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.2098G>A (p.Asp700Asn)
|
rs375009082
|
0.00006
|
NM_000527.5(LDLR):c.344G>A (p.Arg115His)
|
rs201102461
|
0.00006
|
NM_000527.5(LDLR):c.910G>A (p.Asp304Asn)
|
rs121908030
|
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.232C>T (p.Arg78Cys)
|
rs370860696
|
0.00004
|
NM_000527.5(LDLR):c.590G>A (p.Cys197Tyr)
|
rs376459828
|
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_000527.5(LDLR):c.1061A>T (p.Asp354Val)
|
rs755449669
|
0.00003
|
NM_000527.5(LDLR):c.1247G>A (p.Arg416Gln)
|
rs773658037
|
0.00003
|
NM_000527.5(LDLR):c.1474G>C (p.Asp492His)
|
rs373646964
|
0.00003
|
NM_000527.5(LDLR):c.1747C>T (p.His583Tyr)
|
rs730882109
|
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.514G>A (p.Asp172Asn)
|
rs879254554
|
0.00003
|
NM_000527.5(LDLR):c.682G>T (p.Glu228Ter)
|
rs121908029
|
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_000527.5(LDLR):c.1097A>G (p.Gln366Arg)
|
rs746982741
|
0.00002
|
NM_000527.5(LDLR):c.1166C>T (p.Thr389Met)
|
rs149227308
|
0.00002
|
NM_000527.5(LDLR):c.1720C>T (p.Arg574Cys)
|
rs185098634
|
0.00002
|
NM_000527.5(LDLR):c.1774G>A (p.Gly592Arg)
|
rs763147599
|
0.00002
|
NM_000527.5(LDLR):c.2050G>A (p.Ala684Thr)
|
rs774730452
|
0.00002
|
NM_000527.5(LDLR):c.268G>A (p.Asp90Asn)
|
rs749038326
|
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.1020C>G (p.Cys340Trp)
|
rs777524402
|
0.00001
|
NM_000527.5(LDLR):c.1055G>A (p.Cys352Tyr)
|
rs193922566
|
0.00001
|
NM_000527.5(LDLR):c.1060+2T>G
|
rs774069731
|
0.00001
|
NM_000527.5(LDLR):c.1061-1G>C
|
rs879254774
|
0.00001
|
NM_000527.5(LDLR):c.1133A>C (p.Gln378Pro)
|
rs730882098
|
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.1222G>A (p.Glu408Lys)
|
rs137943601
|
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.1329G>C (p.Trp443Cys)
|
rs879254867
|
0.00001
|
NM_000527.5(LDLR):c.1367T>C (p.Leu456Pro)
|
rs200143634
|
0.00001
|
NM_000527.5(LDLR):c.1414G>T (p.Asp472Tyr)
|
rs730882102
|
0.00001
|
NM_000527.5(LDLR):c.1502C>T (p.Ala501Val)
|
rs755667663
|
0.00001
|
NM_000527.5(LDLR):c.1576C>T (p.Pro526Ser)
|
rs730882106
|
0.00001
|
NM_000527.5(LDLR):c.1634G>A (p.Gly545Glu)
|
rs759876319
|
0.00001
|
NM_000527.5(LDLR):c.1691A>G (p.Asn564Ser)
|
rs758194385
|
0.00001
|
NM_000527.5(LDLR):c.1730G>C (p.Trp577Ser)
|
rs138947766
|
0.00001
|
NM_000527.5(LDLR):c.1784G>A (p.Arg595Gln)
|
rs201102492
|
0.00001
|
NM_000527.5(LDLR):c.1822C>T (p.Pro608Ser)
|
rs879255034
|
0.00001
|
NM_000527.5(LDLR):c.1845G>A (p.Glu615=)
|
rs879255047
|
0.00001
|
NM_000527.5(LDLR):c.1846-1G>A
|
rs879255051
|
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.1951G>A (p.Asp651Asn)
|
rs730882110
|
0.00001
|
NM_000527.5(LDLR):c.1966C>A (p.His656Asn)
|
rs762815611
|
0.00001
|
NM_000527.5(LDLR):c.2029T>C (p.Cys677Arg)
|
rs775092314
|
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.223T>A (p.Cys75Ser)
|
rs879254439
|
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.337G>A (p.Glu113Lys)
|
rs769383881
|
0.00001
|
NM_000527.5(LDLR):c.352G>T (p.Asp118Tyr)
|
rs730882080
|
0.00001
|
NM_000527.5(LDLR):c.502G>A (p.Asp168Asn)
|
rs200727689
|
0.00001
|
NM_000527.5(LDLR):c.523G>A (p.Asp175Asn)
|
rs121908033
|
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.782G>T (p.Cys261Phe)
|
rs121908040
|
0.00001
|
NM_000527.5(LDLR):c.788A>G (p.Asp263Gly)
|
rs141681167
|
0.00001
|
NM_000527.5(LDLR):c.796G>A (p.Asp266Asn)
|
rs875989907
|
0.00001
|
NM_000527.5(LDLR):c.808T>C (p.Cys270Arg)
|
rs879254682
|
0.00001
|
NM_000527.5(LDLR):c.820del (p.Thr274fs)
|
rs751122998
|
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.938G>A (p.Cys313Tyr)
|
rs875989911
|
0.00001
|
NM_000527.5(LDLR):c.949G>A (p.Glu317Lys)
|
rs746834464
|
0.00001
|
FH Cape Town 2
|
|
|
GRCh37/hg19 19p13.2(chr19:11210898-11222316)x3
|
|
|
NM_000527.4(LDLR):c.-135C>G
|
|
|
NM_000527.4(LDLR):c.-136C>T
|
rs879254374
|
|
NM_000527.4(LDLR):c.-138del
|
rs387906307
|
|
NM_000527.4(LDLR):c.-152C>T
|
|
|
NM_000527.4(LDLR):c.1690A>C (p.Asn564His)
|
|
|
NM_000527.4(LDLR):c.190+2_190+3dup
|
|
|
NM_000527.4(LDLR):c.313+1G>A
|
|
|
