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.11106498_11114133del | CA404079331 | LDLR | c.953-67_1844+371del c.695-67_1586+371del c.695-67_1466+371del c.949-67_1840+371del c.314-894_1082+371del c.572-67_1463+371del c.314-67_1205+371del n.845-67_1736+371del n.812-67_1703+371del | ClinVar |
| 19 | g.11111514_11116998del | CA10585283 | LDLR | c.1319_2103del c.1061_1705+786del c.941_1725del c.1061_1845del c.1315_2099del c.557_1341del c.938_1722del c.680_1464del n.1211_1855+786del n.1178_1962del n.1178_1822+786del | |
| 19 | g.11113244_11120565del | CA2695195458 | LDLR | c.1445-34_2398+43del c.1187-34_*209+43del c.1067-34_2020+43del c.1187-34_2140+43del c.1441-34_2394+43del c.683-34_1636+43del c.1064-34_2017+43del c.806-34_1606+332del c.806-34_1759+43del n.1337-34_2150+43del n.1304-34_2300del n.1304-34_2117+43del | |
| 19 | g.11113268_11113363dup | CA16609813 | LDLR | c.1445-10_1530dup c.1187-10_1272dup c.1067-10_1152dup c.1441-10_1526dup c.683-10_768dup c.1064-10_1149dup c.806-10_891dup n.186-10_271dup c.667-10_752dup n.1337-10_1422dup n.1304-10_1389dup | ClinVar dbSNP |
| 19 | g.11113289_11113307del | CA2695238665 | LDLR | c.1456_1474del (p.Tyr486GlyfsTer7) c.1198_1216del (p.Tyr400GlyfsTer7) c.1078_1096del (p.Tyr360GlyfsTer7) c.1452_1470del c.694_712del (p.Tyr232GlyfsTer7) c.1075_1093del (p.Tyr359GlyfsTer7) c.817_835del (p.Tyr273GlyfsTer7) n.197_215del c.678_696del n.1348_1366del n.1315_1333del | |
| 19 | g.11113288_11123238del | CA10585350 | LDLR | c.1455_2463del c.1197_*274del c.1077_2085del c.1197_2205del c.1451_2459del c.693_1701del c.1074_2082del c.816_1671del c.816_1824del n.1347_2215del n.1314_2539del n.1314_2182del | ClinVar |
| 19 | g.11113290_11113298del | CA10585351 | LDLR | c.1457_1465del (p.Tyr486_Phe488del) c.1199_1207del (p.Tyr400_Phe402del) c.1079_1087del (p.Tyr360_Phe362del) c.1453_1461del c.695_703del (p.Tyr232_Phe234del) c.1076_1084del (p.Tyr359_Phe361del) c.818_826del (p.Tyr273_Phe275del) n.198_206del c.679_687del n.1349_1357del n.1316_1324del | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.11113298_11113300del | CA10585356 | LDLR | c.1465_1467del (p.Phe489del) c.1207_1209del (p.Phe403del) c.1087_1089del (p.Phe363del) c.1461_1463del c.703_705del (p.Phe235del) c.1084_1086del (p.Phe362del) c.826_828del (p.Phe276del) n.206_208del c.687_689del n.1357_1359del n.1324_1326del | ClinVar dbSNP gnomAD v4 |
| 19 | g.11113297_11113298del | CA10585354 | LDLR | c.1464_1465del (p.Phe489HisfsTer?) c.1206_1207del (p.Phe403HisfsTer?) c.1086_1087del (p.Phe363HisfsTer?) c.1460_1461del c.702_703del (p.Phe235HisfsTer?) c.1083_1084del (p.Phe362HisfsTer?) c.825_826del (p.Phe276HisfsTer?) n.205_206del c.686_687del n.1356_1357del n.1323_1324del | ClinVar dbSNP gnomAD v4 |
