NM_002335.4(LRP5):c.3245A>G (p.Tyr1082Cys)
|
rs113804402
|
0.00011
|
NM_002335.4(LRP5):c.1225A>G (p.Thr409Ala)
|
rs1273567061
|
0.00002
|
NM_002335.4(LRP5):c.1275G>A (p.Trp425Ter)
|
rs2098643187
|
0.00001
|
NM_002335.4(LRP5):c.1300G>A (p.Asp434Asn)
|
rs757888034
|
0.00001
|
NM_002335.4(LRP5):c.1321G>A (p.Glu441Lys)
|
rs376152274
|
0.00001
|
NM_002335.4(LRP5):c.1330C>T (p.Arg444Cys)
|
rs80358308
|
0.00001
|
NM_002335.4(LRP5):c.1709G>A (p.Arg570Gln)
|
rs80358312
|
0.00001
|
NM_002335.4(LRP5):c.2555C>T (p.Thr852Met)
|
rs1398692057
|
0.00001
|
NM_002335.4(LRP5):c.2737dup (p.Cys913fs)
|
rs886043590
|
0.00001
|
NM_002335.4(LRP5):c.3122C>T (p.Thr1041Met)
|
rs1311935185
|
0.00001
|
NM_002335.4(LRP5):c.3834G>A (p.Trp1278Ter)
|
rs2098673217
|
0.00001
|
NM_002335.4(LRP5):c.4087G>A (p.Asp1363Asn)
|
rs756378949
|
0.00001
|
NM_002335.4(LRP5):c.442C>T (p.Gln148Ter)
|
rs1396340484
|
0.00001
|
NC_000011.10:g.68403494_68403495insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCAGGTGATCAATGTT
|
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NC_000011.9:g.(?_68080183)_(68080293_?)del
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|
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NC_000011.9:g.(?_68131195)_(68131431_?)del
|
|
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NC_000011.9:g.(?_68153764)_(68157540_?)del
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NC_000011.9:g.(?_68170931)_(68171187_?)del
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NC_000011.9:g.(?_68207225)_(68207404_?)del
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|
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NM_002335.4(LRP5):c.1057C>T (p.Arg353Trp)
|
|
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NM_002335.4(LRP5):c.1058G>A (p.Arg353Gln)
|
rs2153153067
|
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NM_002335.4(LRP5):c.1064del (p.Ile355fs)
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|
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NM_002335.4(LRP5):c.1145C>T (p.Pro382Leu)
|
rs397514664
|
|
NM_002335.4(LRP5):c.1199C>A (p.Ala400Glu)
|
rs201320326
|
|
NM_002335.4(LRP5):c.1203C>A (p.Tyr401Ter)
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|
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NM_002335.4(LRP5):c.1282C>T (p.Arg428Ter)
|
rs121908661
|
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NM_002335.4(LRP5):c.1372del (p.Leu458fs)
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|
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NM_002335.4(LRP5):c.1375del (p.Asp459fs)
|
rs2153153322
|
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NM_002335.4(LRP5):c.1384C>T (p.Arg462Ter)
|
rs1200833757
|
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NM_002335.4(LRP5):c.1412+1G>A
|
rs2098643283
|
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NM_002335.4(LRP5):c.1474C>T (p.Gln492Ter)
|
|
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NM_002335.4(LRP5):c.1481G>A (p.Arg494Gln)
|
rs121908664
|
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NM_002335.4(LRP5):c.1564G>A (p.Ala522Thr)
|
rs80358309
|
|
NM_002335.4(LRP5):c.1585-2A>C
|
|
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NM_002335.4(LRP5):c.1655C>T (p.Thr552Met)
|
rs397514663
|
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NM_002335.4(LRP5):c.1708C>T (p.Arg570Trp)
|
rs121908665
|
|
NM_002335.4(LRP5):c.1828G>A (p.Gly610Arg)
|
rs80358313
|
|
NM_002335.4(LRP5):c.1833dup (p.Cys612fs)
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|
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NM_002335.4(LRP5):c.185del (p.Leu62fs)
|
rs1555072861
|
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NM_002335.4(LRP5):c.1861dup (p.His621fs)
|
rs1303970751
|
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NM_002335.4(LRP5):c.1870del (p.Arg624fs)
|
|
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NM_002335.4(LRP5):c.1A>G (p.Met1Val)
|
rs2153110162
|
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NM_002335.4(LRP5):c.1A>T (p.Met1Leu)
|
|
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NM_002335.4(LRP5):c.204_213del (p.Asp69fs)
|
rs1234997874
|
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NM_002335.4(LRP5):c.209_210delinsAA (p.Phe70Ter)
|
rs2098614719
|
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NM_002335.4(LRP5):c.2132_2133dup (p.Val712fs)
|
rs1554971069
|
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NM_002335.4(LRP5):c.2247del (p.Gln750fs)
|
rs2153166468
|
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NM_002335.4(LRP5):c.2254C>G (p.Arg752Gly)
|
rs121908674
|
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NM_002335.4(LRP5):c.2254C>T (p.Arg752Trp)
|
rs121908674
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NM_002335.4(LRP5):c.2270G>A (p.Trp757Ter)