NM_000527.4(LDLR):c.664_681dup18 (p.Asp227_Glu228insCysLysAspLysSerAsp)
|
rs387906306
|
|
NM_000527.4(LDLR):c.694+2T>C
|
rs200238879
|
|
NM_000527.5(LDLR):c.1003G>T (p.Gly335Cys)
|
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.100T>G (p.Cys34Gly)
|
rs879254405
|
|
NM_000527.5(LDLR):c.1010_1013dup (p.Cys338Ter)
|
rs2077362782
|
|
NM_000527.5(LDLR):c.1012T>A (p.Cys338Ser)
|
rs879254753
|
|
NM_000527.5(LDLR):c.1012T>G (p.Cys338Gly)
|
rs879254753
|
|
NM_000527.5(LDLR):c.1013G>A (p.Cys338Tyr)
|
|
|
NM_000527.5(LDLR):c.1016T>C (p.Leu339Pro)
|
|
|
NM_000527.5(LDLR):c.1019G>A (p.Cys340Tyr)
|
rs755757866
|
|
NM_000527.5(LDLR):c.1019_1020delinsTG (p.Cys340Leu)
|
rs879254758
|
|
NM_000527.5(LDLR):c.1027G>A (p.Gly343Ser)
|
|
|
NM_000527.5(LDLR):c.1027G>T (p.Gly343Cys)
|
rs730882096
|
|
NM_000527.5(LDLR):c.1028G>A (p.Gly343Asp)
|
rs879254760
|
|
NM_000527.5(LDLR):c.1028G>T (p.Gly343Val)
|
rs879254760
|
|
NM_000527.5(LDLR):c.1045del (p.Gln349fs)
|
rs879254765
|
|
NM_000527.5(LDLR):c.1049G>C (p.Arg350Pro)
|
rs875989914
|
|
NM_000527.5(LDLR):c.1054T>C (p.Cys352Arg)
|
rs879254769
|
|
NM_000527.5(LDLR):c.1055G>T (p.Cys352Phe)
|
rs193922566
|
|
NM_000527.5(LDLR):c.1056C>A (p.Cys352Ter)
|
rs13306515
|
|
NM_000527.5(LDLR):c.1056C>G (p.Cys352Trp)
|
rs13306515
|
|
NM_000527.5(LDLR):c.1060+10G>A
|
|
|
NM_000527.5(LDLR):c.1061-1G>A
|
rs879254774
|
|
NM_000527.5(LDLR):c.1061-2A>G
|
rs879254773
|
|
NM_000527.5(LDLR):c.1061A>G (p.Asp354Gly)
|
rs755449669
|
|
NM_000527.5(LDLR):c.1066G>T (p.Asp356Tyr)
|
rs767767730
|
|
NM_000527.5(LDLR):c.1067A>T (p.Asp356Val)
|
rs879254777
|
|
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.1072T>C (p.Cys358Arg)
|
rs879254783
|
|
NM_000527.5(LDLR):c.1073G>A (p.Cys358Tyr)
|
rs875989915
|
|
NM_000527.5(LDLR):c.1090T>C (p.Cys364Arg)
|
|
|
NM_000527.5(LDLR):c.1091G>A (p.Cys364Tyr)
|
rs879254788
|
|
NM_000527.5(LDLR):c.1102T>C (p.Cys368Arg)
|
rs879254791
|
|
NM_000527.5(LDLR):c.1102T>G (p.Cys368Gly)
|
rs879254791
|
|
NM_000527.5(LDLR):c.1103G>A (p.Cys368Tyr)
|
|
|
NM_000527.5(LDLR):c.1103G>C (p.Cys368Ser)
|
rs768430352
|
|
NM_000527.5(LDLR):c.1109A>C (p.Asn370Thr)
|
rs879254792
|
|
NM_000527.5(LDLR):c.1118G>A (p.Gly373Asp)
|
|
|
NM_000527.5(LDLR):c.1118G>T (p.Gly373Val)
|
rs879254797
|
|
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.1130G>A (p.Cys377Tyr)
|
rs879254801
|
|
NM_000527.5(LDLR):c.1135T>C (p.Cys379Arg)
|
|
|
NM_000527.5(LDLR):c.1136G>A (p.Cys379Tyr)
|
rs879254804
|
|
NM_000527.5(LDLR):c.1145G>T (p.Gly382Val)
|
rs752951310
|
|
NM_000527.5(LDLR):c.1151A>C (p.Gln384Pro)
|
rs879254807
|
|
NM_000527.5(LDLR):c.1174T>C (p.Cys392Arg)
|
rs879254814
|
|
NM_000527.5(LDLR):c.1176C>A (p.Cys392Ter)
|
|
|
NM_000527.5(LDLR):c.1186+1G>A
|
rs730880131
|
|
NM_000527.5(LDLR):c.1186+1G>T
|
rs730880131
|
|
NM_000527.5(LDLR):c.1186+5G>A
|
rs879254821
|
|
NM_000527.5(LDLR):c.1187-10G>A
|
|
|
NM_000527.5(LDLR):c.1187-1G>A
|
rs879254824
|
|
NM_000527.5(LDLR):c.1187-1G>T
|
rs879254824
|
|
NM_000527.5(LDLR):c.1187-2A>G
|
rs879254823
|
|
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.1206_1207del (p.Phe403fs)
|
rs879254829
|
|
NM_000527.5(LDLR):c.1207T>C (p.Phe403Leu)
|
rs879254831
|
|
NM_000527.5(LDLR):c.1211C>T (p.Thr404Ile)
|
rs879254835
|
|
NM_000527.5(LDLR):c.1215C>G (p.Asn405Lys)
|
rs879254837
|
|
NM_000527.5(LDLR):c.1216C>A (p.Arg406=)
|
rs121908043
|
|
NM_000527.5(LDLR):c.1216C>T (p.Arg406Trp)
|
|
|
NM_000527.5(LDLR):c.1217G>C (p.Arg406Pro)
|
rs552422789
|
|
NM_000527.5(LDLR):c.1223A>T (p.Glu408Val)
|
rs879254838
|
|
NM_000527.5(LDLR):c.1230G>C (p.Arg410Ser)
|
rs879254839
|
|
NM_000527.5(LDLR):c.1235T>C (p.Met412Thr)
|
rs879254842
|
|
NM_000527.5(LDLR):c.1243G>C (p.Asp415His)
|
rs879254844
|
|
NM_000527.5(LDLR):c.1246C>T (p.Arg416Trp)
|
|
|
NM_000527.5(LDLR):c.1247G>C (p.Arg416Pro)
|
rs773658037
|
|
NM_000527.5(LDLR):c.1247G>T (p.Arg416Leu)
|
rs773658037
|
|
NM_000527.5(LDLR):c.1252G>A (p.Glu418Lys)
|
|
|
NM_000527.5(LDLR):c.1255T>C (p.Tyr419His)
|
rs879254847
|
|
NM_000527.5(LDLR):c.1255T>G (p.Tyr419Asp)
|
rs879254847
|
|
NM_000527.5(LDLR):c.1265T>C (p.Leu422Pro)
|
rs879254848
|
|
