|
NM_000384.3(APOB):c.8148C>T (p.Ile2716=)
|
rs6413458
|
0.02288
|
|
NC_000019.10:g.11089281G>T
|
rs17249134
|
0.00679
|
|
NM_000384.3(APOB):c.10131G>A (p.Leu3377=)
|
rs1799812
|
0.00564
|
|
NM_000527.5(LDLR):c.1920C>T (p.Asn640=)
|
rs5926
|
0.00319
|
|
NM_000527.5(LDLR):c.58G>A (p.Gly20Arg)
|
rs147509697
|
0.00053
|
|
NM_000527.5(LDLR):c.1977C>A (p.Thr659=)
|
rs72658866
|
0.00032
|
|
NM_000384.3(APOB):c.2853G>A (p.Glu951=)
|
rs151193347
|
0.00031
|
|
NM_000527.5(LDLR):c.507C>T (p.Asn169=)
|
rs146354103
|
0.00029
|
|
NM_000527.5(LDLR):c.2101G>A (p.Gly701Ser)
|
rs368838866
|
0.00012
|
|
NM_000384.3(APOB):c.10579C>T (p.Arg3527Trp)
|
rs144467873
|
0.00006
|
|
NM_000527.5(LDLR):c.2282C>T (p.Thr761Met)
|
rs138477254
|
0.00006
|
|
NM_000527.5(LDLR):c.1444G>A (p.Asp482Asn)
|
rs139624145
|
0.00004
|
|
NM_000527.5(LDLR):c.590G>A (p.Cys197Tyr)
|
rs376459828
|
0.00004
|
|
NM_000527.5(LDLR):c.1247G>A (p.Arg416Gln)
|
rs773658037
|
0.00003
|
|
NM_000527.5(LDLR):c.2375T>C (p.Ile792Thr)
|
rs764493597
|
0.00003
|
|
NM_000527.5(LDLR):c.514G>A (p.Asp172Asn)
|
rs879254554
|
0.00003
|
|
NM_000527.5(LDLR):c.862G>A (p.Glu288Lys)
|
rs368657165
|
0.00003
|
|
NM_000527.5(LDLR):c.-23A>C
|
rs763282380
|
0.00002
|
|
NM_000527.5(LDLR):c.1510A>G (p.Lys504Glu)
|
rs730882103
|
0.00002
|
|
NM_000527.5(LDLR):c.1720C>T (p.Arg574Cys)
|
rs185098634
|
0.00002
|
|
NC_000019.10:g.11089429C>T
|
rs875989886
|
0.00001
|
|
NM_000384.3(APOB):c.10588G>A (p.Val3530Met)
|
rs200184366
|
0.00001
|
|
NM_000527.5(LDLR):c.1055G>A (p.Cys352Tyr)
|
rs193922566
|
0.00001
|
|
NM_000527.5(LDLR):c.1133A>C (p.Gln378Pro)
|
rs730882098
|
0.00001
|
|
NM_000527.5(LDLR):c.118A>G (p.Ile40Val)
|
rs765969972
|
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.1359-1G>A
|
rs139617694
|
0.00001
|
|
NM_000527.5(LDLR):c.1661C>T (p.Ser554Leu)
|
rs879254976
|
0.00001
|
|
NM_000527.5(LDLR):c.1691A>G (p.Asn564Ser)
|
rs758194385
|
0.00001
|
|
NM_000527.5(LDLR):c.1898G>A (p.Arg633His)
|
rs754536745
|
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.1981C>A (p.Pro661Thr)
|
rs1182317785
|
0.00001
|
|
NM_000527.5(LDLR):c.2448G>C (p.Lys816Asn)
|
rs1399689294
|
0.00001
|
|
NM_000527.5(LDLR):c.301G>A (p.Glu101Lys)
|
rs144172724
|
0.00001
|
|
