|
NM_000527.5(LDLR):c.58G>A (p.Gly20Arg)
|
rs147509697
|
0.00053
|
|
NM_000527.5(LDLR):c.1867A>G (p.Ile623Val)
|
rs555292896
|
0.00013
|
|
NM_000527.5(LDLR):c.2101G>A (p.Gly701Ser)
|
rs368838866
|
0.00012
|
|
NM_000527.5(LDLR):c.2106G>A (p.Met702Ile)
|
rs140731590
|
0.00011
|
|
NM_000527.5(LDLR):c.643C>T (p.Arg215Cys)
|
rs764042910
|
0.00011
|
|
NM_000527.5(LDLR):c.907C>T (p.Arg303Trp)
|
rs151207122
|
0.00009
|
|
NM_000527.5(LDLR):c.2252G>A (p.Arg751Gln)
|
rs200142970
|
0.00007
|
|
NM_000527.5(LDLR):c.1516G>A (p.Val506Met)
|
rs373848925
|
0.00006
|
|
NM_000527.5(LDLR):c.2098G>A (p.Asp700Asn)
|
rs375009082
|
0.00006
|
|
NM_000527.5(LDLR):c.2282C>T (p.Thr761Met)
|
rs138477254
|
0.00006
|
|
NM_000527.5(LDLR):c.344G>A (p.Arg115His)
|
rs201102461
|
0.00006
|
|
NM_000527.5(LDLR):c.910G>A (p.Asp304Asn)
|
rs121908030
|
0.00006
|
|
NM_000527.5(LDLR):c.967G>A (p.Gly323Ser)
|
rs373869746
|
0.00006
|
|
NM_000527.5(LDLR):c.979C>T (p.His327Tyr)
|
rs747507019
|
0.00006
|
|
NM_000527.5(LDLR):c.1003G>A (p.Gly335Ser)
|
rs544453230
|
0.00004
|
|
NM_000527.5(LDLR):c.1444G>A (p.Asp482Asn)
|
rs139624145
|
0.00004
|
|
NM_000527.5(LDLR):c.1868T>C (p.Ile623Thr)
|
rs141155833
|
0.00004
|
|
NM_000527.5(LDLR):c.232C>T (p.Arg78Cys)
|
rs370860696
|
0.00004
|
|
NM_000527.5(LDLR):c.590G>A (p.Cys197Tyr)
|
rs376459828
|
0.00004
|
|
NM_000527.5(LDLR):c.718G>A (p.Glu240Lys)
|
rs768563000
|
0.00004
|
|
NM_000527.5(LDLR):c.798T>A (p.Asp266Glu)
|
rs139043155
|
0.00004
|
|
NM_000527.5(LDLR):c.1061A>T (p.Asp354Val)
|
rs755449669
|
0.00003
|
|
NM_000527.5(LDLR):c.1247G>A (p.Arg416Gln)
|
rs773658037
|
0.00003
|
|
NM_000527.5(LDLR):c.1474G>C (p.Asp492His)
|
rs373646964
|
0.00003
|
|
NM_000527.5(LDLR):c.1747C>T (p.His583Tyr)
|
rs730882109
|
0.00003
|
|
NM_000527.5(LDLR):c.1835C>T (p.Ala612Val)
|
rs377449975
|
0.00003
|
|
NM_000527.5(LDLR):c.1954A>G (p.Met652Val)
|
rs730882111
|
0.00003
|
|
NM_000527.5(LDLR):c.2411T>C (p.Leu804Pro)
|
rs879255203
|
0.00003
|
|
NM_000527.5(LDLR):c.2448G>C (p.Lys816Asn)
|
rs1399689294
|
0.00003
|
|
NM_000527.5(LDLR):c.292G>A (p.Gly98Ser)
|
rs750474121
|
0.00003
|
|
NM_000527.5(LDLR):c.343C>T (p.Arg115Cys)
|
rs774723292
|
0.00003
|
|
NM_000527.5(LDLR):c.514G>A (p.Asp172Asn)
|
rs879254554
|
0.00003
|
|
NM_000527.5(LDLR):c.682G>T (p.Glu228Ter)
|
rs121908029
|
0.00003
|
|
NM_000527.5(LDLR):c.731C>G (p.Ser244Cys)
|
rs1208667598
|
0.00003
|
|
NM_000527.5(LDLR):c.82G>A (p.Glu28Lys)
|
rs551747280
|
0.00003
|
|
NM_000527.5(LDLR):c.862G>A (p.Glu288Lys)
|
rs368657165
|
0.00003
|
|
NM_000527.5(LDLR):c.986G>A (p.Cys329Tyr)
|
rs761954844
|
0.00003
|
|
NM_000527.5(LDLR):c.1049G>A (p.Arg350Gln)
|
rs875989914
|
0.00002
|
|
NM_000527.5(LDLR):c.1066G>A (p.Asp356Asn)
|
rs767767730
|
0.00002
|
|
NM_000527.5(LDLR):c.1097A>G (p.Gln366Arg)
|
rs746982741
|
0.00002
|
|
NM_000527.5(LDLR):c.1166C>T (p.Thr389Met)
|
rs149227308
|
0.00002
|
|
NM_000527.5(LDLR):c.1335C>A (p.Asp445Glu)
|
rs749780672
|
0.00002
|
|
NM_000527.5(LDLR):c.1588T>G (p.Phe530Val)
|
rs875989924
|
0.00002
|
|
NM_000527.5(LDLR):c.1720C>T (p.Arg574Cys)
|
rs185098634
|
0.00002
|
|
NM_000527.5(LDLR):c.1733T>C (p.Val578Ala)
|
rs72658864
|
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.409G>A (p.Gly137Ser)
|
rs730882082
|
0.00002
|
|
NM_000527.4(LDLR):c.-120C>T
|
rs875989886
|
0.00001
|
|
NM_000527.5(LDLR):c.1020C>G (p.Cys340Trp)
|
rs777524402
|
0.00001
|
|
NM_000527.5(LDLR):c.1055G>A (p.Cys352Tyr)
|
rs193922566
|
0.00001
|
|
NM_000527.5(LDLR):c.1060+2T>G
|
rs774069731
|
0.00001
|
|
NM_000527.5(LDLR):c.1061-1G>C
|
rs879254774
|
0.00001
|
|
NM_000527.5(LDLR):c.1133A>C (p.Gln378Pro)
|
rs730882098
|
0.00001
|
|
NM_000527.5(LDLR):c.1186+5G>C
|
rs879254821
|
0.00001
|
|
NM_000527.5(LDLR):c.1187G>A (p.Gly396Asp)
|
rs766474188
|
0.00001
|
|
NM_000527.5(LDLR):c.1195G>A (p.Ala399Thr)
|
rs730882099
|
0.00001
|
|
NM_000527.5(LDLR):c.1217G>A (p.Arg406Gln)
|
rs552422789
|
0.00001
|
|
NM_000527.5(LDLR):c.1222G>A (p.Glu408Lys)
|
rs137943601
|
0.00001
|
|
NM_000527.5(LDLR):c.1238C>T (p.Thr413Met)
|
rs368562025
|
0.00001
|
|
NM_000527.5(LDLR):c.1241T>G (p.Leu414Arg)
|
rs748554592
|
0.00001
|
|
NM_000527.5(LDLR):c.1301C>T (p.Thr434Met)
|
rs745343524
|
0.00001
|
|
NM_000527.5(LDLR):c.1307T>C (p.Val436Ala)
|
rs779732323
|
0.00001
|
|
NM_000527.5(LDLR):c.1329G>C (p.Trp443Cys)
|
rs879254867
|
0.00001
|
|
NM_000527.5(LDLR):c.1367T>C (p.Leu456Pro)
|
rs200143634
|
0.00001
|
|
NM_000527.5(LDLR):c.1393T>A (p.Tyr465Asn)
|
rs730882101
|
0.00001
|
|
NM_000527.5(LDLR):c.1414G>T (p.Asp472Tyr)
|
rs730882102
|
0.00001
|
|
NM_000527.5(LDLR):c.1435C>G (p.Leu479Val)
|
rs1254928151
|
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.1608G>C (p.Trp536Cys)
|
rs2077458389
|
0.00001
|
|
NM_000527.5(LDLR):c.1634G>A (p.Gly545Glu)
|
rs759876319
|
0.00001
|
|
NM_000527.5(LDLR):c.1658A>G (p.Tyr553Cys)
|
rs879254974
|
0.00001
|
|
NM_000527.5(LDLR):c.1691A>G (p.Asn564Ser)
|
rs758194385
|
0.00001
|
|
NM_000527.5(LDLR):c.1730G>C (p.Trp577Ser)
|
rs138947766
|
0.00001
|
|
NM_000527.5(LDLR):c.1773_1775del (p.Asn591_Gly592delinsLys)
|
rs1221971156
|
0.00001
|
|
NM_000527.5(LDLR):c.1784G>A (p.Arg595Gln)
|
rs201102492
|
0.00001
|
|
NM_000527.5(LDLR):c.1817C>A (p.Ala606Asp)
|
rs1410295777
|
0.00001
|
|
NM_000527.5(LDLR):c.1822C>T (p.Pro608Ser)
|
rs879255034
|
0.00001
|
|
NM_000527.5(LDLR):c.1845G>A (p.Glu615=)
|
rs879255047
|
0.00001
|
|
NM_000527.5(LDLR):c.1846-1G>A
|
rs879255051
|
0.00001
|
|
NM_000527.5(LDLR):c.1898G>A (p.Arg633His)
|
rs754536745
|
0.00001
|
|
NM_000527.5(LDLR):c.190+4A>T
|
rs769446356
|
0.00001
|
|
NM_000527.5(LDLR):c.1943C>T (p.Ser648Phe)
|
rs1555807266
|
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.1976C>A (p.Thr659Asn)
|
rs879255094
|
0.00001
|
|
NM_000527.5(LDLR):c.2029T>C (p.Cys677Arg)
|
rs775092314
|
0.00001
|
|
NM_000527.5(LDLR):c.2061dup (p.Asn688fs)
|
rs137853965
|
0.00001
|
|
NM_000527.5(LDLR):c.2113G>C (p.Ala705Pro)
|
rs193922570
|
0.00001
|
|
NM_000527.5(LDLR):c.211G>A (p.Gly71Arg)
|
rs766903209
|
0.00001
|
|
NM_000527.5(LDLR):c.2138del (p.Thr713fs)
|
rs1257344396
|
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.2230C>T (p.Arg744Ter)
|
rs200793488
|
0.00001
|
|
NM_000527.5(LDLR):c.223T>A (p.Cys75Ser)
|
rs879254439
|
0.00001
|
|
NM_000527.5(LDLR):c.2312-3C>T
|
rs875989942
|
0.00001
|
|
NM_000527.5(LDLR):c.2530G>A (p.Gly844Ser)
|
rs1555809614
|
0.00001
|
|
NM_000527.5(LDLR):c.259T>G (p.Trp87Gly)
|
rs121908025
|
0.00001
|
|
NM_000527.5(LDLR):c.299A>T (p.Asp100Val)
|
rs879254460
|
0.00001
|
|
NM_000527.5(LDLR):c.301G>A (p.Glu101Lys)
|
rs144172724
|
0.00001
|
|
NM_000527.5(LDLR):c.313+2T>C
|
rs793888517
|
0.00001
|
|
NM_000527.5(LDLR):c.314-2A>C
|
rs879254470
|
0.00001
|
|
NM_000527.5(LDLR):c.325T>C (p.Cys109Arg)
|
rs140807148
|
0.00001
|
|
NM_000527.5(LDLR):c.337G>A (p.Glu113Lys)
|
rs769383881
|
0.00001
|
|
NM_000527.5(LDLR):c.352G>T (p.Asp118Tyr)
|
rs730882080
|
0.00001
|
|
NM_000527.5(LDLR):c.392A>G (p.Asp131Gly)
|
rs730882081
|
0.00001
|
|
NM_000527.5(LDLR):c.398A>C (p.Asp133Ala)
|
rs1317204420
|
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.451G>C (p.Ala151Pro)
|
rs763233960
|
0.00001
|
|
NM_000527.5(LDLR):c.502G>A (p.Asp168Asn)
|
rs200727689
|
0.00001
|
|
NM_000527.5(LDLR):c.508G>A (p.Asp170Asn)
|
rs139089530
|
0.00001
|
|
NM_000527.5(LDLR):c.523G>A (p.Asp175Asn)
|
rs121908033
|
0.00001
|
|
NM_000527.5(LDLR):c.544C>T (p.Gln182Ter)
|
rs879254570
|
0.00001
|
|
NM_000527.5(LDLR):c.581del (p.Ser194fs)
|
rs2077276693
|
0.00001
|
|
NM_000527.5(LDLR):c.631C>T (p.His211Tyr)
|
rs771917370
|
0.00001
|
|
NM_000527.5(LDLR):c.632A>T (p.His211Leu)
|
rs879254603
|
0.00001
|
|
NM_000527.5(LDLR):c.644G>A (p.Arg215His)
|
rs753319170
|
0.00001
|
|
NM_000527.5(LDLR):c.664T>C (p.Cys222Arg)
|
rs577934998
|
0.00001
|
|
NM_000527.5(LDLR):c.674_681dup (p.Glu228fs)
|
rs1555803423
|
0.00001
|
|
NM_000527.5(LDLR):c.709C>T (p.Arg237Cys)
|
rs879254657
|
0.00001
|
|
NM_000527.5(LDLR):c.772G>T (p.Glu258Ter)
|
rs879254672
|
0.00001
|
|
NM_000527.5(LDLR):c.782G>T (p.Cys261Phe)
|
rs121908040
|
0.00001
|
|
NM_000527.5(LDLR):c.788A>G (p.Asp263Gly)
|
rs141681167
|
0.00001
|
|
NM_000527.5(LDLR):c.796G>A (p.Asp266Asn)
|
rs875989907
|
0.00001
|
|
NM_000527.5(LDLR):c.808T>C (p.Cys270Arg)
|
rs879254682
|
0.00001
|
|
NM_000527.5(LDLR):c.820del (p.Thr274fs)
|
rs751122998
|
0.00001
|
|
NM_000527.5(LDLR):c.846C>A (p.Phe282Leu)
|
rs730882090
|
0.00001
|
|
NM_000527.5(LDLR):c.859G>A (p.Gly287Ser)
|
rs375495026
|
0.00001
|
|
NM_000527.5(LDLR):c.889A>C (p.Asn297His)
|
rs879254709
|
0.00001
|
|
NM_000527.5(LDLR):c.898A>G (p.Arg300Gly)
|
rs767618089
|
0.00001
|
|
NM_000527.5(LDLR):c.91G>A (p.Glu31Lys)
|
rs776421777
|
0.00001
|
|
NM_000527.5(LDLR):c.938G>A (p.Cys313Tyr)
|
rs875989911
|
0.00001
|
|
NM_000527.5(LDLR):c.949G>A (p.Glu317Lys)
|
rs746834464
|
0.00001
|
|
FH Aarhus
|
|
|
|
FH Bologna 2
|
|
|
|
FH Cape Town 2
|
|
|
|
FH Leiden 2
|
|
|
|
FH London 1
|
|
|
|
FH London 2
|
|
|
|
FH Paris 1
|
rs1555803632
|
|
|
FH Reykjavik
|
|
|
|
FH Tonami 1
|
|
|
|
FH Tsukuba 2
|
|
|
|
FH Vancouver 2
|
|
|
|
FH Vancouver 3
|
|
|
|
FH Vancouver 6
|
|
|
|
GRCh37/hg19 19p13.2(chr19:11210898-11222316)x3
|
|
|
|
GRCh37/hg19 19p13.2(chr19:11210899-11222315)x3
|
|
|
|
GRCh37/hg19 19p13.2(chr19:11233850-11242283)x1
|
|
|
|
GRCh37/hg19 19p13.2(chr19:11240189-11241992)x1
|
|
|
|
GRCh38/hg38 19p13.2(chr19:11089362-11089616)x1
|
|
|
|
GRCh38/hg38 19p13.2(chr19:11100222-11102787)x1
|
|
|
|
GRCh38/hg38 19p13.2(chr19:11100222-11107515)x1
|
|
|
|
GRCh38/hg38 19p13.2(chr19:11102663-11107515)x1
|
|
|
|
GRCh38/hg38 19p13.2(chr19:11106564-11107515)x1
|
|
|
|
GRCh38/hg38 19p13.2(chr19:11116093-11116999)x1
|
|
|
|
GRCh38/hg38 19p13.2(chr19:11120091-11120523)x1
|
|
|
|
GRCh38/hg38 19p13.2(chr19:11120091-11123345)x1
|
|
|
|
GRCh38/hg38 19p13.2(chr19:11128007-11133830)x1
|
|
|
|
GRCh38/hg38 19p13.2(chr19:11129512-11133830)x1
|
|
|
|
LDLR, EX17-18DEL
|
|
|
|
NC_000019.10:g.(?_11089282)_(11100355_?)del
|
|
|
|
NC_000019.10:g.(?_11089282)_(11131359_?)del
|
|
|
|
NC_000019.10:g.(?_11100203)_(11102806_?)del
|
|
|
|
NC_000019.10:g.(?_11100203)_(11107534_?)del
|
|
|
|
NC_000019.10:g.(?_11100213)_(11102796_?)del
|
|
|
|
NC_000019.10:g.(?_11100213)_(11107528_?)del
|
|
|
|
NC_000019.10:g.(?_11102644)_(11107534_?)del
|
|
|
|
NC_000019.10:g.(?_11102654)_(11106697_?)del
|
|
|
|
NC_000019.10:g.(?_11102654)_(11107528_?)del
|
|
|
|
NC_000019.10:g.(?_11105200)_(11107534_?)del
|
|
|
|
NC_000019.10:g.(?_11105210)_(11107528_?)del
|
|
|
|
NC_000019.10:g.(?_11110613)_(11111650_?)del
|
|
|
|
NC_000019.10:g.(?_11110613)_(11117013_?)del
|
|
|
|
NC_000019.10:g.(?_11110613)_(11117013_?)dup
|
|
|
|
NC_000019.10:g.(?_11110652)_(11110771_?)del
|
|
|
|
NC_000019.10:g.(?_11113268)_(11117013_?)dup
|
|
|
|
NC_000019.10:g.(?_11116074)_(11117018_?)del
|
|
|
|
NC_000019.10:g.(?_11116074)_(11131359_?)del
|
|
|
|
NC_000019.10:g.(?_11116084)_(11116222_?)del
|
|
|
|
NC_000019.10:g.(?_11116084)_(11117013_?)del
|
|
|
|
NC_000019.10:g.(?_11116084)_(11120608_?)del
|
|
|
|
NC_000019.10:g.(?_11116849)_(11120608_?)del
|
|
|
|
NC_000019.10:g.(?_11120072)_(11120608_?)del
|
|
|
|
NC_000019.10:g.(?_11120082)_(11120608_?)del
|
|
|
|
NC_000019.10:g.(?_11120086)_(11129676_?)dup
|
|
|
|
NC_000019.10:g.(?_11123154)_(11131359_?)del
|
|
|
|
NC_000019.10:g.(?_11127988)_(11128105_?)del
|
|
|
|
NC_000019.10:g.(?_11127998)_(11128095_?)del
|
|
|
|
NC_000019.10:g.(?_11127998)_(11131359_?)del
|
|
|
|
NC_000019.10:g.(?_11129503)_(11131359_?)del
|
|
|
|
NC_000019.10:g.(?_11129513)_(11133830_?)del
|
|
|
|
NC_000019.10:g.11087732_11090710del
