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.11113589_11113604delinsAGACATCCAGGCCCCC | CA2322771917 | LDLR | c.1671_1686delinsAGACATCCAGGCCCCC (p.Arg557=) c.1413_1428delinsAGACATCCAGGCCCCC (p.Arg471=) c.1293_1308delinsAGACATCCAGGCCCCC (p.Arg431=) c.1667_1682delinsAGACATCCAGGCCCCC c.909_924delinsAGACATCCAGGCCCCC (p.Arg303=) c.1290_1305delinsAGACATCCAGGCCCCC (p.Arg430=) c.1032_1047delinsAGACATCCAGGCCCCC (p.Arg344=) c.134_149delinsAGACATCCAGGCCCCC c.893_908delinsAGACATCCAGGCCCCC n.1563_1578delinsAGACATCCAGGCCCCC n.1530_1545delinsAGACATCCAGGCCCCC | |
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.11113604dup | CA10577093 | LDLR | c.1686dup (p.Asp563ArgfsTer?) c.1428dup (p.Asp477ArgfsTer?) c.1308dup (p.Asp437ArgfsTer?) c.1682dup c.924dup (p.Asp309ArgfsTer?) c.1305dup (p.Asp436ArgfsTer?) c.1047dup (p.Asp350ArgfsTer?) c.149dup c.908dup n.1578dup n.1545dup | ClinVar dbSNP |
19 | g.11113603C>A | CA404085959 | LDLR | c.1685C>A (p.Pro562His) c.1427C>A (p.Pro476His) c.1307C>A (p.Pro436His) c.1681C>A c.923C>A (p.Pro308His) c.1304C>A (p.Pro435His) c.1046C>A (p.Pro349His) c.148C>A c.907C>A n.1577C>A n.1544C>A | |
19 | g.11113603C= | CA2322771929 | LDLR | c.1685C= (p.Pro562=) c.1427C= (p.Pro476=) c.1307C= (p.Pro436=) c.1681C= c.923C= (p.Pro308=) c.1304C= (p.Pro435=) c.1046C= (p.Pro349=) c.148C= c.907C= n.1577C= n.1544C= | |
19 | g.11113603C>G | CA404085961 | LDLR | c.1685C>G (p.Pro562Arg) c.1427C>G (p.Pro476Arg) c.1307C>G (p.Pro436Arg) c.1681C>G c.923C>G (p.Pro308Arg) c.1304C>G (p.Pro435Arg) c.1046C>G (p.Pro349Arg) c.148C>G c.907C>G n.1577C>G n.1544C>G | ClinVar |
19 | g.11113603C>T | CA404085964 | LDLR | c.1685C>T (p.Pro562Leu) c.1427C>T (p.Pro476Leu) c.1307C>T (p.Pro436Leu) c.1681C>T c.923C>T (p.Pro308Leu) c.1304C>T (p.Pro435Leu) c.1046C>T (p.Pro349Leu) c.148C>T c.907C>T n.1577C>T n.1544C>T | ClinVar dbSNP |
19 | g.11113603_11113618delinsA | CA2830773971 | LDLR | c.1685_1700delinsA (p.Pro562_Val567delinsGln) c.1427_1442delinsA (p.Pro476_Val481delinsGln) c.1307_1322delinsA (p.Pro436_Val441delinsGln) c.1681_1696delinsA c.923_938delinsA (p.Pro308_Val313delinsGln) c.1304_1319delinsA (p.Pro435_Val440delinsGln) c.1046_1061delinsA (p.Pro349_Val354delinsGln) c.148_163delinsA c.907_922delinsA n.1577_1592delinsA n.1544_1559delinsA | |
19 | g.11113604C>A | CA505743101 | LDLR | c.1686C>A (p.Pro562=) c.1428C>A (p.Pro476=) c.1308C>A (p.Pro436=) c.1682C>A c.924C>A (p.Pro308=) c.1305C>A (p.Pro435=) c.1047C>A (p.Pro349=) c.149C>A c.908C>A n.1578C>A n.1545C>A | |
19 | g.11113604C= | CA2322771930 | LDLR | c.1686C= (p.Pro562=) c.1428C= (p.Pro476=) c.1308C= (p.Pro436=) c.1682C= c.924C= (p.Pro308=) c.1305C= (p.Pro435=) c.1047C= (p.Pro349=) c.149C= c.908C= n.1578C= n.1545C= | |
19 | g.11113604C>G | CA505743102 | LDLR | c.1686C>G (p.Pro562=) c.1428C>G (p.Pro476=) c.1308C>G (p.Pro436=) c.1682C>G c.924C>G (p.Pro308=) c.1305C>G (p.Pro435=) c.1047C>G (p.Pro349=) c.149C>G c.908C>G n.1578C>G n.1545C>G | ClinVar dbSNP gnomAD v4 |
19 | g.11113604C>T | CA034352 | LDLR | c.1686C>T (p.Pro562=) c.1428C>T (p.Pro476=) c.1308C>T (p.Pro436=) c.1682C>T c.924C>T (p.Pro308=) c.1305C>T (p.Pro435=) c.1047C>T (p.Pro349=) c.149C>T c.908C>T n.1578C>T n.1545C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
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= | |
19 | g.11113614G>T | CA404086034 | LDLR | c.1696G>T (p.Ala566Ser) c.1438G>T (p.Ala480Ser) c.1318G>T (p.Ala440Ser) c.1692G>T c.934G>T (p.Ala312Ser) c.1315G>T (p.Ala439Ser) c.1057G>T (p.Ala353Ser) c.159G>T c.918G>T n.1588G>T n.1555G>T | ClinVar gnomAD v4 |
19 | g.11113615C>A | CA404086038 | LDLR | c.1697C>A (p.Ala566Asp) c.1439C>A (p.Ala480Asp) c.1319C>A (p.Ala440Asp) c.1693C>A c.935C>A (p.Ala312Asp) c.1316C>A (p.Ala439Asp) c.1058C>A (p.Ala353Asp) c.160C>A c.919C>A n.1589C>A n.1556C>A | |
19 | g.11113615C= | CA2322771942 | LDLR | c.1697C= (p.Ala566=) c.1439C= (p.Ala480=) c.1319C= (p.Ala440=) c.1693C= c.935C= (p.Ala312=) c.1316C= (p.Ala439=) c.1058C= (p.Ala353=) c.160C= c.919C= n.1589C= n.1556C= | |
19 | g.11113615C>G | CA404086042 | LDLR | c.1697C>G (p.Ala566Gly) c.1439C>G (p.Ala480Gly) c.1319C>G (p.Ala440Gly) c.1693C>G c.935C>G (p.Ala312Gly) c.1316C>G (p.Ala439Gly) c.1058C>G (p.Ala353Gly) c.160C>G c.919C>G n.1589C>G n.1556C>G | |
19 | g.11113615C>T | CA16620738 | LDLR | c.1697C>T (p.Ala566Val) c.1439C>T (p.Ala480Val) c.1319C>T (p.Ala440Val) c.1693C>T c.935C>T (p.Ala312Val) c.1316C>T (p.Ala439Val) c.1058C>T (p.Ala353Val) c.160C>T c.919C>T n.1589C>T n.1556C>T | ClinVar dbSNP |
19 | g.11113616T>A | CA505743121 | LDLR | c.1698T>A (p.Ala566=) c.1440T>A (p.Ala480=) c.1320T>A (p.Ala440=) c.1694T>A c.936T>A (p.Ala312=) c.1317T>A (p.Ala439=) c.1059T>A (p.Ala353=) c.161T>A c.920T>A n.1590T>A n.1557T>A | gnomAD v4 |
19 | g.11113616T>C | CA505743122 | LDLR | c.1698T>C (p.Ala566=) c.1440T>C (p.Ala480=) c.1320T>C (p.Ala440=) c.1694T>C c.936T>C (p.Ala312=) c.1317T>C (p.Ala439=) c.1059T>C (p.Ala353=) c.161T>C c.920T>C n.1590T>C n.1557T>C | |
19 | g.11113616T>G | CA505743123 | LDLR | c.1698T>G (p.Ala566=) c.1440T>G (p.Ala480=) c.1320T>G (p.Ala440=) c.1694T>G c.936T>G (p.Ala312=) c.1317T>G (p.Ala439=) c.1059T>G (p.Ala353=) c.161T>G c.920T>G n.1590T>G n.1557T>G | ClinVar dbSNP gnomAD v4 |
19 | g.11113617G>A | CA10585453 | LDLR | c.1699G>A (p.Val567Met) c.1441G>A (p.Val481Met) c.1321G>A (p.Val441Met) c.1695G>A c.937G>A (p.Val313Met) c.1318G>A (p.Val440Met) c.1060G>A (p.Val354Met) c.162G>A c.921G>A n.1591G>A n.1558G>A | ClinVar dbSNP gnomAD v4 |
19 | g.11113617G>C | CA404086049 | LDLR | c.1699G>C (p.Val567Leu) c.1441G>C (p.Val481Leu) c.1321G>C (p.Val441Leu) c.1695G>C c.937G>C (p.Val313Leu) c.1318G>C (p.Val440Leu) c.1060G>C (p.Val354Leu) c.162G>C c.921G>C n.1591G>C n.1558G>C | |
19 | g.11113617G= | CA2322771943 | LDLR | c.1699G= (p.Val567=) c.1441G= (p.Val481=) c.1321G= (p.Val441=) c.1695G= c.937G= (p.Val313=) c.1318G= (p.Val440=) c.1060G= (p.Val354=) c.162G= c.921G= n.1591G= n.1558G= | |
19 | g.11113617G>T | CA404086051 | LDLR | c.1699G>T (p.Val567Leu) c.1441G>T (p.Val481Leu) c.1321G>T (p.Val441Leu) c.1695G>T c.937G>T (p.Val313Leu) c.1318G>T (p.Val440Leu) c.1060G>T (p.Val354Leu) c.162G>T c.921G>T n.1591G>T n.1558G>T | |
19 | g.11113618T>A | CA404086057 | LDLR | c.1700T>A (p.Val567Glu) c.1442T>A (p.Val481Glu) c.1322T>A (p.Val441Glu) c.1696T>A c.938T>A (p.Val313Glu) c.1319T>A (p.Val440Glu) c.1061T>A (p.Val354Glu) c.163T>A c.922T>A n.1592T>A n.1559T>A | |
19 | g.11113618T>C | CA404086059 | LDLR | c.1700T>C (p.Val567Ala) c.1442T>C (p.Val481Ala) c.1322T>C (p.Val441Ala) c.1696T>C c.938T>C (p.Val313Ala) c.1319T>C (p.Val440Ala) c.1061T>C (p.Val354Ala) c.163T>C c.922T>C n.1592T>C n.1559T>C | |
19 | g.11113618T>G | CA404086053 | LDLR | c.1700T>G (p.Val567Gly) c.1442T>G (p.Val481Gly) c.1322T>G (p.Val441Gly) c.1696T>G c.938T>G (p.Val313Gly) c.1319T>G (p.Val440Gly) c.1061T>G (p.Val354Gly) c.163T>G c.922T>G n.1592T>G n.1559T>G | dbSNP |
19 | g.11113618T= | CA2322771944 | LDLR | c.1700T= (p.Val567=) c.1442T= (p.Val481=) c.1322T= (p.Val441=) c.1696T= c.938T= (p.Val313=) c.1319T= (p.Val440=) c.1061T= (p.Val354=) c.163T= c.922T= n.1592T= n.1559T= | |
19 | g.11113619G>A | CA505743124 | LDLR | c.1701G>A (p.Val567=) c.1443G>A (p.Val481=) c.1323G>A (p.Val441=) c.1697G>A c.939G>A (p.Val313=) c.1320G>A (p.Val440=) c.1062G>A (p.Val354=) c.164G>A c.923G>A n.1593G>A n.1560G>A | |
19 | g.11113619G>C | CA505743125 | LDLR | c.1701G>C (p.Val567=) c.1443G>C (p.Val481=) c.1323G>C (p.Val441=) c.1697G>C c.939G>C (p.Val313=) c.1320G>C (p.Val440=) c.1062G>C (p.Val354=) c.164G>C c.923G>C n.1593G>C n.1560G>C | |
19 | g.11113619G>T | CA505743127 | LDLR | c.1701G>T (p.Val567=) c.1443G>T (p.Val481=) c.1323G>T (p.Val441=) c.1697G>T c.939G>T (p.Val313=) c.1320G>T (p.Val440=) c.1062G>T (p.Val354=) c.164G>T c.923G>T n.1593G>T n.1560G>T | gnomAD v4 |
19 | g.11113620G>A | CA023502 | LDLR | c.1702G>A (p.Asp568Asn) c.1444G>A (p.Asp482Asn) c.1324G>A (p.Asp442Asn) c.1698G>A c.940G>A (p.Asp314Asn) c.1321G>A (p.Asp441Asn) c.1063G>A (p.Asp355Asn) c.165G>A c.924G>A n.1594G>A n.1561G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11113620G>C | CA10585454 | LDLR | c.1702G>C (p.Asp568His) c.1444G>C (p.Asp482His) c.1324G>C (p.Asp442His) c.1698G>C c.940G>C (p.Asp314His) c.1321G>C (p.Asp441His) c.1063G>C (p.Asp355His) c.165G>C c.924G>C n.1594G>C n.1561G>C | ClinVar dbSNP gnomAD v4 |
19 | g.11113620G= | CA2322771945 | LDLR | c.1702G= (p.Asp568=) c.1444G= (p.Asp482=) c.1324G= (p.Asp442=) c.1698G= c.940G= (p.Asp314=) c.1321G= (p.Asp441=) c.1063G= (p.Asp355=) c.165G= c.924G= n.1594G= n.1561G= | |
19 | g.11113620G>T | CA10585455 | LDLR | c.1702G>T (p.Asp568Tyr) c.1444G>T (p.Asp482Tyr) c.1324G>T (p.Asp442Tyr) c.1698G>T c.940G>T (p.Asp314Tyr) c.1321G>T (p.Asp441Tyr) c.1063G>T (p.Asp355Tyr) c.165G>T c.924G>T n.1594G>T n.1561G>T | ClinVar dbSNP |
19 | g.11113621A= | CA2322771946 | LDLR | c.1703A= (p.Asp568=) c.1445A= (p.Asp482=) c.1325A= (p.Asp442=) c.1699A= c.941A= (p.Asp314=) c.1322A= (p.Asp441=) c.1064A= (p.Asp355=) c.166A= c.925A= n.1595A= n.1562A= | |
19 | g.11113621A>C | CA404086073 | LDLR | c.1703A>C (p.Asp568Ala) c.1445A>C (p.Asp482Ala) c.1325A>C (p.Asp442Ala) c.1699A>C c.941A>C (p.Asp314Ala) c.1322A>C (p.Asp441Ala) c.1064A>C (p.Asp355Ala) c.166A>C c.925A>C n.1595A>C n.1562A>C | |
19 | g.11113621A>G | CA10585456 | LDLR | c.1703A>G (p.Asp568Gly) c.1445A>G (p.Asp482Gly) c.1325A>G (p.Asp442Gly) c.1699A>G c.941A>G (p.Asp314Gly) c.1322A>G (p.Asp441Gly) c.1064A>G (p.Asp355Gly) c.166A>G c.925A>G n.1595A>G n.1562A>G | ClinVar dbSNP |
19 | g.11113621A>T | CA404086076 | LDLR | c.1703A>T (p.Asp568Val) c.1445A>T (p.Asp482Val) c.1325A>T (p.Asp442Val) c.1699A>T c.941A>T (p.Asp314Val) c.1322A>T (p.Asp441Val) c.1064A>T (p.Asp355Val) c.166A>T c.925A>T n.1595A>T n.1562A>T | |
19 | g.11113621_11113622insTC | CA2582474640 | LDLR | c.1703_1704insTC (p.Trp569ProfsTer25) c.1445_1446insTC (p.Trp483ProfsTer25) c.1325_1326insTC (p.Trp443ProfsTer25) c.1699_1700insTC c.941_942insTC (p.Trp315ProfsTer25) c.1322_1323insTC (p.Trp442ProfsTer25) c.1064_1065insTC (p.Trp356ProfsTer25) c.166_167insTC c.925_926insTC n.1595_1596insTC n.1562_1563insTC | gnomAD v4 |
19 | g.11113622C>A | CA404086079 | LDLR | c.1704C>A (p.Asp568Glu) c.1446C>A (p.Asp482Glu) c.1326C>A (p.Asp442Glu) c.1700C>A c.942C>A (p.Asp314Glu) c.1323C>A (p.Asp441Glu) c.1065C>A (p.Asp355Glu) c.167C>A c.926C>A n.1596C>A n.1563C>A | |
