NM_022369.4(STRA6):c.*222G>A
|
rs10910
|
0.56107
|
NM_001080477.4(TENM3):c.3863-26G>C
|
rs13130747
|
0.55028
|
NM_000193.4(SHH):c.301-49G>A
|
rs1233555
|
0.48163
|
NM_001080477.4(TENM3):c.1791T>C (p.Ser597=)
|
rs2871328
|
0.41875
|
NM_182894.3(VSX2):c.471C>T (p.Ser157=)
|
rs35435463
|
0.38441
|
NM_001080477.4(TENM3):c.3379+25G>C
|
rs2309769
|
0.35017
|
NM_001080477.4(TENM3):c.3629+21G>A
|
rs7676674
|
0.34515
|
NM_022369.4(STRA6):c.1167-10C>G
|
rs2277608
|
0.19949
|
NM_182894.3(VSX2):c.*579C>T
|
rs12588074
|
0.18128
|
NM_001080477.4(TENM3):c.3957C>T (p.Gly1319=)
|
rs17263582
|
0.17773
|
NM_022369.4(STRA6):c.*127T>C
|
rs11631944
|
0.16338
|
NM_022369.4(STRA6):c.331C>T (p.Leu111=)
|
rs11857410
|
0.15148
|
NM_022369.4(STRA6):c.1581G>A (p.Met527Ile)
|
rs736118
|
0.10407
|
NM_182894.3(VSX2):c.*1302G>A
|
rs8020424
|
0.07204
|
NM_182894.3(VSX2):c.*455C>T
|
rs73309254
|
0.07191
|
NM_182894.3(VSX2):c.*1074C>T
|
rs34263984
|
0.06214
|
NM_000965.5(RARB):c.306+19G>A
|
rs77748152
|
0.04069
|
NM_182894.3(VSX2):c.*670G>A
|
rs45556237
|
0.03401
|
NM_022369.4(STRA6):c.*489T>C
|
rs75117524
|
0.03106
|
NM_182894.3(VSX2):c.831G>A (p.Leu277=)
|
rs62006815
|
0.02860
|
NM_022369.4(STRA6):c.*569T>C
|
rs78299262
|
0.02762
|
NM_182894.3(VSX2):c.*1803A>C
|
rs11848458
|
0.02759
|
NM_001001557.4(GDF6):c.936G>C (p.Ser312=)
|
rs148861809
|
0.02643
|
NM_182894.3(VSX2):c.*39C>T
|
rs117813701
|
0.02245
|
NM_000965.5(RARB):c.1155A>G (p.Ala385=)
|
rs61733682
|
0.01990
|
NM_182894.3(VSX2):c.871G>A (p.Asp291Asn)
|
rs75395981
|
0.01619
|
NM_022369.4(STRA6):c.597+9T>G
|
rs28541560
|
0.01509
|
NM_182894.3(VSX2):c.*261G>T
|
rs115396145
|
0.01157
|
NM_022369.4(STRA6):c.*75C>A
|
rs182529524
|
0.01016
|
NM_022369.4(STRA6):c.1416G>A (p.Ser472=)
|
rs351241
|
0.00924
|
NM_022369.4(STRA6):c.1903G>A (p.Gly635Ser)
|
rs145614612
|
0.00790
|
NM_022369.4(STRA6):c.173C>T (p.Ser58Leu)
|
rs142105038
|
0.00787
|
NM_022369.4(STRA6):c.367G>C (p.Ala123Pro)
|
rs115067613
|
0.00746
|
NM_022369.4(STRA6):c.1771G>A (p.Ala591Thr)
|
rs115331762
|
0.00660
|
NM_022369.4(STRA6):c.1840+12C>T
|
rs118056606
|
0.00660
|
NM_182894.3(VSX2):c.*1252C>T
|
rs28441537
|
0.00629
|
NM_182894.3(VSX2):c.*1377C>T
|
rs150033933
|
0.00628
|
NM_182894.3(VSX2):c.*54G>A
|
rs144840915
|
0.00627
|
NM_182894.3(VSX2):c.*291A>T
|
rs148109679
|
0.00619
|
NM_001001557.4(GDF6):c.852C>G (p.Ser284=)
|
rs74498875
|
0.00603
|
NM_182894.3(VSX2):c.*1311G>A
|
rs114889622
|
0.00562
|
NM_022369.4(STRA6):c.91G>A (p.Gly31Ser)
|
rs111489755
|
0.00533
|
NM_000193.4(SHH):c.300+17G>A
|
rs116412905
|
0.00504
|
NM_182894.3(VSX2):c.*1640T>C
|
rs140752449
|
0.00486
|
NM_182894.3(VSX2):c.299C>A (p.Pro100Gln)
|
rs35214083
|
0.00448
|
NM_182894.3(VSX2):c.*855G>A
|
rs45608043
|
0.00434
|
NM_022369.4(STRA6):c.1223G>A (p.Arg408Gln)
|
rs150814749
|
0.00390
|
NM_001001557.4(GDF6):c.255G>T (p.Pro85=)
|
rs112296824
|
0.00366
|
NM_022369.4(STRA6):c.946G>A (p.Val316Met)
|
rs150219390
|
0.00344
|
NM_005689.4(ABCB6):c.575G>A (p.Arg192Gln)
|
rs150221689
|
0.00303
|
NM_182894.3(VSX2):c.*962G>T
|
rs367835329
|
0.00299
|
NM_005689.4(ABCB6):c.688-9C>T
|
rs146410593
|
0.00294
|
NM_005689.4(ABCB6):c.1361T>C (p.Val454Ala)
|
rs61733629
|
0.00285
|
NM_182894.3(VSX2):c.*1565G>A
|
rs142543750
|
0.00242
|
NM_182894.3(VSX2):c.162C>A (p.Asp54Glu)
|
rs61747367
|
0.00226
|
NM_001001557.4(GDF6):c.112G>C (p.Gly38Arg)
|
rs139075817
|
0.00217
|
NM_022369.4(STRA6):c.1301-12C>T
|
rs79510426
|
0.00205
|
NM_022369.4(STRA6):c.993G>A (p.Thr331=)
|
rs116753967
|
0.00205
|
NM_001001557.4(GDF6):c.746C>A (p.Ala249Glu)
|
rs121909352
|
0.00200
|
NM_182894.3(VSX2):c.*11G>A
|
rs140814896
|
0.00193
|
NM_022369.4(STRA6):c.1836C>T (p.Asp612=)
|
rs142048815
|
0.00192
|
NM_000193.4(SHH):c.869G>A (p.Gly290Asp)
|
rs104894047
|
0.00191
|
NM_020634.3(GDF3):c.796C>T (p.Arg266Cys)
|
rs140926412
|
0.00188
|
NM_020634.3(GDF3):c.583C>T (p.Arg195Trp)
|
rs112895783
|
0.00165
|
NM_022369.4(STRA6):c.1026C>T (p.Ile342=)
|
rs79382990
|
0.00160
|
NM_182894.3(VSX2):c.*250C>T
|
rs144569223
|
0.00148
|
NM_182894.3(VSX2):c.*1212G>A
|
rs117409214
|
0.00120
|
NM_022369.4(STRA6):c.1685-5C>G
|
rs201730717
|
0.00112
|
NM_182894.3(VSX2):c.*156G>A
|
rs141741225
|
0.00111
|
NM_022369.4(STRA6):c.826C>T (p.Arg276Cys)
|
rs142089943
|
0.00106
|
NM_022369.4(STRA6):c.357C>T (p.Pro119=)
|
rs139775570
|
0.00100
|
NM_001001557.4(GDF6):c.125G>T (p.Gly42Val)
|
rs121909354
|
0.00098
|
NM_001001557.4(GDF6):c.866T>C (p.Leu289Pro)
|
rs63751220
|
0.00090
|
NM_182894.3(VSX2):c.699C>T (p.Pro233=)
|
rs141712104
|
0.00082
|
NM_022369.4(STRA6):c.*190C>T
|
rs191496909
|
0.00079
|
NM_022369.4(STRA6):c.239G>A (p.Cys80Tyr)
|
rs180889966
|
0.00070
|
NM_022369.4(STRA6):c.973G>T (p.Val325Leu)
|
rs202174410
