|
NM_000527.5(LDLR):c.682G>T (p.Glu228Ter)
|
rs121908029
|
0.00003
|
|
NM_000527.5(LDLR):c.1846-1G>A
|
rs879255051
|
0.00001
|
|
NM_000527.5(LDLR):c.2061dup (p.Asn688fs)
|
rs137853965
|
0.00001
|
|
NM_000527.5(LDLR):c.2140G>T (p.Glu714Ter)
|
rs869320652
|
0.00001
|
|
NM_000527.5(LDLR):c.413C>G (p.Ser138Ter)
|
rs755799528
|
0.00001
|
|
NM_000527.5(LDLR):c.418G>T (p.Glu140Ter)
|
rs748944640
|
0.00001
|
|
NM_000527.5(LDLR):c.429C>A (p.Cys143Ter)
|
rs199774121
|
0.00001
|
|
NM_000527.5(LDLR):c.544C>T (p.Gln182Ter)
|
rs879254570
|
0.00001
|
|
NM_000527.5(LDLR):c.674_681dup (p.Glu228fs)
|
rs1555803423
|
0.00001
|
|
NM_000527.5(LDLR):c.772G>T (p.Glu258Ter)
|
rs879254672
|
0.00001
|
|
FH Bologna 2
|
|
|
|
FH London 1
|
|
|
|
FH Paris 1
|
rs1555803632
|
|
|
FH Reykjavik
|
|
|
|
FH Tonami 1
|
|
|
|
FH Tsukuba 2
|
|
|
|
FH Vancouver 2
|
|
|
|
FH Vancouver 3
|
|
|
|
FH Vancouver 6
|
|
|
|
NM_000527.4(LDLR):c.190+2_190+3dup
|
|
|
|
NM_000527.4(LDLR):c.680_682delACGins14 (p.?)
|
|
|
|
NM_000527.4(LDLR):c.694+2T>C
|
rs200238879
|
|
|
NM_000527.4(LDLR):c.[649_654dupGATGGT;657_661delCCCCG]
|
|
|
|
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.1014C>A (p.Cys338Ter)
|
rs879254755
|
|
|
NM_000527.5(LDLR):c.1017dup (p.Cys340fs)
|
rs879254757
|
|
|
NM_000527.5(LDLR):c.102C>A (p.Cys34Ter)
|
rs879254407
|
|
|
NM_000527.5(LDLR):c.1031del (p.Phe344fs)
|
rs879254761
|
|
|
NM_000527.5(LDLR):c.1033C>T (p.Gln345Ter)
|
|
|
|
NM_000527.5(LDLR):c.1034dup (p.Leu346fs)
|
rs879254762
|
|
|
NM_000527.5(LDLR):c.103C>T (p.Gln35Ter)
|
rs879254408
|
|
|
NM_000527.5(LDLR):c.1042_1043insA (p.Ala348fs)
|
rs879254763
|
|
|
NM_000527.5(LDLR):c.1042del (p.Ala348fs)
|
rs879254764
|
|
|
NM_000527.5(LDLR):c.1045C>T (p.Gln349Ter)
|
rs748300548
|
|
|
NM_000527.5(LDLR):c.1045del (p.Gln349fs)
|
rs879254765
|
|
|
NM_000527.5(LDLR):c.1045dup (p.Gln349fs)
|
rs879254765
|
|
|
NM_000527.5(LDLR):c.1046del (p.Gln349fs)
|
rs879254767
|
|
|
NM_000527.5(LDLR):c.1048C>T (p.Arg350Ter)
|
|
|
|
NM_000527.5(LDLR):c.1054_1064del (p.Cys352fs)
|
|
|
|
NM_000527.5(LDLR):c.1055_1062dup (p.Ile355fs)
|
rs879254768
|
|
|
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+1G>A
|
rs879254771
|
|
|
NM_000527.5(LDLR):c.1062dup (p.Ile355fs)
|
rs879254775
|
|
|
NM_000527.5(LDLR):c.1067del (p.Asp356fs)
|
rs879254778
|
|
|
NM_000527.5(LDLR):c.1070_1073dup (p.Cys358Ter)
|
rs879254782
|
|
|
NM_000527.5(LDLR):c.1075C>T (p.Gln359Ter)
|
rs879254784
|
|
|
NM_000527.5(LDLR):c.1085del (p.Asp362fs)
|
rs879254786
|
|
|
NM_000527.5(LDLR):c.108del (p.Asp36fs)
|
rs879254409
|
|
|
NM_000527.5(LDLR):c.1096C>T (p.Gln366Ter)
|
rs879254789
|
|
|
NM_000527.5(LDLR):c.1099_1104delinsGT (p.Leu367fs)
|
|
|
|
NM_000527.5(LDLR):c.1104C>A (p.Cys368Ter)
|
rs113669610
|
|
|
NM_000527.5(LDLR):c.1113_1114insTGGG (p.Glu372fs)
|
rs879254794
|
|
|
NM_000527.5(LDLR):c.1118_1121dup (p.Tyr375fs)
|
rs875989916
|
|
|
NM_000527.5(LDLR):c.1120_1123dup (p.Tyr375fs)
|
rs879254799
|
|
|
NM_000527.5(LDLR):c.1123_1124insC (p.Tyr375fs)
|
rs1555804777
|
|
|
NM_000527.5(LDLR):c.1132C>T (p.Gln378Ter)
|
rs879254802
|
|
|
NM_000527.5(LDLR):c.1135_1186+14del
|
rs1555804793
|
|
|
NM_000527.5(LDLR):c.114dup (p.Cys39fs)
|
rs879254410
|
|
|
NM_000527.5(LDLR):c.1150C>T (p.Gln384Ter)
|
rs879254805
|
|
|
NM_000527.5(LDLR):c.1162del (p.His388fs)
|
rs875989917
|
|
|
NM_000527.5(LDLR):c.1168A>T (p.Lys390Ter)
|
rs879254811
|
|
|
NM_000527.5(LDLR):c.116_117delinsAA (p.Cys39Ter)
|
rs879254411
|
|
|
NM_000527.5(LDLR):c.1173del (p.Cys392fs)
|
rs879254812
|
|
|
NM_000527.5(LDLR):c.1174dup (p.Cys392fs)
|
rs879254813
|
|
|
NM_000527.5(LDLR):c.1176C>A (p.Cys392Ter)
|
|
|
|
NM_000527.5(LDLR):c.1178del (p.Lys393fs)
|
rs879254815
|
|
|
NM_000527.5(LDLR):c.117del (p.Lys38_Cys39insTer)
|
rs879254412
|
|
|
NM_000527.5(LDLR):c.1182del (p.Val395fs)
|
rs879254817
|
|
|
NM_000527.5(LDLR):c.1186+1del
|
rs879254819
|
|
|
NM_000527.5(LDLR):c.1186+5G>A
|
rs879254821
|
|
|
NM_000527.5(LDLR):c.1187-10G>A
|
|
|
|
NM_000527.5(LDLR):c.118del (p.Ile40fs)
|
rs879254413
