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.11113554_11113570delinsCACGGCGTCTCTTCCTA | CA2322771891 | LDLR | c.1636_1652delinsCACGGCGTCTCTTCCTA (p.His546=) c.1378_1394delinsCACGGCGTCTCTTCCTA (p.His460=) c.1258_1274delinsCACGGCGTCTCTTCCTA (p.His420=) c.1632_1648delinsCACGGCGTCTCTTCCTA c.874_890delinsCACGGCGTCTCTTCCTA (p.His292=) c.1255_1271delinsCACGGCGTCTCTTCCTA (p.His419=) c.997_1013delinsCACGGCGTCTCTTCCTA (p.His333=) c.99_115delinsCACGGCGTCTCTTCCTA c.858_874delinsCACGGCGTCTCTTCCTA n.1528_1544delinsCACGGCGTCTCTTCCTA n.1495_1511delinsCACGGCGTCTCTTCCTA | |
19 | g.11113554_11113572delinsCACGGCGTCTCTTCCTATG | CA2322771889 | LDLR | c.1636_1654delinsCACGGCGTCTCTTCCTATG (p.His546=) c.1378_1396delinsCACGGCGTCTCTTCCTATG (p.His460=) c.1258_1276delinsCACGGCGTCTCTTCCTATG (p.His420=) c.1632_1650delinsCACGGCGTCTCTTCCTATG c.874_892delinsCACGGCGTCTCTTCCTATG (p.His292=) c.1255_1273delinsCACGGCGTCTCTTCCTATG (p.His419=) c.997_1015delinsCACGGCGTCTCTTCCTATG (p.His333=) c.99_117delinsCACGGCGTCTCTTCCTATG c.858_876delinsCACGGCGTCTCTTCCTATG n.1528_1546delinsCACGGCGTCTCTTCCTATG n.1495_1513delinsCACGGCGTCTCTTCCTATG | |
19 | g.11113554_11113578delinsCACGGCGTCTCTTCCTATGACACCG | CA2322771890 | LDLR | c.1636_1660delinsCACGGCGTCTCTTCCTATGACACCG (p.His546=) c.1378_1402delinsCACGGCGTCTCTTCCTATGACACCG (p.His460=) c.1258_1282delinsCACGGCGTCTCTTCCTATGACACCG (p.His420=) c.1632_1656delinsCACGGCGTCTCTTCCTATGACACCG c.874_898delinsCACGGCGTCTCTTCCTATGACACCG (p.His292=) c.1255_1279delinsCACGGCGTCTCTTCCTATGACACCG (p.His419=) c.997_1021delinsCACGGCGTCTCTTCCTATGACACCG (p.His333=) c.99_123delinsCACGGCGTCTCTTCCTATGACACCG c.858_882delinsCACGGCGTCTCTTCCTATGACACCG n.1528_1552delinsCACGGCGTCTCTTCCTATGACACCG n.1495_1519delinsCACGGCGTCTCTTCCTATGACACCG | |
19 | g.11113555_11113570delinsCAGCT | CA645509278 | LDLR | c.1637_1652delinsCAGCT (p.His546ProfsTer3) c.1379_1394delinsCAGCT (p.His460ProfsTer3) c.1259_1274delinsCAGCT (p.His420ProfsTer3) c.1633_1648delinsCAGCT c.875_890delinsCAGCT (p.His292ProfsTer3) c.1256_1271delinsCAGCT (p.His419ProfsTer3) c.998_1013delinsCAGCT (p.His333ProfsTer3) c.100_115delinsCAGCT c.859_874delinsCAGCT n.1529_1544delinsCAGCT n.1496_1511delinsCAGCT | ClinVar dbSNP |
19 | g.11113555_11113572delinsCAGCTTA | CA10585434 | LDLR | c.1637_1654delinsCAGCTTA (p.His546ProfsTer3) c.1379_1396delinsCAGCTTA (p.His460ProfsTer3) c.1259_1276delinsCAGCTTA (p.His420ProfsTer3) c.1633_1650delinsCAGCTTA c.875_892delinsCAGCTTA (p.His292ProfsTer3) c.1256_1273delinsCAGCTTA (p.His419ProfsTer3) c.998_1015delinsCAGCTTA (p.His333ProfsTer3) c.100_117delinsCAGCTTA c.859_876delinsCAGCTTA n.1529_1546delinsCAGCTTA n.1496_1513delinsCAGCTTA | ClinVar dbSNP |
19 | g.11113555_11113578delinsCAGCTTGACCCGC | CA10585435 | LDLR | c.1637_1660delinsCAGCTTGACCCGC (p.His546ProfsTer3) c.1379_1402delinsCAGCTTGACCCGC (p.His460ProfsTer3) c.1259_1282delinsCAGCTTGACCCGC (p.His420ProfsTer3) c.1633_1656delinsCAGCTTGACCCGC c.875_898delinsCAGCTTGACCCGC (p.His292ProfsTer3) c.1256_1279delinsCAGCTTGACCCGC (p.His419ProfsTer3) c.998_1021delinsCAGCTTGACCCGC (p.His333ProfsTer3) c.100_123delinsCAGCTTGACCCGC c.859_882delinsCAGCTTGACCCGC n.1529_1552delinsCAGCTTGACCCGC n.1496_1519delinsCAGCTTGACCCGC | ClinVar dbSNP |
19 | g.11113570A= | CA2322771901 | LDLR | c.1652A= (p.Tyr551=) c.1394A= (p.Tyr465=) c.1274A= (p.Tyr425=) c.1648A= c.890A= (p.Tyr297=) c.1271A= (p.Tyr424=) c.1013A= (p.Tyr338=) c.115A= c.874A= n.1544A= n.1511A= | |
19 | g.11113570A>C | CA404085737 | LDLR | c.1652A>C (p.Tyr551Ser) c.1394A>C (p.Tyr465Ser) c.1274A>C (p.Tyr425Ser) c.1648A>C c.890A>C (p.Tyr297Ser) c.1271A>C (p.Tyr424Ser) c.1013A>C (p.Tyr338Ser) c.115A>C c.874A>C n.1544A>C n.1511A>C | |
19 | g.11113570A>G | CA10585437 | LDLR | c.1652A>G (p.Tyr551Cys) c.1394A>G (p.Tyr465Cys) c.1274A>G (p.Tyr425Cys) c.1648A>G c.890A>G (p.Tyr297Cys) c.1271A>G (p.Tyr424Cys) c.1013A>G (p.Tyr338Cys) c.115A>G c.874A>G n.1544A>G n.1511A>G | ClinVar dbSNP |
19 | g.11113570A>T | CA404085739 | LDLR | c.1652A>T (p.Tyr551Phe) c.1394A>T (p.Tyr465Phe) c.1274A>T (p.Tyr425Phe) c.1648A>T c.890A>T (p.Tyr297Phe) c.1271A>T (p.Tyr424Phe) c.1013A>T (p.Tyr338Phe) c.115A>T c.874A>T n.1544A>T n.1511A>T | |
19 | g.11113571T>A | CA404085742 | LDLR | c.1653T>A (p.Tyr551Ter) c.1395T>A (p.Tyr465Ter) c.1275T>A (p.Tyr425Ter) c.1649T>A c.891T>A (p.Tyr297Ter) c.1272T>A (p.Tyr424Ter) c.1014T>A (p.Tyr338Ter) c.116T>A c.875T>A n.1545T>A n.1512T>A | |
19 | g.11113571T>C | CA505743062 | LDLR | c.1653T>C (p.Tyr551=) c.1395T>C (p.Tyr465=) c.1275T>C (p.Tyr425=) c.1649T>C c.891T>C (p.Tyr297=) c.1272T>C (p.Tyr424=) c.1014T>C (p.Tyr338=) c.116T>C c.875T>C n.1545T>C n.1512T>C | dbSNP COSMIC |
19 | g.11113571T>G | CA404085745 | LDLR | c.1653T>G (p.Tyr551Ter) c.1395T>G (p.Tyr465Ter) c.1275T>G (p.Tyr425Ter) c.1649T>G c.891T>G (p.Tyr297Ter) c.1272T>G (p.Tyr424Ter) c.1014T>G (p.Tyr338Ter) c.116T>G c.875T>G n.1545T>G n.1512T>G | |