|
0.00067
|
NM_001001557.4(GDF6):c.356A>G (p.Gln119Arg)
|
rs140579014
|
0.00061
|
NM_022369.4(STRA6):c.145C>T (p.Pro49Ser)
|
rs151176007
|
0.00056
|
NM_000965.5(RARB):c.920A>C (p.Asn307Thr)
|
rs146757345
|
0.00053
|
NM_182894.3(VSX2):c.939T>A (p.Ala313=)
|
rs372651860
|
0.00051
|
NM_000965.5(RARB):c.768C>T (p.Ala256=)
|
rs115482149
|
0.00049
|
NM_022369.4(STRA6):c.1419-11C>T
|
rs199508878
|
0.00048
|
NM_022369.4(STRA6):c.388G>A (p.Ala130Thr)
|
rs141477248
|
0.00045
|
NM_022369.4(STRA6):c.961A>C (p.Thr321Pro)
|
rs118203962
|
0.00041
|
NM_022369.4(STRA6):c.902C>T (p.Thr301Ile)
|
rs139450204
|
0.00040
|
NM_182894.3(VSX2):c.171C>G (p.Ala57=)
|
rs201395979
|
0.00038
|
NM_000965.5(RARB):c.270G>A (p.Gly90=)
|
rs116825683
|
0.00036
|
NM_182894.3(VSX2):c.*45T>C
|
rs546717162
|
0.00034
|
NM_022369.4(STRA6):c.1957G>A (p.Val653Ile)
|
rs150687411
|
0.00032
|
NM_022369.4(STRA6):c.*178C>T
|
rs746189629
|
0.00029
|
NM_182894.3(VSX2):c.*1511C>T
|
rs145366747
|
0.00029
|
NM_182894.3(VSX2):c.750G>A (p.Pro250=)
|
rs192712847
|
0.00027
|
NM_001001557.4(GDF6):c.407-3C>T
|
rs374740957
|
0.00026
|
NM_001001557.4(GDF6):c.921G>C (p.Ala307=)
|
rs545149100
|
0.00024
|
NM_182894.3(VSX2):c.579G>A (p.Gln193=)
|
rs182972044
|
0.00024
|
NM_000193.4(SHH):c.1178C>G (p.Ala393Gly)
|
rs751239867
|
0.00023
|
NM_001001557.4(GDF6):c.250G>A (p.Glu84Lys)
|
rs148321868
|
0.00022
|
NM_182894.3(VSX2):c.244G>A (p.Gly82Arg)
|
rs375294678
|
0.00021
|
NM_001001557.4(GDF6):c.429C>T (p.Leu143=)
|
rs375992269
|
0.00020
|
NM_022369.4(STRA6):c.1391T>G (p.Leu464Arg)
|
rs201408425
|
0.00020
|
NM_022369.4(STRA6):c.1692C>T (p.Tyr564=)
|
rs757931484
|
0.00020
|
NM_022369.4(STRA6):c.2001C>T (p.Pro667=)
|
rs147077716
|
0.00020
|
NM_001001557.4(GDF6):c.574C>T (p.Leu192Phe)
|
rs565877093
|
0.00019
|
NM_022369.4(STRA6):c.*105G>A
|
rs567317604
|
0.00019
|
NM_022369.4(STRA6):c.386T>C (p.Leu129Pro)
|
rs139557843
|
0.00017
|
NM_001001557.4(GDF6):c.24C>G (p.Leu8=)
|
rs369859861
|
0.00016
|
NM_001001557.4(GDF6):c.407-20A>C
|
rs536565151
|
0.00016
|
NM_001001557.4(GDF6):c.435A>G (p.Arg145=)
|
rs369127445
|
0.00016
|
NM_022369.4(STRA6):c.*324C>T
|
rs757666088
|
0.00016
|
NM_022369.4(STRA6):c.1677C>T (p.Leu559=)
|
rs201582612
|
0.00016
|
NM_022369.4(STRA6):c.406+5C>T
|
rs202172221
|
0.00016
|
NM_182894.3(VSX2):c.249G>A (p.Gly83=)
|
rs751526974
|
0.00016
|
NM_022369.4(STRA6):c.*10A>C
|
rs545309882
|
0.00015
|
NM_001001557.4(GDF6):c.1304C>T (p.Ala435Val)
|
rs140782427
|
0.00014
|
NM_001001557.4(GDF6):c.878T>C (p.Met293Thr)
|
rs762304422
|
0.00014
|
NM_022369.4(STRA6):c.1970C>T (p.Thr657Met)
|
rs144043304
|
0.00013
|
NM_000965.5(RARB):c.787-18A>G
|
rs188860314
|
0.00012
|
NM_000965.5(RARB):c.741C>T (p.Ile247=)
|
rs139584096
|
0.00011
|
NM_022369.4(STRA6):c.1242C>T (p.Arg414=)
|
rs568924861
|
0.00011
|
NM_022369.4(STRA6):c.407-9A>T
|
rs558310892
|
0.00011
|
NM_022369.4(STRA6):c.*189G>T
|
rs529087735
|
0.00010
|
NM_022369.4(STRA6):c.1566G>T (p.Val522=)
|
rs886051474
|
0.00010
|
NM_022369.4(STRA6):c.1668C>T (p.Ala556=)
|
rs372149672
|
0.00010
|
NM_182894.3(VSX2):c.564G>A (p.Pro188=)
|
rs201354547
|
0.00010
|
NM_001001557.4(GDF6):c.483G>T (p.Leu161=)
|
rs200585226
|
0.00009
|
NM_001001557.4(GDF6):c.90C>G (p.Ser30=)
|
rs143020575
|
0.00009
|
NM_001001557.4(GDF6):c.957C>A (p.Ala319=)
|
rs757525366
|
0.00009
|
NM_022369.4(STRA6):c.*399G>A
|
rs555469778
|
0.00009
|
NM_182894.3(VSX2):c.*782C>A
|
rs140678898
|
0.00009
|
NM_022369.4(STRA6):c.1803C>T (p.Ala601=)
|
rs2277607
|
0.00008
|
NM_022369.4(STRA6):c.180A>G (p.Ser60=)
|
rs186185335
|
0.00008
|
NM_022369.4(STRA6):c.653T>C (p.Phe218Ser)
|
rs764331156
|
0.00008
|
NM_001001557.4(GDF6):c.1071G>A (p.Lys357=)
|
rs151332138
|
0.00007
|
NM_001001557.4(GDF6):c.815C>T (p.Pro272Leu)
|
rs561421783
|
0.00007
|
NM_022369.4(STRA6):c.366C>T (p.Asp122=)
|
rs147428518
|
0.00007
|
NM_182894.3(VSX2):c.455+3G>T
|
rs374857946
|
0.00007
|
NM_000965.5(RARB):c.264A>T (p.Ser88=)
|
rs201295268
|
0.00006
|
NM_001001557.4(GDF6):c.169G>C (p.Asp57His)
|
rs397514725
|
0.00006
|
NM_001001557.4(GDF6):c.322G>A (p.Ala108Thr)
|
rs368498747
|
0.00006
|
NM_001001557.4(GDF6):c.700C>A (p.Arg234=)
|
rs889118413
|
0.00006
|
NM_001001557.4(GDF6):c.726C>T (p.Ala242=)
|
rs879574630
|
0.00006
|
NM_001001557.4(GDF6):c.902A>G (p.Glu301Gly)
|
rs768532556
|
0.00006
|
NM_022369.4(STRA6):c.*381C>T
|
rs544748271
|
0.00006
|
NM_022369.4(STRA6):c.1694C>T (p.Thr565Met)
|
rs200483434
|
0.00006
|
NM_022369.4(STRA6):c.387C>A (p.Leu129=)
|
rs150860532
|
0.00006
|
NM_022369.4(STRA6):c.591G>A (p.Val197=)
|
rs138499753
|
0.00006
|
NM_182894.3(VSX2):c.*1757A>T
|
rs886050745
|
0.00006
|
NM_182894.3(VSX2):c.862C>T (p.Arg288Trp)
|
rs76055170
|
0.00006
|