NM_000527.5(LDLR):c.1268T>C (p.Ile423Thr)
|
rs879254849
|
|
NM_000527.5(LDLR):c.1274A>T (p.Asn425Ile)
|
rs879254850
|
|
NM_000527.5(LDLR):c.1277T>C (p.Leu426Pro)
|
rs879254851
|
|
NM_000527.5(LDLR):c.1284C>A (p.Asn428Lys)
|
|
|
NM_000527.5(LDLR):c.1284C>G (p.Asn428Lys)
|
rs368708058
|
|
NM_000527.5(LDLR):c.1284del (p.Asn428fs)
|
rs2077409930
|
|
NM_000527.5(LDLR):c.1285G>A (p.Val429Met)
|
|
|
NM_000527.5(LDLR):c.1285G>C (p.Val429Leu)
|
rs28942078
|
|
NM_000527.5(LDLR):c.1285G>T (p.Val429Leu)
|
rs28942078
|
|
NM_000527.5(LDLR):c.1291G>A (p.Ala431Thr)
|
|
|
NM_000527.5(LDLR):c.1294C>G (p.Leu432Val)
|
rs730882100
|
|
NM_000527.5(LDLR):c.1295T>C (p.Leu432Pro)
|
rs879254855
|
|
NM_000527.5(LDLR):c.1297G>C (p.Asp433His)
|
rs121908036
|
|
NM_000527.5(LDLR):c.1297G>T (p.Asp433Tyr)
|
rs121908036
|
|
NM_000527.5(LDLR):c.1301C>A (p.Thr434Lys)
|
rs745343524
|
|
NM_000527.5(LDLR):c.1301C>G (p.Thr434Arg)
|
rs745343524
|
|
NM_000527.5(LDLR):c.131G>A (p.Trp44Ter)
|
rs267607213
|
|
NM_000527.5(LDLR):c.1322T>A (p.Ile441Asn)
|
rs879254862
|
|
NM_000527.5(LDLR):c.1322T>C (p.Ile441Thr)
|
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.1325A>G (p.Tyr442Cys)
|
rs879254864
|
|
NM_000527.5(LDLR):c.1327T>C (p.Trp443Arg)
|
rs773566855
|
|
NM_000527.5(LDLR):c.1328G>C (p.Trp443Ser)
|
rs879254866
|
|
NM_000527.5(LDLR):c.1329G>T (p.Trp443Cys)
|
rs879254867
|
|
NM_000527.5(LDLR):c.1330T>C (p.Ser444Pro)
|
rs875989919
|
|
NM_000527.5(LDLR):c.1340C>G (p.Ser447Cys)
|
rs879254870
|
|
NM_000527.5(LDLR):c.1352T>C (p.Ile451Thr)
|
|
|
NM_000527.5(LDLR):c.1358+1G>A
|
rs775924858
|
|
NM_000527.5(LDLR):c.1358+2T>A
|
rs193922567
|
|
NM_000527.5(LDLR):c.1358+2T>C
|
rs193922567
|
|
NM_000527.5(LDLR):c.136T>G (p.Cys46Gly)
|
rs879254415
|
|
NM_000527.5(LDLR):c.137G>C (p.Cys46Ser)
|
rs121908041
|
|
NM_000527.5(LDLR):c.1394A>G (p.Tyr465Cys)
|
rs879254889
|
|
NM_000527.5(LDLR):c.139G>A (p.Asp47Asn)
|
|
|
NM_000527.5(LDLR):c.139_144del (p.Asp47_Gly48del)
|
rs387906301
|
|
NM_000527.5(LDLR):c.1415_1418dup (p.Gln474fs)
|
rs879254892
|
|
NM_000527.5(LDLR):c.1426C>T (p.Pro476Ser)
|
rs879254898
|
|
NM_000527.5(LDLR):c.1432G>A (p.Gly478Arg)
|
|
|
NM_000527.5(LDLR):c.1433G>A (p.Gly478Glu)
|
rs1555805380
|
|
NM_000527.5(LDLR):c.1436T>C (p.Leu479Pro)
|
rs879254900
|
|
NM_000527.5(LDLR):c.1438G>A (p.Ala480Thr)
|
rs879254901
|
|
NM_000527.5(LDLR):c.1447T>C (p.Trp483Arg)
|
rs879254905
|
|
NM_000527.5(LDLR):c.1463T>A (p.Ile488Asn)
|
rs879254913
|
|
NM_000527.5(LDLR):c.1463T>C (p.Ile488Thr)
|
|
|
NM_000527.5(LDLR):c.1466A>G (p.Tyr489Cys)
|
rs879254914
|
|
NM_000527.5(LDLR):c.1467C>G (p.Tyr489Ter)
|
rs370777955
|
|
NM_000527.5(LDLR):c.1468T>C (p.Trp490Arg)
|
rs730880130
|
|
NM_000527.5(LDLR):c.1474G>A (p.Asp492Asn)
|
|
|
NM_000527.5(LDLR):c.1475A>G (p.Asp492Gly)
|
rs879254918
|
|
NM_000527.5(LDLR):c.1478_1479del (p.Ser493fs)
|
rs869025453
|
|
NM_000527.5(LDLR):c.1486_1487del (p.Gly496fs)
|
rs869025454
|
|
NM_000527.5(LDLR):c.1495T>C (p.Ser499Pro)
|
rs879254921
|
|
NM_000527.5(LDLR):c.1496_1497del (p.Ser499fs)
|
rs879254922
|
|
NM_000527.5(LDLR):c.1520A>C (p.Lys507Thr)
|
rs879254929
|
|
NM_000527.5(LDLR):c.1525A>G (p.Lys509Glu)
|
rs879254931
|
|
NM_000527.5(LDLR):c.1549T>C (p.Ser517Pro)
|
rs879254936
|
|
NM_000527.5(LDLR):c.1558A>G (p.Arg520Gly)
|
rs879254939
|
|
NM_000527.5(LDLR):c.155G>A (p.Cys52Tyr)
|
rs879254418
|
|
NM_000527.5(LDLR):c.1567G>A (p.Val523Met)
|
|
|
NM_000527.5(LDLR):c.1574A>T (p.Asp525Val)
|
rs879254943
|
|
NM_000527.5(LDLR):c.1576C>A (p.Pro526Thr)
|
rs730882106
|
|
NM_000527.5(LDLR):c.1577C>G (p.Pro526Arg)
|
rs879254944
|
|
NM_000527.5(LDLR):c.1586+1G>A
|
|
|
NM_000527.5(LDLR):c.1586+1G>T
|
rs755389753
|
|
NM_000527.5(LDLR):c.1586+2T>A
|
rs879254945
|
|
NM_000527.5(LDLR):c.1586+2T>C
|
rs879254945
|
|
NM_000527.5(LDLR):c.1586+5G>A
|
rs781362878
|
|
NM_000527.5(LDLR):c.1586+5G>C
|
rs781362878
|
|
NM_000527.5(LDLR):c.1587-1G>A
|
rs879254948
|
|
NM_000527.5(LDLR):c.1587-2A>T
|
rs879254947
|
|
NM_000527.5(LDLR):c.1592T>G (p.Met531Arg)
|
rs779913921
|
|
NM_000527.5(LDLR):c.1597T>C (p.Trp533Arg)
|
rs879254951
|
|
NM_000527.5(LDLR):c.1601C>A (p.Thr534Asn)