NM_000527.5(LDLR):c.337G>A (p.Glu113Lys)
|
rs769383881
|
0.00001
|
|
NM_000527.5(LDLR):c.429C>A (p.Cys143Ter)
|
rs199774121
|
0.00001
|
|
NM_000527.5(LDLR):c.48C>A (p.Leu16=)
|
rs565675103
|
0.00001
|
|
NM_000527.5(LDLR):c.502G>A (p.Asp168Asn)
|
rs200727689
|
0.00001
|
|
NM_000527.5(LDLR):c.782G>T (p.Cys261Phe)
|
rs121908040
|
0.00001
|
|
NM_000527.5(LDLR):c.796G>A (p.Asp266Asn)
|
rs875989907
|
0.00001
|
|
NM_000527.5(LDLR):c.889A>C (p.Asn297His)
|
rs879254709
|
0.00001
|
|
NM_000527.5(LDLR):c.898A>G (p.Arg300Gly)
|
rs767618089
|
0.00001
|
|
NM_000527.5(LDLR):c.938G>A (p.Cys313Tyr)
|
rs875989911
|
0.00001
|
|
FH Bologna 2
|
|
|
|
FH Cape Town 2
|
|
|
|
FH London 1
|
|
|
|
FH Vancouver 4
|
|
|
|
NC_000019.10:g.11089321G>C
|
|
|
|
NC_000019.10:g.11089394_11089395delinsTTCTGCAAACTCCT
|
rs879254365
|
|
|
NC_000019.10:g.11089409C>G
|
rs875989887
|
|
|
NC_000019.10:g.11089413C>G
|
rs879254374
|
|
|
NC_000019.10:g.11089414C>G
|
|
|
|
NM_000384.3(APOB):c.10294C>G (p.Gln3432Glu)
|
|
|
|
NM_000384.3(APOB):c.10580G>A (p.Arg3527Gln)
|
|
|
|
NM_000384.3(APOB):c.10672C>T (p.Arg3558Cys)
|
|
|
|
NM_000384.3(APOB):c.12382G>A (p.Val4128Met)
|
|
|
|
NM_000384.3(APOB):c.12940A>G (p.Ile4314Val)
|
|
|
|
NM_000527.4(LDLR):c.1061-?_1586+?del
|
|
|
|
NM_000527.4(LDLR):c.1187-?_1586+?del
|
|
|
|
NM_000527.4(LDLR):c.1187-?_1845+?del
|
|
|
|
NM_000527.4(LDLR):c.1359-?_1586+?del
|
|
|
|
NM_000527.4(LDLR):c.1587-?_1845+?del
|
|
|
|
NM_000527.4(LDLR):c.1587-?_2140+?del
|
|
|
|
NM_000527.4(LDLR):c.1587-?_2311+?del
|
|
|
|
NM_000527.4(LDLR):c.1690A>C (p.Asn564His)
|
|
|
|
NM_000527.4(LDLR):c.1706-?_1845+?del
|
|
|
|
NM_000527.4(LDLR):c.1706-?_2311+?del
|
|
|
|
NM_000527.4(LDLR):c.1846-?_1987+?del
|
|
|
|
NM_000527.4(LDLR):c.1846-?_2311+?del
|
|
|
|
NM_000527.4(LDLR):c.191-?_313+?dup
|
|
|
|
NM_000527.4(LDLR):c.191-?_940+?del
|
|
|
|
NM_000527.4(LDLR):c.2141-?_2311+?del
|
|
|
|
NM_000527.4(LDLR):c.2312-?_*2514del
|
|
|
|
NM_000527.4(LDLR):c.2312-?_2389+?del
|
|
|
|
NM_000527.4(LDLR):c.2312-?_2547+?del
|
|
|
|
NM_000527.4(LDLR):c.2390-?_2547+?del
|
|
|
|
NM_000527.4(LDLR):c.313+1G>A
|
|
|
|
NM_000527.4(LDLR):c.314-?_940+?del
|
|
|
|
NM_000527.4(LDLR):c.694+2T>C
|
rs200238879
|
|
|
NM_000527.4(LDLR):c.695-?_817+?del
