Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.162153171G>A | CA362183470 | GABRG2 | c.1232G>A c.1327G>A (p.Glu443Lys) c.1290G>A n.485G>A c.922G>A (p.Glu308Lys) c.946G>A (p.Glu316Lys) c.*3828G>A (n.*3828G>A) c.1108G>A c.598G>A (p.Glu200Lys) c.1207G>A (p.Glu403Lys) c.1231G>A (p.Glu411Lys) c.1894G>A (n.1894G>A) c.*1412G>A (n.*1412G>A) c.*431G>A (n.*431G>A) c.1165G>A (p.Glu389Lys) c.1141G>A (p.Glu381Lys) n.505G>A n.6178G>A c.669G>A c.1144G>A (p.Glu382Lys) c.1300G>A (p.Glu434Lys) c.1351G>A (p.Glu451Lys) c.*809G>A (n.*809G>A) c.1328G>A (n.1328G>A) c.1222G>A (p.Glu408Lys) c.*65G>A (n.*65G>A) c.1228G>A (p.Glu410Lys) c.1204G>A (p.Glu402Lys) c.1270G>A (p.Glu424Lys) c.787G>A (p.Glu263Lys) c.811G>A (p.Glu271Lys) | |
5 | g.162153171G>C | CA362183472 | GABRG2 | c.1232G>C c.1327G>C (p.Glu443Gln) c.1290G>C n.485G>C c.922G>C (p.Glu308Gln) c.946G>C (p.Glu316Gln) c.*3828G>C (n.*3828G>C) c.1108G>C c.598G>C (p.Glu200Gln) c.1207G>C (p.Glu403Gln) c.1231G>C (p.Glu411Gln) c.1894G>C (n.1894G>C) c.*1412G>C (n.*1412G>C) c.*431G>C (n.*431G>C) c.1165G>C (p.Glu389Gln) c.1141G>C (p.Glu381Gln) n.505G>C n.6178G>C c.669G>C c.1144G>C (p.Glu382Gln) c.1300G>C (p.Glu434Gln) c.1351G>C (p.Glu451Gln) c.*809G>C (n.*809G>C) c.1328G>C (n.1328G>C) c.1222G>C (p.Glu408Gln) c.*65G>C (n.*65G>C) c.1228G>C (p.Glu410Gln) c.1204G>C (p.Glu402Gln) c.1270G>C (p.Glu424Gln) c.787G>C (p.Glu263Gln) c.811G>C (p.Glu271Gln) | |
5 | g.162153171G>T | CA362183474 | GABRG2 | c.1232G>T c.1327G>T (p.Glu443Ter) c.1290G>T n.485G>T c.922G>T (p.Glu308Ter) c.946G>T (p.Glu316Ter) c.*3828G>T (n.*3828G>T) c.1108G>T c.598G>T (p.Glu200Ter) c.1207G>T (p.Glu403Ter) c.1231G>T (p.Glu411Ter) c.1894G>T (n.1894G>T) c.*1412G>T (n.*1412G>T) c.*431G>T (n.*431G>T) c.1165G>T (p.Glu389Ter) c.1141G>T (p.Glu381Ter) n.505G>T n.6178G>T c.669G>T c.1144G>T (p.Glu382Ter) c.1300G>T (p.Glu434Ter) c.1351G>T (p.Glu451Ter) c.*809G>T (n.*809G>T) c.1328G>T (n.1328G>T) c.1222G>T (p.Glu408Ter) c.*65G>T (n.*65G>T) c.1228G>T (p.Glu410Ter) c.1204G>T (p.Glu402Ter) c.1270G>T (p.Glu424Ter) c.787G>T (p.Glu263Ter) c.811G>T (p.Glu271Ter) | ClinVar |
5 | g.162153172A>C | CA362183477 | GABRG2 | c.1233A>C c.1328A>C (p.Glu443Ala) c.1291A>C n.486A>C c.923A>C (p.Glu308Ala) c.947A>C (p.Glu316Ala) c.*3829A>C (n.*3829A>C) c.1109A>C c.599A>C (p.Glu200Ala) c.1208A>C (p.Glu403Ala) c.1232A>C (p.Glu411Ala) c.1895A>C (n.1895A>C) c.*1413A>C (n.*1413A>C) c.*432A>C (n.*432A>C) c.1166A>C (p.Glu389Ala) c.1142A>C (p.Glu381Ala) n.506A>C n.6179A>C c.670A>C c.1145A>C (p.Glu382Ala) c.1301A>C (p.Glu434Ala) c.1352A>C (p.Glu451Ala) c.*810A>C (n.*810A>C) c.1329A>C (n.1329A>C) c.1223A>C (p.Glu408Ala) c.*66A>C (n.*66A>C) c.1229A>C (p.Glu410Ala) c.1205A>C (p.Glu402Ala) c.1271A>C (p.Glu424Ala) c.788A>C (p.Glu263Ala) c.812A>C (p.Glu271Ala) | |
5 | g.162153172A>G | CA362183478 | GABRG2 | c.1233A>G c.1328A>G (p.Glu443Gly) c.1291A>G n.486A>G c.923A>G (p.Glu308Gly) c.947A>G (p.Glu316Gly) c.*3829A>G (n.*3829A>G) c.1109A>G c.599A>G (p.Glu200Gly) c.1208A>G (p.Glu403Gly) c.1232A>G (p.Glu411Gly) c.1895A>G (n.1895A>G) c.*1413A>G (n.*1413A>G) c.*432A>G (n.*432A>G) c.1166A>G (p.Glu389Gly) c.1142A>G (p.Glu381Gly) n.506A>G n.6179A>G c.670A>G c.1145A>G (p.Glu382Gly) c.1301A>G (p.Glu434Gly) c.1352A>G (p.Glu451Gly) c.*810A>G (n.*810A>G) c.1329A>G (n.1329A>G) c.1223A>G (p.Glu408Gly) c.*66A>G (n.*66A>G) c.1229A>G (p.Glu410Gly) c.1205A>G (p.Glu402Gly) c.1271A>G (p.Glu424Gly) c.788A>G (p.Glu263Gly) c.812A>G (p.Glu271Gly) | |
5 | g.162153172A>T | CA362183481 | GABRG2 | c.1233A>T c.1328A>T (p.Glu443Val) c.1291A>T n.486A>T c.923A>T (p.Glu308Val) c.947A>T (p.Glu316Val) c.*3829A>T (n.*3829A>T) c.1109A>T c.599A>T (p.Glu200Val) c.1208A>T (p.Glu403Val) c.1232A>T (p.Glu411Val) c.1895A>T (n.1895A>T) c.*1413A>T (n.*1413A>T) c.*432A>T (n.*432A>T) c.1166A>T (p.Glu389Val) c.1142A>T (p.Glu381Val) n.506A>T n.6179A>T c.670A>T c.1145A>T (p.Glu382Val) c.1301A>T (p.Glu434Val) c.1352A>T (p.Glu451Val) c.*810A>T (n.*810A>T) c.1329A>T (n.1329A>T) c.1223A>T (p.Glu408Val) c.*66A>T (n.*66A>T) c.1229A>T (p.Glu410Val) c.1205A>T (p.Glu402Val) c.1271A>T (p.Glu424Val) c.788A>T (p.Glu263Val) c.812A>T (p.Glu271Val) | |
5 | g.162153173G>A | CA447691754 | GABRG2 | c.1234G>A c.1329G>A (p.Glu443=) c.1292G>A n.487G>A c.924G>A (p.Glu308=) c.948G>A (p.Glu316=) c.*3830G>A (n.*3830G>A) c.1110G>A c.600G>A (p.Glu200=) c.1209G>A (p.Glu403=) c.1233G>A (p.Glu411=) c.1896G>A (n.1896G>A) c.*1414G>A (n.*1414G>A) c.*433G>A (n.*433G>A) c.1167G>A (p.Glu389=) c.1143G>A (p.Glu381=) n.507G>A n.6180G>A c.671G>A c.1146G>A (p.Glu382=) c.1302G>A (p.Glu434=) c.1353G>A (p.Glu451=) c.*811G>A (n.*811G>A) c.1330G>A (n.1330G>A) c.1224G>A (p.Glu408=) c.*67G>A (n.*67G>A) c.1230G>A (p.Glu410=) c.1206G>A (p.Glu402=) c.1272G>A (p.Glu424=) c.789G>A (p.Glu263=) c.813G>A (p.Glu271=) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.162153173G>C | CA362183484 | GABRG2 | c.1234G>C c.1329G>C (p.Glu443Asp) c.1292G>C n.487G>C c.924G>C (p.Glu308Asp) c.948G>C (p.Glu316Asp) c.*3830G>C (n.*3830G>C) c.1110G>C c.600G>C (p.Glu200Asp) c.1209G>C (p.Glu403Asp) c.1233G>C (p.Glu411Asp) c.1896G>C (n.1896G>C) c.*1414G>C (n.*1414G>C) c.*433G>C (n.*433G>C) c.1167G>C (p.Glu389Asp) c.1143G>C (p.Glu381Asp) n.507G>C n.6180G>C c.671G>C c.1146G>C (p.Glu382Asp) c.1302G>C (p.Glu434Asp) c.1353G>C (p.Glu451Asp) c.*811G>C (n.*811G>C) c.1330G>C (n.1330G>C) c.1224G>C (p.Glu408Asp) c.*67G>C (n.*67G>C) c.1230G>C (p.Glu410Asp) c.1206G>C (p.Glu402Asp) c.1272G>C (p.Glu424Asp) c.789G>C (p.Glu263Asp) c.813G>C (p.Glu271Asp) | |
5 | g.162153173G= | CA1596382034 | GABRG2 | c.1234G= c.1329G= (p.Glu443=) c.1292G= n.487G= c.924G= (p.Glu308=) c.948G= (p.Glu316=) c.*3830G= (n.*3830G=) c.1110G= c.600G= (p.Glu200=) c.1209G= (p.Glu403=) c.1233G= (p.Glu411=) c.1896G= (n.1896G=) c.*1414G= (n.*1414G=) c.*433G= (n.*433G=) c.1167G= (p.Glu389=) c.1143G= (p.Glu381=) n.507G= n.6180G= c.671G= c.1146G= (p.Glu382=) c.1302G= (p.Glu434=) c.1353G= (p.Glu451=) c.*811G= (n.*811G=) c.1330G= (n.1330G=) c.1224G= (p.Glu408=) c.*67G= (n.*67G=) c.1230G= (p.Glu410=) c.1206G= (p.Glu402=) c.1272G= (p.Glu424=) c.789G= (p.Glu263=) c.813G= (p.Glu271=) | |
5 | g.162153173G>T | CA362183486 | GABRG2 | c.1234G>T c.1329G>T (p.Glu443Asp) c.1292G>T n.487G>T c.924G>T (p.Glu308Asp) c.948G>T (p.Glu316Asp) c.*3830G>T (n.*3830G>T) c.1110G>T c.600G>T (p.Glu200Asp) c.1209G>T (p.Glu403Asp) c.1233G>T (p.Glu411Asp) c.1896G>T (n.1896G>T) c.*1414G>T (n.*1414G>T) c.*433G>T (n.*433G>T) c.1167G>T (p.Glu389Asp) c.1143G>T (p.Glu381Asp) n.507G>T n.6180G>T c.671G>T c.1146G>T (p.Glu382Asp) c.1302G>T (p.Glu434Asp) c.1353G>T (p.Glu451Asp) c.*811G>T (n.*811G>T) c.1330G>T (n.1330G>T) c.1224G>T (p.Glu408Asp) c.*67G>T (n.*67G>T) c.1230G>T (p.Glu410Asp) c.1206G>T (p.Glu402Asp) c.1272G>T (p.Glu424Asp) c.789G>T (p.Glu263Asp) c.813G>T (p.Glu271Asp) | |
5 | g.162153174T>A | CA362183494 | GABRG2 | c.1235T>A c.1330T>A (p.Tyr444Asn) c.1293T>A n.488T>A c.925T>A (p.Tyr309Asn) c.949T>A (p.Tyr317Asn) c.*3831T>A (n.*3831T>A) c.1111T>A c.601T>A (p.Tyr201Asn) c.1210T>A (p.Tyr404Asn) c.1234T>A (p.Tyr412Asn) c.1897T>A (n.1897T>A) c.*1415T>A (n.*1415T>A) c.*434T>A (n.*434T>A) c.1168T>A (p.Tyr390Asn) c.1144T>A (p.Tyr382Asn) n.508T>A n.6181T>A c.672T>A c.1147T>A (p.Tyr383Asn) c.1303T>A (p.Tyr435Asn) c.1354T>A (p.Tyr452Asn) c.*812T>A (n.*812T>A) c.1331T>A (n.1331T>A) c.1225T>A (p.Tyr409Asn) c.*68T>A (n.*68T>A) c.1231T>A (p.Tyr411Asn) c.1207T>A (p.Tyr403Asn) c.1273T>A (p.Tyr425Asn) c.790T>A (p.Tyr264Asn) c.814T>A (p.Tyr272Asn) | |
5 | g.162153174T>C | CA362183492 | GABRG2 | c.1235T>C c.1330T>C (p.Tyr444His) c.1293T>C n.488T>C c.925T>C (p.Tyr309His) c.949T>C (p.Tyr317His) c.*3831T>C (n.*3831T>C) c.1111T>C c.601T>C (p.Tyr201His) c.1210T>C (p.Tyr404His) c.1234T>C (p.Tyr412His) c.1897T>C (n.1897T>C) c.*1415T>C (n.*1415T>C) c.*434T>C (n.*434T>C) c.1168T>C (p.Tyr390His) c.1144T>C (p.Tyr382His) n.508T>C n.6181T>C c.672T>C c.1147T>C (p.Tyr383His) c.1303T>C (p.Tyr435His) c.1354T>C (p.Tyr452His) c.*812T>C (n.*812T>C) c.1331T>C (n.1331T>C) c.1225T>C (p.Tyr409His) c.*68T>C (n.*68T>C) c.1231T>C (p.Tyr411His) c.1207T>C (p.Tyr403His) c.1273T>C (p.Tyr425His) c.790T>C (p.Tyr264His) c.814T>C (p.Tyr272His) | |
5 | g.162153174T>G | CA362183489 | GABRG2 | c.1235T>G c.1330T>G (p.Tyr444Asp) c.1293T>G n.488T>G c.925T>G (p.Tyr309Asp) c.949T>G (p.Tyr317Asp) c.*3831T>G (n.*3831T>G) c.1111T>G c.601T>G (p.Tyr201Asp) c.1210T>G (p.Tyr404Asp) c.1234T>G (p.Tyr412Asp) c.1897T>G (n.1897T>G) c.*1415T>G (n.*1415T>G) c.*434T>G (n.*434T>G) c.1168T>G (p.Tyr390Asp) c.1144T>G (p.Tyr382Asp) n.508T>G n.6181T>G c.672T>G c.1147T>G (p.Tyr383Asp) c.1303T>G (p.Tyr435Asp) c.1354T>G (p.Tyr452Asp) c.*812T>G (n.*812T>G) c.1331T>G (n.1331T>G) c.1225T>G (p.Tyr409Asp) c.*68T>G (n.*68T>G) c.1231T>G (p.Tyr411Asp) c.1207T>G (p.Tyr403Asp) c.1273T>G (p.Tyr425Asp) c.790T>G (p.Tyr264Asp) c.814T>G (p.Tyr272Asp) | |
5 | g.162153175A>C | CA362183497 | GABRG2 | c.1236A>C c.1331A>C (p.Tyr444Ser) c.1294A>C n.489A>C c.926A>C (p.Tyr309Ser) c.950A>C (p.Tyr317Ser) c.*3832A>C (n.*3832A>C) c.1112A>C c.602A>C (p.Tyr201Ser) c.1211A>C (p.Tyr404Ser) c.1235A>C (p.Tyr412Ser) c.1898A>C (n.1898A>C) c.*1416A>C (n.*1416A>C) c.*435A>C (n.*435A>C) c.1169A>C (p.Tyr390Ser) c.1145A>C (p.Tyr382Ser) n.509A>C n.6182A>C c.673A>C c.1148A>C (p.Tyr383Ser) c.1304A>C (p.Tyr435Ser) c.1355A>C (p.Tyr452Ser) c.*813A>C (n.*813A>C) c.1332A>C (n.1332A>C) c.1226A>C (p.Tyr409Ser) c.*69A>C (n.*69A>C) c.1232A>C (p.Tyr411Ser) c.1208A>C (p.Tyr403Ser) c.1274A>C (p.Tyr425Ser) c.791A>C (p.Tyr264Ser) c.815A>C (p.Tyr272Ser) | |
5 | g.162153175A>G | CA362183499 | GABRG2 | c.1236A>G c.1331A>G (p.Tyr444Cys) c.1294A>G n.489A>G c.926A>G (p.Tyr309Cys) c.950A>G (p.Tyr317Cys) c.*3832A>G (n.*3832A>G) c.1112A>G c.602A>G (p.Tyr201Cys) c.1211A>G (p.Tyr404Cys) c.1235A>G (p.Tyr412Cys) c.1898A>G (n.1898A>G) c.*1416A>G (n.*1416A>G) c.*435A>G (n.*435A>G) c.1169A>G (p.Tyr390Cys) c.1145A>G (p.Tyr382Cys) n.509A>G n.6182A>G c.673A>G c.1148A>G (p.Tyr383Cys) c.1304A>G (p.Tyr435Cys) c.1355A>G (p.Tyr452Cys) c.*813A>G (n.*813A>G) c.1332A>G (n.1332A>G) c.1226A>G (p.Tyr409Cys) c.*69A>G (n.*69A>G) c.1232A>G (p.Tyr411Cys) c.1208A>G (p.Tyr403Cys) c.1274A>G (p.Tyr425Cys) c.791A>G (p.Tyr264Cys) c.815A>G (p.Tyr272Cys) | |
5 | g.162153175A>T | CA362183501 | GABRG2 | c.1236A>T c.1331A>T (p.Tyr444Phe) c.1294A>T n.489A>T c.926A>T (p.Tyr309Phe) c.950A>T (p.Tyr317Phe) c.*3832A>T (n.*3832A>T) c.1112A>T c.602A>T (p.Tyr201Phe) c.1211A>T (p.Tyr404Phe) c.1235A>T (p.Tyr412Phe) c.1898A>T (n.1898A>T) c.*1416A>T (n.*1416A>T) c.*435A>T (n.*435A>T) c.1169A>T (p.Tyr390Phe) c.1145A>T (p.Tyr382Phe) n.509A>T n.6182A>T c.673A>T c.1148A>T (p.Tyr383Phe) c.1304A>T (p.Tyr435Phe) c.1355A>T (p.Tyr452Phe) c.*813A>T (n.*813A>T) c.1332A>T (n.1332A>T) c.1226A>T (p.Tyr409Phe) c.*69A>T (n.*69A>T) c.1232A>T (p.Tyr411Phe) c.1208A>T (p.Tyr403Phe) c.1274A>T (p.Tyr425Phe) c.791A>T (p.Tyr264Phe) c.815A>T (p.Tyr272Phe) | |
5 | g.162153176C>A | CA362183505 | GABRG2 | c.1237C>A c.1332C>A (p.Tyr444Ter) c.1295C>A n.490C>A c.927C>A (p.Tyr309Ter) c.951C>A (p.Tyr317Ter) c.*3833C>A (n.*3833C>A) c.1113C>A c.603C>A (p.Tyr201Ter) c.1212C>A (p.Tyr404Ter) c.1236C>A (p.Tyr412Ter) c.1899C>A (n.1899C>A) c.*1417C>A (n.*1417C>A) c.*436C>A (n.*436C>A) c.1170C>A (p.Tyr390Ter) c.1146C>A (p.Tyr382Ter) n.510C>A n.6183C>A c.674C>A c.1149C>A (p.Tyr383Ter) c.1305C>A (p.Tyr435Ter) c.1356C>A (p.Tyr452Ter) c.*814C>A (n.*814C>A) c.1333C>A (n.1333C>A) c.1227C>A (p.Tyr409Ter) c.*70C>A (n.*70C>A) c.1233C>A (p.Tyr411Ter) c.1209C>A (p.Tyr403Ter) c.1275C>A (p.Tyr425Ter) c.792C>A (p.Tyr264Ter) c.816C>A (p.Tyr272Ter) | ClinVar |
5 | g.162153176C= | CA1596382042 | GABRG2 | c.1237C= c.1332C= (p.Tyr444=) c.1295C= n.490C= c.927C= (p.Tyr309=) c.951C= (p.Tyr317=) c.*3833C= (n.*3833C=) c.1113C= c.603C= (p.Tyr201=) c.1212C= (p.Tyr404=) c.1236C= (p.Tyr412=) c.1899C= (n.1899C=) c.*1417C= (n.*1417C=) c.*436C= (n.*436C=) c.1170C= (p.Tyr390=) c.1146C= (p.Tyr382=) n.510C= n.6183C= c.674C= c.1149C= (p.Tyr383=) c.1305C= (p.Tyr435=) c.1356C= (p.Tyr452=) c.*814C= (n.*814C=) c.1333C= (n.1333C=) c.1227C= (p.Tyr409=) c.*70C= (n.*70C=) c.1233C= (p.Tyr411=) c.1209C= (p.Tyr403=) c.1275C= (p.Tyr425=) c.792C= (p.Tyr264=) c.816C= (p.Tyr272=) | |
5 | g.162153176C>G | CA362183507 | GABRG2 | c.1237C>G c.1332C>G (p.Tyr444Ter) c.1295C>G n.490C>G c.927C>G (p.Tyr309Ter) c.951C>G (p.Tyr317Ter) c.*3833C>G (n.*3833C>G) c.1113C>G c.603C>G (p.Tyr201Ter) c.1212C>G (p.Tyr404Ter) c.1236C>G (p.Tyr412Ter) c.1899C>G (n.1899C>G) c.*1417C>G (n.*1417C>G) c.*436C>G (n.*436C>G) c.1170C>G (p.Tyr390Ter) c.1146C>G (p.Tyr382Ter) n.510C>G n.6183C>G c.674C>G c.1149C>G (p.Tyr383Ter) c.1305C>G (p.Tyr435Ter) c.1356C>G (p.Tyr452Ter) c.*814C>G (n.*814C>G) c.1333C>G (n.1333C>G) c.1227C>G (p.Tyr409Ter) c.*70C>G (n.*70C>G) c.1233C>G (p.Tyr411Ter) c.1209C>G (p.Tyr403Ter) c.1275C>G (p.Tyr425Ter) c.792C>G (p.Tyr264Ter) c.816C>G (p.Tyr272Ter) | |
5 | g.162153176C>T | CA314695 | GABRG2 | c.1237C>T c.1332C>T (p.Tyr444=) c.1295C>T n.490C>T c.927C>T (p.Tyr309=) c.951C>T (p.Tyr317=) c.*3833C>T (n.*3833C>T) c.1113C>T c.603C>T (p.Tyr201=) c.1212C>T (p.Tyr404=) c.1236C>T (p.Tyr412=) c.1899C>T (n.1899C>T) c.*1417C>T (n.*1417C>T) c.*436C>T (n.*436C>T) c.1170C>T (p.Tyr390=) c.1146C>T (p.Tyr382=) n.510C>T n.6183C>T c.674C>T c.1149C>T (p.Tyr383=) c.1305C>T (p.Tyr435=) c.1356C>T (p.Tyr452=) c.*814C>T (n.*814C>T) c.1333C>T (n.1333C>T) c.1227C>T (p.Tyr409=) c.*70C>T (n.*70C>T) c.1233C>T (p.Tyr411=) c.1209C>T (p.Tyr403=) c.1275C>T (p.Tyr425=) c.792C>T (p.Tyr264=) c.816C>T (p.Tyr272=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
5 | g.162153177G>A | CA362183513 | GABRG2 | c.1238G>A c.1333G>A (p.Gly445Ser) c.1296G>A n.491G>A c.928G>A (p.Gly310Ser) c.952G>A (p.Gly318Ser) c.*3834G>A (n.*3834G>A) c.1114G>A c.604G>A (p.Gly202Ser) c.1213G>A (p.Gly405Ser) c.1237G>A (p.Gly413Ser) c.1900G>A (n.1900G>A) c.*1418G>A (n.*1418G>A) c.*437G>A (n.*437G>A) c.1171G>A (p.Gly391Ser) c.1147G>A (p.Gly383Ser) n.511G>A n.6184G>A c.675G>A c.1150G>A (p.Gly384Ser) c.1306G>A (p.Gly436Ser) c.1357G>A (p.Gly453Ser) c.*815G>A (n.*815G>A) c.1334G>A (n.1334G>A) c.1228G>A (p.Gly410Ser) c.*71G>A (n.*71G>A) c.1234G>A (p.Gly412Ser) c.1210G>A (p.Gly404Ser) c.1276G>A (p.Gly426Ser) c.793G>A (p.Gly265Ser) c.817G>A (p.Gly273Ser) | ClinVar dbSNP gnomAD v4 COSMIC |
5 | g.162153177G>C | CA362183515 | GABRG2 | c.1238G>C c.1333G>C (p.Gly445Arg) c.1296G>C n.491G>C c.928G>C (p.Gly310Arg) c.952G>C (p.Gly318Arg) c.*3834G>C (n.*3834G>C) c.1114G>C c.604G>C (p.Gly202Arg) c.1213G>C (p.Gly405Arg) c.1237G>C (p.Gly413Arg) c.1900G>C (n.1900G>C) c.*1418G>C (n.*1418G>C) c.*437G>C (n.*437G>C) c.1171G>C (p.Gly391Arg) c.1147G>C (p.Gly383Arg) n.511G>C n.6184G>C c.675G>C c.1150G>C (p.Gly384Arg) c.1306G>C (p.Gly436Arg) c.1357G>C (p.Gly453Arg) c.*815G>C (n.*815G>C) c.1334G>C (n.1334G>C) c.1228G>C (p.Gly410Arg) c.*71G>C (n.*71G>C) c.1234G>C (p.Gly412Arg) c.1210G>C (p.Gly404Arg) c.1276G>C (p.Gly426Arg) c.793G>C (p.Gly265Arg) c.817G>C (p.Gly273Arg) | |
5 | g.162153177G= | CA1596382049 | GABRG2 | c.1238G= c.1333G= (p.Gly445=) c.1296G= n.491G= c.928G= (p.Gly310=) c.952G= (p.Gly318=) c.*3834G= (n.*3834G=) c.1114G= c.604G= (p.Gly202=) c.1213G= (p.Gly405=) c.1237G= (p.Gly413=) c.1900G= (n.1900G=) c.*1418G= (n.*1418G=) c.*437G= (n.*437G=) c.1171G= (p.Gly391=) c.1147G= (p.Gly383=) n.511G= n.6184G= c.675G= c.1150G= (p.Gly384=) c.1306G= (p.Gly436=) c.1357G= (p.Gly453=) c.*815G= (n.*815G=) c.1334G= (n.1334G=) c.1228G= (p.Gly410=) c.*71G= (n.*71G=) c.1234G= (p.Gly412=) c.1210G= (p.Gly404=) c.1276G= (p.Gly426=) c.793G= (p.Gly265=) c.817G= (p.Gly273=) | |
5 | g.162153177G>T | CA362183517 | GABRG2 | c.1238G>T c.1333G>T (p.Gly445Cys) c.1296G>T n.491G>T c.928G>T (p.Gly310Cys) c.952G>T (p.Gly318Cys) c.*3834G>T (n.*3834G>T) c.1114G>T c.604G>T (p.Gly202Cys) c.1213G>T (p.Gly405Cys) c.1237G>T (p.Gly413Cys) c.1900G>T (n.1900G>T) c.*1418G>T (n.*1418G>T) c.*437G>T (n.*437G>T) c.1171G>T (p.Gly391Cys) c.1147G>T (p.Gly383Cys) n.511G>T n.6184G>T c.675G>T c.1150G>T (p.Gly384Cys) c.1306G>T (p.Gly436Cys) c.1357G>T (p.Gly453Cys) c.*815G>T (n.*815G>T) c.1334G>T (n.1334G>T) c.1228G>T (p.Gly410Cys) c.*71G>T (n.*71G>T) c.1234G>T (p.Gly412Cys) c.1210G>T (p.Gly404Cys) c.1276G>T (p.Gly426Cys) c.793G>T (p.Gly265Cys) c.817G>T (p.Gly273Cys) | |
5 | g.162153178G>A | CA362183521 | GABRG2 | c.1239G>A c.1334G>A (p.Gly445Asp) c.1297G>A n.492G>A c.929G>A (p.Gly310Asp) c.953G>A (p.Gly318Asp) c.*3835G>A (n.*3835G>A) c.1115G>A c.605G>A (p.Gly202Asp) c.1214G>A (p.Gly405Asp) c.1238G>A (p.Gly413Asp) c.1901G>A (n.1901G>A) c.*1419G>A (n.*1419G>A) c.*438G>A (n.*438G>A) c.1172G>A (p.Gly391Asp) c.1148G>A (p.Gly383Asp) n.512G>A n.6185G>A c.676G>A c.1151G>A (p.Gly384Asp) c.1307G>A (p.Gly436Asp) c.1358G>A (p.Gly453Asp) c.*816G>A (n.*816G>A) c.1335G>A (n.1335G>A) c.1229G>A (p.Gly410Asp) c.*72G>A (n.*72G>A) c.1235G>A (p.Gly412Asp) c.1211G>A (p.Gly404Asp) c.1277G>A (p.Gly426Asp) c.794G>A (p.Gly265Asp) c.818G>A (p.Gly273Asp) | gnomAD v4 |
5 | g.162153178G>C | CA362183523 | GABRG2 | c.1239G>C c.1334G>C (p.Gly445Ala) c.1297G>C n.492G>C c.929G>C (p.Gly310Ala) c.953G>C (p.Gly318Ala) c.*3835G>C (n.*3835G>C) c.1115G>C c.605G>C (p.Gly202Ala) c.1214G>C (p.Gly405Ala) c.1238G>C (p.Gly413Ala) c.1901G>C (n.1901G>C) c.*1419G>C (n.*1419G>C) c.*438G>C (n.*438G>C) c.1172G>C (p.Gly391Ala) c.1148G>C (p.Gly383Ala) n.512G>C n.6185G>C c.676G>C c.1151G>C (p.Gly384Ala) c.1307G>C (p.Gly436Ala) c.1358G>C (p.Gly453Ala) c.*816G>C (n.*816G>C) c.1335G>C (n.1335G>C) c.1229G>C (p.Gly410Ala) c.*72G>C (n.*72G>C) c.1235G>C (p.Gly412Ala) c.1211G>C (p.Gly404Ala) c.1277G>C (p.Gly426Ala) c.794G>C (p.Gly265Ala) c.818G>C (p.Gly273Ala) | |
5 | g.162153178G>T | CA362183525 | GABRG2 | c.1239G>T c.1334G>T (p.Gly445Val) c.1297G>T n.492G>T c.929G>T (p.Gly310Val) c.953G>T (p.Gly318Val) c.*3835G>T (n.*3835G>T) c.1115G>T c.605G>T (p.Gly202Val) c.1214G>T (p.Gly405Val) c.1238G>T (p.Gly413Val) c.1901G>T (n.1901G>T) c.*1419G>T (n.*1419G>T) c.*438G>T (n.*438G>T) c.1172G>T (p.Gly391Val) c.1148G>T (p.Gly383Val) n.512G>T n.6185G>T c.676G>T c.1151G>T (p.Gly384Val) c.1307G>T (p.Gly436Val) c.1358G>T (p.Gly453Val) c.*816G>T (n.*816G>T) c.1335G>T (n.1335G>T) c.1229G>T (p.Gly410Val) c.*72G>T (n.*72G>T) c.1235G>T (p.Gly412Val) c.1211G>T (p.Gly404Val) c.1277G>T (p.Gly426Val) c.794G>T (p.Gly265Val) c.818G>T (p.Gly273Val) | |
5 | g.162153179C>A | CA447691760 | GABRG2 | c.1240C>A c.1335C>A (p.Gly445=) c.1298C>A n.493C>A c.930C>A (p.Gly310=) c.954C>A (p.Gly318=) c.*3836C>A (n.*3836C>A) c.1116C>A c.606C>A (p.Gly202=) c.1215C>A (p.Gly405=) c.1239C>A (p.Gly413=) c.1902C>A (n.1902C>A) c.*1420C>A (n.*1420C>A) c.*439C>A (n.*439C>A) c.1173C>A (p.Gly391=) c.1149C>A (p.Gly383=) n.513C>A n.6186C>A c.677C>A c.1152C>A (p.Gly384=) c.1308C>A (p.Gly436=) c.1359C>A (p.Gly453=) c.*817C>A (n.*817C>A) c.1336C>A (n.1336C>A) c.1230C>A (p.Gly410=) c.*73C>A (n.*73C>A) c.1236C>A (p.Gly412=) c.1212C>A (p.Gly404=) c.1278C>A (p.Gly426=) c.795C>A (p.Gly265=) c.819C>A (p.Gly273=) | |
5 | g.162153179C= | CA1596382053 | GABRG2 | c.1240C= c.1335C= (p.Gly445=) c.1298C= n.493C= c.930C= (p.Gly310=) c.954C= (p.Gly318=) c.*3836C= (n.*3836C=) c.1116C= c.606C= (p.Gly202=) c.1215C= (p.Gly405=) c.1239C= (p.Gly413=) c.1902C= (n.1902C=) c.*1420C= (n.*1420C=) c.*439C= (n.*439C=) c.1173C= (p.Gly391=) c.1149C= (p.Gly383=) n.513C= n.6186C= c.677C= c.1152C= (p.Gly384=) c.1308C= (p.Gly436=) c.1359C= (p.Gly453=) c.*817C= (n.*817C=) c.1336C= (n.1336C=) c.1230C= (p.Gly410=) c.*73C= (n.*73C=) c.1236C= (p.Gly412=) c.1212C= (p.Gly404=) c.1278C= (p.Gly426=) c.795C= (p.Gly265=) c.819C= (p.Gly273=) | |
5 | g.162153179C>G | CA447691761 | GABRG2 | c.1240C>G c.1335C>G (p.Gly445=) c.1298C>G n.493C>G c.930C>G (p.Gly310=) c.954C>G (p.Gly318=) c.*3836C>G (n.*3836C>G) c.1116C>G c.606C>G (p.Gly202=) c.1215C>G (p.Gly405=) c.1239C>G (p.Gly413=) c.1902C>G (n.1902C>G) c.*1420C>G (n.*1420C>G) c.*439C>G (n.*439C>G) c.1173C>G (p.Gly391=) c.1149C>G (p.Gly383=) n.513C>G n.6186C>G c.677C>G c.1152C>G (p.Gly384=) c.1308C>G (p.Gly436=) c.1359C>G (p.Gly453=) c.*817C>G (n.*817C>G) c.1336C>G (n.1336C>G) c.1230C>G (p.Gly410=) c.*73C>G (n.*73C>G) c.1236C>G (p.Gly412=) c.1212C>G (p.Gly404=) c.1278C>G (p.Gly426=) c.795C>G (p.Gly265=) c.819C>G (p.Gly273=) | |
5 | g.162153179C>T | CA447691762 | GABRG2 | c.1240C>T c.1335C>T (p.Gly445=) c.1298C>T n.493C>T c.930C>T (p.Gly310=) c.954C>T (p.Gly318=) c.*3836C>T (n.*3836C>T) c.1116C>T c.606C>T (p.Gly202=) c.1215C>T (p.Gly405=) c.1239C>T (p.Gly413=) c.1902C>T (n.1902C>T) c.*1420C>T (n.*1420C>T) c.*439C>T (n.*439C>T) c.1173C>T (p.Gly391=) c.1149C>T (p.Gly383=) n.513C>T n.6186C>T c.677C>T c.1152C>T (p.Gly384=) c.1308C>T (p.Gly436=) c.1359C>T (p.Gly453=) c.*817C>T (n.*817C>T) c.1336C>T (n.1336C>T) c.1230C>T (p.Gly410=) c.*73C>T (n.*73C>T) c.1236C>T (p.Gly412=) c.1212C>T (p.Gly404=) c.1278C>T (p.Gly426=) c.795C>T (p.Gly265=) c.819C>T (p.Gly273=) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.162153180T>A | CA362183533 | GABRG2 | c.1241T>A c.1336T>A (p.Tyr446Asn) c.1299T>A n.494T>A c.931T>A (p.Tyr311Asn) c.955T>A (p.Tyr319Asn) c.*3837T>A (n.*3837T>A) c.1117T>A c.607T>A (p.Tyr203Asn) c.1216T>A (p.Tyr406Asn) c.1240T>A (p.Tyr414Asn) c.1903T>A (n.1903T>A) c.*1421T>A (n.*1421T>A) c.*440T>A (n.*440T>A) c.1174T>A (p.Tyr392Asn) c.1150T>A (p.Tyr384Asn) n.514T>A n.6187T>A c.678T>A c.1153T>A (p.Tyr385Asn) c.1309T>A (p.Tyr437Asn) c.1360T>A (p.Tyr454Asn) c.*818T>A (n.*818T>A) c.1337T>A (n.1337T>A) c.1231T>A (p.Tyr411Asn) c.*74T>A (n.*74T>A) c.1237T>A (p.Tyr413Asn) c.1213T>A (p.Tyr405Asn) c.1279T>A (p.Tyr427Asn) c.796T>A (p.Tyr266Asn) c.820T>A (p.Tyr274Asn) | |
5 | g.162153180T>C | CA362183531 | GABRG2 | c.1241T>C c.1336T>C (p.Tyr446His) c.1299T>C n.494T>C c.931T>C (p.Tyr311His) c.955T>C (p.Tyr319His) c.*3837T>C (n.*3837T>C) c.1117T>C c.607T>C (p.Tyr203His) c.1216T>C (p.Tyr406His) c.1240T>C (p.Tyr414His) c.1903T>C (n.1903T>C) c.*1421T>C (n.*1421T>C) c.*440T>C (n.*440T>C) c.1174T>C (p.Tyr392His) c.1150T>C (p.Tyr384His) n.514T>C n.6187T>C c.678T>C c.1153T>C (p.Tyr385His) c.1309T>C (p.Tyr437His) c.1360T>C (p.Tyr454His) c.*818T>C (n.*818T>C) c.1337T>C (n.1337T>C) c.1231T>C (p.Tyr411His) c.*74T>C (n.*74T>C) c.1237T>C (p.Tyr413His) c.1213T>C (p.Tyr405His) c.1279T>C (p.Tyr427His) c.796T>C (p.Tyr266His) c.820T>C (p.Tyr274His) | gnomAD v4 |
5 | g.162153180T>G | CA362183528 | GABRG2 | c.1241T>G c.1336T>G (p.Tyr446Asp) c.1299T>G n.494T>G c.931T>G (p.Tyr311Asp) c.955T>G (p.Tyr319Asp) c.*3837T>G (n.*3837T>G) c.1117T>G c.607T>G (p.Tyr203Asp) c.1216T>G (p.Tyr406Asp) c.1240T>G (p.Tyr414Asp) c.1903T>G (n.1903T>G) c.*1421T>G (n.*1421T>G) c.*440T>G (n.*440T>G) c.1174T>G (p.Tyr392Asp) c.1150T>G (p.Tyr384Asp) n.514T>G n.6187T>G c.678T>G c.1153T>G (p.Tyr385Asp) c.1309T>G (p.Tyr437Asp) c.1360T>G (p.Tyr454Asp) c.*818T>G (n.*818T>G) c.1337T>G (n.1337T>G) c.1231T>G (p.Tyr411Asp) c.*74T>G (n.*74T>G) c.1237T>G (p.Tyr413Asp) c.1213T>G (p.Tyr405Asp) c.1279T>G (p.Tyr427Asp) c.796T>G (p.Tyr266Asp) c.820T>G (p.Tyr274Asp) | |
5 | g.162153181A= | CA1596382056 | GABRG2 | c.1242A= c.1337A= (p.Tyr446=) c.1300A= n.495A= c.932A= (p.Tyr311=) c.956A= (p.Tyr319=) c.*3838A= (n.*3838A=) c.1118A= c.608A= (p.Tyr203=) c.1217A= (p.Tyr406=) c.1241A= (p.Tyr414=) c.1904A= (n.1904A=) c.*1422A= (n.*1422A=) c.*441A= (n.*441A=) c.1175A= (p.Tyr392=) c.1151A= (p.Tyr384=) n.515A= n.6188A= c.679A= c.1154A= (p.Tyr385=) c.1310A= (p.Tyr437=) c.1361A= (p.Tyr454=) c.*819A= (n.*819A=) c.1338A= (n.1338A=) c.1232A= (p.Tyr411=) c.*75A= (n.*75A=) c.1238A= (p.Tyr413=) c.1214A= (p.Tyr405=) c.1280A= (p.Tyr427=) c.797A= (p.Tyr266=) c.821A= (p.Tyr274=) | |
5 | g.162153181A>C | CA362183536 | GABRG2 | c.1242A>C c.1337A>C (p.Tyr446Ser) c.1300A>C n.495A>C c.932A>C (p.Tyr311Ser) c.956A>C (p.Tyr319Ser) c.*3838A>C (n.*3838A>C) c.1118A>C c.608A>C (p.Tyr203Ser) c.1217A>C (p.Tyr406Ser) c.1241A>C (p.Tyr414Ser) c.1904A>C (n.1904A>C) c.*1422A>C (n.*1422A>C) c.*441A>C (n.*441A>C) c.1175A>C (p.Tyr392Ser) c.1151A>C (p.Tyr384Ser) n.515A>C n.6188A>C c.679A>C c.1154A>C (p.Tyr385Ser) c.1310A>C (p.Tyr437Ser) c.1361A>C (p.Tyr454Ser) c.*819A>C (n.*819A>C) c.1338A>C (n.1338A>C) c.1232A>C (p.Tyr411Ser) c.*75A>C (n.*75A>C) c.1238A>C (p.Tyr413Ser) c.1214A>C (p.Tyr405Ser) c.1280A>C (p.Tyr427Ser) c.797A>C (p.Tyr266Ser) c.821A>C (p.Tyr274Ser) | |
5 | g.162153181A>G | CA362183534 | GABRG2 | c.1242A>G c.1337A>G (p.Tyr446Cys) c.1300A>G n.495A>G c.932A>G (p.Tyr311Cys) c.956A>G (p.Tyr319Cys) c.*3838A>G (n.*3838A>G) c.1118A>G c.608A>G (p.Tyr203Cys) c.1217A>G (p.Tyr406Cys) c.1241A>G (p.Tyr414Cys) c.1904A>G (n.1904A>G) c.*1422A>G (n.*1422A>G) c.*441A>G (n.*441A>G) c.1175A>G (p.Tyr392Cys) c.1151A>G (p.Tyr384Cys) n.515A>G n.6188A>G c.679A>G c.1154A>G (p.Tyr385Cys) c.1310A>G (p.Tyr437Cys) c.1361A>G (p.Tyr454Cys) c.*819A>G (n.*819A>G) c.1338A>G (n.1338A>G) c.1232A>G (p.Tyr411Cys) c.*75A>G (n.*75A>G) c.1238A>G (p.Tyr413Cys) c.1214A>G (p.Tyr405Cys) c.1280A>G (p.Tyr427Cys) c.797A>G (p.Tyr266Cys) c.821A>G (p.Tyr274Cys) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.162153181A>T | CA362183535 | GABRG2 | c.1242A>T c.1337A>T (p.Tyr446Phe) c.1300A>T n.495A>T c.932A>T (p.Tyr311Phe) c.956A>T (p.Tyr319Phe) c.*3838A>T (n.*3838A>T) c.1118A>T c.608A>T (p.Tyr203Phe) c.1217A>T (p.Tyr406Phe) c.1241A>T (p.Tyr414Phe) c.1904A>T (n.1904A>T) c.*1422A>T (n.*1422A>T) c.*441A>T (n.*441A>T) c.1175A>T (p.Tyr392Phe) c.1151A>T (p.Tyr384Phe) n.515A>T n.6188A>T c.679A>T c.1154A>T (p.Tyr385Phe) c.1310A>T (p.Tyr437Phe) c.1361A>T (p.Tyr454Phe) c.*819A>T (n.*819A>T) c.1338A>T (n.1338A>T) c.1232A>T (p.Tyr411Phe) c.*75A>T (n.*75A>T) c.1238A>T (p.Tyr413Phe) c.1214A>T (p.Tyr405Phe) c.1280A>T (p.Tyr427Phe) c.797A>T (p.Tyr266Phe) c.821A>T (p.Tyr274Phe) | |
5 | g.162153182T>A | CA362183537 | GABRG2 | c.1243T>A c.1338T>A (p.Tyr446Ter) c.1301T>A n.496T>A c.933T>A (p.Tyr311Ter) c.957T>A (p.Tyr319Ter) c.*3839T>A (n.*3839T>A) c.1119T>A c.609T>A (p.Tyr203Ter) c.1218T>A (p.Tyr406Ter) c.1242T>A (p.Tyr414Ter) c.1905T>A (n.1905T>A) c.*1423T>A (n.*1423T>A) c.*442T>A (n.*442T>A) c.1176T>A (p.Tyr392Ter) c.1152T>A (p.Tyr384Ter) n.516T>A n.6189T>A c.680T>A c.1155T>A (p.Tyr385Ter) c.1311T>A (p.Tyr437Ter) c.1362T>A (p.Tyr454Ter) c.*820T>A (n.*820T>A) c.1339T>A (n.1339T>A) c.1233T>A (p.Tyr411Ter) c.*76T>A (n.*76T>A) c.1239T>A (p.Tyr413Ter) c.1215T>A (p.Tyr405Ter) c.1281T>A (p.Tyr427Ter) c.798T>A (p.Tyr266Ter) c.822T>A (p.Tyr274Ter) | |
5 | g.162153182T>C | CA447691765 | GABRG2 | c.1243T>C c.1338T>C (p.Tyr446=) c.1301T>C n.496T>C c.933T>C (p.Tyr311=) c.957T>C (p.Tyr319=) c.*3839T>C (n.*3839T>C) c.1119T>C c.609T>C (p.Tyr203=) c.1218T>C (p.Tyr406=) c.1242T>C (p.Tyr414=) c.1905T>C (n.1905T>C) c.*1423T>C (n.*1423T>C) c.*442T>C (n.*442T>C) c.1176T>C (p.Tyr392=) c.1152T>C (p.Tyr384=) n.516T>C n.6189T>C c.680T>C c.1155T>C (p.Tyr385=) c.1311T>C (p.Tyr437=) c.1362T>C (p.Tyr454=) c.*820T>C (n.*820T>C) c.1339T>C (n.1339T>C) c.1233T>C (p.Tyr411=) c.*76T>C (n.*76T>C) c.1239T>C (p.Tyr413=) c.1215T>C (p.Tyr405=) c.1281T>C (p.Tyr427=) c.798T>C (p.Tyr266=) c.822T>C (p.Tyr274=) | |
5 | g.162153182T>G | CA362183538 | GABRG2 | c.1243T>G c.1338T>G (p.Tyr446Ter) c.1301T>G n.496T>G c.933T>G (p.Tyr311Ter) c.957T>G (p.Tyr319Ter) c.*3839T>G (n.*3839T>G) c.1119T>G c.609T>G (p.Tyr203Ter) c.1218T>G (p.Tyr406Ter) c.1242T>G (p.Tyr414Ter) c.1905T>G (n.1905T>G) c.*1423T>G (n.*1423T>G) c.*442T>G (n.*442T>G) c.1176T>G (p.Tyr392Ter) c.1152T>G (p.Tyr384Ter) n.516T>G n.6189T>G c.680T>G c.1155T>G (p.Tyr385Ter) c.1311T>G (p.Tyr437Ter) c.1362T>G (p.Tyr454Ter) c.*820T>G (n.*820T>G) c.1339T>G (n.1339T>G) c.1233T>G (p.Tyr411Ter) c.*76T>G (n.*76T>G) c.1239T>G (p.Tyr413Ter) c.1215T>G (p.Tyr405Ter) c.1281T>G (p.Tyr427Ter) c.798T>G (p.Tyr266Ter) c.822T>G (p.Tyr274Ter) | |
5 | g.162153183G>A | CA362183539 | GABRG2 | c.1244G>A c.1339G>A (p.Glu447Lys) c.1302G>A n.497G>A c.934G>A (p.Glu312Lys) c.958G>A (p.Glu320Lys) c.*3840G>A (n.*3840G>A) c.1120G>A c.610G>A (p.Glu204Lys) c.1219G>A (p.Glu407Lys) c.1243G>A (p.Glu415Lys) c.1906G>A (n.1906G>A) c.*1424G>A (n.*1424G>A) c.*443G>A (n.*443G>A) c.1177G>A (p.Glu393Lys) c.1153G>A (p.Glu385Lys) n.517G>A n.6190G>A c.681G>A c.1156G>A (p.Glu386Lys) c.1312G>A (p.Glu438Lys) c.1363G>A (p.Glu455Lys) c.*821G>A (n.*821G>A) c.1340G>A (n.1340G>A) c.1234G>A (p.Glu412Lys) c.*77G>A (n.*77G>A) c.1240G>A (p.Glu414Lys) c.1216G>A (p.Glu406Lys) c.1282G>A (p.Glu428Lys) c.799G>A (p.Glu267Lys) c.823G>A (p.Glu275Lys) | ClinVar dbSNP |
