NM_000527.5(LDLR):c.910G>A (p.Asp304Asn)
|
rs121908030
|
0.00006
|
NM_000527.5(LDLR):c.590G>A (p.Cys197Tyr)
|
rs376459828
|
0.00004
|
NM_000527.5(LDLR):c.798T>A (p.Asp266Glu)
|
rs139043155
|
0.00004
|
NM_000527.5(LDLR):c.1747C>T (p.His583Tyr)
|
rs730882109
|
0.00003
|
NM_000527.5(LDLR):c.682G>T (p.Glu228Ter)
|
rs121908029
|
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_000527.5(LDLR):c.268G>A (p.Asp90Asn)
|
rs749038326
|
0.00002
|
NM_000527.5(LDLR):c.1055G>A (p.Cys352Tyr)
|
rs193922566
|
0.00001
|
NM_000527.5(LDLR):c.1061-1G>C
|
rs879254774
|
0.00001
|
NM_000527.5(LDLR):c.1222G>A (p.Glu408Lys)
|
rs137943601
|
0.00001
|
NM_000527.5(LDLR):c.1329G>C (p.Trp443Cys)
|
rs879254867
|
0.00001
|
NM_000527.5(LDLR):c.1576C>T (p.Pro526Ser)
|
rs730882106
|
0.00001
|
NM_000527.5(LDLR):c.1730G>C (p.Trp577Ser)
|
rs138947766
|
0.00001
|
NM_000527.5(LDLR):c.1846-1G>A
|
rs879255051
|
0.00001
|
NM_000527.5(LDLR):c.2029T>C (p.Cys677Arg)
|
rs775092314
|
0.00001
|
NM_000527.5(LDLR):c.2061dup (p.Asn688fs)
|
rs137853965
|
0.00001
|
NM_000527.5(LDLR):c.2113G>C (p.Ala705Pro)
|
rs193922570
|
0.00001
|
NM_000527.5(LDLR):c.2140G>T (p.Glu714Ter)
|
rs869320652
|
0.00001
|
NM_000527.5(LDLR):c.2167G>T (p.Glu723Ter)
|
rs1057516127
|
0.00001
|
NM_000527.5(LDLR):c.2230C>T (p.Arg744Ter)
|
rs200793488
|
0.00001
|
NM_000527.5(LDLR):c.259T>G (p.Trp87Gly)
|
rs121908025
|
0.00001
|
NM_000527.5(LDLR):c.299A>T (p.Asp100Val)
|
rs879254460
|
0.00001
|
NM_000527.5(LDLR):c.301G>A (p.Glu101Lys)
|
rs144172724
|
0.00001
|
NM_000527.5(LDLR):c.313+2T>C
|
rs793888517
|
0.00001
|
NM_000527.5(LDLR):c.314-2A>C
|
rs879254470
|
0.00001
|
NM_000527.5(LDLR):c.325T>C (p.Cys109Arg)
|
rs140807148
|
0.00001
|
NM_000527.5(LDLR):c.429C>A (p.Cys143Ter)
|
rs199774121
|
0.00001
|
NM_000527.5(LDLR):c.523G>A (p.Asp175Asn)
|
rs121908033
|
0.00001
|
NM_000527.5(LDLR):c.581del (p.Ser194fs)
|
rs2077276693
|
0.00001
|
NM_000527.5(LDLR):c.631C>T (p.His211Tyr)
|
rs771917370
|
0.00001
|
NM_000527.5(LDLR):c.820del (p.Thr274fs)
|
rs751122998
|
0.00001
|
NM_000527.4(LDLR):c.-136C>T
|
rs879254374
|
|
NM_000527.4(LDLR):c.1706_1715delATCTCCTCAG
|
|
|
NM_000527.4(LDLR):c.313+1G>A
|
|
|
NM_000527.4(LDLR):c.694+2T>C
|
rs200238879
|
|
NM_000527.5(LDLR):c.100T>G (p.Cys34Gly)
