Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.151822713A=CA1591565200GLRA1c.1310T= (p.Ile437=)
c.1334T= (p.Ile445=)
c.*1068T= (n.*1068T=)
c.1061T= (p.Ile354=)
5g.151822713A>CCA361849694GLRA1c.1310T>G (p.Ile437Ser)
c.1334T>G (p.Ile445Ser)
c.*1068T>G (n.*1068T>G)
c.1061T>G (p.Ile354Ser)
5g.151822713A>GCA361849696GLRA1c.1310T>C (p.Ile437Thr)
c.1334T>C (p.Ile445Thr)
c.*1068T>C (n.*1068T>C)
c.1061T>C (p.Ile354Thr)
 gnomAD v4
5g.151822713A>TCA361849695GLRA1c.1310T>A (p.Ile437Asn)
c.1334T>A (p.Ile445Asn)
c.*1068T>A (n.*1068T>A)
c.1061T>A (p.Ile354Asn)
 dbSNP gnomAD v2 gnomAD v4
5g.151822714T>ACA3523462GLRA1c.1309A>T (p.Ile437Phe)
c.1333A>T (p.Ile445Phe)
c.*1067A>T (n.*1067A>T)
c.1060A>T (p.Ile354Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.151822714T>CCA361849697GLRA1c.1309A>G (p.Ile437Val)
c.1333A>G (p.Ile445Val)
c.*1067A>G (n.*1067A>G)
c.1060A>G (p.Ile354Val)
 gnomAD v4
5g.151822714T>GCA361849698GLRA1c.1309A>C (p.Ile437Leu)
c.1333A>C (p.Ile445Leu)
c.*1067A>C (n.*1067A>C)
c.1060A>C (p.Ile354Leu)
5g.151822714T=CA1591565201GLRA1c.1309A= (p.Ile437=)
c.1333A= (p.Ile445=)
c.*1067A= (n.*1067A=)
c.1060A= (p.Ile354=)
5g.151822715G>ACA447226529GLRA1c.1308C>T (p.Ile436=)
c.1332C>T (p.Ile444=)
c.*1066C>T (n.*1066C>T)
c.1059C>T (p.Ile353=)
5g.151822715G>CCA361849699GLRA1c.1308C>G (p.Ile436Met)
c.1332C>G (p.Ile444Met)
c.*1066C>G (n.*1066C>G)
c.1059C>G (p.Ile353Met)
5g.151822715G>TCA447226530GLRA1c.1308C>A (p.Ile436=)
c.1332C>A (p.Ile444=)
c.*1066C>A (n.*1066C>A)
c.1059C>A (p.Ile353=)
5g.151822716A>CCA361849700GLRA1c.1307T>G (p.Ile436Ser)
c.1331T>G (p.Ile444Ser)
c.*1065T>G (n.*1065T>G)
c.1058T>G (p.Ile353Ser)
5g.151822716A>GCA361849701GLRA1c.1307T>C (p.Ile436Thr)
c.1331T>C (p.Ile444Thr)
c.*1065T>C (n.*1065T>C)
c.1058T>C (p.Ile353Thr)
5g.151822716A>TCA361849702GLRA1c.1307T>A (p.Ile436Asn)
c.1331T>A (p.Ile444Asn)
c.*1065T>A (n.*1065T>A)
c.1058T>A (p.Ile353Asn)
 gnomAD v4
5g.151822717T>ACA361849703GLRA1c.1306A>T (p.Ile436Phe)
c.1330A>T (p.Ile444Phe)
c.*1064A>T (n.*1064A>T)
c.1057A>T (p.Ile353Phe)
5g.151822717T>CCA361849704GLRA1c.1306A>G (p.Ile436Val)
c.1330A>G (p.Ile444Val)
c.*1064A>G (n.*1064A>G)
c.1057A>G (p.Ile353Val)
5g.151822717T>GCA361849705GLRA1c.1306A>C (p.Ile436Leu)
c.1330A>C (p.Ile444Leu)
c.*1064A>C (n.*1064A>C)
c.1057A>C (p.Ile353Leu)
5g.151822718C>ACA361849706GLRA1c.1305G>T (p.Trp435Cys)
c.1329G>T (p.Trp443Cys)
c.*1063G>T (n.*1063G>T)
c.1056G>T (p.Trp352Cys)
5g.151822718C>GCA361849707GLRA1c.1305G>C (p.Trp435Cys)
c.1329G>C (p.Trp443Cys)
c.*1063G>C (n.*1063G>C)
c.1056G>C (p.Trp352Cys)
5g.151822718C>TCA361849708GLRA1c.1305G>A (p.Trp435Ter)
c.1329G>A (p.Trp443Ter)
c.*1063G>A (n.*1063G>A)
c.1056G>A (p.Trp352Ter)
 gnomAD v4
5g.151822719C>ACA361849709GLRA1c.1304G>T (p.Trp435Leu)
c.1328G>T (p.Trp443Leu)
c.*1062G>T (n.*1062G>T)
c.1055G>T (p.Trp352Leu)
5g.151822719C>GCA361849711GLRA1c.1304G>C (p.Trp435Ser)
c.1328G>C (p.Trp443Ser)
c.*1062G>C (n.*1062G>C)
c.1055G>C (p.Trp352Ser)
5g.151822719C>TCA361849710GLRA1c.1304G>A (p.Trp435Ter)
c.1328G>A (p.Trp443Ter)
c.*1062G>A (n.*1062G>A)
c.1055G>A (p.Trp352Ter)
5g.151822720A=CA1591565202GLRA1c.1303T= (p.Trp435=)
c.1327T= (p.Trp443=)
c.*1061T= (n.*1061T=)
c.1054T= (p.Trp352=)
5g.151822720A>CCA361849712GLRA1c.1303T>G (p.Trp435Gly)
c.1327T>G (p.Trp443Gly)
c.*1061T>G (n.*1061T>G)
c.1054T>G (p.Trp352Gly)
5g.151822720A>GCA3523463GLRA1c.1303T>C (p.Trp435Arg)
c.1327T>C (p.Trp443Arg)
c.*1061T>C (n.*1061T>C)
c.1054T>C (p.Trp352Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.151822720A>TCA361849713GLRA1c.1303T>A (p.Trp435Arg)
c.1327T>A (p.Trp443Arg)
c.*1061T>A (n.*1061T>A)
c.1054T>A (p.Trp352Arg)
5g.151822721G>ACA447226531GLRA1c.1302C>T (p.Tyr434=)
c.1326C>T (p.Tyr442=)
c.*1060C>T (n.*1060C>T)
c.1053C>T (p.Tyr351=)
5g.151822721G>CCA361849714GLRA1c.1302C>G (p.Tyr434Ter)
c.1326C>G (p.Tyr442Ter)
c.*1060C>G (n.*1060C>G)
c.1053C>G (p.Tyr351Ter)
5g.151822721G>TCA361849715GLRA1c.1302C>A (p.Tyr434Ter)
c.1326C>A (p.Tyr442Ter)
c.*1060C>A (n.*1060C>A)
c.1053C>A (p.Tyr351Ter)
 gnomAD v4
5g.151822722T>ACA361849716GLRA1c.1301A>T (p.Tyr434Phe)
c.1325A>T (p.Tyr442Phe)
c.*1059A>T (n.*1059A>T)
c.1052A>T (p.Tyr351Phe)
5g.151822722T>CCA361849717GLRA1c.1301A>G (p.Tyr434Cys)
c.1325A>G (p.Tyr442Cys)
c.*1059A>G (n.*1059A>G)
c.1052A>G (p.Tyr351Cys)
 gnomAD v4
5g.151822722T>GCA361849718GLRA1c.1301A>C (p.Tyr434Ser)
c.1325A>C (p.Tyr442Ser)
c.*1059A>C (n.*1059A>C)
c.1052A>C (p.Tyr351Ser)
5g.151822723A>CCA361849719GLRA1c.1300T>G (p.Tyr434Asp)
c.1324T>G (p.Tyr442Asp)
c.*1058T>G (n.*1058T>G)
c.1051T>G (p.Tyr351Asp)
 gnomAD v4
5g.151822723A>GCA361849720GLRA1c.1300T>C (p.Tyr434His)
c.1324T>C (p.Tyr442His)
c.*1058T>C (n.*1058T>C)
c.1051T>C (p.Tyr351His)
5g.151822723A>TCA361849721GLRA1c.1300T>A (p.Tyr434Asn)
c.1324T>A (p.Tyr442Asn)
c.*1058T>A (n.*1058T>A)
c.1051T>A (p.Tyr351Asn)
5g.151822724G>ACA447226532GLRA1c.1299C>T (p.Phe433=)
c.1323C>T (p.Phe441=)
c.*1057C>T (n.*1057C>T)
c.1050C>T (p.Phe350=)
 gnomAD v4
5g.151822724G>CCA361849723GLRA1c.1299C>G (p.Phe433Leu)
c.1323C>G (p.Phe441Leu)
c.*1057C>G (n.*1057C>G)
c.1050C>G (p.Phe350Leu)
5g.151822724G>TCA361849722GLRA1c.1299C>A (p.Phe433Leu)
c.1323C>A (p.Phe441Leu)
c.*1057C>A (n.*1057C>A)
c.1050C>A (p.Phe350Leu)
5g.151822725A>CCA361849724GLRA1c.1298T>G (p.Phe433Cys)
c.1322T>G (p.Phe441Cys)
c.*1056T>G (n.*1056T>G)
c.1049T>G (p.Phe350Cys)
5g.151822725A>GCA361849726GLRA1c.1298T>C (p.Phe433Ser)
c.1322T>C (p.Phe441Ser)
c.*1056T>C (n.*1056T>C)
c.1049T>C (p.Phe350Ser)
5g.151822725A>TCA361849725GLRA1c.1298T>A (p.Phe433Tyr)
c.1322T>A (p.Phe441Tyr)
c.*1056T>A (n.*1056T>A)
c.1049T>A (p.Phe350Tyr)
5g.151822726A>CCA361849727GLRA1c.1297T>G (p.Phe433Val)
c.1321T>G (p.Phe441Val)
c.*1055T>G (n.*1055T>G)
c.1048T>G (p.Phe350Val)
5g.151822726A>GCA361849728GLRA1c.1297T>C (p.Phe433Leu)
c.1321T>C (p.Phe441Leu)
c.*1055T>C (n.*1055T>C)
c.1048T>C (p.Phe350Leu)
5g.151822726A>TCA361849729GLRA1c.1297T>A (p.Phe433Ile)
c.1321T>A (p.Phe441Ile)
c.*1055T>A (n.*1055T>A)
c.1048T>A (p.Phe350Ile)
5g.151822727C>ACA3523464GLRA1c.1296G>T (p.Met432Ile)
c.1320G>T (p.Met440Ile)
c.*1054G>T (n.*1054G>T)
c.1047G>T (p.Met349Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.151822727C=CA1591565203GLRA1c.1296G= (p.Met432=)
c.1320G= (p.Met440=)
c.*1054G= (n.*1054G=)
c.1047G= (p.Met349=)
5g.151822727C>GCA361849730GLRA1c.1296G>C (p.Met432Ile)
c.1320G>C (p.Met440Ile)
c.*1054G>C (n.*1054G>C)
c.1047G>C (p.Met349Ile)