|
|
|
|
NM_000527.4(LDLR):c.818-?_940+?del
|
|
|
|
NM_000527.4(LDLR):c.941-?_1060+?del
|
|
|
|
NM_000527.4(LDLR):c.941-?_1586+?del
|
|
|
|
NM_000527.4(LDLR):c.941-?_1586+?dup
|
|
|
|
NM_000527.4(LDLR):c.941-?_1705+?dup
|
|
|
|
NM_000527.4(LDLR):c.941-?_1845+?del
|
|
|
|
NM_000527.4(LDLR):c.941-?_1845+?dup
|
|
|
|
NM_000527.5(LDLR):c.1004G>T (p.Gly335Val)
|
rs869320650
|
|
|
NM_000527.5(LDLR):c.1008C>A (p.Tyr336Ter)
|
rs767024374
|
|
|
NM_000527.5(LDLR):c.1013G>T (p.Cys338Phe)
|
rs879254754
|
|
|
NM_000527.5(LDLR):c.1019G>A (p.Cys340Tyr)
|
rs755757866
|
|
|
NM_000527.5(LDLR):c.1027G>A (p.Gly343Ser)
|
|
|
|
NM_000527.5(LDLR):c.1045C>T (p.Gln349Ter)
|
rs748300548
|
|
|
NM_000527.5(LDLR):c.1045del (p.Gln349fs)
|
rs879254765
|
|
|
NM_000527.5(LDLR):c.1046dup (p.Arg350fs)
|
rs1555804545
|
|
|
NM_000527.5(LDLR):c.1048C>T (p.Arg350Ter)
|
|
|
|
NM_000527.5(LDLR):c.1054T>C (p.Cys352Arg)
|
rs879254769
|
|
|
NM_000527.5(LDLR):c.1060+10G>A
|
|
|
|
NM_000527.5(LDLR):c.1061-8T>C
|
|
|
|
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.1067del (p.Asp356fs)
|
rs879254778
|
|
|
NM_000527.5(LDLR):c.108del (p.Asp36fs)
|
rs879254409
|
|
|
NM_000527.5(LDLR):c.1103G>A (p.Cys368Tyr)
|
|
|
|
NM_000527.5(LDLR):c.1118G>A (p.Gly373Asp)
|
|
|
|
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.114dup (p.Cys39fs)
|
rs879254410
|
|
|
NM_000527.5(LDLR):c.1156G>T (p.Asp386Tyr)
|
rs1402951356
|
|
|
NM_000527.5(LDLR):c.1176C>A (p.Cys392Ter)
|
|
|
|
NM_000527.5(LDLR):c.117del (p.Lys38_Cys39insTer)
|
rs879254412
|
|
|
NM_000527.5(LDLR):c.1186+5G>A
|
rs879254821
|
|
|
NM_000527.5(LDLR):c.1187-10G>A
|
|
|
|
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.1200C>A (p.Tyr400Ter)
|
rs879254827
|
|
|
NM_000527.5(LDLR):c.1208del (p.Phe403fs)
|
rs879254832
|
|
|
NM_000527.5(LDLR):c.1216C>T (p.Arg406Trp)
|
|
|
|
NM_000527.5(LDLR):c.1246C>T (p.Arg416Trp)
|
|
|
|
NM_000527.5(LDLR):c.1285G>A (p.Val429Met)
|
|
|
|
NM_000527.5(LDLR):c.1291G>A (p.Ala431Thr)
|
|
|
|
NM_000527.5(LDLR):c.1297G>C (p.Asp433His)
|
rs121908036
|
|
|
NM_000527.5(LDLR):c.12G>A (p.Trp4Ter)
|
rs756039188
|
|
|
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>T (p.Trp44Leu)
|
rs267607213
|
|
|
