NM_182758.4(WDR72):c.298A>G (p.Met100Val)
|
rs690346
|
0.95957
|
NM_182758.4(WDR72):c.955-43C>A
|
rs690235
|
0.95246
|
NM_000228.3(LAMB3):c.823-15C>T
|
rs4844863
|
0.84219
|
NM_198488.5(FAM83H):c.1827C>T (p.Tyr609=)
|
rs13254035
|
0.81988
|
NM_000228.3(LAMB3):c.1716T>C (p.Cys572=)
|
rs2179402
|
0.74805
|
NM_182758.4(WDR72):c.339+9A>G
|
rs690337
|
0.73805
|
NM_017565.4(FAM20A):c.1589T>C (p.Leu530Ser)
|
rs2907373
|
0.72701
|
NM_005220.3(DLX3):c.*928A>G
|
rs12452477
|
0.72043
|
NM_004771.4(MMP20):c.53A>C (p.Lys18Thr)
|
rs2245803
|
0.64460
|
NM_198488.5(FAM83H):c.2884C>T (p.Leu962=)
|
rs11136321
|
0.60606
|
NM_182758.4(WDR72):c.1407T>C (p.Tyr469=)
|
rs6416452
|
0.59102
|
NM_000228.3(LAMB3):c.184-70A>G
|
rs2076357
|
0.57810
|
NM_000228.3(LAMB3):c.291A>C (p.Ser97=)
|
rs2076356
|
0.56410
|
NM_000228.3(LAMB3):c.3432A>G (p.Ser1144=)
|
rs1049607
|
0.44327
|
NM_004771.4(MMP20):c.824T>C (p.Val275Ala)
|
rs1784423
|
0.39994
|
NM_004771.4(MMP20):c.842C>A (p.Thr281Asn)
|
rs1784424
|
0.39948
|
NM_182758.4(WDR72):c.917C>T (p.Pro306Leu)
|
rs551225
|
0.37615
|
NM_000228.3(LAMB3):c.384C>T (p.Pro128=)
|
rs1130667
|
0.30741
|
NM_017565.4(FAM20A):c.996C>A (p.Asn332Lys)
|
rs2302234
|
0.30437
|
NM_000228.3(LAMB3):c.1976+169T>C
|
rs4844860
|
0.29396
|
NM_000228.3(LAMB3):c.298+50T>A
|
rs2076355
|
0.28812
|
NM_000228.3(LAMB3):c.2556+60C>T
|
rs3737913
|
0.27290
|
NM_000228.3(LAMB3):c.*102C>T
|
rs2566
|
0.27226
|
NM_005220.3(DLX3):c.-64C>T
|
rs2278163
|
0.26785
|
NM_000228.3(LAMB3):c.138C>T (p.Thr46=)
|
rs2228339
|
0.25110
|
NM_031889.3(ENAM):c.*687G>C
|
rs7665492
|
0.23393
|
NM_031889.3(ENAM):c.*264C>G
|
rs7664896
|
0.21636
|
NM_182758.4(WDR72):c.2455C>T (p.Leu819Phe)
|
rs17730281
|
0.21505
|
NM_031889.3(ENAM):c.-123G>A
|
rs1993579
|
0.21005
|
NM_005220.3(DLX3):c.402G>A (p.Thr134=)
|
rs2303466
|
0.18221
|
NM_005220.3(DLX3):c.516+23C>T
|
rs2303467
|
0.18199
|
NM_031889.3(ENAM):c.1943T>C (p.Ile648Thr)
|
rs7671281
|
0.17081
|
NM_031889.3(ENAM):c.*584A>T
|
rs7695611
|
0.13488
|
NM_031889.3(ENAM):c.*342T>C
|
rs7679569
|
0.13105
|
NM_031889.3(ENAM):c.*1512G>A
|
rs28703660
|
0.13103
|
NM_031889.3(ENAM):c.2288G>A (p.Arg763Gln)
|
rs3796704
|
0.13050
|
NM_000228.3(LAMB3):c.1579G>A (p.Val527Met)
|
rs2076349
|
0.12644
|
NM_000228.3(LAMB3):c.1486-18G>A
|
rs2076350
|
0.12625
|
NM_000228.3(LAMB3):c.1289-52G>A
|
rs2072938
|
0.12083
|
NM_000228.3(LAMB3):c.2673A>G (p.Leu891=)
|
rs3179860
|
0.11219
|
NM_000228.3(LAMB3):c.2554A>T (p.Met852Leu)
|
rs12748250
|
0.11215
|
NM_198488.5(FAM83H):c.1493C>T (p.Pro498Leu)
|
rs1137806
|
0.11038
|
NM_031889.3(ENAM):c.*1829G>A
|
rs76219814
|
0.09902
|
NM_005220.3(DLX3):c.*1326T>A
|
rs3803877
|
0.09111
|
NM_005220.3(DLX3):c.-134C>A
|
rs10459948
|
0.08249
|
NM_005220.3(DLX3):c.138C>T (p.Pro46=)
|
rs33937843
|
0.08182
|
NM_005220.3(DLX3):c.-189G>T
|
rs34783534
|
0.06775
|
NM_005220.3(DLX3):c.*1300C>G
|
rs3803878
|
0.06607
|
NM_005220.3(DLX3):c.*1016G>C
|
rs74607282
|
0.06204
|
NM_031889.3(ENAM):c.1726T>C (p.Phe576Leu)
|
rs2609428
|
0.04187
|
NM_031889.3(ENAM):c.*1799T>C
|
rs1055660
|
0.03953
|
NM_031889.3(ENAM):c.*1635G>C
|
rs73824820
|
0.03199
|
NM_017565.4(FAM20A):c.640+11T>C
|
rs8071830
|
0.02884
|
NM_000228.3(LAMB3):c.1764T>C (p.Tyr588=)
|
rs2229465
|
0.02743
|
NM_000228.3(LAMB3):c.2777C>A (p.Ala926Asp)
|
rs2076222
|
0.02691
|
NM_000228.3(LAMB3):c.2124T>C (p.Ser708=)
|
rs2072937
|
0.02665
|
NM_000228.3(LAMB3):c.2069A>G (p.Asn690Ser)
|
rs2229466
|
0.02614
|
NM_000228.3(LAMB3):c.564+10G>A
|
rs12410975
|
0.02306
|
NM_031889.3(ENAM):c.*1500G>A
|
rs72654391
|
0.02266
|
NM_004771.4(MMP20):c.810C>T (p.Tyr270=)
|
rs11225343
|
0.02179
|
NM_005220.3(DLX3):c.*494A>G
|
rs78617063
|
0.02070
|
NM_031889.3(ENAM):c.*936T>A
|
rs115766831
|
0.02004
|
NM_005220.3(DLX3):c.*679C>T
|
rs77798106
|
0.01827
|
NM_016519.6(AMBN):c.882C>A (p.His294Gln)
|
rs113506649
|
0.01779
|
NM_031889.3(ENAM):c.1926C>T (p.Thr642=)
|
rs6813313
|
0.01562
|
NM_182758.4(WDR72):c.1195A>C (p.Lys399Gln)
|
rs35258188
|
0.01531
|
NM_182758.4(WDR72):c.*2081C>T
|
rs74015391
|
0.01510
|
NM_017565.4(FAM20A):c.928+16G>A
|
rs16973042
|
0.01441
|
NM_031889.3(ENAM):c.2171C>T (p.Pro724Leu)
|
rs3796703
|
0.01388
|
NM_017565.4(FAM20A):c.18G>A (p.Arg6=)
|
rs75228334
|
0.01179
|
NM_182758.4(WDR72):c.1839G>A (p.Val613=)
|
rs78493456
|
0.01140
|
NM_182758.4(WDR72):c.1437A>C (p.Gln479His)
|
rs34123953
|
0.01023
|
NM_031889.3(ENAM):c.177G>T (p.Arg59=)
|
rs2609429
|
0.01011
|
NM_031889.3(ENAM):c.1165G>A (p.Gly389Ser)
|
rs74511578
|
0.01007
|
NM_182758.4(WDR72):c.857+9A>C
|
rs139139066
|
0.00974
|
NM_182758.4(WDR72):c.*588G>A
|
rs140879069
|
0.00936
|
NM_182758.4(WDR72):c.*3575T>C
|
rs193055203
|
0.00834
|
NM_182758.4(WDR72):c.*3433G>A
|
rs13329257
|
0.00827
|
NM_005220.3(DLX3):c.582G>A (p.Pro194=)
|
rs11868203
|
0.00824
|
NM_004771.4(MMP20):c.505A>C (p.Ile169Leu)
|
rs17099008
|
0.00801
|
NM_031889.3(ENAM):c.3320G>A (p.Ser1107Asn)
|
rs71599965
|
0.00757
|
NM_182758.4(WDR72):c.*3325G>A
|
rs74015387
|
0.00744
|
NM_004771.4(MMP20):c.415G>A (p.Asp139Asn)
|
rs17099014
|
0.00724
|
NM_004771.4(MMP20):c.870A>T (p.Pro290=)
|
rs17098831
|
0.00615
|
NM_182758.4(WDR72):c.*3592A>G
|
rs111488180
|
0.00592
|
NM_182758.4(WDR72):c.*852G>A
|
rs112576390
|
0.00577
|
NM_182758.4(WDR72):c.*2947A>T
|
rs74015388
|
0.00572
|
NM_182758.4(WDR72):c.*647G>A
|
rs78618140
|
0.00478
|
NM_004771.4(MMP20):c.92C>T (p.Pro31Leu)
|
rs61730847
|
0.00465
|
NM_182758.4(WDR72):c.2598A>G (p.Lys866=)
|
rs115484883
|
0.00442
|
NM_004771.4(MMP20):c.1313G>C (p.Gly438Ala)
|
rs61753770
|
0.00414
|
NM_005220.3(DLX3):c.*986C>T
|
rs113406148
|
0.00384
|
NM_000888.5(ITGB6):c.1312G>A (p.Val438Met)
|
rs61737764
|
0.00345
|
NM_031889.3(ENAM):c.1396G>A (p.Val466Ile)
|
rs148712673
|
0.00340
|
