1524A>G)
c.*543A>G (n.*543A>G)
c.1277A>G (p.Lys426Arg)
c.1253A>G (p.Lys418Arg)
n.617A>G
n.6290A>G
c.781A>G
c.1256A>G (p.Lys419Arg)
c.1412A>G (p.Lys471Arg)
c.1463A>G (p.Lys488Arg)
c.*921A>G (n.*921A>G)
c.1440A>G (n.1440A>G)
c.1334A>G (p.Lys445Arg)
c.*177A>G (n.*177A>G)
c.1340A>G (p.Lys447Arg)
c.1316A>G (p.Lys439Arg)
c.1382A>G (p.Lys461Arg)
c.899A>G (p.Lys300Arg)
c.923A>G (p.Lys308Arg)
 dbSNP gnomAD v4
5g.162153283A>TCA362183885GABRG2c.1344A>T
c.1439A>T (p.Lys480Ile)
c.1402A>T
n.597A>T
c.1034A>T (p.Lys345Ile)
c.1058A>T (p.Lys353Ile)
c.*3940A>T (n.*3940A>T)
c.1220A>T
c.710A>T (p.Lys237Ile)
c.1319A>T (p.Lys440Ile)
c.1343A>T (p.Lys448Ile)
c.2006A>T (n.2006A>T)
c.*1524A>T (n.*1524A>T)
c.*543A>T (n.*543A>T)
c.1277A>T (p.Lys426Ile)
c.1253A>T (p.Lys418Ile)
n.617A>T
n.6290A>T
c.781A>T
c.1256A>T (p.Lys419Ile)
c.1412A>T (p.Lys471Ile)
c.1463A>T (p.Lys488Ile)
c.*921A>T (n.*921A>T)
c.1440A>T (n.1440A>T)
c.1334A>T (p.Lys445Ile)
c.*177A>T (n.*177A>T)
c.1340A>T (p.Lys447Ile)
c.1316A>T (p.Lys439Ile)
c.1382A>T (p.Lys461Ile)
c.899A>T (p.Lys300Ile)
c.923A>T (p.Lys308Ile)
5g.162153284A>CCA362183886GABRG2c.1345A>C
c.1440A>C (p.Lys480Asn)
c.1403A>C
n.598A>C
c.1035A>C (p.Lys345Asn)
c.1059A>C (p.Lys353Asn)
c.*3941A>C (n.*3941A>C)
c.1221A>C
c.711A>C (p.Lys237Asn)
c.1320A>C (p.Lys440Asn)
c.1344A>C (p.Lys448Asn)
c.2007A>C (n.2007A>C)
c.*1525A>C (n.*1525A>C)
c.*544A>C (n.*544A>C)
c.1278A>C (p.Lys426Asn)
c.1254A>C (p.Lys418Asn)
n.618A>C
n.6291A>C
c.782A>C
c.1257A>C (p.Lys419Asn)
c.1413A>C (p.Lys471Asn)
c.1464A>C (p.Lys488Asn)
c.*922A>C (n.*922A>C)
c.1441A>C (n.1441A>C)
c.1335A>C (p.Lys445Asn)
c.*178A>C (n.*178A>C)
c.1341A>C (p.Lys447Asn)
c.1317A>C (p.Lys439Asn)
c.1383A>C (p.Lys461Asn)
c.900A>C (p.Lys300Asn)
c.924A>C (p.Lys308Asn)
5g.162153284A>GCA447691950GABRG2c.1345A>G
c.1440A>G (p.Lys480=)
c.1403A>G
n.598A>G
c.1035A>G (p.Lys345=)
c.1059A>G (p.Lys353=)
c.*3941A>G (n.*3941A>G)
c.1221A>G
c.711A>G (p.Lys237=)
c.1320A>G (p.Lys440=)
c.1344A>G (p.Lys448=)
c.2007A>G (n.2007A>G)
c.*1525A>G (n.*1525A>G)
c.*544A>G (n.*544A>G)
c.1278A>G (p.Lys426=)
c.1254A>G (p.Lys418=)
n.618A>G
n.6291A>G
c.782A>G
c.1257A>G (p.Lys419=)
c.1413A>G (p.Lys471=)
c.1464A>G (p.Lys488=)
c.*922A>G (n.*922A>G)
c.1441A>G (n.1441A>G)
c.1335A>G (p.Lys445=)
c.*178A>G (n.*178A>G)
c.1341A>G (p.Lys447=)
c.1317A>G (p.Lys439=)
c.1383A>G (p.Lys461=)
c.900A>G (p.Lys300=)
c.924A>G (p.Lys308=)
5g.162153284A>TCA362183888GABRG2c.1345A>T
c.1440A>T (p.Lys480Asn)
c.1403A>T
n.598A>T
c.1035A>T (p.Lys345Asn)
c.1059A>T (p.Lys353Asn)
c.*3941A>T (n.*3941A>T)
c.1221A>T
c.711A>T (p.Lys237Asn)
c.1320A>T (p.Lys440Asn)
c.1344A>T (p.Lys448Asn)
c.2007A>T (n.2007A>T)
c.*1525A>T (n.*1525A>T)
c.*544A>T (n.*544A>T)
c.1278A>T (p.Lys426Asn)
c.1254A>T (p.Lys418Asn)
n.618A>T
n.6291A>T
c.782A>T
c.1257A>T (p.Lys419Asn)
c.1413A>T (p.Lys471Asn)
c.1464A>T (p.Lys488Asn)
c.*922A>T (n.*922A>T)
c.1441A>T (n.1441A>T)
c.1335A>T (p.Lys445Asn)
c.*178A>T (n.*178A>T)
c.1341A>T (p.Lys447Asn)
c.1317A>T (p.Lys439Asn)
c.1383A>T (p.Lys461Asn)
c.900A>T (p.Lys300Asn)
c.924A>T (p.Lys308Asn)
5g.162153285A>CCA362183890GABRG2c.1346A>C
c.1441A>C (p.Met481Leu)
c.1404A>C
n.599A>C
c.1036A>C (p.Met346Leu)
c.1060A>C (p.Met354Leu)
c.*3942A>C (n.*3942A>C)
c.1222A>C
c.712A>C (p.Met238Leu)
c.1321A>C (p.Met441Leu)
c.1345A>C (p.Met449Leu)
c.2008A>C (n.2008A>C)
c.*1526A>C (n.*1526A>C)
c.*545A>C (n.*545A>C)
c.1279A>C (p.Met427Leu)
c.1255A>C (p.Met419Leu)
n.619A>C
n.6292A>C
c.783A>C
c.1258A>C (p.Met420Leu)
c.1414A>C (p.Met472Leu)
c.1465A>C (p.Met489Leu)
c.*923A>C (n.*923A>C)
c.1442A>C (n.1442A>C)
c.1336A>C (p.Met446Leu)
c.*179A>C (n.*179A>C)
c.1342A>C (p.Met448Leu)
c.1318A>C (p.Met440Leu)
c.1384A>C (p.Met462Leu)
c.901A>C (p.Met301Leu)
c.925A>C (p.Met309Leu)
5g.162153285A>GCA362183892GABRG2c.1346A>G
c.1441A>G (p.Met481Val)
c.1404A>G
n.599A>G
c.1036A>G (p.Met346Val)
c.1060A>G (p.Met354Val)
c.*3942A>G (n.*3942A>G)
c.1222A>G
c.712A>G (p.Met238Val)
c.1321A>G (p.Met441Val)
c.1345A>G (p.Met449Val)
c.2008A>G (n.2008A>G)
c.*1526A>G (n.*1526A>G)
c.*545A>G (n.*545A>G)
c.1279A>G (p.Met427Val)
c.1255A>G (p.Met419Val)
n.619A>G
n.6292A>G
c.783A>G
c.1258A>G (p.Met420Val)
c.1414A>G (p.Met472Val)
c.1465A>G (p.Met489Val)
c.*923A>G (n.*923A>G)
c.1442A>G (n.1442A>G)
c.1336A>G (p.Met446Val)
c.*179A>G (n.*179A>G)
c.1342A>G (p.Met448Val)
c.1318A>G (p.Met440Val)
c.1384A>G (p.Met462Val)
c.901A>G (p.Met301Val)
c.925A>G (p.Met309Val)
5g.162153285A>TCA362183894GABRG2c.1346A>T
c.1441A>T (p.Met481Leu)
c.1404A>T
n.599A>T
c.1036A>T (p.Met346Leu)
c.1060A>T (p.Met354Leu)
c.*3942A>T (n.*3942A>T)
c.1222A>T
c.712A>T (p.Met238Leu)
c.1321A>T (p.Met441Leu)
c.1345A>T (p.Met449Leu)
c.2008A>T (n.2008A>T)
c.*1526A>T (n.*1526A>T)
c.*545A>T (n.*545A>T)
c.1279A>T (p.Met427Leu)
c.1255A>T (p.Met419Leu)
n.619A>T
n.6292A>T
c.783A>T
c.1258A>T (p.Met420Leu)
c.1414A>T (p.Met472Leu)
c.1465A>T (p.Met489Leu)
c.*923A>T (n.*923A>T)
c.1442A>T (n.1442A>T)
c.1336A>T (p.Met446Leu)
c.*179A>T (n.*179A>T)
c.1342A>T (p.Met448Leu)
c.1318A>T (p.Met440Leu)
c.1384A>T (p.Met462Leu)
c.901A>T (p.Met301Leu)
c.925A>T (p.Met309Leu)
 gnomAD v4
5g.162153286T>ACA362183898GABRG2c.1347T>A
c.1442T>A (p.Met481Lys)
c.1405T>A
n.600T>A
c.1037T>A (p.Met346Lys)
c.1061T>A (p.Met354Lys)
c.*3943T>A (n.*3943T>A)
c.1223T>A
c.713T>A (p.Met238Lys)
c.1322T>A (p.Met441Lys)
c.1346T>A (p.Met449Lys)
c.2009T>A (n.2009T>A)
c.*1527T>A (n.*1527T>A)
c.*546T>A (n.*546T>A)
c.1280T>A (p.Met427Lys)
c.1256T>A (p.Met419Lys)
n.620T>A
n.6293T>A
c.784T>A
c.1259T>A (p.Met420Lys)
c.1415T>A (p.Met472Lys)
c.1466T>A (p.Met489Lys)
c.*924T>A (n.*924T>A)
c.1443T>A (n.1443T>A)
c.1337T>A (p.Met446Lys)
c.*180T>A (n.*180T>A)
c.1343T>A (p.Met448Lys)
c.1319T>A (p.Met440Lys)
c.1385T>A (p.Met462Lys)
c.902T>A (p.Met301Lys)
c.926T>A (p.Met309Lys)
 ClinVar dbSNP
5g.162153286T>CCA362183900GABRG2c.1347T>C
c.1442T>C (p.Met481Thr)
c.1405T>C
n.600T>C
c.1037T>C (p.Met346Thr)
c.1061T>C (p.Met354Thr)
c.*3943T>C (n.*3943T>C)
c.1223T>C
c.713T>C (p.Met238Thr)
c.1322T>C (p.Met441Thr)
c.1346T>C (p.Met449Thr)
c.2009T>C (n.2009T>C)
c.*1527T>C (n.*1527T>C)
c.*546T>C (n.*546T>C)
c.1280T>C (p.Met427Thr)
c.1256T>C (p.Met419Thr)
n.620T>C
n.6293T>C
c.784T>C
c.1259T>C (p.Met420Thr)
c.1415T>C (p.Met472Thr)
c.1466T>C (p.Met489Thr)
c.*924T>C (n.*924T>C)
c.1443T>C (n.1443T>C)
c.1337T>C (p.Met446Thr)
c.*180T>C (n.*180T>C)
c.1343T>C (p.Met448Thr)
c.1319T>C (p.Met440Thr)
c.1385T>C (p.Met462Thr)
c.902T>C (p.Met301Thr)
c.926T>C (p.Met309Thr)
5g.162153286T>GCA362183896GABRG2c.1347T>G
c.1442T>G (p.Met481Arg)
c.1405T>G
n.600T>G
c.1037T>G (p.Met346Arg)
c.1061T>G (p.Met354Arg)
c.*3943T>G (n.*3943T>G)
c.1223T>G
c.713T>G (p.Met238Arg)
c.1322T>G (p.Met441Arg)
c.1346T>G (p.Met449Arg)
c.2009T>G (n.2009T>G)
c.*1527T>G (n.*1527T>G)
c.*546T>G (n.*546T>G)
c.1280T>G (p.Met427Arg)
c.1256T>G (p.Met419Arg)
n.620T>G
n.6293T>G
c.784T>G
c.1259T>G (p.Met420Arg)
c.1415T>G (p.Met472Arg)
c.1466T>G (p.Met489Arg)
c.*924T>G (n.*924T>G)
c.1443T>G (n.1443T>G)
c.1337T>G (p.Met446Arg)
c.*180T>G (n.*180T>G)
c.1343T>G (p.Met448Arg)
c.1319T>G (p.Met440Arg)
c.1385T>G (p.Met462Arg)
c.902T>G (p.Met301Arg)
c.926T>G (p.Met309Arg)
5g.162153287G>ACA362183903GABRG2c.1348G>A
c.1443G>A (p.Met481Ile)
c.1406G>A
n.601G>A
c.1038G>A (p.Met346Ile)
c.1062G>A (p.Met354Ile)
c.*3944G>A (n.*3944G>A)
c.1224G>A
c.714G>A (p.Met238Ile)
c.1323G>A (p.Met441Ile)
c.1347G>A (p.Met449Ile)
c.2010G>A (n.2010G>A)
c.*1528G>A (n.*1528G>A)
c.*547G>A (n.*547G>A)
c.1281G>A (p.Met427Ile)
c.1257G>A (p.Met419Ile)
n.621G>A
n.6294G>A
c.785G>A
c.1260G>A (p.Met420Ile)
c.1416G>A (p.Met472Ile)
c.1467G>A (p.Met489Ile)
c.*925G>A (n.*925G>A)
c.1444G>A (n.1444G>A)
c.1338G>A (p.Met446Ile)
c.*181G>A (n.*181G>A)
c.1344G>A (p.Met448Ile)
c.1320G>A (p.Met440Ile)
c.1386G>A (p.Met462Ile)
c.903G>A (p.Met301Ile)
c.927G>A (p.Met309Ile)
 ClinVar dbSNP
5g.162153287G>CCA362183905GABRG2c.1348G>C
c.1443G>C (p.Met481Ile)
c.1406G>C
n.601G>C
c.1038G>C (p.Met346Ile)
c.1062G>C (p.Met354Ile)
c.*3944G>C (n.*3944G>C)
c.1224G>C
c.714G>C (p.Met238Ile)
c.1323G>C (p.Met441Ile)
c.1347G>C (p.Met449Ile)
c.2010G>C (n.2010G>C)
c.*1528G>C (n.*1528G>C)
c.*547G>C (n.*547G>C)
c.1281G>C (p.Met427Ile)
c.1257G>C (p.Met419Ile)
n.621G>C
n.6294G>C
c.785G>C
c.1260G>C (p.Met420Ile)
c.1416G>C (p.Met472Ile)
c.1467G>C (p.Met489Ile)
c.*925G>C (n.*925G>C)
c.1444G>C (n.1444G>C)
c.1338G>C (p.Met446Ile)
c.*181G>C (n.*181G>C)
c.1344G>C (p.Met448Ile)
c.1320G>C (p.Met440Ile)
c.1386G>C (p.Met462Ile)
c.903G>C (p.Met301Ile)
c.927G>C (p.Met309Ile)
5g.162153287G>TCA362183906GABRG2c.1348G>T
c.1443G>T (p.Met481Ile)
c.1406G>T
n.601G>T
c.1038G>T (p.Met346Ile)
c.1062G>T (p.Met354Ile)
c.*3944G>T (n.*3944G>T)
c.1224G>T
c.714G>T (p.Met238Ile)
c.1323G>T (p.Met441Ile)
c.1347G>T (p.Met449Ile)
c.2010G>T (n.2010G>T)
c.*1528G>T (n.*1528G>T)
c.*547G>T (n.*547G>T)
c.1281G>T (p.Met427Ile)
c.1257G>T (p.Met419Ile)
n.621G>T
n.6294G>T
c.785G>T
c.1260G>T (p.Met420Ile)
c.1416G>T (p.Met472Ile)
c.1467G>T (p.Met489Ile)
c.*925G>T (n.*925G>T)
c.1444G>T (n.1444G>T)
c.1338G>T (p.Met446Ile)
c.*181G>T (n.*181G>T)
c.1344G>T (p.Met448Ile)
c.1320G>T (p.Met440Ile)
c.1386G>T (p.Met462Ile)
c.903G>T (p.Met301Ile)
c.927G>T (p.Met309Ile)
 gnomAD v4
5g.162153288G>ACA362183910GABRG2c.1349G>A
c.1444G>A (p.Asp482Asn)
c.1407G>A
n.602G>A
c.1039G>A (p.Asp347Asn)
c.1063G>A (p.Asp355Asn)
c.*3945G>A (n.*3945G>A)
c.1225G>A
c.715G>A (p.Asp239Asn)
c.1324G>A (p.Asp442Asn)
c.1348G>A (p.Asp450Asn)
c.2011G>A (n.2011G>A)
c.*1529G>A (n.*1529G>A)
c.*548G>A (n.*548G>A)
c.1282G>A (p.Asp428Asn)
c.1258G>A (p.Asp420Asn)
n.622G>A
n.6295G>A
c.786G>A
c.1261G>A (p.Asp421Asn)
c.1417G>A (p.Asp473Asn)
c.1468G>A (p.Asp490Asn)
c.*926G>A (n.*926G>A)
c.1445G>A (n.1445G>A)
c.1339G>A (p.Asp447Asn)
c.*182G>A (n.*182G>A)
c.1345G>A (p.Asp449Asn)
c.1321G>A (p.Asp441Asn)
c.1387G>A (p.Asp463Asn)
c.904G>A (p.Asp302Asn)
c.928G>A (p.Asp310Asn)
 ClinVar gnomAD v4 COSMIC
5g.162153288G>CCA362183912GABRG2c.1349G>C
c.1444G>C (p.Asp482His)
c.1407G>C
n.602G>C
c.1039G>C (p.Asp347His)
c.1063G>C (p.Asp355His)
c.*3945G>C (n.*3945G>C)
c.1225G>C
c.715G>C (p.Asp239His)
c.1324G>C (p.Asp442His)
c.1348G>C (p.Asp450His)
c.2011G>C (n.2011G>C)
c.*1529G>C (n.*1529G>C)
c.*548G>C (n.*548G>C)
c.1282G>C (p.Asp428His)
c.1258G>C (p.Asp420His)
n.622G>C
n.6295G>C
c.786G>C
c.1261G>C (p.Asp421His)
c.1417G>C (p.Asp473His)
c.1468G>C (p.Asp490His)
c.*926G>C (n.*926G>C)
c.1445G>C (n.1445G>C)
c.1339G>C (p.Asp447His)
c.*182G>C (n.*182G>C)
c.1345G>C (p.Asp449His)
c.1321G>C (p.Asp441His)
c.1387G>C (p.Asp463His)
c.904G>C (p.Asp302His)
c.928G>C (p.Asp310His)
 ClinVar
5g.162153288G>TCA362183914GABRG2c.1349G>T
c.1444G>T (p.Asp482Tyr)
c.1407G>T
n.602G>T
c.1039G>T (p.Asp347Tyr)
c.1063G>T (p.Asp355Tyr)
c.*3945G>T (n.*3945G>T)
c.1225G>T
c.715G>T (p.Asp239Tyr)
c.1324G>T (p.Asp442Tyr)
c.1348G>T (p.Asp450Tyr)
c.2011G>T (n.2011G>T)
c.*1529G>T (n.*1529G>T)
c.*548G>T (n.*548G>T)
c.1282G>T (p.Asp428Tyr)
c.1258G>T (p.Asp420Tyr)
n.622G>T
n.6295G>T
c.786G>T
c.1261G>T (p.Asp421Tyr)
c.1417G>T (p.Asp473Tyr)
c.1468G>T (p.Asp490Tyr)
c.*926G>T (n.*926G>T)
c.1445G>T (n.1445G>T)
c.1339G>T (p.Asp447Tyr)
c.*182G>T (n.*182G>T)
c.1345G>T (p.Asp449Tyr)
c.1321G>T (p.Asp441Tyr)
c.1387G>T (p.Asp463Tyr)
c.904G>T (p.Asp302Tyr)
c.928G>T (p.Asp310Tyr)
5g.162153289A>CCA362183916GABRG2c.1350A>C
c.1445A>C (p.Asp482Ala)
c.1408A>C
n.603A>C
c.1040A>C (p.Asp347Ala)
c.1064A>C (p.Asp355Ala)
c.*3946A>C (n.*3946A>C)
c.1226A>C
c.716A>C (p.Asp239Ala)
c.1325A>C (p.Asp442Ala)
c.1349A>C (p.Asp450Ala)
c.2012A>C (n.2012A>C)
c.*1530A>C (n.*1530A>C)
c.*549A>C (n.*549A>C)
c.1283A>C (p.Asp428Ala)
c.1259A>C (p.Asp420Ala)
n.623A>C
n.6296A>C
c.787A>C
c.1262A>C (p.Asp421Ala)
c.1418A>C (p.Asp473Ala)
c.1469A>C (p.Asp490Ala)
c.*927A>C (n.*927A>C)
c.1446A>C (n.1446A>C)
c.1340A>C (p.Asp447Ala)
c.*183A>C (n.*183A>C)
c.1346A>C (p.Asp449Ala)
c.1322A>C (p.Asp441Ala)
c.1388A>C (p.Asp463Ala)
c.905A>C (p.Asp302Ala)
c.929A>C (p.Asp310Ala)
5g.162153289A>GCA362183918GABRG2c.1350A>G
c.1445A>G (p.Asp482Gly)
c.1408A>G
n.603A>G
c.1040A>G (p.Asp347Gly)
c.1064A>G (p.Asp355Gly)
c.*3946A>G (n.*3946A>G)
c.1226A>G
c.716A>G (p.Asp239Gly)
c.1325A>G (p.Asp442Gly)
c.1349A>G (p.Asp450Gly)
c.2012A>G (n.2012A>G)
c.*1530A>G (n.*1530A>G)
c.*549A>G (n.*549A>G)
c.1283A>G (p.Asp428Gly)
c.1259A>G (p.Asp420Gly)
n.623A>G
n.6296A>G
c.787A>G
c.1262A>G (p.Asp421Gly)
c.1418A>G (p.Asp473Gly)
c.1469A>G (p.Asp490Gly)
c.*927A>G (n.*927A>G)
c.1446A>G (n.1446A>G)
c.1340A>G (p.Asp447Gly)
c.*183A>G (n.*183A>G)
c.1346A>G (p.Asp449Gly)
c.1322A>G (p.Asp441Gly)
c.1388A>G (p.Asp463Gly)
c.905A>G (p.Asp302Gly)
c.929A>G (p.Asp310Gly)
5g.162153289A>TCA362183920GABRG2c.1350A>T
c.1445A>T (p.Asp482Val)
c.1408A>T
n.603A>T
c.1040A>T (p.Asp347Val)
c.1064A>T (p.Asp355Val)
c.*3946A>T (n.*3946A>T)
c.1226A>T
c.716A>T (p.Asp239Val)
c.1325A>T (p.Asp442Val)
c.1349A>T (p.Asp450Val)
c.2012A>T (n.2012A>T)
c.*1530A>T (n.*1530A>T)
c.*549A>T (n.*549A>T)
c.1283A>T (p.Asp428Val)
c.1259A>T (p.Asp420Val)
n.623A>T
n.6296A>T
c.787A>T
c.1262A>T (p.Asp421Val)
c.1418A>T (p.Asp473Val)
c.1469A>T (p.Asp490Val)
c.*927A>T (n.*927A>T)
c.1446A>T (n.1446A>T)
c.1340A>T (p.Asp447Val)
c.*183A>T (n.*183A>T)
c.1346A>T (p.Asp449Val)
c.1322A>T (p.Asp441Val)
c.1388A>T (p.Asp463Val)
c.905A>T (p.Asp302Val)
c.929A>T (p.Asp310Val)
5g.162153290C>ACA362183922GABRG2c.1351C>A
c.1446C>A (p.Asp482Glu)
c.1409C>A
n.604C>A
c.1041C>A (p.Asp347Glu)
c.1065C>A (p.Asp355Glu)
c.*3947C>A (n.*3947C>A)
c.1227C>A
c.717C>A (p.Asp239Glu)
c.1326C>A (p.Asp442Glu)
c.1350C>A (p.Asp450Glu)
c.2013C>A (n.2013C>A)
c.*1531C>A (n.*1531C>A)
c.*550C>A (n.*550C>A)
c.1284C>A (p.Asp428Glu)
c.1260C>A (p.Asp420Glu)
n.624C>A
n.6297C>A
c.788C>A
c.1263C>A (p.Asp421Glu)
c.1419C>A (p.Asp473Glu)
c.1470C>A (p.Asp490Glu)
c.*928C>A (n.*928C>A)
c.1447C>A (n.1447C>A)
c.1341C>A (p.Asp447Glu)
c.*184C>A (n.*184C>A)
c.1347C>A (p.Asp449Glu)
c.1323C>A (p.Asp441Glu)
c.1389C>A (p.Asp463Glu)
c.906C>A (p.Asp302Glu)
c.930C>A (p.Asp310Glu)
5g.162153290C=CA1596382188GABRG2c.1351C=
c.1446C= (p.Asp482=)
c.1409C=
n.604C=
c.1041C= (p.Asp347=)
c.1065C= (p.Asp355=)
c.*3947C= (n.*3947C=)
c.1227C=
c.717C= (p.Asp239=)
c.1326C= (p.Asp442=)
c.1350C= (p.Asp450=)
c.2013C= (n.2013C=)
c.*1531C= (n.*1531C=)
c.*550C= (n.*550C=)
c.1284C= (p.Asp428=)
c.1260C= (p.Asp420=)
n.624C=
n.6297C=
c.788C=
c.1263C= (p.Asp421=)
c.1419C= (p.Asp473=)
c.1470C= (p.Asp490=)
c.*928C= (n.*928C=)
c.1447C= (n.1447C=)
c.1341C= (p.Asp447=)
c.*184C= (n.*184C=)
c.1347C= (p.Asp449=)
c.1323C= (p.Asp441=)
c.1389C= (p.Asp463=)
c.906C= (p.Asp302=)
c.930C= (p.Asp310=)
5g.162153290C>GCA362183924GABRG2c.1351C>G
c.1446C>G (p.Asp482Glu)
c.1409C>G
n.604C>G
c.1041C>G (p.Asp347Glu)
c.1065C>G (p.Asp355Glu)
c.*3947C>G (n.*3947C>G)
c.1227C>G
c.717C>G (p.Asp239Glu)
c.1326C>G (p.Asp442Glu)
c.1350C>G (p.Asp450Glu)
c.2013C>G (n.2013C>G)
c.*1531C>G (n.*1531C>G)
c.*550C>G (n.*550C>G)
c.1284C>G (p.Asp428Glu)
c.1260C>G (p.Asp420Glu)
n.624C>G
n.6297C>G
c.788C>G
c.1263C>G (p.Asp421Glu)
c.1419C>G (p.Asp473Glu)
c.1470C>G (p.Asp490Glu)
c.*928C>G (n.*928C>G)
c.1447C>G (n.1447C>G)
c.1341C>G (p.Asp447Glu)
c.*184C>G (n.*184C>G)
c.1347C>G (p.Asp449Glu)
c.1323C>G (p.Asp441Glu)
c.1389C>G (p.Asp463Glu)
c.906C>G (p.Asp302Glu)
c.930C>G (p.Asp310Glu)
5g.162153290C>TCA3544994GABRG2c.1351C>T
c.1446C>T (p.Asp482=)
c.1409C>T
n.604C>T
c.1041C>T (p.Asp347=)
c.1065C>T (p.Asp355=)
c.*3947C>T (n.*3947C>T)
c.1227C>T
c.717C>T (p.Asp239=)
c.1326C>T (p.Asp442=)
c.1350C>T (p.Asp450=)
c.2013C>T (n.2013C>T)
c.*1531C>T (n.*1531C>T)
c.*550C>T (n.*550C>T)
c.1284C>T (p.Asp428=)
c.1260C>T (p.Asp420=)
n.624C>T
n.6297C>T
c.788C>T
c.1263C>T (p.Asp421=)
c.1419C>T (p.Asp473=)
c.1470C>T (p.Asp490=)
c.*928C>T (n.*928C>T)
c.1447C>T (n.1447C>T)
c.1341C>T (p.Asp447=)
c.*184C>T (n.*184C>T)
c.1347C>T (p.Asp449=)
c.1323C>T (p.Asp441=)
c.1389C>T (p.Asp463=)
c.906C>T (p.Asp302=)
c.930C>T (p.Asp310=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.162153291T>ACA362183932GABRG2c.1352T>A
c.1447T>A (p.Ser483Thr)
c.1410T>A
n.605T>A
c.1042T>A (p.Ser348Thr)
c.1066T>A (p.Ser356Thr)
c.*3948T>A (n.*3948T>A)
c.1228T>A
c.718T>A (p.Ser240Thr)
c.1327T>A (p.Ser443Thr)
c.1351T>A (p.Ser451Thr)
c.2014T>A (n.2014T>A)
c.*1532T>A (n.*1532T>A)
c.*551T>A (n.*551T>A)
c.1285T>A (p.Ser429Thr)
c.1261T>A (p.Ser421Thr)
n.625T>A
n.6298T>A
c.789T>A
c.1264T>A (p.Ser422Thr)
c.1420T>A (p.Ser474Thr)
c.1471T>A (p.Ser491Thr)
c.*929T>A (n.*929T>A)
c.1448T>A (n.1448T>A)
c.1342T>A (p.Ser448Thr)
c.*185T>A (n.*185T>A)
c.1348T>A (p.Ser450Thr)
c.1324T>A (p.Ser442Thr)
c.1390T>A (p.Ser464Thr)
c.907T>A (p.Ser303Thr)
c.931T>A (p.Ser311Thr)
5g.162153291T>CCA362183929GABRG2c.1352T>C
c.1447T>C (p.Ser483Pro)
c.1410T>C
n.605T>C
c.1042T>C (p.Ser348Pro)
c.1066T>C (p.Ser356Pro)
c.*3948T>C (n.*3948T>C)
c.1228T>C
c.718T>C (p.Ser240Pro)
c.1327T>C (p.Ser443Pro)
c.1351T>C (p.Ser451Pro)
c.2014T>C (n.2014T>C)
c.*1532T>C (n.*1532T>C)
c.*551T>C (n.*551T>C)
c.1285T>C (p.Ser429Pro)
c.1261T>C (p.Ser421Pro)
n.625T>C
n.6298T>C
c.789T>C
c.1264T>C (p.Ser422Pro)
c.1420T>C (p.Ser474Pro)
c.1471T>C (p.Ser491Pro)
c.*929T>C (n.*929T>C)
c.1448T>C (n.1448T>C)
c.1342T>C (p.Ser448Pro)
c.*185T>C (n.*185T>C)
c.1348T>C (p.Ser450Pro)
c.1324T>C (p.Ser442Pro)
c.1390T>C (p.Ser464Pro)
c.907T>C (p.Ser303Pro)
c.931T>C (p.Ser311Pro)
5g.162153291T>GCA362183928GABRG2c.1352T>G
c.1447T>G (p.Ser483Ala)
c.1410T>G
n.605T>G
c.1042T>G (p.Ser348Ala)
c.1066T>G (p.Ser356Ala)
c.*3948T>G (n.*3948T>G)
c.1228T>G
c.718T>G (p.Ser240Ala)
c.1327T>G (p.Ser443Ala)
c.1351T>G (p.Ser451Ala)
c.2014T>G (n.2014T>G)
c.*1532T>G (n.*1532T>G)
c.*551T>G (n.*551T>G)
c.1285T>G (p.Ser429Ala)
c.1261T>G (p.Ser421Ala)
n.625T>G
n.6298T>G
c.789T>G
c.1264T>G (p.Ser422Ala)
c.1420T>G (p.Ser474Ala)
c.1471T>G (p.Ser491Ala)
c.*929T>G (n.*929T>G)
c.1448T>G (n.1448T>G)
c.1342T>G (p.Ser448Ala)
c.*185T>G (n.*185T>G)
c.1348T>G (p.Ser450Ala)
c.1324T>G (p.Ser442Ala)
c.1390T>G (p.Ser464Ala)
c.907T>G (p.Ser303Ala)
c.931T>G (p.Ser311Ala)
 dbSNP gnomAD v2 gnomAD v4
5g.162153291T=CA1596382197GABRG2c.1352T=
c.1447T= (p.Ser483=)
c.1410T=
n.605T=
c.1042T= (p.Ser348=)
c.1066T= (p.Ser356=)
c.*3948T= (n.*3948T=)
c.1228T=
c.718T= (p.Ser240=)
c.1327T= (p.Ser443=)
c.1351T= (p.Ser451=)
c.2014T= (n.2014T=)
c.*1532T= (n.*1532T=)
c.*551T= (n.*551T=)
c.1285T= (p.Ser429=)
c.1261T= (p.Ser421=)
n.625T=
n.6298T=
c.789T=
c.1264T= (p.Ser422=)
c.1420T= (p.Ser474=)
c.1471T= (p.Ser491=)
c.*929T= (n.*929T=)
c.1448T= (n.1448T=)
c.1342T= (p.Ser448=)
c.*185T= (n.*185T=)
c.1348T= (p.Ser450=)
c.1324T= (p.Ser442=)
c.1390T= (p.Ser464=)
c.907T= (p.Ser303=)
c.931T= (p.Ser311=)
5g.162153292C>ACA362183934GABRG2c.1353C>A
c.1448C>A (p.Ser483Tyr)
c.1411C>A
n.606C>A
c.1043C>A (p.Ser348Tyr)
c.1067C>A (p.Ser356Tyr)
c.*3949C>A (n.*3949C>A)
c.1229C>A
c.719C>A (p.Ser240Tyr)
c.1328C>A (p.Ser443Tyr)
c.1352C>A (p.Ser451Tyr)
c.2015C>A (n.2015C>A)
c.*1533C>A (n.*1533C>A)
c.*552C>A (n.*552C>A)
c.1286C>A (p.Ser429Tyr)
c.1262C>A (p.Ser421Tyr)
n.626C>A
n.6299C>A
c.790C>A
c.1265C>A (p.Ser422Tyr)
c.1421C>A (p.Ser474Tyr)
c.1472C>A (p.Ser491Tyr)
c.*930C>A (n.*930C>A)
c.1449C>A (n.1449C>A)
c.1343C>A (p.Ser448Tyr)
c.*186C>A (n.*186C>A)
c.1349C>A (p.Ser450Tyr)
c.1325C>A (p.Ser442Tyr)
c.1391C>A (p.Ser464Tyr)
c.908C>A (p.Ser303Tyr)
c.932C>A (p.Ser311Tyr)
5g.162153292C=CA1596382202GABRG2c.1353C=
c.1448C= (p.Ser483=)
c.1411C=
n.606C=
c.1043C= (p.Ser348=)
c.1067C= (p.Ser356=)
c.*3949C= (n.*3949C=)
c.1229C=
c.719C= (p.Ser240=)
c.1328C= (p.Ser443=)
c.1352C= (p.Ser451=)
c.2015C= (n.2015C=)
c.*1533C= (n.*1533C=)
c.*552C= (n.*552C=)
c.1286C= (p.Ser429=)
c.1262C= (p.Ser421=)
n.626C=
n.6299C=
c.790C=
c.1265C= (p.Ser422=)
c.1421C= (p.Ser474=)
c.1472C= (p.Ser491=)
c.*930C= (n.*930C=)
c.1449C= (n.1449C=)
c.1343C= (p.Ser448=)
c.*186C= (n.*186C=)
c.1349C= (p.Ser450=)
c.1325C= (p.Ser442=)
c.1391C= (p.Ser464=)
c.908C= (p.Ser303=)
c.932C= (p.Ser311=)
5g.162153292C>GCA362183936GABRG2c.1353C>G
c.1448C>G (p.Ser483Cys)
c.1411C>G
n.606C>G
c.1043C>G (p.Ser348Cys)
c.1067C>G (p.Ser356Cys)
c.*3949C>G (n.*3949C>G)
c.1229C>G
c.719C>G (p.Ser240Cys)
c.1328C>G (p.Ser443Cys)
c.1352C>G (p.Ser451Cys)
c.2015C>G (n.2015C>G)
c.*1533C>G (n.*1533C>G)
c.*552C>G (n.*552C>G)
c.1286C>G (p.Ser429Cys)
c.1262C>G (p.Ser421Cys)
n.626C>G
n.6299C>G
c.790C>G
c.1265C>G (p.Ser422Cys)
c.1421C>G (p.Ser474Cys)
c.1472C>G (p.Ser491Cys)
c.*930C>G (n.*930C>G)
c.1449C>G (n.1449C>G)
c.1343C>G (p.Ser448Cys)
c.*186C>G (n.*186C>G)
c.1349C>G (p.Ser450Cys)
c.1325C>G (p.Ser442Cys)
c.1391C>G (p.Ser464Cys)
c.908C>G (p.Ser303Cys)
c.932C>G (p.Ser311Cys)
 COSMIC
5g.162153292C>TCA362183938GABRG2c.1353C>T
c.1448C>T (p.Ser483Phe)
c.1411C>T
n.606C>T
c.1043C>T (p.Ser348Phe)
c.1067C>T (p.Ser356Phe)
c.*3949C>T (n.*3949C>T)
c.1229C>T
c.719C>T (p.Ser240Phe)
c.1328C>T (p.Ser443Phe)
c.1352C>T (p.Ser451Phe)
c.2015C>T (n.2015C>T)
c.*1533C>T (n.*1533C>T)
c.*552C>T (n.*552C>T)
c.1286C>T (p.Ser429Phe)
c.1262C>T (p.Ser421Phe)
n.626C>T
n.6299C>T
c.790C>T
c.1265C>T (p.Ser422Phe)
c.1421C>T (p.Ser474Phe)
c.1472C>T (p.Ser491Phe)
c.*930C>T (n.*930C>T)
c.1449C>T (n.1449C>T)
c.1343C>T (p.Ser448Phe)
c.*186C>T (n.*186C>T)
c.1349C>T (p.Ser450Phe)
c.1325C>T (p.Ser442Phe)
c.1391C>T (p.Ser464Phe)
c.908C>T (p.Ser303Phe)
c.932C>T (p.Ser311Phe)
 dbSNP
5g.162153293delCA2695205690GABRG2c.1354del
c.1449del (p.Tyr484MetfsTer?)
c.1412del
n.607del
c.1044del (p.Tyr349MetfsTer?)
c.1068del (p.Tyr357MetfsTer?)
c.*3950del (n.*3950del)
c.1230del
c.720del (p.Tyr241MetfsTer?)
c.1329del (p.Tyr444MetfsTer?)
c.1353del (p.Tyr452MetfsTer?)
c.2016del (n.2016del)
c.*1534del (n.*1534del)
c.*553del (n.*553del)
c.1287del (p.Tyr430MetfsTer?)
c.1263del (p.Tyr422MetfsTer?)
n.627del
n.6300del
c.791del
c.1266del (p.Tyr423MetfsTer?)
c.1422del (p.Tyr475MetfsTer?)
c.1473del (p.Tyr492MetfsTer?)
c.*931del (n.*931del)
c.1450del (n.1450del)
c.1344del (p.Tyr449MetfsTer?)
c.*187del (n.*187del)
c.1350del (p.Tyr451MetfsTer?)
c.1326del (p.Tyr443MetfsTer?)
c.1392del (p.Tyr465MetfsTer?)
c.909del (p.Tyr304MetfsTer?)
c.933del (p.Tyr312MetfsTer?)
