NM_000527.5(LDLR):c.1816G>T (p.Ala606Ser)
|
rs72658865
|
0.00016
|
NM_000527.5(LDLR):c.2101G>A (p.Gly701Ser)
|
rs368838866
|
0.00012
|
NM_000527.5(LDLR):c.907C>T (p.Arg303Trp)
|
rs151207122
|
0.00009
|
NM_000527.5(LDLR):c.1085A>C (p.Asp362Ala)
|
rs138315511
|
0.00008
|
NM_000527.5(LDLR):c.1503G>A (p.Ala501=)
|
rs368889457
|
0.00008
|
NM_000527.5(LDLR):c.760C>G (p.Gln254Glu)
|
rs759109699
|
0.00007
|
NM_000527.5(LDLR):c.2098G>A (p.Asp700Asn)
|
rs375009082
|
0.00006
|
NM_000527.5(LDLR):c.233G>A (p.Arg78His)
|
rs146675823
|
0.00006
|
NM_000527.5(LDLR):c.344G>A (p.Arg115His)
|
rs201102461
|
0.00006
|
NM_000527.5(LDLR):c.967G>A (p.Gly323Ser)
|
rs373869746
|
0.00006
|
NM_000527.5(LDLR):c.979C>T (p.His327Tyr)
|
rs747507019
|
0.00006
|
NM_000527.5(LDLR):c.1003G>A (p.Gly335Ser)
|
rs544453230
|
0.00004
|
NM_000527.5(LDLR):c.1444G>A (p.Asp482Asn)
|
rs139624145
|
0.00004
|
NM_000527.5(LDLR):c.1868T>C (p.Ile623Thr)
|
rs141155833
|
0.00004
|
NM_000527.5(LDLR):c.2072C>T (p.Ser691Leu)
|
rs369943481
|
0.00004
|
NM_000527.5(LDLR):c.232C>T (p.Arg78Cys)
|
rs370860696
|
0.00004
|
NM_000527.5(LDLR):c.718G>A (p.Glu240Lys)
|
rs768563000
|
0.00004
|
NM_000527.5(LDLR):c.798T>A (p.Asp266Glu)
|
rs139043155
|
0.00004
|
NM_000527.4(LDLR):c.-286C>G
|
rs989307060
|
0.00003
|
NM_000527.5(LDLR):c.-121T>C
|
rs777716188
|
0.00003
|
NM_000527.5(LDLR):c.1060+9C>T
|
rs540073140
|
0.00003
|
NM_000527.5(LDLR):c.1221C>T (p.His407=)
|
rs778424518
|
0.00003
|
NM_000527.5(LDLR):c.1247G>A (p.Arg416Gln)
|
rs773658037
|
0.00003
|
NM_000527.5(LDLR):c.1747C>T (p.His583Tyr)
|
rs730882109
|
0.00003
|
NM_000527.5(LDLR):c.2375T>C (p.Ile792Thr)
|
rs764493597
|
0.00003
|
NM_000527.5(LDLR):c.2448G>C (p.Lys816Asn)
|
rs1399689294
|
0.00003
|
NM_000527.5(LDLR):c.292G>A (p.Gly98Ser)
|
rs750474121
|
0.00003
|
NM_000527.5(LDLR):c.343C>T (p.Arg115Cys)
|
rs774723292
|
0.00003
|
NM_000527.5(LDLR):c.82G>A (p.Glu28Lys)
|
rs551747280
|
0.00003
|
NM_000527.5(LDLR):c.862G>A (p.Glu288Lys)
|
rs368657165
|
0.00003
|
NM_000527.5(LDLR):c.986G>A (p.Cys329Tyr)
|
rs761954844
|
0.00003
|
NM_000527.4(LDLR):c.-139C>G
|
rs879254371
|
0.00002
|
NM_000527.4(LDLR):c.-153C>T
|
rs879254366
|
0.00002
|
NM_000527.5(LDLR):c.1166C>T (p.Thr389Met)
|
rs149227308
|
0.00002
|