5 | g.162153183G>C | CA362183540 | GABRG2 | c.1244G>C c.1339G>C (p.Glu447Gln) c.1302G>C n.497G>C c.934G>C (p.Glu312Gln) c.958G>C (p.Glu320Gln) c.*3840G>C (n.*3840G>C) c.1120G>C c.610G>C (p.Glu204Gln) c.1219G>C (p.Glu407Gln) c.1243G>C (p.Glu415Gln) c.1906G>C (n.1906G>C) c.*1424G>C (n.*1424G>C) c.*443G>C (n.*443G>C) c.1177G>C (p.Glu393Gln) c.1153G>C (p.Glu385Gln) n.517G>C n.6190G>C c.681G>C c.1156G>C (p.Glu386Gln) c.1312G>C (p.Glu438Gln) c.1363G>C (p.Glu455Gln) c.*821G>C (n.*821G>C) c.1340G>C (n.1340G>C) c.1234G>C (p.Glu412Gln) c.*77G>C (n.*77G>C) c.1240G>C (p.Glu414Gln) c.1216G>C (p.Glu406Gln) c.1282G>C (p.Glu428Gln) c.799G>C (p.Glu267Gln) c.823G>C (p.Glu275Gln) | COSMIC |
5 | g.162153183G>T | CA362183541 | GABRG2 | c.1244G>T c.1339G>T (p.Glu447Ter) c.1302G>T n.497G>T c.934G>T (p.Glu312Ter) c.958G>T (p.Glu320Ter) c.*3840G>T (n.*3840G>T) c.1120G>T c.610G>T (p.Glu204Ter) c.1219G>T (p.Glu407Ter) c.1243G>T (p.Glu415Ter) c.1906G>T (n.1906G>T) c.*1424G>T (n.*1424G>T) c.*443G>T (n.*443G>T) c.1177G>T (p.Glu393Ter) c.1153G>T (p.Glu385Ter) n.517G>T n.6190G>T c.681G>T c.1156G>T (p.Glu386Ter) c.1312G>T (p.Glu438Ter) c.1363G>T (p.Glu455Ter) c.*821G>T (n.*821G>T) c.1340G>T (n.1340G>T) c.1234G>T (p.Glu412Ter) c.*77G>T (n.*77G>T) c.1240G>T (p.Glu414Ter) c.1216G>T (p.Glu406Ter) c.1282G>T (p.Glu428Ter) c.799G>T (p.Glu267Ter) c.823G>T (p.Glu275Ter) | |
5 | g.162153184A>C | CA362183542 | GABRG2 | c.1245A>C c.1340A>C (p.Glu447Ala) c.1303A>C n.498A>C c.935A>C (p.Glu312Ala) c.959A>C (p.Glu320Ala) c.*3841A>C (n.*3841A>C) c.1121A>C c.611A>C (p.Glu204Ala) c.1220A>C (p.Glu407Ala) c.1244A>C (p.Glu415Ala) c.1907A>C (n.1907A>C) c.*1425A>C (n.*1425A>C) c.*444A>C (n.*444A>C) c.1178A>C (p.Glu393Ala) c.1154A>C (p.Glu385Ala) n.518A>C n.6191A>C c.682A>C c.1157A>C (p.Glu386Ala) c.1313A>C (p.Glu438Ala) c.1364A>C (p.Glu455Ala) c.*822A>C (n.*822A>C) c.1341A>C (n.1341A>C) c.1235A>C (p.Glu412Ala) c.*78A>C (n.*78A>C) c.1241A>C (p.Glu414Ala) c.1217A>C (p.Glu406Ala) c.1283A>C (p.Glu428Ala) c.800A>C (p.Glu267Ala) c.824A>C (p.Glu275Ala) | |
5 | g.162153184A>G | CA362183543 | GABRG2 | c.1245A>G c.1340A>G (p.Glu447Gly) c.1303A>G n.498A>G c.935A>G (p.Glu312Gly) c.959A>G (p.Glu320Gly) c.*3841A>G (n.*3841A>G) c.1121A>G c.611A>G (p.Glu204Gly) c.1220A>G (p.Glu407Gly) c.1244A>G (p.Glu415Gly) c.1907A>G (n.1907A>G) c.*1425A>G (n.*1425A>G) c.*444A>G (n.*444A>G) c.1178A>G (p.Glu393Gly) c.1154A>G (p.Glu385Gly) n.518A>G n.6191A>G c.682A>G c.1157A>G (p.Glu386Gly) c.1313A>G (p.Glu438Gly) c.1364A>G (p.Glu455Gly) c.*822A>G (n.*822A>G) c.1341A>G (n.1341A>G) c.1235A>G (p.Glu412Gly) c.*78A>G (n.*78A>G) c.1241A>G (p.Glu414Gly) c.1217A>G (p.Glu406Gly) c.1283A>G (p.Glu428Gly) c.800A>G (p.Glu267Gly) c.824A>G (p.Glu275Gly) | |
5 | g.162153184A>T | CA362183544 | GABRG2 | c.1245A>T c.1340A>T (p.Glu447Val) c.1303A>T n.498A>T c.935A>T (p.Glu312Val) c.959A>T (p.Glu320Val) c.*3841A>T (n.*3841A>T) c.1121A>T c.611A>T (p.Glu204Val) c.1220A>T (p.Glu407Val) c.1244A>T (p.Glu415Val) c.1907A>T (n.1907A>T) c.*1425A>T (n.*1425A>T) c.*444A>T (n.*444A>T) c.1178A>T (p.Glu393Val) c.1154A>T (p.Glu385Val) n.518A>T n.6191A>T c.682A>T c.1157A>T (p.Glu386Val) c.1313A>T (p.Glu438Val) c.1364A>T (p.Glu455Val) c.*822A>T (n.*822A>T) c.1341A>T (n.1341A>T) c.1235A>T (p.Glu412Val) c.*78A>T (n.*78A>T) c.1241A>T (p.Glu414Val) c.1217A>T (p.Glu406Val) c.1283A>T (p.Glu428Val) c.800A>T (p.Glu267Val) c.824A>T (p.Glu275Val) | |
5 | g.162153185G>A | CA447691767 | GABRG2 | c.1246G>A c.1341G>A (p.Glu447=) c.1304G>A n.499G>A c.936G>A (p.Glu312=) c.960G>A (p.Glu320=) c.*3842G>A (n.*3842G>A) c.1122G>A c.612G>A (p.Glu204=) c.1221G>A (p.Glu407=) c.1245G>A (p.Glu415=) c.1908G>A (n.1908G>A) c.*1426G>A (n.*1426G>A) c.*445G>A (n.*445G>A) c.1179G>A (p.Glu393=) c.1155G>A (p.Glu385=) n.519G>A n.6192G>A c.683G>A c.1158G>A (p.Glu386=) c.1314G>A (p.Glu438=) c.1365G>A (p.Glu455=) c.*823G>A (n.*823G>A) c.1342G>A (n.1342G>A) c.1236G>A (p.Glu412=) c.*79G>A (n.*79G>A) c.1242G>A (p.Glu414=) c.1218G>A (p.Glu406=) c.1284G>A (p.Glu428=) c.801G>A (p.Glu267=) c.825G>A (p.Glu275=) | gnomAD v4 |
5 | g.162153185G>C | CA362183545 | GABRG2 | c.1246G>C c.1341G>C (p.Glu447Asp) c.1304G>C n.499G>C c.936G>C (p.Glu312Asp) c.960G>C (p.Glu320Asp) c.*3842G>C (n.*3842G>C) c.1122G>C c.612G>C (p.Glu204Asp) c.1221G>C (p.Glu407Asp) c.1245G>C (p.Glu415Asp) c.1908G>C (n.1908G>C) c.*1426G>C (n.*1426G>C) c.*445G>C (n.*445G>C) c.1179G>C (p.Glu393Asp) c.1155G>C (p.Glu385Asp) n.519G>C n.6192G>C c.683G>C c.1158G>C (p.Glu386Asp) c.1314G>C (p.Glu438Asp) c.1365G>C (p.Glu455Asp) c.*823G>C (n.*823G>C) c.1342G>C (n.1342G>C) c.1236G>C (p.Glu412Asp) c.*79G>C (n.*79G>C) c.1242G>C (p.Glu414Asp) c.1218G>C (p.Glu406Asp) c.1284G>C (p.Glu428Asp) c.801G>C (p.Glu267Asp) c.825G>C (p.Glu275Asp) | |
5 | g.162153185G>T | CA362183546 | GABRG2 | c.1246G>T c.1341G>T (p.Glu447Asp) c.1304G>T n.499G>T c.936G>T (p.Glu312Asp) c.960G>T (p.Glu320Asp) c.*3842G>T (n.*3842G>T) c.1122G>T c.612G>T (p.Glu204Asp) c.1221G>T (p.Glu407Asp) c.1245G>T (p.Glu415Asp) c.1908G>T (n.1908G>T) c.*1426G>T (n.*1426G>T) c.*445G>T (n.*445G>T) c.1179G>T (p.Glu393Asp) c.1155G>T (p.Glu385Asp) n.519G>T n.6192G>T c.683G>T c.1158G>T (p.Glu386Asp) c.1314G>T (p.Glu438Asp) c.1365G>T (p.Glu455Asp) c.*823G>T (n.*823G>T) c.1342G>T (n.1342G>T) c.1236G>T (p.Glu412Asp) c.*79G>T (n.*79G>T) c.1242G>T (p.Glu414Asp) c.1218G>T (p.Glu406Asp) c.1284G>T (p.Glu428Asp) c.801G>T (p.Glu267Asp) c.825G>T (p.Glu275Asp) | |
5 | g.162153186T>A | CA362183549 | GABRG2 | c.1247T>A c.1342T>A (p.Cys448Ser) c.1305T>A n.500T>A c.937T>A (p.Cys313Ser) c.961T>A (p.Cys321Ser) c.*3843T>A (n.*3843T>A) c.1123T>A c.613T>A (p.Cys205Ser) c.1222T>A (p.Cys408Ser) c.1246T>A (p.Cys416Ser) c.1909T>A (n.1909T>A) c.*1427T>A (n.*1427T>A) c.*446T>A (n.*446T>A) c.1180T>A (p.Cys394Ser) c.1156T>A (p.Cys386Ser) n.520T>A n.6193T>A c.684T>A c.1159T>A (p.Cys387Ser) c.1315T>A (p.Cys439Ser) c.1366T>A (p.Cys456Ser) c.*824T>A (n.*824T>A) c.1343T>A (n.1343T>A) c.1237T>A (p.Cys413Ser) c.*80T>A (n.*80T>A) c.1243T>A (p.Cys415Ser) c.1219T>A (p.Cys407Ser) c.1285T>A (p.Cys429Ser) c.802T>A (p.Cys268Ser) c.826T>A (p.Cys276Ser) | |
5 | g.162153186T>C | CA362183548 | GABRG2 | c.1247T>C c.1342T>C (p.Cys448Arg) c.1305T>C n.500T>C c.937T>C (p.Cys313Arg) c.961T>C (p.Cys321Arg) c.*3843T>C (n.*3843T>C) c.1123T>C c.613T>C (p.Cys205Arg) c.1222T>C (p.Cys408Arg) c.1246T>C (p.Cys416Arg) c.1909T>C (n.1909T>C) c.*1427T>C (n.*1427T>C) c.*446T>C (n.*446T>C) c.1180T>C (p.Cys394Arg) c.1156T>C (p.Cys386Arg) n.520T>C n.6193T>C c.684T>C c.1159T>C (p.Cys387Arg) c.1315T>C (p.Cys439Arg) c.1366T>C (p.Cys456Arg) c.*824T>C (n.*824T>C) c.1343T>C (n.1343T>C) c.1237T>C (p.Cys413Arg) c.*80T>C (n.*80T>C) c.1243T>C (p.Cys415Arg) c.1219T>C (p.Cys407Arg) c.1285T>C (p.Cys429Arg) c.802T>C (p.Cys268Arg) c.826T>C (p.Cys276Arg) | |
5 | g.162153186T>G | CA362183547 | GABRG2 | c.1247T>G c.1342T>G (p.Cys448Gly) c.1305T>G n.500T>G c.937T>G (p.Cys313Gly) c.961T>G (p.Cys321Gly) c.*3843T>G (n.*3843T>G) c.1123T>G c.613T>G (p.Cys205Gly) c.1222T>G (p.Cys408Gly) c.1246T>G (p.Cys416Gly) c.1909T>G (n.1909T>G) c.*1427T>G (n.*1427T>G) c.*446T>G (n.*446T>G) c.1180T>G (p.Cys394Gly) c.1156T>G (p.Cys386Gly) n.520T>G n.6193T>G c.684T>G c.1159T>G (p.Cys387Gly) c.1315T>G (p.Cys439Gly) c.1366T>G (p.Cys456Gly) c.*824T>G (n.*824T>G) c.1343T>G (n.1343T>G) c.1237T>G (p.Cys413Gly) c.*80T>G (n.*80T>G) c.1243T>G (p.Cys415Gly) c.1219T>G (p.Cys407Gly) c.1285T>G (p.Cys429Gly) c.802T>G (p.Cys268Gly) c.826T>G (p.Cys276Gly) | |
5 | g.162153187G>A | CA362183550 | GABRG2 | c.1248G>A c.1343G>A (p.Cys448Tyr) c.1306G>A n.501G>A c.938G>A (p.Cys313Tyr) c.962G>A (p.Cys321Tyr) c.*3844G>A (n.*3844G>A) c.1124G>A c.614G>A (p.Cys205Tyr) c.1223G>A (p.Cys408Tyr) c.1247G>A (p.Cys416Tyr) c.1910G>A (n.1910G>A) c.*1428G>A (n.*1428G>A) c.*447G>A (n.*447G>A) c.1181G>A (p.Cys394Tyr) c.1157G>A (p.Cys386Tyr) n.521G>A n.6194G>A c.685G>A c.1160G>A (p.Cys387Tyr) c.1316G>A (p.Cys439Tyr) c.1367G>A (p.Cys456Tyr) c.*825G>A (n.*825G>A) c.1344G>A (n.1344G>A) c.1238G>A (p.Cys413Tyr) c.*81G>A (n.*81G>A) c.1244G>A (p.Cys415Tyr) c.1220G>A (p.Cys407Tyr) c.1286G>A (p.Cys429Tyr) c.803G>A (p.Cys268Tyr) c.827G>A (p.Cys276Tyr) | |
5 | g.162153187G>C | CA362183551 | GABRG2 | c.1248G>C c.1343G>C (p.Cys448Ser) c.1306G>C n.501G>C c.938G>C (p.Cys313Ser) c.962G>C (p.Cys321Ser) c.*3844G>C (n.*3844G>C) c.1124G>C c.614G>C (p.Cys205Ser) c.1223G>C (p.Cys408Ser) c.1247G>C (p.Cys416Ser) c.1910G>C (n.1910G>C) c.*1428G>C (n.*1428G>C) c.*447G>C (n.*447G>C) c.1181G>C (p.Cys394Ser) c.1157G>C (p.Cys386Ser) n.521G>C n.6194G>C c.685G>C c.1160G>C (p.Cys387Ser) c.1316G>C (p.Cys439Ser) c.1367G>C (p.Cys456Ser) c.*825G>C (n.*825G>C) c.1344G>C (n.1344G>C) c.1238G>C (p.Cys413Ser) c.*81G>C (n.*81G>C) c.1244G>C (p.Cys415Ser) c.1220G>C (p.Cys407Ser) c.1286G>C (p.Cys429Ser) c.803G>C (p.Cys268Ser) c.827G>C (p.Cys276Ser) | |
5 | g.162153187G>T | CA362183552 | GABRG2 | c.1248G>T c.1343G>T (p.Cys448Phe) c.1306G>T n.501G>T c.938G>T (p.Cys313Phe) c.962G>T (p.Cys321Phe) c.*3844G>T (n.*3844G>T) c.1124G>T c.614G>T (p.Cys205Phe) c.1223G>T (p.Cys408Phe) c.1247G>T (p.Cys416Phe) c.1910G>T (n.1910G>T) c.*1428G>T (n.*1428G>T) c.*447G>T (n.*447G>T) c.1181G>T (p.Cys394Phe) c.1157G>T (p.Cys386Phe) n.521G>T n.6194G>T c.685G>T c.1160G>T (p.Cys387Phe) c.1316G>T (p.Cys439Phe) c.1367G>T (p.Cys456Phe) c.*825G>T (n.*825G>T) c.1344G>T (n.1344G>T) c.1238G>T (p.Cys413Phe) c.*81G>T (n.*81G>T) c.1244G>T (p.Cys415Phe) c.1220G>T (p.Cys407Phe) c.1286G>T (p.Cys429Phe) c.803G>T (p.Cys268Phe) c.827G>T (p.Cys276Phe) | COSMIC |
5 | g.162153188T>A | CA362183553 | GABRG2 | c.1249T>A c.1344T>A (p.Cys448Ter) c.1307T>A n.502T>A c.939T>A (p.Cys313Ter) c.963T>A (p.Cys321Ter) c.*3845T>A (n.*3845T>A) c.1125T>A c.615T>A (p.Cys205Ter) c.1224T>A (p.Cys408Ter) c.1248T>A (p.Cys416Ter) c.1911T>A (n.1911T>A) c.*1429T>A (n.*1429T>A) c.*448T>A (n.*448T>A) c.1182T>A (p.Cys394Ter) c.1158T>A (p.Cys386Ter) n.522T>A n.6195T>A c.686T>A c.1161T>A (p.Cys387Ter) c.1317T>A (p.Cys439Ter) c.1368T>A (p.Cys456Ter) c.*826T>A (n.*826T>A) c.1345T>A (n.1345T>A) c.1239T>A (p.Cys413Ter) c.*82T>A (n.*82T>A) c.1245T>A (p.Cys415Ter) c.1221T>A (p.Cys407Ter) c.1287T>A (p.Cys429Ter) c.804T>A (p.Cys268Ter) c.828T>A (p.Cys276Ter) | |
5 | g.162153188T>C | CA447691770 | GABRG2 | c.1249T>C c.1344T>C (p.Cys448=) c.1307T>C n.502T>C c.939T>C (p.Cys313=) c.963T>C (p.Cys321=) c.*3845T>C (n.*3845T>C) c.1125T>C c.615T>C (p.Cys205=) c.1224T>C (p.Cys408=) c.1248T>C (p.Cys416=) c.1911T>C (n.1911T>C) c.*1429T>C (n.*1429T>C) c.*448T>C (n.*448T>C) c.1182T>C (p.Cys394=) c.1158T>C (p.Cys386=) n.522T>C n.6195T>C c.686T>C c.1161T>C (p.Cys387=) c.1317T>C (p.Cys439=) c.1368T>C (p.Cys456=) c.*826T>C (n.*826T>C) c.1345T>C (n.1345T>C) c.1239T>C (p.Cys413=) c.*82T>C (n.*82T>C) c.1245T>C (p.Cys415=) c.1221T>C (p.Cys407=) c.1287T>C (p.Cys429=) c.804T>C (p.Cys268=) c.828T>C (p.Cys276=) | gnomAD v4 |
5 | g.162153188T>G | CA362183554 | GABRG2 | c.1249T>G c.1344T>G (p.Cys448Trp) c.1307T>G n.502T>G c.939T>G (p.Cys313Trp) c.963T>G (p.Cys321Trp) c.*3845T>G (n.*3845T>G) c.1125T>G c.615T>G (p.Cys205Trp) c.1224T>G (p.Cys408Trp) c.1248T>G (p.Cys416Trp) c.1911T>G (n.1911T>G) c.*1429T>G (n.*1429T>G) c.*448T>G (n.*448T>G) c.1182T>G (p.Cys394Trp) c.1158T>G (p.Cys386Trp) n.522T>G n.6195T>G c.686T>G c.1161T>G (p.Cys387Trp) c.1317T>G (p.Cys439Trp) c.1368T>G (p.Cys456Trp) c.*826T>G (n.*826T>G) c.1345T>G (n.1345T>G) c.1239T>G (p.Cys413Trp) c.*82T>G (n.*82T>G) c.1245T>G (p.Cys415Trp) c.1221T>G (p.Cys407Trp) c.1287T>G (p.Cys429Trp) c.804T>G (p.Cys268Trp) c.828T>G (p.Cys276Trp) | |
5 | g.162153189C>A | CA362183555 | GABRG2 | c.1250C>A c.1345C>A (p.Leu449Met) c.1308C>A n.503C>A c.940C>A (p.Leu314Met) c.964C>A (p.Leu322Met) c.*3846C>A (n.*3846C>A) c.1126C>A c.616C>A (p.Leu206Met) c.1225C>A (p.Leu409Met) c.1249C>A (p.Leu417Met) c.1912C>A (n.1912C>A) c.*1430C>A (n.*1430C>A) c.*449C>A (n.*449C>A) c.1183C>A (p.Leu395Met) c.1159C>A (p.Leu387Met) n.523C>A n.6196C>A c.687C>A c.1162C>A (p.Leu388Met) c.1318C>A (p.Leu440Met) c.1369C>A (p.Leu457Met) c.*827C>A (n.*827C>A) c.1346C>A (n.1346C>A) c.1240C>A (p.Leu414Met) c.*83C>A (n.*83C>A) c.1246C>A (p.Leu416Met) c.1222C>A (p.Leu408Met) c.1288C>A (p.Leu430Met) c.805C>A (p.Leu269Met) c.829C>A (p.Leu277Met) | |
5 | g.162153189C>G | CA362183556 | GABRG2 | c.1250C>G c.1345C>G (p.Leu449Val) c.1308C>G n.503C>G c.940C>G (p.Leu314Val) c.964C>G (p.Leu322Val) c.*3846C>G (n.*3846C>G) c.1126C>G c.616C>G (p.Leu206Val) c.1225C>G (p.Leu409Val) c.1249C>G (p.Leu417Val) c.1912C>G (n.1912C>G) c.*1430C>G (n.*1430C>G) c.*449C>G (n.*449C>G) c.1183C>G (p.Leu395Val) c.1159C>G (p.Leu387Val) n.523C>G n.6196C>G c.687C>G c.1162C>G (p.Leu388Val) c.1318C>G (p.Leu440Val) c.1369C>G (p.Leu457Val) c.*827C>G (n.*827C>G) c.1346C>G (n.1346C>G) c.1240C>G (p.Leu414Val) c.*83C>G (n.*83C>G) c.1246C>G (p.Leu416Val) c.1222C>G (p.Leu408Val) c.1288C>G (p.Leu430Val) c.805C>G (p.Leu269Val) c.829C>G (p.Leu277Val) | gnomAD v4 |
5 | g.162153189C>T | CA447691773 | GABRG2 | c.1250C>T c.1345C>T (p.Leu449=) c.1308C>T n.503C>T c.940C>T (p.Leu314=) c.964C>T (p.Leu322=) c.*3846C>T (n.*3846C>T) c.1126C>T c.616C>T (p.Leu206=) c.1225C>T (p.Leu409=) c.1249C>T (p.Leu417=) c.1912C>T (n.1912C>T) c.*1430C>T (n.*1430C>T) c.*449C>T (n.*449C>T) c.1183C>T (p.Leu395=) c.1159C>T (p.Leu387=) n.523C>T n.6196C>T c.687C>T c.1162C>T (p.Leu388=) c.1318C>T (p.Leu440=) c.1369C>T (p.Leu457=) c.*827C>T (n.*827C>T) c.1346C>T (n.1346C>T) c.1240C>T (p.Leu414=) c.*83C>T (n.*83C>T) c.1246C>T (p.Leu416=) c.1222C>T (p.Leu408=) c.1288C>T (p.Leu430=) c.805C>T (p.Leu269=) c.829C>T (p.Leu277=) | gnomAD v4 |
5 | g.162153190T>A | CA362183557 | GABRG2 | c.1251T>A c.1346T>A (p.Leu449Gln) c.1309T>A n.504T>A c.941T>A (p.Leu314Gln) c.965T>A (p.Leu322Gln) c.*3847T>A (n.*3847T>A) c.1127T>A c.617T>A (p.Leu206Gln) c.1226T>A (p.Leu409Gln) c.1250T>A (p.Leu417Gln) c.1913T>A (n.1913T>A) c.*1431T>A (n.*1431T>A) c.*450T>A (n.*450T>A) c.1184T>A (p.Leu395Gln) c.1160T>A (p.Leu387Gln) n.524T>A n.6197T>A c.688T>A c.1163T>A (p.Leu388Gln) c.1319T>A (p.Leu440Gln) c.1370T>A (p.Leu457Gln) c.*828T>A (n.*828T>A) c.1347T>A (n.1347T>A) c.1241T>A (p.Leu414Gln) c.*84T>A (n.*84T>A) c.1247T>A (p.Leu416Gln) c.1223T>A (p.Leu408Gln) c.1289T>A (p.Leu430Gln) c.806T>A (p.Leu269Gln) c.830T>A (p.Leu277Gln) | |
5 | g.162153190T>C | CA362183558 | GABRG2 | c.1251T>C c.1346T>C (p.Leu449Pro) c.1309T>C n.504T>C c.941T>C (p.Leu314Pro) c.965T>C (p.Leu322Pro) c.*3847T>C (n.*3847T>C) c.1127T>C c.617T>C (p.Leu206Pro) c.1226T>C (p.Leu409Pro) c.1250T>C (p.Leu417Pro) c.1913T>C (n.1913T>C) c.*1431T>C (n.*1431T>C) c.*450T>C (n.*450T>C) c.1184T>C (p.Leu395Pro) c.1160T>C (p.Leu387Pro) n.524T>C n.6197T>C c.688T>C c.1163T>C (p.Leu388Pro) c.1319T>C (p.Leu440Pro) c.1370T>C (p.Leu457Pro) c.*828T>C (n.*828T>C) c.1347T>C (n.1347T>C) c.1241T>C (p.Leu414Pro) c.*84T>C (n.*84T>C) c.1247T>C (p.Leu416Pro) c.1223T>C (p.Leu408Pro) c.1289T>C (p.Leu430Pro) c.806T>C (p.Leu269Pro) c.830T>C (p.Leu277Pro) | |
5 | g.162153190T>G | CA362183559 | GABRG2 | c.1251T>G c.1346T>G (p.Leu449Arg) c.1309T>G n.504T>G c.941T>G (p.Leu314Arg) c.965T>G (p.Leu322Arg) c.*3847T>G (n.*3847T>G) c.1127T>G c.617T>G (p.Leu206Arg) c.1226T>G (p.Leu409Arg) c.1250T>G (p.Leu417Arg) c.1913T>G (n.1913T>G) c.*1431T>G (n.*1431T>G) c.*450T>G (n.*450T>G) c.1184T>G (p.Leu395Arg) c.1160T>G (p.Leu387Arg) n.524T>G n.6197T>G c.688T>G c.1163T>G (p.Leu388Arg) c.1319T>G (p.Leu440Arg) c.1370T>G (p.Leu457Arg) c.*828T>G (n.*828T>G) c.1347T>G (n.1347T>G) c.1241T>G (p.Leu414Arg) c.*84T>G (n.*84T>G) c.1247T>G (p.Leu416Arg) c.1223T>G (p.Leu408Arg) c.1289T>G (p.Leu430Arg) c.806T>G (p.Leu269Arg) c.830T>G (p.Leu277Arg) | |
5 | g.162153191G>A | CA447691774 | GABRG2 | c.1252G>A c.1347G>A (p.Leu449=) c.1310G>A n.505G>A c.942G>A (p.Leu314=) c.966G>A (p.Leu322=) c.*3848G>A (n.*3848G>A) c.1128G>A c.618G>A (p.Leu206=) c.1227G>A (p.Leu409=) c.1251G>A (p.Leu417=) c.1914G>A (n.1914G>A) c.*1432G>A (n.*1432G>A) c.*451G>A (n.*451G>A) c.1185G>A (p.Leu395=) c.1161G>A (p.Leu387=) n.525G>A n.6198G>A c.689G>A c.1164G>A (p.Leu388=) c.1320G>A (p.Leu440=) c.1371G>A (p.Leu457=) c.*829G>A (n.*829G>A) c.1348G>A (n.1348G>A) c.1242G>A (p.Leu414=) c.*85G>A (n.*85G>A) c.1248G>A (p.Leu416=) c.1224G>A (p.Leu408=) c.1290G>A (p.Leu430=) c.807G>A (p.Leu269=) c.831G>A (p.Leu277=) | gnomAD v4 |
5 | g.162153191G>C | CA447691776 | GABRG2 | c.1252G>C c.1347G>C (p.Leu449=) c.1310G>C n.505G>C c.942G>C (p.Leu314=) c.966G>C (p.Leu322=) c.*3848G>C (n.*3848G>C) c.1128G>C c.618G>C (p.Leu206=) c.1227G>C (p.Leu409=) c.1251G>C (p.Leu417=) c.1914G>C (n.1914G>C) c.*1432G>C (n.*1432G>C) c.*451G>C (n.*451G>C) c.1185G>C (p.Leu395=) c.1161G>C (p.Leu387=) n.525G>C n.6198G>C c.689G>C c.1164G>C (p.Leu388=) c.1320G>C (p.Leu440=) c.1371G>C (p.Leu457=) c.*829G>C (n.*829G>C) c.1348G>C (n.1348G>C) c.1242G>C (p.Leu414=) c.*85G>C (n.*85G>C) c.1248G>C (p.Leu416=) c.1224G>C (p.Leu408=) c.1290G>C (p.Leu430=) c.807G>C (p.Leu269=) c.831G>C (p.Leu277=) | gnomAD v4 |
5 | g.162153191G>T | CA447691779 | GABRG2 | c.1252G>T c.1347G>T (p.Leu449=) c.1310G>T n.505G>T c.942G>T (p.Leu314=) c.966G>T (p.Leu322=) c.*3848G>T (n.*3848G>T) c.1128G>T c.618G>T (p.Leu206=) c.1227G>T (p.Leu409=) c.1251G>T (p.Leu417=) c.1914G>T (n.1914G>T) c.*1432G>T (n.*1432G>T) c.*451G>T (n.*451G>T) c.1185G>T (p.Leu395=) c.1161G>T (p.Leu387=) n.525G>T n.6198G>T c.689G>T c.1164G>T (p.Leu388=) c.1320G>T (p.Leu440=) c.1371G>T (p.Leu457=) c.*829G>T (n.*829G>T) c.1348G>T (n.1348G>T) c.1242G>T (p.Leu414=) c.*85G>T (n.*85G>T) c.1248G>T (p.Leu416=) c.1224G>T (p.Leu408=) c.1290G>T (p.Leu430=) c.807G>T (p.Leu269=) c.831G>T (p.Leu277=) | |
5 | g.162153192G>A | CA362183560 | GABRG2 | c.1253G>A c.1348G>A (p.Asp450Asn) c.1311G>A n.506G>A c.943G>A (p.Asp315Asn) c.967G>A (p.Asp323Asn) c.*3849G>A (n.*3849G>A) c.1129G>A c.619G>A (p.Asp207Asn) c.1228G>A (p.Asp410Asn) c.1252G>A (p.Asp418Asn) c.1915G>A (n.1915G>A) c.*1433G>A (n.*1433G>A) c.*452G>A (n.*452G>A) c.1186G>A (p.Asp396Asn) c.1162G>A (p.Asp388Asn) n.526G>A n.6199G>A c.690G>A c.1165G>A (p.Asp389Asn) c.1321G>A (p.Asp441Asn) c.1372G>A (p.Asp458Asn) c.*830G>A (n.*830G>A) c.1349G>A (n.1349G>A) c.1243G>A (p.Asp415Asn) c.*86G>A (n.*86G>A) c.1249G>A (p.Asp417Asn) c.1225G>A (p.Asp409Asn) c.1291G>A (p.Asp431Asn) c.808G>A (p.Asp270Asn) c.832G>A (p.Asp278Asn) | gnomAD v4 |
5 | g.162153192G>C | CA362183561 | GABRG2 | c.1253G>C c.1348G>C (p.Asp450His) c.1311G>C n.506G>C c.943G>C (p.Asp315His) c.967G>C (p.Asp323His) c.*3849G>C (n.*3849G>C) c.1129G>C c.619G>C (p.Asp207His) c.1228G>C (p.Asp410His) c.1252G>C (p.Asp418His) c.1915G>C (n.1915G>C) c.*1433G>C (n.*1433G>C) c.*452G>C (n.*452G>C) c.1186G>C (p.Asp396His) c.1162G>C (p.Asp388His) n.526G>C n.6199G>C c.690G>C c.1165G>C (p.Asp389His) c.1321G>C (p.Asp441His) c.1372G>C (p.Asp458His) c.*830G>C (n.*830G>C) c.1349G>C (n.1349G>C) c.1243G>C (p.Asp415His) c.*86G>C (n.*86G>C) c.1249G>C (p.Asp417His) c.1225G>C (p.Asp409His) c.1291G>C (p.Asp431His) c.808G>C (p.Asp270His) c.832G>C (p.Asp278His) | |
5 | g.162153192G>T | CA362183562 | GABRG2 | c.1253G>T c.1348G>T (p.Asp450Tyr) c.1311G>T n.506G>T c.943G>T (p.Asp315Tyr) c.967G>T (p.Asp323Tyr) c.*3849G>T (n.*3849G>T) c.1129G>T c.619G>T (p.Asp207Tyr) c.1228G>T (p.Asp410Tyr) c.1252G>T (p.Asp418Tyr) c.1915G>T (n.1915G>T) c.*1433G>T (n.*1433G>T) c.*452G>T (n.*452G>T) c.1186G>T (p.Asp396Tyr) c.1162G>T (p.Asp388Tyr) n.526G>T n.6199G>T c.690G>T c.1165G>T (p.Asp389Tyr) c.1321G>T (p.Asp441Tyr) c.1372G>T (p.Asp458Tyr) c.*830G>T (n.*830G>T) c.1349G>T (n.1349G>T) c.1243G>T (p.Asp415Tyr) c.*86G>T (n.*86G>T) c.1249G>T (p.Asp417Tyr) c.1225G>T (p.Asp409Tyr) c.1291G>T (p.Asp431Tyr) c.808G>T (p.Asp270Tyr) c.832G>T (p.Asp278Tyr) | |
5 | g.162153193A>C | CA362183565 | GABRG2 | c.1254A>C c.1349A>C (p.Asp450Ala) c.1312A>C n.507A>C c.944A>C (p.Asp315Ala) c.968A>C (p.Asp323Ala) c.*3850A>C (n.*3850A>C) c.1130A>C c.620A>C (p.Asp207Ala) c.1229A>C (p.Asp410Ala) c.1253A>C (p.Asp418Ala) c.1916A>C (n.1916A>C) c.*1434A>C (n.*1434A>C) c.*453A>C (n.*453A>C) c.1187A>C (p.Asp396Ala) c.1163A>C (p.Asp388Ala) n.527A>C n.6200A>C c.691A>C c.1166A>C (p.Asp389Ala) c.1322A>C (p.Asp441Ala) c.1373A>C (p.Asp458Ala) c.*831A>C (n.*831A>C) c.1350A>C (n.1350A>C) c.1244A>C (p.Asp415Ala) c.*87A>C (n.*87A>C) c.1250A>C (p.Asp417Ala) c.1226A>C (p.Asp409Ala) c.1292A>C (p.Asp431Ala) c.809A>C (p.Asp270Ala) c.833A>C (p.Asp278Ala) | |
5 | g.162153193A>G | CA362183564 | GABRG2 | c.1254A>G c.1349A>G (p.Asp450Gly) c.1312A>G n.507A>G c.944A>G (p.Asp315Gly) c.968A>G (p.Asp323Gly) c.*3850A>G (n.*3850A>G) c.1130A>G c.620A>G (p.Asp207Gly) c.1229A>G (p.Asp410Gly) c.1253A>G (p.Asp418Gly) c.1916A>G (n.1916A>G) c.*1434A>G (n.*1434A>G) c.*453A>G (n.*453A>G) c.1187A>G (p.Asp396Gly) c.1163A>G (p.Asp388Gly) n.527A>G n.6200A>G c.691A>G c.1166A>G (p.Asp389Gly) c.1322A>G (p.Asp441Gly) c.1373A>G (p.Asp458Gly) c.*831A>G (n.*831A>G) c.1350A>G (n.1350A>G) c.1244A>G (p.Asp415Gly) c.*87A>G (n.*87A>G) c.1250A>G (p.Asp417Gly) c.1226A>G (p.Asp409Gly) c.1292A>G (p.Asp431Gly) c.809A>G (p.Asp270Gly) c.833A>G (p.Asp278Gly) | |
5 | g.162153193A>T | CA362183563 | GABRG2 | c.1254A>T c.1349A>T (p.Asp450Val) c.1312A>T n.507A>T c.944A>T (p.Asp315Val) c.968A>T (p.Asp323Val) c.*3850A>T (n.*3850A>T) c.1130A>T c.620A>T (p.Asp207Val) c.1229A>T (p.Asp410Val) c.1253A>T (p.Asp418Val) c.1916A>T (n.1916A>T) c.*1434A>T (n.*1434A>T) c.*453A>T (n.*453A>T) c.1187A>T (p.Asp396Val) c.1163A>T (p.Asp388Val) n.527A>T n.6200A>T c.691A>T c.1166A>T (p.Asp389Val) c.1322A>T (p.Asp441Val) c.1373A>T (p.Asp458Val) c.*831A>T (n.*831A>T) c.1350A>T (n.1350A>T) c.1244A>T (p.Asp415Val) c.*87A>T (n.*87A>T) c.1250A>T (p.Asp417Val) c.1226A>T (p.Asp409Val) c.1292A>T (p.Asp431Val) c.809A>T (p.Asp270Val) c.833A>T (p.Asp278Val) | |
5 | g.162153194C>A | CA362183566 | GABRG2 | c.1255C>A c.1350C>A (p.Asp450Glu) c.1313C>A n.508C>A c.945C>A (p.Asp315Glu) c.969C>A (p.Asp323Glu) c.*3851C>A (n.*3851C>A) c.1131C>A c.621C>A (p.Asp207Glu) c.1230C>A (p.Asp410Glu) c.1254C>A (p.Asp418Glu) c.1917C>A (n.1917C>A) c.*1435C>A (n.*1435C>A) c.*454C>A (n.*454C>A) c.1188C>A (p.Asp396Glu) c.1164C>A (p.Asp388Glu) n.528C>A n.6201C>A c.692C>A c.1167C>A (p.Asp389Glu) c.1323C>A (p.Asp441Glu) c.1374C>A (p.Asp458Glu) c.*832C>A (n.*832C>A) c.1351C>A (n.1351C>A) c.1245C>A (p.Asp415Glu) c.*88C>A (n.*88C>A) c.1251C>A (p.Asp417Glu) c.1227C>A (p.Asp409Glu) c.1293C>A (p.Asp431Glu) c.810C>A (p.Asp270Glu) c.834C>A (p.Asp278Glu) | |
5 | g.162153194C= | CA1596382064 | GABRG2 | c.1255C= c.1350C= (p.Asp450=) c.1313C= n.508C= c.945C= (p.Asp315=) c.969C= (p.Asp323=) c.*3851C= (n.*3851C=) c.1131C= c.621C= (p.Asp207=) c.1230C= (p.Asp410=) c.1254C= (p.Asp418=) c.1917C= (n.1917C=) c.*1435C= (n.*1435C=) c.*454C= (n.*454C=) c.1188C= (p.Asp396=) c.1164C= (p.Asp388=) n.528C= n.6201C= c.692C= c.1167C= (p.Asp389=) c.1323C= (p.Asp441=) c.1374C= (p.Asp458=) c.*832C= (n.*832C=) c.1351C= (n.1351C=) c.1245C= (p.Asp415=) c.*88C= (n.*88C=) c.1251C= (p.Asp417=) c.1227C= (p.Asp409=) c.1293C= (p.Asp431=) c.810C= (p.Asp270=) c.834C= (p.Asp278=) | |
5 | g.162153194C>G | CA362183567 | GABRG2 | c.1255C>G c.1350C>G (p.Asp450Glu) c.1313C>G n.508C>G c.945C>G (p.Asp315Glu) c.969C>G (p.Asp323Glu) c.*3851C>G (n.*3851C>G) c.1131C>G c.621C>G (p.Asp207Glu) c.1230C>G (p.Asp410Glu) c.1254C>G (p.Asp418Glu) c.1917C>G (n.1917C>G) c.*1435C>G (n.*1435C>G) c.*454C>G (n.*454C>G) c.1188C>G (p.Asp396Glu) c.1164C>G (p.Asp388Glu) n.528C>G n.6201C>G c.692C>G c.1167C>G (p.Asp389Glu) c.1323C>G (p.Asp441Glu) c.1374C>G (p.Asp458Glu) c.*832C>G (n.*832C>G) c.1351C>G (n.1351C>G) c.1245C>G (p.Asp415Glu) c.*88C>G (n.*88C>G) c.1251C>G (p.Asp417Glu) c.1227C>G (p.Asp409Glu) c.1293C>G (p.Asp431Glu) c.810C>G (p.Asp270Glu) c.834C>G (p.Asp278Glu) | |
5 | g.162153194C>T | CA3544981 | GABRG2 | c.1255C>T c.1350C>T (p.Asp450=) c.1313C>T n.508C>T c.945C>T (p.Asp315=) c.969C>T (p.Asp323=) c.*3851C>T (n.*3851C>T) c.1131C>T c.621C>T (p.Asp207=) c.1230C>T (p.Asp410=) c.1254C>T (p.Asp418=) c.1917C>T (n.1917C>T) c.*1435C>T (n.*1435C>T) c.*454C>T (n.*454C>T) c.1188C>T (p.Asp396=) c.1164C>T (p.Asp388=) n.528C>T n.6201C>T c.692C>T c.1167C>T (p.Asp389=) c.1323C>T (p.Asp441=) c.1374C>T (p.Asp458=) c.*832C>T (n.*832C>T) c.1351C>T (n.1351C>T) c.1245C>T (p.Asp415=) c.*88C>T (n.*88C>T) c.1251C>T (p.Asp417=) c.1227C>T (p.Asp409=) c.1293C>T (p.Asp431=) c.810C>T (p.Asp270=) c.834C>T (p.Asp278=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
5 | g.162153195G>A | CA3544982 | GABRG2 | c.1256G>A c.1351G>A (p.Gly451Ser) c.1314G>A n.509G>A c.946G>A (p.Gly316Ser) c.970G>A (p.Gly324Ser) c.*3852G>A (n.*3852G>A) c.1132G>A c.622G>A (p.Gly208Ser) c.1231G>A (p.Gly411Ser) c.1255G>A (p.Gly419Ser) c.1918G>A (n.1918G>A) c.*1436G>A (n.*1436G>A) c.*455G>A (n.*455G>A) c.1189G>A (p.Gly397Ser) c.1165G>A (p.Gly389Ser) n.529G>A n.6202G>A c.693G>A c.1168G>A (p.Gly390Ser) c.1324G>A (p.Gly442Ser) c.1375G>A (p.Gly459Ser) c.*833G>A (n.*833G>A) c.1352G>A (n.1352G>A) c.1246G>A (p.Gly416Ser) c.*89G>A (n.*89G>A) c.1252G>A (p.Gly418Ser) c.1228G>A (p.Gly410Ser) c.1294G>A (p.Gly432Ser) c.811G>A (p.Gly271Ser) c.835G>A (p.Gly279Ser) | dbSNP ExAC gnomAD v3 gnomAD v4 |
5 | g.162153195G>C | CA362183569 | GABRG2 | c.1256G>C c.1351G>C (p.Gly451Arg) c.1314G>C n.509G>C c.946G>C (p.Gly316Arg) c.970G>C (p.Gly324Arg) c.*3852G>C (n.*3852G>C) c.1132G>C c.622G>C (p.Gly208Arg) c.1231G>C (p.Gly411Arg) c.1255G>C (p.Gly419Arg) c.1918G>C (n.1918G>C) c.*1436G>C (n.*1436G>C) c.*455G>C (n.*455G>C) c.1189G>C (p.Gly397Arg) c.1165G>C (p.Gly389Arg) n.529G>C n.6202G>C c.693G>C c.1168G>C (p.Gly390Arg) c.1324G>C (p.Gly442Arg) c.1375G>C (p.Gly459Arg) c.*833G>C (n.*833G>C) c.1352G>C (n.1352G>C) c.1246G>C (p.Gly416Arg) c.*89G>C (n.*89G>C) c.1252G>C (p.Gly418Arg) c.1228G>C (p.Gly410Arg) c.1294G>C (p.Gly432Arg) c.811G>C (p.Gly271Arg) c.835G>C (p.Gly279Arg) | |
5 | g.162153195G= | CA1596382069 | GABRG2 | c.1256G= c.1351G= (p.Gly451=) c.1314G= n.509G= c.946G= (p.Gly316=) c.970G= (p.Gly324=) c.*3852G= (n.*3852G=) c.1132G= c.622G= (p.Gly208=) c.1231G= (p.Gly411=) c.1255G= (p.Gly419=) c.1918G= (n.1918G=) c.*1436G= (n.*1436G=) c.*455G= (n.*455G=) c.1189G= (p.Gly397=) c.1165G= (p.Gly389=) n.529G= n.6202G= c.693G= c.1168G= (p.Gly390=) c.1324G= (p.Gly442=) c.1375G= (p.Gly459=) c.*833G= (n.*833G=) c.1352G= (n.1352G=) c.1246G= (p.Gly416=) c.*89G= (n.*89G=) c.1252G= (p.Gly418=) c.1228G= (p.Gly410=) c.1294G= (p.Gly432=) c.811G= (p.Gly271=) c.835G= (p.Gly279=) | |
5 | g.162153195G>T | CA362183568 | GABRG2 | c.1256G>T c.1351G>T (p.Gly451Cys) c.1314G>T n.509G>T c.946G>T (p.Gly316Cys) c.970G>T (p.Gly324Cys) c.*3852G>T (n.*3852G>T) c.1132G>T c.622G>T (p.Gly208Cys) c.1231G>T (p.Gly411Cys) c.1255G>T (p.Gly419Cys) c.1918G>T (n.1918G>T) c.*1436G>T (n.*1436G>T) c.*455G>T (n.*455G>T) c.1189G>T (p.Gly397Cys) c.1165G>T (p.Gly389Cys) n.529G>T n.6202G>T c.693G>T c.1168G>T (p.Gly390Cys) c.1324G>T (p.Gly442Cys) c.1375G>T (p.Gly459Cys) c.*833G>T (n.*833G>T) c.1352G>T (n.1352G>T) c.1246G>T (p.Gly416Cys) c.*89G>T (n.*89G>T) c.1252G>T (p.Gly418Cys) c.1228G>T (p.Gly410Cys) c.1294G>T (p.Gly432Cys) c.811G>T (p.Gly271Cys) c.835G>T (p.Gly279Cys) | COSMIC |
5 | g.162153196G>A | CA3544983 | GABRG2 | c.1257G>A c.1352G>A (p.Gly451Asp) c.1315G>A n.510G>A c.947G>A (p.Gly316Asp) c.971G>A (p.Gly324Asp) c.*3853G>A (n.*3853G>A) c.1133G>A c.623G>A (p.Gly208Asp) c.1232G>A (p.Gly411Asp) c.1256G>A (p.Gly419Asp) c.1919G>A (n.1919G>A) c.*1437G>A (n.*1437G>A) c.*456G>A (n.*456G>A) c.1190G>A (p.Gly397Asp) c.1166G>A (p.Gly389Asp) n.530G>A n.6203G>A c.694G>A c.1169G>A (p.Gly390Asp) c.1325G>A (p.Gly442Asp) c.1376G>A (p.Gly459Asp) c.*834G>A (n.*834G>A) c.1353G>A (n.1353G>A) c.1247G>A (p.Gly416Asp) c.*90G>A (n.*90G>A) c.1253G>A (p.Gly418Asp) c.1229G>A (p.Gly410Asp) c.1295G>A (p.Gly432Asp) c.812G>A (p.Gly271Asp) c.836G>A (p.Gly279Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
5 | g.162153196G>C | CA362183570 | GABRG2 | c.1257G>C c.1352G>C (p.Gly451Ala) c.1315G>C n.510G>C c.947G>C (p.Gly316Ala) c.971G>C (p.Gly324Ala) c.*3853G>C (n.*3853G>C) c.1133G>C c.623G>C (p.Gly208Ala) c.1232G>C (p.Gly411Ala) c.1256G>C (p.Gly419Ala) c.1919G>C (n.1919G>C) c.*1437G>C (n.*1437G>C) c.*456G>C (n.*456G>C) c.1190G>C (p.Gly397Ala) c.1166G>C (p.Gly389Ala) n.530G>C n.6203G>C c.694G>C c.1169G>C (p.Gly390Ala) c.1325G>C (p.Gly442Ala) c.1376G>C (p.Gly459Ala) c.*834G>C (n.*834G>C) c.1353G>C (n.1353G>C) c.1247G>C (p.Gly416Ala) c.*90G>C (n.*90G>C) c.1253G>C (p.Gly418Ala) c.1229G>C (p.Gly410Ala) c.1295G>C (p.Gly432Ala) c.812G>C (p.Gly271Ala) c.836G>C (p.Gly279Ala) | |