 ClinVar
5g.162153293C>ACA447691962GABRG2c.1354C>A
c.1449C>A (p.Ser483=)
c.1412C>A
n.607C>A
c.1044C>A (p.Ser348=)
c.1068C>A (p.Ser356=)
c.*3950C>A (n.*3950C>A)
c.1230C>A
c.720C>A (p.Ser240=)
c.1329C>A (p.Ser443=)
c.1353C>A (p.Ser451=)
c.2016C>A (n.2016C>A)
c.*1534C>A (n.*1534C>A)
c.*553C>A (n.*553C>A)
c.1287C>A (p.Ser429=)
c.1263C>A (p.Ser421=)
n.627C>A
n.6300C>A
c.791C>A
c.1266C>A (p.Ser422=)
c.1422C>A (p.Ser474=)
c.1473C>A (p.Ser491=)
c.*931C>A (n.*931C>A)
c.1450C>A (n.1450C>A)
c.1344C>A (p.Ser448=)
c.*187C>A (n.*187C>A)
c.1350C>A (p.Ser450=)
c.1326C>A (p.Ser442=)
c.1392C>A (p.Ser464=)
c.909C>A (p.Ser303=)
c.933C>A (p.Ser311=)
5g.162153293C>GCA447691963GABRG2c.1354C>G
c.1449C>G (p.Ser483=)
c.1412C>G
n.607C>G
c.1044C>G (p.Ser348=)
c.1068C>G (p.Ser356=)
c.*3950C>G (n.*3950C>G)
c.1230C>G
c.720C>G (p.Ser240=)
c.1329C>G (p.Ser443=)
c.1353C>G (p.Ser451=)
c.2016C>G (n.2016C>G)
c.*1534C>G (n.*1534C>G)
c.*553C>G (n.*553C>G)
c.1287C>G (p.Ser429=)
c.1263C>G (p.Ser421=)
n.627C>G
n.6300C>G
c.791C>G
c.1266C>G (p.Ser422=)
c.1422C>G (p.Ser474=)
c.1473C>G (p.Ser491=)
c.*931C>G (n.*931C>G)
c.1450C>G (n.1450C>G)
c.1344C>G (p.Ser448=)
c.*187C>G (n.*187C>G)
c.1350C>G (p.Ser450=)
c.1326C>G (p.Ser442=)
c.1392C>G (p.Ser464=)
c.909C>G (p.Ser303=)
c.933C>G (p.Ser311=)
5g.162153293C>TCA447691964GABRG2c.1354C>T
c.1449C>T (p.Ser483=)
c.1412C>T
n.607C>T
c.1044C>T (p.Ser348=)
c.1068C>T (p.Ser356=)
c.*3950C>T (n.*3950C>T)
c.1230C>T
c.720C>T (p.Ser240=)
c.1329C>T (p.Ser443=)
c.1353C>T (p.Ser451=)
c.2016C>T (n.2016C>T)
c.*1534C>T (n.*1534C>T)
c.*553C>T (n.*553C>T)
c.1287C>T (p.Ser429=)
c.1263C>T (p.Ser421=)
n.627C>T
n.6300C>T
c.791C>T
c.1266C>T (p.Ser422=)
c.1422C>T (p.Ser474=)
c.1473C>T (p.Ser491=)
c.*931C>T (n.*931C>T)
c.1450C>T (n.1450C>T)
c.1344C>T (p.Ser448=)
c.*187C>T (n.*187C>T)
c.1350C>T (p.Ser450=)
c.1326C>T (p.Ser442=)
c.1392C>T (p.Ser464=)
c.909C>T (p.Ser303=)
c.933C>T (p.Ser311=)
5g.162153294T>ACA362183940GABRG2c.1355T>A
c.1450T>A (p.Tyr484Asn)
c.1413T>A
n.608T>A
c.1045T>A (p.Tyr349Asn)
c.1069T>A (p.Tyr357Asn)
c.*3951T>A (n.*3951T>A)
c.1231T>A
c.721T>A (p.Tyr241Asn)
c.1330T>A (p.Tyr444Asn)
c.1354T>A (p.Tyr452Asn)
c.2017T>A (n.2017T>A)
c.*1535T>A (n.*1535T>A)
c.*554T>A (n.*554T>A)
c.1288T>A (p.Tyr430Asn)
c.1264T>A (p.Tyr422Asn)
n.628T>A
n.6301T>A
c.792T>A
c.1267T>A (p.Tyr423Asn)
c.1423T>A (p.Tyr475Asn)
c.1474T>A (p.Tyr492Asn)
c.*932T>A (n.*932T>A)
c.1451T>A (n.1451T>A)
c.1345T>A (p.Tyr449Asn)
c.*188T>A (n.*188T>A)
c.1351T>A (p.Tyr451Asn)
c.1327T>A (p.Tyr443Asn)
c.1393T>A (p.Tyr465Asn)
c.910T>A (p.Tyr304Asn)
c.934T>A (p.Tyr312Asn)
5g.162153294T>CCA362183942GABRG2c.1355T>C
c.1450T>C (p.Tyr484His)
c.1413T>C
n.608T>C
c.1045T>C (p.Tyr349His)
c.1069T>C (p.Tyr357His)
c.*3951T>C (n.*3951T>C)
c.1231T>C
c.721T>C (p.Tyr241His)
c.1330T>C (p.Tyr444His)
c.1354T>C (p.Tyr452His)
c.2017T>C (n.2017T>C)
c.*1535T>C (n.*1535T>C)
c.*554T>C (n.*554T>C)
c.1288T>C (p.Tyr430His)
c.1264T>C (p.Tyr422His)
n.628T>C
n.6301T>C
c.792T>C
c.1267T>C (p.Tyr423His)
c.1423T>C (p.Tyr475His)
c.1474T>C (p.Tyr492His)
c.*932T>C (n.*932T>C)
c.1451T>C (n.1451T>C)
c.1345T>C (p.Tyr449His)
c.*188T>C (n.*188T>C)
c.1351T>C (p.Tyr451His)
c.1327T>C (p.Tyr443His)
c.1393T>C (p.Tyr465His)
c.910T>C (p.Tyr304His)
c.934T>C (p.Tyr312His)
5g.162153294T>GCA362183944GABRG2c.1355T>G
c.1450T>G (p.Tyr484Asp)
c.1413T>G
n.608T>G
c.1045T>G (p.Tyr349Asp)
c.1069T>G (p.Tyr357Asp)
c.*3951T>G (n.*3951T>G)
c.1231T>G
c.721T>G (p.Tyr241Asp)
c.1330T>G (p.Tyr444Asp)
c.1354T>G (p.Tyr452Asp)
c.2017T>G (n.2017T>G)
c.*1535T>G (n.*1535T>G)
c.*554T>G (n.*554T>G)
c.1288T>G (p.Tyr430Asp)
c.1264T>G (p.Tyr422Asp)
n.628T>G
n.6301T>G
c.792T>G
c.1267T>G (p.Tyr423Asp)
c.1423T>G (p.Tyr475Asp)
c.1474T>G (p.Tyr492Asp)
c.*932T>G (n.*932T>G)
c.1451T>G (n.1451T>G)
c.1345T>G (p.Tyr449Asp)
c.*188T>G (n.*188T>G)
c.1351T>G (p.Tyr451Asp)
c.1327T>G (p.Tyr443Asp)
c.1393T>G (p.Tyr465Asp)
c.910T>G (p.Tyr304Asp)
c.934T>G (p.Tyr312Asp)
5g.162153295A=CA1596382207GABRG2c.1356A=
c.1451A= (p.Tyr484=)
c.1414A=
n.609A=
c.1046A= (p.Tyr349=)
c.1070A= (p.Tyr357=)
c.*3952A= (n.*3952A=)
c.1232A=
c.722A= (p.Tyr241=)
c.1331A= (p.Tyr444=)
c.1355A= (p.Tyr452=)
c.2018A= (n.2018A=)
c.*1536A= (n.*1536A=)
c.*555A= (n.*555A=)
c.1289A= (p.Tyr430=)
c.1265A= (p.Tyr422=)
n.629A=
n.6302A=
c.793A=
c.1268A= (p.Tyr423=)
c.1424A= (p.Tyr475=)
c.1475A= (p.Tyr492=)
c.*933A= (n.*933A=)
c.1452A= (n.1452A=)
c.1346A= (p.Tyr449=)
c.*189A= (n.*189A=)
c.1352A= (p.Tyr451=)
c.1328A= (p.Tyr443=)
c.1394A= (p.Tyr465=)
c.911A= (p.Tyr304=)
c.935A= (p.Tyr312=)
5g.162153295A>CCA362183947GABRG2c.1356A>C
c.1451A>C (p.Tyr484Ser)
c.1414A>C
n.609A>C
c.1046A>C (p.Tyr349Ser)
c.1070A>C (p.Tyr357Ser)
c.*3952A>C (n.*3952A>C)
c.1232A>C
c.722A>C (p.Tyr241Ser)
c.1331A>C (p.Tyr444Ser)
c.1355A>C (p.Tyr452Ser)
c.2018A>C (n.2018A>C)
c.*1536A>C (n.*1536A>C)
c.*555A>C (n.*555A>C)
c.1289A>C (p.Tyr430Ser)
c.1265A>C (p.Tyr422Ser)
n.629A>C
n.6302A>C
c.793A>C
c.1268A>C (p.Tyr423Ser)
c.1424A>C (p.Tyr475Ser)
c.1475A>C (p.Tyr492Ser)
c.*933A>C (n.*933A>C)
c.1452A>C (n.1452A>C)
c.1346A>C (p.Tyr449Ser)
c.*189A>C (n.*189A>C)
c.1352A>C (p.Tyr451Ser)
c.1328A>C (p.Tyr443Ser)
c.1394A>C (p.Tyr465Ser)
c.911A>C (p.Tyr304Ser)
c.935A>C (p.Tyr312Ser)
5g.162153295A>GCA362183949GABRG2c.1356A>G
c.1451A>G (p.Tyr484Cys)
c.1414A>G
n.609A>G
c.1046A>G (p.Tyr349Cys)
c.1070A>G (p.Tyr357Cys)
c.*3952A>G (n.*3952A>G)
c.1232A>G
c.722A>G (p.Tyr241Cys)
c.1331A>G (p.Tyr444Cys)
c.1355A>G (p.Tyr452Cys)
c.2018A>G (n.2018A>G)
c.*1536A>G (n.*1536A>G)
c.*555A>G (n.*555A>G)
c.1289A>G (p.Tyr430Cys)
c.1265A>G (p.Tyr422Cys)
n.629A>G
n.6302A>G
c.793A>G
c.1268A>G (p.Tyr423Cys)
c.1424A>G (p.Tyr475Cys)
c.1475A>G (p.Tyr492Cys)
c.*933A>G (n.*933A>G)
c.1452A>G (n.1452A>G)
c.1346A>G (p.Tyr449Cys)
c.*189A>G (n.*189A>G)
c.1352A>G (p.Tyr451Cys)
c.1328A>G (p.Tyr443Cys)
c.1394A>G (p.Tyr465Cys)
c.911A>G (p.Tyr304Cys)
c.935A>G (p.Tyr312Cys)
 dbSNP gnomAD v4 COSMIC
5g.162153295A>TCA362183950GABRG2c.1356A>T
c.1451A>T (p.Tyr484Phe)
c.1414A>T
n.609A>T
c.1046A>T (p.Tyr349Phe)
c.1070A>T (p.Tyr357Phe)
c.*3952A>T (n.*3952A>T)
c.1232A>T
c.722A>T (p.Tyr241Phe)
c.1331A>T (p.Tyr444Phe)
c.1355A>T (p.Tyr452Phe)
c.2018A>T (n.2018A>T)
c.*1536A>T (n.*1536A>T)
c.*555A>T (n.*555A>T)
c.1289A>T (p.Tyr430Phe)
c.1265A>T (p.Tyr422Phe)
n.629A>T
n.6302A>T
c.793A>T
c.1268A>T (p.Tyr423Phe)
c.1424A>T (p.Tyr475Phe)
c.1475A>T (p.Tyr492Phe)
c.*933A>T (n.*933A>T)
c.1452A>T (n.1452A>T)
c.1346A>T (p.Tyr449Phe)
c.*189A>T (n.*189A>T)
c.1352A>T (p.Tyr451Phe)
c.1328A>T (p.Tyr443Phe)
c.1394A>T (p.Tyr465Phe)
c.911A>T (p.Tyr304Phe)
c.935A>T (p.Tyr312Phe)
5g.162153296T>ACA362183953GABRG2c.1357T>A
c.1452T>A (p.Tyr484Ter)
c.1415T>A
n.610T>A
c.1047T>A (p.Tyr349Ter)
c.1071T>A (p.Tyr357Ter)
c.*3953T>A (n.*3953T>A)
c.1233T>A
c.723T>A (p.Tyr241Ter)
c.1332T>A (p.Tyr444Ter)
c.1356T>A (p.Tyr452Ter)
c.2019T>A (n.2019T>A)
c.*1537T>A (n.*1537T>A)
c.*556T>A (n.*556T>A)
c.1290T>A (p.Tyr430Ter)
c.1266T>A (p.Tyr422Ter)
n.630T>A
n.6303T>A
c.794T>A
c.1269T>A (p.Tyr423Ter)
c.1425T>A (p.Tyr475Ter)
c.1476T>A (p.Tyr492Ter)
c.*934T>A (n.*934T>A)
c.1453T>A (n.1453T>A)
c.1347T>A (p.Tyr449Ter)
c.*190T>A (n.*190T>A)
c.1353T>A (p.Tyr451Ter)
c.1329T>A (p.Tyr443Ter)
c.1395T>A (p.Tyr465Ter)
c.912T>A (p.Tyr304Ter)
c.936T>A (p.Tyr312Ter)
5g.162153296T>CCA3544995GABRG2c.1357T>C
c.1452T>C (p.Tyr484=)
c.1415T>C
n.610T>C
c.1047T>C (p.Tyr349=)
c.1071T>C (p.Tyr357=)
c.*3953T>C (n.*3953T>C)
c.1233T>C
c.723T>C (p.Tyr241=)
c.1332T>C (p.Tyr444=)
c.1356T>C (p.Tyr452=)
c.2019T>C (n.2019T>C)
c.*1537T>C (n.*1537T>C)
c.*556T>C (n.*556T>C)
c.1290T>C (p.Tyr430=)
c.1266T>C (p.Tyr422=)
n.630T>C
n.6303T>C
c.794T>C
c.1269T>C (p.Tyr423=)
c.1425T>C (p.Tyr475=)
c.1476T>C (p.Tyr492=)
c.*934T>C (n.*934T>C)
c.1453T>C (n.1453T>C)
c.1347T>C (p.Tyr449=)
c.*190T>C (n.*190T>C)
c.1353T>C (p.Tyr451=)
c.1329T>C (p.Tyr443=)
c.1395T>C (p.Tyr465=)
c.912T>C (p.Tyr304=)
c.936T>C (p.Tyr312=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.162153296T>GCA362183956GABRG2c.1357T>G
c.1452T>G (p.Tyr484Ter)
c.1415T>G
n.610T>G
c.1047T>G (p.Tyr349Ter)
c.1071T>G (p.Tyr357Ter)
c.*3953T>G (n.*3953T>G)
c.1233T>G
c.723T>G (p.Tyr241Ter)
c.1332T>G (p.Tyr444Ter)
c.1356T>G (p.Tyr452Ter)
c.2019T>G (n.2019T>G)
c.*1537T>G (n.*1537T>G)
c.*556T>G (n.*556T>G)
c.1290T>G (p.Tyr430Ter)
c.1266T>G (p.Tyr422Ter)
n.630T>G
n.6303T>G
c.794T>G
c.1269T>G (p.Tyr423Ter)
c.1425T>G (p.Tyr475Ter)
c.1476T>G (p.Tyr492Ter)
c.*934T>G (n.*934T>G)
c.1453T>G (n.1453T>G)
c.1347T>G (p.Tyr449Ter)
c.*190T>G (n.*190T>G)
c.1353T>G (p.Tyr451Ter)
c.1329T>G (p.Tyr443Ter)
c.1395T>G (p.Tyr465Ter)
c.912T>G (p.Tyr304Ter)
c.936T>G (p.Tyr312Ter)
5g.162153296T=CA1596382211GABRG2c.1357T=
c.1452T= (p.Tyr484=)
c.1415T=
n.610T=
c.1047T= (p.Tyr349=)
c.1071T= (p.Tyr357=)
c.*3953T= (n.*3953T=)
c.1233T=
c.723T= (p.Tyr241=)
c.1332T= (p.Tyr444=)
c.1356T= (p.Tyr452=)
c.2019T= (n.2019T=)
c.*1537T= (n.*1537T=)
c.*556T= (n.*556T=)
c.1290T= (p.Tyr430=)
c.1266T= (p.Tyr422=)
n.630T=
n.6303T=
c.794T=
c.1269T= (p.Tyr423=)
c.1425T= (p.Tyr475=)
c.1476T= (p.Tyr492=)
c.*934T= (n.*934T=)
c.1453T= (n.1453T=)
c.1347T= (p.Tyr449=)
c.*190T= (n.*190T=)
c.1353T= (p.Tyr451=)
c.1329T= (p.Tyr443=)
c.1395T= (p.Tyr465=)
c.912T= (p.Tyr304=)
c.936T= (p.Tyr312=)
5g.162153297delCA2740094179GABRG2c.1358del
c.1453del (p.Ala485LeufsTer?)
c.1416del
n.611del
c.1048del (p.Ala350LeufsTer?)
c.1072del (p.Ala358LeufsTer?)
c.*3954del (n.*3954del)
c.1234del
c.724del (p.Ala242LeufsTer?)
c.1333del (p.Ala445LeufsTer?)
c.1357del (p.Ala453LeufsTer?)
c.2020del (n.2020del)
c.*1538del (n.*1538del)
c.*557del (n.*557del)
c.1291del (p.Ala431LeufsTer?)
c.1267del (p.Ala423LeufsTer?)
n.631del
n.6304del
c.795del
c.1270del (p.Ala424LeufsTer?)
c.1426del (p.Ala476LeufsTer?)
c.1477del (p.Ala493LeufsTer?)
c.*935del (n.*935del)
c.1454del (n.1454del)
c.1348del (p.Ala450LeufsTer?)
c.*191del (n.*191del)
c.1354del (p.Ala452LeufsTer?)
c.1330del (p.Ala444LeufsTer?)
c.1396del (p.Ala466LeufsTer?)
c.913del (p.Ala305LeufsTer?)
c.937del (p.Ala313LeufsTer?)
 ClinVar
5g.162153297G>ACA362183963GABRG2c.1358G>A
c.1453G>A (p.Ala485Thr)
c.1416G>A
n.611G>A
c.1048G>A (p.Ala350Thr)
c.1072G>A (p.Ala358Thr)
c.*3954G>A (n.*3954G>A)
c.1234G>A
c.724G>A (p.Ala242Thr)
c.1333G>A (p.Ala445Thr)
c.1357G>A (p.Ala453Thr)
c.2020G>A (n.2020G>A)
c.*1538G>A (n.*1538G>A)
c.*557G>A (n.*557G>A)
c.1291G>A (p.Ala431Thr)
c.1267G>A (p.Ala423Thr)
n.631G>A
n.6304G>A
c.795G>A
c.1270G>A (p.Ala424Thr)
c.1426G>A (p.Ala476Thr)
c.1477G>A (p.Ala493Thr)
c.*935G>A (n.*935G>A)
c.1454G>A (n.1454G>A)
c.1348G>A (p.Ala450Thr)
c.*191G>A (n.*191G>A)
c.1354G>A (p.Ala452Thr)
c.1330G>A (p.Ala444Thr)
c.1396G>A (p.Ala466Thr)
c.913G>A (p.Ala305Thr)
c.937G>A (p.Ala313Thr)
 COSMIC
5g.162153297G>CCA362183959GABRG2c.1358G>C
c.1453G>C (p.Ala485Pro)
c.1416G>C
n.611G>C
c.1048G>C (p.Ala350Pro)
c.1072G>C (p.Ala358Pro)
c.*3954G>C (n.*3954G>C)
c.1234G>C
c.724G>C (p.Ala242Pro)
c.1333G>C (p.Ala445Pro)
c.1357G>C (p.Ala453Pro)
c.2020G>C (n.2020G>C)
c.*1538G>C (n.*1538G>C)
c.*557G>C (n.*557G>C)
c.1291G>C (p.Ala431Pro)
c.1267G>C (p.Ala423Pro)
n.631G>C
n.6304G>C
c.795G>C
c.1270G>C (p.Ala424Pro)
c.1426G>C (p.Ala476Pro)
c.1477G>C (p.Ala493Pro)
c.*935G>C (n.*935G>C)
c.1454G>C (n.1454G>C)
c.1348G>C (p.Ala450Pro)
c.*191G>C (n.*191G>C)
c.1354G>C (p.Ala452Pro)
c.1330G>C (p.Ala444Pro)
c.1396G>C (p.Ala466Pro)
c.913G>C (p.Ala305Pro)
c.937G>C (p.Ala313Pro)
5g.162153297G>TCA362183961GABRG2c.1358G>T
c.1453G>T (p.Ala485Ser)
c.1416G>T
n.611G>T
c.1048G>T (p.Ala350Ser)
c.1072G>T (p.Ala358Ser)
c.*3954G>T (n.*3954G>T)
c.1234G>T
c.724G>T (p.Ala242Ser)
c.1333G>T (p.Ala445Ser)
c.1357G>T (p.Ala453Ser)
c.2020G>T (n.2020G>T)
c.*1538G>T (n.*1538G>T)
c.*557G>T (n.*557G>T)
c.1291G>T (p.Ala431Ser)
c.1267G>T (p.Ala423Ser)
n.631G>T
n.6304G>T
c.795G>T
c.1270G>T (p.Ala424Ser)
c.1426G>T (p.Ala476Ser)
c.1477G>T (p.Ala493Ser)
c.*935G>T (n.*935G>T)
c.1454G>T (n.1454G>T)
c.1348G>T (p.Ala450Ser)
c.*191G>T (n.*191G>T)
c.1354G>T (p.Ala452Ser)
c.1330G>T (p.Ala444Ser)
c.1396G>T (p.Ala466Ser)
c.913G>T (p.Ala305Ser)
c.937G>T (p.Ala313Ser)
 gnomAD v4
5g.162153298C>ACA362183965GABRG2c.1359C>A
c.1454C>A (p.Ala485Asp)
c.1417C>A
n.612C>A
c.1049C>A (p.Ala350Asp)
c.1073C>A (p.Ala358Asp)
c.*3955C>A (n.*3955C>A)
c.1235C>A
c.725C>A (p.Ala242Asp)
c.1334C>A (p.Ala445Asp)
c.1358C>A (p.Ala453Asp)
c.2021C>A (n.2021C>A)
c.*1539C>A (n.*1539C>A)
c.*558C>A (n.*558C>A)
c.1292C>A (p.Ala431Asp)
c.1268C>A (p.Ala423Asp)
n.632C>A
n.6305C>A
c.796C>A
c.1271C>A (p.Ala424Asp)
c.1427C>A (p.Ala476Asp)
c.1478C>A (p.Ala493Asp)
c.*936C>A (n.*936C>A)
c.1455C>A (n.1455C>A)
c.1349C>A (p.Ala450Asp)
c.*192C>A (n.*192C>A)
c.1355C>A (p.Ala452Asp)
c.1331C>A (p.Ala444Asp)
c.1397C>A (p.Ala466Asp)
c.914C>A (p.Ala305Asp)
c.938C>A (p.Ala313Asp)
 ClinVar
5g.162153298C>GCA362183969GABRG2c.1359C>G
c.1454C>G (p.Ala485Gly)
c.1417C>G
n.612C>G
c.1049C>G (p.Ala350Gly)
c.1073C>G (p.Ala358Gly)
c.*3955C>G (n.*3955C>G)
c.1235C>G
c.725C>G (p.Ala242Gly)
c.1334C>G (p.Ala445Gly)
c.1358C>G (p.Ala453Gly)
c.2021C>G (n.2021C>G)
c.*1539C>G (n.*1539C>G)
c.*558C>G (n.*558C>G)
c.1292C>G (p.Ala431Gly)
c.1268C>G (p.Ala423Gly)
n.632C>G
n.6305C>G
c.796C>G
c.1271C>G (p.Ala424Gly)
c.1427C>G (p.Ala476Gly)
c.1478C>G (p.Ala493Gly)
c.*936C>G (n.*936C>G)
c.1455C>G (n.1455C>G)
c.1349C>G (p.Ala450Gly)
c.*192C>G (n.*192C>G)
c.1355C>G (p.Ala452Gly)
c.1331C>G (p.Ala444Gly)
c.1397C>G (p.Ala466Gly)
c.914C>G (p.Ala305Gly)
c.938C>G (p.Ala313Gly)
5g.162153298C>TCA362183967GABRG2c.1359C>T
c.1454C>T (p.Ala485Val)
c.1417C>T
n.612C>T
c.1049C>T (p.Ala350Val)
c.1073C>T (p.Ala358Val)
c.*3955C>T (n.*3955C>T)
c.1235C>T
c.725C>T (p.Ala242Val)
c.1334C>T (p.Ala445Val)
c.1358C>T (p.Ala453Val)
c.2021C>T (n.2021C>T)
c.*1539C>T (n.*1539C>T)
c.*558C>T (n.*558C>T)
c.1292C>T (p.Ala431Val)
c.1268C>T (p.Ala423Val)
n.632C>T
n.6305C>T
c.796C>T
c.1271C>T (p.Ala424Val)
c.1427C>T (p.Ala476Val)
c.1478C>T (p.Ala493Val)
c.*936C>T (n.*936C>T)
c.1455C>T (n.1455C>T)
c.1349C>T (p.Ala450Val)
c.*192C>T (n.*192C>T)
c.1355C>T (p.Ala452Val)
c.1331C>T (p.Ala444Val)
c.1397C>T (p.Ala466Val)
c.914C>T (p.Ala305Val)
c.938C>T (p.Ala313Val)
 ClinVar dbSNP
5g.162153299T>ACA447691968GABRG2c.1360T>A
c.1455T>A (p.Ala485=)
c.1418T>A
n.613T>A
c.1050T>A (p.Ala350=)
c.1074T>A (p.Ala358=)
c.*3956T>A (n.*3956T>A)
c.1236T>A
c.726T>A (p.Ala242=)
c.1335T>A (p.Ala445=)
c.1359T>A (p.Ala453=)
c.2022T>A (n.2022T>A)
c.*1540T>A (n.*1540T>A)
c.*559T>A (n.*559T>A)
c.1293T>A (p.Ala431=)
c.1269T>A (p.Ala423=)
n.633T>A
n.6306T>A
c.797T>A
c.1272T>A (p.Ala424=)
c.1428T>A (p.Ala476=)
c.1479T>A (p.Ala493=)
c.*937T>A (n.*937T>A)
c.1456T>A (n.1456T>A)
c.1350T>A (p.Ala450=)
c.*193T>A (n.*193T>A)
c.1356T>A (p.Ala452=)
c.1332T>A (p.Ala444=)
c.1398T>A (p.Ala466=)
c.915T>A (p.Ala305=)
c.939T>A (p.Ala313=)
5g.162153299T>CCA447691969GABRG2c.1360T>C
c.1455T>C (p.Ala485=)
c.1418T>C
n.613T>C
c.1050T>C (p.Ala350=)
c.1074T>C (p.Ala358=)
c.*3956T>C (n.*3956T>C)
c.1236T>C
c.726T>C (p.Ala242=)
c.1335T>C (p.Ala445=)
c.1359T>C (p.Ala453=)
c.2022T>C (n.2022T>C)
c.*1540T>C (n.*1540T>C)
c.*559T>C (n.*559T>C)
c.1293T>C (p.Ala431=)
c.1269T>C (p.Ala423=)
n.633T>C
n.6306T>C
c.797T>C
c.1272T>C (p.Ala424=)
c.1428T>C (p.Ala476=)
c.1479T>C (p.Ala493=)
c.*937T>C (n.*937T>C)
c.1456T>C (n.1456T>C)
c.1350T>C (p.Ala450=)
c.*193T>C (n.*193T>C)
c.1356T>C (p.Ala452=)
c.1332T>C (p.Ala444=)
c.1398T>C (p.Ala466=)
c.915T>C (p.Ala305=)
c.939T>C (p.Ala313=)
5g.162153299T>GCA447691967GABRG2c.1360T>G
c.1455T>G (p.Ala485=)
c.1418T>G
n.613T>G
c.1050T>G (p.Ala350=)
c.1074T>G (p.Ala358=)
c.*3956T>G (n.*3956T>G)
c.1236T>G
c.726T>G (p.Ala242=)
c.1335T>G (p.Ala445=)
c.1359T>G (p.Ala453=)
c.2022T>G (n.2022T>G)
c.*1540T>G (n.*1540T>G)
c.*559T>G (n.*559T>G)
c.1293T>G (p.Ala431=)
c.1269T>G (p.Ala423=)
n.633T>G
n.6306T>G
c.797T>G
c.1272T>G (p.Ala424=)
c.1428T>G (p.Ala476=)
c.1479T>G (p.Ala493=)
c.*937T>G (n.*937T>G)
c.1456T>G (n.1456T>G)
c.1350T>G (p.Ala450=)
c.*193T>G (n.*193T>G)
c.1356T>G (p.Ala452=)
c.1332T>G (p.Ala444=)
c.1398T>G (p.Ala466=)
c.915T>G (p.Ala305=)
c.939T>G (p.Ala313=)
 ClinVar dbSNP
5g.162153299T=CA1596382215GABRG2c.1360T=
c.1455T= (p.Ala485=)
c.1418T=
n.613T=
c.1050T= (p.Ala350=)
c.1074T= (p.Ala358=)
c.*3956T= (n.*3956T=)
c.1236T=
c.726T= (p.Ala242=)
c.1335T= (p.Ala445=)
c.1359T= (p.Ala453=)
c.2022T= (n.2022T=)
c.*1540T= (n.*1540T=)
c.*559T= (n.*559T=)
c.1293T= (p.Ala431=)
c.1269T= (p.Ala423=)
n.633T=
n.6306T=
c.797T=
c.1272T= (p.Ala424=)
c.1428T= (p.Ala476=)
c.1479T= (p.Ala493=)
c.*937T= (n.*937T=)
c.1456T= (n.1456T=)
c.1350T= (p.Ala450=)
c.*193T= (n.*193T=)
c.1356T= (p.Ala452=)
c.1332T= (p.Ala444=)
c.1398T= (p.Ala466=)
c.915T= (p.Ala305=)
c.939T= (p.Ala313=)
5g.162153300C>ACA447691970GABRG2c.1361C>A
c.1456C>A (p.Arg486=)
c.1419C>A
n.614C>A
c.1051C>A (p.Arg351=)
c.1075C>A (p.Arg359=)
c.*3957C>A (n.*3957C>A)
c.1237C>A
c.727C>A (p.Arg243=)
c.1336C>A (p.Arg446=)
c.1360C>A (p.Arg454=)
c.2023C>A (n.2023C>A)
c.*1541C>A (n.*1541C>A)
c.*560C>A (n.*560C>A)
c.1294C>A (p.Arg432=)
c.1270C>A (p.Arg424=)
n.634C>A
n.6307C>A
c.798C>A
c.1273C>A (p.Arg425=)
c.1429C>A (p.Arg477=)
c.1480C>A (p.Arg494=)
c.*938C>A (n.*938C>A)
c.1457C>A (n.1457C>A)
c.1351C>A (p.Arg451=)
c.*194C>A (n.*194C>A)
c.1357C>A (p.Arg453=)
c.1333C>A (p.Arg445=)
c.1399C>A (p.Arg467=)
c.916C>A (p.Arg306=)
c.940C>A (p.Arg314=)
 COSMIC
5g.162153300C=CA1596382219GABRG2c.1361C=
c.1456C= (p.Arg486=)
c.1419C=
n.614C=
c.1051C= (p.Arg351=)
c.1075C= (p.Arg359=)
c.*3957C= (n.*3957C=)
c.1237C=
c.727C= (p.Arg243=)
c.1336C= (p.Arg446=)
c.1360C= (p.Arg454=)
c.2023C= (n.2023C=)
c.*1541C= (n.*1541C=)
c.*560C= (n.*560C=)
c.1294C= (p.Arg432=)
c.1270C= (p.Arg424=)
n.634C=
n.6307C=
c.798C=
c.1273C= (p.Arg425=)
c.1429C= (p.Arg477=)
c.1480C= (p.Arg494=)
c.*938C= (n.*938C=)
c.1457C= (n.1457C=)
c.1351C= (p.Arg451=)
c.*194C= (n.*194C=)
c.1357C= (p.Arg453=)
c.1333C= (p.Arg445=)
c.1399C= (p.Arg467=)
c.916C= (p.Arg306=)
c.940C= (p.Arg314=)
5g.162153300C>GCA362183971GABRG2c.1361C>G
c.1456C>G (p.Arg486Gly)
c.1419C>G
n.614C>G
c.1051C>G (p.Arg351Gly)
c.1075C>G (p.Arg359Gly)
c.*3957C>G (n.*3957C>G)
c.1237C>G
c.727C>G (p.Arg243Gly)
c.1336C>G (p.Arg446Gly)
c.1360C>G (p.Arg454Gly)
c.2023C>G (n.2023C>G)
c.*1541C>G (n.*1541C>G)
c.*560C>G (n.*560C>G)
c.1294C>G (p.Arg432Gly)
c.1270C>G (p.Arg424Gly)
n.634C>G
n.6307C>G
c.798C>G
c.1273C>G (p.Arg425Gly)
c.1429C>G (p.Arg477Gly)
c.1480C>G (p.Arg494Gly)
c.*938C>G (n.*938C>G)
c.1457C>G (n.1457C>G)
c.1351C>G (p.Arg451Gly)
c.*194C>G (n.*194C>G)
c.1357C>G (p.Arg453Gly)
c.1333C>G (p.Arg445Gly)
c.1399C>G (p.Arg467Gly)
c.916C>G (p.Arg306Gly)
c.940C>G (p.Arg314Gly)
 gnomAD v4
5g.162153300C>TCA314753GABRG2c.1361C>T
c.1456C>T (p.Arg486Trp)
c.1419C>T
n.614C>T
c.1051C>T (p.Arg351Trp)
c.1075C>T (p.Arg359Trp)
c.*3957C>T (n.*3957C>T)
c.1237C>T
c.727C>T (p.Arg243Trp)
c.1336C>T (p.Arg446Trp)
c.1360C>T (p.Arg454Trp)
c.2023C>T (n.2023C>T)
c.*1541C>T (n.*1541C>T)
c.*560C>T (n.*560C>T)
c.1294C>T (p.Arg432Trp)
c.1270C>T (p.Arg424Trp)
n.634C>T
n.6307C>T
c.798C>T
c.1273C>T (p.Arg425Trp)
c.1429C>T (p.Arg477Trp)
c.1480C>T (p.Arg494Trp)
c.*938C>T (n.*938C>T)
c.1457C>T (n.1457C>T)
c.1351C>T (p.Arg451Trp)
c.*194C>T (n.*194C>T)
c.1357C>T (p.Arg453Trp)
c.1333C>T (p.Arg445Trp)
c.1399C>T (p.Arg467Trp)
c.916C>T (p.Arg306Trp)
c.940C>T (p.Arg314Trp)
 ClinVar dbSNP gnomAD v4 COSMIC
5g.162153301G>ACA131117677GABRG2c.1362G>A
c.1457G>A (p.Arg486Gln)
c.1420G>A
n.615G>A
c.1052G>A (p.Arg351Gln)
c.1076G>A (p.Arg359Gln)
c.*3958G>A (n.*3958G>A)
c.1238G>A
c.728G>A (p.Arg243Gln)
c.1337G>A (p.Arg446Gln)
c.1361G>A (p.Arg454Gln)
c.2024G>A (n.2024G>A)
c.*1542G>A (n.*1542G>A)
c.*561G>A (n.*561G>A)
c.1295G>A (p.Arg432Gln)
c.1271G>A (p.Arg424Gln)
n.635G>A
n.6308G>A
c.799G>A
c.1274G>A (p.Arg425Gln)
c.1430G>A (p.Arg477Gln)
c.1481G>A (p.Arg494Gln)
c.*939G>A (n.*939G>A)
c.1458G>A (n.1458G>A)
c.1352G>A (p.Arg451Gln)
c.*195G>A (n.*195G>A)
c.1358G>A (p.Arg453Gln)
c.1334G>A (p.Arg445Gln)
c.1400G>A (p.Arg467Gln)
c.917G>A (p.Arg306Gln)
c.941G>A (p.Arg314Gln)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
5g.162153301G>CCA362183974GABRG2c.1362G>C
c.1457G>C (p.Arg486Pro)
c.1420G>C
n.615G>C
c.1052G>C (p.Arg351Pro)
c.1076G>C (p.Arg359Pro)
c.*3958G>C (n.*3958G>C)
c.1238G>C
c.728G>C (p.Arg243Pro)
c.1337G>C (p.Arg446Pro)
c.1361G>C (p.Arg454Pro)
c.2024G>C (n.2024G>C)
c.*1542G>C (n.*1542G>C)
c.*561G>C (n.*561G>C)
c.1295G>C (p.Arg432Pro)
c.1271G>C (p.Arg424Pro)
n.635G>C
n.6308G>C
c.799G>C
c.1274G>C (p.Arg425Pro)
c.1430G>C (p.Arg477Pro)
c.1481G>C (p.Arg494Pro)
c.*939G>C (n.*939G>C)
c.1458G>C (n.1458G>C)
c.1352G>C (p.Arg451Pro)
c.*195G>C (n.*195G>C)
c.1358G>C (p.Arg453Pro)
c.1334G>C (p.Arg445Pro)
c.1400G>C (p.Arg467Pro)
c.917G>C (p.Arg306Pro)
c.941G>C (p.Arg314Pro)
5g.162153301G=CA1596382225GABRG2c.1362G=
c.1457G= (p.Arg486=)
c.1420G=
n.615G=
c.1052G= (p.Arg351=)
c.1076G= (p.Arg359=)
c.*3958G= (n.*3958G=)
c.1238G=
c.728G= (p.Arg243=)
c.1337G= (p.Arg446=)
c.1361G= (p.Arg454=)
c.2024G= (n.2024G=)
c.*1542G= (n.*1542G=)
c.*561G= (n.*561G=)
c.1295G= (p.Arg432=)
c.1271G= (p.Arg424=)
n.635G=
n.6308G=
c.799G=
c.1274G= (p.Arg425=)
c.1430G= (p.Arg477=)
c.1481G= (p.Arg494=)
c.*939G= (n.*939G=)
c.1458G= (n.1458G=)
c.1352G= (p.Arg451=)
c.*195G= (n.*195G=)
c.1358G= (p.Arg453=)
c.1334G= (p.Arg445=)
c.1400G= (p.Arg467=)
c.917G= (p.Arg306=)
c.941G= (p.Arg314=)
5g.162153301G>TCA362183976GABRG2c.1362G>T
c.1457G>T (p.Arg486Leu)
c.1420G>T
n.615G>T
c.1052G>T (p.Arg351Leu)
c.1076G>T (p.Arg359Leu)
c.*3958G>T (n.*3958G>T)
c.1238G>T
c.728G>T (p.Arg243Leu)
c.1337G>T (p.Arg446Leu)
c.1361G>T (p.Arg454Leu)
c.2024G>T (n.2024G>T)
c.*1542G>T (n.*1542G>T)
c.*561G>T (n.*561G>T)
c.1295G>T (p.Arg432Leu)
c.1271G>T (p.Arg424Leu)
n.635G>T
n.6308G>T
c.799G>T
c.1274G>T (p.Arg425Leu)
c.1430G>T (p.Arg477Leu)
c.1481G>T (p.Arg494Leu)
c.*939G>T (n.*939G>T)
c.1458G>T (n.1458G>T)
c.1352G>T (p.Arg451Leu)
c.*195G>T (n.*195G>T)
c.1358G>T (p.Arg453Leu)
c.1334G>T (p.Arg445Leu)
c.1400G>T (p.Arg467Leu)
c.917G>T (p.Arg306Leu)
c.941G>T (p.Arg314Leu)
5g.162153302G>ACA447691973GABRG2c.1363G>A
c.1458G>A (p.Arg486=)
c.1421G>A
n.616G>A
c.1053G>A (p.Arg351=)
c.1077G>A (p.Arg359=)
c.*3959G>A (n.*3959G>A)
c.1239G>A
c.729G>A (p.Arg243=)
c.1338G>A (p.Arg446=)
c.1362G>A (p.Arg454=)
c.2025G>A (n.2025G>A)
c.*1543G>A (n.*1543G>A)
c.*562G>A (n.*562G>A)
c.1296G>A (p.Arg432=)
c.1272G>A (p.Arg424=)
n.636G>A
n.6309G>A
c.800G>A
c.1275G>A (p.Arg425=)
c.1431G>A (p.Arg477=)
c.1482G>A (p.Arg494=)
c.*940G>A (n.*940G>A)
c.1459G>A (n.1459G>A)
c.1353G>A (p.Arg451=)
c.*196G>A (n.*196G>A)
c.1359G>A (p.Arg453=)
c.1335G>A (p.Arg445=)
c.1401G>A (p.Arg467=)
c.918G>A (p.Arg306=)
c.942G>A (p.Arg314=)
5g.162153302G>CCA447691971GABRG2c.1363G>C
c.1458G>C (p.Arg486=)
c.1421G>C
n.616G>C
c.1053G>C (p.Arg351=)
c.1077G>C (p.Arg359=)
c.*3959G>C (n.*3959G>C)
c.1239G>C
c.729G>C (p.Arg243=)
c.1338G>C (p.Arg446=)
c.1362G>C (p.Arg454=)
c.2025G>C (n.2025G>C)
c.*1543G>C (n.*1543G>C)
c.*562G>C (n.*562G>C)
c.1296G>C (p.Arg432=)
c.1272G>C (p.Arg424=)
n.636G>C
n.6309G>C
c.800G>C
c.1275G>C (p.Arg425=)
c.1431G>C (p.Arg477=)
c.1482G>C (p.Arg494=)
c.*940G>C (n.*940G>C)
c.1459G>C (n.1459G>C)
c.1353G>C (p.Arg451=)
c.*196G>C (n.*196G>C)
c.1359G>C (p.Arg453=)
c.1335G>C (p.Arg445=)
c.1401G>C (p.Arg467=)
c.918G>C (p.Arg306=)
c.942G>C (p.Arg314=)
 ClinVar dbSNP gnomAD v4
5g.162153302G>TCA447691972GABRG2c.1363G>T
c.1458G>T (p.Arg486=)
c.1421G>T
n.616G>T
c.1053G>T (p.Arg351=)
c.1077G>T (p.Arg359=)
c.*3959G>T (n.*3959G>T)
c.1239G>T
c.729G>T (p.Arg243=)
c.1338G>T (p.Arg446=)
c.1362G>T (p.Arg454=)
c.2025G>T (n.2025G>T)
c.*1543G>T (n.*1543G>T)
c.*562G>T (n.*562G>T)
c.1296G>T (p.Arg432=)
c.1272G>T (p.Arg424=)
n.636G>T
n.6309G>T
c.800G>T
c.1275G>T (p.Arg425=)
c.1431G>T (p.Arg477=)
c.1482G>T (p.Arg494=)
c.*940G>T (n.*940G>T)
c.1459G>T (n.1459G>T)
c.1353G>T (p.Arg451=)
c.*196G>T (n.*196G>T)
c.1359G>T (p.Arg453=)
c.1335G>T (p.Arg445=)
c.1401G>T (p.Arg467=)
c.918G>T (p.Arg306=)
c.942G>T (p.Arg314=)
5g.162153303A>CCA362183978GABRG2c.1364A>C
c.1459A>C (p.Ile487Leu)
c.1422A>C
n.617A>C
c.1054A>C (p.Ile352Leu)
c.1078A>C (p.Ile360Leu)
c.*3960A>C (n.*3960A>C)
c.1240A>C
c.730A>C (p.Ile244Leu)
c.1339A>C (p.Ile447Leu)
c.1363A>C (p.Ile455Leu)
c.2026A>C (n.2026A>C)
c.*1544A>C (n.*1544A>C)
c.*563A>C (n.*563A>C)
c.1297A>C (p.Ile433Leu)
c.1273A>C (p.Ile425Leu)
n.637A>C
n.6310A>C
c.801A>C
c.1276A>C (p.Ile426Leu)
c.1432A>C (p.Ile478Leu)
c.1483A>C (p.Ile495Leu)
c.*941A>C (n.*941A>C)
c.1460A>C (n.1460A>C)
c.1354A>C (p.Ile452Leu)
c.*197A>C (n.*197A>C)
c.1360A>C (p.Ile454Leu)
c.1336A>C (p.Ile446Leu)
c.1402A>C (p.Ile468Leu)
c.919A>C (p.Ile307Leu)
c.943A>C (p.Ile315Leu)
5g.162153303A>GCA362183980GABRG2c.1364A>G
c.1459A>G (p.Ile487Val)
c.1422A>G
n.617A>G
c.1054A>G (p.Ile352Val)
c.1078A>G (p.Ile360Val)
c.*3960A>G (n.*3960A>G)
c.1240A>G
c.730A>G (p.Ile244Val)
c.1339A>G (p.Ile447Val)
c.1363A>G (p.Ile455Val)
c.2026A>G (n.2026A>G)
c.*1544A>G (n.*1544A>G)
c.*563A>G (n.*563A>G)
c.1297A>G (p.Ile433Val)
c.1273A>G (p.Ile425Val)
n.637A>G
n.6310A>G
c.801A>G
c.1276A>G (p.Ile426Val)
c.1432A>G (p.Ile478Val)
c.1483A>G (p.Ile495Val)
c.*941A>G (n.*941A>G)
c.1460A>G (n.1460A>G)
c.1354A>G (p.Ile452Val)
c.*197A>G (n.*197A>G)
c.1360A>G (p.Ile454Val)
c.1336A>G (p.Ile446Val)
c.1402A>G (p.Ile468Val)
c.919A>G (p.Ile307Val)
c.943A>G (p.Ile315Val)
5g.162153303A>TCA362183982GABRG2c.1364A>T
c.1459A>T (p.Ile487Phe)
c.1422A>T
n.617A>T
c.1054A>T (p.Ile352Phe)
c.1078A>T (p.Ile360Phe)
c.*3960A>T (n.*3960A>T)
c.1240A>T
c.730A>T (p.Ile244Phe)
c.1339A>T (p.Ile447Phe)
c.1363A>T (p.Ile455Phe)
c.2026A>T (n.2026A>T)
c.*1544A>T (n.*1544A>T)
c.*563A>T (n.*563A>T)
c.1297A>T (p.Ile433Phe)
c.1273A>T (p.Ile425Phe)
n.637A>T
n.6310A>T
c.801A>T
c.1276A>T (p.Ile426Phe)
c.1432A>T (p.Ile478Phe)
c.1483A>T (p.Ile495Phe)
c.*941A>T (n.*941A>T)
c.1460A>T (n.1460A>T)
c.1354A>T (p.Ile452Phe)
c.*197A>T (n.*197A>T)
c.1360A>T (p.Ile454Phe)
c.1336A>T (p.Ile446Phe)
c.1402A>T (p.Ile468Phe)
c.919A>T (p.Ile307Phe)
c.943A>T (p.Ile315Phe)
5g.162153304T>ACA362183984GABRG2c.1365T>A
c.1460T>A (p.Ile487Asn)
c.1423T>A
n.618T>A
c.1055T>A (p.Ile352Asn)
c.1079T>A (p.Ile360Asn)
c.*3961T>A (n.*3961T>A)
c.1241T>A
c.731T>A (p.Ile244Asn)
c.1340T>A (p.Ile447Asn)
c.1364T>A (p.Ile455Asn)
c.2027T>A (n.2027T>A)
c.*1545T>A (n.*1545T>A)
c.*564T>A (n.*564T>A)
c.1298T>A (p.Ile433Asn)
c.1274T>A (p.Ile425Asn)
n.638T>A
n.6311T>A
c.802T>A
c.1277T>A (p.Ile426Asn)
c.1433T>A (p.Ile478Asn)
c.1484T>A (p.Ile495Asn)
c.*942T>A (n.*942T>A)
c.1461T>A (n.1461T>A)
c.1355T>A (p.Ile452Asn)
c.*198T>A (n.*198T>A)
c.1361T>A (p.Ile454Asn)
c.1337T>A (p.Ile446Asn)
c.1403T>A (p.Ile468Asn)
c.920T>A (p.Ile307Asn)
c.944T>A (p.Ile315Asn)
5g.162153304T>CCA362183986GABRG2c.1365T>C
c.1460T>C (p.Ile487Thr)
c.1423T>C
n.618T>C
c.1055T>C (p.Ile352Thr)
c.1079T>C (p.Ile360Thr)
c.*3961T>C (n.*3961T>C)
c.1241T>C
c.731T>C (p.Ile244Thr)
c.1340T>C (p.Ile447Thr)
c.1364T>C (p.Ile455Thr)
c.2027T>C (n.2027T>C)
c.*1545T>C (n.*1545T>C)
c.*564T>C (n.*564T>C)
c.1298T>C (p.Ile433Thr)
c.1274T>C (p.Ile425Thr)
n.638T>C
n.6311T>C
c.802T>C
c.1277T>C (p.Ile426Thr)
c.1433T>C (p.Ile478Thr)
c.1484T>C (p.Ile495Thr)
c.*942T>C (n.*942T>C)
c.1461T>C (n.1461T>C)
c.1355T>C (p.Ile452Thr)
c.*198T>C (n.*198T>C)
c.1361T>C (p.Ile454Thr)
c.1337T>C (p.Ile446Thr)
c.1403T>C (p.Ile468Thr)
c.920T>C (p.Ile307Thr)
c.944T>C (p.Ile315Thr)
5g.162153304T>GCA362183988GABRG2c.1365T>G
c.1460T>G (p.Ile487Ser)
c.1423T>G
n.618T>G
c.1055T>G (p.Ile352Ser)
c.1079T>G (p.Ile360Ser)
c.*3961T>G (n.*3961T>G)
c.1241T>G
c.731T>G (p.Ile244Ser)
c.1340T>G (p.Ile447Ser)
c.1364T>G (p.Ile455Ser)
c.2027T>G (n.2027T>G)
c.*1545T>G (n.*1545T>G)
c.*564T>G (n.*564T>G)
c.1298T>G (p.Ile433Ser)
c.1274T>G (p.Ile425Ser)
n.638T>G
n.6311T>G
c.802T>G
c.1277T>G (p.Ile426Ser)
c.1433T>G (p.Ile478Ser)
c.1484T>G (p.Ile495Ser)
c.*942T>G (n.*942T>G)
c.1461T>G (n.1461T>G)
c.1355T>G (p.Ile452Ser)
c.*198T>G (n.*198T>G)
c.1361T>G (p.Ile454Ser)
c.1337T>G (p.Ile446Ser)
c.1403T>G (p.Ile468Ser)
c.920T>G (p.Ile307Ser)
c.944T>G (p.Ile315Ser)
5g.162153305C>ACA447691974GABRG2c.1366C>A
c.1461C>A (p.Ile487=)
c.1424C>A
n.619C>A
c.1056C>A (p.Ile352=)
c.1080C>A (p.Ile360=)
c.*3962C>A (n.*3962C>A)
c.1242C>A
c.732C>A (p.Ile244=)
c.1341C>A (p.Ile447=)
c.1365C>A (p.Ile455=)
c.2028C>A (n.2028C>A)
c.*1546C>A (n.*1546C>A)
c.*565C>A (n.*565C>A)
c.1299C>A (p.Ile433=)
c.1275C>A (p.Ile425=)
n.639C>A
n.6312C>A
c.803C>A
c.1278C>A (p.Ile426=)
c.1434C>A (p.Ile478=)
c.1485C>A (p.Ile495=)
c.*943C>A (n.*943C>A)
c.1462C>A (n.1462C>A)
c.1356C>A (p.Ile452=)
c.*199C>A (n.*199C>A)
c.1362C>A (p.Ile454=)
c.1338C>A (p.Ile446=)
c.1404C>A (p.Ile468=)
c.921C>A (p.Ile307=)
c.945C>A (p.Ile315=)
 ClinVar dbSNP gnomAD v4
5g.162153305C=CA1596382227GABRG2c.1366C=
c.1461C= (p.Ile487=)
c.1424C=
n.619C=
c.1056C= (p.Ile352=)
c.1080C= (p.Ile360=)
c.*3962C= (n.*3962C=)
c.1242C=
c.732C= (p.Ile244=)
c.1341C= (p.Ile447=)
c.1365C= (p.Ile455=)
c.2028C= (n.2028C=)
c.*1546C= (n.*1546C=)
c.*565C= (n.*565C=)
c.1299C= (p.Ile433=)
c.1275C= (p.Ile425=)
n.639C=
n.6312C=
c.803C=
c.1278C= (p.Ile426=)
c.1434C= (p.Ile478=)
c.1485C= (p.Ile495=)
c.*943C= (n.*943C=)
c.1462C= (n.1462C=)
c.1356C= (p.Ile452=)
c.*199C= (n.*199C=)
c.1362C= (p.Ile454=)
c.1338C= (p.Ile446=)
c.1404C= (p.Ile468=)
c.921C= (p.Ile307=)
c.945C= (p.Ile315=)
5g.162153305C>GCA362183990GABRG2c.1366C>G
c.1461C>G (p.Ile487Met)
c.1424C>G
n.619C>G
c.1056C>G (p.Ile352Met)
c.1080C>G (p.Ile360Met)
c.*3962C>G (n.*3962C>G)
c.1242C>G
c.732C>G (p.Ile244Met)
c.1341C>G (p.Ile447Met)
c.1365C>G (p.Ile455Met)
c.2028C>G (n.2028C>G)
c.*1546C>G (n.*1546C>G)
c.*565C>G (n.*565C>G)
c.1299C>G (p.Ile433Met)
c.1275C>G (p.Ile425Met)
n.639C>G
n.6312C>G
c.803C>G
c.1278C>G (p.Ile426Met)
c.1434C>G (p.Ile478Met)
c.1485C>G (p.Ile495Met)
c.*943C>G (n.*943C>G)
c.1462C>G (n.1462C>G)
c.1356C>G (p.Ile452Met)
c.*199C>G (n.*199C>G)
c.1362C>G (p.Ile454Met)
c.1338C>G (p.Ile446Met)
c.1404C>G (p.Ile468Met)
c.921C>G (p.Ile307Met)
c.945C>G (p.Ile315Met)
5g.162153305C>TCA447691975GABRG2c.1366C>T
c.1461C>T (p.Ile487=)
c.1424C>T
n.619C>T
c.1056C>T (p.Ile352=)
c.1080C>T (p.Ile360=)
c.*3962C>T (n.*3962C>T)
c.1242C>T
c.732C>T (p.Ile244=)
c.1341C>T (p.Ile447=)
c.1365C>T (p.Ile455=)
c.2028C>T (n.2028C>T)
c.*1546C>T (n.*1546C>T)
c.*565C>T (n.*565C>T)
c.1299C>T (p.Ile433=)
c.1275C>T (p.Ile425=)
n.639C>T
n.6312C>T
c.803C>T
c.1278C>T (p.Ile426=)
c.1434C>T (p.Ile478=)
c.1485C>T (p.Ile495=)
c.*943C>T (n.*943C>T)
c.1462C>T (n.1462C>T)
c.1356C>T (p.Ile452=)
c.*199C>T (n.*199C>T)
c.1362C>T (p.Ile454=)
c.1338C>T (p.Ile446=)
c.1404C>T (p.Ile468=)
c.921C>T (p.Ile307=)
c.945C>T (p.Ile315=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.162153306T>ACA362183997GABRG2c.1367T>A
c.1462T>A (p.Phe488Ile)
c.1425T>A
n.620T>A
c.1057T>A (p.Phe353Ile)
c.1081T>A (p.Phe361Ile)
c.*3963T>A (n.*3963T>A)
c.1243T>A
c.733T>A (p.Phe245Ile)
c.1342T>A (p.Phe448Ile)
c.1366T>A (p.Phe456Ile)
c.2029T>A (n.2029T>A)
c.*1547T>A (n.*1547T>A)
c.*566T>A (n.*566T>A)
c.1300T>A (p.Phe434Ile)
c.1276T>A (p.Phe426Ile)
n.640T>A
n.6313T>A
c.804T>A
c.1279T>A (p.Phe427Ile)
c.1435T>A (p.Phe479Ile)
c.1486T>A (p.Phe496Ile)
c.*944T>A (n.*944T>A)
c.1463T>A (n.1463T>A)
c.1357T>A (p.Phe453Ile)
c.*200T>A (n.*200T>A)
c.1363T>A (p.Phe455Ile)
c.1339T>A (p.Phe447Ile)
c.1405T>A (p.Phe469Ile)
c.922T>A (p.Phe308Ile)
c.946T>A (p.Phe316Ile)
5g.162153306T>CCA362183995GABRG2c.1367T>C
c.1462T>C (p.Phe488Leu)
c.1425T>C
n.620T>C
c.1057T>C (p.Phe353Leu)
c.1081T>C (p.Phe361Leu)
c.*3963T>C (n.*3963T>C)
c.1243T>C
c.733T>C (p.Phe245Leu)
c.1342T>C (p.Phe448Leu)
c.1366T>C (p.Phe456Leu)
c.2029T>C (n.2029T>C)
c.*1547T>C (n.*1547T>C)
c.*566T>C (n.*566T>C)
c.1300T>C (p.Phe434Leu)
c.1276T>C (p.Phe426Leu)
n.640T>C
n.6313T>C
c.804T>C
c.1279T>C (p.Phe427Leu)
c.1435T>C (p.Phe479Leu)
c.1486T>C (p.Phe496Leu)
c.*944T>C (n.*944T>C)
c.1463T>C (n.1463T>C)
c.1357T>C (p.Phe453Leu)
c.*200T>C (n.*200T>C)
c.1363T>C (p.Phe455Leu)
c.1339T>C (p.Phe447Leu)
c.1405T>C (p.Phe469Leu)
c.922T>C (p.Phe308Leu)
c.946T>C (p.Phe316Leu)
5g.162153306T>GCA362183993GABRG2c.1367T>G
c.1462T>G (p.Phe488Val)
c.1425T>G
n.620T>G
c.1057T>G (p.Phe353Val)
c.1081T>G (p.Phe361Val)
c.*3963T>G (n.*3963T>G)
c.1243T>G
c.733T>G (p.Phe245Val)
c.1342T>G (p.Phe448Val)
c.1366T>G (p.Phe456Val)
c.2029T>G (n.2029T>G)
c.*1547T>G (n.*1547T>G)
c.*566T>G (n.*566T>G)
c.1300T>G (p.Phe434Val)
c.1276T>G (p.Phe426Val)
n.640T>G
n.6313T>G
c.804T>G
c.1279T>G (p.Phe427Val)
c.1435T>G (p.Phe479Val)
c.1486T>G (p.Phe496Val)
c.*944T>G (n.*944T>G)
c.1463T>G (n.1463T>G)
c.1357T>G (p.Phe453Val)
c.*200T>G (n.*200T>G)
c.1363T>G (p.Phe455Val)
c.1339T>G (p.Phe447Val)
c.1405T>G (p.Phe469Val)
c.922T>G (p.Phe308Val)
c.946T>G (p.Phe316Val)
5g.162153307_162153310delCA2740094180GABRG2c.1368_1371del
c.1463_1466del (p.Phe488SerfsTer?)