19 | g.11113622C>G | CA404086082 | LDLR | c.1704C>G (p.Asp568Glu) c.1446C>G (p.Asp482Glu) c.1326C>G (p.Asp442Glu) c.1700C>G c.942C>G (p.Asp314Glu) c.1323C>G (p.Asp441Glu) c.1065C>G (p.Asp355Glu) c.167C>G c.926C>G n.1596C>G n.1563C>G | |
19 | g.11113622C>T | CA505743131 | LDLR | c.1704C>T (p.Asp568=) c.1446C>T (p.Asp482=) c.1326C>T (p.Asp442=) c.1700C>T c.942C>T (p.Asp314=) c.1323C>T (p.Asp441=) c.1065C>T (p.Asp355=) c.167C>T c.926C>T n.1596C>T n.1563C>T | |
19 | g.11113622_11113623delinsCT | CA2322771947 | LDLR | c.1704_1705delinsCT (p.Asp568=) c.1446_1447delinsCT (p.Asp482=) c.1326_1327delinsCT (p.Asp442=) c.1700_1701delinsCT c.942_943delinsCT (p.Asp314=) c.1323_1324delinsCT (p.Asp441=) c.1065_1066delinsCT (p.Asp355=) c.167_168delinsCT c.926_927delinsCT n.1596_1597delinsCT n.1563_1564delinsCT | |
19 | g.11113623del | CA916081221 | LDLR | c.1705del (p.Trp569GlyfsTer24) c.1447del (p.Trp483GlyfsTer24) c.1327del (p.Trp443GlyfsTer24) c.1701del c.943del (p.Trp315GlyfsTer24) c.1324del (p.Trp442GlyfsTer24) c.1066del (p.Trp356GlyfsTer24) c.168del c.927del n.1597del n.1564del | ClinVar dbSNP |
19 | g.11113623T>A | CA404086085 | LDLR | c.1705T>A (p.Trp569Arg) c.1447T>A (p.Trp483Arg) c.1327T>A (p.Trp443Arg) c.1701T>A c.943T>A (p.Trp315Arg) c.1324T>A (p.Trp442Arg) c.1066T>A (p.Trp356Arg) c.168T>A c.927T>A n.1597T>A n.1564T>A | gnomAD v4 |
19 | g.11113623T>C | CA10585457 | LDLR | c.1705T>C (p.Trp569Arg) c.1447T>C (p.Trp483Arg) c.1327T>C (p.Trp443Arg) c.1701T>C c.943T>C (p.Trp315Arg) c.1324T>C (p.Trp442Arg) c.1066T>C (p.Trp356Arg) c.168T>C c.927T>C n.1597T>C n.1564T>C | ClinVar dbSNP gnomAD v4 |
19 | g.11113623T>G | CA404086089 | LDLR | c.1705T>G (p.Trp569Gly) c.1447T>G (p.Trp483Gly) c.1327T>G (p.Trp443Gly) c.1701T>G c.943T>G (p.Trp315Gly) c.1324T>G (p.Trp442Gly) c.1066T>G (p.Trp356Gly) c.168T>G c.927T>G n.1597T>G n.1564T>G | |
19 | g.11113623T= | CA2322771948 | LDLR | c.1705T= (p.Trp569=) c.1447T= (p.Trp483=) c.1327T= (p.Trp443=) c.1701T= c.943T= (p.Trp315=) c.1324T= (p.Trp442=) c.1066T= (p.Trp356=) c.168T= c.927T= n.1597T= n.1564T= | |
19 | g.11113624_11113627dup | CA2695228180 | LDLR | c.1706_1709dup (p.Ile570MetfsTer?) c.1448_1451dup (p.Ile484MetfsTer?) c.1328_1331dup (p.Ile444MetfsTer?) c.1702_1705dup c.944_947dup (p.Ile316MetfsTer?) c.1325_1328dup (p.Ile443MetfsTer?) c.1067_1070dup (p.Ile357MetfsTer?) c.169_172dup n.1598_1601dup n.1565_1568dup | |
19 | g.11113624G>A | CA10576306 | LDLR | c.1706G>A (p.Trp569Ter) c.1448G>A (p.Trp483Ter) c.1328G>A (p.Trp443Ter) c.1702G>A c.944G>A (p.Trp315Ter) c.1325G>A (p.Trp442Ter) c.1067G>A (p.Trp356Ter) c.169G>A c.928G>A n.1598G>A n.1565G>A | ClinVar dbSNP gnomAD v4 |
19 | g.11113624G>C | CA404086094 | LDLR | c.1706G>C (p.Trp569Ser) c.1448G>C (p.Trp483Ser) c.1328G>C (p.Trp443Ser) c.1702G>C c.944G>C (p.Trp315Ser) c.1325G>C (p.Trp442Ser) c.1067G>C (p.Trp356Ser) c.169G>C c.928G>C n.1598G>C n.1565G>C | |
19 | g.11113624G= | CA2322771949 | LDLR | c.1706G= (p.Trp569=) c.1448G= (p.Trp483=) c.1328G= (p.Trp443=) c.1702G= c.944G= (p.Trp315=) c.1325G= (p.Trp442=) c.1067G= (p.Trp356=) c.169G= c.928G= n.1598G= n.1565G= | |
19 | g.11113624G>T | CA404086098 | LDLR | c.1706G>T (p.Trp569Leu) c.1448G>T (p.Trp483Leu) c.1328G>T (p.Trp443Leu) c.1702G>T c.944G>T (p.Trp315Leu) c.1325G>T (p.Trp442Leu) c.1067G>T (p.Trp356Leu) c.169G>T c.928G>T n.1598G>T n.1565G>T | ClinVar dbSNP |
19 | g.11113624_11113625del | CA2695228181 | LDLR | c.1706_1707del (p.Trp569TyrfsTer?) c.1448_1449del (p.Trp483TyrfsTer?) c.1328_1329del (p.Trp443TyrfsTer?) c.1702_1703del c.944_945del (p.Trp315TyrfsTer?) c.1325_1326del (p.Trp442TyrfsTer?) c.1067_1068del (p.Trp356TyrfsTer?) c.169_170del n.1598_1599del n.1565_1566del | |
19 | g.11113625G>A | CA10585458 | LDLR | c.1707G>A (p.Trp569Ter) c.1449G>A (p.Trp483Ter) c.1329G>A (p.Trp443Ter) c.1703G>A c.945G>A (p.Trp315Ter) c.1326G>A (p.Trp442Ter) c.1068G>A (p.Trp356Ter) c.170G>A n.1599G>A n.1566G>A | ClinVar dbSNP |
19 | g.11113625G>C | CA404086103 | LDLR | c.1707G>C (p.Trp569Cys) c.1449G>C (p.Trp483Cys) c.1329G>C (p.Trp443Cys) c.1703G>C c.945G>C (p.Trp315Cys) c.1326G>C (p.Trp442Cys) c.1068G>C (p.Trp356Cys) c.170G>C n.1599G>C n.1566G>C | ClinVar dbSNP |
19 | g.11113625G= | CA2322771950 | LDLR | c.1707G= (p.Trp569=) c.1449G= (p.Trp483=) c.1329G= (p.Trp443=) c.1703G= c.945G= (p.Trp315=) c.1326G= (p.Trp442=) c.1068G= (p.Trp356=) c.170G= n.1599G= n.1566G= | |
19 | g.11113625G>T | CA10585459 | LDLR | c.1707G>T (p.Trp569Cys) c.1449G>T (p.Trp483Cys) c.1329G>T (p.Trp443Cys) c.1703G>T c.945G>T (p.Trp315Cys) c.1326G>T (p.Trp442Cys) c.1068G>T (p.Trp356Cys) c.170G>T n.1599G>T n.1566G>T | ClinVar dbSNP gnomAD v4 COSMIC |
19 | g.11113625_11113626del | CA2582474641 | LDLR | c.1707_1708del (p.Trp569CysfsTer?) c.1449_1450del (p.Trp483CysfsTer?) c.1329_1330del (p.Trp443CysfsTer?) c.1703_1704del c.945_946del (p.Trp315CysfsTer?) c.1326_1327del (p.Trp442CysfsTer?) c.1068_1069del (p.Trp356CysfsTer?) c.170_171del n.1599_1600del n.1566_1567del | gnomAD v4 |
19 | g.11113626A>C | CA404086109 | LDLR | c.1708A>C (p.Ile570Leu) c.1450A>C (p.Ile484Leu) c.1330A>C (p.Ile444Leu) c.1704A>C c.946A>C (p.Ile316Leu) c.1327A>C (p.Ile443Leu) c.1069A>C (p.Ile357Leu) c.171A>C n.1600A>C n.1567A>C | |
19 | g.11113626A>G | CA404086111 | LDLR | c.1708A>G (p.Ile570Val) c.1450A>G (p.Ile484Val) c.1330A>G (p.Ile444Val) c.1704A>G c.946A>G (p.Ile316Val) c.1327A>G (p.Ile443Val) c.1069A>G (p.Ile357Val) c.171A>G n.1600A>G n.1567A>G | ClinVar dbSNP |
19 | g.11113626A>T | CA404086115 | LDLR | c.1708A>T (p.Ile570Phe) c.1450A>T (p.Ile484Phe) c.1330A>T (p.Ile444Phe) c.1704A>T c.946A>T (p.Ile316Phe) c.1327A>T (p.Ile443Phe) c.1069A>T (p.Ile357Phe) c.171A>T n.1600A>T n.1567A>T | |
19 | g.11113627T>A | CA404086119 | LDLR | c.1709T>A (p.Ile570Asn) c.1451T>A (p.Ile484Asn) c.1331T>A (p.Ile444Asn) c.1705T>A c.947T>A (p.Ile316Asn) c.1328T>A (p.Ile443Asn) c.1070T>A (p.Ile357Asn) c.172T>A n.1601T>A n.1568T>A | |
19 | g.11113627T>C | CA404086121 | LDLR | c.1709T>C (p.Ile570Thr) c.1451T>C (p.Ile484Thr) c.1331T>C (p.Ile444Thr) c.1705T>C c.947T>C (p.Ile316Thr) c.1328T>C (p.Ile443Thr) c.1070T>C (p.Ile357Thr) c.172T>C n.1601T>C n.1568T>C | |
19 | g.11113627T>G | CA404086122 | LDLR | c.1709T>G (p.Ile570Ser) c.1451T>G (p.Ile484Ser) c.1331T>G (p.Ile444Ser) c.1705T>G c.947T>G (p.Ile316Ser) c.1328T>G (p.Ile443Ser) c.1070T>G (p.Ile357Ser) c.172T>G n.1601T>G n.1568T>G | |
19 | g.11113628C>A | CA505743138 | LDLR | c.1710C>A (p.Ile570=) c.1452C>A (p.Ile484=) c.1332C>A (p.Ile444=) c.1706C>A c.948C>A (p.Ile316=) c.1329C>A (p.Ile443=) c.1071C>A (p.Ile357=) c.173C>A n.1602C>A n.1569C>A | gnomAD v4 |
19 | g.11113628C>G | CA404086127 | LDLR | c.1710C>G (p.Ile570Met) c.1452C>G (p.Ile484Met) c.1332C>G (p.Ile444Met) c.1706C>G c.948C>G (p.Ile316Met) c.1329C>G (p.Ile443Met) c.1071C>G (p.Ile357Met) c.173C>G n.1602C>G n.1569C>G | |
19 | g.11113628C>T | CA505743137 | LDLR | c.1710C>T (p.Ile570=) c.1452C>T (p.Ile484=) c.1332C>T (p.Ile444=) c.1706C>T c.948C>T (p.Ile316=) c.1329C>T (p.Ile443=) c.1071C>T (p.Ile357=) c.173C>T n.1602C>T n.1569C>T | |
19 | g.11113629C>A | CA404086131 | LDLR | c.1711C>A (p.His571Asn) c.1453C>A (p.His485Asn) c.1333C>A (p.His445Asn) c.1707C>A c.949C>A (p.His317Asn) c.1330C>A (p.His444Asn) c.1072C>A (p.His358Asn) c.174C>A n.1603C>A n.1570C>A | |
19 | g.11113629C>G | CA404086133 | LDLR | c.1711C>G (p.His571Asp) c.1453C>G (p.His485Asp) c.1333C>G (p.His445Asp) c.1707C>G c.949C>G (p.His317Asp) c.1330C>G (p.His444Asp) c.1072C>G (p.His358Asp) c.174C>G n.1603C>G n.1570C>G | |
19 | g.11113629C>T | CA404086137 | LDLR | c.1711C>T (p.His571Tyr) c.1453C>T (p.His485Tyr) c.1333C>T (p.His445Tyr) c.1707C>T c.949C>T (p.His317Tyr) c.1330C>T (p.His444Tyr) c.1072C>T (p.His358Tyr) c.174C>T n.1603C>T n.1570C>T | gnomAD v4 |
19 | g.11113630A= | CA2322771951 | LDLR | c.1712A= (p.His571=) c.1454A= (p.His485=) c.1334A= (p.His445=) c.1708A= c.950A= (p.His317=) c.1331A= (p.His444=) c.1073A= (p.His358=) c.175A= n.1604A= n.1571A= | |
19 | g.11113630A>C | CA404086141 | LDLR | c.1712A>C (p.His571Pro) c.1454A>C (p.His485Pro) c.1334A>C (p.His445Pro) c.1708A>C c.950A>C (p.His317Pro) c.1331A>C (p.His444Pro) c.1073A>C (p.His358Pro) c.175A>C n.1604A>C n.1571A>C | |
19 | g.11113630A>G | CA10585460 | LDLR | c.1712A>G (p.His571Arg) c.1454A>G (p.His485Arg) c.1334A>G (p.His445Arg) c.1708A>G c.950A>G (p.His317Arg) c.1331A>G (p.His444Arg) c.1073A>G (p.His358Arg) c.175A>G n.1604A>G n.1571A>G | ClinVar dbSNP gnomAD v4 |
19 | g.11113630A>T | CA404086145 | LDLR | c.1712A>T (p.His571Leu) c.1454A>T (p.His485Leu) c.1334A>T (p.His445Leu) c.1708A>T c.950A>T (p.His317Leu) c.1331A>T (p.His444Leu) c.1073A>T (p.His358Leu) c.175A>T n.1604A>T n.1571A>T | |
19 | g.11113631C>A | CA404086146 | LDLR | c.1713C>A (p.His571Gln) c.1455C>A (p.His485Gln) c.1335C>A (p.His445Gln) c.1709C>A c.951C>A (p.His317Gln) c.1332C>A (p.His444Gln) c.1074C>A (p.His358Gln) c.176C>A n.1605C>A n.1572C>A | |
19 | g.11113631C= | CA2322771952 | LDLR | c.1713C= (p.His571=) c.1455C= (p.His485=) c.1335C= (p.His445=) c.1709C= c.951C= (p.His317=) c.1332C= (p.His444=) c.1074C= (p.His358=) c.176C= n.1605C= n.1572C= | |
19 | g.11113631C>G | CA10585461 | LDLR | c.1713C>G (p.His571Gln) c.1455C>G (p.His485Gln) c.1335C>G (p.His445Gln) c.1709C>G c.951C>G (p.His317Gln) c.1332C>G (p.His444Gln) c.1074C>G (p.His358Gln) c.176C>G n.1605C>G n.1572C>G | ClinVar dbSNP |
19 | g.11113631C>T | CA505743140 | LDLR | c.1713C>T (p.His571=) c.1455C>T (p.His485=) c.1335C>T (p.His445=) c.1709C>T c.951C>T (p.His317=) c.1332C>T (p.His444=) c.1074C>T (p.His358=) c.176C>T n.1605C>T n.1572C>T | ClinVar dbSNP |
19 | g.11113631_11113632delinsCA | CA2322771953 | LDLR | c.1713_1714delinsCA (p.His571=) c.1455_1456delinsCA (p.His485=) c.1335_1336delinsCA (p.His445=) c.1709_1710delinsCA c.951_952delinsCA (p.His317=) c.1332_1333delinsCA (p.His444=) c.1074_1075delinsCA (p.His358=) c.176_177delinsCA n.1605_1606delinsCA n.1572_1573delinsCA | |
19 | g.11113632del | CA645373231 | LDLR | c.1714del (p.Ser572AlafsTer21) c.1456del (p.Ser486AlafsTer21) c.1336del (p.Ser446AlafsTer21) c.1710del c.952del (p.Ser318AlafsTer21) c.1333del (p.Ser445AlafsTer21) c.1075del (p.Ser359AlafsTer21) c.177del n.1606del n.1573del | ClinVar dbSNP |
19 | g.11113632A= | CA2322771954 | LDLR | c.1714A= (p.Ser572=) c.1456A= (p.Ser486=) c.1336A= (p.Ser446=) c.1710A= c.952A= (p.Ser318=) c.1333A= (p.Ser445=) c.1075A= (p.Ser359=) c.177A= n.1606A= n.1573A= | |