|
|
|
|
NC_000019.9:g.(11213519_11215396)_(11244426_11256864)del
|
|
|
|
NC_000019.9:g.(?_11199955)_(11218210_?)dup
|
|
|
|
NC_000019.9:g.(?_11200038)_(11211022_11213339)del
|
|
|
|
NC_000019.9:g.(?_11210879)_(11216296_?)del
|
|
|
|
NC_000019.9:g.(?_11210879)_(11222335_?)dup
|
|
|
|
NC_000019.9:g.(?_11213320)_(11216296_?)del
|
|
|
|
NC_000019.9:g.(?_11213320)_(11217383_?)del
|
|
|
|
NC_000019.9:g.(?_11213320)_(11218210_?)dup
|
|
|
|
NC_000019.9:g.(?_11213330)_(11222326_?)del
|
|
|
|
NC_000019.9:g.(?_11215876)_(11241992_?)del
|
|
|
|
NC_000019.9:g.(?_11217221)_(11217383_?)del
|
|
|
|
NC_000019.9:g.(?_11217231)_(11218204_?)del
|
|
|
|
NC_000019.9:g.(?_11217231)_(11224448_?)del
|
|
|
|
NC_000019.9:g.(?_11218048)_(11218210_?)del
|
|
|
|
NC_000019.9:g.(?_11221289)_(11221471_?)del
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|
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NC_000019.9:g.(?_11221308)_(11234040_?)del
|
|
|
|
NC_000019.9:g.(?_11222190)_(11227674_?)del
|
|
|
|
NC_000019.9:g.(?_11223934)_(11224458_?)dup
|
|
|
|
NC_000019.9:g.(?_11223934)_(11231218_?)del
|
|
|
|
NC_000019.9:g.(?_11223934)_(11234040_?)del
|
|
|
|
NC_000019.9:g.(?_11223934)_(11241992_?)del
|
|
|
|
NC_000019.9:g.(?_11223944)_(11227689_?)del
|
|
|
|
NC_000019.9:g.(?_11223948)_(11241997_?)del
|
|
|
|
NC_000019.9:g.(?_11227515)_(11241992_?)del
|
|
|
|
NC_000019.9:g.(?_11230748)_(11231218_?)del
|
|
|
|
NC_000019.9:g.(?_11230748)_(11231218_?)dup
|
|
|
|
NC_000019.9:g.(?_11230748)_(11234040_?)del
|
|
|
|
NC_000019.9:g.(?_11230748)_(11234040_?)dup
|
|
|
|
NC_000019.9:g.(?_11230748)_(11240366_?)dup
|
|
|
|
NC_000019.9:g.(?_11230758)_(11240356_?)dup
|
|
|
|
NC_000019.9:g.(?_11233830)_(11238781_?)del
|
|
|
|
NC_000019.9:g.(?_11238664)_(11241992_?)del
|
|
|
|
NC_000019.9:g.(?_11240169)_(11240366_?)del
|
|
|
|
NC_000019.9:g.(?_11240169)_(11241992_?)del
|
|
|
|
NC_000019.9:g.(?_11240179)_(11241992_?)del
|
|
|
|
NC_000019.9:g.(?_11240188)_(11240347_?)del
|
|
|
|
NC_000019.9:g.(?_11241937)_(11241992_?)del
|
|
|
|
NM_000527.4(LDLR):c.(1586+1_1587-1)_(1845+1_1846-1)del
|
|
|
|
NM_000527.4(LDLR):c.(1586+1_1587-1)_(2547+1_2548-1)del
|
|
|
|
NM_000527.4(LDLR):c.(1845+1_1846-1)_(*_?)del
|
|
|
|
NM_000527.4(LDLR):c.(1845+1_1846-1)_(2140+1_2141-1)del
|
|
|
|
NM_000527.4(LDLR):c.(2311+1_2312-1)_(2547+1_2548-1)del
|
|
|
|
NM_000527.4(LDLR):c.(2389+1_2390-1)_(*_?)del
|
|
|
|
NM_000527.4(LDLR):c.(313+1_314-1)_(1586+1_1587-1)dup
|
|
|
|
NM_000527.4(LDLR):c.(313+1_314-1)_(940+1_941-1)del
|
|
|
|
NM_000527.4(LDLR):c.(67+1_68-1)_(1586+1_1587-1)del
|
|
|
|
NM_000527.4(LDLR):c.(67+1_68-1)_(2311+1_2312-1)dup
|
|
|
|
NM_000527.4(LDLR):c.(940+1_941-1)_(1186+1_1187-1)del
|
|
|
|
NM_000527.4(LDLR):c.(940+1_941-1)_(1586+1_1587-1)del
|
|
|
|
NM_000527.4(LDLR):c.(940+1_941-1)_(1845+1_1846-1)del
|
|
|
|
NM_000527.4(LDLR):c.(?_-1)_(1845+1_1846-1)dup
|
|
|
|
NM_000527.4(LDLR):c.(?_-1)_(67+1_68-1)del
|
|
|
|
NM_000527.4(LDLR):c.-135C>G
|
|
|
|
NM_000527.4(LDLR):c.-136C>T
|
rs879254374
|
|
|
NM_000527.4(LDLR):c.-138del
|
rs387906307
|
|
|
NM_000527.4(LDLR):c.-142C>G
|
rs879254370
|
|
|
NM_000527.4(LDLR):c.-150A>G
|
rs1555800632
|
|
|
NM_000527.4(LDLR):c.-151C>G
|
rs1555800631
|
|
|
NM_000527.4(LDLR):c.-152C>T
|
|
|
|
NM_000527.4(LDLR):c.-172G>A
|
rs1555800629
|
|
|
NM_000527.4(LDLR):c.-187_-185del
|
rs1270618112
|
|
|
NM_000527.4(LDLR):c.-187_67+?del
|
|
|
|
NM_000527.4(LDLR):c.-193_-187delinsTG
|
rs1555800620
|
|
|
NM_000527.4(LDLR):c.-229_-90del
|
rs1555800611
|
|
|
NM_000527.4(LDLR):c.-98C>T
|
rs1555800648
|
|
|
NM_000527.4(LDLR):c.1061-?_1845+?del
|
|
|
|
NM_000527.4(LDLR):c.1187-?_1586+?del
|
|
|
|
NM_000527.4(LDLR):c.1587-?_1845+?del
|
|
|
|
NM_000527.4(LDLR):c.1587-?_2140+?del
|
|
|
|
NM_000527.4(LDLR):c.1690A>C (p.Asn564His)
|
|
|
|
NM_000527.4(LDLR):c.1706_1715delATCTCCTCAG
|
|
|
|
NM_000527.4(LDLR):c.1846-?_2140+?dup
|
|
|
|
NM_000527.4(LDLR):c.1846-?_2311+?del
|
|
|
|
NM_000527.4(LDLR):c.190+2_190+3dup
|
|
|
|
NM_000527.4(LDLR):c.191-?_1186+?dup
|
|
|
|
NM_000527.4(LDLR):c.191-?_940+?del
|
|
|
|
NM_000527.4(LDLR):c.2141-?_(2583_?)del
|
|
|
|
NM_000527.4(LDLR):c.2141-?_2311+?del
|
|
|
|
NM_000527.4(LDLR):c.2141-?_2389+?del
|
|
|
|
NM_000527.4(LDLR):c.2141_2311del171 (p.Glu714_Gln770del)
|
rs1555808008
|
|
|
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-?_1060+?del
|
|
|
|
NM_000527.4(LDLR):c.314-?_694+?del
|
|
|
|
NM_000527.4(LDLR):c.314-?_940+?del
|
|
|
|
NM_000527.4(LDLR):c.664_681dup18 (p.Asp227_Glu228insCysLysAspLysSerAsp)
|
rs387906306
|
|
|
NM_000527.4(LDLR):c.68-?_1586+?del
|
|
|
|
NM_000527.4(LDLR):c.680_682delACGins14 (p.?)
|
|
|
|
NM_000527.4(LDLR):c.680_692delACGAGGAAAACTGins24 (p.?)
|
|
|
|
NM_000527.4(LDLR):c.694+2T>C
|
rs200238879
|
|
|
NM_000527.4(LDLR):c.695-?_817+?del
|
|
|
|
NM_000527.4(LDLR):c.818-?_1186+?del
|
|
|
|
NM_000527.4(LDLR):c.941-?_1060+?del
|
|
|
|
NM_000527.4(LDLR):c.941-?_1186+?dup
|
|
|
|
NM_000527.4(LDLR):c.941-?_1586+?del
|
|
|
|
NM_000527.4(LDLR):c.[649_654dupGATGGT;657_661delCCCCG]
|
|
|
|
NM_000527.4:c.(1705+1_1706-1)_(1845+1_1846-1)del
|
|
|
|
NM_000527.4:c.(1845+1_1846-1)_(2311+1_2312-1)del
|
|
|
|
NM_000527.4:c.(2140+1_2141-1)_(2389+1_2390-1)del
|
|
|
|
NM_000527.4:c.(67+1_68-1)_(1845+1_1846-1)del
|
|
|
|
NM_000527.4:c.191_694del
|
|
|
|
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.1003G>T (p.Gly335Cys)
|
rs544453230
|
|
|
NM_000527.5(LDLR):c.1004G>T (p.Gly335Val)
|
rs869320650
|
|
|
NM_000527.5(LDLR):c.1007A>G (p.Tyr336Cys)
|
rs879254750
|
|
|
NM_000527.5(LDLR):c.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.1010A>G (p.Glu337Gly)
|
rs2077362818
|
|
|
NM_000527.5(LDLR):c.1010_1013dup (p.Cys338Ter)
|
rs2077362782
|
|
|
NM_000527.5(LDLR):c.1012T>A (p.Cys338Ser)
|
rs879254753
|
|
|
NM_000527.5(LDLR):c.1012T>G (p.Cys338Gly)
|
rs879254753
|
|
|
NM_000527.5(LDLR):c.1013G>A (p.Cys338Tyr)
|
|
|
|
NM_000527.5(LDLR):c.1013G>C (p.Cys338Ser)
|
rs879254754
|
|
|
NM_000527.5(LDLR):c.1014C>A (p.Cys338Ter)
|
rs879254755
|
|
|
NM_000527.5(LDLR):c.1014C>G (p.Cys338Trp)
|
rs879254755
|
|
|
NM_000527.5(LDLR):c.1016T>C (p.Leu339Pro)
|
|
|
|
NM_000527.5(LDLR):c.1017dup (p.Cys340fs)
|
rs879254757
|
|
|
NM_000527.5(LDLR):c.1019G>A (p.Cys340Tyr)
|
rs755757866
|
|
|
NM_000527.5(LDLR):c.1019_1020delinsTG (p.Cys340Leu)
|
rs879254758
|
|
|
NM_000527.5(LDLR):c.1020C>A (p.Cys340Ter)
|
|
|
|
NM_000527.5(LDLR):c.1023del (p.Asp342fs)
|
rs1600720921
|
|
|
NM_000527.5(LDLR):c.1024G>A (p.Asp342Asn)
|
|
|
|
NM_000527.5(LDLR):c.1027G>A (p.Gly343Ser)
|
|
|
|
NM_000527.5(LDLR):c.1027G>T (p.Gly343Cys)
|
rs730882096
|
|
|
NM_000527.5(LDLR):c.1028G>A (p.Gly343Asp)
|
rs879254760
|
|
|
NM_000527.5(LDLR):c.1028G>T (p.Gly343Val)
|
rs879254760
|
|
|
NM_000527.5(LDLR):c.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.1037dup (p.Val347fs)
|
rs2147239145
|
|
|
NM_000527.5(LDLR):c.1039_1040insA (p.Val347fs)
|
|
|
|
NM_000527.5(LDLR):c.103C>T (p.Gln35Ter)
|
rs879254408
|
|
|
NM_000527.5(LDLR):c.103del (p.Gln35fs)
|
rs2147210233
|
|
|
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.1046dup (p.Arg350fs)
|
rs1555804545
|
|
|
NM_000527.5(LDLR):c.1048C>T (p.Arg350Ter)
|
|
|
|
NM_000527.5(LDLR):c.1049G>C (p.Arg350Pro)
|
rs875989914
|
|
|
NM_000527.5(LDLR):c.1054T>C (p.Cys352Arg)
|
rs879254769
|
|
|
NM_000527.5(LDLR):c.1054_1064del (p.Cys352fs)
|
|
|
|
NM_000527.5(LDLR):c.1055G>T (p.Cys352Phe)
|
rs193922566
|
|
|
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.1056C>G (p.Cys352Trp)
|
rs13306515
|
|
|
NM_000527.5(LDLR):c.1056_1060+3del
|
rs879254770
|
|
|
NM_000527.5(LDLR):c.1057G>A (p.Glu353Lys)
|
|
|
|
NM_000527.5(LDLR):c.1057G>T (p.Glu353Ter)
|
rs370471092
|
|
|
NM_000527.5(LDLR):c.1060+10G>A
|
|
|
|
NM_000527.5(LDLR):c.1060+1G>A
|
rs879254771
|
|
|
NM_000527.5(LDLR):c.1061-1G>A
|
rs879254774
|
|
|
NM_000527.5(LDLR):c.1061-1G>T
|
rs879254774
|
|
|
NM_000527.5(LDLR):c.1061-2A>G
|
rs879254773
|
|
|
NM_000527.5(LDLR):c.1061-2A>T
|
|
|
|
NM_000527.5(LDLR):c.1061A>G (p.Asp354Gly)
|
rs755449669
|
|
|
NM_000527.5(LDLR):c.1062dup (p.Ile355fs)
|
rs879254775
|
|
|
NM_000527.5(LDLR):c.1064dup (p.Asp356fs)
|
rs1555804700
|
|
|
NM_000527.5(LDLR):c.1066G>T (p.Asp356Tyr)
|
rs767767730
|
|
|
NM_000527.5(LDLR):c.1067A>T (p.Asp356Val)
|
rs879254777
|
|
|
NM_000527.5(LDLR):c.1067del (p.Asp356fs)
|
rs879254778
|
|
|
NM_000527.5(LDLR):c.1069G>A (p.Glu357Lys)
|
rs879254781
|
|
|
NM_000527.5(LDLR):c.106G>T (p.Asp36Tyr)
|
rs2147210262
|
|
|
NM_000527.5(LDLR):c.1070A>G (p.Glu357Gly)
|
rs753248521
|
|
|
NM_000527.5(LDLR):c.1070_1071dup (p.Cys358fs)
|
rs2147241240
|
|
|
NM_000527.5(LDLR):c.1070_1073dup (p.Cys358Ter)
|
rs879254782
|
|
|
NM_000527.5(LDLR):c.1070del (p.Glu357fs)
|
rs1555804717
|
|
|
NM_000527.5(LDLR):c.1072T>C (p.Cys358Arg)
|
rs879254783
|
|
|
NM_000527.5(LDLR):c.1073G>A (p.Cys358Tyr)
|
rs875989915
|
|
|
NM_000527.5(LDLR):c.1075C>T (p.Gln359Ter)
|
rs879254784
|
|
|
NM_000527.5(LDLR):c.1081C>T (p.Pro361Ser)
|
rs1131692203
|
|
|
NM_000527.5(LDLR):c.1085del (p.Asp362fs)
|
rs879254786
|
|
|
NM_000527.5(LDLR):c.108_109insT (p.Gly37fs)
|
rs2147210293
|
|
|
NM_000527.5(LDLR):c.108del (p.Asp36fs)
|
rs879254409
|
|
|
NM_000527.5(LDLR):c.1090T>C (p.Cys364Arg)
|
|
|
|
NM_000527.5(LDLR):c.1091G>A (p.Cys364Tyr)
|
rs879254788
|
|
|
NM_000527.5(LDLR):c.1092C>A (p.Cys364Ter)
|
rs1555804729
|
|
|
NM_000527.5(LDLR):c.1096C>T (p.Gln366Ter)
|
rs879254789
|
|
|
NM_000527.5(LDLR):c.1098_1109del (p.Gln366_Asn370delinsHis)
|
rs878854024
|
|
|
NM_000527.5(LDLR):c.1099_1104delinsGT (p.Leu367fs)
|
|
|
|
NM_000527.5(LDLR):c.1102T>A (p.Cys368Ser)
|
|
|
|
NM_000527.5(LDLR):c.1102T>C (p.Cys368Arg)
|
rs879254791
|
|
|
NM_000527.5(LDLR):c.1102T>G (p.Cys368Gly)
|
rs879254791
|
|
|
NM_000527.5(LDLR):c.1103G>A (p.Cys368Tyr)
|
|
|
|
NM_000527.5(LDLR):c.1103G>C (p.Cys368Ser)
|
rs768430352
|
|
|
NM_000527.5(LDLR):c.1104C>A (p.Cys368Ter)
|
rs113669610
|
|
|
NM_000527.5(LDLR):c.1109A>C (p.Asn370Thr)
|
rs879254792
|
|
|
NM_000527.5(LDLR):c.1113_1114insTGGG (p.Glu372fs)
|
rs879254794
|
|
|
NM_000527.5(LDLR):c.1114G>T (p.Glu372Ter)
|
rs1131692204
|
|
|
NM_000527.5(LDLR):c.1118G>A (p.Gly373Asp)
|
|
|
|
NM_000527.5(LDLR):c.1118G>T (p.Gly373Val)
|
rs879254797
|
|
|
NM_000527.5(LDLR):c.1118_1121dup (p.Tyr375fs)
|
rs875989916
|
|
|
NM_000527.5(LDLR):c.1118dup (p.Gly374fs)
|
rs2147241499
|
|
|
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.1124A>G (p.Tyr375Cys)
|
rs879254800
|
|
|
NM_000527.5(LDLR):c.1129T>C (p.Cys377Arg)
|
|
|
|
NM_000527.5(LDLR):c.1130G>A (p.Cys377Tyr)
|
rs879254801
|
|
|
NM_000527.5(LDLR):c.1130G>C (p.Cys377Ser)
|
rs879254801
|
|
|
NM_000527.5(LDLR):c.1130G>T (p.Cys377Phe)
|
rs879254801
|
|
|
NM_000527.5(LDLR):c.1130del (p.Cys377fs)
|
rs1131692205
|
|
|
NM_000527.5(LDLR):c.1132C>T (p.Gln378Ter)
|
rs879254802
|
|
|
NM_000527.5(LDLR):c.1135T>C (p.Cys379Arg)
|
|
|
|
NM_000527.5(LDLR):c.1135_1186+14del
|
rs1555804793
|
|
|
NM_000527.5(LDLR):c.1136G>A (p.Cys379Tyr)
|
rs879254804
|
|
|
NM_000527.5(LDLR):c.1137T>A (p.Cys379Ter)
|
rs2147241680
|
|
|
NM_000527.5(LDLR):c.1145G>T (p.Gly382Val)
|
rs752951310
|
|
|
NM_000527.5(LDLR):c.114dup (p.Cys39fs)
|
rs879254410
|
|
|
NM_000527.5(LDLR):c.1150C>T (p.Gln384Ter)
|
rs879254805
|
|
|
NM_000527.5(LDLR):c.1151A>C (p.Gln384Pro)
|
rs879254807
|
|
|
NM_000527.5(LDLR):c.1154T>C (p.Leu385Pro)
|
rs879254809
|
|
|
NM_000527.5(LDLR):c.1156G>T (p.Asp386Tyr)
|
rs1402951356
|
|
|
NM_000527.5(LDLR):c.1158_1162dup (p.His388fs)
|
|
|
|
NM_000527.5(LDLR):c.115T>C (p.Cys39Arg)
|
rs1555802275
|
|
|
NM_000527.5(LDLR):c.1162_1173del (p.His388_Ala391del)
|