c.1426_1429del
n.621_624del
c.1058_1061del (p.Phe353SerfsTer?)
c.1082_1085del (p.Phe361SerfsTer?)
c.*3964_*3967del (n.*3964_*3967del)
c.1244_1247del
c.734_737del (p.Phe245SerfsTer?)
c.1343_1346del (p.Phe448SerfsTer?)
c.1367_1370del (p.Phe456SerfsTer?)
c.2030_2033del (n.2030_2033del)
c.*1548_*1551del (n.*1548_*1551del)
c.*567_*570del (n.*567_*570del)
c.1301_1304del (p.Phe434SerfsTer?)
c.1277_1280del (p.Phe426SerfsTer?)
n.641_644del
n.6314_6317del
c.805_808del
c.1280_1283del (p.Phe427SerfsTer?)
c.1436_1439del (p.Phe479SerfsTer?)
c.1487_1490del (p.Phe496SerfsTer?)
c.*945_*948del (n.*945_*948del)
c.1464_1467del (n.1464_1467del)
c.1358_1361del (p.Phe453SerfsTer?)
c.*201_*204del (n.*201_*204del)
c.1364_1367del (p.Phe455SerfsTer?)
c.1340_1343del (p.Phe447SerfsTer?)
c.1406_1409del (p.Phe469SerfsTer?)
c.923_926del (p.Phe308SerfsTer?)
c.947_950del (p.Phe316SerfsTer?)
 ClinVar
5g.162153307T>ACA362183999GABRG2c.1368T>A
c.1463T>A (p.Phe488Tyr)
c.1426T>A
n.621T>A
c.1058T>A (p.Phe353Tyr)
c.1082T>A (p.Phe361Tyr)
c.*3964T>A (n.*3964T>A)
c.1244T>A
c.734T>A (p.Phe245Tyr)
c.1343T>A (p.Phe448Tyr)
c.1367T>A (p.Phe456Tyr)
c.2030T>A (n.2030T>A)
c.*1548T>A (n.*1548T>A)
c.*567T>A (n.*567T>A)
c.1301T>A (p.Phe434Tyr)
c.1277T>A (p.Phe426Tyr)
n.641T>A
n.6314T>A
c.805T>A
c.1280T>A (p.Phe427Tyr)
c.1436T>A (p.Phe479Tyr)
c.1487T>A (p.Phe496Tyr)
c.*945T>A (n.*945T>A)
c.1464T>A (n.1464T>A)
c.1358T>A (p.Phe453Tyr)
c.*201T>A (n.*201T>A)
c.1364T>A (p.Phe455Tyr)
c.1340T>A (p.Phe447Tyr)
c.1406T>A (p.Phe469Tyr)
c.923T>A (p.Phe308Tyr)
c.947T>A (p.Phe316Tyr)
5g.162153307T>CCA362184001GABRG2c.1368T>C
c.1463T>C (p.Phe488Ser)
c.1426T>C
n.621T>C
c.1058T>C (p.Phe353Ser)
c.1082T>C (p.Phe361Ser)
c.*3964T>C (n.*3964T>C)
c.1244T>C
c.734T>C (p.Phe245Ser)
c.1343T>C (p.Phe448Ser)
c.1367T>C (p.Phe456Ser)
c.2030T>C (n.2030T>C)
c.*1548T>C (n.*1548T>C)
c.*567T>C (n.*567T>C)
c.1301T>C (p.Phe434Ser)
c.1277T>C (p.Phe426Ser)
n.641T>C
n.6314T>C
c.805T>C
c.1280T>C (p.Phe427Ser)
c.1436T>C (p.Phe479Ser)
c.1487T>C (p.Phe496Ser)
c.*945T>C (n.*945T>C)
c.1464T>C (n.1464T>C)
c.1358T>C (p.Phe453Ser)
c.*201T>C (n.*201T>C)
c.1364T>C (p.Phe455Ser)
c.1340T>C (p.Phe447Ser)
c.1406T>C (p.Phe469Ser)
c.923T>C (p.Phe308Ser)
c.947T>C (p.Phe316Ser)
5g.162153307T>GCA362184003GABRG2c.1368T>G
c.1463T>G (p.Phe488Cys)
c.1426T>G
n.621T>G
c.1058T>G (p.Phe353Cys)
c.1082T>G (p.Phe361Cys)
c.*3964T>G (n.*3964T>G)
c.1244T>G
c.734T>G (p.Phe245Cys)
c.1343T>G (p.Phe448Cys)
c.1367T>G (p.Phe456Cys)
c.2030T>G (n.2030T>G)
c.*1548T>G (n.*1548T>G)
c.*567T>G (n.*567T>G)
c.1301T>G (p.Phe434Cys)
c.1277T>G (p.Phe426Cys)
n.641T>G
n.6314T>G
c.805T>G
c.1280T>G (p.Phe427Cys)
c.1436T>G (p.Phe479Cys)
c.1487T>G (p.Phe496Cys)
c.*945T>G (n.*945T>G)
c.1464T>G (n.1464T>G)
c.1358T>G (p.Phe453Cys)
c.*201T>G (n.*201T>G)
c.1364T>G (p.Phe455Cys)
c.1340T>G (p.Phe447Cys)
c.1406T>G (p.Phe469Cys)
c.923T>G (p.Phe308Cys)
c.947T>G (p.Phe316Cys)
5g.162153308C>ACA362184005GABRG2c.1369C>A
c.1464C>A (p.Phe488Leu)
c.1427C>A
n.622C>A
c.1059C>A (p.Phe353Leu)
c.1083C>A (p.Phe361Leu)
c.*3965C>A (n.*3965C>A)
c.1245C>A
c.735C>A (p.Phe245Leu)
c.1344C>A (p.Phe448Leu)
c.1368C>A (p.Phe456Leu)
c.2031C>A (n.2031C>A)
c.*1549C>A (n.*1549C>A)
c.*568C>A (n.*568C>A)
c.1302C>A (p.Phe434Leu)
c.1278C>A (p.Phe426Leu)
n.642C>A
n.6315C>A
c.806C>A
c.1281C>A (p.Phe427Leu)
c.1437C>A (p.Phe479Leu)
c.1488C>A (p.Phe496Leu)
c.*946C>A (n.*946C>A)
c.1465C>A (n.1465C>A)
c.1359C>A (p.Phe453Leu)
c.*202C>A (n.*202C>A)
c.1365C>A (p.Phe455Leu)
c.1341C>A (p.Phe447Leu)
c.1407C>A (p.Phe469Leu)
c.924C>A (p.Phe308Leu)
c.948C>A (p.Phe316Leu)
5g.162153308C>GCA362184006GABRG2c.1369C>G
c.1464C>G (p.Phe488Leu)
c.1427C>G
n.622C>G
c.1059C>G (p.Phe353Leu)
c.1083C>G (p.Phe361Leu)
c.*3965C>G (n.*3965C>G)
c.1245C>G
c.735C>G (p.Phe245Leu)
c.1344C>G (p.Phe448Leu)
c.1368C>G (p.Phe456Leu)
c.2031C>G (n.2031C>G)
c.*1549C>G (n.*1549C>G)
c.*568C>G (n.*568C>G)
c.1302C>G (p.Phe434Leu)
c.1278C>G (p.Phe426Leu)
n.642C>G
n.6315C>G
c.806C>G
c.1281C>G (p.Phe427Leu)
c.1437C>G (p.Phe479Leu)
c.1488C>G (p.Phe496Leu)
c.*946C>G (n.*946C>G)
c.1465C>G (n.1465C>G)
c.1359C>G (p.Phe453Leu)
c.*202C>G (n.*202C>G)
c.1365C>G (p.Phe455Leu)
c.1341C>G (p.Phe447Leu)
c.1407C>G (p.Phe469Leu)
c.924C>G (p.Phe308Leu)
c.948C>G (p.Phe316Leu)
5g.162153308C>TCA447691977GABRG2c.1369C>T
c.1464C>T (p.Phe488=)
c.1427C>T
n.622C>T
c.1059C>T (p.Phe353=)
c.1083C>T (p.Phe361=)
c.*3965C>T (n.*3965C>T)
c.1245C>T
c.735C>T (p.Phe245=)
c.1344C>T (p.Phe448=)
c.1368C>T (p.Phe456=)
c.2031C>T (n.2031C>T)
c.*1549C>T (n.*1549C>T)
c.*568C>T (n.*568C>T)
c.1302C>T (p.Phe434=)
c.1278C>T (p.Phe426=)
n.642C>T
n.6315C>T
c.806C>T
c.1281C>T (p.Phe427=)
c.1437C>T (p.Phe479=)
c.1488C>T (p.Phe496=)
c.*946C>T (n.*946C>T)
c.1465C>T (n.1465C>T)
c.1359C>T (p.Phe453=)
c.*202C>T (n.*202C>T)
c.1365C>T (p.Phe455=)
c.1341C>T (p.Phe447=)
c.1407C>T (p.Phe469=)
c.924C>T (p.Phe308=)
c.948C>T (p.Phe316=)
 COSMIC
5g.162153309T>ACA362184008GABRG2c.1370T>A
c.1465T>A (p.Phe489Ile)
c.1428T>A
n.623T>A
c.1060T>A (p.Phe354Ile)
c.1084T>A (p.Phe362Ile)
c.*3966T>A (n.*3966T>A)
c.1246T>A
c.736T>A (p.Phe246Ile)
c.1345T>A (p.Phe449Ile)
c.1369T>A (p.Phe457Ile)
c.2032T>A (n.2032T>A)
c.*1550T>A (n.*1550T>A)
c.*569T>A (n.*569T>A)
c.1303T>A (p.Phe435Ile)
c.1279T>A (p.Phe427Ile)
n.643T>A
n.6316T>A
c.807T>A
c.1282T>A (p.Phe428Ile)
c.1438T>A (p.Phe480Ile)
c.1489T>A (p.Phe497Ile)
c.*947T>A (n.*947T>A)
c.1466T>A (n.1466T>A)
c.1360T>A (p.Phe454Ile)
c.*203T>A (n.*203T>A)
c.1366T>A (p.Phe456Ile)
c.1342T>A (p.Phe448Ile)
c.1408T>A (p.Phe470Ile)
c.925T>A (p.Phe309Ile)
c.949T>A (p.Phe317Ile)
5g.162153309T>CCA362184010GABRG2c.1370T>C
c.1465T>C (p.Phe489Leu)
c.1428T>C
n.623T>C
c.1060T>C (p.Phe354Leu)
c.1084T>C (p.Phe362Leu)
c.*3966T>C (n.*3966T>C)
c.1246T>C
c.736T>C (p.Phe246Leu)
c.1345T>C (p.Phe449Leu)
c.1369T>C (p.Phe457Leu)
c.2032T>C (n.2032T>C)
c.*1550T>C (n.*1550T>C)
c.*569T>C (n.*569T>C)
c.1303T>C (p.Phe435Leu)
c.1279T>C (p.Phe427Leu)
n.643T>C
n.6316T>C
c.807T>C
c.1282T>C (p.Phe428Leu)
c.1438T>C (p.Phe480Leu)
c.1489T>C (p.Phe497Leu)
c.*947T>C (n.*947T>C)
c.1466T>C (n.1466T>C)
c.1360T>C (p.Phe454Leu)
c.*203T>C (n.*203T>C)
c.1366T>C (p.Phe456Leu)
c.1342T>C (p.Phe448Leu)
c.1408T>C (p.Phe470Leu)
c.925T>C (p.Phe309Leu)
c.949T>C (p.Phe317Leu)
5g.162153309T>GCA362184011GABRG2c.1370T>G
c.1465T>G (p.Phe489Val)
c.1428T>G
n.623T>G
c.1060T>G (p.Phe354Val)
c.1084T>G (p.Phe362Val)
c.*3966T>G (n.*3966T>G)
c.1246T>G
c.736T>G (p.Phe246Val)
c.1345T>G (p.Phe449Val)
c.1369T>G (p.Phe457Val)
c.2032T>G (n.2032T>G)
c.*1550T>G (n.*1550T>G)
c.*569T>G (n.*569T>G)
c.1303T>G (p.Phe435Val)
c.1279T>G (p.Phe427Val)
n.643T>G
n.6316T>G
c.807T>G
c.1282T>G (p.Phe428Val)
c.1438T>G (p.Phe480Val)
c.1489T>G (p.Phe497Val)
c.*947T>G (n.*947T>G)
c.1466T>G (n.1466T>G)
c.1360T>G (p.Phe454Val)
c.*203T>G (n.*203T>G)
c.1366T>G (p.Phe456Val)
c.1342T>G (p.Phe448Val)
c.1408T>G (p.Phe470Val)
c.925T>G (p.Phe309Val)
c.949T>G (p.Phe317Val)
5g.162153310T>ACA362184013GABRG2c.1371T>A
c.1466T>A (p.Phe489Tyr)
c.1429T>A
n.624T>A
c.1061T>A (p.Phe354Tyr)
c.1085T>A (p.Phe362Tyr)
c.*3967T>A (n.*3967T>A)
c.1247T>A
c.737T>A (p.Phe246Tyr)
c.1346T>A (p.Phe449Tyr)
c.1370T>A (p.Phe457Tyr)
c.2033T>A (n.2033T>A)
c.*1551T>A (n.*1551T>A)
c.*570T>A (n.*570T>A)
c.1304T>A (p.Phe435Tyr)
c.1280T>A (p.Phe427Tyr)
n.644T>A
n.6317T>A
c.808T>A
c.1283T>A (p.Phe428Tyr)
c.1439T>A (p.Phe480Tyr)
c.1490T>A (p.Phe497Tyr)
c.*948T>A (n.*948T>A)
c.1467T>A (n.1467T>A)
c.1361T>A (p.Phe454Tyr)
c.*204T>A (n.*204T>A)
c.1367T>A (p.Phe456Tyr)
c.1343T>A (p.Phe448Tyr)
c.1409T>A (p.Phe470Tyr)
c.926T>A (p.Phe309Tyr)
c.950T>A (p.Phe317Tyr)
5g.162153310T>CCA362184015GABRG2c.1371T>C
c.1466T>C (p.Phe489Ser)
c.1429T>C
n.624T>C
c.1061T>C (p.Phe354Ser)
c.1085T>C (p.Phe362Ser)
c.*3967T>C (n.*3967T>C)
c.1247T>C
c.737T>C (p.Phe246Ser)
c.1346T>C (p.Phe449Ser)
c.1370T>C (p.Phe457Ser)
c.2033T>C (n.2033T>C)
c.*1551T>C (n.*1551T>C)
c.*570T>C (n.*570T>C)
c.1304T>C (p.Phe435Ser)
c.1280T>C (p.Phe427Ser)
n.644T>C
n.6317T>C
c.808T>C
c.1283T>C (p.Phe428Ser)
c.1439T>C (p.Phe480Ser)
c.1490T>C (p.Phe497Ser)
c.*948T>C (n.*948T>C)
c.1467T>C (n.1467T>C)
c.1361T>C (p.Phe454Ser)
c.*204T>C (n.*204T>C)
c.1367T>C (p.Phe456Ser)
c.1343T>C (p.Phe448Ser)
c.1409T>C (p.Phe470Ser)
c.926T>C (p.Phe309Ser)
c.950T>C (p.Phe317Ser)
5g.162153310T>GCA362184017GABRG2c.1371T>G
c.1466T>G (p.Phe489Cys)
c.1429T>G
n.624T>G
c.1061T>G (p.Phe354Cys)
c.1085T>G (p.Phe362Cys)
c.*3967T>G (n.*3967T>G)
c.1247T>G
c.737T>G (p.Phe246Cys)
c.1346T>G (p.Phe449Cys)
c.1370T>G (p.Phe457Cys)
c.2033T>G (n.2033T>G)
c.*1551T>G (n.*1551T>G)
c.*570T>G (n.*570T>G)
c.1304T>G (p.Phe435Cys)
c.1280T>G (p.Phe427Cys)
n.644T>G
n.6317T>G
c.808T>G
c.1283T>G (p.Phe428Cys)
c.1439T>G (p.Phe480Cys)
c.1490T>G (p.Phe497Cys)
c.*948T>G (n.*948T>G)
c.1467T>G (n.1467T>G)
c.1361T>G (p.Phe454Cys)
c.*204T>G (n.*204T>G)
c.1367T>G (p.Phe456Cys)
c.1343T>G (p.Phe448Cys)
c.1409T>G (p.Phe470Cys)
c.926T>G (p.Phe309Cys)
c.950T>G (p.Phe317Cys)
5g.162153311C>ACA362184019GABRG2c.1372C>A
c.1467C>A (p.Phe489Leu)
c.1430C>A
n.625C>A
c.1062C>A (p.Phe354Leu)
c.1086C>A (p.Phe362Leu)
c.*3968C>A (n.*3968C>A)
c.1248C>A
c.738C>A (p.Phe246Leu)
c.1347C>A (p.Phe449Leu)
c.1371C>A (p.Phe457Leu)
c.2034C>A (n.2034C>A)
c.*1552C>A (n.*1552C>A)
c.*571C>A (n.*571C>A)
c.1305C>A (p.Phe435Leu)
c.1281C>A (p.Phe427Leu)
n.645C>A
n.6318C>A
c.809C>A
c.1284C>A (p.Phe428Leu)
c.1440C>A (p.Phe480Leu)
c.1491C>A (p.Phe497Leu)
c.*949C>A (n.*949C>A)
c.1468C>A (n.1468C>A)
c.1362C>A (p.Phe454Leu)
c.*205C>A (n.*205C>A)
c.1368C>A (p.Phe456Leu)
c.1344C>A (p.Phe448Leu)
c.1410C>A (p.Phe470Leu)
c.927C>A (p.Phe309Leu)
c.951C>A (p.Phe317Leu)
5g.162153311C=CA1596382230GABRG2c.1372C=
c.1467C= (p.Phe489=)
c.1430C=
n.625C=
c.1062C= (p.Phe354=)
c.1086C= (p.Phe362=)
c.*3968C= (n.*3968C=)
c.1248C=
c.738C= (p.Phe246=)
c.1347C= (p.Phe449=)
c.1371C= (p.Phe457=)
c.2034C= (n.2034C=)
c.*1552C= (n.*1552C=)
c.*571C= (n.*571C=)
c.1305C= (p.Phe435=)
c.1281C= (p.Phe427=)
n.645C=
n.6318C=
c.809C=
c.1284C= (p.Phe428=)
c.1440C= (p.Phe480=)
c.1491C= (p.Phe497=)
c.*949C= (n.*949C=)
c.1468C= (n.1468C=)
c.1362C= (p.Phe454=)
c.*205C= (n.*205C=)
c.1368C= (p.Phe456=)
c.1344C= (p.Phe448=)
c.1410C= (p.Phe470=)
c.927C= (p.Phe309=)
c.951C= (p.Phe317=)
5g.162153311C>GCA362184020GABRG2c.1372C>G
c.1467C>G (p.Phe489Leu)
c.1430C>G
n.625C>G
c.1062C>G (p.Phe354Leu)
c.1086C>G (p.Phe362Leu)
c.*3968C>G (n.*3968C>G)
c.1248C>G
c.738C>G (p.Phe246Leu)
c.1347C>G (p.Phe449Leu)
c.1371C>G (p.Phe457Leu)
c.2034C>G (n.2034C>G)
c.*1552C>G (n.*1552C>G)
c.*571C>G (n.*571C>G)
c.1305C>G (p.Phe435Leu)
c.1281C>G (p.Phe427Leu)
n.645C>G
n.6318C>G
c.809C>G
c.1284C>G (p.Phe428Leu)
c.1440C>G (p.Phe480Leu)
c.1491C>G (p.Phe497Leu)
c.*949C>G (n.*949C>G)
c.1468C>G (n.1468C>G)
c.1362C>G (p.Phe454Leu)
c.*205C>G (n.*205C>G)
c.1368C>G (p.Phe456Leu)
c.1344C>G (p.Phe448Leu)
c.1410C>G (p.Phe470Leu)
c.927C>G (p.Phe309Leu)
c.951C>G (p.Phe317Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.162153311C>TCA447691979GABRG2c.1372C>T
c.1467C>T (p.Phe489=)
c.1430C>T
n.625C>T
c.1062C>T (p.Phe354=)
c.1086C>T (p.Phe362=)
c.*3968C>T (n.*3968C>T)
c.1248C>T
c.738C>T (p.Phe246=)
c.1347C>T (p.Phe449=)
c.1371C>T (p.Phe457=)
c.2034C>T (n.2034C>T)
c.*1552C>T (n.*1552C>T)
c.*571C>T (n.*571C>T)
c.1305C>T (p.Phe435=)
c.1281C>T (p.Phe427=)
n.645C>T
n.6318C>T
c.809C>T
c.1284C>T (p.Phe428=)
c.1440C>T (p.Phe480=)
c.1491C>T (p.Phe497=)
c.*949C>T (n.*949C>T)
c.1468C>T (n.1468C>T)
c.1362C>T (p.Phe454=)
c.*205C>T (n.*205C>T)
c.1368C>T (p.Phe456=)
c.1344C>T (p.Phe448=)
c.1410C>T (p.Phe470=)
c.927C>T (p.Phe309=)
c.951C>T (p.Phe317=)
5g.162153314delCA2695205691GABRG2c.1375del
c.1470del (p.Thr491LeufsTer?)
c.1433del
n.628del
c.1065del (p.Thr356LeufsTer?)
c.1089del (p.Thr364LeufsTer?)
c.*3971del (n.*3971del)
c.1251del
c.741del (p.Thr248LeufsTer?)
c.1350del (p.Thr451LeufsTer?)
c.1374del (p.Thr459LeufsTer?)
c.2037del (n.2037del)
c.*1555del (n.*1555del)
c.*574del (n.*574del)
c.1308del (p.Thr437LeufsTer?)
c.1284del (p.Thr429LeufsTer?)
n.648del
n.6321del
c.812del
c.1287del (p.Thr430LeufsTer?)
c.1443del (p.Thr482LeufsTer?)
c.1494del (p.Thr499LeufsTer?)
c.*952del (n.*952del)
c.1471del (n.1471del)
c.1365del (p.Thr456LeufsTer?)
c.*208del (n.*208del)
c.1371del (p.Thr458LeufsTer?)
c.1347del (p.Thr450LeufsTer?)
c.1413del (p.Thr472LeufsTer?)
c.930del (p.Thr311LeufsTer?)
c.954del (p.Thr319LeufsTer?)
5g.162153312C>ACA362184024GABRG2c.1373C>A
c.1468C>A (p.Pro490Thr)
c.1431C>A
n.626C>A
c.1063C>A (p.Pro355Thr)
c.1087C>A (p.Pro363Thr)
c.*3969C>A (n.*3969C>A)
c.1249C>A
c.739C>A (p.Pro247Thr)
c.1348C>A (p.Pro450Thr)
c.1372C>A (p.Pro458Thr)
c.2035C>A (n.2035C>A)
c.*1553C>A (n.*1553C>A)
c.*572C>A (n.*572C>A)
c.1306C>A (p.Pro436Thr)
c.1282C>A (p.Pro428Thr)
n.646C>A
n.6319C>A
c.810C>A
c.1285C>A (p.Pro429Thr)
c.1441C>A (p.Pro481Thr)
c.1492C>A (p.Pro498Thr)
c.*950C>A (n.*950C>A)
c.1469C>A (n.1469C>A)
c.1363C>A (p.Pro455Thr)
c.*206C>A (n.*206C>A)
c.1369C>A (p.Pro457Thr)
c.1345C>A (p.Pro449Thr)
c.1411C>A (p.Pro471Thr)
c.928C>A (p.Pro310Thr)
c.952C>A (p.Pro318Thr)
5g.162153312C>GCA362184025GABRG2c.1373C>G
c.1468C>G (p.Pro490Ala)
c.1431C>G
n.626C>G
c.1063C>G (p.Pro355Ala)
c.1087C>G (p.Pro363Ala)
c.*3969C>G (n.*3969C>G)
c.1249C>G
c.739C>G (p.Pro247Ala)
c.1348C>G (p.Pro450Ala)
c.1372C>G (p.Pro458Ala)
c.2035C>G (n.2035C>G)
c.*1553C>G (n.*1553C>G)
c.*572C>G (n.*572C>G)
c.1306C>G (p.Pro436Ala)
c.1282C>G (p.Pro428Ala)
n.646C>G
n.6319C>G
c.810C>G
c.1285C>G (p.Pro429Ala)
c.1441C>G (p.Pro481Ala)
c.1492C>G (p.Pro498Ala)
c.*950C>G (n.*950C>G)
c.1469C>G (n.1469C>G)
c.1363C>G (p.Pro455Ala)
c.*206C>G (n.*206C>G)
c.1369C>G (p.Pro457Ala)
c.1345C>G (p.Pro449Ala)
c.1411C>G (p.Pro471Ala)
c.928C>G (p.Pro310Ala)
c.952C>G (p.Pro318Ala)
5g.162153312C>TCA362184022GABRG2c.1373C>T
c.1468C>T (p.Pro490Ser)
c.1431C>T
n.626C>T
c.1063C>T (p.Pro355Ser)
c.1087C>T (p.Pro363Ser)
c.*3969C>T (n.*3969C>T)
c.1249C>T
c.739C>T (p.Pro247Ser)
c.1348C>T (p.Pro450Ser)
c.1372C>T (p.Pro458Ser)
c.2035C>T (n.2035C>T)
c.*1553C>T (n.*1553C>T)
c.*572C>T (n.*572C>T)
c.1306C>T (p.Pro436Ser)
c.1282C>T (p.Pro428Ser)
n.646C>T
n.6319C>T
c.810C>T
c.1285C>T (p.Pro429Ser)
c.1441C>T (p.Pro481Ser)
c.1492C>T (p.Pro498Ser)
c.*950C>T (n.*950C>T)
c.1469C>T (n.1469C>T)
c.1363C>T (p.Pro455Ser)
c.*206C>T (n.*206C>T)
c.1369C>T (p.Pro457Ser)
c.1345C>T (p.Pro449Ser)
c.1411C>T (p.Pro471Ser)
c.928C>T (p.Pro310Ser)
c.952C>T (p.Pro318Ser)
 COSMIC
5g.162153313C>ACA362184027GABRG2c.1374C>A
c.1469C>A (p.Pro490His)
c.1432C>A
n.627C>A
c.1064C>A (p.Pro355His)
c.1088C>A (p.Pro363His)
c.*3970C>A (n.*3970C>A)
c.1250C>A
c.740C>A (p.Pro247His)
c.1349C>A (p.Pro450His)
c.1373C>A (p.Pro458His)
c.2036C>A (n.2036C>A)
c.*1554C>A (n.*1554C>A)
c.*573C>A (n.*573C>A)
c.1307C>A (p.Pro436His)
c.1283C>A (p.Pro428His)
n.647C>A
n.6320C>A
c.811C>A
c.1286C>A (p.Pro429His)
c.1442C>A (p.Pro481His)
c.1493C>A (p.Pro498His)
c.*951C>A (n.*951C>A)
c.1470C>A (n.1470C>A)
c.1364C>A (p.Pro455His)
c.*207C>A (n.*207C>A)
c.1370C>A (p.Pro457His)
c.1346C>A (p.Pro449His)
c.1412C>A (p.Pro471His)
c.929C>A (p.Pro310His)
c.953C>A (p.Pro318His)
5g.162153313C>GCA362184029GABRG2c.1374C>G
c.1469C>G (p.Pro490Arg)
c.1432C>G
n.627C>G
c.1064C>G (p.Pro355Arg)
c.1088C>G (p.Pro363Arg)
c.*3970C>G (n.*3970C>G)
c.1250C>G
c.740C>G (p.Pro247Arg)
c.1349C>G (p.Pro450Arg)
c.1373C>G (p.Pro458Arg)
c.2036C>G (n.2036C>G)
c.*1554C>G (n.*1554C>G)
c.*573C>G (n.*573C>G)
c.1307C>G (p.Pro436Arg)
c.1283C>G (p.Pro428Arg)
n.647C>G
n.6320C>G
c.811C>G
c.1286C>G (p.Pro429Arg)
c.1442C>G (p.Pro481Arg)
c.1493C>G (p.Pro498Arg)
c.*951C>G (n.*951C>G)
c.1470C>G (n.1470C>G)
c.1364C>G (p.Pro455Arg)
c.*207C>G (n.*207C>G)
c.1370C>G (p.Pro457Arg)
c.1346C>G (p.Pro449Arg)
c.1412C>G (p.Pro471Arg)
c.929C>G (p.Pro310Arg)
c.953C>G (p.Pro318Arg)
5g.162153313C>TCA362184030GABRG2c.1374C>T
c.1469C>T (p.Pro490Leu)
c.1432C>T
n.627C>T
c.1064C>T (p.Pro355Leu)
c.1088C>T (p.Pro363Leu)
c.*3970C>T (n.*3970C>T)
c.1250C>T
c.740C>T (p.Pro247Leu)
c.1349C>T (p.Pro450Leu)
c.1373C>T (p.Pro458Leu)
c.2036C>T (n.2036C>T)
c.*1554C>T (n.*1554C>T)
c.*573C>T (n.*573C>T)
c.1307C>T (p.Pro436Leu)
c.1283C>T (p.Pro428Leu)
n.647C>T
n.6320C>T
c.811C>T
c.1286C>T (p.Pro429Leu)
c.1442C>T (p.Pro481Leu)
c.1493C>T (p.Pro498Leu)
c.*951C>T (n.*951C>T)
c.1470C>T (n.1470C>T)
c.1364C>T (p.Pro455Leu)
c.*207C>T (n.*207C>T)
c.1370C>T (p.Pro457Leu)
c.1346C>T (p.Pro449Leu)
c.1412C>T (p.Pro471Leu)
c.929C>T (p.Pro310Leu)
c.953C>T (p.Pro318Leu)
5g.162153314C>ACA447691982GABRG2c.1375C>A
c.1470C>A (p.Pro490=)
c.1433C>A
n.628C>A
c.1065C>A (p.Pro355=)
c.1089C>A (p.Pro363=)
c.*3971C>A (n.*3971C>A)
c.1251C>A
c.741C>A (p.Pro247=)
c.1350C>A (p.Pro450=)
c.1374C>A (p.Pro458=)
c.2037C>A (n.2037C>A)
c.*1555C>A (n.*1555C>A)
c.*574C>A (n.*574C>A)
c.1308C>A (p.Pro436=)
c.1284C>A (p.Pro428=)
n.648C>A
n.6321C>A
c.812C>A
c.1287C>A (p.Pro429=)
c.1443C>A (p.Pro481=)
c.1494C>A (p.Pro498=)
c.*952C>A (n.*952C>A)
c.1471C>A (n.1471C>A)
c.1365C>A (p.Pro455=)
c.*208C>A (n.*208C>A)
c.1371C>A (p.Pro457=)
c.1347C>A (p.Pro449=)
c.1413C>A (p.Pro471=)
c.930C>A (p.Pro310=)
c.954C>A (p.Pro318=)
 gnomAD v4
5g.162153314C>GCA447691984GABRG2c.1375C>G
c.1470C>G (p.Pro490=)
c.1433C>G
n.628C>G
c.1065C>G (p.Pro355=)
c.1089C>G (p.Pro363=)
c.*3971C>G (n.*3971C>G)
c.1251C>G
c.741C>G (p.Pro247=)
c.1350C>G (p.Pro450=)
c.1374C>G (p.Pro458=)
c.2037C>G (n.2037C>G)
c.*1555C>G (n.*1555C>G)
c.*574C>G (n.*574C>G)
c.1308C>G (p.Pro436=)
c.1284C>G (p.Pro428=)
n.648C>G
n.6321C>G
c.812C>G
c.1287C>G (p.Pro429=)
c.1443C>G (p.Pro481=)
c.1494C>G (p.Pro498=)
c.*952C>G (n.*952C>G)
c.1471C>G (n.1471C>G)
c.1365C>G (p.Pro455=)
c.*208C>G (n.*208C>G)
c.1371C>G (p.Pro457=)
c.1347C>G (p.Pro449=)
c.1413C>G (p.Pro471=)
c.930C>G (p.Pro310=)
c.954C>G (p.Pro318=)
5g.162153314C>TCA447691985GABRG2c.1375C>T
c.1470C>T (p.Pro490=)
c.1433C>T
n.628C>T
c.1065C>T (p.Pro355=)
c.1089C>T (p.Pro363=)
c.*3971C>T (n.*3971C>T)
c.1251C>T
c.741C>T (p.Pro247=)
c.1350C>T (p.Pro450=)
c.1374C>T (p.Pro458=)
c.2037C>T (n.2037C>T)
c.*1555C>T (n.*1555C>T)
c.*574C>T (n.*574C>T)
c.1308C>T (p.Pro436=)
c.1284C>T (p.Pro428=)
n.648C>T
n.6321C>T
c.812C>T
c.1287C>T (p.Pro429=)
c.1443C>T (p.Pro481=)
c.1494C>T (p.Pro498=)
c.*952C>T (n.*952C>T)
c.1471C>T (n.1471C>T)
c.1365C>T (p.Pro455=)
c.*208C>T (n.*208C>T)
c.1371C>T (p.Pro457=)
c.1347C>T (p.Pro449=)
c.1413C>T (p.Pro471=)
c.930C>T (p.Pro310=)
c.954C>T (p.Pro318=)
5g.162153315A>CCA362184032GABRG2c.1376A>C
c.1471A>C (p.Thr491Pro)
c.1434A>C
n.629A>C
c.1066A>C (p.Thr356Pro)
c.1090A>C (p.Thr364Pro)
c.*3972A>C (n.*3972A>C)
c.1252A>C
c.742A>C (p.Thr248Pro)
c.1351A>C (p.Thr451Pro)
c.1375A>C (p.Thr459Pro)
c.2038A>C (n.2038A>C)
c.*1556A>C (n.*1556A>C)
c.*575A>C (n.*575A>C)
c.1309A>C (p.Thr437Pro)
c.1285A>C (p.Thr429Pro)
n.649A>C
n.6322A>C
c.813A>C
c.1288A>C (p.Thr430Pro)
c.1444A>C (p.Thr482Pro)
c.1495A>C (p.Thr499Pro)
c.*953A>C (n.*953A>C)
c.1472A>C (n.1472A>C)
c.1366A>C (p.Thr456Pro)
c.*209A>C (n.*209A>C)
c.1372A>C (p.Thr458Pro)
c.1348A>C (p.Thr450Pro)
c.1414A>C (p.Thr472Pro)
c.931A>C (p.Thr311Pro)
c.955A>C (p.Thr319Pro)
5g.162153315A>GCA362184035GABRG2c.1376A>G
c.1471A>G (p.Thr491Ala)
c.1434A>G
n.629A>G
c.1066A>G (p.Thr356Ala)
c.1090A>G (p.Thr364Ala)
c.*3972A>G (n.*3972A>G)
c.1252A>G
c.742A>G (p.Thr248Ala)
c.1351A>G (p.Thr451Ala)
c.1375A>G (p.Thr459Ala)
c.2038A>G (n.2038A>G)
c.*1556A>G (n.*1556A>G)
c.*575A>G (n.*575A>G)
c.1309A>G (p.Thr437Ala)
c.1285A>G (p.Thr429Ala)
n.649A>G
n.6322A>G
c.813A>G
c.1288A>G (p.Thr430Ala)
c.1444A>G (p.Thr482Ala)
c.1495A>G (p.Thr499Ala)
c.*953A>G (n.*953A>G)
c.1472A>G (n.1472A>G)
c.1366A>G (p.Thr456Ala)
c.*209A>G (n.*209A>G)
c.1372A>G (p.Thr458Ala)
c.1348A>G (p.Thr450Ala)
c.1414A>G (p.Thr472Ala)
c.931A>G (p.Thr311Ala)
c.955A>G (p.Thr319Ala)
5g.162153315A>TCA362184037GABRG2c.1376A>T
c.1471A>T (p.Thr491Ser)
c.1434A>T
n.629A>T
c.1066A>T (p.Thr356Ser)
c.1090A>T (p.Thr364Ser)
c.*3972A>T (n.*3972A>T)
c.1252A>T
c.742A>T (p.Thr248Ser)
c.1351A>T (p.Thr451Ser)
c.1375A>T (p.Thr459Ser)
c.2038A>T (n.2038A>T)
c.*1556A>T (n.*1556A>T)
c.*575A>T (n.*575A>T)
c.1309A>T (p.Thr437Ser)
c.1285A>T (p.Thr429Ser)
n.649A>T
n.6322A>T
c.813A>T
c.1288A>T (p.Thr430Ser)
c.1444A>T (p.Thr482Ser)
c.1495A>T (p.Thr499Ser)
c.*953A>T (n.*953A>T)
c.1472A>T (n.1472A>T)
c.1366A>T (p.Thr456Ser)
c.*209A>T (n.*209A>T)
c.1372A>T (p.Thr458Ser)
c.1348A>T (p.Thr450Ser)
c.1414A>T (p.Thr472Ser)
c.931A>T (p.Thr311Ser)
c.955A>T (p.Thr319Ser)
5g.162153316C>ACA362184039GABRG2c.1377C>A
c.1472C>A (p.Thr491Asn)
c.1435C>A
n.630C>A
c.1067C>A (p.Thr356Asn)
c.1091C>A (p.Thr364Asn)
c.*3973C>A (n.*3973C>A)
c.1253C>A
c.743C>A (p.Thr248Asn)
c.1352C>A (p.Thr451Asn)
c.1376C>A (p.Thr459Asn)
c.2039C>A (n.2039C>A)
c.*1557C>A (n.*1557C>A)
c.*576C>A (n.*576C>A)
c.1310C>A (p.Thr437Asn)
c.1286C>A (p.Thr429Asn)
n.650C>A
n.6323C>A
c.814C>A
c.1289C>A (p.Thr430Asn)
c.1445C>A (p.Thr482Asn)
c.1496C>A (p.Thr499Asn)
c.*954C>A (n.*954C>A)
c.1473C>A (n.1473C>A)
c.1367C>A (p.Thr456Asn)
c.*210C>A (n.*210C>A)
c.1373C>A (p.Thr458Asn)
c.1349C>A (p.Thr450Asn)
c.1415C>A (p.Thr472Asn)
c.932C>A (p.Thr311Asn)
c.956C>A (p.Thr319Asn)
5g.162153316C>GCA362184041GABRG2c.1377C>G
c.1472C>G (p.Thr491Ser)
c.1435C>G
n.630C>G
c.1067C>G (p.Thr356Ser)
c.1091C>G (p.Thr364Ser)
c.*3973C>G (n.*3973C>G)
c.1253C>G
c.743C>G (p.Thr248Ser)
c.1352C>G (p.Thr451Ser)
c.1376C>G (p.Thr459Ser)
c.2039C>G (n.2039C>G)
c.*1557C>G (n.*1557C>G)
c.*576C>G (n.*576C>G)
c.1310C>G (p.Thr437Ser)
c.1286C>G (p.Thr429Ser)
n.650C>G
n.6323C>G
c.814C>G
c.1289C>G (p.Thr430Ser)
c.1445C>G (p.Thr482Ser)
c.1496C>G (p.Thr499Ser)
c.*954C>G (n.*954C>G)
c.1473C>G (n.1473C>G)
c.1367C>G (p.Thr456Ser)
c.*210C>G (n.*210C>G)
c.1373C>G (p.Thr458Ser)
c.1349C>G (p.Thr450Ser)
c.1415C>G (p.Thr472Ser)
c.932C>G (p.Thr311Ser)
c.956C>G (p.Thr319Ser)
5g.162153316C>TCA362184043GABRG2c.1377C>T
c.1472C>T (p.Thr491Ile)
c.1435C>T
n.630C>T
c.1067C>T (p.Thr356Ile)
c.1091C>T (p.Thr364Ile)
c.*3973C>T (n.*3973C>T)
c.1253C>T
c.743C>T (p.Thr248Ile)
c.1352C>T (p.Thr451Ile)
c.1376C>T (p.Thr459Ile)
c.2039C>T (n.2039C>T)
c.*1557C>T (n.*1557C>T)
c.*576C>T (n.*576C>T)
c.1310C>T (p.Thr437Ile)
c.1286C>T (p.Thr429Ile)
n.650C>T
n.6323C>T
c.814C>T
c.1289C>T (p.Thr430Ile)
c.1445C>T (p.Thr482Ile)
c.1496C>T (p.Thr499Ile)
c.*954C>T (n.*954C>T)
c.1473C>T (n.1473C>T)
c.1367C>T (p.Thr456Ile)
c.*210C>T (n.*210C>T)
c.1373C>T (p.Thr458Ile)
c.1349C>T (p.Thr450Ile)
c.1415C>T (p.Thr472Ile)
c.932C>T (p.Thr311Ile)