|
rs879254405
|
|
NM_000527.5(LDLR):c.1012T>G (p.Cys338Gly)
|
rs879254753
|
|
NM_000527.5(LDLR):c.1013G>A (p.Cys338Tyr)
|
|
|
NM_000527.5(LDLR):c.1019G>A (p.Cys340Tyr)
|
rs755757866
|
|
NM_000527.5(LDLR):c.1027G>A (p.Gly343Ser)
|
|
|
NM_000527.5(LDLR):c.1033C>T (p.Gln345Ter)
|
|
|
NM_000527.5(LDLR):c.1046dup (p.Arg350fs)
|
rs1555804545
|
|
NM_000527.5(LDLR):c.1048C>T (p.Arg350Ter)
|
|
|
NM_000527.5(LDLR):c.1056C>G (p.Cys352Trp)
|
rs13306515
|
|
NM_000527.5(LDLR):c.1056_1060+3del
|
rs879254770
|
|
NM_000527.5(LDLR):c.1090T>C (p.Cys364Arg)
|
|
|
NM_000527.5(LDLR):c.1102T>C (p.Cys368Arg)
|
rs879254791
|
|
NM_000527.5(LDLR):c.1103G>A (p.Cys368Tyr)
|
|
|
NM_000527.5(LDLR):c.1104C>A (p.Cys368Ter)
|
rs113669610
|
|
NM_000527.5(LDLR):c.1118G>A (p.Gly373Asp)
|
|
|
NM_000527.5(LDLR):c.1118_1121dup (p.Tyr375fs)
|
rs875989916
|
|
NM_000527.5(LDLR):c.1124A>G (p.Tyr375Cys)
|
rs879254800
|
|
NM_000527.5(LDLR):c.1129T>C (p.Cys377Arg)
|
|
|
NM_000527.5(LDLR):c.1130G>A (p.Cys377Tyr)
|
rs879254801
|
|
NM_000527.5(LDLR):c.1130G>C (p.Cys377Ser)
|
rs879254801
|
|
NM_000527.5(LDLR):c.1130G>T (p.Cys377Phe)
|
rs879254801
|
|
NM_000527.5(LDLR):c.1135T>C (p.Cys379Arg)
|
|
|
NM_000527.5(LDLR):c.1164del (p.His388fs)
|
|
|
NM_000527.5(LDLR):c.1169del (p.Lys390fs)
|
|
|
NM_000527.5(LDLR):c.1186+1G>T
|
rs730880131
|
|
NM_000527.5(LDLR):c.1187-10G>A
|
|
|
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.11G>A (p.Trp4Ter)
|
rs201016593
|
|
NM_000527.5(LDLR):c.1202T>A (p.Leu401His)
|
rs121908038
|
|
NM_000527.5(LDLR):c.1216C>A (p.Arg406=)
|
rs121908043
|
|
NM_000527.5(LDLR):c.1216C>T (p.Arg406Trp)
|
|
|
NM_000527.5(LDLR):c.1244_1245del (p.Asp415fs)
|
|
|
NM_000527.5(LDLR):c.1246C>T (p.Arg416Trp)
|
|
|
NM_000527.5(LDLR):c.1255dup (p.Tyr419fs)
|
rs2077408827
|
|
NM_000527.5(LDLR):c.1257C>G (p.Tyr419Ter)
|
rs774439908
|
|
NM_000527.5(LDLR):c.1268T>C (p.Ile423Thr)
|
rs879254849
|
|
NM_000527.5(LDLR):c.1277T>C (p.Leu426Pro)
|
rs879254851
|
|
NM_000527.5(LDLR):c.1284del (p.Asn428fs)
|
rs2077409930
|
|
NM_000527.5(LDLR):c.1285G>A (p.Val429Met)
|
|
|
NM_000527.5(LDLR):c.1291G>A (p.Ala431Thr)
|
|
|
NM_000527.5(LDLR):c.1309_1310insTCGCTCTGGACACGTAGGTGG (p.Ala437delinsValAlaLeuAspThrTer)
|
rs2077410686
|
|