19 | g.11113632A>C | CA404086148 | LDLR | c.1714A>C (p.Ser572Arg) c.1456A>C (p.Ser486Arg) c.1336A>C (p.Ser446Arg) c.1710A>C c.952A>C (p.Ser318Arg) c.1333A>C (p.Ser445Arg) c.1075A>C (p.Ser359Arg) c.177A>C n.1606A>C n.1573A>C | |
19 | g.11113632A>G | CA10585462 | LDLR | c.1714A>G (p.Ser572Gly) c.1456A>G (p.Ser486Gly) c.1336A>G (p.Ser446Gly) c.1710A>G c.952A>G (p.Ser318Gly) c.1333A>G (p.Ser445Gly) c.1075A>G (p.Ser359Gly) c.177A>G n.1606A>G n.1573A>G | ClinVar dbSNP |
19 | g.11113632A>T | CA404086150 | LDLR | c.1714A>T (p.Ser572Cys) c.1456A>T (p.Ser486Cys) c.1336A>T (p.Ser446Cys) c.1710A>T c.952A>T (p.Ser318Cys) c.1333A>T (p.Ser445Cys) c.1075A>T (p.Ser359Cys) c.177A>T n.1606A>T n.1573A>T | |
19 | g.11113633G>A | CA10585463 | LDLR | c.1715G>A (p.Ser572Asn) c.1457G>A (p.Ser486Asn) c.1337G>A (p.Ser446Asn) c.1711G>A c.953G>A (p.Ser318Asn) c.1334G>A (p.Ser445Asn) c.1076G>A (p.Ser359Asn) c.178G>A n.1607G>A n.1574G>A | ClinVar dbSNP |
19 | g.11113633G>C | CA404086155 | LDLR | c.1715G>C (p.Ser572Thr) c.1457G>C (p.Ser486Thr) c.1337G>C (p.Ser446Thr) c.1711G>C c.953G>C (p.Ser318Thr) c.1334G>C (p.Ser445Thr) c.1076G>C (p.Ser359Thr) c.178G>C n.1607G>C n.1574G>C | |
19 | g.11113633G= | CA2322771955 | LDLR | c.1715G= (p.Ser572=) c.1457G= (p.Ser486=) c.1337G= (p.Ser446=) c.1711G= c.953G= (p.Ser318=) c.1334G= (p.Ser445=) c.1076G= (p.Ser359=) c.178G= n.1607G= n.1574G= | |
19 | g.11113633G>T | CA404086157 | LDLR | c.1715G>T (p.Ser572Ile) c.1457G>T (p.Ser486Ile) c.1337G>T (p.Ser446Ile) c.1711G>T c.953G>T (p.Ser318Ile) c.1334G>T (p.Ser445Ile) c.1076G>T (p.Ser359Ile) c.178G>T n.1607G>T n.1574G>T | |
19 | g.11113633_11113636delinsGCAA | CA2322771956 | LDLR | c.1715_1718delinsGCAA (p.Ser572=) c.1457_1460delinsGCAA (p.Ser486=) c.1337_1340delinsGCAA (p.Ser446=) c.1711_1714delinsGCAA c.953_956delinsGCAA (p.Ser318=) c.1334_1337delinsGCAA (p.Ser445=) c.1076_1079delinsGCAA (p.Ser359=) c.178_181delinsGCAA n.1607_1610delinsGCAA n.1574_1577delinsGCAA | |
19 | g.11113634C>A | CA404086162 | LDLR | c.1716C>A (p.Ser572Arg) c.1458C>A (p.Ser486Arg) c.1338C>A (p.Ser446Arg) c.1712C>A c.954C>A (p.Ser318Arg) c.1335C>A (p.Ser445Arg) c.1077C>A (p.Ser359Arg) c.179C>A n.1608C>A n.1575C>A | |
19 | g.11113634C>G | CA404086164 | LDLR | c.1716C>G (p.Ser572Arg) c.1458C>G (p.Ser486Arg) c.1338C>G (p.Ser446Arg) c.1712C>G c.954C>G (p.Ser318Arg) c.1335C>G (p.Ser445Arg) c.1077C>G (p.Ser359Arg) c.179C>G n.1608C>G n.1575C>G | |
19 | g.11113634C>T | CA505743142 | LDLR | c.1716C>T (p.Ser572=) c.1458C>T (p.Ser486=) c.1338C>T (p.Ser446=) c.1712C>T c.954C>T (p.Ser318=) c.1335C>T (p.Ser445=) c.1077C>T (p.Ser359=) c.179C>T n.1608C>T n.1575C>T | |
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.11113635A>C | CA404086168 | LDLR | c.1717A>C (p.Asn573His) c.1459A>C (p.Asn487His) c.1339A>C (p.Asn447His) c.1713A>C c.955A>C (p.Asn319His) c.1336A>C (p.Asn446His) c.1078A>C (p.Asn360His) c.180A>C n.1609A>C n.1576A>C | |
19 | g.11113635A>G | CA404086170 | LDLR | c.1717A>G (p.Asn573Asp) c.1459A>G (p.Asn487Asp) c.1339A>G (p.Asn447Asp) c.1713A>G c.955A>G (p.Asn319Asp) c.1336A>G (p.Asn446Asp) c.1078A>G (p.Asn360Asp) c.180A>G n.1609A>G n.1576A>G | |
19 | g.11113635A>T | CA404086172 | LDLR | c.1717A>T (p.Asn573Tyr) c.1459A>T (p.Asn487Tyr) c.1339A>T (p.Asn447Tyr) c.1713A>T c.955A>T (p.Asn319Tyr) c.1336A>T (p.Asn446Tyr) c.1078A>T (p.Asn360Tyr) c.180A>T n.1609A>T n.1576A>T | |
19 | g.11113636del | CA2497030065 | LDLR | c.1718del (p.Asn573ThrfsTer20) c.1460del (p.Asn487ThrfsTer20) c.1340del (p.Asn447ThrfsTer20) c.1714del c.956del (p.Asn319ThrfsTer20) c.1337del (p.Asn446ThrfsTer20) c.1079del (p.Asn360ThrfsTer20) c.181del n.1610del n.1577del | |
19 | g.11113636A= | CA2322771957 | LDLR | c.1718A= (p.Asn573=) c.1460A= (p.Asn487=) c.1340A= (p.Asn447=) c.1714A= c.956A= (p.Asn319=) c.1337A= (p.Asn446=) c.1079A= (p.Asn360=) c.181A= n.1610A= n.1577A= | |
19 | g.11113636A>C | CA404086180 | LDLR | c.1718A>C (p.Asn573Thr) c.1460A>C (p.Asn487Thr) c.1340A>C (p.Asn447Thr) c.1714A>C c.956A>C (p.Asn319Thr) c.1337A>C (p.Asn446Thr) c.1079A>C (p.Asn360Thr) c.181A>C n.1610A>C n.1577A>C | |
19 | g.11113636A>G | CA10585464 | LDLR | c.1718A>G (p.Asn573Ser) c.1460A>G (p.Asn487Ser) c.1340A>G (p.Asn447Ser) c.1714A>G c.956A>G (p.Asn319Ser) c.1337A>G (p.Asn446Ser) c.1079A>G (p.Asn360Ser) c.181A>G n.1610A>G n.1577A>G | ClinVar dbSNP gnomAD v4 |
19 | g.11113636A>T | CA404086175 | LDLR | c.1718A>T (p.Asn573Ile) c.1460A>T (p.Asn487Ile) c.1340A>T (p.Asn447Ile) c.1714A>T c.956A>T (p.Asn319Ile) c.1337A>T (p.Asn446Ile) c.1079A>T (p.Asn360Ile) c.181A>T n.1610A>T n.1577A>T | |
19 | g.11113637C>A | CA404086183 | LDLR | c.1719C>A (p.Asn573Lys) c.1461C>A (p.Asn487Lys) c.1341C>A (p.Asn447Lys) c.1715C>A c.957C>A (p.Asn319Lys) c.1338C>A (p.Asn446Lys) c.1080C>A (p.Asn360Lys) c.182C>A n.1611C>A n.1578C>A | |
19 | g.11113637C>G | CA404086186 | LDLR | c.1719C>G (p.Asn573Lys) c.1461C>G (p.Asn487Lys) c.1341C>G (p.Asn447Lys) c.1715C>G c.957C>G (p.Asn319Lys) c.1338C>G (p.Asn446Lys) c.1080C>G (p.Asn360Lys) c.182C>G n.1611C>G n.1578C>G | |
19 | g.11113637C>T | CA505743144 | LDLR | c.1719C>T (p.Asn573=) c.1461C>T (p.Asn487=) c.1341C>T (p.Asn447=) c.1715C>T c.957C>T (p.Asn319=) c.1338C>T (p.Asn446=) c.1080C>T (p.Asn360=) c.182C>T n.1611C>T n.1578C>T | ClinVar dbSNP |
19 | g.11113637dup | CA658799138 | LDLR | c.1719dup (p.Ile574HisfsTer?) c.1461dup (p.Ile488HisfsTer?) c.1341dup (p.Ile448HisfsTer?) c.1715dup c.957dup (p.Ile320HisfsTer?) c.1338dup (p.Ile447HisfsTer?) c.1080dup (p.Ile361HisfsTer?) c.182dup n.1611dup n.1578dup | 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 | ClinVar |
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 | |
19 | g.11113648C>T | CA404086265 | LDLR | c.1730C>T (p.Thr577Ile) c.1472C>T (p.Thr491Ile) c.1352C>T (p.Thr451Ile) c.1726C>T c.968C>T (p.Thr323Ile) c.1349C>T (p.Thr450Ile) c.1091C>T (p.Thr364Ile) c.193C>T n.1622C>T n.1589C>T | |
19 | g.11113649C>A | CA505743243 | LDLR | c.1731C>A (p.Thr577=) c.1473C>A (p.Thr491=) c.1353C>A (p.Thr451=) c.1727C>A c.969C>A (p.Thr323=) c.1350C>A (p.Thr450=) c.1092C>A (p.Thr364=) c.194C>A n.1623C>A n.1590C>A | dbSNP gnomAD v2 gnomAD v4 |
19 | g.11113649C= | CA2322771968 | LDLR | c.1731C= (p.Thr577=) c.1473C= (p.Thr491=) c.1353C= (p.Thr451=) c.1727C= c.969C= (p.Thr323=) c.1350C= (p.Thr450=) c.1092C= (p.Thr364=) c.194C= n.1623C= n.1590C= | |
19 | g.11113649C>G | CA505743244 | LDLR | c.1731C>G (p.Thr577=) c.1473C>G (p.Thr491=) c.1353C>G (p.Thr451=) c.1727C>G c.969C>G (p.Thr323=) c.1350C>G (p.Thr450=) c.1092C>G (p.Thr364=) c.194C>G n.1623C>G n.1590C>G | ClinVar dbSNP gnomAD v4 |
19 | g.11113649C>T | CA034436 | LDLR | c.1731C>T (p.Thr577=) c.1473C>T (p.Thr491=) c.1353C>T (p.Thr451=) c.1727C>T c.969C>T (p.Thr323=) c.1350C>T (p.Thr450=) c.1092C>T (p.Thr364=) c.194C>T n.1623C>T n.1590C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11113649_11113650delinsCG | CA2322771967 | LDLR | c.1731_1732delinsCG (p.Thr577=) c.1473_1474delinsCG (p.Thr491=) c.1353_1354delinsCG (p.Thr451=) c.1727_1728delinsCG c.969_970delinsCG (p.Thr323=) c.1350_1351delinsCG (p.Thr450=) c.1092_1093delinsCG (p.Thr364=) c.194_195delinsCG n.1623_1624delinsCG n.1590_1591delinsCG | |
19 | g.11113650del | CA645373232 | LDLR | c.1732del (p.Asp578ThrfsTer15) c.1474del (p.Asp492ThrfsTer15) c.1354del (p.Asp452ThrfsTer15) c.1728del c.970del (p.Asp324ThrfsTer15) c.1351del (p.Asp451ThrfsTer15) c.1093del (p.Asp365ThrfsTer15) c.195del n.1624del n.1591del | ClinVar dbSNP |
19 | g.11113650G>A | CA023512 | LDLR | c.1732G>A (p.Asp578Asn) c.1474G>A (p.Asp492Asn) c.1354G>A (p.Asp452Asn) c.1728G>A c.970G>A (p.Asp324Asn) c.1351G>A (p.Asp451Asn) c.1093G>A (p.Asp365Asn) c.195G>A n.1624G>A n.1591G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.11113650G>C | CA10585474 | LDLR | c.1732G>C (p.Asp578His) c.1474G>C (p.Asp492His) c.1354G>C (p.Asp452His) c.1728G>C c.970G>C (p.Asp324His) c.1351G>C (p.Asp451His) c.1093G>C (p.Asp365His) c.195G>C n.1624G>C n.1591G>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11113650G= | CA2322771969 | LDLR | c.1732G= (p.Asp578=) c.1474G= (p.Asp492=) c.1354G= (p.Asp452=) c.1728G= c.970G= (p.Asp324=) c.1351G= (p.Asp451=) c.1093G= (p.Asp365=) c.195G= n.1624G= n.1591G= | |
19 | g.11113650G>T | CA404086274 | LDLR | c.1732G>T (p.Asp578Tyr) c.1474G>T (p.Asp492Tyr) c.1354G>T (p.Asp452Tyr) c.1728G>T c.970G>T (p.Asp324Tyr) c.1351G>T (p.Asp451Tyr) c.1093G>T (p.Asp365Tyr) c.195G>T n.1624G>T n.1591G>T | ClinVar gnomAD v4 |
19 | g.11113651A= | CA2322771971 | LDLR | c.1733A= (p.Asp578=) c.1475A= (p.Asp492=) c.1355A= (p.Asp452=) c.1729A= c.971A= (p.Asp324=) c.1352A= (p.Asp451=) c.1094A= (p.Asp365=) c.196A= n.1625A= n.1592A= | |
19 | g.11113651A>C | CA404086278 | LDLR | c.1733A>C (p.Asp578Ala) c.1475A>C (p.Asp492Ala) c.1355A>C (p.Asp452Ala) c.1729A>C c.971A>C (p.Asp324Ala) c.1352A>C (p.Asp451Ala) c.1094A>C (p.Asp365Ala) c.196A>C n.1625A>C n.1592A>C | |
19 | g.11113651A>G | CA10585475 | LDLR | c.1733A>G (p.Asp578Gly) c.1475A>G (p.Asp492Gly) c.1355A>G (p.Asp452Gly) c.1729A>G c.971A>G (p.Asp324Gly) c.1352A>G (p.Asp451Gly) c.1094A>G (p.Asp365Gly) c.196A>G n.1625A>G n.1592A>G | ClinVar dbSNP |
19 | g.11113651A>T | CA404086282 | LDLR | c.1733A>T (p.Asp578Val) c.1475A>T (p.Asp492Val) c.1355A>T (p.Asp452Val) c.1729A>T c.971A>T (p.Asp324Val) c.1352A>T (p.Asp451Val) c.1094A>T (p.Asp365Val) c.196A>T n.1625A>T n.1592A>T | |
19 | g.11113651_11113653delinsACT | CA2322771970 | LDLR | c.1733_1735delinsACT (p.Asp578=) c.1475_1477delinsACT (p.Asp492=) c.1355_1357delinsACT (p.Asp452=) c.1729_1731delinsACT c.971_973delinsACT (p.Asp324=) c.1352_1354delinsACT (p.Asp451=) c.1094_1096delinsACT (p.Asp365=) c.196_198delinsACT n.1625_1627delinsACT n.1592_1594delinsACT | |
19 | g.11113652C>A | CA404086296 | LDLR | c.1734C>A (p.Asp578Glu) c.1476C>A (p.Asp492Glu) c.1356C>A (p.Asp452Glu) c.1730C>A c.972C>A (p.Asp324Glu) c.1353C>A (p.Asp451Glu) c.1095C>A (p.Asp365Glu) c.197C>A n.1626C>A n.1593C>A | |
19 | g.11113652C>G | CA404086294 | LDLR | c.1734C>G (p.Asp578Glu) c.1476C>G (p.Asp492Glu) c.1356C>G (p.Asp452Glu) c.1730C>G c.972C>G (p.Asp324Glu) c.1353C>G (p.Asp451Glu) c.1095C>G (p.Asp365Glu) c.197C>G n.1626C>G n.1593C>G | |
19 | g.11113652C>T | CA505743249 | LDLR | c.1734C>T (p.Asp578=) c.1476C>T (p.Asp492=) c.1356C>T (p.Asp452=) c.1730C>T c.972C>T (p.Asp324=) c.1353C>T (p.Asp451=) c.1095C>T (p.Asp365=) c.197C>T n.1626C>T n.1593C>T | |
