| 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.11113408T>A | CA404085149 | LDLR | c.1575T>A (p.Asn525Lys) c.1317T>A (p.Asn439Lys) c.1197T>A (p.Asn399Lys) c.1571T>A c.813T>A (p.Asn271Lys) c.1194T>A (p.Asn398Lys) c.936T>A (p.Asn312Lys) c.38T>A n.316T>A c.797T>A n.1467T>A n.1434T>A | |
| 19 | g.11113408T>C | CA505743237 | LDLR | c.1575T>C (p.Asn525=) c.1317T>C (p.Asn439=) c.1197T>C (p.Asn399=) c.1571T>C c.813T>C (p.Asn271=) c.1194T>C (p.Asn398=) c.936T>C (p.Asn312=) c.38T>C n.316T>C c.797T>C n.1467T>C n.1434T>C | ClinVar dbSNP |
| 19 | g.11113408T>G | CA10585397 | LDLR | c.1575T>G (p.Asn525Lys) c.1317T>G (p.Asn439Lys) c.1197T>G (p.Asn399Lys) c.1571T>G c.813T>G (p.Asn271Lys) c.1194T>G (p.Asn398Lys) c.936T>G (p.Asn312Lys) c.38T>G n.316T>G c.797T>G n.1467T>G n.1434T>G | ClinVar dbSNP gnomAD v4 |
| 19 | g.11113408T= | CA2322771784 | LDLR | c.1575T= (p.Asn525=) c.1317T= (p.Asn439=) c.1197T= (p.Asn399=) c.1571T= c.813T= (p.Asn271=) c.1194T= (p.Asn398=) c.936T= (p.Asn312=) c.38T= n.316T= c.797T= n.1467T= n.1434T= | |
| 19 | g.11113409A= | CA2322771785 | LDLR | c.1576A= (p.Arg526=) c.1318A= (p.Arg440=) c.1198A= (p.Arg400=) c.1572A= c.814A= (p.Arg272=) c.1195A= (p.Arg399=) c.937A= (p.Arg313=) c.39A= n.317A= c.798A= n.1468A= n.1435A= | |
| 19 | g.11113409A>C | CA505743238 | LDLR | c.1576A>C (p.Arg526=) c.1318A>C (p.Arg440=) c.1198A>C (p.Arg400=) c.1572A>C c.814A>C (p.Arg272=) c.1195A>C (p.Arg399=) c.937A>C (p.Arg313=) c.39A>C n.317A>C c.798A>C n.1468A>C n.1435A>C | |
| 19 | g.11113409A>G | CA10585398 | LDLR | c.1576A>G (p.Arg526Gly) c.1318A>G (p.Arg440Gly) c.1198A>G (p.Arg400Gly) c.1572A>G c.814A>G (p.Arg272Gly) c.1195A>G (p.Arg399Gly) c.937A>G (p.Arg313Gly) c.39A>G n.317A>G c.798A>G n.1468A>G n.1435A>G | ClinVar dbSNP gnomAD v4 |
| 19 | g.11113409A>T | CA404085158 | LDLR | c.1576A>T (p.Arg526Ter) c.1318A>T (p.Arg440Ter) c.1198A>T (p.Arg400Ter) c.1572A>T c.814A>T (p.Arg272Ter) c.1195A>T (p.Arg399Ter) c.937A>T (p.Arg313Ter) c.39A>T n.317A>T c.798A>T n.1468A>T n.1435A>T | |
| 19 | g.11113410G>A | CA404085162 | LDLR | c.1577G>A (p.Arg526Lys) c.1319G>A (p.Arg440Lys) c.1199G>A (p.Arg400Lys) c.1573G>A c.815G>A (p.Arg272Lys) c.1196G>A (p.Arg399Lys) c.938G>A (p.Arg313Lys) c.40G>A n.318G>A c.799G>A n.1469G>A n.1436G>A | |
| 19 | g.11113410G>C | CA404085164 | LDLR | c.1577G>C (p.Arg526Thr) c.1319G>C (p.Arg440Thr) c.1199G>C (p.Arg400Thr) c.1573G>C c.815G>C (p.Arg272Thr) c.1196G>C (p.Arg399Thr) c.938G>C (p.Arg313Thr) c.40G>C n.318G>C c.799G>C n.1469G>C n.1436G>C | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.11113410G= | CA2322771786 | LDLR | c.1577G= (p.Arg526=) c.1319G= (p.Arg440=) c.1199G= (p.Arg400=) c.1573G= c.815G= (p.Arg272=) c.1196G= (p.Arg399=) c.938G= (p.Arg313=) c.40G= n.318G= c.799G= n.1469G= n.1436G= | |