NM_000527.5(LDLR):c.131G>A (p.Trp44Ter)
|
rs267607213
|
|
NM_000527.5(LDLR):c.1322T>C (p.Ile441Thr)
|
rs879254862
|
|
NM_000527.5(LDLR):c.1327T>C (p.Trp443Arg)
|
rs773566855
|
|
NM_000527.5(LDLR):c.1329G>A (p.Trp443Ter)
|
rs879254867
|
|
NM_000527.5(LDLR):c.132G>A (p.Trp44Ter)
|
rs1555802287
|
|
NM_000527.5(LDLR):c.1342C>T (p.Gln448Ter)
|
|
|
NM_000527.5(LDLR):c.1358+2T>A
|
rs193922567
|
|
NM_000527.5(LDLR):c.1361_1364del (p.Thr454fs)
|
|
|
NM_000527.5(LDLR):c.136_142del (p.Cys46fs)
|
|
|
NM_000527.5(LDLR):c.1413_1414delinsGGACAT (p.Gln474fs)
|
rs1555805360
|
|
NM_000527.5(LDLR):c.1428dup (p.Asp477fs)
|
rs876657697
|
|
NM_000527.5(LDLR):c.1447T>C (p.Trp483Arg)
|
rs879254905
|
|
NM_000527.5(LDLR):c.1448G>A (p.Trp483Ter)
|
rs875989921
|
|
NM_000527.5(LDLR):c.1468T>C (p.Trp490Arg)
|
rs730880130
|
|
NM_000527.5(LDLR):c.1474G>A (p.Asp492Asn)
|
|
|
NM_000527.5(LDLR):c.1478_1479del (p.Ser493fs)
|
rs869025453
|
|
NM_000527.5(LDLR):c.1567G>A (p.Val523Met)
|
|
|
NM_000527.5(LDLR):c.1586+1G>A
|
|
|
NM_000527.5(LDLR):c.1587-1G>A
|
rs879254948
|
|
NM_000527.5(LDLR):c.1597T>A (p.Trp533Arg)
|
|
|
NM_000527.5(LDLR):c.1613_1622del (p.Thr538fs)
|
|
|
NM_000527.5(LDLR):c.1618G>A (p.Ala540Thr)
|
|
|
NM_000527.5(LDLR):c.1646G>A (p.Gly549Asp)
|
|
|
NM_000527.5(LDLR):c.1686G>A (p.Trp562Ter)
|
rs879254985
|
|
NM_000527.5(LDLR):c.1694G>T (p.Gly565Val)
|
rs28942082
|
|
NM_000527.5(LDLR):c.1705+1G>A
|
rs875989926
|
|
NM_000527.5(LDLR):c.1706-1G>T
|
rs879254996
|
|
NM_000527.5(LDLR):c.1729T>C (p.Trp577Arg)
|
rs879255000
|
|
NM_000527.5(LDLR):c.1730G>A (p.Trp577Ter)
|
rs138947766
|
|
NM_000527.5(LDLR):c.1735G>A (p.Asp579Asn)
|
rs875989929
|
|
NM_000527.5(LDLR):c.1745T>C (p.Leu582Pro)
|
rs875989930
|
|
NM_000527.5(LDLR):c.1775G>A (p.Gly592Glu)
|
|
|
NM_000527.5(LDLR):c.1783C>T (p.Arg595Trp)
|
|
|
NM_000527.5(LDLR):c.1784_1790del (p.Arg595fs)
|
rs879255020
|
|
NM_000527.5(LDLR):c.1808dup (p.Arg604fs)
|
rs1555806526
|
|
NM_000527.5(LDLR):c.1810_1811del (p.Arg604fs)
|
|
|
NM_000527.5(LDLR):c.1844A>T (p.Glu615Val)
|
rs879255046
|
|
NM_000527.5(LDLR):c.1845+1G>A
|
rs879255049
|
|
NM_000527.5(LDLR):c.1845+2T>C
|
|
|
NM_000527.5(LDLR):c.1860G>A (p.Trp620Ter)
|
rs875989933
|
|
NM_000527.5(LDLR):c.1865A>G (p.Asp622Gly)