|
|
|
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.1205dup (p.Phe403fs)
|
rs879254828
|
|
|
NM_000527.5(LDLR):c.1206_1207del (p.Phe403fs)
|
rs879254829
|
|
|
NM_000527.5(LDLR):c.1208del (p.Phe403fs)
|
rs879254832
|
|
|
NM_000527.5(LDLR):c.1209del (p.Phe403fs)
|
rs879254833
|
|
|
NM_000527.5(LDLR):c.1216C>A (p.Arg406=)
|
rs121908043
|
|
|
NM_000527.5(LDLR):c.1233del (p.Lys411_Met412insTer)
|
rs879254841
|
|
|
NM_000527.5(LDLR):c.1245_1249dup (p.Ser417fs)
|
rs879254846
|
|
|
NM_000527.5(LDLR):c.1252G>T (p.Glu418Ter)
|
rs869320651
|
|
|
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.126C>A (p.Tyr42Ter)
|
|
|
|
NM_000527.5(LDLR):c.1291_1331del (p.Val430_Ala431insTer)
|
rs879254854
|
|
|
NM_000527.5(LDLR):c.12G>A (p.Trp4Ter)
|
rs756039188
|
|
|
NM_000527.5(LDLR):c.1303del (p.Glu435fs)
|
rs879254857
|
|
|
NM_000527.5(LDLR):c.1306del (p.Val436fs)
|
rs879254858
|
|
|
NM_000527.5(LDLR):c.1309dup (p.Ala437fs)
|
rs879254859
|
|
|
NM_000527.5(LDLR):c.131G>A (p.Trp44Ter)
|
rs267607213
|
|
|
NM_000527.5(LDLR):c.1326C>G (p.Tyr442Ter)
|
rs879254865
|
|
|
NM_000527.5(LDLR):c.1328G>A (p.Trp443Ter)
|
rs879254866
|
|
|
NM_000527.5(LDLR):c.1329G>A (p.Trp443Ter)
|
rs879254867
|
|
|
NM_000527.5(LDLR):c.132_133dup (p.Val45fs)
|
rs879254414
|
|
|
NM_000527.5(LDLR):c.1336del (p.Leu446fs)
|
rs879254868
|
|
|
NM_000527.5(LDLR):c.1342C>T (p.Gln448Ter)
|
|
|
|
NM_000527.5(LDLR):c.1343del (p.Gln448fs)
|
rs879254872
|
|
|
NM_000527.5(LDLR):c.1363C>T (p.Gln455Ter)
|
rs879254880
|
|
|
NM_000527.5(LDLR):c.1363del (p.Gln455fs)
|
rs879254881
|
|
|
NM_000527.5(LDLR):c.1365del (p.Gln455fs)
|
rs879254882
|
|
|
NM_000527.5(LDLR):c.1367_1376del (p.Leu456fs)
|
rs879254883
|
|
|
NM_000527.5(LDLR):c.1371_1374dup (p.Ala459fs)
|
rs875989920
|
|
|
NM_000527.5(LDLR):c.1374_1375del (p.Arg458fs)
|
rs879254884
|
|
|
NM_000527.5(LDLR):c.1377_1380del (p.His460fs)
|
rs879254885
|
|
|
NM_000527.5(LDLR):c.1379_1396delinsCAGCTTA (p.His460_Asp466delinsProAlaTer)
|
rs879254886
|
|
|
NM_000527.5(LDLR):c.1379_1402delinsCAGCTTGACCCGC (p.His460_Val468delinsProAlaTer)
|
rs879254887
|
|
|
NM_000527.5(LDLR):c.138C>A (p.Cys46Ter)
|
rs754676104
|
|
|
NM_000527.5(LDLR):c.1392del (p.Tyr465fs)
|
rs879254888
|
|
|
NM_000527.5(LDLR):c.1415_1418dup (p.Gln474fs)
|
rs879254892
|
|
|
NM_000527.5(LDLR):c.1420C>T (p.Gln474Ter)
|
rs201967266
|
|
|
NM_000527.5(LDLR):c.1423_1424delinsA (p.Ala475fs)
|
rs879254896
|
|
|
NM_000527.5(LDLR):c.1428dup (p.Asp477fs)
|
rs876657697
|
|
|
NM_000527.5(LDLR):c.1434del (p.Leu479fs)
|
rs879254899
|
|
|
NM_000527.5(LDLR):c.1439_1449del (p.Ala480fs)
|
rs879254902
|
|
|
NM_000527.5(LDLR):c.1448G>A (p.Trp483Ter)
|
rs875989921
|
|
|
NM_000527.5(LDLR):c.1449G>A (p.Trp483Ter)
|
rs879254907
|
|
|
NM_000527.5(LDLR):c.1467C>G (p.Tyr489Ter)
|
rs370777955
|
|
|
NM_000527.5(LDLR):c.1469G>A (p.Trp490Ter)
|
rs875989922
|
|
|
NM_000527.5(LDLR):c.1470G>A (p.Trp490Ter)
|
rs879254915
|
|
|
NM_000527.5(LDLR):c.1471dup (p.Thr491fs)
|
rs879254916
|
|
|
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.1486_1487del (p.Gly496fs)
|
rs869025454
|
|
|
NM_000527.5(LDLR):c.148del (p.Ala50fs)
|
rs879254417
|
|
|
NM_000527.5(LDLR):c.1496_1497del (p.Ser499fs)
|
rs879254922
|
|
|
NM_000527.5(LDLR):c.1498_1499del (p.Val500fs)
|
rs879254923
|
|
|
NM_000527.5(LDLR):c.1502dup (p.Asp502fs)
|
rs879254924
|
|
|
NM_000527.5(LDLR):c.1510A>T (p.Lys504Ter)
|
rs730882103
|
|
|
NM_000527.5(LDLR):c.1516_1562del (p.Val506fs)
|
rs879254927
|
|
|
NM_000527.5(LDLR):c.1522delinsCTGAAT (p.Arg508fs)
|
rs879254930
|
|
|
NM_000527.5(LDLR):c.1532T>G (p.Leu511Ter)
|
rs879254932
|
|
|
NM_000527.5(LDLR):c.1533dup (p.Phe512fs)
|
rs879254933
|
|
|
NM_000527.5(LDLR):c.1549_1555del (p.Ser517fs)
|
rs879254935
|
|
|
NM_000527.5(LDLR):c.157C>T (p.Gln53Ter)
|
rs879254419
|
|
|
NM_000527.5(LDLR):c.1586+1G>A
|
|
|
|
NM_000527.5(LDLR):c.1587_1591del (p.Phe530fs)
|
rs879254949
|
|
|
NM_000527.5(LDLR):c.1598G>A (p.Trp533Ter)
|
rs746939188
|
|
|
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.1610del (p.Gly537fs)
