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 |
|---|---|---|---|---|---|
| 19 | g.11100222_11107515del | CA658824387 | LDLR | c.326-1_1198+1del c.68-1_940+1del c.322-1_1194+1del c.68-1_436+1del c.68-1_817+1del c.68-1_559+1del n.218-1_1090+1del n.185-1_1057+1del | ClinVar |
| 19 | g.11101932_11106610del | CA1139666288 | LDLR | c.449-732_998del c.191-732_740del c.445-732_994del c.191-732_314-782del c.190+1587_617del c.191-732_359del n.341-732_890del n.308-732_857del | ClinVar |
| 19 | g.11102141_11108134del | CA2573050561 | LDLR | c.449-523_1198+620del c.191-523_940+620del c.445-523_1194+620del c.191-523_436+620del c.190+1796_817+620del c.191-523_559+620del n.341-523_1090+620del n.308-523_1057+620del | |
| 19 | g.11102152_11108145del | CA10584784 | LDLR | c.449-512_1198+631del c.191-512_940+631del c.445-512_1194+631del c.191-512_436+631del c.190+1807_817+631del c.191-512_559+631del n.341-512_1090+631del n.308-512_1057+631del | ClinVar |
| 19 | g.11102477_11108484del | CA2573050562 | LDLR | c.449-187_1198+970del c.191-187_940+970del c.445-187_1194+970del c.191-187_436+970del c.190+2132_817+970del c.191-187_559+970del n.341-187_1090+970del n.308-187_1057+970del | |
| 19 | g.11102664_11105600del | CA2580061394 | LDLR | c.449_952del c.191_694del c.445_948del c.191_314-1792del c.190+2319_571del c.191_314-965del n.341_844del n.308_811del | ClinVar |
| 19 | g.11102664_11106687del | CA10584788 | LDLR | c.449_1075del c.191_817del c.445_1071del c.191_314-705del c.190+2319_694del c.191_436del n.341_967del n.308_934del | |
| 19 | g.11102663_11107515del | CA658824388 | LDLR | c.449-1_1198+1del c.191-1_940+1del c.445-1_1194+1del c.191-1_436+1del c.190+2318_817+1del c.191-1_559+1del n.341-1_1090+1del n.308-1_1057+1del | ClinVar |
| 19 | g.11102785_11107393del | CA916084172 | LDLR | c.570_1077del c.312_819del c.566_1073del c.312_315del c.191-2435_696del c.312_438del n.462_969del n.429_936del | |
| 19 | g.11104109_11109216del | CA2573050567 | LDLR | c.572-1111_1199-1436del c.314-1111_941-1436del c.314-1111_940+1702del c.568-1111_1195-1436del c.313+1323_437-1436del c.191-1111_818-1436del c.313+1323_560-1436del n.464-1111_1091-1436del n.431-1111_1058-1436del | |
| 19 | g.11104774_11112892dup | CA2580612594 | LDLR | c.572-446_1445-386dup c.314-446_1187-386dup c.314-446_1067-386dup c.568-446_1441-386dup c.313+1988_683-386dup c.191-446_1064-386dup c.314-1791_806-386dup n.464-446_1337-386dup n.431-446_1304-386dup | |
| 19 | g.11105158_11111699dup | CA2580612596 | LDLR | c.572-62_1444+60dup c.314-62_1186+60dup c.314-62_1066+60dup c.568-62_1440+60dup c.314-2234_682+60dup c.191-62_1063+60dup c.314-1407_805+60dup n.464-62_1336+60dup n.431-62_1303+60dup | |
| 19 | g.11105170_11111689dup | CA2580612597 | LDLR | c.572-50_1444+50dup c.314-50_1186+50dup c.314-50_1066+50dup c.568-50_1440+50dup c.314-2222_682+50dup c.191-50_1063+50dup c.314-1395_805+50dup n.464-50_1336+50dup n.431-50_1303+50dup | |
