NM_000527.5(LDLR):c.*13A>G
|
rs72658871
|
0.00255
|
NM_000527.5(LDLR):c.1816G>T (p.Ala606Ser)
|
rs72658865
|
0.00016
|
NM_000527.5(LDLR):c.2106G>A (p.Met702Ile)
|
rs140731590
|
0.00011
|
NM_000527.5(LDLR):c.1026C>G (p.Asp342Glu)
|
rs780563386
|
0.00006
|
NM_000527.5(LDLR):c.2282C>T (p.Thr761Met)
|
rs138477254
|
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.710G>A (p.Arg237His)
|
rs148171426
|
0.00005
|
NM_000527.5(LDLR):c.1003G>A (p.Gly335Ser)
|
rs544453230
|
0.00004
|
NM_000527.5(LDLR):c.1358+7G>A
|
rs369709333
|
0.00004
|
NM_000527.5(LDLR):c.1402G>A (p.Val468Ile)
|
rs5932
|
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.1747C>T (p.His583Tyr)
|
rs730882109
|
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.862G>A (p.Glu288Lys)
|
rs368657165
|
0.00003
|
NM_000527.5(LDLR):c.986G>A (p.Cys329Tyr)
|
rs761954844
|
0.00003
|
NM_000527.5(LDLR):c.1166C>T (p.Thr389Met)
|
rs149227308
|
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
|
NM_000527.5(LDLR):c.1765G>A (p.Asp589Asn)
|
rs201971888
|
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.1153C>G (p.Leu385Val)
|
rs879254808
|
0.00001
|
NM_000527.5(LDLR):c.1186+5G>C
|
rs879254821
|
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.1329G>C (p.Trp443Cys)
|
rs879254867
|
0.00001
|
NM_000527.5(LDLR):c.1414G>T (p.Asp472Tyr)
|
rs730882102
|
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.1845G>A (p.Glu615=)
|
rs879255047
|
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.211G>A (p.Gly71Arg)
|
rs766903209
|
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.2206G>A (p.Val736Ile)
|
rs547268730
|
0.00001
|
NM_000527.5(LDLR):c.2346G>C (p.Lys782Asn)
|
rs1057519688
|
0.00001
|
NM_000527.5(LDLR):c.2548-12A>G
|
rs771336748
|
0.00001
|
NM_000527.5(LDLR):c.259T>G (p.Trp87Gly)
|
rs121908025
|
0.00001
|
NM_000527.5(LDLR):c.301G>A (p.Glu101Lys)
|
rs144172724
|
0.00001
|
NM_000527.5(LDLR):c.352G>T (p.Asp118Tyr)
|
rs730882080
|
0.00001
|
NM_000527.5(LDLR):c.429C>A (p.Cys143Ter)
|
rs199774121
|
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.664T>C (p.Cys222Arg)
|
rs577934998
|
0.00001
|
NM_000527.5(LDLR):c.772G>T (p.Glu258Ter)
|
rs879254672
|
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_000527.4(LDLR):c.(1586+1_1587-1)_(1845+1_1846-1)del
|
|
|
NM_000527.4(LDLR):c.-124dup
|
rs1057519649
|
|
NM_000527.4(LDLR):c.-135C>G
|
|
|
NM_000527.4(LDLR):c.-155_-150del
|
rs1057519648
|
|
NM_000527.4(LDLR):c.-168A>G
|
rs1057519647
|
|
NM_000527.4(LDLR):c.-99A>G
|
rs1057519650
|
|
NM_000527.4(LDLR):c.1690A>C (p.Asn564His)
|
|
|
NM_000527.4(LDLR):c.313+1G>A
|
|
|
NM_000527.4(LDLR):c.680_682delACGins14 (p.?)
