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_182894.3(VSX2):c.*1311G>A
|
rs114889622
|
0.00562
|
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_005689.4(ABCB6):c.575G>A (p.Arg192Gln)
|
rs150221689
|
0.00303
|
NM_182894.3(VSX2):c.*962G>T
|
rs367835329
|
0.00299
|
NM_182894.3(VSX2):c.*1565G>A
|
rs142543750
|
0.00242
|
NM_182894.3(VSX2):c.162C>A (p.Asp54Glu)
|
rs61747367
|
0.00226
|
NM_022369.4(STRA6):c.993G>A (p.Thr331=)
|
rs116753967
|
0.00205
|
NM_182894.3(VSX2):c.*11G>A
|
rs140814896
|
0.00193
|
NM_182894.3(VSX2):c.*250C>T
|
rs144569223
|
0.00148
|
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_182894.3(VSX2):c.699C>T (p.Pro233=)
|
rs141712104
|
0.00082
|
NM_022369.4(STRA6):c.*190C>T
|
rs191496909
|
0.00079
|
NM_182894.3(VSX2):c.939T>A (p.Ala313=)
|
rs372651860
|
0.00051
|
NM_022369.4(STRA6):c.388G>A (p.Ala130Thr)
|
rs141477248
|
0.00045
|
NM_182894.3(VSX2):c.171C>G (p.Ala57=)
|
rs201395979
|
0.00038
|
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_182894.3(VSX2):c.579G>A (p.Gln193=)
|
rs182972044
|
0.00024
|
NM_000193.4(SHH):c.1178C>G (p.Ala393Gly)
|
rs751239867
|
0.00023
|
NM_182894.3(VSX2):c.244G>A (p.Gly82Arg)
|
rs375294678
|
0.00021
|
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_022369.4(STRA6):c.*324C>T
|
rs757666088
|
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.878T>C (p.Met293Thr)
|
rs762304422
|
0.00014
|
NM_022369.4(STRA6):c.1970C>T (p.Thr657Met)
|
rs144043304
|
0.00013
|
NM_022369.4(STRA6):c.1242C>T (p.Arg414=)
|
rs568924861
|
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_182894.3(VSX2):c.564G>A (p.Pro188=)
|
rs201354547
|
0.00010
|
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.180A>G (p.Ser60=)
|
rs186185335
|
0.00008
|
NM_022369.4(STRA6):c.653T>C (p.Phe218Ser)
|
rs764331156
|
0.00008
|
NM_022369.4(STRA6):c.366C>T (p.Asp122=)
|
rs147428518
|
0.00007
|
NM_182894.3(VSX2):c.455+3G>T
|
rs374857946
|
0.00007
|
NM_001001557.4(GDF6):c.169G>C (p.Asp57His)
|
rs397514725
|
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_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.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_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.40A>G (p.Ile14Val)
|
rs773668867
|
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.1341G>A (p.Thr447=)
|
rs368073018
|
0.00004
|
NM_182894.3(VSX2):c.*10C>T
|
rs559868301
|
0.00004
|
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.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_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_001001557.4(GDF6):c.253C>T (p.Pro85Ser)
|
rs766458579
|
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.964G>A (p.Ala322Thr)
|
rs200317462
|
0.00002
|
NM_001080477.4(TENM3):c.1982A>G (p.Glu661Gly)
|
rs766092012
|
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.410G>A (p.Arg137Gln)
|
rs1387195672
|
0.00001
|
NM_001001557.4(GDF6):c.1106A>G (p.Asp369Gly)
|
rs774573217
|
0.00001
|
NM_001001557.4(GDF6):c.1237G>A (p.Gly413Ser)
|
rs984197099
|
0.00001
|
NM_001001557.4(GDF6):c.1310A>G (p.Asn437Ser)
|
rs376427985
|
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.305A>G (p.Tyr102Cys)
|
rs1204502085
|
0.00001
|
NM_001001557.4(GDF6):c.401G>A (p.Gly134Glu)
|
rs966679733
|
0.00001
|
NM_001001557.4(GDF6):c.416C>T (p.Ser139Leu)
|
rs1812463539
|
0.00001
|
NM_001001557.4(GDF6):c.554A>C (p.His185Pro)
|
rs763275206
|
0.00001
|
NM_001001557.4(GDF6):c.647A>G (p.Asp216Gly)
|
rs1812457627
|
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.82A>C (p.Ile28Leu)
|
rs760516509
|
0.00001
|
NM_001001557.4(GDF6):c.896C>T (p.Ser299Leu)
|
rs761634996
|
0.00001
|
NM_001001557.4(GDF6):c.954C>T (p.Gly318=)
|
rs1277401260
|
0.00001
|
NM_001080477.4(TENM3):c.8053G>A (p.Ala2685Thr)
|
rs761695007
|
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.1300+10C>T
|
rs940086112
|
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.1867T>G (p.Ser623Ala)
|
rs781757356
|
0.00001
|
NM_022369.4(STRA6):c.741T>G (p.Ser247=)
|
rs748339728
|
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.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_000965.5(RARB):c.1181A>G (p.Glu394Gly)
|
rs2125330280
|
|
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.158-1G>A
|
|
|
NM_000965.5(RARB):c.224dup (p.Arg76fs)
|
rs1695165531
|
|
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.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.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_001001557.4(GDF6):c.1001G>A (p.Arg334Gln)