| 19 | g.11113410G>T | CA404085166 | LDLR | c.1577G>T (p.Arg526Ile) c.1319G>T (p.Arg440Ile) c.1199G>T (p.Arg400Ile) c.1573G>T c.815G>T (p.Arg272Ile) c.1196G>T (p.Arg399Ile) c.938G>T (p.Arg313Ile) c.40G>T n.318G>T c.799G>T n.1469G>T n.1436G>T | ClinVar |
| 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.11113411A>C | CA404085170 | LDLR | c.1578A>C (p.Arg526Ser) c.1320A>C (p.Arg440Ser) c.1200A>C (p.Arg400Ser) c.1574A>C c.816A>C (p.Arg272Ser) c.1197A>C (p.Arg399Ser) c.939A>C (p.Arg313Ser) c.41A>C n.319A>C c.800A>C n.1470A>C n.1437A>C | |
| 19 | g.11113411A>G | CA505743239 | LDLR | c.1578A>G (p.Arg526=) c.1320A>G (p.Arg440=) c.1200A>G (p.Arg400=) c.1574A>G c.816A>G (p.Arg272=) c.1197A>G (p.Arg399=) c.939A>G (p.Arg313=) c.41A>G n.319A>G c.800A>G n.1470A>G n.1437A>G | |
| 19 | g.11113411A>T | CA404085174 | LDLR | c.1578A>T (p.Arg526Ser) c.1320A>T (p.Arg440Ser) c.1200A>T (p.Arg400Ser) c.1574A>T c.816A>T (p.Arg272Ser) c.1197A>T (p.Arg399Ser) c.939A>T (p.Arg313Ser) c.41A>T n.319A>T c.800A>T n.1470A>T n.1437A>T | |
| 19 | g.11113412A>C | CA404085175 | LDLR | c.1579A>C (p.Ile527Leu) c.1321A>C (p.Ile441Leu) c.1201A>C (p.Ile401Leu) c.1575A>C c.817A>C (p.Ile273Leu) c.1198A>C (p.Ile400Leu) c.940A>C (p.Ile314Leu) c.42A>C n.320A>C c.801A>C n.1471A>C n.1438A>C | |
| 19 | g.11113412A>G | CA404085179 | LDLR | c.1579A>G (p.Ile527Val) c.1321A>G (p.Ile441Val) c.1201A>G (p.Ile401Val) c.1575A>G c.817A>G (p.Ile273Val) c.1198A>G (p.Ile400Val) c.940A>G (p.Ile314Val) c.42A>G n.320A>G c.801A>G n.1471A>G n.1438A>G | |
| 19 | g.11113412A>T | CA404085177 | LDLR | c.1579A>T (p.Ile527Phe) c.1321A>T (p.Ile441Phe) c.1201A>T (p.Ile401Phe) c.1575A>T c.817A>T (p.Ile273Phe) c.1198A>T (p.Ile400Phe) c.940A>T (p.Ile314Phe) c.42A>T n.320A>T c.801A>T n.1471A>T n.1438A>T | |
| 19 | g.11113413T>A | CA10585399 | LDLR | c.1580T>A (p.Ile527Asn) c.1322T>A (p.Ile441Asn) c.1202T>A (p.Ile401Asn) c.1576T>A c.818T>A (p.Ile273Asn) c.1199T>A (p.Ile400Asn) c.941T>A (p.Ile314Asn) c.43T>A n.321T>A c.802T>A n.1472T>A n.1439T>A | ClinVar dbSNP |
| 19 | g.11113413T>C | CA10585400 | LDLR | c.1580T>C (p.Ile527Thr) c.1322T>C (p.Ile441Thr) c.1202T>C (p.Ile401Thr) c.1576T>C c.818T>C (p.Ile273Thr) c.1199T>C (p.Ile400Thr) c.941T>C (p.Ile314Thr) c.43T>C n.321T>C c.802T>C n.1472T>C n.1439T>C | ClinVar dbSNP |
| 19 | g.11113413T>G | CA404085186 | LDLR | c.1580T>G (p.Ile527Ser) c.1322T>G (p.Ile441Ser) c.1202T>G (p.Ile401Ser) c.1576T>G c.818T>G (p.Ile273Ser) c.1199T>G (p.Ile400Ser) c.941T>G (p.Ile314Ser) c.43T>G n.321T>G c.802T>G n.1472T>G n.1439T>G | |
| 19 | g.11113413T= | CA2322771787 | LDLR | c.1580T= (p.Ile527=) c.1322T= (p.Ile441=) c.1202T= (p.Ile401=) c.1576T= c.818T= (p.Ile273=) c.1199T= (p.Ile400=) c.941T= (p.Ile314=) c.43T= n.321T= c.802T= n.1472T= n.1439T= | |
| 19 | g.11113414C>A | CA505743241 | LDLR | c.1581C>A (p.Ile527=) c.1323C>A (p.Ile441=) c.1203C>A (p.Ile401=) c.1577C>A c.819C>A (p.Ile273=) c.1200C>A (p.Ile400=) c.942C>A (p.Ile314=) c.44C>A n.322C>A c.803C>A n.1473C>A n.1440C>A | ClinVar dbSNP |