NM_005220.3(DLX3):c.*527G>A
|
rs188986974
|
0.00290
|
NM_182758.4(WDR72):c.1569+7C>T
|
rs138465897
|
0.00285
|
NM_182758.4(WDR72):c.*3511A>G
|
rs143131142
|
0.00274
|
NM_005562.3(LAMC2):c.493C>T (p.Arg165Cys)
|
rs142335339
|
0.00261
|
NM_017565.4(FAM20A):c.444C>T (p.Ser148=)
|
rs139743735
|
0.00235
|
NM_005220.3(DLX3):c.*1335C>T
|
rs529185809
|
0.00228
|
NM_004771.4(MMP20):c.954-2A>T
|
rs140213840
|
0.00224
|
NM_004771.4(MMP20):c.274A>G (p.Met92Val)
|
rs61730848
|
0.00223
|
NM_182758.4(WDR72):c.99G>T (p.Val33=)
|
rs144767107
|
0.00222
|
NM_005220.3(DLX3):c.*1410G>A
|
rs564135525
|
0.00206
|
NM_031889.3(ENAM):c.*1797G>A
|
rs114352676
|
0.00186
|
NM_198488.5(FAM83H):c.1669G>T (p.Gly557Cys)
|
rs312262803
|
0.00183
|
NM_004771.4(MMP20):c.389C>T (p.Thr130Ile)
|
rs61730849
|
0.00180
|
NM_005220.3(DLX3):c.710A>G (p.Tyr237Cys)
|
rs142563930
|
0.00179
|
NM_031889.3(ENAM):c.1181A>T (p.Tyr394Phe)
|
rs142747446
|
0.00177
|
NM_004771.4(MMP20):c.1136C>T (p.Pro379Leu)
|
rs149589493
|
0.00172
|
NM_000094.4(COL7A1):c.3605G>A (p.Arg1202His)
|
rs149011081
|
0.00166
|
NM_004771.4(MMP20):c.910G>A (p.Ala304Thr)
|
rs148818720
|
0.00153
|
NM_182758.4(WDR72):c.*1936A>G
|
rs148744855
|
0.00138
|
NM_182758.4(WDR72):c.*33C>T
|
rs145549474
|
0.00138
|
NM_031889.3(ENAM):c.3072T>C (p.Pro1024=)
|
rs138729240
|
0.00131
|
NM_152222.2(RELT):c.1264C>T (p.Arg422Trp)
|
rs139368769
|
0.00108
|
NM_182758.4(WDR72):c.*2521A>G
|
rs188128535
|
0.00101
|
NM_182758.4(WDR72):c.*3689A>G
|
rs74871423
|
0.00094
|
NM_004771.4(MMP20):c.383A>C (p.Lys128Thr)
|
rs61753771
|
0.00090
|
NM_004771.4(MMP20):c.723A>G (p.Ser241=)
|
rs139717539
|
0.00081
|
NM_182758.4(WDR72):c.*1853A>G
|
rs572582132
|
0.00071
|
NM_004917.5(KLK4):c.458G>A (p.Trp153Ter)
|
rs104894704
|
0.00068
|
NM_005220.3(DLX3):c.832G>A (p.Gly278Arg)
|
rs151180891
|
0.00067
|
NM_005220.3(DLX3):c.*1296G>A
|
rs117813438
|
0.00066
|
NM_031889.3(ENAM):c.*256G>A
|
rs117342040
|
0.00061
|
NM_005220.3(DLX3):c.82G>T (p.Asp28Tyr)
|
rs147702169
|
0.00058
|
NM_031889.3(ENAM):c.*1115C>G
|
rs780401016
|
0.00057
|
NM_005220.3(DLX3):c.*707C>T
|
rs185357085
|
0.00056
|
NM_017565.4(FAM20A):c.1314C>T (p.His438=)
|
rs78050433
|
0.00053
|
NM_182758.4(WDR72):c.2942A>G (p.Gln981Arg)
|
rs188590145
|
0.00053
|
NM_182758.4(WDR72):c.2741T>C (p.Leu914Ser)
|
rs146698292
|
0.00051
|
NM_000228.3(LAMB3):c.1903C>T (p.Arg635Ter)
|
rs80356682
|
0.00049
|
NM_182758.4(WDR72):c.*3225T>G
|
rs137867992
|
0.00044
|
NM_005220.3(DLX3):c.*868C>T
|
rs540375923
|
0.00043
|
NM_005220.3(DLX3):c.-135C>T
|
rs532523216
|
0.00043
|
NM_005220.3(DLX3):c.*1272T>C
|
rs192378506
|
0.00042
|
NM_031889.3(ENAM):c.2205T>C (p.Ser735=)
|
rs144225109
|
0.00042
|
NM_031889.3(ENAM):c.*884A>G
|
rs193199459
|
0.00039
|
NM_031889.3(ENAM):c.*1374A>G
|
rs576147094
|
0.00037
|
NM_182758.4(WDR72):c.2444G>A (p.Cys815Tyr)
|
rs369011394
|
0.00037
|
NM_005220.3(DLX3):c.*437G>A
|
rs111413176
|
0.00034
|
NM_182758.4(WDR72):c.*2390C>A
|
rs536634979
|
0.00034
|
NM_017565.4(FAM20A):c.467G>A (p.Arg156Gln)
|
rs146809464
|
0.00033
|
NM_182758.4(WDR72):c.93G>C (p.Thr31=)
|
rs148643501
|
0.00032
|
NM_004771.4(MMP20):c.254G>A (p.Gly85Glu)
|
rs200482846
|
0.00031
|
NM_017565.4(FAM20A):c.513T>C (p.His171=)
|
rs181817943
|
0.00030
|
NM_182758.4(WDR72):c.*2648C>T
|
rs1051072411
|
0.00030
|
NM_005220.3(DLX3):c.*60G>A
|
rs3744540
|
0.00029
|
NM_005220.3(DLX3):c.-37C>G
|
rs375929276
|
0.00029
|
NM_031889.3(ENAM):c.*1079G>A
|
rs539454338
|
0.00029
|
NM_031889.3(ENAM):c.2994G>T (p.Leu998=)
|
rs148122591
|
0.00029
|
NM_031889.3(ENAM):c.263A>G (p.Gln88Arg)
|
rs565258194
|
0.00028
|
NM_182758.4(WDR72):c.*2620C>T
|
rs971592308
|
0.00028
|
NM_182758.4(WDR72):c.*2593G>T
|
rs28620845
|
0.00027
|
NM_004771.4(MMP20):c.453C>T (p.Ser151=)
|
rs143965716
|
0.00026
|
NM_005220.3(DLX3):c.*726T>C
|
rs190429946
|
0.00026
|
NM_182758.4(WDR72):c.*2215G>A
|
rs542885153
|
0.00026
|
NM_005220.3(DLX3):c.90T>C (p.Pro30=)
|
rs145424773
|
0.00025
|
NM_004771.4(MMP20):c.1422G>A (p.Val474=)
|
rs373697258
|
0.00024
|
NM_005220.3(DLX3):c.736G>C (p.Asp246His)
|
rs3744539
|
0.00023
|
NM_017565.4(FAM20A):c.440C>T (p.Thr147Ile)
|
rs145784842
|
0.00023
|
NM_031889.3(ENAM):c.3277C>T (p.Pro1093Ser)
|
rs35951442
|
0.00022
|
NM_182758.4(WDR72):c.592-8T>C
|
rs199973374
|
0.00022
|
NM_005220.3(DLX3):c.*988G>A
|
rs555823151
|
0.00021
|
NM_005220.3(DLX3):c.-190C>T
|
rs886053136
|
0.00021
|
NM_182758.4(WDR72):c.*1470T>C
|
rs886051294
|
0.00021
|
NM_182758.4(WDR72):c.*2504T>G
|
rs776855982
|
0.00021
|
NM_005220.3(DLX3):c.-121C>T
|
rs756924776
|
0.00020
|
NM_017565.4(FAM20A):c.43C>T (p.Leu15=)
|
rs372862593
|
0.00020
|
NM_017565.4(FAM20A):c.527G>A (p.Arg176Gln)
|
rs140917285
|
0.00019
|
NM_031889.3(ENAM):c.*1143G>A
|
rs755589473
|
0.00019
|
NM_182758.4(WDR72):c.2357T>G (p.Val786Gly)
|
rs150548151
|
0.00019
|
NM_182758.4(WDR72):c.363G>A (p.Met121Ile)
|
rs140373011
|
0.00019
|
NM_031889.3(ENAM):c.1259_1260insAG (p.Pro422fs)
|
rs587776588
|
0.00018
|
NM_031889.3(ENAM):c.2315C>A (p.Ala772Asp)
|
rs144070672
|
0.00018
|
NM_031889.3(ENAM):c.*1241C>A
|
rs556213549
|
0.00017
|
NM_004771.4(MMP20):c.372C>T (p.Tyr124=)
|
rs143362660
|
0.00016
|
NM_005220.3(DLX3):c.*723T>G
|
rs182361413
|
0.00016
|
NM_017565.4(FAM20A):c.1175G>A (p.Arg392Gln)
|
rs376802484
|
0.00016
|
NM_031889.3(ENAM):c.233T>C (p.Phe78Ser)
|
rs202231676
|
0.00016
|
NM_182758.4(WDR72):c.*1006A>G
|
rs758330355
|
0.00016
|
NM_182758.4(WDR72):c.*1527A>G
|
rs543611189
|
0.00016
|
NM_000228.3(LAMB3):c.2963G>A (p.Arg988Gln)
|
rs142912342
|
0.00015
|
NM_017565.4(FAM20A):c.1472C>T (p.Thr491Ile)
|
rs182816928
|
0.00015
|
NM_182758.4(WDR72):c.3162G>A (p.Pro1054=)
|
rs143842578
|
0.00015
|
NM_004771.4(MMP20):c.1219C>T (p.Leu407Phe)
|
rs150191942
|
0.00014
|
