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.11105224dup | CA10584851 | LDLR | c.576dup (p.Lys193GlnfsTer23) c.318dup (p.Lys107GlnfsTer23) c.572dup c.314-2168dup (n.314-2168dup) c.195dup (p.Lys66GlnfsTer23) c.314-1341dup (n.314-1341dup) n.468dup n.435dup | ClinVar dbSNP |
| 19 | g.11105224del | CA10576278 | LDLR | c.576del (p.Lys193ArgfsTer?) c.318del (p.Lys107ArgfsTer?) c.572del c.314-2168del (n.314-2168del) c.195del (p.Lys66ArgfsTer?) c.314-1341del (n.314-1341del) n.468del n.435del | ClinVar dbSNP gnomAD v4 |
| 19 | g.11105220_11105241delinsCCCCCAAGACGTGCTCCCAGGA | CA2322767270 | LDLR | c.572_593delinsCCCCCAAGACGTGCTCCCAGGA (p.Pro191=) c.314_335delinsCCCCCAAGACGTGCTCCCAGGA (p.Pro105=) c.568_589delinsCCCCCAAGACGTGCTCCCAGGA c.314-2172_314-2151delinsCCCCCAAGACGTGCTCCCAGGA (n.314-2172_314-2151delinsCCCCCAAGACGTGCTCCCAGGA) c.191_212delinsCCCCCAAGACGTGCTCCCAGGA (p.Ser64=) c.314-1345_314-1324delinsCCCCCAAGACGTGCTCCCAGGA (n.314-1345_314-1324delinsCCCCCAAGACGTGCTCCCAGGA) n.464_485delinsCCCCCAAGACGTGCTCCCAGGA n.431_452delinsCCCCCAAGACGTGCTCCCAGGA | |
| 19 | g.11105221_11105234delinsCCCCAAGACGTGCT | CA2322767272 | LDLR | c.573_586delinsCCCCAAGACGTGCT (p.Pro191=) c.315_328delinsCCCCAAGACGTGCT (p.Pro105=) c.569_582delinsCCCCAAGACGTGCT c.314-2171_314-2158delinsCCCCAAGACGTGCT (n.314-2171_314-2158delinsCCCCAAGACGTGCT) c.192_205delinsCCCCAAGACGTGCT (p.Ser64=) c.314-1344_314-1331delinsCCCCAAGACGTGCT (n.314-1344_314-1331delinsCCCCAAGACGTGCT) n.465_478delinsCCCCAAGACGTGCT n.432_445delinsCCCCAAGACGTGCT | |
| 19 | g.11105222_11105242del | CA10584850 | LDLR | c.574_594del (p.Pro192_Asp198del) c.316_336del (p.Pro106_Asp112del) c.570_590del c.314-2170_314-2150del (n.314-2170_314-2150del) c.193_213del (p.Pro65_Asp71del) c.314-1343_314-1323del (n.314-1343_314-1323del) n.466_486del n.433_453del | ClinVar dbSNP |
| 19 | g.11105226_11105238del | CA10584852 | LDLR | c.578_590del (p.Lys193ArgfsTer?) c.320_332del (p.Lys107ArgfsTer?) c.574_586del c.314-2166_314-2154del (n.314-2166_314-2154del) c.197_209del (p.Lys66ArgfsTer?) c.314-1339_314-1327del (n.314-1339_314-1327del) n.470_482del n.437_449del | ClinVar dbSNP |
| 19 | g.11105222_11105241delinsCCCAAGACGTGCTCCCAGGA | CA2322767273 | LDLR | c.574_593delinsCCCAAGACGTGCTCCCAGGA (p.Pro192=) c.316_335delinsCCCAAGACGTGCTCCCAGGA (p.Pro106=) c.570_589delinsCCCAAGACGTGCTCCCAGGA c.314-2170_314-2151delinsCCCAAGACGTGCTCCCAGGA (n.314-2170_314-2151delinsCCCAAGACGTGCTCCCAGGA) c.193_212delinsCCCAAGACGTGCTCCCAGGA (p.Pro65=) c.314-1343_314-1324delinsCCCAAGACGTGCTCCCAGGA (n.314-1343_314-1324delinsCCCAAGACGTGCTCCCAGGA) n.466_485delinsCCCAAGACGTGCTCCCAGGA n.433_452delinsCCCAAGACGTGCTCCCAGGA | |