NM_000527.5(LDLR):c.1335C>A (p.Asp445Glu)
|
rs749780672
|
0.00002
|
NM_000527.5(LDLR):c.1529C>T (p.Thr510Met)
|
rs755154048
|
0.00002
|
NM_000527.5(LDLR):c.1720C>T (p.Arg574Cys)
|
rs185098634
|
0.00002
|
NM_000527.5(LDLR):c.2050G>A (p.Ala684Thr)
|
rs774730452
|
0.00002
|
NM_000527.5(LDLR):c.409G>A (p.Gly137Ser)
|
rs730882082
|
0.00002
|
NM_000527.4(LDLR):c.-120C>T
|
rs875989886
|
0.00001
|
NM_000527.5(LDLR):c.1004G>A (p.Gly335Asp)
|
rs869320650
|
0.00001
|
NM_000527.5(LDLR):c.1133A>C (p.Gln378Pro)
|
rs730882098
|
0.00001
|
NM_000527.5(LDLR):c.1153C>G (p.Leu385Val)
|
rs879254808
|
0.00001
|
NM_000527.5(LDLR):c.1186+5G>C
|
rs879254821
|
0.00001
|
NM_000527.5(LDLR):c.1195G>A (p.Ala399Thr)
|
rs730882099
|
0.00001
|
NM_000527.5(LDLR):c.1217G>A (p.Arg406Gln)
|
rs552422789
|
0.00001
|
NM_000527.5(LDLR):c.1238C>T (p.Thr413Met)
|
rs368562025
|
0.00001
|
NM_000527.5(LDLR):c.1241T>G (p.Leu414Arg)
|
rs748554592
|
0.00001
|
NM_000527.5(LDLR):c.1307T>C (p.Val436Ala)
|
rs779732323
|
0.00001
|
NM_000527.5(LDLR):c.1367T>C (p.Leu456Pro)
|
rs200143634
|
0.00001
|
NM_000527.5(LDLR):c.1381G>T (p.Gly461Cys)
|
rs193922568
|
0.00001
|
NM_000527.5(LDLR):c.1576C>T (p.Pro526Ser)
|
rs730882106
|
0.00001
|
NM_000527.5(LDLR):c.1586G>A (p.Gly529Asp)
|
rs878854025
|
0.00001
|
NM_000527.5(LDLR):c.1661C>T (p.Ser554Leu)
|
rs879254976
|
0.00001
|
NM_000527.5(LDLR):c.1784G>A (p.Arg595Gln)
|
rs201102492
|
0.00001
|
NM_000527.5(LDLR):c.1845G>A (p.Glu615=)
|
rs879255047
|
0.00001
|
NM_000527.5(LDLR):c.1898G>A (p.Arg633His)
|
rs754536745
|
0.00001
|
NM_000527.5(LDLR):c.190+4A>T
|
rs769446356
|
0.00001
|
NM_000527.5(LDLR):c.1906G>A (p.Gly636Ser)
|
rs764550980
|
0.00001
|
NM_000527.5(LDLR):c.1951G>A (p.Asp651Asn)
|
rs730882110
|
0.00001
|
NM_000527.5(LDLR):c.1966C>A (p.His656Asn)
|
rs762815611
|
0.00001
|
NM_000527.5(LDLR):c.2113G>C (p.Ala705Pro)
|
rs193922570
|
0.00001
|
NM_000527.5(LDLR):c.2119G>A (p.Asp707Asn)
|
rs879255142
|
0.00001
|
NM_000527.5(LDLR):c.299A>T (p.Asp100Val)
|
rs879254460
|
0.00001
|
NM_000527.5(LDLR):c.325T>C (p.Cys109Arg)
|
rs140807148
|
0.00001
|
NM_000527.5(LDLR):c.337G>A (p.Glu113Lys)
|
rs769383881
|
0.00001
|
NM_000527.5(LDLR):c.352G>T (p.Asp118Tyr)
|
rs730882080
|
0.00001
|
NM_000527.5(LDLR):c.504C>A (p.Asp168Glu)
|
rs777321035
|
0.00001