c.956C>T (p.Thr319Ile)
5g.162153317T>ACA447691989GABRG2c.1378T>A
c.1473T>A (p.Thr491=)
c.1436T>A
n.631T>A
c.1068T>A (p.Thr356=)
c.1092T>A (p.Thr364=)
c.*3974T>A (n.*3974T>A)
c.1254T>A
c.744T>A (p.Thr248=)
c.1353T>A (p.Thr451=)
c.1377T>A (p.Thr459=)
c.2040T>A (n.2040T>A)
c.*1558T>A (n.*1558T>A)
c.*577T>A (n.*577T>A)
c.1311T>A (p.Thr437=)
c.1287T>A (p.Thr429=)
n.651T>A
n.6324T>A
c.815T>A
c.1290T>A (p.Thr430=)
c.1446T>A (p.Thr482=)
c.1497T>A (p.Thr499=)
c.*955T>A (n.*955T>A)
c.1474T>A (n.1474T>A)
c.1368T>A (p.Thr456=)
c.*211T>A (n.*211T>A)
c.1374T>A (p.Thr458=)
c.1350T>A (p.Thr450=)
c.1416T>A (p.Thr472=)
c.933T>A (p.Thr311=)
c.957T>A (p.Thr319=)
 dbSNP gnomAD v2 gnomAD v4
5g.162153317T>CCA447691990GABRG2c.1378T>C
c.1473T>C (p.Thr491=)
c.1436T>C
n.631T>C
c.1068T>C (p.Thr356=)
c.1092T>C (p.Thr364=)
c.*3974T>C (n.*3974T>C)
c.1254T>C
c.744T>C (p.Thr248=)
c.1353T>C (p.Thr451=)
c.1377T>C (p.Thr459=)
c.2040T>C (n.2040T>C)
c.*1558T>C (n.*1558T>C)
c.*577T>C (n.*577T>C)
c.1311T>C (p.Thr437=)
c.1287T>C (p.Thr429=)
n.651T>C
n.6324T>C
c.815T>C
c.1290T>C (p.Thr430=)
c.1446T>C (p.Thr482=)
c.1497T>C (p.Thr499=)
c.*955T>C (n.*955T>C)
c.1474T>C (n.1474T>C)
c.1368T>C (p.Thr456=)
c.*211T>C (n.*211T>C)
c.1374T>C (p.Thr458=)
c.1350T>C (p.Thr450=)
c.1416T>C (p.Thr472=)
c.933T>C (p.Thr311=)
c.957T>C (p.Thr319=)
 gnomAD v4
5g.162153317T>GCA447691991GABRG2c.1378T>G
c.1473T>G (p.Thr491=)
c.1436T>G
n.631T>G
c.1068T>G (p.Thr356=)
c.1092T>G (p.Thr364=)
c.*3974T>G (n.*3974T>G)
c.1254T>G
c.744T>G (p.Thr248=)
c.1353T>G (p.Thr451=)
c.1377T>G (p.Thr459=)
c.2040T>G (n.2040T>G)
c.*1558T>G (n.*1558T>G)
c.*577T>G (n.*577T>G)
c.1311T>G (p.Thr437=)
c.1287T>G (p.Thr429=)
n.651T>G
n.6324T>G
c.815T>G
c.1290T>G (p.Thr430=)
c.1446T>G (p.Thr482=)
c.1497T>G (p.Thr499=)
c.*955T>G (n.*955T>G)
c.1474T>G (n.1474T>G)
c.1368T>G (p.Thr456=)
c.*211T>G (n.*211T>G)
c.1374T>G (p.Thr458=)
c.1350T>G (p.Thr450=)
c.1416T>G (p.Thr472=)
c.933T>G (p.Thr311=)
c.957T>G (p.Thr319=)
5g.162153317T=CA1596382233GABRG2c.1378T=
c.1473T= (p.Thr491=)
c.1436T=
n.631T=
c.1068T= (p.Thr356=)
c.1092T= (p.Thr364=)
c.*3974T= (n.*3974T=)
c.1254T=
c.744T= (p.Thr248=)
c.1353T= (p.Thr451=)
c.1377T= (p.Thr459=)
c.2040T= (n.2040T=)
c.*1558T= (n.*1558T=)
c.*577T= (n.*577T=)
c.1311T= (p.Thr437=)
c.1287T= (p.Thr429=)
n.651T=
n.6324T=
c.815T=
c.1290T= (p.Thr430=)
c.1446T= (p.Thr482=)
c.1497T= (p.Thr499=)
c.*955T= (n.*955T=)
c.1474T= (n.1474T=)
c.1368T= (p.Thr456=)
c.*211T= (n.*211T=)
c.1374T= (p.Thr458=)
c.1350T= (p.Thr450=)
c.1416T= (p.Thr472=)
c.933T= (p.Thr311=)
c.957T= (p.Thr319=)
5g.162153318G>ACA362184045GABRG2c.1379G>A
c.1474G>A (p.Ala492Thr)
c.1437G>A
n.632G>A
c.1069G>A (p.Ala357Thr)
c.1093G>A (p.Ala365Thr)
c.*3975G>A (n.*3975G>A)
c.1255G>A
c.745G>A (p.Ala249Thr)
c.1354G>A (p.Ala452Thr)
c.1378G>A (p.Ala460Thr)
c.2041G>A (n.2041G>A)
c.*1559G>A (n.*1559G>A)
c.*578G>A (n.*578G>A)
c.1312G>A (p.Ala438Thr)
c.1288G>A (p.Ala430Thr)
n.652G>A
n.6325G>A
c.816G>A
c.1291G>A (p.Ala431Thr)
c.1447G>A (p.Ala483Thr)
c.1498G>A (p.Ala500Thr)
c.*956G>A (n.*956G>A)
c.1475G>A (n.1475G>A)
c.1369G>A (p.Ala457Thr)
c.*212G>A (n.*212G>A)
c.1375G>A (p.Ala459Thr)
c.1351G>A (p.Ala451Thr)
c.1417G>A (p.Ala473Thr)
c.934G>A (p.Ala312Thr)
c.958G>A (p.Ala320Thr)
5g.162153318G>CCA362184047GABRG2c.1379G>C
c.1474G>C (p.Ala492Pro)
c.1437G>C
n.632G>C
c.1069G>C (p.Ala357Pro)
c.1093G>C (p.Ala365Pro)
c.*3975G>C (n.*3975G>C)
c.1255G>C
c.745G>C (p.Ala249Pro)
c.1354G>C (p.Ala452Pro)
c.1378G>C (p.Ala460Pro)
c.2041G>C (n.2041G>C)
c.*1559G>C (n.*1559G>C)
c.*578G>C (n.*578G>C)
c.1312G>C (p.Ala438Pro)
c.1288G>C (p.Ala430Pro)
n.652G>C
n.6325G>C
c.816G>C
c.1291G>C (p.Ala431Pro)
c.1447G>C (p.Ala483Pro)
c.1498G>C (p.Ala500Pro)
c.*956G>C (n.*956G>C)
c.1475G>C (n.1475G>C)
c.1369G>C (p.Ala457Pro)
c.*212G>C (n.*212G>C)
c.1375G>C (p.Ala459Pro)
c.1351G>C (p.Ala451Pro)
c.1417G>C (p.Ala473Pro)
c.934G>C (p.Ala312Pro)
c.958G>C (p.Ala320Pro)
5g.162153318G>TCA362184049GABRG2c.1379G>T
c.1474G>T (p.Ala492Ser)
c.1437G>T
n.632G>T
c.1069G>T (p.Ala357Ser)
c.1093G>T (p.Ala365Ser)
c.*3975G>T (n.*3975G>T)
c.1255G>T
c.745G>T (p.Ala249Ser)
c.1354G>T (p.Ala452Ser)
c.1378G>T (p.Ala460Ser)
c.2041G>T (n.2041G>T)
c.*1559G>T (n.*1559G>T)
c.*578G>T (n.*578G>T)
c.1312G>T (p.Ala438Ser)
c.1288G>T (p.Ala430Ser)
n.652G>T
n.6325G>T
c.816G>T
c.1291G>T (p.Ala431Ser)
c.1447G>T (p.Ala483Ser)
c.1498G>T (p.Ala500Ser)
c.*956G>T (n.*956G>T)
c.1475G>T (n.1475G>T)
c.1369G>T (p.Ala457Ser)
c.*212G>T (n.*212G>T)
c.1375G>T (p.Ala459Ser)
c.1351G>T (p.Ala451Ser)
c.1417G>T (p.Ala473Ser)
c.934G>T (p.Ala312Ser)
c.958G>T (p.Ala320Ser)
5g.162153319C>ACA362184056GABRG2c.1380C>A
c.1475C>A (p.Ala492Asp)
c.1438C>A
n.633C>A
c.1070C>A (p.Ala357Asp)
c.1094C>A (p.Ala365Asp)
c.*3976C>A (n.*3976C>A)
c.1256C>A
c.746C>A (p.Ala249Asp)
c.1355C>A (p.Ala452Asp)
c.1379C>A (p.Ala460Asp)
c.2042C>A (n.2042C>A)
c.*1560C>A (n.*1560C>A)
c.*579C>A (n.*579C>A)
c.1313C>A (p.Ala438Asp)
c.1289C>A (p.Ala430Asp)
n.653C>A
n.6326C>A
c.817C>A
c.1292C>A (p.Ala431Asp)
c.1448C>A (p.Ala483Asp)
c.1499C>A (p.Ala500Asp)
c.*957C>A (n.*957C>A)
c.1476C>A (n.1476C>A)
c.1370C>A (p.Ala457Asp)
c.*213C>A (n.*213C>A)
c.1376C>A (p.Ala459Asp)
c.1352C>A (p.Ala451Asp)
c.1418C>A (p.Ala473Asp)
c.935C>A (p.Ala312Asp)
c.959C>A (p.Ala320Asp)
5g.162153319C>GCA362184051GABRG2c.1380C>G
c.1475C>G (p.Ala492Gly)
c.1438C>G
n.633C>G
c.1070C>G (p.Ala357Gly)
c.1094C>G (p.Ala365Gly)
c.*3976C>G (n.*3976C>G)
c.1256C>G
c.746C>G (p.Ala249Gly)
c.1355C>G (p.Ala452Gly)
c.1379C>G (p.Ala460Gly)
c.2042C>G (n.2042C>G)
c.*1560C>G (n.*1560C>G)
c.*579C>G (n.*579C>G)
c.1313C>G (p.Ala438Gly)
c.1289C>G (p.Ala430Gly)
n.653C>G
n.6326C>G
c.817C>G
c.1292C>G (p.Ala431Gly)
c.1448C>G (p.Ala483Gly)
c.1499C>G (p.Ala500Gly)
c.*957C>G (n.*957C>G)
c.1476C>G (n.1476C>G)
c.1370C>G (p.Ala457Gly)
c.*213C>G (n.*213C>G)
c.1376C>G (p.Ala459Gly)
c.1352C>G (p.Ala451Gly)
c.1418C>G (p.Ala473Gly)
c.935C>G (p.Ala312Gly)
c.959C>G (p.Ala320Gly)
5g.162153319C>TCA362184054GABRG2c.1380C>T
c.1475C>T (p.Ala492Val)
c.1438C>T
n.633C>T
c.1070C>T (p.Ala357Val)
c.1094C>T (p.Ala365Val)
c.*3976C>T (n.*3976C>T)
c.1256C>T
c.746C>T (p.Ala249Val)
c.1355C>T (p.Ala452Val)
c.1379C>T (p.Ala460Val)
c.2042C>T (n.2042C>T)
c.*1560C>T (n.*1560C>T)
c.*579C>T (n.*579C>T)
c.1313C>T (p.Ala438Val)
c.1289C>T (p.Ala430Val)
n.653C>T
n.6326C>T
c.817C>T
c.1292C>T (p.Ala431Val)
c.1448C>T (p.Ala483Val)
c.1499C>T (p.Ala500Val)
c.*957C>T (n.*957C>T)
c.1476C>T (n.1476C>T)
c.1370C>T (p.Ala457Val)
c.*213C>T (n.*213C>T)
c.1376C>T (p.Ala459Val)
c.1352C>T (p.Ala451Val)
c.1418C>T (p.Ala473Val)
c.935C>T (p.Ala312Val)
c.959C>T (p.Ala320Val)
5g.162153320C>ACA447691994GABRG2c.1381C>A
c.1476C>A (p.Ala492=)
c.1439C>A
n.634C>A
c.1071C>A (p.Ala357=)
c.1095C>A (p.Ala365=)
c.*3977C>A (n.*3977C>A)
c.1257C>A
c.747C>A (p.Ala249=)
c.1356C>A (p.Ala452=)
c.1380C>A (p.Ala460=)
c.2043C>A (n.2043C>A)
c.*1561C>A (n.*1561C>A)
c.*580C>A (n.*580C>A)
c.1314C>A (p.Ala438=)
c.1290C>A (p.Ala430=)
n.654C>A
n.6327C>A
c.818C>A
c.1293C>A (p.Ala431=)
c.1449C>A (p.Ala483=)
c.1500C>A (p.Ala500=)
c.*958C>A (n.*958C>A)
c.1477C>A (n.1477C>A)
c.1371C>A (p.Ala457=)
c.*214C>A (n.*214C>A)
c.1377C>A (p.Ala459=)
c.1353C>A (p.Ala451=)
c.1419C>A (p.Ala473=)
c.936C>A (p.Ala312=)
c.960C>A (p.Ala320=)
5g.162153320C=CA1596382236GABRG2c.1381C=
c.1476C= (p.Ala492=)
c.1439C=
n.634C=
c.1071C= (p.Ala357=)
c.1095C= (p.Ala365=)
c.*3977C= (n.*3977C=)
c.1257C=
c.747C= (p.Ala249=)
c.1356C= (p.Ala452=)
c.1380C= (p.Ala460=)
c.2043C= (n.2043C=)
c.*1561C= (n.*1561C=)
c.*580C= (n.*580C=)
c.1314C= (p.Ala438=)
c.1290C= (p.Ala430=)
n.654C=
n.6327C=
c.818C=
c.1293C= (p.Ala431=)
c.1449C= (p.Ala483=)
c.1500C= (p.Ala500=)
c.*958C= (n.*958C=)
c.1477C= (n.1477C=)
c.1371C= (p.Ala457=)
c.*214C= (n.*214C=)
c.1377C= (p.Ala459=)
c.1353C= (p.Ala451=)
c.1419C= (p.Ala473=)
c.936C= (p.Ala312=)
c.960C= (p.Ala320=)
5g.162153320C>GCA447691996GABRG2c.1381C>G
c.1476C>G (p.Ala492=)
c.1439C>G
n.634C>G
c.1071C>G (p.Ala357=)
c.1095C>G (p.Ala365=)
c.*3977C>G (n.*3977C>G)
c.1257C>G
c.747C>G (p.Ala249=)
c.1356C>G (p.Ala452=)
c.1380C>G (p.Ala460=)
c.2043C>G (n.2043C>G)
c.*1561C>G (n.*1561C>G)
c.*580C>G (n.*580C>G)
c.1314C>G (p.Ala438=)
c.1290C>G (p.Ala430=)
n.654C>G
n.6327C>G
c.818C>G
c.1293C>G (p.Ala431=)
c.1449C>G (p.Ala483=)
c.1500C>G (p.Ala500=)
c.*958C>G (n.*958C>G)
c.1477C>G (n.1477C>G)
c.1371C>G (p.Ala457=)
c.*214C>G (n.*214C>G)
c.1377C>G (p.Ala459=)
c.1353C>G (p.Ala451=)
c.1419C>G (p.Ala473=)
c.936C>G (p.Ala312=)
c.960C>G (p.Ala320=)
5g.162153320C>TCA447691995GABRG2c.1381C>T
c.1476C>T (p.Ala492=)
c.1439C>T
n.634C>T
c.1071C>T (p.Ala357=)
c.1095C>T (p.Ala365=)
c.*3977C>T (n.*3977C>T)
c.1257C>T
c.747C>T (p.Ala249=)
c.1356C>T (p.Ala452=)
c.1380C>T (p.Ala460=)
c.2043C>T (n.2043C>T)
c.*1561C>T (n.*1561C>T)
c.*580C>T (n.*580C>T)
c.1314C>T (p.Ala438=)
c.1290C>T (p.Ala430=)
n.654C>T
n.6327C>T
c.818C>T
c.1293C>T (p.Ala431=)
c.1449C>T (p.Ala483=)
c.1500C>T (p.Ala500=)
c.*958C>T (n.*958C>T)
c.1477C>T (n.1477C>T)
c.1371C>T (p.Ala457=)
c.*214C>T (n.*214C>T)
c.1377C>T (p.Ala459=)
c.1353C>T (p.Ala451=)
c.1419C>T (p.Ala473=)
c.936C>T (p.Ala312=)
c.960C>T (p.Ala320=)
 dbSNP COSMIC
5g.162153321T>ACA362184058GABRG2c.1382T>A
c.1477T>A (p.Phe493Ile)
c.1440T>A
n.635T>A
c.1072T>A (p.Phe358Ile)
c.1096T>A (p.Phe366Ile)
c.*3978T>A (n.*3978T>A)
c.1258T>A
c.748T>A (p.Phe250Ile)
c.1357T>A (p.Phe453Ile)
c.1381T>A (p.Phe461Ile)
c.2044T>A (n.2044T>A)
c.*1562T>A (n.*1562T>A)
c.*581T>A (n.*581T>A)
c.1315T>A (p.Phe439Ile)
c.1291T>A (p.Phe431Ile)
n.655T>A
n.6328T>A
c.819T>A
c.1294T>A (p.Phe432Ile)
c.1450T>A (p.Phe484Ile)
c.1501T>A (p.Phe501Ile)
c.*959T>A (n.*959T>A)
c.1478T>A (n.1478T>A)
c.1372T>A (p.Phe458Ile)
c.*215T>A (n.*215T>A)
c.1378T>A (p.Phe460Ile)
c.1354T>A (p.Phe452Ile)
c.1420T>A (p.Phe474Ile)
c.937T>A (p.Phe313Ile)
c.961T>A (p.Phe321Ile)
5g.162153321T>CCA362184060GABRG2c.1382T>C
c.1477T>C (p.Phe493Leu)
c.1440T>C
n.635T>C
c.1072T>C (p.Phe358Leu)
c.1096T>C (p.Phe366Leu)
c.*3978T>C (n.*3978T>C)
c.1258T>C
c.748T>C (p.Phe250Leu)
c.1357T>C (p.Phe453Leu)
c.1381T>C (p.Phe461Leu)
c.2044T>C (n.2044T>C)
c.*1562T>C (n.*1562T>C)
c.*581T>C (n.*581T>C)
c.1315T>C (p.Phe439Leu)
c.1291T>C (p.Phe431Leu)
n.655T>C
n.6328T>C
c.819T>C
c.1294T>C (p.Phe432Leu)
c.1450T>C (p.Phe484Leu)
c.1501T>C (p.Phe501Leu)
c.*959T>C (n.*959T>C)
c.1478T>C (n.1478T>C)
c.1372T>C (p.Phe458Leu)
c.*215T>C (n.*215T>C)
c.1378T>C (p.Phe460Leu)
c.1354T>C (p.Phe452Leu)
c.1420T>C (p.Phe474Leu)
c.937T>C (p.Phe313Leu)
c.961T>C (p.Phe321Leu)
 gnomAD v4
5g.162153321T>GCA362184062GABRG2c.1382T>G
c.1477T>G (p.Phe493Val)
c.1440T>G
n.635T>G
c.1072T>G (p.Phe358Val)
c.1096T>G (p.Phe366Val)
c.*3978T>G (n.*3978T>G)
c.1258T>G
c.748T>G (p.Phe250Val)
c.1357T>G (p.Phe453Val)
c.1381T>G (p.Phe461Val)
c.2044T>G (n.2044T>G)
c.*1562T>G (n.*1562T>G)
c.*581T>G (n.*581T>G)
c.1315T>G (p.Phe439Val)
c.1291T>G (p.Phe431Val)
n.655T>G
n.6328T>G
c.819T>G
c.1294T>G (p.Phe432Val)
c.1450T>G (p.Phe484Val)
c.1501T>G (p.Phe501Val)
c.*959T>G (n.*959T>G)
c.1478T>G (n.1478T>G)
c.1372T>G (p.Phe458Val)
c.*215T>G (n.*215T>G)
c.1378T>G (p.Phe460Val)
c.1354T>G (p.Phe452Val)
c.1420T>G (p.Phe474Val)
c.937T>G (p.Phe313Val)
c.961T>G (p.Phe321Val)
5g.162153322T>ACA362184065GABRG2c.1383T>A
c.1478T>A (p.Phe493Tyr)
c.1441T>A
n.636T>A
c.1073T>A (p.Phe358Tyr)
c.1097T>A (p.Phe366Tyr)
c.*3979T>A (n.*3979T>A)
c.1259T>A
c.749T>A (p.Phe250Tyr)
c.1358T>A (p.Phe453Tyr)
c.1382T>A (p.Phe461Tyr)
c.2045T>A (n.2045T>A)
c.*1563T>A (n.*1563T>A)
c.*582T>A (n.*582T>A)
c.1316T>A (p.Phe439Tyr)
c.1292T>A (p.Phe431Tyr)
n.656T>A
n.6329T>A
c.820T>A
c.1295T>A (p.Phe432Tyr)
c.1451T>A (p.Phe484Tyr)
c.1502T>A (p.Phe501Tyr)
c.*960T>A (n.*960T>A)
c.1479T>A (n.1479T>A)
c.1373T>A (p.Phe458Tyr)
c.*216T>A (n.*216T>A)
c.1379T>A (p.Phe460Tyr)
c.1355T>A (p.Phe452Tyr)
c.1421T>A (p.Phe474Tyr)
c.938T>A (p.Phe313Tyr)
c.962T>A (p.Phe321Tyr)
5g.162153322T>CCA362184067GABRG2c.1383T>C
c.1478T>C (p.Phe493Ser)
c.1441T>C
n.636T>C
c.1073T>C (p.Phe358Ser)
c.1097T>C (p.Phe366Ser)
c.*3979T>C (n.*3979T>C)
c.1259T>C
c.749T>C (p.Phe250Ser)
c.1358T>C (p.Phe453Ser)
c.1382T>C (p.Phe461Ser)
c.2045T>C (n.2045T>C)
c.*1563T>C (n.*1563T>C)
c.*582T>C (n.*582T>C)
c.1316T>C (p.Phe439Ser)
c.1292T>C (p.Phe431Ser)
n.656T>C
n.6329T>C
c.820T>C
c.1295T>C (p.Phe432Ser)
c.1451T>C (p.Phe484Ser)
c.1502T>C (p.Phe501Ser)
c.*960T>C (n.*960T>C)
c.1479T>C (n.1479T>C)
c.1373T>C (p.Phe458Ser)
c.*216T>C (n.*216T>C)
c.1379T>C (p.Phe460Ser)
c.1355T>C (p.Phe452Ser)
c.1421T>C (p.Phe474Ser)
c.938T>C (p.Phe313Ser)
c.962T>C (p.Phe321Ser)
5g.162153322T>GCA362184069GABRG2c.1383T>G
c.1478T>G (p.Phe493Cys)
c.1441T>G
n.636T>G
c.1073T>G (p.Phe358Cys)
c.1097T>G (p.Phe366Cys)
c.*3979T>G (n.*3979T>G)
c.1259T>G
c.749T>G (p.Phe250Cys)
c.1358T>G (p.Phe453Cys)
c.1382T>G (p.Phe461Cys)
c.2045T>G (n.2045T>G)
c.*1563T>G (n.*1563T>G)
c.*582T>G (n.*582T>G)
c.1316T>G (p.Phe439Cys)
c.1292T>G (p.Phe431Cys)
n.656T>G
n.6329T>G
c.820T>G
c.1295T>G (p.Phe432Cys)
c.1451T>G (p.Phe484Cys)
c.1502T>G (p.Phe501Cys)
c.*960T>G (n.*960T>G)
c.1479T>G (n.1479T>G)
c.1373T>G (p.Phe458Cys)
c.*216T>G (n.*216T>G)
c.1379T>G (p.Phe460Cys)
c.1355T>G (p.Phe452Cys)
c.1421T>G (p.Phe474Cys)
c.938T>G (p.Phe313Cys)
c.962T>G (p.Phe321Cys)
5g.162153323C>ACA362184071GABRG2c.1384C>A
c.1479C>A (p.Phe493Leu)
c.1442C>A
n.637C>A
c.1074C>A (p.Phe358Leu)
c.1098C>A (p.Phe366Leu)
c.*3980C>A (n.*3980C>A)
c.1260C>A
c.750C>A (p.Phe250Leu)
c.1359C>A (p.Phe453Leu)
c.1383C>A (p.Phe461Leu)
c.2046C>A (n.2046C>A)
c.*1564C>A (n.*1564C>A)
c.*583C>A (n.*583C>A)
c.1317C>A (p.Phe439Leu)
c.1293C>A (p.Phe431Leu)
n.657C>A
n.6330C>A
c.821C>A
c.1296C>A (p.Phe432Leu)
c.1452C>A (p.Phe484Leu)
c.1503C>A (p.Phe501Leu)
c.*961C>A (n.*961C>A)
c.1480C>A (n.1480C>A)
c.1374C>A (p.Phe458Leu)
c.*217C>A (n.*217C>A)
c.1380C>A (p.Phe460Leu)
c.1356C>A (p.Phe452Leu)
c.1422C>A (p.Phe474Leu)
c.939C>A (p.Phe313Leu)
c.963C>A (p.Phe321Leu)
5g.162153323C=CA1596382241GABRG2c.1384C=
c.1479C= (p.Phe493=)
c.1442C=
n.637C=
c.1074C= (p.Phe358=)
c.1098C= (p.Phe366=)
c.*3980C= (n.*3980C=)
c.1260C=
c.750C= (p.Phe250=)
c.1359C= (p.Phe453=)
c.1383C= (p.Phe461=)
c.2046C= (n.2046C=)
c.*1564C= (n.*1564C=)
c.*583C= (n.*583C=)
c.1317C= (p.Phe439=)
c.1293C= (p.Phe431=)
n.657C=
n.6330C=
c.821C=
c.1296C= (p.Phe432=)
c.1452C= (p.Phe484=)
c.1503C= (p.Phe501=)
c.*961C= (n.*961C=)
c.1480C= (n.1480C=)
c.1374C= (p.Phe458=)
c.*217C= (n.*217C=)
c.1380C= (p.Phe460=)
c.1356C= (p.Phe452=)
c.1422C= (p.Phe474=)
c.939C= (p.Phe313=)
c.963C= (p.Phe321=)
5g.162153323C>GCA362184072GABRG2c.1384C>G
c.1479C>G (p.Phe493Leu)
c.1442C>G
n.637C>G
c.1074C>G (p.Phe358Leu)
c.1098C>G (p.Phe366Leu)
c.*3980C>G (n.*3980C>G)
c.1260C>G
c.750C>G (p.Phe250Leu)
c.1359C>G (p.Phe453Leu)
c.1383C>G (p.Phe461Leu)
c.2046C>G (n.2046C>G)
c.*1564C>G (n.*1564C>G)
c.*583C>G (n.*583C>G)
c.1317C>G (p.Phe439Leu)
c.1293C>G (p.Phe431Leu)
n.657C>G
n.6330C>G
c.821C>G
c.1296C>G (p.Phe432Leu)
c.1452C>G (p.Phe484Leu)
c.1503C>G (p.Phe501Leu)
c.*961C>G (n.*961C>G)
c.1480C>G (n.1480C>G)
c.1374C>G (p.Phe458Leu)
c.*217C>G (n.*217C>G)
c.1380C>G (p.Phe460Leu)
c.1356C>G (p.Phe452Leu)
c.1422C>G (p.Phe474Leu)
c.939C>G (p.Phe313Leu)
c.963C>G (p.Phe321Leu)
 ClinVar dbSNP
5g.162153323C>TCA447691999GABRG2c.1384C>T
c.1479C>T (p.Phe493=)
c.1442C>T
n.637C>T
c.1074C>T (p.Phe358=)
c.1098C>T (p.Phe366=)
c.*3980C>T (n.*3980C>T)
c.1260C>T
c.750C>T (p.Phe250=)
c.1359C>T (p.Phe453=)
c.1383C>T (p.Phe461=)
c.2046C>T (n.2046C>T)
c.*1564C>T (n.*1564C>T)
c.*583C>T (n.*583C>T)
c.1317C>T (p.Phe439=)
c.1293C>T (p.Phe431=)
n.657C>T
n.6330C>T
c.821C>T
c.1296C>T (p.Phe432=)
c.1452C>T (p.Phe484=)
c.1503C>T (p.Phe501=)
c.*961C>T (n.*961C>T)
c.1480C>T (n.1480C>T)
c.1374C>T (p.Phe458=)
c.*217C>T (n.*217C>T)
c.1380C>T (p.Phe460=)
c.1356C>T (p.Phe452=)
c.1422C>T (p.Phe474=)
c.939C>T (p.Phe313=)
c.963C>T (p.Phe321=)
5g.162153324T>ACA362184075GABRG2c.1385T>A
c.1480T>A (p.Cys494Ser)
c.1443T>A
n.638T>A
c.1075T>A (p.Cys359Ser)
c.1099T>A (p.Cys367Ser)
c.*3981T>A (n.*3981T>A)
c.1261T>A
c.751T>A (p.Cys251Ser)
c.1360T>A (p.Cys454Ser)
c.1384T>A (p.Cys462Ser)
c.2047T>A (n.2047T>A)
c.*1565T>A (n.*1565T>A)
c.*584T>A (n.*584T>A)
c.1318T>A (p.Cys440Ser)
c.1294T>A (p.Cys432Ser)
n.658T>A
n.6331T>A
c.822T>A
c.1297T>A (p.Cys433Ser)
c.1453T>A (p.Cys485Ser)
c.1504T>A (p.Cys502Ser)
c.*962T>A (n.*962T>A)
c.1481T>A (n.1481T>A)
c.1375T>A (p.Cys459Ser)
c.*218T>A (n.*218T>A)
c.1381T>A (p.Cys461Ser)
c.1357T>A (p.Cys453Ser)
c.1423T>A (p.Cys475Ser)
c.940T>A (p.Cys314Ser)
c.964T>A (p.Cys322Ser)
5g.162153324T>CCA362184076GABRG2c.1385T>C
c.1480T>C (p.Cys494Arg)
c.1443T>C
n.638T>C
c.1075T>C (p.Cys359Arg)
c.1099T>C (p.Cys367Arg)
c.*3981T>C (n.*3981T>C)
c.1261T>C
c.751T>C (p.Cys251Arg)
c.1360T>C (p.Cys454Arg)
c.1384T>C (p.Cys462Arg)
c.2047T>C (n.2047T>C)
c.*1565T>C (n.*1565T>C)
c.*584T>C (n.*584T>C)
c.1318T>C (p.Cys440Arg)
c.1294T>C (p.Cys432Arg)
n.658T>C
n.6331T>C
c.822T>C
c.1297T>C (p.Cys433Arg)
c.1453T>C (p.Cys485Arg)
c.1504T>C (p.Cys502Arg)
c.*962T>C (n.*962T>C)
c.1481T>C (n.1481T>C)
c.1375T>C (p.Cys459Arg)
c.*218T>C (n.*218T>C)
c.1381T>C (p.Cys461Arg)
c.1357T>C (p.Cys453Arg)
c.1423T>C (p.Cys475Arg)
c.940T>C (p.Cys314Arg)
c.964T>C (p.Cys322Arg)
5g.162153324T>GCA362184078GABRG2c.1385T>G
c.1480T>G (p.Cys494Gly)
c.1443T>G
n.638T>G
c.1075T>G (p.Cys359Gly)
c.1099T>G (p.Cys367Gly)
c.*3981T>G (n.*3981T>G)
c.1261T>G
c.751T>G (p.Cys251Gly)
c.1360T>G (p.Cys454Gly)
c.1384T>G (p.Cys462Gly)
c.2047T>G (n.2047T>G)
c.*1565T>G (n.*1565T>G)
c.*584T>G (n.*584T>G)
c.1318T>G (p.Cys440Gly)
c.1294T>G (p.Cys432Gly)
n.658T>G
n.6331T>G
c.822T>G
c.1297T>G (p.Cys433Gly)
c.1453T>G (p.Cys485Gly)
c.1504T>G (p.Cys502Gly)
c.*962T>G (n.*962T>G)
c.1481T>G (n.1481T>G)
c.1375T>G (p.Cys459Gly)
c.*218T>G (n.*218T>G)
c.1381T>G (p.Cys461Gly)
c.1357T>G (p.Cys453Gly)
c.1423T>G (p.Cys475Gly)
c.940T>G (p.Cys314Gly)
c.964T>G (p.Cys322Gly)
 gnomAD v4 COSMIC
5g.162153325G>ACA362184084GABRG2c.1386G>A
c.1481G>A (p.Cys494Tyr)
c.1444G>A
n.639G>A
c.1076G>A (p.Cys359Tyr)
c.1100G>A (p.Cys367Tyr)
c.*3982G>A (n.*3982G>A)
c.1262G>A
c.752G>A (p.Cys251Tyr)
c.1361G>A (p.Cys454Tyr)
c.1385G>A (p.Cys462Tyr)
c.2048G>A (n.2048G>A)
c.*1566G>A (n.*1566G>A)
c.*585G>A (n.*585G>A)
c.1319G>A (p.Cys440Tyr)
c.1295G>A (p.Cys432Tyr)
n.659G>A
n.6332G>A
c.823G>A
c.1298G>A (p.Cys433Tyr)
c.1454G>A (p.Cys485Tyr)
c.1505G>A (p.Cys502Tyr)
c.*963G>A (n.*963G>A)
c.1482G>A (n.1482G>A)
c.1376G>A (p.Cys459Tyr)
c.*219G>A (n.*219G>A)
c.1382G>A (p.Cys461Tyr)
c.1358G>A (p.Cys453Tyr)
c.1424G>A (p.Cys475Tyr)
c.941G>A (p.Cys314Tyr)
c.965G>A (p.Cys322Tyr)
5g.162153325G>CCA362184082GABRG2c.1386G>C
c.1481G>C (p.Cys494Ser)
c.1444G>C
n.639G>C
c.1076G>C (p.Cys359Ser)
c.1100G>C (p.Cys367Ser)
c.*3982G>C (n.*3982G>C)
c.1262G>C
c.752G>C (p.Cys251Ser)
c.1361G>C (p.Cys454Ser)
c.1385G>C (p.Cys462Ser)
c.2048G>C (n.2048G>C)
c.*1566G>C (n.*1566G>C)
c.*585G>C (n.*585G>C)
c.1319G>C (p.Cys440Ser)
c.1295G>C (p.Cys432Ser)
n.659G>C
n.6332G>C
c.823G>C
c.1298G>C (p.Cys433Ser)
c.1454G>C (p.Cys485Ser)
c.1505G>C (p.Cys502Ser)
c.*963G>C (n.*963G>C)
c.1482G>C (n.1482G>C)
c.1376G>C (p.Cys459Ser)
c.*219G>C (n.*219G>C)
c.1382G>C (p.Cys461Ser)
c.1358G>C (p.Cys453Ser)
c.1424G>C (p.Cys475Ser)
c.941G>C (p.Cys314Ser)
c.965G>C (p.Cys322Ser)
 gnomAD v4
5g.162153325G>TCA362184080GABRG2c.1386G>T
c.1481G>T (p.Cys494Phe)
c.1444G>T
n.639G>T
c.1076G>T (p.Cys359Phe)
c.1100G>T (p.Cys367Phe)
c.*3982G>T (n.*3982G>T)
c.1262G>T
c.752G>T (p.Cys251Phe)
c.1361G>T (p.Cys454Phe)
c.1385G>T (p.Cys462Phe)
c.2048G>T (n.2048G>T)
c.*1566G>T (n.*1566G>T)
c.*585G>T (n.*585G>T)
c.1319G>T (p.Cys440Phe)
c.1295G>T (p.Cys432Phe)
n.659G>T
n.6332G>T
c.823G>T
c.1298G>T (p.Cys433Phe)
c.1454G>T (p.Cys485Phe)
c.1505G>T (p.Cys502Phe)
c.*963G>T (n.*963G>T)
c.1482G>T (n.1482G>T)
c.1376G>T (p.Cys459Phe)
c.*219G>T (n.*219G>T)
c.1382G>T (p.Cys461Phe)
c.1358G>T (p.Cys453Phe)
c.1424G>T (p.Cys475Phe)
c.941G>T (p.Cys314Phe)
c.965G>T (p.Cys322Phe)
5g.162153326C>ACA362184088GABRG2c.1387C>A
c.1482C>A (p.Cys494Ter)
c.1445C>A
n.640C>A
c.1077C>A (p.Cys359Ter)
c.1101C>A (p.Cys367Ter)
c.*3983C>A (n.*3983C>A)
c.1263C>A
c.753C>A (p.Cys251Ter)
c.1362C>A (p.Cys454Ter)
c.1386C>A (p.Cys462Ter)
c.2049C>A (n.2049C>A)
c.*1567C>A (n.*1567C>A)
c.*586C>A (n.*586C>A)
c.1320C>A (p.Cys440Ter)
c.1296C>A (p.Cys432Ter)
n.660C>A
n.6333C>A
c.824C>A
c.1299C>A (p.Cys433Ter)
c.1455C>A (p.Cys485Ter)
c.1506C>A (p.Cys502Ter)
c.*964C>A (n.*964C>A)
c.1483C>A (n.1483C>A)
c.1377C>A (p.Cys459Ter)
c.*220C>A (n.*220C>A)
c.1383C>A (p.Cys461Ter)
c.1359C>A (p.Cys453Ter)
c.1425C>A (p.Cys475Ter)
c.942C>A (p.Cys314Ter)
c.966C>A (p.Cys322Ter)
5g.162153326C>GCA362184086GABRG2c.1387C>G
c.1482C>G (p.Cys494Trp)
c.1445C>G
n.640C>G
c.1077C>G (p.Cys359Trp)
c.1101C>G (p.Cys367Trp)
c.*3983C>G (n.*3983C>G)
c.1263C>G
c.753C>G (p.Cys251Trp)
c.1362C>G (p.Cys454Trp)
c.1386C>G (p.Cys462Trp)
c.2049C>G (n.2049C>G)
c.*1567C>G (n.*1567C>G)
c.*586C>G (n.*586C>G)
c.1320C>G (p.Cys440Trp)
c.1296C>G (p.Cys432Trp)
n.660C>G
n.6333C>G
c.824C>G
c.1299C>G (p.Cys433Trp)
c.1455C>G (p.Cys485Trp)
c.1506C>G (p.Cys502Trp)
c.*964C>G (n.*964C>G)
c.1483C>G (n.1483C>G)
c.1377C>G (p.Cys459Trp)
c.*220C>G (n.*220C>G)
c.1383C>G (p.Cys461Trp)
c.1359C>G (p.Cys453Trp)
c.1425C>G (p.Cys475Trp)
c.942C>G (p.Cys314Trp)
c.966C>G (p.Cys322Trp)
5g.162153326C>TCA447692003GABRG2c.1387C>T
c.1482C>T (p.Cys494=)
c.1445C>T
n.640C>T
c.1077C>T (p.Cys359=)
c.1101C>T (p.Cys367=)
c.*3983C>T (n.*3983C>T)
c.1263C>T
c.753C>T (p.Cys251=)
c.1362C>T (p.Cys454=)
c.1386C>T (p.Cys462=)
c.2049C>T (n.2049C>T)
c.*1567C>T (n.*1567C>T)
c.*586C>T (n.*586C>T)
c.1320C>T (p.Cys440=)
c.1296C>T (p.Cys432=)
n.660C>T
n.6333C>T
c.824C>T
c.1299C>T (p.Cys433=)
c.1455C>T (p.Cys485=)
c.1506C>T (p.Cys502=)
c.*964C>T (n.*964C>T)
c.1483C>T (n.1483C>T)
c.1377C>T (p.Cys459=)
c.*220C>T (n.*220C>T)
c.1383C>T (p.Cys461=)
c.1359C>T (p.Cys453=)
c.1425C>T (p.Cys475=)
c.942C>T (p.Cys314=)
c.966C>T (p.Cys322=)
 gnomAD v4
5g.162153327C>ACA362184092GABRG2c.1388C>A
c.1483C>A (p.Leu495Met)
c.1446C>A
n.641C>A
c.1078C>A (p.Leu360Met)
c.1102C>A (p.Leu368Met)
c.*3984C>A (n.*3984C>A)
c.1264C>A
c.754C>A (p.Leu252Met)
c.1363C>A (p.Leu455Met)
c.1387C>A (p.Leu463Met)
c.2050C>A (n.2050C>A)
c.*1568C>A (n.*1568C>A)
c.*587C>A (n.*587C>A)
c.1321C>A (p.Leu441Met)
c.1297C>A (p.Leu433Met)
n.661C>A
n.6334C>A
c.825C>A
c.1300C>A (p.Leu434Met)
c.1456C>A (p.Leu486Met)
c.1507C>A (p.Leu503Met)
c.*965C>A (n.*965C>A)
c.1484C>A (n.1484C>A)