| 19 | g.11113297_11113298delinsCT | CA2322771697 | LDLR | c.1464_1465delinsCT (p.Phe488=) c.1206_1207delinsCT (p.Phe402=) c.1086_1087delinsCT (p.Phe362=) c.1460_1461delinsCT c.702_703delinsCT (p.Phe234=) c.1083_1084delinsCT (p.Phe361=) c.825_826delinsCT (p.Phe275=) n.205_206delinsCT c.686_687delinsCT n.1356_1357delinsCT n.1323_1324delinsCT | |
| 19 | g.11113298T>A | CA404084689 | LDLR | c.1465T>A (p.Phe489Ile) c.1207T>A (p.Phe403Ile) c.1087T>A (p.Phe363Ile) c.1461T>A c.703T>A (p.Phe235Ile) c.1084T>A (p.Phe362Ile) c.826T>A (p.Phe276Ile) n.206T>A c.687T>A n.1357T>A n.1324T>A | |
| 19 | g.11113298T>C | CA10585355 | LDLR | c.1465T>C (p.Phe489Leu) c.1207T>C (p.Phe403Leu) c.1087T>C (p.Phe363Leu) c.1461T>C c.703T>C (p.Phe235Leu) c.1084T>C (p.Phe362Leu) c.826T>C (p.Phe276Leu) n.206T>C c.687T>C n.1357T>C n.1324T>C | ClinVar dbSNP |
| 19 | g.11113298T>G | CA404084690 | LDLR | c.1465T>G (p.Phe489Val) c.1207T>G (p.Phe403Val) c.1087T>G (p.Phe363Val) c.1461T>G c.703T>G (p.Phe235Val) c.1084T>G (p.Phe362Val) c.826T>G (p.Phe276Val) n.206T>G c.687T>G n.1357T>G n.1324T>G | |
| 19 | g.11113298T= | CA2322771699 | LDLR | c.1465T= (p.Phe489=) c.1207T= (p.Phe403=) c.1087T= (p.Phe363=) c.1461T= c.703T= (p.Phe235=) c.1084T= (p.Phe362=) c.826T= (p.Phe276=) n.206T= c.687T= n.1357T= n.1324T= | |
| 19 | g.11113299del | CA10585357 | LDLR | c.1466del (p.Phe489SerfsTer10) c.1208del (p.Phe403SerfsTer10) c.1088del (p.Phe363SerfsTer10) c.1462del c.704del (p.Phe235SerfsTer10) c.1085del (p.Phe362SerfsTer10) c.827del (p.Phe276SerfsTer10) n.207del c.688del n.1358del n.1325del | ClinVar dbSNP |
| 19 | g.11113299T>A | CA404084691 | LDLR | c.1466T>A (p.Phe489Tyr) c.1208T>A (p.Phe403Tyr) c.1088T>A (p.Phe363Tyr) c.1462T>A c.704T>A (p.Phe235Tyr) c.1085T>A (p.Phe362Tyr) c.827T>A (p.Phe276Tyr) n.207T>A c.688T>A n.1358T>A n.1325T>A | |
| 19 | g.11113299T>C | CA404084692 | LDLR | c.1466T>C (p.Phe489Ser) c.1208T>C (p.Phe403Ser) c.1088T>C (p.Phe363Ser) c.1462T>C c.704T>C (p.Phe235Ser) c.1085T>C (p.Phe362Ser) c.827T>C (p.Phe276Ser) n.207T>C c.688T>C n.1358T>C n.1325T>C | ClinVar |
| 19 | g.11113299T>G | CA404084693 | LDLR | c.1466T>G (p.Phe489Cys) c.1208T>G (p.Phe403Cys) c.1088T>G (p.Phe363Cys) c.1462T>G c.704T>G (p.Phe235Cys) c.1085T>G (p.Phe362Cys) c.827T>G (p.Phe276Cys) n.207T>G c.688T>G n.1358T>G n.1325T>G | |
| 19 | g.11113299_11113300delinsTC | CA2322771700 | LDLR | c.1466_1467delinsTC (p.Phe489=) c.1208_1209delinsTC (p.Phe403=) c.1088_1089delinsTC (p.Phe363=) c.1462_1463delinsTC c.704_705delinsTC (p.Phe235=) c.1085_1086delinsTC (p.Phe362=) c.827_828delinsTC (p.Phe276=) n.207_208delinsTC c.688_689delinsTC n.1358_1359delinsTC n.1325_1326delinsTC | |