|
NM_000527.5(LDLR):c.631C>T (p.His211Tyr)
|
rs771917370
|
0.00001
|
NM_000527.5(LDLR):c.632A>T (p.His211Leu)
|
rs879254603
|
0.00001
|
NM_000527.5(LDLR):c.664T>C (p.Cys222Arg)
|
rs577934998
|
0.00001
|
NM_000527.5(LDLR):c.709C>T (p.Arg237Cys)
|
rs879254657
|
0.00001
|
NM_000527.5(LDLR):c.746T>C (p.Ile249Thr)
|
rs879254665
|
0.00001
|
NM_000527.5(LDLR):c.846C>A (p.Phe282Leu)
|
rs730882090
|
0.00001
|
NM_000527.5(LDLR):c.859G>A (p.Gly287Ser)
|
rs375495026
|
0.00001
|
NM_000527.5(LDLR):c.898A>G (p.Arg300Gly)
|
rs767618089
|
0.00001
|
NM_000527.5(LDLR):c.91G>A (p.Glu31Lys)
|
rs776421777
|
0.00001
|
NM_000527.5(LDLR):c.932A>C (p.Lys311Thr)
|
rs761765254
|
0.00001
|
NM_000527.5(LDLR):c.947A>G (p.Asn316Ser)
|
rs730882094
|
0.00001
|
NM_000527.5(LDLR):c.949G>A (p.Glu317Lys)
|
rs746834464
|
0.00001
|
GRCh37/hg19 19p13.2(chr19:11210898-11222316)x3
|
|
|
NM_000527.4(LDLR):c.-101T>C
|
rs747068848
|
|
NM_000527.4(LDLR):c.-136C>G
|
rs879254374
|
|
NM_000527.4(LDLR):c.-138T>C
|
rs879254372
|
|
NM_000527.4(LDLR):c.-138del
|
rs387906307
|
|
NM_000527.4(LDLR):c.-139_-130del
|
rs2077055015
|
|
NM_000527.4(LDLR):c.-140C>A
|
|
|
NM_000527.4(LDLR):c.-140C>G
|
rs875989887
|
|
NM_000527.4(LDLR):c.-140C>T
|
rs875989887
|
|
NM_000527.4(LDLR):c.-149C>A
|
rs879254368
|
|
NM_000527.4(LDLR):c.-152C>T
|
|
|
NM_000527.4(LDLR):c.-156C>T
|
rs879254364
|
|
NM_000527.4(LDLR):c.-97G>A
|
rs944580031
|
|
NM_000527.4(LDLR):c.1690A>C (p.Asn564His)
|
|
|
NM_000527.5(LDLR):c.1003G>C (p.Gly335Arg)
|
rs544453230
|
|
NM_000527.5(LDLR):c.1004G>T (p.Gly335Val)
|
rs869320650
|
|
NM_000527.5(LDLR):c.1007A>G (p.Tyr336Cys)
|
rs879254750
|
|
NM_000527.5(LDLR):c.1019G>A (p.Cys340Tyr)
|
rs755757866
|
|
NM_000527.5(LDLR):c.1024G>T (p.Asp342Tyr)
|
rs139361635
|
|
NM_000527.5(LDLR):c.1027G>A (p.Gly343Ser)
|
|
|
NM_000527.5(LDLR):c.1060+10G>A
|
|
|
NM_000527.5(LDLR):c.1061A>G (p.Asp354Gly)
|
rs755449669
|
|
NM_000527.5(LDLR):c.1066G>C (p.Asp356His)
|
rs767767730
|
|
NM_000527.5(LDLR):c.1066G>T (p.Asp356Tyr)
|
rs767767730
|
|
NM_000527.5(LDLR):c.1069G>A (p.Glu357Lys)
|
rs879254781
|
|
NM_000527.5(LDLR):c.1070A>G (p.Glu357Gly)
|
rs753248521
|
|
NM_000527.5(LDLR):c.1088C>A (p.Thr363Asn)
|
rs200533979
|
|
NM_000527.5(LDLR):c.108C>A (p.Asp36Glu)
|
rs373144619
|
|