|
rs879255060
|
|
NM_000527.5(LDLR):c.1867dup (p.Ile623fs)
|
rs1555807206
|
|
NM_000527.5(LDLR):c.1868TCA[1] (p.Ile624del)
|
|
|
NM_000527.5(LDLR):c.1876G>T (p.Glu626Ter)
|
|
|
NM_000527.5(LDLR):c.1878del (p.Ala627fs)
|
rs1057516134
|
|
NM_000527.5(LDLR):c.1879G>A (p.Ala627Thr)
|
rs879255066
|
|
NM_000527.5(LDLR):c.1886del (p.Phe629fs)
|
rs879255068
|
|
NM_000527.5(LDLR):c.1897C>T (p.Arg633Cys)
|
|
|
NM_000527.5(LDLR):c.190+1G>A
|
rs879254428
|
|
NM_000527.5(LDLR):c.191-1G>A
|
rs879254433
|
|
NM_000527.5(LDLR):c.191-2A>G
|
rs544203837
|
|
NM_000527.5(LDLR):c.1911del (p.Asp638fs)
|
rs867272973
|
|
NM_000527.5(LDLR):c.1922T>A (p.Leu641Ter)
|
rs2077524952
|
|
NM_000527.5(LDLR):c.193_202delinsGGACTTCA (p.Ser65fs)
|
|
|
NM_000527.5(LDLR):c.1955dup (p.Met652fs)
|
|
|
NM_000527.5(LDLR):c.195_196insAT (p.Val66fs)
|
rs879254435
|
|
NM_000527.5(LDLR):c.1988-50_2007del
|
|
|
NM_000527.5(LDLR):c.1998G>A (p.Trp666Ter)
|
rs752935814
|
|
NM_000527.5(LDLR):c.1A>G (p.Met1Val)
|
rs879254382
|
|
NM_000527.5(LDLR):c.2000G>A (p.Cys667Tyr)
|
rs28942083
|
|
NM_000527.5(LDLR):c.2001T>A (p.Cys667Ter)
|
rs879255109
|
|
NM_000527.5(LDLR):c.2027del (p.Gly676fs)
|
rs875989937
|
|
NM_000527.5(LDLR):c.2037T>A (p.Tyr679Ter)
|
rs760436036
|
|
NM_000527.5(LDLR):c.2043C>A (p.Cys681Ter)
|
|
|
NM_000527.5(LDLR):c.2054C>T (p.Pro685Leu)
|
|
|
NM_000527.5(LDLR):c.2055_2068del (p.Gln686fs)
|
rs2077532372
|
|
NM_000527.5(LDLR):c.2056C>T (p.Gln686Ter)
|
rs879255126
|
|
NM_000527.5(LDLR):c.2068del (p.His690fs)
|
rs879255130
|
|
NM_000527.5(LDLR):c.2072C>A (p.Ser691Ter)
|
rs369943481
|
|
NM_000527.5(LDLR):c.2094C>G (p.Cys698Trp)
|
rs879255137
|
|
NM_000527.5(LDLR):c.2099_2102dup (p.Met702fs)
|
|
|
NM_000527.5(LDLR):c.2108_2114dup (p.Arg706fs)
|
rs879255141
|
|
NM_000527.5(LDLR):c.2140+1G>A
|
rs145787161
|
|
NM_000527.5(LDLR):c.2140+1G>T
|
rs145787161
|
|
NM_000527.5(LDLR):c.214del (p.Asp72fs)
|
rs879254438
|
|
NM_000527.5(LDLR):c.2167del (p.Glu723fs)
|
rs879255153
|
|
NM_000527.5(LDLR):c.2180_2184dup (p.Leu729fs)
|
rs1555808044
|
|
NM_000527.5(LDLR):c.2187_2197del (p.Lys730fs)
|
rs879255159
|
|
NM_000527.5(LDLR):c.2207dup (p.Arg737fs)
|
rs879255164
|
|
NM_000527.5(LDLR):c.2215C>T (p.Gln739Ter)
|
rs370018159
|
|