NM_000527.5(LDLR):c.1326C>G (p.Tyr442Ter)
|
rs879254865
|
|
|
NM_000527.5(LDLR):c.1328G>C (p.Trp443Ser)
|
rs879254866
|
|
|
NM_000527.5(LDLR):c.1329G>A (p.Trp443Ter)
|
rs879254867
|
|
|
NM_000527.5(LDLR):c.1336del (p.Leu446fs)
|
rs879254868
|
|
|
NM_000527.5(LDLR):c.1342C>T (p.Gln448Ter)
|
|
|
|
NM_000527.5(LDLR):c.1358+1G>A
|
rs775924858
|
|
|
NM_000527.5(LDLR):c.1359-1G>C
|
rs139617694
|
|
|
NM_000527.5(LDLR):c.1359-27T>G
|
rs1555805318
|
|
|
NM_000527.5(LDLR):c.1361C>A (p.Thr454Asn)
|
rs879254879
|
|
|
NM_000527.5(LDLR):c.140_153del (p.Asp47fs)
|
rs1555802291
|
|
|
NM_000527.5(LDLR):c.1423_1424delinsA (p.Ala475fs)
|
rs879254896
|
|
|
NM_000527.5(LDLR):c.1432G>A (p.Gly478Arg)
|
|
|
|
NM_000527.5(LDLR):c.1434del (p.Leu479fs)
|
rs879254899
|
|
|
NM_000527.5(LDLR):c.1436T>C (p.Leu479Pro)
|
rs879254900
|
|
|
NM_000527.5(LDLR):c.1448G>A (p.Trp483Ter)
|
rs875989921
|
|
|
NM_000527.5(LDLR):c.1474G>A (p.Asp492Asn)
|
|
|
|
NM_000527.5(LDLR):c.1475A>G (p.Asp492Gly)
|
rs879254918
|
|
|
NM_000527.5(LDLR):c.148G>T (p.Ala50Ser)
|
rs137853960
|
|
|
NM_000527.5(LDLR):c.1498_1499del (p.Val500fs)
|
rs879254923
|
|
|
NM_000527.5(LDLR):c.1502dup (p.Asp502fs)
|
rs879254924
|
|
|
NM_000527.5(LDLR):c.1567G>A (p.Val523Met)
|
|
|
|
NM_000527.5(LDLR):c.1585G>C (p.Gly529Arg)
|
|
|
|
NM_000527.5(LDLR):c.1586+5G>A
|
rs781362878
|
|
|
NM_000527.5(LDLR):c.1587-5_1618del
|
rs1555805930
|
|
|
NM_000527.5(LDLR):c.1596C>G (p.Tyr532Ter)
|
rs1555805947
|
|
|
NM_000527.5(LDLR):c.1599G>A (p.Trp533Ter)
|
rs879254952
|
|
|
NM_000527.5(LDLR):c.1607G>A (p.Trp536Ter)
|
rs879254957
|
|
|
NM_000527.5(LDLR):c.1609G>T (p.Gly537Ter)
|
rs879254958
|
|
|
NM_000527.5(LDLR):c.1618G>A (p.Ala540Thr)
|
|
|
|
NM_000527.5(LDLR):c.1646G>A (p.Gly549Asp)
|
|
|
|
NM_000527.5(LDLR):c.1664T>C (p.Leu555Pro)
|
rs879254978
|
|
|
NM_000527.5(LDLR):c.1686G>A (p.Trp562Ter)
|
rs879254985
|
|
|
NM_000527.5(LDLR):c.1705+1del
|
rs879254992
|
|
|
NM_000527.5(LDLR):c.1706-10G>A
|
|
|
|
NM_000527.5(LDLR):c.1706-2A>C
|
rs878854027
|
|
|
NM_000527.5(LDLR):c.1721G>A (p.Arg574His)
|
|
|
|
NM_000527.5(LDLR):c.1729T>G (p.Trp577Gly)
|
rs879255000
|
|
|
NM_000527.5(LDLR):c.1730G>A (p.Trp577Ter)
|
rs138947766
|
|
|
NM_000527.5(LDLR):c.1749C>G (p.His583Gln)
|
rs879255009