rs2147241831
|
|
|
NM_000527.5(LDLR):c.1162del (p.His388fs)
|
rs875989917
|
|
|
NM_000527.5(LDLR):c.1162dup (p.His388fs)
|
|
|
|
NM_000527.5(LDLR):c.1164del (p.His388fs)
|
|
|
|
NM_000527.5(LDLR):c.1167del (p.Lys390fs)
|
rs2147241875
|
|
|
NM_000527.5(LDLR):c.1168A>T (p.Lys390Ter)
|
rs879254811
|
|
|
NM_000527.5(LDLR):c.1169del (p.Lys390fs)
|
|
|
|
NM_000527.5(LDLR):c.116G>T (p.Cys39Phe)
|
rs1131692189
|
|
|
NM_000527.5(LDLR):c.116_117delinsAA (p.Cys39Ter)
|
rs879254411
|
|
|
NM_000527.5(LDLR):c.116dup (p.Cys39fs)
|
rs2147210341
|
|
|
NM_000527.5(LDLR):c.1171del (p.Ala391fs)
|
rs2147241900
|
|
|
NM_000527.5(LDLR):c.1173del (p.Cys392fs)
|
rs879254812
|
|
|
NM_000527.5(LDLR):c.1174T>C (p.Cys392Arg)
|
rs879254814
|
|
|
NM_000527.5(LDLR):c.1174dup (p.Cys392fs)
|
rs879254813
|
|
|
NM_000527.5(LDLR):c.1175G>A (p.Cys392Tyr)
|
|
|
|
NM_000527.5(LDLR):c.1176C>A (p.Cys392Ter)
|
|
|
|
NM_000527.5(LDLR):c.1177_1181dup (p.Val395fs)
|
rs2147241957
|
|
|
NM_000527.5(LDLR):c.1178A>C (p.Lys393Thr)
|
rs2147241974
|
|
|
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.1184_1185del (p.Val395fs)
|
rs1060499922
|
|
|
NM_000527.5(LDLR):c.1186+1G>A
|
rs730880131
|
|
|
NM_000527.5(LDLR):c.1186+1G>T
|
rs730880131
|
|
|
NM_000527.5(LDLR):c.1186+1del
|
rs879254819
|
|
|
NM_000527.5(LDLR):c.1186+5G>A
|
rs879254821
|
|
|
NM_000527.5(LDLR):c.1186G>C (p.Gly396Arg)
|
rs879254820
|
|
|
NM_000527.5(LDLR):c.1187-10G>A
|
|
|
|
NM_000527.5(LDLR):c.1187-1G>A
|
rs879254824
|
|
|
NM_000527.5(LDLR):c.1187-1G>T
|
rs879254824
|
|
|
NM_000527.5(LDLR):c.1187-1_1187delinsTA
|
rs2147246807
|
|
|
NM_000527.5(LDLR):c.1187-2A>G
|
rs879254823
|
|
|
NM_000527.5(LDLR):c.1187del
|
|
|
|
NM_000527.5(LDLR):c.1189T>A (p.Ser397Thr)
|
rs879254825
|
|
|
NM_000527.5(LDLR):c.118del (p.Ile40fs)
|
rs879254413
|
|
|
NM_000527.5(LDLR):c.1195G>T (p.Ala399Ser)
|
rs730882099
|
|
|
NM_000527.5(LDLR):c.1196C>A (p.Ala399Asp)
|
rs875989918
|
|
|
NM_000527.5(LDLR):c.1199_1207del (p.Tyr400_Phe402del)
|
rs879254826
|
|
|
NM_000527.5(LDLR):c.11G>A (p.Trp4Ter)
|
rs201016593
|
|
|
NM_000527.5(LDLR):c.1200C>A (p.Tyr400Ter)
|
rs879254827
|
|
|
NM_000527.5(LDLR):c.1201C>G (p.Leu401Val)
|
|
|
|
NM_000527.5(LDLR):c.1202T>A (p.Leu401His)
|
rs121908038
|
|
|
NM_000527.5(LDLR):c.1204_1205del (p.Phe402fs)
|
rs1060499923
|
|
|
NM_000527.5(LDLR):c.1205dup (p.Phe403fs)
|
rs879254828
|
|
|
NM_000527.5(LDLR):c.1206_1207del (p.Phe403fs)
|
rs879254829
|
|
|
NM_000527.5(LDLR):c.1207T>C (p.Phe403Leu)
|
rs879254831
|
|
|
NM_000527.5(LDLR):c.1208del (p.Phe403fs)
|
rs879254832
|
|
|
NM_000527.5(LDLR):c.1209C>A (p.Phe403Leu)
|
rs777903106
|
|
|
NM_000527.5(LDLR):c.1209del (p.Phe403fs)
|
rs879254833
|
|
|
NM_000527.5(LDLR):c.1211C>T (p.Thr404Ile)
|
rs879254835
|
|
|
NM_000527.5(LDLR):c.1215C>A (p.Asn405Lys)
|
|
|
|
NM_000527.5(LDLR):c.1215C>G (p.Asn405Lys)
|
rs879254837
|
|
|
NM_000527.5(LDLR):c.1216C>A (p.Arg406=)
|
rs121908043
|
|
|
NM_000527.5(LDLR):c.1216C>T (p.Arg406Trp)
|
|
|
|
NM_000527.5(LDLR):c.1217G>C (p.Arg406Pro)
|
rs552422789
|
|
|
NM_000527.5(LDLR):c.1222G>T (p.Glu408Ter)
|
rs137943601
|
|
|
NM_000527.5(LDLR):c.1223A>T (p.Glu408Val)
|
rs879254838
|
|
|
NM_000527.5(LDLR):c.1230G>C (p.Arg410Ser)
|
rs879254839
|
|
|
NM_000527.5(LDLR):c.1233del (p.Lys411_Met412insTer)
|
rs879254841
|
|
|
NM_000527.5(LDLR):c.1234A>C (p.Met412Leu)
|
rs1225797407
|
|
|
NM_000527.5(LDLR):c.1235T>C (p.Met412Thr)
|
rs879254842
|
|
|
NM_000527.5(LDLR):c.1243G>C (p.Asp415His)
|
rs879254844
|
|
|
NM_000527.5(LDLR):c.1244A>G (p.Asp415Gly)
|
rs879254845
|
|
|
NM_000527.5(LDLR):c.1244_1245del (p.Asp415fs)
|
|
|
|
NM_000527.5(LDLR):c.1245_1249dup (p.Ser417fs)
|
rs879254846
|
|
|
NM_000527.5(LDLR):c.1246C>T (p.Arg416Trp)
|
|
|
|
NM_000527.5(LDLR):c.1247G>C (p.Arg416Pro)
|
rs773658037
|
|
|
NM_000527.5(LDLR):c.1247G>T (p.Arg416Leu)
|
rs773658037
|
|
|
NM_000527.5(LDLR):c.1252G>A (p.Glu418Lys)
|
|
|
|
NM_000527.5(LDLR):c.1252G>T (p.Glu418Ter)
|
rs869320651
|
|
|
NM_000527.5(LDLR):c.1255T>C (p.Tyr419His)
|
rs879254847
|
|
|
NM_000527.5(LDLR):c.1255T>G (p.Tyr419Asp)
|
rs879254847
|
|
|
NM_000527.5(LDLR):c.1255dup (p.Tyr419fs)
|
rs2077408827
|
|
|
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.1265T>C (p.Leu422Pro)
|
rs879254848
|
|
|
NM_000527.5(LDLR):c.1268T>C (p.Ile423Thr)
|
rs879254849
|
|
|
NM_000527.5(LDLR):c.126C>A (p.Tyr42Ter)
|
|
|
|
NM_000527.5(LDLR):c.126C>G (p.Tyr42Ter)
|
rs751317621
|
|
|
NM_000527.5(LDLR):c.1272del (p.Asn425fs)
|
rs1060500987
|
|
|
NM_000527.5(LDLR):c.1274A>T (p.Asn425Ile)
|
rs879254850
|
|
|
NM_000527.5(LDLR):c.1274del (p.Asn425fs)
|
|
|
|
NM_000527.5(LDLR):c.1277T>C (p.Leu426Pro)
|
rs879254851
|
|
|
NM_000527.5(LDLR):c.1284C>A (p.Asn428Lys)
|
|
|
|
NM_000527.5(LDLR):c.1284C>G (p.Asn428Lys)
|
rs368708058
|
|
|
NM_000527.5(LDLR):c.1284del (p.Asn428fs)
|
rs2077409930
|
|
|
NM_000527.5(LDLR):c.1285G>A (p.Val429Met)
|
|
|
|
NM_000527.5(LDLR):c.1285G>C (p.Val429Leu)
|
rs28942078
|
|
|
NM_000527.5(LDLR):c.1285G>T (p.Val429Leu)
|
rs28942078
|
|
|
NM_000527.5(LDLR):c.1291G>A (p.Ala431Thr)
|
|
|
|
NM_000527.5(LDLR):c.1291_1331del (p.Val430_Ala431insTer)
|
rs879254854
|
|
|
NM_000527.5(LDLR):c.1294C>G (p.Leu432Val)
|
rs730882100
|
|
|
NM_000527.5(LDLR):c.1295T>C (p.Leu432Pro)
|
rs879254855
|
|
|
NM_000527.5(LDLR):c.1297G>C (p.Asp433His)
|
rs121908036
|
|
|
NM_000527.5(LDLR):c.1297G>T (p.Asp433Tyr)
|
rs121908036
|
|
|
NM_000527.5(LDLR):c.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.1303del (p.Glu435fs)
|
rs879254857
|
|
|
NM_000527.5(LDLR):c.1306del (p.Val436fs)
|
rs879254858
|
|
|
NM_000527.5(LDLR):c.1309_1310insTCGCTCTGGACACGTAGGTGG (p.Ala437delinsValAlaLeuAspThrTer)
|
rs2077410686
|
|
|
NM_000527.5(LDLR):c.1309dup (p.Ala437fs)
|
rs879254859
|
|
|
NM_000527.5(LDLR):c.131G>A (p.Trp44Ter)
|
rs267607213
|
|
|
NM_000527.5(LDLR):c.1322T>A (p.Ile441Asn)
|
rs879254862
|
|
|
NM_000527.5(LDLR):c.1322T>C (p.Ile441Thr)
|
rs879254862
|
|
|
NM_000527.5(LDLR):c.1323C>G (p.Ile441Met)
|
rs5933
|
|
|
NM_000527.5(LDLR):c.1324T>C (p.Tyr442His)
|
rs879254863
|
|
|
NM_000527.5(LDLR):c.1325A>G (p.Tyr442Cys)
|
rs879254864
|
|
|
NM_000527.5(LDLR):c.1326C>G (p.Tyr442Ter)
|
rs879254865
|
|
|
NM_000527.5(LDLR):c.1327T>C (p.Trp443Arg)
|
rs773566855
|
|
|
NM_000527.5(LDLR):c.1328G>A (p.Trp443Ter)
|
rs879254866
|
|
|
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.1329G>T (p.Trp443Cys)
|
rs879254867
|
|
|
NM_000527.5(LDLR):c.132G>A (p.Trp44Ter)
|
rs1555802287
|
|
|
NM_000527.5(LDLR):c.132_133dup (p.Val45fs)
|
rs879254414
|
|
|
NM_000527.5(LDLR):c.1330T>C (p.Ser444Pro)
|
rs875989919
|
|
|
NM_000527.5(LDLR):c.1330del (p.Ser444fs)
|
rs1057519671
|
|
|
NM_000527.5(LDLR):c.1336del (p.Leu446fs)
|
rs879254868
|
|
|
NM_000527.5(LDLR):c.1338del (p.Ser447fs)
|
|
|
|
NM_000527.5(LDLR):c.1340C>G (p.Ser447Cys)
|
rs879254870
|
|
|
NM_000527.5(LDLR):c.1342C>A (p.Gln448Lys)
|
rs879254871
|
|
|
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.1356C>A (p.Cys452Ter)
|
rs137853961
|
|
|
NM_000527.5(LDLR):c.1357del (p.Ser453fs)
|
rs2077412367
|
|
|
NM_000527.5(LDLR):c.1358+1G>A
|
rs775924858
|
|
|
NM_000527.5(LDLR):c.1358+1G>C
|
rs775924858
|
|
|
NM_000527.5(LDLR):c.1358+2T>A
|
rs193922567
|
|
|
NM_000527.5(LDLR):c.1358+2T>C
|
rs193922567
|
|
|
NM_000527.5(LDLR):c.1358+5G>T
|
rs1060499924
|
|
|
NM_000527.5(LDLR):c.1361_1364del (p.Thr454fs)
|
|
|
|
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.136T>G (p.Cys46Gly)
|
rs879254415
|
|
|
NM_000527.5(LDLR):c.136_142del (p.Cys46fs)
|
|
|
|
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.1374_1382del (p.Arg458_Gly461delinsSer)
|
rs1600727285
|
|
|
NM_000527.5(LDLR):c.1377_1380del (p.His460fs)
|
rs879254885
|
|
|
NM_000527.5(LDLR):c.1379_1394delinsCAGCT (p.His460fs)
|
rs1555805337
|
|
|
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.137G>C (p.Cys46Ser)
|
rs121908041
|
|
|
NM_000527.5(LDLR):c.1382del (p.Gly461fs)
|
rs1600727337
|
|
|
NM_000527.5(LDLR):c.138C>A (p.Cys46Ter)
|
rs754676104
|
|
|
NM_000527.5(LDLR):c.1392del (p.Tyr465fs)
|
rs879254888
|
|
|
NM_000527.5(LDLR):c.1393del (p.Tyr465fs)
|
rs1555805348
|
|
|
NM_000527.5(LDLR):c.1394A>G (p.Tyr465Cys)
|
rs879254889
|
|
|
NM_000527.5(LDLR):c.139G>A (p.Asp47Asn)
|
|
|
|
NM_000527.5(LDLR):c.139G>C (p.Asp47His)
|
rs778284147
|
|
|
NM_000527.5(LDLR):c.139_144del (p.Asp47_Gly48del)
|
rs387906301
|
|
|
NM_000527.5(LDLR):c.1402_1407del (p.Val468_Ile469del)
|
|
|
|
NM_000527.5(LDLR):c.140_153del (p.Asp47fs)
|
rs1555802291
|
|
|
NM_000527.5(LDLR):c.1411del (p.Arg471fs)
|
rs2147248471
|
|
|
NM_000527.5(LDLR):c.1413_1414delinsGGACAT (p.Gln474fs)
|
rs1555805360
|
|
|
NM_000527.5(LDLR):c.1415_1418dup (p.Gln474fs)
|
rs879254892
|
|
|
NM_000527.5(LDLR):c.1418_1432del (p.Ile473_Gly478delinsArg)
|
|
|
|
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.1426C>T (p.Pro476Ser)
|
rs879254898
|
|
|
NM_000527.5(LDLR):c.1427C>T (p.Pro476Leu)
|
rs1131692208
|
|
|
NM_000527.5(LDLR):c.1428dup (p.Asp477fs)
|
rs876657697
|
|
|
NM_000527.5(LDLR):c.1429G>A (p.Asp477Asn)
|
rs780316072
|
|
|
NM_000527.5(LDLR):c.1432G>A (p.Gly478Arg)
|
|
|
|
NM_000527.5(LDLR):c.1433G>A (p.Gly478Glu)
|
rs1555805380
|
|
|
NM_000527.5(LDLR):c.1434del (p.Leu479fs)
|
rs879254899
|
|
|
NM_000527.5(LDLR):c.1436T>A (p.Leu479Gln)
|
rs879254900
|
|
|
NM_000527.5(LDLR):c.1436T>C (p.Leu479Pro)
|
rs879254900
|
|
|
NM_000527.5(LDLR):c.1438G>A (p.Ala480Thr)
|
rs879254901
|
|
|
NM_000527.5(LDLR):c.1439C>T (p.Ala480Val)
|
rs1064794259
|
|
|
NM_000527.5(LDLR):c.1439_1449del (p.Ala480fs)
|
rs879254902
|
|
|
NM_000527.5(LDLR):c.1447T>C (p.Trp483Arg)
|
rs879254905
|
|
|
NM_000527.5(LDLR):c.1447del (p.Trp483fs)
|
rs2077417709
|
|
|
NM_000527.5(LDLR):c.1448G>A (p.Trp483Ter)
|
rs875989921
|
|
|
NM_000527.5(LDLR):c.1448G>T (p.Trp483Leu)
|
rs875989921
|
|
|
NM_000527.5(LDLR):c.1449G>A (p.Trp483Ter)
|
rs879254907
|
|
|
NM_000527.5(LDLR):c.1449G>C (p.Trp483Cys)
|
rs879254907
|
|
|
NM_000527.5(LDLR):c.1449G>T (p.Trp483Cys)
|
rs879254907
|
|
|
NM_000527.5(LDLR):c.1456del (p.Ser486fs)
|
rs1131692209
|
|
|
NM_000527.5(LDLR):c.1459_1472dup (p.Asp492fs)
|
rs1600727715
|
|
|
NM_000527.5(LDLR):c.1461dup (p.Ile488fs)
|
rs1555805409
|
|
|
NM_000527.5(LDLR):c.1462_1463insC (p.Ile488fs)
|
rs1555805413
|
|
|
NM_000527.5(LDLR):c.1463T>A (p.Ile488Asn)
|
rs879254913
|
|
|
NM_000527.5(LDLR):c.1463T>C (p.Ile488Thr)
|
|
|
|
NM_000527.5(LDLR):c.1466A>G (p.Tyr489Cys)
|
rs879254914
|
|
|
NM_000527.5(LDLR):c.1467C>A (p.Tyr489Ter)
|
rs370777955
|
|
|
NM_000527.5(LDLR):c.1467C>G (p.Tyr489Ter)
|
rs370777955
|
|
|
NM_000527.5(LDLR):c.1468T>C (p.Trp490Arg)
|
rs730880130
|
|
|
NM_000527.5(LDLR):c.1469G>A (p.Trp490Ter)
|
rs875989922
|
|
|
NM_000527.5(LDLR):c.1469G>T (p.Trp490Leu)
|
rs875989922
|
|
|
NM_000527.5(LDLR):c.1470G>A (p.Trp490Ter)
|
rs879254915
|
|
|
NM_000527.5(LDLR):c.1470G>C (p.Trp490Cys)
|
rs879254915
|
|
|
NM_000527.5(LDLR):c.1471dup (p.Thr491fs)
|
rs879254916
|
|
|
NM_000527.5(LDLR):c.1474G>A (p.Asp492Asn)
|
|
|
|
NM_000527.5(LDLR):c.1474del (p.Asp492fs)
|
|
|
|
NM_000527.5(LDLR):c.1475A>G (p.Asp492Gly)
|
rs879254918
|
|
|
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.1486_1487del (p.Gly496fs)
|
rs869025454
|
|
|
NM_000527.5(LDLR):c.148del (p.Ala50fs)
|
rs879254417
|
|
|
NM_000527.5(LDLR):c.1490del (p.Thr497fs)
|
rs2077419273
|
|
|
NM_000527.5(LDLR):c.1492_1493del (p.Val498fs)
|
rs2077419354
|
|
|
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.1498_1499del (p.Val500fs)
|
rs879254923
|
|
|
NM_000527.5(LDLR):c.1502dup (p.Asp502fs)
|
rs879254924
|
|
|
NM_000527.5(LDLR):c.1503_1504dup (p.Asp502fs)
|
