WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.9840745C>A | CA394800382 | GRIN2A | c.1553G>T (p.Arg518Leu) c.1082G>T (p.Arg361Leu) n.1146G>T n.2037G>T c.1142G>T (p.Arg381Leu) n.1192G>T c.1394G>T (p.Arg465Leu) c.1295G>T (p.Arg432Leu) c.1709G>T (p.Arg570Leu) | ClinVar dbSNP |
| 16 | g.9840745C= | CA2206732659 | GRIN2A | c.1553G= (p.Arg518=) c.1082G= (p.Arg361=) n.1146G= n.2037G= c.1142G= (p.Arg381=) n.1192G= c.1394G= (p.Arg465=) c.1295G= (p.Arg432=) c.1709G= (p.Arg570=) | |
| 16 | g.9840745C>G | CA394800383 | GRIN2A | c.1553G>C (p.Arg518Pro) c.1082G>C (p.Arg361Pro) n.1146G>C n.2037G>C c.1142G>C (p.Arg381Pro) n.1192G>C c.1394G>C (p.Arg465Pro) c.1295G>C (p.Arg432Pro) c.1709G>C (p.Arg570Pro) | dbSNP |
| 16 | g.9840745C>T | CA145318 | GRIN2A | c.1553G>A (p.Arg518His) c.1082G>A (p.Arg361His) n.1146G>A n.2037G>A c.1142G>A (p.Arg381His) n.1192G>A c.1394G>A (p.Arg465His) c.1295G>A (p.Arg432His) c.1709G>A (p.Arg570His) | ClinVar dbSNP gnomAD v4 COSMIC |
| 16 | g.9840746G>A | CA315005 | GRIN2A | c.1552C>T (p.Arg518Cys) c.1081C>T (p.Arg361Cys) n.1145C>T n.2036C>T c.1141C>T (p.Arg381Cys) n.1191C>T c.1393C>T (p.Arg465Cys) c.1294C>T (p.Arg432Cys) c.1708C>T (p.Arg570Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.9840746G>C | CA394800384 | GRIN2A | c.1552C>G (p.Arg518Gly) c.1081C>G (p.Arg361Gly) n.1145C>G n.2036C>G c.1141C>G (p.Arg381Gly) n.1191C>G c.1393C>G (p.Arg465Gly) c.1294C>G (p.Arg432Gly) c.1708C>G (p.Arg570Gly) | dbSNP |
| 16 | g.9840746G= | CA2206732660 | GRIN2A | c.1552C= (p.Arg518=) c.1081C= (p.Arg361=) n.1145C= n.2036C= c.1141C= (p.Arg381=) n.1191C= c.1393C= (p.Arg465=) c.1294C= (p.Arg432=) c.1708C= (p.Arg570=) | |
| 16 | g.9840746G>T | CA394800385 | GRIN2A | c.1552C>A (p.Arg518Ser) c.1081C>A (p.Arg361Ser) n.1145C>A n.2036C>A c.1141C>A (p.Arg381Ser) n.1191C>A c.1393C>A (p.Arg465Ser) c.1294C>A (p.Arg432Ser) c.1708C>A (p.Arg570Ser) | |
| 16 | g.9840747T>A | CA394800386 | GRIN2A | c.1551A>T (p.Glu517Asp) c.1080A>T (p.Glu360Asp) n.1144A>T n.2035A>T c.1140A>T (p.Glu380Asp) n.1190A>T c.1392A>T (p.Glu464Asp) c.1293A>T (p.Glu431Asp) c.1707A>T (p.Glu569Asp) | dbSNP |
| 16 | g.9840747T>C | CA493686349 | GRIN2A | c.1551A>G (p.Glu517=) c.1080A>G (p.Glu360=) n.1144A>G n.2035A>G c.1140A>G (p.Glu380=) n.1190A>G c.1392A>G (p.Glu464=) c.1293A>G (p.Glu431=) c.1707A>G (p.Glu569=) | dbSNP |