|
rs879254959
|
|
|
NM_000527.5(LDLR):c.1632del (p.Gly546fs)
|
rs879254964
|
|
|
NM_000527.5(LDLR):c.1640_1652delinsAGCGTCATCTTCCTGAC (p.Leu547fs)
|
rs879254967
|
|
|
NM_000527.5(LDLR):c.1644_1645insC (p.Gly549fs)
|
rs879254969
|
|
|
NM_000527.5(LDLR):c.1645_1646insC (p.Gly549fs)
|
rs879254971
|
|
|
NM_000527.5(LDLR):c.1651del (p.Asp551fs)
|
rs879254973
|
|
|
NM_000527.5(LDLR):c.1655del (p.Ile552fs)
|
rs879254972
|
|
|
NM_000527.5(LDLR):c.1659_1661delinsATACTTTCA (p.Tyr553_Ser554delinsTer)
|
rs879254975
|
|
|
NM_000527.5(LDLR):c.1661C>A (p.Ser554Ter)
|
rs879254976
|
|
|
NM_000527.5(LDLR):c.1662_1669dup (p.Thr557delinsSerTrpTer)
|
rs879254977
|
|
|
NM_000527.5(LDLR):c.1671_1672del (p.Glu558fs)
|
rs879254979
|
|
|
NM_000527.5(LDLR):c.1672G>T (p.Glu558Ter)
|
rs879254980
|
|
|
NM_000527.5(LDLR):c.1681C>T (p.Gln561Ter)
|
rs879254981
|
|
|
NM_000527.5(LDLR):c.1683del (p.Gln561fs)
|
rs879254982
|
|
|
NM_000527.5(LDLR):c.1685G>A (p.Trp562Ter)
|
rs875989925
|
|
|
NM_000527.5(LDLR):c.1686G>A (p.Trp562Ter)
|
rs879254985
|
|
|
NM_000527.5(LDLR):c.1686_1693delinsT (p.Trp562fs)
|
rs879254984
|
|
|
NM_000527.5(LDLR):c.1689dup (p.Asn564fs)
|
rs879254988
|
|
|
NM_000527.5(LDLR):c.1702_1705dup (p.Asp569fs)
|
rs879254990
|
|
|
NM_000527.5(LDLR):c.1705+1del
|
rs879254992
|
|
|
NM_000527.5(LDLR):c.1706-2A>T
|
rs878854027
|
|
|
NM_000527.5(LDLR):c.1715_1719delinsA (p.Ser572fs)
|
rs875989927
|
|
|
NM_000527.5(LDLR):c.1718del (p.Gly573fs)
|
rs879254998
|
|
|
NM_000527.5(LDLR):c.172del (p.Glu58fs)
|
rs879254422
|
|
|
NM_000527.5(LDLR):c.1731G>A (p.Trp577Ter)
|
rs875989928
|
|
|
NM_000527.5(LDLR):c.1737del (p.Ser580fs)
|
rs879255005
|
|
|
NM_000527.5(LDLR):c.1745_1746del (p.Leu582fs)
|
rs879255006
|
|
|
NM_000527.5(LDLR):c.1749_1753del (p.Ser584fs)
|
rs879255008
|
|
|
NM_000527.5(LDLR):c.1752del (p.Ile585fs)
|
rs879255011
|
|
|
NM_000527.5(LDLR):c.1756del (p.Ser586fs)
|
rs879255013
|
|
|
NM_000527.5(LDLR):c.1759del (p.Ser587fs)
|
rs879255014
|
|
|
NM_000527.5(LDLR):c.1766_1767del (p.Asp589fs)
|
rs879255015
|
|
|
NM_000527.5(LDLR):c.1766del (p.Asp589fs)
|
rs879255016
|
|
|
NM_000527.5(LDLR):c.1778del (p.Gly593fs)
|
rs875989931
|
|
|
NM_000527.5(LDLR):c.1778dup (p.Asn594fs)
|
rs875989931
|
|
|
NM_000527.5(LDLR):c.1779del (p.Asn594fs)
|
rs879255019
|
|
|
NM_000527.5(LDLR):c.1784_1790del (p.Arg595fs)
|
rs879255020
|
|
|
NM_000527.5(LDLR):c.1786A>T (p.Lys596Ter)
|
rs879255021
|
|
|
NM_000527.5(LDLR):c.1789del (p.Thr597fs)
|
rs879255022
|
|
|
NM_000527.5(LDLR):c.1798G>T (p.Glu600Ter)
|
rs879255026
|
|
|
NM_000527.5(LDLR):c.1802dup (p.Asp601fs)
|
rs879255028
|
|
|
NM_000527.5(LDLR):c.1807A>T (p.Lys603Ter)
|
rs879255029
|
|
|
NM_000527.5(LDLR):c.1813C>T (p.Leu605=)
|
rs879255031
|
|
|
NM_000527.5(LDLR):c.1815_1825del (p.Ala606fs)
|
rs879255032
|
|
|
NM_000527.5(LDLR):c.1832dup (p.Leu611fs)
|
rs879255039
|
|
|
NM_000527.5(LDLR):c.1841_1842del (p.Val613_Phe614insTer)
|
rs879255044
|
|
|
NM_000527.5(LDLR):c.1845+1G>C
|
|
|
|
NM_000527.5(LDLR):c.1855_1856insA (p.Phe619fs)
|
rs879255053
|
|
|
NM_000527.5(LDLR):c.1859G>A (p.Trp620Ter)
|
|
|
|
NM_000527.5(LDLR):c.185_186insT (p.Cys63fs)
|
rs879254425
|
|
|
NM_000527.5(LDLR):c.1860G>A (p.Trp620Ter)
|
rs875989933
|
|
|
NM_000527.5(LDLR):c.1860dup (p.Thr621fs)
|
rs879255057
|
|
|
NM_000527.5(LDLR):c.1867_1868del (p.Ile623fs)
|
rs879255061
|
|
|
NM_000527.5(LDLR):c.1872del (p.Asn625fs)
|
rs879255063
|
|
|
NM_000527.5(LDLR):c.1876del (p.Glu626fs)
|
rs879255065
|
|
|
NM_000527.5(LDLR):c.1886del (p.Phe629fs)
|
rs879255068
|
|
|
NM_000527.5(LDLR):c.191-512_940+631del
|
|
|
|
NM_000527.5(LDLR):c.1934dup (p.Asn645fs)
|
rs879255076
|
|
|
NM_000527.5(LDLR):c.1935_1936insA (p.Leu646fs)
|
rs879255077
|
|
|
NM_000527.5(LDLR):c.1936del (p.Leu646fs)
|
rs879255078
|
|
|
NM_000527.5(LDLR):c.193_201delinsGACTTCA (p.Ser65fs)
|
rs879254434
|
|
|
NM_000527.5(LDLR):c.1946del (p.Pro649fs)
|
rs879255082
|
|
|
NM_000527.5(LDLR):c.1946dup (p.Glu650fs)
|
rs879255082
|
|
|
NM_000527.5(LDLR):c.1948_1952dup (p.Asp651fs)
