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.11105423_11105437delinsTGCGAAGATGGCTCG | CA2322767453 | LDLR | c.775_789delinsTGCGAAGATGGCTCG (p.Cys259=) c.517_531delinsTGCGAAGATGGCTCG (p.Cys173=) c.771_785delinsTGCGAAGATGGCTCG c.314-1969_314-1955delinsTGCGAAGATGGCTCG (n.314-1969_314-1955delinsTGCGAAGATGGCTCG) c.394_408delinsTGCGAAGATGGCTCG (p.Cys132=) c.314-1142_314-1128delinsTGCGAAGATGGCTCG (n.314-1142_314-1128delinsTGCGAAGATGGCTCG) c.117_131delinsTGCGAAGATGGCTCG n.667_681delinsTGCGAAGATGGCTCG n.634_648delinsTGCGAAGATGGCTCG | |
| 19 | g.11105425_11105438del | CA645373225 | LDLR | c.777_790del (p.Cys259Ter) c.519_532del (p.Cys173Ter) c.773_786del c.314-1967_314-1954del (n.314-1967_314-1954del) c.396_409del (p.Cys132Ter) c.314-1140_314-1127del (n.314-1140_314-1127del) c.119_132del n.669_682del n.636_649del | ClinVar dbSNP |
| 19 | g.11105428_11105440delinsAGATGGCTCGGAT | CA2322767459 | LDLR | c.780_792delinsAGATGGCTCGGAT (p.Glu260=) c.522_534delinsAGATGGCTCGGAT (p.Glu174=) c.776_788delinsAGATGGCTCGGAT c.314-1964_314-1952delinsAGATGGCTCGGAT (n.314-1964_314-1952delinsAGATGGCTCGGAT) c.399_411delinsAGATGGCTCGGAT (p.Glu133=) c.314-1137_314-1125delinsAGATGGCTCGGAT (n.314-1137_314-1125delinsAGATGGCTCGGAT) c.122_134delinsAGATGGCTCGGAT n.672_684delinsAGATGGCTCGGAT n.639_651delinsAGATGGCTCGGAT | |
| 19 | g.11105431_11105442del | CA10584970 | LDLR | c.783_794del (p.Asp261_Asp264del) c.525_536del (p.Asp175_Asp178del) c.779_790del c.314-1961_314-1950del (n.314-1961_314-1950del) c.402_413del (p.Asp134_Asp137del) c.314-1134_314-1123del (n.314-1134_314-1123del) c.125_136del n.675_686del n.642_653del | ClinVar dbSNP |
| 19 | g.11105432_11105439dup | CA10584971 | LDLR | c.784_791dup (p.Asp264GlufsTer31) c.526_533dup (p.Asp178GlufsTer31) c.780_787dup c.314-1960_314-1953dup (n.314-1960_314-1953dup) c.403_410dup (p.Asp137GlufsTer31) c.314-1133_314-1126dup (n.314-1133_314-1126dup) c.126_133dup n.676_683dup n.643_650dup | ClinVar dbSNP gnomAD v4 |
| 19 | g.11105435T>A | CA404077055 | LDLR | c.787T>A (p.Ser263Thr) c.529T>A (p.Ser177Thr) c.783T>A c.314-1957T>A (n.314-1957T>A) c.406T>A (p.Ser136Thr) c.314-1130T>A (n.314-1130T>A) c.129T>A n.679T>A n.646T>A | |
| 19 | g.11105435T>C | CA16609805 | LDLR | c.787T>C (p.Ser263Pro) c.529T>C (p.Ser177Pro) c.783T>C c.314-1957T>C (n.314-1957T>C) c.406T>C (p.Ser136Pro) c.314-1130T>C (n.314-1130T>C) c.129T>C n.679T>C n.646T>C | ClinVar dbSNP |
| 19 | g.11105435T>G | CA404077058 | LDLR | c.787T>G (p.Ser263Ala) c.529T>G (p.Ser177Ala) c.783T>G c.314-1957T>G (n.314-1957T>G) c.406T>G (p.Ser136Ala) c.314-1130T>G (n.314-1130T>G) c.129T>G n.679T>G n.646T>G | |
| 19 | g.11105435T= | CA2322767464 | LDLR | c.787T= (p.Ser263=) c.529T= (p.Ser177=) c.783T= c.314-1957T= (n.314-1957T=) c.406T= (p.Ser136=) c.314-1130T= (n.314-1130T=) c.129T= n.679T= n.646T= | |
| 19 | g.11105436C>A | CA404077059 | LDLR | c.788C>A (p.Ser263Ter) c.530C>A (p.Ser177Ter) c.784C>A c.314-1956C>A (n.314-1956C>A) c.407C>A (p.Ser136Ter) c.314-1129C>A (n.314-1129C>A) c.130C>A n.680C>A n.647C>A | |