19 | g.11113652_11113655delinsCTCT | CA2322771972 | LDLR | c.1734_1737delinsCTCT (p.Asp578=) c.1476_1479delinsCTCT (p.Asp492=) c.1356_1359delinsCTCT (p.Asp452=) c.1730_1733delinsCTCT c.972_975delinsCTCT (p.Asp324=) c.1353_1356delinsCTCT (p.Asp451=) c.1095_1098delinsCTCT (p.Asp365=) c.197_200delinsCTCT n.1626_1629delinsCTCT n.1593_1596delinsCTCT | |
19 | g.11113654_11113655del | CA351758 | LDLR | c.1736_1737del (p.Ser579CysfsTer?) c.1478_1479del (p.Ser493CysfsTer?) c.1358_1359del (p.Ser453CysfsTer?) c.1732_1733del c.974_975del (p.Ser325CysfsTer?) c.1355_1356del (p.Ser452CysfsTer?) c.1097_1098del (p.Ser366CysfsTer?) c.199_200del n.1628_1629del n.1595_1596del | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11113653_11113664del | CA2695228182 | LDLR | c.1735_1746del (p.Ser579_Gly582del) c.1477_1488del (p.Ser493_Gly496del) c.1357_1368del (p.Ser453_Gly456del) c.1731_1742del c.973_984del (p.Ser325_Gly328del) c.1354_1365del (p.Ser452_Gly455del) c.1096_1107del (p.Ser366_Gly369del) c.198_209del n.1627_1638del n.1594_1605del | |
19 | g.11113653T>A | CA404086309 | LDLR | c.1735T>A (p.Ser579Thr) c.1477T>A (p.Ser493Thr) c.1357T>A (p.Ser453Thr) c.1731T>A c.973T>A (p.Ser325Thr) c.1354T>A (p.Ser452Thr) c.1096T>A (p.Ser366Thr) c.198T>A n.1627T>A n.1594T>A | |
19 | g.11113653T>C | CA404086303 | LDLR | c.1735T>C (p.Ser579Pro) c.1477T>C (p.Ser493Pro) c.1357T>C (p.Ser453Pro) c.1731T>C c.973T>C (p.Ser325Pro) c.1354T>C (p.Ser452Pro) c.1096T>C (p.Ser366Pro) c.198T>C n.1627T>C n.1594T>C | |
19 | g.11113653T>G | CA404086306 | LDLR | c.1735T>G (p.Ser579Ala) c.1477T>G (p.Ser493Ala) c.1357T>G (p.Ser453Ala) c.1731T>G c.973T>G (p.Ser325Ala) c.1354T>G (p.Ser452Ala) c.1096T>G (p.Ser366Ala) c.198T>G n.1627T>G n.1594T>G | |
19 | g.11113653_11113654delinsTC | CA2322771973 | LDLR | c.1735_1736delinsTC (p.Ser579=) c.1477_1478delinsTC (p.Ser493=) c.1357_1358delinsTC (p.Ser453=) c.1731_1732delinsTC c.973_974delinsTC (p.Ser325=) c.1354_1355delinsTC (p.Ser452=) c.1096_1097delinsTC (p.Ser366=) c.198_199delinsTC n.1627_1628delinsTC n.1594_1595delinsTC | |
19 | g.11113653_11113655delinsAGAGACA | CA10585476 | LDLR | c.1735_1737delinsAGAGACA (p.Ser579ArgfsTer?) c.1477_1479delinsAGAGACA (p.Ser493ArgfsTer?) c.1357_1359delinsAGAGACA (p.Ser453ArgfsTer?) c.1731_1733delinsAGAGACA c.973_975delinsAGAGACA (p.Ser325ArgfsTer?) c.1354_1356delinsAGAGACA (p.Ser452ArgfsTer?) c.1096_1098delinsAGAGACA (p.Ser366ArgfsTer?) c.198_200delinsAGAGACA n.1627_1629delinsAGAGACA n.1594_1596delinsAGAGACA | ClinVar dbSNP |
19 | g.11113654del | CA16602330 | LDLR | c.1736del (p.Ser579LeufsTer14) c.1478del (p.Ser493LeufsTer14) c.1358del (p.Ser453LeufsTer14) c.1732del c.974del (p.Ser325LeufsTer14) c.1355del (p.Ser452LeufsTer14) c.1097del (p.Ser366LeufsTer14) c.199del n.1628del n.1595del | ClinVar dbSNP |
19 | g.11113654C>A | CA404086320 | LDLR | c.1736C>A (p.Ser579Tyr) c.1478C>A (p.Ser493Tyr) c.1358C>A (p.Ser453Tyr) c.1732C>A c.974C>A (p.Ser325Tyr) c.1355C>A (p.Ser452Tyr) c.1097C>A (p.Ser366Tyr) c.199C>A n.1628C>A n.1595C>A | |
19 | g.11113654C= | CA2322771974 | LDLR | c.1736C= (p.Ser579=) c.1478C= (p.Ser493=) c.1358C= (p.Ser453=) c.1732C= c.974C= (p.Ser325=) c.1355C= (p.Ser452=) c.1097C= (p.Ser366=) c.199C= n.1628C= n.1595C= | |
19 | g.11113654C>G | CA404086311 | LDLR | c.1736C>G (p.Ser579Cys) c.1478C>G (p.Ser493Cys) c.1358C>G (p.Ser453Cys) c.1732C>G c.974C>G (p.Ser325Cys) c.1355C>G (p.Ser452Cys) c.1097C>G (p.Ser366Cys) c.199C>G n.1628C>G n.1595C>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.11113654C>T | CA404086314 | LDLR | c.1736C>T (p.Ser579Phe) c.1478C>T (p.Ser493Phe) c.1358C>T (p.Ser453Phe) c.1732C>T c.974C>T (p.Ser325Phe) c.1355C>T (p.Ser452Phe) c.1097C>T (p.Ser366Phe) c.199C>T n.1628C>T n.1595C>T | |
19 | g.11113655T>A | CA505743252 | LDLR | c.1737T>A (p.Ser579=) c.1479T>A (p.Ser493=) c.1359T>A (p.Ser453=) c.1733T>A c.975T>A (p.Ser325=) c.1356T>A (p.Ser452=) c.1098T>A (p.Ser366=) c.200T>A n.1629T>A n.1596T>A | |
19 | g.11113655T>C | CA034467 | LDLR | c.1737T>C (p.Ser579=) c.1479T>C (p.Ser493=) c.1359T>C (p.Ser453=) c.1733T>C c.975T>C (p.Ser325=) c.1356T>C (p.Ser452=) c.1098T>C (p.Ser366=) c.200T>C n.1629T>C n.1596T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.11113655T>G | CA505743254 | LDLR | c.1737T>G (p.Ser579=) c.1479T>G (p.Ser493=) c.1359T>G (p.Ser453=) c.1733T>G c.975T>G (p.Ser325=) c.1356T>G (p.Ser452=) c.1098T>G (p.Ser366=) c.200T>G n.1629T>G n.1596T>G | |
19 | g.11113655T= | CA2322771975 | LDLR | c.1737T= (p.Ser579=) c.1479T= (p.Ser493=) c.1359T= (p.Ser453=) c.1733T= c.975T= (p.Ser325=) c.1356T= (p.Ser452=) c.1098T= (p.Ser366=) c.200T= n.1629T= n.1596T= | |
19 | g.11113656G>A | CA404086326 | LDLR | c.1738G>A (p.Val580Ile) c.1480G>A (p.Val494Ile) c.1360G>A (p.Val454Ile) c.1734G>A c.976G>A (p.Val326Ile) c.1357G>A (p.Val453Ile) c.1099G>A (p.Val367Ile) c.201G>A n.1630G>A n.1597G>A | |
19 | g.11113656G>C | CA404086327 | LDLR | c.1738G>C (p.Val580Leu) c.1480G>C (p.Val494Leu) c.1360G>C (p.Val454Leu) c.1734G>C c.976G>C (p.Val326Leu) c.1357G>C (p.Val453Leu) c.1099G>C (p.Val367Leu) c.201G>C n.1630G>C n.1597G>C | |
19 | g.11113656G>T | CA404086329 | LDLR | c.1738G>T (p.Val580Phe) c.1480G>T (p.Val494Phe) c.1360G>T (p.Val454Phe) c.1734G>T c.976G>T (p.Val326Phe) c.1357G>T (p.Val453Phe) c.1099G>T (p.Val367Phe) c.201G>T n.1630G>T n.1597G>T | |
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.11113657T>A | CA404086334 | LDLR | c.1739T>A (p.Val580Asp) c.1481T>A (p.Val494Asp) c.1361T>A (p.Val454Asp) c.1735T>A c.977T>A (p.Val326Asp) c.1358T>A (p.Val453Asp) c.1100T>A (p.Val367Asp) c.202T>A n.1631T>A n.1598T>A | |
19 | g.11113657T>C | CA404086336 | LDLR | c.1739T>C (p.Val580Ala) c.1481T>C (p.Val494Ala) c.1361T>C (p.Val454Ala) c.1735T>C c.977T>C (p.Val326Ala) c.1358T>C (p.Val453Ala) c.1100T>C (p.Val367Ala) c.202T>C n.1631T>C n.1598T>C | |
19 | g.11113657T>G | CA404086338 | LDLR | c.1739T>G (p.Val580Gly) c.1481T>G (p.Val494Gly) c.1361T>G (p.Val454Gly) c.1735T>G c.977T>G (p.Val326Gly) c.1358T>G (p.Val453Gly) c.1100T>G (p.Val367Gly) c.202T>G n.1631T>G n.1598T>G | |
19 | g.11113658C>A | CA505743259 | LDLR | c.1740C>A (p.Val580=) c.1482C>A (p.Val494=) c.1362C>A (p.Val454=) c.1736C>A c.978C>A (p.Val326=) c.1359C>A (p.Val453=) c.1101C>A (p.Val367=) c.203C>A n.1632C>A n.1599C>A | |
19 | g.11113658C= | CA2322771976 | LDLR | c.1740C= (p.Val580=) c.1482C= (p.Val494=) c.1362C= (p.Val454=) c.1736C= c.978C= (p.Val326=) c.1359C= (p.Val453=) c.1101C= (p.Val367=) c.203C= n.1632C= n.1599C= | |
19 | g.11113658C>G | CA034482 | LDLR | c.1740C>G (p.Val580=) c.1482C>G (p.Val494=) c.1362C>G (p.Val454=) c.1736C>G c.978C>G (p.Val326=) c.1359C>G (p.Val453=) c.1101C>G (p.Val367=) c.203C>G n.1632C>G n.1599C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.11113658C>T | CA505743257 | LDLR | c.1740C>T (p.Val580=) c.1482C>T (p.Val494=) c.1362C>T (p.Val454=) c.1736C>T c.978C>T (p.Val326=) c.1359C>T (p.Val453=) c.1101C>T (p.Val367=) c.203C>T n.1632C>T n.1599C>T | |
19 | g.11113659C>A | CA404086344 | LDLR | c.1741C>A (p.Leu581Met) c.1483C>A (p.Leu495Met) c.1363C>A (p.Leu455Met) c.1737C>A c.979C>A (p.Leu327Met) c.1360C>A (p.Leu454Met) c.1102C>A (p.Leu368Met) c.204C>A n.1633C>A n.1600C>A | |
19 | g.11113659C= | CA2322771977 | LDLR | c.1741C= (p.Leu581=) c.1483C= (p.Leu495=) c.1363C= (p.Leu455=) c.1737C= c.979C= (p.Leu327=) c.1360C= (p.Leu454=) c.1102C= (p.Leu368=) c.204C= n.1633C= n.1600C= | |
19 | g.11113659C>G | CA404086346 | LDLR | c.1741C>G (p.Leu581Val) c.1483C>G (p.Leu495Val) c.1363C>G (p.Leu455Val) c.1737C>G c.979C>G (p.Leu327Val) c.1360C>G (p.Leu454Val) c.1102C>G (p.Leu368Val) c.204C>G n.1633C>G n.1600C>G | ClinVar dbSNP gnomAD v4 |
19 | g.11113659C>T | CA505743264 | LDLR | c.1741C>T (p.Leu581=) c.1483C>T (p.Leu495=) c.1363C>T (p.Leu455=) c.1737C>T c.979C>T (p.Leu327=) c.1360C>T (p.Leu454=) c.1102C>T (p.Leu368=) c.204C>T n.1633C>T n.1600C>T | ClinVar dbSNP |
19 | g.11113660T>A | CA404086355 | LDLR | c.1742T>A (p.Leu581Gln) c.1484T>A (p.Leu495Gln) c.1364T>A (p.Leu455Gln) c.1738T>A c.980T>A (p.Leu327Gln) c.1361T>A (p.Leu454Gln) c.1103T>A (p.Leu368Gln) c.205T>A n.1634T>A n.1601T>A | |
19 | g.11113660T>C | CA404086354 | LDLR | c.1742T>C (p.Leu581Pro) c.1484T>C (p.Leu495Pro) c.1364T>C (p.Leu455Pro) c.1738T>C c.980T>C (p.Leu327Pro) c.1361T>C (p.Leu454Pro) c.1103T>C (p.Leu368Pro) c.205T>C n.1634T>C n.1601T>C | dbSNP gnomAD v3 gnomAD v4 |
19 | g.11113660T>G | CA404086351 | LDLR | c.1742T>G (p.Leu581Arg) c.1484T>G (p.Leu495Arg) c.1364T>G (p.Leu455Arg) c.1738T>G c.980T>G (p.Leu327Arg) c.1361T>G (p.Leu454Arg) c.1103T>G (p.Leu368Arg) c.205T>G n.1634T>G n.1601T>G | ClinVar dbSNP |
19 | g.11113660T= | CA2322771979 | LDLR | c.1742T= (p.Leu581=) c.1484T= (p.Leu495=) c.1364T= (p.Leu455=) c.1738T= c.980T= (p.Leu327=) c.1361T= (p.Leu454=) c.1103T= (p.Leu368=) c.205T= n.1634T= n.1601T= | |
19 | g.11113660_11113662delinsTGG | CA2322771978 | LDLR | c.1742_1744delinsTGG (p.Leu581=) c.1484_1486delinsTGG (p.Leu495=) c.1364_1366delinsTGG (p.Leu455=) c.1738_1740delinsTGG c.980_982delinsTGG (p.Leu327=) c.1361_1363delinsTGG (p.Leu454=) c.1103_1105delinsTGG (p.Leu368=) c.205_207delinsTGG n.1634_1636delinsTGG n.1601_1603delinsTGG | |
19 | g.11113661G>A | CA505743265 | LDLR | c.1743G>A (p.Leu581=) c.1485G>A (p.Leu495=) c.1365G>A (p.Leu455=) c.1739G>A c.981G>A (p.Leu327=) c.1362G>A (p.Leu454=) c.1104G>A (p.Leu368=) c.206G>A n.1635G>A n.1602G>A | ClinVar |
19 | g.11113661G>C | CA505743266 | LDLR | c.1743G>C (p.Leu581=) c.1485G>C (p.Leu495=) c.1365G>C (p.Leu455=) c.1739G>C c.981G>C (p.Leu327=) c.1362G>C (p.Leu454=) c.1104G>C (p.Leu368=) c.206G>C n.1635G>C n.1602G>C | |
19 | g.11113661G>T | CA505743267 | LDLR | c.1743G>T (p.Leu581=) c.1485G>T (p.Leu495=) c.1365G>T (p.Leu455=) c.1739G>T c.981G>T (p.Leu327=) c.1362G>T (p.Leu454=) c.1104G>T (p.Leu368=) c.206G>T n.1635G>T n.1602G>T | |
19 | g.11113662_11113663del | CA351943 | LDLR | c.1744_1745del (p.Gly582HisfsTer?) c.1486_1487del (p.Gly496HisfsTer?) c.1366_1367del (p.Gly456HisfsTer?) c.1740_1741del c.982_983del (p.Gly328HisfsTer?) c.1363_1364del (p.Gly455HisfsTer?) c.1105_1106del (p.Gly369HisfsTer?) c.207_208del n.1636_1637del n.1603_1604del | ClinVar dbSNP |
19 | g.11113662G>A | CA404086362 | LDLR | c.1744G>A (p.Gly582Ser) c.1486G>A (p.Gly496Ser) c.1366G>A (p.Gly456Ser) c.1740G>A c.982G>A (p.Gly328Ser) c.1363G>A (p.Gly455Ser) c.1105G>A (p.Gly369Ser) c.207G>A n.1636G>A n.1603G>A | gnomAD v4 |
19 | g.11113662G>C | CA404086364 | LDLR | c.1744G>C (p.Gly582Arg) c.1486G>C (p.Gly496Arg) c.1366G>C (p.Gly456Arg) c.1740G>C c.982G>C (p.Gly328Arg) c.1363G>C (p.Gly455Arg) c.1105G>C (p.Gly369Arg) c.207G>C n.1636G>C n.1603G>C | |
