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 |
|---|---|---|---|---|---|
| 18 | g.57550734_57550736del | CA2695227662 | FECH | c.1252_1254del (p.Phe418del) c.1036_1038del (p.Phe346del) n.1358_1360del c.1270_1272del (p.Phe424del) c.*979_*981del (n.*979_*981del) c.1171_1173del (p.Phe391del) c.1153_1155del (p.Phe385del) c.1192_1194del (p.Phe398del) | |
| 18 | g.57550734A= | CA2306045956 | FECH | c.1250T= (p.Phe417=) c.1034T= (p.Phe345=) n.1356T= c.1268T= (p.Phe423=) c.*977T= (n.*977T=) c.1169T= (p.Phe390=) c.1151T= (p.Phe384=) c.1190T= (p.Phe397=) | |
| 18 | g.57550734A>C | CA402538860 | FECH | c.1250T>G (p.Phe417Cys) c.1034T>G (p.Phe345Cys) n.1356T>G c.1268T>G (p.Phe423Cys) c.*977T>G (n.*977T>G) c.1169T>G (p.Phe390Cys) c.1151T>G (p.Phe384Cys) c.1190T>G (p.Phe397Cys) | |
| 18 | g.57550734A>G | CA251508 | FECH | c.1250T>C (p.Phe417Ser) c.1034T>C (p.Phe345Ser) n.1356T>C c.1268T>C (p.Phe423Ser) c.*977T>C (n.*977T>C) c.1169T>C (p.Phe390Ser) c.1151T>C (p.Phe384Ser) c.1190T>C (p.Phe397Ser) | ClinVar dbSNP |
| 18 | g.57550734A>T | CA402538859 | FECH | c.1250T>A (p.Phe417Tyr) c.1034T>A (p.Phe345Tyr) n.1356T>A c.1268T>A (p.Phe423Tyr) c.*977T>A (n.*977T>A) c.1169T>A (p.Phe390Tyr) c.1151T>A (p.Phe384Tyr) c.1190T>A (p.Phe397Tyr) | |
| 18 | g.57550735A>C | CA402538861 | FECH | c.1249T>G (p.Phe417Val) c.1033T>G (p.Phe345Val) n.1355T>G c.1267T>G (p.Phe423Val) c.*976T>G (n.*976T>G) c.1168T>G (p.Phe390Val) c.1150T>G (p.Phe384Val) c.1189T>G (p.Phe397Val) | |
| 18 | g.57550735A>G | CA402538862 | FECH | c.1249T>C (p.Phe417Leu) c.1033T>C (p.Phe345Leu) n.1355T>C c.1267T>C (p.Phe423Leu) c.*976T>C (n.*976T>C) c.1168T>C (p.Phe390Leu) c.1150T>C (p.Phe384Leu) c.1189T>C (p.Phe397Leu) | |
| 18 | g.57550735A>T | CA402538863 | FECH | c.1249T>A (p.Phe417Ile) c.1033T>A (p.Phe345Ile) n.1355T>A c.1267T>A (p.Phe423Ile) c.*976T>A (n.*976T>A) c.1168T>A (p.Phe390Ile) c.1150T>A (p.Phe384Ile) c.1189T>A (p.Phe397Ile) | |
| 18 | g.57550736G>A | CA504011545 | FECH | c.1248C>T (p.Ser416=) c.1032C>T (p.Ser344=) n.1354C>T c.1266C>T (p.Ser422=) c.*975C>T (n.*975C>T) c.1167C>T (p.Ser389=) c.1149C>T (p.Ser383=) c.1188C>T (p.Ser396=) | gnomAD v4 |
| 18 | g.57550736G>C | CA504011546 | FECH | c.1248C>G (p.Ser416=) c.1032C>G (p.Ser344=) n.1354C>G c.1266C>G (p.Ser422=) c.*975C>G (n.*975C>G) c.1167C>G (p.Ser389=) c.1149C>G (p.Ser383=) c.1188C>G (p.Ser396=) | |