| 19 | g.11113414C= | CA2322771788 | LDLR | c.1581C= (p.Ile527=) c.1323C= (p.Ile441=) c.1203C= (p.Ile401=) c.1577C= c.819C= (p.Ile273=) c.1200C= (p.Ile400=) c.942C= (p.Ile314=) c.44C= n.322C= c.803C= n.1473C= n.1440C= | |
| 19 | g.11113414C>G | CA10585401 | LDLR | c.1581C>G (p.Ile527Met) c.1323C>G (p.Ile441Met) c.1203C>G (p.Ile401Met) c.1577C>G c.819C>G (p.Ile273Met) c.1200C>G (p.Ile400Met) c.942C>G (p.Ile314Met) c.44C>G n.322C>G c.803C>G n.1473C>G n.1440C>G | ClinVar dbSNP gnomAD v4 |
| 19 | g.11113414C>T | CA033568 | LDLR | c.1581C>T (p.Ile527=) c.1323C>T (p.Ile441=) c.1203C>T (p.Ile401=) c.1577C>T c.819C>T (p.Ile273=) c.1200C>T (p.Ile400=) c.942C>T (p.Ile314=) c.44C>T n.322C>T c.803C>T n.1473C>T n.1440C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.11113415T>A | CA10585402 | LDLR | c.1582T>A (p.Tyr528Asn) c.1324T>A (p.Tyr442Asn) c.1204T>A (p.Tyr402Asn) c.1578T>A c.820T>A (p.Tyr274Asn) c.1201T>A (p.Tyr401Asn) c.943T>A (p.Tyr315Asn) c.45T>A n.323T>A c.804T>A n.1474T>A n.1441T>A | ClinVar dbSNP |
| 19 | g.11113415T>C | CA10585403 | LDLR | c.1582T>C (p.Tyr528His) c.1324T>C (p.Tyr442His) c.1204T>C (p.Tyr402His) c.1578T>C c.820T>C (p.Tyr274His) c.1201T>C (p.Tyr401His) c.943T>C (p.Tyr315His) c.45T>C n.323T>C c.804T>C n.1474T>C n.1441T>C | ClinVar dbSNP |
| 19 | g.11113415T>G | CA404085201 | LDLR | c.1582T>G (p.Tyr528Asp) c.1324T>G (p.Tyr442Asp) c.1204T>G (p.Tyr402Asp) c.1578T>G c.820T>G (p.Tyr274Asp) c.1201T>G (p.Tyr401Asp) c.943T>G (p.Tyr315Asp) c.45T>G n.323T>G c.804T>G n.1474T>G n.1441T>G | |
| 19 | g.11113415T= | CA2322771789 | LDLR | c.1582T= (p.Tyr528=) c.1324T= (p.Tyr442=) c.1204T= (p.Tyr402=) c.1578T= c.820T= (p.Tyr274=) c.1201T= (p.Tyr401=) c.943T= (p.Tyr315=) c.45T= n.323T= c.804T= n.1474T= n.1441T= | |
| 19 | g.11113416A= | CA2322771790 | LDLR | c.1583A= (p.Tyr528=) c.1325A= (p.Tyr442=) c.1205A= (p.Tyr402=) c.1579A= c.821A= (p.Tyr274=) c.1202A= (p.Tyr401=) c.944A= (p.Tyr315=) c.46A= n.324A= c.805A= n.1475A= n.1442A= | |
| 19 | g.11113416A>C | CA404085207 | LDLR | c.1583A>C (p.Tyr528Ser) c.1325A>C (p.Tyr442Ser) c.1205A>C (p.Tyr402Ser) c.1579A>C c.821A>C (p.Tyr274Ser) c.1202A>C (p.Tyr401Ser) c.944A>C (p.Tyr315Ser) c.46A>C n.324A>C c.805A>C n.1475A>C n.1442A>C | |
| 19 | g.11113416A>G | CA10585404 | LDLR | c.1583A>G (p.Tyr528Cys) c.1325A>G (p.Tyr442Cys) c.1205A>G (p.Tyr402Cys) c.1579A>G c.821A>G (p.Tyr274Cys) c.1202A>G (p.Tyr401Cys) c.944A>G (p.Tyr315Cys) c.46A>G n.324A>G c.805A>G n.1475A>G n.1442A>G | ClinVar dbSNP |
| 19 | g.11113416A>T | CA404085211 | LDLR | c.1583A>T (p.Tyr528Phe) c.1325A>T (p.Tyr442Phe) c.1205A>T (p.Tyr402Phe) c.1579A>T c.821A>T (p.Tyr274Phe) c.1202A>T (p.Tyr401Phe) c.944A>T (p.Tyr315Phe) c.46A>T n.324A>T c.805A>T n.1475A>T n.1442A>T | |
| 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 |