| 19 | g.11113300del | CA10585358 | LDLR | c.1467del (p.Phe489LeufsTer10) c.1209del (p.Phe403LeufsTer10) c.1089del (p.Phe363LeufsTer10) c.1463del c.705del (p.Phe235LeufsTer10) c.1086del (p.Phe362LeufsTer10) c.828del (p.Phe276LeufsTer10) n.208del c.689del n.1359del n.1326del | ClinVar dbSNP |
| 19 | g.11113300C>A | CA404084695 | LDLR | c.1467C>A (p.Phe489Leu) c.1209C>A (p.Phe403Leu) c.1089C>A (p.Phe363Leu) c.1463C>A c.705C>A (p.Phe235Leu) c.1086C>A (p.Phe362Leu) c.828C>A (p.Phe276Leu) n.208C>A c.689C>A n.1359C>A n.1326C>A | ClinVar dbSNP |
| 19 | g.11113300C= | CA2322771701 | LDLR | c.1467C= (p.Phe489=) c.1209C= (p.Phe403=) c.1089C= (p.Phe363=) c.1463C= c.705C= (p.Phe235=) c.1086C= (p.Phe362=) c.828C= (p.Phe276=) n.208C= c.689C= n.1359C= n.1326C= | |
| 19 | g.11113300C>G | CA404084694 | LDLR | c.1467C>G (p.Phe489Leu) c.1209C>G (p.Phe403Leu) c.1089C>G (p.Phe363Leu) c.1463C>G c.705C>G (p.Phe235Leu) c.1086C>G (p.Phe362Leu) c.828C>G (p.Phe276Leu) n.208C>G c.689C>G n.1359C>G n.1326C>G | |
| 19 | g.11113300C>T | CA033059 | LDLR | c.1467C>T (p.Phe489=) c.1209C>T (p.Phe403=) c.1089C>T (p.Phe363=) c.1463C>T c.705C>T (p.Phe235=) c.1086C>T (p.Phe362=) c.828C>T (p.Phe276=) n.208C>T c.689C>T n.1359C>T n.1326C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.11113301A= | CA2322771702 | LDLR | c.1468A= (p.Thr490=) c.1210A= (p.Thr404=) c.1090A= (p.Thr364=) c.1464A= c.706A= (p.Thr236=) c.1087A= (p.Thr363=) c.829A= (p.Thr277=) n.209A= c.690A= n.1360A= n.1327A= | |
| 19 | g.11113301A>C | CA10585359 | LDLR | c.1468A>C (p.Thr490Pro) c.1210A>C (p.Thr404Pro) c.1090A>C (p.Thr364Pro) c.1464A>C c.706A>C (p.Thr236Pro) c.1087A>C (p.Thr363Pro) c.829A>C (p.Thr277Pro) n.209A>C c.690A>C n.1360A>C n.1327A>C | ClinVar dbSNP |
| 19 | g.11113301A>G | CA404084696 | LDLR | c.1468A>G (p.Thr490Ala) c.1210A>G (p.Thr404Ala) c.1090A>G (p.Thr364Ala) c.1464A>G c.706A>G (p.Thr236Ala) c.1087A>G (p.Thr363Ala) c.829A>G (p.Thr277Ala) n.209A>G c.690A>G n.1360A>G n.1327A>G | |
| 19 | g.11113301A>T | CA404084697 | LDLR | c.1468A>T (p.Thr490Ser) c.1210A>T (p.Thr404Ser) c.1090A>T (p.Thr364Ser) c.1464A>T c.706A>T (p.Thr236Ser) c.1087A>T (p.Thr363Ser) c.829A>T (p.Thr277Ser) n.209A>T c.690A>T n.1360A>T n.1327A>T | ClinVar dbSNP |
| 19 | g.11113302C>A | CA404084698 | LDLR | c.1469C>A (p.Thr490Asn) c.1211C>A (p.Thr404Asn) c.1091C>A (p.Thr364Asn) c.1465C>A c.707C>A (p.Thr236Asn) c.1088C>A (p.Thr363Asn) c.830C>A (p.Thr277Asn) n.210C>A c.691C>A n.1361C>A n.1328C>A | |
