NM_000033.4(ABCD1):c.*8G>C
|
rs2229539
|
0.70012
|
NM_000252.3(MTM1):c.1260+3G>A
|
rs222410
|
0.58566
|
NM_001399.5(EDA):c.706+11_706+12del
|
rs10579679
|
0.45223
|
NM_000390.4(CHM):c.315-1543T>C
|
rs12835678
|
0.27812
|
NM_000052.7(ATP7A):c.2299G>C (p.Val767Leu)
|
rs2227291
|
0.24533
|
NM_000390.4(CHM):c.315-1541C>A
|
rs10217834
|
0.17278
|
NM_000390.4(CHM):c.351A>G (p.Ala117=)
|
rs10217950
|
0.17011
|
NM_033380.3(COL4A5):c.3513A>G (p.Gln1171=)
|
rs2273051
|
0.14310
|
NM_033380.3(COL4A5):c.2349G>A (p.Pro783=)
|
rs3747408
|
0.11046
|
NM_033380.3(COL4A5):c.1331T>G (p.Ile444Ser)
|
rs2272946
|
0.11020
|
NM_033380.3(COL4A5):c.2055T>C (p.Leu685=)
|
rs7884085
|
0.10905
|
NM_033380.3(COL4A5):c.1095G>C (p.Gly365=)
|
rs2272945
|
0.10302
|
NM_033380.3(COL4A5):c.4293C>T (p.Asp1431=)
|
rs61746140
|
0.10149
|
NM_000033.4(ABCD1):c.1548G>A (p.Leu516=)
|
rs41314153
|
0.08321
|
NM_000489.6(ATRX):c.4659T>C (p.His1553=)
|
rs25641
|
0.05840
|
NM_000252.3(MTM1):c.232-28C>T
|
rs73620649
|
0.03576
|
NM_033380.3(COL4A5):c.3519T>G (p.Gly1173=)
|
rs61735627
|
0.03239
|
NM_000489.6(ATRX):c.228G>A (p.Ser76=)
|
rs5959371
|
0.03016
|
NM_000330.4(RS1):c.184+35T>C
|
rs6633109
|
0.02347
|
NM_000330.4(RS1):c.295A>G (p.Asn99Asp)
|
rs144683916
|
0.01920
|
NM_000390.4(CHM):c.265A>T (p.Ser89Cys)
|
rs145707160
|
0.01253
|
NM_000033.4(ABCD1):c.2019C>T (p.Phe673=)
|
rs76637913
|
0.01192
|
NM_000489.6(ATRX):c.288A>G (p.Lys96=)
|
rs45574238
|
0.01127
|
NM_000052.7(ATP7A):c.327G>A (p.Lys109=)
|
rs61747968
|
0.00978
|
NM_000390.4(CHM):c.1802A>G (p.Asn601Ser)
|
rs145877269
|
0.00962
|
NM_033380.3(COL4A5):c.4500A>G (p.Gly1500=)
|
rs145378707
|
0.00920
|
NM_000390.4(CHM):c.238C>T (p.Leu80Phe)
|
rs55741408
|
0.00895
|
NM_000052.7(ATP7A):c.565A>G (p.Ile189Val)
|
rs2228447
|
0.00731
|
NM_000330.4(RS1):c.523-10A>C
|
rs142428831
|
0.00691
|
NM_000489.6(ATRX):c.5579A>G (p.Asn1860Ser)
|
rs45439799
|
0.00663
|
NM_000489.6(ATRX):c.1633C>G (p.Gln545Glu)
|
rs35738915
|
0.00636
|
NM_000033.4(ABCD1):c.901-10C>T
|
rs2269365
|
0.00512
|
NM_000052.7(ATP7A):c.610+8G>A
|
rs144616937
|
0.00506
|
NM_000052.7(ATP7A):c.4201G>C (p.Val1401Leu)
|
rs5959130
|
0.00500
|
NM_000330.4(RS1):c.258G>A (p.Pro86=)
|
rs147290350
|
0.00472
|
NM_033380.3(COL4A5):c.1289C>A (p.Ala430Asp)
|
rs142883891
|
0.00418
|
NM_000052.7(ATP7A):c.1823A>G (p.Tyr608Cys)
|
rs61742278
|
0.00380
|
NM_000252.3(MTM1):c.232-54A>T
|
rs143312552
|
0.00356
|
NM_000489.6(ATRX):c.4635C>A (p.Thr1545=)
|
rs148975763
|
0.00350
|
NM_001399.5(EDA):c.206G>T (p.Arg69Leu)