 dbSNP gnomAD v2 gnomAD v4
5g.151822727C>TCA361849731GLRA1c.1296G>A (p.Met432Ile)
c.1320G>A (p.Met440Ile)
c.*1054G>A (n.*1054G>A)
c.1047G>A (p.Met349Ile)
 gnomAD v4
5g.151822728A=CA1591565204GLRA1c.1295T= (p.Met432=)
c.1319T= (p.Met440=)
c.*1053T= (n.*1053T=)
c.1046T= (p.Met349=)
5g.151822728A>CCA361849734GLRA1c.1295T>G (p.Met432Arg)
c.1319T>G (p.Met440Arg)
c.*1053T>G (n.*1053T>G)
c.1046T>G (p.Met349Arg)
5g.151822728A>GCA361849732GLRA1c.1295T>C (p.Met432Thr)
c.1319T>C (p.Met440Thr)
c.*1053T>C (n.*1053T>C)
c.1046T>C (p.Met349Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.151822728A>TCA361849733GLRA1c.1295T>A (p.Met432Lys)
c.1319T>A (p.Met440Lys)
c.*1053T>A (n.*1053T>A)
c.1046T>A (p.Met349Lys)
5g.151822729T>ACA361849735GLRA1c.1294A>T (p.Met432Leu)
c.1318A>T (p.Met440Leu)
c.*1052A>T (n.*1052A>T)
c.1045A>T (p.Met349Leu)
5g.151822729T>CCA361849736GLRA1c.1294A>G (p.Met432Val)
c.1318A>G (p.Met440Val)
c.*1052A>G (n.*1052A>G)
c.1045A>G (p.Met349Val)
5g.151822729T>GCA361849737GLRA1c.1294A>C (p.Met432Leu)
c.1318A>C (p.Met440Leu)
c.*1052A>C (n.*1052A>C)
c.1045A>C (p.Met349Leu)
5g.151822730G>ACA447226533GLRA1c.1293C>T (p.Asn431=)
c.1317C>T (p.Asn439=)
c.*1051C>T (n.*1051C>T)
c.1044C>T (p.Asn348=)
 ClinVar dbSNP gnomAD v4
5g.151822730G>CCA361849738GLRA1c.1293C>G (p.Asn431Lys)
c.1317C>G (p.Asn439Lys)
c.*1051C>G (n.*1051C>G)
c.1044C>G (p.Asn348Lys)
5g.151822730G=CA1591565205GLRA1c.1293C= (p.Asn431=)
c.1317C= (p.Asn439=)
c.*1051C= (n.*1051C=)
c.1044C= (p.Asn348=)
5g.151822730G>TCA361849739GLRA1c.1293C>A (p.Asn431Lys)
c.1317C>A (p.Asn439Lys)
c.*1051C>A (n.*1051C>A)
c.1044C>A (p.Asn348Lys)
5g.151822731T>ACA361849740GLRA1c.1292A>T (p.Asn431Ile)
c.1316A>T (p.Asn439Ile)
c.*1050A>T (n.*1050A>T)
c.1043A>T (p.Asn348Ile)
 gnomAD v4
5g.151822731T>CCA3523465GLRA1c.1292A>G (p.Asn431Ser)
c.1316A>G (p.Asn439Ser)
c.*1050A>G (n.*1050A>G)
c.1043A>G (p.Asn348Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.151822731T>GCA361849741GLRA1c.1292A>C (p.Asn431Thr)
c.1316A>C (p.Asn439Thr)
c.*1050A>C (n.*1050A>C)
c.1043A>C (p.Asn348Thr)
5g.151822731T=CA1591565206GLRA1c.1292A= (p.Asn431=)
c.1316A= (p.Asn439=)
c.*1050A= (n.*1050A=)
c.1043A= (p.Asn348=)
5g.151822732T>ACA361849742GLRA1c.1291A>T (p.Asn431Tyr)
c.1315A>T (p.Asn439Tyr)
c.*1049A>T (n.*1049A>T)
c.1042A>T (p.Asn348Tyr)
5g.151822732T>CCA361849743GLRA1c.1291A>G (p.Asn431Asp)
c.1315A>G (p.Asn439Asp)
c.*1049A>G (n.*1049A>G)
c.1042A>G (p.Asn348Asp)
5g.151822732T>GCA361849744GLRA1c.1291A>C (p.Asn431His)
c.1315A>C (p.Asn439His)
c.*1049A>C (n.*1049A>C)
c.1042A>C (p.Asn348His)
5g.151822733G>ACA447226534GLRA1c.1290C>T (p.Phe430=)
c.1314C>T (p.Phe438=)
c.*1048C>T (n.*1048C>T)
c.1041C>T (p.Phe347=)
5g.151822733G>CCA361849745GLRA1c.1290C>G (p.Phe430Leu)
c.1314C>G (p.Phe438Leu)
c.*1048C>G (n.*1048C>G)
c.1041C>G (p.Phe347Leu)
5g.151822733G>TCA361849746GLRA1c.1290C>A (p.Phe430Leu)
c.1314C>A (p.Phe438Leu)
c.*1048C>A (n.*1048C>A)
c.1041C>A (p.Phe347Leu)
5g.151822734A>CCA361849747GLRA1c.1289T>G (p.Phe430Cys)
c.1313T>G (p.Phe438Cys)
c.*1047T>G (n.*1047T>G)
c.1040T>G (p.Phe347Cys)
5g.151822734A>GCA361849748GLRA1c.1289T>C (p.Phe430Ser)
c.1313T>C (p.Phe438Ser)
c.*1047T>C (n.*1047T>C)
c.1040T>C (p.Phe347Ser)
5g.151822734A>TCA361849749GLRA1c.1289T>A (p.Phe430Tyr)
c.1313T>A (p.Phe438Tyr)
c.*1047T>A (n.*1047T>A)
c.1040T>A (p.Phe347Tyr)
5g.151822735A>CCA361849750GLRA1c.1288T>G (p.Phe430Val)
c.1312T>G (p.Phe438Val)
c.*1046T>G (n.*1046T>G)
c.1039T>G (p.Phe347Val)
 gnomAD v4
5g.151822735A>GCA361849751GLRA1c.1288T>C (p.Phe430Leu)
c.1312T>C (p.Phe438Leu)
c.*1046T>C (n.*1046T>C)
c.1039T>C (p.Phe347Leu)
5g.151822735A>TCA361849752GLRA1c.1288T>A (p.Phe430Ile)
c.1312T>A (p.Phe438Ile)
c.*1046T>A (n.*1046T>A)
c.1039T>A (p.Phe347Ile)
5g.151822736A=CA1591565207GLRA1c.1287T= (p.Ile429=)
c.1311T= (p.Ile437=)
c.*1045T= (n.*1045T=)
c.1038T= (p.Ile346=)
5g.151822736A>CCA361849753GLRA1c.1287T>G (p.Ile429Met)
c.1311T>G (p.Ile437Met)
c.*1045T>G (n.*1045T>G)
c.1038T>G (p.Ile346Met)
5g.151822736A>GCA447226535GLRA1c.1287T>C (p.Ile429=)
c.1311T>C (p.Ile437=)
c.*1045T>C (n.*1045T>C)
c.1038T>C (p.Ile346=)
 dbSNP
5g.151822736A>TCA447226536GLRA1c.1287T>A (p.Ile429=)
c.1311T>A (p.Ile437=)
c.*1045T>A (n.*1045T>A)
c.1038T>A (p.Ile346=)
5g.151822737A>CCA361849756GLRA1c.1286T>G (p.Ile429Ser)
c.1310T>G (p.Ile437Ser)
c.*1044T>G (n.*1044T>G)
c.1037T>G (p.Ile346Ser)
5g.151822737A>GCA361849754GLRA1c.1286T>C (p.Ile429Thr)
c.1310T>C (p.Ile437Thr)
c.*1044T>C (n.*1044T>C)
c.1037T>C (p.Ile346Thr)
 ClinVar dbSNP gnomAD v4
5g.151822737A>TCA361849755GLRA1c.1286T>A (p.Ile429Asn)
c.1310T>A (p.Ile437Asn)
c.*1044T>A (n.*1044T>A)
c.1037T>A (p.Ile346Asn)
5g.151822738T>ACA361849757GLRA1c.1285A>T (p.Ile429Phe)
c.1309A>T (p.Ile437Phe)
c.*1043A>T (n.*1043A>T)
c.1036A>T (p.Ile346Phe)
5g.151822738T>CCA361849758GLRA1c.1285A>G (p.Ile429Val)
c.1309A>G (p.Ile437Val)
c.*1043A>G (n.*1043A>G)
c.1036A>G (p.Ile346Val)
 gnomAD v4 COSMIC
5g.151822738T>GCA361849759GLRA1c.1285A>C (p.Ile429Leu)
c.1309A>C (p.Ile437Leu)
c.*1043A>C (n.*1043A>C)
c.1036A>C (p.Ile346Leu)
5g.151822739G>ACA447226539GLRA1c.1284C>T (p.Leu428=)
c.1308C>T (p.Leu436=)
c.*1042C>T (n.*1042C>T)
c.1035C>T (p.Leu345=)
 ClinVar dbSNP
5g.151822739G>CCA447226537GLRA1c.1284C>G (p.Leu428=)
c.1308C>G (p.Leu436=)
c.*1042C>G (n.*1042C>G)
c.1035C>G (p.Leu345=)
5g.151822739G=CA1591565208GLRA1c.1284C= (p.Leu428=)
c.1308C= (p.Leu436=)
c.*1042C= (n.*1042C=)
c.1035C= (p.Leu345=)
5g.151822739G>TCA447226538GLRA1c.1284C>A (p.Leu428=)
c.1308C>A (p.Leu436=)
c.*1042C>A (n.*1042C>A)
c.1035C>A (p.Leu345=)
5g.151822740A>CCA361849760GLRA1c.1283T>G (p.Leu428Arg)
c.1307T>G (p.Leu436Arg)
c.*1041T>G (n.*1041T>G)
c.1034T>G (p.Leu345Arg)
 gnomAD v4
5g.151822740A>GCA361849761GLRA1c.1283T>C (p.Leu428Pro)
c.1307T>C (p.Leu436Pro)
c.*1041T>C (n.*1041T>C)
c.1034T>C (p.Leu345Pro)
5g.151822740A>TCA361849762GLRA1c.1283T>A (p.Leu428His)
c.1307T>A (p.Leu436His)
c.*1041T>A (n.*1041T>A)
c.1034T>A (p.Leu345His)
5g.151822741G>ACA361849763GLRA1c.1282C>T (p.Leu428Phe)
c.1306C>T (p.Leu436Phe)
c.*1040C>T (n.*1040C>T)
c.1033C>T (p.Leu345Phe)
5g.151822741G>CCA361849764GLRA1c.1282C>G (p.Leu428Val)
c.1306C>G (p.Leu436Val)
c.*1040C>G (n.*1040C>G)
c.1033C>G (p.Leu345Val)
5g.151822741G>TCA361849765GLRA1c.1282C>A (p.Leu428Ile)
c.1306C>A (p.Leu436Ile)
c.*1040C>A (n.*1040C>A)
c.1033C>A (p.Leu345Ile)
5g.151822742delCA2676107589GLRA1c.1282del (p.Leu428SerfsTer?)
