NM_000527.5(LDLR):c.2282C>T (p.Thr761Met)
|
rs138477254
|
0.00006
|
NM_000527.5(LDLR):c.910G>A (p.Asp304Asn)
|
rs121908030
|
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.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.682G>T (p.Glu228Ter)
|
rs121908029
|
0.00003
|
NM_000527.5(LDLR):c.862G>A (p.Glu288Lys)
|
rs368657165
|
0.00003
|
NM_000527.5(LDLR):c.1733T>C (p.Val578Ala)
|
rs72658864
|
0.00002
|
NM_000527.5(LDLR):c.1774G>A (p.Gly592Arg)
|
rs763147599
|
0.00002
|
NM_000527.5(LDLR):c.268G>A (p.Asp90Asn)
|
rs749038326
|
0.00002
|
NM_000527.5(LDLR):c.1133A>C (p.Gln378Pro)
|
rs730882098
|
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.1329G>C (p.Trp443Cys)
|
rs879254867
|
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.1730G>C (p.Trp577Ser)
|
rs138947766
|
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.2140G>T (p.Glu714Ter)
|
rs869320652
|
0.00001
|
NM_000527.5(LDLR):c.2167G>T (p.Glu723Ter)
|
rs1057516127
|
0.00001
|
NM_000527.5(LDLR):c.2230C>T (p.Arg744Ter)
|
rs200793488
|
0.00001
|
NM_000527.5(LDLR):c.259T>G (p.Trp87Gly)
|
rs121908025
|
0.00001
|
NM_000527.5(LDLR):c.301G>A (p.Glu101Lys)
|
rs144172724
|
0.00001
|
NM_000527.5(LDLR):c.313+2T>C
|
rs793888517
|
0.00001
|
NM_000527.5(LDLR):c.325T>C (p.Cys109Arg)
|
rs140807148
|
0.00001
|
NM_000527.5(LDLR):c.429C>A (p.Cys143Ter)
|
rs199774121
|
0.00001
|
NM_000527.5(LDLR):c.523G>A (p.Asp175Asn)
|
rs121908033
|
0.00001
|
NM_000527.5(LDLR):c.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.846C>A (p.Phe282Leu)
|
rs730882090
|
0.00001
|
NM_000527.5(LDLR):c.898A>G (p.Arg300Gly)
|
rs767618089
|
0.00001
|
NM_000527.5(LDLR):c.949G>A (p.Glu317Lys)
|
rs746834464
|
0.00001
|
FH Aarhus
|
|
|
NM_000527.4(LDLR):c.-135C>G
|
|
|
NM_000527.4(LDLR):c.-142C>G
|
rs879254370
|
|
NM_000527.4(LDLR):c.-229_-90del
|
rs1555800611
|
|
NM_000527.4(LDLR):c.313+1G>A
|
|
|
NM_000527.4(LDLR):c.694+2T>C
|
rs200238879
|
|
NM_000527.4:c.[829G>A;1268T>C]
|
|
|
NM_000527.4:c.[932A>G;939C>G]
|
|
|
NM_000527.5(LDLR):c.-188C>T
|
rs878854023
|
|
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.100T>G (p.Cys34Gly)
|
rs879254405
|
|
NM_000527.5(LDLR):c.1027G>A (p.Gly343Ser)
|
|
|
NM_000527.5(LDLR):c.1028G>A (p.Gly343Asp)
|
rs879254760
|
|
NM_000527.5(LDLR):c.1031del (p.Phe344fs)
|
rs879254761
|
|
NM_000527.5(LDLR):c.1042del (p.Ala348fs)
|
rs879254764
|
|
NM_000527.5(LDLR):c.1056_1060+3del
|
rs879254770
|
|
NM_000527.5(LDLR):c.1057G>T (p.Glu353Ter)
|
rs370471092
|
|
NM_000527.5(LDLR):c.1061-1G>A
|
rs879254774
|
|
NM_000527.5(LDLR):c.1067del (p.Asp356fs)
|
rs879254778
|
|
NM_000527.5(LDLR):c.1069G>A (p.Glu357Lys)
|
rs879254781
|
|