5 | g.162153196G= | CA1596382072 | GABRG2 | c.1257G= c.1352G= (p.Gly451=) c.1315G= n.510G= c.947G= (p.Gly316=) c.971G= (p.Gly324=) c.*3853G= (n.*3853G=) c.1133G= c.623G= (p.Gly208=) c.1232G= (p.Gly411=) c.1256G= (p.Gly419=) c.1919G= (n.1919G=) c.*1437G= (n.*1437G=) c.*456G= (n.*456G=) c.1190G= (p.Gly397=) c.1166G= (p.Gly389=) n.530G= n.6203G= c.694G= c.1169G= (p.Gly390=) c.1325G= (p.Gly442=) c.1376G= (p.Gly459=) c.*834G= (n.*834G=) c.1353G= (n.1353G=) c.1247G= (p.Gly416=) c.*90G= (n.*90G=) c.1253G= (p.Gly418=) c.1229G= (p.Gly410=) c.1295G= (p.Gly432=) c.812G= (p.Gly271=) c.836G= (p.Gly279=) | |
5 | g.162153196G>T | CA362183571 | GABRG2 | c.1257G>T c.1352G>T (p.Gly451Val) c.1315G>T n.510G>T c.947G>T (p.Gly316Val) c.971G>T (p.Gly324Val) c.*3853G>T (n.*3853G>T) c.1133G>T c.623G>T (p.Gly208Val) c.1232G>T (p.Gly411Val) c.1256G>T (p.Gly419Val) c.1919G>T (n.1919G>T) c.*1437G>T (n.*1437G>T) c.*456G>T (n.*456G>T) c.1190G>T (p.Gly397Val) c.1166G>T (p.Gly389Val) n.530G>T n.6203G>T c.694G>T c.1169G>T (p.Gly390Val) c.1325G>T (p.Gly442Val) c.1376G>T (p.Gly459Val) c.*834G>T (n.*834G>T) c.1353G>T (n.1353G>T) c.1247G>T (p.Gly416Val) c.*90G>T (n.*90G>T) c.1253G>T (p.Gly418Val) c.1229G>T (p.Gly410Val) c.1295G>T (p.Gly432Val) c.812G>T (p.Gly271Val) c.836G>T (p.Gly279Val) | |
5 | g.162153197C>A | CA447691785 | GABRG2 | c.1258C>A c.1353C>A (p.Gly451=) c.1316C>A n.511C>A c.948C>A (p.Gly316=) c.972C>A (p.Gly324=) c.*3854C>A (n.*3854C>A) c.1134C>A c.624C>A (p.Gly208=) c.1233C>A (p.Gly411=) c.1257C>A (p.Gly419=) c.1920C>A (n.1920C>A) c.*1438C>A (n.*1438C>A) c.*457C>A (n.*457C>A) c.1191C>A (p.Gly397=) c.1167C>A (p.Gly389=) n.531C>A n.6204C>A c.695C>A c.1170C>A (p.Gly390=) c.1326C>A (p.Gly442=) c.1377C>A (p.Gly459=) c.*835C>A (n.*835C>A) c.1354C>A (n.1354C>A) c.1248C>A (p.Gly416=) c.*91C>A (n.*91C>A) c.1254C>A (p.Gly418=) c.1230C>A (p.Gly410=) c.1296C>A (p.Gly432=) c.813C>A (p.Gly271=) c.837C>A (p.Gly279=) | |
5 | g.162153197C= | CA1596382075 | GABRG2 | c.1258C= c.1353C= (p.Gly451=) c.1316C= n.511C= c.948C= (p.Gly316=) c.972C= (p.Gly324=) c.*3854C= (n.*3854C=) c.1134C= c.624C= (p.Gly208=) c.1233C= (p.Gly411=) c.1257C= (p.Gly419=) c.1920C= (n.1920C=) c.*1438C= (n.*1438C=) c.*457C= (n.*457C=) c.1191C= (p.Gly397=) c.1167C= (p.Gly389=) n.531C= n.6204C= c.695C= c.1170C= (p.Gly390=) c.1326C= (p.Gly442=) c.1377C= (p.Gly459=) c.*835C= (n.*835C=) c.1354C= (n.1354C=) c.1248C= (p.Gly416=) c.*91C= (n.*91C=) c.1254C= (p.Gly418=) c.1230C= (p.Gly410=) c.1296C= (p.Gly432=) c.813C= (p.Gly271=) c.837C= (p.Gly279=) | |
5 | g.162153197C>G | CA447691786 | GABRG2 | c.1258C>G c.1353C>G (p.Gly451=) c.1316C>G n.511C>G c.948C>G (p.Gly316=) c.972C>G (p.Gly324=) c.*3854C>G (n.*3854C>G) c.1134C>G c.624C>G (p.Gly208=) c.1233C>G (p.Gly411=) c.1257C>G (p.Gly419=) c.1920C>G (n.1920C>G) c.*1438C>G (n.*1438C>G) c.*457C>G (n.*457C>G) c.1191C>G (p.Gly397=) c.1167C>G (p.Gly389=) n.531C>G n.6204C>G c.695C>G c.1170C>G (p.Gly390=) c.1326C>G (p.Gly442=) c.1377C>G (p.Gly459=) c.*835C>G (n.*835C>G) c.1354C>G (n.1354C>G) c.1248C>G (p.Gly416=) c.*91C>G (n.*91C>G) c.1254C>G (p.Gly418=) c.1230C>G (p.Gly410=) c.1296C>G (p.Gly432=) c.813C>G (p.Gly271=) c.837C>G (p.Gly279=) | |
5 | g.162153197C>T | CA447691787 | GABRG2 | c.1258C>T c.1353C>T (p.Gly451=) c.1316C>T n.511C>T c.948C>T (p.Gly316=) c.972C>T (p.Gly324=) c.*3854C>T (n.*3854C>T) c.1134C>T c.624C>T (p.Gly208=) c.1233C>T (p.Gly411=) c.1257C>T (p.Gly419=) c.1920C>T (n.1920C>T) c.*1438C>T (n.*1438C>T) c.*457C>T (n.*457C>T) c.1191C>T (p.Gly397=) c.1167C>T (p.Gly389=) n.531C>T n.6204C>T c.695C>T c.1170C>T (p.Gly390=) c.1326C>T (p.Gly442=) c.1377C>T (p.Gly459=) c.*835C>T (n.*835C>T) c.1354C>T (n.1354C>T) c.1248C>T (p.Gly416=) c.*91C>T (n.*91C>T) c.1254C>T (p.Gly418=) c.1230C>T (p.Gly410=) c.1296C>T (p.Gly432=) c.813C>T (p.Gly271=) c.837C>T (p.Gly279=) | ClinVar dbSNP |
5 | g.162153198A>C | CA362183572 | GABRG2 | c.1259A>C c.1354A>C (p.Lys452Gln) c.1317A>C n.512A>C c.949A>C (p.Lys317Gln) c.973A>C (p.Lys325Gln) c.*3855A>C (n.*3855A>C) c.1135A>C c.625A>C (p.Lys209Gln) c.1234A>C (p.Lys412Gln) c.1258A>C (p.Lys420Gln) c.1921A>C (n.1921A>C) c.*1439A>C (n.*1439A>C) c.*458A>C (n.*458A>C) c.1192A>C (p.Lys398Gln) c.1168A>C (p.Lys390Gln) n.532A>C n.6205A>C c.696A>C c.1171A>C (p.Lys391Gln) c.1327A>C (p.Lys443Gln) c.1378A>C (p.Lys460Gln) c.*836A>C (n.*836A>C) c.1355A>C (n.1355A>C) c.1249A>C (p.Lys417Gln) c.*92A>C (n.*92A>C) c.1255A>C (p.Lys419Gln) c.1231A>C (p.Lys411Gln) c.1297A>C (p.Lys433Gln) c.814A>C (p.Lys272Gln) c.838A>C (p.Lys280Gln) | |
5 | g.162153198A>G | CA362183573 | GABRG2 | c.1259A>G c.1354A>G (p.Lys452Glu) c.1317A>G n.512A>G c.949A>G (p.Lys317Glu) c.973A>G (p.Lys325Glu) c.*3855A>G (n.*3855A>G) c.1135A>G c.625A>G (p.Lys209Glu) c.1234A>G (p.Lys412Glu) c.1258A>G (p.Lys420Glu) c.1921A>G (n.1921A>G) c.*1439A>G (n.*1439A>G) c.*458A>G (n.*458A>G) c.1192A>G (p.Lys398Glu) c.1168A>G (p.Lys390Glu) n.532A>G n.6205A>G c.696A>G c.1171A>G (p.Lys391Glu) c.1327A>G (p.Lys443Glu) c.1378A>G (p.Lys460Glu) c.*836A>G (n.*836A>G) c.1355A>G (n.1355A>G) c.1249A>G (p.Lys417Glu) c.*92A>G (n.*92A>G) c.1255A>G (p.Lys419Glu) c.1231A>G (p.Lys411Glu) c.1297A>G (p.Lys433Glu) c.814A>G (p.Lys272Glu) c.838A>G (p.Lys280Glu) | gnomAD v4 |
5 | g.162153198A>T | CA362183574 | GABRG2 | c.1259A>T c.1354A>T (p.Lys452Ter) c.1317A>T n.512A>T c.949A>T (p.Lys317Ter) c.973A>T (p.Lys325Ter) c.*3855A>T (n.*3855A>T) c.1135A>T c.625A>T (p.Lys209Ter) c.1234A>T (p.Lys412Ter) c.1258A>T (p.Lys420Ter) c.1921A>T (n.1921A>T) c.*1439A>T (n.*1439A>T) c.*458A>T (n.*458A>T) c.1192A>T (p.Lys398Ter) c.1168A>T (p.Lys390Ter) n.532A>T n.6205A>T c.696A>T c.1171A>T (p.Lys391Ter) c.1327A>T (p.Lys443Ter) c.1378A>T (p.Lys460Ter) c.*836A>T (n.*836A>T) c.1355A>T (n.1355A>T) c.1249A>T (p.Lys417Ter) c.*92A>T (n.*92A>T) c.1255A>T (p.Lys419Ter) c.1231A>T (p.Lys411Ter) c.1297A>T (p.Lys433Ter) c.814A>T (p.Lys272Ter) c.838A>T (p.Lys280Ter) | |
5 | g.162153199A>C | CA362183576 | GABRG2 | c.1260A>C c.1355A>C (p.Lys452Thr) c.1318A>C n.513A>C c.950A>C (p.Lys317Thr) c.974A>C (p.Lys325Thr) c.*3856A>C (n.*3856A>C) c.1136A>C c.626A>C (p.Lys209Thr) c.1235A>C (p.Lys412Thr) c.1259A>C (p.Lys420Thr) c.1922A>C (n.1922A>C) c.*1440A>C (n.*1440A>C) c.*459A>C (n.*459A>C) c.1193A>C (p.Lys398Thr) c.1169A>C (p.Lys390Thr) n.533A>C n.6206A>C c.697A>C c.1172A>C (p.Lys391Thr) c.1328A>C (p.Lys443Thr) c.1379A>C (p.Lys460Thr) c.*837A>C (n.*837A>C) c.1356A>C (n.1356A>C) c.1250A>C (p.Lys417Thr) c.*93A>C (n.*93A>C) c.1256A>C (p.Lys419Thr) c.1232A>C (p.Lys411Thr) c.1298A>C (p.Lys433Thr) c.815A>C (p.Lys272Thr) c.839A>C (p.Lys280Thr) | |
5 | g.162153199A>G | CA362183577 | GABRG2 | c.1260A>G c.1355A>G (p.Lys452Arg) c.1318A>G n.513A>G c.950A>G (p.Lys317Arg) c.974A>G (p.Lys325Arg) c.*3856A>G (n.*3856A>G) c.1136A>G c.626A>G (p.Lys209Arg) c.1235A>G (p.Lys412Arg) c.1259A>G (p.Lys420Arg) c.1922A>G (n.1922A>G) c.*1440A>G (n.*1440A>G) c.*459A>G (n.*459A>G) c.1193A>G (p.Lys398Arg) c.1169A>G (p.Lys390Arg) n.533A>G n.6206A>G c.697A>G c.1172A>G (p.Lys391Arg) c.1328A>G (p.Lys443Arg) c.1379A>G (p.Lys460Arg) c.*837A>G (n.*837A>G) c.1356A>G (n.1356A>G) c.1250A>G (p.Lys417Arg) c.*93A>G (n.*93A>G) c.1256A>G (p.Lys419Arg) c.1232A>G (p.Lys411Arg) c.1298A>G (p.Lys433Arg) c.815A>G (p.Lys272Arg) c.839A>G (p.Lys280Arg) | |
5 | g.162153199A>T | CA362183578 | GABRG2 | c.1260A>T c.1355A>T (p.Lys452Met) c.1318A>T n.513A>T c.950A>T (p.Lys317Met) c.974A>T (p.Lys325Met) c.*3856A>T (n.*3856A>T) c.1136A>T c.626A>T (p.Lys209Met) c.1235A>T (p.Lys412Met) c.1259A>T (p.Lys420Met) c.1922A>T (n.1922A>T) c.*1440A>T (n.*1440A>T) c.*459A>T (n.*459A>T) c.1193A>T (p.Lys398Met) c.1169A>T (p.Lys390Met) n.533A>T n.6206A>T c.697A>T c.1172A>T (p.Lys391Met) c.1328A>T (p.Lys443Met) c.1379A>T (p.Lys460Met) c.*837A>T (n.*837A>T) c.1356A>T (n.1356A>T) c.1250A>T (p.Lys417Met) c.*93A>T (n.*93A>T) c.1256A>T (p.Lys419Met) c.1232A>T (p.Lys411Met) c.1298A>T (p.Lys433Met) c.815A>T (p.Lys272Met) c.839A>T (p.Lys280Met) | |
5 | g.162153200G>A | CA447691789 | GABRG2 | c.1261G>A c.1356G>A (p.Lys452=) c.1319G>A n.514G>A c.951G>A (p.Lys317=) c.975G>A (p.Lys325=) c.*3857G>A (n.*3857G>A) c.1137G>A c.627G>A (p.Lys209=) c.1236G>A (p.Lys412=) c.1260G>A (p.Lys420=) c.1923G>A (n.1923G>A) c.*1441G>A (n.*1441G>A) c.*460G>A (n.*460G>A) c.1194G>A (p.Lys398=) c.1170G>A (p.Lys390=) n.534G>A n.6207G>A c.698G>A c.1173G>A (p.Lys391=) c.1329G>A (p.Lys443=) c.1380G>A (p.Lys460=) c.*838G>A (n.*838G>A) c.1357G>A (n.1357G>A) c.1251G>A (p.Lys417=) c.*94G>A (n.*94G>A) c.1257G>A (p.Lys419=) c.1233G>A (p.Lys411=) c.1299G>A (p.Lys433=) c.816G>A (p.Lys272=) c.840G>A (p.Lys280=) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.162153200G>C | CA362183579 | GABRG2 | c.1261G>C c.1356G>C (p.Lys452Asn) c.1319G>C n.514G>C c.951G>C (p.Lys317Asn) c.975G>C (p.Lys325Asn) c.*3857G>C (n.*3857G>C) c.1137G>C c.627G>C (p.Lys209Asn) c.1236G>C (p.Lys412Asn) c.1260G>C (p.Lys420Asn) c.1923G>C (n.1923G>C) c.*1441G>C (n.*1441G>C) c.*460G>C (n.*460G>C) c.1194G>C (p.Lys398Asn) c.1170G>C (p.Lys390Asn) n.534G>C n.6207G>C c.698G>C c.1173G>C (p.Lys391Asn) c.1329G>C (p.Lys443Asn) c.1380G>C (p.Lys460Asn) c.*838G>C (n.*838G>C) c.1357G>C (n.1357G>C) c.1251G>C (p.Lys417Asn) c.*94G>C (n.*94G>C) c.1257G>C (p.Lys419Asn) c.1233G>C (p.Lys411Asn) c.1299G>C (p.Lys433Asn) c.816G>C (p.Lys272Asn) c.840G>C (p.Lys280Asn) | |
5 | g.162153200G= | CA1596382079 | GABRG2 | c.1261G= c.1356G= (p.Lys452=) c.1319G= n.514G= c.951G= (p.Lys317=) c.975G= (p.Lys325=) c.*3857G= (n.*3857G=) c.1137G= c.627G= (p.Lys209=) c.1236G= (p.Lys412=) c.1260G= (p.Lys420=) c.1923G= (n.1923G=) c.*1441G= (n.*1441G=) c.*460G= (n.*460G=) c.1194G= (p.Lys398=) c.1170G= (p.Lys390=) n.534G= n.6207G= c.698G= c.1173G= (p.Lys391=) c.1329G= (p.Lys443=) c.1380G= (p.Lys460=) c.*838G= (n.*838G=) c.1357G= (n.1357G=) c.1251G= (p.Lys417=) c.*94G= (n.*94G=) c.1257G= (p.Lys419=) c.1233G= (p.Lys411=) c.1299G= (p.Lys433=) c.816G= (p.Lys272=) c.840G= (p.Lys280=) | |
5 | g.162153200G>T | CA362183580 | GABRG2 | c.1261G>T c.1356G>T (p.Lys452Asn) c.1319G>T n.514G>T c.951G>T (p.Lys317Asn) c.975G>T (p.Lys325Asn) c.*3857G>T (n.*3857G>T) c.1137G>T c.627G>T (p.Lys209Asn) c.1236G>T (p.Lys412Asn) c.1260G>T (p.Lys420Asn) c.1923G>T (n.1923G>T) c.*1441G>T (n.*1441G>T) c.*460G>T (n.*460G>T) c.1194G>T (p.Lys398Asn) c.1170G>T (p.Lys390Asn) n.534G>T n.6207G>T c.698G>T c.1173G>T (p.Lys391Asn) c.1329G>T (p.Lys443Asn) c.1380G>T (p.Lys460Asn) c.*838G>T (n.*838G>T) c.1357G>T (n.1357G>T) c.1251G>T (p.Lys417Asn) c.*94G>T (n.*94G>T) c.1257G>T (p.Lys419Asn) c.1233G>T (p.Lys411Asn) c.1299G>T (p.Lys433Asn) c.816G>T (p.Lys272Asn) c.840G>T (p.Lys280Asn) | |
5 | g.162153201G>A | CA362183583 | GABRG2 | c.1262G>A c.1357G>A (p.Asp453Asn) c.1320G>A n.515G>A c.952G>A (p.Asp318Asn) c.976G>A (p.Asp326Asn) c.*3858G>A (n.*3858G>A) c.1138G>A c.628G>A (p.Asp210Asn) c.1237G>A (p.Asp413Asn) c.1261G>A (p.Asp421Asn) c.1924G>A (n.1924G>A) c.*1442G>A (n.*1442G>A) c.*461G>A (n.*461G>A) c.1195G>A (p.Asp399Asn) c.1171G>A (p.Asp391Asn) n.535G>A n.6208G>A c.699G>A c.1174G>A (p.Asp392Asn) c.1330G>A (p.Asp444Asn) c.1381G>A (p.Asp461Asn) c.*839G>A (n.*839G>A) c.1358G>A (n.1358G>A) c.1252G>A (p.Asp418Asn) c.*95G>A (n.*95G>A) c.1258G>A (p.Asp420Asn) c.1234G>A (p.Asp412Asn) c.1300G>A (p.Asp434Asn) c.817G>A (p.Asp273Asn) c.841G>A (p.Asp281Asn) | COSMIC |
5 | g.162153201G>C | CA362183581 | GABRG2 | c.1262G>C c.1357G>C (p.Asp453His) c.1320G>C n.515G>C c.952G>C (p.Asp318His) c.976G>C (p.Asp326His) c.*3858G>C (n.*3858G>C) c.1138G>C c.628G>C (p.Asp210His) c.1237G>C (p.Asp413His) c.1261G>C (p.Asp421His) c.1924G>C (n.1924G>C) c.*1442G>C (n.*1442G>C) c.*461G>C (n.*461G>C) c.1195G>C (p.Asp399His) c.1171G>C (p.Asp391His) n.535G>C n.6208G>C c.699G>C c.1174G>C (p.Asp392His) c.1330G>C (p.Asp444His) c.1381G>C (p.Asp461His) c.*839G>C (n.*839G>C) c.1358G>C (n.1358G>C) c.1252G>C (p.Asp418His) c.*95G>C (n.*95G>C) c.1258G>C (p.Asp420His) c.1234G>C (p.Asp412His) c.1300G>C (p.Asp434His) c.817G>C (p.Asp273His) c.841G>C (p.Asp281His) | |
5 | g.162153201G>T | CA362183582 | GABRG2 | c.1262G>T c.1357G>T (p.Asp453Tyr) c.1320G>T n.515G>T c.952G>T (p.Asp318Tyr) c.976G>T (p.Asp326Tyr) c.*3858G>T (n.*3858G>T) c.1138G>T c.628G>T (p.Asp210Tyr) c.1237G>T (p.Asp413Tyr) c.1261G>T (p.Asp421Tyr) c.1924G>T (n.1924G>T) c.*1442G>T (n.*1442G>T) c.*461G>T (n.*461G>T) c.1195G>T (p.Asp399Tyr) c.1171G>T (p.Asp391Tyr) n.535G>T n.6208G>T c.699G>T c.1174G>T (p.Asp392Tyr) c.1330G>T (p.Asp444Tyr) c.1381G>T (p.Asp461Tyr) c.*839G>T (n.*839G>T) c.1358G>T (n.1358G>T) c.1252G>T (p.Asp418Tyr) c.*95G>T (n.*95G>T) c.1258G>T (p.Asp420Tyr) c.1234G>T (p.Asp412Tyr) c.1300G>T (p.Asp434Tyr) c.817G>T (p.Asp273Tyr) c.841G>T (p.Asp281Tyr) | |
5 | g.162153202A>C | CA362183584 | GABRG2 | c.1263A>C c.1358A>C (p.Asp453Ala) c.1321A>C n.516A>C c.953A>C (p.Asp318Ala) c.977A>C (p.Asp326Ala) c.*3859A>C (n.*3859A>C) c.1139A>C c.629A>C (p.Asp210Ala) c.1238A>C (p.Asp413Ala) c.1262A>C (p.Asp421Ala) c.1925A>C (n.1925A>C) c.*1443A>C (n.*1443A>C) c.*462A>C (n.*462A>C) c.1196A>C (p.Asp399Ala) c.1172A>C (p.Asp391Ala) n.536A>C n.6209A>C c.700A>C c.1175A>C (p.Asp392Ala) c.1331A>C (p.Asp444Ala) c.1382A>C (p.Asp461Ala) c.*840A>C (n.*840A>C) c.1359A>C (n.1359A>C) c.1253A>C (p.Asp418Ala) c.*96A>C (n.*96A>C) c.1259A>C (p.Asp420Ala) c.1235A>C (p.Asp412Ala) c.1301A>C (p.Asp434Ala) c.818A>C (p.Asp273Ala) c.842A>C (p.Asp281Ala) | |
5 | g.162153202A>G | CA362183585 | GABRG2 | c.1263A>G c.1358A>G (p.Asp453Gly) c.1321A>G n.516A>G c.953A>G (p.Asp318Gly) c.977A>G (p.Asp326Gly) c.*3859A>G (n.*3859A>G) c.1139A>G c.629A>G (p.Asp210Gly) c.1238A>G (p.Asp413Gly) c.1262A>G (p.Asp421Gly) c.1925A>G (n.1925A>G) c.*1443A>G (n.*1443A>G) c.*462A>G (n.*462A>G) c.1196A>G (p.Asp399Gly) c.1172A>G (p.Asp391Gly) n.536A>G n.6209A>G c.700A>G c.1175A>G (p.Asp392Gly) c.1331A>G (p.Asp444Gly) c.1382A>G (p.Asp461Gly) c.*840A>G (n.*840A>G) c.1359A>G (n.1359A>G) c.1253A>G (p.Asp418Gly) c.*96A>G (n.*96A>G) c.1259A>G (p.Asp420Gly) c.1235A>G (p.Asp412Gly) c.1301A>G (p.Asp434Gly) c.818A>G (p.Asp273Gly) c.842A>G (p.Asp281Gly) | COSMIC |
5 | g.162153202A>T | CA362183586 | GABRG2 | c.1263A>T c.1358A>T (p.Asp453Val) c.1321A>T n.516A>T c.953A>T (p.Asp318Val) c.977A>T (p.Asp326Val) c.*3859A>T (n.*3859A>T) c.1139A>T c.629A>T (p.Asp210Val) c.1238A>T (p.Asp413Val) c.1262A>T (p.Asp421Val) c.1925A>T (n.1925A>T) c.*1443A>T (n.*1443A>T) c.*462A>T (n.*462A>T) c.1196A>T (p.Asp399Val) c.1172A>T (p.Asp391Val) n.536A>T n.6209A>T c.700A>T c.1175A>T (p.Asp392Val) c.1331A>T (p.Asp444Val) c.1382A>T (p.Asp461Val) c.*840A>T (n.*840A>T) c.1359A>T (n.1359A>T) c.1253A>T (p.Asp418Val) c.*96A>T (n.*96A>T) c.1259A>T (p.Asp420Val) c.1235A>T (p.Asp412Val) c.1301A>T (p.Asp434Val) c.818A>T (p.Asp273Val) c.842A>T (p.Asp281Val) | gnomAD v4 |
5 | g.162153203C>A | CA362183587 | GABRG2 | c.1264C>A c.1359C>A (p.Asp453Glu) c.1322C>A n.517C>A c.954C>A (p.Asp318Glu) c.978C>A (p.Asp326Glu) c.*3860C>A (n.*3860C>A) c.1140C>A c.630C>A (p.Asp210Glu) c.1239C>A (p.Asp413Glu) c.1263C>A (p.Asp421Glu) c.1926C>A (n.1926C>A) c.*1444C>A (n.*1444C>A) c.*463C>A (n.*463C>A) c.1197C>A (p.Asp399Glu) c.1173C>A (p.Asp391Glu) n.537C>A n.6210C>A c.701C>A c.1176C>A (p.Asp392Glu) c.1332C>A (p.Asp444Glu) c.1383C>A (p.Asp461Glu) c.*841C>A (n.*841C>A) c.1360C>A (n.1360C>A) c.1254C>A (p.Asp418Glu) c.*97C>A (n.*97C>A) c.1260C>A (p.Asp420Glu) c.1236C>A (p.Asp412Glu) c.1302C>A (p.Asp434Glu) c.819C>A (p.Asp273Glu) c.843C>A (p.Asp281Glu) | COSMIC |
5 | g.162153203C>G | CA362183588 | GABRG2 | c.1264C>G c.1359C>G (p.Asp453Glu) c.1322C>G n.517C>G c.954C>G (p.Asp318Glu) c.978C>G (p.Asp326Glu) c.*3860C>G (n.*3860C>G) c.1140C>G c.630C>G (p.Asp210Glu) c.1239C>G (p.Asp413Glu) c.1263C>G (p.Asp421Glu) c.1926C>G (n.1926C>G) c.*1444C>G (n.*1444C>G) c.*463C>G (n.*463C>G) c.1197C>G (p.Asp399Glu) c.1173C>G (p.Asp391Glu) n.537C>G n.6210C>G c.701C>G c.1176C>G (p.Asp392Glu) c.1332C>G (p.Asp444Glu) c.1383C>G (p.Asp461Glu) c.*841C>G (n.*841C>G) c.1360C>G (n.1360C>G) c.1254C>G (p.Asp418Glu) c.*97C>G (n.*97C>G) c.1260C>G (p.Asp420Glu) c.1236C>G (p.Asp412Glu) c.1302C>G (p.Asp434Glu) c.819C>G (p.Asp273Glu) c.843C>G (p.Asp281Glu) | |
5 | g.162153203C>T | CA447691792 | GABRG2 | c.1264C>T c.1359C>T (p.Asp453=) c.1322C>T n.517C>T c.954C>T (p.Asp318=) c.978C>T (p.Asp326=) c.*3860C>T (n.*3860C>T) c.1140C>T c.630C>T (p.Asp210=) c.1239C>T (p.Asp413=) c.1263C>T (p.Asp421=) c.1926C>T (n.1926C>T) c.*1444C>T (n.*1444C>T) c.*463C>T (n.*463C>T) c.1197C>T (p.Asp399=) c.1173C>T (p.Asp391=) n.537C>T n.6210C>T c.701C>T c.1176C>T (p.Asp392=) c.1332C>T (p.Asp444=) c.1383C>T (p.Asp461=) c.*841C>T (n.*841C>T) c.1360C>T (n.1360C>T) c.1254C>T (p.Asp418=) c.*97C>T (n.*97C>T) c.1260C>T (p.Asp420=) c.1236C>T (p.Asp412=) c.1302C>T (p.Asp434=) c.819C>T (p.Asp273=) c.843C>T (p.Asp281=) | |
5 | g.162153204T>A | CA362183589 | GABRG2 | c.1265T>A c.1360T>A (p.Cys454Ser) c.1323T>A n.518T>A c.955T>A (p.Cys319Ser) c.979T>A (p.Cys327Ser) c.*3861T>A (n.*3861T>A) c.1141T>A c.631T>A (p.Cys211Ser) c.1240T>A (p.Cys414Ser) c.1264T>A (p.Cys422Ser) c.1927T>A (n.1927T>A) c.*1445T>A (n.*1445T>A) c.*464T>A (n.*464T>A) c.1198T>A (p.Cys400Ser) c.1174T>A (p.Cys392Ser) n.538T>A n.6211T>A c.702T>A c.1177T>A (p.Cys393Ser) c.1333T>A (p.Cys445Ser) c.1384T>A (p.Cys462Ser) c.*842T>A (n.*842T>A) c.1361T>A (n.1361T>A) c.1255T>A (p.Cys419Ser) c.*98T>A (n.*98T>A) c.1261T>A (p.Cys421Ser) c.1237T>A (p.Cys413Ser) c.1303T>A (p.Cys435Ser) c.820T>A (p.Cys274Ser) c.844T>A (p.Cys282Ser) | COSMIC |
5 | g.162153204T>C | CA362183590 | GABRG2 | c.1265T>C c.1360T>C (p.Cys454Arg) c.1323T>C n.518T>C c.955T>C (p.Cys319Arg) c.979T>C (p.Cys327Arg) c.*3861T>C (n.*3861T>C) c.1141T>C c.631T>C (p.Cys211Arg) c.1240T>C (p.Cys414Arg) c.1264T>C (p.Cys422Arg) c.1927T>C (n.1927T>C) c.*1445T>C (n.*1445T>C) c.*464T>C (n.*464T>C) c.1198T>C (p.Cys400Arg) c.1174T>C (p.Cys392Arg) n.538T>C n.6211T>C c.702T>C c.1177T>C (p.Cys393Arg) c.1333T>C (p.Cys445Arg) c.1384T>C (p.Cys462Arg) c.*842T>C (n.*842T>C) c.1361T>C (n.1361T>C) c.1255T>C (p.Cys419Arg) c.*98T>C (n.*98T>C) c.1261T>C (p.Cys421Arg) c.1237T>C (p.Cys413Arg) c.1303T>C (p.Cys435Arg) c.820T>C (p.Cys274Arg) c.844T>C (p.Cys282Arg) | |
5 | g.162153204T>G | CA362183591 | GABRG2 | c.1265T>G c.1360T>G (p.Cys454Gly) c.1323T>G n.518T>G c.955T>G (p.Cys319Gly) c.979T>G (p.Cys327Gly) c.*3861T>G (n.*3861T>G) c.1141T>G c.631T>G (p.Cys211Gly) c.1240T>G (p.Cys414Gly) c.1264T>G (p.Cys422Gly) c.1927T>G (n.1927T>G) c.*1445T>G (n.*1445T>G) c.*464T>G (n.*464T>G) c.1198T>G (p.Cys400Gly) c.1174T>G (p.Cys392Gly) n.538T>G n.6211T>G c.702T>G c.1177T>G (p.Cys393Gly) c.1333T>G (p.Cys445Gly) c.1384T>G (p.Cys462Gly) c.*842T>G (n.*842T>G) c.1361T>G (n.1361T>G) c.1255T>G (p.Cys419Gly) c.*98T>G (n.*98T>G) c.1261T>G (p.Cys421Gly) c.1237T>G (p.Cys413Gly) c.1303T>G (p.Cys435Gly) c.820T>G (p.Cys274Gly) c.844T>G (p.Cys282Gly) | |
5 | g.162153205G>A | CA362183592 | GABRG2 | c.1266G>A c.1361G>A (p.Cys454Tyr) c.1324G>A n.519G>A c.956G>A (p.Cys319Tyr) c.980G>A (p.Cys327Tyr) c.*3862G>A (n.*3862G>A) c.1142G>A c.632G>A (p.Cys211Tyr) c.1241G>A (p.Cys414Tyr) c.1265G>A (p.Cys422Tyr) c.1928G>A (n.1928G>A) c.*1446G>A (n.*1446G>A) c.*465G>A (n.*465G>A) c.1199G>A (p.Cys400Tyr) c.1175G>A (p.Cys392Tyr) n.539G>A n.6212G>A c.703G>A c.1178G>A (p.Cys393Tyr) c.1334G>A (p.Cys445Tyr) c.1385G>A (p.Cys462Tyr) c.*843G>A (n.*843G>A) c.1362G>A (n.1362G>A) c.1256G>A (p.Cys419Tyr) c.*99G>A (n.*99G>A) c.1262G>A (p.Cys421Tyr) c.1238G>A (p.Cys413Tyr) c.1304G>A (p.Cys435Tyr) c.821G>A (p.Cys274Tyr) c.845G>A (p.Cys282Tyr) | |
5 | g.162153205G>C | CA362183593 | GABRG2 | c.1266G>C c.1361G>C (p.Cys454Ser) c.1324G>C n.519G>C c.956G>C (p.Cys319Ser) c.980G>C (p.Cys327Ser) c.*3862G>C (n.*3862G>C) c.1142G>C c.632G>C (p.Cys211Ser) c.1241G>C (p.Cys414Ser) c.1265G>C (p.Cys422Ser) c.1928G>C (n.1928G>C) c.*1446G>C (n.*1446G>C) c.*465G>C (n.*465G>C) c.1199G>C (p.Cys400Ser) c.1175G>C (p.Cys392Ser) n.539G>C n.6212G>C c.703G>C c.1178G>C (p.Cys393Ser) c.1334G>C (p.Cys445Ser) c.1385G>C (p.Cys462Ser) c.*843G>C (n.*843G>C) c.1362G>C (n.1362G>C) c.1256G>C (p.Cys419Ser) c.*99G>C (n.*99G>C) c.1262G>C (p.Cys421Ser) c.1238G>C (p.Cys413Ser) c.1304G>C (p.Cys435Ser) c.821G>C (p.Cys274Ser) c.845G>C (p.Cys282Ser) | |
5 | g.162153205G>T | CA362183594 | GABRG2 | c.1266G>T c.1361G>T (p.Cys454Phe) c.1324G>T n.519G>T c.956G>T (p.Cys319Phe) c.980G>T (p.Cys327Phe) c.*3862G>T (n.*3862G>T) c.1142G>T c.632G>T (p.Cys211Phe) c.1241G>T (p.Cys414Phe) c.1265G>T (p.Cys422Phe) c.1928G>T (n.1928G>T) c.*1446G>T (n.*1446G>T) c.*465G>T (n.*465G>T) c.1199G>T (p.Cys400Phe) c.1175G>T (p.Cys392Phe) n.539G>T n.6212G>T c.703G>T c.1178G>T (p.Cys393Phe) c.1334G>T (p.Cys445Phe) c.1385G>T (p.Cys462Phe) c.*843G>T (n.*843G>T) c.1362G>T (n.1362G>T) c.1256G>T (p.Cys419Phe) c.*99G>T (n.*99G>T) c.1262G>T (p.Cys421Phe) c.1238G>T (p.Cys413Phe) c.1304G>T (p.Cys435Phe) c.821G>T (p.Cys274Phe) c.845G>T (p.Cys282Phe) | |
5 | g.162153206T>A | CA362183596 | GABRG2 | c.1267T>A c.1362T>A (p.Cys454Ter) c.1325T>A n.520T>A c.957T>A (p.Cys319Ter) c.981T>A (p.Cys327Ter) c.*3863T>A (n.*3863T>A) c.1143T>A c.633T>A (p.Cys211Ter) c.1242T>A (p.Cys414Ter) c.1266T>A (p.Cys422Ter) c.1929T>A (n.1929T>A) c.*1447T>A (n.*1447T>A) c.*466T>A (n.*466T>A) c.1200T>A (p.Cys400Ter) c.1176T>A (p.Cys392Ter) n.540T>A n.6213T>A c.704T>A c.1179T>A (p.Cys393Ter) c.1335T>A (p.Cys445Ter) c.1386T>A (p.Cys462Ter) c.*844T>A (n.*844T>A) c.1363T>A (n.1363T>A) c.1257T>A (p.Cys419Ter) c.*100T>A (n.*100T>A) c.1263T>A (p.Cys421Ter) c.1239T>A (p.Cys413Ter) c.1305T>A (p.Cys435Ter) c.822T>A (p.Cys274Ter) c.846T>A (p.Cys282Ter) | |
5 | g.162153206T>C | CA447691794 | GABRG2 | c.1267T>C c.1362T>C (p.Cys454=) c.1325T>C n.520T>C c.957T>C (p.Cys319=) c.981T>C (p.Cys327=) c.*3863T>C (n.*3863T>C) c.1143T>C c.633T>C (p.Cys211=) c.1242T>C (p.Cys414=) c.1266T>C (p.Cys422=) c.1929T>C (n.1929T>C) c.*1447T>C (n.*1447T>C) c.*466T>C (n.*466T>C) c.1200T>C (p.Cys400=) c.1176T>C (p.Cys392=) n.540T>C n.6213T>C c.704T>C c.1179T>C (p.Cys393=) c.1335T>C (p.Cys445=) c.1386T>C (p.Cys462=) c.*844T>C (n.*844T>C) c.1363T>C (n.1363T>C) c.1257T>C (p.Cys419=) c.*100T>C (n.*100T>C) c.1263T>C (p.Cys421=) c.1239T>C (p.Cys413=) c.1305T>C (p.Cys435=) c.822T>C (p.Cys274=) c.846T>C (p.Cys282=) | dbSNP gnomAD v4 |
5 | g.162153206T>G | CA362183595 | GABRG2 | c.1267T>G c.1362T>G (p.Cys454Trp) c.1325T>G n.520T>G c.957T>G (p.Cys319Trp) c.981T>G (p.Cys327Trp) c.*3863T>G (n.*3863T>G) c.1143T>G c.633T>G (p.Cys211Trp) c.1242T>G (p.Cys414Trp) c.1266T>G (p.Cys422Trp) c.1929T>G (n.1929T>G) c.*1447T>G (n.*1447T>G) c.*466T>G (n.*466T>G) c.1200T>G (p.Cys400Trp) c.1176T>G (p.Cys392Trp) n.540T>G n.6213T>G c.704T>G c.1179T>G (p.Cys393Trp) c.1335T>G (p.Cys445Trp) c.1386T>G (p.Cys462Trp) c.*844T>G (n.*844T>G) c.1363T>G (n.1363T>G) c.1257T>G (p.Cys419Trp) c.*100T>G (n.*100T>G) c.1263T>G (p.Cys421Trp) c.1239T>G (p.Cys413Trp) c.1305T>G (p.Cys435Trp) c.822T>G (p.Cys274Trp) c.846T>G (p.Cys282Trp) | |
5 | g.162153206T= | CA1596382083 | GABRG2 | c.1267T= c.1362T= (p.Cys454=) c.1325T= n.520T= c.957T= (p.Cys319=) c.981T= (p.Cys327=) c.*3863T= (n.*3863T=) c.1143T= c.633T= (p.Cys211=) c.1242T= (p.Cys414=) c.1266T= (p.Cys422=) c.1929T= (n.1929T=) c.*1447T= (n.*1447T=) c.*466T= (n.*466T=) c.1200T= (p.Cys400=) c.1176T= (p.Cys392=) n.540T= n.6213T= c.704T= c.1179T= (p.Cys393=) c.1335T= (p.Cys445=) c.1386T= (p.Cys462=) c.*844T= (n.*844T=) c.1363T= (n.1363T=) c.1257T= (p.Cys419=) c.*100T= (n.*100T=) c.1263T= (p.Cys421=) c.1239T= (p.Cys413=) c.1305T= (p.Cys435=) c.822T= (p.Cys274=) c.846T= (p.Cys282=) | |
5 | g.162153207G>A | CA362183597 | GABRG2 | c.1268G>A c.1363G>A (p.Ala455Thr) c.1326G>A n.521G>A c.958G>A (p.Ala320Thr) c.982G>A (p.Ala328Thr) c.*3864G>A (n.*3864G>A) c.1144G>A c.634G>A (p.Ala212Thr) c.1243G>A (p.Ala415Thr) c.1267G>A (p.Ala423Thr) c.1930G>A (n.1930G>A) c.*1448G>A (n.*1448G>A) c.*467G>A (n.*467G>A) c.1201G>A (p.Ala401Thr) c.1177G>A (p.Ala393Thr) n.541G>A n.6214G>A c.705G>A c.1180G>A (p.Ala394Thr) c.1336G>A (p.Ala446Thr) c.1387G>A (p.Ala463Thr) c.*845G>A (n.*845G>A) c.1364G>A (n.1364G>A) c.1258G>A (p.Ala420Thr) c.*101G>A (n.*101G>A) c.1264G>A (p.Ala422Thr) c.1240G>A (p.Ala414Thr) c.1306G>A (p.Ala436Thr) c.823G>A (p.Ala275Thr) c.847G>A (p.Ala283Thr) | |
5 | g.162153207G>C | CA362183598 | GABRG2 | c.1268G>C c.1363G>C (p.Ala455Pro) c.1326G>C n.521G>C c.958G>C (p.Ala320Pro) c.982G>C (p.Ala328Pro) c.*3864G>C (n.*3864G>C) c.1144G>C c.634G>C (p.Ala212Pro) c.1243G>C (p.Ala415Pro) c.1267G>C (p.Ala423Pro) c.1930G>C (n.1930G>C) c.*1448G>C (n.*1448G>C) c.*467G>C (n.*467G>C) c.1201G>C (p.Ala401Pro) c.1177G>C (p.Ala393Pro) n.541G>C n.6214G>C c.705G>C c.1180G>C (p.Ala394Pro) c.1336G>C (p.Ala446Pro) c.1387G>C (p.Ala463Pro) c.*845G>C (n.*845G>C) c.1364G>C (n.1364G>C) c.1258G>C (p.Ala420Pro) c.*101G>C (n.*101G>C) c.1264G>C (p.Ala422Pro) c.1240G>C (p.Ala414Pro) c.1306G>C (p.Ala436Pro) c.823G>C (p.Ala275Pro) c.847G>C (p.Ala283Pro) | |
5 | g.162153207G>T | CA362183599 | GABRG2 | c.1268G>T c.1363G>T (p.Ala455Ser) c.1326G>T n.521G>T c.958G>T (p.Ala320Ser) c.982G>T (p.Ala328Ser) c.*3864G>T (n.*3864G>T) c.1144G>T c.634G>T (p.Ala212Ser) c.1243G>T (p.Ala415Ser) c.1267G>T (p.Ala423Ser) c.1930G>T (n.1930G>T) c.*1448G>T (n.*1448G>T) c.*467G>T (n.*467G>T) c.1201G>T (p.Ala401Ser) c.1177G>T (p.Ala393Ser) n.541G>T n.6214G>T c.705G>T c.1180G>T (p.Ala394Ser) c.1336G>T (p.Ala446Ser) c.1387G>T (p.Ala463Ser) c.*845G>T (n.*845G>T) c.1364G>T (n.1364G>T) c.1258G>T (p.Ala420Ser) c.*101G>T (n.*101G>T) c.1264G>T (p.Ala422Ser) c.1240G>T (p.Ala414Ser) c.1306G>T (p.Ala436Ser) c.823G>T (p.Ala275Ser) c.847G>T (p.Ala283Ser) | |
5 | g.162153208C>A | CA362183600 | GABRG2 | c.1269C>A c.1364C>A (p.Ala455Asp) c.1327C>A n.522C>A c.959C>A (p.Ala320Asp) c.983C>A (p.Ala328Asp) c.*3865C>A (n.*3865C>A) c.1145C>A c.635C>A (p.Ala212Asp) c.1244C>A (p.Ala415Asp) c.1268C>A (p.Ala423Asp) c.1931C>A (n.1931C>A) c.*1449C>A (n.*1449C>A) c.*468C>A (n.*468C>A) c.1202C>A (p.Ala401Asp) c.1178C>A (p.Ala393Asp) n.542C>A n.6215C>A c.706C>A c.1181C>A (p.Ala394Asp) c.1337C>A (p.Ala446Asp) c.1388C>A (p.Ala463Asp) c.*846C>A (n.*846C>A) c.1365C>A (n.1365C>A) c.1259C>A (p.Ala420Asp) c.*102C>A (n.*102C>A) c.1265C>A (p.Ala422Asp) c.1241C>A (p.Ala414Asp) c.1307C>A (p.Ala436Asp) c.824C>A (p.Ala275Asp) c.848C>A (p.Ala283Asp) | |
5 | g.162153208C>G | CA362183601 | GABRG2 | c.1269C>G c.1364C>G (p.Ala455Gly) c.1327C>G n.522C>G c.959C>G (p.Ala320Gly) c.983C>G (p.Ala328Gly) c.*3865C>G (n.*3865C>G) c.1145C>G c.635C>G (p.Ala212Gly) c.1244C>G (p.Ala415Gly) c.1268C>G (p.Ala423Gly) c.1931C>G (n.1931C>G) c.*1449C>G (n.*1449C>G) c.*468C>G (n.*468C>G) c.1202C>G (p.Ala401Gly) c.1178C>G (p.Ala393Gly) n.542C>G n.6215C>G c.706C>G c.1181C>G (p.Ala394Gly) c.1337C>G (p.Ala446Gly) c.1388C>G (p.Ala463Gly) c.*846C>G (n.*846C>G) c.1365C>G (n.1365C>G) c.1259C>G (p.Ala420Gly) c.*102C>G (n.*102C>G) c.1265C>G (p.Ala422Gly) c.1241C>G (p.Ala414Gly) c.1307C>G (p.Ala436Gly) c.824C>G (p.Ala275Gly) c.848C>G (p.Ala283Gly) | |
5 | g.162153208C>T | CA362183602 | GABRG2 | c.1269C>T c.1364C>T (p.Ala455Val) c.1327C>T n.522C>T c.959C>T (p.Ala320Val) c.983C>T (p.Ala328Val) c.*3865C>T (n.*3865C>T) c.1145C>T c.635C>T (p.Ala212Val) c.1244C>T (p.Ala415Val) c.1268C>T (p.Ala423Val) c.1931C>T (n.1931C>T) c.*1449C>T (n.*1449C>T) c.*468C>T (n.*468C>T) c.1202C>T (p.Ala401Val) c.1178C>T (p.Ala393Val) n.542C>T n.6215C>T c.706C>T c.1181C>T (p.Ala394Val) c.1337C>T (p.Ala446Val) c.1388C>T (p.Ala463Val) c.*846C>T (n.*846C>T) c.1365C>T (n.1365C>T) c.1259C>T (p.Ala420Val) c.*102C>T (n.*102C>T) c.1265C>T (p.Ala422Val) c.1241C>T (p.Ala414Val) c.1307C>T (p.Ala436Val) c.824C>T (p.Ala275Val) c.848C>T (p.Ala283Val) | ClinVar |
5 | g.162153209C>A | CA447691796 | GABRG2 | c.1270C>A c.1365C>A (p.Ala455=) c.1328C>A n.523C>A c.960C>A (p.Ala320=) c.984C>A (p.Ala328=) c.*3866C>A (n.*3866C>A) c.1146C>A c.636C>A (p.Ala212=) c.1245C>A (p.Ala415=) c.1269C>A (p.Ala423=) c.1932C>A (n.1932C>A) c.*1450C>A (n.*1450C>A) c.*469C>A (n.*469C>A) c.1203C>A (p.Ala401=) c.1179C>A (p.Ala393=) n.543C>A n.6216C>A c.707C>A c.1182C>A (p.Ala394=) c.1338C>A (p.Ala446=) c.1389C>A (p.Ala463=) c.*847C>A (n.*847C>A) c.1366C>A (n.1366C>A) c.1260C>A (p.Ala420=) c.*103C>A (n.*103C>A) c.1266C>A (p.Ala422=) c.1242C>A (p.Ala414=) c.1308C>A (p.Ala436=) c.825C>A (p.Ala275=) c.849C>A (p.Ala283=) | |
5 | g.162153209C= | CA1596382085 | GABRG2 | c.1270C= c.1365C= (p.Ala455=) c.1328C= n.523C= c.960C= (p.Ala320=) c.984C= (p.Ala328=) c.*3866C= (n.*3866C=) c.1146C= c.636C= (p.Ala212=) c.1245C= (p.Ala415=) c.1269C= (p.Ala423=) c.1932C= (n.1932C=) c.*1450C= (n.*1450C=) c.*469C= (n.*469C=) c.1203C= (p.Ala401=) c.1179C= (p.Ala393=) n.543C= n.6216C= c.707C= c.1182C= (p.Ala394=) c.1338C= (p.Ala446=) c.1389C= (p.Ala463=) c.*847C= (n.*847C=) c.1366C= (n.1366C=) c.1260C= (p.Ala420=) c.*103C= (n.*103C=) c.1266C= (p.Ala422=) c.1242C= (p.Ala414=) c.1308C= (p.Ala436=) c.825C= (p.Ala275=) c.849C= (p.Ala283=) | |