rs2147249259
|
|
|
NM_000527.5(LDLR):c.1504G>T (p.Asp502Tyr)
|
rs879254925
|
|
|
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.1516dup (p.Val506fs)
|
rs2147249327
|
|
|
NM_000527.5(LDLR):c.1518_1586+340del
|
|
|
|
NM_000527.5(LDLR):c.1520A>C (p.Lys507Thr)
|
rs879254929
|
|
|
NM_000527.5(LDLR):c.1521G>C (p.Lys507Asn)
|
rs1555805490
|
|
|
NM_000527.5(LDLR):c.1522delinsCTGAAT (p.Arg508fs)
|
rs879254930
|
|
|
NM_000527.5(LDLR):c.1525A>G (p.Lys509Glu)
|
rs879254931
|
|
|
NM_000527.5(LDLR):c.1529del (p.Thr510fs)
|
rs1057519673
|
|
|
NM_000527.5(LDLR):c.1530del (p.Leu511fs)
|
rs1131692210
|
|
|
NM_000527.5(LDLR):c.1531_1532dup (p.Leu511fs)
|
rs2147249432
|
|
|
NM_000527.5(LDLR):c.1532T>G (p.Leu511Ter)
|
rs879254932
|
|
|
NM_000527.5(LDLR):c.1533dup (p.Phe512fs)
|
rs879254933
|
|
|
NM_000527.5(LDLR):c.1540G>T (p.Glu514Ter)
|
rs1555805507
|
|
|
NM_000527.5(LDLR):c.1549T>C (p.Ser517Pro)
|
rs879254936
|
|
|
NM_000527.5(LDLR):c.1549_1555del (p.Ser517fs)
|
rs879254935
|
|
|
NM_000527.5(LDLR):c.1550C>T (p.Ser517Phe)
|
rs749126200
|
|
|
NM_000527.5(LDLR):c.1555C>A (p.Pro519Thr)
|
rs875989923
|
|
|
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.156C>A (p.Cys52Ter)
|
|
|
|
NM_000527.5(LDLR):c.1570_1579del (p.Val524fs)
|
rs1555805530
|
|
|
NM_000527.5(LDLR):c.1571_1572del (p.Val524fs)
|
rs1057519674
|
|
|
NM_000527.5(LDLR):c.1571_1586+3dup
|
rs1555805531
|
|
|
NM_000527.5(LDLR):c.1573_1586+5del
|
|
|
|
NM_000527.5(LDLR):c.1574A>T (p.Asp525Val)
|
rs879254943
|
|
|
NM_000527.5(LDLR):c.1576C>A (p.Pro526Thr)
|
rs730882106
|
|
|
NM_000527.5(LDLR):c.1577C>G (p.Pro526Arg)
|
rs879254944
|
|
|
NM_000527.5(LDLR):c.157C>T (p.Gln53Ter)
|
rs879254419
|
|
|
NM_000527.5(LDLR):c.1586+1G>A
|
|
|
|
NM_000527.5(LDLR):c.1586+1G>C
|
rs755389753
|
|
|
NM_000527.5(LDLR):c.1586+1G>T
|
rs755389753
|
|
|
NM_000527.5(LDLR):c.1586+2T>A
|
rs879254945
|
|
|
NM_000527.5(LDLR):c.1586+2T>C
|
rs879254945
|
|
|
NM_000527.5(LDLR):c.1586+5G>A
|
rs781362878
|
|
|
NM_000527.5(LDLR):c.1586+5G>C
|
rs781362878
|
|
|
NM_000527.5(LDLR):c.1587-1G>A
|
rs879254948
|
|
|
NM_000527.5(LDLR):c.1587-2A>T
|
rs879254947
|
|
|
NM_000527.5(LDLR):c.1587-5_1618del
|
rs1555805930
|
|
|
NM_000527.5(LDLR):c.1587_1591del (p.Phe530fs)
|
rs879254949
|
|
|
NM_000527.5(LDLR):c.1592T>G (p.Met531Arg)
|
rs779913921
|
|
|
NM_000527.5(LDLR):c.1594T>A (p.Tyr532Asn)
|
rs1600732566
|
|
|
NM_000527.5(LDLR):c.1595_1596dup (p.Trp533fs)
|
rs1568606711
|
|
|
NM_000527.5(LDLR):c.1596C>G (p.Tyr532Ter)
|
rs1555805947
|
|
|
NM_000527.5(LDLR):c.1597T>A (p.Trp533Arg)
|
|
|
|
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.1599G>A (p.Trp533Ter)
|
rs879254952
|
|
|
NM_000527.5(LDLR):c.1601C>A (p.Thr534Asn)
|
rs879254954
|
|
|
NM_000527.5(LDLR):c.1603G>A (p.Asp535Asn)
|
rs879254955
|
|
|
NM_000527.5(LDLR):c.1603G>T (p.Asp535Tyr)
|
rs879254955
|
|
|
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.1613_1622del (p.Thr538fs)
|
|
|
|
NM_000527.5(LDLR):c.1618G>A (p.Ala540Thr)
|
|
|
|
NM_000527.5(LDLR):c.1618G>T (p.Ala540Ser)
|
rs769370816
|
|
|
NM_000527.5(LDLR):c.1620dup (p.Lys541fs)
|
rs1555805985
|
|
|
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.1632_1633del (p.Gly546fs)
|
rs1060499926
|
|
|
NM_000527.5(LDLR):c.1632del (p.Gly546fs)
|
rs879254964
|
|
|
NM_000527.5(LDLR):c.1633G>A (p.Gly545Arg)
|
rs879254965
|
|
|
NM_000527.5(LDLR):c.1633G>C (p.Gly545Arg)
|
rs879254965
|
|
|
NM_000527.5(LDLR):c.1636G>C (p.Gly546Arg)
|
rs879254966
|
|
|
NM_000527.5(LDLR):c.1637G>A (p.Gly546Asp)
|
|
|
|
NM_000527.5(LDLR):c.1637G>T (p.Gly546Val)
|
rs28942081
|
|
|
NM_000527.5(LDLR):c.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.1646G>A (p.Gly549Asp)
|
|
|
|
NM_000527.5(LDLR):c.1646G>T (p.Gly549Val)
|
rs28941776
|
|
|
NM_000527.5(LDLR):c.1647dup (p.Val550fs)
|
rs1600732894
|
|
|
NM_000527.5(LDLR):c.1648del (p.Val550fs)
|
rs2077459772
|
|
|
NM_000527.5(LDLR):c.1651del (p.Asp551fs)
|
rs879254973
|
|
|
NM_000527.5(LDLR):c.1655del (p.Ile552fs)
|
rs879254972
|
|
|
NM_000527.5(LDLR):c.1656del (p.Tyr553fs)
|
|
|
|
NM_000527.5(LDLR):c.1658_1660del (p.Tyr553del)
|
rs1555806019
|
|
|
NM_000527.5(LDLR):c.1659C>G (p.Tyr553Ter)
|
rs564258872
|
|
|
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.1661del (p.Ser554fs)
|
rs2147255485
|
|
|
NM_000527.5(LDLR):c.1662_1669dup (p.Thr557delinsSerTrpTer)
|
rs879254977
|
|
|
NM_000527.5(LDLR):c.166T>C (p.Ser56Pro)
|
rs878854026
|
|
|
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.1673_1676del (p.Glu558fs)
|
|
|
|
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.1683del (p.Gln561fs)
|
rs879254982
|
|
|
NM_000527.5(LDLR):c.1684_1686dup (p.Trp562dup)
|
rs879254983
|
|
|
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.1688C>A (p.Pro563His)
|
rs879254987
|
|
|
NM_000527.5(LDLR):c.1688_1695del (p.Pro563fs)
|
rs2077460968
|
|
|
NM_000527.5(LDLR):c.1689dup (p.Asn564fs)
|
rs879254988
|
|
|
NM_000527.5(LDLR):c.1690A>G (p.Asn564Asp)
|
rs397509365
|
|
|
NM_000527.5(LDLR):c.1691A>C (p.Asn564Thr)
|
rs758194385
|
|
|
NM_000527.5(LDLR):c.1693_1696del (p.Gly565fs)
|
rs1555806088
|
|
|
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.169G>A (p.Asp57Asn)
|
rs879254420
|
|
|
NM_000527.5(LDLR):c.1702C>G (p.Leu568Val)
|
rs746959386
|
|
|
NM_000527.5(LDLR):c.1702_1705dup (p.Asp569fs)
|
rs879254990
|
|
|
NM_000527.5(LDLR):c.1703T>C (p.Leu568Pro)
|
rs879254991
|
|
|
NM_000527.5(LDLR):c.1705+1G>A
|
rs875989926
|
|
|
NM_000527.5(LDLR):c.1705+1G>C
|
rs875989926
|
|
|
NM_000527.5(LDLR):c.1705+1G>T
|
rs875989926
|
|
|
NM_000527.5(LDLR):c.1705+1del
|
rs879254992
|
|
|
NM_000527.5(LDLR):c.1705+2T>C
|
rs1555806110
|
|
|
NM_000527.5(LDLR):c.1705+2_1705+3insC
|
rs879254994
|
|
|
NM_000527.5(LDLR):c.1706-1G>A
|
rs879254996
|
|
|
NM_000527.5(LDLR):c.1706-1G>C
|
rs879254996
|
|
|
NM_000527.5(LDLR):c.1706-1G>T
|
rs879254996
|
|
|
NM_000527.5(LDLR):c.1706-2A>C
|
rs878854027
|
|
|
NM_000527.5(LDLR):c.1706-2A>T
|
rs878854027
|
|
|
NM_000527.5(LDLR):c.1715G>A (p.Ser572Asn)
|
rs879254997
|
|
|
NM_000527.5(LDLR):c.1715_1719delinsA (p.Ser572fs)
|
rs875989927
|
|
|
NM_000527.5(LDLR):c.1718del (p.Gly573fs)
|
rs879254998
|
|
|
NM_000527.5(LDLR):c.1721G>A (p.Arg574His)
|
|
|
|
NM_000527.5(LDLR):c.1724T>C (p.Leu575Pro)
|
rs1249568272
|
|
|
NM_000527.5(LDLR):c.1727A>G (p.Tyr576Cys)
|
rs879254999
|
|
|
NM_000527.5(LDLR):c.1729T>A (p.Trp577Arg)
|
|
|
|
NM_000527.5(LDLR):c.1729T>C (p.Trp577Arg)
|
rs879255000
|
|
|
NM_000527.5(LDLR):c.1729T>G (p.Trp577Gly)
|
rs879255000
|
|
|
NM_000527.5(LDLR):c.172G>T (p.Glu58Ter)
|
rs879254423
|
|
|
NM_000527.5(LDLR):c.172del (p.Glu58fs)
|
rs879254422
|
|
|
NM_000527.5(LDLR):c.1730G>A (p.Trp577Ter)
|
rs138947766
|
|
|
NM_000527.5(LDLR):c.1730_1731delinsAA (p.Trp577Ter)
|
|
|
|
NM_000527.5(LDLR):c.1731G>A (p.Trp577Ter)
|
rs875989928
|
|
|
NM_000527.5(LDLR):c.1731G>C (p.Trp577Cys)
|
rs875989928
|
|
|
NM_000527.5(LDLR):c.1731G>T (p.Trp577Cys)
|
rs875989928
|
|
|
NM_000527.5(LDLR):c.1732G>T (p.Val578Phe)
|
rs1301458707
|
|
|
NM_000527.5(LDLR):c.1735G>A (p.Asp579Asn)
|
rs875989929
|
|
|
NM_000527.5(LDLR):c.1735G>T (p.Asp579Tyr)
|
rs875989929
|
|
|
NM_000527.5(LDLR):c.1736A>T (p.Asp579Val)
|
rs879255003
|
|
|
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.1739C>T (p.Ser580Phe)
|
rs934496989
|
|
|
NM_000527.5(LDLR):c.1741A>T (p.Lys581Ter)
|
rs1060499927
|
|
|
NM_000527.5(LDLR):c.1743A>T (p.Lys581Asn)
|
rs1555806428
|
|
|
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.1745T>C (p.Leu582Pro)
|
rs875989930
|
|
|
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.1753del (p.Ile585fs)
|
rs1555806448
|
|
|
NM_000527.5(LDLR):c.1754T>A (p.Ile585Asn)
|
rs879255012
|
|
|
NM_000527.5(LDLR):c.1756del (p.Ser586fs)
|
rs879255013
|
|
|
NM_000527.5(LDLR):c.1757C>A (p.Ser586Ter)
|
rs1555806455
|
|
|
NM_000527.5(LDLR):c.1757C>G (p.Ser586Ter)
|
rs1555806455
|
|
|
NM_000527.5(LDLR):c.1759del (p.Ser587fs)
|
rs879255014
|
|
|
NM_000527.5(LDLR):c.1761C>G (p.Ser587Arg)
|
rs753430282
|
|
|
NM_000527.5(LDLR):c.1766_1767del (p.Asp589fs)
|
rs879255015
|
|
|
NM_000527.5(LDLR):c.1766del (p.Asp589fs)
|
rs879255016
|
|
|
NM_000527.5(LDLR):c.1769_1774del (p.Val590_Asn591del)
|
rs1555806467
|
|
|
NM_000527.5(LDLR):c.1772dup (p.Asn591fs)
|
|
|
|
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.1778dup (p.Asn594fs)
|
rs875989931
|
|
|
NM_000527.5(LDLR):c.1779del (p.Asn594fs)
|
rs879255019
|
|
|
NM_000527.5(LDLR):c.1783C>T (p.Arg595Trp)
|
|
|
|
NM_000527.5(LDLR):c.1784G>T (p.Arg595Leu)
|
rs201102492
|
|
|
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.178C>T (p.Gln60Ter)
|
rs794728585
|
|
|
NM_000527.5(LDLR):c.178del (p.Gln60fs)
|
rs1555802312
|
|
|
NM_000527.5(LDLR):c.1792A>C (p.Ile598Leu)
|
rs879255023
|
|
|
NM_000527.5(LDLR):c.1793T>A (p.Ile598Asn)
|
rs879255024
|
|
|
NM_000527.5(LDLR):c.1794_1797del (p.Ile598fs)
|
|
|
|
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.17G>A (p.Trp6Ter)
|
rs2077057318
|
|
|
NM_000527.5(LDLR):c.1801G>C (p.Asp601His)
|
|
|
|
NM_000527.5(LDLR):c.1802dup (p.Asp601fs)
|
rs879255028
|
|
|
NM_000527.5(LDLR):c.1804G>T (p.Glu602Ter)
|
|
|
|
NM_000527.5(LDLR):c.1807A>T (p.Lys603Ter)
|
rs879255029
|
|
|
NM_000527.5(LDLR):c.1808dup (p.Arg604fs)
|
rs1555806526
|
|
|
NM_000527.5(LDLR):c.1810_1811del (p.Arg604fs)
|
|
|
|
NM_000527.5(LDLR):c.1811delinsCT (p.Arg604fs)
|
rs1555806529
|
|
|
NM_000527.5(LDLR):c.1813C>T (p.Leu605=)
|
rs879255031
|
|
|
NM_000527.5(LDLR):c.1814T>C (p.Leu605Pro)
|
rs875989932
|
|
|
NM_000527.5(LDLR):c.1815_1825del (p.Ala606fs)
|
rs879255032
|
|
|
NM_000527.5(LDLR):c.1819C>G (p.His607Asp)
|
|
|
|
NM_000527.5(LDLR):c.181G>T (p.Glu61Ter)
|
rs2077195468
|
|
|
NM_000527.5(LDLR):c.1820A>G (p.His607Arg)
|
rs879255033
|
|
|
NM_000527.5(LDLR):c.1823C>T (p.Pro608Leu)
|
rs879255035
|
|
|
NM_000527.5(LDLR):c.1824del (p.Phe609fs)
|
rs2147257944
|
|
|
NM_000527.5(LDLR):c.1825T>C (p.Phe609Leu)
|
rs879255036
|
|
|
NM_000527.5(LDLR):c.1829C>G (p.Ser610Cys)
|
rs879255038
|
|
|
NM_000527.5(LDLR):c.1829C>T (p.Ser610Phe)
|
rs879255038
|
|
|
NM_000527.5(LDLR):c.1829_1831del (p.Ser610del)
|
rs879255037
|
|
|
NM_000527.5(LDLR):c.1829_1840dup (p.Ser610_Val613dup)
|
rs1555806546
|
|
|
NM_000527.5(LDLR):c.1832dup (p.Leu611fs)
|
rs879255039
|
|
|
NM_000527.5(LDLR):c.1833G>C (p.Leu611Phe)
|
rs879255041
|
|
|
NM_000527.5(LDLR):c.1836C>A (p.Ala612=)
|
rs143872778
|
|
|
NM_000527.5(LDLR):c.1837G>A (p.Val613Ile)
|
|
|
|
NM_000527.5(LDLR):c.1837_1840del (p.Val613fs)
|
|
|
|
NM_000527.5(LDLR):c.1841_1842del (p.Val613_Phe614insTer)
|
rs879255044
|
|
|
NM_000527.5(LDLR):c.1842_1845+2del
|
rs1555806582
|
|
|
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+11C>G
|
rs370245937
|
|
|
NM_000527.5(LDLR):c.1845+15C>A
|
rs759867686
|
|
|
NM_000527.5(LDLR):c.1845+1G>A
|
rs879255049
|
|
|
NM_000527.5(LDLR):c.1845+1G>C
|
|
|
|
NM_000527.5(LDLR):c.1845+1G>T
|
rs879255049
|
|
|
NM_000527.5(LDLR):c.1845+1del
|
|
|
|
NM_000527.5(LDLR):c.1845+2T>A
|
rs778408161
|
|
|
NM_000527.5(LDLR):c.1845+2T>C
|
|
|
|
NM_000527.5(LDLR):c.1845+2del
|
|
|
|
NM_000527.5(LDLR):c.1845+915_2141-498del
|
|
|
|
NM_000527.5(LDLR):c.1846-1G>T
|
|
|
|
NM_000527.5(LDLR):c.1846-4_1850del
|
|
|
|
NM_000527.5(LDLR):c.1846_1865del (p.Asp616fs)
|
rs1131692219
|
|
|
NM_000527.5(LDLR):c.1851del (p.Val618fs)
|
rs1568610747
|
|
|
NM_000527.5(LDLR):c.1853T>G (p.Val618Gly)
|
rs1057519677
|
|
|
NM_000527.5(LDLR):c.1853_1864del (p.Val618_Thr621del)
|
rs879255052
|
|
|
NM_000527.5(LDLR):c.1855T>C (p.Phe619Leu)
|
rs747134711
|
|
|
NM_000527.5(LDLR):c.1855_1856insA (p.Phe619fs)
|
rs879255053
|
|
|