NM_005220.3(DLX3):c.*1328T>G
|
rs568427405
|
0.00014
|
NM_017565.4(FAM20A):c.5C>T (p.Pro2Leu)
|
rs528874230
|
0.00014
|
NM_017565.4(FAM20A):c.792C>T (p.Ile264=)
|
rs139591838
|
0.00014
|
NM_031889.3(ENAM):c.2172G>A (p.Pro724=)
|
rs149573021
|
0.00014
|
NM_004771.4(MMP20):c.757C>T (p.Pro253Ser)
|
rs138853084
|
0.00013
|
NM_031889.3(ENAM):c.637C>T (p.Pro213Ser)
|
rs369065889
|
0.00013
|
NM_182758.4(WDR72):c.*356T>C
|
rs192271514
|
0.00013
|
NM_182758.4(WDR72):c.3253+3G>A
|
rs369105806
|
0.00013
|
NM_031889.3(ENAM):c.1893G>A (p.Gly631=)
|
rs143023982
|
0.00012
|
NM_016519.6(AMBN):c.209C>G (p.Ser70Ter)
|
rs146148316
|
0.00011
|
NM_017565.4(FAM20A):c.404+18G>A
|
rs773191671
|
0.00011
|
NM_017565.4(FAM20A):c.984T>C (p.Ala328=)
|
rs374633547
|
0.00011
|
NM_031889.3(ENAM):c.*518A>G
|
rs1025272194
|
0.00011
|
NM_031889.3(ENAM):c.-60-4T>A
|
rs182835987
|
0.00011
|
NM_031889.3(ENAM):c.2397G>T (p.Arg799Ser)
|
rs775159311
|
0.00011
|
NM_031889.3(ENAM):c.2736C>T (p.Asp912=)
|
rs143333113
|
0.00011
|
NM_033068.3(ACP4):c.331C>T (p.Arg111Cys)
|
rs202073531
|
0.00011
|
NM_182758.4(WDR72):c.*1866A>G
|
rs143667387
|
0.00011
|
NM_182758.4(WDR72):c.*3459C>T
|
rs935827680
|
0.00011
|
NM_182758.4(WDR72):c.1549A>G (p.Met517Val)
|
rs200748257
|
0.00011
|
NM_000494.4(COL17A1):c.3277+1G>A
|
rs199527325
|
0.00010
|
NM_000888.5(ITGB6):c.427G>A (p.Ala143Thr)
|
rs140015315
|
0.00010
|
NM_017565.4(FAM20A):c.406C>T (p.Arg136Ter)
|
rs144411158
|
0.00010
|
NM_031889.3(ENAM):c.*605T>C
|
rs886059591
|
0.00010
|
NM_182758.4(WDR72):c.*2642T>C
|
rs1001148159
|
0.00010
|
NM_004771.4(MMP20):c.103A>C (p.Arg35=)
|
rs61751462
|
0.00009
|
NM_005220.3(DLX3):c.*259C>A
|
rs190141435
|
0.00009
|
NM_182758.4(WDR72):c.*1764T>G
|
rs576208075
|
0.00009
|
NM_182758.4(WDR72):c.*2671G>C
|
rs184165819
|
0.00009
|
NM_182758.4(WDR72):c.*475T>G
|
rs964345350
|
0.00009
|
NM_005220.3(DLX3):c.-225G>A
|
rs546133632
|
0.00008
|
NM_031889.3(ENAM):c.539T>C (p.Leu180Ser)
|
rs367993395
|
0.00008
|
NM_182758.4(WDR72):c.737T>G (p.Leu246Arg)
|
rs370145481
|
0.00008
|
NM_004771.4(MMP20):c.855C>A (p.Ala285=)
|
rs768882792
|
0.00007
|
NM_005220.3(DLX3):c.*1164A>G
|
rs1024414003
|
0.00007
|
NM_005220.3(DLX3):c.*548C>T
|
rs997326806
|
0.00007
|
NM_017565.4(FAM20A):c.321G>C (p.Pro107=)
|
rs568029338
|
0.00007
|
NM_031889.3(ENAM):c.1656C>G (p.Ile552Met)
|
rs145361338
|
0.00007
|
NM_182758.4(WDR72):c.*3852T>G
|
rs886051277
|
0.00007
|
NM_000228.3(LAMB3):c.124C>T (p.Arg42Ter)
|
rs80356680
|
0.00006
|
NM_004771.4(MMP20):c.102G>A (p.Trp34Ter)
|
rs587777516
|
0.00006
|
NM_004771.4(MMP20):c.808T>C (p.Tyr270His)
|
rs778890652
|
0.00006
|
NM_005220.3(DLX3):c.798G>A (p.Pro266=)
|
rs569475772
|
0.00006
|
NM_017565.4(FAM20A):c.342C>T (p.Asp114=)
|
rs778101746
|
0.00006
|
NM_031889.3(ENAM):c.*156G>A
|
rs886059587
|
0.00006
|
NM_031889.3(ENAM):c.1103G>A (p.Arg368His)
|
rs780933451
|
0.00006
|
NM_031889.3(ENAM):c.332A>C (p.Lys111Thr)
|
rs532584416
|
0.00006
|
NM_031889.3(ENAM):c.3400G>T (p.Val1134Leu)
|
rs200396980
|
0.00006
|
NM_182758.4(WDR72):c.*1325T>C
|
rs758752529
|
0.00006
|
NM_182758.4(WDR72):c.*1896T>A
|
rs928204245
|
0.00006
|
NM_182758.4(WDR72):c.*898A>G
|
rs886051296
|
0.00006
|
NM_182758.4(WDR72):c.*956G>A
|
rs1469621117
|
0.00006
|
NM_182758.4(WDR72):c.*3650A>G
|
rs886051278
|
0.00005
|
NM_000228.3(LAMB3):c.2632C>T (p.Arg878Cys)
|
rs199946321
|
0.00004
|
NM_004577.4(PSPH):c.398A>G (p.Asn133Ser)
|
rs148469975
|
0.00004
|
NM_004771.4(MMP20):c.1053C>T (p.Tyr351=)
|
rs752244634
|
0.00004
|
NM_004771.4(MMP20):c.1108A>G (p.Thr370Ala)
|
rs774909387
|
0.00004
|
NM_004771.4(MMP20):c.375-11C>T
|
rs538004005
|
0.00004
|
NM_005220.3(DLX3):c.*1252C>G
|
rs3803879
|
0.00004
|
NM_005220.3(DLX3):c.140A>G (p.Gln47Arg)
|
rs773002632
|
0.00004
|
NM_005220.3(DLX3):c.698C>T (p.Pro233Leu)
|
rs146899668
|
0.00004
|
NM_017565.4(FAM20A):c.13C>A (p.Arg5Ser)
|
rs766476867
|
0.00004
|
NM_031889.3(ENAM):c.*1528C>T
|
rs141963911
|
0.00004
|
NM_031889.3(ENAM):c.888C>T (p.Asn296=)
|
rs778224567
|
0.00004
|
NM_033068.3(ACP4):c.226C>T (p.Arg76Cys)
|
rs1057519277
|
0.00004
|
NM_152222.2(RELT):c.1169_1170del (p.Pro390fs)
|
rs772929908
|
0.00004
|
NM_178497.3(C4orf26):c.318G>A
|
rs146645381
|
0.00004
|
NM_182758.4(WDR72):c.*1172A>G
|
rs1038976295
|
0.00004
|
NM_182758.4(WDR72):c.*2137T>G
|
rs1335888154
|
0.00004
|
NM_182758.4(WDR72):c.*3126T>C
|
rs372563214
|
0.00004
|
NM_182758.4(WDR72):c.*3691G>T
|
rs75272713
|
0.00004
|
NM_182758.4(WDR72):c.1111G>T (p.Val371Leu)
|
rs200333070
|
0.00004
|
NM_182758.4(WDR72):c.739C>T (p.Leu247=)
|
rs779467417
|
0.00004
|
NM_000228.3(LAMB3):c.2914C>T (p.Arg972Ter)
|
rs747916314
|
0.00003
|
NM_004771.4(MMP20):c.183T>C (p.Val61=)
|
rs778944042
|
0.00003
|
NM_004771.4(MMP20):c.454G>A (p.Ala152Thr)
|
rs370166894
|
0.00003
|
NM_005220.3(DLX3):c.*75G>A
|
rs1051660674
|
0.00003
|
NM_017565.4(FAM20A):c.813-2A>G
|
rs587776912
|
0.00003
|
NM_031889.3(ENAM):c.1289A>G (p.Asn430Ser)
|
rs769265756
|
0.00003
|
NM_031889.3(ENAM):c.588G>C (p.Gly196=)
|
rs762381494
|
0.00003
|
NM_031889.3(ENAM):c.632G>A (p.Arg211His)
|
rs200521750
|
0.00003
|
NM_031889.3(ENAM):c.871C>T (p.Pro291Ser)
|
rs752076298
|
0.00003
|
NM_033068.3(ACP4):c.428C>T (p.Thr143Met)
|
rs546603773
|
0.00003
|
NM_182758.4(WDR72):c.*3810T>A
|
rs551905947
|
0.00003
|
NM_182758.4(WDR72):c.*723C>T
|
rs552516569
|
0.00003
|
NM_182758.4(WDR72):c.*913G>C
|
rs188922992
|
0.00003
|
NM_182758.4(WDR72):c.127C>T (p.Leu43Phe)
|
rs1009489505
|
0.00003
|
NM_182758.4(WDR72):c.1467_1468del (p.Val491fs)
|
rs606231462
|
0.00003
|
NM_000228.3(LAMB3):c.1132+5G>A
|
rs770302956
|
0.00002
|
NM_000228.3(LAMB3):c.463dup (p.Ser155fs)
|
rs776537364
|
0.00002
|
NM_000888.5(ITGB6):c.1846C>T (p.Arg616Ter)
|
rs730880297
|
0.00002
|