5 | g.162153209C>G | CA447691798 | GABRG2 | c.1270C>G c.1365C>G (p.Ala455=) c.1328C>G n.523C>G c.960C>G (p.Ala320=) c.984C>G (p.Ala328=) c.*3866C>G (n.*3866C>G) c.1146C>G c.636C>G (p.Ala212=) c.1245C>G (p.Ala415=) c.1269C>G (p.Ala423=) c.1932C>G (n.1932C>G) c.*1450C>G (n.*1450C>G) c.*469C>G (n.*469C>G) c.1203C>G (p.Ala401=) c.1179C>G (p.Ala393=) n.543C>G n.6216C>G c.707C>G c.1182C>G (p.Ala394=) c.1338C>G (p.Ala446=) c.1389C>G (p.Ala463=) c.*847C>G (n.*847C>G) c.1366C>G (n.1366C>G) c.1260C>G (p.Ala420=) c.*103C>G (n.*103C>G) c.1266C>G (p.Ala422=) c.1242C>G (p.Ala414=) c.1308C>G (p.Ala436=) c.825C>G (p.Ala275=) c.849C>G (p.Ala283=) | |
5 | g.162153209C>T | CA447691797 | GABRG2 | c.1270C>T c.1365C>T (p.Ala455=) c.1328C>T n.523C>T c.960C>T (p.Ala320=) c.984C>T (p.Ala328=) c.*3866C>T (n.*3866C>T) c.1146C>T c.636C>T (p.Ala212=) c.1245C>T (p.Ala415=) c.1269C>T (p.Ala423=) c.1932C>T (n.1932C>T) c.*1450C>T (n.*1450C>T) c.*469C>T (n.*469C>T) c.1203C>T (p.Ala401=) c.1179C>T (p.Ala393=) n.543C>T n.6216C>T c.707C>T c.1182C>T (p.Ala394=) c.1338C>T (p.Ala446=) c.1389C>T (p.Ala463=) c.*847C>T (n.*847C>T) c.1366C>T (n.1366C>T) c.1260C>T (p.Ala420=) c.*103C>T (n.*103C>T) c.1266C>T (p.Ala422=) c.1242C>T (p.Ala414=) c.1308C>T (p.Ala436=) c.825C>T (p.Ala275=) c.849C>T (p.Ala283=) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.162153210A>C | CA362183605 | GABRG2 | c.1271A>C c.1366A>C (p.Ser456Arg) c.1329A>C n.524A>C c.961A>C (p.Ser321Arg) c.985A>C (p.Ser329Arg) c.*3867A>C (n.*3867A>C) c.1147A>C c.637A>C (p.Ser213Arg) c.1246A>C (p.Ser416Arg) c.1270A>C (p.Ser424Arg) c.1933A>C (n.1933A>C) c.*1451A>C (n.*1451A>C) c.*470A>C (n.*470A>C) c.1204A>C (p.Ser402Arg) c.1180A>C (p.Ser394Arg) n.544A>C n.6217A>C c.708A>C c.1183A>C (p.Ser395Arg) c.1339A>C (p.Ser447Arg) c.1390A>C (p.Ser464Arg) c.*848A>C (n.*848A>C) c.1367A>C (n.1367A>C) c.1261A>C (p.Ser421Arg) c.*104A>C (n.*104A>C) c.1267A>C (p.Ser423Arg) c.1243A>C (p.Ser415Arg) c.1309A>C (p.Ser437Arg) c.826A>C (p.Ser276Arg) c.850A>C (p.Ser284Arg) | |
5 | g.162153210A>G | CA362183603 | GABRG2 | c.1271A>G c.1366A>G (p.Ser456Gly) c.1329A>G n.524A>G c.961A>G (p.Ser321Gly) c.985A>G (p.Ser329Gly) c.*3867A>G (n.*3867A>G) c.1147A>G c.637A>G (p.Ser213Gly) c.1246A>G (p.Ser416Gly) c.1270A>G (p.Ser424Gly) c.1933A>G (n.1933A>G) c.*1451A>G (n.*1451A>G) c.*470A>G (n.*470A>G) c.1204A>G (p.Ser402Gly) c.1180A>G (p.Ser394Gly) n.544A>G n.6217A>G c.708A>G c.1183A>G (p.Ser395Gly) c.1339A>G (p.Ser447Gly) c.1390A>G (p.Ser464Gly) c.*848A>G (n.*848A>G) c.1367A>G (n.1367A>G) c.1261A>G (p.Ser421Gly) c.*104A>G (n.*104A>G) c.1267A>G (p.Ser423Gly) c.1243A>G (p.Ser415Gly) c.1309A>G (p.Ser437Gly) c.826A>G (p.Ser276Gly) c.850A>G (p.Ser284Gly) | |
5 | g.162153210A>T | CA362183604 | GABRG2 | c.1271A>T c.1366A>T (p.Ser456Cys) c.1329A>T n.524A>T c.961A>T (p.Ser321Cys) c.985A>T (p.Ser329Cys) c.*3867A>T (n.*3867A>T) c.1147A>T c.637A>T (p.Ser213Cys) c.1246A>T (p.Ser416Cys) c.1270A>T (p.Ser424Cys) c.1933A>T (n.1933A>T) c.*1451A>T (n.*1451A>T) c.*470A>T (n.*470A>T) c.1204A>T (p.Ser402Cys) c.1180A>T (p.Ser394Cys) n.544A>T n.6217A>T c.708A>T c.1183A>T (p.Ser395Cys) c.1339A>T (p.Ser447Cys) c.1390A>T (p.Ser464Cys) c.*848A>T (n.*848A>T) c.1367A>T (n.1367A>T) c.1261A>T (p.Ser421Cys) c.*104A>T (n.*104A>T) c.1267A>T (p.Ser423Cys) c.1243A>T (p.Ser415Cys) c.1309A>T (p.Ser437Cys) c.826A>T (p.Ser276Cys) c.850A>T (p.Ser284Cys) | |
5 | g.162153211G>A | CA3544984 | GABRG2 | c.1272G>A c.1367G>A (p.Ser456Asn) c.1330G>A n.525G>A c.962G>A (p.Ser321Asn) c.986G>A (p.Ser329Asn) c.*3868G>A (n.*3868G>A) c.1148G>A c.638G>A (p.Ser213Asn) c.1247G>A (p.Ser416Asn) c.1271G>A (p.Ser424Asn) c.1934G>A (n.1934G>A) c.*1452G>A (n.*1452G>A) c.*471G>A (n.*471G>A) c.1205G>A (p.Ser402Asn) c.1181G>A (p.Ser394Asn) n.545G>A n.6218G>A c.709G>A c.1184G>A (p.Ser395Asn) c.1340G>A (p.Ser447Asn) c.1391G>A (p.Ser464Asn) c.*849G>A (n.*849G>A) c.1368G>A (n.1368G>A) c.1262G>A (p.Ser421Asn) c.*105G>A (n.*105G>A) c.1268G>A (p.Ser423Asn) c.1244G>A (p.Ser415Asn) c.1310G>A (p.Ser437Asn) c.827G>A (p.Ser276Asn) c.851G>A (p.Ser284Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.162153211G>C | CA362183606 | GABRG2 | c.1272G>C c.1367G>C (p.Ser456Thr) c.1330G>C n.525G>C c.962G>C (p.Ser321Thr) c.986G>C (p.Ser329Thr) c.*3868G>C (n.*3868G>C) c.1148G>C c.638G>C (p.Ser213Thr) c.1247G>C (p.Ser416Thr) c.1271G>C (p.Ser424Thr) c.1934G>C (n.1934G>C) c.*1452G>C (n.*1452G>C) c.*471G>C (n.*471G>C) c.1205G>C (p.Ser402Thr) c.1181G>C (p.Ser394Thr) n.545G>C n.6218G>C c.709G>C c.1184G>C (p.Ser395Thr) c.1340G>C (p.Ser447Thr) c.1391G>C (p.Ser464Thr) c.*849G>C (n.*849G>C) c.1368G>C (n.1368G>C) c.1262G>C (p.Ser421Thr) c.*105G>C (n.*105G>C) c.1268G>C (p.Ser423Thr) c.1244G>C (p.Ser415Thr) c.1310G>C (p.Ser437Thr) c.827G>C (p.Ser276Thr) c.851G>C (p.Ser284Thr) | |
5 | g.162153211G= | CA1596382087 | GABRG2 | c.1272G= c.1367G= (p.Ser456=) c.1330G= n.525G= c.962G= (p.Ser321=) c.986G= (p.Ser329=) c.*3868G= (n.*3868G=) c.1148G= c.638G= (p.Ser213=) c.1247G= (p.Ser416=) c.1271G= (p.Ser424=) c.1934G= (n.1934G=) c.*1452G= (n.*1452G=) c.*471G= (n.*471G=) c.1205G= (p.Ser402=) c.1181G= (p.Ser394=) n.545G= n.6218G= c.709G= c.1184G= (p.Ser395=) c.1340G= (p.Ser447=) c.1391G= (p.Ser464=) c.*849G= (n.*849G=) c.1368G= (n.1368G=) c.1262G= (p.Ser421=) c.*105G= (n.*105G=) c.1268G= (p.Ser423=) c.1244G= (p.Ser415=) c.1310G= (p.Ser437=) c.827G= (p.Ser276=) c.851G= (p.Ser284=) | |
5 | g.162153211G>T | CA362183607 | GABRG2 | c.1272G>T c.1367G>T (p.Ser456Ile) c.1330G>T n.525G>T c.962G>T (p.Ser321Ile) c.986G>T (p.Ser329Ile) c.*3868G>T (n.*3868G>T) c.1148G>T c.638G>T (p.Ser213Ile) c.1247G>T (p.Ser416Ile) c.1271G>T (p.Ser424Ile) c.1934G>T (n.1934G>T) c.*1452G>T (n.*1452G>T) c.*471G>T (n.*471G>T) c.1205G>T (p.Ser402Ile) c.1181G>T (p.Ser394Ile) n.545G>T n.6218G>T c.709G>T c.1184G>T (p.Ser395Ile) c.1340G>T (p.Ser447Ile) c.1391G>T (p.Ser464Ile) c.*849G>T (n.*849G>T) c.1368G>T (n.1368G>T) c.1262G>T (p.Ser421Ile) c.*105G>T (n.*105G>T) c.1268G>T (p.Ser423Ile) c.1244G>T (p.Ser415Ile) c.1310G>T (p.Ser437Ile) c.827G>T (p.Ser276Ile) c.851G>T (p.Ser284Ile) | ClinVar COSMIC |
5 | g.162153211_162153212delinsGT | CA1596382089 | GABRG2 | c.1272_1273delinsGT c.1367_1368delinsGT (p.Ser456=) c.1330_1331delinsGT n.525_526delinsGT c.962_963delinsGT (p.Ser321=) c.986_987delinsGT (p.Ser329=) c.*3868_*3869delinsGT (n.*3868_*3869delinsGT) c.1148_1149delinsGT c.638_639delinsGT (p.Ser213=) c.1247_1248delinsGT (p.Ser416=) c.1271_1272delinsGT (p.Ser424=) c.1934_1935delinsGT (n.1934_1935delinsGT) c.*1452_*1453delinsGT (n.*1452_*1453delinsGT) c.*471_*472delinsGT (n.*471_*472delinsGT) c.1205_1206delinsGT (p.Ser402=) c.1181_1182delinsGT (p.Ser394=) n.545_546delinsGT n.6218_6219delinsGT c.709_710delinsGT c.1184_1185delinsGT (p.Ser395=) c.1340_1341delinsGT (p.Ser447=) c.1391_1392delinsGT (p.Ser464=) c.*849_*850delinsGT (n.*849_*850delinsGT) c.1368_1369delinsGT (n.1368_1369delinsGT) c.1262_1263delinsGT (p.Ser421=) c.*105_*106delinsGT (n.*105_*106delinsGT) c.1268_1269delinsGT (p.Ser423=) c.1244_1245delinsGT (p.Ser415=) c.1310_1311delinsGT (p.Ser437=) c.827_828delinsGT (p.Ser276=) c.851_852delinsGT (p.Ser284=) | |
5 | g.162153212T>A | CA362183608 | GABRG2 | c.1273T>A c.1368T>A (p.Ser456Arg) c.1331T>A n.526T>A c.963T>A (p.Ser321Arg) c.987T>A (p.Ser329Arg) c.*3869T>A (n.*3869T>A) c.1149T>A c.639T>A (p.Ser213Arg) c.1248T>A (p.Ser416Arg) c.1272T>A (p.Ser424Arg) c.1935T>A (n.1935T>A) c.*1453T>A (n.*1453T>A) c.*472T>A (n.*472T>A) c.1206T>A (p.Ser402Arg) c.1182T>A (p.Ser394Arg) n.546T>A n.6219T>A c.710T>A c.1185T>A (p.Ser395Arg) c.1341T>A (p.Ser447Arg) c.1392T>A (p.Ser464Arg) c.*850T>A (n.*850T>A) c.1369T>A (n.1369T>A) c.1263T>A (p.Ser421Arg) c.*106T>A (n.*106T>A) c.1269T>A (p.Ser423Arg) c.1245T>A (p.Ser415Arg) c.1311T>A (p.Ser437Arg) c.828T>A (p.Ser276Arg) c.852T>A (p.Ser284Arg) | |
5 | g.162153212T>C | CA447691800 | GABRG2 | c.1273T>C c.1368T>C (p.Ser456=) c.1331T>C n.526T>C c.963T>C (p.Ser321=) c.987T>C (p.Ser329=) c.*3869T>C (n.*3869T>C) c.1149T>C c.639T>C (p.Ser213=) c.1248T>C (p.Ser416=) c.1272T>C (p.Ser424=) c.1935T>C (n.1935T>C) c.*1453T>C (n.*1453T>C) c.*472T>C (n.*472T>C) c.1206T>C (p.Ser402=) c.1182T>C (p.Ser394=) n.546T>C n.6219T>C c.710T>C c.1185T>C (p.Ser395=) c.1341T>C (p.Ser447=) c.1392T>C (p.Ser464=) c.*850T>C (n.*850T>C) c.1369T>C (n.1369T>C) c.1263T>C (p.Ser421=) c.*106T>C (n.*106T>C) c.1269T>C (p.Ser423=) c.1245T>C (p.Ser415=) c.1311T>C (p.Ser437=) c.828T>C (p.Ser276=) c.852T>C (p.Ser284=) | |
5 | g.162153212T>G | CA362183609 | GABRG2 | c.1273T>G c.1368T>G (p.Ser456Arg) c.1331T>G n.526T>G c.963T>G (p.Ser321Arg) c.987T>G (p.Ser329Arg) c.*3869T>G (n.*3869T>G) c.1149T>G c.639T>G (p.Ser213Arg) c.1248T>G (p.Ser416Arg) c.1272T>G (p.Ser424Arg) c.1935T>G (n.1935T>G) c.*1453T>G (n.*1453T>G) c.*472T>G (n.*472T>G) c.1206T>G (p.Ser402Arg) c.1182T>G (p.Ser394Arg) n.546T>G n.6219T>G c.710T>G c.1185T>G (p.Ser395Arg) c.1341T>G (p.Ser447Arg) c.1392T>G (p.Ser464Arg) c.*850T>G (n.*850T>G) c.1369T>G (n.1369T>G) c.1263T>G (p.Ser421Arg) c.*106T>G (n.*106T>G) c.1269T>G (p.Ser423Arg) c.1245T>G (p.Ser415Arg) c.1311T>G (p.Ser437Arg) c.828T>G (p.Ser276Arg) c.852T>G (p.Ser284Arg) | |
5 | g.162153217dup | CA1596382094 | GABRG2 | c.1278dup c.1373dup (p.Cys459LeufsTer4) c.1336dup n.531dup c.968dup (p.Cys324LeufsTer4) c.992dup (p.Cys332LeufsTer4) c.*3874dup (n.*3874dup) c.1154dup c.644dup (p.Cys216LeufsTer4) c.1253dup (p.Cys419LeufsTer4) c.1277dup (p.Cys427LeufsTer4) c.1940dup (n.1940dup) c.*1458dup (n.*1458dup) c.*477dup (n.*477dup) c.1211dup (p.Cys405LeufsTer4) c.1187dup (p.Cys397LeufsTer4) n.551dup n.6224dup c.715dup c.1190dup (p.Cys398LeufsTer4) c.1346dup (p.Cys450LeufsTer4) c.1397dup (p.Cys467LeufsTer4) c.*855dup (n.*855dup) c.1374dup (n.1374dup) c.1268dup (p.Cys424LeufsTer4) c.*111dup (n.*111dup) c.1274dup (p.Cys426LeufsTer4) c.1250dup (p.Cys418LeufsTer4) c.1316dup (p.Cys440LeufsTer4) c.833dup (p.Cys279LeufsTer4) c.857dup (p.Cys287LeufsTer4) | ClinVar dbSNP |
5 | g.162153217del | CA564438696 | GABRG2 | c.1278del c.1373del (p.Phe458SerfsTer?) c.1336del n.531del c.968del (p.Phe323SerfsTer?) c.992del (p.Phe331SerfsTer?) c.*3874del (n.*3874del) c.1154del c.644del (p.Phe215SerfsTer?) c.1253del (p.Phe418SerfsTer?) c.1277del (p.Phe426SerfsTer?) c.1940del (n.1940del) c.*1458del (n.*1458del) c.*477del (n.*477del) c.1211del (p.Phe404SerfsTer?) c.1187del (p.Phe396SerfsTer?) n.551del n.6224del c.715del c.1190del (p.Phe397SerfsTer?) c.1346del (p.Phe449SerfsTer?) c.1397del (p.Phe466SerfsTer?) c.*855del (n.*855del) c.1374del (n.1374del) c.1268del (p.Phe423SerfsTer?) c.*111del (n.*111del) c.1274del (p.Phe425SerfsTer?) c.1250del (p.Phe417SerfsTer?) c.1316del (p.Phe439SerfsTer?) c.833del (p.Phe278SerfsTer?) c.857del (p.Phe286SerfsTer?) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.162153213T>A | CA362183610 | GABRG2 | c.1274T>A c.1369T>A (p.Phe457Ile) c.1332T>A n.527T>A c.964T>A (p.Phe322Ile) c.988T>A (p.Phe330Ile) c.*3870T>A (n.*3870T>A) c.1150T>A c.640T>A (p.Phe214Ile) c.1249T>A (p.Phe417Ile) c.1273T>A (p.Phe425Ile) c.1936T>A (n.1936T>A) c.*1454T>A (n.*1454T>A) c.*473T>A (n.*473T>A) c.1207T>A (p.Phe403Ile) c.1183T>A (p.Phe395Ile) n.547T>A n.6220T>A c.711T>A c.1186T>A (p.Phe396Ile) c.1342T>A (p.Phe448Ile) c.1393T>A (p.Phe465Ile) c.*851T>A (n.*851T>A) c.1370T>A (n.1370T>A) c.1264T>A (p.Phe422Ile) c.*107T>A (n.*107T>A) c.1270T>A (p.Phe424Ile) c.1246T>A (p.Phe416Ile) c.1312T>A (p.Phe438Ile) c.829T>A (p.Phe277Ile) c.853T>A (p.Phe285Ile) | |
5 | g.162153213T>C | CA362183611 | GABRG2 | c.1274T>C c.1369T>C (p.Phe457Leu) c.1332T>C n.527T>C c.964T>C (p.Phe322Leu) c.988T>C (p.Phe330Leu) c.*3870T>C (n.*3870T>C) c.1150T>C c.640T>C (p.Phe214Leu) c.1249T>C (p.Phe417Leu) c.1273T>C (p.Phe425Leu) c.1936T>C (n.1936T>C) c.*1454T>C (n.*1454T>C) c.*473T>C (n.*473T>C) c.1207T>C (p.Phe403Leu) c.1183T>C (p.Phe395Leu) n.547T>C n.6220T>C c.711T>C c.1186T>C (p.Phe396Leu) c.1342T>C (p.Phe448Leu) c.1393T>C (p.Phe465Leu) c.*851T>C (n.*851T>C) c.1370T>C (n.1370T>C) c.1264T>C (p.Phe422Leu) c.*107T>C (n.*107T>C) c.1270T>C (p.Phe424Leu) c.1246T>C (p.Phe416Leu) c.1312T>C (p.Phe438Leu) c.829T>C (p.Phe277Leu) c.853T>C (p.Phe285Leu) | |
5 | g.162153213T>G | CA3544985 | GABRG2 | c.1274T>G c.1369T>G (p.Phe457Val) c.1332T>G n.527T>G c.964T>G (p.Phe322Val) c.988T>G (p.Phe330Val) c.*3870T>G (n.*3870T>G) c.1150T>G c.640T>G (p.Phe214Val) c.1249T>G (p.Phe417Val) c.1273T>G (p.Phe425Val) c.1936T>G (n.1936T>G) c.*1454T>G (n.*1454T>G) c.*473T>G (n.*473T>G) c.1207T>G (p.Phe403Val) c.1183T>G (p.Phe395Val) n.547T>G n.6220T>G c.711T>G c.1186T>G (p.Phe396Val) c.1342T>G (p.Phe448Val) c.1393T>G (p.Phe465Val) c.*851T>G (n.*851T>G) c.1370T>G (n.1370T>G) c.1264T>G (p.Phe422Val) c.*107T>G (n.*107T>G) c.1270T>G (p.Phe424Val) c.1246T>G (p.Phe416Val) c.1312T>G (p.Phe438Val) c.829T>G (p.Phe277Val) c.853T>G (p.Phe285Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.162153213T= | CA1596382096 | GABRG2 | c.1274T= c.1369T= (p.Phe457=) c.1332T= n.527T= c.964T= (p.Phe322=) c.988T= (p.Phe330=) c.*3870T= (n.*3870T=) c.1150T= c.640T= (p.Phe214=) c.1249T= (p.Phe417=) c.1273T= (p.Phe425=) c.1936T= (n.1936T=) c.*1454T= (n.*1454T=) c.*473T= (n.*473T=) c.1207T= (p.Phe403=) c.1183T= (p.Phe395=) n.547T= n.6220T= c.711T= c.1186T= (p.Phe396=) c.1342T= (p.Phe448=) c.1393T= (p.Phe465=) c.*851T= (n.*851T=) c.1370T= (n.1370T=) c.1264T= (p.Phe422=) c.*107T= (n.*107T=) c.1270T= (p.Phe424=) c.1246T= (p.Phe416=) c.1312T= (p.Phe438=) c.829T= (p.Phe277=) c.853T= (p.Phe285=) | |
5 | g.162153214T>A | CA362183612 | GABRG2 | c.1275T>A c.1370T>A (p.Phe457Tyr) c.1333T>A n.528T>A c.965T>A (p.Phe322Tyr) c.989T>A (p.Phe330Tyr) c.*3871T>A (n.*3871T>A) c.1151T>A c.641T>A (p.Phe214Tyr) c.1250T>A (p.Phe417Tyr) c.1274T>A (p.Phe425Tyr) c.1937T>A (n.1937T>A) c.*1455T>A (n.*1455T>A) c.*474T>A (n.*474T>A) c.1208T>A (p.Phe403Tyr) c.1184T>A (p.Phe395Tyr) n.548T>A n.6221T>A c.712T>A c.1187T>A (p.Phe396Tyr) c.1343T>A (p.Phe448Tyr) c.1394T>A (p.Phe465Tyr) c.*852T>A (n.*852T>A) c.1371T>A (n.1371T>A) c.1265T>A (p.Phe422Tyr) c.*108T>A (n.*108T>A) c.1271T>A (p.Phe424Tyr) c.1247T>A (p.Phe416Tyr) c.1313T>A (p.Phe438Tyr) c.830T>A (p.Phe277Tyr) c.854T>A (p.Phe285Tyr) | |
5 | g.162153214T>C | CA362183613 | GABRG2 | c.1275T>C c.1370T>C (p.Phe457Ser) c.1333T>C n.528T>C c.965T>C (p.Phe322Ser) c.989T>C (p.Phe330Ser) c.*3871T>C (n.*3871T>C) c.1151T>C c.641T>C (p.Phe214Ser) c.1250T>C (p.Phe417Ser) c.1274T>C (p.Phe425Ser) c.1937T>C (n.1937T>C) c.*1455T>C (n.*1455T>C) c.*474T>C (n.*474T>C) c.1208T>C (p.Phe403Ser) c.1184T>C (p.Phe395Ser) n.548T>C n.6221T>C c.712T>C c.1187T>C (p.Phe396Ser) c.1343T>C (p.Phe448Ser) c.1394T>C (p.Phe465Ser) c.*852T>C (n.*852T>C) c.1371T>C (n.1371T>C) c.1265T>C (p.Phe422Ser) c.*108T>C (n.*108T>C) c.1271T>C (p.Phe424Ser) c.1247T>C (p.Phe416Ser) c.1313T>C (p.Phe438Ser) c.830T>C (p.Phe277Ser) c.854T>C (p.Phe285Ser) | |
5 | g.162153214T>G | CA362183614 | GABRG2 | c.1275T>G c.1370T>G (p.Phe457Cys) c.1333T>G n.528T>G c.965T>G (p.Phe322Cys) c.989T>G (p.Phe330Cys) c.*3871T>G (n.*3871T>G) c.1151T>G c.641T>G (p.Phe214Cys) c.1250T>G (p.Phe417Cys) c.1274T>G (p.Phe425Cys) c.1937T>G (n.1937T>G) c.*1455T>G (n.*1455T>G) c.*474T>G (n.*474T>G) c.1208T>G (p.Phe403Cys) c.1184T>G (p.Phe395Cys) n.548T>G n.6221T>G c.712T>G c.1187T>G (p.Phe396Cys) c.1343T>G (p.Phe448Cys) c.1394T>G (p.Phe465Cys) c.*852T>G (n.*852T>G) c.1371T>G (n.1371T>G) c.1265T>G (p.Phe422Cys) c.*108T>G (n.*108T>G) c.1271T>G (p.Phe424Cys) c.1247T>G (p.Phe416Cys) c.1313T>G (p.Phe438Cys) c.830T>G (p.Phe277Cys) c.854T>G (p.Phe285Cys) | |
5 | g.162153215T>A | CA362183615 | GABRG2 | c.1276T>A c.1371T>A (p.Phe457Leu) c.1334T>A n.529T>A c.966T>A (p.Phe322Leu) c.990T>A (p.Phe330Leu) c.*3872T>A (n.*3872T>A) c.1152T>A c.642T>A (p.Phe214Leu) c.1251T>A (p.Phe417Leu) c.1275T>A (p.Phe425Leu) c.1938T>A (n.1938T>A) c.*1456T>A (n.*1456T>A) c.*475T>A (n.*475T>A) c.1209T>A (p.Phe403Leu) c.1185T>A (p.Phe395Leu) n.549T>A n.6222T>A c.713T>A c.1188T>A (p.Phe396Leu) c.1344T>A (p.Phe448Leu) c.1395T>A (p.Phe465Leu) c.*853T>A (n.*853T>A) c.1372T>A (n.1372T>A) c.1266T>A (p.Phe422Leu) c.*109T>A (n.*109T>A) c.1272T>A (p.Phe424Leu) c.1248T>A (p.Phe416Leu) c.1314T>A (p.Phe438Leu) c.831T>A (p.Phe277Leu) c.855T>A (p.Phe285Leu) | |
5 | g.162153215T>C | CA3544986 | GABRG2 | c.1276T>C c.1371T>C (p.Phe457=) c.1334T>C n.529T>C c.966T>C (p.Phe322=) c.990T>C (p.Phe330=) c.*3872T>C (n.*3872T>C) c.1152T>C c.642T>C (p.Phe214=) c.1251T>C (p.Phe417=) c.1275T>C (p.Phe425=) c.1938T>C (n.1938T>C) c.*1456T>C (n.*1456T>C) c.*475T>C (n.*475T>C) c.1209T>C (p.Phe403=) c.1185T>C (p.Phe395=) n.549T>C n.6222T>C c.713T>C c.1188T>C (p.Phe396=) c.1344T>C (p.Phe448=) c.1395T>C (p.Phe465=) c.*853T>C (n.*853T>C) c.1372T>C (n.1372T>C) c.1266T>C (p.Phe422=) c.*109T>C (n.*109T>C) c.1272T>C (p.Phe424=) c.1248T>C (p.Phe416=) c.1314T>C (p.Phe438=) c.831T>C (p.Phe277=) c.855T>C (p.Phe285=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.162153215T>G | CA362183616 | GABRG2 | c.1276T>G c.1371T>G (p.Phe457Leu) c.1334T>G n.529T>G c.966T>G (p.Phe322Leu) c.990T>G (p.Phe330Leu) c.*3872T>G (n.*3872T>G) c.1152T>G c.642T>G (p.Phe214Leu) c.1251T>G (p.Phe417Leu) c.1275T>G (p.Phe425Leu) c.1938T>G (n.1938T>G) c.*1456T>G (n.*1456T>G) c.*475T>G (n.*475T>G) c.1209T>G (p.Phe403Leu) c.1185T>G (p.Phe395Leu) n.549T>G n.6222T>G c.713T>G c.1188T>G (p.Phe396Leu) c.1344T>G (p.Phe448Leu) c.1395T>G (p.Phe465Leu) c.*853T>G (n.*853T>G) c.1372T>G (n.1372T>G) c.1266T>G (p.Phe422Leu) c.*109T>G (n.*109T>G) c.1272T>G (p.Phe424Leu) c.1248T>G (p.Phe416Leu) c.1314T>G (p.Phe438Leu) c.831T>G (p.Phe277Leu) c.855T>G (p.Phe285Leu) | |
5 | g.162153215T= | CA1596382099 | GABRG2 | c.1276T= c.1371T= (p.Phe457=) c.1334T= n.529T= c.966T= (p.Phe322=) c.990T= (p.Phe330=) c.*3872T= (n.*3872T=) c.1152T= c.642T= (p.Phe214=) c.1251T= (p.Phe417=) c.1275T= (p.Phe425=) c.1938T= (n.1938T=) c.*1456T= (n.*1456T=) c.*475T= (n.*475T=) c.1209T= (p.Phe403=) c.1185T= (p.Phe395=) n.549T= n.6222T= c.713T= c.1188T= (p.Phe396=) c.1344T= (p.Phe448=) c.1395T= (p.Phe465=) c.*853T= (n.*853T=) c.1372T= (n.1372T=) c.1266T= (p.Phe422=) c.*109T= (n.*109T=) c.1272T= (p.Phe424=) c.1248T= (p.Phe416=) c.1314T= (p.Phe438=) c.831T= (p.Phe277=) c.855T= (p.Phe285=) | |
5 | g.162153216T>A | CA362183617 | GABRG2 | c.1277T>A c.1372T>A (p.Phe458Ile) c.1335T>A n.530T>A c.967T>A (p.Phe323Ile) c.991T>A (p.Phe331Ile) c.*3873T>A (n.*3873T>A) c.1153T>A c.643T>A (p.Phe215Ile) c.1252T>A (p.Phe418Ile) c.1276T>A (p.Phe426Ile) c.1939T>A (n.1939T>A) c.*1457T>A (n.*1457T>A) c.*476T>A (n.*476T>A) c.1210T>A (p.Phe404Ile) c.1186T>A (p.Phe396Ile) n.550T>A n.6223T>A c.714T>A c.1189T>A (p.Phe397Ile) c.1345T>A (p.Phe449Ile) c.1396T>A (p.Phe466Ile) c.*854T>A (n.*854T>A) c.1373T>A (n.1373T>A) c.1267T>A (p.Phe423Ile) c.*110T>A (n.*110T>A) c.1273T>A (p.Phe425Ile) c.1249T>A (p.Phe417Ile) c.1315T>A (p.Phe439Ile) c.832T>A (p.Phe278Ile) c.856T>A (p.Phe286Ile) | |
5 | g.162153216T>C | CA362183618 | GABRG2 | c.1277T>C c.1372T>C (p.Phe458Leu) c.1335T>C n.530T>C c.967T>C (p.Phe323Leu) c.991T>C (p.Phe331Leu) c.*3873T>C (n.*3873T>C) c.1153T>C c.643T>C (p.Phe215Leu) c.1252T>C (p.Phe418Leu) c.1276T>C (p.Phe426Leu) c.1939T>C (n.1939T>C) c.*1457T>C (n.*1457T>C) c.*476T>C (n.*476T>C) c.1210T>C (p.Phe404Leu) c.1186T>C (p.Phe396Leu) n.550T>C n.6223T>C c.714T>C c.1189T>C (p.Phe397Leu) c.1345T>C (p.Phe449Leu) c.1396T>C (p.Phe466Leu) c.*854T>C (n.*854T>C) c.1373T>C (n.1373T>C) c.1267T>C (p.Phe423Leu) c.*110T>C (n.*110T>C) c.1273T>C (p.Phe425Leu) c.1249T>C (p.Phe417Leu) c.1315T>C (p.Phe439Leu) c.832T>C (p.Phe278Leu) c.856T>C (p.Phe286Leu) | |
5 | g.162153216T>G | CA362183619 | GABRG2 | c.1277T>G c.1372T>G (p.Phe458Val) c.1335T>G n.530T>G c.967T>G (p.Phe323Val) c.991T>G (p.Phe331Val) c.*3873T>G (n.*3873T>G) c.1153T>G c.643T>G (p.Phe215Val) c.1252T>G (p.Phe418Val) c.1276T>G (p.Phe426Val) c.1939T>G (n.1939T>G) c.*1457T>G (n.*1457T>G) c.*476T>G (n.*476T>G) c.1210T>G (p.Phe404Val) c.1186T>G (p.Phe396Val) n.550T>G n.6223T>G c.714T>G c.1189T>G (p.Phe397Val) c.1345T>G (p.Phe449Val) c.1396T>G (p.Phe466Val) c.*854T>G (n.*854T>G) c.1373T>G (n.1373T>G) c.1267T>G (p.Phe423Val) c.*110T>G (n.*110T>G) c.1273T>G (p.Phe425Val) c.1249T>G (p.Phe417Val) c.1315T>G (p.Phe439Val) c.832T>G (p.Phe278Val) c.856T>G (p.Phe286Val) | |
5 | g.162153217T>A | CA362183620 | GABRG2 | c.1278T>A c.1373T>A (p.Phe458Tyr) c.1336T>A n.531T>A c.968T>A (p.Phe323Tyr) c.992T>A (p.Phe331Tyr) c.*3874T>A (n.*3874T>A) c.1154T>A c.644T>A (p.Phe215Tyr) c.1253T>A (p.Phe418Tyr) c.1277T>A (p.Phe426Tyr) c.1940T>A (n.1940T>A) c.*1458T>A (n.*1458T>A) c.*477T>A (n.*477T>A) c.1211T>A (p.Phe404Tyr) c.1187T>A (p.Phe396Tyr) n.551T>A n.6224T>A c.715T>A c.1190T>A (p.Phe397Tyr) c.1346T>A (p.Phe449Tyr) c.1397T>A (p.Phe466Tyr) c.*855T>A (n.*855T>A) c.1374T>A (n.1374T>A) c.1268T>A (p.Phe423Tyr) c.*111T>A (n.*111T>A) c.1274T>A (p.Phe425Tyr) c.1250T>A (p.Phe417Tyr) c.1316T>A (p.Phe439Tyr) c.833T>A (p.Phe278Tyr) c.857T>A (p.Phe286Tyr) | |
5 | g.162153217T>C | CA362183621 | GABRG2 | c.1278T>C c.1373T>C (p.Phe458Ser) c.1336T>C n.531T>C c.968T>C (p.Phe323Ser) c.992T>C (p.Phe331Ser) c.*3874T>C (n.*3874T>C) c.1154T>C c.644T>C (p.Phe215Ser) c.1253T>C (p.Phe418Ser) c.1277T>C (p.Phe426Ser) c.1940T>C (n.1940T>C) c.*1458T>C (n.*1458T>C) c.*477T>C (n.*477T>C) c.1211T>C (p.Phe404Ser) c.1187T>C (p.Phe396Ser) n.551T>C n.6224T>C c.715T>C c.1190T>C (p.Phe397Ser) c.1346T>C (p.Phe449Ser) c.1397T>C (p.Phe466Ser) c.*855T>C (n.*855T>C) c.1374T>C (n.1374T>C) c.1268T>C (p.Phe423Ser) c.*111T>C (n.*111T>C) c.1274T>C (p.Phe425Ser) c.1250T>C (p.Phe417Ser) c.1316T>C (p.Phe439Ser) c.833T>C (p.Phe278Ser) c.857T>C (p.Phe286Ser) | ClinVar dbSNP |
5 | g.162153217T>G | CA362183622 | GABRG2 | c.1278T>G c.1373T>G (p.Phe458Cys) c.1336T>G n.531T>G c.968T>G (p.Phe323Cys) c.992T>G (p.Phe331Cys) c.*3874T>G (n.*3874T>G) c.1154T>G c.644T>G (p.Phe215Cys) c.1253T>G (p.Phe418Cys) c.1277T>G (p.Phe426Cys) c.1940T>G (n.1940T>G) c.*1458T>G (n.*1458T>G) c.*477T>G (n.*477T>G) c.1211T>G (p.Phe404Cys) c.1187T>G (p.Phe396Cys) n.551T>G n.6224T>G c.715T>G c.1190T>G (p.Phe397Cys) c.1346T>G (p.Phe449Cys) c.1397T>G (p.Phe466Cys) c.*855T>G (n.*855T>G) c.1374T>G (n.1374T>G) c.1268T>G (p.Phe423Cys) c.*111T>G (n.*111T>G) c.1274T>G (p.Phe425Cys) c.1250T>G (p.Phe417Cys) c.1316T>G (p.Phe439Cys) c.833T>G (p.Phe278Cys) c.857T>G (p.Phe286Cys) | |
5 | g.162153218C>A | CA362183623 | GABRG2 | c.1279C>A c.1374C>A (p.Phe458Leu) c.1337C>A n.532C>A c.969C>A (p.Phe323Leu) c.993C>A (p.Phe331Leu) c.*3875C>A (n.*3875C>A) c.1155C>A c.645C>A (p.Phe215Leu) c.1254C>A (p.Phe418Leu) c.1278C>A (p.Phe426Leu) c.1941C>A (n.1941C>A) c.*1459C>A (n.*1459C>A) c.*478C>A (n.*478C>A) c.1212C>A (p.Phe404Leu) c.1188C>A (p.Phe396Leu) n.552C>A n.6225C>A c.716C>A c.1191C>A (p.Phe397Leu) c.1347C>A (p.Phe449Leu) c.1398C>A (p.Phe466Leu) c.*856C>A (n.*856C>A) c.1375C>A (n.1375C>A) c.1269C>A (p.Phe423Leu) c.*112C>A (n.*112C>A) c.1275C>A (p.Phe425Leu) c.1251C>A (p.Phe417Leu) c.1317C>A (p.Phe439Leu) c.834C>A (p.Phe278Leu) c.858C>A (p.Phe286Leu) | |
5 | g.162153218C>G | CA362183624 | GABRG2 | c.1279C>G c.1374C>G (p.Phe458Leu) c.1337C>G n.532C>G c.969C>G (p.Phe323Leu) c.993C>G (p.Phe331Leu) c.*3875C>G (n.*3875C>G) c.1155C>G c.645C>G (p.Phe215Leu) c.1254C>G (p.Phe418Leu) c.1278C>G (p.Phe426Leu) c.1941C>G (n.1941C>G) c.*1459C>G (n.*1459C>G) c.*478C>G (n.*478C>G) c.1212C>G (p.Phe404Leu) c.1188C>G (p.Phe396Leu) n.552C>G n.6225C>G c.716C>G c.1191C>G (p.Phe397Leu) c.1347C>G (p.Phe449Leu) c.1398C>G (p.Phe466Leu) c.*856C>G (n.*856C>G) c.1375C>G (n.1375C>G) c.1269C>G (p.Phe423Leu) c.*112C>G (n.*112C>G) c.1275C>G (p.Phe425Leu) c.1251C>G (p.Phe417Leu) c.1317C>G (p.Phe439Leu) c.834C>G (p.Phe278Leu) c.858C>G (p.Phe286Leu) | |
5 | g.162153218C>T | CA447691809 | GABRG2 | c.1279C>T c.1374C>T (p.Phe458=) c.1337C>T n.532C>T c.969C>T (p.Phe323=) c.993C>T (p.Phe331=) c.*3875C>T (n.*3875C>T) c.1155C>T c.645C>T (p.Phe215=) c.1254C>T (p.Phe418=) c.1278C>T (p.Phe426=) c.1941C>T (n.1941C>T) c.*1459C>T (n.*1459C>T) c.*478C>T (n.*478C>T) c.1212C>T (p.Phe404=) c.1188C>T (p.Phe396=) n.552C>T n.6225C>T c.716C>T c.1191C>T (p.Phe397=) c.1347C>T (p.Phe449=) c.1398C>T (p.Phe466=) c.*856C>T (n.*856C>T) c.1375C>T (n.1375C>T) c.1269C>T (p.Phe423=) c.*112C>T (n.*112C>T) c.1275C>T (p.Phe425=) c.1251C>T (p.Phe417=) c.1317C>T (p.Phe439=) c.834C>T (p.Phe278=) c.858C>T (p.Phe286=) | |
5 | g.162153219T>A | CA362183625 | GABRG2 | c.1280T>A c.1375T>A (p.Cys459Ser) c.1338T>A n.533T>A c.970T>A (p.Cys324Ser) c.994T>A (p.Cys332Ser) c.*3876T>A (n.*3876T>A) c.1156T>A c.646T>A (p.Cys216Ser) c.1255T>A (p.Cys419Ser) c.1279T>A (p.Cys427Ser) c.1942T>A (n.1942T>A) c.*1460T>A (n.*1460T>A) c.*479T>A (n.*479T>A) c.1213T>A (p.Cys405Ser) c.1189T>A (p.Cys397Ser) n.553T>A n.6226T>A c.717T>A c.1192T>A (p.Cys398Ser) c.1348T>A (p.Cys450Ser) c.1399T>A (p.Cys467Ser) c.*857T>A (n.*857T>A) c.1376T>A (n.1376T>A) c.1270T>A (p.Cys424Ser) c.*113T>A (n.*113T>A) c.1276T>A (p.Cys426Ser) c.1252T>A (p.Cys418Ser) c.1318T>A (p.Cys440Ser) c.835T>A (p.Cys279Ser) c.859T>A (p.Cys287Ser) | |
5 | g.162153219T>C | CA362183627 | GABRG2 | c.1280T>C c.1375T>C (p.Cys459Arg) c.1338T>C n.533T>C c.970T>C (p.Cys324Arg) c.994T>C (p.Cys332Arg) c.*3876T>C (n.*3876T>C) c.1156T>C c.646T>C (p.Cys216Arg) c.1255T>C (p.Cys419Arg) c.1279T>C (p.Cys427Arg) c.1942T>C (n.1942T>C) c.*1460T>C (n.*1460T>C) c.*479T>C (n.*479T>C) c.1213T>C (p.Cys405Arg) c.1189T>C (p.Cys397Arg) n.553T>C n.6226T>C c.717T>C c.1192T>C (p.Cys398Arg) c.1348T>C (p.Cys450Arg) c.1399T>C (p.Cys467Arg) c.*857T>C (n.*857T>C) c.1376T>C (n.1376T>C) c.1270T>C (p.Cys424Arg) c.*113T>C (n.*113T>C) c.1276T>C (p.Cys426Arg) c.1252T>C (p.Cys418Arg) c.1318T>C (p.Cys440Arg) c.835T>C (p.Cys279Arg) c.859T>C (p.Cys287Arg) | ClinVar dbSNP |
5 | g.162153219T>G | CA362183626 | GABRG2 | c.1280T>G c.1375T>G (p.Cys459Gly) c.1338T>G n.533T>G c.970T>G (p.Cys324Gly) c.994T>G (p.Cys332Gly) c.*3876T>G (n.*3876T>G) c.1156T>G c.646T>G (p.Cys216Gly) c.1255T>G (p.Cys419Gly) c.1279T>G (p.Cys427Gly) c.1942T>G (n.1942T>G) c.*1460T>G (n.*1460T>G) c.*479T>G (n.*479T>G) c.1213T>G (p.Cys405Gly) c.1189T>G (p.Cys397Gly) n.553T>G n.6226T>G c.717T>G c.1192T>G (p.Cys398Gly) c.1348T>G (p.Cys450Gly) c.1399T>G (p.Cys467Gly) c.*857T>G (n.*857T>G) c.1376T>G (n.1376T>G) c.1270T>G (p.Cys424Gly) c.*113T>G (n.*113T>G) c.1276T>G (p.Cys426Gly) c.1252T>G (p.Cys418Gly) c.1318T>G (p.Cys440Gly) c.835T>G (p.Cys279Gly) c.859T>G (p.Cys287Gly) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.162153219T= | CA1596382104 | GABRG2 | c.1280T= c.1375T= (p.Cys459=) c.1338T= n.533T= c.970T= (p.Cys324=) c.994T= (p.Cys332=) c.*3876T= (n.*3876T=) c.1156T= c.646T= (p.Cys216=) c.1255T= (p.Cys419=) c.1279T= (p.Cys427=) c.1942T= (n.1942T=) c.*1460T= (n.*1460T=) c.*479T= (n.*479T=) c.1213T= (p.Cys405=) c.1189T= (p.Cys397=) n.553T= n.6226T= c.717T= c.1192T= (p.Cys398=) c.1348T= (p.Cys450=) c.1399T= (p.Cys467=) c.*857T= (n.*857T=) c.1376T= (n.1376T=) c.1270T= (p.Cys424=) c.*113T= (n.*113T=) c.1276T= (p.Cys426=) c.1252T= (p.Cys418=) c.1318T= (p.Cys440=) c.835T= (p.Cys279=) c.859T= (p.Cys287=) | |
5 | g.162153220G>A | CA362183628 | GABRG2 | c.1281G>A c.1376G>A (p.Cys459Tyr) c.1339G>A n.534G>A c.971G>A (p.Cys324Tyr) c.995G>A (p.Cys332Tyr) c.*3877G>A (n.*3877G>A) c.1157G>A c.647G>A (p.Cys216Tyr) c.1256G>A (p.Cys419Tyr) c.1280G>A (p.Cys427Tyr) c.1943G>A (n.1943G>A) c.*1461G>A (n.*1461G>A) c.*480G>A (n.*480G>A) c.1214G>A (p.Cys405Tyr) c.1190G>A (p.Cys397Tyr) n.554G>A n.6227G>A c.718G>A c.1193G>A (p.Cys398Tyr) c.1349G>A (p.Cys450Tyr) c.1400G>A (p.Cys467Tyr) c.*858G>A (n.*858G>A) c.1377G>A (n.1377G>A) c.1271G>A (p.Cys424Tyr) c.*114G>A (n.*114G>A) c.1277G>A (p.Cys426Tyr) c.1253G>A (p.Cys418Tyr) c.1319G>A (p.Cys440Tyr) c.836G>A (p.Cys279Tyr) c.860G>A (p.Cys287Tyr) | |
5 | g.162153220G>C | CA362183629 | GABRG2 | c.1281G>C c.1376G>C (p.Cys459Ser) c.1339G>C n.534G>C c.971G>C (p.Cys324Ser) c.995G>C (p.Cys332Ser) c.*3877G>C (n.*3877G>C) c.1157G>C c.647G>C (p.Cys216Ser) c.1256G>C (p.Cys419Ser) c.1280G>C (p.Cys427Ser) c.1943G>C (n.1943G>C) c.*1461G>C (n.*1461G>C) c.*480G>C (n.*480G>C) c.1214G>C (p.Cys405Ser) c.1190G>C (p.Cys397Ser) n.554G>C n.6227G>C c.718G>C c.1193G>C (p.Cys398Ser) c.1349G>C (p.Cys450Ser) c.1400G>C (p.Cys467Ser) c.*858G>C (n.*858G>C) c.1377G>C (n.1377G>C) c.1271G>C (p.Cys424Ser) c.*114G>C (n.*114G>C) c.1277G>C (p.Cys426Ser) c.1253G>C (p.Cys418Ser) c.1319G>C (p.Cys440Ser) c.836G>C (p.Cys279Ser) c.860G>C (p.Cys287Ser) | |