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.185C>T (p.Thr62Met)
|
|
|
|
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.1860G>T (p.Trp620Cys)
|
rs875989933
|
|
|
NM_000527.5(LDLR):c.1860dup (p.Thr621fs)
|
rs879255057
|
|
|
NM_000527.5(LDLR):c.1862C>G (p.Thr621Arg)
|
rs879255058
|
|
|
NM_000527.5(LDLR):c.1864G>A (p.Asp622Asn)
|
rs879255059
|
|
|
NM_000527.5(LDLR):c.1865A>G (p.Asp622Gly)
|
rs879255060
|
|
|
NM_000527.5(LDLR):c.1867_1868del (p.Ile623fs)
|
rs879255061
|
|
|
NM_000527.5(LDLR):c.1867dup (p.Ile623fs)
|
rs1555807206
|
|
|
NM_000527.5(LDLR):c.1868TCA[1] (p.Ile624del)
|
|
|
|
NM_000527.5(LDLR):c.1872del (p.Asn625fs)
|
rs879255063
|
|
|
NM_000527.5(LDLR):c.1876G>A (p.Glu626Lys)
|
|
|
|
NM_000527.5(LDLR):c.1876G>T (p.Glu626Ter)
|
|
|
|
NM_000527.5(LDLR):c.1876del (p.Glu626fs)
|
rs879255065
|
|
|
NM_000527.5(LDLR):c.1878del (p.Ala627fs)
|
rs1057516134
|
|
|
NM_000527.5(LDLR):c.1879G>A (p.Ala627Thr)
|
rs879255066
|
|
|
NM_000527.5(LDLR):c.187T>C (p.Cys63Arg)
|
rs879254426
|
|
|
NM_000527.5(LDLR):c.1880C>A (p.Ala627Asp)
|
rs875989934
|
|
|
NM_000527.5(LDLR):c.1885_1886insA (p.Phe629fs)
|
|
|
|
NM_000527.5(LDLR):c.1885_1889delinsGATCATCAACC (p.Phe629_Ser630delinsAspHisGlnPro)
|
|
|
|
NM_000527.5(LDLR):c.1886del (p.Phe629fs)
|
rs879255068
|
|
|
NM_000527.5(LDLR):c.188G>T (p.Cys63Phe)
|
rs879254427
|
|
|
NM_000527.5(LDLR):c.1891_2311+1062del
|
|
|
|
NM_000527.5(LDLR):c.1891_2311+1065del
|
|
|
|
NM_000527.5(LDLR):c.1892C>A (p.Ala631Asp)
|
rs879255070
|
|
|
NM_000527.5(LDLR):c.1897C>T (p.Arg633Cys)
|
|
|
|
NM_000527.5(LDLR):c.1898G>T (p.Arg633Leu)
|
rs754536745
|
|
|
NM_000527.5(LDLR):c.190+1G>A
|
rs879254428
|
|
|
NM_000527.5(LDLR):c.190+5G>A
|
rs1131692190
|
|
|
NM_000527.5(LDLR):c.1904_1905del (p.Thr635fs)
|
rs2077524382
|
|
|
NM_000527.5(LDLR):c.191-1G>A
|
rs879254433
|
|
|
NM_000527.5(LDLR):c.191-1G>T
|
rs879254433
|
|
|
NM_000527.5(LDLR):c.191-2A>G
|
rs544203837
|
|
|
NM_000527.5(LDLR):c.191-2delinsCT
|
rs879254432
|
|
|
NM_000527.5(LDLR):c.191-512_940+631del
|
|
|
|
NM_000527.5(LDLR):c.191-732_740del
|
|
|
|
NM_000527.5(LDLR):c.1911del (p.Asp638fs)
|
rs867272973
|
|
|
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.1922T>A (p.Leu641Ter)
|
rs2077524952
|
|
|
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.1937T>A (p.Leu646Gln)
|
rs1555807261
|
|
|
NM_000527.5(LDLR):c.193_201delinsGACTTCA (p.Ser65fs)
|
rs879254434
|
|
|
NM_000527.5(LDLR):c.193_202delinsGGACTTCA (p.Ser65fs)
|
|
|
|
NM_000527.5(LDLR):c.1943_1944delinsG (p.Ser648fs)
|
rs2147265230
|
|
|
NM_000527.5(LDLR):c.1945C>T (p.Pro649Ser)
|
rs879255080
|
|
|
NM_000527.5(LDLR):c.1946C>T (p.Pro649Leu)
|
rs879255081
|
|
|
NM_000527.5(LDLR):c.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.1953_1965del (p.Met652fs)
|
|
|
|
NM_000527.5(LDLR):c.1954_1955del (p.Met652fs)
|
rs875989935
|
|
|
NM_000527.5(LDLR):c.1955T>C (p.Met652Thr)
|
rs875989936
|
|
|
NM_000527.5(LDLR):c.1955dup (p.Met652fs)
|
|
|
|
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.1965C>G (p.Phe655Leu)
|
rs879255090
|
|
|
NM_000527.5(LDLR):c.196_197del (p.Val66fs)
|
rs875989889
|
|
|
NM_000527.5(LDLR):c.1975_1987+16del
|
rs879255093
|
|
|
NM_000527.5(LDLR):c.1978C>A (p.Gln660Lys)
|
rs193922569
|
|
|
NM_000527.5(LDLR):c.1978C>T (p.Gln660Ter)
|
rs193922569
|
|
|
NM_000527.5(LDLR):c.1979A>G (p.Gln660Arg)
|
rs879255095
|
|
|
NM_000527.5(LDLR):c.1980G>C (p.Gln660His)
|
rs1382517876
|
|
|
NM_000527.5(LDLR):c.1980_1983del (p.Pro661fs)
|
rs1057519679
|
|
|
NM_000527.5(LDLR):c.1982C>T (p.Pro661Leu)
|
|
|
|
NM_000527.5(LDLR):c.1986_1987delinsC (p.Arg662fs)
|
rs879255096
|
|
|
NM_000527.5(LDLR):c.1987+1del
|
rs879255097
|
|
|
NM_000527.5(LDLR):c.1987+2T>A
|
rs1600742966
|
|
|
NM_000527.5(LDLR):c.1987+2T>G
|
rs1600742966
|
|
|
NM_000527.5(LDLR):c.1988-1G>A
|
rs1555807335
|
|
|
NM_000527.5(LDLR):c.1988-1G>C
|
rs1555807335
|
|
|
NM_000527.5(LDLR):c.1988-2A>G
|
rs879255101
|
|
|
NM_000527.5(LDLR):c.1988-2A>T
|
rs879255101
|
|
|
NM_000527.5(LDLR):c.1988-50_2007del
|
|
|
|
NM_000527.5(LDLR):c.1988-52_2006del
|
rs1555807306
|
|
|
NM_000527.5(LDLR):c.1988G>C (p.Gly663Ala)
|
rs879255102
|
|
|
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.1999T>C (p.Cys667Arg)
|
|
|
|
NM_000527.5(LDLR):c.199dup (p.Thr67fs)
|
rs879254436
|
|
|
NM_000527.5(LDLR):c.1A>C (p.Met1Leu)
|
rs879254382
|
|
|
NM_000527.5(LDLR):c.1A>G (p.Met1Val)
|
rs879254382
|
|
|
NM_000527.5(LDLR):c.1A>T (p.Met1Leu)
|
rs879254382
|
|
|
NM_000527.5(LDLR):c.1_67del (p.Met1fs)
|
|
|
|
NM_000527.5(LDLR):c.2000G>A (p.Cys667Tyr)
|
rs28942083
|
|
|
NM_000527.5(LDLR):c.2000del (p.Cys667fs)
|
rs879255107
|
|
|
NM_000527.5(LDLR):c.2001T>A (p.Cys667Ter)
|
rs879255109
|
|
|
NM_000527.5(LDLR):c.2001T>G (p.Cys667Trp)
|
rs879255109
|
|
|
NM_000527.5(LDLR):c.2001_2002del (p.Cys667_Glu668delinsTer)
|
rs1600743301
|
|
|
NM_000527.5(LDLR):c.2001_2007del (p.Trp666_Cys667insTer)
|
rs879255108
|
|
|
NM_000527.5(LDLR):c.2001del (p.Cys667fs)
|
rs1060500988
|
|
|
NM_000527.5(LDLR):c.2011del (p.Thr671fs)
|
rs1555807356
|
|
|
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.2022dup (p.Gly675fs)
|
rs2147265977
|
|
|
NM_000527.5(LDLR):c.2026G>A (p.Gly676Ser)
|
rs745753810
|
|
|
NM_000527.5(LDLR):c.2026G>C (p.Gly676Arg)
|
rs745753810
|
|
|
NM_000527.5(LDLR):c.2026G>T (p.Gly676Cys)
|
rs745753810
|
|
|
NM_000527.5(LDLR):c.2027del (p.Gly676fs)
|
rs875989937
|
|
|
NM_000527.5(LDLR):c.2030G>A (p.Cys677Tyr)
|
rs875989938
|
|
|
NM_000527.5(LDLR):c.2030G>T (p.Cys677Phe)
|
rs875989938
|
|
|
NM_000527.5(LDLR):c.2030_2042del (p.Cys677fs)
|
rs879255113
|
|
|
NM_000527.5(LDLR):c.2031C>A (p.Cys677Ter)
|
|
|
|
NM_000527.5(LDLR):c.2032C>T (p.Gln678Ter)
|
rs879255114
|
|
|
NM_000527.5(LDLR):c.2033_2044del (p.Gln678_Cys681del)
|
rs879255115
|
|
|
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.2039T>C (p.Leu680Pro)
|
rs1555807379
|
|
|
NM_000527.5(LDLR):c.2041T>G (p.Cys681Gly)
|
rs879255118
|
|
|
NM_000527.5(LDLR):c.2042G>A (p.Cys681Tyr)
|
rs201637900
|
|
|
NM_000527.5(LDLR):c.2042G>C (p.Cys681Ser)
|
rs201637900
|
|
|
NM_000527.5(LDLR):c.2043C>A (p.Cys681Ter)
|
|
|
|
NM_000527.5(LDLR):c.2043C>G (p.Cys681Trp)
|
rs121908031
|
|
|
NM_000527.5(LDLR):c.2044C>T (p.Leu682Phe)
|
rs1131692220
|
|
|
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.2050_2063delinsC (p.Ala684fs)
|
rs1555807390
|
|
|
NM_000527.5(LDLR):c.2050del (p.Ala684fs)
|
rs1555807388
|
|
|
NM_000527.5(LDLR):c.2053C>A (p.Pro685Thr)
|
rs2569548
|
|
|
NM_000527.5(LDLR):c.2053C>T (p.Pro685Ser)
|
rs2569548
|
|
|
NM_000527.5(LDLR):c.2054C>T (p.Pro685Leu)
|
|
|
|
NM_000527.5(LDLR):c.2054del (p.Pro685fs)
|
rs879255122
|
|
|
NM_000527.5(LDLR):c.2055_2067del (p.Gln686fs)
|
rs879255123
|
|
|
NM_000527.5(LDLR):c.2055_2068del (p.Gln686fs)
|
rs2077532372
|
|
|
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.2061del (p.Asn688fs)
|
rs1131692221
|
|
|
NM_000527.5(LDLR):c.2062_2063insC (p.Asn688fs)
|
rs1555807421
|
|
|
NM_000527.5(LDLR):c.2063del (p.Asn688fs)
|
rs879255128
|
|
|
NM_000527.5(LDLR):c.2063dup (p.Asn688fs)
|
rs879255128
|
|
|
NM_000527.5(LDLR):c.2068C>G (p.His690Asp)
|
rs757009067
|
|
|
NM_000527.5(LDLR):c.2068del (p.His690fs)
|
rs879255130
|
|
|
NM_000527.5(LDLR):c.2068dup (p.His690fs)
|
|
|
|
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.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.2087G>A (p.Cys696Tyr)
|
rs879255134
|
|
|
NM_000527.5(LDLR):c.2088C>A (p.Cys696Ter)
|
rs112954220
|
|
|
NM_000527.5(LDLR):c.2089G>A (p.Ala697Thr)
|
rs776217028
|
|
|
NM_000527.5(LDLR):c.2092T>C (p.Cys698Arg)
|
|
|
|
NM_000527.5(LDLR):c.2092del (p.Cys698fs)
|
rs879255135
|
|
|
NM_000527.5(LDLR):c.2093G>A (p.Cys698Tyr)
|
|
|
|
NM_000527.5(LDLR):c.2093G>T (p.Cys698Phe)
|
rs879255136
|
|
|
NM_000527.5(LDLR):c.2094C>A (p.Cys698Ter)
|
|
|
|
NM_000527.5(LDLR):c.2094C>G (p.Cys698Trp)
|
rs879255137
|
|
|
NM_000527.5(LDLR):c.2096C>T (p.Pro699Leu)
|
|
|
|
NM_000527.5(LDLR):c.2096del (p.Pro699fs)
|
rs879255138
|
|
|
NM_000527.5(LDLR):c.2099A>G (p.Asp700Gly)
|
rs879255139
|
|
|
NM_000527.5(LDLR):c.2099_2102dup (p.Met702fs)
|
|
|
|
NM_000527.5(LDLR):c.2100C>G (p.Asp700Glu)
|
rs759858813
|
|
|
NM_000527.5(LDLR):c.2108_2111dup (p.Arg706fs)
|
rs879255140
|
|
|
NM_000527.5(LDLR):c.2108_2114del (p.Leu703fs)
|
rs879255141
|
|
|
NM_000527.5(LDLR):c.2108_2114dup (p.Arg706fs)
|
rs879255141
|
|
|
NM_000527.5(LDLR):c.2113G>T (p.Ala705Ser)
|
rs193922570
|
|
|
NM_000527.5(LDLR):c.2113del (p.Ala705fs)
|
rs2077534881
|
|
|
NM_000527.5(LDLR):c.2116_2117insC (p.Arg706fs)
|
rs1555807465
|
|
|
NM_000527.5(LDLR):c.2121_2128dup (p.Ser710delinsThrTer)
|
|
|
|
NM_000527.5(LDLR):c.2128_2131dup (p.Cys711Ter)
|
rs2147266606
|
|
|
NM_000527.5(LDLR):c.2131T>A (p.Cys711Ser)
|
rs879255144
|
|
|
NM_000527.5(LDLR):c.2131T>G (p.Cys711Gly)
|
rs879255144
|
|
|
NM_000527.5(LDLR):c.2132G>A (p.Cys711Tyr)
|
rs879255145
|
|
|
NM_000527.5(LDLR):c.2132G>T (p.Cys711Phe)
|
rs879255145
|
|
|
NM_000527.5(LDLR):c.2133C>A (p.Cys711Ter)
|
rs879255146
|
|
|
NM_000527.5(LDLR):c.2134dup (p.Leu712fs)
|
rs1057519685
|
|
|
NM_000527.5(LDLR):c.2140+1G>A
|
rs145787161
|
|
|
NM_000527.5(LDLR):c.2140+1G>T
|
rs145787161
|
|
|
NM_000527.5(LDLR):c.2140+1_2140+12del
|
rs1555807475
|
|
|
NM_000527.5(LDLR):c.2140+2T>C
|
rs879255147
|
|
|
NM_000527.5(LDLR):c.2140+86C>G
|
rs587776886
|
|
|
NM_000527.5(LDLR):c.2140G>C (p.Glu714Gln)
|
rs869320652
|
|
|
NM_000527.5(LDLR):c.2141-2A>G
|
|
|
|
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.2180_2184dup (p.Leu729fs)
|
rs1555808044
|
|
|
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_2195dup (p.Ser732fs)
|
rs2147272924
|
|
|
NM_000527.5(LDLR):c.2191_2203dup (p.Ala735fs)
|
rs879255160
|
|
|
NM_000527.5(LDLR):c.2191del (p.Val731fs)
|
rs879255161
|
|
|
NM_000527.5(LDLR):c.2193dup (p.Ser732fs)
|
rs2147272964
|
|
|
NM_000527.5(LDLR):c.2194_2198dup (p.Thr734fs)
|
rs2147272953
|
|
|
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.2230dup (p.Arg744fs)
|
|
|
|
NM_000527.5(LDLR):c.2232_2290del (p.Pro745fs)
|
rs2147273159
|
|
|
NM_000527.5(LDLR):c.2233_2291del (p.Pro745fs)
|
rs1555808094
|
|
|
NM_000527.5(LDLR):c.2242G>A (p.Asp748Asn)
|
rs150104358
|
|
|
NM_000527.5(LDLR):c.224G>A (p.Cys75Tyr)
|
rs875989890
|
|
|
NM_000527.5(LDLR):c.2251del (p.Arg751fs)
|
rs1555808107
|
|
|
NM_000527.5(LDLR):c.2253G>A (p.Arg751=)
|
rs1555808114
|
|
|
NM_000527.5(LDLR):c.2253_2256dup (p.Pro753fs)
|
rs1555808111
|
|
|
NM_000527.5(LDLR):c.2259dup (p.Gly754fs)
|
rs1555808118
|
|
|
NM_000527.5(LDLR):c.2263del (p.Ala755fs)
|
rs1555808120
|
|
|
NM_000527.5(LDLR):c.2264_2273del (p.Ala755fs)
|
rs879255168
|
|
|
NM_000527.5(LDLR):c.2266del (p.Thr756fs)
|
rs879255169
|
|
|
NM_000527.5(LDLR):c.2270del (p.Pro757fs)
|
rs1131692223
|
|
|
NM_000527.5(LDLR):c.2271del (p.Leu759fs)
|
|
|
|
NM_000527.5(LDLR):c.2274del (p.Leu759fs)
|
rs1555808139
|
|
|
NM_000527.5(LDLR):c.227_233del (p.Gly76fs)
|
rs2147216927
|
|
|
NM_000527.5(LDLR):c.2282_2309del (p.Thr761fs)
|
rs1555808143
|
|
|
NM_000527.5(LDLR):c.2282_2309dup (p.Gln770fs)
|
rs1555808143
|
|
|
NM_000527.5(LDLR):c.2292del (p.Ile764fs)
|
rs875989941
|
|
|
NM_000527.5(LDLR):c.2295_2302del (p.Thr766fs)
|
rs1057519687
|
|
|
NM_000527.5(LDLR):c.2297C>T (p.Thr766Ile)
|
rs879255173
|
|
|
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+1941_*1216dup
|
|
|
|
NM_000527.5(LDLR):c.2311+1G>A
|
rs879255175
|
|
|
NM_000527.5(LDLR):c.2311+1G>T
|
|
|
|
NM_000527.5(LDLR):c.2311+251_*813del
|
|
|
|
NM_000527.5(LDLR):c.2311+2T>G
|
rs879255176
|
|
|
NM_000527.5(LDLR):c.2311G>A (p.Ala771Thr)
|
|
|
|
NM_000527.5(LDLR):c.2312-1G>T
|
|
|
|