NM_004771.4(MMP20):c.66A>G (p.Ala22=)
|
rs144554695
|
0.00002
|
NM_005220.3(DLX3):c.636A>G (p.Ser212=)
|
rs759832786
|
0.00002
|
NM_033068.3(ACP4):c.382G>C (p.Ala128Pro)
|
rs767907487
|
0.00002
|
NM_182758.4(WDR72):c.*2360C>T
|
rs886051290
|
0.00002
|
NM_182758.4(WDR72):c.*2650T>C
|
rs933412158
|
0.00002
|
NM_182758.4(WDR72):c.*2955A>G
|
rs879270279
|
0.00002
|
NM_182758.4(WDR72):c.*3734A>G
|
rs371978233
|
0.00002
|
NM_182758.4(WDR72):c.1476C>A (p.Ile492=)
|
rs199536228
|
0.00002
|
NM_182758.4(WDR72):c.2985G>A (p.Ala995=)
|
rs745403939
|
0.00002
|
NM_000228.3(LAMB3):c.2397A>G (p.Ile799Met)
|
rs114544692
|
0.00001
|
NM_000494.4(COL17A1):c.460C>T (p.Arg154Ter)
|
rs1564685400
|
0.00001
|
NM_001142.2(AMELX):c.131G>A (p.Ser44Asn)
|
rs431825177
|
0.00001
|
NM_004771.4(MMP20):c.*427A>T
|
rs2292729
|
0.00001
|
NM_004771.4(MMP20):c.*481A>G
|
rs1269175482
|
0.00001
|
NM_004771.4(MMP20):c.127-14C>A
|
rs375856007
|
0.00001
|
NM_004771.4(MMP20):c.1296T>C (p.Thr432=)
|
rs1303032939
|
0.00001
|
NM_004771.4(MMP20):c.1366T>C (p.Phe456Leu)
|
rs768247344
|
0.00001
|
NM_004771.4(MMP20):c.1424T>C (p.Val475Ala)
|
rs751829476
|
0.00001
|
NM_004771.4(MMP20):c.375-10G>A
|
rs781268807
|
0.00001
|
NM_004771.4(MMP20):c.67G>A (p.Ala23Thr)
|
rs762774990
|
0.00001
|
NM_004771.4(MMP20):c.711C>T (p.Ser237=)
|
rs779994078
|
0.00001
|
NM_004917.5(KLK4):c.632del (p.Leu211fs)
|
rs556734208
|
0.00001
|
NM_004917.5(KLK4):c.637T>C (p.Cys213Arg)
|
rs1266288524
|
0.00001
|
NM_005220.3(DLX3):c.*124C>A
|
rs886053133
|
0.00001
|
NM_005220.3(DLX3):c.*429C>G
|
rs1358552045
|
0.00001
|
NM_005220.3(DLX3):c.*812G>A
|
rs1906056965
|
0.00001
|
NM_005220.3(DLX3):c.*821C>A
|
rs886053131
|
0.00001
|
NM_005220.3(DLX3):c.-62C>A
|
rs1489241968
|
0.00001
|
NM_005220.3(DLX3):c.326-15G>T
|
rs778835890
|
0.00001
|
NM_017565.4(FAM20A):c.826C>T (p.Arg276Ter)
|
rs387907215
|
0.00001
|
NM_031889.3(ENAM):c.*1565A>C
|
rs920214074
|
0.00001
|
NM_031889.3(ENAM):c.*222A>G
|
rs1161162098
|
0.00001
|
NM_031889.3(ENAM):c.*69T>A
|
rs886059586
|
0.00001
|
NM_031889.3(ENAM):c.-45A>G
|
rs748261893
|
0.00001
|
NM_031889.3(ENAM):c.1080G>A (p.Arg360=)
|
rs765775414
|
0.00001
|
NM_031889.3(ENAM):c.1265C>G (p.Pro422Arg)
|
rs777996409
|
0.00001
|
NM_031889.3(ENAM):c.1827G>A (p.Arg609=)
|
rs375265900
|
0.00001
|
NM_031889.3(ENAM):c.2573C>T (p.Ser858Leu)
|
rs774203624
|
0.00001
|
NM_031889.3(ENAM):c.2686T>A (p.Tyr896Asn)
|
rs754676479
|
0.00001
|
NM_031889.3(ENAM):c.2688T>A (p.Tyr896Ter)
|
rs778381344
|
0.00001
|
NM_031889.3(ENAM):c.2816G>A (p.Arg939Lys)
|
rs752376600
|
0.00001
|
NM_031889.3(ENAM):c.2979T>C (p.Asp993=)
|
rs747440840
|
0.00001
|
NM_031889.3(ENAM):c.2998C>G (p.Gln1000Glu)
|
rs886059585
|
0.00001
|
NM_031889.3(ENAM):c.3007G>A (p.Glu1003Lys)
|
rs775162070
|
0.00001
|
NM_031889.3(ENAM):c.899A>G (p.Gln300Arg)
|
rs886059583
|
0.00001
|
NM_031889.3(ENAM):c.950G>A (p.Arg317His)
|
rs373870116
|
0.00001
|
NM_033068.3(ACP4):c.397G>A (p.Glu133Lys)
|
rs779823931
|
0.00001
|
NM_033068.3(ACP4):c.713C>T (p.Ser238Leu)
|
rs763573828
|
0.00001
|
NM_153646.4(SLC24A4):c.1015C>T (p.Arg339Ter)
|
rs587777535
|
0.00001
|
NM_178497.5(ODAPH):c.229C>T (p.Arg77Ter)
|
rs866941536
|
0.00001
|
NM_182758.4(WDR72):c.*1014T>C
|
rs577502386
|
0.00001
|
NM_182758.4(WDR72):c.*1350A>T
|
rs372471720
|
0.00001
|
NM_182758.4(WDR72):c.*1620C>T
|
rs928121087
|
0.00001
|
NM_182758.4(WDR72):c.*179A>G
|
rs886051297
|
0.00001
|
NM_182758.4(WDR72):c.*2785G>A
|
rs531740269
|
0.00001
|
NM_182758.4(WDR72):c.*3016G>A
|
rs1365667800
|
0.00001
|
NM_182758.4(WDR72):c.*3128G>A
|
rs575286357
|
0.00001
|
NM_182758.4(WDR72):c.*497C>T
|
rs769215874
|
0.00001
|
NM_182758.4(WDR72):c.*640T>C
|
rs1281123577
|
0.00001
|
NM_182758.4(WDR72):c.1207G>A (p.Gly403Arg)
|
rs886051301
|
0.00001
|
NM_182758.4(WDR72):c.1529G>A (p.Gly510Asp)
|
rs748269156
|
0.00001
|
NM_182758.4(WDR72):c.153+14A>C
|
rs529865673
|
0.00001
|
NM_182758.4(WDR72):c.1574G>A (p.Arg525Lys)
|
rs777274290
|
0.00001
|
NM_182758.4(WDR72):c.1678G>A (p.Val560Met)
|
rs369193227
|
0.00001
|
NM_182758.4(WDR72):c.1963-10G>A
|
rs2013763075
|
0.00001
|
NM_182758.4(WDR72):c.2686C>T (p.Arg896Ter)
|
rs557128345
|
0.00001
|
NM_182758.4(WDR72):c.2707T>G (p.Tyr903Asp)
|
rs750256834
|
0.00001
|
NM_182758.4(WDR72):c.408C>T (p.Val136=)
|
rs886051303
|
0.00001
|
NM_182758.4(WDR72):c.957A>T (p.Glu319Asp)
|
rs1029083427
|
0.00001
|
NM_000094.4(COL7A1):c.2440+3A>C
|
|
|
NM_000094.4(COL7A1):c.3785T>C (p.Met1262Thr)
|
|
|
NM_000228.3(LAMB3):c.-72C>A
|
rs543183724
|
|
NM_000228.3(LAMB3):c.1017T>G (p.Tyr339Ter)
|
rs774174881
|
|
NM_000228.3(LAMB3):c.1288+1G>T
|
rs1186161867
|
|
NM_000228.3(LAMB3):c.1289-186G>A
|
rs61822212
|
|
NM_000228.3(LAMB3):c.1423G>A (p.Gly475Ser)
|
|
|
NM_000228.3(LAMB3):c.2842del (p.Val948fs)
|
rs772421306
|
|
NM_000228.3(LAMB3):c.2926del (p.Val976fs)
|
|
|
NM_000228.3(LAMB3):c.2962C>T (p.Arg988Trp)
|
rs2229467
|
|
NM_000228.3(LAMB3):c.31dup (p.Leu11fs)
|
rs777672897
|
|
NM_000228.3(LAMB3):c.3228+1G>A
|
rs778026407
|
|
NM_000228.3(LAMB3):c.3305del (p.Gly1102fs)
|
|
|
NM_000228.3(LAMB3):c.3340G>T (p.Glu1114Ter)
|
rs1553275195
|
|
NM_000228.3(LAMB3):c.3382+1G>A
|
rs112988476
|
|
NM_000228.3(LAMB3):c.3383-1G>A
|
rs1553275070
|
|
NM_000228.3(LAMB3):c.3394dup (p.Glu1132fs)
|
rs786201004
|
|
NM_000228.3(LAMB3):c.3431C>A (p.Ser1144Ter)
|
rs869320671
|
|
NM_000228.3(LAMB3):c.3446_3453del (p.Gly1149fs)
|
rs1553275034
|
|
NM_000228.3(LAMB3):c.3463_3475del (p.Glu1155fs)
|
|
|
NM_000228.3(LAMB3):c.3490C>T (p.Arg1164Cys)
|
|
|
NM_000228.3(LAMB3):c.628+2T>A
|
rs1666753666
|
|
NM_000228.3(LAMB3):c.655_656delinsTC (p.Val219Ser)
|
rs1666739864
|
|
NM_000228.3(LAMB3):c.822+33G>C
|
rs2072940
|
|
NM_000228.3(LAMB3):c.944-14C>G
|
|
|
NM_000494.4(COL17A1):c.1700G>A (p.Gly567Glu)