5 | g.162153220G>T | CA362183630 | GABRG2 | c.1281G>T c.1376G>T (p.Cys459Phe) c.1339G>T n.534G>T c.971G>T (p.Cys324Phe) c.995G>T (p.Cys332Phe) c.*3877G>T (n.*3877G>T) c.1157G>T c.647G>T (p.Cys216Phe) c.1256G>T (p.Cys419Phe) c.1280G>T (p.Cys427Phe) c.1943G>T (n.1943G>T) c.*1461G>T (n.*1461G>T) c.*480G>T (n.*480G>T) c.1214G>T (p.Cys405Phe) c.1190G>T (p.Cys397Phe) n.554G>T n.6227G>T c.718G>T c.1193G>T (p.Cys398Phe) c.1349G>T (p.Cys450Phe) c.1400G>T (p.Cys467Phe) c.*858G>T (n.*858G>T) c.1377G>T (n.1377G>T) c.1271G>T (p.Cys424Phe) c.*114G>T (n.*114G>T) c.1277G>T (p.Cys426Phe) c.1253G>T (p.Cys418Phe) c.1319G>T (p.Cys440Phe) c.836G>T (p.Cys279Phe) c.860G>T (p.Cys287Phe) | |
5 | g.162153221C>A | CA362183631 | GABRG2 | c.1282C>A c.1377C>A (p.Cys459Ter) c.1340C>A n.535C>A c.972C>A (p.Cys324Ter) c.996C>A (p.Cys332Ter) c.*3878C>A (n.*3878C>A) c.1158C>A c.648C>A (p.Cys216Ter) c.1257C>A (p.Cys419Ter) c.1281C>A (p.Cys427Ter) c.1944C>A (n.1944C>A) c.*1462C>A (n.*1462C>A) c.*481C>A (n.*481C>A) c.1215C>A (p.Cys405Ter) c.1191C>A (p.Cys397Ter) n.555C>A n.6228C>A c.719C>A c.1194C>A (p.Cys398Ter) c.1350C>A (p.Cys450Ter) c.1401C>A (p.Cys467Ter) c.*859C>A (n.*859C>A) c.1378C>A (n.1378C>A) c.1272C>A (p.Cys424Ter) c.*115C>A (n.*115C>A) c.1278C>A (p.Cys426Ter) c.1254C>A (p.Cys418Ter) c.1320C>A (p.Cys440Ter) c.837C>A (p.Cys279Ter) c.861C>A (p.Cys287Ter) | |
5 | g.162153221C>G | CA362183632 | GABRG2 | c.1282C>G c.1377C>G (p.Cys459Trp) c.1340C>G n.535C>G c.972C>G (p.Cys324Trp) c.996C>G (p.Cys332Trp) c.*3878C>G (n.*3878C>G) c.1158C>G c.648C>G (p.Cys216Trp) c.1257C>G (p.Cys419Trp) c.1281C>G (p.Cys427Trp) c.1944C>G (n.1944C>G) c.*1462C>G (n.*1462C>G) c.*481C>G (n.*481C>G) c.1215C>G (p.Cys405Trp) c.1191C>G (p.Cys397Trp) n.555C>G n.6228C>G c.719C>G c.1194C>G (p.Cys398Trp) c.1350C>G (p.Cys450Trp) c.1401C>G (p.Cys467Trp) c.*859C>G (n.*859C>G) c.1378C>G (n.1378C>G) c.1272C>G (p.Cys424Trp) c.*115C>G (n.*115C>G) c.1278C>G (p.Cys426Trp) c.1254C>G (p.Cys418Trp) c.1320C>G (p.Cys440Trp) c.837C>G (p.Cys279Trp) c.861C>G (p.Cys287Trp) | |
5 | g.162153221C>T | CA447691814 | GABRG2 | c.1282C>T c.1377C>T (p.Cys459=) c.1340C>T n.535C>T c.972C>T (p.Cys324=) c.996C>T (p.Cys332=) c.*3878C>T (n.*3878C>T) c.1158C>T c.648C>T (p.Cys216=) c.1257C>T (p.Cys419=) c.1281C>T (p.Cys427=) c.1944C>T (n.1944C>T) c.*1462C>T (n.*1462C>T) c.*481C>T (n.*481C>T) c.1215C>T (p.Cys405=) c.1191C>T (p.Cys397=) n.555C>T n.6228C>T c.719C>T c.1194C>T (p.Cys398=) c.1350C>T (p.Cys450=) c.1401C>T (p.Cys467=) c.*859C>T (n.*859C>T) c.1378C>T (n.1378C>T) c.1272C>T (p.Cys424=) c.*115C>T (n.*115C>T) c.1278C>T (p.Cys426=) c.1254C>T (p.Cys418=) c.1320C>T (p.Cys440=) c.837C>T (p.Cys279=) c.861C>T (p.Cys287=) | COSMIC |
5 | g.162153222T>A | CA362183633 | GABRG2 | c.1283T>A c.1378T>A (p.Cys460Ser) c.1341T>A n.536T>A c.973T>A (p.Cys325Ser) c.997T>A (p.Cys333Ser) c.*3879T>A (n.*3879T>A) c.1159T>A c.649T>A (p.Cys217Ser) c.1258T>A (p.Cys420Ser) c.1282T>A (p.Cys428Ser) c.1945T>A (n.1945T>A) c.*1463T>A (n.*1463T>A) c.*482T>A (n.*482T>A) c.1216T>A (p.Cys406Ser) c.1192T>A (p.Cys398Ser) n.556T>A n.6229T>A c.720T>A c.1195T>A (p.Cys399Ser) c.1351T>A (p.Cys451Ser) c.1402T>A (p.Cys468Ser) c.*860T>A (n.*860T>A) c.1379T>A (n.1379T>A) c.1273T>A (p.Cys425Ser) c.*116T>A (n.*116T>A) c.1279T>A (p.Cys427Ser) c.1255T>A (p.Cys419Ser) c.1321T>A (p.Cys441Ser) c.838T>A (p.Cys280Ser) c.862T>A (p.Cys288Ser) | |
5 | g.162153222T>C | CA362183634 | GABRG2 | c.1283T>C c.1378T>C (p.Cys460Arg) c.1341T>C n.536T>C c.973T>C (p.Cys325Arg) c.997T>C (p.Cys333Arg) c.*3879T>C (n.*3879T>C) c.1159T>C c.649T>C (p.Cys217Arg) c.1258T>C (p.Cys420Arg) c.1282T>C (p.Cys428Arg) c.1945T>C (n.1945T>C) c.*1463T>C (n.*1463T>C) c.*482T>C (n.*482T>C) c.1216T>C (p.Cys406Arg) c.1192T>C (p.Cys398Arg) n.556T>C n.6229T>C c.720T>C c.1195T>C (p.Cys399Arg) c.1351T>C (p.Cys451Arg) c.1402T>C (p.Cys468Arg) c.*860T>C (n.*860T>C) c.1379T>C (n.1379T>C) c.1273T>C (p.Cys425Arg) c.*116T>C (n.*116T>C) c.1279T>C (p.Cys427Arg) c.1255T>C (p.Cys419Arg) c.1321T>C (p.Cys441Arg) c.838T>C (p.Cys280Arg) c.862T>C (p.Cys288Arg) | ClinVar |
5 | g.162153222T>G | CA362183635 | GABRG2 | c.1283T>G c.1378T>G (p.Cys460Gly) c.1341T>G n.536T>G c.973T>G (p.Cys325Gly) c.997T>G (p.Cys333Gly) c.*3879T>G (n.*3879T>G) c.1159T>G c.649T>G (p.Cys217Gly) c.1258T>G (p.Cys420Gly) c.1282T>G (p.Cys428Gly) c.1945T>G (n.1945T>G) c.*1463T>G (n.*1463T>G) c.*482T>G (n.*482T>G) c.1216T>G (p.Cys406Gly) c.1192T>G (p.Cys398Gly) n.556T>G n.6229T>G c.720T>G c.1195T>G (p.Cys399Gly) c.1351T>G (p.Cys451Gly) c.1402T>G (p.Cys468Gly) c.*860T>G (n.*860T>G) c.1379T>G (n.1379T>G) c.1273T>G (p.Cys425Gly) c.*116T>G (n.*116T>G) c.1279T>G (p.Cys427Gly) c.1255T>G (p.Cys419Gly) c.1321T>G (p.Cys441Gly) c.838T>G (p.Cys280Gly) c.862T>G (p.Cys288Gly) | |
5 | g.162153223G>A | CA362183636 | GABRG2 | c.1284G>A c.1379G>A (p.Cys460Tyr) c.1342G>A n.537G>A c.974G>A (p.Cys325Tyr) c.998G>A (p.Cys333Tyr) c.*3880G>A (n.*3880G>A) c.1160G>A c.650G>A (p.Cys217Tyr) c.1259G>A (p.Cys420Tyr) c.1283G>A (p.Cys428Tyr) c.1946G>A (n.1946G>A) c.*1464G>A (n.*1464G>A) c.*483G>A (n.*483G>A) c.1217G>A (p.Cys406Tyr) c.1193G>A (p.Cys398Tyr) n.557G>A n.6230G>A c.721G>A c.1196G>A (p.Cys399Tyr) c.1352G>A (p.Cys451Tyr) c.1403G>A (p.Cys468Tyr) c.*861G>A (n.*861G>A) c.1380G>A (n.1380G>A) c.1274G>A (p.Cys425Tyr) c.*117G>A (n.*117G>A) c.1280G>A (p.Cys427Tyr) c.1256G>A (p.Cys419Tyr) c.1322G>A (p.Cys441Tyr) c.839G>A (p.Cys280Tyr) c.863G>A (p.Cys288Tyr) | |
5 | g.162153223G>C | CA362183638 | GABRG2 | c.1284G>C c.1379G>C (p.Cys460Ser) c.1342G>C n.537G>C c.974G>C (p.Cys325Ser) c.998G>C (p.Cys333Ser) c.*3880G>C (n.*3880G>C) c.1160G>C c.650G>C (p.Cys217Ser) c.1259G>C (p.Cys420Ser) c.1283G>C (p.Cys428Ser) c.1946G>C (n.1946G>C) c.*1464G>C (n.*1464G>C) c.*483G>C (n.*483G>C) c.1217G>C (p.Cys406Ser) c.1193G>C (p.Cys398Ser) n.557G>C n.6230G>C c.721G>C c.1196G>C (p.Cys399Ser) c.1352G>C (p.Cys451Ser) c.1403G>C (p.Cys468Ser) c.*861G>C (n.*861G>C) c.1380G>C (n.1380G>C) c.1274G>C (p.Cys425Ser) c.*117G>C (n.*117G>C) c.1280G>C (p.Cys427Ser) c.1256G>C (p.Cys419Ser) c.1322G>C (p.Cys441Ser) c.839G>C (p.Cys280Ser) c.863G>C (p.Cys288Ser) | |
5 | g.162153223G>T | CA362183640 | GABRG2 | c.1284G>T c.1379G>T (p.Cys460Phe) c.1342G>T n.537G>T c.974G>T (p.Cys325Phe) c.998G>T (p.Cys333Phe) c.*3880G>T (n.*3880G>T) c.1160G>T c.650G>T (p.Cys217Phe) c.1259G>T (p.Cys420Phe) c.1283G>T (p.Cys428Phe) c.1946G>T (n.1946G>T) c.*1464G>T (n.*1464G>T) c.*483G>T (n.*483G>T) c.1217G>T (p.Cys406Phe) c.1193G>T (p.Cys398Phe) n.557G>T n.6230G>T c.721G>T c.1196G>T (p.Cys399Phe) c.1352G>T (p.Cys451Phe) c.1403G>T (p.Cys468Phe) c.*861G>T (n.*861G>T) c.1380G>T (n.1380G>T) c.1274G>T (p.Cys425Phe) c.*117G>T (n.*117G>T) c.1280G>T (p.Cys427Phe) c.1256G>T (p.Cys419Phe) c.1322G>T (p.Cys441Phe) c.839G>T (p.Cys280Phe) c.863G>T (p.Cys288Phe) | |
5 | g.162153224T>A | CA362183645 | GABRG2 | c.1285T>A c.1380T>A (p.Cys460Ter) c.1343T>A n.538T>A c.975T>A (p.Cys325Ter) c.999T>A (p.Cys333Ter) c.*3881T>A (n.*3881T>A) c.1161T>A c.651T>A (p.Cys217Ter) c.1260T>A (p.Cys420Ter) c.1284T>A (p.Cys428Ter) c.1947T>A (n.1947T>A) c.*1465T>A (n.*1465T>A) c.*484T>A (n.*484T>A) c.1218T>A (p.Cys406Ter) c.1194T>A (p.Cys398Ter) n.558T>A n.6231T>A c.722T>A c.1197T>A (p.Cys399Ter) c.1353T>A (p.Cys451Ter) c.1404T>A (p.Cys468Ter) c.*862T>A (n.*862T>A) c.1381T>A (n.1381T>A) c.1275T>A (p.Cys425Ter) c.*118T>A (n.*118T>A) c.1281T>A (p.Cys427Ter) c.1257T>A (p.Cys419Ter) c.1323T>A (p.Cys441Ter) c.840T>A (p.Cys280Ter) c.864T>A (p.Cys288Ter) | |
5 | g.162153224T>C | CA3544987 | GABRG2 | c.1285T>C c.1380T>C (p.Cys460=) c.1343T>C n.538T>C c.975T>C (p.Cys325=) c.999T>C (p.Cys333=) c.*3881T>C (n.*3881T>C) c.1161T>C c.651T>C (p.Cys217=) c.1260T>C (p.Cys420=) c.1284T>C (p.Cys428=) c.1947T>C (n.1947T>C) c.*1465T>C (n.*1465T>C) c.*484T>C (n.*484T>C) c.1218T>C (p.Cys406=) c.1194T>C (p.Cys398=) n.558T>C n.6231T>C c.722T>C c.1197T>C (p.Cys399=) c.1353T>C (p.Cys451=) c.1404T>C (p.Cys468=) c.*862T>C (n.*862T>C) c.1381T>C (n.1381T>C) c.1275T>C (p.Cys425=) c.*118T>C (n.*118T>C) c.1281T>C (p.Cys427=) c.1257T>C (p.Cys419=) c.1323T>C (p.Cys441=) c.840T>C (p.Cys280=) c.864T>C (p.Cys288=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.162153224T>G | CA362183643 | GABRG2 | c.1285T>G c.1380T>G (p.Cys460Trp) c.1343T>G n.538T>G c.975T>G (p.Cys325Trp) c.999T>G (p.Cys333Trp) c.*3881T>G (n.*3881T>G) c.1161T>G c.651T>G (p.Cys217Trp) c.1260T>G (p.Cys420Trp) c.1284T>G (p.Cys428Trp) c.1947T>G (n.1947T>G) c.*1465T>G (n.*1465T>G) c.*484T>G (n.*484T>G) c.1218T>G (p.Cys406Trp) c.1194T>G (p.Cys398Trp) n.558T>G n.6231T>G c.722T>G c.1197T>G (p.Cys399Trp) c.1353T>G (p.Cys451Trp) c.1404T>G (p.Cys468Trp) c.*862T>G (n.*862T>G) c.1381T>G (n.1381T>G) c.1275T>G (p.Cys425Trp) c.*118T>G (n.*118T>G) c.1281T>G (p.Cys427Trp) c.1257T>G (p.Cys419Trp) c.1323T>G (p.Cys441Trp) c.840T>G (p.Cys280Trp) c.864T>G (p.Cys288Trp) | |
5 | g.162153224T= | CA1596382109 | GABRG2 | c.1285T= c.1380T= (p.Cys460=) c.1343T= n.538T= c.975T= (p.Cys325=) c.999T= (p.Cys333=) c.*3881T= (n.*3881T=) c.1161T= c.651T= (p.Cys217=) c.1260T= (p.Cys420=) c.1284T= (p.Cys428=) c.1947T= (n.1947T=) c.*1465T= (n.*1465T=) c.*484T= (n.*484T=) c.1218T= (p.Cys406=) c.1194T= (p.Cys398=) n.558T= n.6231T= c.722T= c.1197T= (p.Cys399=) c.1353T= (p.Cys451=) c.1404T= (p.Cys468=) c.*862T= (n.*862T=) c.1381T= (n.1381T=) c.1275T= (p.Cys425=) c.*118T= (n.*118T=) c.1281T= (p.Cys427=) c.1257T= (p.Cys419=) c.1323T= (p.Cys441=) c.840T= (p.Cys280=) c.864T= (p.Cys288=) | |
5 | g.162153225T>A | CA362183647 | GABRG2 | c.1286T>A c.1381T>A (p.Phe461Ile) c.1344T>A n.539T>A c.976T>A (p.Phe326Ile) c.1000T>A (p.Phe334Ile) c.*3882T>A (n.*3882T>A) c.1162T>A c.652T>A (p.Phe218Ile) c.1261T>A (p.Phe421Ile) c.1285T>A (p.Phe429Ile) c.1948T>A (n.1948T>A) c.*1466T>A (n.*1466T>A) c.*485T>A (n.*485T>A) c.1219T>A (p.Phe407Ile) c.1195T>A (p.Phe399Ile) n.559T>A n.6232T>A c.723T>A c.1198T>A (p.Phe400Ile) c.1354T>A (p.Phe452Ile) c.1405T>A (p.Phe469Ile) c.*863T>A (n.*863T>A) c.1382T>A (n.1382T>A) c.1276T>A (p.Phe426Ile) c.*119T>A (n.*119T>A) c.1282T>A (p.Phe428Ile) c.1258T>A (p.Phe420Ile) c.1324T>A (p.Phe442Ile) c.841T>A (p.Phe281Ile) c.865T>A (p.Phe289Ile) | |
5 | g.162153225T>C | CA362183648 | GABRG2 | c.1286T>C c.1381T>C (p.Phe461Leu) c.1344T>C n.539T>C c.976T>C (p.Phe326Leu) c.1000T>C (p.Phe334Leu) c.*3882T>C (n.*3882T>C) c.1162T>C c.652T>C (p.Phe218Leu) c.1261T>C (p.Phe421Leu) c.1285T>C (p.Phe429Leu) c.1948T>C (n.1948T>C) c.*1466T>C (n.*1466T>C) c.*485T>C (n.*485T>C) c.1219T>C (p.Phe407Leu) c.1195T>C (p.Phe399Leu) n.559T>C n.6232T>C c.723T>C c.1198T>C (p.Phe400Leu) c.1354T>C (p.Phe452Leu) c.1405T>C (p.Phe469Leu) c.*863T>C (n.*863T>C) c.1382T>C (n.1382T>C) c.1276T>C (p.Phe426Leu) c.*119T>C (n.*119T>C) c.1282T>C (p.Phe428Leu) c.1258T>C (p.Phe420Leu) c.1324T>C (p.Phe442Leu) c.841T>C (p.Phe281Leu) c.865T>C (p.Phe289Leu) | |
5 | g.162153225T>G | CA362183650 | GABRG2 | c.1286T>G c.1381T>G (p.Phe461Val) c.1344T>G n.539T>G c.976T>G (p.Phe326Val) c.1000T>G (p.Phe334Val) c.*3882T>G (n.*3882T>G) c.1162T>G c.652T>G (p.Phe218Val) c.1261T>G (p.Phe421Val) c.1285T>G (p.Phe429Val) c.1948T>G (n.1948T>G) c.*1466T>G (n.*1466T>G) c.*485T>G (n.*485T>G) c.1219T>G (p.Phe407Val) c.1195T>G (p.Phe399Val) n.559T>G n.6232T>G c.723T>G c.1198T>G (p.Phe400Val) c.1354T>G (p.Phe452Val) c.1405T>G (p.Phe469Val) c.*863T>G (n.*863T>G) c.1382T>G (n.1382T>G) c.1276T>G (p.Phe426Val) c.*119T>G (n.*119T>G) c.1282T>G (p.Phe428Val) c.1258T>G (p.Phe420Val) c.1324T>G (p.Phe442Val) c.841T>G (p.Phe281Val) c.865T>G (p.Phe289Val) | |
5 | g.162153226T>A | CA362183652 | GABRG2 | c.1287T>A c.1382T>A (p.Phe461Tyr) c.1345T>A n.540T>A c.977T>A (p.Phe326Tyr) c.1001T>A (p.Phe334Tyr) c.*3883T>A (n.*3883T>A) c.1163T>A c.653T>A (p.Phe218Tyr) c.1262T>A (p.Phe421Tyr) c.1286T>A (p.Phe429Tyr) c.1949T>A (n.1949T>A) c.*1467T>A (n.*1467T>A) c.*486T>A (n.*486T>A) c.1220T>A (p.Phe407Tyr) c.1196T>A (p.Phe399Tyr) n.560T>A n.6233T>A c.724T>A c.1199T>A (p.Phe400Tyr) c.1355T>A (p.Phe452Tyr) c.1406T>A (p.Phe469Tyr) c.*864T>A (n.*864T>A) c.1383T>A (n.1383T>A) c.1277T>A (p.Phe426Tyr) c.*120T>A (n.*120T>A) c.1283T>A (p.Phe428Tyr) c.1259T>A (p.Phe420Tyr) c.1325T>A (p.Phe442Tyr) c.842T>A (p.Phe281Tyr) c.866T>A (p.Phe289Tyr) | |
5 | g.162153226T>C | CA362183654 | GABRG2 | c.1287T>C c.1382T>C (p.Phe461Ser) c.1345T>C n.540T>C c.977T>C (p.Phe326Ser) c.1001T>C (p.Phe334Ser) c.*3883T>C (n.*3883T>C) c.1163T>C c.653T>C (p.Phe218Ser) c.1262T>C (p.Phe421Ser) c.1286T>C (p.Phe429Ser) c.1949T>C (n.1949T>C) c.*1467T>C (n.*1467T>C) c.*486T>C (n.*486T>C) c.1220T>C (p.Phe407Ser) c.1196T>C (p.Phe399Ser) n.560T>C n.6233T>C c.724T>C c.1199T>C (p.Phe400Ser) c.1355T>C (p.Phe452Ser) c.1406T>C (p.Phe469Ser) c.*864T>C (n.*864T>C) c.1383T>C (n.1383T>C) c.1277T>C (p.Phe426Ser) c.*120T>C (n.*120T>C) c.1283T>C (p.Phe428Ser) c.1259T>C (p.Phe420Ser) c.1325T>C (p.Phe442Ser) c.842T>C (p.Phe281Ser) c.866T>C (p.Phe289Ser) | |
5 | g.162153226T>G | CA362183656 | GABRG2 | c.1287T>G c.1382T>G (p.Phe461Cys) c.1345T>G n.540T>G c.977T>G (p.Phe326Cys) c.1001T>G (p.Phe334Cys) c.*3883T>G (n.*3883T>G) c.1163T>G c.653T>G (p.Phe218Cys) c.1262T>G (p.Phe421Cys) c.1286T>G (p.Phe429Cys) c.1949T>G (n.1949T>G) c.*1467T>G (n.*1467T>G) c.*486T>G (n.*486T>G) c.1220T>G (p.Phe407Cys) c.1196T>G (p.Phe399Cys) n.560T>G n.6233T>G c.724T>G c.1199T>G (p.Phe400Cys) c.1355T>G (p.Phe452Cys) c.1406T>G (p.Phe469Cys) c.*864T>G (n.*864T>G) c.1383T>G (n.1383T>G) c.1277T>G (p.Phe426Cys) c.*120T>G (n.*120T>G) c.1283T>G (p.Phe428Cys) c.1259T>G (p.Phe420Cys) c.1325T>G (p.Phe442Cys) c.842T>G (p.Phe281Cys) c.866T>G (p.Phe289Cys) | |
5 | g.162153227T>A | CA362183658 | GABRG2 | c.1288T>A c.1383T>A (p.Phe461Leu) c.1346T>A n.541T>A c.978T>A (p.Phe326Leu) c.1002T>A (p.Phe334Leu) c.*3884T>A (n.*3884T>A) c.1164T>A c.654T>A (p.Phe218Leu) c.1263T>A (p.Phe421Leu) c.1287T>A (p.Phe429Leu) c.1950T>A (n.1950T>A) c.*1468T>A (n.*1468T>A) c.*487T>A (n.*487T>A) c.1221T>A (p.Phe407Leu) c.1197T>A (p.Phe399Leu) n.561T>A n.6234T>A c.725T>A c.1200T>A (p.Phe400Leu) c.1356T>A (p.Phe452Leu) c.1407T>A (p.Phe469Leu) c.*865T>A (n.*865T>A) c.1384T>A (n.1384T>A) c.1278T>A (p.Phe426Leu) c.*121T>A (n.*121T>A) c.1284T>A (p.Phe428Leu) c.1260T>A (p.Phe420Leu) c.1326T>A (p.Phe442Leu) c.843T>A (p.Phe281Leu) c.867T>A (p.Phe289Leu) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.162153227T>C | CA447691822 | GABRG2 | c.1288T>C c.1383T>C (p.Phe461=) c.1346T>C n.541T>C c.978T>C (p.Phe326=) c.1002T>C (p.Phe334=) c.*3884T>C (n.*3884T>C) c.1164T>C c.654T>C (p.Phe218=) c.1263T>C (p.Phe421=) c.1287T>C (p.Phe429=) c.1950T>C (n.1950T>C) c.*1468T>C (n.*1468T>C) c.*487T>C (n.*487T>C) c.1221T>C (p.Phe407=) c.1197T>C (p.Phe399=) n.561T>C n.6234T>C c.725T>C c.1200T>C (p.Phe400=) c.1356T>C (p.Phe452=) c.1407T>C (p.Phe469=) c.*865T>C (n.*865T>C) c.1384T>C (n.1384T>C) c.1278T>C (p.Phe426=) c.*121T>C (n.*121T>C) c.1284T>C (p.Phe428=) c.1260T>C (p.Phe420=) c.1326T>C (p.Phe442=) c.843T>C (p.Phe281=) c.867T>C (p.Phe289=) | |
5 | g.162153227T>G | CA362183660 | GABRG2 | c.1288T>G c.1383T>G (p.Phe461Leu) c.1346T>G n.541T>G c.978T>G (p.Phe326Leu) c.1002T>G (p.Phe334Leu) c.*3884T>G (n.*3884T>G) c.1164T>G c.654T>G (p.Phe218Leu) c.1263T>G (p.Phe421Leu) c.1287T>G (p.Phe429Leu) c.1950T>G (n.1950T>G) c.*1468T>G (n.*1468T>G) c.*487T>G (n.*487T>G) c.1221T>G (p.Phe407Leu) c.1197T>G (p.Phe399Leu) n.561T>G n.6234T>G c.725T>G c.1200T>G (p.Phe400Leu) c.1356T>G (p.Phe452Leu) c.1407T>G (p.Phe469Leu) c.*865T>G (n.*865T>G) c.1384T>G (n.1384T>G) c.1278T>G (p.Phe426Leu) c.*121T>G (n.*121T>G) c.1284T>G (p.Phe428Leu) c.1260T>G (p.Phe420Leu) c.1326T>G (p.Phe442Leu) c.843T>G (p.Phe281Leu) c.867T>G (p.Phe289Leu) | |
5 | g.162153227T= | CA1596382114 | GABRG2 | c.1288T= c.1383T= (p.Phe461=) c.1346T= n.541T= c.978T= (p.Phe326=) c.1002T= (p.Phe334=) c.*3884T= (n.*3884T=) c.1164T= c.654T= (p.Phe218=) c.1263T= (p.Phe421=) c.1287T= (p.Phe429=) c.1950T= (n.1950T=) c.*1468T= (n.*1468T=) c.*487T= (n.*487T=) c.1221T= (p.Phe407=) c.1197T= (p.Phe399=) n.561T= n.6234T= c.725T= c.1200T= (p.Phe400=) c.1356T= (p.Phe452=) c.1407T= (p.Phe469=) c.*865T= (n.*865T=) c.1384T= (n.1384T=) c.1278T= (p.Phe426=) c.*121T= (n.*121T=) c.1284T= (p.Phe428=) c.1260T= (p.Phe420=) c.1326T= (p.Phe442=) c.843T= (p.Phe281=) c.867T= (p.Phe289=) | |
5 | g.162153228G>A | CA362183662 | GABRG2 | c.1289G>A c.1384G>A (p.Glu462Lys) c.1347G>A n.542G>A c.979G>A (p.Glu327Lys) c.1003G>A (p.Glu335Lys) c.*3885G>A (n.*3885G>A) c.1165G>A c.655G>A (p.Glu219Lys) c.1264G>A (p.Glu422Lys) c.1288G>A (p.Glu430Lys) c.1951G>A (n.1951G>A) c.*1469G>A (n.*1469G>A) c.*488G>A (n.*488G>A) c.1222G>A (p.Glu408Lys) c.1198G>A (p.Glu400Lys) n.562G>A n.6235G>A c.726G>A c.1201G>A (p.Glu401Lys) c.1357G>A (p.Glu453Lys) c.1408G>A (p.Glu470Lys) c.*866G>A (n.*866G>A) c.1385G>A (n.1385G>A) c.1279G>A (p.Glu427Lys) c.*122G>A (n.*122G>A) c.1285G>A (p.Glu429Lys) c.1261G>A (p.Glu421Lys) c.1327G>A (p.Glu443Lys) c.844G>A (p.Glu282Lys) c.868G>A (p.Glu290Lys) | COSMIC |
5 | g.162153228G>C | CA362183664 | GABRG2 | c.1289G>C c.1384G>C (p.Glu462Gln) c.1347G>C n.542G>C c.979G>C (p.Glu327Gln) c.1003G>C (p.Glu335Gln) c.*3885G>C (n.*3885G>C) c.1165G>C c.655G>C (p.Glu219Gln) c.1264G>C (p.Glu422Gln) c.1288G>C (p.Glu430Gln) c.1951G>C (n.1951G>C) c.*1469G>C (n.*1469G>C) c.*488G>C (n.*488G>C) c.1222G>C (p.Glu408Gln) c.1198G>C (p.Glu400Gln) n.562G>C n.6235G>C c.726G>C c.1201G>C (p.Glu401Gln) c.1357G>C (p.Glu453Gln) c.1408G>C (p.Glu470Gln) c.*866G>C (n.*866G>C) c.1385G>C (n.1385G>C) c.1279G>C (p.Glu427Gln) c.*122G>C (n.*122G>C) c.1285G>C (p.Glu429Gln) c.1261G>C (p.Glu421Gln) c.1327G>C (p.Glu443Gln) c.844G>C (p.Glu282Gln) c.868G>C (p.Glu290Gln) | gnomAD v4 |
5 | g.162153228G>T | CA362183666 | GABRG2 | c.1289G>T c.1384G>T (p.Glu462Ter) c.1347G>T n.542G>T c.979G>T (p.Glu327Ter) c.1003G>T (p.Glu335Ter) c.*3885G>T (n.*3885G>T) c.1165G>T c.655G>T (p.Glu219Ter) c.1264G>T (p.Glu422Ter) c.1288G>T (p.Glu430Ter) c.1951G>T (n.1951G>T) c.*1469G>T (n.*1469G>T) c.*488G>T (n.*488G>T) c.1222G>T (p.Glu408Ter) c.1198G>T (p.Glu400Ter) n.562G>T n.6235G>T c.726G>T c.1201G>T (p.Glu401Ter) c.1357G>T (p.Glu453Ter) c.1408G>T (p.Glu470Ter) c.*866G>T (n.*866G>T) c.1385G>T (n.1385G>T) c.1279G>T (p.Glu427Ter) c.*122G>T (n.*122G>T) c.1285G>T (p.Glu429Ter) c.1261G>T (p.Glu421Ter) c.1327G>T (p.Glu443Ter) c.844G>T (p.Glu282Ter) c.868G>T (p.Glu290Ter) | COSMIC |
5 | g.162153229A>C | CA362183669 | GABRG2 | c.1290A>C c.1385A>C (p.Glu462Ala) c.1348A>C n.543A>C c.980A>C (p.Glu327Ala) c.1004A>C (p.Glu335Ala) c.*3886A>C (n.*3886A>C) c.1166A>C c.656A>C (p.Glu219Ala) c.1265A>C (p.Glu422Ala) c.1289A>C (p.Glu430Ala) c.1952A>C (n.1952A>C) c.*1470A>C (n.*1470A>C) c.*489A>C (n.*489A>C) c.1223A>C (p.Glu408Ala) c.1199A>C (p.Glu400Ala) n.563A>C n.6236A>C c.727A>C c.1202A>C (p.Glu401Ala) c.1358A>C (p.Glu453Ala) c.1409A>C (p.Glu470Ala) c.*867A>C (n.*867A>C) c.1386A>C (n.1386A>C) c.1280A>C (p.Glu427Ala) c.*123A>C (n.*123A>C) c.1286A>C (p.Glu429Ala) c.1262A>C (p.Glu421Ala) c.1328A>C (p.Glu443Ala) c.845A>C (p.Glu282Ala) c.869A>C (p.Glu290Ala) | |
5 | g.162153229A>G | CA362183671 | GABRG2 | c.1290A>G c.1385A>G (p.Glu462Gly) c.1348A>G n.543A>G c.980A>G (p.Glu327Gly) c.1004A>G (p.Glu335Gly) c.*3886A>G (n.*3886A>G) c.1166A>G c.656A>G (p.Glu219Gly) c.1265A>G (p.Glu422Gly) c.1289A>G (p.Glu430Gly) c.1952A>G (n.1952A>G) c.*1470A>G (n.*1470A>G) c.*489A>G (n.*489A>G) c.1223A>G (p.Glu408Gly) c.1199A>G (p.Glu400Gly) n.563A>G n.6236A>G c.727A>G c.1202A>G (p.Glu401Gly) c.1358A>G (p.Glu453Gly) c.1409A>G (p.Glu470Gly) c.*867A>G (n.*867A>G) c.1386A>G (n.1386A>G) c.1280A>G (p.Glu427Gly) c.*123A>G (n.*123A>G) c.1286A>G (p.Glu429Gly) c.1262A>G (p.Glu421Gly) c.1328A>G (p.Glu443Gly) c.845A>G (p.Glu282Gly) c.869A>G (p.Glu290Gly) | |
5 | g.162153229A>T | CA362183668 | GABRG2 | c.1290A>T c.1385A>T (p.Glu462Val) c.1348A>T n.543A>T c.980A>T (p.Glu327Val) c.1004A>T (p.Glu335Val) c.*3886A>T (n.*3886A>T) c.1166A>T c.656A>T (p.Glu219Val) c.1265A>T (p.Glu422Val) c.1289A>T (p.Glu430Val) c.1952A>T (n.1952A>T) c.*1470A>T (n.*1470A>T) c.*489A>T (n.*489A>T) c.1223A>T (p.Glu408Val) c.1199A>T (p.Glu400Val) n.563A>T n.6236A>T c.727A>T c.1202A>T (p.Glu401Val) c.1358A>T (p.Glu453Val) c.1409A>T (p.Glu470Val) c.*867A>T (n.*867A>T) c.1386A>T (n.1386A>T) c.1280A>T (p.Glu427Val) c.*123A>T (n.*123A>T) c.1286A>T (p.Glu429Val) c.1262A>T (p.Glu421Val) c.1328A>T (p.Glu443Val) c.845A>T (p.Glu282Val) c.869A>T (p.Glu290Val) | |
5 | g.162153230A>C | CA362183673 | GABRG2 | c.1291A>C c.1386A>C (p.Glu462Asp) c.1349A>C n.544A>C c.981A>C (p.Glu327Asp) c.1005A>C (p.Glu335Asp) c.*3887A>C (n.*3887A>C) c.1167A>C c.657A>C (p.Glu219Asp) c.1266A>C (p.Glu422Asp) c.1290A>C (p.Glu430Asp) c.1953A>C (n.1953A>C) c.*1471A>C (n.*1471A>C) c.*490A>C (n.*490A>C) c.1224A>C (p.Glu408Asp) c.1200A>C (p.Glu400Asp) n.564A>C n.6237A>C c.728A>C c.1203A>C (p.Glu401Asp) c.1359A>C (p.Glu453Asp) c.1410A>C (p.Glu470Asp) c.*868A>C (n.*868A>C) c.1387A>C (n.1387A>C) c.1281A>C (p.Glu427Asp) c.*124A>C (n.*124A>C) c.1287A>C (p.Glu429Asp) c.1263A>C (p.Glu421Asp) c.1329A>C (p.Glu443Asp) c.846A>C (p.Glu282Asp) c.870A>C (p.Glu290Asp) | COSMIC |
5 | g.162153230A>G | CA447691826 | GABRG2 | c.1291A>G c.1386A>G (p.Glu462=) c.1349A>G n.544A>G c.981A>G (p.Glu327=) c.1005A>G (p.Glu335=) c.*3887A>G (n.*3887A>G) c.1167A>G c.657A>G (p.Glu219=) c.1266A>G (p.Glu422=) c.1290A>G (p.Glu430=) c.1953A>G (n.1953A>G) c.*1471A>G (n.*1471A>G) c.*490A>G (n.*490A>G) c.1224A>G (p.Glu408=) c.1200A>G (p.Glu400=) n.564A>G n.6237A>G c.728A>G c.1203A>G (p.Glu401=) c.1359A>G (p.Glu453=) c.1410A>G (p.Glu470=) c.*868A>G (n.*868A>G) c.1387A>G (n.1387A>G) c.1281A>G (p.Glu427=) c.*124A>G (n.*124A>G) c.1287A>G (p.Glu429=) c.1263A>G (p.Glu421=) c.1329A>G (p.Glu443=) c.846A>G (p.Glu282=) c.870A>G (p.Glu290=) | |
5 | g.162153230A>T | CA362183674 | GABRG2 | c.1291A>T c.1386A>T (p.Glu462Asp) c.1349A>T n.544A>T c.981A>T (p.Glu327Asp) c.1005A>T (p.Glu335Asp) c.*3887A>T (n.*3887A>T) c.1167A>T c.657A>T (p.Glu219Asp) c.1266A>T (p.Glu422Asp) c.1290A>T (p.Glu430Asp) c.1953A>T (n.1953A>T) c.*1471A>T (n.*1471A>T) c.*490A>T (n.*490A>T) c.1224A>T (p.Glu408Asp) c.1200A>T (p.Glu400Asp) n.564A>T n.6237A>T c.728A>T c.1203A>T (p.Glu401Asp) c.1359A>T (p.Glu453Asp) c.1410A>T (p.Glu470Asp) c.*868A>T (n.*868A>T) c.1387A>T (n.1387A>T) c.1281A>T (p.Glu427Asp) c.*124A>T (n.*124A>T) c.1287A>T (p.Glu429Asp) c.1263A>T (p.Glu421Asp) c.1329A>T (p.Glu443Asp) c.846A>T (p.Glu282Asp) c.870A>T (p.Glu290Asp) | |
5 | g.162153231G>A | CA362183676 | GABRG2 | c.1292G>A c.1387G>A (p.Asp463Asn) c.1350G>A n.545G>A c.982G>A (p.Asp328Asn) c.1006G>A (p.Asp336Asn) c.*3888G>A (n.*3888G>A) c.1168G>A c.658G>A (p.Asp220Asn) c.1267G>A (p.Asp423Asn) c.1291G>A (p.Asp431Asn) c.1954G>A (n.1954G>A) c.*1472G>A (n.*1472G>A) c.*491G>A (n.*491G>A) c.1225G>A (p.Asp409Asn) c.1201G>A (p.Asp401Asn) n.565G>A n.6238G>A c.729G>A c.1204G>A (p.Asp402Asn) c.1360G>A (p.Asp454Asn) c.1411G>A (p.Asp471Asn) c.*869G>A (n.*869G>A) c.1388G>A (n.1388G>A) c.1282G>A (p.Asp428Asn) c.*125G>A (n.*125G>A) c.1288G>A (p.Asp430Asn) c.1264G>A (p.Asp422Asn) c.1330G>A (p.Asp444Asn) c.847G>A (p.Asp283Asn) c.871G>A (p.Asp291Asn) | COSMIC |
5 | g.162153231G>C | CA362183677 | GABRG2 | c.1292G>C c.1387G>C (p.Asp463His) c.1350G>C n.545G>C c.982G>C (p.Asp328His) c.1006G>C (p.Asp336His) c.*3888G>C (n.*3888G>C) c.1168G>C c.658G>C (p.Asp220His) c.1267G>C (p.Asp423His) c.1291G>C (p.Asp431His) c.1954G>C (n.1954G>C) c.*1472G>C (n.*1472G>C) c.*491G>C (n.*491G>C) c.1225G>C (p.Asp409His) c.1201G>C (p.Asp401His) n.565G>C n.6238G>C c.729G>C c.1204G>C (p.Asp402His) c.1360G>C (p.Asp454His) c.1411G>C (p.Asp471His) c.*869G>C (n.*869G>C) c.1388G>C (n.1388G>C) c.1282G>C (p.Asp428His) c.*125G>C (n.*125G>C) c.1288G>C (p.Asp430His) c.1264G>C (p.Asp422His) c.1330G>C (p.Asp444His) c.847G>C (p.Asp283His) c.871G>C (p.Asp291His) | ClinVar dbSNP |
5 | g.162153231G= | CA1596382116 | GABRG2 | c.1292G= c.1387G= (p.Asp463=) c.1350G= n.545G= c.982G= (p.Asp328=) c.1006G= (p.Asp336=) c.*3888G= (n.*3888G=) c.1168G= c.658G= (p.Asp220=) c.1267G= (p.Asp423=) c.1291G= (p.Asp431=) c.1954G= (n.1954G=) c.*1472G= (n.*1472G=) c.*491G= (n.*491G=) c.1225G= (p.Asp409=) c.1201G= (p.Asp401=) n.565G= n.6238G= c.729G= c.1204G= (p.Asp402=) c.1360G= (p.Asp454=) c.1411G= (p.Asp471=) c.*869G= (n.*869G=) c.1388G= (n.1388G=) c.1282G= (p.Asp428=) c.*125G= (n.*125G=) c.1288G= (p.Asp430=) c.1264G= (p.Asp422=) c.1330G= (p.Asp444=) c.847G= (p.Asp283=) c.871G= (p.Asp291=) | |
5 | g.162153231G>T | CA362183679 | GABRG2 | c.1292G>T c.1387G>T (p.Asp463Tyr) c.1350G>T n.545G>T c.982G>T (p.Asp328Tyr) c.1006G>T (p.Asp336Tyr) c.*3888G>T (n.*3888G>T) c.1168G>T c.658G>T (p.Asp220Tyr) c.1267G>T (p.Asp423Tyr) c.1291G>T (p.Asp431Tyr) c.1954G>T (n.1954G>T) c.*1472G>T (n.*1472G>T) c.*491G>T (n.*491G>T) c.1225G>T (p.Asp409Tyr) c.1201G>T (p.Asp401Tyr) n.565G>T n.6238G>T c.729G>T c.1204G>T (p.Asp402Tyr) c.1360G>T (p.Asp454Tyr) c.1411G>T (p.Asp471Tyr) c.*869G>T (n.*869G>T) c.1388G>T (n.1388G>T) c.1282G>T (p.Asp428Tyr) c.*125G>T (n.*125G>T) c.1288G>T (p.Asp430Tyr) c.1264G>T (p.Asp422Tyr) c.1330G>T (p.Asp444Tyr) c.847G>T (p.Asp283Tyr) c.871G>T (p.Asp291Tyr) | dbSNP |
5 | g.162153232A>C | CA362183681 | GABRG2 | c.1293A>C c.1388A>C (p.Asp463Ala) c.1351A>C n.546A>C c.983A>C (p.Asp328Ala) c.1007A>C (p.Asp336Ala) c.*3889A>C (n.*3889A>C) c.1169A>C c.659A>C (p.Asp220Ala) c.1268A>C (p.Asp423Ala) c.1292A>C (p.Asp431Ala) c.1955A>C (n.1955A>C) c.*1473A>C (n.*1473A>C) c.*492A>C (n.*492A>C) c.1226A>C (p.Asp409Ala) c.1202A>C (p.Asp401Ala) n.566A>C n.6239A>C c.730A>C c.1205A>C (p.Asp402Ala) c.1361A>C (p.Asp454Ala) c.1412A>C (p.Asp471Ala) c.*870A>C (n.*870A>C) c.1389A>C (n.1389A>C) c.1283A>C (p.Asp428Ala) c.*126A>C (n.*126A>C) c.1289A>C (p.Asp430Ala) c.1265A>C (p.Asp422Ala) c.1331A>C (p.Asp444Ala) c.848A>C (p.Asp283Ala) c.872A>C (p.Asp291Ala) | |
5 | g.162153232A>G | CA362183682 | GABRG2 | c.1293A>G c.1388A>G (p.Asp463Gly) c.1351A>G n.546A>G c.983A>G (p.Asp328Gly) c.1007A>G (p.Asp336Gly) c.*3889A>G (n.*3889A>G) c.1169A>G c.659A>G (p.Asp220Gly) c.1268A>G (p.Asp423Gly) c.1292A>G (p.Asp431Gly) c.1955A>G (n.1955A>G) c.*1473A>G (n.*1473A>G) c.*492A>G (n.*492A>G) c.1226A>G (p.Asp409Gly) c.1202A>G (p.Asp401Gly) n.566A>G n.6239A>G c.730A>G c.1205A>G (p.Asp402Gly) c.1361A>G (p.Asp454Gly) c.1412A>G (p.Asp471Gly) c.*870A>G (n.*870A>G) c.1389A>G (n.1389A>G) c.1283A>G (p.Asp428Gly) c.*126A>G (n.*126A>G) c.1289A>G (p.Asp430Gly) c.1265A>G (p.Asp422Gly) c.1331A>G (p.Asp444Gly) c.848A>G (p.Asp283Gly) c.872A>G (p.Asp291Gly) | |
5 | g.162153232A>T | CA362183683 | GABRG2 | c.1293A>T c.1388A>T (p.Asp463Val) c.1351A>T n.546A>T c.983A>T (p.Asp328Val) c.1007A>T (p.Asp336Val) c.*3889A>T (n.*3889A>T) c.1169A>T c.659A>T (p.Asp220Val) c.1268A>T (p.Asp423Val) c.1292A>T (p.Asp431Val) c.1955A>T (n.1955A>T) c.*1473A>T (n.*1473A>T) c.*492A>T (n.*492A>T) c.1226A>T (p.Asp409Val) c.1202A>T (p.Asp401Val) n.566A>T n.6239A>T c.730A>T c.1205A>T (p.Asp402Val) c.1361A>T (p.Asp454Val) c.1412A>T (p.Asp471Val) c.*870A>T (n.*870A>T) c.1389A>T (n.1389A>T) c.1283A>T (p.Asp428Val) c.*126A>T (n.*126A>T) c.1289A>T (p.Asp430Val) c.1265A>T (p.Asp422Val) c.1331A>T (p.Asp444Val) c.848A>T (p.Asp283Val) c.872A>T (p.Asp291Val) | |
5 | g.162153233T>A | CA362183685 | GABRG2 | c.1294T>A c.1389T>A (p.Asp463Glu) c.1352T>A n.547T>A c.984T>A (p.Asp328Glu) c.1008T>A (p.Asp336Glu) c.*3890T>A (n.*3890T>A) c.1170T>A c.660T>A (p.Asp220Glu) c.1269T>A (p.Asp423Glu) c.1293T>A (p.Asp431Glu) c.1956T>A (n.1956T>A) c.*1474T>A (n.*1474T>A) c.*493T>A (n.*493T>A) c.1227T>A (p.Asp409Glu) c.1203T>A (p.Asp401Glu) n.567T>A n.6240T>A c.731T>A c.1206T>A (p.Asp402Glu) c.1362T>A (p.Asp454Glu) c.1413T>A (p.Asp471Glu) c.*871T>A (n.*871T>A) c.1390T>A (n.1390T>A) c.1284T>A (p.Asp428Glu) c.*127T>A (n.*127T>A) c.1290T>A (p.Asp430Glu) c.1266T>A (p.Asp422Glu) c.1332T>A (p.Asp444Glu) c.849T>A (p.Asp283Glu) c.873T>A (p.Asp291Glu) | |
5 | g.162153233T>C | CA447691830 | GABRG2 | c.1294T>C c.1389T>C (p.Asp463=) c.1352T>C n.547T>C c.984T>C (p.Asp328=) c.1008T>C (p.Asp336=) c.*3890T>C (n.*3890T>C) c.1170T>C c.660T>C (p.Asp220=) c.1269T>C (p.Asp423=) c.1293T>C (p.Asp431=) c.1956T>C (n.1956T>C) c.*1474T>C (n.*1474T>C) c.*493T>C (n.*493T>C) c.1227T>C (p.Asp409=) c.1203T>C (p.Asp401=) n.567T>C n.6240T>C c.731T>C c.1206T>C (p.Asp402=) c.1362T>C (p.Asp454=) c.1413T>C (p.Asp471=) c.*871T>C (n.*871T>C) c.1390T>C (n.1390T>C) c.1284T>C (p.Asp428=) c.*127T>C (n.*127T>C) c.1290T>C (p.Asp430=) c.1266T>C (p.Asp422=) c.1332T>C (p.Asp444=) c.849T>C (p.Asp283=) c.873T>C (p.Asp291=) | gnomAD v4 |