|
rs132630309
|
0.00312
|
NM_000330.4(RS1):c.76G>A (p.Glu26Lys)
|
rs140983930
|
0.00308
|
NM_033380.3(COL4A5):c.4223C>G (p.Thr1408Ser)
|
rs151278542
|
0.00294
|
NM_000330.4(RS1):c.548C>T (p.Thr183Ile)
|
rs150172233
|
0.00178
|
NM_000489.6(ATRX):c.3541G>C (p.Val1181Leu)
|
rs61758732
|
0.00137
|
NM_000390.4(CHM):c.1641G>T (p.Leu547=)
|
rs148301015
|
0.00132
|
NM_000390.4(CHM):c.825G>A (p.Pro275=)
|
rs145268507
|
0.00132
|
NM_033380.3(COL4A5):c.909T>C (p.Asp303=)
|
rs144586397
|
0.00122
|
NM_033380.3(COL4A5):c.2858G>T (p.Gly953Val)
|
rs78972735
|
0.00119
|
NM_000033.4(ABCD1):c.707G>A (p.Arg236His)
|
rs201455322
|
0.00114
|
NM_001399.5(EDA):c.458G>A (p.Arg153His)
|
rs140642493
|
0.00106
|
NM_033380.3(COL4A5):c.580A>G (p.Ile194Val)
|
rs145970300
|
0.00099
|
NM_000052.7(ATP7A):c.1955G>A (p.Arg652Gln)
|
rs143214563
|
0.00089
|
NM_000033.4(ABCD1):c.895C>T (p.His299Tyr)
|
rs202195978
|
0.00088
|
NM_000052.7(ATP7A):c.4006A>G (p.Asn1336Asp)
|
rs146651049
|
0.00082
|
NM_000489.6(ATRX):c.3281G>A (p.Cys1094Tyr)
|
rs146521598
|
0.00080
|
NM_000489.6(ATRX):c.2540T>C (p.Phe847Ser)
|
rs45624939
|
0.00075
|
NM_000052.7(ATP7A):c.4390A>G (p.Ile1464Val)
|
rs2234938
|
0.00066
|
NM_033380.3(COL4A5):c.834+8C>A
|
rs201717817
|
0.00066
|
NM_000033.4(ABCD1):c.258C>T (p.Val86=)
|
rs200660869
|
0.00061
|
NM_000033.4(ABCD1):c.757C>G (p.Leu253Val)
|
rs150151955
|
0.00060
|
NM_000033.4(ABCD1):c.1818G>A (p.Ser606=)
|
rs140263823
|
0.00058
|
NM_000390.4(CHM):c.1620A>G (p.Gln540=)
|
rs140479582
|
0.00057
|
NM_000390.4(CHM):c.205G>C (p.Val69Leu)
|
rs145088557
|
0.00056
|
NM_000252.3(MTM1):c.615G>A (p.Pro205=)
|
rs144517020
|
0.00053
|
NM_000390.4(CHM):c.1244+8T>A
|
rs369829791
|
0.00053
|
NM_000390.4(CHM):c.1349+10C>T
|
rs376129971
|
0.00050
|
NM_000489.6(ATRX):c.1423C>G (p.His475Asp)
|
rs146863015
|
0.00050
|
NM_000489.6(ATRX):c.2923G>A (p.Asp975Asn)
|
rs200709847
|
0.00049
|
NM_000033.4(ABCD1):c.41C>G (p.Thr14Arg)
|
rs782161942
|
0.00047
|
NM_033380.3(COL4A5):c.1187C>T (p.Pro396Leu)
|
rs113013606
|
0.00047
|
NM_000489.6(ATRX):c.4120+4A>C
|
rs200420513
|
0.00046
|
NM_000390.4(CHM):c.29A>G (p.Asp10Gly)
|
rs138374611
|
0.00042
|
NM_001399.5(EDA):c.1001G>A (p.Arg334His)
|
rs142948132
|
0.00042
|
NM_000033.4(ABCD1):c.1899C>T (p.Ser633=)
|
rs202125585
|
0.00041
|
NM_033380.3(COL4A5):c.2768-10T>C
|
rs370284884
|
0.00038
|
NM_000033.4(ABCD1):c.945G>A (p.Ser315=)
|
rs145545199
|
0.00037
|
NM_000390.4(CHM):c.8A>G (p.Asp3Gly)
|
rs149255670
|
0.00035
|
NM_000033.4(ABCD1):c.1581C>T (p.Tyr527=)