19 | g.11113572G>A | CA404085748 | LDLR | c.1654G>A (p.Asp552Asn) c.1396G>A (p.Asp466Asn) c.1276G>A (p.Asp426Asn) c.1650G>A c.892G>A (p.Asp298Asn) c.1273G>A (p.Asp425Asn) c.1015G>A (p.Asp339Asn) c.117G>A c.876G>A n.1546G>A n.1513G>A | |
19 | g.11113572G>C | CA404085749 | LDLR | c.1654G>C (p.Asp552His) c.1396G>C (p.Asp466His) c.1276G>C (p.Asp426His) c.1650G>C c.892G>C (p.Asp298His) c.1273G>C (p.Asp425His) c.1015G>C (p.Asp339His) c.117G>C c.876G>C n.1546G>C n.1513G>C | |
19 | g.11113572G>T | CA404085751 | LDLR | c.1654G>T (p.Asp552Tyr) c.1396G>T (p.Asp466Tyr) c.1276G>T (p.Asp426Tyr) c.1650G>T c.892G>T (p.Asp298Tyr) c.1273G>T (p.Asp425Tyr) c.1015G>T (p.Asp339Tyr) c.117G>T c.876G>T n.1546G>T n.1513G>T | gnomAD v4 |
19 | g.11113573A>C | CA404085754 | LDLR | c.1655A>C (p.Asp552Ala) c.1397A>C (p.Asp466Ala) c.1277A>C (p.Asp426Ala) c.1651A>C c.893A>C (p.Asp298Ala) c.1274A>C (p.Asp425Ala) c.1016A>C (p.Asp339Ala) c.118A>C c.877A>C n.1547A>C n.1514A>C | |
19 | g.11113573A>G | CA404085757 | LDLR | c.1655A>G (p.Asp552Gly) c.1397A>G (p.Asp466Gly) c.1277A>G (p.Asp426Gly) c.1651A>G c.893A>G (p.Asp298Gly) c.1274A>G (p.Asp425Gly) c.1016A>G (p.Asp339Gly) c.118A>G c.877A>G n.1547A>G n.1514A>G | |
19 | g.11113573A>T | CA404085760 | LDLR | c.1655A>T (p.Asp552Val) c.1397A>T (p.Asp466Val) c.1277A>T (p.Asp426Val) c.1651A>T c.893A>T (p.Asp298Val) c.1274A>T (p.Asp425Val) c.1016A>T (p.Asp339Val) c.118A>T c.877A>T n.1547A>T n.1514A>T | |
19 | g.11113575_11113576del | CA2573050599 | LDLR | c.1657_1658del (p.Thr553ArgfsTer?) c.1399_1400del (p.Thr467ArgfsTer?) c.1279_1280del (p.Thr427ArgfsTer?) c.1653_1654del c.895_896del (p.Thr299ArgfsTer?) c.1276_1277del (p.Thr426ArgfsTer?) c.1018_1019del (p.Thr340ArgfsTer?) c.120_121del c.879_880del n.1549_1550del n.1516_1517del | |
19 | g.11113574C>A | CA404085764 | LDLR | c.1656C>A (p.Asp552Glu) c.1398C>A (p.Asp466Glu) c.1278C>A (p.Asp426Glu) c.1652C>A c.894C>A (p.Asp298Glu) c.1275C>A (p.Asp425Glu) c.1017C>A (p.Asp339Glu) c.119C>A c.878C>A n.1548C>A n.1515C>A | |
19 | g.11113574C= | CA2322771902 | LDLR | c.1656C= (p.Asp552=) c.1398C= (p.Asp466=) c.1278C= (p.Asp426=) c.1652C= c.894C= (p.Asp298=) c.1275C= (p.Asp425=) c.1017C= (p.Asp339=) c.119C= c.878C= n.1548C= n.1515C= | |
19 | g.11113574C>G | CA404085768 | LDLR | c.1656C>G (p.Asp552Glu) c.1398C>G (p.Asp466Glu) c.1278C>G (p.Asp426Glu) c.1652C>G c.894C>G (p.Asp298Glu) c.1275C>G (p.Asp425Glu) c.1017C>G (p.Asp339Glu) c.119C>G c.878C>G n.1548C>G n.1515C>G | |
19 | g.11113574C>T | CA305300098 | LDLR | c.1656C>T (p.Asp552=) c.1398C>T (p.Asp466=) c.1278C>T (p.Asp426=) c.1652C>T c.894C>T (p.Asp298=) c.1275C>T (p.Asp425=) c.1017C>T (p.Asp339=) c.119C>T c.878C>T n.1548C>T n.1515C>T | ClinVar dbSNP |
19 | g.11113575A= | CA2322771903 | LDLR | c.1657A= (p.Thr553=) c.1399A= (p.Thr467=) c.1279A= (p.Thr427=) c.1653A= c.895A= (p.Thr299=) c.1276A= (p.Thr426=) c.1018A= (p.Thr340=) c.120A= c.879A= n.1549A= n.1516A= | |
19 | g.11113575A>C | CA404085773 | LDLR | c.1657A>C (p.Thr553Pro) c.1399A>C (p.Thr467Pro) c.1279A>C (p.Thr427Pro) c.1653A>C c.895A>C (p.Thr299Pro) c.1276A>C (p.Thr426Pro) c.1018A>C (p.Thr340Pro) c.120A>C c.879A>C n.1549A>C n.1516A>C | |
19 | g.11113575A>G | CA404085774 | LDLR | c.1657A>G (p.Thr553Ala) c.1399A>G (p.Thr467Ala) c.1279A>G (p.Thr427Ala) c.1653A>G c.895A>G (p.Thr299Ala) c.1276A>G (p.Thr426Ala) c.1018A>G (p.Thr340Ala) c.120A>G c.879A>G n.1549A>G n.1516A>G | |
19 | g.11113575A>T | CA034140 | LDLR | c.1657A>T (p.Thr553Ser) c.1399A>T (p.Thr467Ser) c.1279A>T (p.Thr427Ser) c.1653A>T c.895A>T (p.Thr299Ser) c.1276A>T (p.Thr426Ser) c.1018A>T (p.Thr340Ser) c.120A>T c.879A>T n.1549A>T n.1516A>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.11113575_11113576delinsTA | CA2580096438 | LDLR | c.1657_1658delinsTA (p.Thr553Tyr) c.1399_1400delinsTA (p.Thr467Tyr) c.1279_1280delinsTA (p.Thr427Tyr) c.1653_1654delinsTA c.895_896delinsTA (p.Thr299Tyr) c.1276_1277delinsTA (p.Thr426Tyr) c.1018_1019delinsTA (p.Thr340Tyr) c.120_121delinsTA c.879_880delinsTA n.1549_1550delinsTA n.1516_1517delinsTA | ClinVar |
19 | g.11113576C>A | CA034172 | LDLR | c.1658C>A (p.Thr553Asn) c.1400C>A (p.Thr467Asn) c.1280C>A (p.Thr427Asn) c.1654C>A c.896C>A (p.Thr299Asn) c.1277C>A (p.Thr426Asn) c.1019C>A (p.Thr340Asn) c.121C>A c.880C>A n.1550C>A n.1517C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.11113576C= | CA2322771904 | LDLR | c.1658C= (p.Thr553=) c.1400C= (p.Thr467=) c.1280C= (p.Thr427=) c.1654C= c.896C= (p.Thr299=) c.1277C= (p.Thr426=) c.1019C= (p.Thr340=) c.121C= c.880C= n.1550C= n.1517C= | |
19 | g.11113576C>G | CA404085779 | LDLR | c.1658C>G (p.Thr553Ser) c.1400C>G (p.Thr467Ser) c.1280C>G (p.Thr427Ser) c.1654C>G c.896C>G (p.Thr299Ser) c.1277C>G (p.Thr426Ser) c.1019C>G (p.Thr340Ser) c.121C>G c.880C>G n.1550C>G n.1517C>G | |
