UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| 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.11113412_11113425del | CA2497030061 | LDLR | c.1579_1592del (p.Ile527ProfsTer12) c.1321_1334del (p.Ile441ProfsTer12) c.1201_1214del (p.Ile401ProfsTer12) c.1575_1588del c.817_830del (p.Ile273ProfsTer12) c.1198_1211del (p.Ile400ProfsTer12) c.940_953del (p.Ile314ProfsTer12) c.42_55del n.320_333del c.801_814del n.1471_1484del n.1438_1451del | |
| 19 | g.11113417C>A | CA404085214 | LDLR | c.1584C>A (p.Tyr528Ter) c.1326C>A (p.Tyr442Ter) c.1206C>A (p.Tyr402Ter) c.1580C>A c.822C>A (p.Tyr274Ter) c.1203C>A (p.Tyr401Ter) c.945C>A (p.Tyr315Ter) c.47C>A n.325C>A c.806C>A n.1476C>A n.1443C>A | |
| 19 | g.11113417C= | CA2322771791 | LDLR | c.1584C= (p.Tyr528=) c.1326C= (p.Tyr442=) c.1206C= (p.Tyr402=) c.1580C= c.822C= (p.Tyr274=) c.1203C= (p.Tyr401=) c.945C= (p.Tyr315=) c.47C= n.325C= c.806C= n.1476C= n.1443C= | |
| 19 | g.11113417C>G | CA10585405 | LDLR | c.1584C>G (p.Tyr528Ter) c.1326C>G (p.Tyr442Ter) c.1206C>G (p.Tyr402Ter) c.1580C>G c.822C>G (p.Tyr274Ter) c.1203C>G (p.Tyr401Ter) c.945C>G (p.Tyr315Ter) c.47C>G n.325C>G c.806C>G n.1476C>G n.1443C>G | ClinVar dbSNP |
| 19 | g.11113417C>T | CA305300076 | LDLR | c.1584C>T (p.Tyr528=) c.1326C>T (p.Tyr442=) c.1206C>T (p.Tyr402=) c.1580C>T c.822C>T (p.Tyr274=) c.1203C>T (p.Tyr401=) c.945C>T (p.Tyr315=) c.47C>T n.325C>T c.806C>T n.1476C>T n.1443C>T | ClinVar dbSNP |
| 19 | g.11113418T>A | CA404085222 | LDLR | c.1585T>A (p.Trp529Arg) c.1327T>A (p.Trp443Arg) c.1207T>A (p.Trp403Arg) c.1581T>A c.823T>A (p.Trp275Arg) c.1204T>A (p.Trp402Arg) c.946T>A (p.Trp316Arg) c.48T>A n.326T>A c.807T>A n.1477T>A n.1444T>A | |
| 19 | g.11113418T>C | CA033596 | LDLR | c.1585T>C (p.Trp529Arg) c.1327T>C (p.Trp443Arg) c.1207T>C (p.Trp403Arg) c.1581T>C c.823T>C (p.Trp275Arg) c.1204T>C (p.Trp402Arg) c.946T>C (p.Trp316Arg) c.48T>C n.326T>C c.807T>C n.1477T>C n.1444T>C | ClinVar dbSNP ExAC |
| 19 | g.11113418T>G | CA404085220 | LDLR | c.1585T>G (p.Trp529Gly) c.1327T>G (p.Trp443Gly) c.1207T>G (p.Trp403Gly) c.1581T>G c.823T>G (p.Trp275Gly) c.1204T>G (p.Trp402Gly) c.946T>G (p.Trp316Gly) c.48T>G n.326T>G c.807T>G n.1477T>G n.1444T>G | |
| 19 | g.11113418T= | CA2322771792 | LDLR | c.1585T= (p.Trp529=) c.1327T= (p.Trp443=) c.1207T= (p.Trp403=) c.1581T= c.823T= (p.Trp275=) c.1204T= (p.Trp402=) c.946T= (p.Trp316=) c.48T= n.326T= c.807T= n.1477T= n.1444T= | |