|
|
|
NM_000527.5(LDLR):c.1750T>C (p.Ser584Pro)
|
rs879255010
|
|
|
NM_000527.5(LDLR):c.1757C>G (p.Ser586Ter)
|
rs1555806455
|
|
|
NM_000527.5(LDLR):c.1765G>T (p.Asp589Tyr)
|
rs201971888
|
|
|
NM_000527.5(LDLR):c.1775G>A (p.Gly592Glu)
|
|
|
|
NM_000527.5(LDLR):c.1778del (p.Gly593fs)
|
rs875989931
|
|
|
NM_000527.5(LDLR):c.1783C>T (p.Arg595Trp)
|
|
|
|
NM_000527.5(LDLR):c.1796T>C (p.Leu599Ser)
|
rs879255025
|
|
|
NM_000527.5(LDLR):c.1800G>C (p.Glu600Asp)
|
|
|
|
NM_000527.5(LDLR):c.1814T>C (p.Leu605Pro)
|
rs875989932
|
|
|
NM_000527.5(LDLR):c.1815_1825del (p.Ala606fs)
|
rs879255032
|
|
|
NM_000527.5(LDLR):c.1845+1G>C
|
|
|
|
NM_000527.5(LDLR):c.185C>T (p.Thr62Met)
|
|
|
|
NM_000527.5(LDLR):c.1865A>G (p.Asp622Gly)
|
rs879255060
|
|
|
NM_000527.5(LDLR):c.1868TCA[1] (p.Ile624del)
|
|
|
|
NM_000527.5(LDLR):c.1878del (p.Ala627fs)
|
rs1057516134
|
|
|
NM_000527.5(LDLR):c.187T>C (p.Cys63Arg)
|
rs879254426
|
|
|
NM_000527.5(LDLR):c.188G>A (p.Cys63Tyr)
|
rs879254427
|
|
|
NM_000527.5(LDLR):c.1897C>T (p.Arg633Cys)
|
|
|
|
NM_000527.5(LDLR):c.191-2A>G
|
rs544203837
|
|
|
NM_000527.5(LDLR):c.191-2delinsCT
|
rs879254432
|
|
|
NM_000527.5(LDLR):c.1946C>T (p.Pro649Leu)
|
rs879255081
|
|
|
NM_000527.5(LDLR):c.1965C>G (p.Phe655Leu)
|
rs879255090
|
|
|
NM_000527.5(LDLR):c.1988-2A>T
|
rs879255101
|
|
|
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.2011del (p.Thr671fs)
|
rs1555807356
|
|
|
NM_000527.5(LDLR):c.2026G>A (p.Gly676Ser)
|
rs745753810
|
|
|
NM_000527.5(LDLR):c.2032C>T (p.Gln678Ter)
|
rs879255114
|
|
|
NM_000527.5(LDLR):c.2043C>A (p.Cys681Ter)
|
|
|
|
NM_000527.5(LDLR):c.2054C>A (p.Pro685Gln)
|
rs28942084
|
|
|
NM_000527.5(LDLR):c.2054C>T (p.Pro685Leu)
|
|
|
|
NM_000527.5(LDLR):c.2063dup (p.Asn688fs)
|
rs879255128
|
|
|
NM_000527.5(LDLR):c.2085_2103del (p.Ala697fs)
|
rs879255133
|
|
|
NM_000527.5(LDLR):c.2086T>C (p.Cys696Arg)
|
rs1555807435
|
|
|
NM_000527.5(LDLR):c.2093G>A (p.Cys698Tyr)
|
|
|
|
NM_000527.5(LDLR):c.2096C>T (p.Pro699Leu)
|
|
|
|
NM_000527.5(LDLR):c.2099A>G (p.Asp700Gly)
|
rs879255139
|
|
|
NM_000527.5(LDLR):c.2119G>T (p.Asp707Tyr)
|
rs879255142
|
|
|
NM_000527.5(LDLR):c.2140+1G>A
|
rs145787161
|
|
|
NM_000527.5(LDLR):c.2140+5G>A
|
|
|
|