| 19 | g.11105224_11105242del | CA645373222 | LDLR | c.576_594del (p.Lys193SerfsTer?) c.318_336del (p.Lys107SerfsTer?) c.572_590del c.314-2168_314-2150del (n.314-2168_314-2150del) c.195_213del (p.Lys66SerfsTer?) c.314-1341_314-1323del (n.314-1341_314-1323del) n.468_486del n.435_453del | ClinVar dbSNP |
| 19 | g.11105224C>A | CA505742132 | LDLR | c.576C>A (p.Pro192=) c.318C>A (p.Pro106=) c.572C>A c.314-2168C>A (n.314-2168C>A) c.195C>A (p.Pro65=) c.314-1341C>A (n.314-1341C>A) n.468C>A n.435C>A | |
| 19 | g.11105224C= | CA2322767275 | LDLR | c.576C= (p.Pro192=) c.318C= (p.Pro106=) c.572C= c.314-2168C= (n.314-2168C=) c.195C= (p.Pro65=) c.314-1341C= (n.314-1341C=) n.468C= n.435C= | |
| 19 | g.11105224C>G | CA505742130 | LDLR | c.576C>G (p.Pro192=) c.318C>G (p.Pro106=) c.572C>G c.314-2168C>G (n.314-2168C>G) c.195C>G (p.Pro65=) c.314-1341C>G (n.314-1341C>G) n.468C>G n.435C>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.11105224C>T | CA505742131 | LDLR | c.576C>T (p.Pro192=) c.318C>T (p.Pro106=) c.572C>T c.314-2168C>T (n.314-2168C>T) c.195C>T (p.Pro65=) c.314-1341C>T (n.314-1341C>T) n.468C>T n.435C>T | |
| 19 | g.11105225A>C | CA404076211 | LDLR | c.577A>C (p.Lys193Gln) c.319A>C (p.Lys107Gln) c.573A>C c.314-2167A>C (n.314-2167A>C) c.196A>C (p.Lys66Gln) c.314-1340A>C (n.314-1340A>C) n.469A>C n.436A>C | |
| 19 | g.11105225A>G | CA404076212 | LDLR | c.577A>G (p.Lys193Glu) c.319A>G (p.Lys107Glu) c.573A>G c.314-2167A>G (n.314-2167A>G) c.196A>G (p.Lys66Glu) c.314-1340A>G (n.314-1340A>G) n.469A>G n.436A>G | |
| 19 | g.11105225A>T | CA404076213 | LDLR | c.577A>T (p.Lys193Ter) c.319A>T (p.Lys107Ter) c.573A>T c.314-2167A>T (n.314-2167A>T) c.196A>T (p.Lys66Ter) c.314-1340A>T (n.314-1340A>T) n.469A>T n.436A>T | |
| 19 | g.11105225_11105226del | CA2573155725 | LDLR | c.577_578del (p.Lys193AspfsTer22) c.319_320del (p.Lys107AspfsTer22) c.573_574del c.314-2167_314-2166del (n.314-2167_314-2166del) c.196_197del (p.Lys66AspfsTer22) c.314-1340_314-1339del (n.314-1340_314-1339del) n.469_470del n.436_437del | dbSNP |
| 19 | g.11105226dup | CA10584853 | LDLR | c.578dup (p.Thr194AspfsTer22) c.320dup (p.Thr108AspfsTer22) c.574dup c.314-2166dup (n.314-2166dup) c.197dup (p.Thr67AspfsTer22) c.314-1339dup (n.314-1339dup) n.470dup n.437dup | ClinVar dbSNP |
| 19 | g.11105226del | CA2580096409 | LDLR | c.578del (p.Lys193ArgfsTer?) c.320del (p.Lys107ArgfsTer?) c.574del c.314-2166del (n.314-2166del) c.197del (p.Lys66ArgfsTer?) c.314-1339del (n.314-1339del) n.470del n.437del | ClinVar |