| 19 | g.11113419G>A | CA10585406 | LDLR | c.1586G>A (p.Trp529Ter) c.1328G>A (p.Trp443Ter) c.1208G>A (p.Trp403Ter) c.1582G>A c.824G>A (p.Trp275Ter) c.1205G>A (p.Trp402Ter) c.947G>A (p.Trp316Ter) c.49G>A n.327G>A c.808G>A n.1478G>A n.1445G>A | ClinVar dbSNP gnomAD v4 |
| 19 | g.11113419G>C | CA10585407 | LDLR | c.1586G>C (p.Trp529Ser) c.1328G>C (p.Trp443Ser) c.1208G>C (p.Trp403Ser) c.1582G>C c.824G>C (p.Trp275Ser) c.1205G>C (p.Trp402Ser) c.947G>C (p.Trp316Ser) c.49G>C n.327G>C c.808G>C n.1478G>C n.1445G>C | ClinVar dbSNP gnomAD v4 |
| 19 | g.11113419G= | CA2322771793 | LDLR | c.1586G= (p.Trp529=) c.1328G= (p.Trp443=) c.1208G= (p.Trp403=) c.1582G= c.824G= (p.Trp275=) c.1205G= (p.Trp402=) c.947G= (p.Trp316=) c.49G= n.327G= c.808G= n.1478G= n.1445G= | |
| 19 | g.11113419G>T | CA404085228 | LDLR | c.1586G>T (p.Trp529Leu) c.1328G>T (p.Trp443Leu) c.1208G>T (p.Trp403Leu) c.1582G>T c.824G>T (p.Trp275Leu) c.1205G>T (p.Trp402Leu) c.947G>T (p.Trp316Leu) c.49G>T n.327G>T c.808G>T n.1478G>T n.1445G>T | |
| 19 | g.11113420del | CA2573050597 | LDLR | c.1587del (p.Trp529CysfsTer8) c.1329del (p.Trp443CysfsTer8) c.1209del (p.Trp403CysfsTer8) c.1583del c.825del (p.Trp275CysfsTer8) c.1206del (p.Trp402CysfsTer8) c.948del (p.Trp316CysfsTer8) c.50del n.328del c.809del n.1479del n.1446del | |
| 19 | g.11113420G>A | CA10585408 | LDLR | c.1587G>A (p.Trp529Ter) c.1329G>A (p.Trp443Ter) c.1209G>A (p.Trp403Ter) c.1583G>A c.825G>A (p.Trp275Ter) c.1206G>A (p.Trp402Ter) c.948G>A (p.Trp316Ter) c.50G>A n.328G>A c.809G>A n.1479G>A n.1446G>A | ClinVar dbSNP gnomAD v4 |
| 19 | g.11113420G>C | CA10585409 | LDLR | c.1587G>C (p.Trp529Cys) c.1329G>C (p.Trp443Cys) c.1209G>C (p.Trp403Cys) c.1583G>C c.825G>C (p.Trp275Cys) c.1206G>C (p.Trp402Cys) c.948G>C (p.Trp316Cys) c.50G>C n.328G>C c.809G>C n.1479G>C n.1446G>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.11113420G= | CA2322771794 | LDLR | c.1587G= (p.Trp529=) c.1329G= (p.Trp443=) c.1209G= (p.Trp403=) c.1583G= c.825G= (p.Trp275=) c.1206G= (p.Trp402=) c.948G= (p.Trp316=) c.50G= n.328G= c.809G= n.1479G= n.1446G= | |
| 19 | g.11113420G>T | CA10585410 | LDLR | c.1587G>T (p.Trp529Cys) c.1329G>T (p.Trp443Cys) c.1209G>T (p.Trp403Cys) c.1583G>T c.825G>T (p.Trp275Cys) c.1206G>T (p.Trp402Cys) c.948G>T (p.Trp316Cys) c.50G>T n.328G>T c.809G>T n.1479G>T n.1446G>T | ClinVar dbSNP gnomAD v4 |