NM_000527.5(LDLR):c.214del (p.Asp72fs)
|
rs879254438
|
|
|
NM_000527.5(LDLR):c.2177C>T (p.Thr726Ile)
|
|
|
|
NM_000527.5(LDLR):c.2184del (p.Arg728fs)
|
rs879255157
|
|
|
NM_000527.5(LDLR):c.2207dup (p.Arg737fs)
|
rs879255164
|
|
|
NM_000527.5(LDLR):c.2266del (p.Thr756fs)
|
rs879255169
|
|
|
NM_000527.5(LDLR):c.2270del (p.Pro757fs)
|
rs1131692223
|
|
|
NM_000527.5(LDLR):c.2279C>T (p.Thr760Ile)
|
rs1555808147
|
|
|
NM_000527.5(LDLR):c.2282_2309del (p.Thr761fs)
|
rs1555808143
|
|
|
NM_000527.5(LDLR):c.2311+2T>G
|
rs879255176
|
|
|
NM_000527.5(LDLR):c.232del (p.Arg78fs)
|
rs879254442
|
|
|
NM_000527.5(LDLR):c.2360T>A (p.Val787Glu)
|
rs879255182
|
|
|
NM_000527.5(LDLR):c.2389+3A>C
|
rs879255189
|
|
|
NM_000527.5(LDLR):c.2389+4A>G
|
rs758493597
|
|
|
NM_000527.5(LDLR):c.2389G>A (p.Val797Met)
|
|
|
|
NM_000527.5(LDLR):c.2390-1G>A
|
rs879255193
|
|
|
NM_000527.5(LDLR):c.2390-1G>C
|
rs879255193
|
|
|
NM_000527.5(LDLR):c.2390-2A>G
|
rs767790696
|
|
|
NM_000527.5(LDLR):c.2397_2405del (p.Val800_Leu802del)
|
|
|
|
NM_000527.5(LDLR):c.2399_2403delinsGGGT (p.Val800fs)
|
rs879255198
|
|
|
NM_000527.5(LDLR):c.240C>A (p.Asn80Lys)
|
rs879254444
|
|
|
NM_000527.5(LDLR):c.2416dup (p.Val806fs)
|
|
|
|
NM_000527.5(LDLR):c.241C>T (p.Arg81Cys)
|
|
|
|
NM_000527.5(LDLR):c.2439G>A (p.Trp813Ter)
|
rs121908032
|
|
|
NM_000527.5(LDLR):c.2475C>A (p.Asn825Lys)
|
rs374045590
|
|
|
NM_000527.5(LDLR):c.2544dup (p.Ser849fs)
|
rs879255222
|
|
|
NM_000527.5(LDLR):c.261G>A (p.Trp87Ter)
|
rs199570811
|
|
|
NM_000527.5(LDLR):c.261_262delinsAG (p.Trp87_Arg88delinsTer)
|
rs879254453
|
|
|
NM_000527.5(LDLR):c.267C>G (p.Cys89Trp)
|
rs777640882
|
|
|
NM_000527.5(LDLR):c.274C>G (p.Gln92Glu)
|
rs774467219
|
|
|
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.2T>C (p.Met1Thr)
|
rs1555800701
|
|
|
NM_000527.5(LDLR):c.313+1G>C
|
rs112029328
|
|
|
NM_000527.5(LDLR):c.313+2dup
|
rs875989897
|
|
|
NM_000527.5(LDLR):c.313+5G>A
|
|
|
|
NM_000527.5(LDLR):c.338_353del (p.Glu113fs)
|
rs879254480
|
|
|
NM_000527.5(LDLR):c.33_36dup (p.Ala13fs)
|
rs879254387
|
|
|
NM_000527.5(LDLR):c.346T>C (p.Cys116Arg)
|
rs879254482
|
|
|
NM_000527.5(LDLR):c.361T>C (p.Cys121Arg)
|
rs879254492
|
|
|
NM_000527.5(LDLR):c.362G>A (p.Cys121Tyr)
|
rs193922571