NM_001001557.4(GDF6):c.1322A>G (p.Tyr441Cys)
|
rs752600101
|
0.00005
|
NM_001001557.4(GDF6):c.186G>C (p.Arg62=)
|
rs781205930
|
0.00005
|
NM_001001557.4(GDF6):c.595G>A (p.Ala199Thr)
|
rs387906794
|
0.00005
|
NM_022369.4(STRA6):c.1520G>A (p.Arg507Gln)
|
rs751477964
|
0.00005
|
NM_182894.3(VSX2):c.*1537G>A
|
rs149197006
|
0.00005
|
NM_182894.3(VSX2):c.504C>T (p.Asn168=)
|
rs550984628
|
0.00005
|
NM_000965.5(RARB):c.991+10A>G
|
rs772873447
|
0.00004
|
NM_001001557.4(GDF6):c.115T>C (p.Ser39Pro)
|
rs749337343
|
0.00004
|
NM_001001557.4(GDF6):c.1282A>G (p.Ile428Val)
|
rs144578143
|
0.00004
|
NM_001001557.4(GDF6):c.167G>C (p.Arg56Pro)
|
rs375108591
|
0.00004
|
NM_001001557.4(GDF6):c.30C>A (p.Ala10=)
|
rs778071820
|
0.00004
|
NM_001001557.4(GDF6):c.40A>G (p.Ile14Val)
|
rs773668867
|
0.00004
|
NM_001001557.4(GDF6):c.528C>T (p.Pro176=)
|
rs548565578
|
0.00004
|
NM_001001557.4(GDF6):c.725C>G (p.Ala242Gly)
|
rs886043381
|
0.00004
|
NM_001001557.4(GDF6):c.857G>A (p.Arg286His)
|
rs764553577
|
0.00004
|
NM_001080477.4(TENM3):c.4411C>T (p.Leu1471Phe)
|
rs569985378
|
0.00004
|
NM_022369.4(STRA6):c.-28G>C
|
rs578022066
|
0.00004
|
NM_022369.4(STRA6):c.1191A>G (p.Arg397=)
|
rs373116551
|
0.00004
|
NM_022369.4(STRA6):c.1341G>A (p.Thr447=)
|
rs368073018
|
0.00004
|
NM_022369.4(STRA6):c.1931C>T (p.Thr644Met)
|
rs118203960
|
0.00004
|
NM_182894.3(VSX2):c.*10C>T
|
rs559868301
|
0.00004
|
NM_000965.5(RARB):c.288C>T (p.Ser96=)
|
rs138872395
|
0.00003
|
NM_000965.5(RARB):c.960C>A (p.Gly320=)
|
rs775637491
|
0.00003
|
NM_001001557.4(GDF6):c.1271A>G (p.Lys424Arg)
|
rs121909353
|
0.00003
|
NM_001001557.4(GDF6):c.1293A>G (p.Leu431=)
|
rs768948963
|
0.00003
|
NM_001001557.4(GDF6):c.33C>T (p.Val11=)
|
rs756577201
|
0.00003
|
NM_001001557.4(GDF6):c.407-19A>G
|
rs1445514042
|
0.00003
|
NM_001001557.4(GDF6):c.418C>G (p.His140Asp)
|
rs370351474
|
0.00003
|
NM_001001557.4(GDF6):c.544G>C (p.Gly182Arg)
|
rs767572263
|
0.00003
|
NM_001001557.4(GDF6):c.594C>T (p.Asp198=)
|
rs994022206
|
0.00003
|
NM_001001557.4(GDF6):c.770C>T (p.Pro257Leu)
|
rs886063208
|
0.00003
|
NM_001001557.4(GDF6):c.785G>A (p.Ser262Asn)
|
rs747899927
|
0.00003
|
NM_001001557.4(GDF6):c.809G>A (p.Arg270Gln)
|
rs781155701
|
0.00003
|
NM_020634.3(GDF3):c.820C>T (p.Arg274Trp)
|
rs387906946
|
0.00003
|
NM_022369.4(STRA6):c.-83G>A
|
rs954180650
|
0.00003
|
NM_022369.4(STRA6):c.1670C>T (p.Ala557Val)
|
rs748286024
|
0.00003
|
NM_022369.4(STRA6):c.1693A>G (p.Thr565Ala)
|
rs548988185
|
0.00003
|
NM_022369.4(STRA6):c.1992T>C (p.Gly664=)
|
rs775309731
|
0.00003
|
NM_022369.4(STRA6):c.4T>C (p.Ser2Pro)
|
rs763026708
|
0.00003
|
NM_182894.3(VSX2):c.*1396C>T
|
rs1425694540
|
0.00003
|
NM_182894.3(VSX2):c.*150G>C
|
rs1345431869
|
0.00003
|
NM_182894.3(VSX2):c.*1753C>T
|
rs886050744
|
0.00003
|
NM_182894.3(VSX2):c.777G>A (p.Ser259=)
|
rs371707151
|
0.00003
|
NM_182894.3(VSX2):c.866G>A (p.Gly289Asp)
|
rs199473712
|
0.00003
|
NM_000965.5(RARB):c.1316G>C (p.Ser439Thr)
|
rs368432868
|
0.00002
|
NM_001001557.4(GDF6):c.1233C>T (p.Asp411=)
|
rs774375234
|
0.00002
|
NM_001001557.4(GDF6):c.1302C>T (p.Asp434=)
|
rs138730867
|
0.00002
|
NM_001001557.4(GDF6):c.18C>T (p.Val6=)
|
rs745979763
|
0.00002
|
NM_001001557.4(GDF6):c.253C>T (p.Pro85Ser)
|
rs766458579
|
0.00002
|
NM_001001557.4(GDF6):c.546G>A (p.Gly182=)
|
rs528471783
|
0.00002
|
NM_001001557.4(GDF6):c.703G>A (p.Ala235Thr)
|
rs1262253139
|
0.00002
|
NM_001001557.4(GDF6):c.728G>T (p.Gly243Val)
|
rs772188117
|
0.00002
|
NM_001001557.4(GDF6):c.959C>G (p.Pro320Arg)
|
rs888138096
|
0.00002
|
NM_001001557.4(GDF6):c.964G>A (p.Ala322Thr)
|
rs200317462
|
0.00002
|
NM_001080477.4(TENM3):c.1982A>G (p.Glu661Gly)
|
rs766092012
|
0.00002
|
NM_022369.4(STRA6):c.1963C>T (p.Arg655Cys)
|
rs118203959
|
0.00002
|
NM_022369.4(STRA6):c.720+15C>T
|
rs760855615
|
0.00002
|
NM_182894.3(VSX2):c.679C>T (p.Arg227Trp)
|
rs121912545
|
0.00002
|
NM_000193.4(SHH):c.1147G>A (p.Ala383Thr)
|
rs137853341
|
0.00001
|
NM_000965.5(RARB):c.1038A>G (p.Glu346=)
|
rs760433691
|
0.00001
|
NM_000965.5(RARB):c.410G>A (p.Arg137Gln)
|
rs1387195672
|
0.00001
|
NM_001001557.4(GDF6):c.1106A>G (p.Asp369Gly)
|
rs774573217
|
0.00001
|
NM_001001557.4(GDF6):c.1140C>T (p.Ala380=)
|
rs1266231101
|
0.00001
|
NM_001001557.4(GDF6):c.1237G>A (p.Gly413Ser)
|
rs984197099
|
0.00001
|
NM_001001557.4(GDF6):c.123G>A (p.Lys41=)
|
rs756381156
|
0.00001
|
NM_001001557.4(GDF6):c.1254C>T (p.Ser418=)
|
rs1195615332
|
0.00001
|
NM_001001557.4(GDF6):c.1310A>G (p.Asn437Ser)
|
rs376427985
|
0.00001
|
NM_001001557.4(GDF6):c.157C>A (p.Arg53=)
|
rs753326851
|
0.00001
|
NM_001001557.4(GDF6):c.223C>T (p.Pro75Ser)
|
rs1040541530
|
0.00001
|
NM_001001557.4(GDF6):c.224C>G (p.Pro75Arg)
|
rs1378920942
|
0.00001
|
