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.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.11113376_11113417delinsGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTAC | CA2322771760 | LDLR | c.1543_1584delinsGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTAC (p.Val515=) c.1285_1326delinsGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTAC (p.Val429=) c.1165_1206delinsGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTAC (p.Val389=) c.1539_1580delinsGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTAC c.781_822delinsGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTAC (p.Val261=) c.1162_1203delinsGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTAC (p.Val388=) c.904_945delinsGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTAC (p.Val302=) c.6_47delinsGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTAC n.284_325delinsGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTAC c.765_806delinsGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTAC n.1435_1476delinsGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTAC n.1402_1443delinsGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTAC | |
| 19 | g.11113382_11113422del | CA10585388 | LDLR | c.1549_1589del (p.Ala517Ter) c.1291_1331del (p.Ala431Ter) c.1171_1211del (p.Ala391Ter) c.1545_1585del c.787_827del (p.Ala263Ter) c.1168_1208del (p.Ala390Ter) c.910_950del (p.Ala304Ter) c.12_52del n.290_330del c.771_811del n.1441_1481del n.1408_1448del | ClinVar dbSNP |
| 19 | g.11113392C>A | CA10585392 | LDLR | c.1559C>A (p.Thr520Lys) c.1301C>A (p.Thr434Lys) c.1181C>A (p.Thr394Lys) c.1555C>A c.797C>A (p.Thr266Lys) c.1178C>A (p.Thr393Lys) c.920C>A (p.Thr307Lys) c.22C>A n.300C>A c.781C>A n.1451C>A n.1418C>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.11113392C= | CA2322771773 | LDLR | c.1559C= (p.Thr520=) c.1301C= (p.Thr434=) c.1181C= (p.Thr394=) c.1555C= c.797C= (p.Thr266=) c.1178C= (p.Thr393=) c.920C= (p.Thr307=) c.22C= n.300C= c.781C= n.1451C= n.1418C= | |
| 19 | g.11113392C>G | CA10585393 | LDLR | c.1559C>G (p.Thr520Arg) c.1301C>G (p.Thr434Arg) c.1181C>G (p.Thr394Arg) c.1555C>G c.797C>G (p.Thr266Arg) c.1178C>G (p.Thr393Arg) c.920C>G (p.Thr307Arg) c.22C>G n.300C>G c.781C>G n.1451C>G n.1418C>G | ClinVar dbSNP gnomAD v4 |
| 19 | g.11113392C>T | CA033501 | LDLR | c.1559C>T (p.Thr520Met) c.1301C>T (p.Thr434Met) c.1181C>T (p.Thr394Met) c.1555C>T c.797C>T (p.Thr266Met) c.1178C>T (p.Thr393Met) c.920C>T (p.Thr307Met) c.22C>T n.300C>T c.781C>T n.1451C>T n.1418C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 19 | g.11113392_11113393delinsCG | CA2322771772 | LDLR | c.1559_1560delinsCG (p.Thr520=) c.1301_1302delinsCG (p.Thr434=) c.1181_1182delinsCG (p.Thr394=) c.1555_1556delinsCG c.797_798delinsCG (p.Thr266=) c.1178_1179delinsCG (p.Thr393=) c.920_921delinsCG (p.Thr307=) c.22_23delinsCG n.300_301delinsCG c.781_782delinsCG n.1451_1452delinsCG n.1418_1419delinsCG | |