| 19 | g.11105352_11110660del | CA915941069 | LDLR | c.704_1207del c.446_949del c.446_941-854del c.700_1203del c.314-2040_445del c.323_826del c.314-1213_568del c.46_541-854del n.596_1099del n.563_1066del | |
| 19 | g.11105403_11105427del | CA2695223203 | LDLR | c.755_779del (p.Ala252GlufsTer?) c.497_521del (p.Ala166GlufsTer?) c.751_775del c.314-1989_314-1965del (n.314-1989_314-1965del) c.374_398del (p.Ala125GlufsTer?) c.314-1162_314-1138del (n.314-1162_314-1138del) c.97_121del n.647_671del n.614_638del | |
| 19 | g.11105410_11105427del | CA2695238662 | LDLR | c.762_779del (p.Asp254_Cys259del) c.504_521del (p.Asp168_Cys173del) c.758_775del c.314-1982_314-1965del (n.314-1982_314-1965del) c.381_398del (p.Asp127_Cys132del) c.314-1155_314-1138del (n.314-1155_314-1138del) c.104_121del n.654_671del n.621_638del | |
| 19 | g.11105409_11105416delinsACAACGAC | CA2322767438 | LDLR | c.761_768delinsACAACGAC (p.Asp254=) c.503_510delinsACAACGAC (p.Asp168=) c.757_764delinsACAACGAC c.314-1983_314-1976delinsACAACGAC (n.314-1983_314-1976delinsACAACGAC) c.380_387delinsACAACGAC (p.Asp127=) c.314-1156_314-1149delinsACAACGAC (n.314-1156_314-1149delinsACAACGAC) c.103_110delinsACAACGAC n.653_660delinsACAACGAC n.620_627delinsACAACGAC | |
| 19 | g.11105411_11105417del | CA913188993 | LDLR | c.763_769del (p.Asn255ProfsTer?) c.505_511del (p.Asn169ProfsTer?) c.759_765del c.314-1981_314-1975del (n.314-1981_314-1975del) c.382_388del (p.Asn128ProfsTer?) c.314-1154_314-1148del (n.314-1154_314-1148del) c.105_111del n.655_661del n.622_628del | ClinVar dbSNP |
| 19 | g.11105414_11105416del | CA2580096447 | LDLR | c.766_768del (p.Asp256del) c.508_510del (p.Asp170del) c.762_764del c.314-1978_314-1976del (n.314-1978_314-1976del) c.385_387del (p.Asp129del) c.314-1151_314-1149del (n.314-1151_314-1149del) c.108_110del n.658_660del n.625_627del | ClinVar |
| 19 | g.11105415_11105416delinsAC | CA2322767445 | LDLR | c.767_768delinsAC (p.Asp256=) c.509_510delinsAC (p.Asp170=) c.763_764delinsAC c.314-1977_314-1976delinsAC (n.314-1977_314-1976delinsAC) c.386_387delinsAC (p.Asp129=) c.314-1150_314-1149delinsAC (n.314-1150_314-1149delinsAC) c.109_110delinsAC n.659_660delinsAC n.626_627delinsAC | |
| 19 | g.11105416C>A | CA16609804 | LDLR | c.768C>A (p.Asp256Glu) c.510C>A (p.Asp170Glu) c.764C>A c.314-1976C>A (n.314-1976C>A) c.387C>A (p.Asp129Glu) c.314-1149C>A (n.314-1149C>A) c.110C>A n.660C>A n.627C>A | ClinVar dbSNP |
| 19 | g.11105416C= | CA2322767446 | LDLR | c.768C= (p.Asp256=) c.510C= (p.Asp170=) c.764C= c.314-1976C= (n.314-1976C=) c.387C= (p.Asp129=) c.314-1149C= (n.314-1149C=) c.110C= n.660C= n.627C= | |
| 19 | g.11105416C>G | CA404076916 | LDLR | c.768C>G (p.Asp256Glu) c.510C>G (p.Asp170Glu) c.764C>G c.314-1976C>G (n.314-1976C>G) c.387C>G (p.Asp129Glu) c.314-1149C>G (n.314-1149C>G) c.110C>G n.660C>G n.627C>G | gnomAD v4 |
| 19 | g.11105416C>T | CA505743201 | LDLR | c.768C>T (p.Asp256=) c.510C>T (p.Asp170=) c.764C>T c.314-1976C>T (n.314-1976C>T) c.387C>T (p.Asp129=) c.314-1149C>T (n.314-1149C>T) c.110C>T n.660C>T n.627C>T | gnomAD v4 |