c.1378C>A (p.Leu460Met)
c.*221C>A (n.*221C>A)
c.1384C>A (p.Leu462Met)
c.1360C>A (p.Leu454Met)
c.1426C>A (p.Leu476Met)
c.943C>A (p.Leu315Met)
c.967C>A (p.Leu323Met)
5g.162153327C>GCA362184090GABRG2c.1388C>G
c.1483C>G (p.Leu495Val)
c.1446C>G
n.641C>G
c.1078C>G (p.Leu360Val)
c.1102C>G (p.Leu368Val)
c.*3984C>G (n.*3984C>G)
c.1264C>G
c.754C>G (p.Leu252Val)
c.1363C>G (p.Leu455Val)
c.1387C>G (p.Leu463Val)
c.2050C>G (n.2050C>G)
c.*1568C>G (n.*1568C>G)
c.*587C>G (n.*587C>G)
c.1321C>G (p.Leu441Val)
c.1297C>G (p.Leu433Val)
n.661C>G
n.6334C>G
c.825C>G
c.1300C>G (p.Leu434Val)
c.1456C>G (p.Leu486Val)
c.1507C>G (p.Leu503Val)
c.*965C>G (n.*965C>G)
c.1484C>G (n.1484C>G)
c.1378C>G (p.Leu460Val)
c.*221C>G (n.*221C>G)
c.1384C>G (p.Leu462Val)
c.1360C>G (p.Leu454Val)
c.1426C>G (p.Leu476Val)
c.943C>G (p.Leu315Val)
c.967C>G (p.Leu323Val)
5g.162153327C>TCA447692004GABRG2c.1388C>T
c.1483C>T (p.Leu495=)
c.1446C>T
n.641C>T
c.1078C>T (p.Leu360=)
c.1102C>T (p.Leu368=)
c.*3984C>T (n.*3984C>T)
c.1264C>T
c.754C>T (p.Leu252=)
c.1363C>T (p.Leu455=)
c.1387C>T (p.Leu463=)
c.2050C>T (n.2050C>T)
c.*1568C>T (n.*1568C>T)
c.*587C>T (n.*587C>T)
c.1321C>T (p.Leu441=)
c.1297C>T (p.Leu433=)
n.661C>T
n.6334C>T
c.825C>T
c.1300C>T (p.Leu434=)
c.1456C>T (p.Leu486=)
c.1507C>T (p.Leu503=)
c.*965C>T (n.*965C>T)
c.1484C>T (n.1484C>T)
c.1378C>T (p.Leu460=)
c.*221C>T (n.*221C>T)
c.1384C>T (p.Leu462=)
c.1360C>T (p.Leu454=)
c.1426C>T (p.Leu476=)
c.943C>T (p.Leu315=)
c.967C>T (p.Leu323=)
5g.162153328T>ACA362184094GABRG2c.1389T>A
c.1484T>A (p.Leu495Gln)
c.1447T>A
n.642T>A
c.1079T>A (p.Leu360Gln)
c.1103T>A (p.Leu368Gln)
c.*3985T>A (n.*3985T>A)
c.1265T>A
c.755T>A (p.Leu252Gln)
c.1364T>A (p.Leu455Gln)
c.1388T>A (p.Leu463Gln)
c.2051T>A (n.2051T>A)
c.*1569T>A (n.*1569T>A)
c.*588T>A (n.*588T>A)
c.1322T>A (p.Leu441Gln)
c.1298T>A (p.Leu433Gln)
n.662T>A
n.6335T>A
c.826T>A
c.1301T>A (p.Leu434Gln)
c.1457T>A (p.Leu486Gln)
c.1508T>A (p.Leu503Gln)
c.*966T>A (n.*966T>A)
c.1485T>A (n.1485T>A)
c.1379T>A (p.Leu460Gln)
c.*222T>A (n.*222T>A)
c.1385T>A (p.Leu462Gln)
c.1361T>A (p.Leu454Gln)
c.1427T>A (p.Leu476Gln)
c.944T>A (p.Leu315Gln)
c.968T>A (p.Leu323Gln)
5g.162153328T>CCA362184096GABRG2c.1389T>C
c.1484T>C (p.Leu495Pro)
c.1447T>C
n.642T>C
c.1079T>C (p.Leu360Pro)
c.1103T>C (p.Leu368Pro)
c.*3985T>C (n.*3985T>C)
c.1265T>C
c.755T>C (p.Leu252Pro)
c.1364T>C (p.Leu455Pro)
c.1388T>C (p.Leu463Pro)
c.2051T>C (n.2051T>C)
c.*1569T>C (n.*1569T>C)
c.*588T>C (n.*588T>C)
c.1322T>C (p.Leu441Pro)
c.1298T>C (p.Leu433Pro)
n.662T>C
n.6335T>C
c.826T>C
c.1301T>C (p.Leu434Pro)
c.1457T>C (p.Leu486Pro)
c.1508T>C (p.Leu503Pro)
c.*966T>C (n.*966T>C)
c.1485T>C (n.1485T>C)
c.1379T>C (p.Leu460Pro)
c.*222T>C (n.*222T>C)
c.1385T>C (p.Leu462Pro)
c.1361T>C (p.Leu454Pro)
c.1427T>C (p.Leu476Pro)
c.944T>C (p.Leu315Pro)
c.968T>C (p.Leu323Pro)
5g.162153328T>GCA362184098GABRG2c.1389T>G
c.1484T>G (p.Leu495Arg)
c.1447T>G
n.642T>G
c.1079T>G (p.Leu360Arg)
c.1103T>G (p.Leu368Arg)
c.*3985T>G (n.*3985T>G)
c.1265T>G
c.755T>G (p.Leu252Arg)
c.1364T>G (p.Leu455Arg)
c.1388T>G (p.Leu463Arg)
c.2051T>G (n.2051T>G)
c.*1569T>G (n.*1569T>G)
c.*588T>G (n.*588T>G)
c.1322T>G (p.Leu441Arg)
c.1298T>G (p.Leu433Arg)
n.662T>G
n.6335T>G
c.826T>G
c.1301T>G (p.Leu434Arg)
c.1457T>G (p.Leu486Arg)
c.1508T>G (p.Leu503Arg)
c.*966T>G (n.*966T>G)
c.1485T>G (n.1485T>G)
c.1379T>G (p.Leu460Arg)
c.*222T>G (n.*222T>G)
c.1385T>G (p.Leu462Arg)
c.1361T>G (p.Leu454Arg)
c.1427T>G (p.Leu476Arg)
c.944T>G (p.Leu315Arg)
c.968T>G (p.Leu323Arg)
5g.162153329G>ACA3544996GABRG2c.1390G>A
c.1485G>A (p.Leu495=)
c.1448G>A
n.643G>A
c.1080G>A (p.Leu360=)
c.1104G>A (p.Leu368=)
c.*3986G>A (n.*3986G>A)
c.1266G>A
c.756G>A (p.Leu252=)
c.1365G>A (p.Leu455=)
c.1389G>A (p.Leu463=)
c.2052G>A (n.2052G>A)
c.*1570G>A (n.*1570G>A)
c.*589G>A (n.*589G>A)
c.1323G>A (p.Leu441=)
c.1299G>A (p.Leu433=)
n.663G>A
n.6336G>A
c.827G>A
c.1302G>A (p.Leu434=)
c.1458G>A (p.Leu486=)
c.1509G>A (p.Leu503=)
c.*967G>A (n.*967G>A)
c.1486G>A (n.1486G>A)
c.1380G>A (p.Leu460=)
c.*223G>A (n.*223G>A)
c.1386G>A (p.Leu462=)
c.1362G>A (p.Leu454=)
c.1428G>A (p.Leu476=)
c.945G>A (p.Leu315=)
c.969G>A (p.Leu323=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.162153329G>CCA447692007GABRG2c.1390G>C
c.1485G>C (p.Leu495=)
c.1448G>C
n.643G>C
c.1080G>C (p.Leu360=)
c.1104G>C (p.Leu368=)
c.*3986G>C (n.*3986G>C)
c.1266G>C
c.756G>C (p.Leu252=)
c.1365G>C (p.Leu455=)
c.1389G>C (p.Leu463=)
c.2052G>C (n.2052G>C)
c.*1570G>C (n.*1570G>C)
c.*589G>C (n.*589G>C)
c.1323G>C (p.Leu441=)
c.1299G>C (p.Leu433=)
n.663G>C
n.6336G>C
c.827G>C
c.1302G>C (p.Leu434=)
c.1458G>C (p.Leu486=)
c.1509G>C (p.Leu503=)
c.*967G>C (n.*967G>C)
c.1486G>C (n.1486G>C)
c.1380G>C (p.Leu460=)
c.*223G>C (n.*223G>C)
c.1386G>C (p.Leu462=)
c.1362G>C (p.Leu454=)
c.1428G>C (p.Leu476=)
c.945G>C (p.Leu315=)
c.969G>C (p.Leu323=)
5g.162153329G=CA1596382247GABRG2c.1390G=
c.1485G= (p.Leu495=)
c.1448G=
n.643G=
c.1080G= (p.Leu360=)
c.1104G= (p.Leu368=)
c.*3986G= (n.*3986G=)
c.1266G=
c.756G= (p.Leu252=)
c.1365G= (p.Leu455=)
c.1389G= (p.Leu463=)
c.2052G= (n.2052G=)
c.*1570G= (n.*1570G=)
c.*589G= (n.*589G=)
c.1323G= (p.Leu441=)
c.1299G= (p.Leu433=)
n.663G=
n.6336G=
c.827G=
c.1302G= (p.Leu434=)
c.1458G= (p.Leu486=)
c.1509G= (p.Leu503=)
c.*967G= (n.*967G=)
c.1486G= (n.1486G=)
c.1380G= (p.Leu460=)
c.*223G= (n.*223G=)
c.1386G= (p.Leu462=)
c.1362G= (p.Leu454=)
c.1428G= (p.Leu476=)
c.945G= (p.Leu315=)
c.969G= (p.Leu323=)
5g.162153329G>TCA447692008GABRG2c.1390G>T
c.1485G>T (p.Leu495=)
c.1448G>T
n.643G>T
c.1080G>T (p.Leu360=)
c.1104G>T (p.Leu368=)
c.*3986G>T (n.*3986G>T)
c.1266G>T
c.756G>T (p.Leu252=)
c.1365G>T (p.Leu455=)
c.1389G>T (p.Leu463=)
c.2052G>T (n.2052G>T)
c.*1570G>T (n.*1570G>T)
c.*589G>T (n.*589G>T)
c.1323G>T (p.Leu441=)
c.1299G>T (p.Leu433=)
n.663G>T
n.6336G>T
c.827G>T
c.1302G>T (p.Leu434=)
c.1458G>T (p.Leu486=)
c.1509G>T (p.Leu503=)
c.*967G>T (n.*967G>T)
c.1486G>T (n.1486G>T)
c.1380G>T (p.Leu460=)
c.*223G>T (n.*223G>T)
c.1386G>T (p.Leu462=)
c.1362G>T (p.Leu454=)
c.1428G>T (p.Leu476=)
c.945G>T (p.Leu315=)
c.969G>T (p.Leu323=)
 COSMIC
5g.162153330T>ACA362184100GABRG2c.1391T>A
c.1486T>A (p.Phe496Ile)
c.1449T>A
n.644T>A
c.1081T>A (p.Phe361Ile)
c.1105T>A (p.Phe369Ile)
c.*3987T>A (n.*3987T>A)
c.1267T>A
c.757T>A (p.Phe253Ile)
c.1366T>A (p.Phe456Ile)
c.1390T>A (p.Phe464Ile)
c.2053T>A (n.2053T>A)
c.*1571T>A (n.*1571T>A)
c.*590T>A (n.*590T>A)
c.1324T>A (p.Phe442Ile)
c.1300T>A (p.Phe434Ile)
n.664T>A
n.6337T>A
c.828T>A
c.1303T>A (p.Phe435Ile)
c.1459T>A (p.Phe487Ile)
c.1510T>A (p.Phe504Ile)
c.*968T>A (n.*968T>A)
c.1487T>A (n.1487T>A)
c.1381T>A (p.Phe461Ile)
c.*224T>A (n.*224T>A)
c.1387T>A (p.Phe463Ile)
c.1363T>A (p.Phe455Ile)
c.1429T>A (p.Phe477Ile)
c.946T>A (p.Phe316Ile)
c.970T>A (p.Phe324Ile)
5g.162153330T>CCA362184102GABRG2c.1391T>C
c.1486T>C (p.Phe496Leu)
c.1449T>C
n.644T>C
c.1081T>C (p.Phe361Leu)
c.1105T>C (p.Phe369Leu)
c.*3987T>C (n.*3987T>C)
c.1267T>C
c.757T>C (p.Phe253Leu)
c.1366T>C (p.Phe456Leu)
c.1390T>C (p.Phe464Leu)
c.2053T>C (n.2053T>C)
c.*1571T>C (n.*1571T>C)
c.*590T>C (n.*590T>C)
c.1324T>C (p.Phe442Leu)
c.1300T>C (p.Phe434Leu)
n.664T>C
n.6337T>C
c.828T>C
c.1303T>C (p.Phe435Leu)
c.1459T>C (p.Phe487Leu)
c.1510T>C (p.Phe504Leu)
c.*968T>C (n.*968T>C)
c.1487T>C (n.1487T>C)
c.1381T>C (p.Phe461Leu)
c.*224T>C (n.*224T>C)
c.1387T>C (p.Phe463Leu)
c.1363T>C (p.Phe455Leu)
c.1429T>C (p.Phe477Leu)
c.946T>C (p.Phe316Leu)
c.970T>C (p.Phe324Leu)
5g.162153330T>GCA362184104GABRG2c.1391T>G
c.1486T>G (p.Phe496Val)
c.1449T>G
n.644T>G
c.1081T>G (p.Phe361Val)
c.1105T>G (p.Phe369Val)
c.*3987T>G (n.*3987T>G)
c.1267T>G
c.757T>G (p.Phe253Val)
c.1366T>G (p.Phe456Val)
c.1390T>G (p.Phe464Val)
c.2053T>G (n.2053T>G)
c.*1571T>G (n.*1571T>G)
c.*590T>G (n.*590T>G)
c.1324T>G (p.Phe442Val)
c.1300T>G (p.Phe434Val)
n.664T>G
n.6337T>G
c.828T>G
c.1303T>G (p.Phe435Val)
c.1459T>G (p.Phe487Val)
c.1510T>G (p.Phe504Val)
c.*968T>G (n.*968T>G)
c.1487T>G (n.1487T>G)
c.1381T>G (p.Phe461Val)
c.*224T>G (n.*224T>G)
c.1387T>G (p.Phe463Val)
c.1363T>G (p.Phe455Val)
c.1429T>G (p.Phe477Val)
c.946T>G (p.Phe316Val)
c.970T>G (p.Phe324Val)
5g.162153331T>ACA362184106GABRG2c.1392T>A
c.1487T>A (p.Phe496Tyr)
c.1450T>A
n.645T>A
c.1082T>A (p.Phe361Tyr)
c.1106T>A (p.Phe369Tyr)
c.*3988T>A (n.*3988T>A)
c.1268T>A
c.758T>A (p.Phe253Tyr)
c.1367T>A (p.Phe456Tyr)
c.1391T>A (p.Phe464Tyr)
c.2054T>A (n.2054T>A)
c.*1572T>A (n.*1572T>A)
c.*591T>A (n.*591T>A)
c.1325T>A (p.Phe442Tyr)
c.1301T>A (p.Phe434Tyr)
n.665T>A
n.6338T>A
c.829T>A
c.1304T>A (p.Phe435Tyr)
c.1460T>A (p.Phe487Tyr)
c.1511T>A (p.Phe504Tyr)
c.*969T>A (n.*969T>A)
c.1488T>A (n.1488T>A)
c.1382T>A (p.Phe461Tyr)
c.*225T>A (n.*225T>A)
c.1388T>A (p.Phe463Tyr)
c.1364T>A (p.Phe455Tyr)
c.1430T>A (p.Phe477Tyr)
c.947T>A (p.Phe316Tyr)
c.971T>A (p.Phe324Tyr)
 COSMIC
5g.162153331T>CCA362184108GABRG2c.1392T>C
c.1487T>C (p.Phe496Ser)
c.1450T>C
n.645T>C
c.1082T>C (p.Phe361Ser)
c.1106T>C (p.Phe369Ser)
c.*3988T>C (n.*3988T>C)
c.1268T>C
c.758T>C (p.Phe253Ser)
c.1367T>C (p.Phe456Ser)
c.1391T>C (p.Phe464Ser)
c.2054T>C (n.2054T>C)
c.*1572T>C (n.*1572T>C)
c.*591T>C (n.*591T>C)
c.1325T>C (p.Phe442Ser)
c.1301T>C (p.Phe434Ser)
n.665T>C
n.6338T>C
c.829T>C
c.1304T>C (p.Phe435Ser)
c.1460T>C (p.Phe487Ser)
c.1511T>C (p.Phe504Ser)
c.*969T>C (n.*969T>C)
c.1488T>C (n.1488T>C)
c.1382T>C (p.Phe461Ser)
c.*225T>C (n.*225T>C)
c.1388T>C (p.Phe463Ser)
c.1364T>C (p.Phe455Ser)
c.1430T>C (p.Phe477Ser)
c.947T>C (p.Phe316Ser)
c.971T>C (p.Phe324Ser)
5g.162153331T>GCA362184109GABRG2c.1392T>G
c.1487T>G (p.Phe496Cys)
c.1450T>G
n.645T>G
c.1082T>G (p.Phe361Cys)
c.1106T>G (p.Phe369Cys)
c.*3988T>G (n.*3988T>G)
c.1268T>G
c.758T>G (p.Phe253Cys)
c.1367T>G (p.Phe456Cys)
c.1391T>G (p.Phe464Cys)
c.2054T>G (n.2054T>G)
c.*1572T>G (n.*1572T>G)
c.*591T>G (n.*591T>G)
c.1325T>G (p.Phe442Cys)
c.1301T>G (p.Phe434Cys)
n.665T>G
n.6338T>G
c.829T>G
c.1304T>G (p.Phe435Cys)
c.1460T>G (p.Phe487Cys)
c.1511T>G (p.Phe504Cys)
c.*969T>G (n.*969T>G)
c.1488T>G (n.1488T>G)
c.1382T>G (p.Phe461Cys)
c.*225T>G (n.*225T>G)
c.1388T>G (p.Phe463Cys)
c.1364T>G (p.Phe455Cys)
c.1430T>G (p.Phe477Cys)
c.947T>G (p.Phe316Cys)
c.971T>G (p.Phe324Cys)
5g.162153332T>ACA362184112GABRG2c.1393T>A
c.1488T>A (p.Phe496Leu)
c.1451T>A
n.646T>A
c.1083T>A (p.Phe361Leu)
c.1107T>A (p.Phe369Leu)
c.*3989T>A (n.*3989T>A)
c.1269T>A
c.759T>A (p.Phe253Leu)
c.1368T>A (p.Phe456Leu)
c.1392T>A (p.Phe464Leu)
c.2055T>A (n.2055T>A)
c.*1573T>A (n.*1573T>A)
c.*592T>A (n.*592T>A)
c.1326T>A (p.Phe442Leu)
c.1302T>A (p.Phe434Leu)
n.666T>A
n.6339T>A
c.830T>A
c.1305T>A (p.Phe435Leu)
c.1461T>A (p.Phe487Leu)
c.1512T>A (p.Phe504Leu)
c.*970T>A (n.*970T>A)
c.1489T>A (n.1489T>A)
c.1383T>A (p.Phe461Leu)
c.*226T>A (n.*226T>A)
c.1389T>A (p.Phe463Leu)
c.1365T>A (p.Phe455Leu)
c.1431T>A (p.Phe477Leu)
c.948T>A (p.Phe316Leu)
c.972T>A (p.Phe324Leu)
5g.162153332T>CCA447692011GABRG2c.1393T>C
c.1488T>C (p.Phe496=)
c.1451T>C
n.646T>C
c.1083T>C (p.Phe361=)
c.1107T>C (p.Phe369=)
c.*3989T>C (n.*3989T>C)
c.1269T>C
c.759T>C (p.Phe253=)
c.1368T>C (p.Phe456=)
c.1392T>C (p.Phe464=)
c.2055T>C (n.2055T>C)
c.*1573T>C (n.*1573T>C)
c.*592T>C (n.*592T>C)
c.1326T>C (p.Phe442=)
c.1302T>C (p.Phe434=)
n.666T>C
n.6339T>C
c.830T>C
c.1305T>C (p.Phe435=)
c.1461T>C (p.Phe487=)
c.1512T>C (p.Phe504=)
c.*970T>C (n.*970T>C)
c.1489T>C (n.1489T>C)
c.1383T>C (p.Phe461=)
c.*226T>C (n.*226T>C)
c.1389T>C (p.Phe463=)
c.1365T>C (p.Phe455=)
c.1431T>C (p.Phe477=)
c.948T>C (p.Phe316=)
c.972T>C (p.Phe324=)
 gnomAD v4
5g.162153332T>GCA362184114GABRG2c.1393T>G
c.1488T>G (p.Phe496Leu)
c.1451T>G
n.646T>G
c.1083T>G (p.Phe361Leu)
c.1107T>G (p.Phe369Leu)
c.*3989T>G (n.*3989T>G)
c.1269T>G
c.759T>G (p.Phe253Leu)
c.1368T>G (p.Phe456Leu)
c.1392T>G (p.Phe464Leu)
c.2055T>G (n.2055T>G)
c.*1573T>G (n.*1573T>G)
c.*592T>G (n.*592T>G)
c.1326T>G (p.Phe442Leu)
c.1302T>G (p.Phe434Leu)
n.666T>G
n.6339T>G
c.830T>G
c.1305T>G (p.Phe435Leu)
c.1461T>G (p.Phe487Leu)
c.1512T>G (p.Phe504Leu)
c.*970T>G (n.*970T>G)
c.1489T>G (n.1489T>G)
c.1383T>G (p.Phe461Leu)
c.*226T>G (n.*226T>G)
c.1389T>G (p.Phe463Leu)
c.1365T>G (p.Phe455Leu)
c.1431T>G (p.Phe477Leu)
c.948T>G (p.Phe316Leu)
c.972T>G (p.Phe324Leu)
5g.162153333A=CA1596382251GABRG2c.1394A=
c.1489A= (p.Asn497=)
c.1452A=
n.647A=
c.1084A= (p.Asn362=)
c.1108A= (p.Asn370=)
c.*3990A= (n.*3990A=)
c.1270A=
c.760A= (p.Asn254=)
c.1369A= (p.Asn457=)
c.1393A= (p.Asn465=)
c.2056A= (n.2056A=)
c.*1574A= (n.*1574A=)
c.*593A= (n.*593A=)
c.1327A= (p.Asn443=)
c.1303A= (p.Asn435=)
n.667A=
n.6340A=
c.831A=
c.1306A= (p.Asn436=)
c.1462A= (p.Asn488=)
c.1513A= (p.Asn505=)
c.*971A= (n.*971A=)
c.1490A= (n.1490A=)
c.1384A= (p.Asn462=)
c.*227A= (n.*227A=)
c.1390A= (p.Asn464=)
c.1366A= (p.Asn456=)
c.1432A= (p.Asn478=)
c.949A= (p.Asn317=)
c.973A= (p.Asn325=)
5g.162153333A>CCA362184115GABRG2c.1394A>C
c.1489A>C (p.Asn497His)
c.1452A>C
n.647A>C
c.1084A>C (p.Asn362His)
c.1108A>C (p.Asn370His)
c.*3990A>C (n.*3990A>C)
c.1270A>C
c.760A>C (p.Asn254His)
c.1369A>C (p.Asn457His)
c.1393A>C (p.Asn465His)
c.2056A>C (n.2056A>C)
c.*1574A>C (n.*1574A>C)
c.*593A>C (n.*593A>C)
c.1327A>C (p.Asn443His)
c.1303A>C (p.Asn435His)
n.667A>C
n.6340A>C
c.831A>C
c.1306A>C (p.Asn436His)
c.1462A>C (p.Asn488His)
c.1513A>C (p.Asn505His)
c.*971A>C (n.*971A>C)
c.1490A>C (n.1490A>C)
c.1384A>C (p.Asn462His)
c.*227A>C (n.*227A>C)
c.1390A>C (p.Asn464His)
c.1366A>C (p.Asn456His)
c.1432A>C (p.Asn478His)
c.949A>C (p.Asn317His)
c.973A>C (p.Asn325His)
5g.162153333A>GCA362184119GABRG2c.1394A>G
c.1489A>G (p.Asn497Asp)
c.1452A>G
n.647A>G
c.1084A>G (p.Asn362Asp)
c.1108A>G (p.Asn370Asp)
c.*3990A>G (n.*3990A>G)
c.1270A>G
c.760A>G (p.Asn254Asp)
c.1369A>G (p.Asn457Asp)
c.1393A>G (p.Asn465Asp)
c.2056A>G (n.2056A>G)
c.*1574A>G (n.*1574A>G)
c.*593A>G (n.*593A>G)
c.1327A>G (p.Asn443Asp)
c.1303A>G (p.Asn435Asp)
n.667A>G
n.6340A>G
c.831A>G
c.1306A>G (p.Asn436Asp)
c.1462A>G (p.Asn488Asp)
c.1513A>G (p.Asn505Asp)
c.*971A>G (n.*971A>G)
c.1490A>G (n.1490A>G)
c.1384A>G (p.Asn462Asp)
c.*227A>G (n.*227A>G)
c.1390A>G (p.Asn464Asp)
c.1366A>G (p.Asn456Asp)
c.1432A>G (p.Asn478Asp)
c.949A>G (p.Asn317Asp)
c.973A>G (p.Asn325Asp)
5g.162153333A>TCA362184117GABRG2c.1394A>T
c.1489A>T (p.Asn497Tyr)
c.1452A>T
n.647A>T
c.1084A>T (p.Asn362Tyr)
c.1108A>T (p.Asn370Tyr)
c.*3990A>T (n.*3990A>T)
c.1270A>T
c.760A>T (p.Asn254Tyr)
c.1369A>T (p.Asn457Tyr)
c.1393A>T (p.Asn465Tyr)
c.2056A>T (n.2056A>T)
c.*1574A>T (n.*1574A>T)
c.*593A>T (n.*593A>T)
c.1327A>T (p.Asn443Tyr)
c.1303A>T (p.Asn435Tyr)
n.667A>T
n.6340A>T
c.831A>T
c.1306A>T (p.Asn436Tyr)
c.1462A>T (p.Asn488Tyr)
c.1513A>T (p.Asn505Tyr)
c.*971A>T (n.*971A>T)
c.1490A>T (n.1490A>T)
c.1384A>T (p.Asn462Tyr)
c.*227A>T (n.*227A>T)
c.1390A>T (p.Asn464Tyr)
c.1366A>T (p.Asn456Tyr)
c.1432A>T (p.Asn478Tyr)
c.949A>T (p.Asn317Tyr)
c.973A>T (p.Asn325Tyr)
 ClinVar dbSNP
5g.162153334A>CCA362184121GABRG2c.1395A>C
c.1490A>C (p.Asn497Thr)
c.1453A>C
n.648A>C
c.1085A>C (p.Asn362Thr)
c.1109A>C (p.Asn370Thr)
c.*3991A>C (n.*3991A>C)
c.1271A>C
c.761A>C (p.Asn254Thr)
c.1370A>C (p.Asn457Thr)
c.1394A>C (p.Asn465Thr)
c.2057A>C (n.2057A>C)
c.*1575A>C (n.*1575A>C)
c.*594A>C (n.*594A>C)
c.1328A>C (p.Asn443Thr)
c.1304A>C (p.Asn435Thr)
n.668A>C
n.6341A>C
c.832A>C
c.1307A>C (p.Asn436Thr)
c.1463A>C (p.Asn488Thr)
c.1514A>C (p.Asn505Thr)
c.*972A>C (n.*972A>C)
c.1491A>C (n.1491A>C)
c.1385A>C (p.Asn462Thr)
c.*228A>C (n.*228A>C)
c.1391A>C (p.Asn464Thr)
c.1367A>C (p.Asn456Thr)
c.1433A>C (p.Asn478Thr)
c.950A>C (p.Asn317Thr)
c.974A>C (p.Asn325Thr)
5g.162153334A>GCA362184123GABRG2c.1395A>G
c.1490A>G (p.Asn497Ser)
c.1453A>G
n.648A>G
c.1085A>G (p.Asn362Ser)
c.1109A>G (p.Asn370Ser)
c.*3991A>G (n.*3991A>G)
c.1271A>G
c.761A>G (p.Asn254Ser)
c.1370A>G (p.Asn457Ser)
c.1394A>G (p.Asn465Ser)
c.2057A>G (n.2057A>G)
c.*1575A>G (n.*1575A>G)
c.*594A>G (n.*594A>G)
c.1328A>G (p.Asn443Ser)
c.1304A>G (p.Asn435Ser)
n.668A>G
n.6341A>G
c.832A>G
c.1307A>G (p.Asn436Ser)
c.1463A>G (p.Asn488Ser)
c.1514A>G (p.Asn505Ser)
c.*972A>G (n.*972A>G)
c.1491A>G (n.1491A>G)
c.1385A>G (p.Asn462Ser)
c.*228A>G (n.*228A>G)
c.1391A>G (p.Asn464Ser)
c.1367A>G (p.Asn456Ser)
c.1433A>G (p.Asn478Ser)
c.950A>G (p.Asn317Ser)
c.974A>G (p.Asn325Ser)
 ClinVar dbSNP gnomAD v4
5g.162153334A>TCA362184125GABRG2c.1395A>T
c.1490A>T (p.Asn497Ile)
c.1453A>T
n.648A>T
c.1085A>T (p.Asn362Ile)
c.1109A>T (p.Asn370Ile)
c.*3991A>T (n.*3991A>T)
c.1271A>T
c.761A>T (p.Asn254Ile)
c.1370A>T (p.Asn457Ile)
c.1394A>T (p.Asn465Ile)
c.2057A>T (n.2057A>T)
c.*1575A>T (n.*1575A>T)
c.*594A>T (n.*594A>T)
c.1328A>T (p.Asn443Ile)
c.1304A>T (p.Asn435Ile)
n.668A>T
n.6341A>T
c.832A>T
c.1307A>T (p.Asn436Ile)
c.1463A>T (p.Asn488Ile)
c.1514A>T (p.Asn505Ile)
c.*972A>T (n.*972A>T)
c.1491A>T (n.1491A>T)
c.1385A>T (p.Asn462Ile)
c.*228A>T (n.*228A>T)
c.1391A>T (p.Asn464Ile)
c.1367A>T (p.Asn456Ile)
c.1433A>T (p.Asn478Ile)
c.950A>T (p.Asn317Ile)
c.974A>T (p.Asn325Ile)
5g.162153335T>ACA362184127GABRG2c.1396T>A
c.1491T>A (p.Asn497Lys)
c.1454T>A
n.649T>A
c.1086T>A (p.Asn362Lys)
c.1110T>A (p.Asn370Lys)
c.*3992T>A (n.*3992T>A)
c.1272T>A
c.762T>A (p.Asn254Lys)
c.1371T>A (p.Asn457Lys)
c.1395T>A (p.Asn465Lys)
c.2058T>A (n.2058T>A)
c.*1576T>A (n.*1576T>A)
c.*595T>A (n.*595T>A)
c.1329T>A (p.Asn443Lys)
c.1305T>A (p.Asn435Lys)
n.669T>A
n.6342T>A
c.833T>A
c.1308T>A (p.Asn436Lys)
c.1464T>A (p.Asn488Lys)
c.1515T>A (p.Asn505Lys)
c.*973T>A (n.*973T>A)
c.1492T>A (n.1492T>A)
c.1386T>A (p.Asn462Lys)
c.*229T>A (n.*229T>A)
c.1392T>A (p.Asn464Lys)
c.1368T>A (p.Asn456Lys)
c.1434T>A (p.Asn478Lys)
c.951T>A (p.Asn317Lys)
c.975T>A (p.Asn325Lys)
5g.162153335T>CCA447692015GABRG2c.1396T>C
c.1491T>C (p.Asn497=)
c.1454T>C
n.649T>C
c.1086T>C (p.Asn362=)
c.1110T>C (p.Asn370=)
c.*3992T>C (n.*3992T>C)
c.1272T>C
c.762T>C (p.Asn254=)
c.1371T>C (p.Asn457=)
c.1395T>C (p.Asn465=)
c.2058T>C (n.2058T>C)
c.*1576T>C (n.*1576T>C)
c.*595T>C (n.*595T>C)
c.1329T>C (p.Asn443=)
c.1305T>C (p.Asn435=)
n.669T>C
n.6342T>C
c.833T>C
c.1308T>C (p.Asn436=)
c.1464T>C (p.Asn488=)
c.1515T>C (p.Asn505=)
c.*973T>C (n.*973T>C)
c.1492T>C (n.1492T>C)
c.1386T>C (p.Asn462=)
c.*229T>C (n.*229T>C)
c.1392T>C (p.Asn464=)
c.1368T>C (p.Asn456=)
c.1434T>C (p.Asn478=)
c.951T>C (p.Asn317=)
c.975T>C (p.Asn325=)
5g.162153335T>GCA362184129GABRG2c.1396T>G
c.1491T>G (p.Asn497Lys)
c.1454T>G
n.649T>G
c.1086T>G (p.Asn362Lys)
c.1110T>G (p.Asn370Lys)
c.*3992T>G (n.*3992T>G)
c.1272T>G
c.762T>G (p.Asn254Lys)
c.1371T>G (p.Asn457Lys)
c.1395T>G (p.Asn465Lys)
c.2058T>G (n.2058T>G)
c.*1576T>G (n.*1576T>G)
c.*595T>G (n.*595T>G)
c.1329T>G (p.Asn443Lys)
c.1305T>G (p.Asn435Lys)
n.669T>G
n.6342T>G
c.833T>G
c.1308T>G (p.Asn436Lys)
c.1464T>G (p.Asn488Lys)
c.1515T>G (p.Asn505Lys)
c.*973T>G (n.*973T>G)
c.1492T>G (n.1492T>G)
c.1386T>G (p.Asn462Lys)
c.*229T>G (n.*229T>G)
c.1392T>G (p.Asn464Lys)
c.1368T>G (p.Asn456Lys)
c.1434T>G (p.Asn478Lys)
c.951T>G (p.Asn317Lys)
c.975T>G (p.Asn325Lys)
5g.162153336C>ACA362184131GABRG2c.1397C>A
c.1492C>A (p.Leu498Met)
c.1455C>A
n.650C>A
c.1087C>A (p.Leu363Met)
c.1111C>A (p.Leu371Met)
c.*3993C>A (n.*3993C>A)
c.1273C>A
c.763C>A (p.Leu255Met)
c.1372C>A (p.Leu458Met)
c.1396C>A (p.Leu466Met)
c.2059C>A (n.2059C>A)
c.*1577C>A (n.*1577C>A)
c.*596C>A (n.*596C>A)
c.1330C>A (p.Leu444Met)
c.1306C>A (p.Leu436Met)
n.670C>A
n.6343C>A
c.834C>A
c.1309C>A (p.Leu437Met)
c.1465C>A (p.Leu489Met)
c.1516C>A (p.Leu506Met)
c.*974C>A (n.*974C>A)
c.1493C>A (n.1493C>A)
c.1387C>A (p.Leu463Met)
c.*230C>A (n.*230C>A)
c.1393C>A (p.Leu465Met)
c.1369C>A (p.Leu457Met)
c.1435C>A (p.Leu479Met)
c.952C>A (p.Leu318Met)
c.976C>A (p.Leu326Met)
5g.162153336C=CA1596382257GABRG2c.1397C=
c.1492C= (p.Leu498=)
c.1455C=
n.650C=
c.1087C= (p.Leu363=)
c.1111C= (p.Leu371=)
c.*3993C= (n.*3993C=)
c.1273C=
c.763C= (p.Leu255=)
c.1372C= (p.Leu458=)
c.1396C= (p.Leu466=)
c.2059C= (n.2059C=)
c.*1577C= (n.*1577C=)
c.*596C= (n.*596C=)
c.1330C= (p.Leu444=)
c.1306C= (p.Leu436=)
n.670C=
n.6343C=
c.834C=
c.1309C= (p.Leu437=)
c.1465C= (p.Leu489=)
c.1516C= (p.Leu506=)
c.*974C= (n.*974C=)
c.1493C= (n.1493C=)
c.1387C= (p.Leu463=)
c.*230C= (n.*230C=)
c.1393C= (p.Leu465=)
c.1369C= (p.Leu457=)
c.1435C= (p.Leu479=)
c.952C= (p.Leu318=)
c.976C= (p.Leu326=)
5g.162153336C>GCA362184133GABRG2c.1397C>G
c.1492C>G (p.Leu498Val)
c.1455C>G
n.650C>G
c.1087C>G (p.Leu363Val)
c.1111C>G (p.Leu371Val)
c.*3993C>G (n.*3993C>G)
c.1273C>G
c.763C>G (p.Leu255Val)
c.1372C>G (p.Leu458Val)
c.1396C>G (p.Leu466Val)
c.2059C>G (n.2059C>G)
c.*1577C>G (n.*1577C>G)
c.*596C>G (n.*596C>G)
c.1330C>G (p.Leu444Val)
c.1306C>G (p.Leu436Val)
n.670C>G
n.6343C>G
c.834C>G
c.1309C>G (p.Leu437Val)
c.1465C>G (p.Leu489Val)
c.1516C>G (p.Leu506Val)
c.*974C>G (n.*974C>G)
c.1493C>G (n.1493C>G)
c.1387C>G (p.Leu463Val)
c.*230C>G (n.*230C>G)
c.1393C>G (p.Leu465Val)
c.1369C>G (p.Leu457Val)
c.1435C>G (p.Leu479Val)
c.952C>G (p.Leu318Val)
c.976C>G (p.Leu326Val)
 dbSNP gnomAD v4
5g.162153336C>TCA447692016GABRG2c.1397C>T
c.1492C>T (p.Leu498=)
c.1455C>T
n.650C>T
c.1087C>T (p.Leu363=)
c.1111C>T (p.Leu371=)
c.*3993C>T (n.*3993C>T)
c.1273C>T
c.763C>T (p.Leu255=)
c.1372C>T (p.Leu458=)
c.1396C>T (p.Leu466=)
c.2059C>T (n.2059C>T)
c.*1577C>T (n.*1577C>T)
c.*596C>T (n.*596C>T)
c.1330C>T (p.Leu444=)
c.1306C>T (p.Leu436=)
n.670C>T
n.6343C>T
c.834C>T
c.1309C>T (p.Leu437=)
c.1465C>T (p.Leu489=)
c.1516C>T (p.Leu506=)
c.*974C>T (n.*974C>T)
c.1493C>T (n.1493C>T)
c.1387C>T (p.Leu463=)
c.*230C>T (n.*230C>T)
c.1393C>T (p.Leu465=)
c.1369C>T (p.Leu457=)
c.1435C>T (p.Leu479=)
c.952C>T (p.Leu318=)
c.976C>T (p.Leu326=)
5g.162153337T>ACA362184135GABRG2c.1398T>A
c.1493T>A (p.Leu498Gln)
c.1456T>A
n.651T>A
c.1088T>A (p.Leu363Gln)
c.1112T>A (p.Leu371Gln)
c.*3994T>A (n.*3994T>A)
c.1274T>A
c.764T>A (p.Leu255Gln)
c.1373T>A (p.Leu458Gln)
c.1397T>A (p.Leu466Gln)
c.2060T>A (n.2060T>A)
c.*1578T>A (n.*1578T>A)
c.*597T>A (n.*597T>A)
c.1331T>A (p.Leu444Gln)
c.1307T>A (p.Leu436Gln)
n.671T>A
n.6344T>A
c.835T>A
c.1310T>A (p.Leu437Gln)
c.1466T>A (p.Leu489Gln)
c.1517T>A (p.Leu506Gln)
c.*975T>A (n.*975T>A)
c.1494T>A (n.1494T>A)
c.1388T>A (p.Leu463Gln)
c.*231T>A (n.*231T>A)
c.1394T>A (p.Leu465Gln)
c.1370T>A (p.Leu457Gln)
c.1436T>A (p.Leu479Gln)
c.953T>A (p.Leu318Gln)
c.977T>A (p.Leu326Gln)
5g.162153337T>CCA362184137GABRG2c.1398T>C
c.1493T>C (p.Leu498Pro)
c.1456T>C
n.651T>C
c.1088T>C (p.Leu363Pro)
c.1112T>C (p.Leu371Pro)
c.*3994T>C (n.*3994T>C)
c.1274T>C
c.764T>C (p.Leu255Pro)
c.1373T>C (p.Leu458Pro)
c.1397T>C (p.Leu466Pro)
c.2060T>C (n.2060T>C)
c.*1578T>C (n.*1578T>C)