|
|
|
NM_000494.4(COL17A1):c.1861G>A (p.Gly621Ser)
|
|
|
NM_000494.4(COL17A1):c.2011G>A (p.Gly671Ser)
|
|
|
NM_000494.4(COL17A1):c.2030G>A (p.Gly677Asp)
|
|
|
NM_000494.4(COL17A1):c.2435-1G>A
|
|
|
NM_000494.4(COL17A1):c.2912del (p.Pro971fs)
|
|
|
NM_000494.4(COL17A1):c.2947+2T>C
|
|
|
NM_000494.4(COL17A1):c.3297C>A (p.Tyr1099Ter)
|
|
|
NM_000494.4(COL17A1):c.3397C>T (p.Arg1133Cys)
|
|
|
NM_000494.4(COL17A1):c.340del (p.Ser114fs)
|
|
|
NM_000494.4(COL17A1):c.3456del (p.Pro1154fs)
|
|
|
NM_000494.4(COL17A1):c.3462_3463del (p.Gly1155fs)
|
|
|
NM_000494.4(COL17A1):c.3595G>C (p.Glu1199Gln)
|
|
|
NM_000494.4(COL17A1):c.3598G>T (p.Asp1200Tyr)
|
|
|
NM_000494.4(COL17A1):c.3605C>T (p.Ser1202Leu)
|
|
|
NM_000494.4(COL17A1):c.4147_4148del (p.Ser1383fs)
|
|
|
NM_000494.4(COL17A1):c.4156+2dup
|
|
|
NM_000494.4(COL17A1):c.541_550del (p.Asn181fs)
|
|
|
NM_000888.5(ITGB6):c.1661-3C>G
|
rs1683256077
|
|
NM_000888.5(ITGB6):c.2269-5del
|
rs5835793
|
|
NM_000888.5(ITGB6):c.586C>A (p.Pro196Thr)
|
rs730880298
|
|
NM_000888.5(ITGB6):c.625G>T (p.Gly209Ter)
|
rs561588576
|
|
NM_000888.5(ITGB6):c.718G>A (p.Glu240Lys)
|
|
|
NM_000888.5(ITGB6):c.825T>A (p.His275Gln)
|
rs730882118
|
|
NM_001130144.3(LTBP3):c.3716G>A (p.Cys1239Tyr)
|
|
|
NM_001142.2(AMELX):c.110C>T (p.Thr37Ile)
|
rs104894733
|
|
NM_001142.2(AMELX):c.113del (p.Pro38fs)
|
rs387906487
|
|
NM_001142.2(AMELX):c.11G>C (p.Trp4Ser)
|
rs104894738
|
|
NM_001142.2(AMELX):c.129G>C (p.Gln43His)
|
rs431825176
|
|
NM_001142.2(AMELX):c.132C>A (p.Ser44Arg)
|
rs431825178
|
|
NM_001142.2(AMELX):c.143del (p.Pro48fs)
|
rs1603038146
|
|
NM_001142.2(AMELX):c.14_22del (p.Ile5_Ala8delinsThr)
|
rs387906488
|
|
NM_001142.2(AMELX):c.166C>A (p.Pro56Thr)
|
rs104894736
|
|
NM_001142.2(AMELX):c.289C>T (p.Gln97Ter)
|
rs2147573600
|
|
NM_001142.2(AMELX):c.2T>C (p.Met1Thr)
|
rs104894737
|
|
NM_001142.2(AMELX):c.378del (p.Tyr127fs)
|
rs387906491
|
|
NM_001142.2(AMELX):c.431del (p.Pro144fs)
|
rs387906489
|
|
NM_001142.2(AMELX):c.47C>A (p.Ala16Asp)
|
|
|
NM_001142.2(AMELX):c.499del (p.Leu167fs)
|
rs387906490
|
|
NM_001142.2(AMELX):c.529G>T (p.Glu177Ter)
|
rs104894734
|
|
NM_001177676.2(GPR68):c.221T>C (p.Leu74Pro)
|
rs1057517672
|
|
NM_001177676.2(GPR68):c.386_835del (p.Phe129_Asn278del)
|
rs1555409827
|
|
NM_001177676.2(GPR68):c.667_668del (p.Lys223fs)
|
rs1057517671
|
|
NM_001177676.2(GPR68):c.78_83delinsC (p.Val27fs)
|
rs2140845247
|
|
NM_001177676.2(GPR68):c.975dup (p.Glu326fs)
|
|
|
NM_001258248.2(SP6):c.817_818delinsAA (p.Ala273Lys)
|
|
|
NM_001258248.2(SP6):c.817_818delinsAT (p.Ala273Met)
|
rs2143647637
|
|
NM_001276290.1(PRKAR1A):c.973+4267_974-9286del
|
|
|
NM_001287242.1(ARHGAP6):c.49-45951_49-41228del
|
|
|
NM_004771.4(MMP20):c.*110A>T
|
rs886047544
|
|
NM_004771.4(MMP20):c.*227A>C
|
rs12278482
|
|
NM_004771.4(MMP20):c.*268T>C
|
rs376611871
|
|
NM_004771.4(MMP20):c.*299G>A
|
rs17098541
|
|
NM_004771.4(MMP20):c.*412G>A
|
rs774781201
|
|
NM_004771.4(MMP20):c.*484T>C
|
rs531522695
|
|
NM_004771.4(MMP20):c.1122A>C (p.Gln374His)
|
rs916966344
|
|
NM_004771.4(MMP20):c.1126C>T (p.Gln376Ter)
|
|
|
NM_004771.4(MMP20):c.1247+8T>C
|
rs886047545
|
|
NM_004771.4(MMP20):c.1287A>G (p.Pro429=)
|
rs200893460
|
|
NM_004771.4(MMP20):c.1362C>G (p.Tyr454Ter)
|
|
|
NM_004771.4(MMP20):c.1418G>A (p.Ser473Asn)
|
rs1269504792
|
|
NM_004771.4(MMP20):c.1430C>G (p.Ser477Cys)
|
rs766621123
|
|
NM_004771.4(MMP20):c.289A>T (p.Lys97Ter)
|
rs367552668
|
|
NM_004771.4(MMP20):c.359dup (p.Asn120fs)
|
|
|
NM_004771.4(MMP20):c.530G>A (p.Gly177Glu)
|
|
|
NM_004771.4(MMP20):c.611A>G (p.His204Arg)
|
rs786204826
|
|
NM_004771.4(MMP20):c.625G>C (p.Glu209Gln)
|
rs199788797
|
|
NM_004771.4(MMP20):c.641G>C (p.Gly214Ala)
|
rs1859574030
|
|
NM_004771.4(MMP20):c.644C>T (p.Thr215Met)
|
rs377682409
|
|
NM_004771.4(MMP20):c.666C>T (p.Thr222=)
|
rs763757159
|
|
NM_004771.4(MMP20):c.667G>A (p.Val223Ile)
|
rs145109609
|
|
NM_004771.4(MMP20):c.678T>A (p.His226Gln)
|
rs587777515
|
|
NM_004771.4(MMP20):c.690T>G (p.His230Gln)
|
|
|
NM_004771.4(MMP20):c.710C>A (p.Ser237Tyr)
|
rs1565397250
|
|
NM_004771.4(MMP20):c.809_811+12delinsCCAG
|
rs1859555583
|
|
NM_004771.4(MMP20):c.883C>G (p.Leu295Val)
|
rs146876571
|
|
NM_004771.4(MMP20):c.[1046C>T;911C>G]
|
|
|
NM_004917.5(KLK4):c.170C>A (p.Ser57Ter)
|
rs1185328501
|
|
NM_004917.5(KLK4):c.245del (p.Gly82fs)
|
rs786204825
|
|
NM_004917.5(KLK4):c.443G>T (p.Cys148Phe)
|
|
|
NM_004917.5(KLK4):c.620_621del (p.Ser207fs)
|
rs768235705
|
|
NM_005220.3(DLX3):c.*1025G>T
|
rs1224971346
|
|
NM_005220.3(DLX3):c.*1205A>C
|
rs886053129
|
|
NM_005220.3(DLX3):c.*1408G>A
|
rs772459781
|
|
NM_005220.3(DLX3):c.*1505G>A
|
rs768920190
|
|
NM_005220.3(DLX3):c.*714C>T
|
rs886053132
|
|
NM_005220.3(DLX3):c.*83G>A
|
rs886053134
|
|
NM_005220.3(DLX3):c.*987C>T
|
rs575910460
|
|
NM_005220.3(DLX3):c.-131C>A
|
rs543871008
|
|
NM_005220.3(DLX3):c.-131C>G
|
rs543871008
|
|
NM_005220.3(DLX3):c.-132C>A
|
rs150591955
|
|
NM_005220.3(DLX3):c.465G>A (p.Ala155=)
|
rs534788536
|
|
NM_005220.3(DLX3):c.476G>T (p.Arg159Leu)
|
rs1555617226
|
|
NM_005220.3(DLX3):c.537C>A (p.Asn179Lys)
|
|
|
NM_005220.3(DLX3):c.561_562del (p.Tyr188fs)
|
rs387906406
|
|
NM_005220.3(DLX3):c.574del (p.Glu192fs)
|
rs1057518764
|
|
NM_005220.3(DLX3):c.574dup (p.Glu192fs)
|
rs1057518764
|
|
NM_005220.3(DLX3):c.746A>C (p.Asn249Thr)
|
rs1906092898
|
|
NM_005220.3(DLX3):c.846C>A (p.Asn282Lys)
|
rs886053135
|
|
NM_005220.3(DLX3):c.92C>G (p.Thr31Ser)
|
|
|
NM_016139.4(CHCHD2):c.418G>A (p.Val140Met)
|
rs1562887957
|
|
NM_016519.6(AMBN):c.15+1G>A
|
|
|
NM_016519.6(AMBN):c.294+140_531+479del
|
|
|
NM_016519.6(AMBN):c.295T>C (p.Tyr99His)
|
|
|
NM_016519.6(AMBN):c.532-1G>C
|
rs146238585
|
|
NM_016519.6(AMBN):c.539dup (p.Val181fs)
|
|
|