| 19 | g.11113393G>A | CA033520 | LDLR | c.1560G>A (p.Thr520=) c.1302G>A (p.Thr434=) c.1182G>A (p.Thr394=) c.1556G>A c.798G>A (p.Thr266=) c.1179G>A (p.Thr393=) c.921G>A (p.Thr307=) c.23G>A n.301G>A c.782G>A n.1452G>A n.1419G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.11113393G>C | CA505743221 | LDLR | c.1560G>C (p.Thr520=) c.1302G>C (p.Thr434=) c.1182G>C (p.Thr394=) c.1556G>C c.798G>C (p.Thr266=) c.1179G>C (p.Thr393=) c.921G>C (p.Thr307=) c.23G>C n.301G>C c.782G>C n.1452G>C n.1419G>C | |
| 19 | g.11113393G= | CA2322771774 | LDLR | c.1560G= (p.Thr520=) c.1302G= (p.Thr434=) c.1182G= (p.Thr394=) c.1556G= c.798G= (p.Thr266=) c.1179G= (p.Thr393=) c.921G= (p.Thr307=) c.23G= n.301G= c.782G= n.1452G= n.1419G= | |
| 19 | g.11113393G>T | CA505743222 | LDLR | c.1560G>T (p.Thr520=) c.1302G>T (p.Thr434=) c.1182G>T (p.Thr394=) c.1556G>T c.798G>T (p.Thr266=) c.1179G>T (p.Thr393=) c.921G>T (p.Thr307=) c.23G>T n.301G>T c.782G>T n.1452G>T n.1419G>T | gnomAD v4 |
| 19 | g.11113394del | CA10585394 | LDLR | c.1561del (p.Glu521ArgfsTer16) c.1303del (p.Glu435ArgfsTer16) c.1183del (p.Glu395ArgfsTer16) c.1557del c.799del (p.Glu267ArgfsTer16) c.1180del (p.Glu394ArgfsTer16) c.922del (p.Glu308ArgfsTer16) c.24del n.302del c.783del n.1453del n.1420del | ClinVar dbSNP |
| 19 | g.11113394G>A | CA404085061 | LDLR | c.1561G>A (p.Glu521Lys) c.1303G>A (p.Glu435Lys) c.1183G>A (p.Glu395Lys) c.1557G>A c.799G>A (p.Glu267Lys) c.1180G>A (p.Glu394Lys) c.922G>A (p.Glu308Lys) c.24G>A n.302G>A c.783G>A n.1453G>A n.1420G>A | |
| 19 | g.11113394G>C | CA404085058 | LDLR | c.1561G>C (p.Glu521Gln) c.1303G>C (p.Glu435Gln) c.1183G>C (p.Glu395Gln) c.1557G>C c.799G>C (p.Glu267Gln) c.1180G>C (p.Glu394Gln) c.922G>C (p.Glu308Gln) c.24G>C n.302G>C c.783G>C n.1453G>C n.1420G>C | |
| 19 | g.11113394G= | CA2322771775 | LDLR | c.1561G= (p.Glu521=) c.1303G= (p.Glu435=) c.1183G= (p.Glu395=) c.1557G= c.799G= (p.Glu267=) c.1180G= (p.Glu394=) c.922G= (p.Glu308=) c.24G= n.302G= c.783G= n.1453G= n.1420G= | |
| 19 | g.11113394G>T | CA404085051 | LDLR | c.1561G>T (p.Glu521Ter) c.1303G>T (p.Glu435Ter) c.1183G>T (p.Glu395Ter) c.1557G>T c.799G>T (p.Glu267Ter) c.1180G>T (p.Glu394Ter) c.922G>T (p.Glu308Ter) c.24G>T n.302G>T c.783G>T n.1453G>T n.1420G>T | |
| 19 | g.11113395A>C | CA404085064 | LDLR | c.1562A>C (p.Glu521Ala) c.1304A>C (p.Glu435Ala) c.1184A>C (p.Glu395Ala) c.1558A>C c.800A>C (p.Glu267Ala) c.1181A>C (p.Glu394Ala) c.923A>C (p.Glu308Ala) c.25A>C n.303A>C c.784A>C n.1454A>C n.1421A>C | |