|
|
|
NM_000527.4(LDLR):c.694+2T>C
|
rs200238879
|
|
NM_000527.5(LDLR):c.1007A>G (p.Tyr336Cys)
|
rs879254750
|
|
NM_000527.5(LDLR):c.1008C>A (p.Tyr336Ter)
|
rs767024374
|
|
NM_000527.5(LDLR):c.1008del (p.Gly335_Tyr336insTer)
|
rs879254751
|
|
NM_000527.5(LDLR):c.1019_1020delinsTG (p.Cys340Leu)
|
rs879254758
|
|
NM_000527.5(LDLR):c.1024G>A (p.Asp342Asn)
|
|
|
NM_000527.5(LDLR):c.1027G>A (p.Gly343Ser)
|
|
|
NM_000527.5(LDLR):c.1033C>T (p.Gln345Ter)
|
|
|
NM_000527.5(LDLR):c.1045C>T (p.Gln349Ter)
|
rs748300548
|
|
NM_000527.5(LDLR):c.1045del (p.Gln349fs)
|
rs879254765
|
|
NM_000527.5(LDLR):c.1048C>T (p.Arg350Ter)
|
|
|
NM_000527.5(LDLR):c.1056C>A (p.Cys352Ter)
|
rs13306515
|
|
NM_000527.5(LDLR):c.1056_1060+3del
|
rs879254770
|
|
NM_000527.5(LDLR):c.1060+10G>A
|
|
|
NM_000527.5(LDLR):c.1061-1G>A
|
rs879254774
|
|
NM_000527.5(LDLR):c.1061A>C (p.Asp354Ala)
|
rs755449669
|
|
NM_000527.5(LDLR):c.1067A>C (p.Asp356Ala)
|
rs879254777
|
|
NM_000527.5(LDLR):c.1069G>A (p.Glu357Lys)
|
rs879254781
|
|
NM_000527.5(LDLR):c.1073G>A (p.Cys358Tyr)
|
rs875989915
|
|
NM_000527.5(LDLR):c.1085del (p.Asp362fs)
|
rs879254786
|
|
NM_000527.5(LDLR):c.1103G>A (p.Cys368Tyr)
|
|
|
NM_000527.5(LDLR):c.1103G>C (p.Cys368Ser)
|
rs768430352
|
|
NM_000527.5(LDLR):c.1104C>A (p.Cys368Ter)
|
rs113669610
|
|
NM_000527.5(LDLR):c.1118G>A (p.Gly373Asp)
|
|
|
NM_000527.5(LDLR):c.1120_1123dup (p.Tyr375fs)
|
rs879254799
|
|
NM_000527.5(LDLR):c.1124A>G (p.Tyr375Cys)
|
rs879254800
|
|
NM_000527.5(LDLR):c.1135T>G (p.Cys379Gly)
|
rs879254803
|
|
NM_000527.5(LDLR):c.1150C>T (p.Gln384Ter)
|
rs879254805
|
|
NM_000527.5(LDLR):c.1158C>G (p.Asp386Glu)
|
rs879254810
|
|
NM_000527.5(LDLR):c.1171G>A (p.Ala391Thr)
|
|
|
NM_000527.5(LDLR):c.1176C>A (p.Cys392Ter)
|
|
|
NM_000527.5(LDLR):c.1187-10G>A
|
|
|
NM_000527.5(LDLR):c.1187del
|
|
|
NM_000527.5(LDLR):c.11G>A (p.Trp4Ter)
|
rs201016593
|
|
NM_000527.5(LDLR):c.1201C>G (p.Leu401Val)
|
|
|
NM_000527.5(LDLR):c.1204TTC[1] (p.Phe403del)
|
rs879254830
|
|
NM_000527.5(LDLR):c.1205T>C (p.Phe402Ser)
|
rs1057519668
|
|
NM_000527.5(LDLR):c.1215C>G (p.Asn405Lys)
|
rs879254837
|
|
NM_000527.5(LDLR):c.1216C>T (p.Arg406Trp)
|
|
|
NM_000527.5(LDLR):c.1231A>G (p.Lys411Glu)
|
rs879254840
|
|
NM_000527.5(LDLR):c.1246C>T (p.Arg416Trp)
|
|
|
NM_000527.5(LDLR):c.1256A>G (p.Tyr419Cys)
|
rs1057519669
|
|
NM_000527.5(LDLR):c.1257C>A (p.Tyr419Ter)
|
rs774439908
|
|
