NM_001077365.2(POMT1):c.*226T>C
|
rs3824395
|
0.88255
|
NM_001077365.2(POMT1):c.*41T>C
|
rs3739495
|
0.88174
|
NM_001077365.2(POMT1):c.*278T>C
|
rs10793885
|
0.88104
|
NM_001077365.2(POMT1):c.*348C>T
|
rs7857419
|
0.87122
|
NM_001077365.2(POMT1):c.2003+13C>T
|
rs4740165
|
0.84044
|
NM_013382.7(POMT2):c.*1742G>A
|
rs12894594
|
0.83615
|
NM_013382.7(POMT2):c.*1501G>A
|
rs4141640
|
0.83310
|
NM_003863.4(DPM2):c.213T>C (p.Tyr71=)
|
rs6781
|
0.80380
|
NM_003863.3(DPM2):c.-152A>G
|
rs6478802
|
0.79362
|
NM_003863.3(DPM2):c.-628A>G
|
rs3758327
|
0.79360
|
NM_003863.4(DPM2):c.227C>G (p.Thr76Ser)
|
rs7997
|
0.79357
|
NM_001077365.2(POMT1):c.*453T>C
|
rs11005
|
0.70594
|
NM_005198.5(CHKB):c.333+10G>T
|
rs86337
|
0.59693
|
NM_013382.7(POMT2):c.*1137G>A
|
rs7158951
|
0.56341
|
NM_013382.7(POMT2):c.*790G>A
|
rs7159558
|
0.56247
|
NM_013382.7(POMT2):c.*1058G>A
|
rs11624564
|
0.41162
|
NM_013382.7(POMT2):c.*1967C>T
|
rs11547794
|
0.41103
|
NM_013382.7(POMT2):c.*1974G>A
|
rs11159254
|
0.41096
|
NM_133642.5(LARGE1):c.435C>T (p.Ala145=)
|
rs86487
|
0.39804
|
NM_017739.4(POMGNT1):c.681A>G (p.Lys227=)
|
rs2292487
|
0.34915
|
NM_133642.5(LARGE1):c.-177C>T
|
rs3210587
|
0.29884
|
NM_001079802.2(FKTN):c.1026C>A (p.Leu342=)
|
rs17309806
|
0.27837
|
NM_001079802.2(FKTN):c.-158G>C
|
rs4742953
|
0.27121
|
NM_001079802.2(FKTN):c.608G>A (p.Arg203Gln)
|
rs34787999
|
0.25357
|
NM_013382.7(POMT2):c.-64G>A
|
rs2270421
|
0.24706
|
NM_170707.4(LMNA):c.1338T>C (p.Asp446=)
|
rs505058
|
0.23806
|
NM_013382.7(POMT2):c.*2325A>G
|
rs11547793
|
0.22179
|
NM_170707.4(LMNA):c.1698C>T (p.His566=)
|
rs4641
|
0.20715
|
NM_013382.7(POMT2):c.*75C>T
|
rs1055592
|
0.20469
|
NM_170707.4(LMNA):c.861T>C (p.Ala287=)
|
rs538089
|
0.18331
|
NM_013382.7(POMT2):c.*1516A>G
|
rs45518539
|
0.14946
|
NM_013382.7(POMT2):c.*587G>A
|
rs10141995
|
0.14409
|
NM_013382.7(POMT2):c.1654-6A>G
|
rs4540995
|
0.14330
|
NM_001079802.2(FKTN):c.*5618T>A
|
rs1048215
|
0.12282
|
NM_001079802.2(FKTN):c.*786T>G
|
rs10978177
|
0.12279
|
NM_001077365.2(POMT1):c.699+52C>T
|
rs3887873
|
0.12205
|
NM_001079802.2(FKTN):c.*1133A>G
|
rs2768282
|
0.12157
|
NM_001079802.2(FKTN):c.*2280T>C
|
rs1024366
|
0.12115
|
NM_001079802.2(FKTN):c.*5260G>T
|
rs2010861
|
0.11975
|
NM_001077365.2(POMT1):c.*421G>A
|
rs10257
|
0.11588
|
NM_001079802.2(FKTN):c.*5041G>A
|
rs1854124
|
0.11478
|
NM_013382.7(POMT2):c.*1748C>A
|
rs45458096
|
0.11420
|
NM_005198.5(CHKB):c.*134T>C
|
rs1056964
|
0.09639
|
NM_005198.5(CHKB):c.*216C>G
|
rs3180872
|
0.09626
|
NM_133642.5(LARGE1):c.-63C>T
|
rs16992986
|
0.09348
|
NM_133642.5(LARGE1):c.*921C>G
|
rs16992034
|
0.07871
|
NM_001079802.2(FKTN):c.*5062G>A
|
rs1854125
|
0.07482
|
NM_133642.5(LARGE1):c.-397C>G
|
rs114106875
|
0.07319
|
NM_013382.7(POMT2):c.-124G>A
|
rs147337187
|
0.06001
|
NM_013382.7(POMT2):c.162G>T (p.Ala54=)
|
rs2270420
|
0.05519
|
NM_170707.4(LMNA):c.810+13G>T
|
rs11264444
|
0.05317
|
NM_133642.5(LARGE1):c.2100C>T (p.Asn700=)
|
rs17722172
|
0.04733
|
NM_001077365.2(POMT1):c.913G>A (p.Val305Ile)
|
rs4740164
|
0.04243
|
NM_001077365.2(POMT1):c.1233C>A (p.Asp411Glu)
|
rs11243406
|
0.04069
|
NM_013382.7(POMT2):c.-128C>T
|
rs116224770
|
0.03577
|
NM_133642.5(LARGE1):c.*154C>A
|
rs73399512
|
0.03456
|
NM_133642.5(LARGE1):c.*856G>A
|
rs77663505
|
0.03428
|
NM_001079802.2(FKTN):c.373G>A (p.Gly125Ser)
|
rs34006675
|
0.03359
|
NM_133642.5(LARGE1):c.*207G>A
|
rs16992036
|
0.03294
|
NM_013382.7(POMT2):c.161C>A (p.Ala54Glu)
|
rs8177536
|
0.03119
|
NM_005198.5(CHKB):c.*96G>C
|
rs17001634
|
0.03056
|
NM_001079802.2(FKTN):c.*3778T>C
|
rs79831528
|
0.02904
|
NM_133642.5(LARGE1):c.1548C>T (p.Tyr516=)
|
rs34292743
|
0.02604
|
NM_133642.5(LARGE1):c.576C>T (p.Pro192=)
|
rs36002910
|
0.02334
|
NM_001077365.2(POMT1):c.1692G>A (p.Arg564=)
|
rs34954751
|
0.02208
|
NM_133642.5(LARGE1):c.*740A>G
|
rs116335813
|
0.02207
|
NM_133642.5(LARGE1):c.1827A>G (p.Ser609=)
|
rs11913417
|
0.02196
|
NM_001079802.2(FKTN):c.166C>T (p.Arg56Cys)
|
rs41277797
|
0.02093
|
NM_001077365.2(POMT1):c.1275A>G (p.Glu425=)
|
rs62620174
|
0.02004
|
NM_013382.7(POMT2):c.*1087C>T
|
rs59725094
|
0.01993
|
NM_001077365.2(POMT1):c.*529G>A
|
rs116005066
|
0.01991
|
NM_133642.5(LARGE1):c.309C>T (p.Ser103=)
|
rs59349720
|
0.01920
|
NM_013382.7(POMT2):c.*1337C>T
|
rs45561437
|
0.01861
|
NM_133642.5(LARGE1):c.1949G>A (p.Arg650Gln)
|
rs73399520
|
0.01853
|
NM_005198.5(CHKB):c.216C>T (p.Tyr72=)
|
rs80067609
|
0.01782
|
NM_001077365.2(POMT1):c.1856C>T (p.Ala619Val)
|
