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 |
|---|---|---|---|---|---|
| X | g.136016705_136016707delinsCTG | CA2460195678 | SLC9A6 | c.1297_1299delinsCTG (p.Leu433=) c.1141_1143delinsCTG (p.Leu381=) n.576_578delinsCTG c.1045_1047delinsCTG (p.Leu349=) n.1084_1086delinsCTG c.1201_1203delinsCTG (p.Leu401=) | |
| X | g.136016707_136016708del | CA16621205 | SLC9A6 | c.1299_1300del (p.Phe434HisfsTer8) c.1143_1144del (p.Phe382HisfsTer8) n.578_579del c.1047_1048del (p.Phe350HisfsTer8) n.1086_1087del c.1203_1204del (p.Phe402HisfsTer8) | ClinVar dbSNP |
| X | g.136016707G>A | CA16608700 | SLC9A6 | c.1299G>A (p.Leu433=) c.1143G>A (p.Leu381=) n.578G>A c.1047G>A (p.Leu349=) n.1086G>A c.1203G>A (p.Leu401=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.136016707G>C | CA518753554 | SLC9A6 | c.1299G>C (p.Leu433=) c.1143G>C (p.Leu381=) n.578G>C c.1047G>C (p.Leu349=) n.1086G>C c.1203G>C (p.Leu401=) | |
| X | g.136016707G= | CA2460195679 | SLC9A6 | c.1299G= (p.Leu433=) c.1143G= (p.Leu381=) n.578G= c.1047G= (p.Leu349=) n.1086G= c.1203G= (p.Leu401=) | |
| X | g.136016707G>T | CA518753553 | SLC9A6 | c.1299G>T (p.Leu433=) c.1143G>T (p.Leu381=) n.578G>T c.1047G>T (p.Leu349=) n.1086G>T c.1203G>T (p.Leu401=) | |
| X | g.136016708T>A | CA414752864 | SLC9A6 | c.1300T>A (p.Phe434Ile) c.1144T>A (p.Phe382Ile) n.579T>A c.1048T>A (p.Phe350Ile) n.1087T>A c.1204T>A (p.Phe402Ile) | |
| X | g.136016708T>C | CA414752865 | SLC9A6 | c.1300T>C (p.Phe434Leu) c.1144T>C (p.Phe382Leu) n.579T>C c.1048T>C (p.Phe350Leu) n.1087T>C c.1204T>C (p.Phe402Leu) | |
| X | g.136016708T>G | CA414752869 | SLC9A6 | c.1300T>G (p.Phe434Val) c.1144T>G (p.Phe382Val) n.579T>G c.1048T>G (p.Phe350Val) n.1087T>G c.1204T>G (p.Phe402Val) | |
| X | g.136016709T>A | CA414752875 | SLC9A6 | c.1301T>A (p.Phe434Tyr) c.1145T>A (p.Phe382Tyr) n.580T>A c.1049T>A (p.Phe350Tyr) n.1088T>A c.1205T>A (p.Phe402Tyr) | |
| X | g.136016709T>C | CA414752879 | SLC9A6 | c.1301T>C (p.Phe434Ser) c.1145T>C (p.Phe382Ser) n.580T>C c.1049T>C (p.Phe350Ser) n.1088T>C c.1205T>C (p.Phe402Ser) | |
| X | g.136016709T>G | CA414752877 | SLC9A6 | c.1301T>G (p.Phe434Cys) c.1145T>G (p.Phe382Cys) n.580T>G c.1049T>G (p.Phe350Cys) n.1088T>G c.1205T>G (p.Phe402Cys) | |
| X | g.136016710C>A | CA414752882 | SLC9A6 | c.1302C>A (p.Phe434Leu) c.1146C>A (p.Phe382Leu) n.581C>A c.1050C>A (p.Phe350Leu) n.1089C>A c.1206C>A (p.Phe402Leu) | gnomAD v4 |
| X | g.136016710C>G | CA414752884 | SLC9A6 | c.1302C>G (p.Phe434Leu) c.1146C>G (p.Phe382Leu) n.581C>G c.1050C>G (p.Phe350Leu) n.1089C>G c.1206C>G (p.Phe402Leu) | |
| X | g.136016710C>T | CA518753556 | SLC9A6 | c.1302C>T (p.Phe434=) c.1146C>T (p.Phe382=) n.581C>T c.1050C>T (p.Phe350=) n.1089C>T c.1206C>T (p.Phe402=) | gnomAD v4 |
| X | g.136016711A>C | CA414752887 | SLC9A6 | c.1303A>C (p.Thr435Pro) c.1147A>C (p.Thr383Pro) n.582A>C c.1051A>C (p.Thr351Pro) n.1090A>C c.1207A>C (p.Thr403Pro) | |