| 19 | g.11113420_11113421delinsGT | CA2322771795 | LDLR | c.1587_1588delinsGT (p.Trp529=) c.1329_1330delinsGT (p.Trp443=) c.1209_1210delinsGT (p.Trp403=) c.1583_1584delinsGT c.825_826delinsGT (p.Trp275=) c.1206_1207delinsGT (p.Trp402=) c.948_949delinsGT (p.Trp316=) c.50_51delinsGT n.328_329delinsGT c.809_810delinsGT n.1479_1480delinsGT n.1446_1447delinsGT | |
| 19 | g.11113421del | CA16602329 | LDLR | c.1588del (p.Ser530LeufsTer7) c.1330del (p.Ser444LeufsTer7) c.1210del (p.Ser404LeufsTer7) c.1584del c.826del (p.Ser276LeufsTer7) c.1207del (p.Ser403LeufsTer7) c.949del (p.Ser317LeufsTer7) c.51del n.329del c.810del n.1480del n.1447del | ClinVar dbSNP |
| 19 | g.11113421T>A | CA404085240 | LDLR | c.1588T>A (p.Ser530Thr) c.1330T>A (p.Ser444Thr) c.1210T>A (p.Ser404Thr) c.1584T>A c.826T>A (p.Ser276Thr) c.1207T>A (p.Ser403Thr) c.949T>A (p.Ser317Thr) c.51T>A n.329T>A c.810T>A n.1480T>A n.1447T>A | |
| 19 | g.11113421T>C | CA10576304 | LDLR | c.1588T>C (p.Ser530Pro) c.1330T>C (p.Ser444Pro) c.1210T>C (p.Ser404Pro) c.1584T>C c.826T>C (p.Ser276Pro) c.1207T>C (p.Ser403Pro) c.949T>C (p.Ser317Pro) c.51T>C n.329T>C c.810T>C n.1480T>C n.1447T>C | ClinVar dbSNP gnomAD v4 |
| 19 | g.11113421T>G | CA404085244 | LDLR | c.1588T>G (p.Ser530Ala) c.1330T>G (p.Ser444Ala) c.1210T>G (p.Ser404Ala) c.1584T>G c.826T>G (p.Ser276Ala) c.1207T>G (p.Ser403Ala) c.949T>G (p.Ser317Ala) c.51T>G n.329T>G c.810T>G n.1480T>G n.1447T>G | |
| 19 | g.11113421T= | CA2322771796 | LDLR | c.1588T= (p.Ser530=) c.1330T= (p.Ser444=) c.1210T= (p.Ser404=) c.1584T= c.826T= (p.Ser276=) c.1207T= (p.Ser403=) c.949T= (p.Ser317=) c.51T= n.329T= c.810T= n.1480T= n.1447T= | |
| 19 | g.11113422C>A | CA404085248 | LDLR | c.1589C>A (p.Ser530Tyr) c.1331C>A (p.Ser444Tyr) c.1211C>A (p.Ser404Tyr) c.1585C>A c.827C>A (p.Ser276Tyr) c.1208C>A (p.Ser403Tyr) c.950C>A (p.Ser317Tyr) c.52C>A n.330C>A c.811C>A n.1481C>A n.1448C>A | gnomAD v4 |
| 19 | g.11113422C>G | CA404085251 | LDLR | c.1589C>G (p.Ser530Cys) c.1331C>G (p.Ser444Cys) c.1211C>G (p.Ser404Cys) c.1585C>G c.827C>G (p.Ser276Cys) c.1208C>G (p.Ser403Cys) c.950C>G (p.Ser317Cys) c.52C>G n.330C>G c.811C>G n.1481C>G n.1448C>G | |