19 | g.11113576C>T | CA10585438 | LDLR | c.1658C>T (p.Thr553Ile) c.1400C>T (p.Thr467Ile) c.1280C>T (p.Thr427Ile) c.1654C>T c.896C>T (p.Thr299Ile) c.1277C>T (p.Thr426Ile) c.1019C>T (p.Thr340Ile) c.121C>T c.880C>T n.1550C>T n.1517C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.11113577C>A | CA505743066 | LDLR | c.1659C>A (p.Thr553=) c.1401C>A (p.Thr467=) c.1281C>A (p.Thr427=) c.1655C>A c.897C>A (p.Thr299=) c.1278C>A (p.Thr426=) c.1020C>A (p.Thr340=) c.122C>A c.881C>A n.1551C>A n.1518C>A | |
19 | g.11113577C= | CA2322771905 | LDLR | c.1659C= (p.Thr553=) c.1401C= (p.Thr467=) c.1281C= (p.Thr427=) c.1655C= c.897C= (p.Thr299=) c.1278C= (p.Thr426=) c.1020C= (p.Thr340=) c.122C= c.881C= n.1551C= n.1518C= | |
19 | g.11113577C>G | CA505743065 | LDLR | c.1659C>G (p.Thr553=) c.1401C>G (p.Thr467=) c.1281C>G (p.Thr427=) c.1655C>G c.897C>G (p.Thr299=) c.1278C>G (p.Thr426=) c.1020C>G (p.Thr340=) c.122C>G c.881C>G n.1551C>G n.1518C>G | |
19 | g.11113577C>T | CA034196 | LDLR | c.1659C>T (p.Thr553=) c.1401C>T (p.Thr467=) c.1281C>T (p.Thr427=) c.1655C>T c.897C>T (p.Thr299=) c.1278C>T (p.Thr426=) c.1020C>T (p.Thr340=) c.122C>T c.881C>T n.1551C>T n.1518C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.11113577_11113580delinsGGCGTCTCTTCCT | CA2695238673 | LDLR | c.1659_1662delinsGGCGTCTCTTCCT (p.Val554delinsAlaSerLeuPro) c.1401_1404delinsGGCGTCTCTTCCT (p.Val468delinsAlaSerLeuPro) c.1281_1284delinsGGCGTCTCTTCCT (p.Val428delinsAlaSerLeuPro) c.1655_1658delinsGGCGTCTCTTCCT c.897_900delinsGGCGTCTCTTCCT (p.Val300delinsAlaSerLeuPro) c.1278_1281delinsGGCGTCTCTTCCT (p.Val427delinsAlaSerLeuPro) c.1020_1023delinsGGCGTCTCTTCCT (p.Val341delinsAlaSerLeuPro) c.122_125delinsGGCGTCTCTTCCT c.881_884delinsGGCGTCTCTTCCT n.1551_1554delinsGGCGTCTCTTCCT n.1518_1521delinsGGCGTCTCTTCCT | |
19 | g.11113578_11113583del | CA2697556257 | LDLR | c.1660_1665del (p.Val554_Ile555del) c.1402_1407del (p.Val468_Ile469del) c.1282_1287del (p.Val428_Ile429del) c.1656_1661del c.898_903del (p.Val300_Ile301del) c.1279_1284del (p.Val427_Ile428del) c.1021_1026del (p.Val341_Ile342del) c.123_128del c.882_887del n.1552_1557del n.1519_1524del | ClinVar |
19 | g.11113578G>A | CA023485 | LDLR | c.1660G>A (p.Val554Ile) c.1402G>A (p.Val468Ile) c.1282G>A (p.Val428Ile) c.1656G>A c.898G>A (p.Val300Ile) c.1279G>A (p.Val427Ile) c.1021G>A (p.Val341Ile) c.123G>A c.882G>A n.1552G>A n.1519G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11113578G>C | CA404085789 | LDLR | c.1660G>C (p.Val554Leu) c.1402G>C (p.Val468Leu) c.1282G>C (p.Val428Leu) c.1656G>C c.898G>C (p.Val300Leu) c.1279G>C (p.Val427Leu) c.1021G>C (p.Val341Leu) c.123G>C c.882G>C n.1552G>C n.1519G>C | |
19 | g.11113578G= | CA2322771906 | LDLR | c.1660G= (p.Val554=) c.1402G= (p.Val468=) c.1282G= (p.Val428=) c.1656G= c.898G= (p.Val300=) c.1279G= (p.Val427=) c.1021G= (p.Val341=) c.123G= c.882G= n.1552G= n.1519G= | |
19 | g.11113578G>T | CA404085794 | LDLR | c.1660G>T (p.Val554Phe) c.1402G>T (p.Val468Phe) c.1282G>T (p.Val428Phe) c.1656G>T c.898G>T (p.Val300Phe) c.1279G>T (p.Val427Phe) c.1021G>T (p.Val341Phe) c.123G>T c.882G>T n.1552G>T n.1519G>T | |
19 | g.11113579T>A | CA10585439 | LDLR | c.1661T>A (p.Val554Asp) c.1403T>A (p.Val468Asp) c.1283T>A (p.Val428Asp) c.1657T>A c.899T>A (p.Val300Asp) c.1280T>A (p.Val427Asp) c.1022T>A (p.Val341Asp) c.124T>A c.883T>A n.1553T>A n.1520T>A | ClinVar dbSNP |
19 | g.11113579T>C | CA404085798 | LDLR | c.1661T>C (p.Val554Ala) c.1403T>C (p.Val468Ala) c.1283T>C (p.Val428Ala) c.1657T>C c.899T>C (p.Val300Ala) c.1280T>C (p.Val427Ala) c.1022T>C (p.Val341Ala) c.124T>C c.883T>C n.1553T>C n.1520T>C | |
19 | g.11113579T>G | CA404085801 | LDLR | c.1661T>G (p.Val554Gly) c.1403T>G (p.Val468Gly) c.1283T>G (p.Val428Gly) c.1657T>G c.899T>G (p.Val300Gly) c.1280T>G (p.Val427Gly) c.1022T>G (p.Val341Gly) c.124T>G c.883T>G n.1553T>G n.1520T>G | |
19 | g.11113579T= | CA2322771907 | LDLR | c.1661T= (p.Val554=) c.1403T= (p.Val468=) c.1283T= (p.Val428=) c.1657T= c.899T= (p.Val300=) c.1280T= (p.Val427=) c.1022T= (p.Val341=) c.124T= c.883T= n.1553T= n.1520T= | |
19 | g.11113580C>A | CA505743068 | LDLR | c.1662C>A (p.Val554=) c.1404C>A (p.Val468=) c.1284C>A (p.Val428=) c.1658C>A c.900C>A (p.Val300=) c.1281C>A (p.Val427=) c.1023C>A (p.Val341=) c.125C>A c.884C>A n.1554C>A n.1521C>A | |
19 | g.11113580C= | CA2322771908 | LDLR | c.1662C= (p.Val554=) c.1404C= (p.Val468=) c.1284C= (p.Val428=) c.1658C= c.900C= (p.Val300=) c.1281C= (p.Val427=) c.1023C= (p.Val341=) c.125C= c.884C= n.1554C= n.1521C= | |
19 | g.11113580C>G | CA505743069 | LDLR | c.1662C>G (p.Val554=) c.1404C>G (p.Val468=) c.1284C>G (p.Val428=) c.1658C>G c.900C>G (p.Val300=) c.1281C>G (p.Val427=) c.1023C>G (p.Val341=) c.125C>G c.884C>G n.1554C>G n.1521C>G | |