| 19 | g.11113395A>G | CA404085067 | LDLR | c.1562A>G (p.Glu521Gly) c.1304A>G (p.Glu435Gly) c.1184A>G (p.Glu395Gly) c.1558A>G c.800A>G (p.Glu267Gly) c.1181A>G (p.Glu394Gly) c.923A>G (p.Glu308Gly) c.25A>G n.303A>G c.784A>G n.1454A>G n.1421A>G | ClinVar |
| 19 | g.11113395A>T | CA404085069 | LDLR | c.1562A>T (p.Glu521Val) c.1304A>T (p.Glu435Val) c.1184A>T (p.Glu395Val) c.1558A>T c.800A>T (p.Glu267Val) c.1181A>T (p.Glu394Val) c.923A>T (p.Glu308Val) c.25A>T n.303A>T c.784A>T n.1454A>T n.1421A>T | ClinVar |
| 19 | g.11113395_11113396delinsAG | CA2322771776 | LDLR | c.1562_1563delinsAG (p.Glu521=) c.1304_1305delinsAG (p.Glu435=) c.1184_1185delinsAG (p.Glu395=) c.1558_1559delinsAG c.800_801delinsAG (p.Glu267=) c.1181_1182delinsAG (p.Glu394=) c.923_924delinsAG (p.Glu308=) c.25_26delinsAG n.303_304delinsAG c.784_785delinsAG n.1454_1455delinsAG n.1421_1422delinsAG | |
| 19 | g.11113395_11113398delinsTGGC | CA2580096432 | LDLR | c.1562_1565delinsTGGC (p.Glu521_Val522delinsValAla) c.1304_1307delinsTGGC (p.Glu435_Val436delinsValAla) c.1184_1187delinsTGGC (p.Glu395_Val396delinsValAla) c.1558_1561delinsTGGC c.800_803delinsTGGC (p.Glu267_Val268delinsValAla) c.1181_1184delinsTGGC (p.Glu394_Val395delinsValAla) c.923_926delinsTGGC (p.Glu308_Val309delinsValAla) c.25_28delinsTGGC n.303_306delinsTGGC c.784_787delinsTGGC n.1454_1457delinsTGGC n.1421_1424delinsTGGC | ClinVar |
| 19 | g.11113400_11113401insTCGCTCTGGACACGTAGGTGG | CA1139666270 | LDLR | c.1567_1568insTCGCTCTGGACACGTAGGTGG (p.Ala523ValfsTer6) c.1309_1310insTCGCTCTGGACACGTAGGTGG (p.Ala437ValfsTer6) c.1189_1190insTCGCTCTGGACACGTAGGTGG (p.Ala397ValfsTer6) c.1563_1564insTCGCTCTGGACACGTAGGTGG c.805_806insTCGCTCTGGACACGTAGGTGG (p.Ala269ValfsTer6) c.1186_1187insTCGCTCTGGACACGTAGGTGG (p.Ala396ValfsTer6) c.928_929insTCGCTCTGGACACGTAGGTGG (p.Ala310ValfsTer6) c.30_31insTCGCTCTGGACACGTAGGTGG n.308_309insTCGCTCTGGACACGTAGGTGG c.789_790insTCGCTCTGGACACGTAGGTGG n.1459_1460insTCGCTCTGGACACGTAGGTGG n.1426_1427insTCGCTCTGGACACGTAGGTGG | ClinVar dbSNP |
| 19 | g.11113396G>A | CA505743223 | LDLR | c.1563G>A (p.Glu521=) c.1305G>A (p.Glu435=) c.1185G>A (p.Glu395=) c.1559G>A c.801G>A (p.Glu267=) c.1182G>A (p.Glu394=) c.924G>A (p.Glu308=) c.26G>A n.304G>A c.785G>A n.1455G>A n.1422G>A | ClinVar dbSNP |
| 19 | g.11113396G>C | CA404085072 | LDLR | c.1563G>C (p.Glu521Asp) c.1305G>C (p.Glu435Asp) c.1185G>C (p.Glu395Asp) c.1559G>C c.801G>C (p.Glu267Asp) c.1182G>C (p.Glu394Asp) c.924G>C (p.Glu308Asp) c.26G>C n.304G>C c.785G>C n.1455G>C n.1422G>C | |
| 19 | g.11113396G>T | CA404085073 | LDLR | c.1563G>T (p.Glu521Asp) c.1305G>T (p.Glu435Asp) c.1185G>T (p.Glu395Asp) c.1559G>T c.801G>T (p.Glu267Asp) c.1182G>T (p.Glu394Asp) c.924G>T (p.Glu308Asp) c.26G>T n.304G>T c.785G>T n.1455G>T n.1422G>T | |