|
rs1555807275
|
|
|
NM_000527.5(LDLR):c.1954_1955del (p.Met652fs)
|
rs875989935
|
|
|
NM_000527.5(LDLR):c.195_196insA (p.Val66fs)
|
rs1555802710
|
|
|
NM_000527.5(LDLR):c.195_196insAT (p.Val66fs)
|
rs879254435
|
|
|
NM_000527.5(LDLR):c.195dup (p.Val66fs)
|
rs879254435
|
|
|
NM_000527.5(LDLR):c.1961_1965dup (p.His656fs)
|
rs879255088
|
|
|
NM_000527.5(LDLR):c.1964del (p.Phe655fs)
|
rs879255089
|
|
|
NM_000527.5(LDLR):c.196_197del (p.Val66fs)
|
rs875989889
|
|
|
NM_000527.5(LDLR):c.1975_1987+16del
|
rs879255093
|
|
|
NM_000527.5(LDLR):c.1986_1987delinsC (p.Arg662fs)
|
rs879255096
|
|
|
NM_000527.5(LDLR):c.1987+1del
|
rs879255097
|
|
|
NM_000527.5(LDLR):c.1988-52_2006del
|
rs1555807306
|
|
|
NM_000527.5(LDLR):c.1996_2012del (p.Trp666fs)
|
rs879255104
|
|
|
NM_000527.5(LDLR):c.1997G>A (p.Trp666Ter)
|
|
|
|
NM_000527.5(LDLR):c.1998G>A (p.Trp666Ter)
|
rs752935814
|
|
|
NM_000527.5(LDLR):c.1998del (p.Trp666fs)
|
rs879255106
|
|
|
NM_000527.5(LDLR):c.199dup (p.Thr67fs)
|
rs879254436
|
|
|
NM_000527.5(LDLR):c.2000del (p.Cys667fs)
|
rs879255107
|
|
|
NM_000527.5(LDLR):c.2001T>A (p.Cys667Ter)
|
rs879255109
|
|
|
NM_000527.5(LDLR):c.2001_2007del (p.Trp666_Cys667insTer)
|
rs879255108
|
|
|
NM_000527.5(LDLR):c.2013_2014del (p.Leu672fs)
|
rs879255110
|
|
|
NM_000527.5(LDLR):c.2014del (p.Thr671_Leu672insTer)
|
rs879255110
|
|
|
NM_000527.5(LDLR):c.2015del (p.Leu672fs)
|
rs879255112
|
|
|
NM_000527.5(LDLR):c.2030_2042del (p.Cys677fs)
|
rs879255113
|
|
|
NM_000527.5(LDLR):c.2032C>T (p.Gln678Ter)
|
rs879255114
|
|
|
NM_000527.5(LDLR):c.2035dup (p.Tyr679fs)
|
rs879255116
|
|
|
NM_000527.5(LDLR):c.2036dup (p.Tyr679Ter)
|
rs879255117
|
|
|
NM_000527.5(LDLR):c.2037T>A (p.Tyr679Ter)
|
rs760436036
|
|
|
NM_000527.5(LDLR):c.2043C>A (p.Cys681Ter)
|
|
|
|
NM_000527.5(LDLR):c.2046_2049del (p.Ala684fs)
|
rs879255120
|
|
|
NM_000527.5(LDLR):c.204C>A (p.Cys68Ter)
|
rs879254437
|
|
|
NM_000527.5(LDLR):c.2050_2063del (p.Ala684fs)
|
rs879255121
|
|
|
NM_000527.5(LDLR):c.2054del (p.Pro685fs)
|
rs879255122
|
|
|
NM_000527.5(LDLR):c.2055_2067del (p.Gln686fs)
|
rs879255123
|
|
|
NM_000527.5(LDLR):c.2055del (p.Gln686fs)
|
rs879255124
|
|
|
NM_000527.5(LDLR):c.2056C>T (p.Gln686Ter)
|
rs879255126
|
|
|
NM_000527.5(LDLR):c.2056_2068del (p.Gln686fs)
|
rs879255125
|
|
|
NM_000527.5(LDLR):c.2060del (p.Ile687fs)
|
rs879255127
|
|
|
NM_000527.5(LDLR):c.2060dup (p.Asn688fs)
|
rs751228587
|
|
|
NM_000527.5(LDLR):c.2063del (p.Asn688fs)
|
rs879255128
|
|
|
NM_000527.5(LDLR):c.2063dup (p.Asn688fs)
|
rs879255128
|
|
|
NM_000527.5(LDLR):c.2068del (p.His690fs)
|
rs879255130
|
|
|
NM_000527.5(LDLR):c.2072C>A (p.Ser691Ter)
|
rs369943481
|
|
|
NM_000527.5(LDLR):c.2077_2078del (p.Lys693fs)
|
rs879255131
|
|
|
NM_000527.5(LDLR):c.2085_2103del (p.Ala697fs)
|
rs879255133
|
|
|
NM_000527.5(LDLR):c.2088C>A (p.Cys696Ter)
|
rs112954220
|
|
|
NM_000527.5(LDLR):c.2092del (p.Cys698fs)
|
rs879255135
|
|
|
NM_000527.5(LDLR):c.2096del (p.Pro699fs)
|
rs879255138
|
|
|
NM_000527.5(LDLR):c.2108_2111dup (p.Arg706fs)
|
rs879255140
|
|
|
NM_000527.5(LDLR):c.2108_2114dup (p.Arg706fs)
|
rs879255141
|
|
|
NM_000527.5(LDLR):c.2133C>A (p.Cys711Ter)
|
rs879255146
|
|
|
NM_000527.5(LDLR):c.214del (p.Asp72fs)
|
rs879254438
|
|
|
NM_000527.5(LDLR):c.2164C>T (p.Gln722Ter)
|
|
|
|
NM_000527.5(LDLR):c.2167del (p.Glu723fs)
|
rs879255153
|
|
|
NM_000527.5(LDLR):c.2175del (p.Thr726fs)
|
rs879255155
|
|
|
NM_000527.5(LDLR):c.2178del (p.Val727fs)
|
rs879255156
|
|
|
NM_000527.5(LDLR):c.2184del (p.Arg728fs)
|
rs879255157
|
|
|
NM_000527.5(LDLR):c.2186dup (p.Val731fs)
|
rs879255158
|
|
|
NM_000527.5(LDLR):c.2187_2197del (p.Lys730fs)
|
rs879255159
|
|
|
NM_000527.5(LDLR):c.2191_2203dup (p.Ala735fs)
|
rs879255160
|
|
|
NM_000527.5(LDLR):c.2191del (p.Val731fs)
|
rs879255161
|
|
|
NM_000527.5(LDLR):c.2201_2202del (p.Thr734fs)
|
rs879255163
|
|
|
NM_000527.5(LDLR):c.2207dup (p.Arg737fs)
|
rs879255164
|
|
|
NM_000527.5(LDLR):c.2215C>T (p.Gln739Ter)
|
rs370018159
|
|
|
NM_000527.5(LDLR):c.2226del (p.Thr743fs)