NM_000527.5(LDLR):c.1090T>C (p.Cys364Arg)
|
|
|
NM_000527.5(LDLR):c.1103G>A (p.Cys368Tyr)
|
|
|
NM_000527.5(LDLR):c.1145G>T (p.Gly382Val)
|
rs752951310
|
|
NM_000527.5(LDLR):c.1154T>G (p.Leu385Arg)
|
rs879254809
|
|
NM_000527.5(LDLR):c.1186+5G>A
|
rs879254821
|
|
NM_000527.5(LDLR):c.1186G>A (p.Gly396Ser)
|
rs879254820
|
|
NM_000527.5(LDLR):c.1196C>A (p.Ala399Asp)
|
rs875989918
|
|
NM_000527.5(LDLR):c.1199_1207del (p.Tyr400_Phe402del)
|
rs879254826
|
|
NM_000527.5(LDLR):c.1201C>G (p.Leu401Val)
|
|
|
NM_000527.5(LDLR):c.1202T>A (p.Leu401His)
|
rs121908038
|
|
NM_000527.5(LDLR):c.1204TTC[1] (p.Phe403del)
|
rs879254830
|
|
NM_000527.5(LDLR):c.1210A>C (p.Thr404Pro)
|
rs879254834
|
|
NM_000527.5(LDLR):c.1210A>T (p.Thr404Ser)
|
|
|
NM_000527.5(LDLR):c.1222G>C (p.Glu408Gln)
|
rs137943601
|
|
NM_000527.5(LDLR):c.1223A>C (p.Glu408Ala)
|
rs879254838
|
|
NM_000527.5(LDLR):c.1230G>C (p.Arg410Ser)
|
rs879254839
|
|
NM_000527.5(LDLR):c.1252G>A (p.Glu418Lys)
|
|
|
NM_000527.5(LDLR):c.1255T>C (p.Tyr419His)
|
rs879254847
|
|
NM_000527.5(LDLR):c.1277T>G (p.Leu426Arg)
|
rs879254851
|
|
NM_000527.5(LDLR):c.1284C>G (p.Asn428Lys)
|
rs368708058
|
|
NM_000527.5(LDLR):c.1285G>C (p.Val429Leu)
|
rs28942078
|
|
NM_000527.5(LDLR):c.1291G>C (p.Ala431Pro)
|
rs28942079
|
|
NM_000527.5(LDLR):c.1294C>G (p.Leu432Val)
|
rs730882100
|
|
NM_000527.5(LDLR):c.1300A>C (p.Thr434Pro)
|
rs1555805237
|
|
NM_000527.5(LDLR):c.1301C>G (p.Thr434Arg)
|
rs745343524
|
|
NM_000527.5(LDLR):c.1318A>G (p.Arg440Gly)
|
rs879254861
|
|
NM_000527.5(LDLR):c.1322T>A (p.Ile441Asn)
|
rs879254862
|
|
NM_000527.5(LDLR):c.1323C>G (p.Ile441Met)
|
rs5933
|
|
NM_000527.5(LDLR):c.1324T>C (p.Tyr442His)
|
rs879254863
|
|
NM_000527.5(LDLR):c.1328G>C (p.Trp443Ser)
|
rs879254866
|
|
NM_000527.5(LDLR):c.1340C>G (p.Ser447Cys)
|
rs879254870
|
|
NM_000527.5(LDLR):c.1366C>T (p.Leu456Phe)
|
rs761004553
|
|
NM_000527.5(LDLR):c.1394A>G (p.Tyr465Cys)
|
rs879254889
|
|
NM_000527.5(LDLR):c.139G>A (p.Asp47Asn)
|
|
|
NM_000527.5(LDLR):c.1403T>A (p.Val468Asp)
|
rs879254890
|
|
NM_000527.5(LDLR):c.1408A>G (p.Ser470Gly)
|
rs1057516128
|
|
NM_000527.5(LDLR):c.1414G>A (p.Asp472Asn)
|
rs730882102
|
|
NM_000527.5(LDLR):c.1418T>A (p.Ile473Asn)
|
rs879254895
|
|
NM_000527.5(LDLR):c.1424C>T (p.Ala475Val)
