| 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.11113593_11113607del | CA10585443 | LDLR | c.1675_1689del (p.Ile559_Asp563del) c.1417_1431del (p.Ile473_Asp477del) c.1297_1311del (p.Ile433_Asp437del) c.1671_1685del c.913_927del (p.Ile305_Asp309del) c.1294_1308del (p.Ile432_Asp436del) c.1036_1050del (p.Ile346_Asp350del) c.138_152del c.897_911del n.1567_1581del n.1534_1548del | ClinVar dbSNP |
| 19 | g.11113594_11113608del | CA2697556258 | LDLR | c.1676_1690del (p.Ile559_Gly564delinsArg) c.1418_1432del (p.Ile473_Gly478delinsArg) c.1298_1312del (p.Ile433_Gly438delinsArg) c.1672_1686del c.914_928del (p.Ile305_Gly310delinsArg) c.1295_1309del (p.Ile432_Gly437delinsArg) c.1037_1051del (p.Ile346_Gly351delinsArg) c.139_153del c.898_912del n.1568_1582del n.1535_1549del | ClinVar |
| 19 | g.11113604_11113607delinsTTT | CA2573320723 | LDLR | c.1686_1689delinsTTT (p.Asp563LeufsTer30) c.1428_1431delinsTTT (p.Asp477LeufsTer30) c.1308_1311delinsTTT (p.Asp437LeufsTer30) c.1682_1685delinsTTT c.924_927delinsTTT (p.Asp309LeufsTer30) c.1305_1308delinsTTT (p.Asp436LeufsTer30) c.1047_1050delinsTTT (p.Asp350LeufsTer30) c.149_152delinsTTT c.908_911delinsTTT n.1578_1581delinsTTT n.1545_1548delinsTTT | |
| 19 | g.11113605G>A | CA034365 | LDLR | c.1687G>A (p.Asp563Asn) c.1429G>A (p.Asp477Asn) c.1309G>A (p.Asp437Asn) c.1683G>A c.925G>A (p.Asp309Asn) c.1306G>A (p.Asp436Asn) c.1048G>A (p.Asp350Asn) c.150G>A c.909G>A n.1579G>A n.1546G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 19 | g.11113605G>C | CA404085974 | LDLR | c.1687G>C (p.Asp563His) c.1429G>C (p.Asp477His) c.1309G>C (p.Asp437His) c.1683G>C c.925G>C (p.Asp309His) c.1306G>C (p.Asp436His) c.1048G>C (p.Asp350His) c.150G>C c.909G>C n.1579G>C n.1546G>C | |
| 19 | g.11113605G= | CA2322771931 | LDLR | c.1687G= (p.Asp563=) c.1429G= (p.Asp477=) c.1309G= (p.Asp437=) c.1683G= c.925G= (p.Asp309=) c.1306G= (p.Asp436=) c.1048G= (p.Asp350=) c.150G= c.909G= n.1579G= n.1546G= | |
| 19 | g.11113605G>T | CA404085970 | LDLR | c.1687G>T (p.Asp563Tyr) c.1429G>T (p.Asp477Tyr) c.1309G>T (p.Asp437Tyr) c.1683G>T c.925G>T (p.Asp309Tyr) c.1306G>T (p.Asp436Tyr) c.1048G>T (p.Asp350Tyr) c.150G>T c.909G>T n.1579G>T n.1546G>T | |
| 19 | g.11113606A>C | CA404085975 | LDLR | c.1688A>C (p.Asp563Ala) c.1430A>C (p.Asp477Ala) c.1310A>C (p.Asp437Ala) c.1684A>C c.926A>C (p.Asp309Ala) c.1307A>C (p.Asp436Ala) c.1049A>C (p.Asp350Ala) c.151A>C c.910A>C n.1580A>C n.1547A>C | |
