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 |
|---|---|---|---|---|---|
| 8 | g.143728376_143728397dup | CA585729880 | FAM83H | c.1070_1091dup (p.Leu367AlafsTer?) c.1673_1694dup (p.Leu568AlafsTer?) c.250_271dup c.1127_1148dup (p.Leu386AlafsTer?) c.1088_1109dup (p.Leu373AlafsTer?) c.1391_1412dup (p.Leu474AlafsTer?) c.1238_1259dup (p.Leu423AlafsTer?) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.143728387_143728399del | CA2605497408 | FAM83H | c.1068_1080del (p.Glu357GlyfsTer?) c.1671_1683del (p.Glu558GlyfsTer?) c.248_260del c.1125_1137del (p.Glu376GlyfsTer?) c.1086_1098del (p.Glu363GlyfsTer?) c.1389_1401del (p.Glu464GlyfsTer?) c.1236_1248del (p.Glu413GlyfsTer?) | gnomAD v3 gnomAD v4 |
| 8 | g.143728388T>A | CA372468673 | FAM83H | c.1073A>T (p.Glu358Val) c.1676A>T (p.Glu559Val) c.253A>T c.1130A>T (p.Glu377Val) c.1091A>T (p.Glu364Val) c.1394A>T (p.Glu465Val) c.1241A>T (p.Glu414Val) | |
| 8 | g.143728388T>C | CA372468674 | FAM83H | c.1073A>G (p.Glu358Gly) c.1676A>G (p.Glu559Gly) c.253A>G c.1130A>G (p.Glu377Gly) c.1091A>G (p.Glu364Gly) c.1394A>G (p.Glu465Gly) c.1241A>G (p.Glu414Gly) | gnomAD v4 |
| 8 | g.143728388T>G | CA372468676 | FAM83H | c.1073A>C (p.Glu358Ala) c.1676A>C (p.Glu559Ala) c.253A>C c.1130A>C (p.Glu377Ala) c.1091A>C (p.Glu364Ala) c.1394A>C (p.Glu465Ala) c.1241A>C (p.Glu414Ala) | |
| 8 | g.143728389C>A | CA372468677 | FAM83H | c.1072G>T (p.Glu358Ter) c.1675G>T (p.Glu559Ter) c.252G>T c.1129G>T (p.Glu377Ter) c.1090G>T (p.Glu364Ter) c.1393G>T (p.Glu465Ter) c.1240G>T (p.Glu414Ter) | |
| 8 | g.143728389C= | CA1825940738 | FAM83H | c.1072G= (p.Glu358=) c.1675G= (p.Glu559=) c.252G= c.1129G= (p.Glu377=) c.1090G= (p.Glu364=) c.1393G= (p.Glu465=) c.1240G= (p.Glu414=) | |
| 8 | g.143728389C>G | CA372468678 | FAM83H | c.1072G>C (p.Glu358Gln) c.1675G>C (p.Glu559Gln) c.252G>C c.1129G>C (p.Glu377Gln) c.1090G>C (p.Glu364Gln) c.1393G>C (p.Glu465Gln) c.1240G>C (p.Glu414Gln) | |
| 8 | g.143728389C>T | CA372468679 | FAM83H | c.1072G>A (p.Glu358Lys) c.1675G>A (p.Glu559Lys) c.252G>A c.1129G>A (p.Glu377Lys) c.1090G>A (p.Glu364Lys) c.1393G>A (p.Glu465Lys) c.1240G>A (p.Glu414Lys) | gnomAD v4 |
| 8 | g.143728390C>A | CA372468681 | FAM83H | c.1071G>T (p.Glu357Asp) c.1674G>T (p.Glu558Asp) c.251G>T c.1128G>T (p.Glu376Asp) c.1089G>T (p.Glu363Asp) c.1392G>T (p.Glu464Asp) c.1239G>T (p.Glu413Asp) | gnomAD v4 |
| 8 | g.143728390C= | CA1825940739 | FAM83H | c.1071G= (p.Glu357=) c.1674G= (p.Glu558=) c.251G= c.1128G= (p.Glu376=) c.1089G= (p.Glu363=) c.1392G= (p.Glu464=) c.1239G= (p.Glu413=) | |
| 8 | g.143728390C>G | CA372468682 | FAM83H | c.1071G>C (p.Glu357Asp) c.1674G>C (p.Glu558Asp) c.251G>C c.1128G>C (p.Glu376Asp) c.1089G>C (p.Glu363Asp) c.1392G>C (p.Glu464Asp) c.1239G>C (p.Glu413Asp) | |