| 18 | g.57550736G>T | CA504011547 | FECH | c.1248C>A (p.Ser416=) c.1032C>A (p.Ser344=) n.1354C>A c.1266C>A (p.Ser422=) c.*975C>A (n.*975C>A) c.1167C>A (p.Ser389=) c.1149C>A (p.Ser383=) c.1188C>A (p.Ser396=) | |
| 18 | g.57550737G>A | CA402538864 | FECH | c.1247C>T (p.Ser416Phe) c.1031C>T (p.Ser344Phe) n.1353C>T c.1265C>T (p.Ser422Phe) c.*974C>T (n.*974C>T) c.1166C>T (p.Ser389Phe) c.1148C>T (p.Ser383Phe) c.1187C>T (p.Ser396Phe) | gnomAD v4 |
| 18 | g.57550737G>C | CA402538865 | FECH | c.1247C>G (p.Ser416Cys) c.1031C>G (p.Ser344Cys) n.1353C>G c.1265C>G (p.Ser422Cys) c.*974C>G (n.*974C>G) c.1166C>G (p.Ser389Cys) c.1148C>G (p.Ser383Cys) c.1187C>G (p.Ser396Cys) | |
| 18 | g.57550737G>T | CA402538866 | FECH | c.1247C>A (p.Ser416Tyr) c.1031C>A (p.Ser344Tyr) n.1353C>A c.1265C>A (p.Ser422Tyr) c.*974C>A (n.*974C>A) c.1166C>A (p.Ser389Tyr) c.1148C>A (p.Ser383Tyr) c.1187C>A (p.Ser396Tyr) | |
| 18 | g.57550738A= | CA2306045957 | FECH | c.1246T= (p.Ser416=) c.1030T= (p.Ser344=) n.1352T= c.1264T= (p.Ser422=) c.*973T= (n.*973T=) c.1165T= (p.Ser389=) c.1147T= (p.Ser383=) c.1186T= (p.Ser396=) | |
| 18 | g.57550738A>C | CA402538867 | FECH | c.1246T>G (p.Ser416Ala) c.1030T>G (p.Ser344Ala) n.1352T>G c.1264T>G (p.Ser422Ala) c.*973T>G (n.*973T>G) c.1165T>G (p.Ser389Ala) c.1147T>G (p.Ser383Ala) c.1186T>G (p.Ser396Ala) | |
| 18 | g.57550738A>G | CA402538868 | FECH | c.1246T>C (p.Ser416Pro) c.1030T>C (p.Ser344Pro) n.1352T>C c.1264T>C (p.Ser422Pro) c.*973T>C (n.*973T>C) c.1165T>C (p.Ser389Pro) c.1147T>C (p.Ser383Pro) c.1186T>C (p.Ser396Pro) | |
| 18 | g.57550738A>T | CA402538869 | FECH | c.1246T>A (p.Ser416Thr) c.1030T>A (p.Ser344Thr) n.1352T>A c.1264T>A (p.Ser422Thr) c.*973T>A (n.*973T>A) c.1165T>A (p.Ser389Thr) c.1147T>A (p.Ser383Thr) c.1186T>A (p.Ser396Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.57550739T>A | CA402538870 | FECH | c.1245A>T (p.Lys415Asn) c.1029A>T (p.Lys343Asn) n.1351A>T c.1263A>T (p.Lys421Asn) c.*972A>T (n.*972A>T) c.1164A>T (p.Lys388Asn) c.1146A>T (p.Lys382Asn) c.1185A>T (p.Lys395Asn) | |
| 18 | g.57550739T>C | CA504011548 | FECH | c.1245A>G (p.Lys415=) c.1029A>G (p.Lys343=) n.1351A>G c.1263A>G (p.Lys421=) c.*972A>G (n.*972A>G) c.1164A>G (p.Lys388=) c.1146A>G (p.Lys382=) c.1185A>G (p.Lys395=) | |