rs12115566
|
0.01621
|
NM_001079802.2(FKTN):c.*4825T>C
|
rs115155934
|
0.01517
|
NM_001079802.2(FKTN):c.*2298C>G
|
rs116107812
|
0.01491
|
NM_133642.5(LARGE1):c.165G>C (p.Thr55=)
|
rs63446460
|
0.01465
|
NM_013382.7(POMT2):c.-56G>A
|
rs567281401
|
0.01276
|
NM_003863.3(DPM2):c.-382C>T
|
rs112813338
|
0.01257
|
NM_001079802.2(FKTN):c.*5517T>C
|
rs114655654
|
0.01215
|
NM_001079802.2(FKTN):c.*818C>T
|
rs79162268
|
0.01167
|
NM_133642.5(LARGE1):c.-149G>C
|
rs143403352
|
0.01106
|
NM_017739.4(POMGNT1):c.1257G>A (p.Leu419=)
|
rs41292143
|
0.01062
|
NM_001077365.2(POMT1):c.1479C>T (p.Tyr493=)
|
rs62636653
|
0.01037
|
NM_003863.4(DPM2):c.183G>A (p.Leu61=)
|
rs11552794
|
0.01027
|
NM_001077365.2(POMT1):c.1125C>T (p.His375=)
|
rs35242383
|
0.01019
|
NM_017739.4(POMGNT1):c.1666G>A (p.Asp556Asn)
|
rs74374973
|
0.00994
|
NM_001077365.2(POMT1):c.2137C>T (p.Arg713Cys)
|
rs147266709
|
0.00982
|
NM_001077365.2(POMT1):c.78G>A (p.Gly26=)
|
rs149554732
|
0.00980
|
NM_001079802.2(FKTN):c.*1638A>G
|
rs78462952
|
0.00980
|
NM_001077365.2(POMT1):c.*338T>G
|
rs193003183
|
0.00971
|
NM_003863.4(DPM2):c.177C>T (p.Leu59=)
|
rs35334863
|
0.00922
|
NM_133642.5(LARGE1):c.552G>A (p.Thr184=)
|
rs8142483
|
0.00887
|
NM_001077365.2(POMT1):c.-6T>G
|
rs62620173
|
0.00840
|
NM_133642.5(LARGE1):c.*1201A>G
|
rs11544101
|
0.00840
|
NM_005198.4(CHKB):c.-97G>C
|
rs114094125
|
0.00832
|
NM_133642.5(LARGE1):c.-83+63217G>C
|
rs114574565
|
0.00831
|
NM_013382.7(POMT2):c.*2091G>T
|
rs139493728
|
0.00821
|
NM_001077365.2(POMT1):c.1826-6C>A
|
rs140258585
|
0.00816
|
NM_001077365.2(POMT1):c.1826-7C>A
|
rs148180760
|
0.00816
|
NM_013382.7(POMT2):c.*1756C>T
|
rs148688355
|
0.00815
|
NM_001079802.2(FKTN):c.*4491T>C
|
rs41316524
|
0.00811
|
NM_001079802.2(FKTN):c.1336A>G (p.Asn446Asp)
|
rs41313301
|
0.00809
|
NM_001079802.2(FKTN):c.166-6A>G
|
rs41277795
|
0.00808
|
NM_001079802.2(FKTN):c.910+14G>A
|
rs76180538
|
0.00806
|
NM_170707.4(LMNA):c.51C>T (p.Ser17=)
|
rs11549668
|
0.00797
|
NM_001079802.2(FKTN):c.*5578G>A
|
rs41277801
|
0.00776
|
NM_001079802.2(FKTN):c.*1229A>G
|
rs116549376
|
0.00711
|
NM_133642.5(LARGE1):c.-31G>A
|
rs117199378
|
0.00694
|
NM_001079802.2(FKTN):c.*2213A>G
|
rs141298287
|
0.00678
|
NM_005198.5(CHKB):c.-48G>T
|
rs41282357
|
0.00660
|
NM_013382.7(POMT2):c.2175C>T (p.Tyr725=)
|
rs116434191
|
0.00658
|
NM_170707.4(LMNA):c.612G>A (p.Leu204=)
|
rs12117552
|
0.00637
|
NM_133642.5(LARGE1):c.1994G>A (p.Arg665His)
|
rs1046166
|
0.00617
|
NM_001077365.2(POMT1):c.891G>A (p.Leu297=)
|
rs76109289
|
0.00616
|
NM_001077365.2(POMT1):c.*206A>G
|
rs111470256
|
0.00610
|
NM_133642.5(LARGE1):c.*1235A>G
|
rs1801820
|
0.00578
|
NM_013382.7(POMT2):c.652G>A (p.Asp218Asn)
|
rs140785104
|
0.00496
|
NM_017739.4(POMGNT1):c.-11G>A
|
rs80107141
|
0.00484
|
NM_005198.5(CHKB):c.*208T>G
|
rs41281533
|
0.00481
|
NM_001079802.2(FKTN):c.*2427G>T
|
rs116364105
|
0.00472
|
NM_017739.4(POMGNT1):c.120+13C>T
|
rs12737140
|
0.00459
|
NM_133642.5(LARGE1):c.163A>G (p.Thr55Ala)
|
rs34642406
|
0.00430
|
NM_001077365.2(POMT1):c.2060C>T (p.Ala687Val)
|
rs138171526
|
0.00378
|
NM_017739.4(POMGNT1):c.*221G>A
|
rs181362801
|
0.00374
|
NM_017739.4(POMGNT1):c.*451C>T
|
rs148903585
|
0.00364
|
NM_001077365.2(POMT1):c.1585-14C>T
|
rs78529026
|
0.00332
|
NM_133642.5(LARGE1):c.-399A>T
|
rs535216289
|
0.00327
|
NM_001077365.2(POMT1):c.1698C>T (p.Ser566=)
|
rs150814269
|
0.00324
|
NM_170707.4(LMNA):c.357C>T (p.Arg119=)
|
rs41313880
|
0.00321
|
NM_005198.5(CHKB):c.983A>G (p.Gln328Arg)
|
rs141381896
|
0.00317
|
NM_170707.4(LMNA):c.811-13T>A
|
rs80356809
|
0.00309
|
NM_001079802.2(FKTN):c.*2265T>C
|
rs76003803
|
0.00304
|
NM_001079802.2(FKTN):c.*3861T>C
|
rs185745657
|
0.00292
|
NM_005572.3(LMNA):c.-223C>T
|
rs188625872
|
0.00284
|
NM_017739.4(POMGNT1):c.1298C>T (p.Thr433Met)
|
rs146097254
|
0.00280
|
NM_013382.7(POMT2):c.*176C>T
|
rs143803905
|
0.00265
|
NM_001077365.2(POMT1):c.1126G>A (p.Gly376Arg)
|
rs146869947
|
0.00264
|
NM_017739.4(POMGNT1):c.1510G>A (p.Val504Ile)
|
rs17102066
|
0.00264
|
NM_001077365.2(POMT1):c.*635T>G
|
rs112845474
|
0.00260
|
NM_017739.4(POMGNT1):c.301G>A (p.Val101Ile)
|
rs150576537
|
0.00250
|
NM_001077365.2(POMT1):c.*25C>T
|
rs115818625
|
0.00230
|
NM_001079802.2(FKTN):c.1297A>G (p.Thr433Ala)
|
rs141918432
|
0.00228
|
NM_133642.5(LARGE1):c.1788G>A (p.Ala596=)
|
rs74550830
|
0.00224
|
NM_001077365.2(POMT1):c.1416C>T (p.Val472=)
|
rs139687326
|
0.00222
|
NM_001079802.2(FKTN):c.*2592T>C
|
rs538086095
|
0.00220