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.126C>G (p.Tyr42Ter)
|
rs751317621
|
|
NM_000527.5(LDLR):c.1285G>A (p.Val429Met)
|
|
|
NM_000527.5(LDLR):c.1288G>C (p.Val430Leu)
|
rs879254853
|
|
NM_000527.5(LDLR):c.1291G>A (p.Ala431Thr)
|
|
|
NM_000527.5(LDLR):c.1301C>G (p.Thr434Arg)
|
rs745343524
|
|
NM_000527.5(LDLR):c.1315A>T (p.Asn439Tyr)
|
rs1057519670
|
|
NM_000527.5(LDLR):c.131G>A (p.Trp44Ter)
|
rs267607213
|
|
NM_000527.5(LDLR):c.1323C>G (p.Ile441Met)
|
rs5933
|
|
NM_000527.5(LDLR):c.1328G>C (p.Trp443Ser)
|
rs879254866
|
|
NM_000527.5(LDLR):c.1330del (p.Ser444fs)
|
rs1057519671
|
|
NM_000527.5(LDLR):c.1342C>T (p.Gln448Ter)
|
|
|
NM_000527.5(LDLR):c.1343del (p.Gln448fs)
|
rs879254872
|
|
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.139G>A (p.Asp47Asn)
|
|
|
NM_000527.5(LDLR):c.1415_1418dup (p.Gln474fs)
|
rs879254892
|
|
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.1449G>A (p.Trp483Ter)
|
rs879254907
|
|
NM_000527.5(LDLR):c.1460A>G (p.Asn487Ser)
|
rs879254912
|
|
NM_000527.5(LDLR):c.1463T>A (p.Ile488Asn)
|
rs879254913
|
|
NM_000527.5(LDLR):c.1468T>C (p.Trp490Arg)
|
rs730880130
|
|
NM_000527.5(LDLR):c.1474G>A (p.Asp492Asn)
|
|
|
NM_000527.5(LDLR):c.1477_1479delinsAGAGACA (p.Ser493fs)
|
rs879254919
|
|
NM_000527.5(LDLR):c.1478_1479del (p.Ser493fs)
|
rs869025453
|
|
NM_000527.5(LDLR):c.1478del (p.Ser493fs)
|
rs1057519672
|
|
NM_000527.5(LDLR):c.1487G>T (p.Gly496Val)
|
rs751603969
|
|
NM_000527.5(LDLR):c.148G>T (p.Ala50Ser)
|
rs137853960
|
|
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.1529del (p.Thr510fs)
|
rs1057519673
|
|
NM_000527.5(LDLR):c.1546G>A (p.Gly516Ser)
|
|
|
NM_000527.5(LDLR):c.1549_1555del (p.Ser517fs)
|
rs879254935
|
|
NM_000527.5(LDLR):c.1555C>T (p.Pro519Ser)
|
rs875989923
|
|
NM_000527.5(LDLR):c.1567G>A (p.Val523Met)
|
|
|
NM_000527.5(LDLR):c.1571_1572del (p.Val524fs)
|
rs1057519674
|
|
NM_000527.5(LDLR):c.1585G>C (p.Gly529Arg)
|
|
|
NM_000527.5(LDLR):c.1586+1G>A
|
|
|
NM_000527.5(LDLR):c.1586+5G>A
|
rs781362878
|
|
NM_000527.5(LDLR):c.1587-2A>T
|
rs879254947
|
|
NM_000527.5(LDLR):c.1597T>C (p.Trp533Arg)
|
rs879254951
|
|
NM_000527.5(LDLR):c.1598G>A (p.Trp533Ter)
|
rs746939188
|
|
NM_000527.5(LDLR):c.1606T>G (p.Trp536Gly)
|
rs879254956
|
|
NM_000527.5(LDLR):c.1610del (p.Gly537fs)
|
rs879254959
|
|
NM_000527.5(LDLR):c.1618G>A (p.Ala540Thr)
|
|
|
NM_000527.5(LDLR):c.1632del (p.Gly546fs)
|
rs879254964
|
|
NM_000527.5(LDLR):c.1633G>A (p.Gly545Arg)
|