c.1306del (p.Leu436SerfsTer?)
c.*1040del (n.*1040del)
c.1033del (p.Leu345SerfsTer?)
 gnomAD v4
5g.151822742G>ACA447226541GLRA1c.1281C>T (p.Phe427=)
c.1305C>T (p.Phe435=)
c.*1039C>T (n.*1039C>T)
c.1032C>T (p.Phe344=)
5g.151822742G>CCA361849766GLRA1c.1281C>G (p.Phe427Leu)
c.1305C>G (p.Phe435Leu)
c.*1039C>G (n.*1039C>G)
c.1032C>G (p.Phe344Leu)
 gnomAD v4
5g.151822742G>TCA361849767GLRA1c.1281C>A (p.Phe427Leu)
c.1305C>A (p.Phe435Leu)
c.*1039C>A (n.*1039C>A)
c.1032C>A (p.Phe344Leu)
5g.151822743A>CCA361849770GLRA1c.1280T>G (p.Phe427Cys)
c.1304T>G (p.Phe435Cys)
c.*1038T>G (n.*1038T>G)
c.1031T>G (p.Phe344Cys)
5g.151822743A>GCA361849768GLRA1c.1280T>C (p.Phe427Ser)
c.1304T>C (p.Phe435Ser)
c.*1038T>C (n.*1038T>C)
c.1031T>C (p.Phe344Ser)
 gnomAD v4
5g.151822743A>TCA361849769GLRA1c.1280T>A (p.Phe427Tyr)
c.1304T>A (p.Phe435Tyr)
c.*1038T>A (n.*1038T>A)
c.1031T>A (p.Phe344Tyr)
5g.151822744A=CA1591565209GLRA1c.1279T= (p.Phe427=)
c.1303T= (p.Phe435=)
c.*1037T= (n.*1037T=)
c.1030T= (p.Phe344=)
5g.151822744A>CCA361849771GLRA1c.1279T>G (p.Phe427Val)
c.1303T>G (p.Phe435Val)
c.*1037T>G (n.*1037T>G)
c.1030T>G (p.Phe344Val)
5g.151822744A>GCA361849772GLRA1c.1279T>C (p.Phe427Leu)
c.1303T>C (p.Phe435Leu)
c.*1037T>C (n.*1037T>C)
c.1030T>C (p.Phe344Leu)
 dbSNP
5g.151822744A>TCA361849773GLRA1c.1279T>A (p.Phe427Ile)
c.1303T>A (p.Phe435Ile)
c.*1037T>A (n.*1037T>A)
c.1030T>A (p.Phe344Ile)
5g.151822745G>ACA130006147GLRA1c.1278C>T (p.Ala426=)
c.1302C>T (p.Ala434=)
c.*1036C>T (n.*1036C>T)
c.1029C>T (p.Ala343=)
 dbSNP
5g.151822745G>CCA447226542GLRA1c.1278C>G (p.Ala426=)
c.1302C>G (p.Ala434=)
c.*1036C>G (n.*1036C>G)
c.1029C>G (p.Ala343=)
5g.151822745G=CA1591565210GLRA1c.1278C= (p.Ala426=)
c.1302C= (p.Ala434=)
c.*1036C= (n.*1036C=)
c.1029C= (p.Ala343=)
5g.151822745G>TCA447226543GLRA1c.1278C>A (p.Ala426=)
c.1302C>A (p.Ala434=)
c.*1036C>A (n.*1036C>A)
c.1029C>A (p.Ala343=)
5g.151822746G>ACA361849774GLRA1c.1277C>T (p.Ala426Val)
c.1301C>T (p.Ala434Val)
c.*1035C>T (n.*1035C>T)
c.1028C>T (p.Ala343Val)
5g.151822746G>CCA361849775GLRA1c.1277C>G (p.Ala426Gly)
c.1301C>G (p.Ala434Gly)
c.*1035C>G (n.*1035C>G)
c.1028C>G (p.Ala343Gly)
5g.151822746G=CA1591565211GLRA1c.1277C= (p.Ala426=)
c.1301C= (p.Ala434=)
c.*1035C= (n.*1035C=)
c.1028C= (p.Ala343=)
5g.151822746G>TCA130006148GLRA1c.1277C>A (p.Ala426Asp)
c.1301C>A (p.Ala434Asp)
c.*1035C>A (n.*1035C>A)
c.1028C>A (p.Ala343Asp)
 dbSNP gnomAD v3 gnomAD v4
5g.151822747C>ACA361849776GLRA1c.1276G>T (p.Ala426Ser)
c.1300G>T (p.Ala434Ser)
c.*1034G>T (n.*1034G>T)
c.1027G>T (p.Ala343Ser)
5g.151822747C>GCA361849777GLRA1c.1276G>C (p.Ala426Pro)
c.1300G>C (p.Ala434Pro)
c.*1034G>C (n.*1034G>C)
c.1027G>C (p.Ala343Pro)
5g.151822747C>TCA361849778GLRA1c.1276G>A (p.Ala426Thr)
c.1300G>A (p.Ala434Thr)
c.*1034G>A (n.*1034G>A)
c.1027G>A (p.Ala343Thr)
5g.151822748C>ACA361849779GLRA1c.1275G>T (p.Met425Ile)
c.1299G>T (p.Met433Ile)
c.*1033G>T (n.*1033G>T)
c.1026G>T (p.Met342Ile)
5g.151822748C>GCA361849780GLRA1c.1275G>C (p.Met425Ile)
c.1299G>C (p.Met433Ile)
c.*1033G>C (n.*1033G>C)
c.1026G>C (p.Met342Ile)
5g.151822748C>TCA361849781GLRA1c.1275G>A (p.Met425Ile)
c.1299G>A (p.Met433Ile)
c.*1033G>A (n.*1033G>A)
c.1026G>A (p.Met342Ile)
 COSMIC
5g.151822749A=CA1591565212GLRA1c.1274T= (p.Met425=)
c.1298T= (p.Met433=)
c.*1032T= (n.*1032T=)
c.1025T= (p.Met342=)
5g.151822749A>CCA361849783GLRA1c.1274T>G (p.Met425Arg)
c.1298T>G (p.Met433Arg)
c.*1032T>G (n.*1032T>G)
c.1025T>G (p.Met342Arg)
5g.151822749A>GCA3523466GLRA1c.1274T>C (p.Met425Thr)
c.1298T>C (p.Met433Thr)
c.*1032T>C (n.*1032T>C)
c.1025T>C (p.Met342Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.151822749A>TCA361849782GLRA1c.1274T>A (p.Met425Lys)
c.1298T>A (p.Met433Lys)
c.*1032T>A (n.*1032T>A)
c.1025T>A (p.Met342Lys)
 dbSNP
5g.151822750T>ACA361849784GLRA1c.1273A>T (p.Met425Leu)
c.1297A>T (p.Met433Leu)
c.*1031A>T (n.*1031A>T)
c.1024A>T (p.Met342Leu)
5g.151822750T>CCA130006153GLRA1c.1273A>G (p.Met425Val)
c.1297A>G (p.Met433Val)
c.*1031A>G (n.*1031A>G)
c.1024A>G (p.Met342Val)
 ClinVar dbSNP gnomAD v4
5g.151822750T>GCA361849785GLRA1c.1273A>C (p.Met425Leu)
c.1297A>C (p.Met433Leu)
c.*1031A>C (n.*1031A>C)
c.1024A>C (p.Met342Leu)
5g.151822750T=CA1591565213GLRA1c.1273A= (p.Met425=)
c.1297A= (p.Met433=)
c.*1031A= (n.*1031A=)
c.1024A= (p.Met342=)
5g.151822751G>ACA447226544GLRA1c.1272C>T (p.Pro424=)
c.1296C>T (p.Pro432=)
c.*1030C>T (n.*1030C>T)
c.1023C>T (p.Pro341=)
5g.151822751G>CCA447226545GLRA1c.1272C>G (p.Pro424=)
c.1296C>G (p.Pro432=)
c.*1030C>G (n.*1030C>G)
c.1023C>G (p.Pro341=)
5g.151822751G>TCA447226546GLRA1c.1272C>A (p.Pro424=)
c.1296C>A (p.Pro432=)
c.*1030C>A (n.*1030C>A)
c.1023C>A (p.Pro341=)
 gnomAD v4
5g.151822753_151822754dupCA563632967GLRA1c.1271_1272dup (p.Met425ProfsTer?)