| 19 | g.11113302C= | CA2322771703 | LDLR | c.1469C= (p.Thr490=) c.1211C= (p.Thr404=) c.1091C= (p.Thr364=) c.1465C= c.707C= (p.Thr236=) c.1088C= (p.Thr363=) c.830C= (p.Thr277=) n.210C= c.691C= n.1361C= n.1328C= | |
| 19 | g.11113302C>G | CA404084699 | LDLR | c.1469C>G (p.Thr490Ser) c.1211C>G (p.Thr404Ser) c.1091C>G (p.Thr364Ser) c.1465C>G c.707C>G (p.Thr236Ser) c.1088C>G (p.Thr363Ser) c.830C>G (p.Thr277Ser) n.210C>G c.691C>G n.1361C>G n.1328C>G | |
| 19 | g.11113302C>T | CA10585360 | LDLR | c.1469C>T (p.Thr490Ile) c.1211C>T (p.Thr404Ile) c.1091C>T (p.Thr364Ile) c.1465C>T c.707C>T (p.Thr236Ile) c.1088C>T (p.Thr363Ile) c.830C>T (p.Thr277Ile) n.210C>T c.691C>T n.1361C>T n.1328C>T | ClinVar dbSNP |
| 19 | g.11113303del | CA2582474639 | LDLR | c.1470del (p.Asn491ThrfsTer8) c.1212del (p.Asn405ThrfsTer8) c.1092del (p.Asn365ThrfsTer8) c.1466del c.708del (p.Asn237ThrfsTer8) c.1089del (p.Asn364ThrfsTer8) c.831del (p.Asn278ThrfsTer8) n.211del c.692del n.1362del n.1329del | gnomAD v4 |
| 19 | g.11113302_11113305delinsTCAC | CA2695228163 | LDLR | c.1469_1472delinsTCAC (p.Thr490_Asn491delinsIleThr) c.1211_1214delinsTCAC (p.Thr404_Asn405delinsIleThr) c.1091_1094delinsTCAC (p.Thr364_Asn365delinsIleThr) c.1465_1468delinsTCAC c.707_710delinsTCAC (p.Thr236_Asn237delinsIleThr) c.1088_1091delinsTCAC (p.Thr363_Asn364delinsIleThr) c.830_833delinsTCAC (p.Thr277_Asn278delinsIleThr) n.210_213delinsTCAC c.691_694delinsTCAC n.1361_1364delinsTCAC n.1328_1331delinsTCAC | |
| 19 | g.11113303C>A | CA505743128 | LDLR | c.1470C>A (p.Thr490=) c.1212C>A (p.Thr404=) c.1092C>A (p.Thr364=) c.1466C>A c.708C>A (p.Thr236=) c.1089C>A (p.Thr363=) c.831C>A (p.Thr277=) n.211C>A c.692C>A n.1362C>A n.1329C>A | |
| 19 | g.11113303C>G | CA505743129 | LDLR | c.1470C>G (p.Thr490=) c.1212C>G (p.Thr404=) c.1092C>G (p.Thr364=) c.1466C>G c.708C>G (p.Thr236=) c.1089C>G (p.Thr363=) c.831C>G (p.Thr277=) n.211C>G c.692C>G n.1362C>G n.1329C>G | |
| 19 | g.11113303C>T | CA505743130 | LDLR | c.1470C>T (p.Thr490=) c.1212C>T (p.Thr404=) c.1092C>T (p.Thr364=) c.1466C>T c.708C>T (p.Thr236=) c.1089C>T (p.Thr363=) c.831C>T (p.Thr277=) n.211C>T c.692C>T n.1362C>T n.1329C>T | |
| 19 | g.11113304A= | CA2322771704 | LDLR | c.1471A= (p.Asn491=) c.1213A= (p.Asn405=) c.1093A= (p.Asn365=) c.1467A= c.709A= (p.Asn237=) c.1090A= (p.Asn364=) c.832A= (p.Asn278=) n.212A= c.693A= n.1363A= n.1330A= | |
| 19 | g.11113304A>C | CA404084700 | LDLR | c.1471A>C (p.Asn491His) c.1213A>C (p.Asn405His) c.1093A>C (p.Asn365His) c.1467A>C c.709A>C (p.Asn237His) c.1090A>C (p.Asn364His) c.832A>C (p.Asn278His) n.212A>C c.693A>C n.1363A>C n.1330A>C | |
| 19 | g.11113304A>G | CA404084701 | LDLR | c.1471A>G (p.Asn491Asp) c.1213A>G (p.Asn405Asp) c.1093A>G (p.Asn365Asp) c.1467A>G c.709A>G (p.Asn237Asp) c.1090A>G (p.Asn364Asp) c.832A>G (p.Asn278Asp) n.212A>G c.693A>G n.1363A>G n.1330A>G | |