|
|
|
NM_000527.5(LDLR):c.362_376del (p.Cys121_Gln125del)
|
rs1555803186
|
|
|
NM_000527.5(LDLR):c.418G>A (p.Glu140Lys)
|
|
|
|
NM_000527.5(LDLR):c.428G>C (p.Cys143Ser)
|
rs879254522
|
|
|
NM_000527.5(LDLR):c.440_450dup (p.Ala151fs)
|
rs1555803254
|
|
|
NM_000527.5(LDLR):c.442T>C (p.Cys148Arg)
|
rs879254525
|
|
|
NM_000527.5(LDLR):c.44T>C (p.Leu15Pro)
|
rs879254390
|
|
|
NM_000527.5(LDLR):c.451_453del (p.Ala151del)
|
rs879254531
|
|
|
NM_000527.5(LDLR):c.460C>T (p.Gln154Ter)
|
rs879254534
|
|
|
NM_000527.5(LDLR):c.464G>A (p.Cys155Tyr)
|
rs879254536
|
|
|
NM_000527.5(LDLR):c.470G>A (p.Ser157Asn)
|
rs1555803280
|
|
|
NM_000527.5(LDLR):c.479G>T (p.Cys160Phe)
|
rs879254541
|
|
|
NM_000527.5(LDLR):c.47T>C (p.Leu16Pro)
|
rs879254391
|
|
|
NM_000527.5(LDLR):c.513dup (p.Asp172fs)
|
rs879254552
|
|
|
NM_000527.5(LDLR):c.518del (p.Cys173fs)
|
rs879254559
|
|
|
NM_000527.5(LDLR):c.519C>A (p.Cys173Ter)
|
rs769318035
|
|
|
NM_000527.5(LDLR):c.530C>T (p.Ser177Leu)
|
|
|
|
NM_000527.5(LDLR):c.532G>A (p.Asp178Asn)
|
rs879254565
|
|
|
NM_000527.5(LDLR):c.533A>G (p.Asp178Gly)
|
rs875989902
|
|
|
NM_000527.5(LDLR):c.550T>C (p.Cys184Arg)
|
rs879254572
|
|
|
NM_000527.5(LDLR):c.564C>A (p.Tyr188Ter)
|
rs121908034
|
|
|
NM_000527.5(LDLR):c.593C>A (p.Ser198Ter)
|
rs748672083
|
|
|
NM_000527.5(LDLR):c.626G>A (p.Cys209Tyr)
|
rs879254600
|
|
|
NM_000527.5(LDLR):c.646T>C (p.Cys216Arg)
|
rs879254610
|
|
|
NM_000527.5(LDLR):c.647G>A (p.Cys216Tyr)
|
rs879254611
|
|
|
NM_000527.5(LDLR):c.661G>T (p.Asp221Tyr)
|
rs875989906
|
|
|
NM_000527.5(LDLR):c.662A>G (p.Asp221Gly)
|
|
|
|
NM_000527.5(LDLR):c.662A>T (p.Asp221Val)
|
rs373822756
|
|
|
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.665G>T (p.Cys222Phe)
|
rs730882086
|
|
|
NM_000527.5(LDLR):c.67+1G>T
|
rs762417023
|
|
|
NM_000527.5(LDLR):c.670G>A (p.Asp224Asn)
|
rs387906303
|
|
|
NM_000527.5(LDLR):c.671_675del (p.Asp224fs)
|
rs1555803455
|
|
|
NM_000527.5(LDLR):c.672_683dup (p.Asp224_Asp227dup)
|
rs1555803414
|
|
|
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.677C>G (p.Ser226Cys)
|
rs879254636
|
|
|
NM_000527.5(LDLR):c.681_682insTCAGGGAAACCCGACTGC (p.Asp227_Glu228insSerGlyLysProAspCys)
|
rs1555803471
|
|
|
NM_000527.5(LDLR):c.682G>A (p.Glu228Lys)