c.1295_1296dup (p.Met433ProfsTer?)
c.*1029_*1030dup (n.*1029_*1030dup)
c.1022_1023dup (p.Met342ProfsTer?)
 dbSNP gnomAD v2 gnomAD v4
5g.151822752G>ACA361849786GLRA1c.1271C>T (p.Pro424Leu)
c.1295C>T (p.Pro432Leu)
c.*1029C>T (n.*1029C>T)
c.1022C>T (p.Pro341Leu)
5g.151822752G>CCA361849787GLRA1c.1271C>G (p.Pro424Arg)
c.1295C>G (p.Pro432Arg)
c.*1029C>G (n.*1029C>G)
c.1022C>G (p.Pro341Arg)
5g.151822752G>TCA361849788GLRA1c.1271C>A (p.Pro424His)
c.1295C>A (p.Pro432His)
c.*1029C>A (n.*1029C>A)
c.1022C>A (p.Pro341His)
5g.151822753G>ACA361849789GLRA1c.1270C>T (p.Pro424Ser)
c.1294C>T (p.Pro432Ser)
c.*1028C>T (n.*1028C>T)
c.1021C>T (p.Pro341Ser)
5g.151822753G>CCA361849790GLRA1c.1270C>G (p.Pro424Ala)
c.1294C>G (p.Pro432Ala)
c.*1028C>G (n.*1028C>G)
c.1021C>G (p.Pro341Ala)
5g.151822753G>TCA361849791GLRA1c.1270C>A (p.Pro424Thr)
c.1294C>A (p.Pro432Thr)
c.*1028C>A (n.*1028C>A)
c.1021C>A (p.Pro341Thr)
5g.151822754G>ACA447226548GLRA1c.1269C>T (p.Phe423=)
c.1293C>T (p.Phe431=)
c.*1027C>T (n.*1027C>T)
c.1020C>T (p.Phe340=)
5g.151822754G>CCA361849793GLRA1c.1269C>G (p.Phe423Leu)
c.1293C>G (p.Phe431Leu)
c.*1027C>G (n.*1027C>G)
c.1020C>G (p.Phe340Leu)
5g.151822754G>TCA361849792GLRA1c.1269C>A (p.Phe423Leu)
c.1293C>A (p.Phe431Leu)
c.*1027C>A (n.*1027C>A)
c.1020C>A (p.Phe340Leu)
5g.151822755A>CCA361849794GLRA1c.1268T>G (p.Phe423Cys)
c.1292T>G (p.Phe431Cys)
c.*1026T>G (n.*1026T>G)
c.1019T>G (p.Phe340Cys)
5g.151822755A>GCA361849795GLRA1c.1268T>C (p.Phe423Ser)
c.1292T>C (p.Phe431Ser)
c.*1026T>C (n.*1026T>C)
c.1019T>C (p.Phe340Ser)
5g.151822755A>TCA361849796GLRA1c.1268T>A (p.Phe423Tyr)
c.1292T>A (p.Phe431Tyr)
c.*1026T>A (n.*1026T>A)
c.1019T>A (p.Phe340Tyr)
5g.151822756A>CCA361849797GLRA1c.1267T>G (p.Phe423Val)
c.1291T>G (p.Phe431Val)
c.*1025T>G (n.*1025T>G)
c.1018T>G (p.Phe340Val)
5g.151822756A>GCA361849798GLRA1c.1267T>C (p.Phe423Leu)
c.1291T>C (p.Phe431Leu)
c.*1025T>C (n.*1025T>C)
c.1018T>C (p.Phe340Leu)
 gnomAD v4
5g.151822756A>TCA361849799GLRA1c.1267T>A (p.Phe423Ile)
c.1291T>A (p.Phe431Ile)
c.*1025T>A (n.*1025T>A)
c.1018T>A (p.Phe340Ile)
5g.151822757G>ACA447226549GLRA1c.1266C>T (p.Gly422=)
c.1290C>T (p.Gly430=)
c.*1024C>T (n.*1024C>T)
c.1017C>T (p.Gly339=)
5g.151822757G>CCA447226550GLRA1c.1266C>G (p.Gly422=)
c.1290C>G (p.Gly430=)
c.*1024C>G (n.*1024C>G)
c.1017C>G (p.Gly339=)
5g.151822757G>TCA447226551GLRA1c.1266C>A (p.Gly422=)
c.1290C>A (p.Gly430=)
c.*1024C>A (n.*1024C>A)
c.1017C>A (p.Gly339=)
5g.151822758C>ACA361849802GLRA1c.1265G>T (p.Gly422Val)
c.1289G>T (p.Gly430Val)
c.*1023G>T (n.*1023G>T)
c.1016G>T (p.Gly339Val)
5g.151822758C>GCA361849800GLRA1c.1265G>C (p.Gly422Ala)
c.1289G>C (p.Gly430Ala)
c.*1023G>C (n.*1023G>C)
c.1016G>C (p.Gly339Ala)
5g.151822758C>TCA361849801GLRA1c.1265G>A (p.Gly422Asp)
c.1289G>A (p.Gly430Asp)
c.*1023G>A (n.*1023G>A)
c.1016G>A (p.Gly339Asp)
 ClinVar dbSNP gnomAD v4
5g.151822759C>ACA361849803GLRA1c.1264G>T (p.Gly422Cys)
c.1288G>T (p.Gly430Cys)
c.*1022G>T (n.*1022G>T)
c.1015G>T (p.Gly339Cys)
5g.151822759C>GCA361849804GLRA1c.1264G>C (p.Gly422Arg)
c.1288G>C (p.Gly430Arg)
c.*1022G>C (n.*1022G>C)
c.1015G>C (p.Gly339Arg)
5g.151822759C>TCA361849805GLRA1c.1264G>A (p.Gly422Ser)
c.1288G>A (p.Gly430Ser)
c.*1022G>A (n.*1022G>A)
c.1015G>A (p.Gly339Ser)
5g.151822760A>CCA361849806GLRA1c.1263T>G (p.Ile421Met)
c.1287T>G (p.Ile429Met)
c.*1021T>G (n.*1021T>G)
c.1014T>G (p.Ile338Met)
5g.151822760A>GCA447226553GLRA1c.1263T>C (p.Ile421=)
c.1287T>C (p.Ile429=)
c.*1021T>C (n.*1021T>C)
c.1014T>C (p.Ile338=)
5g.151822760A>TCA447226552GLRA1c.1263T>A (p.Ile421=)
c.1287T>A (p.Ile429=)
c.*1021T>A (n.*1021T>A)
c.1014T>A (p.Ile338=)
5g.151822761A=CA1591565214GLRA1c.1262T= (p.Ile421=)
c.1286T= (p.Ile429=)
c.*1020T= (n.*1020T=)
c.1013T= (p.Ile338=)
5g.151822761A>CCA361849807GLRA1c.1262T>G (p.Ile421Ser)
c.1286T>G (p.Ile429Ser)
c.*1020T>G (n.*1020T>G)
c.1013T>G (p.Ile338Ser)
5g.151822761A>GCA3523467GLRA1c.1262T>C (p.Ile421Thr)
c.1286T>C (p.Ile429Thr)
c.*1020T>C (n.*1020T>C)
c.1013T>C (p.Ile338Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.151822761A>TCA361849808GLRA1c.1262T>A (p.Ile421Asn)
c.1286T>A (p.Ile429Asn)
c.*1020T>A (n.*1020T>A)
c.1013T>A (p.Ile338Asn)
 dbSNP gnomAD v4
5g.151822762T>ACA361849809GLRA1c.1261A>T (p.Ile421Phe)
c.1285A>T (p.Ile429Phe)
c.*1019A>T (n.*1019A>T)
c.1012A>T (p.Ile338Phe)
5g.151822762T>CCA3523468GLRA1c.1261A>G (p.Ile421Val)
c.1285A>G (p.Ile429Val)
c.*1019A>G (n.*1019A>G)
c.1012A>G (p.Ile338Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.151822762T>GCA361849810GLRA1c.1261A>C (p.Ile421Leu)
c.1285A>C (p.Ile429Leu)
c.*1019A>C (n.*1019A>C)
c.1012A>C (p.Ile338Leu)
5g.151822762T=CA1591565215GLRA1c.1261A= (p.Ile421=)
c.1285A= (p.Ile429=)
c.*1019A= (n.*1019A=)
c.1012A= (p.Ile338=)
5g.151822763G>ACA447226554GLRA1c.1260C>T (p.Arg420=)
c.1284C>T (p.Arg428=)
c.*1018C>T (n.*1018C>T)
c.1011C>T (p.Arg337=)
5g.151822763G>CCA447226555GLRA1c.1260C>G (p.Arg420=)
c.1284C>G (p.Arg428=)
c.*1018C>G (n.*1018C>G)
c.1011C>G (p.Arg337=)
5g.151822763G>TCA447226556GLRA1c.1260C>A (p.Arg420=)
c.1284C>A (p.Arg428=)
c.*1018C>A (n.*1018C>A)
c.1011C>A (p.Arg337=)
5g.151822764C>ACA361849811GLRA1c.1259G>T (p.Arg420Leu)
c.1283G>T (p.Arg428Leu)
c.*1017G>T (n.*1017G>T)
c.1010G>T (p.Arg337Leu)
5g.151822764C=CA1591565216GLRA1c.1259G= (p.Arg420=)
c.1283G= (p.Arg428=)
c.*1017G= (n.*1017G=)
c.1010G= (p.Arg337=)
5g.151822764C>GCA361849812GLRA1c.1259G>C (p.Arg420Pro)
c.1283G>C (p.Arg428Pro)
c.*1017G>C (n.*1017G>C)
c.1010G>C (p.Arg337Pro)
5g.151822764C>TCA356537GLRA1c.1259G>A (p.Arg420His)
c.1283G>A (p.Arg428His)
c.*1017G>A (n.*1017G>A)
c.1010G>A (p.Arg337His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
5g.151822765G>ACA3523469GLRA1c.1258C>T (p.Arg420Cys)
c.1282C>T (p.Arg428Cys)
c.*1016C>T (n.*1016C>T)
c.1009C>T (p.Arg337Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.151822765G>CCA361849814GLRA1c.1258C>G (p.Arg420Gly)