NM_000527.5(LDLR):c.1081C>T (p.Pro361Ser)
|
rs1131692203
|
|
NM_000527.5(LDLR):c.1099_1104delinsGT (p.Leu367fs)
|
|
|
NM_000527.5(LDLR):c.1102T>C (p.Cys368Arg)
|
rs879254791
|
|
NM_000527.5(LDLR):c.1103G>A (p.Cys368Tyr)
|
|
|
NM_000527.5(LDLR):c.1114G>T (p.Glu372Ter)
|
rs1131692204
|
|
NM_000527.5(LDLR):c.1118G>A (p.Gly373Asp)
|
|
|
NM_000527.5(LDLR):c.1124A>G (p.Tyr375Cys)
|
rs879254800
|
|
NM_000527.5(LDLR):c.1130del (p.Cys377fs)
|
rs1131692205
|
|
NM_000527.5(LDLR):c.1150C>T (p.Gln384Ter)
|
rs879254805
|
|
NM_000527.5(LDLR):c.116G>T (p.Cys39Phe)
|
rs1131692189
|
|
NM_000527.5(LDLR):c.1174T>C (p.Cys392Arg)
|
rs879254814
|
|
NM_000527.5(LDLR):c.1175G>A (p.Cys392Tyr)
|
|
|
NM_000527.5(LDLR):c.1176C>A (p.Cys392Ter)
|
|
|
NM_000527.5(LDLR):c.1187-10G>A
|
|
|
NM_000527.5(LDLR):c.1187-1G>A
|
rs879254824
|
|
NM_000527.5(LDLR):c.1209del (p.Phe403fs)
|
rs879254833
|
|
NM_000527.5(LDLR):c.1215C>G (p.Asn405Lys)
|
rs879254837
|
|
NM_000527.5(LDLR):c.1216C>T (p.Arg406Trp)
|
|
|
NM_000527.5(LDLR):c.1243G>C (p.Asp415His)
|
rs879254844
|
|
NM_000527.5(LDLR):c.1246C>T (p.Arg416Trp)
|
|
|
NM_000527.5(LDLR):c.1277T>C (p.Leu426Pro)
|
rs879254851
|
|
NM_000527.5(LDLR):c.1285G>A (p.Val429Met)
|
|
|
NM_000527.5(LDLR):c.1291G>A (p.Ala431Thr)
|
|
|
NM_000527.5(LDLR):c.12G>A (p.Trp4Ter)
|
rs756039188
|
|
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.1323C>G (p.Ile441Met)
|
rs5933
|
|
NM_000527.5(LDLR):c.1328G>C (p.Trp443Ser)
|
rs879254866
|
|
NM_000527.5(LDLR):c.1342C>T (p.Gln448Ter)
|
|
|
NM_000527.5(LDLR):c.1358+1G>A
|
rs775924858
|
|
NM_000527.5(LDLR):c.136T>G (p.Cys46Gly)
|
rs879254415
|
|
NM_000527.5(LDLR):c.1392del (p.Tyr465fs)
|
rs879254888
|
|
NM_000527.5(LDLR):c.1427C>T (p.Pro476Leu)
|
rs1131692208
|
|
NM_000527.5(LDLR):c.1432G>A (p.Gly478Arg)
|
|
|
NM_000527.5(LDLR):c.1456del (p.Ser486fs)
|
rs1131692209
|
|
NM_000527.5(LDLR):c.1463T>A (p.Ile488Asn)
|
rs879254913
|
|
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.1495T>C (p.Ser499Pro)
|
rs879254921
|
|
NM_000527.5(LDLR):c.1529del (p.Thr510fs)
|
rs1057519673
|
|
NM_000527.5(LDLR):c.1530del (p.Leu511fs)
|
rs1131692210
|
|
NM_000527.5(LDLR):c.1549_1555del (p.Ser517fs)
|
rs879254935
|
|
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.1566del (p.Ile522fs)
|
rs1131692211
|
|
NM_000527.5(LDLR):c.1567G>A (p.Val523Met)
|
|
|
NM_000527.5(LDLR):c.1568TGG[1] (p.Val524del)
|
|
|
NM_000527.5(LDLR):c.1586+2T>C
|
rs879254945
|
|
NM_000527.5(LDLR):c.1618G>A (p.Ala540Thr)
|
|
|
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.1637G>A (p.Gly546Asp)
|
|
|
NM_000527.5(LDLR):c.1646G>A (p.Gly549Asp)
|
|
|
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.1681C>T (p.Gln561Ter)