NM_001001557.4(GDF6):c.225C>T (p.Pro75=)
|
rs763584976
|
0.00001
|
NM_001001557.4(GDF6):c.245C>T (p.Ala82Val)
|
rs988646683
|
0.00001
|
NM_001001557.4(GDF6):c.246G>T (p.Ala82=)
|
rs770548453
|
0.00001
|
NM_001001557.4(GDF6):c.267T>C (p.Gly89=)
|
rs769923080
|
0.00001
|
NM_001001557.4(GDF6):c.27G>A (p.Ser9=)
|
rs1215904741
|
0.00001
|
NM_001001557.4(GDF6):c.305A>G (p.Tyr102Cys)
|
rs1204502085
|
0.00001
|
NM_001001557.4(GDF6):c.401G>A (p.Gly134Glu)
|
rs966679733
|
0.00001
|
NM_001001557.4(GDF6):c.403C>T (p.Leu135=)
|
rs1021290257
|
0.00001
|
NM_001001557.4(GDF6):c.407-5C>T
|
rs758091453
|
0.00001
|
NM_001001557.4(GDF6):c.416C>T (p.Ser139Leu)
|
rs1812463539
|
0.00001
|
NM_001001557.4(GDF6):c.492G>C (p.Ala164=)
|
rs757029731
|
0.00001
|
NM_001001557.4(GDF6):c.534G>T (p.Gly178=)
|
rs756016892
|
0.00001
|
NM_001001557.4(GDF6):c.554A>C (p.His185Pro)
|
rs763275206
|
0.00001
|
NM_001001557.4(GDF6):c.583C>T (p.Leu195=)
|
rs777218109
|
0.00001
|
NM_001001557.4(GDF6):c.606G>T (p.Leu202=)
|
rs749079662
|
0.00001
|
NM_001001557.4(GDF6):c.642C>A (p.Val214=)
|
rs1343770559
|
0.00001
|
NM_001001557.4(GDF6):c.647A>G (p.Asp216Gly)
|
rs1812457627
|
0.00001
|
NM_001001557.4(GDF6):c.675C>T (p.Pro225=)
|
rs1199396087
|
0.00001
|
NM_001001557.4(GDF6):c.701G>T (p.Arg234Leu)
|
rs748092776
|
0.00001
|
NM_001001557.4(GDF6):c.709T>C (p.Trp237Arg)
|
rs1036909955
|
0.00001
|
NM_001001557.4(GDF6):c.743G>T (p.Arg248Leu)
|
rs765707228
|
0.00001
|
NM_001001557.4(GDF6):c.764C>T (p.Pro255Leu)
|
rs762654952
|
0.00001
|
NM_001001557.4(GDF6):c.817C>A (p.Gln273Lys)
|
rs780167779
|
0.00001
|
NM_001001557.4(GDF6):c.82A>C (p.Ile28Leu)
|
rs760516509
|
0.00001
|
NM_001001557.4(GDF6):c.876G>C (p.Glu292Asp)
|
rs1401531865
|
0.00001
|
NM_001001557.4(GDF6):c.885G>A (p.Glu295=)
|
rs565004364
|
0.00001
|
NM_001001557.4(GDF6):c.896C>T (p.Ser299Leu)
|
rs761634996
|
0.00001
|
NM_001001557.4(GDF6):c.924C>A (p.Gly308=)
|
rs1586118480
|
0.00001
|
NM_001001557.4(GDF6):c.948G>A (p.Pro316=)
|
rs774587683
|
0.00001
|
NM_001001557.4(GDF6):c.954C>T (p.Gly318=)
|
rs1277401260
|
0.00001
|
NM_001080477.4(TENM3):c.7687C>T (p.Arg2563Trp)
|
rs755000701
|
0.00001
|
NM_001080477.4(TENM3):c.8053G>A (p.Ala2685Thr)
|
rs761695007
|
0.00001
|
NM_005689.4(ABCB6):c.1511T>C (p.Val504Ala)
|
rs763768429
|
0.00001
|
NM_005689.4(ABCB6):c.169G>A (p.Ala57Thr)
|
rs387906911
|
0.00001
|
NM_005689.4(ABCB6):c.2000G>C (p.Gly667Ala)
|
rs1377097612
|
0.00001
|
NM_020634.3(GDF3):c.974C>T (p.Pro325Leu)
|
rs566697767
|
0.00001
|
NM_022369.4(STRA6):c.*32G>T
|
rs886051473
|
0.00001
|
NM_022369.4(STRA6):c.*368G>C
|
rs1052233880
|
0.00001
|
NM_022369.4(STRA6):c.1053G>A (p.Val351=)
|
rs753723974
|
0.00001
|
NM_022369.4(STRA6):c.105G>A (p.Gln35=)
|
rs199782189
|
0.00001
|
NM_022369.4(STRA6):c.1300+10C>T
|
rs940086112
|
0.00001
|
NM_022369.4(STRA6):c.1300+18G>A
|
rs776408592
|
0.00001
|
NM_022369.4(STRA6):c.1349C>A (p.Ala450Asp)
|
rs748743382
|
0.00001
|
NM_022369.4(STRA6):c.1377T>C (p.His459=)
|
rs753144270
|
0.00001
|
NM_022369.4(STRA6):c.1519C>T (p.Arg507Trp)
|
rs376678879
|
0.00001
|
NM_022369.4(STRA6):c.1521-1G>A
|
rs397518484
|
0.00001
|
NM_022369.4(STRA6):c.1867T>G (p.Ser623Ala)
|
rs781757356
|
0.00001
|
NM_022369.4(STRA6):c.1964G>A (p.Arg655His)
|
rs397514639
|
0.00001
|
NM_022369.4(STRA6):c.69G>A (p.Trp23Ter)
|
rs267607096
|
0.00001
|
NM_022369.4(STRA6):c.741T>G (p.Ser247=)
|
rs748339728
|
0.00001
|
NM_022369.4(STRA6):c.878C>T (p.Pro293Leu)
|
rs118203958
|
0.00001
|
NM_022369.4(STRA6):c.945G>A (p.Leu315=)
|
rs779538114
|
0.00001
|
NM_182894.3(VSX2):c.*1029T>A
|
rs45474800
|
0.00001
|
NM_182894.3(VSX2):c.*1447C>G
|
rs886050741
|
0.00001
|
NM_182894.3(VSX2):c.*1521T>C
|
rs886050742
|
0.00001
|
NM_182894.3(VSX2):c.*1764A>G
|
rs886050746
|
0.00001
|
NM_182894.3(VSX2):c.*430C>T
|
rs563564973
|
0.00001
|
NM_182894.3(VSX2):c.*590C>T
|
rs1468412939
|
0.00001
|
NM_182894.3(VSX2):c.*775A>G
|
rs886050740
|
0.00001
|
NM_182894.3(VSX2):c.175G>A (p.Gly59Arg)
|
rs886050736
|
0.00001
|
NM_182894.3(VSX2):c.371-14C>T
|
rs750778630
|
0.00001
|
NM_182894.3(VSX2):c.371-1G>A
|
rs1395124261
|
0.00001
|
NM_182894.3(VSX2):c.505G>A (p.Glu169Lys)
|
rs573993188
|
0.00001
|
NC_000003.11:g.(?_25470223)_(25824881_?)del
|
|
|
NC_000003.12:g.(?_25569738)_(25596636_?)dup
|
|
|
NC_000008.10:g.(?_96037237)_(97345794_?)dup
|
|
|
NM_000193.4(SHH):c.1102G>T (p.Glu368Ter)
|
rs753315599
|
|
NM_000193.4(SHH):c.1210_1233del (p.Gly404_Gly411del)
|
rs780129844
|
|
NM_000965.5(RARB):c.1151G>A (p.Gly384Asp)
|
rs1701834292
|
|
NM_000965.5(RARB):c.1159C>A (p.Arg387Ser)
|
rs397518483
|
|
NM_000965.5(RARB):c.1159C>T (p.Arg387Cys)
|
rs397518483
|
|
NM_000965.5(RARB):c.1180G>T (p.Glu394Ter)
|
rs1575553528
|
|
NM_000965.5(RARB):c.1181A>G (p.Glu394Gly)