|
rs2153166493
|
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NM_002335.4(LRP5):c.2543C>T (p.Pro848Leu)
|
rs1281959115
|
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NM_002335.4(LRP5):c.2647C>T (p.Gln883Ter)
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|
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NM_002335.4(LRP5):c.2672dup (p.Asp891fs)
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|
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NM_002335.4(LRP5):c.270del (p.Tyr91fs)
|
rs2153129468
|
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NM_002335.4(LRP5):c.2718_2721del (p.Met907fs)
|
rs1244761864
|
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NM_002335.4(LRP5):c.2754dup (p.Ala919fs)
|
rs2153168193
|
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NM_002335.4(LRP5):c.2827+1G>A
|
rs1565092365
|
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NM_002335.4(LRP5):c.2831_2832dup (p.Thr945fs)
|
rs2153169246
|
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NM_002335.4(LRP5):c.3002dup (p.Arg1002fs)
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|
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NM_002335.4(LRP5):c.3004C>T (p.Arg1002Ter)
|
|
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NM_002335.4(LRP5):c.3202A>T (p.Lys1068Ter)
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|
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NM_002335.4(LRP5):c.322del (p.Val108fs)
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|
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NM_002335.4(LRP5):c.3232C>T (p.Arg1078Ter)
|
rs765402802
|
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NM_002335.4(LRP5):c.3236+2T>G
|
rs1460396716
|
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NM_002335.4(LRP5):c.3280G>T (p.Glu1094Ter)
|
|
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NM_002335.4(LRP5):c.3344_3345dup (p.Ala1116fs)
|
rs2153173930
|
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NM_002335.4(LRP5):c.3432del (p.Asn1145fs)
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|
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NM_002335.4(LRP5):c.346dup (p.Asp116fs)
|
rs2153129564
|
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NM_002335.4(LRP5):c.3742C>T (p.Gln1248Ter)
|
rs1186877944
|
|
NM_002335.4(LRP5):c.3761del (p.Gly1254fs)
|
|
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NM_002335.4(LRP5):c.3768_3819dup (p.Ile1274fs)
|
rs1565111276
|
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NM_002335.4(LRP5):c.381_382insCC (p.Glu128fs)
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|
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NM_002335.4(LRP5):c.4057C>T (p.Gln1353Ter)
|
rs1554977547
|
|
NM_002335.4(LRP5):c.4087G>C (p.Asp1363His)
|
|
|
NM_002335.4(LRP5):c.4105_4106del (p.Met1369fs)
|
|
|
NM_002335.4(LRP5):c.4142_4158del (p.Pro1381fs)
|
|
|
NM_002335.4(LRP5):c.4142del (p.Pro1381fs)
|
rs2153181207
|
|
NM_002335.4(LRP5):c.4189_4192del (p.Leu1397fs)
|
rs2098676296
|
|
NM_002335.4(LRP5):c.4263del (p.Phe1422fs)
|
|
|
NM_002335.4(LRP5):c.4349-1G>A
|
rs2098677103
|
|
NM_002335.4(LRP5):c.434del (p.Leu145fs)
|
|
|
NM_002335.4(LRP5):c.4452del (p.Ser1484fs)
|
rs2098677212
|
|
NM_002335.4(LRP5):c.4453_4482del (p.Ser1485_Tyr1494del)
|
rs2098677216
|
|
NM_002335.4(LRP5):c.4482C>A (p.Tyr1494Ter)
|
|
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NM_002335.4(LRP5):c.4488+2T>G
|
rs80358322
|
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NM_002335.4(LRP5):c.4488+2_4488+17del
|
rs2153182108
|
|
NM_002335.4(LRP5):c.4670G>A (p.Trp1557Ter)
|
rs2153185865
|
|
NM_002335.4(LRP5):c.4781_4797del (p.Pro1594fs)
|
rs2153185913
|
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NM_002335.4(LRP5):c.47_75del (p.Leu16fs)
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|
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NM_002335.4(LRP5):c.480dup (p.Ala161fs)
|
rs1057519126
|
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NM_002335.4(LRP5):c.512G>T (p.Gly171Val)
|
rs121908668
|
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NM_002335.4(LRP5):c.593A>G (p.Asn198Ser)
|
rs1085307078
|
|
NM_002335.4(LRP5):c.632G>A (p.Trp211Ter)
|
rs2153136142
|
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NM_002335.4(LRP5):c.724G>A (p.Ala242Thr)
|
rs121908670
|
|
NM_002335.4(LRP5):c.772del (p.Arg258fs)
|
rs2153139453
|
|
NM_002335.4(LRP5):c.840dup (p.Pro281fs)
|
rs1555077255
|
|
NM_002335.4(LRP5):c.865C>T (p.Gln289Ter)
|
rs771082674
|
|
NM_002335.4(LRP5):c.935del (p.Leu312fs)
|
|
|
NM_002335.4(LRP5):c.961T>C (p.Cys321Arg)
|
|
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NM_002335.4(LRP5):c.964del (p.Ala322fs)
|
|
|
NM_002335.4(LRP5):c.999_1005dup (p.Cys336fs)
|
rs2153140607
|
|