Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.151822718C>A | CA361849706 | GLRA1 | c.1305G>T (p.Trp435Cys) c.1329G>T (p.Trp443Cys) c.*1063G>T (n.*1063G>T) c.1056G>T (p.Trp352Cys) | |
5 | g.151822718C>G | CA361849707 | GLRA1 | c.1305G>C (p.Trp435Cys) c.1329G>C (p.Trp443Cys) c.*1063G>C (n.*1063G>C) c.1056G>C (p.Trp352Cys) | |
5 | g.151822718C>T | CA361849708 | GLRA1 | c.1305G>A (p.Trp435Ter) c.1329G>A (p.Trp443Ter) c.*1063G>A (n.*1063G>A) c.1056G>A (p.Trp352Ter) | gnomAD v4 |
5 | g.151822719C>A | CA361849709 | GLRA1 | c.1304G>T (p.Trp435Leu) c.1328G>T (p.Trp443Leu) c.*1062G>T (n.*1062G>T) c.1055G>T (p.Trp352Leu) | |
5 | g.151822719C>G | CA361849711 | GLRA1 | c.1304G>C (p.Trp435Ser) c.1328G>C (p.Trp443Ser) c.*1062G>C (n.*1062G>C) c.1055G>C (p.Trp352Ser) | |
5 | g.151822719C>T | CA361849710 | GLRA1 | c.1304G>A (p.Trp435Ter) c.1328G>A (p.Trp443Ter) c.*1062G>A (n.*1062G>A) c.1055G>A (p.Trp352Ter) | |
5 | g.151822720A= | CA1591565202 | GLRA1 | c.1303T= (p.Trp435=) c.1327T= (p.Trp443=) c.*1061T= (n.*1061T=) c.1054T= (p.Trp352=) | |
5 | g.151822720A>C | CA361849712 | GLRA1 | c.1303T>G (p.Trp435Gly) c.1327T>G (p.Trp443Gly) c.*1061T>G (n.*1061T>G) c.1054T>G (p.Trp352Gly) | |
5 | g.151822720A>G | CA3523463 | GLRA1 | c.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 |
5 | g.151822720A>T | CA361849713 | GLRA1 | c.1303T>A (p.Trp435Arg) c.1327T>A (p.Trp443Arg) c.*1061T>A (n.*1061T>A) c.1054T>A (p.Trp352Arg) | |
5 | g.151822721G>A | CA447226531 | GLRA1 | c.1302C>T (p.Tyr434=) c.1326C>T (p.Tyr442=) c.*1060C>T (n.*1060C>T) c.1053C>T (p.Tyr351=) | |
5 | g.151822721G>C | CA361849714 | GLRA1 | c.1302C>G (p.Tyr434Ter) c.1326C>G (p.Tyr442Ter) c.*1060C>G (n.*1060C>G) c.1053C>G (p.Tyr351Ter) | |
5 | g.151822721G>T | CA361849715 | GLRA1 | c.1302C>A (p.Tyr434Ter) c.1326C>A (p.Tyr442Ter) c.*1060C>A (n.*1060C>A) c.1053C>A (p.Tyr351Ter) | gnomAD v4 |
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) |