19 | g.11113580C>T | CA505743070 | LDLR | c.1662C>T (p.Val554=) c.1404C>T (p.Val468=) c.1284C>T (p.Val428=) c.1658C>T c.900C>T (p.Val300=) c.1281C>T (p.Val427=) c.1023C>T (p.Val341=) c.125C>T c.884C>T n.1554C>T n.1521C>T | dbSNP |
19 | g.11113580_11113581del | CA2830773968 | LDLR | c.1662_1663del (p.Ile555GlnfsTer?) c.1404_1405del (p.Ile469GlnfsTer?) c.1284_1285del (p.Ile429GlnfsTer?) c.1658_1659del c.900_901del (p.Ile301GlnfsTer?) c.1281_1282del (p.Ile428GlnfsTer?) c.1023_1024del (p.Ile342GlnfsTer?) c.125_126del c.884_885del n.1554_1555del n.1521_1522del | |
19 | g.11113581A= | CA2322771909 | LDLR | c.1663A= (p.Ile555=) c.1405A= (p.Ile469=) c.1285A= (p.Ile429=) c.1659A= c.901A= (p.Ile301=) c.1282A= (p.Ile428=) c.1024A= (p.Ile342=) c.126A= c.885A= n.1555A= n.1522A= | |
19 | g.11113581A>C | CA404085804 | LDLR | c.1663A>C (p.Ile555Leu) c.1405A>C (p.Ile469Leu) c.1285A>C (p.Ile429Leu) c.1659A>C c.901A>C (p.Ile301Leu) c.1282A>C (p.Ile428Leu) c.1024A>C (p.Ile342Leu) c.126A>C c.885A>C n.1555A>C n.1522A>C | |
19 | g.11113581A>G | CA404085805 | LDLR | c.1663A>G (p.Ile555Val) c.1405A>G (p.Ile469Val) c.1285A>G (p.Ile429Val) c.1659A>G c.901A>G (p.Ile301Val) c.1282A>G (p.Ile428Val) c.1024A>G (p.Ile342Val) c.126A>G c.885A>G n.1555A>G n.1522A>G | |
19 | g.11113581A>T | CA404085806 | LDLR | c.1663A>T (p.Ile555Phe) c.1405A>T (p.Ile469Phe) c.1285A>T (p.Ile429Phe) c.1659A>T c.901A>T (p.Ile301Phe) c.1282A>T (p.Ile428Phe) c.1024A>T (p.Ile342Phe) c.126A>T c.885A>T n.1555A>T n.1522A>T | dbSNP |
19 | g.11113582T>A | CA404085808 | LDLR | c.1664T>A (p.Ile555Asn) c.1406T>A (p.Ile469Asn) c.1286T>A (p.Ile429Asn) c.1660T>A c.902T>A (p.Ile301Asn) c.1283T>A (p.Ile428Asn) c.1025T>A (p.Ile342Asn) c.127T>A c.886T>A n.1556T>A n.1523T>A | ClinVar dbSNP |
19 | g.11113582T>C | CA404085809 | LDLR | c.1664T>C (p.Ile555Thr) c.1406T>C (p.Ile469Thr) c.1286T>C (p.Ile429Thr) c.1660T>C c.902T>C (p.Ile301Thr) c.1283T>C (p.Ile428Thr) c.1025T>C (p.Ile342Thr) c.127T>C c.886T>C n.1556T>C n.1523T>C | |
19 | g.11113582T>G | CA404085807 | LDLR | c.1664T>G (p.Ile555Ser) c.1406T>G (p.Ile469Ser) c.1286T>G (p.Ile429Ser) c.1660T>G c.902T>G (p.Ile301Ser) c.1283T>G (p.Ile428Ser) c.1025T>G (p.Ile342Ser) c.127T>G c.886T>G n.1556T>G n.1523T>G | |
19 | g.11113582T= | CA2322771910 | LDLR | c.1664T= (p.Ile555=) c.1406T= (p.Ile469=) c.1286T= (p.Ile429=) c.1660T= c.902T= (p.Ile301=) c.1283T= (p.Ile428=) c.1025T= (p.Ile342=) c.127T= c.886T= n.1556T= n.1523T= | |
19 | g.11113583C>A | CA505743074 | LDLR | c.1665C>A (p.Ile555=) c.1407C>A (p.Ile469=) c.1287C>A (p.Ile429=) c.1661C>A c.903C>A (p.Ile301=) c.1284C>A (p.Ile428=) c.1026C>A (p.Ile342=) c.128C>A c.887C>A n.1557C>A n.1524C>A | |
19 | g.11113583C>G | CA404085814 | LDLR | c.1665C>G (p.Ile555Met) c.1407C>G (p.Ile469Met) c.1287C>G (p.Ile429Met) c.1661C>G c.903C>G (p.Ile301Met) c.1284C>G (p.Ile428Met) c.1026C>G (p.Ile342Met) c.128C>G c.887C>G n.1557C>G n.1524C>G | |
19 | g.11113583C>T | CA505743075 | LDLR | c.1665C>T (p.Ile555=) c.1407C>T (p.Ile469=) c.1287C>T (p.Ile429=) c.1661C>T c.903C>T (p.Ile301=) c.1284C>T (p.Ile428=) c.1026C>T (p.Ile342=) c.128C>T c.887C>T n.1557C>T n.1524C>T | ClinVar gnomAD v4 |
19 | g.11113584A= | CA2322771911 | LDLR | c.1666A= (p.Ser556=) c.1408A= (p.Ser470=) c.1288A= (p.Ser430=) c.1662A= c.904A= (p.Ser302=) c.1285A= (p.Ser429=) c.1027A= (p.Ser343=) c.129A= c.888A= n.1558A= n.1525A= | |
19 | g.11113584A>C | CA404085816 | LDLR | c.1666A>C (p.Ser556Arg) c.1408A>C (p.Ser470Arg) c.1288A>C (p.Ser430Arg) c.1662A>C c.904A>C (p.Ser302Arg) c.1285A>C (p.Ser429Arg) c.1027A>C (p.Ser343Arg) c.129A>C c.888A>C n.1558A>C n.1525A>C | |
19 | g.11113584A>G | CA10654852 | LDLR | c.1666A>G (p.Ser556Gly) c.1408A>G (p.Ser470Gly) c.1288A>G (p.Ser430Gly) c.1662A>G c.904A>G (p.Ser302Gly) c.1285A>G (p.Ser429Gly) c.1027A>G (p.Ser343Gly) c.129A>G c.888A>G n.1558A>G n.1525A>G | ClinVar dbSNP gnomAD v4 |
19 | g.11113584A>T | CA404085821 | LDLR | c.1666A>T (p.Ser556Cys) c.1408A>T (p.Ser470Cys) c.1288A>T (p.Ser430Cys) c.1662A>T c.904A>T (p.Ser302Cys) c.1285A>T (p.Ser429Cys) c.1027A>T (p.Ser343Cys) c.129A>T c.888A>T n.1558A>T n.1525A>T | ClinVar dbSNP |
19 | g.11113585G>A | CA305300099 | LDLR | c.1667G>A (p.Ser556Asn) c.1409G>A (p.Ser470Asn) c.1289G>A (p.Ser430Asn) c.1663G>A c.905G>A (p.Ser302Asn) c.1286G>A (p.Ser429Asn) c.1028G>A (p.Ser343Asn) c.130G>A c.889G>A n.1559G>A n.1526G>A | dbSNP |
19 | g.11113585G>C | CA404085826 | LDLR | c.1667G>C (p.Ser556Thr) c.1409G>C (p.Ser470Thr) c.1289G>C (p.Ser430Thr) c.1663G>C c.905G>C (p.Ser302Thr) c.1286G>C (p.Ser429Thr) c.1028G>C (p.Ser343Thr) c.130G>C c.889G>C n.1559G>C n.1526G>C | |
19 | g.11113585G= | CA2322771912 | LDLR | c.1667G= (p.Ser556=) c.1409G= (p.Ser470=) c.1289G= (p.Ser430=) c.1663G= c.905G= (p.Ser302=) c.1286G= (p.Ser429=) c.1028G= (p.Ser343=) c.130G= c.889G= n.1559G= n.1526G= | |