rs879254965
|
|
NM_000527.5(LDLR):c.1637G>A (p.Gly546Asp)
|
|
|
NM_000527.5(LDLR):c.1644T>G (p.Asn548Lys)
|
rs879254970
|
|
NM_000527.5(LDLR):c.1646G>A (p.Gly549Asp)
|
|
|
NM_000527.5(LDLR):c.1681C>T (p.Gln561Ter)
|
rs879254981
|
|
NM_000527.5(LDLR):c.1687C>T (p.Pro563Ser)
|
rs879254986
|
|
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.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.1705+1G>T
|
rs875989926
|
|
NM_000527.5(LDLR):c.1705+2_1705+3insC
|
rs879254994
|
|
NM_000527.5(LDLR):c.1705G>A (p.Asp569Asn)
|
rs879254993
|
|
NM_000527.5(LDLR):c.1705G>T (p.Asp569Tyr)
|
rs879254993
|
|
NM_000527.5(LDLR):c.1706-10G>A
|
|
|
NM_000527.5(LDLR):c.1706-2A>T
|
rs878854027
|
|
NM_000527.5(LDLR):c.1718del (p.Gly573fs)
|
rs879254998
|
|
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.1730G>A (p.Trp577Ter)
|
rs138947766
|
|
NM_000527.5(LDLR):c.1735G>T (p.Asp579Tyr)
|
rs875989929
|
|
NM_000527.5(LDLR):c.1736A>G (p.Asp579Gly)
|
rs879255003
|
|
NM_000527.5(LDLR):c.1737del (p.Ser580fs)
|
rs879255005
|
|
NM_000527.5(LDLR):c.1738T>C (p.Ser580Pro)
|
rs1057519675
|
|
NM_000527.5(LDLR):c.1745T>C (p.Leu582Pro)
|
rs875989930
|
|
NM_000527.5(LDLR):c.1749_1753del (p.Ser584fs)
|
rs879255008
|
|
NM_000527.5(LDLR):c.1773_1774delinsT (p.Gly593fs)
|
rs1057519676
|
|
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.1814T>C (p.Leu605Pro)
|
rs875989932
|
|
NM_000527.5(LDLR):c.1823C>G (p.Pro608Arg)
|
rs879255035
|
|
NM_000527.5(LDLR):c.1829C>T (p.Ser610Phe)
|
rs879255038
|
|
NM_000527.5(LDLR):c.1843G>A (p.Glu615Lys)
|
rs879255045
|
|
NM_000527.5(LDLR):c.1844A>T (p.Glu615Val)
|
rs879255046
|
|
NM_000527.5(LDLR):c.1845+1G>C
|
|
|
NM_000527.5(LDLR):c.1845+2T>C
|
|
|
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.1856T>C (p.Phe619Ser)
|
rs879255054
|
|
NM_000527.5(LDLR):c.185C>G (p.Thr62Arg)
|
rs376207800
|
|
NM_000527.5(LDLR):c.185C>T (p.Thr62Met)
|
|
|
NM_000527.5(LDLR):c.1868TCA[1] (p.Ile624del)
|
|
|
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>T (p.Ala627Val)
|
rs875989934
|
|
NM_000527.5(LDLR):c.1886del (p.Phe629fs)
|
rs879255068
|
|
NM_000527.5(LDLR):c.191-1G>A
|
rs879254433
|
|
NM_000527.5(LDLR):c.1916T>A (p.Val639Asp)
|
rs794728584
|
|
NM_000527.5(LDLR):c.191T>A (p.Leu64Ter)
|
rs774016801
|
|
NM_000527.5(LDLR):c.1928C>T (p.Ala643Val)
|
rs879255075
|
|
NM_000527.5(LDLR):c.1934dup (p.Asn645fs)
|
rs879255076
|
|
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.1957G>T (p.Val653Phe)