| 8 | g.143728390C>T | CA463519631 | FAM83H | c.1071G>A (p.Glu357=) c.1674G>A (p.Glu558=) c.251G>A c.1128G>A (p.Glu376=) c.1089G>A (p.Glu363=) c.1392G>A (p.Glu464=) c.1239G>A (p.Glu413=) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.143728390_143728401dup | CA585729881 | FAM83H | c.1060_1071dup (p.Glu357_Glu358insPheArgArgGlu) c.1663_1674dup (p.Glu558_Glu559insPheArgArgGlu) c.240_251dup c.1117_1128dup (p.Glu376_Glu377insPheArgArgGlu) c.1078_1089dup (p.Glu363_Glu364insPheArgArgGlu) c.1381_1392dup (p.Glu464_Glu465insPheArgArgGlu) c.1228_1239dup (p.Glu413_Glu414insPheArgArgGlu) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.143728391T>A | CA372468684 | FAM83H | c.1070A>T (p.Glu357Val) c.1673A>T (p.Glu558Val) c.250A>T c.1127A>T (p.Glu376Val) c.1088A>T (p.Glu363Val) c.1391A>T (p.Glu464Val) c.1238A>T (p.Glu413Val) | |
| 8 | g.143728391T>C | CA372468685 | FAM83H | c.1070A>G (p.Glu357Gly) c.1673A>G (p.Glu558Gly) c.250A>G c.1127A>G (p.Glu376Gly) c.1088A>G (p.Glu363Gly) c.1391A>G (p.Glu464Gly) c.1238A>G (p.Glu413Gly) | gnomAD v4 |
| 8 | g.143728391T>G | CA372468687 | FAM83H | c.1070A>C (p.Glu357Ala) c.1673A>C (p.Glu558Ala) c.250A>C c.1127A>C (p.Glu376Ala) c.1088A>C (p.Glu363Ala) c.1391A>C (p.Glu464Ala) c.1238A>C (p.Glu413Ala) | |
| 8 | g.143728392C>A | CA372468690 | FAM83H | c.1069G>T (p.Glu357Ter) c.1672G>T (p.Glu558Ter) c.249G>T c.1126G>T (p.Glu376Ter) c.1087G>T (p.Glu363Ter) c.1390G>T (p.Glu464Ter) c.1237G>T (p.Glu413Ter) | gnomAD v4 |
| 8 | g.143728392C= | CA1825940740 | FAM83H | c.1069G= (p.Glu357=) c.1672G= (p.Glu558=) c.249G= c.1126G= (p.Glu376=) c.1087G= (p.Glu363=) c.1390G= (p.Glu464=) c.1237G= (p.Glu413=) | |
| 8 | g.143728392C>G | CA372468688 | FAM83H | c.1069G>C (p.Glu357Gln) c.1672G>C (p.Glu558Gln) c.249G>C c.1126G>C (p.Glu376Gln) c.1087G>C (p.Glu363Gln) c.1390G>C (p.Glu464Gln) c.1237G>C (p.Glu413Gln) | dbSNP |
| 8 | g.143728392C>T | CA4917528 | FAM83H | c.1069G>A (p.Glu357Lys) c.1672G>A (p.Glu558Lys) c.249G>A c.1126G>A (p.Glu376Lys) c.1087G>A (p.Glu363Lys) c.1390G>A (p.Glu464Lys) c.1237G>A (p.Glu413Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143728393_143728397dup | CA2688981005 | FAM83H | c.1065_1069dup (p.Glu357AlafsTer?) c.1668_1672dup (p.Glu558AlafsTer?) c.245_249dup c.1122_1126dup (p.Glu376AlafsTer?) c.1083_1087dup (p.Glu363AlafsTer?) c.1386_1390dup (p.Glu464AlafsTer?) c.1233_1237dup (p.Glu413AlafsTer?) | gnomAD v4 |
| 8 | g.143728393C>A | CA463519632 | FAM83H | c.1068G>T (p.Arg356=) c.1671G>T (p.Arg557=) c.248G>T c.1125G>T (p.Arg375=) c.1086G>T (p.Arg362=) c.1389G>T (p.Arg463=) c.1236G>T (p.Arg412=) | gnomAD v4 |
| 8 | g.143728393C>G | CA463519633 | FAM83H | c.1068G>C (p.Arg356=) c.1671G>C (p.Arg557=) c.248G>C c.1125G>C (p.Arg375=) c.1086G>C (p.Arg362=) c.1389G>C (p.Arg463=) c.1236G>C (p.Arg412=) | gnomAD v4 |
| 8 | g.143728393C>T | CA463519634 | FAM83H | c.1068G>A (p.Arg356=) c.1671G>A (p.Arg557=) c.248G>A c.1125G>A (p.Arg375=) c.1086G>A (p.Arg362=) c.1389G>A (p.Arg463=) c.1236G>A (p.Arg412=) | gnomAD v4 |
| 8 | g.143728394C>A | CA372468691 | FAM83H | c.1067G>T (p.Arg356Leu) c.1670G>T (p.Arg557Leu) c.247G>T c.1124G>T (p.Arg375Leu) c.1085G>T (p.Arg362Leu) c.1388G>T (p.Arg463Leu) c.1235G>T (p.Arg412Leu) | gnomAD v4 |
| 8 | g.143728394C= | CA1825940741 | FAM83H | c.1067G= (p.Arg356=) c.1670G= (p.Arg557=) c.247G= c.1124G= (p.Arg375=) c.1085G= (p.Arg362=) c.1388G= (p.Arg463=) c.1235G= (p.Arg412=) | |
| 8 | g.143728394C>G | CA372468692 | FAM83H | c.1067G>C (p.Arg356Pro) c.1670G>C (p.Arg557Pro) c.247G>C c.1124G>C (p.Arg375Pro) c.1085G>C (p.Arg362Pro) c.1388G>C (p.Arg463Pro) c.1235G>C (p.Arg412Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.143728394C>T | CA372468694 | FAM83H | c.1067G>A (p.Arg356Gln) c.1670G>A (p.Arg557Gln) c.247G>A c.1124G>A (p.Arg375Gln) c.1085G>A (p.Arg362Gln) c.1388G>A (p.Arg463Gln) c.1235G>A (p.Arg412Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143728394_143728400delinsCGGCGGA | CA1825940742 | FAM83H | c.1061_1067delinsTCCGCCG (p.Phe354=) c.1664_1670delinsTCCGCCG (p.Phe555=) c.241_247delinsTCCGCCG c.1118_1124delinsTCCGCCG (p.Phe373=) c.1079_1085delinsTCCGCCG (p.Phe360=) c.1382_1388delinsTCCGCCG (p.Phe461=) c.1229_1235delinsTCCGCCG (p.Phe410=) | |
| 8 | g.143728395_143728404del | CA2688981014 | FAM83H | c.1058_1067del (p.Ala353GlyfsTer?) c.1661_1670del (p.Ala554GlyfsTer?) c.238_247del c.1115_1124del (p.Ala372GlyfsTer?) c.1076_1085del (p.Ala359GlyfsTer?) c.1379_1388del (p.Ala460GlyfsTer?) c.1226_1235del (p.Ala409GlyfsTer?) | gnomAD v4 |
| 8 | g.143728395G>A | CA372468695 | FAM83H | c.1066C>T (p.Arg356Trp) c.1669C>T (p.Arg557Trp) c.246C>T c.1123C>T (p.Arg375Trp) c.1084C>T (p.Arg362Trp) c.1387C>T (p.Arg463Trp) c.1234C>T (p.Arg412Trp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143728395G>C | CA372468696 | FAM83H | c.1066C>G (p.Arg356Gly) c.1669C>G (p.Arg557Gly) c.246C>G c.1123C>G (p.Arg375Gly) c.1084C>G (p.Arg362Gly) c.1387C>G (p.Arg463Gly) c.1234C>G (p.Arg412Gly) | |
| 8 | g.143728395G= | CA1825940744 | FAM83H | c.1066C= (p.Arg356=) c.1669C= (p.Arg557=) c.246C= c.1123C= (p.Arg375=) c.1084C= (p.Arg362=) c.1387C= (p.Arg463=) c.1234C= (p.Arg412=) | |
| 8 | g.143728395G>T | CA463519635 | FAM83H | c.1066C>A (p.Arg356=) c.1669C>A (p.Arg557=) c.246C>A c.1123C>A (p.Arg375=) c.1084C>A (p.Arg362=) c.1387C>A (p.Arg463=) c.1234C>A (p.Arg412=) | gnomAD v4 |
| 8 | g.143728395_143728400del | CA1825940743 | FAM83H | c.1061_1066del (p.Phe354_Arg356delinsTrp) c.1664_1669del (p.Phe555_Arg557delinsTrp) c.241_246del c.1118_1123del (p.Phe373_Arg375delinsTrp) c.1079_1084del (p.Phe360_Arg362delinsTrp) c.1382_1387del (p.Phe461_Arg463delinsTrp) c.1229_1234del (p.Phe410_Arg412delinsTrp) | dbSNP |
