Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.151822722T>A | CA361849716 | GLRA1 | c.1301A>T (p.Tyr434Phe) c.1325A>T (p.Tyr442Phe) c.*1059A>T (n.*1059A>T) c.1052A>T (p.Tyr351Phe) | |
5 | g.151822722T>C | CA361849717 | GLRA1 | c.1301A>G (p.Tyr434Cys) c.1325A>G (p.Tyr442Cys) c.*1059A>G (n.*1059A>G) c.1052A>G (p.Tyr351Cys) | gnomAD v4 |
5 | g.151822722T>G | CA361849718 | GLRA1 | c.1301A>C (p.Tyr434Ser) c.1325A>C (p.Tyr442Ser) c.*1059A>C (n.*1059A>C) c.1052A>C (p.Tyr351Ser) | |
5 | g.151822723A>C | CA361849719 | GLRA1 | c.1300T>G (p.Tyr434Asp) c.1324T>G (p.Tyr442Asp) c.*1058T>G (n.*1058T>G) c.1051T>G (p.Tyr351Asp) | gnomAD v4 |
5 | g.151822723A>G | CA361849720 | GLRA1 | c.1300T>C (p.Tyr434His) c.1324T>C (p.Tyr442His) c.*1058T>C (n.*1058T>C) c.1051T>C (p.Tyr351His) | |
5 | g.151822723A>T | CA361849721 | GLRA1 | c.1300T>A (p.Tyr434Asn) c.1324T>A (p.Tyr442Asn) c.*1058T>A (n.*1058T>A) c.1051T>A (p.Tyr351Asn) | |
5 | g.151822724G>A | CA447226532 | GLRA1 | c.1299C>T (p.Phe433=) c.1323C>T (p.Phe441=) c.*1057C>T (n.*1057C>T) c.1050C>T (p.Phe350=) | gnomAD v4 |
5 | g.151822724G>C | CA361849723 | GLRA1 | c.1299C>G (p.Phe433Leu) c.1323C>G (p.Phe441Leu) c.*1057C>G (n.*1057C>G) c.1050C>G (p.Phe350Leu) | |
5 | g.151822724G>T | CA361849722 | GLRA1 | c.1299C>A (p.Phe433Leu) c.1323C>A (p.Phe441Leu) c.*1057C>A (n.*1057C>A) c.1050C>A (p.Phe350Leu) | |
5 | g.151822725A>C | CA361849724 | GLRA1 | c.1298T>G (p.Phe433Cys) c.1322T>G (p.Phe441Cys) c.*1056T>G (n.*1056T>G) c.1049T>G (p.Phe350Cys) | |
5 | g.151822725A>G | CA361849726 | GLRA1 | c.1298T>C (p.Phe433Ser) c.1322T>C (p.Phe441Ser) c.*1056T>C (n.*1056T>C) c.1049T>C (p.Phe350Ser) | |
5 | g.151822725A>T | CA361849725 | GLRA1 | c.1298T>A (p.Phe433Tyr) c.1322T>A (p.Phe441Tyr) c.*1056T>A (n.*1056T>A) c.1049T>A (p.Phe350Tyr) | |
5 | g.151822726A>C | CA361849727 | GLRA1 | c.1297T>G (p.Phe433Val) c.1321T>G (p.Phe441Val) c.*1055T>G (n.*1055T>G) c.1048T>G (p.Phe350Val) | |
5 | g.151822726A>G | CA361849728 | GLRA1 | c.1297T>C (p.Phe433Leu) c.1321T>C (p.Phe441Leu) c.*1055T>C (n.*1055T>C) c.1048T>C (p.Phe350Leu) | |
5 | g.151822726A>T | CA361849729 | GLRA1 | c.1297T>A (p.Phe433Ile) c.1321T>A (p.Phe441Ile) c.*1055T>A (n.*1055T>A) c.1048T>A (p.Phe350Ile) | |
5 | g.151822727C>A | CA3523464 | GLRA1 | c.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 |