|
rs879254897
|
|
NM_000527.5(LDLR):c.1432G>A (p.Gly478Arg)
|
|
|
NM_000527.5(LDLR):c.1441G>A (p.Val481Met)
|
rs879254903
|
|
NM_000527.5(LDLR):c.1447T>C (p.Trp483Arg)
|
rs879254905
|
|
NM_000527.5(LDLR):c.1455C>G (p.His485Gln)
|
rs879254908
|
|
NM_000527.5(LDLR):c.1460A>G (p.Asn487Ser)
|
rs879254912
|
|
NM_000527.5(LDLR):c.1463T>C (p.Ile488Thr)
|
|
|
NM_000527.5(LDLR):c.1474G>A (p.Asp492Asn)
|
|
|
NM_000527.5(LDLR):c.1549T>C (p.Ser517Pro)
|
rs879254936
|
|
NM_000527.5(LDLR):c.1552A>G (p.Lys518Glu)
|
rs879254937
|
|
NM_000527.5(LDLR):c.1567G>T (p.Val523Leu)
|
|
|
NM_000527.5(LDLR):c.1570G>A (p.Val524Met)
|
|
|
NM_000527.5(LDLR):c.1576C>A (p.Pro526Thr)
|
rs730882106
|
|
NM_000527.5(LDLR):c.1577C>A (p.Pro526His)
|
rs879254944
|
|
NM_000527.5(LDLR):c.1577C>G (p.Pro526Arg)
|
rs879254944
|
|
NM_000527.5(LDLR):c.1577C>T (p.Pro526Leu)
|
|
|
NM_000527.5(LDLR):c.1585G>C (p.Gly529Arg)
|
|
|
NM_000527.5(LDLR):c.1586+5G>A
|
rs781362878
|
|
NM_000527.5(LDLR):c.1586+5G>C
|
rs781362878
|
|
NM_000527.5(LDLR):c.1592T>G (p.Met531Arg)
|
rs779913921
|
|
NM_000527.5(LDLR):c.1600_1608del (p.Thr534_Trp536del)
|
rs879254953
|
|
NM_000527.5(LDLR):c.1618G>T (p.Ala540Ser)
|
rs769370816
|
|
NM_000527.5(LDLR):c.1640T>C (p.Leu547Pro)
|
rs879254968
|
|
NM_000527.5(LDLR):c.1646G>C (p.Gly549Ala)
|
rs28941776
|
|
NM_000527.5(LDLR):c.1684_1686dup (p.Trp562dup)
|
rs879254983
|
|
NM_000527.5(LDLR):c.1686G>T (p.Trp562Cys)
|
rs879254985
|
|
NM_000527.5(LDLR):c.168TGA[1] (p.Asp57del)
|
rs879254421
|
|
NM_000527.5(LDLR):c.1690A>G (p.Asn564Asp)
|
rs397509365
|
|
NM_000527.5(LDLR):c.1694G>A (p.Gly565Asp)
|
rs28942082
|
|
NM_000527.5(LDLR):c.1721G>A (p.Arg574His)
|
|
|
NM_000527.5(LDLR):c.1721G>T (p.Arg574Leu)
|
rs777188764
|
|
NM_000527.5(LDLR):c.1723C>T (p.Leu575Phe)
|
rs1205480064
|
|
NM_000527.5(LDLR):c.1731G>C (p.Trp577Cys)
|
rs875989928
|
|
NM_000527.5(LDLR):c.1731G>T (p.Trp577Cys)
|
rs875989928
|
|
NM_000527.5(LDLR):c.1745T>C (p.Leu582Pro)
|
rs875989930
|
|
NM_000527.5(LDLR):c.1750T>C (p.Ser584Pro)
|
rs879255010
|
|
NM_000527.5(LDLR):c.1783C>T (p.Arg595Trp)
|
|
|
NM_000527.5(LDLR):c.1796T>C (p.Leu599Ser)
|
rs879255025
|
|
NM_000527.5(LDLR):c.1796T>G (p.Leu599Trp)
|
rs879255025
|
|
NM_000527.5(LDLR):c.1800G>C (p.Glu600Asp)
|
|
|