|
rs145073701
|
0.00034
|
NM_033380.3(COL4A5):c.2215C>G (p.Pro739Ala)
|
rs104886164
|
0.00034
|
NM_000033.4(ABCD1):c.1810G>A (p.Val604Ile)
|
rs151201945
|
0.00033
|
NM_001399.5(EDA):c.60A>C (p.Arg20=)
|
rs183801635
|
0.00033
|
NM_000033.4(ABCD1):c.181G>A (p.Ala61Thr)
|
rs782134465
|
0.00028
|
NM_033380.3(COL4A5):c.4353A>T (p.Gly1451=)
|
rs146884759
|
0.00028
|
NM_001399.5(EDA):c.464G>A (p.Arg155His)
|
rs144403117
|
0.00026
|
NM_000052.7(ATP7A):c.2131G>A (p.Val711Ile)
|
rs782268170
|
0.00025
|
NM_033380.3(COL4A5):c.3771A>G (p.Gln1257=)
|
rs148046007
|
0.00025
|
NM_000033.4(ABCD1):c.1117A>G (p.Lys373Glu)
|
rs368606000
|
0.00024
|
NM_000390.4(CHM):c.1380T>C (p.Asp460=)
|
rs138395490
|
0.00024
|
NM_000489.6(ATRX):c.1825C>G (p.Pro609Ala)
|
rs186742436
|
0.00024
|
NM_033380.3(COL4A5):c.2979T>G (p.Pro993=)
|
rs41306255
|
0.00024
|
NM_000033.4(ABCD1):c.249C>T (p.Phe83=)
|
rs782628755
|
0.00023
|
NM_000252.3(MTM1):c.1052A>G (p.Lys351Arg)
|
rs150430628
|
0.00022
|
NM_000330.4(RS1):c.264G>C (p.Gln88His)
|
rs201680258
|
0.00021
|
NM_033380.3(COL4A5):c.2400T>C (p.Asp800=)
|
rs372505008
|
0.00021
|
NM_033380.3(COL4A5):c.3296C>T (p.Ser1099Phe)
|
rs767087695
|
0.00021
|
NM_033380.3(COL4A5):c.4015+5T>C
|
rs190856675
|
0.00020
|
NM_000330.4(RS1):c.285G>A (p.Ser95=)
|
rs143920122
|
0.00018
|
NM_033380.3(COL4A5):c.2017A>G (p.Arg673Gly)
|
rs200348997
|
0.00017
|
NM_033380.3(COL4A5):c.2692A>G (p.Met898Val)
|
rs104886192
|
0.00017
|
NM_000033.4(ABCD1):c.1902C>T (p.Ala634=)
|
rs141110958
|
0.00016
|
NM_000033.4(ABCD1):c.901-5C>T
|
rs782603062
|
0.00015
|
NM_000390.4(CHM):c.1255A>G (p.Ile419Val)
|
rs140093046
|
0.00015
|
NM_033380.3(COL4A5):c.3029A>G (p.Asn1010Ser)
|
rs151077921
|
0.00015
|
NM_000033.4(ABCD1):c.420C>A (p.Ile140=)
|
rs74315279
|
0.00014
|
NM_033380.3(COL4A5):c.858T>C (p.Gly286=)
|
rs183837448
|
0.00014
|
NM_000489.6(ATRX):c.2650G>A (p.Glu884Lys)
|
rs200343648
|
0.00013
|
NM_033380.3(COL4A5):c.3251A>C (p.Glu1084Ala)
|
rs146873772
|
0.00013
|
NM_000033.4(ABCD1):c.2202G>A (p.Pro734=)
|
rs782093609
|
0.00012
|
NM_000390.4(CHM):c.1713C>T (p.Asn571=)
|
rs142340268
|
0.00012
|
NM_000489.6(ATRX):c.7256A>G (p.Asn2419Ser)
|
rs781853125
|
0.00012
|
NM_001399.5(EDA):c.390G>T (p.Gly130=)
|
rs143746851
|
0.00012
|
NM_033380.3(COL4A5):c.2571A>G (p.Gly857=)
|
rs41311553
|
0.00012
|
NM_033380.3(COL4A5):c.4315+9A>T
|
rs764116323
|
0.00012
|
NM_000252.3(MTM1):c.1701C>T (p.Tyr567=)
|
rs587783806
|
0.00011
|
NM_000252.3(MTM1):c.176T>C (p.Ile59Thr)
|
rs782217375
|
0.00011
|