| 19 | g.11113606A>G | CA404085976 | LDLR | c.1688A>G (p.Asp563Gly) c.1430A>G (p.Asp477Gly) c.1310A>G (p.Asp437Gly) c.1684A>G c.926A>G (p.Asp309Gly) c.1307A>G (p.Asp436Gly) c.1049A>G (p.Asp350Gly) c.151A>G c.910A>G n.1580A>G n.1547A>G | |
| 19 | g.11113606A>T | CA404085978 | LDLR | c.1688A>T (p.Asp563Val) c.1430A>T (p.Asp477Val) c.1310A>T (p.Asp437Val) c.1684A>T c.926A>T (p.Asp309Val) c.1307A>T (p.Asp436Val) c.1049A>T (p.Asp350Val) c.151A>T c.910A>T n.1580A>T n.1547A>T | |
| 19 | g.11113607C>A | CA404085980 | LDLR | c.1689C>A (p.Asp563Glu) c.1431C>A (p.Asp477Glu) c.1311C>A (p.Asp437Glu) c.1685C>A c.927C>A (p.Asp309Glu) c.1308C>A (p.Asp436Glu) c.1050C>A (p.Asp350Glu) c.152C>A c.911C>A n.1581C>A n.1548C>A | dbSNP |
| 19 | g.11113607C= | CA2322771932 | LDLR | c.1689C= (p.Asp563=) c.1431C= (p.Asp477=) c.1311C= (p.Asp437=) c.1685C= c.927C= (p.Asp309=) c.1308C= (p.Asp436=) c.1050C= (p.Asp350=) c.152C= c.911C= n.1581C= n.1548C= | |
| 19 | g.11113607C>G | CA305300102 | LDLR | c.1689C>G (p.Asp563Glu) c.1431C>G (p.Asp477Glu) c.1311C>G (p.Asp437Glu) c.1685C>G c.927C>G (p.Asp309Glu) c.1308C>G (p.Asp436Glu) c.1050C>G (p.Asp350Glu) c.152C>G c.911C>G n.1581C>G n.1548C>G | ClinVar dbSNP gnomAD v4 |
| 19 | g.11113607C>T | CA034381 | LDLR | c.1689C>T (p.Asp563=) c.1431C>T (p.Asp477=) c.1311C>T (p.Asp437=) c.1685C>T c.927C>T (p.Asp309=) c.1308C>T (p.Asp436=) c.1050C>T (p.Asp350=) c.152C>T c.911C>T n.1581C>T n.1548C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.11113607_11113608delinsCG | CA2322771933 | LDLR | c.1689_1690delinsCG (p.Asp563=) c.1431_1432delinsCG (p.Asp477=) c.1311_1312delinsCG (p.Asp437=) c.1685_1686delinsCG c.927_928delinsCG (p.Asp309=) c.1308_1309delinsCG (p.Asp436=) c.1050_1051delinsCG (p.Asp350=) c.152_153delinsCG c.911_912delinsCG n.1581_1582delinsCG n.1548_1549delinsCG | |
| 19 | g.11113608G>A | CA023495 | LDLR | c.1690G>A (p.Gly564Arg) c.1432G>A (p.Gly478Arg) c.1312G>A (p.Gly438Arg) c.1686G>A c.928G>A (p.Gly310Arg) c.1309G>A (p.Gly437Arg) c.1051G>A (p.Gly351Arg) c.153G>A c.912G>A n.1582G>A n.1549G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.11113608G>C | CA404085987 | LDLR | c.1690G>C (p.Gly564Arg) c.1432G>C (p.Gly478Arg) c.1312G>C (p.Gly438Arg) c.1686G>C c.928G>C (p.Gly310Arg) c.1309G>C (p.Gly437Arg) c.1051G>C (p.Gly351Arg) c.153G>C c.912G>C n.1582G>C n.1549G>C | |
| 19 | g.11113608G= | CA2322771934 | LDLR | c.1690G= (p.Gly564=) c.1432G= (p.Gly478=) c.1312G= (p.Gly438=) c.1686G= c.928G= (p.Gly310=) c.1309G= (p.Gly437=) c.1051G= (p.Gly351=) c.153G= c.912G= n.1582G= n.1549G= | |