19 | g.11113662G>T | CA404086367 | LDLR | c.1744G>T (p.Gly582Cys) c.1486G>T (p.Gly496Cys) c.1366G>T (p.Gly456Cys) c.1740G>T c.982G>T (p.Gly328Cys) c.1363G>T (p.Gly455Cys) c.1105G>T (p.Gly369Cys) c.207G>T n.1636G>T n.1603G>T | COSMIC |
19 | g.11113663G>A | CA404086372 | LDLR | c.1745G>A (p.Gly582Asp) c.1487G>A (p.Gly496Asp) c.1367G>A (p.Gly456Asp) c.1741G>A c.983G>A (p.Gly328Asp) c.1364G>A (p.Gly455Asp) c.1106G>A (p.Gly369Asp) c.208G>A n.1637G>A n.1604G>A | |
19 | g.11113663G>C | CA305300122 | LDLR | c.1745G>C (p.Gly582Ala) c.1487G>C (p.Gly496Ala) c.1367G>C (p.Gly456Ala) c.1741G>C c.983G>C (p.Gly328Ala) c.1364G>C (p.Gly455Ala) c.1106G>C (p.Gly369Ala) c.208G>C n.1637G>C n.1604G>C | dbSNP |
19 | g.11113663G= | CA2322771980 | LDLR | c.1745G= (p.Gly582=) c.1487G= (p.Gly496=) c.1367G= (p.Gly456=) c.1741G= c.983G= (p.Gly328=) c.1364G= (p.Gly455=) c.1106G= (p.Gly369=) c.208G= n.1637G= n.1604G= | |
19 | g.11113663G>T | CA10585477 | LDLR | c.1745G>T (p.Gly582Val) c.1487G>T (p.Gly496Val) c.1367G>T (p.Gly456Val) c.1741G>T c.983G>T (p.Gly328Val) c.1364G>T (p.Gly455Val) c.1106G>T (p.Gly369Val) c.208G>T n.1637G>T n.1604G>T | ClinVar dbSNP |
19 | g.11113664C>A | CA505743270 | LDLR | c.1746C>A (p.Gly582=) c.1488C>A (p.Gly496=) c.1368C>A (p.Gly456=) c.1742C>A c.984C>A (p.Gly328=) c.1365C>A (p.Gly455=) c.1107C>A (p.Gly369=) c.209C>A n.1638C>A n.1605C>A | dbSNP |
19 | g.11113664C= | CA2322771981 | LDLR | c.1746C= (p.Gly582=) c.1488C= (p.Gly496=) c.1368C= (p.Gly456=) c.1742C= c.984C= (p.Gly328=) c.1365C= (p.Gly455=) c.1107C= (p.Gly369=) c.209C= n.1638C= n.1605C= | |
19 | g.11113664C>G | CA505743271 | LDLR | c.1746C>G (p.Gly582=) c.1488C>G (p.Gly496=) c.1368C>G (p.Gly456=) c.1742C>G c.984C>G (p.Gly328=) c.1365C>G (p.Gly455=) c.1107C>G (p.Gly369=) c.209C>G n.1638C>G n.1605C>G | |
19 | g.11113664C>T | CA505743272 | LDLR | c.1746C>T (p.Gly582=) c.1488C>T (p.Gly496=) c.1368C>T (p.Gly456=) c.1742C>T c.984C>T (p.Gly328=) c.1365C>T (p.Gly455=) c.1107C>T (p.Gly369=) c.209C>T n.1638C>T n.1605C>T | dbSNP gnomAD v4 |
19 | g.11113665A= | CA2322771982 | LDLR | c.1747A= (p.Thr583=) c.1489A= (p.Thr497=) c.1369A= (p.Thr457=) c.1743A= c.985A= (p.Thr329=) c.1366A= (p.Thr456=) c.1108A= (p.Thr370=) c.210A= n.1639A= n.1606A= | |
19 | g.11113665A>C | CA10585478 | LDLR | c.1747A>C (p.Thr583Pro) c.1489A>C (p.Thr497Pro) c.1369A>C (p.Thr457Pro) c.1743A>C c.985A>C (p.Thr329Pro) c.1366A>C (p.Thr456Pro) c.1108A>C (p.Thr370Pro) c.210A>C n.1639A>C n.1606A>C | ClinVar dbSNP gnomAD v4 |
19 | g.11113665A>G | CA404086381 | LDLR | c.1747A>G (p.Thr583Ala) c.1489A>G (p.Thr497Ala) c.1369A>G (p.Thr457Ala) c.1743A>G c.985A>G (p.Thr329Ala) c.1366A>G (p.Thr456Ala) c.1108A>G (p.Thr370Ala) c.210A>G n.1639A>G n.1606A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11113665A>T | CA404086382 | LDLR | c.1747A>T (p.Thr583Ser) c.1489A>T (p.Thr497Ser) c.1369A>T (p.Thr457Ser) c.1743A>T c.985A>T (p.Thr329Ser) c.1366A>T (p.Thr456Ser) c.1108A>T (p.Thr370Ser) c.210A>T n.1639A>T n.1606A>T | |
19 | g.11113665_11113666delinsAC | CA2322771983 | LDLR | c.1747_1748delinsAC (p.Thr583=) c.1489_1490delinsAC (p.Thr497=) c.1369_1370delinsAC (p.Thr457=) c.1743_1744delinsAC c.985_986delinsAC (p.Thr329=) c.1366_1367delinsAC (p.Thr456=) c.1108_1109delinsAC (p.Thr370=) c.210_211delinsAC n.1639_1640delinsAC n.1606_1607delinsAC | |
19 | g.11113666del | CA916081223 | LDLR | c.1748del (p.Thr583MetfsTer10) c.1490del (p.Thr497MetfsTer10) c.1370del (p.Thr457MetfsTer10) c.1744del c.986del (p.Thr329MetfsTer10) c.1367del (p.Thr456MetfsTer10) c.1109del (p.Thr370MetfsTer10) c.211del n.1640del n.1607del | ClinVar dbSNP |
19 | g.11113666C>A | CA404086384 | LDLR | c.1748C>A (p.Thr583Asn) c.1490C>A (p.Thr497Asn) c.1370C>A (p.Thr457Asn) c.1744C>A c.986C>A (p.Thr329Asn) c.1367C>A (p.Thr456Asn) c.1109C>A (p.Thr370Asn) c.211C>A n.1640C>A n.1607C>A | dbSNP |
19 | g.11113666C= | CA2322771984 | LDLR | c.1748C= (p.Thr583=) c.1490C= (p.Thr497=) c.1370C= (p.Thr457=) c.1744C= c.986C= (p.Thr329=) c.1367C= (p.Thr456=) c.1109C= (p.Thr370=) c.211C= n.1640C= n.1607C= | |
19 | g.11113666C>G | CA404086386 | LDLR | c.1748C>G (p.Thr583Ser) c.1490C>G (p.Thr497Ser) c.1370C>G (p.Thr457Ser) c.1744C>G c.986C>G (p.Thr329Ser) c.1367C>G (p.Thr456Ser) c.1109C>G (p.Thr370Ser) c.211C>G n.1640C>G n.1607C>G | |
19 | g.11113666C>T | CA404086389 | LDLR | c.1748C>T (p.Thr583Ile) c.1490C>T (p.Thr497Ile) c.1370C>T (p.Thr457Ile) c.1744C>T c.986C>T (p.Thr329Ile) c.1367C>T (p.Thr456Ile) c.1109C>T (p.Thr370Ile) c.211C>T n.1640C>T n.1607C>T | |
19 | g.11113666_11113668delinsCTG | CA2322771985 | LDLR | c.1748_1750delinsCTG (p.Thr583=) c.1490_1492delinsCTG (p.Thr497=) c.1370_1372delinsCTG (p.Thr457=) c.1744_1746delinsCTG c.986_988delinsCTG (p.Thr329=) c.1367_1369delinsCTG (p.Thr456=) c.1109_1111delinsCTG (p.Thr370=) c.211_213delinsCTG n.1640_1642delinsCTG n.1607_1609delinsCTG | |
19 | g.11113667del | CA2695228115 | LDLR | c.1749del (p.Val584SerfsTer9) c.1491del (p.Val498SerfsTer9) c.1371del (p.Val458SerfsTer9) c.1745del c.987del (p.Val330SerfsTer9) c.1368del (p.Val457SerfsTer9) c.1110del (p.Val371SerfsTer9) c.212del n.1641del n.1608del | |
19 | g.11113667T>A | CA505743273 | LDLR | c.1749T>A (p.Thr583=) c.1491T>A (p.Thr497=) c.1371T>A (p.Thr457=) c.1745T>A c.987T>A (p.Thr329=) c.1368T>A (p.Thr456=) c.1110T>A (p.Thr370=) c.212T>A n.1641T>A n.1608T>A | dbSNP |
19 | g.11113667T>C | CA034496 | LDLR | c.1749T>C (p.Thr583=) c.1491T>C (p.Thr497=) c.1371T>C (p.Thr457=) c.1745T>C c.987T>C (p.Thr329=) c.1368T>C (p.Thr456=) c.1110T>C (p.Thr370=) c.212T>C n.1641T>C n.1608T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11113667T>G | CA505743274 | LDLR | c.1749T>G (p.Thr583=) c.1491T>G (p.Thr497=) c.1371T>G (p.Thr457=) c.1745T>G c.987T>G (p.Thr329=) c.1368T>G (p.Thr456=) c.1110T>G (p.Thr370=) c.212T>G n.1641T>G n.1608T>G | |
19 | g.11113667T= | CA2322771986 | LDLR | c.1749T= (p.Thr583=) c.1491T= (p.Thr497=) c.1371T= (p.Thr457=) c.1745T= c.987T= (p.Thr329=) c.1368T= (p.Thr456=) c.1110T= (p.Thr370=) c.212T= n.1641T= n.1608T= | |
19 | g.11113668_11113669del | CA1139666272 | LDLR | c.1750_1751del (p.Val584LeufsTer?) c.1492_1493del (p.Val498LeufsTer?) c.1372_1373del (p.Val458LeufsTer?) c.1746_1747del c.988_989del (p.Val330LeufsTer?) c.1369_1370del (p.Val457LeufsTer?) c.1111_1112del (p.Val371LeufsTer?) c.213_214del n.1642_1643del n.1609_1610del | ClinVar dbSNP |
19 | g.11113668G>A | CA034518 | LDLR | c.1750G>A (p.Val584Ile) c.1492G>A (p.Val498Ile) c.1372G>A (p.Val458Ile) c.1746G>A c.988G>A (p.Val330Ile) c.1369G>A (p.Val457Ile) c.1111G>A (p.Val371Ile) c.213G>A n.1642G>A n.1609G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.11113668G>C | CA404086398 | LDLR | c.1750G>C (p.Val584Leu) c.1492G>C (p.Val498Leu) c.1372G>C (p.Val458Leu) c.1746G>C c.988G>C (p.Val330Leu) c.1369G>C (p.Val457Leu) c.1111G>C (p.Val371Leu) c.213G>C n.1642G>C n.1609G>C | ClinVar |
19 | g.11113668G= | CA2322771987 | LDLR | c.1750G= (p.Val584=) c.1492G= (p.Val498=) c.1372G= (p.Val458=) c.1746G= c.988G= (p.Val330=) c.1369G= (p.Val457=) c.1111G= (p.Val371=) c.213G= n.1642G= n.1609G= | |
19 | g.11113668G>T | CA10585479 | LDLR | c.1750G>T (p.Val584Phe) c.1492G>T (p.Val498Phe) c.1372G>T (p.Val458Phe) c.1746G>T c.988G>T (p.Val330Phe) c.1369G>T (p.Val457Phe) c.1111G>T (p.Val371Phe) c.213G>T n.1642G>T n.1609G>T | ClinVar dbSNP |
19 | g.11113668_11113670delinsGTC | CA2322771988 | LDLR | c.1750_1752delinsGTC (p.Val584=) c.1492_1494delinsGTC (p.Val498=) c.1372_1374delinsGTC (p.Val458=) c.1746_1748delinsGTC c.988_990delinsGTC (p.Val330=) c.1369_1371delinsGTC (p.Val457=) c.1111_1113delinsGTC (p.Val371=) c.213_215delinsGTC n.1642_1644delinsGTC n.1609_1611delinsGTC | |
19 | g.11113669T>A | CA404086402 | LDLR | c.1751T>A (p.Val584Asp) c.1493T>A (p.Val498Asp) c.1373T>A (p.Val458Asp) c.1747T>A c.989T>A (p.Val330Asp) c.1370T>A (p.Val457Asp) c.1112T>A (p.Val371Asp) c.214T>A n.1643T>A n.1610T>A | |
19 | g.11113669T>C | CA404086407 | LDLR | c.1751T>C (p.Val584Ala) c.1493T>C (p.Val498Ala) c.1373T>C (p.Val458Ala) c.1747T>C c.989T>C (p.Val330Ala) c.1370T>C (p.Val457Ala) c.1112T>C (p.Val371Ala) c.214T>C n.1643T>C n.1610T>C | |
19 | g.11113669T>G | CA404086410 | LDLR | c.1751T>G (p.Val584Gly) c.1493T>G (p.Val498Gly) c.1373T>G (p.Val458Gly) c.1747T>G c.989T>G (p.Val330Gly) c.1370T>G (p.Val457Gly) c.1112T>G (p.Val371Gly) c.214T>G n.1643T>G n.1610T>G | |
19 | g.11113672_11113673del | CA10585481 | LDLR | c.1754_1755del (p.Ser585CysfsTer?) c.1496_1497del (p.Ser499CysfsTer?) c.1376_1377del (p.Ser459CysfsTer?) c.1750_1751del c.992_993del (p.Ser331CysfsTer?) c.1373_1374del (p.Ser458CysfsTer?) c.1115_1116del (p.Ser372CysfsTer?) c.217_218del n.1646_1647del n.1613_1614del | ClinVar dbSNP |
19 | g.11113670C>A | CA505743275 | LDLR | c.1752C>A (p.Val584=) c.1494C>A (p.Val498=) c.1374C>A (p.Val458=) c.1748C>A c.990C>A (p.Val330=) c.1371C>A (p.Val457=) c.1113C>A (p.Val371=) c.215C>A n.1644C>A n.1611C>A | |
19 | g.11113670C= | CA2322771989 | LDLR | c.1752C= (p.Val584=) c.1494C= (p.Val498=) c.1374C= (p.Val458=) c.1748C= c.990C= (p.Val330=) c.1371C= (p.Val457=) c.1113C= (p.Val371=) c.215C= n.1644C= n.1611C= | |
19 | g.11113670C>G | CA505743276 | LDLR | c.1752C>G (p.Val584=) c.1494C>G (p.Val498=) c.1374C>G (p.Val458=) c.1748C>G c.990C>G (p.Val330=) c.1371C>G (p.Val457=) c.1113C>G (p.Val371=) c.215C>G n.1644C>G n.1611C>G | ClinVar dbSNP |
19 | g.11113670C>T | CA305300126 | LDLR | c.1752C>T (p.Val584=) c.1494C>T (p.Val498=) c.1374C>T (p.Val458=) c.1748C>T c.990C>T (p.Val330=) c.1371C>T (p.Val457=) c.1113C>T (p.Val371=) c.215C>T n.1644C>T n.1611C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.11113671T>A | CA404086414 | LDLR | c.1753T>A (p.Ser585Thr) c.1495T>A (p.Ser499Thr) c.1375T>A (p.Ser459Thr) c.1749T>A c.991T>A (p.Ser331Thr) c.1372T>A (p.Ser458Thr) c.1114T>A (p.Ser372Thr) c.216T>A n.1645T>A n.1612T>A | |
19 | g.11113671T>C | CA10585480 | LDLR | c.1753T>C (p.Ser585Pro) c.1495T>C (p.Ser499Pro) c.1375T>C (p.Ser459Pro) c.1749T>C c.991T>C (p.Ser331Pro) c.1372T>C (p.Ser458Pro) c.1114T>C (p.Ser372Pro) c.216T>C n.1645T>C n.1612T>C | ClinVar dbSNP |
19 | g.11113671T>G | CA404086417 | LDLR | c.1753T>G (p.Ser585Ala) c.1495T>G (p.Ser499Ala) c.1375T>G (p.Ser459Ala) c.1749T>G c.991T>G (p.Ser331Ala) c.1372T>G (p.Ser458Ala) c.1114T>G (p.Ser372Ala) c.216T>G n.1645T>G n.1612T>G | |