5 | g.162153233T>G | CA362183686 | GABRG2 | c.1294T>G c.1389T>G (p.Asp463Glu) c.1352T>G n.547T>G c.984T>G (p.Asp328Glu) c.1008T>G (p.Asp336Glu) c.*3890T>G (n.*3890T>G) c.1170T>G c.660T>G (p.Asp220Glu) c.1269T>G (p.Asp423Glu) c.1293T>G (p.Asp431Glu) c.1956T>G (n.1956T>G) c.*1474T>G (n.*1474T>G) c.*493T>G (n.*493T>G) c.1227T>G (p.Asp409Glu) c.1203T>G (p.Asp401Glu) n.567T>G n.6240T>G c.731T>G c.1206T>G (p.Asp402Glu) c.1362T>G (p.Asp454Glu) c.1413T>G (p.Asp471Glu) c.*871T>G (n.*871T>G) c.1390T>G (n.1390T>G) c.1284T>G (p.Asp428Glu) c.*127T>G (n.*127T>G) c.1290T>G (p.Asp430Glu) c.1266T>G (p.Asp422Glu) c.1332T>G (p.Asp444Glu) c.849T>G (p.Asp283Glu) c.873T>G (p.Asp291Glu) | |
5 | g.162153234T>A | CA362183688 | GABRG2 | c.1295T>A c.1390T>A (p.Cys464Ser) c.1353T>A n.548T>A c.985T>A (p.Cys329Ser) c.1009T>A (p.Cys337Ser) c.*3891T>A (n.*3891T>A) c.1171T>A c.661T>A (p.Cys221Ser) c.1270T>A (p.Cys424Ser) c.1294T>A (p.Cys432Ser) c.1957T>A (n.1957T>A) c.*1475T>A (n.*1475T>A) c.*494T>A (n.*494T>A) c.1228T>A (p.Cys410Ser) c.1204T>A (p.Cys402Ser) n.568T>A n.6241T>A c.732T>A c.1207T>A (p.Cys403Ser) c.1363T>A (p.Cys455Ser) c.1414T>A (p.Cys472Ser) c.*872T>A (n.*872T>A) c.1391T>A (n.1391T>A) c.1285T>A (p.Cys429Ser) c.*128T>A (n.*128T>A) c.1291T>A (p.Cys431Ser) c.1267T>A (p.Cys423Ser) c.1333T>A (p.Cys445Ser) c.850T>A (p.Cys284Ser) c.874T>A (p.Cys292Ser) | COSMIC |
5 | g.162153234T>C | CA362183689 | GABRG2 | c.1295T>C c.1390T>C (p.Cys464Arg) c.1353T>C n.548T>C c.985T>C (p.Cys329Arg) c.1009T>C (p.Cys337Arg) c.*3891T>C (n.*3891T>C) c.1171T>C c.661T>C (p.Cys221Arg) c.1270T>C (p.Cys424Arg) c.1294T>C (p.Cys432Arg) c.1957T>C (n.1957T>C) c.*1475T>C (n.*1475T>C) c.*494T>C (n.*494T>C) c.1228T>C (p.Cys410Arg) c.1204T>C (p.Cys402Arg) n.568T>C n.6241T>C c.732T>C c.1207T>C (p.Cys403Arg) c.1363T>C (p.Cys455Arg) c.1414T>C (p.Cys472Arg) c.*872T>C (n.*872T>C) c.1391T>C (n.1391T>C) c.1285T>C (p.Cys429Arg) c.*128T>C (n.*128T>C) c.1291T>C (p.Cys431Arg) c.1267T>C (p.Cys423Arg) c.1333T>C (p.Cys445Arg) c.850T>C (p.Cys284Arg) c.874T>C (p.Cys292Arg) | |
5 | g.162153234T>G | CA362183691 | GABRG2 | c.1295T>G c.1390T>G (p.Cys464Gly) c.1353T>G n.548T>G c.985T>G (p.Cys329Gly) c.1009T>G (p.Cys337Gly) c.*3891T>G (n.*3891T>G) c.1171T>G c.661T>G (p.Cys221Gly) c.1270T>G (p.Cys424Gly) c.1294T>G (p.Cys432Gly) c.1957T>G (n.1957T>G) c.*1475T>G (n.*1475T>G) c.*494T>G (n.*494T>G) c.1228T>G (p.Cys410Gly) c.1204T>G (p.Cys402Gly) n.568T>G n.6241T>G c.732T>G c.1207T>G (p.Cys403Gly) c.1363T>G (p.Cys455Gly) c.1414T>G (p.Cys472Gly) c.*872T>G (n.*872T>G) c.1391T>G (n.1391T>G) c.1285T>G (p.Cys429Gly) c.*128T>G (n.*128T>G) c.1291T>G (p.Cys431Gly) c.1267T>G (p.Cys423Gly) c.1333T>G (p.Cys445Gly) c.850T>G (p.Cys284Gly) c.874T>G (p.Cys292Gly) | |
5 | g.162153235G>A | CA362183696 | GABRG2 | c.1296G>A c.1391G>A (p.Cys464Tyr) c.1354G>A n.549G>A c.986G>A (p.Cys329Tyr) c.1010G>A (p.Cys337Tyr) c.*3892G>A (n.*3892G>A) c.1172G>A c.662G>A (p.Cys221Tyr) c.1271G>A (p.Cys424Tyr) c.1295G>A (p.Cys432Tyr) c.1958G>A (n.1958G>A) c.*1476G>A (n.*1476G>A) c.*495G>A (n.*495G>A) c.1229G>A (p.Cys410Tyr) c.1205G>A (p.Cys402Tyr) n.569G>A n.6242G>A c.733G>A c.1208G>A (p.Cys403Tyr) c.1364G>A (p.Cys455Tyr) c.1415G>A (p.Cys472Tyr) c.*873G>A (n.*873G>A) c.1392G>A (n.1392G>A) c.1286G>A (p.Cys429Tyr) c.*129G>A (n.*129G>A) c.1292G>A (p.Cys431Tyr) c.1268G>A (p.Cys423Tyr) c.1334G>A (p.Cys445Tyr) c.851G>A (p.Cys284Tyr) c.875G>A (p.Cys292Tyr) | |
5 | g.162153235G>C | CA362183695 | GABRG2 | c.1296G>C c.1391G>C (p.Cys464Ser) c.1354G>C n.549G>C c.986G>C (p.Cys329Ser) c.1010G>C (p.Cys337Ser) c.*3892G>C (n.*3892G>C) c.1172G>C c.662G>C (p.Cys221Ser) c.1271G>C (p.Cys424Ser) c.1295G>C (p.Cys432Ser) c.1958G>C (n.1958G>C) c.*1476G>C (n.*1476G>C) c.*495G>C (n.*495G>C) c.1229G>C (p.Cys410Ser) c.1205G>C (p.Cys402Ser) n.569G>C n.6242G>C c.733G>C c.1208G>C (p.Cys403Ser) c.1364G>C (p.Cys455Ser) c.1415G>C (p.Cys472Ser) c.*873G>C (n.*873G>C) c.1392G>C (n.1392G>C) c.1286G>C (p.Cys429Ser) c.*129G>C (n.*129G>C) c.1292G>C (p.Cys431Ser) c.1268G>C (p.Cys423Ser) c.1334G>C (p.Cys445Ser) c.851G>C (p.Cys284Ser) c.875G>C (p.Cys292Ser) | |
5 | g.162153235G>T | CA362183693 | GABRG2 | c.1296G>T c.1391G>T (p.Cys464Phe) c.1354G>T n.549G>T c.986G>T (p.Cys329Phe) c.1010G>T (p.Cys337Phe) c.*3892G>T (n.*3892G>T) c.1172G>T c.662G>T (p.Cys221Phe) c.1271G>T (p.Cys424Phe) c.1295G>T (p.Cys432Phe) c.1958G>T (n.1958G>T) c.*1476G>T (n.*1476G>T) c.*495G>T (n.*495G>T) c.1229G>T (p.Cys410Phe) c.1205G>T (p.Cys402Phe) n.569G>T n.6242G>T c.733G>T c.1208G>T (p.Cys403Phe) c.1364G>T (p.Cys455Phe) c.1415G>T (p.Cys472Phe) c.*873G>T (n.*873G>T) c.1392G>T (n.1392G>T) c.1286G>T (p.Cys429Phe) c.*129G>T (n.*129G>T) c.1292G>T (p.Cys431Phe) c.1268G>T (p.Cys423Phe) c.1334G>T (p.Cys445Phe) c.851G>T (p.Cys284Phe) c.875G>T (p.Cys292Phe) | ClinVar COSMIC |
5 | g.162153236T>A | CA362183697 | GABRG2 | c.1297T>A c.1392T>A (p.Cys464Ter) c.1355T>A n.550T>A c.987T>A (p.Cys329Ter) c.1011T>A (p.Cys337Ter) c.*3893T>A (n.*3893T>A) c.1173T>A c.663T>A (p.Cys221Ter) c.1272T>A (p.Cys424Ter) c.1296T>A (p.Cys432Ter) c.1959T>A (n.1959T>A) c.*1477T>A (n.*1477T>A) c.*496T>A (n.*496T>A) c.1230T>A (p.Cys410Ter) c.1206T>A (p.Cys402Ter) n.570T>A n.6243T>A c.734T>A c.1209T>A (p.Cys403Ter) c.1365T>A (p.Cys455Ter) c.1416T>A (p.Cys472Ter) c.*874T>A (n.*874T>A) c.1393T>A (n.1393T>A) c.1287T>A (p.Cys429Ter) c.*130T>A (n.*130T>A) c.1293T>A (p.Cys431Ter) c.1269T>A (p.Cys423Ter) c.1335T>A (p.Cys445Ter) c.852T>A (p.Cys284Ter) c.876T>A (p.Cys292Ter) | |
5 | g.162153236T>C | CA447691835 | GABRG2 | c.1297T>C c.1392T>C (p.Cys464=) c.1355T>C n.550T>C c.987T>C (p.Cys329=) c.1011T>C (p.Cys337=) c.*3893T>C (n.*3893T>C) c.1173T>C c.663T>C (p.Cys221=) c.1272T>C (p.Cys424=) c.1296T>C (p.Cys432=) c.1959T>C (n.1959T>C) c.*1477T>C (n.*1477T>C) c.*496T>C (n.*496T>C) c.1230T>C (p.Cys410=) c.1206T>C (p.Cys402=) n.570T>C n.6243T>C c.734T>C c.1209T>C (p.Cys403=) c.1365T>C (p.Cys455=) c.1416T>C (p.Cys472=) c.*874T>C (n.*874T>C) c.1393T>C (n.1393T>C) c.1287T>C (p.Cys429=) c.*130T>C (n.*130T>C) c.1293T>C (p.Cys431=) c.1269T>C (p.Cys423=) c.1335T>C (p.Cys445=) c.852T>C (p.Cys284=) c.876T>C (p.Cys292=) | |
5 | g.162153236T>G | CA362183698 | GABRG2 | c.1297T>G c.1392T>G (p.Cys464Trp) c.1355T>G n.550T>G c.987T>G (p.Cys329Trp) c.1011T>G (p.Cys337Trp) c.*3893T>G (n.*3893T>G) c.1173T>G c.663T>G (p.Cys221Trp) c.1272T>G (p.Cys424Trp) c.1296T>G (p.Cys432Trp) c.1959T>G (n.1959T>G) c.*1477T>G (n.*1477T>G) c.*496T>G (n.*496T>G) c.1230T>G (p.Cys410Trp) c.1206T>G (p.Cys402Trp) n.570T>G n.6243T>G c.734T>G c.1209T>G (p.Cys403Trp) c.1365T>G (p.Cys455Trp) c.1416T>G (p.Cys472Trp) c.*874T>G (n.*874T>G) c.1393T>G (n.1393T>G) c.1287T>G (p.Cys429Trp) c.*130T>G (n.*130T>G) c.1293T>G (p.Cys431Trp) c.1269T>G (p.Cys423Trp) c.1335T>G (p.Cys445Trp) c.852T>G (p.Cys284Trp) c.876T>G (p.Cys292Trp) | |
5 | g.162153237C>A | CA447691836 | GABRG2 | c.1298C>A c.1393C>A (p.Arg465=) c.1356C>A n.551C>A c.988C>A (p.Arg330=) c.1012C>A (p.Arg338=) c.*3894C>A (n.*3894C>A) c.1174C>A c.664C>A (p.Arg222=) c.1273C>A (p.Arg425=) c.1297C>A (p.Arg433=) c.1960C>A (n.1960C>A) c.*1478C>A (n.*1478C>A) c.*497C>A (n.*497C>A) c.1231C>A (p.Arg411=) c.1207C>A (p.Arg403=) n.571C>A n.6244C>A c.735C>A c.1210C>A (p.Arg404=) c.1366C>A (p.Arg456=) c.1417C>A (p.Arg473=) c.*875C>A (n.*875C>A) c.1394C>A (n.1394C>A) c.1288C>A (p.Arg430=) c.*131C>A (n.*131C>A) c.1294C>A (p.Arg432=) c.1270C>A (p.Arg424=) c.1336C>A (p.Arg446=) c.853C>A (p.Arg285=) c.877C>A (p.Arg293=) | |
5 | g.162153237C= | CA1596382122 | GABRG2 | c.1298C= c.1393C= (p.Arg465=) c.1356C= n.551C= c.988C= (p.Arg330=) c.1012C= (p.Arg338=) c.*3894C= (n.*3894C=) c.1174C= c.664C= (p.Arg222=) c.1273C= (p.Arg425=) c.1297C= (p.Arg433=) c.1960C= (n.1960C=) c.*1478C= (n.*1478C=) c.*497C= (n.*497C=) c.1231C= (p.Arg411=) c.1207C= (p.Arg403=) n.571C= n.6244C= c.735C= c.1210C= (p.Arg404=) c.1366C= (p.Arg456=) c.1417C= (p.Arg473=) c.*875C= (n.*875C=) c.1394C= (n.1394C=) c.1288C= (p.Arg430=) c.*131C= (n.*131C=) c.1294C= (p.Arg432=) c.1270C= (p.Arg424=) c.1336C= (p.Arg446=) c.853C= (p.Arg285=) c.877C= (p.Arg293=) | |
5 | g.162153237C>G | CA362183720 | GABRG2 | c.1298C>G c.1393C>G (p.Arg465Gly) c.1356C>G n.551C>G c.988C>G (p.Arg330Gly) c.1012C>G (p.Arg338Gly) c.*3894C>G (n.*3894C>G) c.1174C>G c.664C>G (p.Arg222Gly) c.1273C>G (p.Arg425Gly) c.1297C>G (p.Arg433Gly) c.1960C>G (n.1960C>G) c.*1478C>G (n.*1478C>G) c.*497C>G (n.*497C>G) c.1231C>G (p.Arg411Gly) c.1207C>G (p.Arg403Gly) n.571C>G n.6244C>G c.735C>G c.1210C>G (p.Arg404Gly) c.1366C>G (p.Arg456Gly) c.1417C>G (p.Arg473Gly) c.*875C>G (n.*875C>G) c.1394C>G (n.1394C>G) c.1288C>G (p.Arg430Gly) c.*131C>G (n.*131C>G) c.1294C>G (p.Arg432Gly) c.1270C>G (p.Arg424Gly) c.1336C>G (p.Arg446Gly) c.853C>G (p.Arg285Gly) c.877C>G (p.Arg293Gly) | dbSNP |
5 | g.162153237C>T | CA314747 | GABRG2 | c.1298C>T c.1393C>T (p.Arg465Ter) c.1356C>T n.551C>T c.988C>T (p.Arg330Ter) c.1012C>T (p.Arg338Ter) c.*3894C>T (n.*3894C>T) c.1174C>T c.664C>T (p.Arg222Ter) c.1273C>T (p.Arg425Ter) c.1297C>T (p.Arg433Ter) c.1960C>T (n.1960C>T) c.*1478C>T (n.*1478C>T) c.*497C>T (n.*497C>T) c.1231C>T (p.Arg411Ter) c.1207C>T (p.Arg403Ter) n.571C>T n.6244C>T c.735C>T c.1210C>T (p.Arg404Ter) c.1366C>T (p.Arg456Ter) c.1417C>T (p.Arg473Ter) c.*875C>T (n.*875C>T) c.1394C>T (n.1394C>T) c.1288C>T (p.Arg430Ter) c.*131C>T (n.*131C>T) c.1294C>T (p.Arg432Ter) c.1270C>T (p.Arg424Ter) c.1336C>T (p.Arg446Ter) c.853C>T (p.Arg285Ter) c.877C>T (p.Arg293Ter) | ClinVar dbSNP gnomAD v4 |
5 | g.162153237_162153238delinsTC | CA645553269 | GABRG2 | c.1298_1299delinsTC c.1393_1394delinsTC (p.Arg465Ser) c.1356_1357delinsTC n.551_552delinsTC c.988_989delinsTC (p.Arg330Ser) c.1012_1013delinsTC (p.Arg338Ser) c.*3894_*3895delinsTC (n.*3894_*3895delinsTC) c.1174_1175delinsTC c.664_665delinsTC (p.Arg222Ser) c.1273_1274delinsTC (p.Arg425Ser) c.1297_1298delinsTC (p.Arg433Ser) c.1960_1961delinsTC (n.1960_1961delinsTC) c.*1478_*1479delinsTC (n.*1478_*1479delinsTC) c.*497_*498delinsTC (n.*497_*498delinsTC) c.1231_1232delinsTC (p.Arg411Ser) c.1207_1208delinsTC (p.Arg403Ser) n.571_572delinsTC n.6244_6245delinsTC c.735_736delinsTC c.1210_1211delinsTC (p.Arg404Ser) c.1366_1367delinsTC (p.Arg456Ser) c.1417_1418delinsTC (p.Arg473Ser) c.*875_*876delinsTC (n.*875_*876delinsTC) c.1394_1395delinsTC (n.1394_1395delinsTC) c.1288_1289delinsTC (p.Arg430Ser) c.*131_*132delinsTC (n.*131_*132delinsTC) c.1294_1295delinsTC (p.Arg432Ser) c.1270_1271delinsTC (p.Arg424Ser) c.1336_1337delinsTC (p.Arg446Ser) c.853_854delinsTC (p.Arg285Ser) c.877_878delinsTC (p.Arg293Ser) | COSMIC |
5 | g.162153238G>A | CA3544988 | GABRG2 | c.1299G>A c.1394G>A (p.Arg465Gln) c.1357G>A n.552G>A c.989G>A (p.Arg330Gln) c.1013G>A (p.Arg338Gln) c.*3895G>A (n.*3895G>A) c.1175G>A c.665G>A (p.Arg222Gln) c.1274G>A (p.Arg425Gln) c.1298G>A (p.Arg433Gln) c.1961G>A (n.1961G>A) c.*1479G>A (n.*1479G>A) c.*498G>A (n.*498G>A) c.1232G>A (p.Arg411Gln) c.1208G>A (p.Arg403Gln) n.572G>A n.6245G>A c.736G>A c.1211G>A (p.Arg404Gln) c.1367G>A (p.Arg456Gln) c.1418G>A (p.Arg473Gln) c.*876G>A (n.*876G>A) c.1395G>A (n.1395G>A) c.1289G>A (p.Arg430Gln) c.*132G>A (n.*132G>A) c.1295G>A (p.Arg432Gln) c.1271G>A (p.Arg424Gln) c.1337G>A (p.Arg446Gln) c.854G>A (p.Arg285Gln) c.878G>A (p.Arg293Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
5 | g.162153238G>C | CA362183724 | GABRG2 | c.1299G>C c.1394G>C (p.Arg465Pro) c.1357G>C n.552G>C c.989G>C (p.Arg330Pro) c.1013G>C (p.Arg338Pro) c.*3895G>C (n.*3895G>C) c.1175G>C c.665G>C (p.Arg222Pro) c.1274G>C (p.Arg425Pro) c.1298G>C (p.Arg433Pro) c.1961G>C (n.1961G>C) c.*1479G>C (n.*1479G>C) c.*498G>C (n.*498G>C) c.1232G>C (p.Arg411Pro) c.1208G>C (p.Arg403Pro) n.572G>C n.6245G>C c.736G>C c.1211G>C (p.Arg404Pro) c.1367G>C (p.Arg456Pro) c.1418G>C (p.Arg473Pro) c.*876G>C (n.*876G>C) c.1395G>C (n.1395G>C) c.1289G>C (p.Arg430Pro) c.*132G>C (n.*132G>C) c.1295G>C (p.Arg432Pro) c.1271G>C (p.Arg424Pro) c.1337G>C (p.Arg446Pro) c.854G>C (p.Arg285Pro) c.878G>C (p.Arg293Pro) | |
5 | g.162153238G= | CA1596382130 | GABRG2 | c.1299G= c.1394G= (p.Arg465=) c.1357G= n.552G= c.989G= (p.Arg330=) c.1013G= (p.Arg338=) c.*3895G= (n.*3895G=) c.1175G= c.665G= (p.Arg222=) c.1274G= (p.Arg425=) c.1298G= (p.Arg433=) c.1961G= (n.1961G=) c.*1479G= (n.*1479G=) c.*498G= (n.*498G=) c.1232G= (p.Arg411=) c.1208G= (p.Arg403=) n.572G= n.6245G= c.736G= c.1211G= (p.Arg404=) c.1367G= (p.Arg456=) c.1418G= (p.Arg473=) c.*876G= (n.*876G=) c.1395G= (n.1395G=) c.1289G= (p.Arg430=) c.*132G= (n.*132G=) c.1295G= (p.Arg432=) c.1271G= (p.Arg424=) c.1337G= (p.Arg446=) c.854G= (p.Arg285=) c.878G= (p.Arg293=) | |
5 | g.162153238G>T | CA362183726 | GABRG2 | c.1299G>T c.1394G>T (p.Arg465Leu) c.1357G>T n.552G>T c.989G>T (p.Arg330Leu) c.1013G>T (p.Arg338Leu) c.*3895G>T (n.*3895G>T) c.1175G>T c.665G>T (p.Arg222Leu) c.1274G>T (p.Arg425Leu) c.1298G>T (p.Arg433Leu) c.1961G>T (n.1961G>T) c.*1479G>T (n.*1479G>T) c.*498G>T (n.*498G>T) c.1232G>T (p.Arg411Leu) c.1208G>T (p.Arg403Leu) n.572G>T n.6245G>T c.736G>T c.1211G>T (p.Arg404Leu) c.1367G>T (p.Arg456Leu) c.1418G>T (p.Arg473Leu) c.*876G>T (n.*876G>T) c.1395G>T (n.1395G>T) c.1289G>T (p.Arg430Leu) c.*132G>T (n.*132G>T) c.1295G>T (p.Arg432Leu) c.1271G>T (p.Arg424Leu) c.1337G>T (p.Arg446Leu) c.854G>T (p.Arg285Leu) c.878G>T (p.Arg293Leu) | |
5 | g.162153239A>C | CA447691839 | GABRG2 | c.1300A>C c.1395A>C (p.Arg465=) c.1358A>C n.553A>C c.990A>C (p.Arg330=) c.1014A>C (p.Arg338=) c.*3896A>C (n.*3896A>C) c.1176A>C c.666A>C (p.Arg222=) c.1275A>C (p.Arg425=) c.1299A>C (p.Arg433=) c.1962A>C (n.1962A>C) c.*1480A>C (n.*1480A>C) c.*499A>C (n.*499A>C) c.1233A>C (p.Arg411=) c.1209A>C (p.Arg403=) n.573A>C n.6246A>C c.737A>C c.1212A>C (p.Arg404=) c.1368A>C (p.Arg456=) c.1419A>C (p.Arg473=) c.*877A>C (n.*877A>C) c.1396A>C (n.1396A>C) c.1290A>C (p.Arg430=) c.*133A>C (n.*133A>C) c.1296A>C (p.Arg432=) c.1272A>C (p.Arg424=) c.1338A>C (p.Arg446=) c.855A>C (p.Arg285=) c.879A>C (p.Arg293=) | |
5 | g.162153239A>G | CA447691840 | GABRG2 | c.1300A>G c.1395A>G (p.Arg465=) c.1358A>G n.553A>G c.990A>G (p.Arg330=) c.1014A>G (p.Arg338=) c.*3896A>G (n.*3896A>G) c.1176A>G c.666A>G (p.Arg222=) c.1275A>G (p.Arg425=) c.1299A>G (p.Arg433=) c.1962A>G (n.1962A>G) c.*1480A>G (n.*1480A>G) c.*499A>G (n.*499A>G) c.1233A>G (p.Arg411=) c.1209A>G (p.Arg403=) n.573A>G n.6246A>G c.737A>G c.1212A>G (p.Arg404=) c.1368A>G (p.Arg456=) c.1419A>G (p.Arg473=) c.*877A>G (n.*877A>G) c.1396A>G (n.1396A>G) c.1290A>G (p.Arg430=) c.*133A>G (n.*133A>G) c.1296A>G (p.Arg432=) c.1272A>G (p.Arg424=) c.1338A>G (p.Arg446=) c.855A>G (p.Arg285=) c.879A>G (p.Arg293=) | |
5 | g.162153239A>T | CA447691841 | GABRG2 | c.1300A>T c.1395A>T (p.Arg465=) c.1358A>T n.553A>T c.990A>T (p.Arg330=) c.1014A>T (p.Arg338=) c.*3896A>T (n.*3896A>T) c.1176A>T c.666A>T (p.Arg222=) c.1275A>T (p.Arg425=) c.1299A>T (p.Arg433=) c.1962A>T (n.1962A>T) c.*1480A>T (n.*1480A>T) c.*499A>T (n.*499A>T) c.1233A>T (p.Arg411=) c.1209A>T (p.Arg403=) n.573A>T n.6246A>T c.737A>T c.1212A>T (p.Arg404=) c.1368A>T (p.Arg456=) c.1419A>T (p.Arg473=) c.*877A>T (n.*877A>T) c.1396A>T (n.1396A>T) c.1290A>T (p.Arg430=) c.*133A>T (n.*133A>T) c.1296A>T (p.Arg432=) c.1272A>T (p.Arg424=) c.1338A>T (p.Arg446=) c.855A>T (p.Arg285=) c.879A>T (p.Arg293=) | |
5 | g.162153240A>C | CA362183728 | GABRG2 | c.1301A>C c.1396A>C (p.Thr466Pro) c.1359A>C n.554A>C c.991A>C (p.Thr331Pro) c.1015A>C (p.Thr339Pro) c.*3897A>C (n.*3897A>C) c.1177A>C c.667A>C (p.Thr223Pro) c.1276A>C (p.Thr426Pro) c.1300A>C (p.Thr434Pro) c.1963A>C (n.1963A>C) c.*1481A>C (n.*1481A>C) c.*500A>C (n.*500A>C) c.1234A>C (p.Thr412Pro) c.1210A>C (p.Thr404Pro) n.574A>C n.6247A>C c.738A>C c.1213A>C (p.Thr405Pro) c.1369A>C (p.Thr457Pro) c.1420A>C (p.Thr474Pro) c.*878A>C (n.*878A>C) c.1397A>C (n.1397A>C) c.1291A>C (p.Thr431Pro) c.*134A>C (n.*134A>C) c.1297A>C (p.Thr433Pro) c.1273A>C (p.Thr425Pro) c.1339A>C (p.Thr447Pro) c.856A>C (p.Thr286Pro) c.880A>C (p.Thr294Pro) | |
5 | g.162153240A>G | CA362183730 | GABRG2 | c.1301A>G c.1396A>G (p.Thr466Ala) c.1359A>G n.554A>G c.991A>G (p.Thr331Ala) c.1015A>G (p.Thr339Ala) c.*3897A>G (n.*3897A>G) c.1177A>G c.667A>G (p.Thr223Ala) c.1276A>G (p.Thr426Ala) c.1300A>G (p.Thr434Ala) c.1963A>G (n.1963A>G) c.*1481A>G (n.*1481A>G) c.*500A>G (n.*500A>G) c.1234A>G (p.Thr412Ala) c.1210A>G (p.Thr404Ala) n.574A>G n.6247A>G c.738A>G c.1213A>G (p.Thr405Ala) c.1369A>G (p.Thr457Ala) c.1420A>G (p.Thr474Ala) c.*878A>G (n.*878A>G) c.1397A>G (n.1397A>G) c.1291A>G (p.Thr431Ala) c.*134A>G (n.*134A>G) c.1297A>G (p.Thr433Ala) c.1273A>G (p.Thr425Ala) c.1339A>G (p.Thr447Ala) c.856A>G (p.Thr286Ala) c.880A>G (p.Thr294Ala) | |
5 | g.162153240A>T | CA362183731 | GABRG2 | c.1301A>T c.1396A>T (p.Thr466Ser) c.1359A>T n.554A>T c.991A>T (p.Thr331Ser) c.1015A>T (p.Thr339Ser) c.*3897A>T (n.*3897A>T) c.1177A>T c.667A>T (p.Thr223Ser) c.1276A>T (p.Thr426Ser) c.1300A>T (p.Thr434Ser) c.1963A>T (n.1963A>T) c.*1481A>T (n.*1481A>T) c.*500A>T (n.*500A>T) c.1234A>T (p.Thr412Ser) c.1210A>T (p.Thr404Ser) n.574A>T n.6247A>T c.738A>T c.1213A>T (p.Thr405Ser) c.1369A>T (p.Thr457Ser) c.1420A>T (p.Thr474Ser) c.*878A>T (n.*878A>T) c.1397A>T (n.1397A>T) c.1291A>T (p.Thr431Ser) c.*134A>T (n.*134A>T) c.1297A>T (p.Thr433Ser) c.1273A>T (p.Thr425Ser) c.1339A>T (p.Thr447Ser) c.856A>T (p.Thr286Ser) c.880A>T (p.Thr294Ser) | |
5 | g.162153241C>A | CA362183734 | GABRG2 | c.1302C>A c.1397C>A (p.Thr466Lys) c.1360C>A n.555C>A c.992C>A (p.Thr331Lys) c.1016C>A (p.Thr339Lys) c.*3898C>A (n.*3898C>A) c.1178C>A c.668C>A (p.Thr223Lys) c.1277C>A (p.Thr426Lys) c.1301C>A (p.Thr434Lys) c.1964C>A (n.1964C>A) c.*1482C>A (n.*1482C>A) c.*501C>A (n.*501C>A) c.1235C>A (p.Thr412Lys) c.1211C>A (p.Thr404Lys) n.575C>A n.6248C>A c.739C>A c.1214C>A (p.Thr405Lys) c.1370C>A (p.Thr457Lys) c.1421C>A (p.Thr474Lys) c.*879C>A (n.*879C>A) c.1398C>A (n.1398C>A) c.1292C>A (p.Thr431Lys) c.*135C>A (n.*135C>A) c.1298C>A (p.Thr433Lys) c.1274C>A (p.Thr425Lys) c.1340C>A (p.Thr447Lys) c.857C>A (p.Thr286Lys) c.881C>A (p.Thr294Lys) | gnomAD v4 |
5 | g.162153241C>G | CA362183735 | GABRG2 | c.1302C>G c.1397C>G (p.Thr466Arg) c.1360C>G n.555C>G c.992C>G (p.Thr331Arg) c.1016C>G (p.Thr339Arg) c.*3898C>G (n.*3898C>G) c.1178C>G c.668C>G (p.Thr223Arg) c.1277C>G (p.Thr426Arg) c.1301C>G (p.Thr434Arg) c.1964C>G (n.1964C>G) c.*1482C>G (n.*1482C>G) c.*501C>G (n.*501C>G) c.1235C>G (p.Thr412Arg) c.1211C>G (p.Thr404Arg) n.575C>G n.6248C>G c.739C>G c.1214C>G (p.Thr405Arg) c.1370C>G (p.Thr457Arg) c.1421C>G (p.Thr474Arg) c.*879C>G (n.*879C>G) c.1398C>G (n.1398C>G) c.1292C>G (p.Thr431Arg) c.*135C>G (n.*135C>G) c.1298C>G (p.Thr433Arg) c.1274C>G (p.Thr425Arg) c.1340C>G (p.Thr447Arg) c.857C>G (p.Thr286Arg) c.881C>G (p.Thr294Arg) | |
5 | g.162153241C>T | CA362183737 | GABRG2 | c.1302C>T c.1397C>T (p.Thr466Ile) c.1360C>T n.555C>T c.992C>T (p.Thr331Ile) c.1016C>T (p.Thr339Ile) c.*3898C>T (n.*3898C>T) c.1178C>T c.668C>T (p.Thr223Ile) c.1277C>T (p.Thr426Ile) c.1301C>T (p.Thr434Ile) c.1964C>T (n.1964C>T) c.*1482C>T (n.*1482C>T) c.*501C>T (n.*501C>T) c.1235C>T (p.Thr412Ile) c.1211C>T (p.Thr404Ile) n.575C>T n.6248C>T c.739C>T c.1214C>T (p.Thr405Ile) c.1370C>T (p.Thr457Ile) c.1421C>T (p.Thr474Ile) c.*879C>T (n.*879C>T) c.1398C>T (n.1398C>T) c.1292C>T (p.Thr431Ile) c.*135C>T (n.*135C>T) c.1298C>T (p.Thr433Ile) c.1274C>T (p.Thr425Ile) c.1340C>T (p.Thr447Ile) c.857C>T (p.Thr286Ile) c.881C>T (p.Thr294Ile) | |
5 | g.162153242A>C | CA447691848 | GABRG2 | c.1303A>C c.1398A>C (p.Thr466=) c.1361A>C n.556A>C c.993A>C (p.Thr331=) c.1017A>C (p.Thr339=) c.*3899A>C (n.*3899A>C) c.1179A>C c.669A>C (p.Thr223=) c.1278A>C (p.Thr426=) c.1302A>C (p.Thr434=) c.1965A>C (n.1965A>C) c.*1483A>C (n.*1483A>C) c.*502A>C (n.*502A>C) c.1236A>C (p.Thr412=) c.1212A>C (p.Thr404=) n.576A>C n.6249A>C c.740A>C c.1215A>C (p.Thr405=) c.1371A>C (p.Thr457=) c.1422A>C (p.Thr474=) c.*880A>C (n.*880A>C) c.1399A>C (n.1399A>C) c.1293A>C (p.Thr431=) c.*136A>C (n.*136A>C) c.1299A>C (p.Thr433=) c.1275A>C (p.Thr425=) c.1341A>C (p.Thr447=) c.858A>C (p.Thr286=) c.882A>C (p.Thr294=) | |
5 | g.162153242A>G | CA447691849 | GABRG2 | c.1303A>G c.1398A>G (p.Thr466=) c.1361A>G n.556A>G c.993A>G (p.Thr331=) c.1017A>G (p.Thr339=) c.*3899A>G (n.*3899A>G) c.1179A>G c.669A>G (p.Thr223=) c.1278A>G (p.Thr426=) c.1302A>G (p.Thr434=) c.1965A>G (n.1965A>G) c.*1483A>G (n.*1483A>G) c.*502A>G (n.*502A>G) c.1236A>G (p.Thr412=) c.1212A>G (p.Thr404=) n.576A>G n.6249A>G c.740A>G c.1215A>G (p.Thr405=) c.1371A>G (p.Thr457=) c.1422A>G (p.Thr474=) c.*880A>G (n.*880A>G) c.1399A>G (n.1399A>G) c.1293A>G (p.Thr431=) c.*136A>G (n.*136A>G) c.1299A>G (p.Thr433=) c.1275A>G (p.Thr425=) c.1341A>G (p.Thr447=) c.858A>G (p.Thr286=) c.882A>G (p.Thr294=) | |
5 | g.162153242A>T | CA447691850 | GABRG2 | c.1303A>T c.1398A>T (p.Thr466=) c.1361A>T n.556A>T c.993A>T (p.Thr331=) c.1017A>T (p.Thr339=) c.*3899A>T (n.*3899A>T) c.1179A>T c.669A>T (p.Thr223=) c.1278A>T (p.Thr426=) c.1302A>T (p.Thr434=) c.1965A>T (n.1965A>T) c.*1483A>T (n.*1483A>T) c.*502A>T (n.*502A>T) c.1236A>T (p.Thr412=) c.1212A>T (p.Thr404=) n.576A>T n.6249A>T c.740A>T c.1215A>T (p.Thr405=) c.1371A>T (p.Thr457=) c.1422A>T (p.Thr474=) c.*880A>T (n.*880A>T) c.1399A>T (n.1399A>T) c.1293A>T (p.Thr431=) c.*136A>T (n.*136A>T) c.1299A>T (p.Thr433=) c.1275A>T (p.Thr425=) c.1341A>T (p.Thr447=) c.858A>T (p.Thr286=) c.882A>T (p.Thr294=) | ClinVar |
5 | g.162153243G>A | CA362183739 | GABRG2 | c.1304G>A c.1399G>A (p.Gly467Arg) c.1362G>A n.557G>A c.994G>A (p.Gly332Arg) c.1018G>A (p.Gly340Arg) c.*3900G>A (n.*3900G>A) c.1180G>A c.670G>A (p.Gly224Arg) c.1279G>A (p.Gly427Arg) c.1303G>A (p.Gly435Arg) c.1966G>A (n.1966G>A) c.*1484G>A (n.*1484G>A) c.*503G>A (n.*503G>A) c.1237G>A (p.Gly413Arg) c.1213G>A (p.Gly405Arg) n.577G>A n.6250G>A c.741G>A c.1216G>A (p.Gly406Arg) c.1372G>A (p.Gly458Arg) c.1423G>A (p.Gly475Arg) c.*881G>A (n.*881G>A) c.1400G>A (n.1400G>A) c.1294G>A (p.Gly432Arg) c.*137G>A (n.*137G>A) c.1300G>A (p.Gly434Arg) c.1276G>A (p.Gly426Arg) c.1342G>A (p.Gly448Arg) c.859G>A (p.Gly287Arg) c.883G>A (p.Gly295Arg) | |
5 | g.162153243G>C | CA362183742 | GABRG2 | c.1304G>C c.1399G>C (p.Gly467Arg) c.1362G>C n.557G>C c.994G>C (p.Gly332Arg) c.1018G>C (p.Gly340Arg) c.*3900G>C (n.*3900G>C) c.1180G>C c.670G>C (p.Gly224Arg) c.1279G>C (p.Gly427Arg) c.1303G>C (p.Gly435Arg) c.1966G>C (n.1966G>C) c.*1484G>C (n.*1484G>C) c.*503G>C (n.*503G>C) c.1237G>C (p.Gly413Arg) c.1213G>C (p.Gly405Arg) n.577G>C n.6250G>C c.741G>C c.1216G>C (p.Gly406Arg) c.1372G>C (p.Gly458Arg) c.1423G>C (p.Gly475Arg) c.*881G>C (n.*881G>C) c.1400G>C (n.1400G>C) c.1294G>C (p.Gly432Arg) c.*137G>C (n.*137G>C) c.1300G>C (p.Gly434Arg) c.1276G>C (p.Gly426Arg) c.1342G>C (p.Gly448Arg) c.859G>C (p.Gly287Arg) c.883G>C (p.Gly295Arg) | |
5 | g.162153243G>T | CA362183741 | GABRG2 | c.1304G>T c.1399G>T (p.Gly467Ter) c.1362G>T n.557G>T c.994G>T (p.Gly332Ter) c.1018G>T (p.Gly340Ter) c.*3900G>T (n.*3900G>T) c.1180G>T c.670G>T (p.Gly224Ter) c.1279G>T (p.Gly427Ter) c.1303G>T (p.Gly435Ter) c.1966G>T (n.1966G>T) c.*1484G>T (n.*1484G>T) c.*503G>T (n.*503G>T) c.1237G>T (p.Gly413Ter) c.1213G>T (p.Gly405Ter) n.577G>T n.6250G>T c.741G>T c.1216G>T (p.Gly406Ter) c.1372G>T (p.Gly458Ter) c.1423G>T (p.Gly475Ter) c.*881G>T (n.*881G>T) c.1400G>T (n.1400G>T) c.1294G>T (p.Gly432Ter) c.*137G>T (n.*137G>T) c.1300G>T (p.Gly434Ter) c.1276G>T (p.Gly426Ter) c.1342G>T (p.Gly448Ter) c.859G>T (p.Gly287Ter) c.883G>T (p.Gly295Ter) | |
5 | g.162153244G>A | CA362183744 | GABRG2 | c.1305G>A c.1400G>A (p.Gly467Glu) c.1363G>A n.558G>A c.995G>A (p.Gly332Glu) c.1019G>A (p.Gly340Glu) c.*3901G>A (n.*3901G>A) c.1181G>A c.671G>A (p.Gly224Glu) c.1280G>A (p.Gly427Glu) c.1304G>A (p.Gly435Glu) c.1967G>A (n.1967G>A) c.*1485G>A (n.*1485G>A) c.*504G>A (n.*504G>A) c.1238G>A (p.Gly413Glu) c.1214G>A (p.Gly405Glu) n.578G>A n.6251G>A c.742G>A c.1217G>A (p.Gly406Glu) c.1373G>A (p.Gly458Glu) c.1424G>A (p.Gly475Glu) c.*882G>A (n.*882G>A) c.1401G>A (n.1401G>A) c.1295G>A (p.Gly432Glu) c.*138G>A (n.*138G>A) c.1301G>A (p.Gly434Glu) c.1277G>A (p.Gly426Glu) c.1343G>A (p.Gly448Glu) c.860G>A (p.Gly287Glu) c.884G>A (p.Gly295Glu) | |
5 | g.162153244G>C | CA362183748 | GABRG2 | c.1305G>C c.1400G>C (p.Gly467Ala) c.1363G>C n.558G>C c.995G>C (p.Gly332Ala) c.1019G>C (p.Gly340Ala) c.*3901G>C (n.*3901G>C) c.1181G>C c.671G>C (p.Gly224Ala) c.1280G>C (p.Gly427Ala) c.1304G>C (p.Gly435Ala) c.1967G>C (n.1967G>C) c.*1485G>C (n.*1485G>C) c.*504G>C (n.*504G>C) c.1238G>C (p.Gly413Ala) c.1214G>C (p.Gly405Ala) n.578G>C n.6251G>C c.742G>C c.1217G>C (p.Gly406Ala) c.1373G>C (p.Gly458Ala) c.1424G>C (p.Gly475Ala) c.*882G>C (n.*882G>C) c.1401G>C (n.1401G>C) c.1295G>C (p.Gly432Ala) c.*138G>C (n.*138G>C) c.1301G>C (p.Gly434Ala) c.1277G>C (p.Gly426Ala) c.1343G>C (p.Gly448Ala) c.860G>C (p.Gly287Ala) c.884G>C (p.Gly295Ala) | ClinVar |
5 | g.162153244G>T | CA362183746 | GABRG2 | c.1305G>T c.1400G>T (p.Gly467Val) c.1363G>T n.558G>T c.995G>T (p.Gly332Val) c.1019G>T (p.Gly340Val) c.*3901G>T (n.*3901G>T) c.1181G>T c.671G>T (p.Gly224Val) c.1280G>T (p.Gly427Val) c.1304G>T (p.Gly435Val) c.1967G>T (n.1967G>T) c.*1485G>T (n.*1485G>T) c.*504G>T (n.*504G>T) c.1238G>T (p.Gly413Val) c.1214G>T (p.Gly405Val) n.578G>T n.6251G>T c.742G>T c.1217G>T (p.Gly406Val) c.1373G>T (p.Gly458Val) c.1424G>T (p.Gly475Val) c.*882G>T (n.*882G>T) c.1401G>T (n.1401G>T) c.1295G>T (p.Gly432Val) c.*138G>T (n.*138G>T) c.1301G>T (p.Gly434Val) c.1277G>T (p.Gly426Val) c.1343G>T (p.Gly448Val) c.860G>T (p.Gly287Val) c.884G>T (p.Gly295Val) | |
5 | g.162153245A>C | CA447691853 | GABRG2 | c.1306A>C c.1401A>C (p.Gly467=) c.1364A>C n.559A>C c.996A>C (p.Gly332=) c.1020A>C (p.Gly340=) c.*3902A>C (n.*3902A>C) c.1182A>C c.672A>C (p.Gly224=) c.1281A>C (p.Gly427=) c.1305A>C (p.Gly435=) c.1968A>C (n.1968A>C) c.*1486A>C (n.*1486A>C) c.*505A>C (n.*505A>C) c.1239A>C (p.Gly413=) c.1215A>C (p.Gly405=) n.579A>C n.6252A>C c.743A>C c.1218A>C (p.Gly406=) c.1374A>C (p.Gly458=) c.1425A>C (p.Gly475=) c.*883A>C (n.*883A>C) c.1402A>C (n.1402A>C) c.1296A>C (p.Gly432=) c.*139A>C (n.*139A>C) c.1302A>C (p.Gly434=) c.1278A>C (p.Gly426=) c.1344A>C (p.Gly448=) c.861A>C (p.Gly287=) c.885A>C (p.Gly295=) | |
5 | g.162153245A>G | CA447691854 | GABRG2 | c.1306A>G c.1401A>G (p.Gly467=) c.1364A>G n.559A>G c.996A>G (p.Gly332=) c.1020A>G (p.Gly340=) c.*3902A>G (n.*3902A>G) c.1182A>G c.672A>G (p.Gly224=) c.1281A>G (p.Gly427=) c.1305A>G (p.Gly435=) c.1968A>G (n.1968A>G) c.*1486A>G (n.*1486A>G) c.*505A>G (n.*505A>G) c.1239A>G (p.Gly413=) c.1215A>G (p.Gly405=) n.579A>G n.6252A>G c.743A>G c.1218A>G (p.Gly406=) c.1374A>G (p.Gly458=) c.1425A>G (p.Gly475=) c.*883A>G (n.*883A>G) c.1402A>G (n.1402A>G) c.1296A>G (p.Gly432=) c.*139A>G (n.*139A>G) c.1302A>G (p.Gly434=) c.1278A>G (p.Gly426=) c.1344A>G (p.Gly448=) c.861A>G (p.Gly287=) c.885A>G (p.Gly295=) | ClinVar dbSNP |
5 | g.162153245A>T | CA447691855 | GABRG2 | c.1306A>T c.1401A>T (p.Gly467=) c.1364A>T n.559A>T c.996A>T (p.Gly332=) c.1020A>T (p.Gly340=) c.*3902A>T (n.*3902A>T) c.1182A>T c.672A>T (p.Gly224=) c.1281A>T (p.Gly427=) c.1305A>T (p.Gly435=) c.1968A>T (n.1968A>T) c.*1486A>T (n.*1486A>T) c.*505A>T (n.*505A>T) c.1239A>T (p.Gly413=) c.1215A>T (p.Gly405=) n.579A>T n.6252A>T c.743A>T c.1218A>T (p.Gly406=) c.1374A>T (p.Gly458=) c.1425A>T (p.Gly475=) c.*883A>T (n.*883A>T) c.1402A>T (n.1402A>T) c.1296A>T (p.Gly432=) c.*139A>T (n.*139A>T) c.1302A>T (p.Gly434=) c.1278A>T (p.Gly426=) c.1344A>T (p.Gly448=) c.861A>T (p.Gly287=) c.885A>T (p.Gly295=) | |
5 | g.162153246G>A | CA3544989 | GABRG2 | c.1307G>A c.1402G>A (p.Ala468Thr) c.1365G>A n.560G>A c.997G>A (p.Ala333Thr) c.1021G>A (p.Ala341Thr) c.*3903G>A (n.*3903G>A) c.1183G>A c.673G>A (p.Ala225Thr) c.1282G>A (p.Ala428Thr) c.1306G>A (p.Ala436Thr) c.1969G>A (n.1969G>A) c.*1487G>A (n.*1487G>A) c.*506G>A (n.*506G>A) c.1240G>A (p.Ala414Thr) c.1216G>A (p.Ala406Thr) n.580G>A n.6253G>A c.744G>A c.1219G>A (p.Ala407Thr) c.1375G>A (p.Ala459Thr) c.1426G>A (p.Ala476Thr) c.*884G>A (n.*884G>A) c.1403G>A (n.1403G>A) c.1297G>A (p.Ala433Thr) c.*140G>A (n.*140G>A) c.1303G>A (p.Ala435Thr) c.1279G>A (p.Ala427Thr) c.1345G>A (p.Ala449Thr) c.862G>A (p.Ala288Thr) c.886G>A (p.Ala296Thr) | dbSNP ExAC gnomAD v3 gnomAD v4 |
5 | g.162153246G>C | CA362183751 | GABRG2 | c.1307G>C c.1402G>C (p.Ala468Pro) c.1365G>C n.560G>C c.997G>C (p.Ala333Pro) c.1021G>C (p.Ala341Pro) c.*3903G>C (n.*3903G>C) c.1183G>C c.673G>C (p.Ala225Pro) c.1282G>C (p.Ala428Pro) c.1306G>C (p.Ala436Pro) c.1969G>C (n.1969G>C) c.*1487G>C (n.*1487G>C) c.*506G>C (n.*506G>C) c.1240G>C (p.Ala414Pro) c.1216G>C (p.Ala406Pro) n.580G>C n.6253G>C c.744G>C c.1219G>C (p.Ala407Pro) c.1375G>C (p.Ala459Pro) c.1426G>C (p.Ala476Pro) c.*884G>C (n.*884G>C) c.1403G>C (n.1403G>C) c.1297G>C (p.Ala433Pro) c.*140G>C (n.*140G>C) c.1303G>C (p.Ala435Pro) c.1279G>C (p.Ala427Pro) c.1345G>C (p.Ala449Pro) c.862G>C (p.Ala288Pro) c.886G>C (p.Ala296Pro) | gnomAD v4 |