|
rs2125330280
|
|
NM_000965.5(RARB):c.1193C>G (p.Ser398Ter)
|
rs1701836507
|
|
NM_000965.5(RARB):c.1205_1206dup (p.Ile403fs)
|
rs397518482
|
|
NM_000965.5(RARB):c.1210C>T (p.Gln404Ter)
|
rs1575553547
|
|
NM_000965.5(RARB):c.1211A>C (p.Gln404Pro)
|
rs1559485305
|
|
NM_000965.5(RARB):c.1250C>G (p.Thr417Ser)
|
|
|
NM_000965.5(RARB):c.157+1895G>A
|
|
|
NM_000965.5(RARB):c.158-15C>A
|
rs374770716
|
|
NM_000965.5(RARB):c.158-1G>A
|
|
|
NM_000965.5(RARB):c.158-7A>G
|
|
|
NM_000965.5(RARB):c.158-9C>G
|
rs78470280
|
|
NM_000965.5(RARB):c.224dup (p.Arg76fs)
|
rs1695165531
|
|
NM_000965.5(RARB):c.306+7A>G
|
|
|
NM_000965.5(RARB):c.355C>T (p.Arg119Ter)
|
rs397518481
|
|
NM_000965.5(RARB):c.409C>T (p.Arg137Ter)
|
rs1553624279
|
|
NM_000965.5(RARB):c.545A>G (p.Glu182Gly)
|
|
|
NM_000965.5(RARB):c.602A>G (p.Tyr201Cys)
|
|
|
NM_000965.5(RARB):c.634C>T (p.Arg212Ter)
|
|
|
NM_000965.5(RARB):c.638T>C (p.Leu213Pro)
|
rs869025222
|
|
NM_000965.5(RARB):c.646G>A (p.Gly216Ser)
|
|
|
NM_000965.5(RARB):c.683G>T (p.Cys228Phe)
|
|
|
NM_000965.5(RARB):c.806G>C (p.Arg269Thr)
|
rs1701696076
|
|
NM_000965.5(RARB):c.835T>G (p.Phe279Val)
|
rs1701696937
|
|
NM_000965.5(RARB):c.836T>C (p.Phe279Ser)
|
rs1701697098
|
|
NM_000965.5(RARB):c.841G>T (p.Asp281Tyr)
|
rs1701697256
|
|
NM_000965.5(RARB):c.851C>T (p.Thr284Ile)
|
rs1575550287
|
|
NM_000965.5(RARB):c.872A>T (p.His291Leu)
|
rs1553637470
|
|
NM_000965.5(RARB):c.881G>T (p.Gly294Val)
|
rs2125325458
|
|
NM_000965.5(RARB):c.887G>C (p.Gly296Ala)
|
rs869025221
|
|
NM_000965.5(RARB):c.991+11T>C
|
|
|
NM_001001557.4(GDF6):c.1001G>A (p.Arg334Gln)
|
|
|
NM_001001557.4(GDF6):c.1002_1003delinsAG (p.Arg335Gly)
|
rs1812445134
|
|
NM_001001557.4(GDF6):c.1008G>A (p.Thr336=)
|
|
|
NM_001001557.4(GDF6):c.100T>C (p.Ser34Pro)
|
rs2130238372
|
|
NM_001001557.4(GDF6):c.1011C>A (p.Ala337=)
|
|
|
NM_001001557.4(GDF6):c.1012T>C (p.Phe338Leu)
|
|
|
NM_001001557.4(GDF6):c.1022G>A (p.Arg341His)
|
rs764936321
|
|
NM_001001557.4(GDF6):c.1025A>G (p.His342Arg)
|
|
|
NM_001001557.4(GDF6):c.1032G>A (p.Lys344=)
|
|
|
NM_001001557.4(GDF6):c.1038C>T (p.His346=)
|
|
|
NM_001001557.4(GDF6):c.106G>A (p.Glu36Lys)
|
|
|
NM_001001557.4(GDF6):c.1080C>A (p.His360Gln)
|
rs1812443639
|
|
NM_001001557.4(GDF6):c.1081G>A (p.Val361Met)
|
rs771878776
|
|
NM_001001557.4(GDF6):c.1094A>C (p.Glu365Ala)
|
|
|
NM_001001557.4(GDF6):c.1099G>A (p.Gly367Ser)
|
rs745989382
|
|
NM_001001557.4(GDF6):c.10C>T (p.Pro4Ser)
|
rs1812746374
|
|
NM_001001557.4(GDF6):c.1116T>C (p.Ile372=)
|
|
|
NM_001001557.4(GDF6):c.1122G>C (p.Ala374=)
|
|
|
NM_001001557.4(GDF6):c.1125C>G (p.Pro375=)
|
|
|
NM_001001557.4(GDF6):c.1144C>T (p.His382Tyr)
|
rs2130205366
|
|
NM_001001557.4(GDF6):c.1145A>T (p.His382Leu)
|
|
|
NM_001001557.4(GDF6):c.1146C>T (p.His382=)
|
|
|
NM_001001557.4(GDF6):c.1173G>A (p.Leu391=)
|
rs1812441998
|
|
NM_001001557.4(GDF6):c.1178C>T (p.Ser393Leu)
|
rs926947319
|
|
NM_001001557.4(GDF6):c.1179G>T (p.Ser393=)
|
|
|
NM_001001557.4(GDF6):c.1194C>A (p.Thr398=)
|
rs767633784
|
|
NM_001001557.4(GDF6):c.119C>T (p.Thr40Ile)
|
|
|
NM_001001557.4(GDF6):c.1204A>G (p.Ile402Val)
|
|
|
NM_001001557.4(GDF6):c.1212G>A (p.Gln404=)
|
|
|
NM_001001557.4(GDF6):c.1214C>T (p.Thr405Met)
|
|
|
NM_001001557.4(GDF6):c.1229T>G (p.Met410Arg)
|
rs1812440547
|
|
NM_001001557.4(GDF6):c.122A>G (p.Lys41Arg)
|
|
|
NM_001001557.4(GDF6):c.1242C>T (p.Ser414=)
|
|
|
NM_001001557.4(GDF6):c.1244C>T (p.Thr415Ile)
|
rs1269055850
|
|
NM_001001557.4(GDF6):c.1248G>T (p.Pro416=)
|
|
|
NM_001001557.4(GDF6):c.125G>C (p.Gly42Ala)
|
rs121909354
|
|
NM_001001557.4(GDF6):c.1268C>T (p.Thr423Ile)
|
rs769886732
|
|
NM_001001557.4(GDF6):c.1296C>T (p.Tyr432=)
|
|
|
NM_001001557.4(GDF6):c.1306G>A (p.Gly436Ser)
|
rs1352200590
|
|
NM_001001557.4(GDF6):c.131_132delinsTT (p.Arg44Leu)
|
|
|
NM_001001557.4(GDF6):c.1333G>C (p.Glu445Gln)
|
rs1331641099
|
|
NM_001001557.4(GDF6):c.1347G>A (p.Val449=)
|
|
|
NM_001001557.4(GDF6):c.1353G>C (p.Ser451=)
|
|
|
NM_001001557.4(GDF6):c.1357G>A (p.Gly453Ser)
|
rs1178158158
|
|
NM_001001557.4(GDF6):c.1365G>A (p.Arg455=)
|
|
|
NM_001001557.4(GDF6):c.1365G>T (p.Arg455Ser)
|
|
|
NM_001001557.4(GDF6):c.136C>T (p.Arg46Cys)
|
|
|
NM_001001557.4(GDF6):c.141G>A (p.Lys47=)
|
|
|
NM_001001557.4(GDF6):c.144A>G (p.Glu48=)
|
|
|
NM_001001557.4(GDF6):c.158G>A (p.Arg53Gln)
|
|
|
NM_001001557.4(GDF6):c.168C>G (p.Arg56=)
|
|
|
NM_001001557.4(GDF6):c.180G>A (p.Ala60=)
|
|
|
NM_001001557.4(GDF6):c.184C>T (p.Arg62Trp)
|
|
|
NM_001001557.4(GDF6):c.19C>T (p.Leu7=)
|
|
|
NM_001001557.4(GDF6):c.201A>G (p.Pro67=)
|
rs2130238034
|
|
NM_001001557.4(GDF6):c.207G>T (p.Pro69=)
|
rs2130238023
|
|
NM_001001557.4(GDF6):c.209G>A (p.Arg70Gln)
|
|
|
NM_001001557.4(GDF6):c.212C>T (p.Pro71Leu)