|
rs879254981
|
|
NM_000527.5(LDLR):c.1686G>A (p.Trp562Ter)
|
rs879254985
|
|
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.1703T>C (p.Leu568Pro)
|
rs879254991
|
|
NM_000527.5(LDLR):c.1715_1719delinsA (p.Ser572fs)
|
rs875989927
|
|
NM_000527.5(LDLR):c.1718del (p.Gly573fs)
|
rs879254998
|
|
NM_000527.5(LDLR):c.1730G>A (p.Trp577Ter)
|
rs138947766
|
|
NM_000527.5(LDLR):c.1736_1737delinsT (p.Asp579fs)
|
rs1131692214
|
|
NM_000527.5(LDLR):c.1737del (p.Ser580fs)
|
rs879255005
|
|
NM_000527.5(LDLR):c.1738_1739insTGT (p.Asp579_Ser580insLeu)
|
rs1131692215
|
|
NM_000527.5(LDLR):c.1744C>T (p.Leu582Phe)
|
rs1131692216
|
|
NM_000527.5(LDLR):c.1744_1745insA (p.Leu582fs)
|
rs1131692217
|
|
NM_000527.5(LDLR):c.1752del (p.Ile585fs)
|
rs879255011
|
|
NM_000527.5(LDLR):c.1775G>A (p.Gly592Glu)
|
|
|
NM_000527.5(LDLR):c.1783C>T (p.Arg595Trp)
|
|
|
NM_000527.5(LDLR):c.178del (p.Gln60fs)
|
rs1555802312
|
|
NM_000527.5(LDLR):c.1796T>C (p.Leu599Ser)
|
rs879255025
|
|
NM_000527.5(LDLR):c.1798G>T (p.Glu600Ter)
|
rs879255026
|
|
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.1829_1840dup (p.Ser610_Val613dup)
|
rs1555806546
|
|
NM_000527.5(LDLR):c.1845+1G>A
|
rs879255049
|
|
NM_000527.5(LDLR):c.1845+1G>C
|
|
|
NM_000527.5(LDLR):c.1846_1865del (p.Asp616fs)
|
rs1131692219
|
|
NM_000527.5(LDLR):c.1853T>G (p.Val618Gly)
|
rs1057519677
|
|
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.1859G>A (p.Trp620Ter)
|
|
|
NM_000527.5(LDLR):c.1860G>A (p.Trp620Ter)
|
rs875989933
|
|
NM_000527.5(LDLR):c.1862C>G (p.Thr621Arg)
|
rs879255058
|
|
NM_000527.5(LDLR):c.1868TCA[1] (p.Ile624del)
|
|
|
NM_000527.5(LDLR):c.1876G>A (p.Glu626Lys)
|
|
|
NM_000527.5(LDLR):c.1880C>A (p.Ala627Asp)
|
rs875989934
|
|
NM_000527.5(LDLR):c.1897C>T (p.Arg633Cys)
|
|
|
NM_000527.5(LDLR):c.191-1G>A
|
rs879254433
|
|
NM_000527.5(LDLR):c.1934dup (p.Asn645fs)
|
rs879255076
|
|
NM_000527.5(LDLR):c.1948_1952dup (p.Asp651fs)
|
rs1555807275
|
|
NM_000527.5(LDLR):c.1965C>G (p.Phe655Leu)
|
rs879255090
|
|
NM_000527.5(LDLR):c.1988G>C (p.Gly663Ala)
|
rs879255102
|
|
NM_000527.5(LDLR):c.1998G>A (p.Trp666Ter)
|
rs752935814
|
|
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.2030_2042del (p.Cys677fs)
|
rs879255113
|
|
NM_000527.5(LDLR):c.2042G>A (p.Cys681Tyr)
|
rs201637900
|
|
NM_000527.5(LDLR):c.2043C>A (p.Cys681Ter)
|
|
|
NM_000527.5(LDLR):c.2044C>T (p.Leu682Phe)
|
rs1131692220
|
|
NM_000527.5(LDLR):c.2054C>T (p.Pro685Leu)
|
|
|
NM_000527.5(LDLR):c.2061del (p.Asn688fs)
|
rs1131692221
|
|
NM_000527.5(LDLR):c.2068del (p.His690fs)
|
rs879255130
|
|
NM_000527.5(LDLR):c.2087G>A (p.Cys696Tyr)
|
rs879255134
|
|
NM_000527.5(LDLR):c.2096C>T (p.Pro699Leu)