|
NM_001079802.2(FKTN):c.167G>A (p.Arg56His)
|
rs146951171
|
0.00218
|
NM_133642.5(LARGE1):c.-83+63202T>G
|
rs147343461
|
0.00215
|
NM_001079802.2(FKTN):c.-88-6T>C
|
rs115730708
|
0.00212
|
NM_013382.7(POMT2):c.1332+13C>T
|
rs142916824
|
0.00211
|
NM_001079802.2(FKTN):c.*1018T>A
|
rs16924759
|
0.00204
|
NM_001079802.2(FKTN):c.-96T>C
|
rs151250905
|
0.00201
|
NM_017739.4(POMGNT1):c.236-13T>C
|
rs150578902
|
0.00196
|
NM_005198.5(CHKB):c.249C>T (p.Phe83=)
|
rs180979987
|
0.00176
|
NM_133642.5(LARGE1):c.1644C>T (p.Asn548=)
|
rs113253213
|
0.00174
|
NM_013382.7(POMT2):c.*606G>A
|
rs141262145
|
0.00173
|
NM_001077365.2(POMT1):c.1499G>A (p.Arg500Lys)
|
rs117985576
|
0.00169
|
NM_005198.5(CHKB):c.149A>G (p.Tyr50Cys)
|
rs138205828
|
0.00169
|
NM_001079802.2(FKTN):c.*3460G>A
|
rs539474742
|
0.00168
|
NM_001079802.2(FKTN):c.*3918A>G
|
rs17316607
|
0.00167
|
NM_001077365.2(POMT1):c.2115G>A (p.Ser705=)
|
rs76092524
|
0.00166
|
NM_013382.7(POMT2):c.1881G>A (p.Ala627=)
|
rs146588608
|
0.00158
|
NM_013382.7(POMT2):c.1683T>C (p.Asn561=)
|
rs146307965
|
0.00148
|
NM_133642.5(LARGE1):c.-480C>T
|
rs886057469
|
0.00148
|
NM_133642.5(LARGE1):c.1008T>C (p.Asp336=)
|
rs115076367
|
0.00140
|
NM_005198.5(CHKB):c.457T>C (p.Leu153=)
|
rs146693439
|
0.00138
|
NM_133642.5(LARGE1):c.-455G>A
|
rs532736408
|
0.00134
|
NM_007171.3(POMT1):c.*694G>A
|
rs550900373
|
0.00133
|
NM_133642.5(LARGE1):c.*100C>A
|
rs567278765
|
0.00131
|
NM_001077365.2(POMT1):c.-168G>C
|
rs556267289
|
0.00127
|
NM_001079802.2(FKTN):c.166-4A>G
|
rs193922689
|
0.00125
|
NM_170707.4(LMNA):c.1566C>T (p.Cys522=)
|
rs149339264
|
0.00123
|
NM_133642.5(LARGE1):c.1420G>A (p.Val474Ile)
|
rs150861748
|
0.00119
|
NM_001077365.2(POMT1):c.1486+14G>A
|
rs142995404
|
0.00118
|
NM_013382.7(POMT2):c.*1603C>T
|
rs139267307
|
0.00111
|
NM_133642.5(LARGE1):c.-481G>T
|
rs537756491
|
0.00109
|
NM_013382.7(POMT2):c.*2072C>T
|
rs558857629
|
0.00107
|
NM_133642.5(LARGE1):c.1092C>T (p.Thr364=)
|
rs144216539
|
0.00100
|
NM_133642.5(LARGE1):c.-271G>A
|
rs185068235
|
0.00093
|
NM_001077365.2(POMT1):c.*182T>C
|
rs535816758
|
0.00091
|
NM_005198.5(CHKB):c.670A>C (p.Asn224His)
|
rs149858290
|
0.00088
|
NM_001079802.2(FKTN):c.681G>A (p.Leu227=)
|
rs142604625
|
0.00084
|
NM_013382.7(POMT2):c.*758G>A
|
rs371632843
|
0.00083
|
NM_001077365.2(POMT1):c.986+9A>G
|
rs202095070
|
0.00077
|
NM_003863.3(DPM2):c.-587C>T
|
rs566910080
|
0.00077
|
NM_017739.4(POMGNT1):c.*34G>A
|
rs200540049
|
0.00076
|
NM_001077365.2(POMT1):c.2178G>A (p.Ter726=)
|
rs147143094
|
0.00071
|
NM_133642.5(LARGE1):c.1962G>A (p.Glu654=)
|
rs141089495
|
0.00070
|
NM_001079802.2(FKTN):c.*1010G>A
|
rs144159266
|
0.00068
|
NM_013382.7(POMT2):c.-142C>T
|
rs886050827
|
0.00068
|
NM_003863.3(DPM2):c.-429G>T
|
rs192275912
|
0.00064
|
NM_001079802.2(FKTN):c.*712C>T
|
rs535353095
|
0.00062
|
NM_013382.7(POMT2):c.1701C>G (p.Pro567=)
|
rs151051452
|
0.00062
|
NM_003863.3(DPM2):c.*627C>T
|
rs544907409
|
0.00061
|
NM_133642.5(LARGE1):c.-194G>A
|
rs530725597
|
0.00059
|
NM_001079802.2(FKTN):c.-77A>G
|
rs188804693
|
0.00057
|
NM_133642.5(LARGE1):c.211G>A (p.Glu71Lys)
|
rs116164106
|
0.00057
|
NM_013382.7(POMT2):c.1537A>G (p.Asn513Asp)
|
rs117173425
|
0.00056
|
NM_001079802.2(FKTN):c.*100G>A
|
rs542491025
|
0.00055
|
NM_001079802.2(FKTN):c.1159G>A (p.Gly387Arg)
|
rs148975262
|
0.00051
|
NM_170707.4(LMNA):c.-128T>C
|
rs80356803
|
0.00051
|
NM_017739.4(POMGNT1):c.421-7C>A
|
rs189274856
|
0.00049
|
NM_001077365.2(POMT1):c.1365+15C>T
|
rs58896330
|
0.00045
|
NM_013382.7(POMT2):c.1404A>G (p.Lys468=)
|
rs150491326
|
0.00043
|
NM_001079802.2(FKTN):c.*2910C>A
|
rs148937517
|
0.00041
|
NM_001079802.2(FKTN):c.*1249C>T
|
rs79589823
|
0.00039
|
NM_133642.5(LARGE1):c.*823_*824dup
|
rs140177888
|
0.00039
|
NM_003863.4(DPM2):c.*553G>A
|
rs886063480
|
0.00038
|
NM_001077365.2(POMT1):c.*613C>T
|
rs551579745
|
0.00037
|
NM_133642.5(LARGE1):c.*796C>T
|
rs144150303
|
0.00035
|
NM_013382.7(POMT2):c.*196G>A
|
rs773072355
|
0.00034
|
NM_017739.4(POMGNT1):c.486A>G (p.Leu162=)
|
rs138330966
|
0.00034
|
NM_013382.7(POMT2):c.*1805G>A
|
rs184473107
|
0.00033
|
NM_133642.5(LARGE1):c.*998A>G
|
rs886057455
|
0.00033
|
NM_133642.5(LARGE1):c.*798G>A
|
rs778063005
|
0.00029
|
NM_170707.4(LMNA):c.1584G>A (p.Thr528=)
|
rs80356812
|
0.00029
|
NM_003863.3(DPM2):c.-211T>G
|
rs187834148
|
0.00027
|
NM_001077365.2(POMT1):c.2097C>T (p.Tyr699=)
|
rs138902646
|
0.00026
|
NM_001079802.2(FKTN):c.*1843A>T
|
rs117283748
|
0.00026
|