19 | g.11113585G>T | CA404085828 | LDLR | c.1667G>T (p.Ser556Ile) c.1409G>T (p.Ser470Ile) c.1289G>T (p.Ser430Ile) c.1663G>T c.905G>T (p.Ser302Ile) c.1286G>T (p.Ser429Ile) c.1028G>T (p.Ser343Ile) c.130G>T c.889G>T n.1559G>T n.1526G>T | |
19 | g.11113586C>A | CA404085832 | LDLR | c.1668C>A (p.Ser556Arg) c.1410C>A (p.Ser470Arg) c.1290C>A (p.Ser430Arg) c.1664C>A c.906C>A (p.Ser302Arg) c.1287C>A (p.Ser429Arg) c.1029C>A (p.Ser343Arg) c.131C>A c.890C>A n.1560C>A n.1527C>A | |
19 | g.11113586C>G | CA404085835 | LDLR | c.1668C>G (p.Ser556Arg) c.1410C>G (p.Ser470Arg) c.1290C>G (p.Ser430Arg) c.1664C>G c.906C>G (p.Ser302Arg) c.1287C>G (p.Ser429Arg) c.1029C>G (p.Ser343Arg) c.131C>G c.890C>G n.1560C>G n.1527C>G | |
19 | g.11113586C>T | CA505743077 | LDLR | c.1668C>T (p.Ser556=) c.1410C>T (p.Ser470=) c.1290C>T (p.Ser430=) c.1664C>T c.906C>T (p.Ser302=) c.1287C>T (p.Ser429=) c.1029C>T (p.Ser343=) c.131C>T c.890C>T n.1560C>T n.1527C>T | |
19 | g.11113587del | CA2499225319 | LDLR | c.1669del (p.Arg557GlufsTer?) c.1411del (p.Arg471GlufsTer?) c.1291del (p.Arg431GlufsTer?) c.1665del c.907del (p.Arg303GlufsTer?) c.1288del (p.Arg430GlufsTer?) c.1030del (p.Arg344GlufsTer?) c.132del c.891del n.1561del n.1528del | ClinVar dbSNP |
19 | g.11113587A= | CA2322771913 | LDLR | c.1669A= (p.Arg557=) c.1411A= (p.Arg471=) c.1291A= (p.Arg431=) c.1665A= c.907A= (p.Arg303=) c.1288A= (p.Arg430=) c.1030A= (p.Arg344=) c.132A= c.891A= n.1561A= n.1528A= | |
19 | g.11113587A>C | CA505743079 | LDLR | c.1669A>C (p.Arg557=) c.1411A>C (p.Arg471=) c.1291A>C (p.Arg431=) c.1665A>C c.907A>C (p.Arg303=) c.1288A>C (p.Arg430=) c.1030A>C (p.Arg344=) c.132A>C c.891A>C n.1561A>C n.1528A>C | |
19 | g.11113587A>G | CA10585440 | LDLR | c.1669A>G (p.Arg557Gly) c.1411A>G (p.Arg471Gly) c.1291A>G (p.Arg431Gly) c.1665A>G c.907A>G (p.Arg303Gly) c.1288A>G (p.Arg430Gly) c.1030A>G (p.Arg344Gly) c.132A>G c.891A>G n.1561A>G n.1528A>G | ClinVar dbSNP |
19 | g.11113587A>T | CA404085840 | LDLR | c.1669A>T (p.Arg557Ter) c.1411A>T (p.Arg471Ter) c.1291A>T (p.Arg431Ter) c.1665A>T c.907A>T (p.Arg303Ter) c.1288A>T (p.Arg430Ter) c.1030A>T (p.Arg344Ter) c.132A>T c.891A>T n.1561A>T n.1528A>T | |
19 | g.11113588G>A | CA404085845 | LDLR | c.1670G>A (p.Arg557Lys) c.1412G>A (p.Arg471Lys) c.1292G>A (p.Arg431Lys) c.1666G>A c.908G>A (p.Arg303Lys) c.1289G>A (p.Arg430Lys) c.1031G>A (p.Arg344Lys) c.133G>A c.892G>A n.1562G>A n.1529G>A | ClinVar dbSNP gnomAD v4 |
19 | g.11113588G>C | CA404085848 | LDLR | c.1670G>C (p.Arg557Thr) c.1412G>C (p.Arg471Thr) c.1292G>C (p.Arg431Thr) c.1666G>C c.908G>C (p.Arg303Thr) c.1289G>C (p.Arg430Thr) c.1031G>C (p.Arg344Thr) c.133G>C c.892G>C n.1562G>C n.1529G>C | |
19 | g.11113588G= | CA2322771915 | LDLR | c.1670G= (p.Arg557=) c.1412G= (p.Arg471=) c.1292G= (p.Arg431=) c.1666G= c.908G= (p.Arg303=) c.1289G= (p.Arg430=) c.1031G= (p.Arg344=) c.133G= c.892G= n.1562G= n.1529G= | |
19 | g.11113588G>T | CA404085843 | LDLR | c.1670G>T (p.Arg557Ile) c.1412G>T (p.Arg471Ile) c.1292G>T (p.Arg431Ile) c.1666G>T c.908G>T (p.Arg303Ile) c.1289G>T (p.Arg430Ile) c.1031G>T (p.Arg344Ile) c.133G>T c.892G>T n.1562G>T n.1529G>T | |
19 | g.11113588_11113590delinsGAG | CA2322771914 | LDLR | c.1670_1672delinsGAG (p.Arg557=) c.1412_1414delinsGAG (p.Arg471=) c.1292_1294delinsGAG (p.Arg431=) c.1666_1668delinsGAG c.908_910delinsGAG (p.Arg303=) c.1289_1291delinsGAG (p.Arg430=) c.1031_1033delinsGAG (p.Arg344=) c.133_135delinsGAG c.892_894delinsGAG n.1562_1564delinsGAG n.1529_1531delinsGAG | |
19 | g.11113588_11113589insGGAC | CA034225 | LDLR | c.1670_1671insGGAC (p.Ile559ArgfsTer?) c.1412_1413insGGAC (p.Ile473ArgfsTer?) c.1292_1293insGGAC (p.Ile433ArgfsTer?) c.1666_1667insGGAC c.908_909insGGAC (p.Ile305ArgfsTer?) c.1289_1290insGGAC (p.Ile432ArgfsTer?) c.1031_1032insGGAC (p.Ile346ArgfsTer?) c.133_134insGGAC c.892_893insGGAC n.1562_1563insGGAC n.1529_1530insGGAC | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.11113589A= | CA2322771916 | LDLR | c.1671A= (p.Arg557=) c.1413A= (p.Arg471=) c.1293A= (p.Arg431=) c.1667A= c.909A= (p.Arg303=) c.1290A= (p.Arg430=) c.1032A= (p.Arg344=) c.134A= c.893A= n.1563A= n.1530A= | |
19 | g.11113589A>C | CA404085854 | LDLR | c.1671A>C (p.Arg557Ser) c.1413A>C (p.Arg471Ser) c.1293A>C (p.Arg431Ser) c.1667A>C c.909A>C (p.Arg303Ser) c.1290A>C (p.Arg430Ser) c.1032A>C (p.Arg344Ser) c.134A>C c.893A>C n.1563A>C n.1530A>C | |
19 | g.11113589A>G | CA023488 | LDLR | c.1671A>G (p.Arg557=) c.1413A>G (p.Arg471=) c.1293A>G (p.Arg431=) c.1667A>G c.909A>G (p.Arg303=) c.1290A>G (p.Arg430=) c.1032A>G (p.Arg344=) c.134A>G c.893A>G n.1563A>G n.1530A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11113589A>T | CA404085859 | LDLR | c.1671A>T (p.Arg557Ser) c.1413A>T (p.Arg471Ser) c.1293A>T (p.Arg431Ser) c.1667A>T c.909A>T (p.Arg303Ser) c.1290A>T (p.Arg430Ser) c.1032A>T (p.Arg344Ser) c.134A>T c.893A>T n.1563A>T n.1530A>T | dbSNP gnomAD v4 |