| 19 | g.11105419dup | CA10584956 | LDLR | c.771dup (p.Asp258ArgfsTer8) c.513dup (p.Asp172ArgfsTer8) c.767dup c.314-1973dup (n.314-1973dup) c.390dup (p.Asp131ArgfsTer8) c.314-1146dup (n.314-1146dup) c.113dup n.663dup n.630dup | ClinVar dbSNP |
| 19 | g.11105419del | CA10584955 | LDLR | c.771del (p.Asp258ThrfsTer?) c.513del (p.Asp172ThrfsTer?) c.767del c.314-1973del (n.314-1973del) c.390del (p.Asp131ThrfsTer?) c.314-1146del (n.314-1146del) c.113del n.663del n.630del | ClinVar dbSNP gnomAD v4 |
| 19 | g.11105417C>A | CA404076924 | LDLR | c.769C>A (p.Pro257Thr) c.511C>A (p.Pro171Thr) c.765C>A c.314-1975C>A (n.314-1975C>A) c.388C>A (p.Pro130Thr) c.314-1148C>A (n.314-1148C>A) c.111C>A n.661C>A n.628C>A | ClinVar dbSNP |
| 19 | g.11105417C= | CA2322767447 | LDLR | c.769C= (p.Pro257=) c.511C= (p.Pro171=) c.765C= c.314-1975C= (n.314-1975C=) c.388C= (p.Pro130=) c.314-1148C= (n.314-1148C=) c.111C= n.661C= n.628C= | |
| 19 | g.11105417C>G | CA404076929 | LDLR | c.769C>G (p.Pro257Ala) c.511C>G (p.Pro171Ala) c.765C>G c.314-1975C>G (n.314-1975C>G) c.388C>G (p.Pro130Ala) c.314-1148C>G (n.314-1148C>G) c.111C>G n.661C>G n.628C>G | |
| 19 | g.11105417C>T | CA404076926 | LDLR | c.769C>T (p.Pro257Ser) c.511C>T (p.Pro171Ser) c.765C>T c.314-1975C>T (n.314-1975C>T) c.388C>T (p.Pro130Ser) c.314-1148C>T (n.314-1148C>T) c.111C>T n.661C>T n.628C>T | |
| 19 | g.11105418C>A | CA404076930 | LDLR | c.770C>A (p.Pro257His) c.512C>A (p.Pro171His) c.766C>A c.314-1974C>A (n.314-1974C>A) c.389C>A (p.Pro130His) c.314-1147C>A (n.314-1147C>A) c.112C>A n.662C>A n.629C>A | |
| 19 | g.11105418C= | CA2322767448 | LDLR | c.770C= (p.Pro257=) c.512C= (p.Pro171=) c.766C= c.314-1974C= (n.314-1974C=) c.389C= (p.Pro130=) c.314-1147C= (n.314-1147C=) c.112C= n.662C= n.629C= | |
| 19 | g.11105418C>G | CA404076931 | LDLR | c.770C>G (p.Pro257Arg) c.512C>G (p.Pro171Arg) c.766C>G c.314-1974C>G (n.314-1974C>G) c.389C>G (p.Pro130Arg) c.314-1147C>G (n.314-1147C>G) c.112C>G n.662C>G n.629C>G | |
| 19 | g.11105418C>T | CA404076932 | LDLR | c.770C>T (p.Pro257Leu) c.512C>T (p.Pro171Leu) c.766C>T c.314-1974C>T (n.314-1974C>T) c.389C>T (p.Pro130Leu) c.314-1147C>T (n.314-1147C>T) c.112C>T n.662C>T n.629C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.11105419C>A | CA505743203 | LDLR | c.771C>A (p.Pro257=) c.513C>A (p.Pro171=) c.767C>A c.314-1973C>A (n.314-1973C>A) c.390C>A (p.Pro130=) c.314-1146C>A (n.314-1146C>A) c.113C>A n.663C>A n.630C>A | ClinVar |
| 19 | g.11105419C= | CA2322767449 | LDLR | c.771C= (p.Pro257=) c.513C= (p.Pro171=) c.767C= c.314-1973C= (n.314-1973C=) c.390C= (p.Pro130=) c.314-1146C= (n.314-1146C=) c.113C= n.663C= n.630C= | |
| 19 | g.11105419C>G | CA505743204 | LDLR | c.771C>G (p.Pro257=) c.513C>G (p.Pro171=) c.767C>G c.314-1973C>G (n.314-1973C>G) c.390C>G (p.Pro130=) c.314-1146C>G (n.314-1146C>G) c.113C>G n.663C>G n.630C>G | |