| 16 | g.9840747T>G | CA394800387 | GRIN2A | c.1551A>C (p.Glu517Asp) c.1080A>C (p.Glu360Asp) n.1144A>C n.2035A>C c.1140A>C (p.Glu380Asp) n.1190A>C c.1392A>C (p.Glu464Asp) c.1293A>C (p.Glu431Asp) c.1707A>C (p.Glu569Asp) | ClinVar dbSNP |
| 16 | g.9840747T= | CA2206732661 | GRIN2A | c.1551A= (p.Glu517=) c.1080A= (p.Glu360=) n.1144A= n.2035A= c.1140A= (p.Glu380=) n.1190A= c.1392A= (p.Glu464=) c.1293A= (p.Glu431=) c.1707A= (p.Glu569=) | |
| 16 | g.9840748T>A | CA394800388 | GRIN2A | c.1550A>T (p.Glu517Val) c.1079A>T (p.Glu360Val) n.1143A>T n.2034A>T c.1139A>T (p.Glu380Val) n.1189A>T c.1391A>T (p.Glu464Val) c.1292A>T (p.Glu431Val) c.1706A>T (p.Glu569Val) | dbSNP |
| 16 | g.9840748T>C | CA394800390 | GRIN2A | c.1550A>G (p.Glu517Gly) c.1079A>G (p.Glu360Gly) n.1143A>G n.2034A>G c.1139A>G (p.Glu380Gly) n.1189A>G c.1391A>G (p.Glu464Gly) c.1292A>G (p.Glu431Gly) c.1706A>G (p.Glu569Gly) | |
| 16 | g.9840748T>G | CA394800389 | GRIN2A | c.1550A>C (p.Glu517Ala) c.1079A>C (p.Glu360Ala) n.1143A>C n.2034A>C c.1139A>C (p.Glu380Ala) n.1189A>C c.1391A>C (p.Glu464Ala) c.1292A>C (p.Glu431Ala) c.1706A>C (p.Glu569Ala) | |
| 16 | g.9840749C>A | CA394800391 | GRIN2A | c.1549G>T (p.Glu517Ter) c.1078G>T (p.Glu360Ter) n.1142G>T n.2033G>T c.1138G>T (p.Glu380Ter) n.1188G>T c.1390G>T (p.Glu464Ter) c.1291G>T (p.Glu431Ter) c.1705G>T (p.Glu569Ter) | ClinVar dbSNP |
| 16 | g.9840749C= | CA2206732662 | GRIN2A | c.1549G= (p.Glu517=) c.1078G= (p.Glu360=) n.1142G= n.2033G= c.1138G= (p.Glu380=) n.1188G= c.1390G= (p.Glu464=) c.1291G= (p.Glu431=) c.1705G= (p.Glu569=) | |
| 16 | g.9840749C>G | CA394800392 | GRIN2A | c.1549G>C (p.Glu517Gln) c.1078G>C (p.Glu360Gln) n.1142G>C n.2033G>C c.1138G>C (p.Glu380Gln) n.1188G>C c.1390G>C (p.Glu464Gln) c.1291G>C (p.Glu431Gln) c.1705G>C (p.Glu569Gln) | |
| 16 | g.9840749C>T | CA394800393 | GRIN2A | c.1549G>A (p.Glu517Lys) c.1078G>A (p.Glu360Lys) n.1142G>A n.2033G>A c.1138G>A (p.Glu380Lys) n.1188G>A c.1390G>A (p.Glu464Lys) c.1291G>A (p.Glu431Lys) c.1705G>A (p.Glu569Lys) | ClinVar dbSNP |
| 16 | g.9840750C>A | CA394800394 | GRIN2A | c.1548G>T (p.Glu516Asp) c.1077G>T (p.Glu359Asp) n.1141G>T n.2032G>T c.1137G>T (p.Glu379Asp) n.1187G>T c.1389G>T (p.Glu463Asp) c.1290G>T (p.Glu430Asp) c.1704G>T (p.Glu568Asp) | COSMIC |