|
|
|
NM_000527.5(LDLR):c.2164C>T (p.Gln722Ter)
|
|
|
NM_000527.5(LDLR):c.2187_2197del (p.Lys730fs)
|
rs879255159
|
|
NM_000527.5(LDLR):c.2270del (p.Pro757fs)
|
rs1131692223
|
|
NM_000527.5(LDLR):c.2271del (p.Leu759fs)
|
|
|
NM_000527.5(LDLR):c.2311+1G>T
|
|
|
NM_000527.5(LDLR):c.2311+2T>G
|
rs879255176
|
|
NM_000527.5(LDLR):c.2323_2352del (p.Val775_Pro784del)
|
rs1131692224
|
|
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.2393_2409del (p.Leu798fs)
|
rs1131692225
|
|
NM_000527.5(LDLR):c.2397_2405del (p.Val800_Leu802del)
|
|
|
NM_000527.5(LDLR):c.2416del (p.Val806fs)
|
rs773618064
|
|
NM_000527.5(LDLR):c.2416dup (p.Val806fs)
|
|
|
NM_000527.5(LDLR):c.2422C>G (p.Leu808Val)
|
rs1131692226
|
|
NM_000527.5(LDLR):c.2447_2450dup (p.Asn817fs)
|
rs387906302
|
|
NM_000527.5(LDLR):c.245G>A (p.Cys82Tyr)
|
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.2509del (p.His837fs)
|
|
|
NM_000527.5(LDLR):c.251_252insCATTCTG (p.Gln85fs)
|
rs1131692191
|
|
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.298G>A (p.Asp100Asn)
|
rs879254459
|
|
NM_000527.5(LDLR):c.301G>T (p.Glu101Ter)
|
rs144172724
|
|
NM_000527.5(LDLR):c.304C>T (p.Gln102Ter)
|
rs563390335
|
|
NM_000527.5(LDLR):c.311G>C (p.Cys104Ser)
|
rs875989895
|
|
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_313+1del
|
rs875989896
|
|
NM_000527.5(LDLR):c.314-1G>T
|
rs879254471
|
|
NM_000527.5(LDLR):c.318_336del (p.Lys107fs)
|
rs1131692192
|
|
NM_000527.5(LDLR):c.326G>T (p.Cys109Phe)
|
rs121908042
|
|
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.374_375insCTGA (p.Gln125delinsHisTer)
|
rs879254500
|
|
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.416A>G (p.Asp139Gly)
|
rs879254518
|
|
NM_000527.5(LDLR):c.416A>T (p.Asp139Val)
|
rs879254518
|
|
NM_000527.5(LDLR):c.417C>A (p.Asp139Glu)
|
rs537484504
|
|
NM_000527.5(LDLR):c.418G>A (p.Glu140Lys)
|
|
|
NM_000527.5(LDLR):c.41dup (p.Leu14fs)
|
rs879254388
|
|
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.442T>C (p.Cys148Arg)
|
rs879254525
|
|
NM_000527.5(LDLR):c.442_504delinsA (p.Cys148fs)
|
rs1555803259
|
|
NM_000527.5(LDLR):c.443G>C (p.Cys148Ser)
|
rs879254526
|
|
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.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.518del (p.Cys173fs)
|
rs879254559
|
|
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.519_532del (p.Cys173_Asp178delinsTer)
|
rs1131692193
|
|
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.534T>G (p.Asp178Glu)
|
rs879254566
|
|
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.551G>A (p.Cys184Tyr)
|
|
|
NM_000527.5(LDLR):c.551G>C (p.Cys184Ser)
|
rs121908039