5 | g.162153246G= | CA1596382137 | GABRG2 | c.1307G= c.1402G= (p.Ala468=) c.1365G= n.560G= c.997G= (p.Ala333=) c.1021G= (p.Ala341=) c.*3903G= (n.*3903G=) c.1183G= c.673G= (p.Ala225=) c.1282G= (p.Ala428=) c.1306G= (p.Ala436=) c.1969G= (n.1969G=) c.*1487G= (n.*1487G=) c.*506G= (n.*506G=) c.1240G= (p.Ala414=) c.1216G= (p.Ala406=) n.580G= n.6253G= c.744G= c.1219G= (p.Ala407=) c.1375G= (p.Ala459=) c.1426G= (p.Ala476=) c.*884G= (n.*884G=) c.1403G= (n.1403G=) c.1297G= (p.Ala433=) c.*140G= (n.*140G=) c.1303G= (p.Ala435=) c.1279G= (p.Ala427=) c.1345G= (p.Ala449=) c.862G= (p.Ala288=) c.886G= (p.Ala296=) | |
5 | g.162153246G>T | CA362183750 | GABRG2 | c.1307G>T c.1402G>T (p.Ala468Ser) c.1365G>T n.560G>T c.997G>T (p.Ala333Ser) c.1021G>T (p.Ala341Ser) c.*3903G>T (n.*3903G>T) c.1183G>T c.673G>T (p.Ala225Ser) c.1282G>T (p.Ala428Ser) c.1306G>T (p.Ala436Ser) c.1969G>T (n.1969G>T) c.*1487G>T (n.*1487G>T) c.*506G>T (n.*506G>T) c.1240G>T (p.Ala414Ser) c.1216G>T (p.Ala406Ser) n.580G>T n.6253G>T c.744G>T c.1219G>T (p.Ala407Ser) c.1375G>T (p.Ala459Ser) c.1426G>T (p.Ala476Ser) c.*884G>T (n.*884G>T) c.1403G>T (n.1403G>T) c.1297G>T (p.Ala433Ser) c.*140G>T (n.*140G>T) c.1303G>T (p.Ala435Ser) c.1279G>T (p.Ala427Ser) c.1345G>T (p.Ala449Ser) c.862G>T (p.Ala288Ser) c.886G>T (p.Ala296Ser) | gnomAD v4 |
5 | g.162153247C>A | CA362183753 | GABRG2 | c.1308C>A c.1403C>A (p.Ala468Asp) c.1366C>A n.561C>A c.998C>A (p.Ala333Asp) c.1022C>A (p.Ala341Asp) c.*3904C>A (n.*3904C>A) c.1184C>A c.674C>A (p.Ala225Asp) c.1283C>A (p.Ala428Asp) c.1307C>A (p.Ala436Asp) c.1970C>A (n.1970C>A) c.*1488C>A (n.*1488C>A) c.*507C>A (n.*507C>A) c.1241C>A (p.Ala414Asp) c.1217C>A (p.Ala406Asp) n.581C>A n.6254C>A c.745C>A c.1220C>A (p.Ala407Asp) c.1376C>A (p.Ala459Asp) c.1427C>A (p.Ala476Asp) c.*885C>A (n.*885C>A) c.1404C>A (n.1404C>A) c.1298C>A (p.Ala433Asp) c.*141C>A (n.*141C>A) c.1304C>A (p.Ala435Asp) c.1280C>A (p.Ala427Asp) c.1346C>A (p.Ala449Asp) c.863C>A (p.Ala288Asp) c.887C>A (p.Ala296Asp) | |
5 | g.162153247C>G | CA362183754 | GABRG2 | c.1308C>G c.1403C>G (p.Ala468Gly) c.1366C>G n.561C>G c.998C>G (p.Ala333Gly) c.1022C>G (p.Ala341Gly) c.*3904C>G (n.*3904C>G) c.1184C>G c.674C>G (p.Ala225Gly) c.1283C>G (p.Ala428Gly) c.1307C>G (p.Ala436Gly) c.1970C>G (n.1970C>G) c.*1488C>G (n.*1488C>G) c.*507C>G (n.*507C>G) c.1241C>G (p.Ala414Gly) c.1217C>G (p.Ala406Gly) n.581C>G n.6254C>G c.745C>G c.1220C>G (p.Ala407Gly) c.1376C>G (p.Ala459Gly) c.1427C>G (p.Ala476Gly) c.*885C>G (n.*885C>G) c.1404C>G (n.1404C>G) c.1298C>G (p.Ala433Gly) c.*141C>G (n.*141C>G) c.1304C>G (p.Ala435Gly) c.1280C>G (p.Ala427Gly) c.1346C>G (p.Ala449Gly) c.863C>G (p.Ala288Gly) c.887C>G (p.Ala296Gly) | |
5 | g.162153247C>T | CA362183756 | GABRG2 | c.1308C>T c.1403C>T (p.Ala468Val) c.1366C>T n.561C>T c.998C>T (p.Ala333Val) c.1022C>T (p.Ala341Val) c.*3904C>T (n.*3904C>T) c.1184C>T c.674C>T (p.Ala225Val) c.1283C>T (p.Ala428Val) c.1307C>T (p.Ala436Val) c.1970C>T (n.1970C>T) c.*1488C>T (n.*1488C>T) c.*507C>T (n.*507C>T) c.1241C>T (p.Ala414Val) c.1217C>T (p.Ala406Val) n.581C>T n.6254C>T c.745C>T c.1220C>T (p.Ala407Val) c.1376C>T (p.Ala459Val) c.1427C>T (p.Ala476Val) c.*885C>T (n.*885C>T) c.1404C>T (n.1404C>T) c.1298C>T (p.Ala433Val) c.*141C>T (n.*141C>T) c.1304C>T (p.Ala435Val) c.1280C>T (p.Ala427Val) c.1346C>T (p.Ala449Val) c.863C>T (p.Ala288Val) c.887C>T (p.Ala296Val) | |
5 | g.162153248T>A | CA447691860 | GABRG2 | c.1309T>A c.1404T>A (p.Ala468=) c.1367T>A n.562T>A c.999T>A (p.Ala333=) c.1023T>A (p.Ala341=) c.*3905T>A (n.*3905T>A) c.1185T>A c.675T>A (p.Ala225=) c.1284T>A (p.Ala428=) c.1308T>A (p.Ala436=) c.1971T>A (n.1971T>A) c.*1489T>A (n.*1489T>A) c.*508T>A (n.*508T>A) c.1242T>A (p.Ala414=) c.1218T>A (p.Ala406=) n.582T>A n.6255T>A c.746T>A c.1221T>A (p.Ala407=) c.1377T>A (p.Ala459=) c.1428T>A (p.Ala476=) c.*886T>A (n.*886T>A) c.1405T>A (n.1405T>A) c.1299T>A (p.Ala433=) c.*142T>A (n.*142T>A) c.1305T>A (p.Ala435=) c.1281T>A (p.Ala427=) c.1347T>A (p.Ala449=) c.864T>A (p.Ala288=) c.888T>A (p.Ala296=) | |
5 | g.162153248T>C | CA447691861 | GABRG2 | c.1309T>C c.1404T>C (p.Ala468=) c.1367T>C n.562T>C c.999T>C (p.Ala333=) c.1023T>C (p.Ala341=) c.*3905T>C (n.*3905T>C) c.1185T>C c.675T>C (p.Ala225=) c.1284T>C (p.Ala428=) c.1308T>C (p.Ala436=) c.1971T>C (n.1971T>C) c.*1489T>C (n.*1489T>C) c.*508T>C (n.*508T>C) c.1242T>C (p.Ala414=) c.1218T>C (p.Ala406=) n.582T>C n.6255T>C c.746T>C c.1221T>C (p.Ala407=) c.1377T>C (p.Ala459=) c.1428T>C (p.Ala476=) c.*886T>C (n.*886T>C) c.1405T>C (n.1405T>C) c.1299T>C (p.Ala433=) c.*142T>C (n.*142T>C) c.1305T>C (p.Ala435=) c.1281T>C (p.Ala427=) c.1347T>C (p.Ala449=) c.864T>C (p.Ala288=) c.888T>C (p.Ala296=) | |
5 | g.162153248T>G | CA447691862 | GABRG2 | c.1309T>G c.1404T>G (p.Ala468=) c.1367T>G n.562T>G c.999T>G (p.Ala333=) c.1023T>G (p.Ala341=) c.*3905T>G (n.*3905T>G) c.1185T>G c.675T>G (p.Ala225=) c.1284T>G (p.Ala428=) c.1308T>G (p.Ala436=) c.1971T>G (n.1971T>G) c.*1489T>G (n.*1489T>G) c.*508T>G (n.*508T>G) c.1242T>G (p.Ala414=) c.1218T>G (p.Ala406=) n.582T>G n.6255T>G c.746T>G c.1221T>G (p.Ala407=) c.1377T>G (p.Ala459=) c.1428T>G (p.Ala476=) c.*886T>G (n.*886T>G) c.1405T>G (n.1405T>G) c.1299T>G (p.Ala433=) c.*142T>G (n.*142T>G) c.1305T>G (p.Ala435=) c.1281T>G (p.Ala427=) c.1347T>G (p.Ala449=) c.864T>G (p.Ala288=) c.888T>G (p.Ala296=) | |
5 | g.162153249T>A | CA362183758 | GABRG2 | c.1310T>A c.1405T>A (p.Trp469Arg) c.1368T>A n.563T>A c.1000T>A (p.Trp334Arg) c.1024T>A (p.Trp342Arg) c.*3906T>A (n.*3906T>A) c.1186T>A c.676T>A (p.Trp226Arg) c.1285T>A (p.Trp429Arg) c.1309T>A (p.Trp437Arg) c.1972T>A (n.1972T>A) c.*1490T>A (n.*1490T>A) c.*509T>A (n.*509T>A) c.1243T>A (p.Trp415Arg) c.1219T>A (p.Trp407Arg) n.583T>A n.6256T>A c.747T>A c.1222T>A (p.Trp408Arg) c.1378T>A (p.Trp460Arg) c.1429T>A (p.Trp477Arg) c.*887T>A (n.*887T>A) c.1406T>A (n.1406T>A) c.1300T>A (p.Trp434Arg) c.*143T>A (n.*143T>A) c.1306T>A (p.Trp436Arg) c.1282T>A (p.Trp428Arg) c.1348T>A (p.Trp450Arg) c.865T>A (p.Trp289Arg) c.889T>A (p.Trp297Arg) | |
5 | g.162153249T>C | CA362183759 | GABRG2 | c.1310T>C c.1405T>C (p.Trp469Arg) c.1368T>C n.563T>C c.1000T>C (p.Trp334Arg) c.1024T>C (p.Trp342Arg) c.*3906T>C (n.*3906T>C) c.1186T>C c.676T>C (p.Trp226Arg) c.1285T>C (p.Trp429Arg) c.1309T>C (p.Trp437Arg) c.1972T>C (n.1972T>C) c.*1490T>C (n.*1490T>C) c.*509T>C (n.*509T>C) c.1243T>C (p.Trp415Arg) c.1219T>C (p.Trp407Arg) n.583T>C n.6256T>C c.747T>C c.1222T>C (p.Trp408Arg) c.1378T>C (p.Trp460Arg) c.1429T>C (p.Trp477Arg) c.*887T>C (n.*887T>C) c.1406T>C (n.1406T>C) c.1300T>C (p.Trp434Arg) c.*143T>C (n.*143T>C) c.1306T>C (p.Trp436Arg) c.1282T>C (p.Trp428Arg) c.1348T>C (p.Trp450Arg) c.865T>C (p.Trp289Arg) c.889T>C (p.Trp297Arg) | |
5 | g.162153249T>G | CA362183762 | GABRG2 | c.1310T>G c.1405T>G (p.Trp469Gly) c.1368T>G n.563T>G c.1000T>G (p.Trp334Gly) c.1024T>G (p.Trp342Gly) c.*3906T>G (n.*3906T>G) c.1186T>G c.676T>G (p.Trp226Gly) c.1285T>G (p.Trp429Gly) c.1309T>G (p.Trp437Gly) c.1972T>G (n.1972T>G) c.*1490T>G (n.*1490T>G) c.*509T>G (n.*509T>G) c.1243T>G (p.Trp415Gly) c.1219T>G (p.Trp407Gly) n.583T>G n.6256T>G c.747T>G c.1222T>G (p.Trp408Gly) c.1378T>G (p.Trp460Gly) c.1429T>G (p.Trp477Gly) c.*887T>G (n.*887T>G) c.1406T>G (n.1406T>G) c.1300T>G (p.Trp434Gly) c.*143T>G (n.*143T>G) c.1306T>G (p.Trp436Gly) c.1282T>G (p.Trp428Gly) c.1348T>G (p.Trp450Gly) c.865T>G (p.Trp289Gly) c.889T>G (p.Trp297Gly) | |
5 | g.162153250G>A | CA362183763 | GABRG2 | c.1311G>A c.1406G>A (p.Trp469Ter) c.1369G>A n.564G>A c.1001G>A (p.Trp334Ter) c.1025G>A (p.Trp342Ter) c.*3907G>A (n.*3907G>A) c.1187G>A c.677G>A (p.Trp226Ter) c.1286G>A (p.Trp429Ter) c.1310G>A (p.Trp437Ter) c.1973G>A (n.1973G>A) c.*1491G>A (n.*1491G>A) c.*510G>A (n.*510G>A) c.1244G>A (p.Trp415Ter) c.1220G>A (p.Trp407Ter) n.584G>A n.6257G>A c.748G>A c.1223G>A (p.Trp408Ter) c.1379G>A (p.Trp460Ter) c.1430G>A (p.Trp477Ter) c.*888G>A (n.*888G>A) c.1407G>A (n.1407G>A) c.1301G>A (p.Trp434Ter) c.*144G>A (n.*144G>A) c.1307G>A (p.Trp436Ter) c.1283G>A (p.Trp428Ter) c.1349G>A (p.Trp450Ter) c.866G>A (p.Trp289Ter) c.890G>A (p.Trp297Ter) | ClinVar |
5 | g.162153250G>C | CA362183764 | GABRG2 | c.1311G>C c.1406G>C (p.Trp469Ser) c.1369G>C n.564G>C c.1001G>C (p.Trp334Ser) c.1025G>C (p.Trp342Ser) c.*3907G>C (n.*3907G>C) c.1187G>C c.677G>C (p.Trp226Ser) c.1286G>C (p.Trp429Ser) c.1310G>C (p.Trp437Ser) c.1973G>C (n.1973G>C) c.*1491G>C (n.*1491G>C) c.*510G>C (n.*510G>C) c.1244G>C (p.Trp415Ser) c.1220G>C (p.Trp407Ser) n.584G>C n.6257G>C c.748G>C c.1223G>C (p.Trp408Ser) c.1379G>C (p.Trp460Ser) c.1430G>C (p.Trp477Ser) c.*888G>C (n.*888G>C) c.1407G>C (n.1407G>C) c.1301G>C (p.Trp434Ser) c.*144G>C (n.*144G>C) c.1307G>C (p.Trp436Ser) c.1283G>C (p.Trp428Ser) c.1349G>C (p.Trp450Ser) c.866G>C (p.Trp289Ser) c.890G>C (p.Trp297Ser) | |
5 | g.162153250G>T | CA362183765 | GABRG2 | c.1311G>T c.1406G>T (p.Trp469Leu) c.1369G>T n.564G>T c.1001G>T (p.Trp334Leu) c.1025G>T (p.Trp342Leu) c.*3907G>T (n.*3907G>T) c.1187G>T c.677G>T (p.Trp226Leu) c.1286G>T (p.Trp429Leu) c.1310G>T (p.Trp437Leu) c.1973G>T (n.1973G>T) c.*1491G>T (n.*1491G>T) c.*510G>T (n.*510G>T) c.1244G>T (p.Trp415Leu) c.1220G>T (p.Trp407Leu) n.584G>T n.6257G>T c.748G>T c.1223G>T (p.Trp408Leu) c.1379G>T (p.Trp460Leu) c.1430G>T (p.Trp477Leu) c.*888G>T (n.*888G>T) c.1407G>T (n.1407G>T) c.1301G>T (p.Trp434Leu) c.*144G>T (n.*144G>T) c.1307G>T (p.Trp436Leu) c.1283G>T (p.Trp428Leu) c.1349G>T (p.Trp450Leu) c.866G>T (p.Trp289Leu) c.890G>T (p.Trp297Leu) | |
5 | g.162153251G>A | CA362183767 | GABRG2 | c.1312G>A c.1407G>A (p.Trp469Ter) c.1370G>A n.565G>A c.1002G>A (p.Trp334Ter) c.1026G>A (p.Trp342Ter) c.*3908G>A (n.*3908G>A) c.1188G>A c.678G>A (p.Trp226Ter) c.1287G>A (p.Trp429Ter) c.1311G>A (p.Trp437Ter) c.1974G>A (n.1974G>A) c.*1492G>A (n.*1492G>A) c.*511G>A (n.*511G>A) c.1245G>A (p.Trp415Ter) c.1221G>A (p.Trp407Ter) n.585G>A n.6258G>A c.749G>A c.1224G>A (p.Trp408Ter) c.1380G>A (p.Trp460Ter) c.1431G>A (p.Trp477Ter) c.*889G>A (n.*889G>A) c.1408G>A (n.1408G>A) c.1302G>A (p.Trp434Ter) c.*145G>A (n.*145G>A) c.1308G>A (p.Trp436Ter) c.1284G>A (p.Trp428Ter) c.1350G>A (p.Trp450Ter) c.867G>A (p.Trp289Ter) c.891G>A (p.Trp297Ter) | |
5 | g.162153251G>C | CA362183768 | GABRG2 | c.1312G>C c.1407G>C (p.Trp469Cys) c.1370G>C n.565G>C c.1002G>C (p.Trp334Cys) c.1026G>C (p.Trp342Cys) c.*3908G>C (n.*3908G>C) c.1188G>C c.678G>C (p.Trp226Cys) c.1287G>C (p.Trp429Cys) c.1311G>C (p.Trp437Cys) c.1974G>C (n.1974G>C) c.*1492G>C (n.*1492G>C) c.*511G>C (n.*511G>C) c.1245G>C (p.Trp415Cys) c.1221G>C (p.Trp407Cys) n.585G>C n.6258G>C c.749G>C c.1224G>C (p.Trp408Cys) c.1380G>C (p.Trp460Cys) c.1431G>C (p.Trp477Cys) c.*889G>C (n.*889G>C) c.1408G>C (n.1408G>C) c.1302G>C (p.Trp434Cys) c.*145G>C (n.*145G>C) c.1308G>C (p.Trp436Cys) c.1284G>C (p.Trp428Cys) c.1350G>C (p.Trp450Cys) c.867G>C (p.Trp289Cys) c.891G>C (p.Trp297Cys) | |
5 | g.162153251G>T | CA362183770 | GABRG2 | c.1312G>T c.1407G>T (p.Trp469Cys) c.1370G>T n.565G>T c.1002G>T (p.Trp334Cys) c.1026G>T (p.Trp342Cys) c.*3908G>T (n.*3908G>T) c.1188G>T c.678G>T (p.Trp226Cys) c.1287G>T (p.Trp429Cys) c.1311G>T (p.Trp437Cys) c.1974G>T (n.1974G>T) c.*1492G>T (n.*1492G>T) c.*511G>T (n.*511G>T) c.1245G>T (p.Trp415Cys) c.1221G>T (p.Trp407Cys) n.585G>T n.6258G>T c.749G>T c.1224G>T (p.Trp408Cys) c.1380G>T (p.Trp460Cys) c.1431G>T (p.Trp477Cys) c.*889G>T (n.*889G>T) c.1408G>T (n.1408G>T) c.1302G>T (p.Trp434Cys) c.*145G>T (n.*145G>T) c.1308G>T (p.Trp436Cys) c.1284G>T (p.Trp428Cys) c.1350G>T (p.Trp450Cys) c.867G>T (p.Trp289Cys) c.891G>T (p.Trp297Cys) | |
5 | g.162153252A>C | CA447691874 | GABRG2 | c.1313A>C c.1408A>C (p.Arg470=) c.1371A>C n.566A>C c.1003A>C (p.Arg335=) c.1027A>C (p.Arg343=) c.*3909A>C (n.*3909A>C) c.1189A>C c.679A>C (p.Arg227=) c.1288A>C (p.Arg430=) c.1312A>C (p.Arg438=) c.1975A>C (n.1975A>C) c.*1493A>C (n.*1493A>C) c.*512A>C (n.*512A>C) c.1246A>C (p.Arg416=) c.1222A>C (p.Arg408=) n.586A>C n.6259A>C c.750A>C c.1225A>C (p.Arg409=) c.1381A>C (p.Arg461=) c.1432A>C (p.Arg478=) c.*890A>C (n.*890A>C) c.1409A>C (n.1409A>C) c.1303A>C (p.Arg435=) c.*146A>C (n.*146A>C) c.1309A>C (p.Arg437=) c.1285A>C (p.Arg429=) c.1351A>C (p.Arg451=) c.868A>C (p.Arg290=) c.892A>C (p.Arg298=) | |
5 | g.162153252A>G | CA362183772 | GABRG2 | c.1313A>G c.1408A>G (p.Arg470Gly) c.1371A>G n.566A>G c.1003A>G (p.Arg335Gly) c.1027A>G (p.Arg343Gly) c.*3909A>G (n.*3909A>G) c.1189A>G c.679A>G (p.Arg227Gly) c.1288A>G (p.Arg430Gly) c.1312A>G (p.Arg438Gly) c.1975A>G (n.1975A>G) c.*1493A>G (n.*1493A>G) c.*512A>G (n.*512A>G) c.1246A>G (p.Arg416Gly) c.1222A>G (p.Arg408Gly) n.586A>G n.6259A>G c.750A>G c.1225A>G (p.Arg409Gly) c.1381A>G (p.Arg461Gly) c.1432A>G (p.Arg478Gly) c.*890A>G (n.*890A>G) c.1409A>G (n.1409A>G) c.1303A>G (p.Arg435Gly) c.*146A>G (n.*146A>G) c.1309A>G (p.Arg437Gly) c.1285A>G (p.Arg429Gly) c.1351A>G (p.Arg451Gly) c.868A>G (p.Arg290Gly) c.892A>G (p.Arg298Gly) | |
5 | g.162153252A>T | CA362183773 | GABRG2 | c.1313A>T c.1408A>T (p.Arg470Ter) c.1371A>T n.566A>T c.1003A>T (p.Arg335Ter) c.1027A>T (p.Arg343Ter) c.*3909A>T (n.*3909A>T) c.1189A>T c.679A>T (p.Arg227Ter) c.1288A>T (p.Arg430Ter) c.1312A>T (p.Arg438Ter) c.1975A>T (n.1975A>T) c.*1493A>T (n.*1493A>T) c.*512A>T (n.*512A>T) c.1246A>T (p.Arg416Ter) c.1222A>T (p.Arg408Ter) n.586A>T n.6259A>T c.750A>T c.1225A>T (p.Arg409Ter) c.1381A>T (p.Arg461Ter) c.1432A>T (p.Arg478Ter) c.*890A>T (n.*890A>T) c.1409A>T (n.1409A>T) c.1303A>T (p.Arg435Ter) c.*146A>T (n.*146A>T) c.1309A>T (p.Arg437Ter) c.1285A>T (p.Arg429Ter) c.1351A>T (p.Arg451Ter) c.868A>T (p.Arg290Ter) c.892A>T (p.Arg298Ter) | |
5 | g.162153253G>A | CA314750 | GABRG2 | c.1314G>A c.1409G>A (p.Arg470Lys) c.1372G>A n.567G>A c.1004G>A (p.Arg335Lys) c.1028G>A (p.Arg343Lys) c.*3910G>A (n.*3910G>A) c.1190G>A c.680G>A (p.Arg227Lys) c.1289G>A (p.Arg430Lys) c.1313G>A (p.Arg438Lys) c.1976G>A (n.1976G>A) c.*1494G>A (n.*1494G>A) c.*513G>A (n.*513G>A) c.1247G>A (p.Arg416Lys) c.1223G>A (p.Arg408Lys) n.587G>A n.6260G>A c.751G>A c.1226G>A (p.Arg409Lys) c.1382G>A (p.Arg461Lys) c.1433G>A (p.Arg478Lys) c.*891G>A (n.*891G>A) c.1410G>A (n.1410G>A) c.1304G>A (p.Arg435Lys) c.*147G>A (n.*147G>A) c.1310G>A (p.Arg437Lys) c.1286G>A (p.Arg429Lys) c.1352G>A (p.Arg451Lys) c.869G>A (p.Arg290Lys) c.893G>A (p.Arg298Lys) | ClinVar dbSNP |
5 | g.162153253G>C | CA362183776 | GABRG2 | c.1314G>C c.1409G>C (p.Arg470Thr) c.1372G>C n.567G>C c.1004G>C (p.Arg335Thr) c.1028G>C (p.Arg343Thr) c.*3910G>C (n.*3910G>C) c.1190G>C c.680G>C (p.Arg227Thr) c.1289G>C (p.Arg430Thr) c.1313G>C (p.Arg438Thr) c.1976G>C (n.1976G>C) c.*1494G>C (n.*1494G>C) c.*513G>C (n.*513G>C) c.1247G>C (p.Arg416Thr) c.1223G>C (p.Arg408Thr) n.587G>C n.6260G>C c.751G>C c.1226G>C (p.Arg409Thr) c.1382G>C (p.Arg461Thr) c.1433G>C (p.Arg478Thr) c.*891G>C (n.*891G>C) c.1410G>C (n.1410G>C) c.1304G>C (p.Arg435Thr) c.*147G>C (n.*147G>C) c.1310G>C (p.Arg437Thr) c.1286G>C (p.Arg429Thr) c.1352G>C (p.Arg451Thr) c.869G>C (p.Arg290Thr) c.893G>C (p.Arg298Thr) | |
5 | g.162153253G= | CA1596382141 | GABRG2 | c.1314G= c.1409G= (p.Arg470=) c.1372G= n.567G= c.1004G= (p.Arg335=) c.1028G= (p.Arg343=) c.*3910G= (n.*3910G=) c.1190G= c.680G= (p.Arg227=) c.1289G= (p.Arg430=) c.1313G= (p.Arg438=) c.1976G= (n.1976G=) c.*1494G= (n.*1494G=) c.*513G= (n.*513G=) c.1247G= (p.Arg416=) c.1223G= (p.Arg408=) n.587G= n.6260G= c.751G= c.1226G= (p.Arg409=) c.1382G= (p.Arg461=) c.1433G= (p.Arg478=) c.*891G= (n.*891G=) c.1410G= (n.1410G=) c.1304G= (p.Arg435=) c.*147G= (n.*147G=) c.1310G= (p.Arg437=) c.1286G= (p.Arg429=) c.1352G= (p.Arg451=) c.869G= (p.Arg290=) c.893G= (p.Arg298=) | |
5 | g.162153253G>T | CA362183778 | GABRG2 | c.1314G>T c.1409G>T (p.Arg470Ile) c.1372G>T n.567G>T c.1004G>T (p.Arg335Ile) c.1028G>T (p.Arg343Ile) c.*3910G>T (n.*3910G>T) c.1190G>T c.680G>T (p.Arg227Ile) c.1289G>T (p.Arg430Ile) c.1313G>T (p.Arg438Ile) c.1976G>T (n.1976G>T) c.*1494G>T (n.*1494G>T) c.*513G>T (n.*513G>T) c.1247G>T (p.Arg416Ile) c.1223G>T (p.Arg408Ile) n.587G>T n.6260G>T c.751G>T c.1226G>T (p.Arg409Ile) c.1382G>T (p.Arg461Ile) c.1433G>T (p.Arg478Ile) c.*891G>T (n.*891G>T) c.1410G>T (n.1410G>T) c.1304G>T (p.Arg435Ile) c.*147G>T (n.*147G>T) c.1310G>T (p.Arg437Ile) c.1286G>T (p.Arg429Ile) c.1352G>T (p.Arg451Ile) c.869G>T (p.Arg290Ile) c.893G>T (p.Arg298Ile) | |
5 | g.162153254A>C | CA362183779 | GABRG2 | c.1315A>C c.1410A>C (p.Arg470Ser) c.1373A>C n.568A>C c.1005A>C (p.Arg335Ser) c.1029A>C (p.Arg343Ser) c.*3911A>C (n.*3911A>C) c.1191A>C c.681A>C (p.Arg227Ser) c.1290A>C (p.Arg430Ser) c.1314A>C (p.Arg438Ser) c.1977A>C (n.1977A>C) c.*1495A>C (n.*1495A>C) c.*514A>C (n.*514A>C) c.1248A>C (p.Arg416Ser) c.1224A>C (p.Arg408Ser) n.588A>C n.6261A>C c.752A>C c.1227A>C (p.Arg409Ser) c.1383A>C (p.Arg461Ser) c.1434A>C (p.Arg478Ser) c.*892A>C (n.*892A>C) c.1411A>C (n.1411A>C) c.1305A>C (p.Arg435Ser) c.*148A>C (n.*148A>C) c.1311A>C (p.Arg437Ser) c.1287A>C (p.Arg429Ser) c.1353A>C (p.Arg451Ser) c.870A>C (p.Arg290Ser) c.894A>C (p.Arg298Ser) | |
5 | g.162153254A>G | CA447691884 | GABRG2 | c.1315A>G c.1410A>G (p.Arg470=) c.1373A>G n.568A>G c.1005A>G (p.Arg335=) c.1029A>G (p.Arg343=) c.*3911A>G (n.*3911A>G) c.1191A>G c.681A>G (p.Arg227=) c.1290A>G (p.Arg430=) c.1314A>G (p.Arg438=) c.1977A>G (n.1977A>G) c.*1495A>G (n.*1495A>G) c.*514A>G (n.*514A>G) c.1248A>G (p.Arg416=) c.1224A>G (p.Arg408=) n.588A>G n.6261A>G c.752A>G c.1227A>G (p.Arg409=) c.1383A>G (p.Arg461=) c.1434A>G (p.Arg478=) c.*892A>G (n.*892A>G) c.1411A>G (n.1411A>G) c.1305A>G (p.Arg435=) c.*148A>G (n.*148A>G) c.1311A>G (p.Arg437=) c.1287A>G (p.Arg429=) c.1353A>G (p.Arg451=) c.870A>G (p.Arg290=) c.894A>G (p.Arg298=) | ClinVar gnomAD v4 |
5 | g.162153254A>T | CA362183781 | GABRG2 | c.1315A>T c.1410A>T (p.Arg470Ser) c.1373A>T n.568A>T c.1005A>T (p.Arg335Ser) c.1029A>T (p.Arg343Ser) c.*3911A>T (n.*3911A>T) c.1191A>T c.681A>T (p.Arg227Ser) c.1290A>T (p.Arg430Ser) c.1314A>T (p.Arg438Ser) c.1977A>T (n.1977A>T) c.*1495A>T (n.*1495A>T) c.*514A>T (n.*514A>T) c.1248A>T (p.Arg416Ser) c.1224A>T (p.Arg408Ser) n.588A>T n.6261A>T c.752A>T c.1227A>T (p.Arg409Ser) c.1383A>T (p.Arg461Ser) c.1434A>T (p.Arg478Ser) c.*892A>T (n.*892A>T) c.1411A>T (n.1411A>T) c.1305A>T (p.Arg435Ser) c.*148A>T (n.*148A>T) c.1311A>T (p.Arg437Ser) c.1287A>T (p.Arg429Ser) c.1353A>T (p.Arg451Ser) c.870A>T (p.Arg290Ser) c.894A>T (p.Arg298Ser) | |
5 | g.162153255C>A | CA362183783 | GABRG2 | c.1316C>A c.1411C>A (p.His471Asn) c.1374C>A n.569C>A c.1006C>A (p.His336Asn) c.1030C>A (p.His344Asn) c.*3912C>A (n.*3912C>A) c.1192C>A c.682C>A (p.His228Asn) c.1291C>A (p.His431Asn) c.1315C>A (p.His439Asn) c.1978C>A (n.1978C>A) c.*1496C>A (n.*1496C>A) c.*515C>A (n.*515C>A) c.1249C>A (p.His417Asn) c.1225C>A (p.His409Asn) n.589C>A n.6262C>A c.753C>A c.1228C>A (p.His410Asn) c.1384C>A (p.His462Asn) c.1435C>A (p.His479Asn) c.*893C>A (n.*893C>A) c.1412C>A (n.1412C>A) c.1306C>A (p.His436Asn) c.*149C>A (n.*149C>A) c.1312C>A (p.His438Asn) c.1288C>A (p.His430Asn) c.1354C>A (p.His452Asn) c.871C>A (p.His291Asn) c.895C>A (p.His299Asn) | |
5 | g.162153255C>G | CA362183784 | GABRG2 | c.1316C>G c.1411C>G (p.His471Asp) c.1374C>G n.569C>G c.1006C>G (p.His336Asp) c.1030C>G (p.His344Asp) c.*3912C>G (n.*3912C>G) c.1192C>G c.682C>G (p.His228Asp) c.1291C>G (p.His431Asp) c.1315C>G (p.His439Asp) c.1978C>G (n.1978C>G) c.*1496C>G (n.*1496C>G) c.*515C>G (n.*515C>G) c.1249C>G (p.His417Asp) c.1225C>G (p.His409Asp) n.589C>G n.6262C>G c.753C>G c.1228C>G (p.His410Asp) c.1384C>G (p.His462Asp) c.1435C>G (p.His479Asp) c.*893C>G (n.*893C>G) c.1412C>G (n.1412C>G) c.1306C>G (p.His436Asp) c.*149C>G (n.*149C>G) c.1312C>G (p.His438Asp) c.1288C>G (p.His430Asp) c.1354C>G (p.His452Asp) c.871C>G (p.His291Asp) c.895C>G (p.His299Asp) | |
5 | g.162153255C>T | CA362183786 | GABRG2 | c.1316C>T c.1411C>T (p.His471Tyr) c.1374C>T n.569C>T c.1006C>T (p.His336Tyr) c.1030C>T (p.His344Tyr) c.*3912C>T (n.*3912C>T) c.1192C>T c.682C>T (p.His228Tyr) c.1291C>T (p.His431Tyr) c.1315C>T (p.His439Tyr) c.1978C>T (n.1978C>T) c.*1496C>T (n.*1496C>T) c.*515C>T (n.*515C>T) c.1249C>T (p.His417Tyr) c.1225C>T (p.His409Tyr) n.589C>T n.6262C>T c.753C>T c.1228C>T (p.His410Tyr) c.1384C>T (p.His462Tyr) c.1435C>T (p.His479Tyr) c.*893C>T (n.*893C>T) c.1412C>T (n.1412C>T) c.1306C>T (p.His436Tyr) c.*149C>T (n.*149C>T) c.1312C>T (p.His438Tyr) c.1288C>T (p.His430Tyr) c.1354C>T (p.His452Tyr) c.871C>T (p.His291Tyr) c.895C>T (p.His299Tyr) | gnomAD v4 |
5 | g.162153256A= | CA1596382145 | GABRG2 | c.1317A= c.1412A= (p.His471=) c.1375A= n.570A= c.1007A= (p.His336=) c.1031A= (p.His344=) c.*3913A= (n.*3913A=) c.1193A= c.683A= (p.His228=) c.1292A= (p.His431=) c.1316A= (p.His439=) c.1979A= (n.1979A=) c.*1497A= (n.*1497A=) c.*516A= (n.*516A=) c.1250A= (p.His417=) c.1226A= (p.His409=) n.590A= n.6263A= c.754A= c.1229A= (p.His410=) c.1385A= (p.His462=) c.1436A= (p.His479=) c.*894A= (n.*894A=) c.1413A= (n.1413A=) c.1307A= (p.His436=) c.*150A= (n.*150A=) c.1313A= (p.His438=) c.1289A= (p.His430=) c.1355A= (p.His452=) c.872A= (p.His291=) c.896A= (p.His299=) | |
5 | g.162153256A>C | CA362183788 | GABRG2 | c.1317A>C c.1412A>C (p.His471Pro) c.1375A>C n.570A>C c.1007A>C (p.His336Pro) c.1031A>C (p.His344Pro) c.*3913A>C (n.*3913A>C) c.1193A>C c.683A>C (p.His228Pro) c.1292A>C (p.His431Pro) c.1316A>C (p.His439Pro) c.1979A>C (n.1979A>C) c.*1497A>C (n.*1497A>C) c.*516A>C (n.*516A>C) c.1250A>C (p.His417Pro) c.1226A>C (p.His409Pro) n.590A>C n.6263A>C c.754A>C c.1229A>C (p.His410Pro) c.1385A>C (p.His462Pro) c.1436A>C (p.His479Pro) c.*894A>C (n.*894A>C) c.1413A>C (n.1413A>C) c.1307A>C (p.His436Pro) c.*150A>C (n.*150A>C) c.1313A>C (p.His438Pro) c.1289A>C (p.His430Pro) c.1355A>C (p.His452Pro) c.872A>C (p.His291Pro) c.896A>C (p.His299Pro) | |
5 | g.162153256A>G | CA362183789 | GABRG2 | c.1317A>G c.1412A>G (p.His471Arg) c.1375A>G n.570A>G c.1007A>G (p.His336Arg) c.1031A>G (p.His344Arg) c.*3913A>G (n.*3913A>G) c.1193A>G c.683A>G (p.His228Arg) c.1292A>G (p.His431Arg) c.1316A>G (p.His439Arg) c.1979A>G (n.1979A>G) c.*1497A>G (n.*1497A>G) c.*516A>G (n.*516A>G) c.1250A>G (p.His417Arg) c.1226A>G (p.His409Arg) n.590A>G n.6263A>G c.754A>G c.1229A>G (p.His410Arg) c.1385A>G (p.His462Arg) c.1436A>G (p.His479Arg) c.*894A>G (n.*894A>G) c.1413A>G (n.1413A>G) c.1307A>G (p.His436Arg) c.*150A>G (n.*150A>G) c.1313A>G (p.His438Arg) c.1289A>G (p.His430Arg) c.1355A>G (p.His452Arg) c.872A>G (p.His291Arg) c.896A>G (p.His299Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
5 | g.162153256A>T | CA3544990 | GABRG2 | c.1317A>T c.1412A>T (p.His471Leu) c.1375A>T n.570A>T c.1007A>T (p.His336Leu) c.1031A>T (p.His344Leu) c.*3913A>T (n.*3913A>T) c.1193A>T c.683A>T (p.His228Leu) c.1292A>T (p.His431Leu) c.1316A>T (p.His439Leu) c.1979A>T (n.1979A>T) c.*1497A>T (n.*1497A>T) c.*516A>T (n.*516A>T) c.1250A>T (p.His417Leu) c.1226A>T (p.His409Leu) n.590A>T n.6263A>T c.754A>T c.1229A>T (p.His410Leu) c.1385A>T (p.His462Leu) c.1436A>T (p.His479Leu) c.*894A>T (n.*894A>T) c.1413A>T (n.1413A>T) c.1307A>T (p.His436Leu) c.*150A>T (n.*150A>T) c.1313A>T (p.His438Leu) c.1289A>T (p.His430Leu) c.1355A>T (p.His452Leu) c.872A>T (p.His291Leu) c.896A>T (p.His299Leu) | dbSNP ExAC gnomAD v2 |
5 | g.162153257T>A | CA362183793 | GABRG2 | c.1318T>A c.1413T>A (p.His471Gln) c.1376T>A n.571T>A c.1008T>A (p.His336Gln) c.1032T>A (p.His344Gln) c.*3914T>A (n.*3914T>A) c.1194T>A c.684T>A (p.His228Gln) c.1293T>A (p.His431Gln) c.1317T>A (p.His439Gln) c.1980T>A (n.1980T>A) c.*1498T>A (n.*1498T>A) c.*517T>A (n.*517T>A) c.1251T>A (p.His417Gln) c.1227T>A (p.His409Gln) n.591T>A n.6264T>A c.755T>A c.1230T>A (p.His410Gln) c.1386T>A (p.His462Gln) c.1437T>A (p.His479Gln) c.*895T>A (n.*895T>A) c.1414T>A (n.1414T>A) c.1308T>A (p.His436Gln) c.*151T>A (n.*151T>A) c.1314T>A (p.His438Gln) c.1290T>A (p.His430Gln) c.1356T>A (p.His452Gln) c.873T>A (p.His291Gln) c.897T>A (p.His299Gln) | |
5 | g.162153257T>C | CA447691893 | GABRG2 | c.1318T>C c.1413T>C (p.His471=) c.1376T>C n.571T>C c.1008T>C (p.His336=) c.1032T>C (p.His344=) c.*3914T>C (n.*3914T>C) c.1194T>C c.684T>C (p.His228=) c.1293T>C (p.His431=) c.1317T>C (p.His439=) c.1980T>C (n.1980T>C) c.*1498T>C (n.*1498T>C) c.*517T>C (n.*517T>C) c.1251T>C (p.His417=) c.1227T>C (p.His409=) n.591T>C n.6264T>C c.755T>C c.1230T>C (p.His410=) c.1386T>C (p.His462=) c.1437T>C (p.His479=) c.*895T>C (n.*895T>C) c.1414T>C (n.1414T>C) c.1308T>C (p.His436=) c.*151T>C (n.*151T>C) c.1314T>C (p.His438=) c.1290T>C (p.His430=) c.1356T>C (p.His452=) c.873T>C (p.His291=) c.897T>C (p.His299=) | |
5 | g.162153257T>G | CA362183794 | GABRG2 | c.1318T>G c.1413T>G (p.His471Gln) c.1376T>G n.571T>G c.1008T>G (p.His336Gln) c.1032T>G (p.His344Gln) c.*3914T>G (n.*3914T>G) c.1194T>G c.684T>G (p.His228Gln) c.1293T>G (p.His431Gln) c.1317T>G (p.His439Gln) c.1980T>G (n.1980T>G) c.*1498T>G (n.*1498T>G) c.*517T>G (n.*517T>G) c.1251T>G (p.His417Gln) c.1227T>G (p.His409Gln) n.591T>G n.6264T>G c.755T>G c.1230T>G (p.His410Gln) c.1386T>G (p.His462Gln) c.1437T>G (p.His479Gln) c.*895T>G (n.*895T>G) c.1414T>G (n.1414T>G) c.1308T>G (p.His436Gln) c.*151T>G (n.*151T>G) c.1314T>G (p.His438Gln) c.1290T>G (p.His430Gln) c.1356T>G (p.His452Gln) c.873T>G (p.His291Gln) c.897T>G (p.His299Gln) | |
5 | g.162153258G>A | CA362183799 | GABRG2 | c.1319G>A c.1414G>A (p.Gly472Arg) c.1377G>A n.572G>A c.1009G>A (p.Gly337Arg) c.1033G>A (p.Gly345Arg) c.*3915G>A (n.*3915G>A) c.1195G>A c.685G>A (p.Gly229Arg) c.1294G>A (p.Gly432Arg) c.1318G>A (p.Gly440Arg) c.1981G>A (n.1981G>A) c.*1499G>A (n.*1499G>A) c.*518G>A (n.*518G>A) c.1252G>A (p.Gly418Arg) c.1228G>A (p.Gly410Arg) n.592G>A n.6265G>A c.756G>A c.1231G>A (p.Gly411Arg) c.1387G>A (p.Gly463Arg) c.1438G>A (p.Gly480Arg) c.*896G>A (n.*896G>A) c.1415G>A (n.1415G>A) c.1309G>A (p.Gly437Arg) c.*152G>A (n.*152G>A) c.1315G>A (p.Gly439Arg) c.1291G>A (p.Gly431Arg) c.1357G>A (p.Gly453Arg) c.874G>A (p.Gly292Arg) c.898G>A (p.Gly300Arg) | ClinVar |
5 | g.162153258G>C | CA362183795 | GABRG2 | c.1319G>C c.1414G>C (p.Gly472Arg) c.1377G>C n.572G>C c.1009G>C (p.Gly337Arg) c.1033G>C (p.Gly345Arg) c.*3915G>C (n.*3915G>C) c.1195G>C c.685G>C (p.Gly229Arg) c.1294G>C (p.Gly432Arg) c.1318G>C (p.Gly440Arg) c.1981G>C (n.1981G>C) c.*1499G>C (n.*1499G>C) c.*518G>C (n.*518G>C) c.1252G>C (p.Gly418Arg) c.1228G>C (p.Gly410Arg) n.592G>C n.6265G>C c.756G>C c.1231G>C (p.Gly411Arg) c.1387G>C (p.Gly463Arg) c.1438G>C (p.Gly480Arg) c.*896G>C (n.*896G>C) c.1415G>C (n.1415G>C) c.1309G>C (p.Gly437Arg) c.*152G>C (n.*152G>C) c.1315G>C (p.Gly439Arg) c.1291G>C (p.Gly431Arg) c.1357G>C (p.Gly453Arg) c.874G>C (p.Gly292Arg) c.898G>C (p.Gly300Arg) | |
5 | g.162153258G>T | CA362183797 | GABRG2 | c.1319G>T c.1414G>T (p.Gly472Trp) c.1377G>T n.572G>T c.1009G>T (p.Gly337Trp) c.1033G>T (p.Gly345Trp) c.*3915G>T (n.*3915G>T) c.1195G>T c.685G>T (p.Gly229Trp) c.1294G>T (p.Gly432Trp) c.1318G>T (p.Gly440Trp) c.1981G>T (n.1981G>T) c.*1499G>T (n.*1499G>T) c.*518G>T (n.*518G>T) c.1252G>T (p.Gly418Trp) c.1228G>T (p.Gly410Trp) n.592G>T n.6265G>T c.756G>T c.1231G>T (p.Gly411Trp) c.1387G>T (p.Gly463Trp) c.1438G>T (p.Gly480Trp) c.*896G>T (n.*896G>T) c.1415G>T (n.1415G>T) c.1309G>T (p.Gly437Trp) c.*152G>T (n.*152G>T) c.1315G>T (p.Gly439Trp) c.1291G>T (p.Gly431Trp) c.1357G>T (p.Gly453Trp) c.874G>T (p.Gly292Trp) c.898G>T (p.Gly300Trp) | COSMIC |
5 | g.162153259G>A | CA362183801 | GABRG2 | c.1320G>A c.1415G>A (p.Gly472Glu) c.1378G>A n.573G>A c.1010G>A (p.Gly337Glu) c.1034G>A (p.Gly345Glu) c.*3916G>A (n.*3916G>A) c.1196G>A c.686G>A (p.Gly229Glu) c.1295G>A (p.Gly432Glu) c.1319G>A (p.Gly440Glu) c.1982G>A (n.1982G>A) c.*1500G>A (n.*1500G>A) c.*519G>A (n.*519G>A) c.1253G>A (p.Gly418Glu) c.1229G>A (p.Gly410Glu) n.593G>A n.6266G>A c.757G>A c.1232G>A (p.Gly411Glu) c.1388G>A (p.Gly463Glu) c.1439G>A (p.Gly480Glu) c.*897G>A (n.*897G>A) c.1416G>A (n.1416G>A) c.1310G>A (p.Gly437Glu) c.*153G>A (n.*153G>A) c.1316G>A (p.Gly439Glu) c.1292G>A (p.Gly431Glu) c.1358G>A (p.Gly453Glu) c.875G>A (p.Gly292Glu) c.899G>A (p.Gly300Glu) | |
5 | g.162153259G>C | CA362183802 | GABRG2 | c.1320G>C c.1415G>C (p.Gly472Ala) c.1378G>C n.573G>C c.1010G>C (p.Gly337Ala) c.1034G>C (p.Gly345Ala) c.*3916G>C (n.*3916G>C) c.1196G>C c.686G>C (p.Gly229Ala) c.1295G>C (p.Gly432Ala) c.1319G>C (p.Gly440Ala) c.1982G>C (n.1982G>C) c.*1500G>C (n.*1500G>C) c.*519G>C (n.*519G>C) c.1253G>C (p.Gly418Ala) c.1229G>C (p.Gly410Ala) n.593G>C n.6266G>C c.757G>C c.1232G>C (p.Gly411Ala) c.1388G>C (p.Gly463Ala) c.1439G>C (p.Gly480Ala) c.*897G>C (n.*897G>C) c.1416G>C (n.1416G>C) c.1310G>C (p.Gly437Ala) c.*153G>C (n.*153G>C) c.1316G>C (p.Gly439Ala) c.1292G>C (p.Gly431Ala) c.1358G>C (p.Gly453Ala) c.875G>C (p.Gly292Ala) c.899G>C (p.Gly300Ala) | |