| 16 | g.9840750C= | CA2206732663 | GRIN2A | c.1548G= (p.Glu516=) c.1077G= (p.Glu359=) n.1141G= n.2032G= c.1137G= (p.Glu379=) n.1187G= c.1389G= (p.Glu463=) c.1290G= (p.Glu430=) c.1704G= (p.Glu568=) | |
| 16 | g.9840750C>G | CA394800395 | GRIN2A | c.1548G>C (p.Glu516Asp) c.1077G>C (p.Glu359Asp) n.1141G>C n.2032G>C c.1137G>C (p.Glu379Asp) n.1187G>C c.1389G>C (p.Glu463Asp) c.1290G>C (p.Glu430Asp) c.1704G>C (p.Glu568Asp) | |
| 16 | g.9840750C>T | CA493686350 | GRIN2A | c.1548G>A (p.Glu516=) c.1077G>A (p.Glu359=) n.1141G>A n.2032G>A c.1137G>A (p.Glu379=) n.1187G>A c.1389G>A (p.Glu463=) c.1290G>A (p.Glu430=) c.1704G>A (p.Glu568=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.9840751T>A | CA394800398 | GRIN2A | c.1547A>T (p.Glu516Val) c.1076A>T (p.Glu359Val) n.1140A>T n.2031A>T c.1136A>T (p.Glu379Val) n.1186A>T c.1388A>T (p.Glu463Val) c.1289A>T (p.Glu430Val) c.1703A>T (p.Glu568Val) | dbSNP |
| 16 | g.9840751T>C | CA394800397 | GRIN2A | c.1547A>G (p.Glu516Gly) c.1076A>G (p.Glu359Gly) n.1140A>G n.2031A>G c.1136A>G (p.Glu379Gly) n.1186A>G c.1388A>G (p.Glu463Gly) c.1289A>G (p.Glu430Gly) c.1703A>G (p.Glu568Gly) | dbSNP |
| 16 | g.9840751T>G | CA394800396 | GRIN2A | c.1547A>C (p.Glu516Ala) c.1076A>C (p.Glu359Ala) n.1140A>C n.2031A>C c.1136A>C (p.Glu379Ala) n.1186A>C c.1388A>C (p.Glu463Ala) c.1289A>C (p.Glu430Ala) c.1703A>C (p.Glu568Ala) | |
| 16 | g.9840752C>A | CA394800399 | GRIN2A | c.1546G>T (p.Glu516Ter) c.1075G>T (p.Glu359Ter) n.1139G>T n.2030G>T c.1135G>T (p.Glu379Ter) n.1185G>T c.1387G>T (p.Glu463Ter) c.1288G>T (p.Glu430Ter) c.1702G>T (p.Glu568Ter) | dbSNP |
| 16 | g.9840752C= | CA2206732664 | GRIN2A | c.1546G= (p.Glu516=) c.1075G= (p.Glu359=) n.1139G= n.2030G= c.1135G= (p.Glu379=) n.1185G= c.1387G= (p.Glu463=) c.1288G= (p.Glu430=) c.1702G= (p.Glu568=) | |
| 16 | g.9840752C>G | CA394800400 | GRIN2A | c.1546G>C (p.Glu516Gln) c.1075G>C (p.Glu359Gln) n.1139G>C n.2030G>C c.1135G>C (p.Glu379Gln) n.1185G>C c.1387G>C (p.Glu463Gln) c.1288G>C (p.Glu430Gln) c.1702G>C (p.Glu568Gln) | dbSNP |
| 16 | g.9840752C>T | CA394800401 | GRIN2A | c.1546G>A (p.Glu516Lys) c.1075G>A (p.Glu359Lys) n.1139G>A n.2030G>A c.1135G>A (p.Glu379Lys) n.1185G>A c.1387G>A (p.Glu463Lys) c.1288G>A (p.Glu430Lys) c.1702G>A (p.Glu568Lys) | ClinVar dbSNP |
