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.11113636_11113638del | CA10585465 | LDLR | c.1718_1720del (p.Asn573del) c.1460_1462del (p.Asn487del) c.1340_1342del (p.Asn447del) c.1714_1716del c.956_958del (p.Asn319del) c.1337_1339del (p.Asn446del) c.1079_1081del (p.Asn360del) c.181_183del n.1610_1612del n.1577_1579del | ClinVar dbSNP |
| 19 | g.11113635_11113648dup | CA915952548 | LDLR | c.1717_1730dup (p.Asp578ThrfsTer20) c.1459_1472dup (p.Asp492ThrfsTer20) c.1339_1352dup (p.Asp452ThrfsTer20) c.1713_1726dup c.955_968dup (p.Asp324ThrfsTer20) c.1336_1349dup (p.Asp451ThrfsTer20) c.1078_1091dup (p.Asp365ThrfsTer20) c.180_193dup n.1609_1622dup n.1576_1589dup | ClinVar dbSNP |
| 19 | g.11113638A= | CA2322771958 | LDLR | c.1720A= (p.Ile574=) c.1462A= (p.Ile488=) c.1342A= (p.Ile448=) c.1716A= c.958A= (p.Ile320=) c.1339A= (p.Ile447=) c.1081A= (p.Ile361=) c.183A= n.1612A= n.1579A= | |
| 19 | g.11113638A>C | CA404086191 | LDLR | c.1720A>C (p.Ile574Leu) c.1462A>C (p.Ile488Leu) c.1342A>C (p.Ile448Leu) c.1716A>C c.958A>C (p.Ile320Leu) c.1339A>C (p.Ile447Leu) c.1081A>C (p.Ile361Leu) c.183A>C n.1612A>C n.1579A>C | |
| 19 | g.11113638A>G | CA404086194 | LDLR | c.1720A>G (p.Ile574Val) c.1462A>G (p.Ile488Val) c.1342A>G (p.Ile448Val) c.1716A>G c.958A>G (p.Ile320Val) c.1339A>G (p.Ile447Val) c.1081A>G (p.Ile361Val) c.183A>G n.1612A>G n.1579A>G | |
| 19 | g.11113638A>T | CA404086197 | LDLR | c.1720A>T (p.Ile574Phe) c.1462A>T (p.Ile488Phe) c.1342A>T (p.Ile448Phe) c.1716A>T c.958A>T (p.Ile320Phe) c.1339A>T (p.Ile447Phe) c.1081A>T (p.Ile361Phe) c.183A>T n.1612A>T n.1579A>T | |
| 19 | g.11113638_11113639insC | CA658799139 | LDLR | c.1720_1721insC (p.Ile574ThrfsTer?) c.1462_1463insC (p.Ile488ThrfsTer?) c.1342_1343insC (p.Ile448ThrfsTer?) c.1716_1717insC c.958_959insC (p.Ile320ThrfsTer?) c.1339_1340insC (p.Ile447ThrfsTer?) c.1081_1082insC (p.Ile361ThrfsTer?) c.183_184insC n.1612_1613insC n.1579_1580insC | ClinVar dbSNP |
| 19 | g.11113639T>A | CA10585466 | LDLR | c.1721T>A (p.Ile574Asn) c.1463T>A (p.Ile488Asn) c.1343T>A (p.Ile448Asn) c.1717T>A c.959T>A (p.Ile320Asn) c.1340T>A (p.Ile447Asn) c.1082T>A (p.Ile361Asn) c.184T>A n.1613T>A n.1580T>A | ClinVar dbSNP gnomAD v4 |
| 19 | g.11113639T>C | CA10585467 | LDLR | c.1721T>C (p.Ile574Thr) c.1463T>C (p.Ile488Thr) c.1343T>C (p.Ile448Thr) c.1717T>C c.959T>C (p.Ile320Thr) c.1340T>C (p.Ile447Thr) c.1082T>C (p.Ile361Thr) c.184T>C n.1613T>C n.1580T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.11113639T>G | CA10585468 | LDLR | c.1721T>G (p.Ile574Ser) c.1463T>G (p.Ile488Ser) c.1343T>G (p.Ile448Ser) c.1717T>G c.959T>G (p.Ile320Ser) c.1340T>G (p.Ile447Ser) c.1082T>G (p.Ile361Ser) c.184T>G n.1613T>G n.1580T>G | ClinVar dbSNP |
| 19 | g.11113639T= | CA2322771959 | LDLR | c.1721T= (p.Ile574=) c.1463T= (p.Ile488=) c.1343T= (p.Ile448=) c.1717T= c.959T= (p.Ile320=) c.1340T= (p.Ile447=) c.1082T= (p.Ile361=) c.184T= n.1613T= n.1580T= | |
| 19 | g.11113640_11113641del | CA2580096442 | LDLR | c.1722_1723del (p.Tyr575LeufsTer?) c.1464_1465del (p.Tyr489LeufsTer?) c.1344_1345del (p.Tyr449LeufsTer?) c.1718_1719del c.960_961del (p.Tyr321LeufsTer?) c.1341_1342del (p.Tyr448LeufsTer?) c.1083_1084del (p.Tyr362LeufsTer?) c.185_186del n.1614_1615del n.1581_1582del | ClinVar |
| 19 | g.11113640C>A | CA505743152 | LDLR | c.1722C>A (p.Ile574=) c.1464C>A (p.Ile488=) c.1344C>A (p.Ile448=) c.1718C>A c.960C>A (p.Ile320=) c.1341C>A (p.Ile447=) c.1083C>A (p.Ile361=) c.185C>A n.1614C>A n.1581C>A | gnomAD v4 |
| 19 | g.11113640C= | CA2322771960 | LDLR | c.1722C= (p.Ile574=) c.1464C= (p.Ile488=) c.1344C= (p.Ile448=) c.1718C= c.960C= (p.Ile320=) c.1341C= (p.Ile447=) c.1083C= (p.Ile361=) c.185C= n.1614C= n.1581C= | |
| 19 | g.11113640C>G | CA305300112 | LDLR | c.1722C>G (p.Ile574Met) c.1464C>G (p.Ile488Met) c.1344C>G (p.Ile448Met) c.1718C>G c.960C>G (p.Ile320Met) c.1341C>G (p.Ile447Met) c.1083C>G (p.Ile361Met) c.185C>G n.1614C>G n.1581C>G | dbSNP gnomAD v4 |
| 19 | g.11113640C>T | CA505743154 | LDLR | c.1722C>T (p.Ile574=) c.1464C>T (p.Ile488=) c.1344C>T (p.Ile448=) c.1718C>T c.960C>T (p.Ile320=) c.1341C>T (p.Ile447=) c.1083C>T (p.Ile361=) c.185C>T n.1614C>T n.1581C>T | |
| 19 | g.11113641T>A | CA404086209 | LDLR | c.1723T>A (p.Tyr575Asn) c.1465T>A (p.Tyr489Asn) c.1345T>A (p.Tyr449Asn) c.1719T>A c.961T>A (p.Tyr321Asn) c.1342T>A (p.Tyr448Asn) c.1084T>A (p.Tyr362Asn) c.186T>A n.1615T>A n.1582T>A | |
| 19 | g.11113641T>C | CA404086210 | LDLR | c.1723T>C (p.Tyr575His) c.1465T>C (p.Tyr489His) c.1345T>C (p.Tyr449His) c.1719T>C c.961T>C (p.Tyr321His) c.1342T>C (p.Tyr448His) c.1084T>C (p.Tyr362His) c.186T>C n.1615T>C n.1582T>C | |
| 19 | g.11113641T>G | CA404086211 | LDLR | c.1723T>G (p.Tyr575Asp) c.1465T>G (p.Tyr489Asp) c.1345T>G (p.Tyr449Asp) c.1719T>G c.961T>G (p.Tyr321Asp) c.1342T>G (p.Tyr448Asp) c.1084T>G (p.Tyr362Asp) c.186T>G n.1615T>G n.1582T>G | |
| 19 | g.11113642A= | CA2322771961 | LDLR | c.1724A= (p.Tyr575=) c.1466A= (p.Tyr489=) c.1346A= (p.Tyr449=) c.1720A= c.962A= (p.Tyr321=) c.1343A= (p.Tyr448=) c.1085A= (p.Tyr362=) c.187A= n.1616A= n.1583A= | |
| 19 | g.11113642A>C | CA404086218 | LDLR | c.1724A>C (p.Tyr575Ser) c.1466A>C (p.Tyr489Ser) c.1346A>C (p.Tyr449Ser) c.1720A>C c.962A>C (p.Tyr321Ser) c.1343A>C (p.Tyr448Ser) c.1085A>C (p.Tyr362Ser) c.187A>C n.1616A>C n.1583A>C | |
| 19 | g.11113642A>G | CA10585469 | LDLR | c.1724A>G (p.Tyr575Cys) c.1466A>G (p.Tyr489Cys) c.1346A>G (p.Tyr449Cys) c.1720A>G c.962A>G (p.Tyr321Cys) c.1343A>G (p.Tyr448Cys) c.1085A>G (p.Tyr362Cys) c.187A>G n.1616A>G n.1583A>G | ClinVar dbSNP |