NM_000527.5(LDLR):c.2233_2291del (p.Pro745fs)
|
rs1555808094
|
|
NM_000527.5(LDLR):c.2270del (p.Pro757fs)
|
rs1131692223
|
|
NM_000527.5(LDLR):c.2271del (p.Leu759fs)
|
|
|
NM_000527.5(LDLR):c.2274del (p.Leu759fs)
|
rs1555808139
|
|
NM_000527.5(LDLR):c.2292del (p.Ile764fs)
|
rs875989941
|
|
NM_000527.5(LDLR):c.2311+1G>A
|
rs879255175
|
|
NM_000527.5(LDLR):c.2311+1G>T
|
|
|
NM_000527.5(LDLR):c.2312-3C>A
|
|
|
NM_000527.5(LDLR):c.2340del (p.Asn780fs)
|
|
|
NM_000527.5(LDLR):c.2389+1G>T
|
rs879255186
|
|
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.2390-2A>G
|
rs767790696
|
|
NM_000527.5(LDLR):c.23T>A (p.Leu8Ter)
|
|
|
NM_000527.5(LDLR):c.2416dup (p.Val806fs)
|
|
|
NM_000527.5(LDLR):c.2431A>T (p.Lys811Ter)
|
|
|
NM_000527.5(LDLR):c.2438G>A (p.Trp813Ter)
|
rs879255212
|
|
NM_000527.5(LDLR):c.2475C>G (p.Asn825Lys)
|
rs374045590
|
|
NM_000527.5(LDLR):c.2478del (p.Val827fs)
|
rs747344293
|
|
NM_000527.5(LDLR):c.249delinsGG (p.Ile83fs)
|
rs1600704961
|
|
NM_000527.5(LDLR):c.2502dup (p.Glu835Ter)
|
|
|
NM_000527.5(LDLR):c.2547+1G>T
|
|
|
NM_000527.5(LDLR):c.267C>G (p.Cys89Trp)
|
rs777640882
|
|
NM_000527.5(LDLR):c.269A>C (p.Asp90Ala)
|
rs771019366
|
|
NM_000527.5(LDLR):c.269A>G (p.Asp90Gly)
|
rs771019366
|
|
NM_000527.5(LDLR):c.270T>A (p.Asp90Glu)
|
rs372828849
|
|
NM_000527.5(LDLR):c.283T>C (p.Cys95Arg)
|
rs879254456
|
|
NM_000527.5(LDLR):c.284G>T (p.Cys95Phe)
|
rs879254457
|
|
NM_000527.5(LDLR):c.296C>G (p.Ser99Ter)
|
rs377271627
|
|
NM_000527.5(LDLR):c.304C>T (p.Gln102Ter)
|
rs563390335
|
|
NM_000527.5(LDLR):c.313+1G>C
|
rs112029328
|
|
NM_000527.5(LDLR):c.313+2dup
|
rs875989897
|
|
NM_000527.5(LDLR):c.314-1G>A
|
rs879254471
|
|
NM_000527.5(LDLR):c.320del (p.Lys107fs)
|
|
|
NM_000527.5(LDLR):c.334_349dup (p.His117fs)
|
|
|
NM_000527.5(LDLR):c.337G>T (p.Glu113Ter)
|
|
|
NM_000527.5(LDLR):c.337dup (p.Glu113fs)
|
rs752191968
|
|
NM_000527.5(LDLR):c.373C>T (p.Gln125Ter)
|
rs875989899
|
|
NM_000527.5(LDLR):c.378del (p.Phe126fs)
|
rs1555803213
|
|
NM_000527.5(LDLR):c.400T>A (p.Cys134Ser)
|
|
|
NM_000527.5(LDLR):c.400T>C (p.Cys134Arg)
|
rs875989900
|
|
NM_000527.5(LDLR):c.401G>A (p.Cys134Tyr)
|
rs879254514
|
|
NM_000527.5(LDLR):c.415_416del (p.Asp139fs)
|
|
|
NM_000527.5(LDLR):c.418G>A (p.Glu140Lys)
