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 |
|---|---|---|---|---|---|
| 1 | g.40306127_40306153dup | CA2645104112 | COL9A2 | c.1047_1053+20dup n.1350_1356+20dup c.1059_1065+20dup c.777_783+20dup c.504_510+20dup c.765_771+20dup | gnomAD v4 |
| 1 | g.40306142C>A | CA339851274 | COL9A2 | c.1053+1G>T (n.1053+1G>T) n.1356+1G>T c.1065+1G>T (n.1065+1G>T) c.783+1G>T (n.783+1G>T) c.510+1G>T (n.510+1G>T) c.771+1G>T (n.771+1G>T) | |
| 1 | g.40306142C= | CA1164337283 | COL9A2 | c.1053+1G= (n.1053+1G=) n.1356+1G= c.1065+1G= (n.1065+1G=) c.783+1G= (n.783+1G=) c.510+1G= (n.510+1G=) c.771+1G= (n.771+1G=) | |
| 1 | g.40306142C>G | CA339851270 | COL9A2 | c.1053+1G>C (n.1053+1G>C) n.1356+1G>C c.1065+1G>C (n.1065+1G>C) c.783+1G>C (n.783+1G>C) c.510+1G>C (n.510+1G>C) c.771+1G>C (n.771+1G>C) | |
| 1 | g.40306142C>T | CA16621561 | COL9A2 | c.1053+1G>A (n.1053+1G>A) n.1356+1G>A c.1065+1G>A (n.1065+1G>A) c.783+1G>A (n.783+1G>A) c.510+1G>A (n.510+1G>A) c.771+1G>A (n.771+1G>A) | ClinVar dbSNP gnomAD v4 |
| 1 | g.40306143C>A | CA339851277 | COL9A2 | c.1053G>T (p.Gln351His) n.1356G>T c.1065G>T (p.Gln355His) c.783G>T (p.Gln261His) c.510G>T (p.Gln170His) c.771G>T (p.Gln257His) | |
| 1 | g.40306143C>G | CA339851279 | COL9A2 | c.1053G>C (p.Gln351His) n.1356G>C c.1065G>C (p.Gln355His) c.783G>C (p.Gln261His) c.510G>C (p.Gln170His) c.771G>C (p.Gln257His) | |
| 1 | g.40306143C>T | CA417330087 | COL9A2 | c.1053G>A (p.Gln351=) n.1356G>A c.1065G>A (p.Gln355=) c.783G>A (p.Gln261=) c.510G>A (p.Gln170=) c.771G>A (p.Gln257=) | |
| 1 | g.40306144T>A | CA339851283 | COL9A2 | c.1052A>T (p.Gln351Leu) n.1355A>T c.1064A>T (p.Gln355Leu) c.782A>T (p.Gln261Leu) c.509A>T (p.Gln170Leu) c.770A>T (p.Gln257Leu) | |
| 1 | g.40306144T>C | CA21041537 | COL9A2 | c.1052A>G (p.Gln351Arg) n.1355A>G c.1064A>G (p.Gln355Arg) c.782A>G (p.Gln261Arg) c.509A>G (p.Gln170Arg) c.770A>G (p.Gln257Arg) | dbSNP |
| 1 | g.40306144T>G | CA339851287 | COL9A2 | c.1052A>C (p.Gln351Pro) n.1355A>C c.1064A>C (p.Gln355Pro) c.782A>C (p.Gln261Pro) c.509A>C (p.Gln170Pro) c.770A>C (p.Gln257Pro) | |
| 1 | g.40306144T= | CA1164337284 | COL9A2 | c.1052A= (p.Gln351=) n.1355A= c.1064A= (p.Gln355=) c.782A= (p.Gln261=) c.509A= (p.Gln170=) c.770A= (p.Gln257=) | |
| 1 | g.40306145G>A | CA339851290 | COL9A2 | c.1051C>T (p.Gln351Ter) n.1354C>T c.1063C>T (p.Gln355Ter) c.781C>T (p.Gln261Ter) c.508C>T (p.Gln170Ter) c.769C>T (p.Gln257Ter) | ClinVar |
| 1 | g.40306145G>C | CA339851296 | COL9A2 | c.1051C>G (p.Gln351Glu) n.1354C>G c.1063C>G (p.Gln355Glu) c.781C>G (p.Gln261Glu) c.508C>G (p.Gln170Glu) c.769C>G (p.Gln257Glu) | |
| 1 | g.40306145G>T | CA339851293 | COL9A2 | c.1051C>A (p.Gln351Lys) n.1354C>A c.1063C>A (p.Gln355Lys) c.781C>A (p.Gln261Lys) c.508C>A (p.Gln170Lys) c.769C>A (p.Gln257Lys) | |
| 1 | g.40306146G>A | CA417330091 | COL9A2 | c.1050C>T (p.Asp350=) n.1353C>T c.1062C>T (p.Asp354=) c.780C>T (p.Asp260=) c.507C>T (p.Asp169=) c.768C>T (p.Asp256=) | |