NM_016519.6(AMBN):c.571-1G>C
|
|
|
NM_016519.6(AMBN):c.577G>T (p.Gly193Ter)
|
|
|
NM_016519.6(AMBN):c.76G>A (p.Ala26Thr)
|
|
|
NM_017565.4(FAM20A):c.1094T>C (p.Leu365Pro)
|
rs956049429
|
|
NM_017565.4(FAM20A):c.1109+3_1109+7delinsTGGTC
|
rs2143495812
|
|
NM_017565.4(FAM20A):c.111_145del (p.Glu39fs)
|
rs2143965549
|
|
NM_017565.4(FAM20A):c.1169G>A (p.Ser390Asn)
|
rs771912912
|
|
NM_017565.4(FAM20A):c.1175_1179del (p.Arg392fs)
|
rs587776913
|
|
NM_017565.4(FAM20A):c.1210T>C (p.Phe404Leu)
|
|
|
NM_017565.4(FAM20A):c.1219+3_1219+6del
|
rs2086254952
|
|
NM_017565.4(FAM20A):c.1231C>T (p.Arg411Trp)
|
rs149970399
|
|
NM_017565.4(FAM20A):c.1294G>A (p.Ala432Thr)
|
rs200599944
|
|
NM_017565.4(FAM20A):c.1301+5G>A
|
|
|
NM_017565.4(FAM20A):c.1361+1G>A
|
|
|
NM_017565.4(FAM20A):c.1432C>T (p.Arg478Ter)
|
rs139620139
|
|
NM_017565.4(FAM20A):c.349_367del (p.Leu117fs)
|
rs766926330
|
|
NM_017565.4(FAM20A):c.34_35del (p.Leu12fs)
|
rs587776911
|
|
NM_017565.4(FAM20A):c.53T>A (p.Leu18Gln)
|
|
|
NM_017565.4(FAM20A):c.590-2A>G
|
rs587776914
|
|
NM_017565.4(FAM20A):c.610del (p.Ala204fs)
|
|
|
NM_017565.4(FAM20A):c.612del (p.Leu205fs)
|
rs587777531
|
|
NM_017565.4(FAM20A):c.626dup (p.Cys209fs)
|
|
|
NM_017565.4(FAM20A):c.720-2A>G
|
rs587777530
|
|
NM_017565.4(FAM20A):c.757T>C (p.Tyr253His)
|
rs2143526028
|
|
NM_017565.4(FAM20A):c.758A>G (p.Tyr253Cys)
|
rs2143526006
|
|
NM_017565.4(FAM20A):c.885del (p.Thr296fs)
|
rs1568724130
|
|
NM_017565.4(FAM20A):c.915_918del (p.Phe305fs)
|
rs760163489
|
|
NM_017565.4(FAM20A):c.928+2T>C
|
|
|
NM_017565.4(FAM20A):c.976_978del (p.Glu326del)
|
|
|
NM_017565.4(FAM20A):c.[129del;734_735del]
|
|
|
NM_017637.6(BNC2):c.2860G>A (p.Ala954Thr)
|
rs763487720
|
|
NM_031889.3(ENAM):c.*1078C>T
|
rs116148244
|
|
NM_031889.3(ENAM):c.*1211T>G
|
rs886059593
|
|
NM_031889.3(ENAM):c.*1717G>T
|
rs1738767754
|
|
NM_031889.3(ENAM):c.*261T>A
|
rs145784024
|
|
NM_031889.3(ENAM):c.*422G>T
|
rs886059589
|
|
NM_031889.3(ENAM):c.*459T>C
|
rs995976769
|
|
NM_031889.3(ENAM):c.*653T>A
|
rs147787859
|
|
NM_031889.3(ENAM):c.*680T>C
|
rs1738738819
|
|
NM_031889.3(ENAM):c.*985C>T
|
rs182854472
|
|
NM_031889.3(ENAM):c.*986G>A
|
rs968135437
|
|
NM_031889.3(ENAM):c.-111A>T
|
rs886059582
|
|
NM_031889.3(ENAM):c.-112A>G
|
rs886059581
|
|
NM_031889.3(ENAM):c.-218A>G
|
rs886059580
|
|
NM_031889.3(ENAM):c.-25G>A
|
rs778175689
|
|
NM_031889.3(ENAM):c.-61+1G>A
|
rs2109817825
|
|
NM_031889.3(ENAM):c.101T>C (p.Leu34Pro)
|
|
|
NM_031889.3(ENAM):c.1072G>A (p.Gly358Ser)
|
rs147295492
|
|
NM_031889.3(ENAM):c.123+2T>G
|
rs1553887511
|
|
NM_031889.3(ENAM):c.157A>T (p.Lys53Ter)
|
rs121908109
|
|
NM_031889.3(ENAM):c.1842C>G (p.Tyr614Ter)
|
rs1553888384
|
|
NM_031889.3(ENAM):c.1945G>A (p.Val649Ile)
|
rs199541879
|
|
NM_031889.3(ENAM):c.2153A>C (p.Glu718Ala)
|
rs1738668322
|
|
NM_031889.3(ENAM):c.2241C>T (p.Tyr747=)
|
rs36064169
|
|
NM_031889.3(ENAM):c.2369C>A (p.Ala790Glu)
|
rs1738678483
|
|
NM_031889.3(ENAM):c.2749A>C (p.Lys917Gln)
|
rs886059584
|
|
NM_031889.3(ENAM):c.3148T>C (p.Ser1050Pro)
|
rs1738705709
|
|
NM_031889.3(ENAM):c.3310C>A (p.Gln1104Lys)
|
rs114751362
|
|
NM_031889.3(ENAM):c.481C>G (p.Pro161Ala)
|
rs1738438667
|
|
NM_031889.3(ENAM):c.534+1G>A
|
rs587776587
|
|
NM_031889.3(ENAM):c.549A>G (p.Pro183=)
|
rs1738493259
|
|
NM_031889.3(ENAM):c.584G>T (p.Gly195Val)
|
rs143129444
|
|
NM_031889.3(ENAM):c.588+1del
|
rs752102959
|
|
NM_031889.3(ENAM):c.588+1dup
|
rs752102959
|
|
NM_031889.3(ENAM):c.664C>T (p.Gln222Ter)
|
|
|
NM_031889.3(ENAM):c.76A>T (p.Ile26Phe)
|
rs141034810
|
|
NM_031889.3(ENAM):c.92T>G (p.Leu31Arg)
|
rs1060499539
|
|
NM_033068.3(ACP4):c.1199C>A (p.Ala400Asp)
|
|
|
NM_033068.3(ACP4):c.262C>A (p.Arg88Ser)
|
rs1190557090
|
|
NM_033068.3(ACP4):c.350A>G (p.Gln117Arg)
|
rs2123287930
|
|
NM_033068.3(ACP4):c.419C>T (p.Pro140Leu)
|
rs1371134137
|
|
NM_033068.3(ACP4):c.626T>C (p.Leu209Pro)
|
|
|
NM_033068.3(ACP4):c.645+1G>A
|
|
|
NM_033068.3(ACP4):c.736G>A (p.Val246Met)
|
|
|
NM_033068.3(ACP4):c.746C>T (p.Pro249Leu)
|
rs1085307111
|
|
NM_152222.2(RELT):c.121-2A>G
|
rs1565222166
|
|
NM_152222.2(RELT):c.1265G>C (p.Arg422Pro)
|
rs762816338
|
|
NM_152222.2(RELT):c.164C>T (p.Thr55Ile)
|
rs1866200282
|
|
NM_152222.2(RELT):c.260A>T (p.Asp87Val)
|
|
|
NM_152222.2(RELT):c.521T>G (p.Leu174Arg)
|
|
|
NM_153646.4(SLC24A4):c.1192C>T (p.Gln398Ter)
|
rs1595312054
|
|
NM_153646.4(SLC24A4):c.1495A>T (p.Ser499Cys)
|
rs587777536
|
|
NM_153646.4(SLC24A4):c.1716+5G>A
|
|
|
NM_153646.4(SLC24A4):c.437C>T (p.Ala146Val)
|
rs587777537
|
|
NM_153646.4(SLC24A4):c.613C>T (p.Arg205Ter)
|
rs141131742
|
|
NM_178497.5(ODAPH):c.129C>A (p.Cys43Ter)
|
rs1560562738
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NM_178497.5(ODAPH):c.51_56delinsATGCTGGTTACTGGTA (p.Val18fs)
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rs1560558455
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NM_178497.5(ODAPH):c.68-2A>T
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rs1560562630
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NM_182758.4(WDR72):c.*1175G>T
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rs572496420
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NM_182758.4(WDR72):c.*1183G>A
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rs886051295
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NM_182758.4(WDR72):c.*1528C>G
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rs1891450952
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NM_182758.4(WDR72):c.*1553G>C
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rs1891449343
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NM_182758.4(WDR72):c.*1577G>C
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rs886051293