19 | g.11113671T= | CA2322771990 | LDLR | c.1753T= (p.Ser585=) c.1495T= (p.Ser499=) c.1375T= (p.Ser459=) c.1749T= c.991T= (p.Ser331=) c.1372T= (p.Ser458=) c.1114T= (p.Ser372=) c.216T= n.1645T= n.1612T= | |
19 | g.11113672C>A | CA404086421 | LDLR | c.1754C>A (p.Ser585Tyr) c.1496C>A (p.Ser499Tyr) c.1376C>A (p.Ser459Tyr) c.1750C>A c.992C>A (p.Ser331Tyr) c.1373C>A (p.Ser458Tyr) c.1115C>A (p.Ser372Tyr) c.217C>A n.1646C>A n.1613C>A | |
19 | g.11113672C= | CA2322771991 | LDLR | c.1754C= (p.Ser585=) c.1496C= (p.Ser499=) c.1376C= (p.Ser459=) c.1750C= c.992C= (p.Ser331=) c.1373C= (p.Ser458=) c.1115C= (p.Ser372=) c.217C= n.1646C= n.1613C= | |
19 | g.11113672C>G | CA034538 | LDLR | c.1754C>G (p.Ser585Cys) c.1496C>G (p.Ser499Cys) c.1376C>G (p.Ser459Cys) c.1750C>G c.992C>G (p.Ser331Cys) c.1373C>G (p.Ser458Cys) c.1115C>G (p.Ser372Cys) c.217C>G n.1646C>G n.1613C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.11113672C>T | CA404086424 | LDLR | c.1754C>T (p.Ser585Phe) c.1496C>T (p.Ser499Phe) c.1376C>T (p.Ser459Phe) c.1750C>T c.992C>T (p.Ser331Phe) c.1373C>T (p.Ser458Phe) c.1115C>T (p.Ser372Phe) c.217C>T n.1646C>T n.1613C>T | |
19 | g.11113672_11113674delinsCTG | CA2322771992 | LDLR | c.1754_1756delinsCTG (p.Ser585=) c.1496_1498delinsCTG (p.Ser499=) c.1376_1378delinsCTG (p.Ser459=) c.1750_1752delinsCTG c.992_994delinsCTG (p.Ser331=) c.1373_1375delinsCTG (p.Ser458=) c.1115_1117delinsCTG (p.Ser372=) c.217_219delinsCTG n.1646_1648delinsCTG n.1613_1615delinsCTG | |
19 | g.11113673T>A | CA505743280 | LDLR | c.1755T>A (p.Ser585=) c.1497T>A (p.Ser499=) c.1377T>A (p.Ser459=) c.1751T>A c.993T>A (p.Ser331=) c.1374T>A (p.Ser458=) c.1116T>A (p.Ser372=) c.218T>A n.1647T>A n.1614T>A | |
19 | g.11113673T>C | CA034562 | LDLR | c.1755T>C (p.Ser585=) c.1497T>C (p.Ser499=) c.1377T>C (p.Ser459=) c.1751T>C c.993T>C (p.Ser331=) c.1374T>C (p.Ser458=) c.1116T>C (p.Ser372=) c.218T>C n.1647T>C n.1614T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.11113673T>G | CA505743279 | LDLR | c.1755T>G (p.Ser585=) c.1497T>G (p.Ser499=) c.1377T>G (p.Ser459=) c.1751T>G c.993T>G (p.Ser331=) c.1374T>G (p.Ser458=) c.1116T>G (p.Ser372=) c.218T>G n.1647T>G n.1614T>G | |
19 | g.11113673T= | CA2322771993 | LDLR | c.1755T= (p.Ser585=) c.1497T= (p.Ser499=) c.1377T= (p.Ser459=) c.1751T= c.993T= (p.Ser331=) c.1374T= (p.Ser458=) c.1116T= (p.Ser372=) c.218T= n.1647T= n.1614T= | |
19 | g.11113674_11113675del | CA10585482 | LDLR | c.1756_1757del (p.Val586CysfsTer?) c.1498_1499del (p.Val500CysfsTer?) c.1378_1379del (p.Val460CysfsTer?) c.1752_1753del c.994_995del (p.Val332CysfsTer?) c.1375_1376del (p.Val459CysfsTer?) c.1117_1118del (p.Val373CysfsTer?) c.219_220del n.1648_1649del n.1615_1616del | ClinVar dbSNP |
19 | g.11113674del | CA2695228116 | LDLR | c.1756del (p.Val586LeufsTer7) c.1498del (p.Val500LeufsTer7) c.1378del (p.Val460LeufsTer7) c.1752del c.994del (p.Val332LeufsTer7) c.1375del (p.Val459LeufsTer7) c.1117del (p.Val373LeufsTer7) c.219del n.1648del n.1615del | |
19 | g.11113674G>A | CA404086433 | LDLR | c.1756G>A (p.Val586Ile) c.1498G>A (p.Val500Ile) c.1378G>A (p.Val460Ile) c.1752G>A c.994G>A (p.Val332Ile) c.1375G>A (p.Val459Ile) c.1117G>A (p.Val373Ile) c.219G>A n.1648G>A n.1615G>A | |
19 | g.11113674G>C | CA404086440 | LDLR | c.1756G>C (p.Val586Leu) c.1498G>C (p.Val500Leu) c.1378G>C (p.Val460Leu) c.1752G>C c.994G>C (p.Val332Leu) c.1375G>C (p.Val459Leu) c.1117G>C (p.Val373Leu) c.219G>C n.1648G>C n.1615G>C | |
19 | g.11113674G>T | CA404086436 | LDLR | c.1756G>T (p.Val586Phe) c.1498G>T (p.Val500Phe) c.1378G>T (p.Val460Phe) c.1752G>T c.994G>T (p.Val332Phe) c.1375G>T (p.Val459Phe) c.1117G>T (p.Val373Phe) c.219G>T n.1648G>T n.1615G>T | |
19 | g.11113675T>A | CA404086443 | LDLR | c.1757T>A (p.Val586Asp) c.1499T>A (p.Val500Asp) c.1379T>A (p.Val460Asp) c.1753T>A c.995T>A (p.Val332Asp) c.1376T>A (p.Val459Asp) c.1118T>A (p.Val373Asp) c.220T>A n.1649T>A n.1616T>A | |
19 | g.11113675T>C | CA10588896 | LDLR | c.1757T>C (p.Val586Ala) c.1499T>C (p.Val500Ala) c.1379T>C (p.Val460Ala) c.1753T>C c.995T>C (p.Val332Ala) c.1376T>C (p.Val459Ala) c.1118T>C (p.Val373Ala) c.220T>C n.1649T>C n.1616T>C | ClinVar dbSNP |
19 | g.11113675T>G | CA404086447 | LDLR | c.1757T>G (p.Val586Gly) c.1499T>G (p.Val500Gly) c.1379T>G (p.Val460Gly) c.1753T>G c.995T>G (p.Val332Gly) c.1376T>G (p.Val459Gly) c.1118T>G (p.Val373Gly) c.220T>G n.1649T>G n.1616T>G | |
19 | g.11113675T= | CA2322771994 | LDLR | c.1757T= (p.Val586=) c.1499T= (p.Val500=) c.1379T= (p.Val460=) c.1753T= c.995T= (p.Val332=) c.1376T= (p.Val459=) c.1118T= (p.Val373=) c.220T= n.1649T= n.1616T= | |
19 | g.11113676T>A | CA505743283 | LDLR | c.1758T>A (p.Val586=) c.1500T>A (p.Val500=) c.1380T>A (p.Val460=) c.1754T>A c.996T>A (p.Val332=) c.1377T>A (p.Val459=) c.1119T>A (p.Val373=) c.221T>A n.1650T>A n.1617T>A | gnomAD v4 |
19 | g.11113676T>C | CA505743281 | LDLR | c.1758T>C (p.Val586=) c.1500T>C (p.Val500=) c.1380T>C (p.Val460=) c.1754T>C c.996T>C (p.Val332=) c.1377T>C (p.Val459=) c.1119T>C (p.Val373=) c.221T>C n.1650T>C n.1617T>C | |
19 | g.11113676T>G | CA505743282 | LDLR | c.1758T>G (p.Val586=) c.1500T>G (p.Val500=) c.1380T>G (p.Val460=) c.1754T>G c.996T>G (p.Val332=) c.1377T>G (p.Val459=) c.1119T>G (p.Val373=) c.221T>G n.1650T>G n.1617T>G | |
19 | g.11113677G>A | CA404086451 | LDLR | c.1759G>A (p.Ala587Thr) c.1501G>A (p.Ala501Thr) c.1381G>A (p.Ala461Thr) c.1755G>A c.997G>A (p.Ala333Thr) c.1378G>A (p.Ala460Thr) c.1120G>A (p.Ala374Thr) c.222G>A n.1651G>A n.1618G>A | ClinVar dbSNP |
19 | g.11113677G>C | CA404086457 | LDLR | c.1759G>C (p.Ala587Pro) c.1501G>C (p.Ala501Pro) c.1381G>C (p.Ala461Pro) c.1755G>C c.997G>C (p.Ala333Pro) c.1378G>C (p.Ala460Pro) c.1120G>C (p.Ala374Pro) c.222G>C n.1651G>C n.1618G>C | |
19 | g.11113677G= | CA2322771995 | LDLR | c.1759G= (p.Ala587=) c.1501G= (p.Ala501=) c.1381G= (p.Ala461=) c.1755G= c.997G= (p.Ala333=) c.1378G= (p.Ala460=) c.1120G= (p.Ala374=) c.222G= n.1651G= n.1618G= | |
19 | g.11113677G>T | CA404086454 | LDLR | c.1759G>T (p.Ala587Ser) c.1501G>T (p.Ala501Ser) c.1381G>T (p.Ala461Ser) c.1755G>T c.997G>T (p.Ala333Ser) c.1378G>T (p.Ala460Ser) c.1120G>T (p.Ala374Ser) c.222G>T n.1651G>T n.1618G>T | gnomAD v4 |
19 | g.11113677_11113678delinsAG | CA2837994631 | LDLR | c.1759_1760delinsAG (p.Ala587Arg) c.1501_1502delinsAG (p.Ala501Arg) c.1381_1382delinsAG (p.Ala461Arg) c.1755_1756delinsAG c.997_998delinsAG (p.Ala333Arg) c.1378_1379delinsAG (p.Ala460Arg) c.1120_1121delinsAG (p.Ala374Arg) c.222_223delinsAG n.1651_1652delinsAG n.1618_1619delinsAG | |
19 | g.11113678C>A | CA10585483 | LDLR | c.1760C>A (p.Ala587Glu) c.1502C>A (p.Ala501Glu) c.1382C>A (p.Ala461Glu) c.1756C>A c.998C>A (p.Ala333Glu) c.1379C>A (p.Ala460Glu) c.1121C>A (p.Ala374Glu) c.223C>A n.1652C>A n.1619C>A | ClinVar dbSNP gnomAD v4 COSMIC |
19 | g.11113678C= | CA2322771996 | LDLR | c.1760C= (p.Ala587=) c.1502C= (p.Ala501=) c.1382C= (p.Ala461=) c.1756C= c.998C= (p.Ala333=) c.1379C= (p.Ala460=) c.1121C= (p.Ala374=) c.223C= n.1652C= n.1619C= | |
19 | g.11113678C>G | CA404086462 | LDLR | c.1760C>G (p.Ala587Gly) c.1502C>G (p.Ala501Gly) c.1382C>G (p.Ala461Gly) c.1756C>G c.998C>G (p.Ala333Gly) c.1379C>G (p.Ala460Gly) c.1121C>G (p.Ala374Gly) c.223C>G n.1652C>G n.1619C>G | ClinVar dbSNP |
19 | g.11113678C>T | CA034573 | LDLR | c.1760C>T (p.Ala587Val) c.1502C>T (p.Ala501Val) c.1382C>T (p.Ala461Val) c.1756C>T c.998C>T (p.Ala333Val) c.1379C>T (p.Ala460Val) c.1121C>T (p.Ala374Val) c.223C>T n.1652C>T n.1619C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
19 | g.11113678dup | CA10585484 | LDLR | c.1760dup (p.Asp588GlyfsTer?) c.1502dup (p.Asp502GlyfsTer?) c.1382dup (p.Asp462GlyfsTer?) c.1756dup c.998dup (p.Asp334GlyfsTer?) c.1379dup (p.Asp461GlyfsTer?) c.1121dup (p.Asp375GlyfsTer?) c.223dup n.1652dup n.1619dup | ClinVar dbSNP |
19 | g.11113679G>A | CA034586 | LDLR | c.1761G>A (p.Ala587=) c.1503G>A (p.Ala501=) c.1383G>A (p.Ala461=) c.1757G>A c.999G>A (p.Ala333=) c.1380G>A (p.Ala460=) c.1122G>A (p.Ala374=) c.224G>A n.1653G>A n.1620G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11113679G>C | CA505743285 | LDLR | c.1761G>C (p.Ala587=) c.1503G>C (p.Ala501=) c.1383G>C (p.Ala461=) c.1757G>C c.999G>C (p.Ala333=) c.1380G>C (p.Ala460=) c.1122G>C (p.Ala374=) c.224G>C n.1653G>C n.1620G>C | ClinVar dbSNP |
19 | g.11113679G= | CA2322771997 | LDLR | c.1761G= (p.Ala587=) c.1503G= (p.Ala501=) c.1383G= (p.Ala461=) c.1757G= c.999G= (p.Ala333=) c.1380G= (p.Ala460=) c.1122G= (p.Ala374=) c.224G= n.1653G= n.1620G= | |
19 | g.11113679G>T | CA505743284 | LDLR | c.1761G>T (p.Ala587=) c.1503G>T (p.Ala501=) c.1383G>T (p.Ala461=) c.1757G>T c.999G>T (p.Ala333=) c.1380G>T (p.Ala460=) c.1122G>T (p.Ala374=) c.224G>T n.1653G>T n.1620G>T | |
19 | g.11113679_11113680dup | CA2499225320 | LDLR | c.1761_1762dup (p.Asp588GlyfsTer6) c.1503_1504dup (p.Asp502GlyfsTer6) c.1383_1384dup (p.Asp462GlyfsTer6) c.1757_1758dup c.999_1000dup (p.Asp334GlyfsTer6) c.1380_1381dup (p.Asp461GlyfsTer6) c.1122_1123dup (p.Asp375GlyfsTer6) c.224_225dup n.1653_1654dup n.1620_1621dup | ClinVar dbSNP |
19 | g.11113680G>A | CA404086468 | LDLR | c.1762G>A (p.Asp588Asn) c.1504G>A (p.Asp502Asn) c.1384G>A (p.Asp462Asn) c.1758G>A c.1000G>A (p.Asp334Asn) c.1381G>A (p.Asp461Asn) c.1123G>A (p.Asp375Asn) c.225G>A n.1654G>A n.1621G>A | |
19 | g.11113680G>C | CA404086470 | LDLR | c.1762G>C (p.Asp588His) c.1504G>C (p.Asp502His) c.1384G>C (p.Asp462His) c.1758G>C c.1000G>C (p.Asp334His) c.1381G>C (p.Asp461His) c.1123G>C (p.Asp375His) c.225G>C n.1654G>C n.1621G>C | |
19 | g.11113680G= | CA2322771998 | LDLR | c.1762G= (p.Asp588=) c.1504G= (p.Asp502=) c.1384G= (p.Asp462=) c.1758G= c.1000G= (p.Asp334=) c.1381G= (p.Asp461=) c.1123G= (p.Asp375=) c.225G= n.1654G= n.1621G= | |
19 | g.11113680G>T | CA10585485 | LDLR | c.1762G>T (p.Asp588Tyr) c.1504G>T (p.Asp502Tyr) c.1384G>T (p.Asp462Tyr) c.1758G>T c.1000G>T (p.Asp334Tyr) c.1381G>T (p.Asp461Tyr) c.1123G>T (p.Asp375Tyr) c.225G>T n.1654G>T n.1621G>T | ClinVar dbSNP |
19 | g.11113681A>C | CA404086474 | LDLR | c.1763A>C (p.Asp588Ala) c.1505A>C (p.Asp502Ala) c.1385A>C (p.Asp462Ala) c.1759A>C c.1001A>C (p.Asp334Ala) c.1382A>C (p.Asp461Ala) c.1124A>C (p.Asp375Ala) c.226A>C n.1655A>C n.1622A>C | |
19 | g.11113681A>G | CA404086476 | LDLR | c.1763A>G (p.Asp588Gly) c.1505A>G (p.Asp502Gly) c.1385A>G (p.Asp462Gly) c.1759A>G c.1001A>G (p.Asp334Gly) c.1382A>G (p.Asp461Gly) c.1124A>G (p.Asp375Gly) c.226A>G n.1655A>G n.1622A>G | |