|
rs879254954
|
|
NM_000527.5(LDLR):c.1603G>T (p.Asp535Tyr)
|
rs879254955
|
|
NM_000527.5(LDLR):c.1618G>A (p.Ala540Thr)
|
|
|
NM_000527.5(LDLR):c.1618G>T (p.Ala540Ser)
|
rs769370816
|
|
NM_000527.5(LDLR):c.1625T>G (p.Ile542Ser)
|
rs879254962
|
|
NM_000527.5(LDLR):c.1629_1652del (p.Lys543_Asp551delinsAsn)
|
rs879254963
|
|
NM_000527.5(LDLR):c.1633G>A (p.Gly545Arg)
|
rs879254965
|
|
NM_000527.5(LDLR):c.1633G>C (p.Gly545Arg)
|
rs879254965
|
|
NM_000527.5(LDLR):c.1636G>C (p.Gly546Arg)
|
rs879254966
|
|
NM_000527.5(LDLR):c.1637G>A (p.Gly546Asp)
|
|
|
NM_000527.5(LDLR):c.1637G>T (p.Gly546Val)
|
rs28942081
|
|
NM_000527.5(LDLR):c.1646G>A (p.Gly549Asp)
|
|
|
NM_000527.5(LDLR):c.1646G>T (p.Gly549Val)
|
rs28941776
|
|
NM_000527.5(LDLR):c.1659C>G (p.Tyr553Ter)
|
rs564258872
|
|
NM_000527.5(LDLR):c.166T>C (p.Ser56Pro)
|
rs878854026
|
|
NM_000527.5(LDLR):c.1678A>T (p.Ile560Phe)
|
rs1131692213
|
|
NM_000527.5(LDLR):c.1684_1686dup (p.Trp562dup)
|
rs879254983
|
|
NM_000527.5(LDLR):c.1686G>A (p.Trp562Ter)
|
rs879254985
|
|
NM_000527.5(LDLR):c.1688C>A (p.Pro563His)
|
rs879254987
|
|
NM_000527.5(LDLR):c.1690A>G (p.Asn564Asp)
|
rs397509365
|
|
NM_000527.5(LDLR):c.1694G>C (p.Gly565Ala)
|
rs28942082
|
|
NM_000527.5(LDLR):c.1694G>T (p.Gly565Val)
|
rs28942082
|
|
NM_000527.5(LDLR):c.1698_1704delinsGCCCAAT (p.Ile566_Leu568delinsMetProAsn)
|
rs879254989
|
|
NM_000527.5(LDLR):c.1702C>G (p.Leu568Val)
|
rs746959386
|
|
NM_000527.5(LDLR):c.1703T>C (p.Leu568Pro)
|
rs879254991
|
|
NM_000527.5(LDLR):c.1705+1G>A
|
rs875989926
|
|
NM_000527.5(LDLR):c.1705+1G>C
|
rs875989926
|
|
NM_000527.5(LDLR):c.1705+1G>T
|
rs875989926
|
|
NM_000527.5(LDLR):c.1705+2_1705+3insC
|
rs879254994
|
|
NM_000527.5(LDLR):c.1706-1G>A
|
rs879254996
|
|
NM_000527.5(LDLR):c.1706-1G>T
|
rs879254996
|
|
NM_000527.5(LDLR):c.1706-2A>C
|
rs878854027
|
|
NM_000527.5(LDLR):c.1721G>A (p.Arg574His)
|
|
|
NM_000527.5(LDLR):c.1727A>G (p.Tyr576Cys)
|
rs879254999
|
|
NM_000527.5(LDLR):c.1729T>C (p.Trp577Arg)
|
rs879255000
|
|
NM_000527.5(LDLR):c.1729T>G (p.Trp577Gly)
|
rs879255000
|
|
NM_000527.5(LDLR):c.172G>T (p.Glu58Ter)
|
rs879254423
|
|
NM_000527.5(LDLR):c.1730G>A (p.Trp577Ter)
|
rs138947766
|
|
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.1735G>A (p.Asp579Asn)
|
rs875989929
|
|
NM_000527.5(LDLR):c.1735G>T (p.Asp579Tyr)
|
rs875989929
|
|
NM_000527.5(LDLR):c.1739C>T (p.Ser580Phe)
|
rs934496989
|
|
NM_000527.5(LDLR):c.1744C>T (p.Leu582Phe)
|
rs1131692216
|
|
NM_000527.5(LDLR):c.1745T>C (p.Leu582Pro)
|
rs875989930
|
|
NM_000527.5(LDLR):c.1754T>A (p.Ile585Asn)
|
rs879255012
|
|
NM_000527.5(LDLR):c.1775G>A (p.Gly592Glu)
|
|
|
NM_000527.5(LDLR):c.1783C>T (p.Arg595Trp)
|
|
|
NM_000527.5(LDLR):c.1784G>T (p.Arg595Leu)
|
rs201102492
|
|
NM_000527.5(LDLR):c.1796T>C (p.Leu599Ser)
|
rs879255025
|
|
NM_000527.5(LDLR):c.1801G>C (p.Asp601His)
|
|
|
NM_000527.5(LDLR):c.1808dup (p.Arg604fs)
|
rs1555806526
|
|
NM_000527.5(LDLR):c.1813C>T (p.Leu605=)
|
rs879255031
|
|
NM_000527.5(LDLR):c.1814T>C (p.Leu605Pro)
|
rs875989932
|
|
NM_000527.5(LDLR):c.1820A>G (p.His607Arg)
|
rs879255033
|
|
NM_000527.5(LDLR):c.1823C>T (p.Pro608Leu)
|
rs879255035
|
|
NM_000527.5(LDLR):c.1829C>G (p.Ser610Cys)
|
rs879255038
|
|
NM_000527.5(LDLR):c.1829C>T (p.Ser610Phe)
|
rs879255038
|
|
NM_000527.5(LDLR):c.1829_1831del (p.Ser610del)
|
rs879255037
|
|
NM_000527.5(LDLR):c.1833G>C (p.Leu611Phe)
|
rs879255041
|
|
NM_000527.5(LDLR):c.1843G>A (p.Glu615Lys)
|
rs879255045
|
|
NM_000527.5(LDLR):c.1845+11C>G
|
rs370245937
|
|
NM_000527.5(LDLR):c.1845+1G>A
|
rs879255049
|
|
NM_000527.5(LDLR):c.1845+1G>T
|
rs879255049
|
|
NM_000527.5(LDLR):c.1845+1del
|
|
|
NM_000527.5(LDLR):c.1845+2T>C
|
|
|
NM_000527.5(LDLR):c.1853T>G (p.Val618Gly)
|
rs1057519677
|
|
NM_000527.5(LDLR):c.1853_1864del (p.Val618_Thr621del)
|
rs879255052
|
|
NM_000527.5(LDLR):c.1855T>C (p.Phe619Leu)
|
rs747134711
|
|
NM_000527.5(LDLR):c.1856T>C (p.Phe619Ser)
|
rs879255054
|
|
NM_000527.5(LDLR):c.1856T>G (p.Phe619Cys)
|
rs879255054
|
|
NM_000527.5(LDLR):c.1860G>T (p.Trp620Cys)
|
rs875989933
|
|
NM_000527.5(LDLR):c.1862C>G (p.Thr621Arg)
|