19 | g.11113589_11113590delinsAG | CA2322771918 | LDLR | c.1671_1672delinsAG (p.Arg557=) c.1413_1414delinsAG (p.Arg471=) c.1293_1294delinsAG (p.Arg431=) c.1667_1668delinsAG c.909_910delinsAG (p.Arg303=) c.1290_1291delinsAG (p.Arg430=) c.1032_1033delinsAG (p.Arg344=) c.134_135delinsAG c.893_894delinsAG n.1563_1564delinsAG n.1530_1531delinsAG | |
19 | g.11113589_11113590delinsGA | CA913188994 | LDLR | c.1671_1672delinsGA (p.Asp558Asn) c.1413_1414delinsGA (p.Asp472Asn) c.1293_1294delinsGA (p.Asp432Asn) c.1667_1668delinsGA c.909_910delinsGA (p.Asp304Asn) c.1290_1291delinsGA (p.Asp431Asn) c.1032_1033delinsGA (p.Asp345Asn) c.134_135delinsGA c.893_894delinsGA n.1563_1564delinsGA n.1530_1531delinsGA | ClinVar dbSNP |
19 | g.11113589_11113590delinsGGACAT | CA645509280 | LDLR | c.1671_1672delinsGGACAT (p.Gln560HisfsTer?) c.1413_1414delinsGGACAT (p.Gln474HisfsTer?) c.1293_1294delinsGGACAT (p.Gln434HisfsTer?) c.1667_1668delinsGGACAT c.909_910delinsGGACAT (p.Gln306HisfsTer?) c.1290_1291delinsGGACAT (p.Gln433HisfsTer?) c.1032_1033delinsGGACAT (p.Gln347HisfsTer?) c.134_135delinsGGACAT c.893_894delinsGGACAT n.1563_1564delinsGGACAT n.1530_1531delinsGGACAT | ClinVar dbSNP |
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.11113590G>A | CA404085864 | LDLR | c.1672G>A (p.Asp558Asn) c.1414G>A (p.Asp472Asn) c.1294G>A (p.Asp432Asn) c.1668G>A c.910G>A (p.Asp304Asn) c.1291G>A (p.Asp431Asn) c.1033G>A (p.Asp345Asn) c.135G>A c.894G>A n.1564G>A n.1531G>A | ClinVar dbSNP gnomAD v4 |
19 | g.11113590G>C | CA404085861 | LDLR | c.1672G>C (p.Asp558His) c.1414G>C (p.Asp472His) c.1294G>C (p.Asp432His) c.1668G>C c.910G>C (p.Asp304His) c.1291G>C (p.Asp431His) c.1033G>C (p.Asp345His) c.135G>C c.894G>C n.1564G>C n.1531G>C | |
19 | g.11113590G= | CA2322771919 | LDLR | c.1672G= (p.Asp558=) c.1414G= (p.Asp472=) c.1294G= (p.Asp432=) c.1668G= c.910G= (p.Asp304=) c.1291G= (p.Asp431=) c.1033G= (p.Asp345=) c.135G= c.894G= n.1564G= n.1531G= | |
19 | g.11113590G>T | CA023492 | LDLR | c.1672G>T (p.Asp558Tyr) c.1414G>T (p.Asp472Tyr) c.1294G>T (p.Asp432Tyr) c.1668G>T c.910G>T (p.Asp304Tyr) c.1291G>T (p.Asp431Tyr) c.1033G>T (p.Asp345Tyr) c.135G>T c.894G>T n.1564G>T n.1531G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
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.11113591A>C | CA404085867 | LDLR | c.1673A>C (p.Asp558Ala) c.1415A>C (p.Asp472Ala) c.1295A>C (p.Asp432Ala) c.1669A>C c.911A>C (p.Asp304Ala) c.1292A>C (p.Asp431Ala) c.1034A>C (p.Asp345Ala) c.136A>C c.895A>C n.1565A>C n.1532A>C | gnomAD v4 |
19 | g.11113591A>G | CA404085870 | LDLR | c.1673A>G (p.Asp558Gly) c.1415A>G (p.Asp472Gly) c.1295A>G (p.Asp432Gly) c.1669A>G c.911A>G (p.Asp304Gly) c.1292A>G (p.Asp431Gly) c.1034A>G (p.Asp345Gly) c.136A>G c.895A>G n.1565A>G n.1532A>G | |
19 | g.11113591A>T | CA404085873 | LDLR | c.1673A>T (p.Asp558Val) c.1415A>T (p.Asp472Val) c.1295A>T (p.Asp432Val) c.1669A>T c.911A>T (p.Asp304Val) c.1292A>T (p.Asp431Val) c.1034A>T (p.Asp345Val) c.136A>T c.895A>T n.1565A>T n.1532A>T | |
19 | g.11113591_11113594dup | CA10585441 | LDLR | c.1673_1676dup (p.Gln560HisfsTer?) c.1415_1418dup (p.Gln474HisfsTer?) c.1295_1298dup (p.Gln434HisfsTer?) c.1669_1672dup c.911_914dup (p.Gln306HisfsTer?) c.1292_1295dup (p.Gln433HisfsTer?) c.1034_1037dup (p.Gln347HisfsTer?) c.136_139dup c.895_898dup n.1565_1568dup n.1532_1535dup | ClinVar dbSNP |
19 | g.11113592C>A | CA404085880 | LDLR | c.1674C>A (p.Asp558Glu) c.1416C>A (p.Asp472Glu) c.1296C>A (p.Asp432Glu) c.1670C>A c.912C>A (p.Asp304Glu) c.1293C>A (p.Asp431Glu) c.1035C>A (p.Asp345Glu) c.137C>A c.896C>A n.1566C>A n.1533C>A | |
19 | g.11113592C= | CA2322771920 | LDLR | c.1674C= (p.Asp558=) c.1416C= (p.Asp472=) c.1296C= (p.Asp432=) c.1670C= c.912C= (p.Asp304=) c.1293C= (p.Asp431=) c.1035C= (p.Asp345=) c.137C= c.896C= n.1566C= n.1533C= | |
19 | g.11113592C>G | CA404085882 | LDLR | c.1674C>G (p.Asp558Glu) c.1416C>G (p.Asp472Glu) c.1296C>G (p.Asp432Glu) c.1670C>G c.912C>G (p.Asp304Glu) c.1293C>G (p.Asp431Glu) c.1035C>G (p.Asp345Glu) c.137C>G c.896C>G n.1566C>G n.1533C>G | |
19 | g.11113592C>T | CA505743083 | LDLR | c.1674C>T (p.Asp558=) c.1416C>T (p.Asp472=) c.1296C>T (p.Asp432=) c.1670C>T c.912C>T (p.Asp304=) c.1293C>T (p.Asp431=) c.1035C>T (p.Asp345=) c.137C>T c.896C>T n.1566C>T n.1533C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.11113593A= | CA2322771921 | LDLR | c.1675A= (p.Ile559=) c.1417A= (p.Ile473=) c.1297A= (p.Ile433=) c.1671A= c.913A= (p.Ile305=) c.1294A= (p.Ile432=) c.1036A= (p.Ile346=) c.138A= c.897A= n.1567A= n.1534A= | |
19 | g.11113593A>C | CA404085886 | LDLR | c.1675A>C (p.Ile559Leu) c.1417A>C (p.Ile473Leu) c.1297A>C (p.Ile433Leu) c.1671A>C c.913A>C (p.Ile305Leu) c.1294A>C (p.Ile432Leu) c.1036A>C (p.Ile346Leu) c.138A>C c.897A>C n.1567A>C n.1534A>C | |