NM_000527.5(LDLR):c.1816G>A (p.Ala606Thr)
|
rs72658865
|
|
NM_000527.5(LDLR):c.1828T>C (p.Ser610Pro)
|
rs2077475503
|
|
NM_000527.5(LDLR):c.1836C>T (p.Ala612=)
|
rs143872778
|
|
NM_000527.5(LDLR):c.1840T>A (p.Phe614Ile)
|
rs879255043
|
|
NM_000527.5(LDLR):c.1843G>A (p.Glu615Lys)
|
rs879255045
|
|
NM_000527.5(LDLR):c.1853T>G (p.Val618Gly)
|
rs1057519677
|
|
NM_000527.5(LDLR):c.1855T>C (p.Phe619Leu)
|
rs747134711
|
|
NM_000527.5(LDLR):c.185C>G (p.Thr62Arg)
|
rs376207800
|
|
NM_000527.5(LDLR):c.1860G>T (p.Trp620Cys)
|
rs875989933
|
|
NM_000527.5(LDLR):c.1865A>G (p.Asp622Gly)
|
rs879255060
|
|
NM_000527.5(LDLR):c.1879G>A (p.Ala627Thr)
|
rs879255066
|
|
NM_000527.5(LDLR):c.1883T>C (p.Ile628Thr)
|
rs879255067
|
|
NM_000527.5(LDLR):c.1885T>G (p.Phe629Val)
|
rs765736500
|
|
NM_000527.5(LDLR):c.188G>A (p.Cys63Tyr)
|
rs879254427
|
|
NM_000527.5(LDLR):c.1907G>A (p.Gly636Asp)
|
rs879255072
|
|
NM_000527.5(LDLR):c.1907G>T (p.Gly636Val)
|
rs879255072
|
|
NM_000527.5(LDLR):c.1916T>A (p.Val639Asp)
|
rs794728584
|
|
NM_000527.5(LDLR):c.1928C>T (p.Ala643Val)
|
rs879255075
|
|
NM_000527.5(LDLR):c.1942T>G (p.Ser648Ala)
|
|
|
NM_000527.5(LDLR):c.1946C>T (p.Pro649Leu)
|
rs879255081
|
|
NM_000527.5(LDLR):c.1952A>T (p.Asp651Val)
|
rs563382937
|
|
NM_000527.5(LDLR):c.1955T>C (p.Met652Thr)
|
rs875989936
|
|
NM_000527.5(LDLR):c.1957G>T (p.Val653Phe)
|
rs879255085
|
|
NM_000527.5(LDLR):c.1958T>G (p.Val653Gly)
|
rs879255086
|
|
NM_000527.5(LDLR):c.1960C>T (p.Leu654Phe)
|
rs879255087
|
|
NM_000527.5(LDLR):c.1968C>G (p.His656Gln)
|
rs879255091
|
|
NM_000527.5(LDLR):c.1981C>G (p.Pro661Ala)
|
rs1182317785
|
|
NM_000527.5(LDLR):c.1982C>T (p.Pro661Leu)
|
|
|
NM_000527.5(LDLR):c.2023G>A (p.Gly675Ser)
|
rs770744861
|
|
NM_000527.5(LDLR):c.2026G>A (p.Gly676Ser)
|
rs745753810
|
|
NM_000527.5(LDLR):c.2041T>A (p.Cys681Ser)
|
|
|
NM_000527.5(LDLR):c.2094C>G (p.Cys698Trp)
|
rs879255137
|
|
NM_000527.5(LDLR):c.2096C>T (p.Pro699Leu)
|
|
|
NM_000527.5(LDLR):c.2099A>G (p.Asp700Gly)
|
rs879255139
|
|
NM_000527.5(LDLR):c.2100C>G (p.Asp700Glu)
|
rs759858813
|
|
NM_000527.5(LDLR):c.2113G>T (p.Ala705Ser)
|
rs193922570
|
|
NM_000527.5(LDLR):c.2119G>T (p.Asp707Tyr)
|
rs879255142
|
|
NM_000527.5(LDLR):c.2125A>G (p.Arg709Gly)
|
rs1057519684
|
|