19 | g.11113681A>T | CA404086477 | LDLR | c.1763A>T (p.Asp588Val) c.1505A>T (p.Asp502Val) c.1385A>T (p.Asp462Val) c.1759A>T c.1001A>T (p.Asp334Val) c.1382A>T (p.Asp461Val) c.1124A>T (p.Asp375Val) c.226A>T n.1655A>T n.1622A>T | |
19 | g.11113682T>A | CA404086478 | LDLR | c.1764T>A (p.Asp588Glu) c.1506T>A (p.Asp502Glu) c.1386T>A (p.Asp462Glu) c.1760T>A c.1002T>A (p.Asp334Glu) c.1383T>A (p.Asp461Glu) c.1125T>A (p.Asp375Glu) c.227T>A n.1656T>A n.1623T>A | |
19 | g.11113682T>C | CA505743286 | LDLR | c.1764T>C (p.Asp588=) c.1506T>C (p.Asp502=) c.1386T>C (p.Asp462=) c.1760T>C c.1002T>C (p.Asp334=) c.1383T>C (p.Asp461=) c.1125T>C (p.Asp375=) c.227T>C n.1656T>C n.1623T>C | ClinVar dbSNP |
19 | g.11113682T>G | CA404086479 | LDLR | c.1764T>G (p.Asp588Glu) c.1506T>G (p.Asp502Glu) c.1386T>G (p.Asp462Glu) c.1760T>G c.1002T>G (p.Asp334Glu) c.1383T>G (p.Asp461Glu) c.1125T>G (p.Asp375Glu) c.227T>G n.1656T>G n.1623T>G | |
19 | g.11113682T= | CA2322771999 | LDLR | c.1764T= (p.Asp588=) c.1506T= (p.Asp502=) c.1386T= (p.Asp462=) c.1760T= c.1002T= (p.Asp334=) c.1383T= (p.Asp461=) c.1125T= (p.Asp375=) c.227T= n.1656T= n.1623T= | |
19 | g.11113683A>C | CA404086482 | LDLR | c.1765A>C (p.Thr589Pro) c.1507A>C (p.Thr503Pro) c.1387A>C (p.Thr463Pro) c.1761A>C c.1003A>C (p.Thr335Pro) c.1384A>C (p.Thr462Pro) c.1126A>C (p.Thr376Pro) c.228A>C n.1657A>C n.1624A>C | |
19 | g.11113683A>G | CA404086480 | LDLR | c.1765A>G (p.Thr589Ala) c.1507A>G (p.Thr503Ala) c.1387A>G (p.Thr463Ala) c.1761A>G c.1003A>G (p.Thr335Ala) c.1384A>G (p.Thr462Ala) c.1126A>G (p.Thr376Ala) c.228A>G n.1657A>G n.1624A>G | |
19 | g.11113683A>T | CA404086481 | LDLR | c.1765A>T (p.Thr589Ser) c.1507A>T (p.Thr503Ser) c.1387A>T (p.Thr463Ser) c.1761A>T c.1003A>T (p.Thr335Ser) c.1384A>T (p.Thr462Ser) c.1126A>T (p.Thr376Ser) c.228A>T n.1657A>T n.1624A>T | |
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.11113684C>A | CA305300130 | LDLR | c.1766C>A (p.Thr589Asn) c.1508C>A (p.Thr503Asn) c.1388C>A (p.Thr463Asn) c.1762C>A c.1004C>A (p.Thr335Asn) c.1385C>A (p.Thr462Asn) c.1127C>A (p.Thr376Asn) c.229C>A n.1658C>A n.1625C>A | dbSNP gnomAD v2 gnomAD v4 |
19 | g.11113684C= | CA2322772001 | LDLR | c.1766C= (p.Thr589=) c.1508C= (p.Thr503=) c.1388C= (p.Thr463=) c.1762C= c.1004C= (p.Thr335=) c.1385C= (p.Thr462=) c.1127C= (p.Thr376=) c.229C= n.1658C= n.1625C= | |
19 | g.11113684C>G | CA404086484 | LDLR | c.1766C>G (p.Thr589Ser) c.1508C>G (p.Thr503Ser) c.1388C>G (p.Thr463Ser) c.1762C>G c.1004C>G (p.Thr335Ser) c.1385C>G (p.Thr462Ser) c.1127C>G (p.Thr376Ser) c.229C>G n.1658C>G n.1625C>G | |
19 | g.11113684C>T | CA404086483 | LDLR | c.1766C>T (p.Thr589Ile) c.1508C>T (p.Thr503Ile) c.1388C>T (p.Thr463Ile) c.1762C>T c.1004C>T (p.Thr335Ile) c.1385C>T (p.Thr462Ile) c.1127C>T (p.Thr376Ile) c.229C>T n.1658C>T n.1625C>T | |
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.11113685C>A | CA034597 | LDLR | c.1767C>A (p.Thr589=) c.1509C>A (p.Thr503=) c.1389C>A (p.Thr463=) c.1763C>A c.1005C>A (p.Thr335=) c.1386C>A (p.Thr462=) c.1128C>A (p.Thr376=) c.230C>A n.1659C>A n.1626C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.11113685C= | CA2322772002 | LDLR | c.1767C= (p.Thr589=) c.1509C= (p.Thr503=) c.1389C= (p.Thr463=) c.1763C= c.1005C= (p.Thr335=) c.1386C= (p.Thr462=) c.1128C= (p.Thr376=) c.230C= n.1659C= n.1626C= | |
19 | g.11113685C>G | CA505743288 | LDLR | c.1767C>G (p.Thr589=) c.1509C>G (p.Thr503=) c.1389C>G (p.Thr463=) c.1763C>G c.1005C>G (p.Thr335=) c.1386C>G (p.Thr462=) c.1128C>G (p.Thr376=) c.230C>G n.1659C>G n.1626C>G | |
19 | g.11113685C>T | CA505743287 | LDLR | c.1767C>T (p.Thr589=) c.1509C>T (p.Thr503=) c.1389C>T (p.Thr463=) c.1763C>T c.1005C>T (p.Thr335=) c.1386C>T (p.Thr462=) c.1128C>T (p.Thr376=) c.230C>T n.1659C>T n.1626C>T | |
19 | g.11113686A= | CA2322772003 | LDLR | c.1768A= (p.Lys590=) c.1510A= (p.Lys504=) c.1390A= (p.Lys464=) c.1764A= c.1006A= (p.Lys336=) c.1387A= (p.Lys463=) c.1129A= (p.Lys377=) c.231A= n.1660A= n.1627A= | |
19 | g.11113686A>C | CA404086485 | LDLR | c.1768A>C (p.Lys590Gln) c.1510A>C (p.Lys504Gln) c.1390A>C (p.Lys464Gln) c.1764A>C c.1006A>C (p.Lys336Gln) c.1387A>C (p.Lys463Gln) c.1129A>C (p.Lys377Gln) c.231A>C n.1660A>C n.1627A>C | |
19 | g.11113686A>G | CA023518 | LDLR | c.1768A>G (p.Lys590Glu) c.1510A>G (p.Lys504Glu) c.1390A>G (p.Lys464Glu) c.1764A>G c.1006A>G (p.Lys336Glu) c.1387A>G (p.Lys463Glu) c.1129A>G (p.Lys377Glu) c.231A>G n.1660A>G n.1627A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11113686A>T | CA10585486 | LDLR | c.1768A>T (p.Lys590Ter) c.1510A>T (p.Lys504Ter) c.1390A>T (p.Lys464Ter) c.1764A>T c.1006A>T (p.Lys336Ter) c.1387A>T (p.Lys463Ter) c.1129A>T (p.Lys377Ter) c.231A>T n.1660A>T n.1627A>T | ClinVar dbSNP |
19 | g.11113687A>C | CA404086486 | LDLR | c.1769A>C (p.Lys590Thr) c.1511A>C (p.Lys504Thr) c.1391A>C (p.Lys464Thr) c.1765A>C c.1007A>C (p.Lys336Thr) c.1388A>C (p.Lys463Thr) c.1130A>C (p.Lys377Thr) c.232A>C n.1661A>C n.1628A>C | |
19 | g.11113687A>G | CA404086487 | LDLR | c.1769A>G (p.Lys590Arg) c.1511A>G (p.Lys504Arg) c.1391A>G (p.Lys464Arg) c.1765A>G c.1007A>G (p.Lys336Arg) c.1388A>G (p.Lys463Arg) c.1130A>G (p.Lys377Arg) c.232A>G n.1661A>G n.1628A>G | COSMIC |
19 | g.11113687A>T | CA404086488 | LDLR | c.1769A>T (p.Lys590Met) c.1511A>T (p.Lys504Met) c.1391A>T (p.Lys464Met) c.1765A>T c.1007A>T (p.Lys336Met) c.1388A>T (p.Lys463Met) c.1130A>T (p.Lys377Met) c.232A>T n.1661A>T n.1628A>T | |
19 | g.11113688G>A | CA505743289 | LDLR | c.1770G>A (p.Lys590=) c.1512G>A (p.Lys504=) c.1392G>A (p.Lys464=) c.1766G>A c.1008G>A (p.Lys336=) c.1389G>A (p.Lys463=) c.1131G>A (p.Lys377=) c.233G>A n.1662G>A n.1629G>A | |
19 | g.11113688G>C | CA404086489 | LDLR | c.1770G>C (p.Lys590Asn) c.1512G>C (p.Lys504Asn) c.1392G>C (p.Lys464Asn) c.1766G>C c.1008G>C (p.Lys336Asn) c.1389G>C (p.Lys463Asn) c.1131G>C (p.Lys377Asn) c.233G>C n.1662G>C n.1629G>C | |
19 | g.11113688G= | CA2322772004 | LDLR | c.1770G= (p.Lys590=) c.1512G= (p.Lys504=) c.1392G= (p.Lys464=) c.1766G= c.1008G= (p.Lys336=) c.1389G= (p.Lys463=) c.1131G= (p.Lys377=) c.233G= n.1662G= n.1629G= | |
19 | g.11113688G>T | CA404086490 | LDLR | c.1770G>T (p.Lys590Asn) c.1512G>T (p.Lys504Asn) c.1392G>T (p.Lys464Asn) c.1766G>T c.1008G>T (p.Lys336Asn) c.1389G>T (p.Lys463Asn) c.1131G>T (p.Lys377Asn) c.233G>T n.1662G>T n.1629G>T | dbSNP gnomAD v3 gnomAD v4 |
19 | g.11113689G>A | CA404086491 | LDLR | c.1771G>A (p.Gly591Ser) c.1513G>A (p.Gly505Ser) c.1393G>A (p.Gly465Ser) c.1767G>A c.1009G>A (p.Gly337Ser) c.1390G>A (p.Gly464Ser) c.1132G>A (p.Gly378Ser) c.234G>A n.1663G>A n.1630G>A | |
19 | g.11113689G>C | CA404086492 | LDLR | c.1771G>C (p.Gly591Arg) c.1513G>C (p.Gly505Arg) c.1393G>C (p.Gly465Arg) c.1767G>C c.1009G>C (p.Gly337Arg) c.1390G>C (p.Gly464Arg) c.1132G>C (p.Gly378Arg) c.234G>C n.1663G>C n.1630G>C | |
19 | g.11113689G>T | CA404086493 | LDLR | c.1771G>T (p.Gly591Cys) c.1513G>T (p.Gly505Cys) c.1393G>T (p.Gly465Cys) c.1767G>T c.1009G>T (p.Gly337Cys) c.1390G>T (p.Gly464Cys) c.1132G>T (p.Gly378Cys) c.234G>T n.1663G>T n.1630G>T | |
19 | g.11113690G>A | CA10585487 | LDLR | c.1772G>A (p.Gly591Asp) c.1514G>A (p.Gly505Asp) c.1394G>A (p.Gly465Asp) c.1768G>A c.1010G>A (p.Gly337Asp) c.1391G>A (p.Gly464Asp) c.1133G>A (p.Gly378Asp) c.235G>A n.1664G>A n.1631G>A | ClinVar dbSNP gnomAD v4 |
19 | g.11113690G>C | CA404086495 | LDLR | c.1772G>C (p.Gly591Ala) c.1514G>C (p.Gly505Ala) c.1394G>C (p.Gly465Ala) c.1768G>C c.1010G>C (p.Gly337Ala) c.1391G>C (p.Gly464Ala) c.1133G>C (p.Gly378Ala) c.235G>C n.1664G>C n.1631G>C | ClinVar COSMIC |
19 | g.11113690G= | CA2322772005 | LDLR | c.1772G= (p.Gly591=) c.1514G= (p.Gly505=) c.1394G= (p.Gly465=) c.1768G= c.1010G= (p.Gly337=) c.1391G= (p.Gly464=) c.1133G= (p.Gly378=) c.235G= n.1664G= n.1631G= | |
19 | g.11113690G>T | CA404086494 | LDLR | c.1772G>T (p.Gly591Val) c.1514G>T (p.Gly505Val) c.1394G>T (p.Gly465Val) c.1768G>T c.1010G>T (p.Gly337Val) c.1391G>T (p.Gly464Val) c.1133G>T (p.Gly378Val) c.235G>T n.1664G>T n.1631G>T | |
19 | g.11113691C>A | CA505743290 | LDLR | c.1773C>A (p.Gly591=) c.1515C>A (p.Gly505=) c.1395C>A (p.Gly465=) c.1769C>A c.1011C>A (p.Gly337=) c.1392C>A (p.Gly464=) c.1134C>A (p.Gly378=) c.236C>A n.1665C>A n.1632C>A | dbSNP |
19 | g.11113691C= | CA2322772006 | LDLR | c.1773C= (p.Gly591=) c.1515C= (p.Gly505=) c.1395C= (p.Gly465=) c.1769C= c.1011C= (p.Gly337=) c.1392C= (p.Gly464=) c.1134C= (p.Gly378=) c.236C= n.1665C= n.1632C= | |
19 | g.11113691C>G | CA505743291 | LDLR | c.1773C>G (p.Gly591=) c.1515C>G (p.Gly505=) c.1395C>G (p.Gly465=) c.1769C>G c.1011C>G (p.Gly337=) c.1392C>G (p.Gly464=) c.1134C>G (p.Gly378=) c.236C>G n.1665C>G n.1632C>G | |
19 | g.11113691C>T | CA034626 | LDLR | c.1773C>T (p.Gly591=) c.1515C>T (p.Gly505=) c.1395C>T (p.Gly465=) c.1769C>T c.1011C>T (p.Gly337=) c.1392C>T (p.Gly464=) c.1134C>T (p.Gly378=) c.236C>T n.1665C>T n.1632C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
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.11113692G>A | CA034649 | LDLR | c.1774G>A (p.Val592Met) c.1516G>A (p.Val506Met) c.1396G>A (p.Val466Met) c.1770G>A c.1012G>A (p.Val338Met) c.1393G>A (p.Val465Met) c.1135G>A (p.Val379Met) c.237G>A n.1666G>A n.1633G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.11113692G>C | CA404086496 | LDLR | c.1774G>C (p.Val592Leu) c.1516G>C (p.Val506Leu) c.1396G>C (p.Val466Leu) c.1770G>C c.1012G>C (p.Val338Leu) c.1393G>C (p.Val465Leu) c.1135G>C (p.Val379Leu) c.237G>C n.1666G>C n.1633G>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.11113692G= | CA2322772007 | LDLR | c.1774G= (p.Val592=) c.1516G= (p.Val506=) c.1396G= (p.Val466=) c.1770G= c.1012G= (p.Val338=) c.1393G= (p.Val465=) c.1135G= (p.Val379=) c.237G= n.1666G= n.1633G= | |
19 | g.11113692G>T | CA404086497 | LDLR | c.1774G>T (p.Val592Leu) c.1516G>T (p.Val506Leu) c.1396G>T (p.Val466Leu) c.1770G>T c.1012G>T (p.Val338Leu) c.1393G>T (p.Val465Leu) c.1135G>T (p.Val379Leu) c.237G>T n.1666G>T n.1633G>T | |
19 | g.11113692dup | CA2499225321 | LDLR | c.1774dup (p.Val592GlyfsTer30) c.1516dup (p.Val506GlyfsTer30) c.1396dup (p.Val466GlyfsTer30) c.1770dup c.1012dup (p.Val338GlyfsTer30) c.1393dup (p.Val465GlyfsTer30) c.1135dup (p.Val379GlyfsTer30) c.237dup n.1666dup n.1633dup | ClinVar dbSNP |
19 | g.11113693T>A | CA404086498 | LDLR | c.1775T>A (p.Val592Glu) c.1517T>A (p.Val506Glu) c.1397T>A (p.Val466Glu) c.1771T>A c.1013T>A (p.Val338Glu) c.1394T>A (p.Val465Glu) c.1136T>A (p.Val379Glu) c.238T>A n.1667T>A n.1634T>A | |