5 | g.151822727C= | CA1591565203 | GLRA1 | c.1296G= (p.Met432=) c.1320G= (p.Met440=) c.*1054G= (n.*1054G=) c.1047G= (p.Met349=) | |
5 | g.151822727C>G | CA361849730 | GLRA1 | c.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 |
5 | g.151822727C>T | CA361849731 | GLRA1 | c.1296G>A (p.Met432Ile) c.1320G>A (p.Met440Ile) c.*1054G>A (n.*1054G>A) c.1047G>A (p.Met349Ile) | gnomAD v4 |
5 | g.151822728A= | CA1591565204 | GLRA1 | c.1295T= (p.Met432=) c.1319T= (p.Met440=) c.*1053T= (n.*1053T=) c.1046T= (p.Met349=) | |
5 | g.151822728A>C | CA361849734 | GLRA1 | c.1295T>G (p.Met432Arg) c.1319T>G (p.Met440Arg) c.*1053T>G (n.*1053T>G) c.1046T>G (p.Met349Arg) | |
5 | g.151822728A>G | CA361849732 | GLRA1 | c.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 |
5 | g.151822728A>T | CA361849733 | GLRA1 | c.1295T>A (p.Met432Lys) c.1319T>A (p.Met440Lys) c.*1053T>A (n.*1053T>A) c.1046T>A (p.Met349Lys) | |
5 | g.151822729T>A | CA361849735 | GLRA1 | c.1294A>T (p.Met432Leu) c.1318A>T (p.Met440Leu) c.*1052A>T (n.*1052A>T) c.1045A>T (p.Met349Leu) | |
5 | g.151822729T>C | CA361849736 | GLRA1 | c.1294A>G (p.Met432Val) c.1318A>G (p.Met440Val) c.*1052A>G (n.*1052A>G) c.1045A>G (p.Met349Val) | |
5 | g.151822729T>G | CA361849737 | GLRA1 | c.1294A>C (p.Met432Leu) c.1318A>C (p.Met440Leu) c.*1052A>C (n.*1052A>C) c.1045A>C (p.Met349Leu) | |
5 | g.151822730G>A | CA447226533 | GLRA1 | c.1293C>T (p.Asn431=) c.1317C>T (p.Asn439=) c.*1051C>T (n.*1051C>T) c.1044C>T (p.Asn348=) | ClinVar dbSNP gnomAD v4 |
5 | g.151822730G>C | CA361849738 | GLRA1 | c.1293C>G (p.Asn431Lys) c.1317C>G (p.Asn439Lys) c.*1051C>G (n.*1051C>G) c.1044C>G (p.Asn348Lys) | |
5 | g.151822730G= | CA1591565205 | GLRA1 | c.1293C= (p.Asn431=) c.1317C= (p.Asn439=) c.*1051C= (n.*1051C=) c.1044C= (p.Asn348=) | |
5 | g.151822730G>T | CA361849739 | GLRA1 | c.1293C>A (p.Asn431Lys) c.1317C>A (p.Asn439Lys) c.*1051C>A (n.*1051C>A) c.1044C>A (p.Asn348Lys) | |
5 | g.151822731T>A | CA361849740 | GLRA1 | c.1292A>T (p.Asn431Ile) c.1316A>T (p.Asn439Ile) c.*1050A>T (n.*1050A>T) c.1043A>T (p.Asn348Ile) | gnomAD v4 |
5 | g.151822731T>C | CA3523465 | GLRA1 | c.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 |
5 | g.151822731T>G | CA361849741 | GLRA1 | c.1292A>C (p.Asn431Thr) c.1316A>C (p.Asn439Thr) c.*1050A>C (n.*1050A>C) c.1043A>C (p.Asn348Thr) | |