c.1282C>G (p.Arg428Gly)
c.*1016C>G (n.*1016C>G)
c.1009C>G (p.Arg337Gly)
5g.151822765G=CA1591565217GLRA1c.1258C= (p.Arg420=)
c.1282C= (p.Arg428=)
c.*1016C= (n.*1016C=)
c.1009C= (p.Arg337=)
5g.151822765G>TCA361849813GLRA1c.1258C>A (p.Arg420Ser)
c.1282C>A (p.Arg428Ser)
c.*1016C>A (n.*1016C>A)
c.1009C>A (p.Arg337Ser)
 COSMIC
5g.151822766G>ACA447226557GLRA1c.1257C>T (p.Ser419=)
c.1281C>T (p.Ser427=)
c.*1015C>T (n.*1015C>T)
c.1008C>T (p.Ser336=)
5g.151822766G>CCA447226559GLRA1c.1257C>G (p.Ser419=)
c.1281C>G (p.Ser427=)
c.*1015C>G (n.*1015C>G)
c.1008C>G (p.Ser336=)
 dbSNP gnomAD v2 gnomAD v4
5g.151822766G=CA1591565218GLRA1c.1257C= (p.Ser419=)
c.1281C= (p.Ser427=)
c.*1015C= (n.*1015C=)
c.1008C= (p.Ser336=)
5g.151822766G>TCA447226558GLRA1c.1257C>A (p.Ser419=)
c.1281C>A (p.Ser427=)
c.*1015C>A (n.*1015C>A)
c.1008C>A (p.Ser336=)
 gnomAD v4
5g.151822767G>ACA361849815GLRA1c.1256C>T (p.Ser419Phe)
c.1280C>T (p.Ser427Phe)
c.*1014C>T (n.*1014C>T)
c.1007C>T (p.Ser336Phe)
 gnomAD v4
5g.151822767G>CCA361849816GLRA1c.1256C>G (p.Ser419Cys)
c.1280C>G (p.Ser427Cys)
c.*1014C>G (n.*1014C>G)
c.1007C>G (p.Ser336Cys)
5g.151822767G>TCA361849817GLRA1c.1256C>A (p.Ser419Tyr)
c.1280C>A (p.Ser427Tyr)
c.*1014C>A (n.*1014C>A)
c.1007C>A (p.Ser336Tyr)
5g.151822768A>CCA361849818GLRA1c.1255T>G (p.Ser419Ala)
c.1279T>G (p.Ser427Ala)
c.*1013T>G (n.*1013T>G)
c.1006T>G (p.Ser336Ala)
5g.151822768A>GCA361849819GLRA1c.1255T>C (p.Ser419Pro)
c.1279T>C (p.Ser427Pro)
c.*1013T>C (n.*1013T>C)
c.1006T>C (p.Ser336Pro)
 gnomAD v4
5g.151822768A>TCA361849820GLRA1c.1255T>A (p.Ser419Thr)
c.1279T>A (p.Ser427Thr)
c.*1013T>A (n.*1013T>A)
c.1006T>A (p.Ser336Thr)
 gnomAD v4
5g.151822769T>ACA447226561GLRA1c.1254A>T (p.Ile418=)
c.1278A>T (p.Ile426=)
c.*1012A>T (n.*1012A>T)
c.1005A>T (p.Ile335=)
5g.151822769T>CCA361849821GLRA1c.1254A>G (p.Ile418Met)
c.1278A>G (p.Ile426Met)
c.*1012A>G (n.*1012A>G)
c.1005A>G (p.Ile335Met)
5g.151822769T>GCA447226562GLRA1c.1254A>C (p.Ile418=)
c.1278A>C (p.Ile426=)
c.*1012A>C (n.*1012A>C)
c.1005A>C (p.Ile335=)
5g.151822770A=CA1591565219GLRA1c.1253T= (p.Ile418=)
c.1277T= (p.Ile426=)
c.*1011T= (n.*1011T=)
c.1004T= (p.Ile335=)
5g.151822770A>CCA361849822GLRA1c.1253T>G (p.Ile418Arg)
c.1277T>G (p.Ile426Arg)
c.*1011T>G (n.*1011T>G)
c.1004T>G (p.Ile335Arg)
5g.151822770A>GCA361849823GLRA1c.1253T>C (p.Ile418Thr)
c.1277T>C (p.Ile426Thr)
c.*1011T>C (n.*1011T>C)
c.1004T>C (p.Ile335Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.151822770A>TCA361849824GLRA1c.1253T>A (p.Ile418Lys)
c.1277T>A (p.Ile426Lys)
c.*1011T>A (n.*1011T>A)
c.1004T>A (p.Ile335Lys)
5g.151822771T>ACA361849825GLRA1c.1252A>T (p.Ile418Leu)
c.1276A>T (p.Ile426Leu)
c.*1010A>T (n.*1010A>T)
c.1003A>T (p.Ile335Leu)
5g.151822771T>CCA361849826GLRA1c.1252A>G (p.Ile418Val)
c.1276A>G (p.Ile426Val)
c.*1010A>G (n.*1010A>G)
c.1003A>G (p.Ile335Val)
5g.151822771T>GCA361849827GLRA1c.1252A>C (p.Ile418Leu)
c.1276A>C (p.Ile426Leu)
c.*1010A>C (n.*1010A>C)
c.1003A>C (p.Ile335Leu)
5g.151822772T>ACA361849828GLRA1c.1251A>T (p.Lys417Asn)
c.1275A>T (p.Lys425Asn)
c.*1009A>T (n.*1009A>T)
c.1002A>T (p.Lys334Asn)
5g.151822772T>CCA447226563GLRA1c.1251A>G (p.Lys417=)
c.1275A>G (p.Lys425=)
c.*1009A>G (n.*1009A>G)
c.1002A>G (p.Lys334=)
5g.151822772T>GCA361849829GLRA1c.1251A>C (p.Lys417Asn)
c.1275A>C (p.Lys425Asn)
c.*1009A>C (n.*1009A>C)
c.1002A>C (p.Lys334Asn)
 gnomAD v4
5g.151822773T>ACA361849830GLRA1c.1250A>T (p.Lys417Ile)
c.1274A>T (p.Lys425Ile)
c.*1008A>T (n.*1008A>T)
c.1001A>T (p.Lys334Ile)
5g.151822773T>CCA361849831GLRA1c.1250A>G (p.Lys417Arg)
c.1274A>G (p.Lys425Arg)
c.*1008A>G (n.*1008A>G)
c.1001A>G (p.Lys334Arg)
5g.151822773T>GCA361849832GLRA1c.1250A>C (p.Lys417Thr)
c.1274A>C (p.Lys425Thr)
c.*1008A>C (n.*1008A>C)
c.1001A>C (p.Lys334Thr)
5g.151822774T>ACA361849833GLRA1c.1249A>T (p.Lys417Ter)
c.1273A>T (p.Lys425Ter)
c.*1007A>T (n.*1007A>T)
c.1000A>T (p.Lys334Ter)
5g.151822774T>CCA361849834GLRA1c.1249A>G (p.Lys417Glu)
c.1273A>G (p.Lys425Glu)
c.*1007A>G (n.*1007A>G)
c.1000A>G (p.Lys334Glu)
 gnomAD v4
5g.151822774T>GCA361849835GLRA1c.1249A>C (p.Lys417Gln)
c.1273A>C (p.Lys425Gln)
c.*1007A>C (n.*1007A>C)
c.1000A>C (p.Lys334Gln)
5g.151822775G>ACA447226564GLRA1c.1248C>T (p.Asp416=)
c.1272C>T (p.Asp424=)
c.*1006C>T (n.*1006C>T)
c.999C>T (p.Asp333=)
5g.151822775G>CCA3523470GLRA1c.1248C>G (p.Asp416Glu)
c.1272C>G (p.Asp424Glu)
c.*1006C>G (n.*1006C>G)
c.999C>G (p.Asp333Glu)
 dbSNP ExAC gnomAD v2
5g.151822775G=CA1591565220GLRA1c.1248C= (p.Asp416=)
c.1272C= (p.Asp424=)
c.*1006C= (n.*1006C=)
c.999C= (p.Asp333=)
5g.151822775G>TCA361849836GLRA1c.1248C>A (p.Asp416Glu)
c.1272C>A (p.Asp424Glu)
c.*1006C>A (n.*1006C>A)
c.999C>A (p.Asp333Glu)
 COSMIC
5g.151822776T>ACA361849837GLRA1c.1247A>T (p.Asp416Val)
c.1271A>T (p.Asp424Val)
c.*1005A>T (n.*1005A>T)
c.998A>T (p.Asp333Val)
5g.151822776T>CCA361849838GLRA1c.1247A>G (p.Asp416Gly)
c.1271A>G (p.Asp424Gly)
c.*1005A>G (n.*1005A>G)
c.998A>G (p.Asp333Gly)
5g.151822776T>GCA361849839GLRA1c.1247A>C (p.Asp416Ala)
c.1271A>C (p.Asp424Ala)
c.*1005A>C (n.*1005A>C)
c.998A>C (p.Asp333Ala)
 gnomAD v4
5g.151822777C>ACA361849842GLRA1c.1246G>T (p.Asp416Tyr)
c.1270G>T (p.Asp424Tyr)
c.*1004G>T (n.*1004G>T)
c.997G>T (p.Asp333Tyr)
5g.151822777C=CA1591565221GLRA1c.1246G= (p.Asp416=)
c.1270G= (p.Asp424=)
c.*1004G= (n.*1004G=)
c.997G= (p.Asp333=)
5g.151822777C>GCA361849841GLRA1c.1246G>C (p.Asp416His)
c.1270G>C (p.Asp424His)
c.*1004G>C (n.*1004G>C)
c.997G>C (p.Asp333His)
5g.151822777C>TCA361849840GLRA1c.1246G>A (p.Asp416Asn)
c.1270G>A (p.Asp424Asn)
c.*1004G>A (n.*1004G>A)
c.997G>A (p.Asp333Asn)
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.151822778G>ACA3523472GLRA1c.1245C>T (p.Ile415=)
c.1269C>T (p.Ile423=)
c.*1003C>T (n.*1003C>T)
c.996C>T (p.Ile332=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.151822778G>CCA3523471GLRA1c.1245C>G (p.Ile415Met)