| 16 | g.9840753A= | CA2206732665 | GRIN2A | c.1545T= (p.Asn515=) c.1074T= (p.Asn358=) n.1138T= n.2029T= c.1134T= (p.Asn378=) n.1184T= c.1386T= (p.Asn462=) c.1287T= (p.Asn429=) c.1701T= (p.Asn567=) | |
| 16 | g.9840753A>C | CA394800402 | GRIN2A | c.1545T>G (p.Asn515Lys) c.1074T>G (p.Asn358Lys) n.1138T>G n.2029T>G c.1134T>G (p.Asn378Lys) n.1184T>G c.1386T>G (p.Asn462Lys) c.1287T>G (p.Asn429Lys) c.1701T>G (p.Asn567Lys) | |
| 16 | g.9840753A>G | CA7896679 | GRIN2A | c.1545T>C (p.Asn515=) c.1074T>C (p.Asn358=) n.1138T>C n.2029T>C c.1134T>C (p.Asn378=) n.1184T>C c.1386T>C (p.Asn462=) c.1287T>C (p.Asn429=) c.1701T>C (p.Asn567=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.9840753A>T | CA394800403 | GRIN2A | c.1545T>A (p.Asn515Lys) c.1074T>A (p.Asn358Lys) n.1138T>A n.2029T>A c.1134T>A (p.Asn378Lys) n.1184T>A c.1386T>A (p.Asn462Lys) c.1287T>A (p.Asn429Lys) c.1701T>A (p.Asn567Lys) | dbSNP |
| 16 | g.9840754T>A | CA394800404 | GRIN2A | c.1544A>T (p.Asn515Ile) c.1073A>T (p.Asn358Ile) n.1137A>T n.2028A>T c.1133A>T (p.Asn378Ile) n.1183A>T c.1385A>T (p.Asn462Ile) c.1286A>T (p.Asn429Ile) c.1700A>T (p.Asn567Ile) | |
| 16 | g.9840754T>C | CA394800406 | GRIN2A | c.1544A>G (p.Asn515Ser) c.1073A>G (p.Asn358Ser) n.1137A>G n.2028A>G c.1133A>G (p.Asn378Ser) n.1183A>G c.1385A>G (p.Asn462Ser) c.1286A>G (p.Asn429Ser) c.1700A>G (p.Asn567Ser) | ClinVar dbSNP |
| 16 | g.9840754T>G | CA394800405 | GRIN2A | c.1544A>C (p.Asn515Thr) c.1073A>C (p.Asn358Thr) n.1137A>C n.2028A>C c.1133A>C (p.Asn378Thr) n.1183A>C c.1385A>C (p.Asn462Thr) c.1286A>C (p.Asn429Thr) c.1700A>C (p.Asn567Thr) | |
| 16 | g.9840755T>A | CA394800407 | GRIN2A | c.1543A>T (p.Asn515Tyr) c.1072A>T (p.Asn358Tyr) n.1136A>T n.2027A>T c.1132A>T (p.Asn378Tyr) n.1182A>T c.1384A>T (p.Asn462Tyr) c.1285A>T (p.Asn429Tyr) c.1699A>T (p.Asn567Tyr) | dbSNP |
| 16 | g.9840755T>C | CA394800408 | GRIN2A | c.1543A>G (p.Asn515Asp) c.1072A>G (p.Asn358Asp) n.1136A>G n.2027A>G c.1132A>G (p.Asn378Asp) n.1182A>G c.1384A>G (p.Asn462Asp) c.1285A>G (p.Asn429Asp) c.1699A>G (p.Asn567Asp) | dbSNP |
| 16 | g.9840755T>G | CA394800409 | GRIN2A | c.1543A>C (p.Asn515His) c.1072A>C (p.Asn358His) n.1136A>C n.2027A>C c.1132A>C (p.Asn378His) n.1182A>C c.1384A>C (p.Asn462His) c.1285A>C (p.Asn429His) c.1699A>C (p.Asn567His) | |