| 18 | g.57550739T>G | CA402538871 | FECH | c.1245A>C (p.Lys415Asn) c.1029A>C (p.Lys343Asn) n.1351A>C c.1263A>C (p.Lys421Asn) c.*972A>C (n.*972A>C) c.1164A>C (p.Lys388Asn) c.1146A>C (p.Lys382Asn) c.1185A>C (p.Lys395Asn) | |
| 18 | g.57550741del | CA2641939621 | FECH | c.1245del (p.Lys415AsnfsTer19) c.1029del (p.Lys343AsnfsTer19) n.1351del c.1263del (p.Lys421AsnfsTer19) c.*972del (n.*972del) c.1164del (p.Lys388AsnfsTer19) c.1146del (p.Lys382AsnfsTer19) c.1185del (p.Lys395AsnfsTer19) | gnomAD v4 |
| 18 | g.57550740T>A | CA402538873 | FECH | c.1244A>T (p.Lys415Ile) c.1028A>T (p.Lys343Ile) n.1350A>T c.1262A>T (p.Lys421Ile) c.*971A>T (n.*971A>T) c.1163A>T (p.Lys388Ile) c.1145A>T (p.Lys382Ile) c.1184A>T (p.Lys395Ile) | |
| 18 | g.57550740T>C | CA402538874 | FECH | c.1244A>G (p.Lys415Arg) c.1028A>G (p.Lys343Arg) n.1350A>G c.1262A>G (p.Lys421Arg) c.*971A>G (n.*971A>G) c.1163A>G (p.Lys388Arg) c.1145A>G (p.Lys382Arg) c.1184A>G (p.Lys395Arg) | |
| 18 | g.57550740T>G | CA402538872 | FECH | c.1244A>C (p.Lys415Thr) c.1028A>C (p.Lys343Thr) n.1350A>C c.1262A>C (p.Lys421Thr) c.*971A>C (n.*971A>C) c.1163A>C (p.Lys388Thr) c.1145A>C (p.Lys382Thr) c.1184A>C (p.Lys395Thr) | |
| 18 | g.57550741T>A | CA402538875 | FECH | c.1243A>T (p.Lys415Ter) c.1027A>T (p.Lys343Ter) n.1349A>T c.1261A>T (p.Lys421Ter) c.*970A>T (n.*970A>T) c.1162A>T (p.Lys388Ter) c.1144A>T (p.Lys382Ter) c.1183A>T (p.Lys395Ter) | |
| 18 | g.57550741T>C | CA402538876 | FECH | c.1243A>G (p.Lys415Glu) c.1027A>G (p.Lys343Glu) n.1349A>G c.1261A>G (p.Lys421Glu) c.*970A>G (n.*970A>G) c.1162A>G (p.Lys388Glu) c.1144A>G (p.Lys382Glu) c.1183A>G (p.Lys395Glu) | |
| 18 | g.57550741T>G | CA402538877 | FECH | c.1243A>C (p.Lys415Gln) c.1027A>C (p.Lys343Gln) n.1349A>C c.1261A>C (p.Lys421Gln) c.*970A>C (n.*970A>C) c.1162A>C (p.Lys388Gln) c.1144A>C (p.Lys382Gln) c.1183A>C (p.Lys395Gln) | |
| 18 | g.57550742A>C | CA504011551 | FECH | c.1242T>G (p.Thr414=) c.1026T>G (p.Thr342=) n.1348T>G c.1260T>G (p.Thr420=) c.*969T>G (n.*969T>G) c.1161T>G (p.Thr387=) c.1143T>G (p.Thr381=) c.1182T>G (p.Thr394=) | |
| 18 | g.57550742A>G | CA504011550 | FECH | c.1242T>C (p.Thr414=) c.1026T>C (p.Thr342=) n.1348T>C c.1260T>C (p.Thr420=) c.*969T>C (n.*969T>C) c.1161T>C (p.Thr387=) c.1143T>C (p.Thr381=) c.1182T>C (p.Thr394=) | |