NM_000527.5(LDLR):c.2215C>T (p.Gln739Ter)
|
rs370018159
|
|
NM_000527.5(LDLR):c.2231G>A (p.Arg744Gln)
|
|
|
NM_000527.5(LDLR):c.2260G>T (p.Gly754Trp)
|
rs559239150
|
|
NM_000527.5(LDLR):c.226G>T (p.Gly76Trp)
|
rs574337291
|
|
NM_000527.5(LDLR):c.2312-3C>A
|
|
|
NM_000527.5(LDLR):c.2389+4A>G
|
rs758493597
|
|
NM_000527.5(LDLR):c.2389G>A (p.Val797Met)
|
|
|
NM_000527.5(LDLR):c.2389G>T (p.Val797Leu)
|
rs750518671
|
|
NM_000527.5(LDLR):c.2392CTC[1] (p.Leu799del)
|
rs879255195
|
|
NM_000527.5(LDLR):c.2397_2405del (p.Val800_Leu802del)
|
|
|
NM_000527.5(LDLR):c.2397_2412del (p.Val800fs)
|
rs879255197
|
|
NM_000527.5(LDLR):c.2407_2424del (p.Cys803_Leu808del)
|
rs879255201
|
|
NM_000527.5(LDLR):c.240C>A (p.Asn80Lys)
|
rs879254444
|
|
NM_000527.5(LDLR):c.2416dup (p.Val806fs)
|
|
|
NM_000527.5(LDLR):c.241C>A (p.Arg81Ser)
|
rs730882078
|
|
NM_000527.5(LDLR):c.241C>T (p.Arg81Cys)
|
|
|
NM_000527.5(LDLR):c.2441G>A (p.Arg814Gln)
|
|
|
NM_000527.5(LDLR):c.2479G>A (p.Val827Ile)
|
rs137853964
|
|
NM_000527.5(LDLR):c.2479G>T (p.Val827Phe)
|
rs137853964
|
|
NM_000527.5(LDLR):c.251C>G (p.Pro84Arg)
|
rs875989892
|
|
NM_000527.5(LDLR):c.251C>T (p.Pro84Leu)
|
rs875989892
|
|
NM_000527.5(LDLR):c.2547+5G>A
|
rs879255226
|
|
NM_000527.5(LDLR):c.257_265del (p.Phe86_Arg88del)
|
rs879254451
|
|
NM_000527.5(LDLR):c.283T>G (p.Cys95Gly)
|
rs879254456
|
|
NM_000527.5(LDLR):c.284G>A (p.Cys95Tyr)
|
rs879254457
|
|
NM_000527.5(LDLR):c.292G>C (p.Gly98Arg)
|
rs750474121
|
|
NM_000527.5(LDLR):c.298G>A (p.Asp100Asn)
|
rs879254459
|
|
NM_000527.5(LDLR):c.2T>C (p.Met1Thr)
|
rs1555800701
|
|
NM_000527.5(LDLR):c.311G>T (p.Cys104Phe)
|
rs875989895
|
|
NM_000527.5(LDLR):c.313+1G>C
|
rs112029328
|
|
NM_000527.5(LDLR):c.313+5G>A
|
|
|
NM_000527.5(LDLR):c.313+6T>C
|
rs879254468
|
|
NM_000527.5(LDLR):c.355G>A (p.Gly119Arg)
|
rs869320648
|
|
NM_000527.5(LDLR):c.367T>C (p.Ser123Pro)
|
rs879254495
|
|
NM_000527.5(LDLR):c.370C>T (p.Arg124Trp)
|
rs879254498
|
|
NM_000527.5(LDLR):c.397G>A (p.Asp133Asn)
|
rs879254513
|
|
NM_000527.5(LDLR):c.44T>A (p.Leu15His)
|
rs879254390
|
|
NM_000527.5(LDLR):c.44T>C (p.Leu15Pro)
|
rs879254390
|
|
NM_000527.5(LDLR):c.479G>A (p.Cys160Tyr)
|
|
|
NM_000527.5(LDLR):c.47T>C (p.Leu16Pro)
|
rs879254391
|
|
NM_000527.5(LDLR):c.482T>A (p.Ile161Asn)
|