|
|
|
NM_001001557.4(GDF6):c.1002_1003delinsAG (p.Arg335Gly)
|
rs1812445134
|
|
NM_001001557.4(GDF6):c.100T>C (p.Ser34Pro)
|
rs2130238372
|
|
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.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.1144C>T (p.His382Tyr)
|
rs2130205366
|
|
NM_001001557.4(GDF6):c.1145A>T (p.His382Leu)
|
|
|
NM_001001557.4(GDF6):c.1178C>T (p.Ser393Leu)
|
rs926947319
|
|
NM_001001557.4(GDF6):c.119C>T (p.Thr40Ile)
|
|
|
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.1244C>T (p.Thr415Ile)
|
rs1269055850
|
|
NM_001001557.4(GDF6):c.1268C>T (p.Thr423Ile)
|
rs769886732
|
|
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.1357G>A (p.Gly453Ser)
|
rs1178158158
|
|
NM_001001557.4(GDF6):c.136C>T (p.Arg46Cys)
|
|
|
NM_001001557.4(GDF6):c.158G>A (p.Arg53Gln)
|
|
|
NM_001001557.4(GDF6):c.184C>T (p.Arg62Trp)
|
|
|
NM_001001557.4(GDF6):c.209G>A (p.Arg70Gln)
|
|
|
NM_001001557.4(GDF6):c.212C>T (p.Pro71Leu)
|
|
|
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.251A>G (p.Glu84Gly)
|
|
|
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.283C>T (p.His95Tyr)
|
rs2130237638
|
|
NM_001001557.4(GDF6):c.286G>C (p.Glu96Gln)
|
|
|
NM_001001557.4(GDF6):c.298T>C (p.Ser100Pro)
|
rs2130237604
|
|
NM_001001557.4(GDF6):c.301A>G (p.Ile101Val)
|
|
|
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.332T>G (p.Leu111Arg)
|
|
|
NM_001001557.4(GDF6):c.348C>G (p.Ser116Arg)
|
|
|
NM_001001557.4(GDF6):c.362C>T (p.Ser121Phe)
|
rs772435568
|
|
NM_001001557.4(GDF6):c.365A>C (p.Lys122Thr)
|
rs2130237421
|
|
NM_001001557.4(GDF6):c.377C>T (p.Thr126Met)
|
rs536331514
|
|
NM_001001557.4(GDF6):c.413T>C (p.Leu138Pro)
|
rs2130208544
|
|
NM_001001557.4(GDF6):c.428T>C (p.Leu143Pro)
|
rs1812463179
|
|
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.481C>G (p.Leu161Val)
|
rs958381615
|
|
NM_001001557.4(GDF6):c.535C>A (p.Pro179Thr)
|
|
|
NM_001001557.4(GDF6):c.544G>A (p.Gly182Arg)
|
|
|
NM_001001557.4(GDF6):c.581C>A (p.Pro194His)
|
|
|
NM_001001557.4(GDF6):c.5A>G (p.Asp2Gly)
|
|
|
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.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.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.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.758A>G (p.Gln253Arg)
|
rs121909355
|
|
NM_001001557.4(GDF6):c.758A>T (p.Gln253Leu)
|
rs121909355
|
|
NM_001001557.4(GDF6):c.764C>A (p.Pro255Gln)
|
|
|
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.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.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.870C>A (p.Phe290Leu)
|
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.914C>A (p.Pro305Gln)
|
|
|
NM_001001557.4(GDF6):c.920C>T (p.Ala307Val)
|
|
|
NM_001001557.4(GDF6):c.931G>A (p.Gly311Arg)
|
rs1812447441
|
|
NM_001001557.4(GDF6):c.932G>A (p.Gly311Glu)
|
|
|
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.958C>G (p.Pro320Ala)
|
|
|
NM_001001557.4(GDF6):c.962A>G (p.Asp321Gly)
|
rs376698111
|
|
NM_001001557.4(GDF6):c.995G>A (p.Arg332Gln)
|
|
|
NM_001001557.4(GDF6):c.996GCG[4] (p.Arg335dup)
|
rs762461479
|
|
NM_001080477.4(TENM3):c.1441G>A (p.Gly481Ser)
|
|
|
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_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.1079G>T (p.Trp360Leu)
|
rs886051475
|
|
NM_022369.4(STRA6):c.1260G>C (p.Trp420Cys)
|
rs772736406
|
|
NM_022369.4(STRA6):c.1419-9C>A
|
rs1249326220
|
|
NM_022369.4(STRA6):c.1520+14T>C
|
rs200609080
|
|
NM_022369.4(STRA6):c.1565T>G (p.Val522Gly)
|
rs559042530
|
|
NM_022369.4(STRA6):c.1595G>T (p.Arg532Leu)
|
rs2072978576
|
|
NM_022369.4(STRA6):c.160G>T (p.Ala54Ser)
|
|
|
NM_022369.4(STRA6):c.181A>T (p.Ile61Phe)
|
rs1287605892
|
|
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.386_387delinsCA (p.Leu129Pro)
|
rs1567193252
|
|
NM_022369.4(STRA6):c.597+7G>A
|
rs370713890
|
|
NM_022369.4(STRA6):c.608A>G (p.Tyr203Cys)
|
rs1595848874
|
|
NM_022369.4(STRA6):c.65G>C (p.Ser22Thr)
|
|
|
NM_022369.4(STRA6):c.785G>T (p.Ser262Ile)
|
rs1480965495
|
|
NM_022369.4(STRA6):c.853A>T (p.Thr285Ser)
|
rs886051476
|
|
NM_022369.4(STRA6):c.865+7G>A
|
rs778564650
|
|
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.*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.-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.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
|
|