|
|
|
NM_000527.5(LDLR):c.41dup (p.Leu14fs)
|
rs879254388
|
|
NM_000527.5(LDLR):c.420G>C (p.Glu140Asp)
|
rs879254520
|
|
NM_000527.5(LDLR):c.427T>A (p.Cys143Ser)
|
rs875989901
|
|
NM_000527.5(LDLR):c.428G>A (p.Cys143Tyr)
|
rs879254522
|
|
NM_000527.5(LDLR):c.443G>A (p.Cys148Tyr)
|
rs879254526
|
|
NM_000527.5(LDLR):c.460C>T (p.Gln154Ter)
|
rs879254534
|
|
NM_000527.5(LDLR):c.463T>G (p.Cys155Gly)
|
rs879254535
|
|
NM_000527.5(LDLR):c.467del (p.Asn156fs)
|
rs1057516135
|
|
NM_000527.5(LDLR):c.478T>C (p.Cys160Arg)
|
rs879254540
|
|
NM_000527.5(LDLR):c.478T>G (p.Cys160Gly)
|
rs879254540
|
|
NM_000527.5(LDLR):c.479G>A (p.Cys160Tyr)
|
|
|
NM_000527.5(LDLR):c.501C>A (p.Cys167Ter)
|
|
|
NM_000527.5(LDLR):c.502G>C (p.Asp168His)
|
rs200727689
|
|
NM_000527.5(LDLR):c.513del (p.Asp172fs)
|
rs879254552
|
|
NM_000527.5(LDLR):c.513dup (p.Asp172fs)
|
rs879254552
|
|
NM_000527.5(LDLR):c.517T>C (p.Cys173Arg)
|
rs879254558
|
|
NM_000527.5(LDLR):c.518del (p.Cys173fs)
|
rs879254559
|
|
NM_000527.5(LDLR):c.519C>G (p.Cys173Trp)
|
rs769318035
|
|
NM_000527.5(LDLR):c.520G>T (p.Glu174Ter)
|
rs777326720
|
|
NM_000527.5(LDLR):c.530C>T (p.Ser177Leu)
|
|
|
NM_000527.5(LDLR):c.551G>A (p.Cys184Tyr)
|
|
|
NM_000527.5(LDLR):c.557del (p.Gly186fs)
|
rs879254573
|
|
NM_000527.5(LDLR):c.564C>A (p.Tyr188Ter)
|
rs121908034
|
|
NM_000527.5(LDLR):c.564C>G (p.Tyr188Ter)
|
rs121908034
|
|
NM_000527.5(LDLR):c.589T>C (p.Cys197Arg)
|
rs730882085
|
|
NM_000527.5(LDLR):c.589T>G (p.Cys197Gly)
|
rs730882085
|
|
NM_000527.5(LDLR):c.590G>T (p.Cys197Phe)
|
rs376459828
|
|
NM_000527.5(LDLR):c.591C>G (p.Cys197Trp)
|
rs879254584
|
|
NM_000527.5(LDLR):c.610T>C (p.Cys204Arg)
|
rs1057519655
|
|
NM_000527.5(LDLR):c.621C>T (p.Gly207=)
|
rs121908044
|
|
NM_000527.5(LDLR):c.642G>A (p.Trp214Ter)
|
rs879254606
|
|
NM_000527.5(LDLR):c.648_665del (p.Asp217_Cys222del)
|
|
|
NM_000527.5(LDLR):c.651TGG[1] (p.Gly219del)
|
rs121908027
|
|
NM_000527.5(LDLR):c.653del (p.Gly218fs)
|
rs137853966
|
|
NM_000527.5(LDLR):c.660del (p.Asp221fs)
|
rs875989905
|
|
NM_000527.5(LDLR):c.661delinsATCAC (p.Asp221fs)
|
rs2077280444
|
|
NM_000527.5(LDLR):c.662A>G (p.Asp221Gly)
|
|
|
NM_000527.5(LDLR):c.663_683dup (p.Asp221_Asp227dup)
|
rs879254620
|
|