|
|
|
NM_001001557.4(GDF6):c.213T>G (p.Pro71=)
|
rs1465598776
|
|
NM_001001557.4(GDF6):c.215A>G (p.Gln72Arg)
|
|
|
NM_001001557.4(GDF6):c.219C>A (p.Asp73Glu)
|
|
|
NM_001001557.4(GDF6):c.223C>A (p.Pro75Thr)
|
rs1040541530
|
|
NM_001001557.4(GDF6):c.227G>A (p.Arg76Gln)
|
|
|
NM_001001557.4(GDF6):c.229G>C (p.Ala77Pro)
|
|
|
NM_001001557.4(GDF6):c.239C>T (p.Pro80Leu)
|
rs2130237859
|
|
NM_001001557.4(GDF6):c.245C>A (p.Ala82Glu)
|
|
|
NM_001001557.4(GDF6):c.246G>A (p.Ala82=)
|
|
|
NM_001001557.4(GDF6):c.251A>G (p.Glu84Gly)
|
|
|
NM_001001557.4(GDF6):c.252G>A (p.Glu84=)
|
|
|
NM_001001557.4(GDF6):c.258A>T (p.Pro86=)
|
rs2130237722
|
|
NM_001001557.4(GDF6):c.268C>T (p.Pro90Ser)
|
|
|
NM_001001557.4(GDF6):c.26C>T (p.Ser9Leu)
|
|
|
NM_001001557.4(GDF6):c.272G>C (p.Arg91Pro)
|
rs768741148
|
|
NM_001001557.4(GDF6):c.273C>A (p.Arg91=)
|
|
|
NM_001001557.4(GDF6):c.276G>A (p.Val92=)
|
|
|
NM_001001557.4(GDF6):c.281C>G (p.Pro94Arg)
|
rs367883918
|
|
NM_001001557.4(GDF6):c.283C>T (p.His95Tyr)
|
rs2130237638
|
|
NM_001001557.4(GDF6):c.286G>C (p.Glu96Gln)
|
|
|
NM_001001557.4(GDF6):c.295C>T (p.Leu99=)
|
rs746383854
|
|
NM_001001557.4(GDF6):c.298T>C (p.Ser100Pro)
|
rs2130237604
|
|
NM_001001557.4(GDF6):c.301A>G (p.Ile101Val)
|
|
|
NM_001001557.4(GDF6):c.306C>T (p.Tyr102=)
|
|
|
NM_001001557.4(GDF6):c.316T>A (p.Ser106Thr)
|
rs751465124
|
|
NM_001001557.4(GDF6):c.31G>A (p.Val11Ile)
|
rs1812745847
|
|
NM_001001557.4(GDF6):c.323C>A (p.Ala108Asp)
|
rs1812739209
|
|
NM_001001557.4(GDF6):c.327G>A (p.Glu109=)
|
|
|
NM_001001557.4(GDF6):c.332T>G (p.Leu111Arg)
|
|
|
NM_001001557.4(GDF6):c.335G>C (p.Gly112Ala)
|
|
|
NM_001001557.4(GDF6):c.339C>T (p.Ile113=)
|
|
|
NM_001001557.4(GDF6):c.348C>G (p.Ser116Arg)
|
|
|
NM_001001557.4(GDF6):c.362C>T (p.Ser121Phe)
|
rs772435568
|
|
NM_001001557.4(GDF6):c.363C>T (p.Ser121=)
|
|
|
NM_001001557.4(GDF6):c.365A>C (p.Lys122Thr)
|
rs2130237421
|
|
NM_001001557.4(GDF6):c.366G>A (p.Lys122=)
|
|
|
NM_001001557.4(GDF6):c.36C>T (p.Phe12=)
|
|
|
NM_001001557.4(GDF6):c.377C>T (p.Thr126Met)
|
rs536331514
|
|
NM_001001557.4(GDF6):c.378G>T (p.Thr126=)
|
rs1812738202
|
|
NM_001001557.4(GDF6):c.387C>T (p.Ser129=)
|
rs2130237359
|
|
NM_001001557.4(GDF6):c.393A>G (p.Val131=)
|
rs2130237356
|
|
NM_001001557.4(GDF6):c.398G>A (p.Arg133Lys)
|
rs2130237348
|
|
NM_001001557.4(GDF6):c.399G>A (p.Arg133=)
|
|
|
NM_001001557.4(GDF6):c.406+11A>G
|
|
|
NM_001001557.4(GDF6):c.406+15A>C
|
|
|
NM_001001557.4(GDF6):c.406+17A>G
|
rs779812603
|
|
NM_001001557.4(GDF6):c.406+19G>A
|
|
|
NM_001001557.4(GDF6):c.406+19G>T
|
|
|
NM_001001557.4(GDF6):c.407-10dup
|
|
|
NM_001001557.4(GDF6):c.407-9A>G
|
|
|
NM_001001557.4(GDF6):c.413T>C (p.Leu138Pro)
|
rs2130208544
|
|
NM_001001557.4(GDF6):c.420C>T (p.His140=)
|
rs375769410
|
|
NM_001001557.4(GDF6):c.428T>C (p.Leu143Pro)
|
rs1812463179
|
|
NM_001001557.4(GDF6):c.432G>C (p.Arg144=)
|
|
|
NM_001001557.4(GDF6):c.449T>C (p.Phe150Ser)
|
|
|
NM_001001557.4(GDF6):c.454G>A (p.Val152Met)
|
|
|
NM_001001557.4(GDF6):c.457T>C (p.Ser153Pro)
|
rs1470026888
|
|
NM_001001557.4(GDF6):c.457_458delinsAA (p.Ser153Asn)
|
rs2130208395
|
|
NM_001001557.4(GDF6):c.460A>C (p.Met154Leu)
|
rs766667262
|
|
NM_001001557.4(GDF6):c.460A>G (p.Met154Val)
|
rs766667262
|
|
NM_001001557.4(GDF6):c.461T>C (p.Met154Thr)
|
|
|
NM_001001557.4(GDF6):c.468A>G (p.Ser156=)
|
|
|
NM_001001557.4(GDF6):c.481C>G (p.Leu161Val)
|
rs958381615
|
|
NM_001001557.4(GDF6):c.513G>A (p.Gln171=)
|
rs2130208153
|
|
NM_001001557.4(GDF6):c.534G>A (p.Gly178=)
|
|
|
NM_001001557.4(GDF6):c.535C>A (p.Pro179Thr)
|
|
|
NM_001001557.4(GDF6):c.536C>A (p.Pro179Gln)
|
rs1444302456
|
|
NM_001001557.4(GDF6):c.544G>A (p.Gly182Arg)
|
|
|
NM_001001557.4(GDF6):c.549G>T (p.Pro183=)
|
|
|
NM_001001557.4(GDF6):c.558G>A (p.Val186=)
|
|
|
NM_001001557.4(GDF6):c.581C>A (p.Pro194His)
|
|
|
NM_001001557.4(GDF6):c.598C>A (p.Arg200=)
|
|
|
NM_001001557.4(GDF6):c.5A>G (p.Asp2Gly)
|
|
|
NM_001001557.4(GDF6):c.603C>T (p.Thr201=)
|
|
|
NM_001001557.4(GDF6):c.604C>T (p.Leu202=)
|
rs1175841699
|
|
NM_001001557.4(GDF6):c.607G>T (p.Asp203Tyr)
|
|
|
NM_001001557.4(GDF6):c.60G>T (p.Leu20Phe)
|
|
|
NM_001001557.4(GDF6):c.611C>A (p.Pro204Gln)
|
|
|
NM_001001557.4(GDF6):c.611C>T (p.Pro204Leu)
|
rs999492360
|
|
NM_001001557.4(GDF6):c.612G>A (p.Pro204=)
|
rs777541984
|
|
NM_001001557.4(GDF6):c.612G>T (p.Pro204=)
|
|
|
NM_001001557.4(GDF6):c.616G>A (p.Gly206Arg)
|
|
|
NM_001001557.4(GDF6):c.616G>C (p.Gly206Arg)
|
|
|
NM_001001557.4(GDF6):c.619G>A (p.Ala207Thr)
|
rs2130207705
|
|
NM_001001557.4(GDF6):c.623C>T (p.Pro208Leu)
|
rs903826881
|
|
NM_001001557.4(GDF6):c.625C>T (p.Pro209Ser)
|
|
|
NM_001001557.4(GDF6):c.627G>A (p.Pro209=)
|
|
|