NM_001079802.2(FKTN):c.*3516T>C
|
rs1041010308
|
0.00026
|
NM_133642.5(LARGE1):c.178C>T (p.Arg60Trp)
|
rs142135345
|
0.00025
|
NM_133642.5(LARGE1):c.1878-11G>T
|
rs200819807
|
0.00025
|
NM_170707.4(LMNA):c.1634G>A (p.Arg545His)
|
rs142191737
|
0.00025
|
NM_003863.3(DPM2):c.-612G>C
|
rs886063487
|
0.00024
|
NM_013382.7(POMT2):c.*622C>G
|
rs886050819
|
0.00024
|
NM_133642.5(LARGE1):c.*155C>T
|
rs551266967
|
0.00023
|
NM_170707.4(LMNA):c.1698+83G>A
|
rs555844506
|
0.00023
|
NM_005198.5(CHKB):c.263C>T (p.Pro88Leu)
|
rs146163970
|
0.00022
|
NM_013382.7(POMT2):c.*2165T>C
|
rs770272986
|
0.00022
|
NM_001077365.2(POMT1):c.789G>C (p.Leu263Phe)
|
rs201073763
|
0.00021
|
NM_133642.5(LARGE1):c.*699G>A
|
rs760092745
|
0.00021
|
NM_013382.7(POMT2):c.*1252C>A
|
rs569143920
|
0.00020
|
NM_003863.3(DPM2):c.-523C>A
|
rs1010662067
|
0.00019
|
NM_013382.7(POMT2):c.*2053C>A
|
rs759715686
|
0.00019
|
NM_133642.5(LARGE1):c.-343C>A
|
rs886057467
|
0.00019
|
NM_133642.5(LARGE1):c.*455C>T
|
rs886057460
|
0.00018
|
NM_001077365.2(POMT1):c.*614G>A
|
rs373680261
|
0.00017
|
NM_133642.5(LARGE1):c.584G>A (p.Arg195His)
|
rs147597912
|
0.00017
|
NM_001077365.2(POMT1):c.1727T>C (p.Val576Ala)
|
rs144338642
|
0.00016
|
NM_001079802.2(FKTN):c.*1845G>T
|
rs886063328
|
0.00016
|
NM_001079802.2(FKTN):c.*5356C>T
|
rs553575648
|
0.00016
|
NM_001079802.2(FKTN):c.*71C>T
|
rs747766931
|
0.00016
|
NM_003863.3(DPM2):c.-141G>A
|
rs886063485
|
0.00016
|
NM_005198.5(CHKB):c.-27G>A
|
rs367729011
|
0.00016
|
NM_013382.7(POMT2):c.1321G>A (p.Gly441Ser)
|
rs199743727
|
0.00016
|
NM_133642.5(LARGE1):c.-247T>G
|
rs886057463
|
0.00016
|
NM_153741.2(DPM3):c.249C>A (p.Ala83=)
|
rs193215070
|
0.00016
|
NM_001077365.2(POMT1):c.1117G>C (p.Val373Leu)
|
rs200508760
|
0.00015
|
NM_001077365.2(POMT1):c.606-15G>C
|
rs201897506
|
0.00015
|
NM_001079802.2(FKTN):c.*2433G>A
|
rs886063329
|
0.00015
|
NM_003863.3(DPM2):c.*632T>C
|
rs371958283
|
0.00015
|
NM_001077365.2(POMT1):c.928G>A (p.Val310Ile)
|
rs190112934
|
0.00014
|
NM_001079802.2(FKTN):c.*1017A>G
|
rs886063324
|
0.00014
|
NM_001079802.2(FKTN):c.*1681G>A
|
rs886063327
|
0.00014
|
NM_017739.4(POMGNT1):c.420G>A (p.Thr140=)
|
rs146237009
|
0.00014
|
NM_005198.5(CHKB):c.275C>T (p.Pro92Leu)
|
rs140867913
|
0.00013
|
NM_013382.7(POMT2):c.648C>T (p.Cys216=)
|
rs147871747
|
0.00013
|
NM_170707.4(LMNA):c.1488+14C>T
|
rs377700689
|
0.00013
|
NM_001077365.2(POMT1):c.1461C>T (p.Asn487=)
|
rs373482514
|
0.00012
|
NM_017739.4(POMGNT1):c.960C>G (p.Arg320=)
|
rs146933218
|
0.00012
|
NM_133642.5(LARGE1):c.1599C>T (p.Ile533=)
|
rs12627793
|
0.00012
|
NM_001077365.2(POMT1):c.1793G>A (p.Arg598Gln)
|
rs202140413
|
0.00011
|
NM_001079802.2(FKTN):c.*2508G>T
|
rs886063330
|
0.00011
|
NM_001079802.2(FKTN):c.*3547C>T
|
rs886063336
|
0.00011
|
NM_005198.5(CHKB):c.944A>G (p.His315Arg)
|
rs199641367
|
0.00011
|
NM_013382.7(POMT2):c.*1724C>T
|
rs45510397
|
0.00011
|
NM_013382.7(POMT2):c.1250A>G (p.Lys417Arg)
|
rs147268052
|
0.00011
|
NM_017739.4(POMGNT1):c.752-15G>A
|
rs368317059
|
0.00011
|
NM_133642.5(LARGE1):c.*499G>A
|
rs886057458
|
0.00011
|
NM_133642.5(LARGE1):c.2073+11C>T
|
rs774384587
|
0.00011
|
NM_133642.5(LARGE1):c.460G>A (p.Val154Ile)
|
rs138938225
|
0.00011
|
NM_001077365.2(POMT1):c.*105G>A
|
rs886063539
|
0.00010
|
NM_001077365.2(POMT1):c.330C>G (p.Leu110=)
|
rs138064523
|
0.00010
|
NM_001079802.2(FKTN):c.*3377A>G
|
rs148172557
|
0.00010
|
NM_013382.7(POMT2):c.*693C>G
|
rs752332125
|
0.00010
|
NM_013382.7(POMT2):c.-149C>A
|
rs886050828
|
0.00010
|
NM_133642.5(LARGE1):c.*770A>T
|
rs886057456
|
0.00010
|
NM_133642.5(LARGE1):c.*849C>T
|
rs149508241
|
0.00010
|
NM_001077365.2(POMT1):c.*448C>T
|
rs373799176
|
0.00009
|
NM_001077365.2(POMT1):c.*591C>T
|
rs1012682271
|
0.00009
|
NM_001077365.2(POMT1):c.803G>A (p.Arg268His)
|
rs369644530
|
0.00009
|
NM_013382.7(POMT2):c.*1749C>A
|
rs543216671
|
0.00009
|
NM_013382.7(POMT2):c.*727C>T
|
rs980293755
|
0.00009
|
NM_013382.7(POMT2):c.*766C>T
|
rs552352814
|
0.00009
|
NM_017739.4(POMGNT1):c.-141A>G
|
rs886046387
|
0.00009
|
NM_170707.4(LMNA):c.-138T>C
|
rs886045359
|
0.00009
|
NM_001077365.2(POMT1):c.1486+10C>T
|
rs373393733
|
0.00008
|
NM_001079802.2(FKTN):c.*2984C>T
|
rs886063332
|
0.00008
|
NM_003863.4(DPM2):c.-5G>A
|
rs371551833
|
0.00008
|
NM_005198.5(CHKB):c.708C>T (p.Val236=)
|
rs141934594
|
0.00008
|
NM_170707.4(LMNA):c.471G>A (p.Thr157=)
|
rs150645079
|
0.00008
|
NM_005198.5(CHKB):c.219C>T (p.Pro73=)
|
rs751273046
|
0.00007
|