NM_000527.5(LDLR):c.665G>A (p.Cys222Tyr)
|
rs730882086
|
|
NM_000527.5(LDLR):c.670G>A (p.Asp224Asn)
|
rs387906303
|
|
NM_000527.5(LDLR):c.671A>T (p.Asp224Val)
|
rs879254630
|
|
NM_000527.5(LDLR):c.678del (p.Asp227fs)
|
|
|
NM_000527.5(LDLR):c.68-1G>C
|
rs879254397
|
|
NM_000527.5(LDLR):c.68-2A>T
|
rs879254396
|
|
NM_000527.5(LDLR):c.680_681del (p.Asp227fs)
|
rs387906305
|
|
NM_000527.5(LDLR):c.680_682delinsCGGTATGGACTGCA (p.Asp227fs)
|
rs879254637
|
|
NM_000527.5(LDLR):c.681C>A (p.Asp227Glu)
|
rs121908028
|
|
NM_000527.5(LDLR):c.681C>G (p.Asp227Glu)
|
rs121908028
|
|
NM_000527.5(LDLR):c.682G>A (p.Glu228Lys)
|
|
|
NM_000527.5(LDLR):c.682G>C (p.Glu228Gln)
|
|
|
NM_000527.5(LDLR):c.691T>C (p.Cys231Arg)
|
rs746091400
|
|
NM_000527.5(LDLR):c.691T>G (p.Cys231Gly)
|
rs746091400
|
|
NM_000527.5(LDLR):c.693C>A (p.Cys231Ter)
|
|
|
NM_000527.5(LDLR):c.693C>G (p.Cys231Trp)
|
rs121908035
|
|
NM_000527.5(LDLR):c.694+1G>T
|
rs879254646
|
|
NM_000527.5(LDLR):c.695-1G>A
|
rs879254652
|
|
NM_000527.5(LDLR):c.695-1G>C
|
|
|
NM_000527.5(LDLR):c.6del (p.Trp4fs)
|
rs875989888
|
|
NM_000527.5(LDLR):c.761A>C (p.Gln254Pro)
|
rs879254667
|
|
NM_000527.5(LDLR):c.779_782del (p.Asp260fs)
|
rs1600713742
|
|
NM_000527.5(LDLR):c.796G>C (p.Asp266His)
|
|
|
NM_000527.5(LDLR):c.796G>T (p.Asp266Tyr)
|
rs875989907
|
|
NM_000527.5(LDLR):c.818-1G>A
|
rs879254688
|
|
NM_000527.5(LDLR):c.818-2A>G
|
|
|
NM_000527.5(LDLR):c.81C>A (p.Cys27Ter)
|
rs2228671
|
|
NM_000527.5(LDLR):c.81C>G (p.Cys27Trp)
|
|
|
NM_000527.5(LDLR):c.825_826del (p.Cys276fs)
|
rs879254691
|
|
NM_000527.5(LDLR):c.858C>A (p.Ser286Arg)
|
rs140241383
|
|
NM_000527.5(LDLR):c.881_882del (p.Lys294fs)
|
rs879254704
|
|
NM_000527.5(LDLR):c.912C>G (p.Asp304Glu)
|
rs875989909
|
|
NM_000527.5(LDLR):c.917C>T (p.Ser306Leu)
|
rs11547917
|
|
NM_000527.5(LDLR):c.91G>T (p.Glu31Ter)
|
rs776421777
|
|
NM_000527.5(LDLR):c.938_939delinsAT (p.Cys313Tyr)
|
rs875989910
|
|
NM_000527.5(LDLR):c.939C>A (p.Cys313Ter)
|
rs13306512
|
|
NM_000527.5(LDLR):c.953G>T (p.Cys318Phe)
|
|
|
NM_000527.5(LDLR):c.966del (p.Asn322fs)
|
rs2077361078
|
|
NM_000527.5(LDLR):c.974G>A (p.Cys325Tyr)
|
rs879254746
|
|
NM_000527.5(LDLR):c.979del (p.His327fs)
|
rs2077361581
|
|
NM_000527.5(LDLR):c.97C>T (p.Gln33Ter)
|
|
|