| 1 | g.40306146G>C | CA339851299 | COL9A2 | c.1050C>G (p.Asp350Glu) n.1353C>G c.1062C>G (p.Asp354Glu) c.780C>G (p.Asp260Glu) c.507C>G (p.Asp169Glu) c.768C>G (p.Asp256Glu) | |
| 1 | g.40306146G>T | CA339851301 | COL9A2 | c.1050C>A (p.Asp350Glu) n.1353C>A c.1062C>A (p.Asp354Glu) c.780C>A (p.Asp260Glu) c.507C>A (p.Asp169Glu) c.768C>A (p.Asp256Glu) | |
| 1 | g.40306147T>A | CA339851305 | COL9A2 | c.1049A>T (p.Asp350Val) n.1352A>T c.1061A>T (p.Asp354Val) c.779A>T (p.Asp260Val) c.506A>T (p.Asp169Val) c.767A>T (p.Asp256Val) | |
| 1 | g.40306147T>C | CA791622 | COL9A2 | c.1049A>G (p.Asp350Gly) n.1352A>G c.1061A>G (p.Asp354Gly) c.779A>G (p.Asp260Gly) c.506A>G (p.Asp169Gly) c.767A>G (p.Asp256Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.40306147T>G | CA339851309 | COL9A2 | c.1049A>C (p.Asp350Ala) n.1352A>C c.1061A>C (p.Asp354Ala) c.779A>C (p.Asp260Ala) c.506A>C (p.Asp169Ala) c.767A>C (p.Asp256Ala) | |
| 1 | g.40306147T= | CA1164337285 | COL9A2 | c.1049A= (p.Asp350=) n.1352A= c.1061A= (p.Asp354=) c.779A= (p.Asp260=) c.506A= (p.Asp169=) c.767A= (p.Asp256=) | |
| 1 | g.40306148C>A | CA339851312 | COL9A2 | c.1048G>T (p.Asp350Tyr) n.1351G>T c.1060G>T (p.Asp354Tyr) c.778G>T (p.Asp260Tyr) c.505G>T (p.Asp169Tyr) c.766G>T (p.Asp256Tyr) | |
| 1 | g.40306148C= | CA1164337286 | COL9A2 | c.1048G= (p.Asp350=) n.1351G= c.1060G= (p.Asp354=) c.778G= (p.Asp260=) c.505G= (p.Asp169=) c.766G= (p.Asp256=) | |
| 1 | g.40306148C>G | CA339851315 | COL9A2 | c.1048G>C (p.Asp350His) n.1351G>C c.1060G>C (p.Asp354His) c.778G>C (p.Asp260His) c.505G>C (p.Asp169His) c.766G>C (p.Asp256His) | dbSNP gnomAD v4 |
| 1 | g.40306148C>T | CA339851318 | COL9A2 | c.1048G>A (p.Asp350Asn) n.1351G>A c.1060G>A (p.Asp354Asn) c.778G>A (p.Asp260Asn) c.505G>A (p.Asp169Asn) c.766G>A (p.Asp256Asn) | gnomAD v4 |
| 1 | g.40306149T>A | CA417330095 | COL9A2 | c.1047A>T (p.Gly349=) n.1350A>T c.1059A>T (p.Gly353=) c.777A>T (p.Gly259=) c.504A>T (p.Gly168=) c.765A>T (p.Gly255=) | |
| 1 | g.40306149T>C | CA417330096 | COL9A2 | c.1047A>G (p.Gly349=) n.1350A>G c.1059A>G (p.Gly353=) c.777A>G (p.Gly259=) c.504A>G (p.Gly168=) c.765A>G (p.Gly255=) | |
| 1 | g.40306149T>G | CA417330097 | COL9A2 | c.1047A>C (p.Gly349=) n.1350A>C c.1059A>C (p.Gly353=) c.777A>C (p.Gly259=) c.504A>C (p.Gly168=) c.765A>C (p.Gly255=) | |
| 1 | g.40306150C>A | CA339851321 | COL9A2 | c.1046G>T (p.Gly349Val) n.1349G>T c.1058G>T (p.Gly353Val) c.776G>T (p.Gly259Val) c.503G>T (p.Gly168Val) c.764G>T (p.Gly255Val) | |
| 1 | g.40306150C>G | CA339851325 | COL9A2 | c.1046G>C (p.Gly349Ala) n.1349G>C c.1058G>C (p.Gly353Ala) c.776G>C (p.Gly259Ala) c.503G>C (p.Gly168Ala) c.764G>C (p.Gly255Ala) | |
| 1 | g.40306150C>T | CA339851328 | COL9A2 | c.1046G>A (p.Gly349Glu) n.1349G>A c.1058G>A (p.Gly353Glu) c.776G>A (p.Gly259Glu) c.503G>A (p.Gly168Glu) c.764G>A (p.Gly255Glu) | |
| 1 | g.40306151C>A | CA339851333 | COL9A2 | c.1045G>T (p.Gly349Ter) n.1348G>T c.1057G>T (p.Gly353Ter) c.775G>T (p.Gly259Ter) c.502G>T (p.Gly168Ter) c.763G>T (p.Gly255Ter) | |