NM_133642.5(LARGE1):c.857G>A (p.Arg286His)
|
rs200035534
|
0.00007
|
NM_001077365.2(POMT1):c.*37G>A
|
rs201474628
|
0.00006
|
NM_001079802.2(FKTN):c.*2254A>G
|
rs764218622
|
0.00006
|
NM_005198.5(CHKB):c.1037C>T (p.Ala346Val)
|
rs772616505
|
0.00006
|
NM_005198.5(CHKB):c.980C>T (p.Ser327Phe)
|
rs371355721
|
0.00006
|
NM_013382.7(POMT2):c.*1548G>A
|
rs902166672
|
0.00006
|
NM_013382.7(POMT2):c.*1818T>C
|
rs1010549526
|
0.00006
|
NM_013382.7(POMT2):c.*637C>G
|
rs1327896686
|
0.00006
|
NM_013382.7(POMT2):c.1396C>T (p.Arg466Trp)
|
rs763119319
|
0.00006
|
NM_017739.4(POMGNT1):c.38T>C (p.Phe13Ser)
|
rs377724143
|
0.00006
|
NM_133642.5(LARGE1):c.*186C>T
|
rs780030367
|
0.00006
|
NM_133642.5(LARGE1):c.-242C>T
|
rs886057462
|
0.00006
|
NM_133642.5(LARGE1):c.-277T>G
|
rs886057464
|
0.00006
|
NM_133642.5(LARGE1):c.-287A>G
|
rs886057465
|
0.00006
|
NM_133642.5(LARGE1):c.-83+63184A>C
|
rs759992064
|
0.00006
|
NM_133642.5(LARGE1):c.99C>T (p.Ser33=)
|
rs377353667
|
0.00006
|
NM_170707.4(LMNA):c.1149G>A (p.Glu383=)
|
rs267607603
|
0.00006
|
NM_001079802.2(FKTN):c.*954T>A
|
rs886063323
|
0.00005
|
NM_003863.4(DPM2):c.197-5C>T
|
rs886063482
|
0.00005
|
NM_005198.4(CHKB):c.-94G>A
|
rs886057639
|
0.00005
|
NM_013382.7(POMT2):c.*2200G>A
|
rs1037547422
|
0.00005
|
NM_013382.7(POMT2):c.*289G>A
|
rs886050823
|
0.00005
|
NM_013382.7(POMT2):c.*601G>A
|
rs150190025
|
0.00005
|
NM_017739.4(POMGNT1):c.129C>T (p.Ala43=)
|
rs138950267
|
0.00005
|
NM_017739.4(POMGNT1):c.1540-6C>T
|
rs770449394
|
0.00005
|
NM_133642.5(LARGE1):c.1389C>T (p.Tyr463=)
|
rs115686643
|
0.00005
|
NM_170707.4(LMNA):c.1488G>A (p.Thr496=)
|
rs375516745
|
0.00005
|
NM_001077365.2(POMT1):c.*68C>T
|
rs773474667
|
0.00004
|
NM_001077365.2(POMT1):c.1417G>A (p.Gly473Arg)
|
rs376882399
|
0.00004
|
NM_001079802.2(FKTN):c.*1175C>T
|
rs996474083
|
0.00004
|
NM_001079802.2(FKTN):c.207T>C (p.Asn69=)
|
rs752921570
|
0.00004
|
NM_001079802.2(FKTN):c.397A>G (p.Met133Val)
|
rs569778463
|
0.00004
|
NM_013382.7(POMT2):c.*119T>C
|
rs886050824
|
0.00004
|
NM_013382.7(POMT2):c.*11A>G
|
rs373236103
|
0.00004
|
NM_013382.7(POMT2):c.*1265T>G
|
rs886050816
|
0.00004
|
NM_013382.7(POMT2):c.*2359A>T
|
rs564345093
|
0.00004
|
NM_013382.7(POMT2):c.*809G>A
|
rs1035134599
|
0.00004
|
NM_013382.7(POMT2):c.1692G>A (p.Thr564=)
|
rs183828175
|
0.00004
|
NM_013382.7(POMT2):c.631G>A (p.Val211Ile)
|
rs373139592
|
0.00004
|
NM_133642.5(LARGE1):c.*566G>A
|
rs878945156
|
0.00004
|
NM_133642.5(LARGE1):c.1287C>T (p.Asn429=)
|
rs561439887
|
0.00004
|
NM_133642.5(LARGE1):c.26G>A (p.Arg9Gln)
|
rs763697782
|
0.00004
|
NM_170707.4(LMNA):c.350A>G (p.Lys117Arg)
|
rs397517901
|
0.00004
|
NM_170707.4(LMNA):c.936+12C>T
|
rs199881992
|
0.00004
|
NM_001077365.2(POMT1):c.-30G>A
|
rs780382988
|
0.00003
|
NM_001077365.2(POMT1):c.1084C>A (p.His362Asn)
|
rs141229412
|
0.00003
|
NM_001077365.2(POMT1):c.1488C>T (p.Ser496=)
|
rs727503872
|
0.00003
|
NM_001077365.2(POMT1):c.2083C>T (p.Arg695Cys)
|
rs200179598
|
0.00003
|
NM_001077365.2(POMT1):c.757G>A (p.Val253Ile)
|
rs772590277
|
0.00003
|
NM_001079802.2(FKTN):c.*1276C>T
|
rs886063325
|
0.00003
|
NM_001079802.2(FKTN):c.*2505A>G
|
rs367988702
|
0.00003
|
NM_001079802.2(FKTN):c.*760A>C
|
rs532531159
|
0.00003
|
NM_001079802.2(FKTN):c.*79C>T
|
rs530616539
|
0.00003
|
NM_001079802.2(FKTN):c.-136A>G
|
rs886063318
|
0.00003
|
NM_005198.5(CHKB):c.*126C>T
|
rs112742765
|
0.00003
|
NM_005198.5(CHKB):c.214T>C (p.Tyr72His)
|
rs747691808
|
0.00003
|
NM_005198.5(CHKB):c.927+10C>G
|
rs549171476
|
0.00003
|
NM_007171.3(POMT1):c.-195C>T
|
rs886063536
|
0.00003
|
NM_007171.3(POMT1):c.-196G>T
|
rs886063535
|
0.00003
|
NM_013382.7(POMT2):c.*349G>A
|
rs886050822
|
0.00003
|
NM_013382.7(POMT2):c.*927G>C
|
rs886050818
|
0.00003
|
NM_013382.7(POMT2):c.553G>A (p.Gly185Arg)
|
rs886050826
|
0.00003
|
NM_017739.4(POMGNT1):c.1738C>A (p.Arg580=)
|
rs386834018
|
0.00003
|
NM_017739.4(POMGNT1):c.277A>G (p.Ser93Gly)
|
rs751402236
|
0.00003
|
NM_017739.4(POMGNT1):c.46C>T (p.Arg16Trp)
|
rs34058684
|
0.00003
|
NM_017739.4(POMGNT1):c.698C>T (p.Ser233Phe)
|
rs569061665
|
0.00003
|
NM_133642.5(LARGE1):c.*580C>T
|
rs776235903
|
0.00003
|
NM_133642.5(LARGE1):c.*833A>G
|
rs748248240
|
0.00003
|
NM_133642.5(LARGE1):c.*969G>A
|
rs892305427
|
0.00003
|
NM_133642.5(LARGE1):c.-47C>T
|
rs775356534
|
0.00003
|
NM_133642.5(LARGE1):c.2208G>A (p.Gln736=)
|
rs759427879
|
0.00003
|
NM_170707.4(LMNA):c.1227A>G (p.Thr409=)
|
rs762130433
|
0.00003
|
NM_170707.4(LMNA):c.1324G>A (p.Val442Met)