NM_000489.6(ATRX):c.820T>C (p.Leu274=)
|
rs146012355
|
0.00011
|
NM_000033.4(ABCD1):c.108G>A (p.Val36=)
|
rs368718078
|
0.00010
|
NM_000033.4(ABCD1):c.1245C>T (p.Tyr415=)
|
rs782742220
|
0.00010
|
NM_000330.4(RS1):c.184+9C>T
|
rs377631416
|
0.00010
|
NM_000330.4(RS1):c.88G>A (p.Glu30Lys)
|
rs146477940
|
0.00010
|
NM_000489.6(ATRX):c.6871A>G (p.Ile2291Val)
|
rs374244026
|
0.00010
|
NM_000489.6(ATRX):c.831C>T (p.Val277=)
|
rs142561199
|
0.00010
|
NM_033380.3(COL4A5):c.4087+6A>T
|
rs748429212
|
0.00010
|
NM_033380.3(COL4A5):c.4217-6C>T
|
rs764326196
|
0.00010
|
NM_033380.3(COL4A5):c.568A>G (p.Ile190Val)
|
rs367890539
|
0.00010
|
NM_033380.3(COL4A5):c.861G>A (p.Glu287=)
|
rs41300173
|
0.00010
|
NM_000033.4(ABCD1):c.2079G>A (p.Thr693=)
|
rs781935761
|
0.00009
|
NM_000390.4(CHM):c.1771-4C>T
|
rs376625115
|
0.00009
|
NM_000489.6(ATRX):c.3065G>A (p.Arg1022Gln)
|
rs781811015
|
0.00009
|
NM_033380.3(COL4A5):c.4075A>G (p.Ile1359Val)
|
rs748850424
|
0.00009
|
NM_033380.3(COL4A5):c.4741G>T (p.Ala1581Ser)
|
rs151130451
|
0.00009
|
NM_000033.4(ABCD1):c.274G>A (p.Gly92Arg)
|
rs201979180
|
0.00008
|
NM_000489.6(ATRX):c.1868A>G (p.Lys623Arg)
|
rs145678415
|
0.00008
|
NM_000489.6(ATRX):c.7435A>G (p.Met2479Val)
|
rs200478641
|
0.00008
|
NM_033380.3(COL4A5):c.89A>G (p.Tyr30Cys)
|
rs150305490
|
0.00008
|
NM_000033.4(ABCD1):c.1125G>A (p.Glu375=)
|
rs781928741
|
0.00007
|
NM_000033.4(ABCD1):c.504C>G (p.Ala168=)
|
rs782453684
|
0.00007
|
NM_000033.4(ABCD1):c.870G>A (p.Ser290=)
|
rs782563177
|
0.00007
|
NM_000489.6(ATRX):c.1245C>T (p.Ser415=)
|
rs141815992
|
0.00007
|
NM_000489.6(ATRX):c.2118T>A (p.Ser706Arg)
|
rs782598442
|
0.00007
|
NM_000489.6(ATRX):c.2806G>C (p.Val936Leu)
|
rs149232501
|
0.00007
|
NM_000489.6(ATRX):c.3913A>C (p.Lys1305Gln)
|
rs782708557
|
0.00007
|
NM_000489.6(ATRX):c.4130A>G (p.Glu1377Gly)
|
rs782553301
|
0.00007
|
NM_001399.5(EDA):c.870C>T (p.Ser290=)
|
rs760869403
|
0.00007
|
NM_033380.3(COL4A5):c.1350A>G (p.Ile450Met)
|
rs201481496
|
0.00007
|
NM_033380.3(COL4A5):c.3247-10G>A
|
rs369817184
|
0.00007
|
NM_033380.3(COL4A5):c.3403A>G (p.Ile1135Val)
|
rs747614562
|
0.00007
|
NM_033380.3(COL4A5):c.646-6C>T
|
rs200151467
|
0.00007
|
NM_000033.4(ABCD1):c.100C>T (p.Pro34Ser)
|
rs375019683
|
0.00006
|
NM_000033.4(ABCD1):c.2087A>T (p.Lys696Met)
|
rs782157913
|
0.00006
|
NM_000252.3(MTM1):c.1455T>C (p.Ala485=)
|
rs141358705
|
0.00006
|
NM_000252.3(MTM1):c.1729G>A (p.Ala577Thr)
|
rs148195763
|
0.00006
|
NM_000252.3(MTM1):c.481G>A (p.Val161Met)
|
rs782744530
|