|
rs879255166
|
|
|
NM_000527.5(LDLR):c.2230del (p.Arg744fs)
|
rs879255167
|
|
|
NM_000527.5(LDLR):c.2264_2273del (p.Ala755fs)
|
rs879255168
|
|
|
NM_000527.5(LDLR):c.2266del (p.Thr756fs)
|
rs879255169
|
|
|
NM_000527.5(LDLR):c.2271del (p.Leu759fs)
|
|
|
|
NM_000527.5(LDLR):c.2292del (p.Ile764fs)
|
rs875989941
|
|
|
NM_000527.5(LDLR):c.2297_2298del (p.Thr766fs)
|
rs879255172
|
|
|
NM_000527.5(LDLR):c.2299del (p.Met767fs)
|
rs879255174
|
|
|
NM_000527.5(LDLR):c.2308C>T (p.Gln770Ter)
|
rs763625913
|
|
|
NM_000527.5(LDLR):c.230del (p.Gly77fs)
|
rs879254440
|
|
|
NM_000527.5(LDLR):c.230dup (p.Arg78fs)
|
rs879254440
|
|
|
NM_000527.5(LDLR):c.2311+1G>A
|
rs879255175
|
|
|
NM_000527.5(LDLR):c.2317_2318insTA (p.Gly773fs)
|
rs879255177
|
|
|
NM_000527.5(LDLR):c.2318del (p.Gly773fs)
|
rs879255178
|
|
|
NM_000527.5(LDLR):c.232del (p.Arg78fs)
|
rs879254442
|
|
|
NM_000527.5(LDLR):c.2333_2334insC (p.Arg778fs)
|
|
|
|
NM_000527.5(LDLR):c.2343_2347del (p.Lys782fs)
|
rs879255181
|
|
|
NM_000527.5(LDLR):c.236dup (p.Asn80fs)
|
rs879254443
|
|
|
NM_000527.5(LDLR):c.2385del (p.Ile796fs)
|
rs879255185
|
|
|
NM_000527.5(LDLR):c.2390-1G>A
|
rs879255193
|
|
|
NM_000527.5(LDLR):c.2390-2A>G
|
rs767790696
|
|
|
NM_000527.5(LDLR):c.2397_2412del (p.Val800fs)
|
rs879255197
|
|
|
NM_000527.5(LDLR):c.2399_2403delinsGGGT (p.Val800fs)
|
rs879255198
|
|
|
NM_000527.5(LDLR):c.2403_2406del (p.Leu802fs)
|
rs879255200
|
|
|
NM_000527.5(LDLR):c.2408_2409dup (p.Leu804fs)
|
rs879255202
|
|
|
NM_000527.5(LDLR):c.2416del (p.Val806fs)
|
rs773618064
|
|
|
NM_000527.5(LDLR):c.2416dup (p.Val806fs)
|
|
|
|
NM_000527.5(LDLR):c.2417_2418insG (p.Phe807fs)
|
rs879255207
|
|
|
NM_000527.5(LDLR):c.2417_2418insGG (p.Phe807fs)
|
rs879255207
|
|
|
NM_000527.5(LDLR):c.2420_2426del (p.Phe807fs)
|
rs879255209
|
|
|
NM_000527.5(LDLR):c.242dup (p.Cys82fs)
|
rs879254445
|
|
|
NM_000527.5(LDLR):c.2430G>A (p.Trp810Ter)
|
rs879255210
|
|
|
NM_000527.5(LDLR):c.2431A>T (p.Lys811Ter)
|
|
|
|
NM_000527.5(LDLR):c.2438G>A (p.Trp813Ter)
|
rs879255212
|
|
|
NM_000527.5(LDLR):c.2439G>A (p.Trp813Ter)
|
rs121908032
|
|
|
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.244del (p.Cys82fs)
|
rs879254446
|
|
|
NM_000527.5(LDLR):c.246C>A (p.Cys82Ter)
|
rs875989891
|
|
|
NM_000527.5(LDLR):c.2478del (p.Val827fs)
|
rs747344293
|
|
|
NM_000527.5(LDLR):c.2478dup (p.Val827fs)
|
rs747344293
|
|
|
NM_000527.5(LDLR):c.2500_2502delinsC (p.Asp834fs)
|
rs879255219
|
|
|
NM_000527.5(LDLR):c.2509del (p.His837fs)
|
|
|
|
NM_000527.5(LDLR):c.253C>T (p.Gln85Ter)
|
rs875989893
|
|
|
NM_000527.5(LDLR):c.2546C>A (p.Ser849Ter)
|
rs377437226
|
|
|
NM_000527.5(LDLR):c.2547+1G>A
|
rs879255224
|
|
|
NM_000527.5(LDLR):c.2552del (p.Gln851fs)
|
rs879255229
|
|
|
NM_000527.5(LDLR):c.260G>A (p.Trp87Ter)
|
rs879254452
|
|
|
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.285C>A (p.Cys95Ter)
|
rs139400379
|
|
|
NM_000527.5(LDLR):c.28_38del (p.Trp10fs)
|
rs879254385
|
|
|
NM_000527.5(LDLR):c.296C>G (p.Ser99Ter)
|
rs377271627
|
|
|
NM_000527.5(LDLR):c.296_297del (p.Gly98_Ser99insTer)
|
rs879254458
|
|
|
NM_000527.5(LDLR):c.301G>T (p.Glu101Ter)
|
rs144172724
|
|
|
NM_000527.5(LDLR):c.301del (p.Glu101fs)
|
rs879254461
|
|
|
NM_000527.5(LDLR):c.303del (p.Glu101fs)
|
rs764797225
|
|
|
NM_000527.5(LDLR):c.304C>T (p.Gln102Ter)
|
rs563390335
|
|
|
NM_000527.5(LDLR):c.310_313del (p.Cys104fs)
|
rs879254463
|
|
|
NM_000527.5(LDLR):c.313_313+1del
|
rs875989896
|
|
|
NM_000527.5(LDLR):c.318dup (p.Lys107fs)
|
rs875989898
|
|
|
NM_000527.5(LDLR):c.320_332del (p.Lys107fs)
|
|
|
|
NM_000527.5(LDLR):c.320dup (p.Thr108fs)
|
rs879254475
|
|
|
NM_000527.5(LDLR):c.325_337del (p.Cys109fs)
|
rs879254477
|
|
|
NM_000527.5(LDLR):c.327dup (p.Ser110fs)
|
rs879254478
|
|
|
NM_000527.5(LDLR):c.335_344del (p.Asp112fs)
|
rs879254479
|
|
|
NM_000527.5(LDLR):c.337G>T (p.Glu113Ter)
|
|
|
|
NM_000527.5(LDLR):c.338_353del (p.Glu113fs)
|
rs879254480
|
|
|
NM_000527.5(LDLR):c.339dup (p.Phe114fs)
|
rs879254481
|
|
|
NM_000527.5(LDLR):c.33_36dup (p.Ala13fs)