rs754933794
|
|
NM_000527.5(LDLR):c.491T>C (p.Leu164Pro)
|
rs879254544
|
|
NM_000527.5(LDLR):c.510C>A (p.Asp170Glu)
|
rs1060499931
|
|
NM_000527.5(LDLR):c.542C>G (p.Pro181Arg)
|
rs557344672
|
|
NM_000527.5(LDLR):c.590G>T (p.Cys197Phe)
|
rs376459828
|
|
NM_000527.5(LDLR):c.613C>G (p.Leu205Val)
|
rs1131692196
|
|
NM_000527.5(LDLR):c.629T>A (p.Ile210Asn)
|
rs879254601
|
|
NM_000527.5(LDLR):c.656_661del (p.Gly219_Pro220del)
|
rs879254617
|
|
NM_000527.5(LDLR):c.672C>A (p.Asp224Glu)
|
rs1057519658
|
|
NM_000527.5(LDLR):c.727T>C (p.Cys243Arg)
|
rs879254659
|
|
NM_000527.5(LDLR):c.737G>A (p.Gly246Glu)
|
rs879254661
|
|
NM_000527.5(LDLR):c.757C>T (p.Arg253Trp)
|
|
|
NM_000527.5(LDLR):c.758G>C (p.Arg253Pro)
|
rs139507589
|
|
NM_000527.5(LDLR):c.768C>A (p.Asp256Glu)
|
rs879254671
|
|
NM_000527.5(LDLR):c.799G>A (p.Glu267Lys)
|
rs879254679
|
|
NM_000527.5(LDLR):c.800A>C (p.Glu267Ala)
|
rs879254680
|
|
NM_000527.5(LDLR):c.806G>A (p.Gly269Asp)
|
|
|
NM_000527.5(LDLR):c.826T>C (p.Cys276Arg)
|
rs879254692
|
|
NM_000527.5(LDLR):c.858C>A (p.Ser286Arg)
|
rs140241383
|
|
NM_000527.5(LDLR):c.865T>C (p.Cys289Arg)
|
rs879254697
|
|
NM_000527.5(LDLR):c.887G>A (p.Cys296Tyr)
|
rs879254707
|
|
NM_000527.5(LDLR):c.887G>C (p.Cys296Ser)
|
rs879254707
|
|
NM_000527.5(LDLR):c.895G>A (p.Ala299Thr)
|
rs879254711
|
|
NM_000527.5(LDLR):c.895G>T (p.Ala299Ser)
|
rs879254711
|
|
NM_000527.5(LDLR):c.905G>A (p.Cys302Tyr)
|
rs879254715
|
|
NM_000527.5(LDLR):c.910G>C (p.Asp304His)
|
rs121908030
|
|
NM_000527.5(LDLR):c.914G>C (p.Trp305Ser)
|
rs879254717
|
|
NM_000527.5(LDLR):c.915G>C (p.Trp305Cys)
|
rs757252110
|
|
NM_000527.5(LDLR):c.919G>A (p.Asp307Asn)
|
rs879254719
|
|
NM_000527.5(LDLR):c.932A>G (p.Lys311Arg)
|
rs761765254
|
|
NM_000527.5(LDLR):c.937T>C (p.Cys313Arg)
|
rs879254728
|
|
NM_000527.5(LDLR):c.939C>G (p.Cys313Trp)
|
rs13306512
|
|
NM_000527.5(LDLR):c.941-12G>A
|
rs879254734
|
|
NM_000527.5(LDLR):c.941-4G>A
|
|
|
NM_000527.5(LDLR):c.965A>T (p.Asn322Ile)
|
rs879254742
|
|
NM_000527.5(LDLR):c.980A>C (p.His327Pro)
|
rs2077361686
|
|
NM_000527.5(LDLR):c.981C>A (p.His327Gln)
|
rs1060499933
|
|
NR_163945.1(LDLR-AS1):n.265_266delinsAGGAGTTTGCAGAA
|
rs879254365
|
|
c.(190+1_191-1)_(694+1_695-1)dup
|
|
|
c.(313+1_314-1)_(1186+1_1187-1)dup
|
|
|