| 19 | g.11113304A>T | CA404084702 | LDLR | c.1471A>T (p.Asn491Tyr) c.1213A>T (p.Asn405Tyr) c.1093A>T (p.Asn365Tyr) c.1467A>T c.709A>T (p.Asn237Tyr) c.1090A>T (p.Asn364Tyr) c.832A>T (p.Asn278Tyr) n.212A>T c.693A>T n.1363A>T n.1330A>T | |
| 19 | g.11113305A= | CA2322771705 | LDLR | c.1472A= (p.Asn491=) c.1214A= (p.Asn405=) c.1094A= (p.Asn365=) c.1468A= c.710A= (p.Asn237=) c.1091A= (p.Asn364=) c.833A= (p.Asn278=) n.213A= c.694A= n.1364A= n.1331A= | |
| 19 | g.11113305A>C | CA10585361 | LDLR | c.1472A>C (p.Asn491Thr) c.1214A>C (p.Asn405Thr) c.1094A>C (p.Asn365Thr) c.1468A>C c.710A>C (p.Asn237Thr) c.1091A>C (p.Asn364Thr) c.833A>C (p.Asn278Thr) n.213A>C c.694A>C n.1364A>C n.1331A>C | ClinVar dbSNP |
| 19 | g.11113305A>G | CA404084703 | LDLR | c.1472A>G (p.Asn491Ser) c.1214A>G (p.Asn405Ser) c.1094A>G (p.Asn365Ser) c.1468A>G c.710A>G (p.Asn237Ser) c.1091A>G (p.Asn364Ser) c.833A>G (p.Asn278Ser) n.213A>G c.694A>G n.1364A>G n.1331A>G | ClinVar |
| 19 | g.11113305A>T | CA404084704 | LDLR | c.1472A>T (p.Asn491Ile) c.1214A>T (p.Asn405Ile) c.1094A>T (p.Asn365Ile) c.1468A>T c.710A>T (p.Asn237Ile) c.1091A>T (p.Asn364Ile) c.833A>T (p.Asn278Ile) n.213A>T c.694A>T n.1364A>T n.1331A>T | ClinVar dbSNP |
| 19 | g.11113305_11113307del | CA2497030060 | LDLR | c.1472_1474del (p.Asn491del) c.1214_1216del (p.Asn405del) c.1094_1096del (p.Asn365del) c.1468_1470del c.710_712del (p.Asn237del) c.1091_1093del (p.Asn364del) c.833_835del (p.Asn278del) n.213_215del c.694_696del n.1364_1366del n.1331_1333del | |
| 19 | g.11113305_11113308dup | CA913188986 | LDLR | c.1472_1475dup (p.His493ProfsTer?) c.1214_1217dup (p.His407ProfsTer?) c.1094_1097dup (p.His367ProfsTer?) c.1468_1471dup c.710_713dup (p.His239ProfsTer?) c.1091_1094dup (p.His366ProfsTer?) c.833_836dup (p.His280ProfsTer?) n.213_216dup c.694_697dup n.1364_1367dup n.1331_1334dup | ClinVar dbSNP |
| 19 | g.11113306C>A | CA404084705 | LDLR | c.1473C>A (p.Asn491Lys) c.1215C>A (p.Asn405Lys) c.1095C>A (p.Asn365Lys) c.1469C>A c.711C>A (p.Asn237Lys) c.1092C>A (p.Asn364Lys) c.834C>A (p.Asn278Lys) n.214C>A c.695C>A n.1365C>A n.1332C>A | ClinVar |
| 19 | g.11113306C= | CA2322771706 | LDLR | c.1473C= (p.Asn491=) c.1215C= (p.Asn405=) c.1095C= (p.Asn365=) c.1469C= c.711C= (p.Asn237=) c.1092C= (p.Asn364=) c.834C= (p.Asn278=) n.214C= c.695C= n.1365C= n.1332C= | |
| 19 | g.11113306C>G | CA10585362 | LDLR | c.1473C>G (p.Asn491Lys) c.1215C>G (p.Asn405Lys) c.1095C>G (p.Asn365Lys) c.1469C>G c.711C>G (p.Asn237Lys) c.1092C>G (p.Asn364Lys) c.834C>G (p.Asn278Lys) n.214C>G c.695C>G n.1365C>G n.1332C>G | ClinVar dbSNP |