rs879255058
|
|
NM_000527.5(LDLR):c.1864G>A (p.Asp622Asn)
|
rs879255059
|
|
NM_000527.5(LDLR):c.1867dup (p.Ile623fs)
|
rs1555807206
|
|
NM_000527.5(LDLR):c.1868TCA[1] (p.Ile624del)
|
|
|
NM_000527.5(LDLR):c.1878del (p.Ala627fs)
|
rs1057516134
|
|
NM_000527.5(LDLR):c.1879G>A (p.Ala627Thr)
|
rs879255066
|
|
NM_000527.5(LDLR):c.187T>C (p.Cys63Arg)
|
rs879254426
|
|
NM_000527.5(LDLR):c.1880C>A (p.Ala627Asp)
|
rs875989934
|
|
NM_000527.5(LDLR):c.1891_2311+1062del
|
|
|
NM_000527.5(LDLR):c.1892C>A (p.Ala631Asp)
|
rs879255070
|
|
NM_000527.5(LDLR):c.1897C>T (p.Arg633Cys)
|
|
|
NM_000527.5(LDLR):c.1898G>T (p.Arg633Leu)
|
rs754536745
|
|
NM_000527.5(LDLR):c.190+1G>A
|
rs879254428
|
|
NM_000527.5(LDLR):c.190+5G>A
|
rs1131692190
|
|
NM_000527.5(LDLR):c.1904_1905del (p.Thr635fs)
|
rs2077524382
|
|
NM_000527.5(LDLR):c.191-1G>A
|
rs879254433
|
|
NM_000527.5(LDLR):c.191-2A>G
|
rs544203837
|
|
NM_000527.5(LDLR):c.191-2delinsCT
|
rs879254432
|
|
NM_000527.5(LDLR):c.1911del (p.Asp638fs)
|
rs867272973
|
|
NM_000527.5(LDLR):c.1916T>A (p.Val639Asp)
|
rs794728584
|
|
NM_000527.5(LDLR):c.1922T>A (p.Leu641Ter)
|
rs2077524952
|
|
NM_000527.5(LDLR):c.1945C>T (p.Pro649Ser)
|
rs879255080
|
|
NM_000527.5(LDLR):c.1946C>T (p.Pro649Leu)
|
rs879255081
|
|
NM_000527.5(LDLR):c.1955T>C (p.Met652Thr)
|
rs875989936
|
|
NM_000527.5(LDLR):c.1965C>G (p.Phe655Leu)
|
rs879255090
|
|
NM_000527.5(LDLR):c.1978C>A (p.Gln660Lys)
|
rs193922569
|
|
NM_000527.5(LDLR):c.1978C>T (p.Gln660Ter)
|
rs193922569
|
|
NM_000527.5(LDLR):c.1979A>G (p.Gln660Arg)
|
rs879255095
|
|
NM_000527.5(LDLR):c.1982C>T (p.Pro661Leu)
|
|
|
NM_000527.5(LDLR):c.1988-2A>T
|
rs879255101
|
|
NM_000527.5(LDLR):c.1999T>C (p.Cys667Arg)
|
|
|
NM_000527.5(LDLR):c.1A>C (p.Met1Leu)
|
rs879254382
|
|
NM_000527.5(LDLR):c.1A>G (p.Met1Val)
|
rs879254382
|
|
NM_000527.5(LDLR):c.1A>T (p.Met1Leu)
|
rs879254382
|
|
NM_000527.5(LDLR):c.2000G>A (p.Cys667Tyr)
|
rs28942083
|
|
NM_000527.5(LDLR):c.2001T>G (p.Cys667Trp)
|
rs879255109
|
|
NM_000527.5(LDLR):c.2001_2002del (p.Cys667_Glu668delinsTer)
|
rs1600743301
|
|
NM_000527.5(LDLR):c.2026G>A (p.Gly676Ser)
|
rs745753810
|
|
NM_000527.5(LDLR):c.2026G>C (p.Gly676Arg)
|
rs745753810
|
|
NM_000527.5(LDLR):c.2030G>A (p.Cys677Tyr)
|
rs875989938
|
|
NM_000527.5(LDLR):c.2030G>T (p.Cys677Phe)
|
rs875989938
|
|
NM_000527.5(LDLR):c.2033_2044del (p.Gln678_Cys681del)
|
rs879255115
|
|
NM_000527.5(LDLR):c.2037T>A (p.Tyr679Ter)
|
rs760436036
|
|
NM_000527.5(LDLR):c.2041T>G (p.Cys681Gly)
|
rs879255118
|
|
NM_000527.5(LDLR):c.2042G>A (p.Cys681Tyr)
|
rs201637900
|
|
NM_000527.5(LDLR):c.2042G>C (p.Cys681Ser)
|
rs201637900
|
|
NM_000527.5(LDLR):c.2043C>A (p.Cys681Ter)
|
|
|
NM_000527.5(LDLR):c.2043C>G (p.Cys681Trp)
|
rs121908031
|
|
NM_000527.5(LDLR):c.2053C>A (p.Pro685Thr)
|
rs2569548
|
|
NM_000527.5(LDLR):c.2053C>T (p.Pro685Ser)
|
rs2569548
|
|
NM_000527.5(LDLR):c.2054C>T (p.Pro685Leu)
|
|
|
NM_000527.5(LDLR):c.2087G>A (p.Cys696Tyr)
|
rs879255134
|
|
NM_000527.5(LDLR):c.2092del (p.Cys698fs)
|
rs879255135
|
|
NM_000527.5(LDLR):c.2093G>A (p.Cys698Tyr)
|
|
|
NM_000527.5(LDLR):c.2093G>T (p.Cys698Phe)
|
rs879255136
|
|
NM_000527.5(LDLR):c.2096C>T (p.Pro699Leu)
|
|
|
NM_000527.5(LDLR):c.2099A>G (p.Asp700Gly)
|
rs879255139
|
|
NM_000527.5(LDLR):c.2113G>T (p.Ala705Ser)
|
rs193922570
|
|
NM_000527.5(LDLR):c.2131T>A (p.Cys711Ser)
|
rs879255144
|
|
NM_000527.5(LDLR):c.2132G>A (p.Cys711Tyr)
|
rs879255145
|
|
NM_000527.5(LDLR):c.2132G>T (p.Cys711Phe)
|
rs879255145
|
|
NM_000527.5(LDLR):c.2140+1G>A
|
rs145787161
|
|
NM_000527.5(LDLR):c.2140+1G>T
|
rs145787161
|
|
NM_000527.5(LDLR):c.2140+2T>C
|
rs879255147
|
|
NM_000527.5(LDLR):c.2140+86C>G
|
rs587776886
|
|
NM_000527.5(LDLR):c.2140G>C (p.Glu714Gln)
|
rs869320652
|
|
NM_000527.5(LDLR):c.2215C>T (p.Gln739Ter)
|
rs370018159
|
|
NM_000527.5(LDLR):c.224G>A (p.Cys75Tyr)
|
rs875989890
|
|
NM_000527.5(LDLR):c.227_233del (p.Gly76fs)
|
rs2147216927
|
|
NM_000527.5(LDLR):c.230del (p.Gly77fs)
|
rs879254440
|
|
NM_000527.5(LDLR):c.2311+1G>T
|
|
|
NM_000527.5(LDLR):c.2311+2T>G
|
rs879255176
|
|
NM_000527.5(LDLR):c.2312-3C>A
|
|
|