|
rs879254387
|
|
|
NM_000527.5(LDLR):c.350_372dup (p.Gln125fs)
|
rs879254487
|
|
|
NM_000527.5(LDLR):c.353del (p.Asp118fs)
|
rs879254488
|
|
|
NM_000527.5(LDLR):c.356_362del (p.Gly119fs)
|
rs879254490
|
|
|
NM_000527.5(LDLR):c.357del (p.Lys120fs)
|
rs879254491
|
|
|
NM_000527.5(LDLR):c.366dup (p.Ser123fs)
|
rs879254494
|
|
|
NM_000527.5(LDLR):c.369_370del (p.Arg124fs)
|
rs879254496
|
|
|
NM_000527.5(LDLR):c.369_393del (p.Arg124fs)
|
rs879254497
|
|
|
NM_000527.5(LDLR):c.371_372insC (p.Gln125fs)
|
rs879254499
|
|
|
NM_000527.5(LDLR):c.373C>T (p.Gln125Ter)
|
rs875989899
|
|
|
NM_000527.5(LDLR):c.374_375insCTGA (p.Gln125delinsHisTer)
|
rs879254500
|
|
|
NM_000527.5(LDLR):c.382_385del (p.Cys128fs)
|
rs879254504
|
|
|
NM_000527.5(LDLR):c.389C>G (p.Ser130Ter)
|
rs879254509
|
|
|
NM_000527.5(LDLR):c.389dup (p.Asp131fs)
|
rs879254510
|
|
|
NM_000527.5(LDLR):c.397dup (p.Asp133fs)
|
rs879254512
|
|
|
NM_000527.5(LDLR):c.41del (p.Leu14fs)
|
rs879254388
|
|
|
NM_000527.5(LDLR):c.41dup (p.Leu14fs)
|
rs879254388
|
|
|
NM_000527.5(LDLR):c.424_430del (p.Ser142fs)
|
rs879254521
|
|
|
NM_000527.5(LDLR):c.431_434dup (p.Leu146fs)
|
rs879254523
|
|
|
NM_000527.5(LDLR):c.450dup (p.Ala151fs)
|
rs879254530
|
|
|
NM_000527.5(LDLR):c.460C>T (p.Gln154Ter)
|
rs879254534
|
|
|
NM_000527.5(LDLR):c.465C>A (p.Cys155Ter)
|
rs766094434
|
|
|
NM_000527.5(LDLR):c.466_484dup (p.Pro162fs)
|
rs879254537
|
|
|
NM_000527.5(LDLR):c.472del (p.Ser158fs)
|
rs879254538
|
|
|
NM_000527.5(LDLR):c.482_488del (p.Ile161fs)
|
rs879254542
|
|
|
NM_000527.5(LDLR):c.495G>A (p.Trp165Ter)
|
rs879254546
|
|
|
NM_000527.5(LDLR):c.501C>A (p.Cys167Ter)
|
|
|
|
NM_000527.5(LDLR):c.508_509insC (p.Asp170fs)
|
rs879254551
|
|
|
NM_000527.5(LDLR):c.513del (p.Asp172fs)
|
rs879254552
|
|
|
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.526_533dup (p.Asp178fs)
|
rs879254562
|
|
|
NM_000527.5(LDLR):c.532_533insT (p.Asp178fs)
|
rs879254564
|
|
|
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.557del (p.Gly186fs)
|
rs879254573
|
|
|
NM_000527.5(LDLR):c.558_559insG (p.Leu187fs)
|
rs879254574
|
|
|
NM_000527.5(LDLR):c.561_562del (p.Tyr188fs)
|
rs879254575
|
|
|
NM_000527.5(LDLR):c.562del (p.Tyr188fs)
|
rs879254575
|
|
|
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.568_590del (p.Phe190fs)
|
rs879254577
|
|
|
NM_000527.5(LDLR):c.571C>T (p.Gln191Ter)
|
|
|
|
NM_000527.5(LDLR):c.578_584del (p.Asp193fs)
|
rs879254579
|
|
|
NM_000527.5(LDLR):c.578del (p.Asp193fs)
|
rs879254580
|
|
|
NM_000527.5(LDLR):c.581_582insA (p.Ser194fs)
|
rs879254581
|
|
|
NM_000527.5(LDLR):c.583_589del (p.Ser195fs)
|
rs879254582
|
|
|
NM_000527.5(LDLR):c.591C>A (p.Cys197Ter)
|
rs879254584
|
|
|
NM_000527.5(LDLR):c.593C>A (p.Ser198Ter)
|
rs748672083
|
|
|
NM_000527.5(LDLR):c.600del (p.Phe200fs)
|
rs879254588
|
|
|
NM_000527.5(LDLR):c.609del (p.Cys204fs)
|
rs879254591
|
|
|
NM_000527.5(LDLR):c.616dup (p.Ser206fs)
|
rs879254593
|
|
|
NM_000527.5(LDLR):c.617del (p.Ser206fs)
|
rs879254594
|
|
|
NM_000527.5(LDLR):c.621C>T (p.Gly207=)
|
rs121908044
|
|
|
NM_000527.5(LDLR):c.622G>T (p.Glu208Ter)
|
rs879254597
|
|
|
NM_000527.5(LDLR):c.623_644del (p.Glu208fs)
|
rs879254598
|
|
|
NM_000527.5(LDLR):c.625_626dup (p.Ile210fs)
|
rs879254599
|
|
|
NM_000527.5(LDLR):c.642G>A (p.Trp214Ter)
|
rs879254606
|
|
|
NM_000527.5(LDLR):c.645_646del (p.Arg215_Cys216insTer)
|
rs879254608
|
|
|
NM_000527.5(LDLR):c.646del (p.Cys216fs)
|
rs879254609
|
|
|
NM_000527.5(LDLR):c.648_649del (p.Cys216_Asp217delinsTer)
|
rs879254612
|
|
|
NM_000527.5(LDLR):c.648dup (p.Asp217Ter)
|
rs875989903
|
|
|
NM_000527.5(LDLR):c.649_650insT (p.Asp217fs)
|
rs879254614
|
|
|
NM_000527.5(LDLR):c.64del (p.Ala22fs)
|
rs879254393
|
|
|
NM_000527.5(LDLR):c.651_687del (p.Asp217fs)
|
rs879254615
|
|
|
NM_000527.5(LDLR):c.653del (p.Gly218fs)
|
rs137853966
|
|
|
NM_000527.5(LDLR):c.657_661dup (p.Asp221fs)
|
rs879254358
|
|
|
NM_000527.5(LDLR):c.660del (p.Asp221fs)
|
rs875989905
|
|
|
NM_000527.5(LDLR):c.661_673dup (p.Lys225fs)
|