| 19 | g.11105436C= | CA2322767465 | LDLR | c.788C= (p.Ser263=) c.530C= (p.Ser177=) c.784C= c.314-1956C= (n.314-1956C=) c.407C= (p.Ser136=) c.314-1129C= (n.314-1129C=) c.130C= n.680C= n.647C= | |
| 19 | g.11105436C>G | CA404077062 | LDLR | c.788C>G (p.Ser263Trp) c.530C>G (p.Ser177Trp) c.784C>G c.314-1956C>G (n.314-1956C>G) c.407C>G (p.Ser136Trp) c.314-1129C>G (n.314-1129C>G) c.130C>G n.680C>G n.647C>G | ClinVar |
| 19 | g.11105436C>T | CA023715 | LDLR | c.788C>T (p.Ser263Leu) c.530C>T (p.Ser177Leu) c.784C>T c.314-1956C>T (n.314-1956C>T) c.407C>T (p.Ser136Leu) c.314-1129C>T (n.314-1129C>T) c.130C>T n.680C>T n.647C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.11105436_11105437delinsCG | CA2322767466 | LDLR | c.788_789delinsCG (p.Ser263=) c.530_531delinsCG (p.Ser177=) c.784_785delinsCG c.314-1956_314-1955delinsCG (n.314-1956_314-1955delinsCG) c.407_408delinsCG (p.Ser136=) c.314-1129_314-1128delinsCG (n.314-1129_314-1128delinsCG) c.130_131delinsCG n.680_681delinsCG n.647_648delinsCG | |
| 19 | g.11105437G>A | CA043856 | LDLR | c.789G>A (p.Ser263=) c.531G>A (p.Ser177=) c.785G>A c.314-1955G>A (n.314-1955G>A) c.408G>A (p.Ser136=) c.314-1128G>A (n.314-1128G>A) c.131G>A n.681G>A n.648G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.11105437G>C | CA505743235 | LDLR | c.789G>C (p.Ser263=) c.531G>C (p.Ser177=) c.785G>C c.314-1955G>C (n.314-1955G>C) c.408G>C (p.Ser136=) c.314-1128G>C (n.314-1128G>C) c.131G>C n.681G>C n.648G>C | |
| 19 | g.11105437G= | CA2322767467 | LDLR | c.789G= (p.Ser263=) c.531G= (p.Ser177=) c.785G= c.314-1955G= (n.314-1955G=) c.408G= (p.Ser136=) c.314-1128G= (n.314-1128G=) c.131G= n.681G= n.648G= | |
| 19 | g.11105437G>T | CA505743236 | LDLR | c.789G>T (p.Ser263=) c.531G>T (p.Ser177=) c.785G>T c.314-1955G>T (n.314-1955G>T) c.408G>T (p.Ser136=) c.314-1128G>T (n.314-1128G>T) c.131G>T n.681G>T n.648G>T | |
| 19 | g.11105438del | CA645509258 | LDLR | c.790del (p.Asp264MetfsTer28) c.532del (p.Asp178MetfsTer28) c.786del c.314-1954del (n.314-1954del) c.409del (p.Asp137MetfsTer28) c.314-1127del (n.314-1127del) c.132del n.682del n.649del | ClinVar dbSNP |
| 19 | g.11105438G>A | CA10584973 | LDLR | c.790G>A (p.Asp264Asn) c.532G>A (p.Asp178Asn) c.786G>A c.314-1954G>A (n.314-1954G>A) c.409G>A (p.Asp137Asn) c.314-1127G>A (n.314-1127G>A) c.132G>A n.682G>A n.649G>A | ClinVar dbSNP COSMIC |
| 19 | g.11105438G>C | CA10584974 | LDLR | c.790G>C (p.Asp264His) c.532G>C (p.Asp178His) c.786G>C c.314-1954G>C (n.314-1954G>C) c.409G>C (p.Asp137His) c.314-1127G>C (n.314-1127G>C) c.132G>C n.682G>C n.649G>C | ClinVar dbSNP |
| 19 | g.11105438G= | CA2322767468 | LDLR | c.790G= (p.Asp264=) c.532G= (p.Asp178=) c.786G= c.314-1954G= (n.314-1954G=) c.409G= (p.Asp137=) c.314-1127G= (n.314-1127G=) c.132G= n.682G= n.649G= | |
| 19 | g.11105438G>T | CA10584975 | LDLR | c.790G>T (p.Asp264Tyr) c.532G>T (p.Asp178Tyr) c.786G>T c.314-1954G>T (n.314-1954G>T) c.409G>T (p.Asp137Tyr) c.314-1127G>T (n.314-1127G>T) c.132G>T n.682G>T n.649G>T | ClinVar dbSNP |