|
rs879255085
|
|
NM_000527.5(LDLR):c.1958T>G (p.Val653Gly)
|
rs879255086
|
|
NM_000527.5(LDLR):c.1961_1965dup (p.His656fs)
|
rs879255088
|
|
NM_000527.5(LDLR):c.1971C>A (p.Asn657Lys)
|
rs1057519678
|
|
NM_000527.5(LDLR):c.1973T>C (p.Leu658Pro)
|
rs879255092
|
|
NM_000527.5(LDLR):c.1975A>C (p.Thr659Pro)
|
rs773693079
|
|
NM_000527.5(LDLR):c.1978C>T (p.Gln660Ter)
|
rs193922569
|
|
NM_000527.5(LDLR):c.1980_1983del (p.Pro661fs)
|
rs1057519679
|
|
NM_000527.5(LDLR):c.1982C>T (p.Pro661Leu)
|
|
|
NM_000527.5(LDLR):c.1988-2A>G
|
rs879255101
|
|
NM_000527.5(LDLR):c.1999T>C (p.Cys667Arg)
|
|
|
NM_000527.5(LDLR):c.2000G>A (p.Cys667Tyr)
|
rs28942083
|
|
NM_000527.5(LDLR):c.202T>C (p.Cys68Arg)
|
rs1057519652
|
|
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.2056C>G (p.Gln686Glu)
|
rs879255126
|
|
NM_000527.5(LDLR):c.2056C>T (p.Gln686Ter)
|
rs879255126
|
|
NM_000527.5(LDLR):c.2068del (p.His690fs)
|
rs879255130
|
|
NM_000527.5(LDLR):c.2068dup (p.His690fs)
|
|
|
NM_000527.5(LDLR):c.2078dup (p.Phe694fs)
|
rs1057519682
|
|
NM_000527.5(LDLR):c.2085_2103del (p.Ala697fs)
|
rs879255133
|
|
NM_000527.5(LDLR):c.2085del (p.Cys696fs)
|
rs1057519683
|
|
NM_000527.5(LDLR):c.2094C>G (p.Cys698Trp)
|
rs879255137
|
|
NM_000527.5(LDLR):c.2096C>T (p.Pro699Leu)
|
|
|
NM_000527.5(LDLR):c.2120A>T (p.Asp707Val)
|
rs879255143
|
|
NM_000527.5(LDLR):c.2125A>G (p.Arg709Gly)
|
rs1057519684
|
|
NM_000527.5(LDLR):c.2134dup (p.Leu712fs)
|
rs1057519685
|
|
NM_000527.5(LDLR):c.2140+1G>A
|
rs145787161
|
|
NM_000527.5(LDLR):c.2140+5G>A
|
|
|
NM_000527.5(LDLR):c.2177C>T (p.Thr726Ile)
|
|
|
NM_000527.5(LDLR):c.2215C>T (p.Gln739Ter)
|
rs370018159
|
|
NM_000527.5(LDLR):c.2231G>A (p.Arg744Gln)
|
|
|
NM_000527.5(LDLR):c.226G>T (p.Gly76Trp)
|
rs574337291
|
|
NM_000527.5(LDLR):c.2287dup (p.Glu763fs)
|
rs1057519686
|
|
NM_000527.5(LDLR):c.2295_2302del (p.Thr766fs)
|
rs1057519687
|
|
NM_000527.5(LDLR):c.2311+1G>T
|
|
|
NM_000527.5(LDLR):c.2311+2T>G
|
rs879255176
|
|
NM_000527.5(LDLR):c.2389G>A (p.Val797Met)
|
|
|
NM_000527.5(LDLR):c.2390-1G>C
|
rs879255193
|
|
NM_000527.5(LDLR):c.2392_2400del (p.Leu798_Val800del)
|
rs879255194
|
|
NM_000527.5(LDLR):c.2397_2405del (p.Val800_Leu802del)
|
|
|
NM_000527.5(LDLR):c.2402_2403del (p.Phe801fs)
|
rs1057519689
|
|
NM_000527.5(LDLR):c.2416dup (p.Val806fs)
|
|
|
NM_000527.5(LDLR):c.2417_2418insG (p.Phe807fs)
|
rs879255207
|
|
NM_000527.5(LDLR):c.241C>T (p.Arg81Cys)