NM_000527.5(LDLR):c.2312-2A>G
|
rs2077660035
|
|
|
NM_000527.5(LDLR):c.2312-3C>A
|
|
|
|
NM_000527.5(LDLR):c.2317_2318insTA (p.Gly773fs)
|
rs879255177
|
|
|
NM_000527.5(LDLR):c.2318del (p.Gly773fs)
|
rs879255178
|
|
|
NM_000527.5(LDLR):c.2323_2352del (p.Val775_Pro784del)
|
rs1131692224
|
|
|
NM_000527.5(LDLR):c.232del (p.Arg78fs)
|
rs879254442
|
|
|
NM_000527.5(LDLR):c.2333_2334insC (p.Arg778fs)
|
|
|
|
NM_000527.5(LDLR):c.233del (p.Arg78fs)
|
rs1057516129
|
|
|
NM_000527.5(LDLR):c.2340del (p.Asn780fs)
|
|
|
|
NM_000527.5(LDLR):c.2343_2347del (p.Lys782fs)
|
rs879255181
|
|
|
NM_000527.5(LDLR):c.2344A>T (p.Lys782Ter)
|
rs875989943
|
|
|
NM_000527.5(LDLR):c.2368_2369dup (p.Ser791fs)
|
|
|
|
NM_000527.5(LDLR):c.2368_2374del (p.Ile792fs)
|
rs2077662026
|
|
|
NM_000527.5(LDLR):c.236dup (p.Asn80fs)
|
rs879254443
|
|
|
NM_000527.5(LDLR):c.2376del (p.Ile792fs)
|
|
|
|
NM_000527.5(LDLR):c.2385del (p.Ile796fs)
|
rs879255185
|
|
|
NM_000527.5(LDLR):c.2389+1G>A
|
rs879255186
|
|
|
NM_000527.5(LDLR):c.2389+1G>T
|
rs879255186
|
|
|
NM_000527.5(LDLR):c.2389+2T>G
|
rs879255188
|
|
|
NM_000527.5(LDLR):c.2389+4A>G
|
rs758493597
|
|
|
NM_000527.5(LDLR):c.2389+5G>A
|
rs879255191
|
|
|
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>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.2393_2409del (p.Leu798fs)
|
rs1131692225
|
|
|
NM_000527.5(LDLR):c.2394_2401del (p.Leu799fs)
|
rs1555809471
|
|
|
NM_000527.5(LDLR):c.2395dup (p.Leu799fs)
|
|
|
|
NM_000527.5(LDLR):c.2397_2405del (p.Val800_Leu802del)
|
|
|
|
NM_000527.5(LDLR):c.2397_2412del (p.Val800fs)
|
rs879255197
|
|
|
NM_000527.5(LDLR):c.2399_2403delinsGGGT (p.Val800fs)
|
rs879255198
|
|
|
NM_000527.5(LDLR):c.23T>A (p.Leu8Ter)
|
|
|
|
NM_000527.5(LDLR):c.2400dup (p.Phe801fs)
|
rs1600765031
|
|
|
NM_000527.5(LDLR):c.2402del (p.Phe801fs)
|
rs1555809490
|
|
|
NM_000527.5(LDLR):c.2403_2406del (p.Leu802fs)
|
rs879255200
|
|
|
NM_000527.5(LDLR):c.2407_2424del (p.Cys803_Leu808del)
|
rs879255201
|
|
|
NM_000527.5(LDLR):c.2407_2424dup (p.Cys803_Leu808dup)
|
rs879255201
|
|
|
NM_000527.5(LDLR):c.2408_2409dup (p.Leu804fs)
|
rs879255202
|
|
|
NM_000527.5(LDLR):c.2413G>C (p.Gly805Arg)
|
rs879255204
|
|
|
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.241C>T (p.Arg81Cys)
|
|
|
|
NM_000527.5(LDLR):c.2420_2426del (p.Phe807fs)
|
rs879255209
|
|
|
NM_000527.5(LDLR):c.2422C>G (p.Leu808Val)
|
rs1131692226
|
|
|
NM_000527.5(LDLR):c.2422_2425del (p.Leu808fs)
|
rs1555809520
|
|
|
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.2441G>A (p.Arg814Gln)
|
|
|
|
NM_000527.5(LDLR):c.2446A>C (p.Lys816Gln)
|
rs879255213
|
|
|
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.2449_2453del (p.Asn817fs)
|
rs2147287052
|
|
|
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.2459_2460insTGATGAGGATGGACAGAGAAGGTCTCTGATAAGATTTGTTTCTTTTGCCTCTCCCCTCTCCCCTCTCCCCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAACATCAACAG (p.Ser820_Ile821insAspGluAspGlyGlnArgArgSerLeuIleArgPheValSerPheAlaSerProLeuSerProLeuProXaaXaaXaaXaaLysLysLysLysLysLysLysLysLysLysLysLysAsnIleAsnSer)
|
|
|
|
NM_000527.5(LDLR):c.245G>A (p.Cys82Tyr)
|
rs879254448
|
|
|
NM_000527.5(LDLR):c.245G>T (p.Cys82Phe)
|
rs879254448
|
|
|
NM_000527.5(LDLR):c.2462_2463insTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCCGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAATAATAATAAAAGAACATCAACAGCAT (p.Ile821_Asn822insGlyArgAlaArgTrpLeuThrProValIleProAlaLeuTrpGluAlaGluAlaGlyGlySerTer)
|
rs2147287035
|
|
|
NM_000527.5(LDLR):c.2469_2470insTTTTTTTTTTTTTTTTTNNNNNNNNNNTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACCGCGCCCGGCCAACAGCATCAACTTT (p.Asp824delinsPhePhePhePhePheXaaXaaXaaXaaLeuAlaArgMetValSerIleSerTer)
|
rs2147287083
|
|
|
NM_000527.5(LDLR):c.246C>A (p.Cys82Ter)
|
rs875989891
|
|
|
NM_000527.5(LDLR):c.2475C>A (p.Asn825Lys)
|
rs374045590
|
|
|
NM_000527.5(LDLR):c.2475C>G (p.Asn825Lys)
|
rs374045590
|
|
|
NM_000527.5(LDLR):c.2476C>A (p.Pro826Thr)
|
rs879255217
|
|
|
NM_000527.5(LDLR):c.2476C>T (p.Pro826Ser)
|
rs879255217
|
|
|
NM_000527.5(LDLR):c.2478del (p.Val827fs)
|
rs747344293
|
|
|
NM_000527.5(LDLR):c.2478dup (p.Val827fs)
|
rs747344293
|
|
|
NM_000527.5(LDLR):c.2479G>A (p.Val827Ile)
|
rs137853964
|
|
|
NM_000527.5(LDLR):c.2482dup (p.Tyr828fs)
|
rs1057519690
|
|
|
NM_000527.5(LDLR):c.2483A>C (p.Tyr828Ser)
|
rs28942085
|
|
|
NM_000527.5(LDLR):c.2483A>G (p.Tyr828Cys)
|
|
|
|
NM_000527.5(LDLR):c.2485C>T (p.Gln829Ter)
|
rs2077688650
|
|
|
NM_000527.5(LDLR):c.2487G>C (p.Gln829His)
|
rs2147287215
|
|
|
NM_000527.5(LDLR):c.2488A>T (p.Lys830Ter)
|
rs2147287222
|
|
|
NM_000527.5(LDLR):c.248T>C (p.Ile83Thr)
|
rs1555802745
|
|
|
NM_000527.5(LDLR):c.249delinsGG (p.Ile83fs)
|
rs1600704961
|
|
|
NM_000527.5(LDLR):c.2500_2502delinsC (p.Asp834fs)
|
rs879255219
|
|
|
NM_000527.5(LDLR):c.2500del (p.Asp834fs)
|
rs1555809594
|
|
|
NM_000527.5(LDLR):c.2502dup (p.Glu835Ter)
|
|
|
|
NM_000527.5(LDLR):c.2506G>A (p.Val836Ile)
|
rs879255220
|
|
|
NM_000527.5(LDLR):c.2509del (p.His837fs)
|
|
|
|
NM_000527.5(LDLR):c.250C>T (p.Pro84Ser)
|
rs879254449
|
|
|
NM_000527.5(LDLR):c.251C>G (p.Pro84Arg)
|
rs875989892
|
|
|
NM_000527.5(LDLR):c.251C>T (p.Pro84Leu)
|
rs875989892
|
|
|
NM_000527.5(LDLR):c.251_252insCATTCTG (p.Gln85fs)
|
rs1131692191
|
|
|
NM_000527.5(LDLR):c.2530_2542del (p.Gly844fs)
|
rs2147287353
|
|
|
NM_000527.5(LDLR):c.2531G>A (p.Gly844Asp)
|
rs121908037
|
|
|
NM_000527.5(LDLR):c.253C>T (p.Gln85Ter)
|
rs875989893
|
|
|
NM_000527.5(LDLR):c.2544dup (p.Ser849fs)
|
rs879255222
|
|
|
NM_000527.5(LDLR):c.2546C>A (p.Ser849Ter)
|
rs377437226
|
|
|
NM_000527.5(LDLR):c.2546del (p.Pro848_Ser849insTer)
|
|
|
|
NM_000527.5(LDLR):c.2547+1G>A
|
rs879255224
|
|
|
NM_000527.5(LDLR):c.2547+1G>T
|
|
|
|
NM_000527.5(LDLR):c.2547+2T>G
|
rs2147287476
|
|
|
NM_000527.5(LDLR):c.2547+5G>A
|
rs879255226
|
|
|
NM_000527.5(LDLR):c.2552del (p.Gln851fs)
|
rs879255229
|
|
|
NM_000527.5(LDLR):c.255_313+198del
|
|
|
|
NM_000527.5(LDLR):c.257_265del (p.Phe86_Arg88del)
|
rs879254451
|
|
|
NM_000527.5(LDLR):c.259T>C (p.Trp87Arg)
|
rs121908025
|
|
|
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.262A>G (p.Arg88Gly)
|
rs200660051
|
|
|
NM_000527.5(LDLR):c.263G>A (p.Arg88Lys)
|
rs1398808477
|
|
|
NM_000527.5(LDLR):c.265T>C (p.Cys89Arg)
|
|
|
|
NM_000527.5(LDLR):c.266G>A (p.Cys89Tyr)
|
rs875989894
|
|
|
NM_000527.5(LDLR):c.267C>G (p.Cys89Trp)
|
rs777640882
|
|
|
NM_000527.5(LDLR):c.269A>C (p.Asp90Ala)
|
rs771019366
|
|
|
NM_000527.5(LDLR):c.269A>G (p.Asp90Gly)
|
rs771019366
|
|
|
NM_000527.5(LDLR):c.270T>A (p.Asp90Glu)
|
rs372828849
|
|
|
NM_000527.5(LDLR):c.272del (p.Gly91fs)
|
rs1568592055
|
|
|
NM_000527.5(LDLR):c.274C>G (p.Gln92Glu)
|
rs774467219
|
|
|
NM_000527.5(LDLR):c.274C>T (p.Gln92Ter)
|
rs774467219
|
|
|
NM_000527.5(LDLR):c.274del (p.Gln92fs)
|
rs2077232183
|
|
|
NM_000527.5(LDLR):c.276del (p.Val93fs)
|
|
|
|
NM_000527.5(LDLR):c.283T>A (p.Cys95Ser)
|
rs879254456
|
|
|
NM_000527.5(LDLR):c.283T>C (p.Cys95Arg)
|
rs879254456
|
|
|
NM_000527.5(LDLR):c.283T>G (p.Cys95Gly)
|
rs879254456
|
|
|
NM_000527.5(LDLR):c.284G>A (p.Cys95Tyr)
|
rs879254457
|
|
|
NM_000527.5(LDLR):c.284G>T (p.Cys95Phe)
|
rs879254457
|
|
|
NM_000527.5(LDLR):c.285C>A (p.Cys95Ter)
|
rs139400379
|
|
|
NM_000527.5(LDLR):c.28T>C (p.Trp10Arg)
|
|
|
|
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.298G>A (p.Asp100Asn)
|
rs879254459
|
|
|
NM_000527.5(LDLR):c.299A>G (p.Asp100Gly)
|
rs879254460
|
|
|
NM_000527.5(LDLR):c.29G>A (p.Trp10Ter)
|
rs1555800724
|
|
|
NM_000527.5(LDLR):c.300C>G (p.Asp100Glu)
|
rs766709484
|
|
|
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.305A>C (p.Gln102Pro)
|
rs879254462
|
|
|
NM_000527.5(LDLR):c.30G>A (p.Trp10Ter)
|
rs1568582652
|
|
|
NM_000527.5(LDLR):c.310T>C (p.Cys104Arg)
|
rs879254464
|
|
|
NM_000527.5(LDLR):c.310_313del (p.Cys104fs)
|
rs879254463
|
|
|
NM_000527.5(LDLR):c.311G>A (p.Cys104Tyr)
|
rs875989895
|
|
|
NM_000527.5(LDLR):c.311G>C (p.Cys104Ser)
|
rs875989895
|
|
|
NM_000527.5(LDLR):c.313+1G>C
|
rs112029328
|
|
|
NM_000527.5(LDLR):c.313+1G>T
|
rs112029328
|
|
|
NM_000527.5(LDLR):c.313+1dup
|
rs879254466
|
|
|
NM_000527.5(LDLR):c.313+2T>A
|
rs793888517
|
|
|
NM_000527.5(LDLR):c.313+2dup
|
rs875989897
|
|
|
NM_000527.5(LDLR):c.313+4_313+16del
|
rs1555802822
|
|
|
NM_000527.5(LDLR):c.313+5G>A
|
|
|
|
NM_000527.5(LDLR):c.313+5G>T
|
rs879254467
|
|
|
NM_000527.5(LDLR):c.313_313+1del
|
rs875989896
|
|
|
NM_000527.5(LDLR):c.314-1G>A
|
rs879254471
|
|
|
NM_000527.5(LDLR):c.314-1G>T
|
rs879254471
|
|
|
NM_000527.5(LDLR):c.314-2A>G
|
|
|
|
NM_000527.5(LDLR):c.314-2A>T
|
rs879254470
|
|
|
NM_000527.5(LDLR):c.314-3C>T
|
rs879254469
|
|
|
NM_000527.5(LDLR):c.314-446_1187-386dup
|
|
|
|
NM_000527.5(LDLR):c.318_336del (p.Lys107fs)
|
rs1131692192
|
|
|
NM_000527.5(LDLR):c.318del (p.Lys107fs)
|
rs875989898
|
|
|
NM_000527.5(LDLR):c.318dup (p.Lys107fs)
|
rs875989898
|
|
|
NM_000527.5(LDLR):c.320_332del (p.Lys107fs)
|
|
|
|
NM_000527.5(LDLR):c.320del (p.Lys107fs)
|
|
|
|
NM_000527.5(LDLR):c.320dup (p.Thr108fs)
|
rs879254475
|
|
|
NM_000527.5(LDLR):c.324_325delinsTC (p.Cys109Arg)
|
rs879254476
|
|
|
NM_000527.5(LDLR):c.325_337del (p.Cys109fs)
|
rs879254477
|
|
|
NM_000527.5(LDLR):c.326G>A (p.Cys109Tyr)
|
rs121908042
|
|
|
NM_000527.5(LDLR):c.326G>C (p.Cys109Ser)
|
rs121908042
|
|
|
NM_000527.5(LDLR):c.326G>T (p.Cys109Phe)
|
rs121908042
|
|
|
NM_000527.5(LDLR):c.327C>A (p.Cys109Ter)
|
rs1057519654
|
|
|
NM_000527.5(LDLR):c.327dup (p.Ser110fs)
|
rs879254478
|
|
|
NM_000527.5(LDLR):c.331C>T (p.Gln111Ter)
|
rs2147223179
|
|
|
NM_000527.5(LDLR):c.334_349dup (p.His117fs)
|
|
|
|
NM_000527.5(LDLR):c.335_344del (p.Asp112fs)
|
rs879254479
|
|
|
NM_000527.5(LDLR):c.337G>T (p.Glu113Ter)
|
|
|
|
NM_000527.5(LDLR):c.337dup (p.Glu113fs)
|
rs752191968
|
|
|
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.340_344del (p.Phe114fs)
|
rs1057516132
|
|
|
NM_000527.5(LDLR):c.346T>C (p.Cys116Arg)
|
rs879254482
|
|
|
NM_000527.5(LDLR):c.347_349del (p.Cys116_His117delinsTyr)
|
rs879254483
|
|
|
NM_000527.5(LDLR):c.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.361T>C (p.Cys121Arg)
|
rs879254492
|
|
|
NM_000527.5(LDLR):c.363C>G (p.Cys121Trp)
|
rs1555803191
|
|
|
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.370C>G (p.Arg124Gly)
|
rs879254498
|
|
|
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.373_383delinsAAGTGCA (p.Gln125fs)
|
|
|
|
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.378C>A (p.Phe126Leu)
|
rs762139262
|
|
|
NM_000527.5(LDLR):c.378del (p.Phe126fs)
|
rs1555803213
|
|
|
NM_000527.5(LDLR):c.379del (p.Val127fs)
|
rs878854028
|
|
|
NM_000527.5(LDLR):c.380T>G (p.Val127Gly)
|
rs879254503
|
|
|
NM_000527.5(LDLR):c.382T>C (p.Cys128Arg)
|
rs879254505
|
|
|
NM_000527.5(LDLR):c.382T>G (p.Cys128Gly)
|
rs879254505
|
|
|
NM_000527.5(LDLR):c.382_385del (p.Cys128fs)
|
rs879254504
|
|
|
NM_000527.5(LDLR):c.382del (p.Cys128fs)
|
|
|
|
NM_000527.5(LDLR):c.383G>A (p.Cys128Tyr)
|
rs879254506
|
|
|
NM_000527.5(LDLR):c.389C>G (p.Ser130Ter)
|
rs879254509
|
|
|
NM_000527.5(LDLR):c.389dup (p.Asp131fs)
|
rs879254510
|
|
|
NM_000527.5(LDLR):c.391G>C (p.Asp131His)
|
rs879254511
|
|
|
NM_000527.5(LDLR):c.397dup (p.Asp133fs)
|
rs879254512
|
|
|
NM_000527.5(LDLR):c.3G>A (p.Met1Ile)
|
rs879254383
|
|
|
NM_000527.5(LDLR):c.3G>T (p.Met1Ile)
|
rs879254383
|
|
|
NM_000527.5(LDLR):c.400T>A (p.Cys134Ser)
|
|
|
|
NM_000527.5(LDLR):c.400T>C (p.Cys134Arg)
|
rs875989900
|
|
|
NM_000527.5(LDLR):c.400T>G (p.Cys134Gly)
|
rs875989900
|
|
|
NM_000527.5(LDLR):c.401G>A (p.Cys134Tyr)
|
rs879254514
|
|