19 | g.11113693T>C | CA404086499 | LDLR | c.1775T>C (p.Val592Ala) c.1517T>C (p.Val506Ala) c.1397T>C (p.Val466Ala) c.1771T>C c.1013T>C (p.Val338Ala) c.1394T>C (p.Val465Ala) c.1136T>C (p.Val379Ala) c.238T>C n.1667T>C n.1634T>C | dbSNP gnomAD v2 gnomAD v4 COSMIC |
19 | g.11113693T>G | CA404086500 | LDLR | c.1775T>G (p.Val592Gly) c.1517T>G (p.Val506Gly) c.1397T>G (p.Val466Gly) c.1771T>G c.1013T>G (p.Val338Gly) c.1394T>G (p.Val465Gly) c.1136T>G (p.Val379Gly) c.238T>G n.1667T>G n.1634T>G | dbSNP |
19 | g.11113693T= | CA2322772008 | LDLR | c.1775T= (p.Val592=) c.1517T= (p.Val506=) c.1397T= (p.Val466=) c.1771T= c.1013T= (p.Val338=) c.1394T= (p.Val465=) c.1136T= (p.Val379=) c.238T= n.1667T= n.1634T= | |
19 | g.11113694G>A | CA505743292 | LDLR | c.1776G>A (p.Val592=) c.1518G>A (p.Val506=) c.1398G>A (p.Val466=) c.1772G>A c.1014G>A (p.Val338=) c.1395G>A (p.Val465=) c.1137G>A (p.Val379=) c.239G>A n.1668G>A n.1635G>A | ClinVar |
19 | g.11113694G>C | CA505743293 | LDLR | c.1776G>C (p.Val592=) c.1518G>C (p.Val506=) c.1398G>C (p.Val466=) c.1772G>C c.1014G>C (p.Val338=) c.1395G>C (p.Val465=) c.1137G>C (p.Val379=) c.239G>C n.1668G>C n.1635G>C | |
19 | g.11113694G>T | CA505743294 | LDLR | c.1776G>T (p.Val592=) c.1518G>T (p.Val506=) c.1398G>T (p.Val466=) c.1772G>T c.1014G>T (p.Val338=) c.1395G>T (p.Val465=) c.1137G>T (p.Val379=) c.239G>T n.1668G>T n.1635G>T | |
19 | g.11113695A= | CA2322772009 | LDLR | c.1777A= (p.Lys593=) c.1519A= (p.Lys507=) c.1399A= (p.Lys467=) c.1773A= c.1015A= (p.Lys339=) c.1396A= (p.Lys466=) c.1138A= (p.Lys380=) c.240A= n.1669A= n.1636A= | |
19 | g.11113695A>C | CA404086501 | LDLR | c.1777A>C (p.Lys593Gln) c.1519A>C (p.Lys507Gln) c.1399A>C (p.Lys467Gln) c.1773A>C c.1015A>C (p.Lys339Gln) c.1396A>C (p.Lys466Gln) c.1138A>C (p.Lys380Gln) c.240A>C n.1669A>C n.1636A>C | |
19 | g.11113695A>G | CA10585489 | LDLR | c.1777A>G (p.Lys593Glu) c.1519A>G (p.Lys507Glu) c.1399A>G (p.Lys467Glu) c.1773A>G c.1015A>G (p.Lys339Glu) c.1396A>G (p.Lys466Glu) c.1138A>G (p.Lys380Glu) c.240A>G n.1669A>G n.1636A>G | ClinVar dbSNP gnomAD v4 |
19 | g.11113695A>T | CA404086502 | LDLR | c.1777A>T (p.Lys593Ter) c.1519A>T (p.Lys507Ter) c.1399A>T (p.Lys467Ter) c.1773A>T c.1015A>T (p.Lys339Ter) c.1396A>T (p.Lys466Ter) c.1138A>T (p.Lys380Ter) c.240A>T n.1669A>T n.1636A>T | |
19 | g.11113696del | CA2695238663 | LDLR | c.1778del (p.Lys593ArgfsTer?) c.1520del (p.Lys507ArgfsTer?) c.1400del (p.Lys467ArgfsTer?) c.1774del c.1016del (p.Lys339ArgfsTer?) c.1397del (p.Lys466ArgfsTer?) c.1139del (p.Lys380ArgfsTer?) c.241del n.1670del n.1637del | |
19 | g.11113696A= | CA2322772010 | LDLR | c.1778A= (p.Lys593=) c.1520A= (p.Lys507=) c.1400A= (p.Lys467=) c.1774A= c.1016A= (p.Lys339=) c.1397A= (p.Lys466=) c.1139A= (p.Lys380=) c.241A= n.1670A= n.1637A= | |
19 | g.11113696A>C | CA10585490 | LDLR | c.1778A>C (p.Lys593Thr) c.1520A>C (p.Lys507Thr) c.1400A>C (p.Lys467Thr) c.1774A>C c.1016A>C (p.Lys339Thr) c.1397A>C (p.Lys466Thr) c.1139A>C (p.Lys380Thr) c.241A>C n.1670A>C n.1637A>C | ClinVar dbSNP gnomAD v4 |
19 | g.11113696A>G | CA404086503 | LDLR | c.1778A>G (p.Lys593Arg) c.1520A>G (p.Lys507Arg) c.1400A>G (p.Lys467Arg) c.1774A>G c.1016A>G (p.Lys339Arg) c.1397A>G (p.Lys466Arg) c.1139A>G (p.Lys380Arg) c.241A>G n.1670A>G n.1637A>G | |
19 | g.11113696A>T | CA404086504 | LDLR | c.1778A>T (p.Lys593Met) c.1520A>T (p.Lys507Met) c.1400A>T (p.Lys467Met) c.1774A>T c.1016A>T (p.Lys339Met) c.1397A>T (p.Lys466Met) c.1139A>T (p.Lys380Met) c.241A>T n.1670A>T n.1637A>T | |
19 | g.11113697G>A | CA505743295 | LDLR | c.1779G>A (p.Lys593=) c.1521G>A (p.Lys507=) c.1401G>A (p.Lys467=) c.1775G>A c.1017G>A (p.Lys339=) c.1398G>A (p.Lys466=) c.1140G>A (p.Lys380=) c.242G>A n.1671G>A n.1638G>A | |
19 | g.11113697G>C | CA404086505 | LDLR | c.1779G>C (p.Lys593Asn) c.1521G>C (p.Lys507Asn) c.1401G>C (p.Lys467Asn) c.1775G>C c.1017G>C (p.Lys339Asn) c.1398G>C (p.Lys466Asn) c.1140G>C (p.Lys380Asn) c.242G>C n.1671G>C n.1638G>C | ClinVar dbSNP |
19 | g.11113697G= | CA2322772012 | LDLR | c.1779G= (p.Lys593=) c.1521G= (p.Lys507=) c.1401G= (p.Lys467=) c.1775G= c.1017G= (p.Lys339=) c.1398G= (p.Lys466=) c.1140G= (p.Lys380=) c.242G= n.1671G= n.1638G= | |
19 | g.11113697G>T | CA404086506 | LDLR | c.1779G>T (p.Lys593Asn) c.1521G>T (p.Lys507Asn) c.1401G>T (p.Lys467Asn) c.1775G>T c.1017G>T (p.Lys339Asn) c.1398G>T (p.Lys466Asn) c.1140G>T (p.Lys380Asn) c.242G>T n.1671G>T n.1638G>T | |
19 | g.11113697_11113698delinsGA | CA2322772011 | LDLR | c.1779_1780delinsGA (p.Lys593=) c.1521_1522delinsGA (p.Lys507=) c.1401_1402delinsGA (p.Lys467=) c.1775_1776delinsGA c.1017_1018delinsGA (p.Lys339=) c.1398_1399delinsGA (p.Lys466=) c.1140_1141delinsGA (p.Lys380=) c.242_243delinsGA n.1671_1672delinsGA n.1638_1639delinsGA | |
19 | g.11113698A= | CA2322772013 | LDLR | c.1780A= (p.Arg594=) c.1522A= (p.Arg508=) c.1402A= (p.Arg468=) c.1776A= c.1018A= (p.Arg340=) c.1399A= (p.Arg467=) c.1141A= (p.Arg381=) c.243A= n.1672A= n.1639A= | |
19 | g.11113698A>C | CA505743296 | LDLR | c.1780A>C (p.Arg594=) c.1522A>C (p.Arg508=) c.1402A>C (p.Arg468=) c.1776A>C c.1018A>C (p.Arg340=) c.1399A>C (p.Arg467=) c.1141A>C (p.Arg381=) c.243A>C n.1672A>C n.1639A>C | |
19 | g.11113698A>G | CA404086507 | LDLR | c.1780A>G (p.Arg594Gly) c.1522A>G (p.Arg508Gly) c.1402A>G (p.Arg468Gly) c.1776A>G c.1018A>G (p.Arg340Gly) c.1399A>G (p.Arg467Gly) c.1141A>G (p.Arg381Gly) c.243A>G n.1672A>G n.1639A>G | |
19 | g.11113698A>T | CA404086508 | LDLR | c.1780A>T (p.Arg594Trp) c.1522A>T (p.Arg508Trp) c.1402A>T (p.Arg468Trp) c.1776A>T c.1018A>T (p.Arg340Trp) c.1399A>T (p.Arg467Trp) c.1141A>T (p.Arg381Trp) c.243A>T n.1672A>T n.1639A>T | ClinVar dbSNP |
19 | g.11113698delinsCTGAAT | CA10585491 | LDLR | c.1780delinsCTGAAT (p.Arg594LeufsTer?) c.1522delinsCTGAAT (p.Arg508LeufsTer?) c.1402delinsCTGAAT (p.Arg468LeufsTer?) c.1776delinsCTGAAT c.1018delinsCTGAAT (p.Arg340LeufsTer?) c.1399delinsCTGAAT (p.Arg467LeufsTer?) c.1141delinsCTGAAT (p.Arg381LeufsTer?) c.243delinsCTGAAT n.1672delinsCTGAAT n.1639delinsCTGAAT | ClinVar dbSNP |
19 | g.11113699G>A | CA404086509 | LDLR | c.1781G>A (p.Arg594Lys) c.1523G>A (p.Arg508Lys) c.1403G>A (p.Arg468Lys) c.1777G>A c.1019G>A (p.Arg340Lys) c.1400G>A (p.Arg467Lys) c.1142G>A (p.Arg381Lys) c.244G>A n.1673G>A n.1640G>A | dbSNP gnomAD v2 |
19 | g.11113699G>C | CA404086510 | LDLR | c.1781G>C (p.Arg594Thr) c.1523G>C (p.Arg508Thr) c.1403G>C (p.Arg468Thr) c.1777G>C c.1019G>C (p.Arg340Thr) c.1400G>C (p.Arg467Thr) c.1142G>C (p.Arg381Thr) c.244G>C n.1673G>C n.1640G>C | |
19 | g.11113699G= | CA2322772014 | LDLR | c.1781G= (p.Arg594=) c.1523G= (p.Arg508=) c.1403G= (p.Arg468=) c.1777G= c.1019G= (p.Arg340=) c.1400G= (p.Arg467=) c.1142G= (p.Arg381=) c.244G= n.1673G= n.1640G= | |
19 | g.11113699G>T | CA404086511 | LDLR | c.1781G>T (p.Arg594Met) c.1523G>T (p.Arg508Met) c.1403G>T (p.Arg468Met) c.1777G>T c.1019G>T (p.Arg340Met) c.1400G>T (p.Arg467Met) c.1142G>T (p.Arg381Met) c.244G>T n.1673G>T n.1640G>T | |
19 | g.11113700G>A | CA505743297 | LDLR | c.1782G>A (p.Arg594=) c.1524G>A (p.Arg508=) c.1404G>A (p.Arg468=) c.1778G>A c.1020G>A (p.Arg340=) c.1401G>A (p.Arg467=) c.1143G>A (p.Arg381=) c.245G>A n.1674G>A n.1641G>A | ClinVar gnomAD v4 |
19 | g.11113700G>C | CA404086512 | LDLR | c.1782G>C (p.Arg594Ser) c.1524G>C (p.Arg508Ser) c.1404G>C (p.Arg468Ser) c.1778G>C c.1020G>C (p.Arg340Ser) c.1401G>C (p.Arg467Ser) c.1143G>C (p.Arg381Ser) c.245G>C n.1674G>C n.1641G>C | |
19 | g.11113700G>T | CA404086513 | LDLR | c.1782G>T (p.Arg594Ser) c.1524G>T (p.Arg508Ser) c.1404G>T (p.Arg468Ser) c.1778G>T c.1020G>T (p.Arg340Ser) c.1401G>T (p.Arg467Ser) c.1143G>T (p.Arg381Ser) c.245G>T n.1674G>T n.1641G>T | |
19 | g.11113701A= | CA2322772015 | LDLR | c.1783A= (p.Lys595=) c.1525A= (p.Lys509=) c.1405A= (p.Lys469=) c.1779A= c.1021A= (p.Lys341=) c.1402A= (p.Lys468=) c.1144A= (p.Lys382=) c.246A= n.1675A= n.1642A= | |
19 | g.11113701A>C | CA404086514 | LDLR | c.1783A>C (p.Lys595Gln) c.1525A>C (p.Lys509Gln) c.1405A>C (p.Lys469Gln) c.1779A>C c.1021A>C (p.Lys341Gln) c.1402A>C (p.Lys468Gln) c.1144A>C (p.Lys382Gln) c.246A>C n.1675A>C n.1642A>C | dbSNP gnomAD v2 gnomAD v4 |
19 | g.11113701A>G | CA10585492 | LDLR | c.1783A>G (p.Lys595Glu) c.1525A>G (p.Lys509Glu) c.1405A>G (p.Lys469Glu) c.1779A>G c.1021A>G (p.Lys341Glu) c.1402A>G (p.Lys468Glu) c.1144A>G (p.Lys382Glu) c.246A>G n.1675A>G n.1642A>G | ClinVar dbSNP |
19 | g.11113701A>T | CA404086515 | LDLR | c.1783A>T (p.Lys595Ter) c.1525A>T (p.Lys509Ter) c.1405A>T (p.Lys469Ter) c.1779A>T c.1021A>T (p.Lys341Ter) c.1402A>T (p.Lys468Ter) c.1144A>T (p.Lys382Ter) c.246A>T n.1675A>T n.1642A>T | |
19 | g.11113704dup | CA2695228117 | LDLR | c.1786dup (p.Thr596AsnfsTer26) c.1528dup (p.Thr510AsnfsTer26) c.1408dup (p.Thr470AsnfsTer26) c.1782dup c.1024dup (p.Thr342AsnfsTer26) c.1405dup (p.Thr469AsnfsTer26) c.1147dup (p.Thr383AsnfsTer26) c.249dup n.1678dup n.1645dup | |
19 | g.11113702A>C | CA404086516 | LDLR | c.1784A>C (p.Lys595Thr) c.1526A>C (p.Lys509Thr) c.1406A>C (p.Lys469Thr) c.1780A>C c.1022A>C (p.Lys341Thr) c.1403A>C (p.Lys468Thr) c.1145A>C (p.Lys382Thr) c.247A>C n.1676A>C n.1643A>C | |
19 | g.11113702A>G | CA404086517 | LDLR | c.1784A>G (p.Lys595Arg) c.1526A>G (p.Lys509Arg) c.1406A>G (p.Lys469Arg) c.1780A>G c.1022A>G (p.Lys341Arg) c.1403A>G (p.Lys468Arg) c.1145A>G (p.Lys382Arg) c.247A>G n.1676A>G n.1643A>G | gnomAD v4 |
19 | g.11113702A>T | CA404086518 | LDLR | c.1784A>T (p.Lys595Ile) c.1526A>T (p.Lys509Ile) c.1406A>T (p.Lys469Ile) c.1780A>T c.1022A>T (p.Lys341Ile) c.1403A>T (p.Lys468Ile) c.1145A>T (p.Lys382Ile) c.247A>T n.1676A>T n.1643A>T | |
19 | g.11113703A= | CA2322772016 | LDLR | c.1785A= (p.Lys595=) c.1527A= (p.Lys509=) c.1407A= (p.Lys469=) c.1781A= c.1023A= (p.Lys341=) c.1404A= (p.Lys468=) c.1146A= (p.Lys382=) c.248A= n.1677A= n.1644A= | |
19 | g.11113703A>C | CA404086519 | LDLR | c.1785A>C (p.Lys595Asn) c.1527A>C (p.Lys509Asn) c.1407A>C (p.Lys469Asn) c.1781A>C c.1023A>C (p.Lys341Asn) c.1404A>C (p.Lys468Asn) c.1146A>C (p.Lys382Asn) c.248A>C n.1677A>C n.1644A>C | |
19 | g.11113703A>G | CA505743298 | LDLR | c.1785A>G (p.Lys595=) c.1527A>G (p.Lys509=) c.1407A>G (p.Lys469=) c.1781A>G c.1023A>G (p.Lys341=) c.1404A>G (p.Lys468=) c.1146A>G (p.Lys382=) c.248A>G n.1677A>G n.1644A>G | ClinVar dbSNP gnomAD v4 |
19 | g.11113703A>T | CA404086520 | LDLR | c.1785A>T (p.Lys595Asn) c.1527A>T (p.Lys509Asn) c.1407A>T (p.Lys469Asn) c.1781A>T c.1023A>T (p.Lys341Asn) c.1404A>T (p.Lys468Asn) c.1146A>T (p.Lys382Asn) c.248A>T n.1677A>T n.1644A>T | dbSNP |