|
|
|
NM_000527.5(LDLR):c.2441G>A (p.Arg814Gln)
|
|
|
NM_000527.5(LDLR):c.2446A>T (p.Lys816Ter)
|
rs879255213
|
|
NM_000527.5(LDLR):c.2447_2450dup (p.Asn817fs)
|
rs387906302
|
|
NM_000527.5(LDLR):c.244T>G (p.Cys82Gly)
|
rs879254447
|
|
NM_000527.5(LDLR):c.244_250dup (p.Pro84fs)
|
rs1057519653
|
|
NM_000527.5(LDLR):c.244del (p.Cys82fs)
|
rs879254446
|
|
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.2479G>T (p.Val827Phe)
|
rs137853964
|
|
NM_000527.5(LDLR):c.2482dup (p.Tyr828fs)
|
rs1057519690
|
|
NM_000527.5(LDLR):c.2509del (p.His837fs)
|
|
|
NM_000527.5(LDLR):c.253C>T (p.Gln85Ter)
|
rs875989893
|
|
NM_000527.5(LDLR):c.2547+5G>C
|
rs879255226
|
|
NM_000527.5(LDLR):c.265T>G (p.Cys89Gly)
|
rs879254455
|
|
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.28T>C (p.Trp10Arg)
|
|
|
NM_000527.5(LDLR):c.291C>G (p.Asn97Lys)
|
rs372845091
|
|
NM_000527.5(LDLR):c.298G>A (p.Asp100Asn)
|
rs879254459
|
|
NM_000527.5(LDLR):c.301G>T (p.Glu101Ter)
|
rs144172724
|
|
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+2dup
|
rs875989897
|
|
NM_000527.5(LDLR):c.313+5G>A
|
|
|
NM_000527.5(LDLR):c.313_313+1del
|
rs875989896
|
|
NM_000527.5(LDLR):c.314-2A>T
|
rs879254470
|
|
NM_000527.5(LDLR):c.316_336del (p.Pro106_Asp112del)
|
rs879254472
|
|
NM_000527.5(LDLR):c.324_325delinsTC (p.Cys109Arg)
|
rs879254476
|
|
NM_000527.5(LDLR):c.326G>T (p.Cys109Phe)
|
rs121908042
|
|
NM_000527.5(LDLR):c.327C>A (p.Cys109Ter)
|
rs1057519654
|
|
NM_000527.5(LDLR):c.337G>T (p.Glu113Ter)
|
|
|
NM_000527.5(LDLR):c.350_372dup (p.Gln125fs)
|
rs879254487
|
|
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.377T>C (p.Phe126Ser)
|
rs879254502
|
|
NM_000527.5(LDLR):c.383G>A (p.Cys128Tyr)
|
rs879254506
|
|
NM_000527.5(LDLR):c.407A>T (p.Asp136Val)
|
rs879254516
|
|
NM_000527.5(LDLR):c.409G>T (p.Gly137Cys)
|
rs730882082
|
|
NM_000527.5(LDLR):c.416A>G (p.Asp139Gly)
|
rs879254518
|
|
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.428G>A (p.Cys143Tyr)
|
rs879254522
|
|
NM_000527.5(LDLR):c.442_504del (p.Cys148_Asp168del)
|
rs1555803257
|
|
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.44T>C (p.Leu15Pro)
|
rs879254390
|
|
NM_000527.5(LDLR):c.450dup (p.Ala151fs)
|
rs879254530
|
|
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.464G>A (p.Cys155Tyr)
|
rs879254536
|
|
NM_000527.5(LDLR):c.465C>A (p.Cys155Ter)
|
rs766094434
|
|
NM_000527.5(LDLR):c.478T>C (p.Cys160Arg)
|
rs879254540