c.1269C>G (p.Ile423Met)
c.*1003C>G (n.*1003C>G)
c.996C>G (p.Ile332Met)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.151822778G=CA1591565222GLRA1c.1245C= (p.Ile415=)
c.1269C= (p.Ile423=)
c.*1003C= (n.*1003C=)
c.996C= (p.Ile332=)
5g.151822778G>TCA447226565GLRA1c.1245C>A (p.Ile415=)
c.1269C>A (p.Ile423=)
c.*1003C>A (n.*1003C>A)
c.996C>A (p.Ile332=)
 gnomAD v4
5g.151822779A>CCA361849843GLRA1c.1244T>G (p.Ile415Ser)
c.1268T>G (p.Ile423Ser)
c.*1002T>G (n.*1002T>G)
c.995T>G (p.Ile332Ser)
5g.151822779A>GCA361849844GLRA1c.1244T>C (p.Ile415Thr)
c.1268T>C (p.Ile423Thr)
c.*1002T>C (n.*1002T>C)
c.995T>C (p.Ile332Thr)
 gnomAD v4
5g.151822779A>TCA361849845GLRA1c.1244T>A (p.Ile415Asn)
c.1268T>A (p.Ile423Asn)
c.*1002T>A (n.*1002T>A)
c.995T>A (p.Ile332Asn)
5g.151822779_151822782delinsATCTCA1591565223GLRA1c.1241_1244delinsAGAT (p.Lys414=)
c.1265_1268delinsAGAT (p.Lys422=)
c.*999_*1002delinsAGAT (n.*999_*1002delinsAGAT)
c.992_995delinsAGAT (p.Lys331=)
5g.151822780T>ACA361849846GLRA1c.1243A>T (p.Ile415Phe)
c.1267A>T (p.Ile423Phe)
c.*1001A>T (n.*1001A>T)
c.994A>T (p.Ile332Phe)
5g.151822780T>CCA361849847GLRA1c.1243A>G (p.Ile415Val)
c.1267A>G (p.Ile423Val)
c.*1001A>G (n.*1001A>G)
c.994A>G (p.Ile332Val)
5g.151822780T>GCA361849848GLRA1c.1243A>C (p.Ile415Leu)
c.1267A>C (p.Ile423Leu)
c.*1001A>C (n.*1001A>C)
c.994A>C (p.Ile332Leu)
5g.151822784_151822786delCA3523473GLRA1c.1241_1243del (p.Lys414del)
c.1265_1267del (p.Lys422del)
c.*999_*1001del (n.*999_*1001del)
c.992_994del (p.Lys331del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.151822781C>ACA361849849GLRA1c.1242G>T (p.Lys414Asn)
c.1266G>T (p.Lys422Asn)
c.*1000G>T (n.*1000G>T)
c.993G>T (p.Lys331Asn)
5g.151822781C>GCA361849850GLRA1c.1242G>C (p.Lys414Asn)
c.1266G>C (p.Lys422Asn)
c.*1000G>C (n.*1000G>C)
c.993G>C (p.Lys331Asn)
5g.151822781C>TCA447226566GLRA1c.1242G>A (p.Lys414=)
c.1266G>A (p.Lys422=)
c.*1000G>A (n.*1000G>A)
c.993G>A (p.Lys331=)
5g.151822782T>ACA3523474GLRA1c.1241A>T (p.Lys414Met)
c.1265A>T (p.Lys422Met)
c.*999A>T (n.*999A>T)
c.992A>T (p.Lys331Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.151822782T>CCA361849851GLRA1c.1241A>G (p.Lys414Arg)
c.1265A>G (p.Lys422Arg)
c.*999A>G (n.*999A>G)
c.992A>G (p.Lys331Arg)
 gnomAD v4
5g.151822782T>GCA361849852GLRA1c.1241A>C (p.Lys414Thr)
c.1265A>C (p.Lys422Thr)
c.*999A>C (n.*999A>C)
c.992A>C (p.Lys331Thr)
5g.151822782T=CA1591565224GLRA1c.1241A= (p.Lys414=)
c.1265A= (p.Lys422=)
c.*999A= (n.*999A=)
c.992A= (p.Lys331=)
5g.151822783T>ACA361849854GLRA1c.1240A>T (p.Lys414Ter)
c.1264A>T (p.Lys422Ter)
c.*998A>T (n.*998A>T)
c.991A>T (p.Lys331Ter)
5g.151822783T>CCA361849853GLRA1c.1240A>G (p.Lys414Glu)
c.1264A>G (p.Lys422Glu)
c.*998A>G (n.*998A>G)
c.991A>G (p.Lys331Glu)
 gnomAD v4
5g.151822783T>GCA130006197GLRA1c.1240A>C (p.Lys414Gln)
c.1264A>C (p.Lys422Gln)
c.*998A>C (n.*998A>C)
c.991A>C (p.Lys331Gln)
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.151822783T=CA1591565225GLRA1c.1240A= (p.Lys414=)
c.1264A= (p.Lys422=)
c.*998A= (n.*998A=)
c.991A= (p.Lys331=)
5g.151822784C>ACA361849855GLRA1c.1239G>T (p.Lys413Asn)
c.1263G>T (p.Lys421Asn)
c.*997G>T (n.*997G>T)
c.990G>T (p.Lys330Asn)
5g.151822784C>GCA361849856GLRA1c.1239G>C (p.Lys413Asn)
c.1263G>C (p.Lys421Asn)
c.*997G>C (n.*997G>C)
c.990G>C (p.Lys330Asn)
 gnomAD v4
5g.151822784C>TCA447226567GLRA1c.1239G>A (p.Lys413=)
c.1263G>A (p.Lys421=)
c.*997G>A (n.*997G>A)
c.990G>A (p.Lys330=)
 ClinVar dbSNP gnomAD v4 COSMIC
5g.151822785T>ACA361849857GLRA1c.1238A>T (p.Lys413Met)
c.1262A>T (p.Lys421Met)
c.*996A>T (n.*996A>T)
c.989A>T (p.Lys330Met)
5g.151822785T>CCA361849858GLRA1c.1238A>G (p.Lys413Arg)
c.1262A>G (p.Lys421Arg)
c.*996A>G (n.*996A>G)
c.989A>G (p.Lys330Arg)
5g.151822785T>GCA361849859GLRA1c.1238A>C (p.Lys413Thr)
c.1262A>C (p.Lys421Thr)
c.*996A>C (n.*996A>C)
c.989A>C (p.Lys330Thr)
 dbSNP
5g.151822785T=CA1591565226GLRA1c.1238A= (p.Lys413=)
c.1262A= (p.Lys421=)
c.*996A= (n.*996A=)
c.989A= (p.Lys330=)
5g.151822786T>ACA361849860GLRA1c.1237A>T (p.Lys413Ter)
c.1261A>T (p.Lys421Ter)
c.*995A>T (n.*995A>T)
c.988A>T (p.Lys330Ter)
5g.151822786T>CCA361849861GLRA1c.1237A>G (p.Lys413Glu)
c.1261A>G (p.Lys421Glu)
c.*995A>G (n.*995A>G)
c.988A>G (p.Lys330Glu)
 ClinVar dbSNP
5g.151822786T>GCA361849862GLRA1c.1237A>C (p.Lys413Gln)
c.1261A>C (p.Lys421Gln)
c.*995A>C (n.*995A>C)
c.988A>C (p.Lys330Gln)
 gnomAD v4
5g.151822787G>ACA447226568GLRA1c.1236C>T (p.Ala412=)
c.1260C>T (p.Ala420=)
c.*994C>T (n.*994C>T)
c.987C>T (p.Ala329=)
5g.151822787G>CCA447226569GLRA1c.1236C>G (p.Ala412=)
c.1260C>G (p.Ala420=)
c.*994C>G (n.*994C>G)
c.987C>G (p.Ala329=)
5g.151822787G>TCA447226570GLRA1c.1236C>A (p.Ala412=)
c.1260C>A (p.Ala420=)
c.*994C>A (n.*994C>A)
c.987C>A (p.Ala329=)
5g.151822788G>ACA361849863GLRA1c.1235C>T (p.Ala412Val)
c.1259C>T (p.Ala420Val)
c.*993C>T (n.*993C>T)
c.986C>T (p.Ala329Val)
 gnomAD v4
5g.151822788G>CCA361849864GLRA1c.1235C>G (p.Ala412Gly)
c.1259C>G (p.Ala420Gly)
c.*993C>G (n.*993C>G)
c.986C>G (p.Ala329Gly)
5g.151822788G>TCA361849865GLRA1c.1235C>A (p.Ala412Asp)
c.1259C>A (p.Ala420Asp)
c.*993C>A (n.*993C>A)
c.986C>A (p.Ala329Asp)
5g.151822788_151822789delinsGCCA1591565227GLRA1c.1234_1235delinsGC (p.Ala412=)
c.1258_1259delinsGC (p.Ala420=)
c.*992_*993delinsGC (n.*992_*993delinsGC)
c.985_986delinsGC (p.Ala329=)
5g.151822789C>ACA361849867GLRA1c.1234G>T (p.Ala412Ser)
c.1258G>T (p.Ala420Ser)
c.*992G>T (n.*992G>T)
c.985G>T (p.Ala329Ser)
5g.151822789C=CA1591565228GLRA1c.1234G= (p.Ala412=)
c.1258G= (p.Ala420=)
c.*992G= (n.*992G=)
c.985G= (p.Ala329=)
5g.151822789C>GCA361849868GLRA1c.1234G>C (p.Ala412Pro)
c.1258G>C (p.Ala420Pro)
c.*992G>C (n.*992G>C)
c.985G>C (p.Ala329Pro)
5g.151822789C>TCA361849866GLRA1c.1234G>A (p.Ala412Thr)
c.1258G>A (p.Ala420Thr)
c.*992G>A (n.*992G>A)
c.985G>A (p.Ala329Thr)
 ClinVar dbSNP gnomAD v4
5g.151822791delCA3523475GLRA1c.1234del (p.Ala412ProfsTer?)