|
rs368542816
|
0.00003
|
NM_170707.4(LMNA):c.1517A>C (p.His506Pro)
|
rs878855233
|
0.00003
|
NM_170707.4(LMNA):c.937-8C>A
|
rs751707982
|
0.00003
|
NM_001077365.2(POMT1):c.*64T>A
|
rs892418533
|
0.00002
|
NM_001077365.2(POMT1):c.*693C>T
|
rs886063541
|
0.00002
|
NM_001077365.2(POMT1):c.36G>A (p.Thr12=)
|
rs201262353
|
0.00002
|
NM_001077365.2(POMT1):c.817G>A (p.Asp273Asn)
|
rs754611085
|
0.00002
|
NM_001079802.2(FKTN):c.*2464G>A
|
rs1054760144
|
0.00002
|
NM_001079802.2(FKTN):c.*3352C>A
|
rs143805719
|
0.00002
|
NM_001079802.2(FKTN):c.-39G>A
|
rs1284252327
|
0.00002
|
NM_005198.5(CHKB):c.722A>G (p.Asn241Ser)
|
rs371751084
|
0.00002
|
NM_005198.5(CHKB):c.745T>C (p.Leu249=)
|
rs760310819
|
0.00002
|
NM_013382.7(POMT2):c.*1053A>G
|
rs886050817
|
0.00002
|
NM_013382.7(POMT2):c.1105C>T (p.Arg369Cys)
|
rs779190087
|
0.00002
|
NM_013382.7(POMT2):c.1651C>T (p.Arg551Trp)
|
rs751153662
|
0.00002
|
NM_133642.5(LARGE1):c.1320C>T (p.Asp440=)
|
rs772615481
|
0.00002
|
NM_133642.5(LARGE1):c.2070G>A (p.Val690=)
|
rs771631103
|
0.00002
|
NM_170707.4(LMNA):c.-109G>T
|
rs886045360
|
0.00002
|
NM_170707.4(LMNA):c.-44T>A
|
rs1185731069
|
0.00002
|
NM_170707.4(LMNA):c.1698+57G>A
|
rs557334569
|
0.00002
|
NM_170707.4(LMNA):c.294G>A (p.Glu98=)
|
rs886045363
|
0.00002
|
NM_170707.4(LMNA):c.295C>A (p.Arg99Ser)
|
rs886045364
|
0.00002
|
NM_001077365.2(POMT1):c.1101C>T (p.Ser367=)
|
rs771523115
|
0.00001
|
NM_001077365.2(POMT1):c.1199G>C (p.Ser400Thr)
|
rs149575164
|
0.00001
|
NM_001077365.2(POMT1):c.1357G>A (p.Val453Ile)
|
rs1008021925
|
0.00001
|
NM_001077365.2(POMT1):c.1765G>A (p.Ala589Thr)
|
rs747138675
|
0.00001
|
NM_001077365.2(POMT1):c.1867G>A (p.Gly623Ser)
|
rs756303645
|
0.00001
|
NM_001079802.2(FKTN):c.*1511A>G
|
rs886063326
|
0.00001
|
NM_001079802.2(FKTN):c.*166A>G
|
rs1419619269
|
0.00001
|
NM_001079802.2(FKTN):c.*324G>C
|
rs536822992
|
0.00001
|
NM_001079802.2(FKTN):c.*4501A>G
|
rs1045549173
|
0.00001
|
NM_001079802.2(FKTN):c.*4599G>A
|
rs886063338
|
0.00001
|
NM_001079802.2(FKTN):c.*462T>C
|
rs1014071784
|
0.00001
|
NM_001079802.2(FKTN):c.*4908A>G
|
rs1834324161
|
0.00001
|
NM_001079802.2(FKTN):c.*4940C>G
|
rs886063339
|
0.00001
|
NM_001079802.2(FKTN):c.*5003T>G
|
rs886063340
|
0.00001
|
NM_001079802.2(FKTN):c.*5161C>T
|
rs886063341
|
0.00001
|
NM_001079802.2(FKTN):c.*777C>A
|
rs369316426
|
0.00001
|
NM_001079802.2(FKTN):c.-114G>A
|
rs1564210000
|
0.00001
|
NM_001079802.2(FKTN):c.1188G>A (p.Lys396=)
|
rs886063320
|
0.00001
|
NM_001079802.2(FKTN):c.277A>G (p.Thr93Ala)
|
rs886063319
|
0.00001
|
NM_001079802.2(FKTN):c.445G>A (p.Gly149Arg)
|
rs200686690
|
0.00001
|
NM_001079802.2(FKTN):c.820C>T (p.Arg274Trp)
|
rs558187116
|
0.00001
|
NM_003863.3(DPM2):c.-208G>A
|
rs1290789503
|
0.00001
|
NM_003863.3(DPM2):c.-88C>T
|
rs886063484
|
0.00001
|
NM_003863.4(DPM2):c.*14A>T
|
rs1352343761
|
0.00001
|
NM_003863.4(DPM2):c.*529G>A
|
rs926580610
|
0.00001
|
NM_005198.5(CHKB):c.-13T>C
|
rs2070729352
|
0.00001
|
NM_005198.5(CHKB):c.1031+12G>A
|
rs777277938
|
0.00001
|
NM_005198.5(CHKB):c.1114-6C>T
|
rs151123092
|
0.00001
|
NM_005198.5(CHKB):c.234C>G (p.Leu78=)
|
rs929019284
|
0.00001
|
NM_005198.5(CHKB):c.678-12A>G
|
rs749813559
|
0.00001
|
NM_005198.5(CHKB):c.692C>G (p.Ser231Cys)
|
rs199783402
|
0.00001
|
NM_005198.5(CHKB):c.940C>T (p.Arg314Cys)
|
rs200919604
|
0.00001
|
NM_005572.3(LMNA):c.-210T>C
|
rs886045356
|
0.00001
|
NM_013382.7(POMT2):c.*1285T>C
|
rs886050815
|
0.00001
|
NM_013382.7(POMT2):c.*1579C>A
|
rs780717261
|
0.00001
|
NM_013382.7(POMT2):c.*2381A>G
|
rs993351501
|
0.00001
|
NM_013382.7(POMT2):c.*316C>G
|
rs1460121683
|
0.00001
|
NM_013382.7(POMT2):c.*597C>T
|
rs886050820
|
0.00001
|
NM_013382.7(POMT2):c.1183+6G>C
|
rs1381239018
|
0.00001
|
NM_013382.7(POMT2):c.1186C>T (p.Pro396Ser)
|
rs764723711
|
0.00001
|
NM_013382.7(POMT2):c.1274G>C (p.Ser425Thr)
|
rs774466835
|
0.00001
|
NM_013382.7(POMT2):c.50G>C (p.Arg17Pro)
|
rs753326186
|
0.00001
|
NM_013382.7(POMT2):c.651C>T (p.Ala217=)
|
rs147845081
|
0.00001
|
NM_013382.7(POMT2):c.891C>A (p.Thr297=)
|
rs769829396
|
0.00001
|
NM_013382.7(POMT2):c.924-6C>T
|
rs764462802
|
0.00001
|
NM_017739.4(POMGNT1):c.-64G>A
|
rs927602645
|
0.00001
|
NM_017739.4(POMGNT1):c.1482C>T (p.Asp494=)
|
rs769213562
|
0.00001
|
NM_017739.4(POMGNT1):c.250C>T (p.Arg84Cys)
|
rs1238403887
|
0.00001
|
NM_017739.4(POMGNT1):c.385C>T (p.Arg129Trp)
|
rs375431575
|
0.00001
|
NM_017739.4(POMGNT1):c.813A>C (p.Lys271Asn)
|
rs757156888