|
|
NM_000527.5(LDLR):c.565_568delinsTG (p.Val189fs)
|
rs1131692195
|
|
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.618_638del (p.Gly207_Ser213del)
|
rs886039830
|
|
NM_000527.5(LDLR):c.621C>T (p.Gly207=)
|
rs121908044
|
|
NM_000527.5(LDLR):c.626G>A (p.Cys209Tyr)
|
rs879254600
|
|
NM_000527.5(LDLR):c.648dup (p.Asp217Ter)
|
rs875989903
|
|
NM_000527.5(LDLR):c.651TGG[1] (p.Gly219del)
|
rs121908027
|
|
NM_000527.5(LDLR):c.662A>G (p.Asp221Gly)
|
|
|
NM_000527.5(LDLR):c.666_688del (p.Cys222_Asn230delinsTer)
|
rs1131692197
|
|
NM_000527.5(LDLR):c.669_683delinsAACTGCGGTAAACTGCGGTAAACT (p.Asp224_Glu228delinsThrAlaValAsnCysGlyLysLeu)
|
rs1131692198
|
|
NM_000527.5(LDLR):c.67+2T>A
|
rs879254394
|
|
NM_000527.5(LDLR):c.670G>A (p.Asp224Asn)
|
rs387906303
|
|
NM_000527.5(LDLR):c.680_682delinsCA (p.Asp227fs)
|
rs879254637
|
|
NM_000527.5(LDLR):c.681C>G (p.Asp227Glu)
|
rs121908028
|
|
NM_000527.5(LDLR):c.681del (p.Asp227fs)
|
rs1057519661
|
|
NM_000527.5(LDLR):c.682G>A (p.Glu228Lys)
|
|
|
NM_000527.5(LDLR):c.682G>C (p.Glu228Gln)
|
|
|
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.693_694+20del
|
rs879254645
|
|
NM_000527.5(LDLR):c.724C>T (p.Gln242Ter)
|
rs879254658
|
|
NM_000527.5(LDLR):c.743G>T (p.Cys248Phe)
|
rs879254663
|
|
NM_000527.5(LDLR):c.752dup (p.Ser252fs)
|
rs879254666
|
|
NM_000527.5(LDLR):c.757C>T (p.Arg253Trp)
|
|
|
NM_000527.5(LDLR):c.761A>C (p.Gln254Pro)
|
rs879254667
|
|
NM_000527.5(LDLR):c.767A>G (p.Asp256Gly)
|
rs879254670
|
|
NM_000527.5(LDLR):c.805G>A (p.Gly269Ser)
|
rs1131692200
|
|
NM_000527.5(LDLR):c.818-1G>A
|
rs879254688
|
|
NM_000527.5(LDLR):c.81C>A (p.Cys27Ter)
|
rs2228671
|
|
NM_000527.5(LDLR):c.81C>G (p.Cys27Trp)
|
|
|
NM_000527.5(LDLR):c.829G>T (p.Glu277Ter)
|
rs148698650
|
|
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.860del (p.Gly287fs)
|
rs1131692201
|
|
NM_000527.5(LDLR):c.875dup (p.Asp293fs)
|
rs879254701
|
|
NM_000527.5(LDLR):c.882_883del (p.Lys294fs)
|
rs1131692202
|
|
NM_000527.5(LDLR):c.905G>T (p.Cys302Phe)
|
rs879254715
|
|
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.91G>T (p.Glu31Ter)
|
rs776421777
|
|
NM_000527.5(LDLR):c.921T>G (p.Asp307Glu)
|
rs879254720
|
|
NM_000527.5(LDLR):c.932_933del (p.Lys311fs)
|
rs879254723
|
|
NM_000527.5(LDLR):c.939C>A (p.Cys313Ter)
|
rs13306512
|
|
NM_000527.5(LDLR):c.940+1G>C
|
rs879254729
|
|
NM_000527.5(LDLR):c.940+2T>A
|
rs875989912
|
|
NM_000527.5(LDLR):c.961AAC[1] (p.Asn322del)
|
|
|
NM_000527.5(LDLR):c.965A>T (p.Asn322Ile)
|
rs879254742
|
|
NM_000527.5(LDLR):c.970G>A (p.Gly324Ser)
|
|
|
NM_000527.5(LDLR):c.97C>T (p.Gln33Ter)
|
|
|
NM_000527.5(LDLR):c.985T>G (p.Cys329Gly)
|
rs879254749
|
|