| 19 | g.11113422C>T | CA404085252 | LDLR | c.1589C>T (p.Ser530Phe) c.1331C>T (p.Ser444Phe) c.1211C>T (p.Ser404Phe) c.1585C>T c.827C>T (p.Ser276Phe) c.1208C>T (p.Ser403Phe) c.950C>T (p.Ser317Phe) c.52C>T n.330C>T c.811C>T n.1481C>T n.1448C>T | ClinVar dbSNP |
| 19 | g.11113423T>A | CA505743245 | LDLR | c.1590T>A (p.Ser530=) c.1332T>A (p.Ser444=) c.1212T>A (p.Ser404=) c.1586T>A c.828T>A (p.Ser276=) c.1209T>A (p.Ser403=) c.951T>A (p.Ser317=) c.53T>A n.331T>A c.812T>A n.1482T>A n.1449T>A | |
| 19 | g.11113423T>C | CA505743246 | LDLR | c.1590T>C (p.Ser530=) c.1332T>C (p.Ser444=) c.1212T>C (p.Ser404=) c.1586T>C c.828T>C (p.Ser276=) c.1209T>C (p.Ser403=) c.951T>C (p.Ser317=) c.53T>C n.331T>C c.812T>C n.1482T>C n.1449T>C | |
| 19 | g.11113423T>G | CA505743247 | LDLR | c.1590T>G (p.Ser530=) c.1332T>G (p.Ser444=) c.1212T>G (p.Ser404=) c.1586T>G c.828T>G (p.Ser276=) c.1209T>G (p.Ser403=) c.951T>G (p.Ser317=) c.53T>G n.331T>G c.812T>G n.1482T>G n.1449T>G | |
| 19 | g.11113423dup | CA2695228173 | LDLR | c.1590dup (p.Asp531Ter) c.1332dup (p.Asp445Ter) c.1212dup (p.Asp405Ter) c.1586dup c.828dup (p.Asp277Ter) c.1209dup (p.Asp404Ter) c.951dup (p.Asp318Ter) c.53dup n.331dup c.812dup n.1482dup n.1449dup | |
| 19 | g.11113424G>A | CA404085260 | LDLR | c.1591G>A (p.Asp531Asn) c.1333G>A (p.Asp445Asn) c.1213G>A (p.Asp405Asn) c.1587G>A c.829G>A (p.Asp277Asn) c.1210G>A (p.Asp404Asn) c.952G>A (p.Asp318Asn) c.54G>A n.332G>A c.813G>A n.1483G>A n.1450G>A | |
| 19 | g.11113424G>C | CA404085256 | LDLR | c.1591G>C (p.Asp531His) c.1333G>C (p.Asp445His) c.1213G>C (p.Asp405His) c.1587G>C c.829G>C (p.Asp277His) c.1210G>C (p.Asp404His) c.952G>C (p.Asp318His) c.54G>C n.332G>C c.813G>C n.1483G>C n.1450G>C | |
| 19 | g.11113424G>T | CA404085259 | LDLR | c.1591G>T (p.Asp531Tyr) c.1333G>T (p.Asp445Tyr) c.1213G>T (p.Asp405Tyr) c.1587G>T c.829G>T (p.Asp277Tyr) c.1210G>T (p.Asp404Tyr) c.952G>T (p.Asp318Tyr) c.54G>T n.332G>T c.813G>T n.1483G>T n.1450G>T | ClinVar |
| 19 | g.11113425A>C | CA404085264 | LDLR | c.1592A>C (p.Asp531Ala) c.1334A>C (p.Asp445Ala) c.1214A>C (p.Asp405Ala) c.1588A>C c.830A>C (p.Asp277Ala) c.1211A>C (p.Asp404Ala) c.953A>C (p.Asp318Ala) c.55A>C n.333A>C c.814A>C n.1484A>C n.1451A>C | |
| 19 | g.11113425A>G | CA404085266 | LDLR | c.1592A>G (p.Asp531Gly) c.1334A>G (p.Asp445Gly) c.1214A>G (p.Asp405Gly) c.1588A>G c.830A>G (p.Asp277Gly) c.1211A>G (p.Asp404Gly) c.953A>G (p.Asp318Gly) c.55A>G n.333A>G c.814A>G n.1484A>G n.1451A>G | |