|
0.00001
|
NM_017739.4(POMGNT1):c.862G>A (p.Glu288Lys)
|
rs1476814352
|
0.00001
|
NM_017739.4(POMGNT1):c.959G>T (p.Arg320Leu)
|
rs368653589
|
0.00001
|
NM_032237.5(POMK):c.43C>T (p.Arg15Ter)
|
rs774013796
|
0.00001
|
NM_133642.5(LARGE1):c.*1229G>A
|
rs918504034
|
0.00001
|
NM_133642.5(LARGE1):c.-34G>A
|
rs759430272
|
0.00001
|
NM_133642.5(LARGE1):c.-359C>G
|
rs886057468
|
0.00001
|
NM_133642.5(LARGE1):c.-500T>C
|
rs968923312
|
0.00001
|
NM_133642.5(LARGE1):c.-527C>T
|
rs956387343
|
0.00001
|
NM_133642.5(LARGE1):c.1005+15T>G
|
rs1414312676
|
0.00001
|
NM_133642.5(LARGE1):c.227A>C (p.Asn76Thr)
|
rs752854659
|
0.00001
|
NM_133642.5(LARGE1):c.230G>A (p.Arg77His)
|
rs1402888044
|
0.00001
|
NM_133642.5(LARGE1):c.251G>C (p.Ser84Thr)
|
rs398124184
|
0.00001
|
NM_133642.5(LARGE1):c.492-6C>G
|
rs762612242
|
0.00001
|
NM_133642.5(LARGE1):c.506A>G (p.His169Arg)
|
rs886057461
|
0.00001
|
NM_153741.2(DPM3):c.178C>T (p.Arg60Cys)
|
rs766751249
|
0.00001
|
NM_170707.4(LMNA):c.1027C>T (p.Arg343Trp)
|
rs749784223
|
0.00001
|
NM_170707.4(LMNA):c.1358G>A (p.Arg453Gln)
|
rs267607598
|
0.00001
|
NM_170707.4(LMNA):c.1487C>T (p.Thr496Met)
|
rs200466188
|
0.00001
|
NM_170707.4(LMNA):c.398G>A (p.Arg133Gln)
|
rs60864230
|
0.00001
|
NM_170707.4(LMNA):c.514-11C>T
|
rs886045365
|
0.00001
|
NM_170707.4(LMNA):c.749C>T (p.Ala250Val)
|
rs397517907
|
0.00001
|
NM_170707.4(LMNA):c.953C>T (p.Ala318Val)
|
rs1212920276
|
0.00001
|
NM_170707.4(LMNA):c.985C>G (p.Arg329Gly)
|
rs775159300
|
0.00001
|
NM_001077365.2(POMT1):c.*285A>G
|
rs4740259
|
|
NM_001077365.2(POMT1):c.*330G>A
|
rs556148765
|
|
NM_001077365.2(POMT1):c.*370C>G
|
rs1950358020
|
|
NM_001077365.2(POMT1):c.*381G>A
|
rs57955153
|
|
NM_001077365.2(POMT1):c.-83C>T
|
rs550740786
|
|
NM_001077365.2(POMT1):c.1083-7C>G
|
rs1428085460
|
|
NM_001077365.2(POMT1):c.1110G>T (p.Pro370=)
|
rs766759606
|
|
NM_001077365.2(POMT1):c.1249C>T (p.Pro417Ser)
|
rs1948110753
|
|
NM_001077365.2(POMT1):c.1311G>A (p.Lys437=)
|
rs1949210371
|
|
NM_001077365.2(POMT1):c.1323A>C (p.Ser441=)
|
rs753403833
|
|
NM_001077365.2(POMT1):c.1581G>A (p.Leu527=)
|
rs1378023866
|
|
NM_001077365.2(POMT1):c.2004-9C>T
|
rs886063538
|
|
NM_001077365.2(POMT1):c.2067C>A (p.His689Gln)
|
rs141895982
|
|
NM_001077365.2(POMT1):c.26T>C (p.Val9Ala)
|
rs1945225387
|
|
NM_001077365.2(POMT1):c.459G>A (p.Met153Ile)
|
rs1184495903
|
|
NM_001077365.2(POMT1):c.699+18G>C
|
rs886063537
|
|
NM_001077365.2(POMT1):c.927C>T (p.Asn309=)
|
rs753694905
|
|
NM_001079802.2(FKTN):c.*2516G>T
|
rs886063331
|
|
NM_001079802.2(FKTN):c.*2640G>C
|
rs556673268
|
|
NM_001079802.2(FKTN):c.*2674A>G
|
rs1834156242
|
|
NM_001079802.2(FKTN):c.*2902C>T
|
rs1834171760
|
|
NM_001079802.2(FKTN):c.*2904G>A
|
rs138806979
|
|
NM_001079802.2(FKTN):c.*3046T>C
|
rs886063333
|
|
NM_001079802.2(FKTN):c.*3156A>T
|
rs886063334
|
|
NM_001079802.2(FKTN):c.*3312T>G
|
rs1343215418
|
|
NM_001079802.2(FKTN):c.*3432dup
|
rs879020291
|
|
NM_001079802.2(FKTN):c.*3985C>T
|
rs1293866364
|
|
NM_001079802.2(FKTN):c.*4238del
|
rs776272545
|
|
NM_001079802.2(FKTN):c.*42del
|
rs749100291
|
|
NM_001079802.2(FKTN):c.*436C>T
|
rs886063322
|
|
NM_001079802.2(FKTN):c.*4646A>G
|
rs1834308173
|
|
NM_001079802.2(FKTN):c.*4705G>A
|
rs1834312188
|
|
NM_001079802.2(FKTN):c.*4826A>G
|
rs1834318656
|
|
NM_001079802.2(FKTN):c.*5303dup
|
rs879263714
|
|
NM_001079802.2(FKTN):c.*5817A>C
|
rs886063343
|
|
NM_001079802.2(FKTN):c.*806G>C
|
rs75971372
|
|
NM_001079802.2(FKTN):c.-181+1G>T
|
rs574535599
|
|
NM_001079802.2(FKTN):c.-45G>T
|
rs77013649
|
|
NM_001079802.2(FKTN):c.-90del
|
rs727502845
|
|
NM_001079802.2(FKTN):c.1023G>A (p.Pro341=)
|
rs146967918
|
|
NM_001079802.2(FKTN):c.1337A>T (p.Asn446Ile)
|
rs374912618
|
|
NM_001079802.2(FKTN):c.374G>T (p.Gly125Val)
|
rs142783718
|
|
NM_001079802.2(FKTN):c.664G>A (p.Val222Ile)
|
rs1293245717
|
|
NM_001079802.2(FKTN):c.705A>G (p.Pro235=)
|
rs1829190548
|
|
NM_001079802.2(FKTN):c.766C>A (p.Arg256=)
|
rs377417974
|
|
NM_001079802.2(FKTN):c.910+7T>G
|
rs1830641729
|
|
NM_001079802.2(FKTN):c.911-13A>G
|
rs766103012
|
|
NM_002206.3(ITGA7):c.180dup (p.Gln61fs)
|
rs1565644465
|
|
NM_003863.3(DPM2):c.-267T>C
|
rs1831540551
|
|
NM_003863.3(DPM2):c.-319G>A
|
rs886063486
|
|
NM_003863.3(DPM2):c.-84G>A
|
rs1831537719
|
|
NM_003863.4(DPM2):c.*124G>C
|
rs1831491179
|
|
NM_003863.4(DPM2):c.*231C>T
|
rs1831489245
|
|
NM_003863.4(DPM2):c.*404C>T
|
rs1245531633
|
|
NM_003863.4(DPM2):c.*49G>T
|
rs886063481
|
|
NM_003863.4(DPM2):c.*510A>G