|
|
|
|
NM_000527.5(LDLR):c.682delinsTCAAGGAAACCCGACTGCA (p.Glu228delinsSerArgLysProAspCysLys)
|
rs879254641
|
|
|
NM_000527.5(LDLR):c.706T>A (p.Cys236Ser)
|
rs879254655
|
|
|
NM_000527.5(LDLR):c.737G>A (p.Gly246Glu)
|
rs879254661
|
|
|
NM_000527.5(LDLR):c.769C>T (p.Arg257Trp)
|
|
|
|
NM_000527.5(LDLR):c.800A>C (p.Glu267Ala)
|
rs879254680
|
|
|
NM_000527.5(LDLR):c.806G>A (p.Gly269Asp)
|
|
|
|
NM_000527.5(LDLR):c.817+2T>G
|
rs879254686
|
|
|
NM_000527.5(LDLR):c.81C>A (p.Cys27Ter)
|
rs2228671
|
|
|
NM_000527.5(LDLR):c.81C>G (p.Cys27Trp)
|
|
|
|
NM_000527.5(LDLR):c.826T>G (p.Cys276Gly)
|
rs879254692
|
|
|
NM_000527.5(LDLR):c.828C>A (p.Cys276Ter)
|
rs146651743
|
|
|
NM_000527.5(LDLR):c.835C>T (p.Pro279Ser)
|
rs1555803827
|
|
|
NM_000527.5(LDLR):c.866G>A (p.Cys289Tyr)
|
rs1555803865
|
|
|
NM_000527.5(LDLR):c.874del (p.Leu292fs)
|
rs879254700
|
|
|
NM_000527.5(LDLR):c.884del (p.Val295fs)
|
rs879254705
|
|
|
NM_000527.5(LDLR):c.890A>C (p.Asn297Thr)
|
rs1555803887
|
|
|
NM_000527.5(LDLR):c.890A>G (p.Asn297Ser)
|
rs1555803887
|
|
|
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.902A>G (p.Asp301Gly)
|
|
|
|
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.916_919dup (p.Asp307fs)
|
rs879254718
|
|
|
NM_000527.5(LDLR):c.917C>T (p.Ser306Leu)
|
rs11547917
|
|
|
NM_000527.5(LDLR):c.919G>T (p.Asp307Tyr)
|
rs879254719
|
|
|
NM_000527.5(LDLR):c.91G>T (p.Glu31Ter)
|
rs776421777
|
|
|
NM_000527.5(LDLR):c.91_104del (p.Glu31fs)
|
rs1555802259
|
|
|
NM_000527.5(LDLR):c.928dup (p.Ile310fs)
|
rs1555803912
|
|
|
NM_000527.5(LDLR):c.934G>T (p.Glu312Ter)
|
rs879254725
|
|
|
NM_000527.5(LDLR):c.937T>C (p.Cys313Arg)
|
rs879254728
|
|
|
NM_000527.5(LDLR):c.941-39C>T
|
|
|
|
NM_000527.5(LDLR):c.953G>T (p.Cys318Phe)
|
|
|
|
NM_000527.5(LDLR):c.969del (p.Gly324fs)
|
rs879254744
|
|
|
NM_000527.5(LDLR):c.974G>A (p.Cys325Tyr)
|
rs879254746
|
|
|
NM_000527.5(LDLR):c.97C>T (p.Gln33Ter)
|
|
|
|
NM_000527.5(LDLR):c.987C>A (p.Cys329Ter)
|
rs1555804467
|
|
|
NM_000527.5(LDLR):c.987C>G (p.Cys329Trp)
|
rs1555804467
|
|
|
NM_000527.5(LDLR):c.9del (p.Trp4fs)
|
rs879254384
|
|
|
NM_174936.4(PCSK9):c.137G>T (p.Arg46Leu)
|
|
|
|
Single allele
|
|
|
|
c.(?_-187)_(190+1_191-1)del
|
|
|