| 18 | g.57550742A>T | CA504011549 | FECH | c.1242T>A (p.Thr414=) c.1026T>A (p.Thr342=) n.1348T>A c.1260T>A (p.Thr420=) c.*969T>A (n.*969T>A) c.1161T>A (p.Thr387=) c.1143T>A (p.Thr381=) c.1182T>A (p.Thr394=) | |
| 18 | g.57550743G>A | CA8972950 | FECH | c.1241C>T (p.Thr414Ile) c.1025C>T (p.Thr342Ile) n.1347C>T c.1259C>T (p.Thr420Ile) c.*968C>T (n.*968C>T) c.1160C>T (p.Thr387Ile) c.1142C>T (p.Thr381Ile) c.1181C>T (p.Thr394Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.57550743G>C | CA402538878 | FECH | c.1241C>G (p.Thr414Ser) c.1025C>G (p.Thr342Ser) n.1347C>G c.1259C>G (p.Thr420Ser) c.*968C>G (n.*968C>G) c.1160C>G (p.Thr387Ser) c.1142C>G (p.Thr381Ser) c.1181C>G (p.Thr394Ser) | |
| 18 | g.57550743G= | CA2306045958 | FECH | c.1241C= (p.Thr414=) c.1025C= (p.Thr342=) n.1347C= c.1259C= (p.Thr420=) c.*968C= (n.*968C=) c.1160C= (p.Thr387=) c.1142C= (p.Thr381=) c.1181C= (p.Thr394=) | |
| 18 | g.57550743G>T | CA402538879 | FECH | c.1241C>A (p.Thr414Asn) c.1025C>A (p.Thr342Asn) n.1347C>A c.1259C>A (p.Thr420Asn) c.*968C>A (n.*968C>A) c.1160C>A (p.Thr387Asn) c.1142C>A (p.Thr381Asn) c.1181C>A (p.Thr394Asn) | |
| 18 | g.57550744T>A | CA402538882 | FECH | c.1240A>T (p.Thr414Ser) c.1024A>T (p.Thr342Ser) n.1346A>T c.1258A>T (p.Thr420Ser) c.*967A>T (n.*967A>T) c.1159A>T (p.Thr387Ser) c.1141A>T (p.Thr381Ser) c.1180A>T (p.Thr394Ser) | |
| 18 | g.57550744T>C | CA402538880 | FECH | c.1240A>G (p.Thr414Ala) c.1024A>G (p.Thr342Ala) n.1346A>G c.1258A>G (p.Thr420Ala) c.*967A>G (n.*967A>G) c.1159A>G (p.Thr387Ala) c.1141A>G (p.Thr381Ala) c.1180A>G (p.Thr394Ala) | gnomAD v4 |
| 18 | g.57550744T>G | CA402538881 | FECH | c.1240A>C (p.Thr414Pro) c.1024A>C (p.Thr342Pro) n.1346A>C c.1258A>C (p.Thr420Pro) c.*967A>C (n.*967A>C) c.1159A>C (p.Thr387Pro) c.1141A>C (p.Thr381Pro) c.1180A>C (p.Thr394Pro) | |
| 18 | g.57550745C>A | CA402538883 | FECH | c.1239G>T (p.Glu413Asp) c.1023G>T (p.Glu341Asp) n.1345G>T c.1257G>T (p.Glu419Asp) c.*966G>T (n.*966G>T) c.1158G>T (p.Glu386Asp) c.1140G>T (p.Glu380Asp) c.1179G>T (p.Glu393Asp) | |
| 18 | g.57550745C= | CA2306045959 | FECH | c.1239G= (p.Glu413=) c.1023G= (p.Glu341=) n.1345G= c.1257G= (p.Glu419=) c.*966G= (n.*966G=) c.1158G= (p.Glu386=) c.1140G= (p.Glu380=) c.1179G= (p.Glu393=) | |