| 19 | g.11105419C>T | CA043796 | LDLR | c.771C>T (p.Pro257=) c.513C>T (p.Pro171=) c.767C>T c.314-1973C>T (n.314-1973C>T) c.390C>T (p.Pro130=) c.314-1146C>T (n.314-1146C>T) c.113C>T n.663C>T n.630C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.11105420G>A | CA10584957 | LDLR | c.772G>A (p.Asp258Asn) c.514G>A (p.Asp172Asn) c.768G>A c.314-1972G>A (n.314-1972G>A) c.391G>A (p.Asp131Asn) c.314-1145G>A (n.314-1145G>A) c.114G>A n.664G>A n.631G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.11105420G>C | CA10584958 | LDLR | c.772G>C (p.Asp258His) c.514G>C (p.Asp172His) c.768G>C c.314-1972G>C (n.314-1972G>C) c.391G>C (p.Asp131His) c.314-1145G>C (n.314-1145G>C) c.114G>C n.664G>C n.631G>C | ClinVar dbSNP gnomAD v4 |
| 19 | g.11105420G= | CA2322767450 | LDLR | c.772G= (p.Asp258=) c.514G= (p.Asp172=) c.768G= c.314-1972G= (n.314-1972G=) c.391G= (p.Asp131=) c.314-1145G= (n.314-1145G=) c.114G= n.664G= n.631G= | |
| 19 | g.11105420G>T | CA10584959 | LDLR | c.772G>T (p.Asp258Tyr) c.514G>T (p.Asp172Tyr) c.768G>T c.314-1972G>T (n.314-1972G>T) c.391G>T (p.Asp131Tyr) c.314-1145G>T (n.314-1145G>T) c.114G>T n.664G>T n.631G>T | ClinVar dbSNP gnomAD v4 |
| 19 | g.11105422_11105430dup | CA10584962 | LDLR | c.774_782dup (p.Asp261_Gly262insCysGluAsp) c.516_524dup (p.Asp175_Gly176insCysGluAsp) c.770_778dup c.314-1970_314-1962dup (n.314-1970_314-1962dup) c.393_401dup (p.Asp134_Gly135insCysGluAsp) c.314-1143_314-1135dup (n.314-1143_314-1135dup) c.116_124dup n.666_674dup n.633_641dup | ClinVar dbSNP |
| 19 | g.11105421A= | CA2322767451 | LDLR | c.773A= (p.Asp258=) c.515A= (p.Asp172=) c.769A= c.314-1971A= (n.314-1971A=) c.392A= (p.Asp131=) c.314-1144A= (n.314-1144A=) c.115A= n.665A= n.632A= | |
| 19 | g.11105421A>C | CA404076938 | LDLR | c.773A>C (p.Asp258Ala) c.515A>C (p.Asp172Ala) c.769A>C c.314-1971A>C (n.314-1971A>C) c.392A>C (p.Asp131Ala) c.314-1144A>C (n.314-1144A>C) c.115A>C n.665A>C n.632A>C | ClinVar |
| 19 | g.11105421A>G | CA10584960 | LDLR | c.773A>G (p.Asp258Gly) c.515A>G (p.Asp172Gly) c.769A>G c.314-1971A>G (n.314-1971A>G) c.392A>G (p.Asp131Gly) c.314-1144A>G (n.314-1144A>G) c.115A>G n.665A>G n.632A>G | ClinVar dbSNP |
| 19 | g.11105421A>T | CA404076942 | LDLR | c.773A>T (p.Asp258Val) c.515A>T (p.Asp172Val) c.769A>T c.314-1971A>T (n.314-1971A>T) c.392A>T (p.Asp131Val) c.314-1144A>T (n.314-1144A>T) c.115A>T n.665A>T n.632A>T | |
| 19 | g.11105421_11105422delinsTT | CA2580612602 | LDLR | c.773_774delinsTT (p.Asp258Val) c.515_516delinsTT (p.Asp172Val) c.769_770delinsTT c.314-1971_314-1970delinsTT (n.314-1971_314-1970delinsTT) c.392_393delinsTT (p.Asp131Val) c.314-1144_314-1143delinsTT (n.314-1144_314-1143delinsTT) c.115_116delinsTT n.665_666delinsTT n.632_633delinsTT | ClinVar |
| 19 | g.11105422C>A | CA404076945 | LDLR | c.774C>A (p.Asp258Glu) c.516C>A (p.Asp172Glu) c.770C>A c.314-1970C>A (n.314-1970C>A) c.393C>A (p.Asp131Glu) c.314-1143C>A (n.314-1143C>A) c.116C>A n.666C>A n.633C>A | |
| 19 | g.11105422C= | CA2322767452 | LDLR | c.774C= (p.Asp258=) c.516C= (p.Asp172=) c.770C= c.314-1970C= (n.314-1970C=) c.393C= (p.Asp131=) c.314-1143C= (n.314-1143C=) c.116C= n.666C= n.633C= |