| X | g.136016711A>G | CA414752890 | SLC9A6 | c.1303A>G (p.Thr435Ala) c.1147A>G (p.Thr383Ala) n.582A>G c.1051A>G (p.Thr351Ala) n.1090A>G c.1207A>G (p.Thr403Ala) | |
| X | g.136016711A>T | CA414752896 | SLC9A6 | c.1303A>T (p.Thr435Ser) c.1147A>T (p.Thr383Ser) n.582A>T c.1051A>T (p.Thr351Ser) n.1090A>T c.1207A>T (p.Thr403Ser) | |
| X | g.136016712C>A | CA414752899 | SLC9A6 | c.1304C>A (p.Thr435Asn) c.1148C>A (p.Thr383Asn) n.583C>A c.1052C>A (p.Thr351Asn) n.1091C>A c.1208C>A (p.Thr403Asn) | gnomAD v4 |
| X | g.136016712C>G | CA414752901 | SLC9A6 | c.1304C>G (p.Thr435Ser) c.1148C>G (p.Thr383Ser) n.583C>G c.1052C>G (p.Thr351Ser) n.1091C>G c.1208C>G (p.Thr403Ser) | |
| X | g.136016712C>T | CA414752902 | SLC9A6 | c.1304C>T (p.Thr435Ile) c.1148C>T (p.Thr383Ile) n.583C>T c.1052C>T (p.Thr351Ile) n.1091C>T c.1208C>T (p.Thr403Ile) | |
| X | g.136016713C>A | CA518753557 | SLC9A6 | c.1305C>A (p.Thr435=) c.1149C>A (p.Thr383=) n.584C>A c.1053C>A (p.Thr351=) n.1092C>A c.1209C>A (p.Thr403=) | gnomAD v4 |
| X | g.136016713C>G | CA518753558 | SLC9A6 | c.1305C>G (p.Thr435=) c.1149C>G (p.Thr383=) n.584C>G c.1053C>G (p.Thr351=) n.1092C>G c.1209C>G (p.Thr403=) | |
| X | g.136016713C>T | CA518753559 | SLC9A6 | c.1305C>T (p.Thr435=) c.1149C>T (p.Thr383=) n.584C>T c.1053C>T (p.Thr351=) n.1092C>T c.1209C>T (p.Thr403=) | |
| X | g.136016714T>A | CA414752905 | SLC9A6 | c.1306T>A (p.Phe436Ile) c.1150T>A (p.Phe384Ile) n.585T>A c.1054T>A (p.Phe352Ile) n.1093T>A c.1210T>A (p.Phe404Ile) | |
| X | g.136016714T>C | CA414752906 | SLC9A6 | c.1306T>C (p.Phe436Leu) c.1150T>C (p.Phe384Leu) n.585T>C c.1054T>C (p.Phe352Leu) n.1093T>C c.1210T>C (p.Phe404Leu) | ClinVar dbSNP |
| X | g.136016714T>G | CA414752909 | SLC9A6 | c.1306T>G (p.Phe436Val) c.1150T>G (p.Phe384Val) n.585T>G c.1054T>G (p.Phe352Val) n.1093T>G c.1210T>G (p.Phe404Val) | gnomAD v4 |
| X | g.136016715T>A | CA414752915 | SLC9A6 | c.1307T>A (p.Phe436Tyr) c.1151T>A (p.Phe384Tyr) n.586T>A c.1055T>A (p.Phe352Tyr) n.1094T>A c.1211T>A (p.Phe404Tyr) | |
| X | g.136016715T>C | CA414752917 | SLC9A6 | c.1307T>C (p.Phe436Ser) c.1151T>C (p.Phe384Ser) n.586T>C c.1055T>C (p.Phe352Ser) n.1094T>C c.1211T>C (p.Phe404Ser) | |
| X | g.136016715T>G | CA414752912 | SLC9A6 | c.1307T>G (p.Phe436Cys) c.1151T>G (p.Phe384Cys) n.586T>G c.1055T>G (p.Phe352Cys) n.1094T>G c.1211T>G (p.Phe404Cys) | |
| X | g.136016716C>A | CA414752923 | SLC9A6 | c.1308C>A (p.Phe436Leu) c.1152C>A (p.Phe384Leu) n.587C>A c.1056C>A (p.Phe352Leu) n.1095C>A c.1212C>A (p.Phe404Leu) | gnomAD v4 |
| X | g.136016716C>G | CA414752920 | SLC9A6 | c.1308C>G (p.Phe436Leu) c.1152C>G (p.Phe384Leu) n.587C>G c.1056C>G (p.Phe352Leu) n.1095C>G c.1212C>G (p.Phe404Leu) | |
| X | g.136016716C>T | CA518753560 | SLC9A6 | c.1308C>T (p.Phe436=) c.1152C>T (p.Phe384=) n.587C>T c.1056C>T (p.Phe352=) n.1095C>T c.1212C>T (p.Phe404=) | gnomAD v4 |