| 19 | g.11113425A>T | CA404085269 | LDLR | c.1592A>T (p.Asp531Val) c.1334A>T (p.Asp445Val) c.1214A>T (p.Asp405Val) c.1588A>T c.830A>T (p.Asp277Val) c.1211A>T (p.Asp404Val) c.953A>T (p.Asp318Val) c.55A>T n.333A>T c.814A>T n.1484A>T n.1451A>T | |
| 19 | g.11113425_11113426delinsAC | CA2322771797 | LDLR | c.1592_1593delinsAC (p.Asp531=) c.1334_1335delinsAC (p.Asp445=) c.1214_1215delinsAC (p.Asp405=) c.1588_1589delinsAC c.830_831delinsAC (p.Asp277=) c.1211_1212delinsAC (p.Asp404=) c.953_954delinsAC (p.Asp318=) c.55_56delinsAC n.333_334delinsAC c.814_815delinsAC n.1484_1485delinsAC n.1451_1452delinsAC | |
| 19 | g.11113426C>A | CA033606 | LDLR | c.1593C>A (p.Asp531Glu) c.1335C>A (p.Asp445Glu) c.1215C>A (p.Asp405Glu) c.1589C>A c.831C>A (p.Asp277Glu) c.1212C>A (p.Asp404Glu) c.954C>A (p.Asp318Glu) c.56C>A n.334C>A c.815C>A n.1485C>A n.1452C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.11113426C= | CA2322771798 | LDLR | c.1593C= (p.Asp531=) c.1335C= (p.Asp445=) c.1215C= (p.Asp405=) c.1589C= c.831C= (p.Asp277=) c.1212C= (p.Asp404=) c.954C= (p.Asp318=) c.56C= n.334C= c.815C= n.1485C= n.1452C= | |
| 19 | g.11113426C>G | CA404085273 | LDLR | c.1593C>G (p.Asp531Glu) c.1335C>G (p.Asp445Glu) c.1215C>G (p.Asp405Glu) c.1589C>G c.831C>G (p.Asp277Glu) c.1212C>G (p.Asp404Glu) c.954C>G (p.Asp318Glu) c.56C>G n.334C>G c.815C>G n.1485C>G n.1452C>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.11113426C>T | CA505743250 | LDLR | c.1593C>T (p.Asp531=) c.1335C>T (p.Asp445=) c.1215C>T (p.Asp405=) c.1589C>T c.831C>T (p.Asp277=) c.1212C>T (p.Asp404=) c.954C>T (p.Asp318=) c.56C>T n.334C>T c.815C>T n.1485C>T n.1452C>T | ClinVar dbSNP gnomAD v4 |
| 19 | g.11113427del | CA10585411 | LDLR | c.1594del (p.Leu532CysfsTer5) c.1336del (p.Leu446CysfsTer5) c.1216del (p.Leu406CysfsTer5) c.1590del c.832del (p.Leu278CysfsTer5) c.1213del (p.Leu405CysfsTer5) c.955del (p.Leu319CysfsTer5) c.57del n.335del c.816del n.1486del n.1453del | ClinVar dbSNP |
| 19 | g.11113427C>A | CA16615989 | LDLR | c.1594C>A (p.Leu532Met) c.1336C>A (p.Leu446Met) c.1216C>A (p.Leu406Met) c.1590C>A c.832C>A (p.Leu278Met) c.1213C>A (p.Leu405Met) c.955C>A (p.Leu319Met) c.57C>A n.335C>A c.816C>A n.1486C>A n.1453C>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |