| 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.11113657_11113778del | CA2573050601 | LDLR | c.1739_1844+16del c.1481_1586+16del c.1361_1466+16del c.1735_1840+16del c.977_1082+16del c.1358_1463+16del c.1100_1205+16del c.202_307+16del n.1631_1736+16del n.1598_1703+16del | |
| 19 | g.11113656_11116107del | CA2497030066 | LDLR | c.1738_1858del c.1480_1600del c.1360_1480del c.1734_1854del c.976_1096del c.1357_1477del c.1099_1219del c.201_321del n.1630_1750del n.1597_1717del | |
| 19 | g.11113656_11116108del | CA2573050600 | LDLR | c.1738_1859del c.1480_1601del c.1360_1481del c.1734_1855del c.976_1097del c.1357_1478del c.1099_1220del c.201_322del n.1630_1751del n.1597_1718del | |
| 19 | g.11113683_11113730delinsACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAG | CA2322772000 | LDLR | c.1765_1812delinsACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAG (p.Thr589=) c.1507_1554delinsACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAG (p.Thr503=) c.1387_1434delinsACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAG (p.Thr463=) c.1761_1808delinsACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAG c.1003_1050delinsACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAG (p.Thr335=) c.1384_1431delinsACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAG (p.Thr462=) c.1126_1173delinsACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAG (p.Thr376=) c.228_275delinsACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAG n.1657_1704delinsACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAG n.1624_1671delinsACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAG | |
| 19 | g.11113692_11113738del | CA10585488 | LDLR | c.1774_1820del (p.Val592HisfsTer14) c.1516_1562del (p.Val506HisfsTer14) c.1396_1442del (p.Val466HisfsTer14) c.1770_1816del c.1012_1058del (p.Val338HisfsTer14) c.1393_1439del (p.Val465HisfsTer14) c.1135_1181del (p.Val379HisfsTer14) c.237_283del n.1666_1712del n.1633_1679del | ClinVar dbSNP |
| 19 | g.11113692_11113739del | CA2497030067 | LDLR | c.1774_1821del (p.Val592_Ala607del) c.1516_1563del (p.Val506_Ala521del) c.1396_1443del (p.Val466_Ala481del) c.1770_1817del c.1012_1059del (p.Val338_Ala353del) c.1393_1440del (p.Val465_Ala480del) c.1135_1182del (p.Val379_Ala394del) c.237_284del n.1666_1713del n.1633_1680del | |
| 19 | g.11113694_11114102del | CA2739276500 | LDLR | c.1776_1844+340del c.1518_1586+340del c.1398_1466+340del c.1772_1840+340del c.1014_1082+340del c.1395_1463+340del c.1137_1205+340del c.239_307+340del n.1668_1736+340del n.1635_1703+340del | ClinVar |
| 19 | g.11113705_11113706delinsCG | CA2322772019 | LDLR | c.1787_1788delinsCG (p.Thr596=) c.1529_1530delinsCG (p.Thr510=) c.1409_1410delinsCG (p.Thr470=) c.1783_1784delinsCG c.1025_1026delinsCG (p.Thr342=) c.1406_1407delinsCG (p.Thr469=) c.1148_1149delinsCG (p.Thr383=) c.250_251delinsCG n.1679_1680delinsCG n.1646_1647delinsCG | |
| 19 | g.11113706del | CA645373233 | LDLR | c.1788del (p.Leu597TyrfsTer?) c.1530del (p.Leu511TyrfsTer?) c.1410del (p.Leu471TyrfsTer?) c.1784del c.1026del (p.Leu343TyrfsTer?) c.1407del (p.Leu470TyrfsTer?) c.1149del (p.Leu384TyrfsTer?) c.251del n.1680del n.1647del | ClinVar dbSNP |
| 19 | g.11113706G>A | CA034680 | LDLR | c.1788G>A (p.Thr596=) c.1530G>A (p.Thr510=) c.1410G>A (p.Thr470=) c.1784G>A c.1026G>A (p.Thr342=) c.1407G>A (p.Thr469=) c.1149G>A (p.Thr383=) c.251G>A n.1680G>A n.1647G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 19 | g.11113706G>C | CA505743299 | LDLR | c.1788G>C (p.Thr596=) c.1530G>C (p.Thr510=) c.1410G>C (p.Thr470=) c.1784G>C c.1026G>C (p.Thr342=) c.1407G>C (p.Thr469=) c.1149G>C (p.Thr383=) c.251G>C n.1680G>C n.1647G>C | |
| 19 | g.11113706G= | CA2322772020 | LDLR | c.1788G= (p.Thr596=) c.1530G= (p.Thr510=) c.1410G= (p.Thr470=) c.1784G= c.1026G= (p.Thr342=) c.1407G= (p.Thr469=) c.1149G= (p.Thr383=) c.251G= n.1680G= n.1647G= | |
| 19 | g.11113706G>T | CA505743300 | LDLR | c.1788G>T (p.Thr596=) c.1530G>T (p.Thr510=) c.1410G>T (p.Thr470=) c.1784G>T c.1026G>T (p.Thr342=) c.1407G>T (p.Thr469=) c.1149G>T (p.Thr383=) c.251G>T n.1680G>T n.1647G>T | |
| 19 | g.11113706_11113708del | CA2497030069 | LDLR | c.1788_1790del (p.Leu597del) c.1530_1532del (p.Leu511del) c.1410_1412del (p.Leu471del) c.1784_1786del c.1026_1028del (p.Leu343del) c.1407_1409del (p.Leu470del) c.1149_1151del (p.Leu384del) c.251_253del n.1680_1682del n.1647_1649del | |
| 19 | g.11113707T>A | CA404086526 | LDLR | c.1789T>A (p.Leu597Ile) c.1531T>A (p.Leu511Ile) c.1411T>A (p.Leu471Ile) c.1785T>A c.1027T>A (p.Leu343Ile) c.1408T>A (p.Leu470Ile) c.1150T>A (p.Leu384Ile) c.252T>A n.1681T>A n.1648T>A | |
| 19 | g.11113707T>C | CA505743301 | LDLR | c.1789T>C (p.Leu597=) c.1531T>C (p.Leu511=) c.1411T>C (p.Leu471=) c.1785T>C c.1027T>C (p.Leu343=) c.1408T>C (p.Leu470=) c.1150T>C (p.Leu384=) c.252T>C n.1681T>C n.1648T>C | |
| 19 | g.11113707T>G | CA404086527 | LDLR | c.1789T>G (p.Leu597Val) c.1531T>G (p.Leu511Val) c.1411T>G (p.Leu471Val) c.1785T>G c.1027T>G (p.Leu343Val) c.1408T>G (p.Leu470Val) c.1150T>G (p.Leu384Val) c.252T>G n.1681T>G n.1648T>G | |
| 19 | g.11113707_11113708dup | CA2499225322 | LDLR | c.1789_1790dup (p.Leu597PhefsTer?) c.1531_1532dup (p.Leu511PhefsTer?) c.1411_1412dup (p.Leu471PhefsTer?) c.1785_1786dup c.1027_1028dup (p.Leu343PhefsTer?) c.1408_1409dup (p.Leu470PhefsTer?) c.1150_1151dup (p.Leu384PhefsTer?) c.252_253dup n.1681_1682dup n.1648_1649dup | ClinVar dbSNP |
| 19 | g.11113708T>A | CA404086528 | LDLR | c.1790T>A (p.Leu597Ter) c.1532T>A (p.Leu511Ter) c.1412T>A (p.Leu471Ter) c.1786T>A c.1028T>A (p.Leu343Ter) c.1409T>A (p.Leu470Ter) c.1151T>A (p.Leu384Ter) c.253T>A n.1682T>A n.1649T>A | |
| 19 | g.11113708T>C | CA10585493 | LDLR | c.1790T>C (p.Leu597Ser) c.1532T>C (p.Leu511Ser) c.1412T>C (p.Leu471Ser) c.1786T>C c.1028T>C (p.Leu343Ser) c.1409T>C (p.Leu470Ser) c.1151T>C (p.Leu384Ser) c.253T>C n.1682T>C n.1649T>C | ClinVar dbSNP |
| 19 | g.11113708T>G | CA10585494 | LDLR | c.1790T>G (p.Leu597Ter) c.1532T>G (p.Leu511Ter) c.1412T>G (p.Leu471Ter) c.1786T>G c.1028T>G (p.Leu343Ter) c.1409T>G (p.Leu470Ter) c.1151T>G (p.Leu384Ter) c.253T>G n.1682T>G n.1649T>G | ClinVar dbSNP |
| 19 | g.11113708T= | CA2322772021 | LDLR | c.1790T= (p.Leu597=) c.1532T= (p.Leu511=) c.1412T= (p.Leu471=) c.1786T= c.1028T= (p.Leu343=) c.1409T= (p.Leu470=) c.1151T= (p.Leu384=) c.253T= n.1682T= n.1649T= | |
| 19 | g.11113709A= | CA2322772022 | LDLR | c.1791A= (p.Leu597=) c.1533A= (p.Leu511=) c.1413A= (p.Leu471=) c.1787A= c.1029A= (p.Leu343=) c.1410A= (p.Leu470=) c.1152A= (p.Leu384=) c.254A= n.1683A= n.1650A= | |
| 19 | g.11113709A>C | CA404086530 | LDLR | c.1791A>C (p.Leu597Phe) c.1533A>C (p.Leu511Phe) c.1413A>C (p.Leu471Phe) c.1787A>C c.1029A>C (p.Leu343Phe) c.1410A>C (p.Leu470Phe) c.1152A>C (p.Leu384Phe) c.254A>C n.1683A>C n.1650A>C | |
| 19 | g.11113709A>G | CA505743302 | LDLR | c.1791A>G (p.Leu597=) c.1533A>G (p.Leu511=) c.1413A>G (p.Leu471=) c.1787A>G c.1029A>G (p.Leu343=) c.1410A>G (p.Leu470=) c.1152A>G (p.Leu384=) c.254A>G n.1683A>G n.1650A>G | ClinVar dbSNP |
| 19 | g.11113709A>T | CA404086529 | LDLR | c.1791A>T (p.Leu597Phe) c.1533A>T (p.Leu511Phe) c.1413A>T (p.Leu471Phe) c.1787A>T c.1029A>T (p.Leu343Phe) c.1410A>T (p.Leu470Phe) c.1152A>T (p.Leu384Phe) c.254A>T n.1683A>T n.1650A>T | ClinVar dbSNP |
| 19 | g.11113709dup | CA10585495 | LDLR | c.1791dup (p.Phe598IlefsTer24) c.1533dup (p.Phe512IlefsTer24) c.1413dup (p.Phe472IlefsTer24) c.1787dup c.1029dup (p.Phe344IlefsTer24) c.1410dup (p.Phe471IlefsTer24) c.1152dup (p.Phe385IlefsTer24) c.254dup n.1683dup n.1650dup | ClinVar dbSNP |
| 19 | g.11113710T>A | CA404086531 | LDLR | c.1792T>A (p.Phe598Ile) c.1534T>A (p.Phe512Ile) c.1414T>A (p.Phe472Ile) c.1788T>A c.1030T>A (p.Phe344Ile) c.1411T>A (p.Phe471Ile) c.1153T>A (p.Phe385Ile) c.255T>A n.1684T>A n.1651T>A | |
| 19 | g.11113710T>C | CA404086532 | LDLR | c.1792T>C (p.Phe598Leu) c.1534T>C (p.Phe512Leu) c.1414T>C (p.Phe472Leu) c.1788T>C c.1030T>C (p.Phe344Leu) c.1411T>C (p.Phe471Leu) c.1153T>C (p.Phe385Leu) c.255T>C n.1684T>C n.1651T>C | |
| 19 | g.11113710T>G | CA404086533 | LDLR | c.1792T>G (p.Phe598Val) c.1534T>G (p.Phe512Val) c.1414T>G (p.Phe472Val) c.1788T>G c.1030T>G (p.Phe344Val) c.1411T>G (p.Phe471Val) c.1153T>G (p.Phe385Val) c.255T>G n.1684T>G n.1651T>G | |
| 19 | g.11113711T>A | CA404086534 | LDLR | c.1793T>A (p.Phe598Tyr) c.1535T>A (p.Phe512Tyr) c.1415T>A (p.Phe472Tyr) c.1789T>A c.1031T>A (p.Phe344Tyr) c.1412T>A (p.Phe471Tyr) c.1154T>A (p.Phe385Tyr) c.256T>A n.1685T>A n.1652T>A | |
| 19 | g.11113711T>C | CA404086535 | LDLR | c.1793T>C (p.Phe598Ser) c.1535T>C (p.Phe512Ser) c.1415T>C (p.Phe472Ser) c.1789T>C c.1031T>C (p.Phe344Ser) c.1412T>C (p.Phe471Ser) c.1154T>C (p.Phe385Ser) c.256T>C n.1685T>C n.1652T>C | gnomAD v4 |
| 19 | g.11113711T>G | CA404086536 | LDLR | c.1793T>G (p.Phe598Cys) c.1535T>G (p.Phe512Cys) c.1415T>G (p.Phe472Cys) c.1789T>G c.1031T>G (p.Phe344Cys) c.1412T>G (p.Phe471Cys) c.1154T>G (p.Phe385Cys) c.256T>G n.1685T>G n.1652T>G | |
| 19 | g.11113712C>A | CA404086537 | LDLR | c.1794C>A (p.Phe598Leu) c.1536C>A (p.Phe512Leu) c.1416C>A (p.Phe472Leu) c.1790C>A c.1032C>A (p.Phe344Leu) c.1413C>A (p.Phe471Leu) c.1155C>A (p.Phe385Leu) c.257C>A n.1686C>A n.1653C>A | |
| 19 | g.11113712C>G | CA404086538 | LDLR | c.1794C>G (p.Phe598Leu) c.1536C>G (p.Phe512Leu) c.1416C>G (p.Phe472Leu) c.1790C>G c.1032C>G (p.Phe344Leu) c.1413C>G (p.Phe471Leu) c.1155C>G (p.Phe385Leu) c.257C>G n.1686C>G n.1653C>G | dbSNP |
| 19 | g.11113712C>T | CA505743303 | LDLR | c.1794C>T (p.Phe598=) c.1536C>T (p.Phe512=) c.1416C>T (p.Phe472=) c.1790C>T c.1032C>T (p.Phe344=) c.1413C>T (p.Phe471=) c.1155C>T (p.Phe385=) c.257C>T n.1686C>T n.1653C>T | gnomAD v4 |
| 19 | g.11113713A= | CA2322772023 | LDLR | c.1795A= (p.Arg599=) c.1537A= (p.Arg513=) c.1417A= (p.Arg473=) c.1791A= c.1033A= (p.Arg345=) c.1414A= (p.Arg472=) c.1156A= (p.Arg386=) c.258A= n.1687A= n.1654A= | |
| 19 | g.11113713A>C | CA505743304 | LDLR | c.1795A>C (p.Arg599=) c.1537A>C (p.Arg513=) c.1417A>C (p.Arg473=) c.1791A>C c.1033A>C (p.Arg345=) c.1414A>C (p.Arg472=) c.1156A>C (p.Arg386=) c.258A>C n.1687A>C n.1654A>C | |
| 19 | g.11113713A>G | CA404086539 | LDLR | c.1795A>G (p.Arg599Gly) c.1537A>G (p.Arg513Gly) c.1417A>G (p.Arg473Gly) c.1791A>G c.1033A>G (p.Arg345Gly) c.1414A>G (p.Arg472Gly) c.1156A>G (p.Arg386Gly) c.258A>G n.1687A>G n.1654A>G | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.11113713A>T | CA404086540 | LDLR | c.1795A>T (p.Arg599Trp) c.1537A>T (p.Arg513Trp) c.1417A>T (p.Arg473Trp) c.1791A>T c.1033A>T (p.Arg345Trp) c.1414A>T (p.Arg472Trp) c.1156A>T (p.Arg386Trp) c.258A>T n.1687A>T n.1654A>T | |
| 19 | g.11113714G>A | CA10585496 | LDLR | c.1796G>A (p.Arg599Lys) c.1538G>A (p.Arg513Lys) c.1418G>A (p.Arg473Lys) c.1792G>A c.1034G>A (p.Arg345Lys) c.1415G>A (p.Arg472Lys) c.1157G>A (p.Arg386Lys) c.259G>A n.1688G>A n.1655G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.11113714G>C | CA404086541 | LDLR | c.1796G>C (p.Arg599Thr) c.1538G>C (p.Arg513Thr) c.1418G>C (p.Arg473Thr) c.1792G>C c.1034G>C (p.Arg345Thr) c.1415G>C (p.Arg472Thr) c.1157G>C (p.Arg386Thr) c.259G>C n.1688G>C n.1655G>C | |
| 19 | g.11113714G= | CA2322772024 | LDLR | c.1796G= (p.Arg599=) c.1538G= (p.Arg513=) c.1418G= (p.Arg473=) c.1792G= c.1034G= (p.Arg345=) c.1415G= (p.Arg472=) c.1157G= (p.Arg386=) c.259G= n.1688G= n.1655G= | |
| 19 | g.11113714G>T | CA404086542 | LDLR | c.1796G>T (p.Arg599Met) c.1538G>T (p.Arg513Met) c.1418G>T (p.Arg473Met) c.1792G>T c.1034G>T (p.Arg345Met) c.1415G>T (p.Arg472Met) c.1157G>T (p.Arg386Met) c.259G>T n.1688G>T n.1655G>T | |
| 19 | g.11113716del | CA2695228118 | LDLR | c.1798del (p.Glu600ArgfsTer?) c.1540del (p.Glu514ArgfsTer?) c.1420del (p.Glu474ArgfsTer?) c.1794del c.1036del (p.Glu346ArgfsTer?) c.1417del (p.Glu473ArgfsTer?) c.1159del (p.Glu387ArgfsTer?) c.261del n.1690del n.1657del | |
| 19 | g.11113715G>A | CA505743305 | LDLR | c.1797G>A (p.Arg599=) c.1539G>A (p.Arg513=) c.1419G>A (p.Arg473=) c.1793G>A c.1035G>A (p.Arg345=) c.1416G>A (p.Arg472=) c.1158G>A (p.Arg386=) c.260G>A n.1689G>A n.1656G>A |