c.*597T>C (n.*597T>C)
c.1331T>C (p.Leu444Pro)
c.1307T>C (p.Leu436Pro)
n.671T>C
n.6344T>C
c.835T>C
c.1310T>C (p.Leu437Pro)
c.1466T>C (p.Leu489Pro)
c.1517T>C (p.Leu506Pro)
c.*975T>C (n.*975T>C)
c.1494T>C (n.1494T>C)
c.1388T>C (p.Leu463Pro)
c.*231T>C (n.*231T>C)
c.1394T>C (p.Leu465Pro)
c.1370T>C (p.Leu457Pro)
c.1436T>C (p.Leu479Pro)
c.953T>C (p.Leu318Pro)
c.977T>C (p.Leu326Pro)
5g.162153337T>GCA362184139GABRG2c.1398T>G
c.1493T>G (p.Leu498Arg)
c.1456T>G
n.651T>G
c.1088T>G (p.Leu363Arg)
c.1112T>G (p.Leu371Arg)
c.*3994T>G (n.*3994T>G)
c.1274T>G
c.764T>G (p.Leu255Arg)
c.1373T>G (p.Leu458Arg)
c.1397T>G (p.Leu466Arg)
c.2060T>G (n.2060T>G)
c.*1578T>G (n.*1578T>G)
c.*597T>G (n.*597T>G)
c.1331T>G (p.Leu444Arg)
c.1307T>G (p.Leu436Arg)
n.671T>G
n.6344T>G
c.835T>G
c.1310T>G (p.Leu437Arg)
c.1466T>G (p.Leu489Arg)
c.1517T>G (p.Leu506Arg)
c.*975T>G (n.*975T>G)
c.1494T>G (n.1494T>G)
c.1388T>G (p.Leu463Arg)
c.*231T>G (n.*231T>G)
c.1394T>G (p.Leu465Arg)
c.1370T>G (p.Leu457Arg)
c.1436T>G (p.Leu479Arg)
c.953T>G (p.Leu318Arg)
c.977T>G (p.Leu326Arg)
5g.162153338G>ACA447692021GABRG2c.1399G>A
c.1494G>A (p.Leu498=)
c.1457G>A
n.652G>A
c.1089G>A (p.Leu363=)
c.1113G>A (p.Leu371=)
c.*3995G>A (n.*3995G>A)
c.1275G>A
c.765G>A (p.Leu255=)
c.1374G>A (p.Leu458=)
c.1398G>A (p.Leu466=)
c.2061G>A (n.2061G>A)
c.*1579G>A (n.*1579G>A)
c.*598G>A (n.*598G>A)
c.1332G>A (p.Leu444=)
c.1308G>A (p.Leu436=)
n.672G>A
n.6345G>A
c.836G>A
c.1311G>A (p.Leu437=)
c.1467G>A (p.Leu489=)
c.1518G>A (p.Leu506=)
c.*976G>A (n.*976G>A)
c.1495G>A (n.1495G>A)
c.1389G>A (p.Leu463=)
c.*232G>A (n.*232G>A)
c.1395G>A (p.Leu465=)
c.1371G>A (p.Leu457=)
c.1437G>A (p.Leu479=)
c.954G>A (p.Leu318=)
c.978G>A (p.Leu326=)
5g.162153338G>CCA447692020GABRG2c.1399G>C
c.1494G>C (p.Leu498=)
c.1457G>C
n.652G>C
c.1089G>C (p.Leu363=)
c.1113G>C (p.Leu371=)
c.*3995G>C (n.*3995G>C)
c.1275G>C
c.765G>C (p.Leu255=)
c.1374G>C (p.Leu458=)
c.1398G>C (p.Leu466=)
c.2061G>C (n.2061G>C)
c.*1579G>C (n.*1579G>C)
c.*598G>C (n.*598G>C)
c.1332G>C (p.Leu444=)
c.1308G>C (p.Leu436=)
n.672G>C
n.6345G>C
c.836G>C
c.1311G>C (p.Leu437=)
c.1467G>C (p.Leu489=)
c.1518G>C (p.Leu506=)
c.*976G>C (n.*976G>C)
c.1495G>C (n.1495G>C)
c.1389G>C (p.Leu463=)
c.*232G>C (n.*232G>C)
c.1395G>C (p.Leu465=)
c.1371G>C (p.Leu457=)
c.1437G>C (p.Leu479=)
c.954G>C (p.Leu318=)
c.978G>C (p.Leu326=)
5g.162153338G=CA1596382263GABRG2c.1399G=
c.1494G= (p.Leu498=)
c.1457G=
n.652G=
c.1089G= (p.Leu363=)
c.1113G= (p.Leu371=)
c.*3995G= (n.*3995G=)
c.1275G=
c.765G= (p.Leu255=)
c.1374G= (p.Leu458=)
c.1398G= (p.Leu466=)
c.2061G= (n.2061G=)
c.*1579G= (n.*1579G=)
c.*598G= (n.*598G=)
c.1332G= (p.Leu444=)
c.1308G= (p.Leu436=)
n.672G=
n.6345G=
c.836G=
c.1311G= (p.Leu437=)
c.1467G= (p.Leu489=)
c.1518G= (p.Leu506=)
c.*976G= (n.*976G=)
c.1495G= (n.1495G=)
c.1389G= (p.Leu463=)
c.*232G= (n.*232G=)
c.1395G= (p.Leu465=)
c.1371G= (p.Leu457=)
c.1437G= (p.Leu479=)
c.954G= (p.Leu318=)
c.978G= (p.Leu326=)
5g.162153338G>TCA447692019GABRG2c.1399G>T
c.1494G>T (p.Leu498=)
c.1457G>T
n.652G>T
c.1089G>T (p.Leu363=)
c.1113G>T (p.Leu371=)
c.*3995G>T (n.*3995G>T)
c.1275G>T
c.765G>T (p.Leu255=)
c.1374G>T (p.Leu458=)
c.1398G>T (p.Leu466=)
c.2061G>T (n.2061G>T)
c.*1579G>T (n.*1579G>T)
c.*598G>T (n.*598G>T)
c.1332G>T (p.Leu444=)
c.1308G>T (p.Leu436=)
n.672G>T
n.6345G>T
c.836G>T
c.1311G>T (p.Leu437=)
c.1467G>T (p.Leu489=)
c.1518G>T (p.Leu506=)
c.*976G>T (n.*976G>T)
c.1495G>T (n.1495G>T)
c.1389G>T (p.Leu463=)
c.*232G>T (n.*232G>T)
c.1395G>T (p.Leu465=)
c.1371G>T (p.Leu457=)
c.1437G>T (p.Leu479=)
c.954G>T (p.Leu318=)
c.978G>T (p.Leu326=)
 ClinVar dbSNP
5g.162153339G>ACA362184143GABRG2c.1400G>A
c.1495G>A (p.Val499Ile)
c.1458G>A
n.653G>A
c.1090G>A (p.Val364Ile)
c.1114G>A (p.Val372Ile)
c.*3996G>A (n.*3996G>A)
c.1276G>A
c.766G>A (p.Val256Ile)
c.1375G>A (p.Val459Ile)
c.1399G>A (p.Val467Ile)
c.2062G>A (n.2062G>A)
c.*1580G>A (n.*1580G>A)
c.*599G>A (n.*599G>A)
c.1333G>A (p.Val445Ile)
c.1309G>A (p.Val437Ile)
n.673G>A
n.6346G>A
c.837G>A
c.1312G>A (p.Val438Ile)
c.1468G>A (p.Val490Ile)
c.1519G>A (p.Val507Ile)
c.*977G>A (n.*977G>A)
c.1496G>A (n.1496G>A)
c.1390G>A (p.Val464Ile)
c.*233G>A (n.*233G>A)
c.1396G>A (p.Val466Ile)
c.1372G>A (p.Val458Ile)
c.1438G>A (p.Val480Ile)
c.955G>A (p.Val319Ile)
c.979G>A (p.Val327Ile)
 dbSNP gnomAD v2 gnomAD v4
5g.162153339G>CCA362184146GABRG2c.1400G>C
c.1495G>C (p.Val499Leu)
c.1458G>C
n.653G>C
c.1090G>C (p.Val364Leu)
c.1114G>C (p.Val372Leu)
c.*3996G>C (n.*3996G>C)
c.1276G>C
c.766G>C (p.Val256Leu)
c.1375G>C (p.Val459Leu)
c.1399G>C (p.Val467Leu)
c.2062G>C (n.2062G>C)
c.*1580G>C (n.*1580G>C)
c.*599G>C (n.*599G>C)
c.1333G>C (p.Val445Leu)
c.1309G>C (p.Val437Leu)
n.673G>C
n.6346G>C
c.837G>C
c.1312G>C (p.Val438Leu)
c.1468G>C (p.Val490Leu)
c.1519G>C (p.Val507Leu)
c.*977G>C (n.*977G>C)
c.1496G>C (n.1496G>C)
c.1390G>C (p.Val464Leu)
c.*233G>C (n.*233G>C)
c.1396G>C (p.Val466Leu)
c.1372G>C (p.Val458Leu)
c.1438G>C (p.Val480Leu)
c.955G>C (p.Val319Leu)
c.979G>C (p.Val327Leu)
5g.162153339G=CA1596382269GABRG2c.1400G=
c.1495G= (p.Val499=)
c.1458G=
n.653G=
c.1090G= (p.Val364=)
c.1114G= (p.Val372=)
c.*3996G= (n.*3996G=)
c.1276G=
c.766G= (p.Val256=)
c.1375G= (p.Val459=)
c.1399G= (p.Val467=)
c.2062G= (n.2062G=)
c.*1580G= (n.*1580G=)
c.*599G= (n.*599G=)
c.1333G= (p.Val445=)
c.1309G= (p.Val437=)
n.673G=
n.6346G=
c.837G=
c.1312G= (p.Val438=)
c.1468G= (p.Val490=)
c.1519G= (p.Val507=)
c.*977G= (n.*977G=)
c.1496G= (n.1496G=)
c.1390G= (p.Val464=)
c.*233G= (n.*233G=)
c.1396G= (p.Val466=)
c.1372G= (p.Val458=)
c.1438G= (p.Val480=)
c.955G= (p.Val319=)
c.979G= (p.Val327=)
5g.162153339G>TCA362184141GABRG2c.1400G>T
c.1495G>T (p.Val499Phe)
c.1458G>T
n.653G>T
c.1090G>T (p.Val364Phe)
c.1114G>T (p.Val372Phe)
c.*3996G>T (n.*3996G>T)
c.1276G>T
c.766G>T (p.Val256Phe)
c.1375G>T (p.Val459Phe)
c.1399G>T (p.Val467Phe)
c.2062G>T (n.2062G>T)
c.*1580G>T (n.*1580G>T)
c.*599G>T (n.*599G>T)
c.1333G>T (p.Val445Phe)
c.1309G>T (p.Val437Phe)
n.673G>T
n.6346G>T
c.837G>T
c.1312G>T (p.Val438Phe)
c.1468G>T (p.Val490Phe)
c.1519G>T (p.Val507Phe)
c.*977G>T (n.*977G>T)
c.1496G>T (n.1496G>T)
c.1390G>T (p.Val464Phe)
c.*233G>T (n.*233G>T)
c.1396G>T (p.Val466Phe)
c.1372G>T (p.Val458Phe)
c.1438G>T (p.Val480Phe)
c.955G>T (p.Val319Phe)
c.979G>T (p.Val327Phe)
5g.162153340T>ACA362184148GABRG2c.1401T>A
c.1496T>A (p.Val499Asp)
c.1459T>A
n.654T>A
c.1091T>A (p.Val364Asp)
c.1115T>A (p.Val372Asp)
c.*3997T>A (n.*3997T>A)
c.1277T>A
c.767T>A (p.Val256Asp)
c.1376T>A (p.Val459Asp)
c.1400T>A (p.Val467Asp)
c.2063T>A (n.2063T>A)
c.*1581T>A (n.*1581T>A)
c.*600T>A (n.*600T>A)
c.1334T>A (p.Val445Asp)
c.1310T>A (p.Val437Asp)
n.674T>A
n.6347T>A
c.838T>A
c.1313T>A (p.Val438Asp)
c.1469T>A (p.Val490Asp)
c.1520T>A (p.Val507Asp)
c.*978T>A (n.*978T>A)
c.1497T>A (n.1497T>A)
c.1391T>A (p.Val464Asp)
c.*234T>A (n.*234T>A)
c.1397T>A (p.Val466Asp)
c.1373T>A (p.Val458Asp)
c.1439T>A (p.Val480Asp)
c.956T>A (p.Val319Asp)
c.980T>A (p.Val327Asp)
5g.162153340T>CCA362184149GABRG2c.1401T>C
c.1496T>C (p.Val499Ala)
c.1459T>C
n.654T>C
c.1091T>C (p.Val364Ala)
c.1115T>C (p.Val372Ala)
c.*3997T>C (n.*3997T>C)
c.1277T>C
c.767T>C (p.Val256Ala)
c.1376T>C (p.Val459Ala)
c.1400T>C (p.Val467Ala)
c.2063T>C (n.2063T>C)
c.*1581T>C (n.*1581T>C)
c.*600T>C (n.*600T>C)
c.1334T>C (p.Val445Ala)
c.1310T>C (p.Val437Ala)
n.674T>C
n.6347T>C
c.838T>C
c.1313T>C (p.Val438Ala)
c.1469T>C (p.Val490Ala)
c.1520T>C (p.Val507Ala)
c.*978T>C (n.*978T>C)
c.1497T>C (n.1497T>C)
c.1391T>C (p.Val464Ala)
c.*234T>C (n.*234T>C)
c.1397T>C (p.Val466Ala)
c.1373T>C (p.Val458Ala)
c.1439T>C (p.Val480Ala)
c.956T>C (p.Val319Ala)
c.980T>C (p.Val327Ala)
5g.162153340T>GCA362184151GABRG2c.1401T>G
c.1496T>G (p.Val499Gly)
c.1459T>G
n.654T>G
c.1091T>G (p.Val364Gly)
c.1115T>G (p.Val372Gly)
c.*3997T>G (n.*3997T>G)
c.1277T>G
c.767T>G (p.Val256Gly)
c.1376T>G (p.Val459Gly)
c.1400T>G (p.Val467Gly)
c.2063T>G (n.2063T>G)
c.*1581T>G (n.*1581T>G)
c.*600T>G (n.*600T>G)
c.1334T>G (p.Val445Gly)
c.1310T>G (p.Val437Gly)
n.674T>G
n.6347T>G
c.838T>G
c.1313T>G (p.Val438Gly)
c.1469T>G (p.Val490Gly)
c.1520T>G (p.Val507Gly)
c.*978T>G (n.*978T>G)
c.1497T>G (n.1497T>G)
c.1391T>G (p.Val464Gly)
c.*234T>G (n.*234T>G)
c.1397T>G (p.Val466Gly)
c.1373T>G (p.Val458Gly)
c.1439T>G (p.Val480Gly)
c.956T>G (p.Val319Gly)
c.980T>G (p.Val327Gly)
 ClinVar
5g.162153341C>ACA447692023GABRG2c.1402C>A
c.1497C>A (p.Val499=)
c.1460C>A
n.655C>A
c.1092C>A (p.Val364=)
c.1116C>A (p.Val372=)
c.*3998C>A (n.*3998C>A)
c.1278C>A
c.768C>A (p.Val256=)
c.1377C>A (p.Val459=)
c.1401C>A (p.Val467=)
c.2064C>A (n.2064C>A)
c.*1582C>A (n.*1582C>A)
c.*601C>A (n.*601C>A)
c.1335C>A (p.Val445=)
c.1311C>A (p.Val437=)
n.675C>A
n.6348C>A
c.839C>A
c.1314C>A (p.Val438=)
c.1470C>A (p.Val490=)
c.1521C>A (p.Val507=)
c.*979C>A (n.*979C>A)
c.1498C>A (n.1498C>A)
c.1392C>A (p.Val464=)
c.*235C>A (n.*235C>A)
c.1398C>A (p.Val466=)
c.1374C>A (p.Val458=)
c.1440C>A (p.Val480=)
c.957C>A (p.Val319=)
c.981C>A (p.Val327=)
 COSMIC
5g.162153341C>GCA447692025GABRG2c.1402C>G
c.1497C>G (p.Val499=)
c.1460C>G
n.655C>G
c.1092C>G (p.Val364=)
c.1116C>G (p.Val372=)
c.*3998C>G (n.*3998C>G)
c.1278C>G
c.768C>G (p.Val256=)
c.1377C>G (p.Val459=)
c.1401C>G (p.Val467=)
c.2064C>G (n.2064C>G)
c.*1582C>G (n.*1582C>G)
c.*601C>G (n.*601C>G)
c.1335C>G (p.Val445=)
c.1311C>G (p.Val437=)
n.675C>G
n.6348C>G
c.839C>G
c.1314C>G (p.Val438=)
c.1470C>G (p.Val490=)
c.1521C>G (p.Val507=)
c.*979C>G (n.*979C>G)
c.1498C>G (n.1498C>G)
c.1392C>G (p.Val464=)
c.*235C>G (n.*235C>G)
c.1398C>G (p.Val466=)
c.1374C>G (p.Val458=)
c.1440C>G (p.Val480=)
c.957C>G (p.Val319=)
c.981C>G (p.Val327=)
5g.162153341C>TCA447692027GABRG2c.1402C>T
c.1497C>T (p.Val499=)
c.1460C>T
n.655C>T
c.1092C>T (p.Val364=)
c.1116C>T (p.Val372=)
c.*3998C>T (n.*3998C>T)
c.1278C>T
c.768C>T (p.Val256=)
c.1377C>T (p.Val459=)
c.1401C>T (p.Val467=)
c.2064C>T (n.2064C>T)
c.*1582C>T (n.*1582C>T)
c.*601C>T (n.*601C>T)
c.1335C>T (p.Val445=)
c.1311C>T (p.Val437=)
n.675C>T
n.6348C>T
c.839C>T
c.1314C>T (p.Val438=)
c.1470C>T (p.Val490=)
c.1521C>T (p.Val507=)
c.*979C>T (n.*979C>T)
c.1498C>T (n.1498C>T)
c.1392C>T (p.Val464=)
c.*235C>T (n.*235C>T)
c.1398C>T (p.Val466=)
c.1374C>T (p.Val458=)
c.1440C>T (p.Val480=)
c.957C>T (p.Val319=)
c.981C>T (p.Val327=)
5g.162153342T>ACA362184154GABRG2c.1403T>A
c.1498T>A (p.Tyr500Asn)
c.1461T>A
n.656T>A
c.1093T>A (p.Tyr365Asn)
c.1117T>A (p.Tyr373Asn)
c.*3999T>A (n.*3999T>A)
c.1279T>A
c.769T>A (p.Tyr257Asn)
c.1378T>A (p.Tyr460Asn)
c.1402T>A (p.Tyr468Asn)
c.2065T>A (n.2065T>A)
c.*1583T>A (n.*1583T>A)
c.*602T>A (n.*602T>A)
c.1336T>A (p.Tyr446Asn)
c.1312T>A (p.Tyr438Asn)
n.676T>A
n.6349T>A
c.840T>A
c.1315T>A (p.Tyr439Asn)
c.1471T>A (p.Tyr491Asn)
c.1522T>A (p.Tyr508Asn)
c.*980T>A (n.*980T>A)
c.1499T>A (n.1499T>A)
c.1393T>A (p.Tyr465Asn)
c.*236T>A (n.*236T>A)
c.1399T>A (p.Tyr467Asn)
c.1375T>A (p.Tyr459Asn)
c.1441T>A (p.Tyr481Asn)
c.958T>A (p.Tyr320Asn)
c.982T>A (p.Tyr328Asn)
5g.162153342T>CCA362184156GABRG2c.1403T>C
c.1498T>C (p.Tyr500His)
c.1461T>C
n.656T>C
c.1093T>C (p.Tyr365His)
c.1117T>C (p.Tyr373His)
c.*3999T>C (n.*3999T>C)
c.1279T>C
c.769T>C (p.Tyr257His)
c.1378T>C (p.Tyr460His)
c.1402T>C (p.Tyr468His)
c.2065T>C (n.2065T>C)
c.*1583T>C (n.*1583T>C)
c.*602T>C (n.*602T>C)
c.1336T>C (p.Tyr446His)
c.1312T>C (p.Tyr438His)
n.676T>C
n.6349T>C
c.840T>C
c.1315T>C (p.Tyr439His)
c.1471T>C (p.Tyr491His)
c.1522T>C (p.Tyr508His)
c.*980T>C (n.*980T>C)
c.1499T>C (n.1499T>C)
c.1393T>C (p.Tyr465His)
c.*236T>C (n.*236T>C)
c.1399T>C (p.Tyr467His)
c.1375T>C (p.Tyr459His)
c.1441T>C (p.Tyr481His)
c.958T>C (p.Tyr320His)
c.982T>C (p.Tyr328His)
5g.162153342T>GCA362184158GABRG2c.1403T>G
c.1498T>G (p.Tyr500Asp)
c.1461T>G
n.656T>G
c.1093T>G (p.Tyr365Asp)
c.1117T>G (p.Tyr373Asp)
c.*3999T>G (n.*3999T>G)
c.1279T>G
c.769T>G (p.Tyr257Asp)
c.1378T>G (p.Tyr460Asp)
c.1402T>G (p.Tyr468Asp)
c.2065T>G (n.2065T>G)
c.*1583T>G (n.*1583T>G)
c.*602T>G (n.*602T>G)
c.1336T>G (p.Tyr446Asp)
c.1312T>G (p.Tyr438Asp)
n.676T>G
n.6349T>G
c.840T>G
c.1315T>G (p.Tyr439Asp)
c.1471T>G (p.Tyr491Asp)
c.1522T>G (p.Tyr508Asp)
c.*980T>G (n.*980T>G)
c.1499T>G (n.1499T>G)
c.1393T>G (p.Tyr465Asp)
c.*236T>G (n.*236T>G)
c.1399T>G (p.Tyr467Asp)
c.1375T>G (p.Tyr459Asp)
c.1441T>G (p.Tyr481Asp)
c.958T>G (p.Tyr320Asp)
c.982T>G (p.Tyr328Asp)
5g.162153343A=CA1596382276GABRG2c.1404A=
c.1499A= (p.Tyr500=)
c.1462A=
n.657A=
c.1094A= (p.Tyr365=)
c.1118A= (p.Tyr373=)
c.*4000A= (n.*4000A=)
c.1280A=
c.770A= (p.Tyr257=)
c.1379A= (p.Tyr460=)
c.1403A= (p.Tyr468=)
c.2066A= (n.2066A=)
c.*1584A= (n.*1584A=)
c.*603A= (n.*603A=)
c.1337A= (p.Tyr446=)
c.1313A= (p.Tyr438=)
n.677A=
n.6350A=
c.841A=
c.1316A= (p.Tyr439=)
c.1472A= (p.Tyr491=)
c.1523A= (p.Tyr508=)
c.*981A= (n.*981A=)
c.1500A= (n.1500A=)
c.1394A= (p.Tyr465=)
c.*237A= (n.*237A=)
c.1400A= (p.Tyr467=)
c.1376A= (p.Tyr459=)
c.1442A= (p.Tyr481=)
c.959A= (p.Tyr320=)
c.983A= (p.Tyr328=)
5g.162153343A>CCA362184163GABRG2c.1404A>C
c.1499A>C (p.Tyr500Ser)
c.1462A>C
n.657A>C
c.1094A>C (p.Tyr365Ser)
c.1118A>C (p.Tyr373Ser)
c.*4000A>C (n.*4000A>C)
c.1280A>C
c.770A>C (p.Tyr257Ser)
c.1379A>C (p.Tyr460Ser)
c.1403A>C (p.Tyr468Ser)
c.2066A>C (n.2066A>C)
c.*1584A>C (n.*1584A>C)
c.*603A>C (n.*603A>C)
c.1337A>C (p.Tyr446Ser)
c.1313A>C (p.Tyr438Ser)
n.677A>C
n.6350A>C
c.841A>C
c.1316A>C (p.Tyr439Ser)
c.1472A>C (p.Tyr491Ser)
c.1523A>C (p.Tyr508Ser)
c.*981A>C (n.*981A>C)
c.1500A>C (n.1500A>C)
c.1394A>C (p.Tyr465Ser)
c.*237A>C (n.*237A>C)
c.1400A>C (p.Tyr467Ser)
c.1376A>C (p.Tyr459Ser)
c.1442A>C (p.Tyr481Ser)
c.959A>C (p.Tyr320Ser)
c.983A>C (p.Tyr328Ser)
5g.162153343A>GCA3544997GABRG2c.1404A>G
c.1499A>G (p.Tyr500Cys)
c.1462A>G
n.657A>G
c.1094A>G (p.Tyr365Cys)
c.1118A>G (p.Tyr373Cys)
c.*4000A>G (n.*4000A>G)
c.1280A>G
c.770A>G (p.Tyr257Cys)
c.1379A>G (p.Tyr460Cys)
c.1403A>G (p.Tyr468Cys)
c.2066A>G (n.2066A>G)
c.*1584A>G (n.*1584A>G)
c.*603A>G (n.*603A>G)
c.1337A>G (p.Tyr446Cys)
c.1313A>G (p.Tyr438Cys)
n.677A>G
n.6350A>G
c.841A>G
c.1316A>G (p.Tyr439Cys)
c.1472A>G (p.Tyr491Cys)
c.1523A>G (p.Tyr508Cys)
c.*981A>G (n.*981A>G)
c.1500A>G (n.1500A>G)
c.1394A>G (p.Tyr465Cys)
c.*237A>G (n.*237A>G)
c.1400A>G (p.Tyr467Cys)
c.1376A>G (p.Tyr459Cys)
c.1442A>G (p.Tyr481Cys)
c.959A>G (p.Tyr320Cys)
c.983A>G (p.Tyr328Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.162153343A>TCA362184161GABRG2c.1404A>T
c.1499A>T (p.Tyr500Phe)
c.1462A>T
n.657A>T
c.1094A>T (p.Tyr365Phe)
c.1118A>T (p.Tyr373Phe)
c.*4000A>T (n.*4000A>T)
c.1280A>T
c.770A>T (p.Tyr257Phe)
c.1379A>T (p.Tyr460Phe)
c.1403A>T (p.Tyr468Phe)
c.2066A>T (n.2066A>T)
c.*1584A>T (n.*1584A>T)
c.*603A>T (n.*603A>T)
c.1337A>T (p.Tyr446Phe)
c.1313A>T (p.Tyr438Phe)
n.677A>T
n.6350A>T
c.841A>T
c.1316A>T (p.Tyr439Phe)
c.1472A>T (p.Tyr491Phe)
c.1523A>T (p.Tyr508Phe)
c.*981A>T (n.*981A>T)
c.1500A>T (n.1500A>T)
c.1394A>T (p.Tyr465Phe)
c.*237A>T (n.*237A>T)
c.1400A>T (p.Tyr467Phe)
c.1376A>T (p.Tyr459Phe)
c.1442A>T (p.Tyr481Phe)
c.959A>T (p.Tyr320Phe)
c.983A>T (p.Tyr328Phe)
5g.162153344T>ACA362184165GABRG2c.1405T>A
c.1500T>A (p.Tyr500Ter)
c.1463T>A
n.658T>A
c.1095T>A (p.Tyr365Ter)
c.1119T>A (p.Tyr373Ter)
c.*4001T>A (n.*4001T>A)
c.1281T>A
c.771T>A (p.Tyr257Ter)
c.1380T>A (p.Tyr460Ter)
c.1404T>A (p.Tyr468Ter)
c.2067T>A (n.2067T>A)
c.*1585T>A (n.*1585T>A)
c.*604T>A (n.*604T>A)
c.1338T>A (p.Tyr446Ter)
c.1314T>A (p.Tyr438Ter)
n.678T>A
n.6351T>A
c.842T>A
c.1317T>A (p.Tyr439Ter)
c.1473T>A (p.Tyr491Ter)
c.1524T>A (p.Tyr508Ter)
c.*982T>A (n.*982T>A)
c.1501T>A (n.1501T>A)
c.1395T>A (p.Tyr465Ter)
c.*238T>A (n.*238T>A)
c.1401T>A (p.Tyr467Ter)
c.1377T>A (p.Tyr459Ter)
c.1443T>A (p.Tyr481Ter)
c.960T>A (p.Tyr320Ter)
c.984T>A (p.Tyr328Ter)
5g.162153344T>CCA447692030GABRG2c.1405T>C
c.1500T>C (p.Tyr500=)
c.1463T>C
n.658T>C
c.1095T>C (p.Tyr365=)
c.1119T>C (p.Tyr373=)
c.*4001T>C (n.*4001T>C)
c.1281T>C
c.771T>C (p.Tyr257=)
c.1380T>C (p.Tyr460=)
c.1404T>C (p.Tyr468=)
c.2067T>C (n.2067T>C)
c.*1585T>C (n.*1585T>C)
c.*604T>C (n.*604T>C)
c.1338T>C (p.Tyr446=)
c.1314T>C (p.Tyr438=)
n.678T>C
n.6351T>C
c.842T>C
c.1317T>C (p.Tyr439=)
c.1473T>C (p.Tyr491=)
c.1524T>C (p.Tyr508=)
c.*982T>C (n.*982T>C)
c.1501T>C (n.1501T>C)
c.1395T>C (p.Tyr465=)
c.*238T>C (n.*238T>C)
c.1401T>C (p.Tyr467=)
c.1377T>C (p.Tyr459=)
c.1443T>C (p.Tyr481=)
c.960T>C (p.Tyr320=)
c.984T>C (p.Tyr328=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.162153344T>GCA362184167GABRG2c.1405T>G
c.1500T>G (p.Tyr500Ter)
c.1463T>G
n.658T>G
c.1095T>G (p.Tyr365Ter)
c.1119T>G (p.Tyr373Ter)
c.*4001T>G (n.*4001T>G)
c.1281T>G
c.771T>G (p.Tyr257Ter)
c.1380T>G (p.Tyr460Ter)
c.1404T>G (p.Tyr468Ter)
c.2067T>G (n.2067T>G)
c.*1585T>G (n.*1585T>G)
c.*604T>G (n.*604T>G)
c.1338T>G (p.Tyr446Ter)
c.1314T>G (p.Tyr438Ter)
n.678T>G
n.6351T>G
c.842T>G
c.1317T>G (p.Tyr439Ter)
c.1473T>G (p.Tyr491Ter)
c.1524T>G (p.Tyr508Ter)
c.*982T>G (n.*982T>G)
c.1501T>G (n.1501T>G)
c.1395T>G (p.Tyr465Ter)
c.*238T>G (n.*238T>G)
c.1401T>G (p.Tyr467Ter)
c.1377T>G (p.Tyr459Ter)
c.1443T>G (p.Tyr481Ter)
c.960T>G (p.Tyr320Ter)
c.984T>G (p.Tyr328Ter)
5g.162153344T=CA1596382283GABRG2c.1405T=
c.1500T= (p.Tyr500=)
c.1463T=
n.658T=
c.1095T= (p.Tyr365=)
c.1119T= (p.Tyr373=)
c.*4001T= (n.*4001T=)
c.1281T=
c.771T= (p.Tyr257=)
c.1380T= (p.Tyr460=)
c.1404T= (p.Tyr468=)
c.2067T= (n.2067T=)
c.*1585T= (n.*1585T=)
c.*604T= (n.*604T=)
c.1338T= (p.Tyr446=)
c.1314T= (p.Tyr438=)
n.678T=
n.6351T=
c.842T=
c.1317T= (p.Tyr439=)
c.1473T= (p.Tyr491=)
c.1524T= (p.Tyr508=)
c.*982T= (n.*982T=)
c.1501T= (n.1501T=)
c.1395T= (p.Tyr465=)
c.*238T= (n.*238T=)
c.1401T= (p.Tyr467=)
c.1377T= (p.Tyr459=)
c.1443T= (p.Tyr481=)
c.960T= (p.Tyr320=)
c.984T= (p.Tyr328=)
5g.162153345T>ACA362184169GABRG2c.1406T>A
c.1501T>A (p.Trp501Arg)
c.1464T>A
n.659T>A
c.1096T>A (p.Trp366Arg)
c.1120T>A (p.Trp374Arg)
c.*4002T>A (n.*4002T>A)
c.1282T>A
c.772T>A (p.Trp258Arg)
c.1381T>A (p.Trp461Arg)
c.1405T>A (p.Trp469Arg)
c.2068T>A (n.2068T>A)
c.*1586T>A (n.*1586T>A)
c.*605T>A (n.*605T>A)
c.1339T>A (p.Trp447Arg)
c.1315T>A (p.Trp439Arg)
n.679T>A
n.6352T>A
c.843T>A
c.1318T>A (p.Trp440Arg)
c.1474T>A (p.Trp492Arg)
c.1525T>A (p.Trp509Arg)
c.*983T>A (n.*983T>A)
c.1502T>A (n.1502T>A)
c.1396T>A (p.Trp466Arg)
c.*239T>A (n.*239T>A)
c.1402T>A (p.Trp468Arg)
c.1378T>A (p.Trp460Arg)
c.1444T>A (p.Trp482Arg)
c.961T>A (p.Trp321Arg)
c.985T>A (p.Trp329Arg)
5g.162153345T>CCA362184171GABRG2c.1406T>C
c.1501T>C (p.Trp501Arg)
c.1464T>C
n.659T>C
c.1096T>C (p.Trp366Arg)
c.1120T>C (p.Trp374Arg)
c.*4002T>C (n.*4002T>C)
c.1282T>C
c.772T>C (p.Trp258Arg)
c.1381T>C (p.Trp461Arg)
c.1405T>C (p.Trp469Arg)
c.2068T>C (n.2068T>C)
c.*1586T>C (n.*1586T>C)
c.*605T>C (n.*605T>C)
c.1339T>C (p.Trp447Arg)
c.1315T>C (p.Trp439Arg)
n.679T>C
n.6352T>C
c.843T>C
c.1318T>C (p.Trp440Arg)
c.1474T>C (p.Trp492Arg)
c.1525T>C (p.Trp509Arg)
c.*983T>C (n.*983T>C)
c.1502T>C (n.1502T>C)
c.1396T>C (p.Trp466Arg)
c.*239T>C (n.*239T>C)
c.1402T>C (p.Trp468Arg)
c.1378T>C (p.Trp460Arg)
c.1444T>C (p.Trp482Arg)
c.961T>C (p.Trp321Arg)
c.985T>C (p.Trp329Arg)
 ClinVar dbSNP
5g.162153345T>GCA362184173GABRG2c.1406T>G
c.1501T>G (p.Trp501Gly)
c.1464T>G
n.659T>G
c.1096T>G (p.Trp366Gly)
c.1120T>G (p.Trp374Gly)
c.*4002T>G (n.*4002T>G)
c.1282T>G
c.772T>G (p.Trp258Gly)
c.1381T>G (p.Trp461Gly)
c.1405T>G (p.Trp469Gly)
c.2068T>G (n.2068T>G)
c.*1586T>G (n.*1586T>G)
c.*605T>G (n.*605T>G)
c.1339T>G (p.Trp447Gly)
c.1315T>G (p.Trp439Gly)
n.679T>G
n.6352T>G
c.843T>G
c.1318T>G (p.Trp440Gly)
c.1474T>G (p.Trp492Gly)
c.1525T>G (p.Trp509Gly)
c.*983T>G (n.*983T>G)
c.1502T>G (n.1502T>G)
c.1396T>G (p.Trp466Gly)
c.*239T>G (n.*239T>G)
c.1402T>G (p.Trp468Gly)
c.1378T>G (p.Trp460Gly)
c.1444T>G (p.Trp482Gly)
c.961T>G (p.Trp321Gly)
c.985T>G (p.Trp329Gly)
 gnomAD v4
5g.162153346G>ACA362184176GABRG2c.1407G>A
c.1502G>A (p.Trp501Ter)
c.1465G>A
n.660G>A
c.1097G>A (p.Trp366Ter)
c.1121G>A (p.Trp374Ter)
c.*4003G>A (n.*4003G>A)
c.1283G>A
c.773G>A (p.Trp258Ter)
c.1382G>A (p.Trp461Ter)
c.1406G>A (p.Trp469Ter)
c.2069G>A (n.2069G>A)
c.*1587G>A (n.*1587G>A)
c.*606G>A (n.*606G>A)
c.1340G>A (p.Trp447Ter)
c.1316G>A (p.Trp439Ter)
n.680G>A
n.6353G>A
c.844G>A
c.1319G>A (p.Trp440Ter)
c.1475G>A (p.Trp492Ter)
c.1526G>A (p.Trp509Ter)
c.*984G>A (n.*984G>A)
c.1503G>A (n.1503G>A)
c.1397G>A (p.Trp466Ter)
c.*240G>A (n.*240G>A)
c.1403G>A (p.Trp468Ter)
c.1379G>A (p.Trp460Ter)
c.1445G>A (p.Trp482Ter)
c.962G>A (p.Trp321Ter)
c.986G>A (p.Trp329Ter)
5g.162153346G>CCA362184179GABRG2c.1407G>C
c.1502G>C (p.Trp501Ser)
c.1465G>C
n.660G>C
c.1097G>C (p.Trp366Ser)
c.1121G>C (p.Trp374Ser)
c.*4003G>C (n.*4003G>C)
c.1283G>C
c.773G>C (p.Trp258Ser)
c.1382G>C (p.Trp461Ser)
c.1406G>C (p.Trp469Ser)
c.2069G>C (n.2069G>C)
c.*1587G>C (n.*1587G>C)
c.*606G>C (n.*606G>C)
c.1340G>C (p.Trp447Ser)
c.1316G>C (p.Trp439Ser)
n.680G>C
n.6353G>C
c.844G>C
c.1319G>C (p.Trp440Ser)
c.1475G>C (p.Trp492Ser)
c.1526G>C (p.Trp509Ser)
c.*984G>C (n.*984G>C)
c.1503G>C (n.1503G>C)
c.1397G>C (p.Trp466Ser)
c.*240G>C (n.*240G>C)
c.1403G>C (p.Trp468Ser)
c.1379G>C (p.Trp460Ser)
c.1445G>C (p.Trp482Ser)
c.962G>C (p.Trp321Ser)
c.986G>C (p.Trp329Ser)
5g.162153346G>TCA362184177GABRG2c.1407G>T
c.1502G>T (p.Trp501Leu)
c.1465G>T
n.660G>T
c.1097G>T (p.Trp366Leu)
c.1121G>T (p.Trp374Leu)
c.*4003G>T (n.*4003G>T)
c.1283G>T
c.773G>T (p.Trp258Leu)
c.1382G>T (p.Trp461Leu)
c.1406G>T (p.Trp469Leu)
c.2069G>T (n.2069G>T)
c.*1587G>T (n.*1587G>T)
c.*606G>T (n.*606G>T)
c.1340G>T (p.Trp447Leu)
c.1316G>T (p.Trp439Leu)
n.680G>T
n.6353G>T
c.844G>T
c.1319G>T (p.Trp440Leu)
c.1475G>T (p.Trp492Leu)
c.1526G>T (p.Trp509Leu)
c.*984G>T (n.*984G>T)
c.1503G>T (n.1503G>T)
c.1397G>T (p.Trp466Leu)
c.*240G>T (n.*240G>T)
c.1403G>T (p.Trp468Leu)
c.1379G>T (p.Trp460Leu)
c.1445G>T (p.Trp482Leu)
c.962G>T (p.Trp321Leu)
c.986G>T (p.Trp329Leu)
5g.162153348delCA2695205692GABRG2c.1409del
c.1504del (p.Val502SerfsTer?)
c.1467del
n.662del
c.1099del (p.Val367SerfsTer?)
c.1123del (p.Val375SerfsTer?)
c.*4005del (n.*4005del)
c.1285del
c.775del (p.Val259SerfsTer?)
c.1384del (p.Val462SerfsTer?)
c.1408del (p.Val470SerfsTer?)
c.2071del (n.2071del)
c.*1589del (n.*1589del)
c.*608del (n.*608del)
c.1342del (p.Val448SerfsTer?)
c.1318del (p.Val440SerfsTer?)
n.682del
n.6355del
c.846del
c.1321del (p.Val441SerfsTer?)
c.1477del (p.Val493SerfsTer?)
c.1528del (p.Val510SerfsTer?)
c.*986del (n.*986del)
c.1505del (n.1505del)
c.1399del (p.Val467SerfsTer?)
c.*242del (n.*242del)
c.1405del (p.Val469SerfsTer?)
c.1381del (p.Val461SerfsTer?)
c.1447del (p.Val483SerfsTer?)
c.964del (p.Val322SerfsTer?)
c.988del (p.Val330SerfsTer?)