| 19 | g.11105226A>C | CA404076214 | LDLR | c.578A>C (p.Lys193Thr) c.320A>C (p.Lys107Thr) c.574A>C c.314-2166A>C (n.314-2166A>C) c.197A>C (p.Lys66Thr) c.314-1339A>C (n.314-1339A>C) n.470A>C n.437A>C | |
| 19 | g.11105226A>G | CA404076215 | LDLR | c.578A>G (p.Lys193Arg) c.320A>G (p.Lys107Arg) c.574A>G c.314-2166A>G (n.314-2166A>G) c.197A>G (p.Lys66Arg) c.314-1339A>G (n.314-1339A>G) n.470A>G n.437A>G | |
| 19 | g.11105226A>T | CA404076216 | LDLR | c.578A>T (p.Lys193Met) c.320A>T (p.Lys107Met) c.574A>T c.314-2166A>T (n.314-2166A>T) c.197A>T (p.Lys66Met) c.314-1339A>T (n.314-1339A>T) n.470A>T n.437A>T | |
| 19 | g.11105226_11105239delinsAGACGTGCTCCCAG | CA2322767276 | LDLR | c.578_591delinsAGACGTGCTCCCAG (p.Lys193=) c.320_333delinsAGACGTGCTCCCAG (p.Lys107=) c.574_587delinsAGACGTGCTCCCAG c.314-2166_314-2153delinsAGACGTGCTCCCAG (n.314-2166_314-2153delinsAGACGTGCTCCCAG) c.197_210delinsAGACGTGCTCCCAG (p.Lys66=) c.314-1339_314-1326delinsAGACGTGCTCCCAG (n.314-1339_314-1326delinsAGACGTGCTCCCAG) n.470_483delinsAGACGTGCTCCCAG n.437_450delinsAGACGTGCTCCCAG | |
| 19 | g.11105227G>A | CA505742133 | LDLR | c.579G>A (p.Lys193=) c.321G>A (p.Lys107=) c.575G>A c.314-2165G>A (n.314-2165G>A) c.198G>A (p.Lys66=) c.314-1338G>A (n.314-1338G>A) n.471G>A n.438G>A | |
| 19 | g.11105227G>C | CA404076217 | LDLR | c.579G>C (p.Lys193Asn) c.321G>C (p.Lys107Asn) c.575G>C c.314-2165G>C (n.314-2165G>C) c.198G>C (p.Lys66Asn) c.314-1338G>C (n.314-1338G>C) n.471G>C n.438G>C | |
| 19 | g.11105227G>T | CA404076218 | LDLR | c.579G>T (p.Lys193Asn) c.321G>T (p.Lys107Asn) c.575G>T c.314-2165G>T (n.314-2165G>T) c.198G>T (p.Lys66Asn) c.314-1338G>T (n.314-1338G>T) n.471G>T n.438G>T | gnomAD v4 |
| 19 | g.11105231_11105243del | CA10584856 | LDLR | c.583_595del (p.Cys195SerfsTer?) c.325_337del (p.Cys109SerfsTer?) c.579_591del c.314-2161_314-2149del (n.314-2161_314-2149del) c.202_214del (p.Cys68SerfsTer?) c.314-1334_314-1322del (n.314-1334_314-1322del) n.475_487del n.442_454del | ClinVar dbSNP |
| 19 | g.11105228A>C | CA404076219 | LDLR | c.580A>C (p.Thr194Pro) c.322A>C (p.Thr108Pro) c.576A>C c.314-2164A>C (n.314-2164A>C) c.199A>C (p.Thr67Pro) c.314-1337A>C (n.314-1337A>C) n.472A>C n.439A>C | |
| 19 | g.11105228A>G | CA404076220 | LDLR | c.580A>G (p.Thr194Ala) c.322A>G (p.Thr108Ala) c.576A>G c.314-2164A>G (n.314-2164A>G) c.199A>G (p.Thr67Ala) c.314-1337A>G (n.314-1337A>G) n.472A>G n.439A>G | |