5 | g.151822731T= | CA1591565206 | GLRA1 | c.1292A= (p.Asn431=) c.1316A= (p.Asn439=) c.*1050A= (n.*1050A=) c.1043A= (p.Asn348=) | |
5 | g.151822732T>A | CA361849742 | GLRA1 | c.1291A>T (p.Asn431Tyr) c.1315A>T (p.Asn439Tyr) c.*1049A>T (n.*1049A>T) c.1042A>T (p.Asn348Tyr) | |
5 | g.151822732T>C | CA361849743 | GLRA1 | c.1291A>G (p.Asn431Asp) c.1315A>G (p.Asn439Asp) c.*1049A>G (n.*1049A>G) c.1042A>G (p.Asn348Asp) | |
5 | g.151822732T>G | CA361849744 | GLRA1 | c.1291A>C (p.Asn431His) c.1315A>C (p.Asn439His) c.*1049A>C (n.*1049A>C) c.1042A>C (p.Asn348His) | |
5 | g.151822733G>A | CA447226534 | GLRA1 | c.1290C>T (p.Phe430=) c.1314C>T (p.Phe438=) c.*1048C>T (n.*1048C>T) c.1041C>T (p.Phe347=) | |
5 | g.151822733G>C | CA361849745 | GLRA1 | c.1290C>G (p.Phe430Leu) c.1314C>G (p.Phe438Leu) c.*1048C>G (n.*1048C>G) c.1041C>G (p.Phe347Leu) | |
5 | g.151822733G>T | CA361849746 | GLRA1 | c.1290C>A (p.Phe430Leu) c.1314C>A (p.Phe438Leu) c.*1048C>A (n.*1048C>A) c.1041C>A (p.Phe347Leu) | |
5 | g.151822734A>C | CA361849747 | GLRA1 | c.1289T>G (p.Phe430Cys) c.1313T>G (p.Phe438Cys) c.*1047T>G (n.*1047T>G) c.1040T>G (p.Phe347Cys) | |
5 | g.151822734A>G | CA361849748 | GLRA1 | c.1289T>C (p.Phe430Ser) c.1313T>C (p.Phe438Ser) c.*1047T>C (n.*1047T>C) c.1040T>C (p.Phe347Ser) | |
5 | g.151822734A>T | CA361849749 | GLRA1 | c.1289T>A (p.Phe430Tyr) c.1313T>A (p.Phe438Tyr) c.*1047T>A (n.*1047T>A) c.1040T>A (p.Phe347Tyr) | |
5 | g.151822735A>C | CA361849750 | GLRA1 | c.1288T>G (p.Phe430Val) c.1312T>G (p.Phe438Val) c.*1046T>G (n.*1046T>G) c.1039T>G (p.Phe347Val) | gnomAD v4 |
5 | g.151822735A>G | CA361849751 | GLRA1 | c.1288T>C (p.Phe430Leu) c.1312T>C (p.Phe438Leu) c.*1046T>C (n.*1046T>C) c.1039T>C (p.Phe347Leu) | |
5 | g.151822735A>T | CA361849752 | GLRA1 | c.1288T>A (p.Phe430Ile) c.1312T>A (p.Phe438Ile) c.*1046T>A (n.*1046T>A) c.1039T>A (p.Phe347Ile) | |
5 | g.151822736A= | CA1591565207 | GLRA1 | c.1287T= (p.Ile429=) c.1311T= (p.Ile437=) c.*1045T= (n.*1045T=) c.1038T= (p.Ile346=) | |
5 | g.151822736A>C | CA361849753 | GLRA1 | c.1287T>G (p.Ile429Met) c.1311T>G (p.Ile437Met) c.*1045T>G (n.*1045T>G) c.1038T>G (p.Ile346Met) | |
5 | g.151822736A>G | CA447226535 | GLRA1 | c.1287T>C (p.Ile429=) c.1311T>C (p.Ile437=) c.*1045T>C (n.*1045T>C) c.1038T>C (p.Ile346=) | dbSNP |
5 | g.151822736A>T | CA447226536 | GLRA1 | c.1287T>A (p.Ile429=) c.1311T>A (p.Ile437=) c.*1045T>A (n.*1045T>A) c.1038T>A (p.Ile346=) |