| 19 | g.11105438_11105439insT | CA10584976 | LDLR | c.790_791insT (p.Asp264ValfsTer2) c.532_533insT (p.Asp178ValfsTer2) c.786_787insT c.314-1954_314-1953insT (n.314-1954_314-1953insT) c.409_410insT (p.Asp137ValfsTer2) c.314-1127_314-1126insT (n.314-1127_314-1126insT) c.132_133insT n.682_683insT n.649_650insT | ClinVar dbSNP |
| 19 | g.11105439A= | CA2322767469 | LDLR | c.791A= (p.Asp264=) c.533A= (p.Asp178=) c.787A= c.314-1953A= (n.314-1953A=) c.410A= (p.Asp137=) c.314-1126A= (n.314-1126A=) c.133A= n.683A= n.650A= | |
| 19 | g.11105439A>C | CA404077079 | LDLR | c.791A>C (p.Asp264Ala) c.533A>C (p.Asp178Ala) c.787A>C c.314-1953A>C (n.314-1953A>C) c.410A>C (p.Asp137Ala) c.314-1126A>C (n.314-1126A>C) c.133A>C n.683A>C n.650A>C | |
| 19 | g.11105439A>G | CA10584977 | LDLR | c.791A>G (p.Asp264Gly) c.533A>G (p.Asp178Gly) c.787A>G c.314-1953A>G (n.314-1953A>G) c.410A>G (p.Asp137Gly) c.314-1126A>G (n.314-1126A>G) c.133A>G n.683A>G n.650A>G | ClinVar dbSNP |
| 19 | g.11105439A>T | CA10576284 | LDLR | c.791A>T (p.Asp264Val) c.533A>T (p.Asp178Val) c.787A>T c.314-1953A>T (n.314-1953A>T) c.410A>T (p.Asp137Val) c.314-1126A>T (n.314-1126A>T) c.133A>T n.683A>T n.650A>T | ClinVar dbSNP gnomAD v4 |
| 19 | g.11105440T>A | CA404077082 | LDLR | c.792T>A (p.Asp264Glu) c.534T>A (p.Asp178Glu) c.788T>A c.314-1952T>A (n.314-1952T>A) c.411T>A (p.Asp137Glu) c.314-1125T>A (n.314-1125T>A) c.134T>A n.684T>A n.651T>A | |
| 19 | g.11105440T>C | CA505743240 | LDLR | c.792T>C (p.Asp264=) c.534T>C (p.Asp178=) c.788T>C c.314-1952T>C (n.314-1952T>C) c.411T>C (p.Asp137=) c.314-1125T>C (n.314-1125T>C) c.134T>C n.684T>C n.651T>C | |
| 19 | g.11105440T>G | CA10584978 | LDLR | c.792T>G (p.Asp264Glu) c.534T>G (p.Asp178Glu) c.788T>G c.314-1952T>G (n.314-1952T>G) c.411T>G (p.Asp137Glu) c.314-1125T>G (n.314-1125T>G) c.134T>G n.684T>G n.651T>G | ClinVar dbSNP |
| 19 | g.11105440T= | CA2322767470 | LDLR | c.792T= (p.Asp264=) c.534T= (p.Asp178=) c.788T= c.314-1952T= (n.314-1952T=) c.411T= (p.Asp137=) c.314-1125T= (n.314-1125T=) c.134T= n.684T= n.651T= | |
| 19 | g.11105441G>A | CA10584979 | LDLR | c.793G>A (p.Glu265Lys) c.535G>A (p.Glu179Lys) c.789G>A c.314-1951G>A (n.314-1951G>A) c.412G>A (p.Glu138Lys) c.314-1124G>A (n.314-1124G>A) c.135G>A n.685G>A n.652G>A | ClinVar dbSNP |
| 19 | g.11105441G>C | CA404077089 | LDLR | c.793G>C (p.Glu265Gln) c.535G>C (p.Glu179Gln) c.789G>C c.314-1951G>C (n.314-1951G>C) c.412G>C (p.Glu138Gln) c.314-1124G>C (n.314-1124G>C) c.135G>C n.685G>C n.652G>C | |
| 19 | g.11105441G= | CA2322767471 | LDLR | c.793G= (p.Glu265=) c.535G= (p.Glu179=) c.789G= c.314-1951G= (n.314-1951G=) c.412G= (p.Glu138=) c.314-1124G= (n.314-1124G=) c.135G= n.685G= n.652G= | |
| 19 | g.11105441G>T | CA10584980 | LDLR | c.793G>T (p.Glu265Ter) c.535G>T (p.Glu179Ter) c.789G>T c.314-1951G>T (n.314-1951G>T) c.412G>T (p.Glu138Ter) c.314-1124G>T (n.314-1124G>T) c.135G>T n.685G>T n.652G>T | ClinVar dbSNP gnomAD v4 |