| 1 | g.40306151C>G | CA339851338 | COL9A2 | c.1045G>C (p.Gly349Arg) n.1348G>C c.1057G>C (p.Gly353Arg) c.775G>C (p.Gly259Arg) c.502G>C (p.Gly168Arg) c.763G>C (p.Gly255Arg) | |
| 1 | g.40306151C>T | CA339851336 | COL9A2 | c.1045G>A (p.Gly349Arg) n.1348G>A c.1057G>A (p.Gly353Arg) c.775G>A (p.Gly259Arg) c.502G>A (p.Gly168Arg) c.763G>A (p.Gly255Arg) | |
| 1 | g.40306152A>C | CA417330101 | COL9A2 | c.1044T>G (p.Pro348=) n.1347T>G c.1056T>G (p.Pro352=) c.774T>G (p.Pro258=) c.501T>G (p.Pro167=) c.762T>G (p.Pro254=) | |
| 1 | g.40306152A>G | CA417330100 | COL9A2 | c.1044T>C (p.Pro348=) n.1347T>C c.1056T>C (p.Pro352=) c.774T>C (p.Pro258=) c.501T>C (p.Pro167=) c.762T>C (p.Pro254=) | |
| 1 | g.40306152A>T | CA417330099 | COL9A2 | c.1044T>A (p.Pro348=) n.1347T>A c.1056T>A (p.Pro352=) c.774T>A (p.Pro258=) c.501T>A (p.Pro167=) c.762T>A (p.Pro254=) | |
| 1 | g.40306153G>A | CA339851343 | COL9A2 | c.1043C>T (p.Pro348Leu) n.1346C>T c.1055C>T (p.Pro352Leu) c.773C>T (p.Pro258Leu) c.500C>T (p.Pro167Leu) c.761C>T (p.Pro254Leu) | dbSNP |
| 1 | g.40306153G>C | CA339851348 | COL9A2 | c.1043C>G (p.Pro348Arg) n.1346C>G c.1055C>G (p.Pro352Arg) c.773C>G (p.Pro258Arg) c.500C>G (p.Pro167Arg) c.761C>G (p.Pro254Arg) | |
| 1 | g.40306153G>T | CA339851345 | COL9A2 | c.1043C>A (p.Pro348His) n.1346C>A c.1055C>A (p.Pro352His) c.773C>A (p.Pro258His) c.500C>A (p.Pro167His) c.761C>A (p.Pro254His) | |
| 1 | g.40306154G>A | CA339851351 | COL9A2 | c.1042C>T (p.Pro348Ser) n.1345C>T c.1054C>T (p.Pro352Ser) c.772C>T (p.Pro258Ser) c.499C>T (p.Pro167Ser) c.760C>T (p.Pro254Ser) | |
| 1 | g.40306154G>C | CA339851357 | COL9A2 | c.1042C>G (p.Pro348Ala) n.1345C>G c.1054C>G (p.Pro352Ala) c.772C>G (p.Pro258Ala) c.499C>G (p.Pro167Ala) c.760C>G (p.Pro254Ala) | |
| 1 | g.40306154G>T | CA339851354 | COL9A2 | c.1042C>A (p.Pro348Thr) n.1345C>A c.1054C>A (p.Pro352Thr) c.772C>A (p.Pro258Thr) c.499C>A (p.Pro167Thr) c.760C>A (p.Pro254Thr) | |
| 1 | g.40306155G>A | CA241924 | COL9A2 | c.1041C>T (p.Gly347=) n.1344C>T c.1053C>T (p.Gly351=) c.771C>T (p.Gly257=) c.498C>T (p.Gly166=) c.759C>T (p.Gly253=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.40306155G>C | CA417330105 | COL9A2 | c.1041C>G (p.Gly347=) n.1344C>G c.1053C>G (p.Gly351=) c.771C>G (p.Gly257=) c.498C>G (p.Gly166=) c.759C>G (p.Gly253=) | |
| 1 | g.40306155G= | CA1141645241 | COL9A2 | c.1041C= (p.Gly347=) n.1344C= c.1053C= (p.Gly351=) c.771C= (p.Gly257=) c.498C= (p.Gly166=) c.759C= (p.Gly253=) | |
| 1 | g.40306155G>T | CA417330106 | COL9A2 | c.1041C>A (p.Gly347=) n.1344C>A c.1053C>A (p.Gly351=) c.771C>A (p.Gly257=) c.498C>A (p.Gly166=) c.759C>A (p.Gly253=) | ClinVar |
| 1 | g.40306156C>A | CA339851361 | COL9A2 | c.1040G>T (p.Gly347Val) n.1343G>T c.1052G>T (p.Gly351Val) c.770G>T (p.Gly257Val) c.497G>T (p.Gly166Val) c.758G>T (p.Gly253Val) | |
| 1 | g.40306156C= | CA1164337287 | COL9A2 | c.1040G= (p.Gly347=) n.1343G= c.1052G= (p.Gly351=) c.770G= (p.Gly257=) c.497G= (p.Gly166=) c.758G= (p.Gly253=) |