| 8 | g.143728396G>A | CA463519636 | FAM83H | c.1065C>T (p.Arg355=) c.1668C>T (p.Arg556=) c.245C>T c.1122C>T (p.Arg374=) c.1083C>T (p.Arg361=) c.1386C>T (p.Arg462=) c.1233C>T (p.Arg411=) | |
| 8 | g.143728396G>C | CA463519637 | FAM83H | c.1065C>G (p.Arg355=) c.1668C>G (p.Arg556=) c.245C>G c.1122C>G (p.Arg374=) c.1083C>G (p.Arg361=) c.1386C>G (p.Arg462=) c.1233C>G (p.Arg411=) | |
| 8 | g.143728396G>T | CA463519638 | FAM83H | c.1065C>A (p.Arg355=) c.1668C>A (p.Arg556=) c.245C>A c.1122C>A (p.Arg374=) c.1083C>A (p.Arg361=) c.1386C>A (p.Arg462=) c.1233C>A (p.Arg411=) | |
| 8 | g.143728397C>A | CA372468697 | FAM83H | c.1064G>T (p.Arg355Leu) c.1667G>T (p.Arg556Leu) c.244G>T c.1121G>T (p.Arg374Leu) c.1082G>T (p.Arg361Leu) c.1385G>T (p.Arg462Leu) c.1232G>T (p.Arg411Leu) | gnomAD v4 |
| 8 | g.143728397C= | CA1825940745 | FAM83H | c.1064G= (p.Arg355=) c.1667G= (p.Arg556=) c.244G= c.1121G= (p.Arg374=) c.1082G= (p.Arg361=) c.1385G= (p.Arg462=) c.1232G= (p.Arg411=) | |
| 8 | g.143728397C>G | CA372468699 | FAM83H | c.1064G>C (p.Arg355Pro) c.1667G>C (p.Arg556Pro) c.244G>C c.1121G>C (p.Arg374Pro) c.1082G>C (p.Arg361Pro) c.1385G>C (p.Arg462Pro) c.1232G>C (p.Arg411Pro) | dbSNP gnomAD v4 |
| 8 | g.143728397C>T | CA372468700 | FAM83H | c.1064G>A (p.Arg355His) c.1667G>A (p.Arg556His) c.244G>A c.1121G>A (p.Arg374His) c.1082G>A (p.Arg361His) c.1385G>A (p.Arg462His) c.1232G>A (p.Arg411His) | gnomAD v4 |
| 8 | g.143728398G>A | CA372468702 | FAM83H | c.1063C>T (p.Arg355Cys) c.1666C>T (p.Arg556Cys) c.243C>T c.1120C>T (p.Arg374Cys) c.1081C>T (p.Arg361Cys) c.1384C>T (p.Arg462Cys) c.1231C>T (p.Arg411Cys) | dbSNP gnomAD v4 |
| 8 | g.143728398G>C | CA372468704 | FAM83H | c.1063C>G (p.Arg355Gly) c.1666C>G (p.Arg556Gly) c.243C>G c.1120C>G (p.Arg374Gly) c.1081C>G (p.Arg361Gly) c.1384C>G (p.Arg462Gly) c.1231C>G (p.Arg411Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.143728398G= | CA1825940746 | FAM83H | c.1063C= (p.Arg355=) c.1666C= (p.Arg556=) c.243C= c.1120C= (p.Arg374=) c.1081C= (p.Arg361=) c.1384C= (p.Arg462=) c.1231C= (p.Arg411=) | |
| 8 | g.143728398G>T | CA372468705 | FAM83H | c.1063C>A (p.Arg355Ser) c.1666C>A (p.Arg556Ser) c.243C>A c.1120C>A (p.Arg374Ser) c.1081C>A (p.Arg361Ser) c.1384C>A (p.Arg462Ser) c.1231C>A (p.Arg411Ser) | gnomAD v4 |
| 8 | g.143728399G>A | CA463519639 | FAM83H | c.1062C>T (p.Phe354=) c.1665C>T (p.Phe555=) c.242C>T c.1119C>T (p.Phe373=) c.1080C>T (p.Phe360=) c.1383C>T (p.Phe461=) c.1230C>T (p.Phe410=) | gnomAD v4 |
| 8 | g.143728399G>C | CA372468707 | FAM83H | c.1062C>G (p.Phe354Leu) c.1665C>G (p.Phe555Leu) c.242C>G c.1119C>G (p.Phe373Leu) c.1080C>G (p.Phe360Leu) c.1383C>G (p.Phe461Leu) c.1230C>G (p.Phe410Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143728399G= | CA1825940747 | FAM83H | c.1062C= (p.Phe354=) c.1665C= (p.Phe555=) c.242C= c.1119C= (p.Phe373=) c.1080C= (p.Phe360=) c.1383C= (p.Phe461=) c.1230C= (p.Phe410=) |