NM_000527.5(LDLR):c.233del (p.Arg78fs)
|
rs1057516129
|
|
NM_000527.5(LDLR):c.2389+1G>A
|
rs879255186
|
|
NM_000527.5(LDLR):c.2389+1G>T
|
rs879255186
|
|
NM_000527.5(LDLR):c.2389+2T>G
|
rs879255188
|
|
NM_000527.5(LDLR):c.2389G>A (p.Val797Met)
|
|
|
NM_000527.5(LDLR):c.2389G>T (p.Val797Leu)
|
rs750518671
|
|
NM_000527.5(LDLR):c.2390-1G>C
|
rs879255193
|
|
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.2416dup (p.Val806fs)
|
|
|
NM_000527.5(LDLR):c.241C>T (p.Arg81Cys)
|
|
|
NM_000527.5(LDLR):c.2438G>A (p.Trp813Ter)
|
rs879255212
|
|
NM_000527.5(LDLR):c.2441G>A (p.Arg814Gln)
|
|
|
NM_000527.5(LDLR):c.244T>G (p.Cys82Gly)
|
rs879254447
|
|
NM_000527.5(LDLR):c.245G>A (p.Cys82Tyr)
|
rs879254448
|
|
NM_000527.5(LDLR):c.245G>T (p.Cys82Phe)
|
rs879254448
|
|
NM_000527.5(LDLR):c.2475C>A (p.Asn825Lys)
|
rs374045590
|
|
NM_000527.5(LDLR):c.2475C>G (p.Asn825Lys)
|
rs374045590
|
|
NM_000527.5(LDLR):c.2476C>A (p.Pro826Thr)
|
rs879255217
|
|
NM_000527.5(LDLR):c.2479G>A (p.Val827Ile)
|
rs137853964
|
|
NM_000527.5(LDLR):c.2483A>C (p.Tyr828Ser)
|
rs28942085
|
|
NM_000527.5(LDLR):c.2483A>G (p.Tyr828Cys)
|
|
|
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.2531G>A (p.Gly844Asp)
|
rs121908037
|
|
NM_000527.5(LDLR):c.2544dup (p.Ser849fs)
|
rs879255222
|
|
NM_000527.5(LDLR):c.2546C>A (p.Ser849Ter)
|
rs377437226
|
|
NM_000527.5(LDLR):c.2546del (p.Pro848_Ser849insTer)
|
|
|
NM_000527.5(LDLR):c.257_265del (p.Phe86_Arg88del)
|
rs879254451
|
|
NM_000527.5(LDLR):c.265T>C (p.Cys89Arg)
|
|
|
NM_000527.5(LDLR):c.266G>A (p.Cys89Tyr)
|
rs875989894
|
|
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.274del (p.Gln92fs)
|
rs2077232183
|
|
NM_000527.5(LDLR):c.283T>A (p.Cys95Ser)
|
rs879254456
|
|
NM_000527.5(LDLR):c.283T>C (p.Cys95Arg)
|
rs879254456
|
|
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.284G>T (p.Cys95Phe)
|
rs879254457
|
|
NM_000527.5(LDLR):c.28T>C (p.Trp10Arg)
|
|
|
NM_000527.5(LDLR):c.298G>A (p.Asp100Asn)
|
rs879254459
|
|
NM_000527.5(LDLR):c.299A>G (p.Asp100Gly)
|
rs879254460
|
|
NM_000527.5(LDLR):c.310T>C (p.Cys104Arg)
|
rs879254464
|
|
NM_000527.5(LDLR):c.311G>A (p.Cys104Tyr)
|
rs875989895
|
|
NM_000527.5(LDLR):c.313+1G>C
|
rs112029328
|
|
NM_000527.5(LDLR):c.313+1G>T
|
rs112029328
|
|
NM_000527.5(LDLR):c.313+1dup
|
rs879254466
|
|
NM_000527.5(LDLR):c.313+2T>A
|
rs793888517
|
|
NM_000527.5(LDLR):c.313+2dup
|
rs875989897
|
|
NM_000527.5(LDLR):c.313+5G>A
|
|
|
NM_000527.5(LDLR):c.313+5G>T
|
rs879254467
|
|
NM_000527.5(LDLR):c.313_313+1del
|
rs875989896
|
|
NM_000527.5(LDLR):c.314-1G>A
|
rs879254471
|
|
NM_000527.5(LDLR):c.314-446_1187-386dup
|
|
|
NM_000527.5(LDLR):c.324_325delinsTC (p.Cys109Arg)
|
rs879254476
|
|
NM_000527.5(LDLR):c.326G>A (p.Cys109Tyr)
|
rs121908042
|
|
NM_000527.5(LDLR):c.326G>C (p.Cys109Ser)
|
rs121908042
|
|
NM_000527.5(LDLR):c.326G>T (p.Cys109Phe)
|
rs121908042
|
|
NM_000527.5(LDLR):c.337G>T (p.Glu113Ter)
|
|
|
NM_000527.5(LDLR):c.340_344del (p.Phe114fs)
|
rs1057516132
|
|
NM_000527.5(LDLR):c.346T>C (p.Cys116Arg)
|
rs879254482
|
|
NM_000527.5(LDLR):c.347_349del (p.Cys116_His117delinsTyr)
|
rs879254483
|
|
NM_000527.5(LDLR):c.361T>C (p.Cys121Arg)
|
rs879254492
|
|
NM_000527.5(LDLR):c.377T>C (p.Phe126Ser)
|
rs879254502
|
|
NM_000527.5(LDLR):c.382T>C (p.Cys128Arg)
|
rs879254505
|
|
NM_000527.5(LDLR):c.383G>A (p.Cys128Tyr)
|
rs879254506
|
|
NM_000527.5(LDLR):c.391G>C (p.Asp131His)
|
rs879254511
|
|
NM_000527.5(LDLR):c.3G>A (p.Met1Ile)
|
rs879254383
|
|
NM_000527.5(LDLR):c.3G>T (p.Met1Ile)
|
rs879254383
|
|
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.401G>T (p.Cys134Phe)
|
rs879254514
|
|
NM_000527.5(LDLR):c.415G>A (p.Asp139Asn)
|
|
|
NM_000527.5(LDLR):c.416A>G (p.Asp139Gly)
|
rs879254518
|
|
NM_000527.5(LDLR):c.416A>T (p.Asp139Val)
|
rs879254518
|
|
NM_000527.5(LDLR):c.417C>G (p.Asp139Glu)
|
rs537484504
|
|
NM_000527.5(LDLR):c.418G>A (p.Glu140Lys)
|
|
|
NM_000527.5(LDLR):c.419A>G (p.Glu140Gly)
|
rs879254519
|
|
NM_000527.5(LDLR):c.420G>C (p.Glu140Asp)
|
rs879254520
|
|
NM_000527.5(LDLR):c.420G>T (p.Glu140Asp)
|
rs879254520
|
|
NM_000527.5(LDLR):c.427T>A (p.Cys143Ser)
|