|
NM_000527.5(LDLR):c.401G>T (p.Cys134Phe)
|
rs879254514
|
|
|
NM_000527.5(LDLR):c.413C>A (p.Ser138Ter)
|
rs755799528
|
|
|
NM_000527.5(LDLR):c.415G>A (p.Asp139Asn)
|
|
|
|
NM_000527.5(LDLR):c.415_416del (p.Asp139fs)
|
|
|
|
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.417C>G (p.Asp139Glu)
|
rs537484504
|
|
|
NM_000527.5(LDLR):c.418G>A (p.Glu140Lys)
|
|
|
|
NM_000527.5(LDLR):c.419A>G (p.Glu140Gly)
|
rs879254519
|
|
|
NM_000527.5(LDLR):c.41T>A (p.Leu14Ter)
|
rs1600683731
|
|
|
NM_000527.5(LDLR):c.41del (p.Leu14fs)
|
rs879254388
|
|
|
NM_000527.5(LDLR):c.41dup (p.Leu14fs)
|
rs879254388
|
|
|
NM_000527.5(LDLR):c.420G>C (p.Glu140Asp)
|
rs879254520
|
|
|
NM_000527.5(LDLR):c.420G>T (p.Glu140Asp)
|
rs879254520
|
|
|
NM_000527.5(LDLR):c.424_430del (p.Ser142fs)
|
rs879254521
|
|
|
NM_000527.5(LDLR):c.427T>A (p.Cys143Ser)
|
rs875989901
|
|
|
NM_000527.5(LDLR):c.427T>C (p.Cys143Arg)
|
rs875989901
|
|
|
NM_000527.5(LDLR):c.427T>G (p.Cys143Gly)
|
rs875989901
|
|
|
NM_000527.5(LDLR):c.428G>A (p.Cys143Tyr)
|
rs879254522
|
|
|
NM_000527.5(LDLR):c.428G>C (p.Cys143Ser)
|
rs879254522
|
|
|
NM_000527.5(LDLR):c.428G>T (p.Cys143Phe)
|
rs879254522
|
|
|
NM_000527.5(LDLR):c.431C>T (p.Pro144Leu)
|
rs912448894
|
|
|
NM_000527.5(LDLR):c.431_434dup (p.Leu146fs)
|
rs879254523
|
|
|
NM_000527.5(LDLR):c.433dup (p.Val145fs)
|
rs2077271255
|
|
|
NM_000527.5(LDLR):c.440C>T (p.Thr147Ile)
|
rs879254524
|
|
|
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.442_504delinsA (p.Cys148fs)
|
rs1555803259
|
|
|
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.445G>C (p.Gly149Arg)
|
rs879254529
|
|
|
NM_000527.5(LDLR):c.450dup (p.Ala151fs)
|
rs879254530
|
|
|
NM_000527.5(LDLR):c.451G>A (p.Ala151Thr)
|
rs763233960
|
|
|
NM_000527.5(LDLR):c.458T>G (p.Phe153Cys)
|
rs879254533
|
|
|
NM_000527.5(LDLR):c.460C>T (p.Gln154Ter)
|
rs879254534
|
|
|
NM_000527.5(LDLR):c.463T>C (p.Cys155Arg)
|
rs879254535
|
|
|
NM_000527.5(LDLR):c.463T>G (p.Cys155Gly)
|
rs879254535
|
|
|
NM_000527.5(LDLR):c.464G>A (p.Cys155Tyr)
|
rs879254536
|
|
|
NM_000527.5(LDLR):c.464G>T (p.Cys155Phe)
|
rs879254536
|
|
|
NM_000527.5(LDLR):c.465C>A (p.Cys155Ter)
|
rs766094434
|
|
|
NM_000527.5(LDLR):c.466_484dup (p.Pro162fs)
|
rs879254537
|
|
|
NM_000527.5(LDLR):c.467del (p.Asn156fs)
|
rs1057516135
|
|
|
NM_000527.5(LDLR):c.469_470dup (p.Ser157fs)
|
rs2077272442
|
|
|
NM_000527.5(LDLR):c.472del (p.Ser158fs)
|
rs879254538
|
|
|
NM_000527.5(LDLR):c.478T>C (p.Cys160Arg)
|
rs879254540
|
|
|
NM_000527.5(LDLR):c.478T>G (p.Cys160Gly)
|
rs879254540
|
|
|
NM_000527.5(LDLR):c.479G>A (p.Cys160Tyr)
|
|
|
|
NM_000527.5(LDLR):c.480_492del (p.Ile161fs)
|
|
|
|
NM_000527.5(LDLR):c.482T>C (p.Ile161Thr)
|
rs754933794
|
|
|
NM_000527.5(LDLR):c.482_488del (p.Ile161fs)
|
rs879254542
|
|
|
NM_000527.5(LDLR):c.487C>T (p.Gln163Ter)
|
|
|
|
NM_000527.5(LDLR):c.495G>A (p.Trp165Ter)
|
rs879254546
|
|
|
NM_000527.5(LDLR):c.499T>C (p.Cys167Arg)
|
rs879254547
|
|
|
NM_000527.5(LDLR):c.4G>A (p.Gly2Arg)
|
rs5931
|
|
|
NM_000527.5(LDLR):c.500G>A (p.Cys167Tyr)
|
rs879254548
|
|
|
NM_000527.5(LDLR):c.501C>A (p.Cys167Ter)
|
|
|
|
NM_000527.5(LDLR):c.501C>G (p.Cys167Trp)
|
rs752596535
|
|
|
NM_000527.5(LDLR):c.502G>C (p.Asp168His)
|
rs200727689
|
|
|
NM_000527.5(LDLR):c.502G>T (p.Asp168Tyr)
|
rs200727689
|
|
|
NM_000527.5(LDLR):c.505_511del (p.Asn169fs)
|
rs1568594903
|
|
|
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.514G>C (p.Asp172His)
|
rs879254554
|
|
|
NM_000527.5(LDLR):c.514G>T (p.Asp172Tyr)
|
rs879254554
|
|
|
NM_000527.5(LDLR):c.517T>C (p.Cys173Arg)
|
rs879254558
|
|
|
NM_000527.5(LDLR):c.518G>A (p.Cys173Tyr)
|
rs879254560
|
|
|
NM_000527.5(LDLR):c.518G>C (p.Cys173Ser)
|
rs879254560
|
|
|
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.520G>T (p.Glu174Ter)
|
rs777326720
|
|
|
NM_000527.5(LDLR):c.526_533dup (p.Asp178fs)
|
rs879254562
|
|
|
NM_000527.5(LDLR):c.530C>T (p.Ser177Leu)
|
|
|
|
NM_000527.5(LDLR):c.532G>C (p.Asp178His)
|
rs879254565
|
|
|
NM_000527.5(LDLR):c.532_533insT (p.Asp178fs)
|
rs879254564
|
|
|
NM_000527.5(LDLR):c.532del (p.Asp178fs)
|
rs1555803327
|
|
|
NM_000527.5(LDLR):c.533A>G (p.Asp178Gly)
|
rs875989902
|
|
|
NM_000527.5(LDLR):c.533A>T (p.Asp178Val)
|
rs875989902
|
|
|
NM_000527.5(LDLR):c.534T>G (p.Asp178Glu)
|
rs879254566
|
|
|
NM_000527.5(LDLR):c.535G>T (p.Glu179Ter)
|
rs879254567
|
|
|
NM_000527.5(LDLR):c.535_536insGCTCGGAG (p.Glu179fs)
|
rs1555803337
|
|
|
NM_000527.5(LDLR):c.539G>A (p.Trp180Ter)
|
rs879254569
|
|
|
NM_000527.5(LDLR):c.542C>G (p.Pro181Arg)
|
rs557344672
|
|
|
NM_000527.5(LDLR):c.542C>T (p.Pro181Leu)
|
|
|
|
NM_000527.5(LDLR):c.550T>C (p.Cys184Arg)
|
rs879254572
|
|
|
NM_000527.5(LDLR):c.551G>A (p.Cys184Tyr)
|
|
|
|
NM_000527.5(LDLR):c.551G>C (p.Cys184Ser)
|
rs121908039
|
|
|
NM_000527.5(LDLR):c.557del (p.Gly186fs)
|
rs879254573
|
|
|
NM_000527.5(LDLR):c.557dup (p.Leu187fs)
|
rs879254573
|
|
|
NM_000527.5(LDLR):c.558_559insG (p.Leu187fs)
|
rs879254574
|
|
|
NM_000527.5(LDLR):c.560_570del (p.Leu187fs)
|
rs2077275747
|
|
|
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.565_568delinsTG (p.Val189fs)
|
rs1131692195
|
|
|
NM_000527.5(LDLR):c.565del (p.Val189fs)
|
rs1555803354
|
|
|
NM_000527.5(LDLR):c.568_590del (p.Phe190fs)
|
rs879254577
|
|
|
NM_000527.5(LDLR):c.571C>T (p.Gln191Ter)
|
|
|
|
NM_000527.5(LDLR):c.577dup (p.Asp193fs)
|
rs2077276411
|
|
|
NM_000527.5(LDLR):c.578_584del (p.Asp193fs)
|
rs879254579
|
|
|
NM_000527.5(LDLR):c.578del (p.Asp193fs)
|
rs879254580
|
|
|
NM_000527.5(LDLR):c.579del (p.Asp193fs)
|
rs2077276612
|
|
|
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.586C>A (p.Pro196Thr)
|
rs1013147010
|
|
|
NM_000527.5(LDLR):c.589T>C (p.Cys197Arg)
|
rs730882085
|
|
|
NM_000527.5(LDLR):c.589T>G (p.Cys197Gly)
|
rs730882085
|
|
|
NM_000527.5(LDLR):c.590G>T (p.Cys197Phe)
|
rs376459828
|
|
|
NM_000527.5(LDLR):c.591C>A (p.Cys197Ter)
|
rs879254584
|
|
|
NM_000527.5(LDLR):c.591C>G (p.Cys197Trp)
|
rs879254584
|
|
|
NM_000527.5(LDLR):c.593C>A (p.Ser198Ter)
|
rs748672083
|
|
|
NM_000527.5(LDLR):c.599T>G (p.Phe200Cys)
|
rs879254586
|
|
|
NM_000527.5(LDLR):c.600del (p.Phe200fs)
|
rs879254588
|
|
|
NM_000527.5(LDLR):c.600dup (p.Glu201fs)
|
|
|
|
NM_000527.5(LDLR):c.607del (p.His203fs)
|
rs2147224952
|
|
|
NM_000527.5(LDLR):c.609del (p.Cys204fs)
|
rs879254591
|
|
|
NM_000527.5(LDLR):c.610T>C (p.Cys204Arg)
|
rs1057519655
|
|
|
NM_000527.5(LDLR):c.611G>C (p.Cys204Ser)
|
rs879254592
|
|
|
NM_000527.5(LDLR):c.612C>A (p.Cys204Ter)
|
rs1555803383
|
|
|
NM_000527.5(LDLR):c.616dup (p.Ser206fs)
|
rs879254593
|
|
|
NM_000527.5(LDLR):c.617del (p.Ser206fs)
|
rs879254594
|
|
|
NM_000527.5(LDLR):c.618T>A (p.Ser206Arg)
|
rs879254595
|
|
|
NM_000527.5(LDLR):c.618T>G (p.Ser206Arg)
|
rs879254595
|
|
|
NM_000527.5(LDLR):c.618_638del (p.Gly207_Ser213del)
|
rs886039830
|
|
|
NM_000527.5(LDLR):c.619G>T (p.Gly207Cys)
|
rs2147225060
|
|
|
NM_000527.5(LDLR):c.620_626del (p.Gly207fs)
|
rs2147225024
|
|
|
NM_000527.5(LDLR):c.621C>T (p.Gly207=)
|
rs121908044
|
|
|
NM_000527.5(LDLR):c.622G>A (p.Glu208Lys)
|
rs879254597
|
|
|
NM_000527.5(LDLR):c.622G>T (p.Glu208Ter)
|
rs879254597
|
|
|
NM_000527.5(LDLR):c.623_644del (p.Glu208fs)
|
rs879254598
|
|
|
NM_000527.5(LDLR):c.625_626dup (p.Ile210fs)
|
rs879254599
|
|
|
NM_000527.5(LDLR):c.626G>A (p.Cys209Tyr)
|
rs879254600
|
|
|
NM_000527.5(LDLR):c.628A>C (p.Ile210Leu)
|
rs1555803391
|
|
|
NM_000527.5(LDLR):c.631C>G (p.His211Asp)
|
rs771917370
|
|
|
NM_000527.5(LDLR):c.640T>C (p.Trp214Arg)
|
rs1600711159
|
|
|
NM_000527.5(LDLR):c.641G>A (p.Trp214Ter)
|
rs879254605
|
|
|
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.647G>A (p.Cys216Tyr)
|
rs879254611
|
|
|
NM_000527.5(LDLR):c.648_649del (p.Cys216_Asp217delinsTer)
|
rs879254612
|
|
|
NM_000527.5(LDLR):c.648_665del (p.Asp217_Cys222del)
|
|
|
|
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.651TGG[1] (p.Gly219del)
|
rs121908027
|
|
|
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.658_663del (p.Pro220_Asp221del)
|
rs1555803409
|
|
|
NM_000527.5(LDLR):c.660del (p.Asp221fs)
|
rs875989905
|
|
|
NM_000527.5(LDLR):c.661G>A (p.Asp221Asn)
|
rs875989906
|
|
|
NM_000527.5(LDLR):c.661G>T (p.Asp221Tyr)
|
rs875989906
|
|
|
NM_000527.5(LDLR):c.661_673dup (p.Lys225fs)
|
rs1555803428
|
|
|
NM_000527.5(LDLR):c.661_677del (p.Pro220_Asp221insTer)
|
rs879254619
|
|
|
NM_000527.5(LDLR):c.661delinsATCAC (p.Asp221fs)
|
rs2077280444
|
|
|
NM_000527.5(LDLR):c.662A>G (p.Asp221Gly)
|
|
|
|
NM_000527.5(LDLR):c.662_681dup (p.Glu228fs)
|
rs1555803432
|
|
|
NM_000527.5(LDLR):c.663_683dup (p.Asp221_Asp227dup)
|
rs879254620
|
|
|
NM_000527.5(LDLR):c.664_672del (p.Cys222_Asp224del)
|
|
|
|
NM_000527.5(LDLR):c.664_681delinsCCGACTG (p.Cys222fs)
|
rs879254622
|
|
|
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.666C>A (p.Cys222Ter)
|
rs756613387
|
|
|
NM_000527.5(LDLR):c.666C>T (p.Cys222=)
|
rs756613387
|
|
|
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.666_688del (p.Cys222_Asn230delinsTer)
|
rs1131692197
|
|
|
NM_000527.5(LDLR):c.667_677del (p.Cys222_Lys223insTer)
|
|
|
|
NM_000527.5(LDLR):c.668_681dup (p.Glu228fs)
|
rs1555803424
|
|
|
NM_000527.5(LDLR):c.669_676del (p.Lys223fs)
|
rs1555803449
|
|
|
NM_000527.5(LDLR):c.669_679dup (p.Asp227fs)
|
rs879254625
|
|
|
NM_000527.5(LDLR):c.669_683delinsAACTGCGGTAAACTGCGGTAAACT (p.Asp224_Glu228delinsThrAlaValAsnCysGlyLysLeu)
|
rs1131692198
|
|
|
NM_000527.5(LDLR):c.67+1G>A
|
|
|
|
NM_000527.5(LDLR):c.67+1G>T
|
rs762417023
|
|
|
NM_000527.5(LDLR):c.67+2T>A
|
rs879254394
|
|
|
NM_000527.5(LDLR):c.670G>A (p.Asp224Asn)
|
rs387906303
|
|
|
NM_000527.5(LDLR):c.670_672del (p.Asp224del)
|
|
|
|
NM_000527.5(LDLR):c.670dup (p.Asp224fs)
|
rs879254629
|
|
|
NM_000527.5(LDLR):c.671A>G (p.Asp224Gly)
|
rs879254630
|
|
|
NM_000527.5(LDLR):c.671A>T (p.Asp224Val)
|
rs879254630
|
|
|
NM_000527.5(LDLR):c.671_675del (p.Asp224fs)
|
rs1555803455
|
|
|
NM_000527.5(LDLR):c.672_686del (p.Asp224_Glu228del)
|
rs1555803439
|
|
|
NM_000527.5(LDLR):c.673_682delinsTGCA (p.Lys225_Glu228delinsCysLys)
|
|
|
|
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.676T>C (p.Ser226Pro)
|
rs879254635
|
|
|
NM_000527.5(LDLR):c.677_681dup (p.Glu228fs)
|
rs2077282376
|
|
|
NM_000527.5(LDLR):c.678_681dup (p.Glu228Ter)
|
rs2077282376
|
|
|
NM_000527.5(LDLR):c.678del (p.Asp227fs)
|
|
|
|
NM_000527.5(LDLR):c.68-1G>A
|
rs879254397
|
|
|
NM_000527.5(LDLR):c.68-1G>C
|
rs879254397
|
|
|
NM_000527.5(LDLR):c.68-2A>G
|
|
|
|
NM_000527.5(LDLR):c.68-2A>T
|
rs879254396
|
|
|
NM_000527.5(LDLR):c.68-5_68-2del
|
rs879254395
|
|
|
NM_000527.5(LDLR):c.680A>G (p.Asp227Gly)
|
|
|
|
NM_000527.5(LDLR):c.680A>T (p.Asp227Val)
|
rs879254638
|
|
|
NM_000527.5(LDLR):c.680_681del (p.Asp227fs)
|
rs387906305
|
|
|
NM_000527.5(LDLR):c.680_682delinsCA (p.Asp227fs)
|
rs879254637
|
|
|
NM_000527.5(LDLR):c.680_682delinsCGGTATGGACTGCA (p.Asp227fs)
|
rs879254637
|
|
|
NM_000527.5(LDLR):c.680_692del (p.Asp227fs)
|
rs1057519660
|
|
|
NM_000527.5(LDLR):c.681C>A (p.Asp227Glu)
|
rs121908028
|
|
|
NM_000527.5(LDLR):c.681C>G (p.Asp227Glu)
|
rs121908028
|
|
|
NM_000527.5(LDLR):c.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.682G>C (p.Glu228Gln)
|
|
|
|
NM_000527.5(LDLR):c.682_683insGACAAATCTGAG (p.Glu228delinsGlyGlnIleTer)
|
rs879254641
|
|
|
NM_000527.5(LDLR):c.682del (p.Glu228fs)
|
rs879254640
|
|
|
NM_000527.5(LDLR):c.683A>C (p.Glu228Ala)
|
rs879254642
|
|
|
NM_000527.5(LDLR):c.683A>G (p.Glu228Gly)
|
rs879254642
|
|
|
NM_000527.5(LDLR):c.683_694del (p.Glu228_Cys231del)
|
rs1064792905
|
|
|
NM_000527.5(LDLR):c.683del (p.Glu228fs)