| 19 | g.11113642A>T | CA404086215 | LDLR | c.1724A>T (p.Tyr575Phe) c.1466A>T (p.Tyr489Phe) c.1346A>T (p.Tyr449Phe) c.1720A>T c.962A>T (p.Tyr321Phe) c.1343A>T (p.Tyr448Phe) c.1085A>T (p.Tyr362Phe) c.187A>T n.1616A>T n.1583A>T | |
| 19 | g.11113643C>A | CA404086227 | LDLR | c.1725C>A (p.Tyr575Ter) c.1467C>A (p.Tyr489Ter) c.1347C>A (p.Tyr449Ter) c.1721C>A c.963C>A (p.Tyr321Ter) c.1344C>A (p.Tyr448Ter) c.1086C>A (p.Tyr362Ter) c.188C>A n.1617C>A n.1584C>A | ClinVar dbSNP |
| 19 | g.11113643C= | CA2322771962 | LDLR | c.1725C= (p.Tyr575=) c.1467C= (p.Tyr489=) c.1347C= (p.Tyr449=) c.1721C= c.963C= (p.Tyr321=) c.1344C= (p.Tyr448=) c.1086C= (p.Tyr362=) c.188C= n.1617C= n.1584C= | |
| 19 | g.11113643C>G | CA023505 | LDLR | c.1725C>G (p.Tyr575Ter) c.1467C>G (p.Tyr489Ter) c.1347C>G (p.Tyr449Ter) c.1721C>G c.963C>G (p.Tyr321Ter) c.1344C>G (p.Tyr448Ter) c.1086C>G (p.Tyr362Ter) c.188C>G n.1617C>G n.1584C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.11113643C>T | CA505743158 | LDLR | c.1725C>T (p.Tyr575=) c.1467C>T (p.Tyr489=) c.1347C>T (p.Tyr449=) c.1721C>T c.963C>T (p.Tyr321=) c.1344C>T (p.Tyr448=) c.1086C>T (p.Tyr362=) c.188C>T n.1617C>T n.1584C>T | ClinVar dbSNP |
| 19 | g.11113644T>A | CA404086231 | LDLR | c.1726T>A (p.Trp576Arg) c.1468T>A (p.Trp490Arg) c.1348T>A (p.Trp450Arg) c.1722T>A c.964T>A (p.Trp322Arg) c.1345T>A (p.Trp449Arg) c.1087T>A (p.Trp363Arg) c.189T>A n.1618T>A n.1585T>A | |
| 19 | g.11113644T>C | CA023507 | LDLR | c.1726T>C (p.Trp576Arg) c.1468T>C (p.Trp490Arg) c.1348T>C (p.Trp450Arg) c.1722T>C c.964T>C (p.Trp322Arg) c.1345T>C (p.Trp449Arg) c.1087T>C (p.Trp363Arg) c.189T>C n.1618T>C n.1585T>C | ClinVar dbSNP |
| 19 | g.11113644T>G | CA10585470 | LDLR | c.1726T>G (p.Trp576Gly) c.1468T>G (p.Trp490Gly) c.1348T>G (p.Trp450Gly) c.1722T>G c.964T>G (p.Trp322Gly) c.1345T>G (p.Trp449Gly) c.1087T>G (p.Trp363Gly) c.189T>G n.1618T>G n.1585T>G | ClinVar dbSNP |
| 19 | g.11113644T= | CA2322771963 | LDLR | c.1726T= (p.Trp576=) c.1468T= (p.Trp490=) c.1348T= (p.Trp450=) c.1722T= c.964T= (p.Trp322=) c.1345T= (p.Trp449=) c.1087T= (p.Trp363=) c.189T= n.1618T= n.1585T= | |
| 19 | g.11113645G>A | CA10576307 | LDLR | c.1727G>A (p.Trp576Ter) c.1469G>A (p.Trp490Ter) c.1349G>A (p.Trp450Ter) c.1723G>A c.965G>A (p.Trp322Ter) c.1346G>A (p.Trp449Ter) c.1088G>A (p.Trp363Ter) c.190G>A n.1619G>A n.1586G>A | ClinVar dbSNP |
| 19 | g.11113645G>C | CA404086238 | LDLR | c.1727G>C (p.Trp576Ser) c.1469G>C (p.Trp490Ser) c.1349G>C (p.Trp450Ser) c.1723G>C c.965G>C (p.Trp322Ser) c.1346G>C (p.Trp449Ser) c.1088G>C (p.Trp363Ser) c.190G>C n.1619G>C n.1586G>C | |
| 19 | g.11113645G= | CA2322771964 | LDLR | c.1727G= (p.Trp576=) c.1469G= (p.Trp490=) c.1349G= (p.Trp450=) c.1723G= c.965G= (p.Trp322=) c.1346G= (p.Trp449=) c.1088G= (p.Trp363=) c.190G= n.1619G= n.1586G= | |