rs1555803428
|
|
|
NM_000527.5(LDLR):c.661_677del (p.Pro220_Asp221insTer)
|
rs879254619
|
|
|
NM_000527.5(LDLR):c.664_681delinsCCGACTG (p.Cys222fs)
|
rs879254622
|
|
|
NM_000527.5(LDLR):c.666C>A (p.Cys222Ter)
|
rs756613387
|
|
|
NM_000527.5(LDLR):c.666_687del (p.Asp221_Cys222insTer)
|
rs879254623
|
|
|
NM_000527.5(LDLR):c.668_681dup (p.Glu228fs)
|
rs1555803424
|
|
|
NM_000527.5(LDLR):c.669_679dup (p.Asp227fs)
|
rs879254625
|
|
|
NM_000527.5(LDLR):c.670dup (p.Asp224fs)
|
rs879254629
|
|
|
NM_000527.5(LDLR):c.673_682delinsTGCAA (p.Lys225fs)
|
rs879254631
|
|
|
NM_000527.5(LDLR):c.675_681dup (p.Glu228delinsIleTer)
|
rs1555803426
|
|
|
NM_000527.5(LDLR):c.675del (p.Lys225fs)
|
rs879254633
|
|
|
NM_000527.5(LDLR):c.68-1G>C
|
rs879254397
|
|
|
NM_000527.5(LDLR):c.680_681del (p.Asp227fs)
|
rs387906305
|
|
|
NM_000527.5(LDLR):c.681_682insTGAG (p.Glu228Ter)
|
rs1555803427
|
|
|
NM_000527.5(LDLR):c.682del (p.Glu228fs)
|
rs879254640
|
|
|
NM_000527.5(LDLR):c.693C>A (p.Cys231Ter)
|
|
|
|
NM_000527.5(LDLR):c.693_694+20del
|
rs879254645
|
|
|
NM_000527.5(LDLR):c.694_695del (p.Ala232fs)
|
|
|
|
NM_000527.5(LDLR):c.695-356_940+1059del
|
|
|
|
NM_000527.5(LDLR):c.695-6_698del
|
rs879254651
|
|
|
NM_000527.5(LDLR):c.6del (p.Trp4fs)
|
rs875989888
|
|
|
NM_000527.5(LDLR):c.703dup (p.Thr235fs)
|
rs1555803643
|
|
|
NM_000527.5(LDLR):c.705dup (p.Cys236fs)
|
rs879254653
|
|
|
NM_000527.5(LDLR):c.708dup (p.Arg237fs)
|
rs879254656
|
|
|
NM_000527.5(LDLR):c.718G>T (p.Glu240Ter)
|
rs768563000
|
|
|
NM_000527.5(LDLR):c.724C>T (p.Gln242Ter)
|
rs879254658
|
|
|
NM_000527.5(LDLR):c.737del (p.Gly246fs)
|
rs879254660
|
|
|
NM_000527.5(LDLR):c.744C>A (p.Cys248Ter)
|
rs879254664
|
|
|
NM_000527.5(LDLR):c.752dup (p.Ser252fs)
|
rs879254666
|
|
|
NM_000527.5(LDLR):c.760C>T (p.Gln254Ter)
|
rs759109699
|
|
|
NM_000527.5(LDLR):c.76A>T (p.Arg26Ter)
|
rs879254398
|
|
|
NM_000527.5(LDLR):c.76del (p.Arg26fs)
|
rs879254399
|
|
|
NM_000527.5(LDLR):c.776_777del (p.Glu258_Tyr259insTer)
|
rs879254673
|
|
|
NM_000527.5(LDLR):c.77_78del (p.Arg26fs)
|
rs879254400
|
|
|
NM_000527.5(LDLR):c.781del (p.Cys261fs)
|
rs879254674
|
|
|
NM_000527.5(LDLR):c.790_793del (p.Met264fs)
|
rs879254675
|
|
|
NM_000527.5(LDLR):c.796_799del (p.Asp266fs)
|
rs879254677
|
|
|
NM_000527.5(LDLR):c.810C>A (p.Cys270Ter)
|
rs773328511
|
|
|
NM_000527.5(LDLR):c.814_817del (p.Val271_Asn272insTer)
|
rs879254684
|
|
|
NM_000527.5(LDLR):c.818-2A>G
|
|
|
|
NM_000527.5(LDLR):c.81C>A (p.Cys27Ter)
|
rs2228671
|
|
|
NM_000527.5(LDLR):c.820_827del (p.Thr274fs)
|
rs879254689
|
|
|
NM_000527.5(LDLR):c.825_826del (p.Cys276fs)
|
rs879254691
|
|
|
NM_000527.5(LDLR):c.828C>A (p.Cys276Ter)
|
rs146651743
|
|
|
NM_000527.5(LDLR):c.82G>T (p.Glu28Ter)
|
rs551747280
|
|
|
NM_000527.5(LDLR):c.85A>T (p.Arg29Ter)
|
rs879254401
|
|
|
NM_000527.5(LDLR):c.862G>T (p.Glu288Ter)
|
|
|
|
NM_000527.5(LDLR):c.865del (p.Cys289fs)
|
rs879254696
|
|
|
NM_000527.5(LDLR):c.874del (p.Leu292fs)
|
rs879254700
|
|
|
NM_000527.5(LDLR):c.875dup (p.Asp293fs)
|
rs879254701
|
|
|
NM_000527.5(LDLR):c.877del (p.Asp293fs)
|
rs879254702
|
|
|
NM_000527.5(LDLR):c.881_882del (p.Lys294fs)
|
rs879254704
|
|
|
NM_000527.5(LDLR):c.884del (p.Val295fs)
|
rs879254705
|
|
|
NM_000527.5(LDLR):c.887_889delinsAGC (p.Cys296_Asn297delinsTer)
|
rs879254706
|
|
|
NM_000527.5(LDLR):c.888C>A (p.Cys296Ter)
|
rs879254708
|
|
|
NM_000527.5(LDLR):c.890del (p.Asn297fs)
|
rs879254710
|
|
|
NM_000527.5(LDLR):c.896del (p.Ala299fs)
|
rs879254712
|
|
|
NM_000527.5(LDLR):c.898A>T (p.Arg300Ter)
|
rs767618089
|
|
|
NM_000527.5(LDLR):c.914G>A (p.Trp305Ter)
|
rs879254717
|
|
|
NM_000527.5(LDLR):c.915G>A (p.Trp305Ter)
|
rs757252110
|
|
|
NM_000527.5(LDLR):c.916_919dup (p.Asp307fs)
|
rs879254718
|
|
|
NM_000527.5(LDLR):c.917C>A (p.Ser306Ter)
|
rs11547917
|
|
|
NM_000527.5(LDLR):c.917C>G (p.Ser306Ter)
|
rs11547917
|
|
|
NM_000527.5(LDLR):c.91G>T (p.Glu31Ter)
|
rs776421777
|
|
|
NM_000527.5(LDLR):c.925_931del (p.Pro309fs)
|
rs387906304
|
|
|
NM_000527.5(LDLR):c.932_933del (p.Lys311fs)