| X | g.136016717del | CA2579709803 | SLC9A6 | c.1309del (p.Gln437ArgfsTer10) c.1153del (p.Gln385ArgfsTer10) n.588del c.1057del (p.Gln353ArgfsTer10) n.1096del c.1213del (p.Gln405ArgfsTer10) | |
| X | g.136016717C>A | CA414752927 | SLC9A6 | c.1309C>A (p.Gln437Lys) c.1153C>A (p.Gln385Lys) n.588C>A c.1057C>A (p.Gln353Lys) n.1096C>A c.1213C>A (p.Gln405Lys) | gnomAD v4 |
| X | g.136016717C>G | CA414752930 | SLC9A6 | c.1309C>G (p.Gln437Glu) c.1153C>G (p.Gln385Glu) n.588C>G c.1057C>G (p.Gln353Glu) n.1096C>G c.1213C>G (p.Gln405Glu) | |
| X | g.136016717C>T | CA414752931 | SLC9A6 | c.1309C>T (p.Gln437Ter) c.1153C>T (p.Gln385Ter) n.588C>T c.1057C>T (p.Gln353Ter) n.1096C>T c.1213C>T (p.Gln405Ter) | gnomAD v4 |
| X | g.136016718A= | CA2460195680 | SLC9A6 | c.1310A= (p.Gln437=) c.1154A= (p.Gln385=) n.589A= c.1058A= (p.Gln353=) n.1097A= c.1214A= (p.Gln405=) | |
| X | g.136016718A>C | CA414752934 | SLC9A6 | c.1310A>C (p.Gln437Pro) c.1154A>C (p.Gln385Pro) n.589A>C c.1058A>C (p.Gln353Pro) n.1097A>C c.1214A>C (p.Gln405Pro) | |
| X | g.136016718A>G | CA414752937 | SLC9A6 | c.1310A>G (p.Gln437Arg) c.1154A>G (p.Gln385Arg) n.589A>G c.1058A>G (p.Gln353Arg) n.1097A>G c.1214A>G (p.Gln405Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.136016718A>T | CA414752940 | SLC9A6 | c.1310A>T (p.Gln437Leu) c.1154A>T (p.Gln385Leu) n.589A>T c.1058A>T (p.Gln353Leu) n.1097A>T c.1214A>T (p.Gln405Leu) | |
| X | g.136016719G>A | CA518753561 | SLC9A6 | c.1311G>A (p.Gln437=) c.1155G>A (p.Gln385=) n.590G>A c.1059G>A (p.Gln353=) n.1098G>A c.1215G>A (p.Gln405=) | gnomAD v4 |
| X | g.136016719G>C | CA414752942 | SLC9A6 | c.1311G>C (p.Gln437His) c.1155G>C (p.Gln385His) n.590G>C c.1059G>C (p.Gln353His) n.1098G>C c.1215G>C (p.Gln405His) | |
| X | g.136016719G>T | CA414752946 | SLC9A6 | c.1311G>T (p.Gln437His) c.1155G>T (p.Gln385His) n.590G>T c.1059G>T (p.Gln353His) n.1098G>T c.1215G>T (p.Gln405His) | |
| X | g.136016720A>C | CA414752947 | SLC9A6 | c.1312A>C (p.Asn438His) c.1156A>C (p.Asn386His) n.591A>C c.1060A>C (p.Asn354His) n.1099A>C c.1216A>C (p.Asn406His) | |
| X | g.136016720A>G | CA414752949 | SLC9A6 | c.1312A>G (p.Asn438Asp) c.1156A>G (p.Asn386Asp) n.591A>G c.1060A>G (p.Asn354Asp) n.1099A>G c.1216A>G (p.Asn406Asp) | |
| X | g.136016720A>T | CA414752952 | SLC9A6 | c.1312A>T (p.Asn438Tyr) c.1156A>T (p.Asn386Tyr) n.591A>T c.1060A>T (p.Asn354Tyr) n.1099A>T c.1216A>T (p.Asn406Tyr) | |
| X | g.136016721A= | CA2460195681 | SLC9A6 | c.1313A= (p.Asn438=) c.1157A= (p.Asn386=) n.592A= c.1061A= (p.Asn354=) n.1100A= c.1217A= (p.Asn406=) | |
| X | g.136016721A>C | CA414752958 | SLC9A6 | c.1313A>C (p.Asn438Thr) c.1157A>C (p.Asn386Thr) n.592A>C c.1061A>C (p.Asn354Thr) n.1100A>C c.1217A>C (p.Asn406Thr) | |
| X | g.136016721A>G | CA10524775 | SLC9A6 | c.1313A>G (p.Asn438Ser) c.1157A>G (p.Asn386Ser) n.592A>G c.1061A>G (p.Asn354Ser) n.1100A>G c.1217A>G (p.Asn406Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |