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.11105492_11105530del | CA2573050576 | LDLR | c.844_882del (p.Pro282_Glu294del) c.586_624del (p.Pro196_Glu208del) c.840_878del c.314-1900_314-1862del (n.314-1900_314-1862del) c.463_501del (p.Pro155_Glu167del) c.314-1073_314-1035del (n.314-1073_314-1035del) c.186_224del n.736_774del n.703_741del | |
| 19 | g.11105516T>A | CA404077803 | LDLR | c.868T>A (p.Cys290Ser) c.610T>A (p.Cys204Ser) c.864T>A c.314-1876T>A (n.314-1876T>A) c.487T>A (p.Cys163Ser) c.314-1049T>A (n.314-1049T>A) c.210T>A n.760T>A n.727T>A | |
| 19 | g.11105516T>C | CA404077804 | LDLR | c.868T>C (p.Cys290Arg) c.610T>C (p.Cys204Arg) c.864T>C c.314-1876T>C (n.314-1876T>C) c.487T>C (p.Cys163Arg) c.314-1049T>C (n.314-1049T>C) c.210T>C n.760T>C n.727T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.11105516T>G | CA16602302 | LDLR | c.868T>G (p.Cys290Gly) c.610T>G (p.Cys204Gly) c.864T>G c.314-1876T>G (n.314-1876T>G) c.487T>G (p.Cys163Gly) c.314-1049T>G (n.314-1049T>G) c.210T>G n.760T>G n.727T>G | ClinVar dbSNP |
| 19 | g.11105516T= | CA2322767535 | LDLR | c.868T= (p.Cys290=) c.610T= (p.Cys204=) c.864T= c.314-1876T= (n.314-1876T=) c.487T= (p.Cys163=) c.314-1049T= (n.314-1049T=) c.210T= n.760T= n.727T= | |
| 19 | g.11105517G>A | CA10585010 | LDLR | c.869G>A (p.Cys290Tyr) c.611G>A (p.Cys204Tyr) c.865G>A c.314-1875G>A (n.314-1875G>A) c.488G>A (p.Cys163Tyr) c.314-1048G>A (n.314-1048G>A) c.211G>A n.761G>A n.728G>A | ClinVar dbSNP |
| 19 | g.11105517G>C | CA10585011 | LDLR | c.869G>C (p.Cys290Ser) c.611G>C (p.Cys204Ser) c.865G>C c.314-1875G>C (n.314-1875G>C) c.488G>C (p.Cys163Ser) c.314-1048G>C (n.314-1048G>C) c.211G>C n.761G>C n.728G>C | ClinVar dbSNP |
| 19 | g.11105517G= | CA2322767536 | LDLR | c.869G= (p.Cys290=) c.611G= (p.Cys204=) c.865G= c.314-1875G= (n.314-1875G=) c.488G= (p.Cys163=) c.314-1048G= (n.314-1048G=) c.211G= n.761G= n.728G= | |
| 19 | g.11105517G>T | CA10585012 | LDLR | c.869G>T (p.Cys290Phe) c.611G>T (p.Cys204Phe) c.865G>T c.314-1875G>T (n.314-1875G>T) c.488G>T (p.Cys163Phe) c.314-1048G>T (n.314-1048G>T) c.211G>T n.761G>T n.728G>T | ClinVar dbSNP |
| 19 | g.11105518C>A | CA404077821 | LDLR | c.870C>A (p.Cys290Ter) c.612C>A (p.Cys204Ter) c.866C>A c.314-1874C>A (n.314-1874C>A) c.489C>A (p.Cys163Ter) c.314-1047C>A (n.314-1047C>A) c.212C>A n.762C>A n.729C>A | ClinVar dbSNP |
| 19 | g.11105518C= | CA2322767537 | LDLR | c.870C= (p.Cys290=) c.612C= (p.Cys204=) c.866C= c.314-1874C= (n.314-1874C=) c.489C= (p.Cys163=) c.314-1047C= (n.314-1047C=) c.212C= n.762C= n.729C= | |
| 19 | g.11105518C>G | CA404077818 | LDLR | c.870C>G (p.Cys290Trp) c.612C>G (p.Cys204Trp) c.866C>G c.314-1874C>G (n.314-1874C>G) c.489C>G (p.Cys163Trp) c.314-1047C>G (n.314-1047C>G) c.212C>G n.762C>G n.729C>G | |
| 19 | g.11105518C>T | CA505743455 | LDLR | c.870C>T (p.Cys290=) c.612C>T (p.Cys204=) c.866C>T c.314-1874C>T (n.314-1874C>T) c.489C>T (p.Cys163=) c.314-1047C>T (n.314-1047C>T) c.212C>T n.762C>T n.729C>T | |
| 19 | g.11105519C>A | CA404077824 | LDLR | c.871C>A (p.Leu291Ile) c.613C>A (p.Leu205Ile) c.867C>A c.314-1873C>A (n.314-1873C>A) c.490C>A (p.Leu164Ile) c.314-1046C>A (n.314-1046C>A) c.213C>A n.763C>A n.730C>A | |
| 19 | g.11105519C= | CA2322767538 | LDLR | c.871C= (p.Leu291=) c.613C= (p.Leu205=) c.867C= c.314-1873C= (n.314-1873C=) c.490C= (p.Leu164=) c.314-1046C= (n.314-1046C=) c.213C= n.763C= n.730C= | |
| 19 | g.11105519C>G | CA404077826 | LDLR | c.871C>G (p.Leu291Val) c.613C>G (p.Leu205Val) c.867C>G c.314-1873C>G (n.314-1873C>G) c.490C>G (p.Leu164Val) c.314-1046C>G (n.314-1046C>G) c.213C>G n.763C>G n.730C>G | ClinVar dbSNP |
| 19 | g.11105519C>T | CA505743457 | LDLR | c.871C>T (p.Leu291=) c.613C>T (p.Leu205=) c.867C>T c.314-1873C>T (n.314-1873C>T) c.490C>T (p.Leu164=) c.314-1046C>T (n.314-1046C>T) c.213C>T n.763C>T n.730C>T | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.11105520T>A | CA404077832 | LDLR | c.872T>A (p.Leu291Gln) c.614T>A (p.Leu205Gln) c.868T>A c.314-1872T>A (n.314-1872T>A) c.491T>A (p.Leu164Gln) c.314-1045T>A (n.314-1045T>A) c.214T>A n.764T>A n.731T>A | gnomAD v4 |
| 19 | g.11105520T>C | CA404077837 | LDLR | c.872T>C (p.Leu291Pro) c.614T>C (p.Leu205Pro) c.868T>C c.314-1872T>C (n.314-1872T>C) c.491T>C (p.Leu164Pro) c.314-1045T>C (n.314-1045T>C) c.214T>C n.764T>C n.731T>C | |
| 19 | g.11105520T>G | CA404077840 | LDLR | c.872T>G (p.Leu291Arg) c.614T>G (p.Leu205Arg) c.868T>G c.314-1872T>G (n.314-1872T>G) c.491T>G (p.Leu164Arg) c.314-1045T>G (n.314-1045T>G) c.214T>G n.764T>G n.731T>G | |
| 19 | g.11105520T= | CA2322767539 | LDLR | c.872T= (p.Leu291=) c.614T= (p.Leu205=) c.868T= c.314-1872T= (n.314-1872T=) c.491T= (p.Leu164=) c.314-1045T= (n.314-1045T=) c.214T= n.764T= n.731T= | |
| 19 | g.11105521A>C | CA505743458 | LDLR | c.873A>C (p.Leu291=) c.615A>C (p.Leu205=) c.869A>C c.314-1871A>C (n.314-1871A>C) c.492A>C (p.Leu164=) c.314-1044A>C (n.314-1044A>C) c.215A>C n.765A>C n.732A>C | |
| 19 | g.11105521A>G | CA505743459 | LDLR | c.873A>G (p.Leu291=) c.615A>G (p.Leu205=) c.869A>G c.314-1871A>G (n.314-1871A>G) c.492A>G (p.Leu164=) c.314-1044A>G (n.314-1044A>G) c.215A>G n.765A>G n.732A>G | |
| 19 | g.11105521A>T | CA505743460 | LDLR | c.873A>T (p.Leu291=) c.615A>T (p.Leu205=) c.869A>T c.314-1871A>T (n.314-1871A>T) c.492A>T (p.Leu164=) c.314-1044A>T (n.314-1044A>T) c.215A>T n.765A>T n.732A>T | |
| 19 | g.11105522dup | CA10585013 | LDLR | c.874dup (p.Ser292LysfsTer12) c.616dup (p.Ser206LysfsTer12) c.870dup c.314-1870dup (n.314-1870dup) c.493dup (p.Ser165LysfsTer12) c.314-1043dup (n.314-1043dup) c.216dup n.766dup n.733dup | ClinVar dbSNP gnomAD v4 |
| 19 | g.11105522del | CA2573050577 | LDLR | c.874del (p.Ser292ValfsTer?) c.616del (p.Ser206ValfsTer?) c.870del c.314-1870del (n.314-1870del) c.493del (p.Ser165ValfsTer?) c.314-1043del (n.314-1043del) c.216del n.766del n.733del | |
| 19 | g.11105521_11105542delinsAAGTGGCGAGTGCATCCACTCC | CA2322767540 | LDLR | c.873_894delinsAAGTGGCGAGTGCATCCACTCC (p.Leu291=) c.615_636delinsAAGTGGCGAGTGCATCCACTCC (p.Leu205=) c.869_890delinsAAGTGGCGAGTGCATCCACTCC c.314-1871_314-1850delinsAAGTGGCGAGTGCATCCACTCC (n.314-1871_314-1850delinsAAGTGGCGAGTGCATCCACTCC) c.492_513delinsAAGTGGCGAGTGCATCCACTCC (p.Leu164=) c.314-1044_314-1023delinsAAGTGGCGAGTGCATCCACTCC (n.314-1044_314-1023delinsAAGTGGCGAGTGCATCCACTCC) c.215_236delinsAAGTGGCGAGTGCATCCACTCC n.765_786delinsAAGTGGCGAGTGCATCCACTCC n.732_753delinsAAGTGGCGAGTGCATCCACTCC | |
| 19 | g.11105522A= | CA2322767542 | LDLR | c.874A= (p.Ser292=) c.616A= (p.Ser206=) c.870A= c.314-1870A= (n.314-1870A=) c.493A= (p.Ser165=) c.314-1043A= (n.314-1043A=) c.216A= n.766A= n.733A= | |
| 19 | g.11105522A>C | CA404077844 | LDLR | c.874A>C (p.Ser292Arg) c.616A>C (p.Ser206Arg) c.870A>C c.314-1870A>C (n.314-1870A>C) c.493A>C (p.Ser165Arg) c.314-1043A>C (n.314-1043A>C) c.216A>C n.766A>C n.733A>C | ClinVar dbSNP |
| 19 | g.11105522A>G | CA404077847 | LDLR | c.874A>G (p.Ser292Gly) c.616A>G (p.Ser206Gly) c.870A>G c.314-1870A>G (n.314-1870A>G) c.493A>G (p.Ser165Gly) c.314-1043A>G (n.314-1043A>G) c.216A>G n.766A>G n.733A>G | |
| 19 | g.11105522A>T | CA404077848 | LDLR | c.874A>T (p.Ser292Cys) c.616A>T (p.Ser206Cys) c.870A>T c.314-1870A>T (n.314-1870A>T) c.493A>T (p.Ser165Cys) c.314-1043A>T (n.314-1043A>T) c.216A>T n.766A>T n.733A>T | |
| 19 | g.11105522_11105523delinsAG | CA2322767541 | LDLR | c.874_875delinsAG (p.Ser292=) c.616_617delinsAG (p.Ser206=) c.870_871delinsAG c.314-1870_314-1869delinsAG (n.314-1870_314-1869delinsAG) c.493_494delinsAG (p.Ser165=) c.314-1043_314-1042delinsAG (n.314-1043_314-1042delinsAG) c.216_217delinsAG n.766_767delinsAG n.733_734delinsAG | |
| 19 | g.11105526_11105532del | CA2497030124 | LDLR | c.878_884del (p.Gly293AlafsTer?) c.620_626del (p.Gly207AlafsTer?) c.874_880del c.314-1866_314-1860del (n.314-1866_314-1860del) c.497_503del (p.Gly166AlafsTer?) c.314-1039_314-1033del (n.314-1039_314-1033del) c.220_226del n.770_776del n.737_743del | ClinVar dbSNP |
| 19 | g.11105524_11105544del | CA10588893 | LDLR | c.876_896del (p.Gly293_Ser299del) c.618_638del (p.Gly207_Ser213del) c.872_892del c.314-1868_314-1848del (n.314-1868_314-1848del) c.495_515del (p.Gly166_Ser172del) c.314-1041_314-1021del (n.314-1041_314-1021del) c.218_238del n.768_788del n.735_755del | ClinVar dbSNP |
| 19 | g.11105523del | CA10585014 | LDLR | c.875del (p.Ser292MetfsTer?) c.617del (p.Ser206MetfsTer?) c.871del c.314-1869del (n.314-1869del) c.494del (p.Ser165MetfsTer?) c.314-1042del (n.314-1042del) c.217del n.767del n.734del | ClinVar dbSNP |
| 19 | g.11105523G>A | CA404077856 | LDLR | c.875G>A (p.Ser292Asn) c.617G>A (p.Ser206Asn) c.871G>A c.314-1869G>A (n.314-1869G>A) c.494G>A (p.Ser165Asn) c.314-1042G>A (n.314-1042G>A) c.217G>A n.767G>A n.734G>A |