| 19 | g.11113645G>T | CA10576308 | LDLR | c.1727G>T (p.Trp576Leu) c.1469G>T (p.Trp490Leu) c.1349G>T (p.Trp450Leu) c.1723G>T c.965G>T (p.Trp322Leu) c.1346G>T (p.Trp449Leu) c.1088G>T (p.Trp363Leu) c.190G>T n.1619G>T n.1586G>T | ClinVar dbSNP |
| 19 | g.11113646G>A | CA10585471 | LDLR | c.1728G>A (p.Trp576Ter) c.1470G>A (p.Trp490Ter) c.1350G>A (p.Trp450Ter) c.1724G>A c.966G>A (p.Trp322Ter) c.1347G>A (p.Trp449Ter) c.1089G>A (p.Trp363Ter) c.191G>A n.1620G>A n.1587G>A | ClinVar dbSNP |
| 19 | g.11113646G>C | CA404086245 | LDLR | c.1728G>C (p.Trp576Cys) c.1470G>C (p.Trp490Cys) c.1350G>C (p.Trp450Cys) c.1724G>C c.966G>C (p.Trp322Cys) c.1347G>C (p.Trp449Cys) c.1089G>C (p.Trp363Cys) c.191G>C n.1620G>C n.1587G>C | ClinVar dbSNP |
| 19 | g.11113646G= | CA2322771965 | LDLR | c.1728G= (p.Trp576=) c.1470G= (p.Trp490=) c.1350G= (p.Trp450=) c.1724G= c.966G= (p.Trp322=) c.1347G= (p.Trp449=) c.1089G= (p.Trp363=) c.191G= n.1620G= n.1587G= | |
| 19 | g.11113646G>T | CA404086248 | LDLR | c.1728G>T (p.Trp576Cys) c.1470G>T (p.Trp490Cys) c.1350G>T (p.Trp450Cys) c.1724G>T c.966G>T (p.Trp322Cys) c.1347G>T (p.Trp449Cys) c.1089G>T (p.Trp363Cys) c.191G>T n.1620G>T n.1587G>T | ClinVar gnomAD v4 |
| 19 | g.11113647A>C | CA404086257 | LDLR | c.1729A>C (p.Thr577Pro) c.1471A>C (p.Thr491Pro) c.1351A>C (p.Thr451Pro) c.1725A>C c.967A>C (p.Thr323Pro) c.1348A>C (p.Thr450Pro) c.1090A>C (p.Thr364Pro) c.192A>C n.1621A>C n.1588A>C | |
| 19 | g.11113647A>G | CA404086255 | LDLR | c.1729A>G (p.Thr577Ala) c.1471A>G (p.Thr491Ala) c.1351A>G (p.Thr451Ala) c.1725A>G c.967A>G (p.Thr323Ala) c.1348A>G (p.Thr450Ala) c.1090A>G (p.Thr364Ala) c.192A>G n.1621A>G n.1588A>G | ClinVar |
| 19 | g.11113647A>T | CA404086253 | LDLR | c.1729A>T (p.Thr577Ser) c.1471A>T (p.Thr491Ser) c.1351A>T (p.Thr451Ser) c.1725A>T c.967A>T (p.Thr323Ser) c.1348A>T (p.Thr450Ser) c.1090A>T (p.Thr364Ser) c.192A>T n.1621A>T n.1588A>T | |
| 19 | g.11113647dup | CA10585472 | LDLR | c.1729dup (p.Thr577AsnfsTer?) c.1471dup (p.Thr491AsnfsTer?) c.1351dup (p.Thr451AsnfsTer?) c.1725dup c.967dup (p.Thr323AsnfsTer?) c.1348dup (p.Thr450AsnfsTer?) c.1090dup (p.Thr364AsnfsTer?) c.192dup n.1621dup n.1588dup | ClinVar dbSNP |
| 19 | g.11113648C>A | CA10585473 | LDLR | c.1730C>A (p.Thr577Asn) c.1472C>A (p.Thr491Asn) c.1352C>A (p.Thr451Asn) c.1726C>A c.968C>A (p.Thr323Asn) c.1349C>A (p.Thr450Asn) c.1091C>A (p.Thr364Asn) c.193C>A n.1622C>A n.1589C>A | ClinVar dbSNP gnomAD v4 |
| 19 | g.11113648C= | CA2322771966 | LDLR | c.1730C= (p.Thr577=) c.1472C= (p.Thr491=) c.1352C= (p.Thr451=) c.1726C= c.968C= (p.Thr323=) c.1349C= (p.Thr450=) c.1091C= (p.Thr364=) c.193C= n.1622C= n.1589C= | |
| 19 | g.11113648C>G | CA404086262 | LDLR | c.1730C>G (p.Thr577Ser) c.1472C>G (p.Thr491Ser) c.1352C>G (p.Thr451Ser) c.1726C>G c.968C>G (p.Thr323Ser) c.1349C>G (p.Thr450Ser) c.1091C>G (p.Thr364Ser) c.193C>G n.1622C>G n.1589C>G |