| 19 | g.11113608G>T | CA404085992 | LDLR | c.1690G>T (p.Gly564Trp) c.1432G>T (p.Gly478Trp) c.1312G>T (p.Gly438Trp) c.1686G>T c.928G>T (p.Gly310Trp) c.1309G>T (p.Gly437Trp) c.1051G>T (p.Gly351Trp) c.153G>T c.912G>T n.1582G>T n.1549G>T | ClinVar dbSNP |
| 19 | g.11113610del | CA10585449 | LDLR | c.1692del (p.Leu565TrpfsTer28) c.1434del (p.Leu479TrpfsTer28) c.1314del (p.Leu439TrpfsTer28) c.1688del c.930del (p.Leu311TrpfsTer28) c.1311del (p.Leu438TrpfsTer28) c.1053del (p.Leu352TrpfsTer28) c.155del c.914del n.1584del n.1551del | ClinVar dbSNP |
| 19 | g.11113609G>A | CA404085998 | LDLR | c.1691G>A (p.Gly564Glu) c.1433G>A (p.Gly478Glu) c.1313G>A (p.Gly438Glu) c.1687G>A c.929G>A (p.Gly310Glu) c.1310G>A (p.Gly437Glu) c.1052G>A (p.Gly351Glu) c.154G>A c.913G>A n.1583G>A n.1550G>A | ClinVar dbSNP COSMIC |
| 19 | g.11113609G>C | CA404085999 | LDLR | c.1691G>C (p.Gly564Ala) c.1433G>C (p.Gly478Ala) c.1313G>C (p.Gly438Ala) c.1687G>C c.929G>C (p.Gly310Ala) c.1310G>C (p.Gly437Ala) c.1052G>C (p.Gly351Ala) c.154G>C c.913G>C n.1583G>C n.1550G>C | |
| 19 | g.11113609G= | CA2322771935 | LDLR | c.1691G= (p.Gly564=) c.1433G= (p.Gly478=) c.1313G= (p.Gly438=) c.1687G= c.929G= (p.Gly310=) c.1310G= (p.Gly437=) c.1052G= (p.Gly351=) c.154G= c.913G= n.1583G= n.1550G= | |
| 19 | g.11113609G>T | CA404086003 | LDLR | c.1691G>T (p.Gly564Val) c.1433G>T (p.Gly478Val) c.1313G>T (p.Gly438Val) c.1687G>T c.929G>T (p.Gly310Val) c.1310G>T (p.Gly437Val) c.1052G>T (p.Gly351Val) c.154G>T c.913G>T n.1583G>T n.1550G>T | ClinVar |
| 19 | g.11113610G>A | CA10588895 | LDLR | c.1692G>A (p.Gly564=) c.1434G>A (p.Gly478=) c.1314G>A (p.Gly438=) c.1688G>A c.930G>A (p.Gly310=) c.1311G>A (p.Gly437=) c.1053G>A (p.Gly351=) c.155G>A c.914G>A n.1584G>A n.1551G>A | ClinVar dbSNP |
| 19 | g.11113610G>C | CA505743109 | LDLR | c.1692G>C (p.Gly564=) c.1434G>C (p.Gly478=) c.1314G>C (p.Gly438=) c.1688G>C c.930G>C (p.Gly310=) c.1311G>C (p.Gly437=) c.1053G>C (p.Gly351=) c.155G>C c.914G>C n.1584G>C n.1551G>C | |
| 19 | g.11113610G= | CA2322771937 | LDLR | c.1692G= (p.Gly564=) c.1434G= (p.Gly478=) c.1314G= (p.Gly438=) c.1688G= c.930G= (p.Gly310=) c.1311G= (p.Gly437=) c.1053G= (p.Gly351=) c.155G= c.914G= n.1584G= n.1551G= | |
| 19 | g.11113610G>T | CA505743110 | LDLR | c.1692G>T (p.Gly564=) c.1434G>T (p.Gly478=) c.1314G>T (p.Gly438=) c.1688G>T c.930G>T (p.Gly310=) c.1311G>T (p.Gly437=) c.1053G>T (p.Gly351=) c.155G>T c.914G>T n.1584G>T n.1551G>T | |