| 19 | g.11113397del | CA10585395 | LDLR | c.1564del (p.Val522TrpfsTer15) c.1306del (p.Val436TrpfsTer15) c.1186del (p.Val396TrpfsTer15) c.1560del c.802del (p.Val268TrpfsTer15) c.1183del (p.Val395TrpfsTer15) c.925del (p.Val309TrpfsTer15) c.27del n.305del c.786del n.1456del n.1423del | ClinVar dbSNP gnomAD v4 |
| 19 | g.11113397G>A | CA404085088 | LDLR | c.1564G>A (p.Val522Met) c.1306G>A (p.Val436Met) c.1186G>A (p.Val396Met) c.1560G>A c.802G>A (p.Val268Met) c.1183G>A (p.Val395Met) c.925G>A (p.Val309Met) c.27G>A n.305G>A c.786G>A n.1456G>A n.1423G>A | ClinVar dbSNP |
| 19 | g.11113397G>C | CA404085082 | LDLR | c.1564G>C (p.Val522Leu) c.1306G>C (p.Val436Leu) c.1186G>C (p.Val396Leu) c.1560G>C c.802G>C (p.Val268Leu) c.1183G>C (p.Val395Leu) c.925G>C (p.Val309Leu) c.27G>C n.305G>C c.786G>C n.1456G>C n.1423G>C | |
| 19 | g.11113397G>T | CA404085085 | LDLR | c.1564G>T (p.Val522Leu) c.1306G>T (p.Val436Leu) c.1186G>T (p.Val396Leu) c.1560G>T c.802G>T (p.Val268Leu) c.1183G>T (p.Val395Leu) c.925G>T (p.Val309Leu) c.27G>T n.305G>T c.786G>T n.1456G>T n.1423G>T | |
| 19 | g.11113398T>A | CA404085099 | LDLR | c.1565T>A (p.Val522Glu) c.1307T>A (p.Val436Glu) c.1187T>A (p.Val396Glu) c.1561T>A c.803T>A (p.Val268Glu) c.1184T>A (p.Val395Glu) c.926T>A (p.Val309Glu) c.28T>A n.306T>A c.787T>A n.1457T>A n.1424T>A | ClinVar dbSNP |
| 19 | g.11113398T>C | CA033539 | LDLR | c.1565T>C (p.Val522Ala) c.1307T>C (p.Val436Ala) c.1187T>C (p.Val396Ala) c.1561T>C c.803T>C (p.Val268Ala) c.1184T>C (p.Val395Ala) c.926T>C (p.Val309Ala) c.28T>C n.306T>C c.787T>C n.1457T>C n.1424T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.11113398T>G | CA404085094 | LDLR | c.1565T>G (p.Val522Gly) c.1307T>G (p.Val436Gly) c.1187T>G (p.Val396Gly) c.1561T>G c.803T>G (p.Val268Gly) c.1184T>G (p.Val395Gly) c.926T>G (p.Val309Gly) c.28T>G n.306T>G c.787T>G n.1457T>G n.1424T>G | ClinVar dbSNP |
| 19 | g.11113398T= | CA2322771777 | LDLR | c.1565T= (p.Val522=) c.1307T= (p.Val436=) c.1187T= (p.Val396=) c.1561T= c.803T= (p.Val268=) c.1184T= (p.Val395=) c.926T= (p.Val309=) c.28T= n.306T= c.787T= n.1457T= n.1424T= | |
| 19 | g.11113399G>A | CA505743225 | LDLR | c.1566G>A (p.Val522=) c.1308G>A (p.Val436=) c.1188G>A (p.Val396=) c.1562G>A c.804G>A (p.Val268=) c.1185G>A (p.Val395=) c.927G>A (p.Val309=) c.29G>A n.307G>A c.788G>A n.1458G>A n.1425G>A | |
| 19 | g.11113399G>C | CA505743226 | LDLR | c.1566G>C (p.Val522=) c.1308G>C (p.Val436=) c.1188G>C (p.Val396=) c.1562G>C c.804G>C (p.Val268=) c.1185G>C (p.Val395=) c.927G>C (p.Val309=) c.29G>C n.307G>C c.788G>C n.1458G>C n.1425G>C | |