| 18 | g.57550745C>G | CA402538884 | FECH | c.1239G>C (p.Glu413Asp) c.1023G>C (p.Glu341Asp) n.1345G>C c.1257G>C (p.Glu419Asp) c.*966G>C (n.*966G>C) c.1158G>C (p.Glu386Asp) c.1140G>C (p.Glu380Asp) c.1179G>C (p.Glu393Asp) | |
| 18 | g.57550745C>T | CA504011552 | FECH | c.1239G>A (p.Glu413=) c.1023G>A (p.Glu341=) n.1345G>A c.1257G>A (p.Glu419=) c.*966G>A (n.*966G>A) c.1158G>A (p.Glu386=) c.1140G>A (p.Glu380=) c.1179G>A (p.Glu393=) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.57550746T>A | CA402538885 | FECH | c.1238A>T (p.Glu413Val) c.1022A>T (p.Glu341Val) n.1344A>T c.1256A>T (p.Glu419Val) c.*965A>T (n.*965A>T) c.1157A>T (p.Glu386Val) c.1139A>T (p.Glu380Val) c.1178A>T (p.Glu393Val) | |
| 18 | g.57550746T>C | CA402538886 | FECH | c.1238A>G (p.Glu413Gly) c.1022A>G (p.Glu341Gly) n.1344A>G c.1256A>G (p.Glu419Gly) c.*965A>G (n.*965A>G) c.1157A>G (p.Glu386Gly) c.1139A>G (p.Glu380Gly) c.1178A>G (p.Glu393Gly) | gnomAD v4 |
| 18 | g.57550746T>G | CA402538887 | FECH | c.1238A>C (p.Glu413Ala) c.1022A>C (p.Glu341Ala) n.1344A>C c.1256A>C (p.Glu419Ala) c.*965A>C (n.*965A>C) c.1157A>C (p.Glu386Ala) c.1139A>C (p.Glu380Ala) c.1178A>C (p.Glu393Ala) | |
| 18 | g.57550747C>A | CA402538888 | FECH | c.1237G>T (p.Glu413Ter) c.1021G>T (p.Glu341Ter) n.1343G>T c.1255G>T (p.Glu419Ter) c.*964G>T (n.*964G>T) c.1156G>T (p.Glu386Ter) c.1138G>T (p.Glu380Ter) c.1177G>T (p.Glu393Ter) | |
| 18 | g.57550747C= | CA2306045960 | FECH | c.1237G= (p.Glu413=) c.1021G= (p.Glu341=) n.1343G= c.1255G= (p.Glu419=) c.*964G= (n.*964G=) c.1156G= (p.Glu386=) c.1138G= (p.Glu380=) c.1177G= (p.Glu393=) | |
| 18 | g.57550747C>G | CA402538890 | FECH | c.1237G>C (p.Glu413Gln) c.1021G>C (p.Glu341Gln) n.1343G>C c.1255G>C (p.Glu419Gln) c.*964G>C (n.*964G>C) c.1156G>C (p.Glu386Gln) c.1138G>C (p.Glu380Gln) c.1177G>C (p.Glu393Gln) | |
| 18 | g.57550747C>T | CA402538889 | FECH | c.1237G>A (p.Glu413Lys) c.1021G>A (p.Glu341Lys) n.1343G>A c.1255G>A (p.Glu419Lys) c.*964G>A (n.*964G>A) c.1156G>A (p.Glu386Lys) c.1138G>A (p.Glu380Lys) c.1177G>A (p.Glu393Lys) | dbSNP |
| 18 | g.57550748C>A | CA402538891 | FECH | c.1236G>T (p.Arg412Ser) c.1020G>T (p.Arg340Ser) n.1342G>T c.1254G>T (p.Arg418Ser) c.*963G>T (n.*963G>T) c.1155G>T (p.Arg385Ser) c.1137G>T (p.Arg379Ser) c.1176G>T (p.Arg392Ser) |