0.00006
|
NM_000390.4(CHM):c.498G>A (p.Ala166=)
|
rs779055829
|
0.00006
|
NM_000390.4(CHM):c.957A>G (p.Thr319=)
|
rs373242750
|
0.00006
|
NM_000489.6(ATRX):c.1033G>A (p.Ala345Thr)
|
rs149249195
|
0.00006
|
NM_000489.6(ATRX):c.189G>A (p.Glu63=)
|
rs587778082
|
0.00006
|
NM_000489.6(ATRX):c.2000C>T (p.Pro667Leu)
|
rs61752457
|
0.00006
|
NM_000489.6(ATRX):c.2105A>G (p.Asn702Ser)
|
rs782409603
|
0.00006
|
NM_000489.6(ATRX):c.2312C>T (p.Ala771Val)
|
rs376906761
|
0.00006
|
NM_000489.6(ATRX):c.2313G>A (p.Ala771=)
|
rs373458498
|
0.00006
|
NM_000489.6(ATRX):c.4224G>A (p.Lys1408=)
|
rs781984385
|
0.00006
|
NM_000489.6(ATRX):c.4859G>A (p.Ser1620Asn)
|
rs781875880
|
0.00006
|
NM_033380.3(COL4A5):c.1586C>A (p.Pro529Gln)
|
rs758983710
|
0.00006
|
NM_033380.3(COL4A5):c.3468T>C (p.His1156=)
|
rs769984503
|
0.00006
|
NM_033380.3(COL4A5):c.3923A>G (p.Gln1308Arg)
|
rs104886399
|
0.00006
|
NM_000033.4(ABCD1):c.1092C>T (p.Ala364=)
|
rs782250326
|
0.00005
|
NM_000033.4(ABCD1):c.2065C>T (p.Arg689Cys)
|
rs782376163
|
0.00005
|
NM_000033.4(ABCD1):c.414C>T (p.Leu138=)
|
rs782197275
|
0.00005
|
NM_000252.3(MTM1):c.1376A>G (p.Asn459Ser)
|
rs587783785
|
0.00005
|
NM_000252.3(MTM1):c.1793A>G (p.His598Arg)
|
rs201373390
|
0.00005
|
NM_000252.3(MTM1):c.546T>C (p.His182=)
|
rs782217349
|
0.00005
|
NM_000252.3(MTM1):c.620G>A (p.Arg207His)
|
rs187357952
|
0.00005
|
NM_000330.4(RS1):c.7C>G (p.Arg3Gly)
|
rs571944937
|
0.00005
|
NM_000489.6(ATRX):c.1169G>A (p.Arg390His)
|
rs367986587
|
0.00005
|
NM_000489.6(ATRX):c.118A>G (p.Met40Val)
|
rs149990714
|
0.00005
|
NM_000489.6(ATRX):c.1645A>G (p.Ser549Gly)
|
rs148513102
|
0.00005
|
NM_000489.6(ATRX):c.2133T>G (p.Pro711=)
|
rs782781621
|
0.00005
|
NM_000489.6(ATRX):c.2683G>C (p.Val895Leu)
|
rs782529714
|
0.00005
|
NM_000489.6(ATRX):c.2697G>A (p.Thr899=)
|
rs137974888
|
0.00005
|
NM_000489.6(ATRX):c.2701A>G (p.Ile901Val)
|
rs587778087
|
0.00005
|
NM_000489.6(ATRX):c.3622A>G (p.Ile1208Val)
|
rs782257568
|
0.00005
|
NM_000489.6(ATRX):c.3794A>G (p.Asn1265Ser)
|
rs371187842
|
0.00005
|
NM_000489.6(ATRX):c.3978A>G (p.Ser1326=)
|
rs369658928
|
0.00005
|
NM_000489.6(ATRX):c.4710T>C (p.Phe1570=)
|
rs781829081
|
0.00005
|
NM_000489.6(ATRX):c.5957-9C>G
|
rs375791318
|
0.00005
|
NM_033380.3(COL4A5):c.1584A>G (p.Leu528=)
|
rs370355907
|
0.00005
|
NM_033380.3(COL4A5):c.1871G>A (p.Gly624Asp)
|
rs104886142
|
0.00005
|
NM_033380.3(COL4A5):c.4209C>T (p.Gly1403=)
|
rs752953167
|
0.00005
|
NM_000033.4(ABCD1):c.1141C>T (p.Arg381Cys)
|
rs781983308
|
0.00004
|