19 | g.11113593A>G | CA10585442 | LDLR | c.1675A>G (p.Ile559Val) c.1417A>G (p.Ile473Val) c.1297A>G (p.Ile433Val) c.1671A>G c.913A>G (p.Ile305Val) c.1294A>G (p.Ile432Val) c.1036A>G (p.Ile346Val) c.138A>G c.897A>G n.1567A>G n.1534A>G | ClinVar dbSNP gnomAD v4 |
19 | g.11113593A>T | CA404085888 | LDLR | c.1675A>T (p.Ile559Phe) c.1417A>T (p.Ile473Phe) c.1297A>T (p.Ile433Phe) c.1671A>T c.913A>T (p.Ile305Phe) c.1294A>T (p.Ile432Phe) c.1036A>T (p.Ile346Phe) c.138A>T c.897A>T n.1567A>T n.1534A>T | |
19 | g.11113594T>A | CA10585444 | LDLR | c.1676T>A (p.Ile559Asn) c.1418T>A (p.Ile473Asn) c.1298T>A (p.Ile433Asn) c.1672T>A c.914T>A (p.Ile305Asn) c.1295T>A (p.Ile432Asn) c.1037T>A (p.Ile346Asn) c.139T>A c.898T>A n.1568T>A n.1535T>A | ClinVar dbSNP |
19 | g.11113594T>C | CA404085891 | LDLR | c.1676T>C (p.Ile559Thr) c.1418T>C (p.Ile473Thr) c.1298T>C (p.Ile433Thr) c.1672T>C c.914T>C (p.Ile305Thr) c.1295T>C (p.Ile432Thr) c.1037T>C (p.Ile346Thr) c.139T>C c.898T>C n.1568T>C n.1535T>C | |
19 | g.11113594T>G | CA404085893 | LDLR | c.1676T>G (p.Ile559Ser) c.1418T>G (p.Ile473Ser) c.1298T>G (p.Ile433Ser) c.1672T>G c.914T>G (p.Ile305Ser) c.1295T>G (p.Ile432Ser) c.1037T>G (p.Ile346Ser) c.139T>G c.898T>G n.1568T>G n.1535T>G | ClinVar dbSNP |
19 | g.11113594T= | CA2322771922 | LDLR | c.1676T= (p.Ile559=) c.1418T= (p.Ile473=) c.1298T= (p.Ile433=) c.1672T= c.914T= (p.Ile305=) c.1295T= (p.Ile432=) c.1037T= (p.Ile346=) c.139T= c.898T= n.1568T= n.1535T= | |
19 | g.11113594_11113595delinsAA | CA2695228178 | LDLR | c.1676_1677delinsAA (p.Ile559Lys) c.1418_1419delinsAA (p.Ile473Lys) c.1298_1299delinsAA (p.Ile433Lys) c.1672_1673delinsAA c.914_915delinsAA (p.Ile305Lys) c.1295_1296delinsAA (p.Ile432Lys) c.1037_1038delinsAA (p.Ile346Lys) c.139_140delinsAA c.898_899delinsAA n.1568_1569delinsAA n.1535_1536delinsAA | |
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.11113595C>A | CA505743085 | LDLR | c.1677C>A (p.Ile559=) c.1419C>A (p.Ile473=) c.1299C>A (p.Ile433=) c.1673C>A c.915C>A (p.Ile305=) c.1296C>A (p.Ile432=) c.1038C>A (p.Ile346=) c.140C>A c.899C>A n.1569C>A n.1536C>A | |
19 | g.11113595C>G | CA404085899 | LDLR | c.1677C>G (p.Ile559Met) c.1419C>G (p.Ile473Met) c.1299C>G (p.Ile433Met) c.1673C>G c.915C>G (p.Ile305Met) c.1296C>G (p.Ile432Met) c.1038C>G (p.Ile346Met) c.140C>G c.899C>G n.1569C>G n.1536C>G | |
19 | g.11113595C>T | CA505743086 | LDLR | c.1677C>T (p.Ile559=) c.1419C>T (p.Ile473=) c.1299C>T (p.Ile433=) c.1673C>T c.915C>T (p.Ile305=) c.1296C>T (p.Ile432=) c.1038C>T (p.Ile346=) c.140C>T c.899C>T n.1569C>T n.1536C>T | |
19 | g.11113596C>A | CA404085902 | LDLR | c.1678C>A (p.Gln560Lys) c.1420C>A (p.Gln474Lys) c.1300C>A (p.Gln434Lys) c.1674C>A c.916C>A (p.Gln306Lys) c.1297C>A (p.Gln433Lys) c.1039C>A (p.Gln347Lys) c.141C>A c.900C>A n.1570C>A n.1537C>A | |
19 | g.11113596C= | CA2322771923 | LDLR | c.1678C= (p.Gln560=) c.1420C= (p.Gln474=) c.1300C= (p.Gln434=) c.1674C= c.916C= (p.Gln306=) c.1297C= (p.Gln433=) c.1039C= (p.Gln347=) c.141C= c.900C= n.1570C= n.1537C= | |
19 | g.11113596C>G | CA034281 | LDLR | c.1678C>G (p.Gln560Glu) c.1420C>G (p.Gln474Glu) c.1300C>G (p.Gln434Glu) c.1674C>G c.916C>G (p.Gln306Glu) c.1297C>G (p.Gln433Glu) c.1039C>G (p.Gln347Glu) c.141C>G c.900C>G n.1570C>G n.1537C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11113596C>T | CA10585445 | LDLR | c.1678C>T (p.Gln560Ter) c.1420C>T (p.Gln474Ter) c.1300C>T (p.Gln434Ter) c.1674C>T c.916C>T (p.Gln306Ter) c.1297C>T (p.Gln433Ter) c.1039C>T (p.Gln347Ter) c.141C>T c.900C>T n.1570C>T n.1537C>T | ClinVar dbSNP |
19 | g.11113597A= | CA2322771924 | LDLR | c.1679A= (p.Gln560=) c.1421A= (p.Gln474=) c.1301A= (p.Gln434=) c.1675A= c.917A= (p.Gln306=) c.1298A= (p.Gln433=) c.1040A= (p.Gln347=) c.142A= c.901A= n.1571A= n.1538A= | |
19 | g.11113597A>C | CA404085909 | LDLR | c.1679A>C (p.Gln560Pro) c.1421A>C (p.Gln474Pro) c.1301A>C (p.Gln434Pro) c.1675A>C c.917A>C (p.Gln306Pro) c.1298A>C (p.Gln433Pro) c.1040A>C (p.Gln347Pro) c.142A>C c.901A>C n.1571A>C n.1538A>C | |
19 | g.11113597A>G | CA404085913 | LDLR | c.1679A>G (p.Gln560Arg) c.1421A>G (p.Gln474Arg) c.1301A>G (p.Gln434Arg) c.1675A>G c.917A>G (p.Gln306Arg) c.1298A>G (p.Gln433Arg) c.1040A>G (p.Gln347Arg) c.142A>G c.901A>G n.1571A>G n.1538A>G | dbSNP |
19 | g.11113597A>T | CA404085914 | LDLR | c.1679A>T (p.Gln560Leu) c.1421A>T (p.Gln474Leu) c.1301A>T (p.Gln434Leu) c.1675A>T c.917A>T (p.Gln306Leu) c.1298A>T (p.Gln433Leu) c.1040A>T (p.Gln347Leu) c.142A>T c.901A>T n.1571A>T n.1538A>T | |
19 | g.11113598G>A | CA505743089 | LDLR | c.1680G>A (p.Gln560=) c.1422G>A (p.Gln474=) c.1302G>A (p.Gln434=) c.1676G>A c.918G>A (p.Gln306=) c.1299G>A (p.Gln433=) c.1041G>A (p.Gln347=) c.143G>A c.902G>A n.1572G>A n.1539G>A | |