rs875989901
|
|
NM_000527.5(LDLR):c.427T>C (p.Cys143Arg)
|
rs875989901
|
|
NM_000527.5(LDLR):c.427T>G (p.Cys143Gly)
|
rs875989901
|
|
NM_000527.5(LDLR):c.428G>A (p.Cys143Tyr)
|
rs879254522
|
|
NM_000527.5(LDLR):c.428G>C (p.Cys143Ser)
|
rs879254522
|
|
NM_000527.5(LDLR):c.428G>T (p.Cys143Phe)
|
rs879254522
|
|
NM_000527.5(LDLR):c.440C>T (p.Thr147Ile)
|
rs879254524
|
|
NM_000527.5(LDLR):c.442T>C (p.Cys148Arg)
|
rs879254525
|
|
NM_000527.5(LDLR):c.443G>A (p.Cys148Tyr)
|
rs879254526
|
|
NM_000527.5(LDLR):c.443G>C (p.Cys148Ser)
|
rs879254526
|
|
NM_000527.5(LDLR):c.458T>G (p.Phe153Cys)
|
rs879254533
|
|
NM_000527.5(LDLR):c.460C>T (p.Gln154Ter)
|
rs879254534
|
|
NM_000527.5(LDLR):c.463T>C (p.Cys155Arg)
|
rs879254535
|
|
NM_000527.5(LDLR):c.463T>G (p.Cys155Gly)
|
rs879254535
|
|
NM_000527.5(LDLR):c.464G>A (p.Cys155Tyr)
|
rs879254536
|
|
NM_000527.5(LDLR):c.464G>T (p.Cys155Phe)
|
rs879254536
|
|
NM_000527.5(LDLR):c.467del (p.Asn156fs)
|
rs1057516135
|
|
NM_000527.5(LDLR):c.478T>C (p.Cys160Arg)
|
rs879254540
|
|
NM_000527.5(LDLR):c.499T>C (p.Cys167Arg)
|
rs879254547
|
|
NM_000527.5(LDLR):c.500G>A (p.Cys167Tyr)
|
rs879254548
|
|
NM_000527.5(LDLR):c.501C>A (p.Cys167Ter)
|
|
|
NM_000527.5(LDLR):c.501C>G (p.Cys167Trp)
|
rs752596535
|
|
NM_000527.5(LDLR):c.502G>C (p.Asp168His)
|
rs200727689
|
|
NM_000527.5(LDLR):c.502G>T (p.Asp168Tyr)
|
rs200727689
|
|
NM_000527.5(LDLR):c.514G>C (p.Asp172His)
|
rs879254554
|
|
NM_000527.5(LDLR):c.514G>T (p.Asp172Tyr)
|
rs879254554
|
|
NM_000527.5(LDLR):c.517T>C (p.Cys173Arg)
|
rs879254558
|
|
NM_000527.5(LDLR):c.518G>A (p.Cys173Tyr)
|
rs879254560
|
|
NM_000527.5(LDLR):c.519C>A (p.Cys173Ter)
|
rs769318035
|
|
NM_000527.5(LDLR):c.519C>G (p.Cys173Trp)
|
rs769318035
|
|
NM_000527.5(LDLR):c.530C>T (p.Ser177Leu)
|
|
|
NM_000527.5(LDLR):c.532G>C (p.Asp178His)
|
rs879254565
|
|
NM_000527.5(LDLR):c.533A>G (p.Asp178Gly)
|
rs875989902
|
|
NM_000527.5(LDLR):c.533A>T (p.Asp178Val)
|
rs875989902
|
|
NM_000527.5(LDLR):c.534T>G (p.Asp178Glu)
|
rs879254566
|
|
NM_000527.5(LDLR):c.539G>A (p.Trp180Ter)
|
rs879254569
|
|
NM_000527.5(LDLR):c.542C>G (p.Pro181Arg)
|
rs557344672
|
|
NM_000527.5(LDLR):c.542C>T (p.Pro181Leu)
|
|
|
NM_000527.5(LDLR):c.550T>C (p.Cys184Arg)
|
rs879254572
|
|
NM_000527.5(LDLR):c.551G>A (p.Cys184Tyr)
|
|
|
NM_000527.5(LDLR):c.551G>C (p.Cys184Ser)
|
rs121908039
|
|
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.611G>C (p.Cys204Ser)
|
rs879254592
|
|
NM_000527.5(LDLR):c.618T>G (p.Ser206Arg)
|
rs879254595
|
|
NM_000527.5(LDLR):c.621C>T (p.Gly207=)
|
rs121908044
|
|
NM_000527.5(LDLR):c.622G>A (p.Glu208Lys)
|
rs879254597
|
|
NM_000527.5(LDLR):c.622G>T (p.Glu208Ter)
|
rs879254597
|
|
NM_000527.5(LDLR):c.626G>A (p.Cys209Tyr)
|
rs879254600
|
|
NM_000527.5(LDLR):c.647G>A (p.Cys216Tyr)
|
rs879254611
|
|
NM_000527.5(LDLR):c.648dup (p.Asp217Ter)
|
rs875989903
|
|
NM_000527.5(LDLR):c.651TGG[1] (p.Gly219del)
|
rs121908027
|
|
NM_000527.5(LDLR):c.653del (p.Gly218fs)
|
rs137853966
|
|
NM_000527.5(LDLR):c.661G>A (p.Asp221Asn)
|
rs875989906
|
|
NM_000527.5(LDLR):c.661G>T (p.Asp221Tyr)
|
rs875989906
|
|
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>T (p.Cys222Phe)
|
rs730882086
|
|
NM_000527.5(LDLR):c.67+1G>A
|
|
|
NM_000527.5(LDLR):c.67+2T>A
|
rs879254394
|
|
NM_000527.5(LDLR):c.670G>A (p.Asp224Asn)
|
rs387906303
|
|
NM_000527.5(LDLR):c.671A>G (p.Asp224Gly)
|
rs879254630
|
|
NM_000527.5(LDLR):c.671A>T (p.Asp224Val)
|
rs879254630
|
|
NM_000527.5(LDLR):c.672_686del (p.Asp224_Glu228del)
|
rs1555803439
|
|
NM_000527.5(LDLR):c.676T>C (p.Ser226Pro)
|
rs879254635
|
|
NM_000527.5(LDLR):c.68-1G>A
|
rs879254397
|
|
NM_000527.5(LDLR):c.68-2A>G
|
|
|
NM_000527.5(LDLR):c.68-2A>T
|
rs879254396
|
|
NM_000527.5(LDLR):c.68-5_68-2del
|
rs879254395
|
|
NM_000527.5(LDLR):c.680A>T (p.Asp227Val)
|
rs879254638
|
|
NM_000527.5(LDLR):c.680_681del (p.Asp227fs)
|
rs387906305
|
|
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.683A>G (p.Glu228Gly)
|
rs879254642
|
|
NM_000527.5(LDLR):c.684G>C (p.Glu228Asp)
|
rs1208216597
|
|
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.692G>A (p.Cys231Tyr)