5g.162153347G>ACA362184180GABRG2c.1408G>A
c.1503G>A (p.Trp501Ter)
c.1466G>A
n.661G>A
c.1098G>A (p.Trp366Ter)
c.1122G>A (p.Trp374Ter)
c.*4004G>A (n.*4004G>A)
c.1284G>A
c.774G>A (p.Trp258Ter)
c.1383G>A (p.Trp461Ter)
c.1407G>A (p.Trp469Ter)
c.2070G>A (n.2070G>A)
c.*1588G>A (n.*1588G>A)
c.*607G>A (n.*607G>A)
c.1341G>A (p.Trp447Ter)
c.1317G>A (p.Trp439Ter)
n.681G>A
n.6354G>A
c.845G>A
c.1320G>A (p.Trp440Ter)
c.1476G>A (p.Trp492Ter)
c.1527G>A (p.Trp509Ter)
c.*985G>A (n.*985G>A)
c.1504G>A (n.1504G>A)
c.1398G>A (p.Trp466Ter)
c.*241G>A (n.*241G>A)
c.1404G>A (p.Trp468Ter)
c.1380G>A (p.Trp460Ter)
c.1446G>A (p.Trp482Ter)
c.963G>A (p.Trp321Ter)
c.987G>A (p.Trp329Ter)
5g.162153347G>CCA362184183GABRG2c.1408G>C
c.1503G>C (p.Trp501Cys)
c.1466G>C
n.661G>C
c.1098G>C (p.Trp366Cys)
c.1122G>C (p.Trp374Cys)
c.*4004G>C (n.*4004G>C)
c.1284G>C
c.774G>C (p.Trp258Cys)
c.1383G>C (p.Trp461Cys)
c.1407G>C (p.Trp469Cys)
c.2070G>C (n.2070G>C)
c.*1588G>C (n.*1588G>C)
c.*607G>C (n.*607G>C)
c.1341G>C (p.Trp447Cys)
c.1317G>C (p.Trp439Cys)
n.681G>C
n.6354G>C
c.845G>C
c.1320G>C (p.Trp440Cys)
c.1476G>C (p.Trp492Cys)
c.1527G>C (p.Trp509Cys)
c.*985G>C (n.*985G>C)
c.1504G>C (n.1504G>C)
c.1398G>C (p.Trp466Cys)
c.*241G>C (n.*241G>C)
c.1404G>C (p.Trp468Cys)
c.1380G>C (p.Trp460Cys)
c.1446G>C (p.Trp482Cys)
c.963G>C (p.Trp321Cys)
c.987G>C (p.Trp329Cys)
5g.162153347G>TCA362184185GABRG2c.1408G>T
c.1503G>T (p.Trp501Cys)
c.1466G>T
n.661G>T
c.1098G>T (p.Trp366Cys)
c.1122G>T (p.Trp374Cys)
c.*4004G>T (n.*4004G>T)
c.1284G>T
c.774G>T (p.Trp258Cys)
c.1383G>T (p.Trp461Cys)
c.1407G>T (p.Trp469Cys)
c.2070G>T (n.2070G>T)
c.*1588G>T (n.*1588G>T)
c.*607G>T (n.*607G>T)
c.1341G>T (p.Trp447Cys)
c.1317G>T (p.Trp439Cys)
n.681G>T
n.6354G>T
c.845G>T
c.1320G>T (p.Trp440Cys)
c.1476G>T (p.Trp492Cys)
c.1527G>T (p.Trp509Cys)
c.*985G>T (n.*985G>T)
c.1504G>T (n.1504G>T)
c.1398G>T (p.Trp466Cys)
c.*241G>T (n.*241G>T)
c.1404G>T (p.Trp468Cys)
c.1380G>T (p.Trp460Cys)
c.1446G>T (p.Trp482Cys)
c.963G>T (p.Trp321Cys)
c.987G>T (p.Trp329Cys)
5g.162153348G>ACA362184188GABRG2c.1409G>A
c.1504G>A (p.Val502Ile)
c.1467G>A
n.662G>A
c.1099G>A (p.Val367Ile)
c.1123G>A (p.Val375Ile)
c.*4005G>A (n.*4005G>A)
c.1285G>A
c.775G>A (p.Val259Ile)
c.1384G>A (p.Val462Ile)
c.1408G>A (p.Val470Ile)
c.2071G>A (n.2071G>A)
c.*1589G>A (n.*1589G>A)
c.*608G>A (n.*608G>A)
c.1342G>A (p.Val448Ile)
c.1318G>A (p.Val440Ile)
n.682G>A
n.6355G>A
c.846G>A
c.1321G>A (p.Val441Ile)
c.1477G>A (p.Val493Ile)
c.1528G>A (p.Val510Ile)
c.*986G>A (n.*986G>A)
c.1505G>A (n.1505G>A)
c.1399G>A (p.Val467Ile)
c.*242G>A (n.*242G>A)
c.1405G>A (p.Val469Ile)
c.1381G>A (p.Val461Ile)
c.1447G>A (p.Val483Ile)
c.964G>A (p.Val322Ile)
c.988G>A (p.Val330Ile)
5g.162153348G>CCA362184190GABRG2c.1409G>C
c.1504G>C (p.Val502Leu)
c.1467G>C
n.662G>C
c.1099G>C (p.Val367Leu)
c.1123G>C (p.Val375Leu)
c.*4005G>C (n.*4005G>C)
c.1285G>C
c.775G>C (p.Val259Leu)
c.1384G>C (p.Val462Leu)
c.1408G>C (p.Val470Leu)
c.2071G>C (n.2071G>C)
c.*1589G>C (n.*1589G>C)
c.*608G>C (n.*608G>C)
c.1342G>C (p.Val448Leu)
c.1318G>C (p.Val440Leu)
n.682G>C
n.6355G>C
c.846G>C
c.1321G>C (p.Val441Leu)
c.1477G>C (p.Val493Leu)
c.1528G>C (p.Val510Leu)
c.*986G>C (n.*986G>C)
c.1505G>C (n.1505G>C)
c.1399G>C (p.Val467Leu)
c.*242G>C (n.*242G>C)
c.1405G>C (p.Val469Leu)
c.1381G>C (p.Val461Leu)
c.1447G>C (p.Val483Leu)
c.964G>C (p.Val322Leu)
c.988G>C (p.Val330Leu)
 dbSNP gnomAD v4
5g.162153348G=CA1596382286GABRG2c.1409G=
c.1504G= (p.Val502=)
c.1467G=
n.662G=
c.1099G= (p.Val367=)
c.1123G= (p.Val375=)
c.*4005G= (n.*4005G=)
c.1285G=
c.775G= (p.Val259=)
c.1384G= (p.Val462=)
c.1408G= (p.Val470=)
c.2071G= (n.2071G=)
c.*1589G= (n.*1589G=)
c.*608G= (n.*608G=)
c.1342G= (p.Val448=)
c.1318G= (p.Val440=)
n.682G=
n.6355G=
c.846G=
c.1321G= (p.Val441=)
c.1477G= (p.Val493=)
c.1528G= (p.Val510=)
c.*986G= (n.*986G=)
c.1505G= (n.1505G=)
c.1399G= (p.Val467=)
c.*242G= (n.*242G=)
c.1405G= (p.Val469=)
c.1381G= (p.Val461=)
c.1447G= (p.Val483=)
c.964G= (p.Val322=)
c.988G= (p.Val330=)
5g.162153348G>TCA362184192GABRG2c.1409G>T
c.1504G>T (p.Val502Phe)
c.1467G>T
n.662G>T
c.1099G>T (p.Val367Phe)
c.1123G>T (p.Val375Phe)
c.*4005G>T (n.*4005G>T)
c.1285G>T
c.775G>T (p.Val259Phe)
c.1384G>T (p.Val462Phe)
c.1408G>T (p.Val470Phe)
c.2071G>T (n.2071G>T)
c.*1589G>T (n.*1589G>T)
c.*608G>T (n.*608G>T)
c.1342G>T (p.Val448Phe)
c.1318G>T (p.Val440Phe)
n.682G>T
n.6355G>T
c.846G>T
c.1321G>T (p.Val441Phe)
c.1477G>T (p.Val493Phe)
c.1528G>T (p.Val510Phe)
c.*986G>T (n.*986G>T)
c.1505G>T (n.1505G>T)
c.1399G>T (p.Val467Phe)
c.*242G>T (n.*242G>T)
c.1405G>T (p.Val469Phe)
c.1381G>T (p.Val461Phe)
c.1447G>T (p.Val483Phe)
c.964G>T (p.Val322Phe)
c.988G>T (p.Val330Phe)
5g.162153349T>ACA362184194GABRG2c.1410T>A
c.1505T>A (p.Val502Asp)
c.1468T>A
n.663T>A
c.1100T>A (p.Val367Asp)
c.1124T>A (p.Val375Asp)
c.*4006T>A (n.*4006T>A)
c.1286T>A
c.776T>A (p.Val259Asp)
c.1385T>A (p.Val462Asp)
c.1409T>A (p.Val470Asp)
c.2072T>A (n.2072T>A)
c.*1590T>A (n.*1590T>A)
c.*609T>A (n.*609T>A)
c.1343T>A (p.Val448Asp)
c.1319T>A (p.Val440Asp)
n.683T>A
n.6356T>A
c.847T>A
c.1322T>A (p.Val441Asp)
c.1478T>A (p.Val493Asp)
c.1529T>A (p.Val510Asp)
c.*987T>A (n.*987T>A)
c.1506T>A (n.1506T>A)
c.1400T>A (p.Val467Asp)
c.*243T>A (n.*243T>A)
c.1406T>A (p.Val469Asp)
c.1382T>A (p.Val461Asp)
c.1448T>A (p.Val483Asp)
c.965T>A (p.Val322Asp)
c.989T>A (p.Val330Asp)
5g.162153349T>CCA362184196GABRG2c.1410T>C
c.1505T>C (p.Val502Ala)
c.1468T>C
n.663T>C
c.1100T>C (p.Val367Ala)
c.1124T>C (p.Val375Ala)
c.*4006T>C (n.*4006T>C)
c.1286T>C
c.776T>C (p.Val259Ala)
c.1385T>C (p.Val462Ala)
c.1409T>C (p.Val470Ala)
c.2072T>C (n.2072T>C)
c.*1590T>C (n.*1590T>C)
c.*609T>C (n.*609T>C)
c.1343T>C (p.Val448Ala)
c.1319T>C (p.Val440Ala)
n.683T>C
n.6356T>C
c.847T>C
c.1322T>C (p.Val441Ala)
c.1478T>C (p.Val493Ala)
c.1529T>C (p.Val510Ala)
c.*987T>C (n.*987T>C)
c.1506T>C (n.1506T>C)
c.1400T>C (p.Val467Ala)
c.*243T>C (n.*243T>C)
c.1406T>C (p.Val469Ala)
c.1382T>C (p.Val461Ala)
c.1448T>C (p.Val483Ala)
c.965T>C (p.Val322Ala)
c.989T>C (p.Val330Ala)
 ClinVar
5g.162153349T>GCA362184198GABRG2c.1410T>G
c.1505T>G (p.Val502Gly)
c.1468T>G
n.663T>G
c.1100T>G (p.Val367Gly)
c.1124T>G (p.Val375Gly)
c.*4006T>G (n.*4006T>G)
c.1286T>G
c.776T>G (p.Val259Gly)
c.1385T>G (p.Val462Gly)
c.1409T>G (p.Val470Gly)
c.2072T>G (n.2072T>G)
c.*1590T>G (n.*1590T>G)
c.*609T>G (n.*609T>G)
c.1343T>G (p.Val448Gly)
c.1319T>G (p.Val440Gly)
n.683T>G
n.6356T>G
c.847T>G
c.1322T>G (p.Val441Gly)
c.1478T>G (p.Val493Gly)
c.1529T>G (p.Val510Gly)
c.*987T>G (n.*987T>G)
c.1506T>G (n.1506T>G)
c.1400T>G (p.Val467Gly)
c.*243T>G (n.*243T>G)
c.1406T>G (p.Val469Gly)
c.1382T>G (p.Val461Gly)
c.1448T>G (p.Val483Gly)
c.965T>G (p.Val322Gly)
c.989T>G (p.Val330Gly)
5g.162153350C>ACA447692033GABRG2c.1411C>A
c.1506C>A (p.Val502=)
c.1469C>A
n.664C>A
c.1101C>A (p.Val367=)
c.1125C>A (p.Val375=)
c.*4007C>A (n.*4007C>A)
c.1287C>A
c.777C>A (p.Val259=)
c.1386C>A (p.Val462=)
c.1410C>A (p.Val470=)
c.2073C>A (n.2073C>A)
c.*1591C>A (n.*1591C>A)
c.*610C>A (n.*610C>A)
c.1344C>A (p.Val448=)
c.1320C>A (p.Val440=)
n.684C>A
n.6357C>A
c.848C>A
c.1323C>A (p.Val441=)
c.1479C>A (p.Val493=)
c.1530C>A (p.Val510=)
c.*988C>A (n.*988C>A)
c.1507C>A (n.1507C>A)
c.1401C>A (p.Val467=)
c.*244C>A (n.*244C>A)
c.1407C>A (p.Val469=)
c.1383C>A (p.Val461=)
c.1449C>A (p.Val483=)
c.966C>A (p.Val322=)
c.990C>A (p.Val330=)
 gnomAD v4
5g.162153350C>GCA447692035GABRG2c.1411C>G
c.1506C>G (p.Val502=)
c.1469C>G
n.664C>G
c.1101C>G (p.Val367=)
c.1125C>G (p.Val375=)
c.*4007C>G (n.*4007C>G)
c.1287C>G
c.777C>G (p.Val259=)
c.1386C>G (p.Val462=)
c.1410C>G (p.Val470=)
c.2073C>G (n.2073C>G)
c.*1591C>G (n.*1591C>G)
c.*610C>G (n.*610C>G)
c.1344C>G (p.Val448=)
c.1320C>G (p.Val440=)
n.684C>G
n.6357C>G
c.848C>G
c.1323C>G (p.Val441=)
c.1479C>G (p.Val493=)
c.1530C>G (p.Val510=)
c.*988C>G (n.*988C>G)
c.1507C>G (n.1507C>G)
c.1401C>G (p.Val467=)
c.*244C>G (n.*244C>G)
c.1407C>G (p.Val469=)
c.1383C>G (p.Val461=)
c.1449C>G (p.Val483=)
c.966C>G (p.Val322=)
c.990C>G (p.Val330=)
5g.162153350C>TCA447692037GABRG2c.1411C>T
c.1506C>T (p.Val502=)
c.1469C>T
n.664C>T
c.1101C>T (p.Val367=)
c.1125C>T (p.Val375=)
c.*4007C>T (n.*4007C>T)
c.1287C>T
c.777C>T (p.Val259=)
c.1386C>T (p.Val462=)
c.1410C>T (p.Val470=)
c.2073C>T (n.2073C>T)
c.*1591C>T (n.*1591C>T)
c.*610C>T (n.*610C>T)
c.1344C>T (p.Val448=)
c.1320C>T (p.Val440=)
n.684C>T
n.6357C>T
c.848C>T
c.1323C>T (p.Val441=)
c.1479C>T (p.Val493=)
c.1530C>T (p.Val510=)
c.*988C>T (n.*988C>T)
c.1507C>T (n.1507C>T)
c.1401C>T (p.Val467=)
c.*244C>T (n.*244C>T)
c.1407C>T (p.Val469=)
c.1383C>T (p.Val461=)
c.1449C>T (p.Val483=)
c.966C>T (p.Val322=)
c.990C>T (p.Val330=)
 gnomAD v4
5g.162153351T>ACA362184201GABRG2c.1412T>A
c.1507T>A (p.Ser503Thr)
c.1470T>A
n.665T>A
c.1102T>A (p.Ser368Thr)
c.1126T>A (p.Ser376Thr)
c.*4008T>A (n.*4008T>A)
c.1288T>A
c.778T>A (p.Ser260Thr)
c.1387T>A (p.Ser463Thr)
c.1411T>A (p.Ser471Thr)
c.2074T>A (n.2074T>A)
c.*1592T>A (n.*1592T>A)
c.*611T>A (n.*611T>A)
c.1345T>A (p.Ser449Thr)
c.1321T>A (p.Ser441Thr)
n.685T>A
n.6358T>A
c.849T>A
c.1324T>A (p.Ser442Thr)
c.1480T>A (p.Ser494Thr)
c.1531T>A (p.Ser511Thr)
c.*989T>A (n.*989T>A)
c.1508T>A (n.1508T>A)
c.1402T>A (p.Ser468Thr)
c.*245T>A (n.*245T>A)
c.1408T>A (p.Ser470Thr)
c.1384T>A (p.Ser462Thr)
c.1450T>A (p.Ser484Thr)
c.967T>A (p.Ser323Thr)
c.991T>A (p.Ser331Thr)
5g.162153351T>CCA3544998GABRG2c.1412T>C
c.1507T>C (p.Ser503Pro)
c.1470T>C
n.665T>C
c.1102T>C (p.Ser368Pro)
c.1126T>C (p.Ser376Pro)
c.*4008T>C (n.*4008T>C)
c.1288T>C
c.778T>C (p.Ser260Pro)
c.1387T>C (p.Ser463Pro)
c.1411T>C (p.Ser471Pro)
c.2074T>C (n.2074T>C)
c.*1592T>C (n.*1592T>C)
c.*611T>C (n.*611T>C)
c.1345T>C (p.Ser449Pro)
c.1321T>C (p.Ser441Pro)
n.685T>C
n.6358T>C
c.849T>C
c.1324T>C (p.Ser442Pro)
c.1480T>C (p.Ser494Pro)
c.1531T>C (p.Ser511Pro)
c.*989T>C (n.*989T>C)
c.1508T>C (n.1508T>C)
c.1402T>C (p.Ser468Pro)
c.*245T>C (n.*245T>C)
c.1408T>C (p.Ser470Pro)
c.1384T>C (p.Ser462Pro)
c.1450T>C (p.Ser484Pro)
c.967T>C (p.Ser323Pro)
c.991T>C (p.Ser331Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.162153351T>GCA362184212GABRG2c.1412T>G
c.1507T>G (p.Ser503Ala)
c.1470T>G
n.665T>G
c.1102T>G (p.Ser368Ala)
c.1126T>G (p.Ser376Ala)
c.*4008T>G (n.*4008T>G)
c.1288T>G
c.778T>G (p.Ser260Ala)
c.1387T>G (p.Ser463Ala)
c.1411T>G (p.Ser471Ala)
c.2074T>G (n.2074T>G)
c.*1592T>G (n.*1592T>G)
c.*611T>G (n.*611T>G)
c.1345T>G (p.Ser449Ala)
c.1321T>G (p.Ser441Ala)
n.685T>G
n.6358T>G
c.849T>G
c.1324T>G (p.Ser442Ala)
c.1480T>G (p.Ser494Ala)
c.1531T>G (p.Ser511Ala)
c.*989T>G (n.*989T>G)
c.1508T>G (n.1508T>G)
c.1402T>G (p.Ser468Ala)
c.*245T>G (n.*245T>G)
c.1408T>G (p.Ser470Ala)
c.1384T>G (p.Ser462Ala)
c.1450T>G (p.Ser484Ala)
c.967T>G (p.Ser323Ala)
c.991T>G (p.Ser331Ala)
5g.162153351T=CA1596382289GABRG2c.1412T=
c.1507T= (p.Ser503=)
c.1470T=
n.665T=
c.1102T= (p.Ser368=)
c.1126T= (p.Ser376=)
c.*4008T= (n.*4008T=)
c.1288T=
c.778T= (p.Ser260=)
c.1387T= (p.Ser463=)
c.1411T= (p.Ser471=)
c.2074T= (n.2074T=)
c.*1592T= (n.*1592T=)
c.*611T= (n.*611T=)
c.1345T= (p.Ser449=)
c.1321T= (p.Ser441=)
n.685T=
n.6358T=
c.849T=
c.1324T= (p.Ser442=)
c.1480T= (p.Ser494=)
c.1531T= (p.Ser511=)
c.*989T= (n.*989T=)
c.1508T= (n.1508T=)
c.1402T= (p.Ser468=)
c.*245T= (n.*245T=)
c.1408T= (p.Ser470=)
c.1384T= (p.Ser462=)
c.1450T= (p.Ser484=)
c.967T= (p.Ser323=)
c.991T= (p.Ser331=)
5g.162153352C>ACA362184218GABRG2c.1413C>A
c.1508C>A (p.Ser503Tyr)
c.1471C>A
n.666C>A
c.1103C>A (p.Ser368Tyr)
c.1127C>A (p.Ser376Tyr)
c.*4009C>A (n.*4009C>A)
c.1289C>A
c.779C>A (p.Ser260Tyr)
c.1388C>A (p.Ser463Tyr)
c.1412C>A (p.Ser471Tyr)
c.2075C>A (n.2075C>A)
c.*1593C>A (n.*1593C>A)
c.*612C>A (n.*612C>A)
c.1346C>A (p.Ser449Tyr)
c.1322C>A (p.Ser441Tyr)
n.686C>A
n.6359C>A
c.850C>A
c.1325C>A (p.Ser442Tyr)
c.1481C>A (p.Ser494Tyr)
c.1532C>A (p.Ser511Tyr)
c.*990C>A (n.*990C>A)
c.1509C>A (n.1509C>A)
c.1403C>A (p.Ser468Tyr)
c.*246C>A (n.*246C>A)
c.1409C>A (p.Ser470Tyr)
c.1385C>A (p.Ser462Tyr)
c.1451C>A (p.Ser484Tyr)
c.968C>A (p.Ser323Tyr)
c.992C>A (p.Ser331Tyr)
5g.162153352C>GCA362184220GABRG2c.1413C>G
c.1508C>G (p.Ser503Cys)
c.1471C>G
n.666C>G
c.1103C>G (p.Ser368Cys)
c.1127C>G (p.Ser376Cys)
c.*4009C>G (n.*4009C>G)
c.1289C>G
c.779C>G (p.Ser260Cys)
c.1388C>G (p.Ser463Cys)
c.1412C>G (p.Ser471Cys)
c.2075C>G (n.2075C>G)
c.*1593C>G (n.*1593C>G)
c.*612C>G (n.*612C>G)
c.1346C>G (p.Ser449Cys)
c.1322C>G (p.Ser441Cys)
n.686C>G
n.6359C>G
c.850C>G
c.1325C>G (p.Ser442Cys)
c.1481C>G (p.Ser494Cys)
c.1532C>G (p.Ser511Cys)
c.*990C>G (n.*990C>G)
c.1509C>G (n.1509C>G)
c.1403C>G (p.Ser468Cys)
c.*246C>G (n.*246C>G)
c.1409C>G (p.Ser470Cys)
c.1385C>G (p.Ser462Cys)
c.1451C>G (p.Ser484Cys)
c.968C>G (p.Ser323Cys)
c.992C>G (p.Ser331Cys)
 COSMIC
5g.162153352C>TCA362184215GABRG2c.1413C>T
c.1508C>T (p.Ser503Phe)
c.1471C>T
n.666C>T
c.1103C>T (p.Ser368Phe)
c.1127C>T (p.Ser376Phe)
c.*4009C>T (n.*4009C>T)
c.1289C>T
c.779C>T (p.Ser260Phe)
c.1388C>T (p.Ser463Phe)
c.1412C>T (p.Ser471Phe)
c.2075C>T (n.2075C>T)
c.*1593C>T (n.*1593C>T)
c.*612C>T (n.*612C>T)
c.1346C>T (p.Ser449Phe)
c.1322C>T (p.Ser441Phe)
n.686C>T
n.6359C>T
c.850C>T
c.1325C>T (p.Ser442Phe)
c.1481C>T (p.Ser494Phe)
c.1532C>T (p.Ser511Phe)
c.*990C>T (n.*990C>T)
c.1509C>T (n.1509C>T)
c.1403C>T (p.Ser468Phe)
c.*246C>T (n.*246C>T)
c.1409C>T (p.Ser470Phe)
c.1385C>T (p.Ser462Phe)
c.1451C>T (p.Ser484Phe)
c.968C>T (p.Ser323Phe)
c.992C>T (p.Ser331Phe)
 gnomAD v4
5g.162153353C>ACA447692041GABRG2c.1414C>A
c.1509C>A (p.Ser503=)
c.1472C>A
n.667C>A
c.1104C>A (p.Ser368=)
c.1128C>A (p.Ser376=)
c.*4010C>A (n.*4010C>A)
c.1290C>A
c.780C>A (p.Ser260=)
c.1389C>A (p.Ser463=)
c.1413C>A (p.Ser471=)
c.2076C>A (n.2076C>A)
c.*1594C>A (n.*1594C>A)
c.*613C>A (n.*613C>A)
c.1347C>A (p.Ser449=)
c.1323C>A (p.Ser441=)
n.687C>A
n.6360C>A
c.851C>A
c.1326C>A (p.Ser442=)
c.1482C>A (p.Ser494=)
c.1533C>A (p.Ser511=)
c.*991C>A (n.*991C>A)
c.1510C>A (n.1510C>A)
c.1404C>A (p.Ser468=)
c.*247C>A (n.*247C>A)
c.1410C>A (p.Ser470=)
c.1386C>A (p.Ser462=)
c.1452C>A (p.Ser484=)
c.969C>A (p.Ser323=)
c.993C>A (p.Ser331=)
5g.162153353C=CA1596382293GABRG2c.1414C=
c.1509C= (p.Ser503=)
c.1472C=
n.667C=
c.1104C= (p.Ser368=)
c.1128C= (p.Ser376=)
c.*4010C= (n.*4010C=)
c.1290C=
c.780C= (p.Ser260=)
c.1389C= (p.Ser463=)
c.1413C= (p.Ser471=)
c.2076C= (n.2076C=)
c.*1594C= (n.*1594C=)
c.*613C= (n.*613C=)
c.1347C= (p.Ser449=)
c.1323C= (p.Ser441=)
n.687C=
n.6360C=
c.851C=
c.1326C= (p.Ser442=)
c.1482C= (p.Ser494=)
c.1533C= (p.Ser511=)
c.*991C= (n.*991C=)
c.1510C= (n.1510C=)
c.1404C= (p.Ser468=)
c.*247C= (n.*247C=)
c.1410C= (p.Ser470=)
c.1386C= (p.Ser462=)
c.1452C= (p.Ser484=)
c.969C= (p.Ser323=)
c.993C= (p.Ser331=)
5g.162153353C>GCA447692040GABRG2c.1414C>G
c.1509C>G (p.Ser503=)
c.1472C>G
n.667C>G
c.1104C>G (p.Ser368=)
c.1128C>G (p.Ser376=)
c.*4010C>G (n.*4010C>G)
c.1290C>G
c.780C>G (p.Ser260=)
c.1389C>G (p.Ser463=)
c.1413C>G (p.Ser471=)
c.2076C>G (n.2076C>G)
c.*1594C>G (n.*1594C>G)
c.*613C>G (n.*613C>G)
c.1347C>G (p.Ser449=)
c.1323C>G (p.Ser441=)
n.687C>G
n.6360C>G
c.851C>G
c.1326C>G (p.Ser442=)
c.1482C>G (p.Ser494=)
c.1533C>G (p.Ser511=)
c.*991C>G (n.*991C>G)
c.1510C>G (n.1510C>G)
c.1404C>G (p.Ser468=)
c.*247C>G (n.*247C>G)
c.1410C>G (p.Ser470=)
c.1386C>G (p.Ser462=)
c.1452C>G (p.Ser484=)
c.969C>G (p.Ser323=)
c.993C>G (p.Ser331=)
5g.162153353C>TCA3544999GABRG2c.1414C>T
c.1509C>T (p.Ser503=)
c.1472C>T
n.667C>T
c.1104C>T (p.Ser368=)
c.1128C>T (p.Ser376=)
c.*4010C>T (n.*4010C>T)
c.1290C>T
c.780C>T (p.Ser260=)
c.1389C>T (p.Ser463=)
c.1413C>T (p.Ser471=)
c.2076C>T (n.2076C>T)
c.*1594C>T (n.*1594C>T)
c.*613C>T (n.*613C>T)
c.1347C>T (p.Ser449=)
c.1323C>T (p.Ser441=)
n.687C>T
n.6360C>T
c.851C>T
c.1326C>T (p.Ser442=)
c.1482C>T (p.Ser494=)
c.1533C>T (p.Ser511=)
c.*991C>T (n.*991C>T)
c.1510C>T (n.1510C>T)
c.1404C>T (p.Ser468=)
c.*247C>T (n.*247C>T)
c.1410C>T (p.Ser470=)
c.1386C>T (p.Ser462=)
c.1452C>T (p.Ser484=)
c.969C>T (p.Ser323=)
c.993C>T (p.Ser331=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.162153354T>ACA362184225GABRG2c.1415T>A
c.1510T>A (p.Tyr504Asn)
c.1473T>A
n.668T>A
c.1105T>A (p.Tyr369Asn)
c.1129T>A (p.Tyr377Asn)
c.*4011T>A (n.*4011T>A)
c.1291T>A
c.781T>A (p.Tyr261Asn)
c.1390T>A (p.Tyr464Asn)
c.1414T>A (p.Tyr472Asn)
c.2077T>A (n.2077T>A)
c.*1595T>A (n.*1595T>A)
c.*614T>A (n.*614T>A)
c.1348T>A (p.Tyr450Asn)
c.1324T>A (p.Tyr442Asn)
n.688T>A
n.6361T>A
c.852T>A
c.1327T>A (p.Tyr443Asn)
c.1483T>A (p.Tyr495Asn)
c.1534T>A (p.Tyr512Asn)
c.*992T>A (n.*992T>A)
c.1511T>A (n.1511T>A)
c.1405T>A (p.Tyr469Asn)
c.*248T>A (n.*248T>A)
c.1411T>A (p.Tyr471Asn)
c.1387T>A (p.Tyr463Asn)
c.1453T>A (p.Tyr485Asn)
c.970T>A (p.Tyr324Asn)
c.994T>A (p.Tyr332Asn)
5g.162153354T>CCA362184223GABRG2c.1415T>C
c.1510T>C (p.Tyr504His)
c.1473T>C
n.668T>C
c.1105T>C (p.Tyr369His)
c.1129T>C (p.Tyr377His)
c.*4011T>C (n.*4011T>C)
c.1291T>C
c.781T>C (p.Tyr261His)
c.1390T>C (p.Tyr464His)
c.1414T>C (p.Tyr472His)
c.2077T>C (n.2077T>C)
c.*1595T>C (n.*1595T>C)
c.*614T>C (n.*614T>C)
c.1348T>C (p.Tyr450His)
c.1324T>C (p.Tyr442His)
n.688T>C
n.6361T>C
c.852T>C
c.1327T>C (p.Tyr443His)
c.1483T>C (p.Tyr495His)
c.1534T>C (p.Tyr512His)
c.*992T>C (n.*992T>C)
c.1511T>C (n.1511T>C)
c.1405T>C (p.Tyr469His)
c.*248T>C (n.*248T>C)
c.1411T>C (p.Tyr471His)
c.1387T>C (p.Tyr463His)
c.1453T>C (p.Tyr485His)
c.970T>C (p.Tyr324His)
c.994T>C (p.Tyr332His)
 COSMIC
5g.162153354T>GCA362184227GABRG2c.1415T>G
c.1510T>G (p.Tyr504Asp)
c.1473T>G
n.668T>G
c.1105T>G (p.Tyr369Asp)
c.1129T>G (p.Tyr377Asp)
c.*4011T>G (n.*4011T>G)
c.1291T>G
c.781T>G (p.Tyr261Asp)
c.1390T>G (p.Tyr464Asp)
c.1414T>G (p.Tyr472Asp)
c.2077T>G (n.2077T>G)
c.*1595T>G (n.*1595T>G)
c.*614T>G (n.*614T>G)
c.1348T>G (p.Tyr450Asp)
c.1324T>G (p.Tyr442Asp)
n.688T>G
n.6361T>G
c.852T>G
c.1327T>G (p.Tyr443Asp)
c.1483T>G (p.Tyr495Asp)
c.1534T>G (p.Tyr512Asp)
c.*992T>G (n.*992T>G)
c.1511T>G (n.1511T>G)
c.1405T>G (p.Tyr469Asp)
c.*248T>G (n.*248T>G)
c.1411T>G (p.Tyr471Asp)
c.1387T>G (p.Tyr463Asp)
c.1453T>G (p.Tyr485Asp)
c.970T>G (p.Tyr324Asp)
c.994T>G (p.Tyr332Asp)
5g.162153354T=CA1596382300GABRG2c.1415T=
c.1510T= (p.Tyr504=)
c.1473T=
n.668T=
c.1105T= (p.Tyr369=)
c.1129T= (p.Tyr377=)
c.*4011T= (n.*4011T=)
c.1291T=
c.781T= (p.Tyr261=)
c.1390T= (p.Tyr464=)
c.1414T= (p.Tyr472=)
c.2077T= (n.2077T=)
c.*1595T= (n.*1595T=)
c.*614T= (n.*614T=)
c.1348T= (p.Tyr450=)
c.1324T= (p.Tyr442=)
n.688T=
n.6361T=
c.852T=
c.1327T= (p.Tyr443=)
c.1483T= (p.Tyr495=)
c.1534T= (p.Tyr512=)
c.*992T= (n.*992T=)
c.1511T= (n.1511T=)
c.1405T= (p.Tyr469=)
c.*248T= (n.*248T=)
c.1411T= (p.Tyr471=)
c.1387T= (p.Tyr463=)
c.1453T= (p.Tyr485=)
c.970T= (p.Tyr324=)
c.994T= (p.Tyr332=)
5g.162153355A>CCA362184229GABRG2c.1416A>C
c.1511A>C (p.Tyr504Ser)
c.1474A>C
n.669A>C
c.1106A>C (p.Tyr369Ser)
c.1130A>C (p.Tyr377Ser)
c.*4012A>C (n.*4012A>C)
c.1292A>C
c.782A>C (p.Tyr261Ser)
c.1391A>C (p.Tyr464Ser)
c.1415A>C (p.Tyr472Ser)
c.2078A>C (n.2078A>C)
c.*1596A>C (n.*1596A>C)
c.*615A>C (n.*615A>C)
c.1349A>C (p.Tyr450Ser)
c.1325A>C (p.Tyr442Ser)
n.689A>C
n.6362A>C
c.853A>C
c.1328A>C (p.Tyr443Ser)
c.1484A>C (p.Tyr495Ser)
c.1535A>C (p.Tyr512Ser)
c.*993A>C (n.*993A>C)
c.1512A>C (n.1512A>C)
c.1406A>C (p.Tyr469Ser)
c.*249A>C (n.*249A>C)
c.1412A>C (p.Tyr471Ser)
c.1388A>C (p.Tyr463Ser)
c.1454A>C (p.Tyr485Ser)
c.971A>C (p.Tyr324Ser)
c.995A>C (p.Tyr332Ser)
5g.162153355A>GCA362184233GABRG2c.1416A>G
c.1511A>G (p.Tyr504Cys)
c.1474A>G
n.669A>G
c.1106A>G (p.Tyr369Cys)
c.1130A>G (p.Tyr377Cys)
c.*4012A>G (n.*4012A>G)
c.1292A>G
c.782A>G (p.Tyr261Cys)
c.1391A>G (p.Tyr464Cys)
c.1415A>G (p.Tyr472Cys)
c.2078A>G (n.2078A>G)
c.*1596A>G (n.*1596A>G)
c.*615A>G (n.*615A>G)
c.1349A>G (p.Tyr450Cys)
c.1325A>G (p.Tyr442Cys)
n.689A>G
n.6362A>G
c.853A>G
c.1328A>G (p.Tyr443Cys)
c.1484A>G (p.Tyr495Cys)
c.1535A>G (p.Tyr512Cys)
c.*993A>G (n.*993A>G)
c.1512A>G (n.1512A>G)
c.1406A>G (p.Tyr469Cys)
c.*249A>G (n.*249A>G)
c.1412A>G (p.Tyr471Cys)
c.1388A>G (p.Tyr463Cys)
c.1454A>G (p.Tyr485Cys)
c.971A>G (p.Tyr324Cys)
c.995A>G (p.Tyr332Cys)
5g.162153355A>TCA362184231GABRG2c.1416A>T
c.1511A>T (p.Tyr504Phe)
c.1474A>T
n.669A>T
c.1106A>T (p.Tyr369Phe)
c.1130A>T (p.Tyr377Phe)
c.*4012A>T (n.*4012A>T)
c.1292A>T
c.782A>T (p.Tyr261Phe)
c.1391A>T (p.Tyr464Phe)
c.1415A>T (p.Tyr472Phe)
c.2078A>T (n.2078A>T)
c.*1596A>T (n.*1596A>T)
c.*615A>T (n.*615A>T)
c.1349A>T (p.Tyr450Phe)
c.1325A>T (p.Tyr442Phe)
n.689A>T
n.6362A>T
c.853A>T
c.1328A>T (p.Tyr443Phe)
c.1484A>T (p.Tyr495Phe)
c.1535A>T (p.Tyr512Phe)
c.*993A>T (n.*993A>T)
c.1512A>T (n.1512A>T)
c.1406A>T (p.Tyr469Phe)
c.*249A>T (n.*249A>T)
c.1412A>T (p.Tyr471Phe)
c.1388A>T (p.Tyr463Phe)
c.1454A>T (p.Tyr485Phe)
c.971A>T (p.Tyr324Phe)
c.995A>T (p.Tyr332Phe)
5g.162153355dupCA564438697GABRG2c.1416dup
c.1511dup (p.Tyr504Ter)
c.1474dup
n.669dup
c.1106dup (p.Tyr369Ter)
c.1130dup (p.Tyr377Ter)
c.*4012dup (n.*4012dup)
c.1292dup
c.782dup (p.Tyr261Ter)
c.1391dup (p.Tyr464Ter)
c.1415dup (p.Tyr472Ter)
c.2078dup (n.2078dup)
c.*1596dup (n.*1596dup)
c.*615dup (n.*615dup)
c.1349dup (p.Tyr450Ter)
c.1325dup (p.Tyr442Ter)
n.689dup
n.6362dup
c.853dup
c.1328dup (p.Tyr443Ter)
c.1484dup (p.Tyr495Ter)
c.1535dup (p.Tyr512Ter)
c.*993dup (n.*993dup)
c.1512dup (n.1512dup)
c.1406dup (p.Tyr469Ter)
c.*249dup (n.*249dup)
c.1412dup (p.Tyr471Ter)
c.1388dup (p.Tyr463Ter)
c.1454dup (p.Tyr485Ter)
c.971dup (p.Tyr324Ter)
c.995dup (p.Tyr332Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.162153356C>ACA362184235GABRG2c.1417C>A
c.1512C>A (p.Tyr504Ter)
c.1475C>A
n.670C>A
c.1107C>A (p.Tyr369Ter)
c.1131C>A (p.Tyr377Ter)
c.*4013C>A (n.*4013C>A)
c.1293C>A
c.783C>A (p.Tyr261Ter)
c.1392C>A (p.Tyr464Ter)
c.1416C>A (p.Tyr472Ter)
c.2079C>A (n.2079C>A)
c.*1597C>A (n.*1597C>A)
c.*616C>A (n.*616C>A)
c.1350C>A (p.Tyr450Ter)
c.1326C>A (p.Tyr442Ter)
n.690C>A
n.6363C>A
c.854C>A
c.1329C>A (p.Tyr443Ter)
c.1485C>A (p.Tyr495Ter)
c.1536C>A (p.Tyr512Ter)
c.*994C>A (n.*994C>A)
c.1513C>A (n.1513C>A)
c.1407C>A (p.Tyr469Ter)
c.*250C>A (n.*250C>A)
c.1413C>A (p.Tyr471Ter)
c.1389C>A (p.Tyr463Ter)
c.1455C>A (p.Tyr485Ter)
c.972C>A (p.Tyr324Ter)
c.996C>A (p.Tyr332Ter)
5g.162153356C>GCA362184237GABRG2c.1417C>G
c.1512C>G (p.Tyr504Ter)
c.1475C>G
n.670C>G
c.1107C>G (p.Tyr369Ter)
c.1131C>G (p.Tyr377Ter)
c.*4013C>G (n.*4013C>G)
c.1293C>G
c.783C>G (p.Tyr261Ter)
c.1392C>G (p.Tyr464Ter)
c.1416C>G (p.Tyr472Ter)
c.2079C>G (n.2079C>G)
c.*1597C>G (n.*1597C>G)
c.*616C>G (n.*616C>G)
c.1350C>G (p.Tyr450Ter)
c.1326C>G (p.Tyr442Ter)
n.690C>G
n.6363C>G
c.854C>G
c.1329C>G (p.Tyr443Ter)
c.1485C>G (p.Tyr495Ter)
c.1536C>G (p.Tyr512Ter)
c.*994C>G (n.*994C>G)
c.1513C>G (n.1513C>G)
c.1407C>G (p.Tyr469Ter)
c.*250C>G (n.*250C>G)
c.1413C>G (p.Tyr471Ter)
c.1389C>G (p.Tyr463Ter)
c.1455C>G (p.Tyr485Ter)
c.972C>G (p.Tyr324Ter)
c.996C>G (p.Tyr332Ter)
5g.162153356C>TCA447692044GABRG2c.1417C>T
c.1512C>T (p.Tyr504=)
c.1475C>T
n.670C>T
c.1107C>T (p.Tyr369=)
c.1131C>T (p.Tyr377=)
c.*4013C>T (n.*4013C>T)
c.1293C>T
c.783C>T (p.Tyr261=)
c.1392C>T (p.Tyr464=)
c.1416C>T (p.Tyr472=)
c.2079C>T (n.2079C>T)
c.*1597C>T (n.*1597C>T)
c.*616C>T (n.*616C>T)
c.1350C>T (p.Tyr450=)
c.1326C>T (p.Tyr442=)
n.690C>T
n.6363C>T
c.854C>T
c.1329C>T (p.Tyr443=)
c.1485C>T (p.Tyr495=)
c.1536C>T (p.Tyr512=)
c.*994C>T (n.*994C>T)
c.1513C>T (n.1513C>T)
c.1407C>T (p.Tyr469=)
c.*250C>T (n.*250C>T)
c.1413C>T (p.Tyr471=)
c.1389C>T (p.Tyr463=)
c.1455C>T (p.Tyr485=)
c.972C>T (p.Tyr324=)
c.996C>T (p.Tyr332=)
5g.162153357C>ACA362184239GABRG2c.1418C>A
c.1513C>A (p.Leu505Ile)
c.1476C>A
n.671C>A
c.1108C>A (p.Leu370Ile)
c.1132C>A (p.Leu378Ile)
c.*4014C>A (n.*4014C>A)
c.1294C>A
c.784C>A (p.Leu262Ile)
c.1393C>A (p.Leu465Ile)
c.1417C>A (p.Leu473Ile)
c.2080C>A (n.2080C>A)
c.*1598C>A (n.*1598C>A)
c.*617C>A (n.*617C>A)
c.1351C>A (p.Leu451Ile)
c.1327C>A (p.Leu443Ile)
n.691C>A
n.6364C>A
c.855C>A
c.1330C>A (p.Leu444Ile)
c.1486C>A (p.Leu496Ile)
c.1537C>A (p.Leu513Ile)
c.*995C>A (n.*995C>A)
c.1514C>A (n.1514C>A)
c.1408C>A (p.Leu470Ile)
c.*251C>A (n.*251C>A)
c.1414C>A (p.Leu472Ile)
c.1390C>A (p.Leu464Ile)
c.1456C>A (p.Leu486Ile)
c.973C>A (p.Leu325Ile)
c.997C>A (p.Leu333Ile)
5g.162153357C>GCA362184241GABRG2c.1418C>G
c.1513C>G (p.Leu505Val)
c.1476C>G
n.671C>G
c.1108C>G (p.Leu370Val)
c.1132C>G (p.Leu378Val)
c.*4014C>G (n.*4014C>G)
c.1294C>G
c.784C>G (p.Leu262Val)
c.1393C>G (p.Leu465Val)
c.1417C>G (p.Leu473Val)
c.2080C>G (n.2080C>G)
c.*1598C>G (n.*1598C>G)
c.*617C>G (n.*617C>G)
c.1351C>G (p.Leu451Val)
c.1327C>G (p.Leu443Val)
n.691C>G
n.6364C>G
c.855C>G
c.1330C>G (p.Leu444Val)
c.1486C>G (p.Leu496Val)
c.1537C>G (p.Leu513Val)
c.*995C>G (n.*995C>G)
c.1514C>G (n.1514C>G)
c.1408C>G (p.Leu470Val)
c.*251C>G (n.*251C>G)
c.1414C>G (p.Leu472Val)
c.1390C>G (p.Leu464Val)
c.1456C>G (p.Leu486Val)
c.973C>G (p.Leu325Val)
c.997C>G (p.Leu333Val)
5g.162153357C>TCA362184243GABRG2c.1418C>T
c.1513C>T (p.Leu505Phe)
c.1476C>T
n.671C>T
c.1108C>T (p.Leu370Phe)
c.1132C>T (p.Leu378Phe)
c.*4014C>T (n.*4014C>T)
c.1294C>T
c.784C>T (p.Leu262Phe)
c.1393C>T (p.Leu465Phe)
c.1417C>T (p.Leu473Phe)
c.2080C>T (n.2080C>T)
c.*1598C>T (n.*1598C>T)
c.*617C>T (n.*617C>T)
c.1351C>T (p.Leu451Phe)
c.1327C>T (p.Leu443Phe)
n.691C>T
n.6364C>T
c.855C>T
c.1330C>T (p.Leu444Phe)
c.1486C>T (p.Leu496Phe)
c.1537C>T (p.Leu513Phe)
c.*995C>T (n.*995C>T)
c.1514C>T (n.1514C>T)
c.1408C>T (p.Leu470Phe)
c.*251C>T (n.*251C>T)
c.1414C>T (p.Leu472Phe)
c.1390C>T (p.Leu464Phe)
c.1456C>T (p.Leu486Phe)
c.973C>T (p.Leu325Phe)
c.997C>T (p.Leu333Phe)
 gnomAD v4
5g.162153358T>ACA362184246GABRG2c.1419T>A
c.1514T>A (p.Leu505His)
c.1477T>A
n.672T>A
c.1109T>A (p.Leu370His)
c.1133T>A (p.Leu378His)
c.*4015T>A (n.*4015T>A)
c.1295T>A
c.785T>A (p.Leu262His)
c.1394T>A (p.Leu465His)
c.1418T>A (p.Leu473His)
c.2081T>A (n.2081T>A)
c.*1599T>A (n.*1599T>A)
c.*618T>A (n.*618T>A)
c.1352T>A (p.Leu451His)
c.1328T>A (p.Leu443His)
n.692T>A
n.6365T>A
c.856T>A
c.1331T>A (p.Leu444His)
c.1487T>A (p.Leu496His)
c.1538T>A (p.Leu513His)
c.*996T>A (n.*996T>A)
c.1515T>A (n.1515T>A)
c.1409T>A (p.Leu470His)
c.*252T>A (n.*252T>A)
c.1415T>A (p.Leu472His)
c.1391T>A (p.Leu464His)
c.1457T>A (p.Leu486His)
c.974T>A (p.Leu325His)
c.998T>A (p.Leu333His)
5g.162153358T>CCA362184247GABRG2c.1419T>C
c.1514T>C (p.Leu505Pro)
c.1477T>C
n.672T>C
c.1109T>C (p.Leu370Pro)
c.1133T>C (p.Leu378Pro)
c.*4015T>C (n.*4015T>C)
c.1295T>C
c.785T>C (p.Leu262Pro)
c.1394T>C (p.Leu465Pro)
c.1418T>C (p.Leu473Pro)
c.2081T>C (n.2081T>C)
c.*1599T>C (n.*1599T>C)
c.*618T>C (n.*618T>C)
c.1352T>C (p.Leu451Pro)
c.1328T>C (p.Leu443Pro)
n.692T>C
n.6365T>C
c.856T>C
c.1331T>C (p.Leu444Pro)
c.1487T>C (p.Leu496Pro)
c.1538T>C (p.Leu513Pro)
c.*996T>C (n.*996T>C)
c.1515T>C (n.1515T>C)
c.1409T>C (p.Leu470Pro)
c.*252T>C (n.*252T>C)
c.1415T>C (p.Leu472Pro)
c.1391T>C (p.Leu464Pro)
c.1457T>C (p.Leu486Pro)
c.974T>C (p.Leu325Pro)
c.998T>C (p.Leu333Pro)
5g.162153358T>GCA362184250GABRG2c.1419T>G
c.1514T>G (p.Leu505Arg)
c.1477T>G
n.672T>G
c.1109T>G (p.Leu370Arg)
c.1133T>G (p.Leu378Arg)
c.*4015T>G (n.*4015T>G)
c.1295T>G
c.785T>G (p.Leu262Arg)
c.1394T>G (p.Leu465Arg)
c.1418T>G (p.Leu473Arg)
c.2081T>G (n.2081T>G)
c.*1599T>G (n.*1599T>G)
c.*618T>G (n.*618T>G)
c.1352T>G (p.Leu451Arg)
c.1328T>G (p.Leu443Arg)
n.692T>G
n.6365T>G
c.856T>G
c.1331T>G (p.Leu444Arg)
c.1487T>G (p.Leu496Arg)
c.1538T>G (p.Leu513Arg)
c.*996T>G (n.*996T>G)
c.1515T>G (n.1515T>G)
c.1409T>G (p.Leu470Arg)
c.*252T>G (n.*252T>G)
c.1415T>G (p.Leu472Arg)
c.1391T>G (p.Leu464Arg)
c.1457T>G (p.Leu486Arg)
c.974T>G (p.Leu325Arg)
c.998T>G (p.Leu333Arg)
5g.162153359C>ACA447692047GABRG2c.1420C>A
c.1515C>A (p.Leu505=)
c.1478C>A
n.673C>A
c.1110C>A (p.Leu370=)
c.1134C>A (p.Leu378=)
c.*4016C>A (n.*4016C>A)
c.1296C>A
c.786C>A (p.Leu262=)
c.1395C>A (p.Leu465=)
c.1419C>A (p.Leu473=)
c.2082C>A (n.2082C>A)
c.*1600C>A (n.*1600C>A)
c.*619C>A (n.*619C>A)
c.1353C>A (p.Leu451=)
c.1329C>A (p.Leu443=)
n.693C>A
n.6366C>A
c.857C>A
c.1332C>A (p.Leu444=)