c.1258del (p.Ala420ProfsTer?)
c.*992del (n.*992del)
c.985del (p.Ala329ProfsTer?)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.151822790C>ACA361849869GLRA1c.1233G>T (p.Arg411Ser)
c.1257G>T (p.Arg419Ser)
c.*991G>T (n.*991G>T)
c.984G>T (p.Arg328Ser)
5g.151822790C>GCA361849870GLRA1c.1233G>C (p.Arg411Ser)
c.1257G>C (p.Arg419Ser)
c.*991G>C (n.*991G>C)
c.984G>C (p.Arg328Ser)
 gnomAD v4
5g.151822790C>TCA447226571GLRA1c.1233G>A (p.Arg411=)
c.1257G>A (p.Arg419=)
c.*991G>A (n.*991G>A)
c.984G>A (p.Arg328=)
 COSMIC
5g.151822791C>ACA361849871GLRA1c.1232G>T (p.Arg411Met)
c.1256G>T (p.Arg419Met)
c.*990G>T (n.*990G>T)
c.983G>T (p.Arg328Met)
5g.151822791C=CA1591565229GLRA1c.1232G= (p.Arg411=)
c.1256G= (p.Arg419=)
c.*990G= (n.*990G=)
c.983G= (p.Arg328=)
5g.151822791C>GCA361849872GLRA1c.1232G>C (p.Arg411Thr)
c.1256G>C (p.Arg419Thr)
c.*990G>C (n.*990G>C)
c.983G>C (p.Arg328Thr)
 dbSNP
5g.151822791C>TCA361849873GLRA1c.1232G>A (p.Arg411Lys)
c.1256G>A (p.Arg419Lys)
c.*990G>A (n.*990G>A)
c.983G>A (p.Arg328Lys)
 gnomAD v4
5g.151822792T>ACA361849874GLRA1c.1231A>T (p.Arg411Trp)
c.1255A>T (p.Arg419Trp)
c.*989A>T (n.*989A>T)
c.982A>T (p.Arg328Trp)
5g.151822792T>CCA361849875GLRA1c.1231A>G (p.Arg411Gly)
c.1255A>G (p.Arg419Gly)
c.*989A>G (n.*989A>G)
c.982A>G (p.Arg328Gly)
5g.151822792T>GCA447226572GLRA1c.1231A>C (p.Arg411=)
c.1255A>C (p.Arg419=)
c.*989A>C (n.*989A>C)
c.982A>C (p.Arg328=)
5g.151822793C>ACA361849876GLRA1c.1230G>T (p.Gln410His)
c.1254G>T (p.Gln418His)
c.*988G>T (n.*988G>T)
c.981G>T (p.Gln327His)
5g.151822793C>GCA361849877GLRA1c.1230G>C (p.Gln410His)
c.1254G>C (p.Gln418His)
c.*988G>C (n.*988G>C)
c.981G>C (p.Gln327His)
5g.151822793C>TCA447226573GLRA1c.1230G>A (p.Gln410=)
c.1254G>A (p.Gln418=)
c.*988G>A (n.*988G>A)
c.981G>A (p.Gln327=)
5g.151822793_151822794insGTCA2768928613GLRA1c.1229_1230insAC (p.Ala412GlyfsTer?)
c.1253_1254insAC (p.Ala420GlyfsTer?)
c.*987_*988insAC (n.*987_*988insAC)
c.980_981insAC (p.Ala329GlyfsTer?)
5g.151822794T>ACA361849878GLRA1c.1229A>T (p.Gln410Leu)
c.1253A>T (p.Gln418Leu)
c.*987A>T (n.*987A>T)
c.980A>T (p.Gln327Leu)
5g.151822794T>CCA361849879GLRA1c.1229A>G (p.Gln410Arg)
c.1253A>G (p.Gln418Arg)
c.*987A>G (n.*987A>G)
c.980A>G (p.Gln327Arg)
5g.151822794T>GCA3523476GLRA1c.1229A>C (p.Gln410Pro)
c.1253A>C (p.Gln418Pro)
c.*987A>C (n.*987A>C)
c.980A>C (p.Gln327Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.151822794T=CA1591565230GLRA1c.1229A= (p.Gln410=)
c.1253A= (p.Gln418=)
c.*987A= (n.*987A=)
c.980A= (p.Gln327=)
5g.151822795G>ACA361849881GLRA1c.1228C>T (p.Gln410Ter)
c.1252C>T (p.Gln418Ter)
c.*986C>T (n.*986C>T)
c.979C>T (p.Gln327Ter)
5g.151822795G>CCA361849882GLRA1c.1228C>G (p.Gln410Glu)
c.1252C>G (p.Gln418Glu)
c.*986C>G (n.*986C>G)
c.979C>G (p.Gln327Glu)
5g.151822795G>TCA361849880GLRA1c.1228C>A (p.Gln410Lys)
c.1252C>A (p.Gln418Lys)
c.*986C>A (n.*986C>A)
c.979C>A (p.Gln327Lys)
5g.151822796G>ACA447226574GLRA1c.1227C>T (p.Ile409=)
c.1251C>T (p.Ile417=)
c.*985C>T (n.*985C>T)
c.978C>T (p.Ile326=)
5g.151822796G>CCA361849883GLRA1c.1227C>G (p.Ile409Met)
c.1251C>G (p.Ile417Met)
c.*985C>G (n.*985C>G)
c.978C>G (p.Ile326Met)
5g.151822796G>TCA447226575GLRA1c.1227C>A (p.Ile409=)
c.1251C>A (p.Ile417=)
c.*985C>A (n.*985C>A)
c.978C>A (p.Ile326=)
5g.151822797A>CCA361849884GLRA1c.1226T>G (p.Ile409Ser)
c.1250T>G (p.Ile417Ser)
c.*984T>G (n.*984T>G)
c.977T>G (p.Ile326Ser)
5g.151822797A>GCA361849885GLRA1c.1226T>C (p.Ile409Thr)
c.1250T>C (p.Ile417Thr)
c.*984T>C (n.*984T>C)
c.977T>C (p.Ile326Thr)
 gnomAD v4
5g.151822797A>TCA361849886GLRA1c.1226T>A (p.Ile409Asn)
c.1250T>A (p.Ile417Asn)
c.*984T>A (n.*984T>A)
c.977T>A (p.Ile326Asn)
 ClinVar gnomAD v4
5g.151822798T>ACA361849889GLRA1c.1225A>T (p.Ile409Phe)
c.1249A>T (p.Ile417Phe)
c.*983A>T (n.*983A>T)
c.976A>T (p.Ile326Phe)
5g.151822798T>CCA361849888GLRA1c.1225A>G (p.Ile409Val)
c.1249A>G (p.Ile417Val)
c.*983A>G (n.*983A>G)
c.976A>G (p.Ile326Val)
 COSMIC
5g.151822798T>GCA361849887GLRA1c.1225A>C (p.Ile409Leu)
c.1249A>C (p.Ile417Leu)
c.*983A>C (n.*983A>C)
c.976A>C (p.Ile326Leu)
5g.151822799G>ACA3523477GLRA1c.1224C>T (p.Phe408=)
c.1248C>T (p.Phe416=)
c.*982C>T (n.*982C>T)
c.975C>T (p.Phe325=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.151822799G>CCA361849890GLRA1c.1224C>G (p.Phe408Leu)
c.1248C>G (p.Phe416Leu)
c.*982C>G (n.*982C>G)
c.975C>G (p.Phe325Leu)
5g.151822799G=CA1591565231GLRA1c.1224C= (p.Phe408=)
c.1248C= (p.Phe416=)
c.*982C= (n.*982C=)
c.975C= (p.Phe325=)
5g.151822799G>TCA361849891GLRA1c.1224C>A (p.Phe408Leu)
c.1248C>A (p.Phe416Leu)
c.*982C>A (n.*982C>A)
c.975C>A (p.Phe325Leu)
5g.151822800A>CCA361849892GLRA1c.1223T>G (p.Phe408Cys)
c.1247T>G (p.Phe416Cys)
c.*981T>G (n.*981T>G)
c.974T>G (p.Phe325Cys)
5g.151822800A>GCA361849893GLRA1c.1223T>C (p.Phe408Ser)
c.1247T>C (p.Phe416Ser)
c.*981T>C (n.*981T>C)
c.974T>C (p.Phe325Ser)
 gnomAD v4
5g.151822800A>TCA361849894GLRA1c.1223T>A (p.Phe408Tyr)
c.1247T>A (p.Phe416Tyr)
c.*981T>A (n.*981T>A)
c.974T>A (p.Phe325Tyr)
5g.151822801delCA2768928623GLRA1c.1223del (p.Phe408SerfsTer?)
c.1247del (p.Phe416SerfsTer?)
c.*981del (n.*981del)
c.974del (p.Phe325SerfsTer?)