|
rs879254644
|
|
NM_000527.5(LDLR):c.693C>A (p.Cys231Ter)
|
|
|
NM_000527.5(LDLR):c.694+1G>A
|
rs879254646
|
|
NM_000527.5(LDLR):c.695-1G>A
|
rs879254652
|
|
NM_000527.5(LDLR):c.695-1G>T
|
rs879254652
|
|
NM_000527.5(LDLR):c.706T>C (p.Cys236Arg)
|
rs879254655
|
|
NM_000527.5(LDLR):c.722T>C (p.Phe241Ser)
|
rs748131256
|
|
NM_000527.5(LDLR):c.727T>C (p.Cys243Arg)
|
rs879254659
|
|
NM_000527.5(LDLR):c.742T>G (p.Cys248Gly)
|
rs879254662
|
|
NM_000527.5(LDLR):c.743G>T (p.Cys248Phe)
|
rs879254663
|
|
NM_000527.5(LDLR):c.757C>T (p.Arg253Trp)
|
|
|
NM_000527.5(LDLR):c.761A>C (p.Gln254Pro)
|
rs879254667
|
|
NM_000527.5(LDLR):c.762G>T (p.Gln254His)
|
rs764526789
|
|
NM_000527.5(LDLR):c.763T>A (p.Cys255Ser)
|
rs879254668
|
|
NM_000527.5(LDLR):c.763T>C (p.Cys255Arg)
|
rs879254668
|
|
NM_000527.5(LDLR):c.767A>G (p.Asp256Gly)
|
rs879254670
|
|
NM_000527.5(LDLR):c.777T>G (p.Tyr259Ter)
|
rs2147228929
|
|
NM_000527.5(LDLR):c.779_782del (p.Asp260fs)
|
rs1600713742
|
|
NM_000527.5(LDLR):c.796G>T (p.Asp266Tyr)
|
rs875989907
|
|
NM_000527.5(LDLR):c.799G>A (p.Glu267Lys)
|
rs879254679
|
|
NM_000527.5(LDLR):c.79T>C (p.Cys27Arg)
|
rs1555802245
|
|
NM_000527.5(LDLR):c.801A>T (p.Glu267Asp)
|
rs879254681
|
|
NM_000527.5(LDLR):c.806G>A (p.Gly269Asp)
|
|
|
NM_000527.5(LDLR):c.808T>A (p.Cys270Ser)
|
rs879254682
|
|
NM_000527.5(LDLR):c.809G>A (p.Cys270Tyr)
|
rs879254683
|
|
NM_000527.5(LDLR):c.817+1G>A
|
rs879254685
|
|
NM_000527.5(LDLR):c.818-1G>A
|
rs879254688
|
|
NM_000527.5(LDLR):c.818-3C>G
|
rs886039831
|
|
NM_000527.5(LDLR):c.81C>G (p.Cys27Trp)
|
|
|
NM_000527.5(LDLR):c.826T>C (p.Cys276Arg)
|
rs879254692
|
|
NM_000527.5(LDLR):c.826T>G (p.Cys276Gly)
|
rs879254692
|
|
NM_000527.5(LDLR):c.827G>A (p.Cys276Tyr)
|
rs730882089
|
|
NM_000527.5(LDLR):c.828C>G (p.Cys276Trp)
|
|
|
NM_000527.5(LDLR):c.82G>T (p.Glu28Ter)
|
rs551747280
|
|
NM_000527.5(LDLR):c.850T>G (p.Cys284Gly)
|
rs879254693
|
|
NM_000527.5(LDLR):c.858C>A (p.Ser286Arg)
|
rs140241383
|
|
NM_000527.5(LDLR):c.859G>T (p.Gly287Cys)
|
rs375495026
|
|
NM_000527.5(LDLR):c.865del (p.Cys289fs)
|
rs879254696
|
|
NM_000527.5(LDLR):c.880A>G (p.Lys294Glu)
|
rs879254703
|
|
NM_000527.5(LDLR):c.887G>A (p.Cys296Tyr)
|
rs879254707
|
|
NM_000527.5(LDLR):c.901G>T (p.Asp301Tyr)
|
rs879254713
|
|
NM_000527.5(LDLR):c.902A>G (p.Asp301Gly)
|
|
|
NM_000527.5(LDLR):c.905del (p.Cys302fs)
|
rs1057516130
|
|
NM_000527.5(LDLR):c.906C>G (p.Cys302Trp)
|
rs879254716
|
|
NM_000527.5(LDLR):c.910G>C (p.Asp304His)
|
rs121908030
|
|
NM_000527.5(LDLR):c.910G>T (p.Asp304Tyr)
|
rs121908030
|
|
NM_000527.5(LDLR):c.912C>G (p.Asp304Glu)
|
rs875989909
|
|
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.917C>T (p.Ser306Leu)
|
rs11547917
|
|
NM_000527.5(LDLR):c.919G>C (p.Asp307His)
|
rs879254719
|
|
NM_000527.5(LDLR):c.920A>G (p.Asp307Gly)
|
rs1555803908
|
|
NM_000527.5(LDLR):c.921T>G (p.Asp307Glu)
|
rs879254720
|
|
NM_000527.5(LDLR):c.922G>A (p.Glu308Lys)
|
rs879254721
|
|
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.938_939delinsAT (p.Cys313Tyr)
|
rs875989910
|
|
NM_000527.5(LDLR):c.939C>G (p.Cys313Trp)
|
rs13306512
|
|
NM_000527.5(LDLR):c.940+1G>C
|
rs879254729
|
|
NM_000527.5(LDLR):c.940+2T>A
|
rs875989912
|
|
NM_000527.5(LDLR):c.940+2T>C
|
rs875989912
|
|
NM_000527.5(LDLR):c.940+3_940+6del
|
rs2077315885
|
|
NM_000527.5(LDLR):c.941-12G>A
|
rs879254734
|
|
NM_000527.5(LDLR):c.941-1G>A
|
rs879254735
|
|
NM_000527.5(LDLR):c.941-2A>C
|
rs112366278
|
|
NM_000527.5(LDLR):c.941-2A>G
|
rs112366278
|
|
NM_000527.5(LDLR):c.953G>T (p.Cys318Phe)
|
|
|
NM_000527.5(LDLR):c.95T>G (p.Phe32Cys)
|
rs879254403
|
|
NM_000527.5(LDLR):c.961AAC[1] (p.Asn322del)
|
|
|
NM_000527.5(LDLR):c.965A>T (p.Asn322Ile)
|
rs879254742
|
|
NM_000527.5(LDLR):c.967G>T (p.Gly323Cys)
|
rs373869746
|
|
NM_000527.5(LDLR):c.974G>A (p.Cys325Tyr)
|
rs879254746
|
|
NM_000527.5(LDLR):c.977C>G (p.Ser326Cys)
|
|
|
NM_000527.5(LDLR):c.985T>C (p.Cys329Arg)
|
rs879254749
|
|
NM_000527.5(LDLR):c.985T>G (p.Cys329Gly)
|
rs879254749
|
|
NM_000527.5:c.(190+1_191-1)_(817+1_818-1)dup
|
|
|
Single allele
|
|
|
c.(1060+1_1061-1)_(1186+1_1187-1)del
|
|
|