|
rs879254723
|
|
|
NM_000527.5(LDLR):c.933del (p.Glu312fs)
|
rs879254723
|
|
|
NM_000527.5(LDLR):c.934G>T (p.Glu312Ter)
|
rs879254725
|
|
|
NM_000527.5(LDLR):c.935_936del (p.Glu312fs)
|
|
|
|
NM_000527.5(LDLR):c.939C>A (p.Cys313Ter)
|
rs13306512
|
|
|
NM_000527.5(LDLR):c.939_940+3del
|
rs879254727
|
|
|
NM_000527.5(LDLR):c.93_99del (p.Glu31fs)
|
rs879254402
|
|
|
NM_000527.5(LDLR):c.946_994del (p.Asn316fs)
|
rs879254736
|
|
|
NM_000527.5(LDLR):c.949G>T (p.Glu317Ter)
|
rs746834464
|
|
|
NM_000527.5(LDLR):c.951del (p.Glu317fs)
|
rs879254737
|
|
|
NM_000527.5(LDLR):c.961_962del (p.Asn321fs)
|
rs879254740
|
|
|
NM_000527.5(LDLR):c.968del (p.Gly323fs)
|
rs879254743
|
|
|
NM_000527.5(LDLR):c.969del (p.Gly324fs)
|
rs879254744
|
|
|
NM_000527.5(LDLR):c.971del (p.Gly324fs)
|
rs879254745
|
|
|
NM_000527.5(LDLR):c.97C>T (p.Gln33Ter)
|
|
|
|
NM_000527.5(LDLR):c.980dup (p.His327fs)
|
rs879254748
|
|
|
NM_000527.5(LDLR):c.99del (p.Gln33fs)
|
rs879254404
|
|
|
NM_000527.5(LDLR):c.9del (p.Trp4fs)
|
rs879254384
|
|
|
NM_000527.5:c.(67+1_68-1)_(1845+1_1846-1)del
|
|
|
|
c.(1060+1_1061-1)_(1586+1_1587-1)dup
|
|
|
|
c.(1060+1_1061-1)_(1845+1_1846-1)del
|
|
|
|
c.(1186+1_1187-1)_(*2514_?)del
|
|
|
|
c.(1186+1_1187-1)_(1358+1_1359-1)del
|
|
|
|
c.(1186+1_1187-1)_(1358+1_1359-1)dup
|
|
|
|
c.(1186+1_1187-1)_(1586+1_1587-1)dup
|
|
|
|
c.(1186+1_1187-1)_(1845+1_1846-1)del
|
|
|
|
c.(1186+1_1187-1)_(1845+1_1846-1)dup
|
|
|
|
c.(1186+1_1187-1)_(2140+1_2141-1)del
|
|
|
|
c.(1186+1_1187-1)_(2140+1_2141-1)dup
|
|
|
|
c.(1586+1_1587-1)_(*2514_?)del
|
|
|
|
c.(1586+1_1587-1)_(1705+1_1706-1)del
|
|
|
|
c.(1586+1_1587-1)_(1845+1_1846-1)del
|
|
|
|
c.(1586+1_1587-1)_(1845+1_1846-1)dup
|
|
|
|
c.(1586+1_1587-1)_(2140+1_2141-1)del
|
|
|
|
c.(1586+1_1587-1)_(2140+1_2141-1)dup
|
|
|
|
c.(1586+1_1587-1)_(2311+1_2312-1)del
|
|
|
|
c.(1586+1_1587-1)_(2389+1_2390-1)del
|
|
|
|
c.(1586+1_1587-1)_(2547+1_2548-1)del
|
|
|
|
c.(1705+1_1706-1)_(*2514_?)del
|
|
|
|
c.(1705+1_1706-1)_(1845+1_1846-1)del
|
|
|
|
c.(1705+1_1706-1)_(1845+1_1846-1)dup
|
|
|
|
c.(1705+1_1706-1)_(2389+1_2390-1)del
|
|
|
|
c.(1845+1_1846-1)_(*2514_?)del
|
|
|
|
c.(1845+1_1846-1)_(2140+1_2141-1)dup
|
|
|
|
c.(1845+1_1846-1)_(2311+1_2312-1)del
|
|
|
|
c.(190+1_191-1)_(1060+1_1061-1)del
|
|
|
|
c.(190+1_191-1)_(1586+1_1587-1)del
|
|
|
|
c.(190+1_191-1)_(1845+1_1846-1)del
|
|
|
|
c.(190+1_191-1)_(1845+1_1846-1)dup
|
|
|
|
c.(190+1_191-1)_(313+1_314-1)del
|
|
|
|
c.(190+1_191-1)_(694+1_695-1)del
|
|
|
|
c.(190+1_191-1)_(817+1_818-1)del
|
|
|
|
c.(190+1_191-1)_(940+1_941-1)del
|
|
|
|
c.(1987+1_1988-1)_(2311+1_2312-1)del
|
|
|
|
c.(2140+1_2141-1)_(*2514_?)del
|
|
|
|
c.(2311+1_2312-1)_(*220_?)del
|
|
|
|
c.(2311+1_2312-1)_(*2514_?)del
|
|
|
|
c.(2311+1_2312-1)_(2547+1_2548-1)dup
|
|
|
|
c.(2311+1_2312-1)_*807del
|
|
|
|
c.(2389+1_2390-1)_(*2514_?)del
|
|
|
|
c.(313+1_314-1)_(694+1_695-1)del
|
|
|
|
c.(67+1_68-1)_(1586+1_1587-1)del
|
|
|
|
c.(67+1_68-1)_(1705+1_1706-1)del
|
|
|
|
c.(67+1_68-1)_(190+1_191-1)del
|
|
|
|
c.(67+1_68-1)_(2140+1_2141-1)del
|
|
|
|
c.(67+1_68-1)_(2547+1_2548-1)del
|
|
|
|
c.(67+1_68-1)_(694+1_695-1)del
|
|
|
|
c.(67+1_68-1)_(817+1_818-1)del
|
|
|
|
c.(694+1_695-1)_(1586+1_1587-1)del
|
|
|
|
c.(694+1_695-1)_(940+1_941-1)del
|
|
|
|
c.(817+1_818-1)_(*2514_?)del
|
|
|
|
c.(817+1_818-1)_(1186+1_1187-1)del
|
|
|
|
c.(817+1_818-1)_(940+1_941-1)del
|
|
|
|
c.(940+1_941-1)_(*2514_?)dup
|
|
|
|
c.(940+1_941-1)_(1586+1_1587-1)del
|
|
|
|
c.(940+1_941-1)_(1586+1_1587-1)dup
|
|
|
|
c.(940+1_941-1)_(1845+1_1846-1)del
|
|
|
|
c.(940+1_941-1)_(1845+1_1846-1)dup
|
|
|
|
c.(940+1_941-1)_(2140+1_2141-1)del
|
|
|
|
c.(940+1_941-1)_(2311+1_2312-1)del
|
|
|
|
c.(?_-187)_(1060+1_1061-1)del
|
|
|
|
c.(?_-187)_(1186+1_1187-1)del
|
|
|
|
c.(?_-187)_(1845+1_1846-1)del
|
|
|
|
c.(?_-187)_(190+1_191-1)del
|
|
|
|
c.(?_-187)_(2140+1_2141-1)del
|
|
|
|
c.(?_-187)_(2311+1_2312-1)del
|
|
|
|
c.(?_-187)_(67+1_68-1)del
|
|
|
|
c.(?_-187)_(940+1_941-1)del
|
|
|
|
c.(?_-187)_*2584del
|
|
|