| 19 | g.11113610_11113621delinsGCTGGCTGTGGA | CA2322771936 | LDLR | c.1692_1703delinsGCTGGCTGTGGA (p.Gly564=) c.1434_1445delinsGCTGGCTGTGGA (p.Gly478=) c.1314_1325delinsGCTGGCTGTGGA (p.Gly438=) c.1688_1699delinsGCTGGCTGTGGA c.930_941delinsGCTGGCTGTGGA (p.Gly310=) c.1311_1322delinsGCTGGCTGTGGA (p.Gly437=) c.1053_1064delinsGCTGGCTGTGGA (p.Gly351=) c.155_166delinsGCTGGCTGTGGA c.914_925delinsGCTGGCTGTGGA n.1584_1595delinsGCTGGCTGTGGA n.1551_1562delinsGCTGGCTGTGGA | |
| 19 | g.11113610_11113624delinsTCCAGTA | CA2497030064 | LDLR | c.1692_1706delinsTCCAGTA (p.Leu565ProfsTer?) c.1434_1448delinsTCCAGTA (p.Leu479ProfsTer?) c.1314_1328delinsTCCAGTA (p.Leu439ProfsTer?) c.1688_1702delinsTCCAGTA c.930_944delinsTCCAGTA (p.Leu311ProfsTer?) c.1311_1325delinsTCCAGTA (p.Leu438ProfsTer?) c.1053_1067delinsTCCAGTA (p.Leu352ProfsTer?) c.155_169delinsTCCAGTA c.914_928delinsTCCAGTA n.1584_1598delinsTCCAGTA n.1551_1565delinsTCCAGTA | |
| 19 | g.11113611C>A | CA404086009 | LDLR | c.1693C>A (p.Leu565Met) c.1435C>A (p.Leu479Met) c.1315C>A (p.Leu439Met) c.1689C>A c.931C>A (p.Leu311Met) c.1312C>A (p.Leu438Met) c.1054C>A (p.Leu352Met) c.156C>A c.915C>A n.1585C>A n.1552C>A | |
| 19 | g.11113611C= | CA2322771938 | LDLR | c.1693C= (p.Leu565=) c.1435C= (p.Leu479=) c.1315C= (p.Leu439=) c.1689C= c.931C= (p.Leu311=) c.1312C= (p.Leu438=) c.1054C= (p.Leu352=) c.156C= c.915C= n.1585C= n.1552C= | |
| 19 | g.11113611C>G | CA404086017 | LDLR | c.1693C>G (p.Leu565Val) c.1435C>G (p.Leu479Val) c.1315C>G (p.Leu439Val) c.1689C>G c.931C>G (p.Leu311Val) c.1312C>G (p.Leu438Val) c.1054C>G (p.Leu352Val) c.156C>G c.915C>G n.1585C>G n.1552C>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.11113611C>T | CA505743111 | LDLR | c.1693C>T (p.Leu565=) c.1435C>T (p.Leu479=) c.1315C>T (p.Leu439=) c.1689C>T c.931C>T (p.Leu311=) c.1312C>T (p.Leu438=) c.1054C>T (p.Leu352=) c.156C>T c.915C>T n.1585C>T n.1552C>T | ClinVar gnomAD v4 |
| 19 | g.11113615_11113625del | CA10585452 | LDLR | c.1697_1707del (p.Ala566AspfsTer?) c.1439_1449del (p.Ala480AspfsTer?) c.1319_1329del (p.Ala440AspfsTer?) c.1693_1703del c.935_945del (p.Ala312AspfsTer?) c.1316_1326del (p.Ala439AspfsTer?) c.1058_1068del (p.Ala353AspfsTer?) c.160_170del n.1589_1599del n.1556_1566del | ClinVar dbSNP |
| 19 | g.11113612T>A | CA404086021 | LDLR | c.1694T>A (p.Leu565Gln) c.1436T>A (p.Leu479Gln) c.1316T>A (p.Leu439Gln) c.1690T>A c.932T>A (p.Leu311Gln) c.1313T>A (p.Leu438Gln) c.1055T>A (p.Leu352Gln) c.157T>A c.916T>A n.1586T>A n.1553T>A | ClinVar dbSNP |