5 | g.162153259G>T | CA362183804 | GABRG2 | c.1320G>T c.1415G>T (p.Gly472Val) c.1378G>T n.573G>T c.1010G>T (p.Gly337Val) c.1034G>T (p.Gly345Val) c.*3916G>T (n.*3916G>T) c.1196G>T c.686G>T (p.Gly229Val) c.1295G>T (p.Gly432Val) c.1319G>T (p.Gly440Val) c.1982G>T (n.1982G>T) c.*1500G>T (n.*1500G>T) c.*519G>T (n.*519G>T) c.1253G>T (p.Gly418Val) c.1229G>T (p.Gly410Val) n.593G>T n.6266G>T c.757G>T c.1232G>T (p.Gly411Val) c.1388G>T (p.Gly463Val) c.1439G>T (p.Gly480Val) c.*897G>T (n.*897G>T) c.1416G>T (n.1416G>T) c.1310G>T (p.Gly437Val) c.*153G>T (n.*153G>T) c.1316G>T (p.Gly439Val) c.1292G>T (p.Gly431Val) c.1358G>T (p.Gly453Val) c.875G>T (p.Gly292Val) c.899G>T (p.Gly300Val) | |
5 | g.162153260G>A | CA3544991 | GABRG2 | c.1321G>A c.1416G>A (p.Gly472=) c.1379G>A n.574G>A c.1011G>A (p.Gly337=) c.1035G>A (p.Gly345=) c.*3917G>A (n.*3917G>A) c.1197G>A c.687G>A (p.Gly229=) c.1296G>A (p.Gly432=) c.1320G>A (p.Gly440=) c.1983G>A (n.1983G>A) c.*1501G>A (n.*1501G>A) c.*520G>A (n.*520G>A) c.1254G>A (p.Gly418=) c.1230G>A (p.Gly410=) n.594G>A n.6267G>A c.758G>A c.1233G>A (p.Gly411=) c.1389G>A (p.Gly463=) c.1440G>A (p.Gly480=) c.*898G>A (n.*898G>A) c.1417G>A (n.1417G>A) c.1311G>A (p.Gly437=) c.*154G>A (n.*154G>A) c.1317G>A (p.Gly439=) c.1293G>A (p.Gly431=) c.1359G>A (p.Gly453=) c.876G>A (p.Gly292=) c.900G>A (p.Gly300=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.162153260G>C | CA447691899 | GABRG2 | c.1321G>C c.1416G>C (p.Gly472=) c.1379G>C n.574G>C c.1011G>C (p.Gly337=) c.1035G>C (p.Gly345=) c.*3917G>C (n.*3917G>C) c.1197G>C c.687G>C (p.Gly229=) c.1296G>C (p.Gly432=) c.1320G>C (p.Gly440=) c.1983G>C (n.1983G>C) c.*1501G>C (n.*1501G>C) c.*520G>C (n.*520G>C) c.1254G>C (p.Gly418=) c.1230G>C (p.Gly410=) n.594G>C n.6267G>C c.758G>C c.1233G>C (p.Gly411=) c.1389G>C (p.Gly463=) c.1440G>C (p.Gly480=) c.*898G>C (n.*898G>C) c.1417G>C (n.1417G>C) c.1311G>C (p.Gly437=) c.*154G>C (n.*154G>C) c.1317G>C (p.Gly439=) c.1293G>C (p.Gly431=) c.1359G>C (p.Gly453=) c.876G>C (p.Gly292=) c.900G>C (p.Gly300=) | |
5 | g.162153260G= | CA1596382150 | GABRG2 | c.1321G= c.1416G= (p.Gly472=) c.1379G= n.574G= c.1011G= (p.Gly337=) c.1035G= (p.Gly345=) c.*3917G= (n.*3917G=) c.1197G= c.687G= (p.Gly229=) c.1296G= (p.Gly432=) c.1320G= (p.Gly440=) c.1983G= (n.1983G=) c.*1501G= (n.*1501G=) c.*520G= (n.*520G=) c.1254G= (p.Gly418=) c.1230G= (p.Gly410=) n.594G= n.6267G= c.758G= c.1233G= (p.Gly411=) c.1389G= (p.Gly463=) c.1440G= (p.Gly480=) c.*898G= (n.*898G=) c.1417G= (n.1417G=) c.1311G= (p.Gly437=) c.*154G= (n.*154G=) c.1317G= (p.Gly439=) c.1293G= (p.Gly431=) c.1359G= (p.Gly453=) c.876G= (p.Gly292=) c.900G= (p.Gly300=) | |
5 | g.162153260G>T | CA447691898 | GABRG2 | c.1321G>T c.1416G>T (p.Gly472=) c.1379G>T n.574G>T c.1011G>T (p.Gly337=) c.1035G>T (p.Gly345=) c.*3917G>T (n.*3917G>T) c.1197G>T c.687G>T (p.Gly229=) c.1296G>T (p.Gly432=) c.1320G>T (p.Gly440=) c.1983G>T (n.1983G>T) c.*1501G>T (n.*1501G>T) c.*520G>T (n.*520G>T) c.1254G>T (p.Gly418=) c.1230G>T (p.Gly410=) n.594G>T n.6267G>T c.758G>T c.1233G>T (p.Gly411=) c.1389G>T (p.Gly463=) c.1440G>T (p.Gly480=) c.*898G>T (n.*898G>T) c.1417G>T (n.1417G>T) c.1311G>T (p.Gly437=) c.*154G>T (n.*154G>T) c.1317G>T (p.Gly439=) c.1293G>T (p.Gly431=) c.1359G>T (p.Gly453=) c.876G>T (p.Gly292=) c.900G>T (p.Gly300=) | |
5 | g.162153261A= | CA1596382155 | GABRG2 | c.1322A= c.1417A= (p.Arg473=) c.1380A= n.575A= c.1012A= (p.Arg338=) c.1036A= (p.Arg346=) c.*3918A= (n.*3918A=) c.1198A= c.688A= (p.Arg230=) c.1297A= (p.Arg433=) c.1321A= (p.Arg441=) c.1984A= (n.1984A=) c.*1502A= (n.*1502A=) c.*521A= (n.*521A=) c.1255A= (p.Arg419=) c.1231A= (p.Arg411=) n.595A= n.6268A= c.759A= c.1234A= (p.Arg412=) c.1390A= (p.Arg464=) c.1441A= (p.Arg481=) c.*899A= (n.*899A=) c.1418A= (n.1418A=) c.1312A= (p.Arg438=) c.*155A= (n.*155A=) c.1318A= (p.Arg440=) c.1294A= (p.Arg432=) c.1360A= (p.Arg454=) c.877A= (p.Arg293=) c.901A= (p.Arg301=) | |
5 | g.162153261A>C | CA447691902 | GABRG2 | c.1322A>C c.1417A>C (p.Arg473=) c.1380A>C n.575A>C c.1012A>C (p.Arg338=) c.1036A>C (p.Arg346=) c.*3918A>C (n.*3918A>C) c.1198A>C c.688A>C (p.Arg230=) c.1297A>C (p.Arg433=) c.1321A>C (p.Arg441=) c.1984A>C (n.1984A>C) c.*1502A>C (n.*1502A>C) c.*521A>C (n.*521A>C) c.1255A>C (p.Arg419=) c.1231A>C (p.Arg411=) n.595A>C n.6268A>C c.759A>C c.1234A>C (p.Arg412=) c.1390A>C (p.Arg464=) c.1441A>C (p.Arg481=) c.*899A>C (n.*899A>C) c.1418A>C (n.1418A>C) c.1312A>C (p.Arg438=) c.*155A>C (n.*155A>C) c.1318A>C (p.Arg440=) c.1294A>C (p.Arg432=) c.1360A>C (p.Arg454=) c.877A>C (p.Arg293=) c.901A>C (p.Arg301=) | |
5 | g.162153261A>G | CA3544992 | GABRG2 | c.1322A>G c.1417A>G (p.Arg473Gly) c.1380A>G n.575A>G c.1012A>G (p.Arg338Gly) c.1036A>G (p.Arg346Gly) c.*3918A>G (n.*3918A>G) c.1198A>G c.688A>G (p.Arg230Gly) c.1297A>G (p.Arg433Gly) c.1321A>G (p.Arg441Gly) c.1984A>G (n.1984A>G) c.*1502A>G (n.*1502A>G) c.*521A>G (n.*521A>G) c.1255A>G (p.Arg419Gly) c.1231A>G (p.Arg411Gly) n.595A>G n.6268A>G c.759A>G c.1234A>G (p.Arg412Gly) c.1390A>G (p.Arg464Gly) c.1441A>G (p.Arg481Gly) c.*899A>G (n.*899A>G) c.1418A>G (n.1418A>G) c.1312A>G (p.Arg438Gly) c.*155A>G (n.*155A>G) c.1318A>G (p.Arg440Gly) c.1294A>G (p.Arg432Gly) c.1360A>G (p.Arg454Gly) c.877A>G (p.Arg293Gly) c.901A>G (p.Arg301Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.162153261A>T | CA362183807 | GABRG2 | c.1322A>T c.1417A>T (p.Arg473Trp) c.1380A>T n.575A>T c.1012A>T (p.Arg338Trp) c.1036A>T (p.Arg346Trp) c.*3918A>T (n.*3918A>T) c.1198A>T c.688A>T (p.Arg230Trp) c.1297A>T (p.Arg433Trp) c.1321A>T (p.Arg441Trp) c.1984A>T (n.1984A>T) c.*1502A>T (n.*1502A>T) c.*521A>T (n.*521A>T) c.1255A>T (p.Arg419Trp) c.1231A>T (p.Arg411Trp) n.595A>T n.6268A>T c.759A>T c.1234A>T (p.Arg412Trp) c.1390A>T (p.Arg464Trp) c.1441A>T (p.Arg481Trp) c.*899A>T (n.*899A>T) c.1418A>T (n.1418A>T) c.1312A>T (p.Arg438Trp) c.*155A>T (n.*155A>T) c.1318A>T (p.Arg440Trp) c.1294A>T (p.Arg432Trp) c.1360A>T (p.Arg454Trp) c.877A>T (p.Arg293Trp) c.901A>T (p.Arg301Trp) | |
5 | g.162153262G>A | CA362183812 | GABRG2 | c.1323G>A c.1418G>A (p.Arg473Lys) c.1381G>A n.576G>A c.1013G>A (p.Arg338Lys) c.1037G>A (p.Arg346Lys) c.*3919G>A (n.*3919G>A) c.1199G>A c.689G>A (p.Arg230Lys) c.1298G>A (p.Arg433Lys) c.1322G>A (p.Arg441Lys) c.1985G>A (n.1985G>A) c.*1503G>A (n.*1503G>A) c.*522G>A (n.*522G>A) c.1256G>A (p.Arg419Lys) c.1232G>A (p.Arg411Lys) n.596G>A n.6269G>A c.760G>A c.1235G>A (p.Arg412Lys) c.1391G>A (p.Arg464Lys) c.1442G>A (p.Arg481Lys) c.*900G>A (n.*900G>A) c.1419G>A (n.1419G>A) c.1313G>A (p.Arg438Lys) c.*156G>A (n.*156G>A) c.1319G>A (p.Arg440Lys) c.1295G>A (p.Arg432Lys) c.1361G>A (p.Arg454Lys) c.878G>A (p.Arg293Lys) c.902G>A (p.Arg301Lys) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
5 | g.162153262G>C | CA362183809 | GABRG2 | c.1323G>C c.1418G>C (p.Arg473Thr) c.1381G>C n.576G>C c.1013G>C (p.Arg338Thr) c.1037G>C (p.Arg346Thr) c.*3919G>C (n.*3919G>C) c.1199G>C c.689G>C (p.Arg230Thr) c.1298G>C (p.Arg433Thr) c.1322G>C (p.Arg441Thr) c.1985G>C (n.1985G>C) c.*1503G>C (n.*1503G>C) c.*522G>C (n.*522G>C) c.1256G>C (p.Arg419Thr) c.1232G>C (p.Arg411Thr) n.596G>C n.6269G>C c.760G>C c.1235G>C (p.Arg412Thr) c.1391G>C (p.Arg464Thr) c.1442G>C (p.Arg481Thr) c.*900G>C (n.*900G>C) c.1419G>C (n.1419G>C) c.1313G>C (p.Arg438Thr) c.*156G>C (n.*156G>C) c.1319G>C (p.Arg440Thr) c.1295G>C (p.Arg432Thr) c.1361G>C (p.Arg454Thr) c.878G>C (p.Arg293Thr) c.902G>C (p.Arg301Thr) | |
5 | g.162153262G= | CA1596382158 | GABRG2 | c.1323G= c.1418G= (p.Arg473=) c.1381G= n.576G= c.1013G= (p.Arg338=) c.1037G= (p.Arg346=) c.*3919G= (n.*3919G=) c.1199G= c.689G= (p.Arg230=) c.1298G= (p.Arg433=) c.1322G= (p.Arg441=) c.1985G= (n.1985G=) c.*1503G= (n.*1503G=) c.*522G= (n.*522G=) c.1256G= (p.Arg419=) c.1232G= (p.Arg411=) n.596G= n.6269G= c.760G= c.1235G= (p.Arg412=) c.1391G= (p.Arg464=) c.1442G= (p.Arg481=) c.*900G= (n.*900G=) c.1419G= (n.1419G=) c.1313G= (p.Arg438=) c.*156G= (n.*156G=) c.1319G= (p.Arg440=) c.1295G= (p.Arg432=) c.1361G= (p.Arg454=) c.878G= (p.Arg293=) c.902G= (p.Arg301=) | |
5 | g.162153262G>T | CA362183811 | GABRG2 | c.1323G>T c.1418G>T (p.Arg473Met) c.1381G>T n.576G>T c.1013G>T (p.Arg338Met) c.1037G>T (p.Arg346Met) c.*3919G>T (n.*3919G>T) c.1199G>T c.689G>T (p.Arg230Met) c.1298G>T (p.Arg433Met) c.1322G>T (p.Arg441Met) c.1985G>T (n.1985G>T) c.*1503G>T (n.*1503G>T) c.*522G>T (n.*522G>T) c.1256G>T (p.Arg419Met) c.1232G>T (p.Arg411Met) n.596G>T n.6269G>T c.760G>T c.1235G>T (p.Arg412Met) c.1391G>T (p.Arg464Met) c.1442G>T (p.Arg481Met) c.*900G>T (n.*900G>T) c.1419G>T (n.1419G>T) c.1313G>T (p.Arg438Met) c.*156G>T (n.*156G>T) c.1319G>T (p.Arg440Met) c.1295G>T (p.Arg432Met) c.1361G>T (p.Arg454Met) c.878G>T (p.Arg293Met) c.902G>T (p.Arg301Met) | |
5 | g.162153263G>A | CA447691906 | GABRG2 | c.1324G>A c.1419G>A (p.Arg473=) c.1382G>A n.577G>A c.1014G>A (p.Arg338=) c.1038G>A (p.Arg346=) c.*3920G>A (n.*3920G>A) c.1200G>A c.690G>A (p.Arg230=) c.1299G>A (p.Arg433=) c.1323G>A (p.Arg441=) c.1986G>A (n.1986G>A) c.*1504G>A (n.*1504G>A) c.*523G>A (n.*523G>A) c.1257G>A (p.Arg419=) c.1233G>A (p.Arg411=) n.597G>A n.6270G>A c.761G>A c.1236G>A (p.Arg412=) c.1392G>A (p.Arg464=) c.1443G>A (p.Arg481=) c.*901G>A (n.*901G>A) c.1420G>A (n.1420G>A) c.1314G>A (p.Arg438=) c.*157G>A (n.*157G>A) c.1320G>A (p.Arg440=) c.1296G>A (p.Arg432=) c.1362G>A (p.Arg454=) c.879G>A (p.Arg293=) c.903G>A (p.Arg301=) | COSMIC |
5 | g.162153263G>C | CA362183813 | GABRG2 | c.1324G>C c.1419G>C (p.Arg473Ser) c.1382G>C n.577G>C c.1014G>C (p.Arg338Ser) c.1038G>C (p.Arg346Ser) c.*3920G>C (n.*3920G>C) c.1200G>C c.690G>C (p.Arg230Ser) c.1299G>C (p.Arg433Ser) c.1323G>C (p.Arg441Ser) c.1986G>C (n.1986G>C) c.*1504G>C (n.*1504G>C) c.*523G>C (n.*523G>C) c.1257G>C (p.Arg419Ser) c.1233G>C (p.Arg411Ser) n.597G>C n.6270G>C c.761G>C c.1236G>C (p.Arg412Ser) c.1392G>C (p.Arg464Ser) c.1443G>C (p.Arg481Ser) c.*901G>C (n.*901G>C) c.1420G>C (n.1420G>C) c.1314G>C (p.Arg438Ser) c.*157G>C (n.*157G>C) c.1320G>C (p.Arg440Ser) c.1296G>C (p.Arg432Ser) c.1362G>C (p.Arg454Ser) c.879G>C (p.Arg293Ser) c.903G>C (p.Arg301Ser) | |
5 | g.162153263G>T | CA362183814 | GABRG2 | c.1324G>T c.1419G>T (p.Arg473Ser) c.1382G>T n.577G>T c.1014G>T (p.Arg338Ser) c.1038G>T (p.Arg346Ser) c.*3920G>T (n.*3920G>T) c.1200G>T c.690G>T (p.Arg230Ser) c.1299G>T (p.Arg433Ser) c.1323G>T (p.Arg441Ser) c.1986G>T (n.1986G>T) c.*1504G>T (n.*1504G>T) c.*523G>T (n.*523G>T) c.1257G>T (p.Arg419Ser) c.1233G>T (p.Arg411Ser) n.597G>T n.6270G>T c.761G>T c.1236G>T (p.Arg412Ser) c.1392G>T (p.Arg464Ser) c.1443G>T (p.Arg481Ser) c.*901G>T (n.*901G>T) c.1420G>T (n.1420G>T) c.1314G>T (p.Arg438Ser) c.*157G>T (n.*157G>T) c.1320G>T (p.Arg440Ser) c.1296G>T (p.Arg432Ser) c.1362G>T (p.Arg454Ser) c.879G>T (p.Arg293Ser) c.903G>T (p.Arg301Ser) | |
5 | g.162153264A>C | CA362183815 | GABRG2 | c.1325A>C c.1420A>C (p.Ile474Leu) c.1383A>C n.578A>C c.1015A>C (p.Ile339Leu) c.1039A>C (p.Ile347Leu) c.*3921A>C (n.*3921A>C) c.1201A>C c.691A>C (p.Ile231Leu) c.1300A>C (p.Ile434Leu) c.1324A>C (p.Ile442Leu) c.1987A>C (n.1987A>C) c.*1505A>C (n.*1505A>C) c.*524A>C (n.*524A>C) c.1258A>C (p.Ile420Leu) c.1234A>C (p.Ile412Leu) n.598A>C n.6271A>C c.762A>C c.1237A>C (p.Ile413Leu) c.1393A>C (p.Ile465Leu) c.1444A>C (p.Ile482Leu) c.*902A>C (n.*902A>C) c.1421A>C (n.1421A>C) c.1315A>C (p.Ile439Leu) c.*158A>C (n.*158A>C) c.1321A>C (p.Ile441Leu) c.1297A>C (p.Ile433Leu) c.1363A>C (p.Ile455Leu) c.880A>C (p.Ile294Leu) c.904A>C (p.Ile302Leu) | |
5 | g.162153264A>G | CA362183816 | GABRG2 | c.1325A>G c.1420A>G (p.Ile474Val) c.1383A>G n.578A>G c.1015A>G (p.Ile339Val) c.1039A>G (p.Ile347Val) c.*3921A>G (n.*3921A>G) c.1201A>G c.691A>G (p.Ile231Val) c.1300A>G (p.Ile434Val) c.1324A>G (p.Ile442Val) c.1987A>G (n.1987A>G) c.*1505A>G (n.*1505A>G) c.*524A>G (n.*524A>G) c.1258A>G (p.Ile420Val) c.1234A>G (p.Ile412Val) n.598A>G n.6271A>G c.762A>G c.1237A>G (p.Ile413Val) c.1393A>G (p.Ile465Val) c.1444A>G (p.Ile482Val) c.*902A>G (n.*902A>G) c.1421A>G (n.1421A>G) c.1315A>G (p.Ile439Val) c.*158A>G (n.*158A>G) c.1321A>G (p.Ile441Val) c.1297A>G (p.Ile433Val) c.1363A>G (p.Ile455Val) c.880A>G (p.Ile294Val) c.904A>G (p.Ile302Val) | ClinVar |
5 | g.162153264A>T | CA362183817 | GABRG2 | c.1325A>T c.1420A>T (p.Ile474Leu) c.1383A>T n.578A>T c.1015A>T (p.Ile339Leu) c.1039A>T (p.Ile347Leu) c.*3921A>T (n.*3921A>T) c.1201A>T c.691A>T (p.Ile231Leu) c.1300A>T (p.Ile434Leu) c.1324A>T (p.Ile442Leu) c.1987A>T (n.1987A>T) c.*1505A>T (n.*1505A>T) c.*524A>T (n.*524A>T) c.1258A>T (p.Ile420Leu) c.1234A>T (p.Ile412Leu) n.598A>T n.6271A>T c.762A>T c.1237A>T (p.Ile413Leu) c.1393A>T (p.Ile465Leu) c.1444A>T (p.Ile482Leu) c.*902A>T (n.*902A>T) c.1421A>T (n.1421A>T) c.1315A>T (p.Ile439Leu) c.*158A>T (n.*158A>T) c.1321A>T (p.Ile441Leu) c.1297A>T (p.Ile433Leu) c.1363A>T (p.Ile455Leu) c.880A>T (p.Ile294Leu) c.904A>T (p.Ile302Leu) | |
5 | g.162153265T>A | CA362183820 | GABRG2 | c.1326T>A c.1421T>A (p.Ile474Lys) c.1384T>A n.579T>A c.1016T>A (p.Ile339Lys) c.1040T>A (p.Ile347Lys) c.*3922T>A (n.*3922T>A) c.1202T>A c.692T>A (p.Ile231Lys) c.1301T>A (p.Ile434Lys) c.1325T>A (p.Ile442Lys) c.1988T>A (n.1988T>A) c.*1506T>A (n.*1506T>A) c.*525T>A (n.*525T>A) c.1259T>A (p.Ile420Lys) c.1235T>A (p.Ile412Lys) n.599T>A n.6272T>A c.763T>A c.1238T>A (p.Ile413Lys) c.1394T>A (p.Ile465Lys) c.1445T>A (p.Ile482Lys) c.*903T>A (n.*903T>A) c.1422T>A (n.1422T>A) c.1316T>A (p.Ile439Lys) c.*159T>A (n.*159T>A) c.1322T>A (p.Ile441Lys) c.1298T>A (p.Ile433Lys) c.1364T>A (p.Ile455Lys) c.881T>A (p.Ile294Lys) c.905T>A (p.Ile302Lys) | |
5 | g.162153265T>C | CA362183818 | GABRG2 | c.1326T>C c.1421T>C (p.Ile474Thr) c.1384T>C n.579T>C c.1016T>C (p.Ile339Thr) c.1040T>C (p.Ile347Thr) c.*3922T>C (n.*3922T>C) c.1202T>C c.692T>C (p.Ile231Thr) c.1301T>C (p.Ile434Thr) c.1325T>C (p.Ile442Thr) c.1988T>C (n.1988T>C) c.*1506T>C (n.*1506T>C) c.*525T>C (n.*525T>C) c.1259T>C (p.Ile420Thr) c.1235T>C (p.Ile412Thr) n.599T>C n.6272T>C c.763T>C c.1238T>C (p.Ile413Thr) c.1394T>C (p.Ile465Thr) c.1445T>C (p.Ile482Thr) c.*903T>C (n.*903T>C) c.1422T>C (n.1422T>C) c.1316T>C (p.Ile439Thr) c.*159T>C (n.*159T>C) c.1322T>C (p.Ile441Thr) c.1298T>C (p.Ile433Thr) c.1364T>C (p.Ile455Thr) c.881T>C (p.Ile294Thr) c.905T>C (p.Ile302Thr) | |
5 | g.162153265T>G | CA362183819 | GABRG2 | c.1326T>G c.1421T>G (p.Ile474Arg) c.1384T>G n.579T>G c.1016T>G (p.Ile339Arg) c.1040T>G (p.Ile347Arg) c.*3922T>G (n.*3922T>G) c.1202T>G c.692T>G (p.Ile231Arg) c.1301T>G (p.Ile434Arg) c.1325T>G (p.Ile442Arg) c.1988T>G (n.1988T>G) c.*1506T>G (n.*1506T>G) c.*525T>G (n.*525T>G) c.1259T>G (p.Ile420Arg) c.1235T>G (p.Ile412Arg) n.599T>G n.6272T>G c.763T>G c.1238T>G (p.Ile413Arg) c.1394T>G (p.Ile465Arg) c.1445T>G (p.Ile482Arg) c.*903T>G (n.*903T>G) c.1422T>G (n.1422T>G) c.1316T>G (p.Ile439Arg) c.*159T>G (n.*159T>G) c.1322T>G (p.Ile441Arg) c.1298T>G (p.Ile433Arg) c.1364T>G (p.Ile455Arg) c.881T>G (p.Ile294Arg) c.905T>G (p.Ile302Arg) | |
5 | g.162153266A= | CA1596382161 | GABRG2 | c.1327A= c.1422A= (p.Ile474=) c.1385A= n.580A= c.1017A= (p.Ile339=) c.1041A= (p.Ile347=) c.*3923A= (n.*3923A=) c.1203A= c.693A= (p.Ile231=) c.1302A= (p.Ile434=) c.1326A= (p.Ile442=) c.1989A= (n.1989A=) c.*1507A= (n.*1507A=) c.*526A= (n.*526A=) c.1260A= (p.Ile420=) c.1236A= (p.Ile412=) n.600A= n.6273A= c.764A= c.1239A= (p.Ile413=) c.1395A= (p.Ile465=) c.1446A= (p.Ile482=) c.*904A= (n.*904A=) c.1423A= (n.1423A=) c.1317A= (p.Ile439=) c.*160A= (n.*160A=) c.1323A= (p.Ile441=) c.1299A= (p.Ile433=) c.1365A= (p.Ile455=) c.882A= (p.Ile294=) c.906A= (p.Ile302=) | |
5 | g.162153266A>C | CA447691915 | GABRG2 | c.1327A>C c.1422A>C (p.Ile474=) c.1385A>C n.580A>C c.1017A>C (p.Ile339=) c.1041A>C (p.Ile347=) c.*3923A>C (n.*3923A>C) c.1203A>C c.693A>C (p.Ile231=) c.1302A>C (p.Ile434=) c.1326A>C (p.Ile442=) c.1989A>C (n.1989A>C) c.*1507A>C (n.*1507A>C) c.*526A>C (n.*526A>C) c.1260A>C (p.Ile420=) c.1236A>C (p.Ile412=) n.600A>C n.6273A>C c.764A>C c.1239A>C (p.Ile413=) c.1395A>C (p.Ile465=) c.1446A>C (p.Ile482=) c.*904A>C (n.*904A>C) c.1423A>C (n.1423A>C) c.1317A>C (p.Ile439=) c.*160A>C (n.*160A>C) c.1323A>C (p.Ile441=) c.1299A>C (p.Ile433=) c.1365A>C (p.Ile455=) c.882A>C (p.Ile294=) c.906A>C (p.Ile302=) | |
5 | g.162153266A>G | CA131117674 | GABRG2 | c.1327A>G c.1422A>G (p.Ile474Met) c.1385A>G n.580A>G c.1017A>G (p.Ile339Met) c.1041A>G (p.Ile347Met) c.*3923A>G (n.*3923A>G) c.1203A>G c.693A>G (p.Ile231Met) c.1302A>G (p.Ile434Met) c.1326A>G (p.Ile442Met) c.1989A>G (n.1989A>G) c.*1507A>G (n.*1507A>G) c.*526A>G (n.*526A>G) c.1260A>G (p.Ile420Met) c.1236A>G (p.Ile412Met) n.600A>G n.6273A>G c.764A>G c.1239A>G (p.Ile413Met) c.1395A>G (p.Ile465Met) c.1446A>G (p.Ile482Met) c.*904A>G (n.*904A>G) c.1423A>G (n.1423A>G) c.1317A>G (p.Ile439Met) c.*160A>G (n.*160A>G) c.1323A>G (p.Ile441Met) c.1299A>G (p.Ile433Met) c.1365A>G (p.Ile455Met) c.882A>G (p.Ile294Met) c.906A>G (p.Ile302Met) | dbSNP gnomAD v4 |
5 | g.162153266A>T | CA447691916 | GABRG2 | c.1327A>T c.1422A>T (p.Ile474=) c.1385A>T n.580A>T c.1017A>T (p.Ile339=) c.1041A>T (p.Ile347=) c.*3923A>T (n.*3923A>T) c.1203A>T c.693A>T (p.Ile231=) c.1302A>T (p.Ile434=) c.1326A>T (p.Ile442=) c.1989A>T (n.1989A>T) c.*1507A>T (n.*1507A>T) c.*526A>T (n.*526A>T) c.1260A>T (p.Ile420=) c.1236A>T (p.Ile412=) n.600A>T n.6273A>T c.764A>T c.1239A>T (p.Ile413=) c.1395A>T (p.Ile465=) c.1446A>T (p.Ile482=) c.*904A>T (n.*904A>T) c.1423A>T (n.1423A>T) c.1317A>T (p.Ile439=) c.*160A>T (n.*160A>T) c.1323A>T (p.Ile441=) c.1299A>T (p.Ile433=) c.1365A>T (p.Ile455=) c.882A>T (p.Ile294=) c.906A>T (p.Ile302=) | |
5 | g.162153267C>A | CA362183823 | GABRG2 | c.1328C>A c.1423C>A (p.His475Asn) c.1386C>A n.581C>A c.1018C>A (p.His340Asn) c.1042C>A (p.His348Asn) c.*3924C>A (n.*3924C>A) c.1204C>A c.694C>A (p.His232Asn) c.1303C>A (p.His435Asn) c.1327C>A (p.His443Asn) c.1990C>A (n.1990C>A) c.*1508C>A (n.*1508C>A) c.*527C>A (n.*527C>A) c.1261C>A (p.His421Asn) c.1237C>A (p.His413Asn) n.601C>A n.6274C>A c.765C>A c.1240C>A (p.His414Asn) c.1396C>A (p.His466Asn) c.1447C>A (p.His483Asn) c.*905C>A (n.*905C>A) c.1424C>A (n.1424C>A) c.1318C>A (p.His440Asn) c.*161C>A (n.*161C>A) c.1324C>A (p.His442Asn) c.1300C>A (p.His434Asn) c.1366C>A (p.His456Asn) c.883C>A (p.His295Asn) c.907C>A (p.His303Asn) | |
5 | g.162153267C>G | CA362183825 | GABRG2 | c.1328C>G c.1423C>G (p.His475Asp) c.1386C>G n.581C>G c.1018C>G (p.His340Asp) c.1042C>G (p.His348Asp) c.*3924C>G (n.*3924C>G) c.1204C>G c.694C>G (p.His232Asp) c.1303C>G (p.His435Asp) c.1327C>G (p.His443Asp) c.1990C>G (n.1990C>G) c.*1508C>G (n.*1508C>G) c.*527C>G (n.*527C>G) c.1261C>G (p.His421Asp) c.1237C>G (p.His413Asp) n.601C>G n.6274C>G c.765C>G c.1240C>G (p.His414Asp) c.1396C>G (p.His466Asp) c.1447C>G (p.His483Asp) c.*905C>G (n.*905C>G) c.1424C>G (n.1424C>G) c.1318C>G (p.His440Asp) c.*161C>G (n.*161C>G) c.1324C>G (p.His442Asp) c.1300C>G (p.His434Asp) c.1366C>G (p.His456Asp) c.883C>G (p.His295Asp) c.907C>G (p.His303Asp) | |
5 | g.162153267C>T | CA362183827 | GABRG2 | c.1328C>T c.1423C>T (p.His475Tyr) c.1386C>T n.581C>T c.1018C>T (p.His340Tyr) c.1042C>T (p.His348Tyr) c.*3924C>T (n.*3924C>T) c.1204C>T c.694C>T (p.His232Tyr) c.1303C>T (p.His435Tyr) c.1327C>T (p.His443Tyr) c.1990C>T (n.1990C>T) c.*1508C>T (n.*1508C>T) c.*527C>T (n.*527C>T) c.1261C>T (p.His421Tyr) c.1237C>T (p.His413Tyr) n.601C>T n.6274C>T c.765C>T c.1240C>T (p.His414Tyr) c.1396C>T (p.His466Tyr) c.1447C>T (p.His483Tyr) c.*905C>T (n.*905C>T) c.1424C>T (n.1424C>T) c.1318C>T (p.His440Tyr) c.*161C>T (n.*161C>T) c.1324C>T (p.His442Tyr) c.1300C>T (p.His434Tyr) c.1366C>T (p.His456Tyr) c.883C>T (p.His295Tyr) c.907C>T (p.His303Tyr) | |
5 | g.162153268A>C | CA362183828 | GABRG2 | c.1329A>C c.1424A>C (p.His475Pro) c.1387A>C n.582A>C c.1019A>C (p.His340Pro) c.1043A>C (p.His348Pro) c.*3925A>C (n.*3925A>C) c.1205A>C c.695A>C (p.His232Pro) c.1304A>C (p.His435Pro) c.1328A>C (p.His443Pro) c.1991A>C (n.1991A>C) c.*1509A>C (n.*1509A>C) c.*528A>C (n.*528A>C) c.1262A>C (p.His421Pro) c.1238A>C (p.His413Pro) n.602A>C n.6275A>C c.766A>C c.1241A>C (p.His414Pro) c.1397A>C (p.His466Pro) c.1448A>C (p.His483Pro) c.*906A>C (n.*906A>C) c.1425A>C (n.1425A>C) c.1319A>C (p.His440Pro) c.*162A>C (n.*162A>C) c.1325A>C (p.His442Pro) c.1301A>C (p.His434Pro) c.1367A>C (p.His456Pro) c.884A>C (p.His295Pro) c.908A>C (p.His303Pro) | gnomAD v4 |
5 | g.162153268A>G | CA362183830 | GABRG2 | c.1329A>G c.1424A>G (p.His475Arg) c.1387A>G n.582A>G c.1019A>G (p.His340Arg) c.1043A>G (p.His348Arg) c.*3925A>G (n.*3925A>G) c.1205A>G c.695A>G (p.His232Arg) c.1304A>G (p.His435Arg) c.1328A>G (p.His443Arg) c.1991A>G (n.1991A>G) c.*1509A>G (n.*1509A>G) c.*528A>G (n.*528A>G) c.1262A>G (p.His421Arg) c.1238A>G (p.His413Arg) n.602A>G n.6275A>G c.766A>G c.1241A>G (p.His414Arg) c.1397A>G (p.His466Arg) c.1448A>G (p.His483Arg) c.*906A>G (n.*906A>G) c.1425A>G (n.1425A>G) c.1319A>G (p.His440Arg) c.*162A>G (n.*162A>G) c.1325A>G (p.His442Arg) c.1301A>G (p.His434Arg) c.1367A>G (p.His456Arg) c.884A>G (p.His295Arg) c.908A>G (p.His303Arg) | |
5 | g.162153268A>T | CA362183832 | GABRG2 | c.1329A>T c.1424A>T (p.His475Leu) c.1387A>T n.582A>T c.1019A>T (p.His340Leu) c.1043A>T (p.His348Leu) c.*3925A>T (n.*3925A>T) c.1205A>T c.695A>T (p.His232Leu) c.1304A>T (p.His435Leu) c.1328A>T (p.His443Leu) c.1991A>T (n.1991A>T) c.*1509A>T (n.*1509A>T) c.*528A>T (n.*528A>T) c.1262A>T (p.His421Leu) c.1238A>T (p.His413Leu) n.602A>T n.6275A>T c.766A>T c.1241A>T (p.His414Leu) c.1397A>T (p.His466Leu) c.1448A>T (p.His483Leu) c.*906A>T (n.*906A>T) c.1425A>T (n.1425A>T) c.1319A>T (p.His440Leu) c.*162A>T (n.*162A>T) c.1325A>T (p.His442Leu) c.1301A>T (p.His434Leu) c.1367A>T (p.His456Leu) c.884A>T (p.His295Leu) c.908A>T (p.His303Leu) | |
5 | g.162153269T>A | CA362183834 | GABRG2 | c.1330T>A c.1425T>A (p.His475Gln) c.1388T>A n.583T>A c.1020T>A (p.His340Gln) c.1044T>A (p.His348Gln) c.*3926T>A (n.*3926T>A) c.1206T>A c.696T>A (p.His232Gln) c.1305T>A (p.His435Gln) c.1329T>A (p.His443Gln) c.1992T>A (n.1992T>A) c.*1510T>A (n.*1510T>A) c.*529T>A (n.*529T>A) c.1263T>A (p.His421Gln) c.1239T>A (p.His413Gln) n.603T>A n.6276T>A c.767T>A c.1242T>A (p.His414Gln) c.1398T>A (p.His466Gln) c.1449T>A (p.His483Gln) c.*907T>A (n.*907T>A) c.1426T>A (n.1426T>A) c.1320T>A (p.His440Gln) c.*163T>A (n.*163T>A) c.1326T>A (p.His442Gln) c.1302T>A (p.His434Gln) c.1368T>A (p.His456Gln) c.885T>A (p.His295Gln) c.909T>A (p.His303Gln) | |
5 | g.162153269T>C | CA447691919 | GABRG2 | c.1330T>C c.1425T>C (p.His475=) c.1388T>C n.583T>C c.1020T>C (p.His340=) c.1044T>C (p.His348=) c.*3926T>C (n.*3926T>C) c.1206T>C c.696T>C (p.His232=) c.1305T>C (p.His435=) c.1329T>C (p.His443=) c.1992T>C (n.1992T>C) c.*1510T>C (n.*1510T>C) c.*529T>C (n.*529T>C) c.1263T>C (p.His421=) c.1239T>C (p.His413=) n.603T>C n.6276T>C c.767T>C c.1242T>C (p.His414=) c.1398T>C (p.His466=) c.1449T>C (p.His483=) c.*907T>C (n.*907T>C) c.1426T>C (n.1426T>C) c.1320T>C (p.His440=) c.*163T>C (n.*163T>C) c.1326T>C (p.His442=) c.1302T>C (p.His434=) c.1368T>C (p.His456=) c.885T>C (p.His295=) c.909T>C (p.His303=) | gnomAD v4 |
5 | g.162153269T>G | CA362183835 | GABRG2 | c.1330T>G c.1425T>G (p.His475Gln) c.1388T>G n.583T>G c.1020T>G (p.His340Gln) c.1044T>G (p.His348Gln) c.*3926T>G (n.*3926T>G) c.1206T>G c.696T>G (p.His232Gln) c.1305T>G (p.His435Gln) c.1329T>G (p.His443Gln) c.1992T>G (n.1992T>G) c.*1510T>G (n.*1510T>G) c.*529T>G (n.*529T>G) c.1263T>G (p.His421Gln) c.1239T>G (p.His413Gln) n.603T>G n.6276T>G c.767T>G c.1242T>G (p.His414Gln) c.1398T>G (p.His466Gln) c.1449T>G (p.His483Gln) c.*907T>G (n.*907T>G) c.1426T>G (n.1426T>G) c.1320T>G (p.His440Gln) c.*163T>G (n.*163T>G) c.1326T>G (p.His442Gln) c.1302T>G (p.His434Gln) c.1368T>G (p.His456Gln) c.885T>G (p.His295Gln) c.909T>G (p.His303Gln) | |
5 | g.162153270A>C | CA362183837 | GABRG2 | c.1331A>C c.1426A>C (p.Ile476Leu) c.1389A>C n.584A>C c.1021A>C (p.Ile341Leu) c.1045A>C (p.Ile349Leu) c.*3927A>C (n.*3927A>C) c.1207A>C c.697A>C (p.Ile233Leu) c.1306A>C (p.Ile436Leu) c.1330A>C (p.Ile444Leu) c.1993A>C (n.1993A>C) c.*1511A>C (n.*1511A>C) c.*530A>C (n.*530A>C) c.1264A>C (p.Ile422Leu) c.1240A>C (p.Ile414Leu) n.604A>C n.6277A>C c.768A>C c.1243A>C (p.Ile415Leu) c.1399A>C (p.Ile467Leu) c.1450A>C (p.Ile484Leu) c.*908A>C (n.*908A>C) c.1427A>C (n.1427A>C) c.1321A>C (p.Ile441Leu) c.*164A>C (n.*164A>C) c.1327A>C (p.Ile443Leu) c.1303A>C (p.Ile435Leu) c.1369A>C (p.Ile457Leu) c.886A>C (p.Ile296Leu) c.910A>C (p.Ile304Leu) | |
5 | g.162153270A>G | CA362183839 | GABRG2 | c.1331A>G c.1426A>G (p.Ile476Val) c.1389A>G n.584A>G c.1021A>G (p.Ile341Val) c.1045A>G (p.Ile349Val) c.*3927A>G (n.*3927A>G) c.1207A>G c.697A>G (p.Ile233Val) c.1306A>G (p.Ile436Val) c.1330A>G (p.Ile444Val) c.1993A>G (n.1993A>G) c.*1511A>G (n.*1511A>G) c.*530A>G (n.*530A>G) c.1264A>G (p.Ile422Val) c.1240A>G (p.Ile414Val) n.604A>G n.6277A>G c.768A>G c.1243A>G (p.Ile415Val) c.1399A>G (p.Ile467Val) c.1450A>G (p.Ile484Val) c.*908A>G (n.*908A>G) c.1427A>G (n.1427A>G) c.1321A>G (p.Ile441Val) c.*164A>G (n.*164A>G) c.1327A>G (p.Ile443Val) c.1303A>G (p.Ile435Val) c.1369A>G (p.Ile457Val) c.886A>G (p.Ile296Val) c.910A>G (p.Ile304Val) | gnomAD v4 |
5 | g.162153270A>T | CA362183840 | GABRG2 | c.1331A>T c.1426A>T (p.Ile476Phe) c.1389A>T n.584A>T c.1021A>T (p.Ile341Phe) c.1045A>T (p.Ile349Phe) c.*3927A>T (n.*3927A>T) c.1207A>T c.697A>T (p.Ile233Phe) c.1306A>T (p.Ile436Phe) c.1330A>T (p.Ile444Phe) c.1993A>T (n.1993A>T) c.*1511A>T (n.*1511A>T) c.*530A>T (n.*530A>T) c.1264A>T (p.Ile422Phe) c.1240A>T (p.Ile414Phe) n.604A>T n.6277A>T c.768A>T c.1243A>T (p.Ile415Phe) c.1399A>T (p.Ile467Phe) c.1450A>T (p.Ile484Phe) c.*908A>T (n.*908A>T) c.1427A>T (n.1427A>T) c.1321A>T (p.Ile441Phe) c.*164A>T (n.*164A>T) c.1327A>T (p.Ile443Phe) c.1303A>T (p.Ile435Phe) c.1369A>T (p.Ile457Phe) c.886A>T (p.Ile296Phe) c.910A>T (p.Ile304Phe) | |
5 | g.162153271T>A | CA362183846 | GABRG2 | c.1332T>A c.1427T>A (p.Ile476Asn) c.1390T>A n.585T>A c.1022T>A (p.Ile341Asn) c.1046T>A (p.Ile349Asn) c.*3928T>A (n.*3928T>A) c.1208T>A c.698T>A (p.Ile233Asn) c.1307T>A (p.Ile436Asn) c.1331T>A (p.Ile444Asn) c.1994T>A (n.1994T>A) c.*1512T>A (n.*1512T>A) c.*531T>A (n.*531T>A) c.1265T>A (p.Ile422Asn) c.1241T>A (p.Ile414Asn) n.605T>A n.6278T>A c.769T>A c.1244T>A (p.Ile415Asn) c.1400T>A (p.Ile467Asn) c.1451T>A (p.Ile484Asn) c.*909T>A (n.*909T>A) c.1428T>A (n.1428T>A) c.1322T>A (p.Ile441Asn) c.*165T>A (n.*165T>A) c.1328T>A (p.Ile443Asn) c.1304T>A (p.Ile435Asn) c.1370T>A (p.Ile457Asn) c.887T>A (p.Ile296Asn) c.911T>A (p.Ile304Asn) | |
5 | g.162153271T>C | CA362183843 | GABRG2 | c.1332T>C c.1427T>C (p.Ile476Thr) c.1390T>C n.585T>C c.1022T>C (p.Ile341Thr) c.1046T>C (p.Ile349Thr) c.*3928T>C (n.*3928T>C) c.1208T>C c.698T>C (p.Ile233Thr) c.1307T>C (p.Ile436Thr) c.1331T>C (p.Ile444Thr) c.1994T>C (n.1994T>C) c.*1512T>C (n.*1512T>C) c.*531T>C (n.*531T>C) c.1265T>C (p.Ile422Thr) c.1241T>C (p.Ile414Thr) n.605T>C n.6278T>C c.769T>C c.1244T>C (p.Ile415Thr) c.1400T>C (p.Ile467Thr) c.1451T>C (p.Ile484Thr) c.*909T>C (n.*909T>C) c.1428T>C (n.1428T>C) c.1322T>C (p.Ile441Thr) c.*165T>C (n.*165T>C) c.1328T>C (p.Ile443Thr) c.1304T>C (p.Ile435Thr) c.1370T>C (p.Ile457Thr) c.887T>C (p.Ile296Thr) c.911T>C (p.Ile304Thr) | ClinVar dbSNP |
5 | g.162153271T>G | CA362183844 | GABRG2 | c.1332T>G c.1427T>G (p.Ile476Ser) c.1390T>G n.585T>G c.1022T>G (p.Ile341Ser) c.1046T>G (p.Ile349Ser) c.*3928T>G (n.*3928T>G) c.1208T>G c.698T>G (p.Ile233Ser) c.1307T>G (p.Ile436Ser) c.1331T>G (p.Ile444Ser) c.1994T>G (n.1994T>G) c.*1512T>G (n.*1512T>G) c.*531T>G (n.*531T>G) c.1265T>G (p.Ile422Ser) c.1241T>G (p.Ile414Ser) n.605T>G n.6278T>G c.769T>G c.1244T>G (p.Ile415Ser) c.1400T>G (p.Ile467Ser) c.1451T>G (p.Ile484Ser) c.*909T>G (n.*909T>G) c.1428T>G (n.1428T>G) c.1322T>G (p.Ile441Ser) c.*165T>G (n.*165T>G) c.1328T>G (p.Ile443Ser) c.1304T>G (p.Ile435Ser) c.1370T>G (p.Ile457Ser) c.887T>G (p.Ile296Ser) c.911T>G (p.Ile304Ser) | gnomAD v4 |
5 | g.162153271T= | CA1596382164 | GABRG2 | c.1332T= c.1427T= (p.Ile476=) c.1390T= n.585T= c.1022T= (p.Ile341=) c.1046T= (p.Ile349=) c.*3928T= (n.*3928T=) c.1208T= c.698T= (p.Ile233=) c.1307T= (p.Ile436=) c.1331T= (p.Ile444=) c.1994T= (n.1994T=) c.*1512T= (n.*1512T=) c.*531T= (n.*531T=) c.1265T= (p.Ile422=) c.1241T= (p.Ile414=) n.605T= n.6278T= c.769T= c.1244T= (p.Ile415=) c.1400T= (p.Ile467=) c.1451T= (p.Ile484=) c.*909T= (n.*909T=) c.1428T= (n.1428T=) c.1322T= (p.Ile441=) c.*165T= (n.*165T=) c.1328T= (p.Ile443=) c.1304T= (p.Ile435=) c.1370T= (p.Ile457=) c.887T= (p.Ile296=) c.911T= (p.Ile304=) |