|
rs1831485679
|
|
NM_003863.4(DPM2):c.37del (p.Leu13fs)
|
rs1349389319
|
|
NM_003863.4(DPM2):c.88C>G (p.Leu30Val)
|
rs886063483
|
|
NM_005198.5(CHKB):c.-19G>T
|
rs373596637
|
|
NM_005198.5(CHKB):c.1114-14G>A
|
rs756289571
|
|
NM_005198.5(CHKB):c.1114-3T>G
|
rs886057638
|
|
NM_005198.5(CHKB):c.447+12G>A
|
rs749454476
|
|
NM_005198.5(CHKB):c.512T>C (p.Met171Thr)
|
rs774685301
|
|
NM_005198.5(CHKB):c.565_568del (p.Phe189fs)
|
rs752436924
|
|
NM_005198.5(CHKB):c.819-15A>T
|
rs1272038088
|
|
NM_005572.3(LMNA):c.-225C>A
|
rs886045355
|
|
NM_005572.3(LMNA):c.-226C>T
|
rs886045354
|
|
NM_013382.7(POMT2):c.*103C>T
|
rs886050825
|
|
NM_013382.7(POMT2):c.*1043C>T
|
rs373396403
|
|
NM_013382.7(POMT2):c.*1317A>G
|
rs144329117
|
|
NM_013382.7(POMT2):c.*1317A>T
|
rs144329117
|
|
NM_013382.7(POMT2):c.*1474G>A
|
rs749841763
|
|
NM_013382.7(POMT2):c.*15T>C
|
rs538140316
|
|
NM_013382.7(POMT2):c.*1610T>C
|
rs886050814
|
|
NM_013382.7(POMT2):c.*1641C>T
|
rs151201281
|
|
NM_013382.7(POMT2):c.*1734A>C
|
rs1889915019
|
|
NM_013382.7(POMT2):c.*1774C>T
|
rs1889911263
|
|
NM_013382.7(POMT2):c.*186C>G
|
rs547018226
|
|
NM_013382.7(POMT2):c.*1893G>A
|
rs114623446
|
|
NM_013382.7(POMT2):c.*1906G>A
|
rs1429067153
|
|
NM_013382.7(POMT2):c.*2077T>C
|
rs1889895782
|
|
NM_013382.7(POMT2):c.*2080G>A
|
rs1889895704
|
|
NM_013382.7(POMT2):c.*2093A>G
|
rs528818473
|
|
NM_013382.7(POMT2):c.*2151A>G
|
rs45579739
|
|
NM_013382.7(POMT2):c.*574T>C
|
rs574135706
|
|
NM_013382.7(POMT2):c.*594G>A
|
rs886050821
|
|
NM_013382.7(POMT2):c.*605C>G
|
rs186897393
|
|
NM_013382.7(POMT2):c.*605C>T
|
rs186897393
|
|
NM_013382.7(POMT2):c.-113G>A
|
rs1891868176
|
|
NM_013382.7(POMT2):c.-136G>A
|
rs1891870150
|
|
NM_013382.7(POMT2):c.-172C>A
|
rs897215490
|
|
NM_013382.7(POMT2):c.-176C>G
|
rs978645827
|
|
NM_013382.7(POMT2):c.1133A>G (p.His378Arg)
|
rs867000155
|
|
NM_013382.7(POMT2):c.1367T>C (p.Ile456Thr)
|
rs1890397099
|
|
NM_013382.7(POMT2):c.1464G>A (p.Ser488=)
|
rs375698520
|
|
NM_013382.7(POMT2):c.1576+10G>T
|
rs756884609
|
|
NM_013382.7(POMT2):c.1725+13G>C
|
rs1890173997
|
|
NM_013382.7(POMT2):c.1793G>A (p.Trp598Ter)
|
rs1566644018
|
|
NM_013382.7(POMT2):c.232G>C (p.Glu78Gln)
|
rs151103906
|
|
NM_013382.7(POMT2):c.547+14G>T
|
rs1404659015
|
|
NM_013382.7(POMT2):c.90C>T (p.Gly30=)
|
rs923004188
|
|
NM_017739.4(POMGNT1):c.*207G>A
|
rs1657534329
|
|
NM_017739.4(POMGNT1):c.-144C>T
|
rs1571674193
|
|
NM_017739.4(POMGNT1):c.1007T>C (p.Phe336Ser)
|
rs886046385
|
|
NM_017739.4(POMGNT1):c.121-6C>A
|
rs558052679
|
|
NM_017739.4(POMGNT1):c.121A>G (p.Thr41Ala)
|
rs886046386
|
|
NM_017739.4(POMGNT1):c.1285-2A>G
|
rs386834012
|
|
NM_017739.4(POMGNT1):c.1698C>T (p.Phe566=)
|
rs1657621738
|
|
NM_017739.4(POMGNT1):c.1878C>T (p.Val626=)
|
rs1657570765
|
|
NM_017739.4(POMGNT1):c.1889C>G (p.Pro630Arg)
|
rs747723242
|
|
NM_017739.4(POMGNT1):c.287G>A (p.Arg96Gln)
|
rs200227264
|
|
NM_133642.5(LARGE1):c.*479A>T
|
rs886057459
|
|
NM_133642.5(LARGE1):c.*501T>C
|
rs886057457
|
|
NM_133642.5(LARGE1):c.*639T>G
|
rs373361875
|
|
NM_133642.5(LARGE1):c.*995T>C
|
rs1928531659
|
|
NM_133642.5(LARGE1):c.-202C>A
|
rs946350081
|
|
NM_133642.5(LARGE1):c.-292G>C
|
rs886057466
|
|
NM_133642.5(LARGE1):c.-377C>G
|
rs1218154642
|
|
NM_133642.5(LARGE1):c.1426C>A (p.Leu476Met)
|
rs369168322
|
|
NM_133642.5(LARGE1):c.1600G>A (p.Val534Met)
|
rs1428533575
|
|
NM_133642.5(LARGE1):c.1776G>T (p.Met592Ile)
|
rs576967464
|
|
NM_133642.5(LARGE1):c.188A>G (p.Glu63Gly)
|
rs539747006
|
|
NM_133642.5(LARGE1):c.2073+12G>A
|
rs377566674
|
|
NM_133642.5(LARGE1):c.220G>A (p.Glu74Lys)
|
rs757062605
|
|
NM_133642.5(LARGE1):c.2212A>G (p.Met738Val)
|
rs1928773545
|
|
NM_133642.5(LARGE1):c.479T>G (p.Val160Gly)
|
rs1372134080
|
|
NM_133642.5(LARGE1):c.909T>G (p.Leu303=)
|
rs563144239
|
|
NM_170707.4(LMNA):c.-142C>A
|
rs886045358
|
|
NM_170707.4(LMNA):c.-183C>A
|
rs886045357
|
|
NM_170707.4(LMNA):c.-5C>A
|
rs886045362
|
|
NM_170707.4(LMNA):c.-62C>A
|
rs886045361
|
|
NM_170707.4(LMNA):c.-88G>T
|
rs115800510
|
|
NM_170707.4(LMNA):c.1338T>G (p.Asp446Glu)
|
rs505058
|
|
NM_170707.4(LMNA):c.1445G>T (p.Arg482Leu)
|
rs11575937
|
|
NM_170707.4(LMNA):c.1551G>A (p.Gln517=)
|
rs41314035
|
|
NM_170707.4(LMNA):c.1698+124C>T
|
rs1057516022
|
|
NM_170707.4(LMNA):c.356+12C>A
|
rs1649747809
|
|
NM_170707.4(LMNA):c.745C>T (p.Arg249Trp)
|
rs121912496
|
|
NM_170707.4(LMNA):c.796A>G (p.Thr266Ala)
|
rs1651418246
|
|
NM_170707.4(LMNA):c.985C>A (p.Arg329Ser)
|
rs775159300
|
|