| 19 | g.11105228A>T | CA404076221 | LDLR | c.580A>T (p.Thr194Ser) c.322A>T (p.Thr108Ser) c.576A>T c.314-2164A>T (n.314-2164A>T) c.199A>T (p.Thr67Ser) c.314-1337A>T (n.314-1337A>T) n.472A>T n.439A>T | |
| 19 | g.11105229C>A | CA404076223 | LDLR | c.581C>A (p.Thr194Lys) c.323C>A (p.Thr108Lys) c.577C>A c.314-2163C>A (n.314-2163C>A) c.200C>A (p.Thr67Lys) c.314-1336C>A (n.314-1336C>A) n.473C>A n.440C>A | ClinVar dbSNP |
| 19 | g.11105229C= | CA2322767277 | LDLR | c.581C= (p.Thr194=) c.323C= (p.Thr108=) c.577C= c.314-2163C= (n.314-2163C=) c.200C= (p.Thr67=) c.314-1336C= (n.314-1336C=) n.473C= n.440C= | |
| 19 | g.11105229C>G | CA404076222 | LDLR | c.581C>G (p.Thr194Arg) c.323C>G (p.Thr108Arg) c.577C>G c.314-2163C>G (n.314-2163C>G) c.200C>G (p.Thr67Arg) c.314-1336C>G (n.314-1336C>G) n.473C>G n.440C>G | |
| 19 | g.11105229C>T | CA043057 | LDLR | c.581C>T (p.Thr194Met) c.323C>T (p.Thr108Met) c.577C>T c.314-2163C>T (n.314-2163C>T) c.200C>T (p.Thr67Met) c.314-1336C>T (n.314-1336C>T) n.473C>T n.440C>T | ClinVar dbSNP ExAC gnomAD v4 COSMIC |
| 19 | g.11105229_11105230insCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTT | CA2582473420 | LDLR | c.581_582insCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTT (p.Cys195GlyfsTer8) c.323_324insCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTT (p.Cys109GlyfsTer8) c.577_578insCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTT c.314-2163_314-2162insCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTT (n.314-2163_314-2162insCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTT) c.200_201insCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTT (p.Cys68GlyfsTer8) c.314-1336_314-1335insCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTT (n.314-1336_314-1335insCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTT) n.473_474insCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTT n.440_441insCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTT | gnomAD v4 |
| 19 | g.11105230G>A | CA043072 | LDLR | c.582G>A (p.Thr194=) c.324G>A (p.Thr108=) c.578G>A c.314-2162G>A (n.314-2162G>A) c.201G>A (p.Thr67=) c.314-1335G>A (n.314-1335G>A) n.474G>A n.441G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.11105230G>C | CA043084 | LDLR | c.582G>C (p.Thr194=) c.324G>C (p.Thr108=) c.578G>C c.314-2162G>C (n.314-2162G>C) c.201G>C (p.Thr67=) c.314-1335G>C (n.314-1335G>C) n.474G>C n.441G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.11105230G= | CA2322767278 | LDLR | c.582G= (p.Thr194=) c.324G= (p.Thr108=) c.578G= c.314-2162G= (n.314-2162G=) c.201G= (p.Thr67=) c.314-1335G= (n.314-1335G=) n.474G= n.441G= |