|
rs1555803481
|
|
|
NM_000527.5(LDLR):c.684G>C (p.Glu228Asp)
|
rs1208216597
|
|
|
NM_000527.5(LDLR):c.684G>T (p.Glu228Asp)
|
rs1208216597
|
|
|
NM_000527.5(LDLR):c.685G>T (p.Glu229Ter)
|
|
|
|
NM_000527.5(LDLR):c.691T>C (p.Cys231Arg)
|
rs746091400
|
|
|
NM_000527.5(LDLR):c.691T>G (p.Cys231Gly)
|
rs746091400
|
|
|
NM_000527.5(LDLR):c.692G>A (p.Cys231Tyr)
|
rs879254644
|
|
|
NM_000527.5(LDLR):c.693C>A (p.Cys231Ter)
|
|
|
|
NM_000527.5(LDLR):c.693C>G (p.Cys231Trp)
|
rs121908035
|
|
|
NM_000527.5(LDLR):c.693_694+20del
|
rs879254645
|
|
|
NM_000527.5(LDLR):c.694+1G>A
|
rs879254646
|
|
|
NM_000527.5(LDLR):c.694+1G>C
|
rs879254646
|
|
|
NM_000527.5(LDLR):c.694+1G>T
|
rs879254646
|
|
|
NM_000527.5(LDLR):c.694_695del (p.Ala232fs)
|
|
|
|
NM_000527.5(LDLR):c.695-1G>A
|
rs879254652
|
|
|
NM_000527.5(LDLR):c.695-1G>C
|
|
|
|
NM_000527.5(LDLR):c.695-1G>T
|
rs879254652
|
|
|
NM_000527.5(LDLR):c.695-356_940+1059del
|
|
|
|
NM_000527.5(LDLR):c.695-6_698del
|
rs879254651
|
|
|
NM_000527.5(LDLR):c.699_708del (p.Thr235fs)
|
rs2077297994
|
|
|
NM_000527.5(LDLR):c.6del (p.Trp4fs)
|
rs875989888
|
|
|
NM_000527.5(LDLR):c.702del (p.Thr235fs)
|
rs1555803641
|
|
|
NM_000527.5(LDLR):c.703dup (p.Thr235fs)
|
rs1555803643
|
|
|
NM_000527.5(LDLR):c.705dup (p.Cys236fs)
|
rs879254653
|
|
|
NM_000527.5(LDLR):c.706T>C (p.Cys236Arg)
|
rs879254655
|
|
|
NM_000527.5(LDLR):c.708dup (p.Arg237fs)
|
rs879254656
|
|
|
NM_000527.5(LDLR):c.70_192del (p.Gly24_Leu64del)
|
rs1555802242
|
|
|
NM_000527.5(LDLR):c.718G>T (p.Glu240Ter)
|
rs768563000
|
|
|
NM_000527.5(LDLR):c.722T>C (p.Phe241Ser)
|
rs748131256
|
|
|
NM_000527.5(LDLR):c.722T>G (p.Phe241Cys)
|
rs748131256
|
|
|
NM_000527.5(LDLR):c.724C>T (p.Gln242Ter)
|
rs879254658
|
|
|
NM_000527.5(LDLR):c.727T>A (p.Cys243Ser)
|
rs879254659
|
|
|
NM_000527.5(LDLR):c.727T>C (p.Cys243Arg)
|
rs879254659
|
|
|
NM_000527.5(LDLR):c.737G>T (p.Gly246Val)
|
rs879254661
|
|
|
NM_000527.5(LDLR):c.737del (p.Gly246fs)
|
rs879254660
|
|
|
NM_000527.5(LDLR):c.742T>G (p.Cys248Gly)
|
rs879254662
|
|
|
NM_000527.5(LDLR):c.743G>T (p.Cys248Phe)
|
rs879254663
|
|
|
NM_000527.5(LDLR):c.744C>A (p.Cys248Ter)
|
rs879254664
|
|
|
NM_000527.5(LDLR):c.752dup (p.Ser252fs)
|
rs879254666
|
|
|
NM_000527.5(LDLR):c.757C>T (p.Arg253Trp)
|
|
|
|
NM_000527.5(LDLR):c.760C>T (p.Gln254Ter)
|
rs759109699
|
|
|
NM_000527.5(LDLR):c.761A>C (p.Gln254Pro)
|
rs879254667
|
|
|
NM_000527.5(LDLR):c.762G>T (p.Gln254His)
|
rs764526789
|
|
|
NM_000527.5(LDLR):c.763T>A (p.Cys255Ser)
|
rs879254668
|
|
|
NM_000527.5(LDLR):c.763T>C (p.Cys255Arg)
|
rs879254668
|
|
|
NM_000527.5(LDLR):c.764G>T (p.Cys255Phe)
|
rs879254669
|
|
|
NM_000527.5(LDLR):c.767A>G (p.Asp256Gly)
|
rs879254670
|
|
|
NM_000527.5(LDLR):c.769C>T (p.Arg257Trp)
|
|
|
|
NM_000527.5(LDLR):c.76A>T (p.Arg26Ter)
|
rs879254398
|
|
|
NM_000527.5(LDLR):c.76del (p.Arg26fs)
|
rs879254399
|
|
|
NM_000527.5(LDLR):c.770G>C (p.Arg257Pro)
|
rs757808215
|
|
|
NM_000527.5(LDLR):c.776_777del (p.Glu258_Tyr259insTer)
|
rs879254673
|
|
|
NM_000527.5(LDLR):c.777T>G (p.Tyr259Ter)
|
rs2147228929
|
|
|
NM_000527.5(LDLR):c.779_782del (p.Asp260fs)
|
rs1600713742
|
|
|
NM_000527.5(LDLR):c.77_78del (p.Arg26fs)
|
rs879254400
|
|
|
NM_000527.5(LDLR):c.781del (p.Cys261fs)
|
rs879254674
|
|
|
NM_000527.5(LDLR):c.783C>A (p.Cys261Ter)
|
rs1057519663
|
|
|
NM_000527.5(LDLR):c.790_793del (p.Met264fs)
|
rs879254675
|
|
|
NM_000527.5(LDLR):c.791del (p.Met264fs)
|
rs2077300688
|
|
|
NM_000527.5(LDLR):c.796G>C (p.Asp266His)
|
|
|
|
NM_000527.5(LDLR):c.796G>T (p.Asp266Tyr)
|
rs875989907
|
|
|
NM_000527.5(LDLR):c.796_799del (p.Asp266fs)
|
rs879254677
|
|
|
NM_000527.5(LDLR):c.796_800del (p.Asp266fs)
|
rs1555803701
|
|
|
NM_000527.5(LDLR):c.799G>A (p.Glu267Lys)
|
rs879254679
|
|
|
NM_000527.5(LDLR):c.79T>C (p.Cys27Arg)
|
rs1555802245
|
|
|
NM_000527.5(LDLR):c.801A>T (p.Glu267Asp)
|
rs879254681
|
|
|
NM_000527.5(LDLR):c.805G>A (p.Gly269Ser)
|
rs1131692200
|
|
|
NM_000527.5(LDLR):c.805_813del (p.Gly269_Val271del)
|
|
|
|
NM_000527.5(LDLR):c.806G>A (p.Gly269Asp)
|
|
|
|
NM_000527.5(LDLR):c.808T>A (p.Cys270Ser)
|
rs879254682
|
|
|
NM_000527.5(LDLR):c.809G>A (p.Cys270Tyr)
|
rs879254683
|
|
|
NM_000527.5(LDLR):c.810C>A (p.Cys270Ter)
|
rs773328511
|
|
|
NM_000527.5(LDLR):c.814_817del (p.Val271_Asn272insTer)
|
rs879254684
|
|
|
NM_000527.5(LDLR):c.814_818del (p.Asn272fs)
|
|
|
|
NM_000527.5(LDLR):c.817+1G>A
|
rs879254685
|
|
|
NM_000527.5(LDLR):c.817+1G>T
|
rs879254685
|
|
|
NM_000527.5(LDLR):c.817+2T>G
|
rs879254686
|
|
|
NM_000527.5(LDLR):c.818-1G>A
|
rs879254688
|
|
|
NM_000527.5(LDLR):c.818-2A>G
|
|
|
|
NM_000527.5(LDLR):c.818-3C>G
|
rs886039831
|
|
|
NM_000527.5(LDLR):c.81C>A (p.Cys27Ter)
|
rs2228671
|
|
|
NM_000527.5(LDLR):c.81C>G (p.Cys27Trp)
|
|
|
|
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.826T>C (p.Cys276Arg)
|
rs879254692
|
|
|
NM_000527.5(LDLR):c.826T>G (p.Cys276Gly)
|
rs879254692
|
|
|
NM_000527.5(LDLR):c.827G>A (p.Cys276Tyr)
|
rs730882089
|
|
|
NM_000527.5(LDLR):c.828C>A (p.Cys276Ter)
|
rs146651743
|
|
|
NM_000527.5(LDLR):c.828C>G (p.Cys276Trp)
|
|
|
|
NM_000527.5(LDLR):c.829G>T (p.Glu277Ter)
|
rs148698650
|
|
|
NM_000527.5(LDLR):c.82G>T (p.Glu28Ter)
|
rs551747280
|
|
|
NM_000527.5(LDLR):c.832G>T (p.Gly278Ter)
|
rs1600715039
|
|
|
NM_000527.5(LDLR):c.839_848dup (p.Cys284fs)
|
rs1555803837
|
|
|
NM_000527.5(LDLR):c.840_841insT (p.Lys281Ter)
|
rs1555803841
|
|
|
NM_000527.5(LDLR):c.843_844insGGAC (p.Phe282fs)
|
rs2077311774
|
|
|
NM_000527.5(LDLR):c.850T>G (p.Cys284Gly)
|
rs879254693
|
|
|
NM_000527.5(LDLR):c.853C>T (p.His285Tyr)
|
|
|
|
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.85A>T (p.Arg29Ter)
|
rs879254401
|
|
|
NM_000527.5(LDLR):c.860del (p.Gly287fs)
|
rs1131692201
|
|
|
NM_000527.5(LDLR):c.862G>T (p.Glu288Ter)
|
|
|
|
NM_000527.5(LDLR):c.865del (p.Cys289fs)
|
rs879254696
|
|
|
NM_000527.5(LDLR):c.867C>A (p.Cys289Ter)
|
|
|
|
NM_000527.5(LDLR):c.86del (p.Arg29fs)
|
|
|
|
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.880A>G (p.Lys294Glu)
|
rs879254703
|
|
|
NM_000527.5(LDLR):c.881_882del (p.Lys294fs)
|
rs879254704
|
|
|
NM_000527.5(LDLR):c.882_883del (p.Lys294fs)
|
rs1131692202
|
|
|
NM_000527.5(LDLR):c.883del (p.Val295fs)
|
rs2077313046
|
|
|
NM_000527.5(LDLR):c.884del (p.Val295fs)
|
rs879254705
|
|
|
NM_000527.5(LDLR):c.886T>C (p.Cys296Arg)
|
rs1555803879
|
|
|
NM_000527.5(LDLR):c.887G>A (p.Cys296Tyr)
|
rs879254707
|
|
|
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.893dup (p.Met298fs)
|
|
|
|
NM_000527.5(LDLR):c.896del (p.Ala299fs)
|
rs879254712
|
|
|
NM_000527.5(LDLR):c.898A>T (p.Arg300Ter)
|
rs767618089
|
|
|
NM_000527.5(LDLR):c.901G>T (p.Asp301Tyr)
|
rs879254713
|
|
|
NM_000527.5(LDLR):c.901_911del (p.Asp301fs)
|
rs2077313770
|
|
|
NM_000527.5(LDLR):c.902A>G (p.Asp301Gly)
|
|
|
|
NM_000527.5(LDLR):c.902A>T (p.Asp301Val)
|
|
|
|
NM_000527.5(LDLR):c.904T>C (p.Cys302Arg)
|
rs1555803891
|
|
|
NM_000527.5(LDLR):c.905G>T (p.Cys302Phe)
|
rs879254715
|
|
|
NM_000527.5(LDLR):c.905del (p.Cys302fs)
|
rs1057516130
|
|
|
NM_000527.5(LDLR):c.906C>A (p.Cys302Ter)
|
|
|
|
NM_000527.5(LDLR):c.906C>G (p.Cys302Trp)
|
rs879254716
|
|
|
NM_000527.5(LDLR):c.908_926dup (p.Pro309_Ile310insGlyLeuValArgTer)
|
rs875989908
|
|
|
NM_000527.5(LDLR):c.90_91insTGTGTTT (p.Glu31delinsCysValTer)
|
rs1555802258
|
|
|
NM_000527.5(LDLR):c.910G>C (p.Asp304His)
|
rs121908030
|
|
|
NM_000527.5(LDLR):c.910G>T (p.Asp304Tyr)
|
rs121908030
|
|
|
NM_000527.5(LDLR):c.910del (p.Asp304fs)
|
rs2077314244
|
|
|
NM_000527.5(LDLR):c.911A>T (p.Asp304Val)
|
rs1555803898
|
|
|
NM_000527.5(LDLR):c.912C>G (p.Asp304Glu)
|
rs875989909
|
|
|
NM_000527.5(LDLR):c.914G>A (p.Trp305Ter)
|
rs879254717
|
|
|
NM_000527.5(LDLR):c.914G>C (p.Trp305Ser)
|
rs879254717
|
|
|
NM_000527.5(LDLR):c.915G>A (p.Trp305Ter)
|
rs757252110
|
|
|
NM_000527.5(LDLR):c.915G>C (p.Trp305Cys)
|
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.917C>T (p.Ser306Leu)
|
rs11547917
|
|
|
NM_000527.5(LDLR):c.919G>C (p.Asp307His)
|
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.920A>G (p.Asp307Gly)
|
rs1555803908
|
|
|
NM_000527.5(LDLR):c.921T>G (p.Asp307Glu)
|
rs879254720
|
|
|
NM_000527.5(LDLR):c.922G>A (p.Glu308Lys)
|
rs879254721
|
|
|
NM_000527.5(LDLR):c.922G>T (p.Glu308Ter)
|
rs879254721
|
|
|
NM_000527.5(LDLR):c.925_931del (p.Pro309fs)
|
rs387906304
|
|
|
NM_000527.5(LDLR):c.926C>A (p.Pro309His)
|
rs1600715567
|
|
|
NM_000527.5(LDLR):c.928dup (p.Ile310fs)
|
rs1555803912
|
|
|
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.932_939delinsGAGAGTGG (p.Lys311_Cys313delinsArgGluTrp)
|
rs1555803913
|
|
|
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.937T>C (p.Cys313Arg)
|
rs879254728
|
|
|
NM_000527.5(LDLR):c.937_938dup (p.Gly314fs)
|
|
|
|
NM_000527.5(LDLR):c.938_939delinsAT (p.Cys313Tyr)
|
rs875989910
|
|
|
NM_000527.5(LDLR):c.939C>A (p.Cys313Ter)
|
rs13306512
|
|
|
NM_000527.5(LDLR):c.939C>G (p.Cys313Trp)
|
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.940+1G>C
|
rs879254729
|
|
|
NM_000527.5(LDLR):c.940+1G>T
|
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>C
|
rs875989912
|
|
|
NM_000527.5(LDLR):c.940+2T>G
|
rs875989912
|
|
|
NM_000527.5(LDLR):c.940+3_940+6del
|
rs2077315885
|
|
|
NM_000527.5(LDLR):c.940_940+14del
|
rs1057519665
|
|
|
NM_000527.5(LDLR):c.941-12G>A
|
rs879254734
|
|
|
NM_000527.5(LDLR):c.941-1G>A
|
rs879254735
|
|
|
NM_000527.5(LDLR):c.941-2A>C
|
rs112366278
|
|
|
NM_000527.5(LDLR):c.941-2A>G
|
rs112366278
|
|
|
NM_000527.5(LDLR):c.946_994del (p.Asn316fs)
|
rs879254736
|
|
|
NM_000527.5(LDLR):c.948del (p.Asn316fs)
|
rs1555804443
|
|
|
NM_000527.5(LDLR):c.949G>T (p.Glu317Ter)
|
rs746834464
|
|
|
NM_000527.5(LDLR):c.949dup (p.Glu317fs)
|
|
|
|
NM_000527.5(LDLR):c.951del (p.Glu317fs)
|
rs879254737
|
|
|
NM_000527.5(LDLR):c.952T>C (p.Cys318Arg)
|
rs879254738
|
|
|
NM_000527.5(LDLR):c.953G>T (p.Cys318Phe)
|
|
|
|
NM_000527.5(LDLR):c.954C>A (p.Cys318Ter)
|
rs1323416354
|
|
|
NM_000527.5(LDLR):c.95T>G (p.Phe32Cys)
|
rs879254403
|
|
|
NM_000527.5(LDLR):c.961AAC[1] (p.Asn322del)
|
|
|
|
NM_000527.5(LDLR):c.961_962del (p.Asn321fs)
|
rs879254740
|
|
|
NM_000527.5(LDLR):c.965A>T (p.Asn322Ile)
|
rs879254742
|
|
|
NM_000527.5(LDLR):c.966del (p.Asn322fs)
|
rs2077361078
|
|
|
NM_000527.5(LDLR):c.967G>T (p.Gly323Cys)
|
rs373869746
|
|
|
NM_000527.5(LDLR):c.968del (p.Gly323fs)
|
rs879254743
|
|
|
NM_000527.5(LDLR):c.969del (p.Gly324fs)
|
rs879254744
|
|
|
NM_000527.5(LDLR):c.970G>A (p.Gly324Ser)
|
|
|
|
NM_000527.5(LDLR):c.971del (p.Gly324fs)
|
rs879254745
|
|
|
NM_000527.5(LDLR):c.974G>A (p.Cys325Tyr)
|
rs879254746
|
|
|
NM_000527.5(LDLR):c.975_986del (p.Ser326_Cys329del)
|
rs2077361365
|
|
|
NM_000527.5(LDLR):c.977C>G (p.Ser326Cys)
|
|
|
|
NM_000527.5(LDLR):c.979del (p.His327fs)
|
rs2077361581
|
|
|
NM_000527.5(LDLR):c.97C>T (p.Gln33Ter)
|
|
|
|
NM_000527.5(LDLR):c.97_115del (p.Gln33fs)
|
rs2147210191
|
|
|
NM_000527.5(LDLR):c.980dup (p.His327fs)
|
rs879254748
|
|
|
NM_000527.5(LDLR):c.985T>C (p.Cys329Arg)
|
rs879254749
|
|
|
NM_000527.5(LDLR):c.985T>G (p.Cys329Gly)
|
rs879254749
|
|
|
NM_000527.5(LDLR):c.987C>A (p.Cys329Ter)
|
rs1555804467
|
|
|
NM_000527.5(LDLR):c.996_1009delinsGCA (p.Lys333fs)
|
rs1568600415
|
|
|
NM_000527.5(LDLR):c.99del (p.Gln33fs)
|
rs879254404
|
|
|
NM_000527.5(LDLR):c.9del (p.Trp4fs)
|
rs879254384
|
|
|
NM_000527.5:c.(190+1_191-1)_(817+1_818-1)dup
|
|
|
|
NM_000527.5:c.(67+1_68-1)_(1845+1_1846-1)del
|
|
|
|
Single allele
|
|
|
|
c.(1060+1_1061-1)_(1186+1_1187-1)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
|
|
|