NM_001001557.4(GDF6):c.631G>A (p.Gly211Ser)
|
rs552234954
|
|
NM_001001557.4(GDF6):c.631G>C (p.Gly211Arg)
|
|
|
NM_001001557.4(GDF6):c.643T>C (p.Phe215Leu)
|
rs2130207617
|
|
NM_001001557.4(GDF6):c.682C>T (p.Gln228Ter)
|
|
|
NM_001001557.4(GDF6):c.684G>C (p.Gln228His)
|
rs1006833447
|
|
NM_001001557.4(GDF6):c.706G>T (p.Ala236Ser)
|
rs933957352
|
|
NM_001001557.4(GDF6):c.707C>T (p.Ala236Val)
|
rs781041300
|
|
NM_001001557.4(GDF6):c.715G>A (p.Glu239Lys)
|
|
|
NM_001001557.4(GDF6):c.719T>C (p.Leu240Pro)
|
|
|
NM_001001557.4(GDF6):c.724G>C (p.Ala242Pro)
|
|
|
NM_001001557.4(GDF6):c.725C>T (p.Ala242Val)
|
|
|
NM_001001557.4(GDF6):c.727G>T (p.Gly243Trp)
|
|
|
NM_001001557.4(GDF6):c.72G>A (p.Gln24=)
|
|
|
NM_001001557.4(GDF6):c.732G>C (p.Glu244Asp)
|
|
|
NM_001001557.4(GDF6):c.733G>A (p.Ala245Thr)
|
|
|
NM_001001557.4(GDF6):c.740C>A (p.Ala247Glu)
|
rs1228278989
|
|
NM_001001557.4(GDF6):c.741_742delinsAA (p.Arg248Ser)
|
rs2130207135
|
|
NM_001001557.4(GDF6):c.742C>T (p.Arg248Cys)
|
rs750809706
|
|
NM_001001557.4(GDF6):c.749G>C (p.Arg250Pro)
|
|
|
NM_001001557.4(GDF6):c.755C>G (p.Pro252Arg)
|
|
|
NM_001001557.4(GDF6):c.756C>T (p.Pro252=)
|
|
|
NM_001001557.4(GDF6):c.758A>G (p.Gln253Arg)
|
rs121909355
|
|
NM_001001557.4(GDF6):c.758A>T (p.Gln253Leu)
|
rs121909355
|
|
NM_001001557.4(GDF6):c.75G>A (p.Gln25=)
|
rs776298591
|
|
NM_001001557.4(GDF6):c.764C>A (p.Pro255Gln)
|
|
|
NM_001001557.4(GDF6):c.765G>T (p.Pro255=)
|
|
|
NM_001001557.4(GDF6):c.767C>T (p.Pro256Leu)
|
|
|
NM_001001557.4(GDF6):c.769C>T (p.Pro257Ser)
|
|
|
NM_001001557.4(GDF6):c.76G>C (p.Ala26Pro)
|
|
|
NM_001001557.4(GDF6):c.773C>G (p.Pro258Arg)
|
|
|
NM_001001557.4(GDF6):c.774G>C (p.Pro258=)
|
rs769581547
|
|
NM_001001557.4(GDF6):c.774G>T (p.Pro258=)
|
|
|
NM_001001557.4(GDF6):c.808C>T (p.Arg270Trp)
|
rs866273025
|
|
NM_001001557.4(GDF6):c.818A>G (p.Gln273Arg)
|
|
|
NM_001001557.4(GDF6):c.827C>G (p.Ala276Gly)
|
|
|
NM_001001557.4(GDF6):c.832C>T (p.Leu278=)
|
rs2130206656
|
|
NM_001001557.4(GDF6):c.83T>C (p.Ile28Thr)
|
rs2130238399
|
|
NM_001001557.4(GDF6):c.845C>G (p.Thr282Ser)
|
|
|
NM_001001557.4(GDF6):c.854A>T (p.Gln285Leu)
|
rs757715384
|
|
NM_001001557.4(GDF6):c.855G>C (p.Gln285His)
|
|
|
NM_001001557.4(GDF6):c.856C>T (p.Arg286Cys)
|
rs1303995573
|
|
NM_001001557.4(GDF6):c.861G>A (p.Lys287=)
|
|
|
NM_001001557.4(GDF6):c.870C>A (p.Phe290Leu)
|
rs765928590
|
|
NM_001001557.4(GDF6):c.870C>T (p.Phe290=)
|
rs765928590
|
|
NM_001001557.4(GDF6):c.880C>G (p.Arg294Gly)
|
|
|
NM_001001557.4(GDF6):c.881G>A (p.Arg294His)
|
rs2130206472
|
|
NM_001001557.4(GDF6):c.883G>A (p.Glu295Lys)
|
rs1451309614
|
|
NM_001001557.4(GDF6):c.897G>A (p.Ser299=)
|
|
|
NM_001001557.4(GDF6):c.897G>C (p.Ser299=)
|
|
|
NM_001001557.4(GDF6):c.903G>A (p.Glu301=)
|
rs2130206381
|
|
NM_001001557.4(GDF6):c.914C>A (p.Pro305Gln)
|
|
|
NM_001001557.4(GDF6):c.915G>A (p.Pro305=)
|
rs1399835264
|
|
NM_001001557.4(GDF6):c.915G>C (p.Pro305=)
|
|
|
NM_001001557.4(GDF6):c.920C>T (p.Ala307Val)
|
|
|
NM_001001557.4(GDF6):c.923_928dup (p.306GA[3])
|
rs1224736770
|
|
NM_001001557.4(GDF6):c.931G>A (p.Gly311Arg)
|
rs1812447441
|
|
NM_001001557.4(GDF6):c.932G>A (p.Gly311Glu)
|
|
|
NM_001001557.4(GDF6):c.942G>A (p.Pro314=)
|
|
|
NM_001001557.4(GDF6):c.946C>A (p.Pro316Thr)
|
|
|
NM_001001557.4(GDF6):c.950C>G (p.Ser317Trp)
|
|
|
NM_001001557.4(GDF6):c.950C>T (p.Ser317Leu)
|
|
|
NM_001001557.4(GDF6):c.951G>T (p.Ser317=)
|
|
|
NM_001001557.4(GDF6):c.955G>A (p.Ala319Thr)
|
rs779322747
|
|
NM_001001557.4(GDF6):c.958C>G (p.Pro320Ala)
|
|
|
NM_001001557.4(GDF6):c.960G>A (p.Pro320=)
|
|
|
NM_001001557.4(GDF6):c.962A>G (p.Asp321Gly)
|
rs376698111
|
|
NM_001001557.4(GDF6):c.96GTC[1] (p.Ser34del)
|
rs141468446
|
|
NM_001001557.4(GDF6):c.980C>A (p.Pro327His)
|
rs121909356
|
|
NM_001001557.4(GDF6):c.995G>A (p.Arg332Gln)
|
|
|
NM_001001557.4(GDF6):c.995G>T (p.Arg332Leu)
|
rs1812445302
|
|
NM_001001557.4(GDF6):c.996G>T (p.Arg332=)
|
|
|
NM_001001557.4(GDF6):c.996GCG[4] (p.Arg335dup)
|
rs762461479
|
|
NM_001080477.4(TENM3):c.1441G>A (p.Gly481Ser)
|
|
|
NM_001080477.4(TENM3):c.1558C>T (p.Arg520Ter)
|
rs919662130
|
|
NM_001080477.4(TENM3):c.2083dup (p.Thr695fs)
|
rs587776950
|
|
NM_001080477.4(TENM3):c.2279G>A (p.Trp760Ter)
|
rs2152678398
|
|
NM_001080477.4(TENM3):c.4046C>G (p.Ala1349Gly)
|
rs1243762658
|
|
NM_001080477.4(TENM3):c.4487G>A (p.Arg1496Gln)
|
|
|
NM_001080477.4(TENM3):c.4925C>T (p.Thr1642Met)
|
rs375567039
|
|
NM_001080477.4(TENM3):c.631A>G (p.Arg211Gly)
|
|
|
NM_001080477.4(TENM3):c.6605C>T (p.Thr2202Met)
|
|
|
NM_001080477.4(TENM3):c.749+4836T>G
|
|
|
NM_001080477.4(TENM3):c.7964A>G (p.Lys2655Arg)
|
|
|
NM_005689.4(ABCB6):c.1123C>T (p.Arg375Trp)
|
rs764893806
|
|
NM_005689.4(ABCB6):c.2431C>G (p.Leu811Val)