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NM_182758.4(WDR72):c.*1583T>C
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rs886051292
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NM_182758.4(WDR72):c.*1859A>G
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rs1891432762
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NM_182758.4(WDR72):c.*2003G>C
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rs1891422335
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NM_182758.4(WDR72):c.*2050C>A
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rs561453499
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NM_182758.4(WDR72):c.*2209C>T
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rs556155906
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NM_182758.4(WDR72):c.*2378T>A
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rs767102554
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NM_182758.4(WDR72):c.*2470A>G
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rs1891398511
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NM_182758.4(WDR72):c.*2587G>C
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rs1333938684
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NM_182758.4(WDR72):c.*2766G>C
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rs1891351217
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NM_182758.4(WDR72):c.*2919T>G
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rs886051281
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NM_182758.4(WDR72):c.*3334A>G
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rs1015802614
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NM_182758.4(WDR72):c.*3423A>C
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rs74015386
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NM_182758.4(WDR72):c.*3470C>T
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rs886051280
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NM_182758.4(WDR72):c.*3514G>T
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rs185236656
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NM_182758.4(WDR72):c.*3594A>C
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rs886051279
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NM_182758.4(WDR72):c.*3627C>T
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rs1595717383
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NM_182758.4(WDR72):c.118C>T (p.Gln40Ter)
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NM_182758.4(WDR72):c.1283T>G (p.Ile428Ser)
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NM_182758.4(WDR72):c.1287_1289del (p.Ile430del)
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NM_182758.4(WDR72):c.1288A>G (p.Ile430Val)
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rs2017308454
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NM_182758.4(WDR72):c.1394C>G (p.Thr465Ser)
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rs886051300
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NM_182758.4(WDR72):c.153+1G>C
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rs368092923
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NM_182758.4(WDR72):c.1604G>A (p.Gly535Asp)
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rs1200122301
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NM_182758.4(WDR72):c.1659C>T (p.Ala553=)
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rs886051299
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NM_182758.4(WDR72):c.1725A>T (p.Gly575=)
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rs2017110073
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NM_182758.4(WDR72):c.1766-2423_1962+1074del
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|
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NM_182758.4(WDR72):c.1777A>G (p.Arg593Gly)
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rs1376457227
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NM_182758.4(WDR72):c.1918G>C (p.Gly640Arg)
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rs886051298
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NM_182758.4(WDR72):c.2146del (p.Ala716fs)
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NM_182758.4(WDR72):c.2332dup (p.Met778fs)
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NM_182758.4(WDR72):c.2348C>G (p.Ser783Ter)
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rs267607178
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NM_182758.4(WDR72):c.2388del (p.Lys796fs)
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|
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NM_182758.4(WDR72):c.243T>C (p.Val81=)
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rs1371448411
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NM_182758.4(WDR72):c.2569T>C (p.Tyr857His)
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rs2013726558
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NM_182758.4(WDR72):c.261-8del
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rs34828731
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NM_182758.4(WDR72):c.2680_2699delinsACTATAGTT (p.Ser894fs)
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|
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NM_182758.4(WDR72):c.2694A>G (p.Ser898=)
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rs114363728
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NM_182758.4(WDR72):c.2857del (p.Ser953fs)
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rs606231351
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NM_182758.4(WDR72):c.2864T>G (p.Leu955Ter)
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|