c.1488C>A (p.Leu496=)
c.1539C>A (p.Leu513=)
c.*997C>A (n.*997C>A)
c.1516C>A (n.1516C>A)
c.1410C>A (p.Leu470=)
c.*253C>A (n.*253C>A)
c.1416C>A (p.Leu472=)
c.1392C>A (p.Leu464=)
c.1458C>A (p.Leu486=)
c.975C>A (p.Leu325=)
c.999C>A (p.Leu333=)
5g.162153359C>GCA447692049GABRG2c.1420C>G
c.1515C>G (p.Leu505=)
c.1478C>G
n.673C>G
c.1110C>G (p.Leu370=)
c.1134C>G (p.Leu378=)
c.*4016C>G (n.*4016C>G)
c.1296C>G
c.786C>G (p.Leu262=)
c.1395C>G (p.Leu465=)
c.1419C>G (p.Leu473=)
c.2082C>G (n.2082C>G)
c.*1600C>G (n.*1600C>G)
c.*619C>G (n.*619C>G)
c.1353C>G (p.Leu451=)
c.1329C>G (p.Leu443=)
n.693C>G
n.6366C>G
c.857C>G
c.1332C>G (p.Leu444=)
c.1488C>G (p.Leu496=)
c.1539C>G (p.Leu513=)
c.*997C>G (n.*997C>G)
c.1516C>G (n.1516C>G)
c.1410C>G (p.Leu470=)
c.*253C>G (n.*253C>G)
c.1416C>G (p.Leu472=)
c.1392C>G (p.Leu464=)
c.1458C>G (p.Leu486=)
c.975C>G (p.Leu325=)
c.999C>G (p.Leu333=)
5g.162153359C>TCA447692051GABRG2c.1420C>T
c.1515C>T (p.Leu505=)
c.1478C>T
n.673C>T
c.1110C>T (p.Leu370=)
c.1134C>T (p.Leu378=)
c.*4016C>T (n.*4016C>T)
c.1296C>T
c.786C>T (p.Leu262=)
c.1395C>T (p.Leu465=)
c.1419C>T (p.Leu473=)
c.2082C>T (n.2082C>T)
c.*1600C>T (n.*1600C>T)
c.*619C>T (n.*619C>T)
c.1353C>T (p.Leu451=)
c.1329C>T (p.Leu443=)
n.693C>T
n.6366C>T
c.857C>T
c.1332C>T (p.Leu444=)
c.1488C>T (p.Leu496=)
c.1539C>T (p.Leu513=)
c.*997C>T (n.*997C>T)
c.1516C>T (n.1516C>T)
c.1410C>T (p.Leu470=)
c.*253C>T (n.*253C>T)
c.1416C>T (p.Leu472=)
c.1392C>T (p.Leu464=)
c.1458C>T (p.Leu486=)
c.975C>T (p.Leu325=)
c.999C>T (p.Leu333=)
5g.162153360T>ACA362184251GABRG2c.1421T>A
c.1516T>A (p.Tyr506Asn)
c.1479T>A
n.674T>A
c.1111T>A (p.Tyr371Asn)
c.1135T>A (p.Tyr379Asn)
c.*4017T>A (n.*4017T>A)
c.1297T>A
c.787T>A (p.Tyr263Asn)
c.1396T>A (p.Tyr466Asn)
c.1420T>A (p.Tyr474Asn)
c.2083T>A (n.2083T>A)
c.*1601T>A (n.*1601T>A)
c.*620T>A (n.*620T>A)
c.1354T>A (p.Tyr452Asn)
c.1330T>A (p.Tyr444Asn)
n.694T>A
n.6367T>A
c.858T>A
c.1333T>A (p.Tyr445Asn)
c.1489T>A (p.Tyr497Asn)
c.1540T>A (p.Tyr514Asn)
c.*998T>A (n.*998T>A)
c.1517T>A (n.1517T>A)
c.1411T>A (p.Tyr471Asn)
c.*254T>A (n.*254T>A)
c.1417T>A (p.Tyr473Asn)
c.1393T>A (p.Tyr465Asn)
c.1459T>A (p.Tyr487Asn)
c.976T>A (p.Tyr326Asn)
c.1000T>A (p.Tyr334Asn)
5g.162153360T>CCA362184253GABRG2c.1421T>C
c.1516T>C (p.Tyr506His)
c.1479T>C
n.674T>C
c.1111T>C (p.Tyr371His)
c.1135T>C (p.Tyr379His)
c.*4017T>C (n.*4017T>C)
c.1297T>C
c.787T>C (p.Tyr263His)
c.1396T>C (p.Tyr466His)
c.1420T>C (p.Tyr474His)
c.2083T>C (n.2083T>C)
c.*1601T>C (n.*1601T>C)
c.*620T>C (n.*620T>C)
c.1354T>C (p.Tyr452His)
c.1330T>C (p.Tyr444His)
n.694T>C
n.6367T>C
c.858T>C
c.1333T>C (p.Tyr445His)
c.1489T>C (p.Tyr497His)
c.1540T>C (p.Tyr514His)
c.*998T>C (n.*998T>C)
c.1517T>C (n.1517T>C)
c.1411T>C (p.Tyr471His)
c.*254T>C (n.*254T>C)
c.1417T>C (p.Tyr473His)
c.1393T>C (p.Tyr465His)
c.1459T>C (p.Tyr487His)
c.976T>C (p.Tyr326His)
c.1000T>C (p.Tyr334His)
5g.162153360T>GCA362184255GABRG2c.1421T>G
c.1516T>G (p.Tyr506Asp)
c.1479T>G
n.674T>G
c.1111T>G (p.Tyr371Asp)
c.1135T>G (p.Tyr379Asp)
c.*4017T>G (n.*4017T>G)
c.1297T>G
c.787T>G (p.Tyr263Asp)
c.1396T>G (p.Tyr466Asp)
c.1420T>G (p.Tyr474Asp)
c.2083T>G (n.2083T>G)
c.*1601T>G (n.*1601T>G)
c.*620T>G (n.*620T>G)
c.1354T>G (p.Tyr452Asp)
c.1330T>G (p.Tyr444Asp)
n.694T>G
n.6367T>G
c.858T>G
c.1333T>G (p.Tyr445Asp)
c.1489T>G (p.Tyr497Asp)
c.1540T>G (p.Tyr514Asp)
c.*998T>G (n.*998T>G)
c.1517T>G (n.1517T>G)
c.1411T>G (p.Tyr471Asp)
c.*254T>G (n.*254T>G)
c.1417T>G (p.Tyr473Asp)
c.1393T>G (p.Tyr465Asp)
c.1459T>G (p.Tyr487Asp)
c.976T>G (p.Tyr326Asp)
c.1000T>G (p.Tyr334Asp)
5g.162153361A>CCA362184261GABRG2c.1422A>C
c.1517A>C (p.Tyr506Ser)
c.1480A>C
n.675A>C
c.1112A>C (p.Tyr371Ser)
c.1136A>C (p.Tyr379Ser)
c.*4018A>C (n.*4018A>C)
c.1298A>C
c.788A>C (p.Tyr263Ser)
c.1397A>C (p.Tyr466Ser)
c.1421A>C (p.Tyr474Ser)
c.2084A>C (n.2084A>C)
c.*1602A>C (n.*1602A>C)
c.*621A>C (n.*621A>C)
c.1355A>C (p.Tyr452Ser)
c.1331A>C (p.Tyr444Ser)
n.695A>C
n.6368A>C
c.859A>C
c.1334A>C (p.Tyr445Ser)
c.1490A>C (p.Tyr497Ser)
c.1541A>C (p.Tyr514Ser)
c.*999A>C (n.*999A>C)
c.1518A>C (n.1518A>C)
c.1412A>C (p.Tyr471Ser)
c.*255A>C (n.*255A>C)
c.1418A>C (p.Tyr473Ser)
c.1394A>C (p.Tyr465Ser)
c.1460A>C (p.Tyr487Ser)
c.977A>C (p.Tyr326Ser)
c.1001A>C (p.Tyr334Ser)
 COSMIC
5g.162153361A>GCA362184257GABRG2c.1422A>G
c.1517A>G (p.Tyr506Cys)
c.1480A>G
n.675A>G
c.1112A>G (p.Tyr371Cys)
c.1136A>G (p.Tyr379Cys)
c.*4018A>G (n.*4018A>G)
c.1298A>G
c.788A>G (p.Tyr263Cys)
c.1397A>G (p.Tyr466Cys)
c.1421A>G (p.Tyr474Cys)
c.2084A>G (n.2084A>G)
c.*1602A>G (n.*1602A>G)
c.*621A>G (n.*621A>G)
c.1355A>G (p.Tyr452Cys)
c.1331A>G (p.Tyr444Cys)
n.695A>G
n.6368A>G
c.859A>G
c.1334A>G (p.Tyr445Cys)
c.1490A>G (p.Tyr497Cys)
c.1541A>G (p.Tyr514Cys)
c.*999A>G (n.*999A>G)
c.1518A>G (n.1518A>G)
c.1412A>G (p.Tyr471Cys)
c.*255A>G (n.*255A>G)
c.1418A>G (p.Tyr473Cys)
c.1394A>G (p.Tyr465Cys)
c.1460A>G (p.Tyr487Cys)
c.977A>G (p.Tyr326Cys)
c.1001A>G (p.Tyr334Cys)
5g.162153361A>TCA362184259GABRG2c.1422A>T
c.1517A>T (p.Tyr506Phe)
c.1480A>T
n.675A>T
c.1112A>T (p.Tyr371Phe)
c.1136A>T (p.Tyr379Phe)
c.*4018A>T (n.*4018A>T)
c.1298A>T
c.788A>T (p.Tyr263Phe)
c.1397A>T (p.Tyr466Phe)
c.1421A>T (p.Tyr474Phe)
c.2084A>T (n.2084A>T)
c.*1602A>T (n.*1602A>T)
c.*621A>T (n.*621A>T)
c.1355A>T (p.Tyr452Phe)
c.1331A>T (p.Tyr444Phe)
n.695A>T
n.6368A>T
c.859A>T
c.1334A>T (p.Tyr445Phe)
c.1490A>T (p.Tyr497Phe)
c.1541A>T (p.Tyr514Phe)
c.*999A>T (n.*999A>T)
c.1518A>T (n.1518A>T)
c.1412A>T (p.Tyr471Phe)
c.*255A>T (n.*255A>T)
c.1418A>T (p.Tyr473Phe)
c.1394A>T (p.Tyr465Phe)
c.1460A>T (p.Tyr487Phe)
c.977A>T (p.Tyr326Phe)
c.1001A>T (p.Tyr334Phe)
5g.162153362C>ACA362184263GABRG2c.1423C>A
c.1518C>A (p.Tyr506Ter)
c.1481C>A
n.676C>A
c.1113C>A (p.Tyr371Ter)
c.1137C>A (p.Tyr379Ter)
c.*4019C>A (n.*4019C>A)
c.1299C>A
c.789C>A (p.Tyr263Ter)
c.1398C>A (p.Tyr466Ter)
c.1422C>A (p.Tyr474Ter)
c.2085C>A (n.2085C>A)
c.*1603C>A (n.*1603C>A)
c.*622C>A (n.*622C>A)
c.1356C>A (p.Tyr452Ter)
c.1332C>A (p.Tyr444Ter)
n.696C>A
n.6369C>A
c.860C>A
c.1335C>A (p.Tyr445Ter)
c.1491C>A (p.Tyr497Ter)
c.1542C>A (p.Tyr514Ter)
c.*1000C>A (n.*1000C>A)
c.1519C>A (n.1519C>A)
c.1413C>A (p.Tyr471Ter)
c.*256C>A (n.*256C>A)
c.1419C>A (p.Tyr473Ter)
c.1395C>A (p.Tyr465Ter)
c.1461C>A (p.Tyr487Ter)
c.978C>A (p.Tyr326Ter)
c.1002C>A (p.Tyr334Ter)
 COSMIC
5g.162153362C=CA1596382309GABRG2c.1423C=
c.1518C= (p.Tyr506=)
c.1481C=
n.676C=
c.1113C= (p.Tyr371=)
c.1137C= (p.Tyr379=)
c.*4019C= (n.*4019C=)
c.1299C=
c.789C= (p.Tyr263=)
c.1398C= (p.Tyr466=)
c.1422C= (p.Tyr474=)
c.2085C= (n.2085C=)
c.*1603C= (n.*1603C=)
c.*622C= (n.*622C=)
c.1356C= (p.Tyr452=)
c.1332C= (p.Tyr444=)
n.696C=
n.6369C=
c.860C=
c.1335C= (p.Tyr445=)
c.1491C= (p.Tyr497=)
c.1542C= (p.Tyr514=)
c.*1000C= (n.*1000C=)
c.1519C= (n.1519C=)
c.1413C= (p.Tyr471=)
c.*256C= (n.*256C=)
c.1419C= (p.Tyr473=)
c.1395C= (p.Tyr465=)
c.1461C= (p.Tyr487=)
c.978C= (p.Tyr326=)
c.1002C= (p.Tyr334=)
5g.162153362C>GCA362184265GABRG2c.1423C>G
c.1518C>G (p.Tyr506Ter)
c.1481C>G
n.676C>G
c.1113C>G (p.Tyr371Ter)
c.1137C>G (p.Tyr379Ter)
c.*4019C>G (n.*4019C>G)
c.1299C>G
c.789C>G (p.Tyr263Ter)
c.1398C>G (p.Tyr466Ter)
c.1422C>G (p.Tyr474Ter)
c.2085C>G (n.2085C>G)
c.*1603C>G (n.*1603C>G)
c.*622C>G (n.*622C>G)
c.1356C>G (p.Tyr452Ter)
c.1332C>G (p.Tyr444Ter)
n.696C>G
n.6369C>G
c.860C>G
c.1335C>G (p.Tyr445Ter)
c.1491C>G (p.Tyr497Ter)
c.1542C>G (p.Tyr514Ter)
c.*1000C>G (n.*1000C>G)
c.1519C>G (n.1519C>G)
c.1413C>G (p.Tyr471Ter)
c.*256C>G (n.*256C>G)
c.1419C>G (p.Tyr473Ter)
c.1395C>G (p.Tyr465Ter)
c.1461C>G (p.Tyr487Ter)
c.978C>G (p.Tyr326Ter)
c.1002C>G (p.Tyr334Ter)
5g.162153362C>TCA131117678GABRG2c.1423C>T
c.1518C>T (p.Tyr506=)
c.1481C>T
n.676C>T
c.1113C>T (p.Tyr371=)
c.1137C>T (p.Tyr379=)
c.*4019C>T (n.*4019C>T)
c.1299C>T
c.789C>T (p.Tyr263=)
c.1398C>T (p.Tyr466=)
c.1422C>T (p.Tyr474=)
c.2085C>T (n.2085C>T)
c.*1603C>T (n.*1603C>T)
c.*622C>T (n.*622C>T)
c.1356C>T (p.Tyr452=)
c.1332C>T (p.Tyr444=)
n.696C>T
n.6369C>T
c.860C>T
c.1335C>T (p.Tyr445=)
c.1491C>T (p.Tyr497=)
c.1542C>T (p.Tyr514=)
c.*1000C>T (n.*1000C>T)
c.1519C>T (n.1519C>T)
c.1413C>T (p.Tyr471=)
c.*256C>T (n.*256C>T)
c.1419C>T (p.Tyr473=)
c.1395C>T (p.Tyr465=)
c.1461C>T (p.Tyr487=)
c.978C>T (p.Tyr326=)
c.1002C>T (p.Tyr334=)
 ClinVar dbSNP gnomAD v4
5g.162153363C>ACA362184267GABRG2c.1424C>A
c.1519C>A (p.Leu507Met)
c.1482C>A
n.677C>A
c.1114C>A (p.Leu372Met)
c.1138C>A (p.Leu380Met)
c.*4020C>A (n.*4020C>A)
c.1300C>A
c.790C>A (p.Leu264Met)
c.1399C>A (p.Leu467Met)
c.1423C>A (p.Leu475Met)
c.2086C>A (n.2086C>A)
c.*1604C>A (n.*1604C>A)
c.*623C>A (n.*623C>A)
c.1357C>A (p.Leu453Met)
c.1333C>A (p.Leu445Met)
n.697C>A
n.6370C>A
c.861C>A
c.1336C>A (p.Leu446Met)
c.1492C>A (p.Leu498Met)
c.1543C>A (p.Leu515Met)
c.*1001C>A (n.*1001C>A)
c.1520C>A (n.1520C>A)
c.1414C>A (p.Leu472Met)
c.*257C>A (n.*257C>A)
c.1420C>A (p.Leu474Met)
c.1396C>A (p.Leu466Met)
c.1462C>A (p.Leu488Met)
c.979C>A (p.Leu327Met)
c.1003C>A (p.Leu335Met)
5g.162153363C>GCA362184270GABRG2c.1424C>G
c.1519C>G (p.Leu507Val)
c.1482C>G
n.677C>G
c.1114C>G (p.Leu372Val)
c.1138C>G (p.Leu380Val)
c.*4020C>G (n.*4020C>G)
c.1300C>G
c.790C>G (p.Leu264Val)
c.1399C>G (p.Leu467Val)
c.1423C>G (p.Leu475Val)
c.2086C>G (n.2086C>G)
c.*1604C>G (n.*1604C>G)
c.*623C>G (n.*623C>G)
c.1357C>G (p.Leu453Val)
c.1333C>G (p.Leu445Val)
n.697C>G
n.6370C>G
c.861C>G
c.1336C>G (p.Leu446Val)
c.1492C>G (p.Leu498Val)
c.1543C>G (p.Leu515Val)
c.*1001C>G (n.*1001C>G)
c.1520C>G (n.1520C>G)
c.1414C>G (p.Leu472Val)
c.*257C>G (n.*257C>G)
c.1420C>G (p.Leu474Val)
c.1396C>G (p.Leu466Val)
c.1462C>G (p.Leu488Val)
c.979C>G (p.Leu327Val)
c.1003C>G (p.Leu335Val)
5g.162153363C>TCA447692054GABRG2c.1424C>T
c.1519C>T (p.Leu507=)
c.1482C>T
n.677C>T
c.1114C>T (p.Leu372=)
c.1138C>T (p.Leu380=)
c.*4020C>T (n.*4020C>T)
c.1300C>T
c.790C>T (p.Leu264=)
c.1399C>T (p.Leu467=)
c.1423C>T (p.Leu475=)
c.2086C>T (n.2086C>T)
c.*1604C>T (n.*1604C>T)
c.*623C>T (n.*623C>T)
c.1357C>T (p.Leu453=)
c.1333C>T (p.Leu445=)
n.697C>T
n.6370C>T
c.861C>T
c.1336C>T (p.Leu446=)
c.1492C>T (p.Leu498=)
c.1543C>T (p.Leu515=)
c.*1001C>T (n.*1001C>T)
c.1520C>T (n.1520C>T)
c.1414C>T (p.Leu472=)
c.*257C>T (n.*257C>T)
c.1420C>T (p.Leu474=)
c.1396C>T (p.Leu466=)
c.1462C>T (p.Leu488=)
c.979C>T (p.Leu327=)
c.1003C>T (p.Leu335=)
5g.162153364T>ACA362184272GABRG2c.1425T>A
c.1520T>A (p.Leu507Gln)
c.1483T>A
n.678T>A
c.1115T>A (p.Leu372Gln)
c.1139T>A (p.Leu380Gln)
c.*4021T>A (n.*4021T>A)
c.1301T>A
c.791T>A (p.Leu264Gln)
c.1400T>A (p.Leu467Gln)
c.1424T>A (p.Leu475Gln)
c.2087T>A (n.2087T>A)
c.*1605T>A (n.*1605T>A)
c.*624T>A (n.*624T>A)
c.1358T>A (p.Leu453Gln)
c.1334T>A (p.Leu445Gln)
n.698T>A
n.6371T>A
c.862T>A
c.1337T>A (p.Leu446Gln)
c.1493T>A (p.Leu498Gln)
c.1544T>A (p.Leu515Gln)
c.*1002T>A (n.*1002T>A)
c.1521T>A (n.1521T>A)
c.1415T>A (p.Leu472Gln)
c.*258T>A (n.*258T>A)
c.1421T>A (p.Leu474Gln)
c.1397T>A (p.Leu466Gln)
c.1463T>A (p.Leu488Gln)
c.980T>A (p.Leu327Gln)
c.1004T>A (p.Leu335Gln)
5g.162153364T>CCA362184274GABRG2c.1425T>C
c.1520T>C (p.Leu507Pro)
c.1483T>C
n.678T>C
c.1115T>C (p.Leu372Pro)
c.1139T>C (p.Leu380Pro)
c.*4021T>C (n.*4021T>C)
c.1301T>C
c.791T>C (p.Leu264Pro)
c.1400T>C (p.Leu467Pro)
c.1424T>C (p.Leu475Pro)
c.2087T>C (n.2087T>C)
c.*1605T>C (n.*1605T>C)
c.*624T>C (n.*624T>C)
c.1358T>C (p.Leu453Pro)
c.1334T>C (p.Leu445Pro)
n.698T>C
n.6371T>C
c.862T>C
c.1337T>C (p.Leu446Pro)
c.1493T>C (p.Leu498Pro)
c.1544T>C (p.Leu515Pro)
c.*1002T>C (n.*1002T>C)
c.1521T>C (n.1521T>C)
c.1415T>C (p.Leu472Pro)
c.*258T>C (n.*258T>C)
c.1421T>C (p.Leu474Pro)
c.1397T>C (p.Leu466Pro)
c.1463T>C (p.Leu488Pro)
c.980T>C (p.Leu327Pro)
c.1004T>C (p.Leu335Pro)
5g.162153364T>GCA362184275GABRG2c.1425T>G
c.1520T>G (p.Leu507Arg)
c.1483T>G
n.678T>G
c.1115T>G (p.Leu372Arg)
c.1139T>G (p.Leu380Arg)
c.*4021T>G (n.*4021T>G)
c.1301T>G
c.791T>G (p.Leu264Arg)
c.1400T>G (p.Leu467Arg)
c.1424T>G (p.Leu475Arg)
c.2087T>G (n.2087T>G)
c.*1605T>G (n.*1605T>G)
c.*624T>G (n.*624T>G)
c.1358T>G (p.Leu453Arg)
c.1334T>G (p.Leu445Arg)
n.698T>G
n.6371T>G
c.862T>G
c.1337T>G (p.Leu446Arg)
c.1493T>G (p.Leu498Arg)
c.1544T>G (p.Leu515Arg)
c.*1002T>G (n.*1002T>G)
c.1521T>G (n.1521T>G)
c.1415T>G (p.Leu472Arg)
c.*258T>G (n.*258T>G)
c.1421T>G (p.Leu474Arg)
c.1397T>G (p.Leu466Arg)
c.1463T>G (p.Leu488Arg)
c.980T>G (p.Leu327Arg)
c.1004T>G (p.Leu335Arg)
5g.162153365G>ACA10621204GABRG2c.1426G>A
c.1521G>A (p.Leu507=)
c.1484G>A
n.679G>A
c.1116G>A (p.Leu372=)
c.1140G>A (p.Leu380=)
c.*4022G>A (n.*4022G>A)
c.1302G>A
c.792G>A (p.Leu264=)
c.1401G>A (p.Leu467=)
c.1425G>A (p.Leu475=)
c.2088G>A (n.2088G>A)
c.*1606G>A (n.*1606G>A)
c.*625G>A (n.*625G>A)
c.1359G>A (p.Leu453=)
c.1335G>A (p.Leu445=)
n.699G>A
n.6372G>A
c.863G>A
c.1338G>A (p.Leu446=)
c.1494G>A (p.Leu498=)
c.1545G>A (p.Leu515=)
c.*1003G>A (n.*1003G>A)
c.1522G>A (n.1522G>A)
c.1416G>A (p.Leu472=)
c.*259G>A (n.*259G>A)
c.1422G>A (p.Leu474=)
c.1398G>A (p.Leu466=)
c.1464G>A (p.Leu488=)
c.981G>A (p.Leu327=)
c.1005G>A (p.Leu335=)
 ClinVar dbSNP
5g.162153365G>CCA447692056GABRG2c.1426G>C
c.1521G>C (p.Leu507=)
c.1484G>C
n.679G>C
c.1116G>C (p.Leu372=)
c.1140G>C (p.Leu380=)
c.*4022G>C (n.*4022G>C)
c.1302G>C
c.792G>C (p.Leu264=)
c.1401G>C (p.Leu467=)
c.1425G>C (p.Leu475=)
c.2088G>C (n.2088G>C)
c.*1606G>C (n.*1606G>C)
c.*625G>C (n.*625G>C)
c.1359G>C (p.Leu453=)
c.1335G>C (p.Leu445=)
n.699G>C
n.6372G>C
c.863G>C
c.1338G>C (p.Leu446=)
c.1494G>C (p.Leu498=)
c.1545G>C (p.Leu515=)
c.*1003G>C (n.*1003G>C)
c.1522G>C (n.1522G>C)
c.1416G>C (p.Leu472=)
c.*259G>C (n.*259G>C)
c.1422G>C (p.Leu474=)
c.1398G>C (p.Leu466=)
c.1464G>C (p.Leu488=)
c.981G>C (p.Leu327=)
c.1005G>C (p.Leu335=)
5g.162153365G=CA1596382313GABRG2c.1426G=
c.1521G= (p.Leu507=)
c.1484G=
n.679G=
c.1116G= (p.Leu372=)
c.1140G= (p.Leu380=)
c.*4022G= (n.*4022G=)
c.1302G=
c.792G= (p.Leu264=)
c.1401G= (p.Leu467=)
c.1425G= (p.Leu475=)
c.2088G= (n.2088G=)
c.*1606G= (n.*1606G=)
c.*625G= (n.*625G=)
c.1359G= (p.Leu453=)
c.1335G= (p.Leu445=)
n.699G=
n.6372G=
c.863G=
c.1338G= (p.Leu446=)
c.1494G= (p.Leu498=)
c.1545G= (p.Leu515=)
c.*1003G= (n.*1003G=)
c.1522G= (n.1522G=)
c.1416G= (p.Leu472=)
c.*259G= (n.*259G=)
c.1422G= (p.Leu474=)
c.1398G= (p.Leu466=)
c.1464G= (p.Leu488=)
c.981G= (p.Leu327=)
c.1005G= (p.Leu335=)
5g.162153365G>TCA447692057GABRG2c.1426G>T
c.1521G>T (p.Leu507=)
c.1484G>T
n.679G>T
c.1116G>T (p.Leu372=)
c.1140G>T (p.Leu380=)
c.*4022G>T (n.*4022G>T)
c.1302G>T
c.792G>T (p.Leu264=)
c.1401G>T (p.Leu467=)
c.1425G>T (p.Leu475=)
c.2088G>T (n.2088G>T)
c.*1606G>T (n.*1606G>T)
c.*625G>T (n.*625G>T)
c.1359G>T (p.Leu453=)
c.1335G>T (p.Leu445=)
n.699G>T
n.6372G>T
c.863G>T
c.1338G>T (p.Leu446=)
c.1494G>T (p.Leu498=)
c.1545G>T (p.Leu515=)
c.*1003G>T (n.*1003G>T)
c.1522G>T (n.1522G>T)
c.1416G>T (p.Leu472=)
c.*259G>T (n.*259G>T)
c.1422G>T (p.Leu474=)
c.1398G>T (p.Leu466=)
c.1464G>T (p.Leu488=)
c.981G>T (p.Leu327=)
c.1005G>T (p.Leu335=)
5g.162153366T>ACA362184278GABRG2c.1427T>A
c.1522T>A (p.Ter508Arg)
c.1485T>A
n.680T>A
c.1117T>A (p.Ter373Arg)
c.1141T>A (p.Ter381Arg)
c.*4023T>A (n.*4023T>A)
c.1303T>A
c.793T>A (p.Ter265Arg)
c.1402T>A (p.Ter468Arg)
c.1426T>A (p.Ter476Arg)
c.2089T>A (n.2089T>A)
c.*1607T>A (n.*1607T>A)
c.*626T>A (n.*626T>A)
c.1360T>A (p.Ter454Arg)
c.1336T>A (p.Ter446Arg)
n.700T>A
n.6373T>A
c.864T>A
c.1339T>A (p.Ter447Arg)
c.1495T>A (p.Ter499Arg)
c.1546T>A (p.Ter516Arg)
c.*1004T>A (n.*1004T>A)
c.1523T>A (n.1523T>A)
c.1417T>A (p.Ter473Arg)
c.*260T>A (n.*260T>A)
c.1423T>A (p.Ter475Arg)
c.1399T>A (p.Ter467Arg)
c.1465T>A (p.Ter489Arg)
c.982T>A (p.Ter328Arg)
c.1006T>A (p.Ter336Arg)
5g.162153366T>CCA362184281GABRG2c.1427T>C
c.1522T>C (p.Ter508Arg)
c.1485T>C
n.680T>C
c.1117T>C (p.Ter373Arg)
c.1141T>C (p.Ter381Arg)
c.*4023T>C (n.*4023T>C)
c.1303T>C
c.793T>C (p.Ter265Arg)
c.1402T>C (p.Ter468Arg)
c.1426T>C (p.Ter476Arg)
c.2089T>C (n.2089T>C)
c.*1607T>C (n.*1607T>C)
c.*626T>C (n.*626T>C)
c.1360T>C (p.Ter454Arg)
c.1336T>C (p.Ter446Arg)
n.700T>C
n.6373T>C
c.864T>C
c.1339T>C (p.Ter447Arg)
c.1495T>C (p.Ter499Arg)
c.1546T>C (p.Ter516Arg)
c.*1004T>C (n.*1004T>C)
c.1523T>C (n.1523T>C)
c.1417T>C (p.Ter473Arg)
c.*260T>C (n.*260T>C)
c.1423T>C (p.Ter475Arg)
c.1399T>C (p.Ter467Arg)
c.1465T>C (p.Ter489Arg)
c.982T>C (p.Ter328Arg)
c.1006T>C (p.Ter336Arg)
 gnomAD v4
5g.162153366T>GCA362184282GABRG2c.1427T>G
c.1522T>G (p.Ter508Gly)
c.1485T>G
n.680T>G
c.1117T>G (p.Ter373Gly)
c.1141T>G (p.Ter381Gly)
c.*4023T>G (n.*4023T>G)
c.1303T>G
c.793T>G (p.Ter265Gly)
c.1402T>G (p.Ter468Gly)
c.1426T>G (p.Ter476Gly)
c.2089T>G (n.2089T>G)
c.*1607T>G (n.*1607T>G)
c.*626T>G (n.*626T>G)
c.1360T>G (p.Ter454Gly)
c.1336T>G (p.Ter446Gly)
n.700T>G
n.6373T>G
c.864T>G
c.1339T>G (p.Ter447Gly)
c.1495T>G (p.Ter499Gly)
c.1546T>G (p.Ter516Gly)
c.*1004T>G (n.*1004T>G)
c.1523T>G (n.1523T>G)
c.1417T>G (p.Ter473Gly)
c.*260T>G (n.*260T>G)
c.1423T>G (p.Ter475Gly)
c.1399T>G (p.Ter467Gly)
c.1465T>G (p.Ter489Gly)
c.982T>G (p.Ter328Gly)
c.1006T>G (p.Ter336Gly)
5g.162153367G>ACA447692058GABRG2c.1428G>A
c.1523G>A (p.Ter508=)
c.1486G>A
n.681G>A
c.1118G>A (p.Ter373=)
c.1142G>A (p.Ter381=)
c.*4024G>A (n.*4024G>A)
c.1304G>A
c.794G>A (p.Ter265=)
c.1403G>A (p.Ter468=)
c.1427G>A (p.Ter476=)
c.2090G>A (n.2090G>A)
c.*1608G>A (n.*1608G>A)
c.*627G>A (n.*627G>A)
c.1361G>A (p.Ter454=)
c.1337G>A (p.Ter446=)
n.701G>A
n.6374G>A
c.865G>A
c.1340G>A (p.Ter447=)
c.1496G>A (p.Ter499=)
c.1547G>A (p.Ter516=)
c.*1005G>A (n.*1005G>A)
c.1524G>A (n.1524G>A)
c.1418G>A (p.Ter473=)
c.*261G>A (n.*261G>A)
c.1424G>A (p.Ter475=)
c.1400G>A (p.Ter467=)
c.1466G>A (p.Ter489=)
c.983G>A (p.Ter328=)
c.1007G>A (p.Ter336=)
 dbSNP gnomAD v2 gnomAD v4
5g.162153367G>CCA362184286GABRG2c.1428G>C
c.1523G>C (p.Ter508Ser)
c.1486G>C
n.681G>C
c.1118G>C (p.Ter373Ser)
c.1142G>C (p.Ter381Ser)
c.*4024G>C (n.*4024G>C)
c.1304G>C
c.794G>C (p.Ter265Ser)
c.1403G>C (p.Ter468Ser)
c.1427G>C (p.Ter476Ser)
c.2090G>C (n.2090G>C)
c.*1608G>C (n.*1608G>C)
c.*627G>C (n.*627G>C)
c.1361G>C (p.Ter454Ser)
c.1337G>C (p.Ter446Ser)
n.701G>C
n.6374G>C
c.865G>C
c.1340G>C (p.Ter447Ser)
c.1496G>C (p.Ter499Ser)
c.1547G>C (p.Ter516Ser)
c.*1005G>C (n.*1005G>C)
c.1524G>C (n.1524G>C)
c.1418G>C (p.Ter473Ser)
c.*261G>C (n.*261G>C)
c.1424G>C (p.Ter475Ser)
c.1400G>C (p.Ter467Ser)
c.1466G>C (p.Ter489Ser)
c.983G>C (p.Ter328Ser)
c.1007G>C (p.Ter336Ser)
5g.162153367G=CA1596382317GABRG2c.1428G=
c.1523G= (p.Ter508=)
c.1486G=
n.681G=
c.1118G= (p.Ter373=)
c.1142G= (p.Ter381=)
c.*4024G= (n.*4024G=)
c.1304G=
c.794G= (p.Ter265=)
c.1403G= (p.Ter468=)
c.1427G= (p.Ter476=)
c.2090G= (n.2090G=)
c.*1608G= (n.*1608G=)
c.*627G= (n.*627G=)
c.1361G= (p.Ter454=)
c.1337G= (p.Ter446=)
n.701G=
n.6374G=
c.865G=
c.1340G= (p.Ter447=)
c.1496G= (p.Ter499=)
c.1547G= (p.Ter516=)
c.*1005G= (n.*1005G=)
c.1524G= (n.1524G=)
c.1418G= (p.Ter473=)
c.*261G= (n.*261G=)
c.1424G= (p.Ter475=)
c.1400G= (p.Ter467=)
c.1466G= (p.Ter489=)
c.983G= (p.Ter328=)
c.1007G= (p.Ter336=)
5g.162153367G>TCA362184285GABRG2c.1428G>T
c.1523G>T (p.Ter508Leu)
c.1486G>T
n.681G>T
c.1118G>T (p.Ter373Leu)
c.1142G>T (p.Ter381Leu)
c.*4024G>T (n.*4024G>T)
c.1304G>T
c.794G>T (p.Ter265Leu)
c.1403G>T (p.Ter468Leu)
c.1427G>T (p.Ter476Leu)
c.2090G>T (n.2090G>T)
c.*1608G>T (n.*1608G>T)
c.*627G>T (n.*627G>T)
c.1361G>T (p.Ter454Leu)
c.1337G>T (p.Ter446Leu)
n.701G>T
n.6374G>T
c.865G>T
c.1340G>T (p.Ter447Leu)
c.1496G>T (p.Ter499Leu)
c.1547G>T (p.Ter516Leu)
c.*1005G>T (n.*1005G>T)
c.1524G>T (n.1524G>T)
c.1418G>T (p.Ter473Leu)
c.*261G>T (n.*261G>T)
c.1424G>T (p.Ter475Leu)
c.1400G>T (p.Ter467Leu)
c.1466G>T (p.Ter489Leu)
c.983G>T (p.Ter328Leu)
c.1007G>T (p.Ter336Leu)
5g.162153368A>CCA362184289GABRG2c.1429A>C
c.1524A>C (p.Ter508Cys)
c.1487A>C
n.682A>C
c.1119A>C (p.Ter373Cys)
c.1143A>C (p.Ter381Cys)
c.*4025A>C (n.*4025A>C)
c.1305A>C
c.795A>C (p.Ter265Cys)
c.1404A>C (p.Ter468Cys)
c.1428A>C (p.Ter476Cys)
c.2091A>C (n.2091A>C)
c.*1609A>C (n.*1609A>C)
c.*628A>C (n.*628A>C)
c.1362A>C (p.Ter454Cys)
c.1338A>C (p.Ter446Cys)
n.702A>C
n.6375A>C
c.866A>C
c.1341A>C (p.Ter447Cys)
c.1497A>C (p.Ter499Cys)
c.1548A>C (p.Ter516Cys)
c.*1006A>C (n.*1006A>C)
c.1525A>C (n.1525A>C)
c.1419A>C (p.Ter473Cys)
c.*262A>C (n.*262A>C)
c.1425A>C (p.Ter475Cys)
c.1401A>C (p.Ter467Cys)
c.1467A>C (p.Ter489Cys)
c.984A>C (p.Ter328Cys)
c.1008A>C (p.Ter336Cys)
5g.162153368A>GCA362184290GABRG2c.1429A>G
c.1524A>G (p.Ter508Trp)
c.1487A>G
n.682A>G
c.1119A>G (p.Ter373Trp)
c.1143A>G (p.Ter381Trp)
c.*4025A>G (n.*4025A>G)
c.1305A>G
c.795A>G (p.Ter265Trp)
c.1404A>G (p.Ter468Trp)
c.1428A>G (p.Ter476Trp)
c.2091A>G (n.2091A>G)
c.*1609A>G (n.*1609A>G)
c.*628A>G (n.*628A>G)
c.1362A>G (p.Ter454Trp)
c.1338A>G (p.Ter446Trp)
n.702A>G
n.6375A>G
c.866A>G
c.1341A>G (p.Ter447Trp)
c.1497A>G (p.Ter499Trp)
c.1548A>G (p.Ter516Trp)
c.*1006A>G (n.*1006A>G)
c.1525A>G (n.1525A>G)
c.1419A>G (p.Ter473Trp)
c.*262A>G (n.*262A>G)
c.1425A>G (p.Ter475Trp)
c.1401A>G (p.Ter467Trp)
c.1467A>G (p.Ter489Trp)
c.984A>G (p.Ter328Trp)
c.1008A>G (p.Ter336Trp)
5g.162153368A>TCA362184293GABRG2c.1429A>T
c.1524A>T (p.Ter508Cys)
c.1487A>T
n.682A>T
c.1119A>T (p.Ter373Cys)
c.1143A>T (p.Ter381Cys)
c.*4025A>T (n.*4025A>T)
c.1305A>T
c.795A>T (p.Ter265Cys)
c.1404A>T (p.Ter468Cys)
c.1428A>T (p.Ter476Cys)
c.2091A>T (n.2091A>T)
c.*1609A>T (n.*1609A>T)
c.*628A>T (n.*628A>T)
c.1362A>T (p.Ter454Cys)
c.1338A>T (p.Ter446Cys)
n.702A>T
n.6375A>T
c.866A>T
c.1341A>T (p.Ter447Cys)
c.1497A>T (p.Ter499Cys)
c.1548A>T (p.Ter516Cys)
c.*1006A>T (n.*1006A>T)
c.1525A>T (n.1525A>T)
c.1419A>T (p.Ter473Cys)
c.*262A>T (n.*262A>T)
c.1425A>T (p.Ter475Cys)
c.1401A>T (p.Ter467Cys)
c.1467A>T (p.Ter489Cys)
c.984A>T (p.Ter328Cys)
c.1008A>T (p.Ter336Cys)
5g.162153369G>ACA3545000GABRG2c.1430G>A
c.*1G>A (n.*1G>A)
c.1488G>A
n.683G>A
c.*4026G>A (n.*4026G>A)
c.1306G>A
c.2092G>A (n.2092G>A)
c.*1610G>A (n.*1610G>A)
c.*629G>A (n.*629G>A)
n.703G>A
n.6376G>A
c.867G>A
c.1498G>A (n.1498G>A)
c.*1007G>A (n.*1007G>A)
c.1526G>A (n.1526G>A)
c.*263G>A (n.*263G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.162153369G=CA1596382319GABRG2c.1430G=
c.*1G= (n.*1G=)
c.1488G=
n.683G=
c.*4026G= (n.*4026G=)
c.1306G=
c.2092G= (n.2092G=)
c.*1610G= (n.*1610G=)
c.*629G= (n.*629G=)
n.703G=
n.6376G=
c.867G=
c.1498G= (n.1498G=)
c.*1007G= (n.*1007G=)
c.1526G= (n.1526G=)
c.*263G= (n.*263G=)
5g.162153369_162153370insTCA650531524GABRG2c.1430_1431insT
c.*1_*2insT (n.*1_*2insT)
c.1488_1489insT
n.683_684insT
c.*4026_*4027insT (n.*4026_*4027insT)
c.1306_1307insT
c.2092_2093insT (n.2092_2093insT)
c.*1610_*1611insT (n.*1610_*1611insT)
c.*629_*630insT (n.*629_*630insT)
n.703_704insT
n.6376_6377insT
c.867_868insT
c.1498_1499insT (n.1498_1499insT)
c.*1007_*1008insT (n.*1007_*1008insT)
c.1526_1527insT (n.1526_1527insT)
c.*263_*264insT (n.*263_*264insT)
 COSMIC
5g.162153370_162153382delCA2578475000GABRG2c.1431_1443del
c.*2_*14del (n.*2_*14del)
c.1489_1501del
n.684_696del
c.*4027_*4039del (n.*4027_*4039del)
c.1307_1319del
c.2093_2105del (n.2093_2105del)
c.*1611_*1623del (n.*1611_*1623del)
c.*630_*642del (n.*630_*642del)
n.704_716del
n.6377_6389del
c.868_880del
c.1499_1511del (n.1499_1511del)
c.*1008_*1020del (n.*1008_*1020del)
c.1527_1539del (n.1527_1539del)
c.*264_*276del (n.*264_*276del)
5g.162153371A=CA1596382322GABRG2c.1432A=
c.*3A= (n.*3A=)
c.1490A=
n.685A=
c.*4028A= (n.*4028A=)
c.1308A=
c.2094A= (n.2094A=)
c.*1612A= (n.*1612A=)
c.*631A= (n.*631A=)
n.705A=
n.6378A=
c.869A=
c.1500A= (n.1500A=)
c.*1009A= (n.*1009A=)
c.1528A= (n.1528A=)
c.*265A= (n.*265A=)
5g.162153371A>GCA806668546GABRG2c.1432A>G
c.*3A>G (n.*3A>G)
c.1490A>G
n.685A>G
c.*4028A>G (n.*4028A>G)
c.1308A>G
c.2094A>G (n.2094A>G)
c.*1612A>G (n.*1612A>G)
c.*631A>G (n.*631A>G)
n.705A>G
n.6378A>G
c.869A>G
c.1500A>G (n.1500A>G)
c.*1009A>G (n.*1009A>G)
c.1528A>G (n.1528A>G)
c.*265A>G (n.*265A>G)
 dbSNP
5g.162153372G>ACA1596382324GABRG2c.1433G>A
c.*4G>A (n.*4G>A)
c.1491G>A
n.686G>A
c.*4029G>A (n.*4029G>A)
c.1309G>A
c.2095G>A (n.2095G>A)
c.*1613G>A (n.*1613G>A)
c.*632G>A (n.*632G>A)
n.706G>A
n.6379G>A
c.870G>A
c.1501G>A (n.1501G>A)
c.*1010G>A (n.*1010G>A)
c.1529G>A (n.1529G>A)
c.*266G>A (n.*266G>A)
 dbSNP gnomAD v4
5g.162153372G=CA1596382323GABRG2c.1433G=
c.*4G= (n.*4G=)
c.1491G=
n.686G=
c.*4029G= (n.*4029G=)
c.1309G=
c.2095G= (n.2095G=)
c.*1613G= (n.*1613G=)
c.*632G= (n.*632G=)
n.706G=
n.6379G=
c.870G=
c.1501G= (n.1501G=)
c.*1010G= (n.*1010G=)
c.1529G= (n.1529G=)
c.*266G= (n.*266G=)
5g.162153373G>ACA564438698GABRG2c.1434G>A
c.*5G>A (n.*5G>A)
c.1492G>A
n.687G>A
c.*4030G>A (n.*4030G>A)
c.1310G>A
c.2096G>A (n.2096G>A)
c.*1614G>A (n.*1614G>A)
c.*633G>A (n.*633G>A)
n.707G>A
n.6380G>A
c.871G>A
c.1502G>A (n.1502G>A)
c.*1011G>A (n.*1011G>A)
c.1530G>A (n.1530G>A)
c.*267G>A (n.*267G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
5g.162153373G=CA1596382325GABRG2c.1434G=
c.*5G= (n.*5G=)
c.1492G=
n.687G=
c.*4030G= (n.*4030G=)
c.1310G=
c.2096G= (n.2096G=)
c.*1614G= (n.*1614G=)
c.*633G= (n.*633G=)
n.707G=
n.6380G=
c.871G=
c.1502G= (n.1502G=)
c.*1011G= (n.*1011G=)
c.1530G= (n.1530G=)
c.*267G= (n.*267G=)
5g.162153373G>TCA1596382326GABRG2c.1434G>T
c.*5G>T (n.*5G>T)
c.1492G>T
n.687G>T
c.*4030G>T (n.*4030G>T)
c.1310G>T
c.2096G>T (n.2096G>T)
c.*1614G>T (n.*1614G>T)
c.*633G>T (n.*633G>T)
n.707G>T
n.6380G>T
c.871G>T
c.1502G>T (n.1502G>T)
c.*1011G>T (n.*1011G>T)
c.1530G>T (n.1530G>T)
c.*267G>T (n.*267G>T)
 dbSNP
5g.162153375A>GCA2676331013GABRG2c.1436A>G
c.*7A>G (n.*7A>G)
c.1494A>G
n.689A>G
c.*4032A>G (n.*4032A>G)
c.1312A>G
c.2098A>G (n.2098A>G)
c.*1616A>G (n.*1616A>G)
c.*635A>G (n.*635A>G)
n.709A>G
n.6382A>G
c.873A>G
c.1504A>G (n.1504A>G)
c.*1013A>G (n.*1013A>G)
c.1532A>G (n.1532A>G)
c.*269A>G (n.*269A>G)
 gnomAD v4
5g.162153377G>ACA2676331014GABRG2c.1438G>A
c.*9G>A (n.*9G>A)
c.1496G>A
n.691G>A
c.*4034G>A (n.*4034G>A)
c.1314G>A
c.2100G>A (n.2100G>A)
c.*1618G>A (n.*1618G>A)
c.*637G>A (n.*637G>A)
n.711G>A
n.6384G>A
c.875G>A
c.1506G>A (n.1506G>A)
c.*1015G>A (n.*1015G>A)
c.1534G>A (n.1534G>A)
c.*271G>A (n.*271G>A)
 gnomAD v4
5g.162153378G>CCA564438699GABRG2c.1439G>C
c.*10G>C (n.*10G>C)
c.1497G>C
n.692G>C
c.*4035G>C (n.*4035G>C)
c.1315G>C
c.2101G>C (n.2101G>C)
c.*1619G>C (n.*1619G>C)
c.*638G>C (n.*638G>C)
n.712G>C
n.6385G>C
c.876G>C
c.1507G>C (n.1507G>C)
c.*1016G>C (n.*1016G>C)
c.1535G>C (n.1535G>C)
c.*272G>C (n.*272G>C)
 dbSNP gnomAD v2 gnomAD v4
5g.162153378G=CA1596382327GABRG2c.1439G=
c.*10G= (n.*10G=)
c.1497G=
n.692G=
c.*4035G= (n.*4035G=)
c.1315G=
c.2101G= (n.2101G=)
c.*1619G= (n.*1619G=)
c.*638G= (n.*638G=)
n.712G=
n.6385G=
c.876G=
c.1507G= (n.1507G=)
c.*1016G= (n.*1016G=)
c.1535G= (n.1535G=)
c.*272G= (n.*272G=)
5g.162153378G>TCA2676331015GABRG2c.1439G>T
c.*10G>T (n.*10G>T)
c.1497G>T
n.692G>T
c.*4035G>T (n.*4035G>T)
c.1315G>T
c.2101G>T (n.2101G>T)
c.*1619G>T (n.*1619G>T)
c.*638G>T (n.*638G>T)
n.712G>T
n.6385G>T
c.876G>T
c.1507G>T (n.1507G>T)
c.*1016G>T (n.*1016G>T)
c.1535G>T (n.1535G>T)
c.*272G>T (n.*272G>T)
 gnomAD v4
5g.162153379G>ACA3545001GABRG2c.1440G>A
c.*11G>A (n.*11G>A)
c.1498G>A
n.693G>A
c.*4036G>A (n.*4036G>A)
c.1316G>A
c.2102G>A (n.2102G>A)
c.*1620G>A (n.*1620G>A)
c.*639G>A (n.*639G>A)
n.713G>A
n.6386G>A
c.877G>A
c.1508G>A (n.1508G>A)
c.*1017G>A (n.*1017G>A)
c.1536G>A (n.1536G>A)
c.*273G>A (n.*273G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.162153379G>CCA2676331016GABRG2c.1440G>C
c.*11G>C (n.*11G>C)
c.1498G>C
n.693G>C
c.*4036G>C (n.*4036G>C)
c.1316G>C
c.2102G>C (n.2102G>C)
c.*1620G>C (n.*1620G>C)
c.*639G>C (n.*639G>C)
n.713G>C
n.6386G>C
c.877G>C
c.1508G>C (n.1508G>C)
c.*1017G>C (n.*1017G>C)
c.1536G>C (n.1536G>C)
c.*273G>C (n.*273G>C)
 gnomAD v4
5g.162153379G=CA1596382329GABRG2c.1440G=
c.*11G= (n.*11G=)
c.1498G=
n.693G=
c.*4036G= (n.*4036G=)
c.1316G=
c.2102G= (n.2102G=)
c.*1620G= (n.*1620G=)
c.*639G= (n.*639G=)
n.713G=
n.6386G=
c.877G=
c.1508G= (n.1508G=)
c.*1017G= (n.*1017G=)
c.1536G= (n.1536G=)
c.*273G= (n.*273G=)

Number of alleles fetched