|
|
NM_000527.5(LDLR):c.482_488del (p.Ile161fs)
|
rs879254542
|
|
NM_000527.5(LDLR):c.501C>A (p.Cys167Ter)
|
|
|
NM_000527.5(LDLR):c.501C>G (p.Cys167Trp)
|
rs752596535
|
|
NM_000527.5(LDLR):c.503A>C (p.Asp168Ala)
|
|
|
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.535G>T (p.Glu179Ter)
|
rs879254567
|
|
NM_000527.5(LDLR):c.539G>A (p.Trp180Ter)
|
rs879254569
|
|
NM_000527.5(LDLR):c.53C>T (p.Ala18Val)
|
rs1057519651
|
|
NM_000527.5(LDLR):c.542C>G (p.Pro181Arg)
|
rs557344672
|
|
NM_000527.5(LDLR):c.550T>C (p.Cys184Arg)
|
rs879254572
|
|
NM_000527.5(LDLR):c.551G>A (p.Cys184Tyr)
|
|
|
NM_000527.5(LDLR):c.564C>G (p.Tyr188Ter)
|
rs121908034
|
|
NM_000527.5(LDLR):c.589T>G (p.Cys197Gly)
|
rs730882085
|
|
NM_000527.5(LDLR):c.598T>A (p.Phe200Ile)
|
rs879254585
|
|
NM_000527.5(LDLR):c.609del (p.Cys204fs)
|
rs879254591
|
|
NM_000527.5(LDLR):c.610T>G (p.Cys204Gly)
|
rs1057519655
|
|
NM_000527.5(LDLR):c.611G>A (p.Cys204Tyr)
|
rs879254592
|
|
NM_000527.5(LDLR):c.617del (p.Ser206fs)
|
rs879254594
|
|
NM_000527.5(LDLR):c.621C>T (p.Gly207=)
|
rs121908044
|
|
NM_000527.5(LDLR):c.629T>C (p.Ile210Thr)
|
rs879254601
|
|
NM_000527.5(LDLR):c.641G>C (p.Trp214Ser)
|
rs879254605
|
|
NM_000527.5(LDLR):c.646T>C (p.Cys216Arg)
|
rs879254610
|
|
NM_000527.5(LDLR):c.646del (p.Cys216fs)
|
rs879254609
|
|
NM_000527.5(LDLR):c.647G>A (p.Cys216Tyr)
|
rs879254611
|
|
NM_000527.5(LDLR):c.648_656del (p.Asp217_Gly219del)
|
rs879254613
|
|
NM_000527.5(LDLR):c.651TGG[1] (p.Gly219del)
|
rs121908027
|
|
NM_000527.5(LDLR):c.660_666dup (p.Lys223fs)
|
rs1057519657
|
|
NM_000527.5(LDLR):c.661G>A (p.Asp221Asn)
|
rs875989906
|
|
NM_000527.5(LDLR):c.662A>G (p.Asp221Gly)
|
|
|
NM_000527.5(LDLR):c.664_681del (p.Cys222_Asp227del)
|
rs387906306
|
|
NM_000527.5(LDLR):c.665G>T (p.Cys222Phe)
|
rs730882086
|
|
NM_000527.5(LDLR):c.666_682dup (p.Glu228fs)
|
rs1057519662
|
|
NM_000527.5(LDLR):c.666_687del (p.Asp221_Cys222insTer)
|
rs879254623
|
|
NM_000527.5(LDLR):c.667_693del (p.Lys223_Cys231del)
|
rs879254624
|
|
NM_000527.5(LDLR):c.669G>C (p.Lys223Asn)
|
rs879254627
|
|
NM_000527.5(LDLR):c.67+2T>A
|
rs879254394
|
|
NM_000527.5(LDLR):c.670G>A (p.Asp224Asn)
|
rs387906303
|
|
NM_000527.5(LDLR):c.672C>A (p.Asp224Glu)
|
rs1057519658
|
|
NM_000527.5(LDLR):c.673_674insTGCAA (p.Lys225fs)
|
rs879254618
|
|
NM_000527.5(LDLR):c.673_681dup (p.Lys225_Asp227dup)
|
|
|
NM_000527.5(LDLR):c.674_683del (p.Lys225fs)
|
rs1057519659
|
|