| 19 | g.11113399G>T | CA505743227 | LDLR | c.1566G>T (p.Val522=) c.1308G>T (p.Val436=) c.1188G>T (p.Val396=) c.1562G>T c.804G>T (p.Val268=) c.1185G>T (p.Val395=) c.927G>T (p.Val309=) c.29G>T n.307G>T c.788G>T n.1458G>T n.1425G>T | |
| 19 | g.11113400dup | CA10585396 | LDLR | c.1567dup (p.Ala523GlyfsTer4) c.1309dup (p.Ala437GlyfsTer4) c.1189dup (p.Ala397GlyfsTer4) c.1563dup c.805dup (p.Ala269GlyfsTer4) c.1186dup (p.Ala396GlyfsTer4) c.928dup (p.Ala310GlyfsTer4) c.30dup n.308dup c.789dup n.1459dup n.1426dup | ClinVar dbSNP |
| 19 | g.11113400G>A | CA404085103 | LDLR | c.1567G>A (p.Ala523Thr) c.1309G>A (p.Ala437Thr) c.1189G>A (p.Ala397Thr) c.1563G>A c.805G>A (p.Ala269Thr) c.1186G>A (p.Ala396Thr) c.928G>A (p.Ala310Thr) c.30G>A n.308G>A c.789G>A n.1459G>A n.1426G>A | ClinVar dbSNP gnomAD v4 |
| 19 | g.11113400G>C | CA404085104 | LDLR | c.1567G>C (p.Ala523Pro) c.1309G>C (p.Ala437Pro) c.1189G>C (p.Ala397Pro) c.1563G>C c.805G>C (p.Ala269Pro) c.1186G>C (p.Ala396Pro) c.928G>C (p.Ala310Pro) c.30G>C n.308G>C c.789G>C n.1459G>C n.1426G>C | ClinVar |
| 19 | g.11113400G= | CA2322771778 | LDLR | c.1567G= (p.Ala523=) c.1309G= (p.Ala437=) c.1189G= (p.Ala397=) c.1563G= c.805G= (p.Ala269=) c.1186G= (p.Ala396=) c.928G= (p.Ala310=) c.30G= n.308G= c.789G= n.1459G= n.1426G= | |
| 19 | g.11113400G>T | CA404085105 | LDLR | c.1567G>T (p.Ala523Ser) c.1309G>T (p.Ala437Ser) c.1189G>T (p.Ala397Ser) c.1563G>T c.805G>T (p.Ala269Ser) c.1186G>T (p.Ala396Ser) c.928G>T (p.Ala310Ser) c.30G>T n.308G>T c.789G>T n.1459G>T n.1426G>T | |
| 19 | g.11113401C>A | CA404085106 | LDLR | c.1568C>A (p.Ala523Asp) c.1310C>A (p.Ala437Asp) c.1190C>A (p.Ala397Asp) c.1564C>A c.806C>A (p.Ala269Asp) c.1187C>A (p.Ala396Asp) c.929C>A (p.Ala310Asp) c.31C>A n.309C>A c.790C>A n.1460C>A n.1427C>A | gnomAD v4 |
| 19 | g.11113401C= | CA2322771779 | LDLR | c.1568C= (p.Ala523=) c.1310C= (p.Ala437=) c.1190C= (p.Ala397=) c.1564C= c.806C= (p.Ala269=) c.1187C= (p.Ala396=) c.929C= (p.Ala310=) c.31C= n.309C= c.790C= n.1460C= n.1427C= | |
| 19 | g.11113401C>G | CA404085108 | LDLR | c.1568C>G (p.Ala523Gly) c.1310C>G (p.Ala437Gly) c.1190C>G (p.Ala397Gly) c.1564C>G c.806C>G (p.Ala269Gly) c.1187C>G (p.Ala396Gly) c.929C>G (p.Ala310Gly) c.31C>G n.309C>G c.790C>G n.1460C>G n.1427C>G | |
| 19 | g.11113401C>T | CA033547 | LDLR | c.1568C>T (p.Ala523Val) c.1310C>T (p.Ala437Val) c.1190C>T (p.Ala397Val) c.1564C>T c.806C>T (p.Ala269Val) c.1187C>T (p.Ala396Val) c.929C>T (p.Ala310Val) c.31C>T n.309C>T c.790C>T n.1460C>T n.1427C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.11113402C>A | CA505743231 | LDLR | c.1569C>A (p.Ala523=) c.1311C>A (p.Ala437=) c.1191C>A (p.Ala397=) c.1565C>A c.807C>A (p.Ala269=) c.1188C>A (p.Ala396=) c.930C>A (p.Ala310=) c.32C>A n.310C>A c.791C>A n.1461C>A n.1428C>A |