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NM_182758.4(WDR72):c.2872+42del
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rs34829468
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NM_182758.4(WDR72):c.2872+4A>G
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rs1595794133
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NM_182758.4(WDR72):c.2934G>A (p.Trp978Ter)
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rs143816093
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NM_182758.4(WDR72):c.3128G>T (p.Arg1043Ile)
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rs2012816001
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NM_182758.4(WDR72):c.3149-30CT[13]
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rs57737580
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NM_182758.4(WDR72):c.3245A>T (p.Glu1082Val)
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rs1891896792
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NM_182758.4(WDR72):c.409C>G (p.Leu137Val)
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rs140484726
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NM_182758.4(WDR72):c.53A>G (p.His18Arg)
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rs200374434
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NM_182758.4(WDR72):c.766C>G (p.Gln256Glu)
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rs886051302
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NM_182758.4(WDR72):c.88C>T (p.Arg30Ter)
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rs770804941
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NM_182758.4(WDR72):c.954+1_954+10del
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|
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NM_182758.4(WDR72):c.957A>G (p.Glu319=)
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rs1029083427
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NM_182758.4:c.-13+989_7del
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|
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NM_198488.5(FAM83H):c.1192C>T (p.Gln398Ter)
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rs137854436
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NM_198488.5(FAM83H):c.1243G>T (p.Glu415Ter)
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rs137854437
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NM_198488.5(FAM83H):c.1309_1311delinsTAA (p.His437Ter)
|
rs2129674608
|
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NM_198488.5(FAM83H):c.1309_1311delinsTAG (p.His437Ter)
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|
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NM_198488.5(FAM83H):c.1330C>T (p.Gln444Ter)
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rs1818377152
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NM_198488.5(FAM83H):c.1363C>T (p.Gln455Ter)
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rs2129674125
|
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NM_198488.5(FAM83H):c.1366C>T (p.Gln456Ter)
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rs387907056
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NM_198488.5(FAM83H):c.1375C>T (p.Gln459Ter)
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|
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NM_198488.5(FAM83H):c.1379G>A (p.Trp460Ter)
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rs137854444
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NM_198488.5(FAM83H):c.1380G>A (p.Trp460Ter)
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rs137854439
|
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NM_198488.5(FAM83H):c.1408C>T (p.Gln470Ter)
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rs137854441
|
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NM_198488.5(FAM83H):c.1466del (p.Phe489fs)
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|
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NM_198488.5(FAM83H):c.1498C>G (p.Leu500Val)
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|
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NM_198488.5(FAM83H):c.1828G>T (p.Glu610Ter)
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rs1554622736
|
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NM_198488.5(FAM83H):c.1872_1873del (p.Leu625fs)
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rs796065022
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NM_198488.5(FAM83H):c.1915A>T (p.Lys639Ter)
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rs2129668758
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NM_198488.5(FAM83H):c.2029C>T (p.Gln677Ter)
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rs137854440
|
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NM_198488.5(FAM83H):c.2080G>T (p.Glu694Ter)
|
rs137854443
|
|
NM_198488.5(FAM83H):c.2250C>T (p.Gly750=)
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rs431825179
|
|
NM_198488.5(FAM83H):c.2765G>T (p.Arg922Leu)
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rs431825180
|
|
NM_198488.5(FAM83H):c.2766C>T (p.Arg922=)
|
rs431825181
|
|
NM_198488.5(FAM83H):c.860C>A (p.Ser287Ter)
|
rs137854442
|
|
NM_198488.5(FAM83H):c.891T>A (p.Tyr297Ter)
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rs137854438
|
|
NM_198488.5(FAM83H):c.923_924del (p.Leu308fs)
|
rs796065023
|
|
NM_198488.5(FAM83H):c.926_927del (p.Val309fs)
|
rs1554623490
|
|
NM_198488.5(FAM83H):c.930_939dup (p.Val314fs)
|
|
|
NM_198488.5(FAM83H):c.973C>T (p.Arg325Ter)
|
rs137854435
|
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NM_212557.4(AMTN):c.54+1348_330+98delinsCTCA
|
|
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