NM_000527.5(LDLR):c.68-1G>A
|
rs879254397
|
|
NM_000527.5(LDLR):c.680_681del (p.Asp227fs)
|
rs387906305
|
|
NM_000527.5(LDLR):c.680_692del (p.Asp227fs)
|
rs1057519660
|
|
NM_000527.5(LDLR):c.681C>G (p.Asp227Glu)
|
rs121908028
|
|
NM_000527.5(LDLR):c.681_682insTGAG (p.Glu228Ter)
|
rs1555803427
|
|
NM_000527.5(LDLR):c.681del (p.Asp227fs)
|
rs1057519661
|
|
NM_000527.5(LDLR):c.682G>A (p.Glu228Lys)
|
|
|
NM_000527.5(LDLR):c.682del (p.Glu228fs)
|
rs879254640
|
|
NM_000527.5(LDLR):c.683A>G (p.Glu228Gly)
|
rs879254642
|
|
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.706T>G (p.Cys236Gly)
|
rs879254655
|
|
NM_000527.5(LDLR):c.743G>C (p.Cys248Ser)
|
rs879254663
|
|
NM_000527.5(LDLR):c.761A>C (p.Gln254Pro)
|
rs879254667
|
|
NM_000527.5(LDLR):c.769C>T (p.Arg257Trp)
|
|
|
NM_000527.5(LDLR):c.781del (p.Cys261fs)
|
rs879254674
|
|
NM_000527.5(LDLR):c.782G>A (p.Cys261Tyr)
|
rs121908040
|
|
NM_000527.5(LDLR):c.783C>A (p.Cys261Ter)
|
rs1057519663
|
|
NM_000527.5(LDLR):c.806G>A (p.Gly269Asp)
|
|
|
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>C (p.Cys276Arg)
|
rs879254692
|
|
NM_000527.5(LDLR):c.828C>G (p.Cys276Trp)
|
|
|
NM_000527.5(LDLR):c.829G>A (p.Glu277Lys)
|
|
|
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.875dup (p.Asp293fs)
|
rs879254701
|
|
NM_000527.5(LDLR):c.887G>A (p.Cys296Tyr)
|
rs879254707
|
|
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.917C>T (p.Ser306Leu)
|
rs11547917
|
|
NM_000527.5(LDLR):c.919G>A (p.Asp307Asn)
|
rs879254719
|
|
NM_000527.5(LDLR):c.91G>T (p.Glu31Ter)
|
rs776421777
|
|
NM_000527.5(LDLR):c.924A>T (p.Glu308Asp)
|
rs1057519664
|
|
NM_000527.5(LDLR):c.932A>G (p.Lys311Arg)
|
rs761765254
|
|
NM_000527.5(LDLR):c.932_933del (p.Lys311fs)
|
rs879254723
|
|
NM_000527.5(LDLR):c.939C>G (p.Cys313Trp)
|
rs13306512
|
|
NM_000527.5(LDLR):c.940+1G>A
|
rs879254729
|
|
NM_000527.5(LDLR):c.940+1G>C
|
rs879254729
|
|
NM_000527.5(LDLR):c.940+1dup
|
rs1057519666
|
|
NM_000527.5(LDLR):c.940+2T>A
|
rs875989912
|
|
NM_000527.5(LDLR):c.940+2T>G
|
rs875989912
|
|
NM_000527.5(LDLR):c.940_940+14del
|
rs1057519665
|
|
NM_000527.5(LDLR):c.941-12G>A
|
rs879254734
|
|
NM_000527.5(LDLR):c.941-2A>G
|
rs112366278
|
|
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.970G>A (p.Gly324Ser)
|
|
|
NM_000527.5(LDLR):c.97C>T (p.Gln33Ter)
|
|
|
NM_000527.5(LDLR):c.985T>C (p.Cys329Arg)
|
rs879254749
|
|
NM_000527.5(LDLR):c.985T>G (p.Cys329Gly)
|
rs879254749
|
|