| 19 | g.11113612T>C | CA10585450 | LDLR | c.1694T>C (p.Leu565Pro) c.1436T>C (p.Leu479Pro) c.1316T>C (p.Leu439Pro) c.1690T>C c.932T>C (p.Leu311Pro) c.1313T>C (p.Leu438Pro) c.1055T>C (p.Leu352Pro) c.157T>C c.916T>C n.1586T>C n.1553T>C | ClinVar dbSNP gnomAD v4 |
| 19 | g.11113612T>G | CA404086026 | LDLR | c.1694T>G (p.Leu565Arg) c.1436T>G (p.Leu479Arg) c.1316T>G (p.Leu439Arg) c.1690T>G c.932T>G (p.Leu311Arg) c.1313T>G (p.Leu438Arg) c.1055T>G (p.Leu352Arg) c.157T>G c.916T>G n.1586T>G n.1553T>G | |
| 19 | g.11113612T= | CA2322771939 | LDLR | c.1694T= (p.Leu565=) c.1436T= (p.Leu479=) c.1316T= (p.Leu439=) c.1690T= c.932T= (p.Leu311=) c.1313T= (p.Leu438=) c.1055T= (p.Leu352=) c.157T= c.916T= n.1586T= n.1553T= | |
| 19 | g.11113613G>A | CA505743116 | LDLR | c.1695G>A (p.Leu565=) c.1437G>A (p.Leu479=) c.1317G>A (p.Leu439=) c.1691G>A c.933G>A (p.Leu311=) c.1314G>A (p.Leu438=) c.1056G>A (p.Leu352=) c.158G>A c.917G>A n.1587G>A n.1554G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.11113613G>C | CA505743118 | LDLR | c.1695G>C (p.Leu565=) c.1437G>C (p.Leu479=) c.1317G>C (p.Leu439=) c.1691G>C c.933G>C (p.Leu311=) c.1314G>C (p.Leu438=) c.1056G>C (p.Leu352=) c.158G>C c.917G>C n.1587G>C n.1554G>C | |
| 19 | g.11113613G= | CA2322771940 | LDLR | c.1695G= (p.Leu565=) c.1437G= (p.Leu479=) c.1317G= (p.Leu439=) c.1691G= c.933G= (p.Leu311=) c.1314G= (p.Leu438=) c.1056G= (p.Leu352=) c.158G= c.917G= n.1587G= n.1554G= | |
| 19 | g.11113613G>T | CA505743117 | LDLR | c.1695G>T (p.Leu565=) c.1437G>T (p.Leu479=) c.1317G>T (p.Leu439=) c.1691G>T c.933G>T (p.Leu311=) c.1314G>T (p.Leu438=) c.1056G>T (p.Leu352=) c.158G>T c.917G>T n.1587G>T n.1554G>T | |
| 19 | g.11113614G>A | CA404086031 | LDLR | c.1696G>A (p.Ala566Thr) c.1438G>A (p.Ala480Thr) c.1318G>A (p.Ala440Thr) c.1692G>A c.934G>A (p.Ala312Thr) c.1315G>A (p.Ala439Thr) c.1057G>A (p.Ala353Thr) c.159G>A c.918G>A n.1588G>A n.1555G>A | ClinVar dbSNP gnomAD v4 |
| 19 | g.11113614G>C | CA10585451 | LDLR | c.1696G>C (p.Ala566Pro) c.1438G>C (p.Ala480Pro) c.1318G>C (p.Ala440Pro) c.1692G>C c.934G>C (p.Ala312Pro) c.1315G>C (p.Ala439Pro) c.1057G>C (p.Ala353Pro) c.159G>C c.918G>C n.1588G>C n.1555G>C | ClinVar dbSNP |
| 19 | g.11113614G= | CA2322771941 | LDLR | c.1696G= (p.Ala566=) c.1438G= (p.Ala480=) c.1318G= (p.Ala440=) c.1692G= c.934G= (p.Ala312=) c.1315G= (p.Ala439=) c.1057G= (p.Ala353=) c.159G= c.918G= n.1588G= n.1555G= |