| 16 | g.9840756G>A | CA7896680 | GRIN2A | c.1542C>T (p.Ile514=) c.1071C>T (p.Ile357=) n.1135C>T n.2026C>T c.1131C>T (p.Ile377=) n.1181C>T c.1383C>T (p.Ile461=) c.1284C>T (p.Ile428=) c.1698C>T (p.Ile566=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.9840756G>C | CA394800410 | GRIN2A | c.1542C>G (p.Ile514Met) c.1071C>G (p.Ile357Met) n.1135C>G n.2026C>G c.1131C>G (p.Ile377Met) n.1181C>G c.1383C>G (p.Ile461Met) c.1284C>G (p.Ile428Met) c.1698C>G (p.Ile566Met) | dbSNP |
| 16 | g.9840756G= | CA2206732666 | GRIN2A | c.1542C= (p.Ile514=) c.1071C= (p.Ile357=) n.1135C= n.2026C= c.1131C= (p.Ile377=) n.1181C= c.1383C= (p.Ile461=) c.1284C= (p.Ile428=) c.1698C= (p.Ile566=) | |
| 16 | g.9840756G>T | CA493686351 | GRIN2A | c.1542C>A (p.Ile514=) c.1071C>A (p.Ile357=) n.1135C>A n.2026C>A c.1131C>A (p.Ile377=) n.1181C>A c.1383C>A (p.Ile461=) c.1284C>A (p.Ile428=) c.1698C>A (p.Ile566=) | dbSNP |
| 16 | g.9840757A>C | CA394800411 | GRIN2A | c.1541T>G (p.Ile514Ser) c.1070T>G (p.Ile357Ser) n.1134T>G n.2025T>G c.1130T>G (p.Ile377Ser) n.1180T>G c.1382T>G (p.Ile461Ser) c.1283T>G (p.Ile428Ser) c.1697T>G (p.Ile566Ser) | |
| 16 | g.9840757A>G | CA394800412 | GRIN2A | c.1541T>C (p.Ile514Thr) c.1070T>C (p.Ile357Thr) n.1134T>C n.2025T>C c.1130T>C (p.Ile377Thr) n.1180T>C c.1382T>C (p.Ile461Thr) c.1283T>C (p.Ile428Thr) c.1697T>C (p.Ile566Thr) | dbSNP COSMIC |
| 16 | g.9840757A>T | CA394800413 | GRIN2A | c.1541T>A (p.Ile514Asn) c.1070T>A (p.Ile357Asn) n.1134T>A n.2025T>A c.1130T>A (p.Ile377Asn) n.1180T>A c.1382T>A (p.Ile461Asn) c.1283T>A (p.Ile428Asn) c.1697T>A (p.Ile566Asn) | dbSNP |
| 16 | g.9840758T>A | CA394800414 | GRIN2A | c.1540A>T (p.Ile514Phe) c.1069A>T (p.Ile357Phe) n.1133A>T n.2024A>T c.1129A>T (p.Ile377Phe) n.1179A>T c.1381A>T (p.Ile461Phe) c.1282A>T (p.Ile428Phe) c.1696A>T (p.Ile566Phe) | |
| 16 | g.9840758T>C | CA394800415 | GRIN2A | c.1540A>G (p.Ile514Val) c.1069A>G (p.Ile357Val) n.1133A>G n.2024A>G c.1129A>G (p.Ile377Val) n.1179A>G c.1381A>G (p.Ile461Val) c.1282A>G (p.Ile428Val) c.1696A>G (p.Ile566Val) | |
| 16 | g.9840758T>G | CA394800416 | GRIN2A | c.1540A>C (p.Ile514Leu) c.1069A>C (p.Ile357Leu) n.1133A>C n.2024A>C c.1129A>C (p.Ile377Leu) n.1179A>C c.1381A>C (p.Ile461Leu) c.1282A>C (p.Ile428Leu) c.1696A>C (p.Ile566Leu) |