|
rs387906910
|
|
NM_006744.4(RBP4):c.217G>A (p.Ala73Thr)
|
rs794726862
|
|
NM_006744.4(RBP4):c.223G>A (p.Ala75Thr)
|
rs794726861
|
|
NM_006744.4(RBP4):c.356-25G>C
|
rs12265684
|
|
NM_006744.4(RBP4):c.569-1G>A
|
rs2058270689
|
|
NM_022369.4(STRA6):c.*141G>A
|
rs2072890902
|
|
NM_022369.4(STRA6):c.*582T>C
|
rs2072874635
|
|
NM_022369.4(STRA6):c.*72C>T
|
rs1029459207
|
|
NM_022369.4(STRA6):c.*89T>C
|
rs886051472
|
|
NM_022369.4(STRA6):c.-15-14G>T
|
rs757189393
|
|
NM_022369.4(STRA6):c.-15-167G>A
|
rs2074119629
|
|
NM_022369.4(STRA6):c.1027G>T (p.Val343Leu)
|
rs575928531
|
|
NM_022369.4(STRA6):c.1035C>T (p.Ser345=)
|
|
|
NM_022369.4(STRA6):c.1079G>T (p.Trp360Leu)
|
rs886051475
|
|
NM_022369.4(STRA6):c.113+3_113+4del
|
rs1555457882
|
|
NM_022369.4(STRA6):c.1167-18C>T
|
|
|
NM_022369.4(STRA6):c.1260G>C (p.Trp420Cys)
|
rs772736406
|
|
NM_022369.4(STRA6):c.1285G>C (p.Ala429Pro)
|
rs2142004122
|
|
NM_022369.4(STRA6):c.1301-6T>A
|
rs1367215268
|
|
NM_022369.4(STRA6):c.1418+10del
|
rs377631858
|
|
NM_022369.4(STRA6):c.1418+18T>G
|
rs2073034363
|
|
NM_022369.4(STRA6):c.1418+1_1418+3del
|
rs751838285
|
|
NM_022369.4(STRA6):c.1419-9C>A
|
rs1249326220
|
|
NM_022369.4(STRA6):c.147del (p.Gly50fs)
|
rs606231125
|
|
NM_022369.4(STRA6):c.1520+14T>C
|
rs200609080
|
|
NM_022369.4(STRA6):c.1565T>G (p.Val522Gly)
|
rs559042530
|
|
NM_022369.4(STRA6):c.1594C>T (p.Arg532Ter)
|
rs570214336
|
|
NM_022369.4(STRA6):c.1595G>T (p.Arg532Leu)
|
rs2072978576
|
|
NM_022369.4(STRA6):c.1605C>A (p.Leu535=)
|
rs141004067
|
|
NM_022369.4(STRA6):c.160G>T (p.Ala54Ser)
|
|
|
NM_022369.4(STRA6):c.1676dup (p.Asp560fs)
|
rs1567177198
|
|
NM_022369.4(STRA6):c.1678G>C (p.Asp560His)
|
rs397514638
|
|
NM_022369.4(STRA6):c.1685-15G>A
|
rs151148422
|
|
NM_022369.4(STRA6):c.181A>T (p.Ile61Phe)
|
rs1287605892
|
|
NM_022369.4(STRA6):c.1841-12C>T
|
|
|
NM_022369.4(STRA6):c.1871T>C (p.Met624Thr)
|
rs747368136
|
|
NM_022369.4(STRA6):c.1942A>C (p.Asn648His)
|
rs2072902264
|
|
NM_022369.4(STRA6):c.267-1G>T
|
rs773297007
|
|
NM_022369.4(STRA6):c.269C>T (p.Pro90Leu)
|
rs118203961
|
|
NM_022369.4(STRA6):c.347del (p.Leu116fs)
|
rs2073803030
|
|
NM_022369.4(STRA6):c.35_36dup (p.Gly13fs)
|
rs1555457919
|
|
NM_022369.4(STRA6):c.386_387delinsCA (p.Leu129Pro)
|
rs1567193252
|
|
NM_022369.4(STRA6):c.431-16T>C
|
|
|
NM_022369.4(STRA6):c.431-2A>G
|
rs759933321
|
|
NM_022369.4(STRA6):c.438G>A (p.Trp146Ter)
|
rs2073766224
|
|
NM_022369.4(STRA6):c.480T>G (p.Pro160=)
|
rs2142051141
|
|
NM_022369.4(STRA6):c.481del (p.Leu161fs)
|
rs2073763723
|
|
NM_022369.4(STRA6):c.498G>A (p.Thr166=)
|
|
|
NM_022369.4(STRA6):c.50_52delinsCC (p.Asp17fs)
|
rs606231126
|
|
NM_022369.4(STRA6):c.527dup (p.Ser177fs)
|
rs606231127
|
|
NM_022369.4(STRA6):c.597+6C>T
|
rs374631703
|
|
NM_022369.4(STRA6):c.597+7G>A
|
rs370713890
|
|
NM_022369.4(STRA6):c.608A>G (p.Tyr203Cys)
|
rs1595848874
|
|
NM_022369.4(STRA6):c.62dup (p.Ser22fs)
|
rs2074102664
|
|
NM_022369.4(STRA6):c.65G>C (p.Ser22Thr)
|
|
|
NM_022369.4(STRA6):c.785G>T (p.Ser262Ile)
|
rs1480965495
|
|
NM_022369.4(STRA6):c.794A>T (p.His265Leu)
|
|
|
NM_022369.4(STRA6):c.853A>T (p.Thr285Ser)
|
rs886051476
|
|
NM_022369.4(STRA6):c.865+7G>A
|
rs778564650
|
|
NM_022369.4(STRA6):c.910_911delinsAA (p.Gly304Lys)
|
rs151341424
|
|
NM_022369.4(STRA6):c.927+11C>A
|
|
|
NM_022369.4(STRA6):c.928-17C>T
|
|
|
NM_022369.4(STRA6):c.985del (p.Val329fs)
|
rs1595838712
|
|
NM_058238.3(WNT7B):c.225C>G (p.Tyr75Ter)
|
rs2146732713
|
|
NM_058238.3(WNT7B):c.292C>T (p.Arg98Ter)
|
rs1569119395
|
|
NM_058238.3(WNT7B):c.562G>A (p.Gly188Ser)
|
rs1158594747
|
|
NM_182894.3(VSX2):c.*1073G>A
|
rs2079311122
|
|
NM_182894.3(VSX2):c.*1161C>A
|
rs147524933
|
|
NM_182894.3(VSX2):c.*13T>G
|
rs886050739
|
|
NM_182894.3(VSX2):c.*1585A>C
|
rs6574170
|
|
NM_182894.3(VSX2):c.*1718T>C
|
rs2079316744
|
|
NM_182894.3(VSX2):c.*250C>G
|
rs144569223
|
|
NM_182894.3(VSX2):c.*602T>G
|
rs2079307817
|
|
NM_182894.3(VSX2):c.*641C>T
|
rs938559899
|
|
NM_182894.3(VSX2):c.*70C>T
|
rs138760799
|
|
NM_182894.3(VSX2):c.-46G>C
|
rs115662253
|
|
NM_182894.3(VSX2):c.-54G>A
|
rs565838448
|
|
NM_182894.3(VSX2):c.-68G>C
|
rs886050734
|
|
NM_182894.3(VSX2):c.306C>A (p.Ser102Arg)
|
rs886050737
|
|
NM_182894.3(VSX2):c.370+3A>G
|
rs2079138244
|
|
NM_182894.3(VSX2):c.533G>A (p.Arg178Gln)
|
rs886050738
|
|
NM_182894.3(VSX2):c.599G>C (p.Arg200Pro)
|
rs121912543
|
|
NM_182894.3(VSX2):c.649G>C (p.Ala217Pro)
|
rs2079290458
|
|
NM_182894.3(VSX2):c.760+11G>A
|
rs777886580
|
|
NM_182894.3(VSX2):c.777G>T (p.Ser259=)
|
rs371707151
|
|
NM_182894.3(VSX2):c.810C>G (p.Pro270=)
|
rs759166720
|
|
NM_182894.3(VSX2):c.874G>C (p.Ala292Pro)
|
rs766522793
|
|
NM_182894.3(VSX2):c.921G>T (p.Ala307=)
|
rs768286032
|
|