5g.151822801A=CA1591565232GLRA1c.1222T= (p.Phe408=)
c.1246T= (p.Phe416=)
c.*980T= (n.*980T=)
c.973T= (p.Phe325=)
5g.151822801A>CCA361849896GLRA1c.1222T>G (p.Phe408Val)
c.1246T>G (p.Phe416Val)
c.*980T>G (n.*980T>G)
c.973T>G (p.Phe325Val)
 gnomAD v4
5g.151822801A>GCA361849895GLRA1c.1222T>C (p.Phe408Leu)
c.1246T>C (p.Phe416Leu)
c.*980T>C (n.*980T>C)
c.973T>C (p.Phe325Leu)
5g.151822801A>TCA130006212GLRA1c.1222T>A (p.Phe408Ile)
c.1246T>A (p.Phe416Ile)
c.*980T>A (n.*980T>A)
c.973T>A (p.Phe325Ile)
 dbSNP gnomAD v3 gnomAD v4
5g.151822802G>ACA447226576GLRA1c.1221C>T (p.Leu407=)
c.1245C>T (p.Leu415=)
c.*979C>T (n.*979C>T)
c.972C>T (p.Leu324=)
5g.151822802G>CCA447226577GLRA1c.1221C>G (p.Leu407=)
c.1245C>G (p.Leu415=)
c.*979C>G (n.*979C>G)
c.972C>G (p.Leu324=)
5g.151822802G>TCA447226578GLRA1c.1221C>A (p.Leu407=)
c.1245C>A (p.Leu415=)
c.*979C>A (n.*979C>A)
c.972C>A (p.Leu324=)
5g.151822803A>CCA361849897GLRA1c.1220T>G (p.Leu407Arg)
c.1244T>G (p.Leu415Arg)
c.*978T>G (n.*978T>G)
c.971T>G (p.Leu324Arg)
5g.151822803A>GCA361849899GLRA1c.1220T>C (p.Leu407Pro)
c.1244T>C (p.Leu415Pro)
c.*978T>C (n.*978T>C)
c.971T>C (p.Leu324Pro)
 gnomAD v4
5g.151822803A>TCA361849898GLRA1c.1220T>A (p.Leu407His)
c.1244T>A (p.Leu415His)
c.*978T>A (n.*978T>A)
c.971T>A (p.Leu324His)
5g.151822804G>ACA361849900GLRA1c.1219C>T (p.Leu407Phe)
c.1243C>T (p.Leu415Phe)
c.*977C>T (n.*977C>T)
c.970C>T (p.Leu324Phe)
 dbSNP gnomAD v2 gnomAD v4
5g.151822804G>CCA361849902GLRA1c.1219C>G (p.Leu407Val)
c.1243C>G (p.Leu415Val)
c.*977C>G (n.*977C>G)
c.970C>G (p.Leu324Val)
5g.151822804G=CA1591565233GLRA1c.1219C= (p.Leu407=)
c.1243C= (p.Leu415=)
c.*977C= (n.*977C=)
c.970C= (p.Leu324=)
5g.151822804G>TCA361849901GLRA1c.1219C>A (p.Leu407Ile)
c.1243C>A (p.Leu415Ile)
c.*977C>A (n.*977C>A)
c.970C>A (p.Leu324Ile)
5g.151822805T>ACA361849903GLRA1c.1218A>T (p.Lys406Asn)
c.1242A>T (p.Lys414Asn)
c.*976A>T (n.*976A>T)
c.969A>T (p.Lys323Asn)
 gnomAD v4
5g.151822805T>CCA447226579GLRA1c.1218A>G (p.Lys406=)
c.1242A>G (p.Lys414=)
c.*976A>G (n.*976A>G)
c.969A>G (p.Lys323=)
5g.151822805T>GCA361849904GLRA1c.1218A>C (p.Lys406Asn)
c.1242A>C (p.Lys414Asn)
c.*976A>C (n.*976A>C)
c.969A>C (p.Lys323Asn)
 ClinVar gnomAD v4
5g.151822806T>ACA361849905GLRA1c.1217A>T (p.Lys406Ile)
c.1241A>T (p.Lys414Ile)
c.*975A>T (n.*975A>T)
c.968A>T (p.Lys323Ile)
5g.151822806T>CCA361849906GLRA1c.1217A>G (p.Lys406Arg)
c.1241A>G (p.Lys414Arg)
c.*975A>G (n.*975A>G)
c.968A>G (p.Lys323Arg)
5g.151822806T>GCA361849907GLRA1c.1217A>C (p.Lys406Thr)
c.1241A>C (p.Lys414Thr)
c.*975A>C (n.*975A>C)
c.968A>C (p.Lys323Thr)
 gnomAD v4
5g.151822807T>ACA361849908GLRA1c.1216A>T (p.Lys406Ter)
c.1240A>T (p.Lys414Ter)
c.*974A>T (n.*974A>T)
c.967A>T (p.Lys323Ter)
5g.151822807T>CCA361849909GLRA1c.1216A>G (p.Lys406Glu)
c.1240A>G (p.Lys414Glu)
c.*974A>G (n.*974A>G)
c.967A>G (p.Lys323Glu)
 dbSNP gnomAD v4
5g.151822807T>GCA361849910GLRA1c.1216A>C (p.Lys406Gln)
c.1240A>C (p.Lys414Gln)
c.*974A>C (n.*974A>C)
c.967A>C (p.Lys323Gln)
5g.151822807T=CA1591565234GLRA1c.1216A= (p.Lys406=)
c.1240A= (p.Lys414=)
c.*974A= (n.*974A=)
c.967A= (p.Lys323=)
5g.151822808T>ACA3523478GLRA1c.1215A>T (p.Arg405=)
c.1239A>T (p.Arg413=)
c.*973A>T (n.*973A>T)
c.966A>T (p.Arg322=)
 dbSNP ExAC gnomAD v2
5g.151822808T>CCA447226580GLRA1c.1215A>G (p.Arg405=)
c.1239A>G (p.Arg413=)
c.*973A>G (n.*973A>G)
c.966A>G (p.Arg322=)
5g.151822808T>GCA447226581GLRA1c.1215A>C (p.Arg405=)
c.1239A>C (p.Arg413=)
c.*973A>C (n.*973A>C)
c.966A>C (p.Arg322=)
5g.151822808T=CA1591565235GLRA1c.1215A= (p.Arg405=)
c.1239A= (p.Arg413=)
c.*973A= (n.*973A=)
c.966A= (p.Arg322=)
5g.151822809C>ACA3523480GLRA1c.1214G>T (p.Arg405Leu)
c.1238G>T (p.Arg413Leu)
c.*972G>T (n.*972G>T)
c.965G>T (p.Arg322Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.151822809C=CA1591565236GLRA1c.1214G= (p.Arg405=)
c.1238G= (p.Arg413=)
c.*972G= (n.*972G=)
c.965G= (p.Arg322=)
5g.151822809C>GCA361849911GLRA1c.1214G>C (p.Arg405Pro)
c.1238G>C (p.Arg413Pro)
c.*972G>C (n.*972G>C)
c.965G>C (p.Arg322Pro)
5g.151822809C>TCA3523479GLRA1c.1214G>A (p.Arg405Gln)
c.1238G>A (p.Arg413Gln)
c.*972G>A (n.*972G>A)
c.965G>A (p.Arg322Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.151822810G>ACA3523481GLRA1c.1213C>T (p.Arg405Ter)
c.1237C>T (p.Arg413Ter)
c.*971C>T (n.*971C>T)
c.964C>T (p.Arg322Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.151822810G>CCA130006241GLRA1c.1213C>G (p.Arg405Gly)
c.1237C>G (p.Arg413Gly)
c.*971C>G (n.*971C>G)
c.964C>G (p.Arg322Gly)
 dbSNP gnomAD v3 gnomAD v4
5g.151822810G=CA1591565237GLRA1c.1213C= (p.Arg405=)
c.1237C= (p.Arg413=)
c.*971C= (n.*971C=)
c.964C= (p.Arg322=)
5g.151822810G>TCA447226582GLRA1c.1213C>A (p.Arg405=)
c.1237C>A (p.Arg413=)
c.*971C>A (n.*971C>A)
c.964C>A (p.Arg322=)
5g.151822811C>ACA361849912GLRA1c.1212G>T (p.Met404Ile)
c.1236G>T (p.Met412Ile)
c.*970G>T (n.*970G>T)
c.963G>T (p.Met321Ile)
5g.151822811C=CA1591565238GLRA1c.1212G= (p.Met404=)
c.1236G= (p.Met412=)
c.*970G= (n.*970G=)
c.963G= (p.Met321=)
5g.151822811C>GCA361849913GLRA1c.1212G>C (p.Met404Ile)
c.1236G>C (p.Met412Ile)
c.*970G>C (n.*970G>C)
c.963G>C (p.Met321Ile)
5g.151822811C>TCA361849914GLRA1c.1212G>A (p.Met404Ile)
c.1236G>A (p.Met412Ile)
c.*970G>A (n.*970G>A)
c.963G>A (p.Met321Ile)
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.151822812A=CA1591565239GLRA1c.1211T= (p.Met404=)
c.1235T= (p.Met412=)
c.*969T= (n.*969T=)
c.962T= (p.Met321=)
5g.151822812A>CCA361849915GLRA1c.1211T>G (p.Met404Arg)
c.1235T>G (p.Met412Arg)
c.*969T>G (n.*969T>G)
c.962T>G (p.Met321Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.151822812A>GCA361849916GLRA1c.1211T>C (p.Met404Thr)
c.1235T>C (p.Met412Thr)
c.*969T>C (n.*969T>C)
c.962T>C (p.Met321Thr)
5g.151822812A>TCA361849917GLRA1c.1211T>A (p.Met404Lys)
c.1235T>A (p.Met412Lys)
c.*969T>A (n.*969T>A)
c.962T>A (p.Met321Lys)
5g.151822813T>ACA130006246GLRA1c.1210A>T (p.Met404Leu)
c.1234A>T (p.Met412Leu)
c.*968A>T (n.*968A>T)
c.961A>T (p.Met321Leu)
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.151822813T>CCA3523483GLRA1c.1210A>G (p.Met404Val)
c.1234A>G (p.Met412Val)
c.*968A>G (n.*968A>G)
c.961A>G (p.Met321Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.151822813T>GCA130006248GLRA1c.1210A>C (p.Met404Leu)
c.1234A>C (p.Met412Leu)
c.*968A>C (n.*968A>C)
c.961A>C (p.Met321Leu)
 dbSNP
5g.151822813T=CA1591565240GLRA1c.1210A= (p.Met404=)
c.1234A= (p.Met412=)
c.*968A= (n.*968A=)
c.961A= (p.Met321=)
5g.151822813_151822816delinsTCTCCA1591565241GLRA1c.1207_1210delinsGAGA (p.Glu403=)
c.1231_1234delinsGAGA (p.Glu411=)
c.*965_*968delinsGAGA (n.*965_*968delinsGAGA)
c.958_961delinsGAGA (p.Glu320=)

Number of alleles fetched