19 | g.11113598G>C | CA404085917 | LDLR | c.1680G>C (p.Gln560His) c.1422G>C (p.Gln474His) c.1302G>C (p.Gln434His) c.1676G>C c.918G>C (p.Gln306His) c.1299G>C (p.Gln433His) c.1041G>C (p.Gln347His) c.143G>C c.902G>C n.1572G>C n.1539G>C | |
19 | g.11113598G>T | CA404085919 | LDLR | c.1680G>T (p.Gln560His) c.1422G>T (p.Gln474His) c.1302G>T (p.Gln434His) c.1676G>T c.918G>T (p.Gln306His) c.1299G>T (p.Gln433His) c.1041G>T (p.Gln347His) c.143G>T c.902G>T n.1572G>T n.1539G>T | ClinVar dbSNP |
19 | g.11113598_11113600delinsGGC | CA2322771925 | LDLR | c.1680_1682delinsGGC (p.Gln560=) c.1422_1424delinsGGC (p.Gln474=) c.1302_1304delinsGGC (p.Gln434=) c.1676_1678delinsGGC c.918_920delinsGGC (p.Gln306=) c.1299_1301delinsGGC (p.Gln433=) c.1041_1043delinsGGC (p.Gln347=) c.143_145delinsGGC c.902_904delinsGGC n.1572_1574delinsGGC n.1539_1541delinsGGC | |
19 | g.11113599G>A | CA404085932 | LDLR | c.1681G>A (p.Ala561Thr) c.1423G>A (p.Ala475Thr) c.1303G>A (p.Ala435Thr) c.1677G>A c.919G>A (p.Ala307Thr) c.1300G>A (p.Ala434Thr) c.1042G>A (p.Ala348Thr) c.144G>A c.903G>A n.1573G>A n.1540G>A | gnomAD v4 |
19 | g.11113599G>C | CA404085924 | LDLR | c.1681G>C (p.Ala561Pro) c.1423G>C (p.Ala475Pro) c.1303G>C (p.Ala435Pro) c.1677G>C c.919G>C (p.Ala307Pro) c.1300G>C (p.Ala434Pro) c.1042G>C (p.Ala348Pro) c.144G>C c.903G>C n.1573G>C n.1540G>C | |
19 | g.11113599G= | CA2322771926 | LDLR | c.1681G= (p.Ala561=) c.1423G= (p.Ala475=) c.1303G= (p.Ala435=) c.1677G= c.919G= (p.Ala307=) c.1300G= (p.Ala434=) c.1042G= (p.Ala348=) c.144G= c.903G= n.1573G= n.1540G= | |
19 | g.11113599G>T | CA404085927 | LDLR | c.1681G>T (p.Ala561Ser) c.1423G>T (p.Ala475Ser) c.1303G>T (p.Ala435Ser) c.1677G>T c.919G>T (p.Ala307Ser) c.1300G>T (p.Ala434Ser) c.1042G>T (p.Ala348Ser) c.144G>T c.903G>T n.1573G>T n.1540G>T | |
19 | g.11113599_11113600delinsA | CA10585446 | LDLR | c.1681_1682delinsA (p.Ala561ThrfsTer?) c.1423_1424delinsA (p.Ala475ThrfsTer?) c.1303_1304delinsA (p.Ala435ThrfsTer?) c.1677_1678delinsA c.919_920delinsA (p.Ala307ThrfsTer?) c.1300_1301delinsA (p.Ala434ThrfsTer?) c.1042_1043delinsA (p.Ala348ThrfsTer?) c.144_145delinsA c.903_904delinsA n.1573_1574delinsA n.1540_1541delinsA | ClinVar dbSNP |
19 | g.11113600C>A | CA404085935 | LDLR | c.1682C>A (p.Ala561Asp) c.1424C>A (p.Ala475Asp) c.1304C>A (p.Ala435Asp) c.1678C>A c.920C>A (p.Ala307Asp) c.1301C>A (p.Ala434Asp) c.1043C>A (p.Ala348Asp) c.145C>A c.904C>A n.1574C>A n.1541C>A | |
19 | g.11113600C= | CA2322771927 | LDLR | c.1682C= (p.Ala561=) c.1424C= (p.Ala475=) c.1304C= (p.Ala435=) c.1678C= c.920C= (p.Ala307=) c.1301C= (p.Ala434=) c.1043C= (p.Ala348=) c.145C= c.904C= n.1574C= n.1541C= | |
19 | g.11113600C>G | CA404085939 | LDLR | c.1682C>G (p.Ala561Gly) c.1424C>G (p.Ala475Gly) c.1304C>G (p.Ala435Gly) c.1678C>G c.920C>G (p.Ala307Gly) c.1301C>G (p.Ala434Gly) c.1043C>G (p.Ala348Gly) c.145C>G c.904C>G n.1574C>G n.1541C>G | |
19 | g.11113600C>T | CA10585447 | LDLR | c.1682C>T (p.Ala561Val) c.1424C>T (p.Ala475Val) c.1304C>T (p.Ala435Val) c.1678C>T c.920C>T (p.Ala307Val) c.1301C>T (p.Ala434Val) c.1043C>T (p.Ala348Val) c.145C>T c.904C>T n.1574C>T n.1541C>T | ClinVar dbSNP gnomAD v4 |
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.11113601C>A | CA505743095 | LDLR | c.1683C>A (p.Ala561=) c.1425C>A (p.Ala475=) c.1305C>A (p.Ala435=) c.1679C>A c.921C>A (p.Ala307=) c.1302C>A (p.Ala434=) c.1044C>A (p.Ala348=) c.146C>A c.905C>A n.1575C>A n.1542C>A | |
19 | g.11113601C>G | CA505743096 | LDLR | c.1683C>G (p.Ala561=) c.1425C>G (p.Ala475=) c.1305C>G (p.Ala435=) c.1679C>G c.921C>G (p.Ala307=) c.1302C>G (p.Ala434=) c.1044C>G (p.Ala348=) c.146C>G c.905C>G n.1575C>G n.1542C>G | ClinVar dbSNP gnomAD v4 |
19 | g.11113601C>T | CA505743097 | LDLR | c.1683C>T (p.Ala561=) c.1425C>T (p.Ala475=) c.1305C>T (p.Ala435=) c.1679C>T c.921C>T (p.Ala307=) c.1302C>T (p.Ala434=) c.1044C>T (p.Ala348=) c.146C>T c.905C>T n.1575C>T n.1542C>T | |
19 | g.11113602C>A | CA404085950 | LDLR | c.1684C>A (p.Pro562Thr) c.1426C>A (p.Pro476Thr) c.1306C>A (p.Pro436Thr) c.1680C>A c.922C>A (p.Pro308Thr) c.1303C>A (p.Pro435Thr) c.1045C>A (p.Pro349Thr) c.147C>A c.906C>A n.1576C>A n.1543C>A | |
19 | g.11113602C= | CA2322771928 | LDLR | c.1684C= (p.Pro562=) c.1426C= (p.Pro476=) c.1306C= (p.Pro436=) c.1680C= c.922C= (p.Pro308=) c.1303C= (p.Pro435=) c.1045C= (p.Pro349=) c.147C= c.906C= n.1576C= n.1543C= | |
19 | g.11113602C>G | CA404085953 | LDLR | c.1684C>G (p.Pro562Ala) c.1426C>G (p.Pro476Ala) c.1306C>G (p.Pro436Ala) c.1680C>G c.922C>G (p.Pro308Ala) c.1303C>G (p.Pro435Ala) c.1045C>G (p.Pro349Ala) c.147C>G c.906C>G n.1576C>G n.1543C>G | |
19 | g.11113602C>T | CA10585448 | LDLR | c.1684C>T (p.Pro562Ser) c.1426C>T (p.Pro476Ser) c.1306C>T (p.Pro436Ser) c.1680C>T c.922C>T (p.Pro308Ser) c.1303C>T (p.Pro435Ser) c.1045C>T (p.Pro349Ser) c.147C>T c.906C>T n.1576C>T n.1543C>T | ClinVar dbSNP COSMIC |
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 |