NM_000033.4(ABCD1):c.493C>T (p.Arg165Cys)
|
rs781850760
|
0.00004
|
NM_000033.4(ABCD1):c.600C>T (p.Asp200=)
|
rs782724538
|
0.00004
|
NM_000252.3(MTM1):c.1383A>G (p.Gln461=)
|
rs782410861
|
0.00004
|
NM_000252.3(MTM1):c.1695C>T (p.Asp565=)
|
rs140744506
|
0.00004
|
NM_000252.3(MTM1):c.230C>T (p.Thr77Met)
|
rs782640338
|
0.00004
|
NM_000252.3(MTM1):c.66G>A (p.Thr22=)
|
rs781793926
|
0.00004
|
NM_000390.4(CHM):c.10A>G (p.Thr4Ala)
|
rs746300399
|
0.00004
|
NM_000390.4(CHM):c.182A>C (p.Glu61Ala)
|
rs372819339
|
0.00004
|
NM_000489.6(ATRX):c.1047C>G (p.Pro349=)
|
rs200288042
|
0.00004
|
NM_000489.6(ATRX):c.1438A>G (p.Thr480Ala)
|
rs587780284
|
0.00004
|
NM_000489.6(ATRX):c.2484G>C (p.Met828Ile)
|
rs782705007
|
0.00004
|
NM_000489.6(ATRX):c.2652G>C (p.Glu884Asp)
|
rs782123222
|
0.00004
|
NM_000489.6(ATRX):c.2880C>T (p.Gly960=)
|
rs782796279
|
0.00004
|
NM_000489.6(ATRX):c.3042T>C (p.Asp1014=)
|
rs140476563
|
0.00004
|
NM_000489.6(ATRX):c.3091G>A (p.Gly1031Ser)
|
rs782781078
|
0.00004
|
NM_000489.6(ATRX):c.7439G>A (p.Arg2480Lys)
|
rs369871569
|
0.00004
|
NM_001399.5(EDA):c.1080C>T (p.Ile360=)
|
rs375844339
|
0.00004
|
NM_001399.5(EDA):c.1137C>T (p.Phe379=)
|
rs780582849
|
0.00004
|
NM_033380.3(COL4A5):c.1043G>A (p.Arg348Lys)
|
rs377663039
|
0.00004
|
NM_033380.3(COL4A5):c.3955C>T (p.Arg1319Trp)
|
rs138903372
|
0.00004
|
NM_033380.3(COL4A5):c.443C>T (p.Pro148Leu)
|
rs773404950
|
0.00004
|
NM_000033.4(ABCD1):c.1518A>T (p.Thr506=)
|
rs1557054743
|
0.00003
|
NM_000033.4(ABCD1):c.294G>T (p.Ser98=)
|
rs781954264
|
0.00003
|
NM_000033.4(ABCD1):c.436T>A (p.Phe146Ile)
|
rs782720024
|
0.00003
|
NM_000252.3(MTM1):c.508G>C (p.Val170Leu)
|
rs782274835
|
0.00003
|
NM_000330.4(RS1):c.234G>A (p.Pro78=)
|
rs183092299
|
0.00003
|
NM_000330.4(RS1):c.521G>A (p.Arg174Gln)
|
rs765547068
|
0.00003
|
NM_000390.4(CHM):c.582A>G (p.Glu194=)
|
rs1444964030
|
0.00003
|
NM_000390.4(CHM):c.619A>G (p.Thr207Ala)
|
rs374880482
|
0.00003
|
NM_000489.6(ATRX):c.1350T>C (p.Cys450=)
|
rs782077373
|
0.00003
|
NM_000489.6(ATRX):c.1480A>G (p.Lys494Glu)
|
rs1394070657
|
0.00003
|
NM_000489.6(ATRX):c.1880G>A (p.Cys627Tyr)
|
rs370584074
|
0.00003
|
NM_000489.6(ATRX):c.2001G>A (p.Pro667=)
|
rs139997330
|
0.00003
|
NM_000489.6(ATRX):c.2150C>T (p.Pro717Leu)
|
rs372617572
|
0.00003
|
NM_000489.6(ATRX):c.2225G>C (p.Ser742Thr)
|
rs1340328179
|
0.00003
|
NM_000489.6(ATRX):c.2696C>T (p.Thr899Met)
|
rs782757975
|
0.00003
|
NM_000489.6(ATRX):c.3224A>G (p.Asp1075Gly)
|
rs1064796745
|
0.00003
|
NM_000489.6(ATRX):c.3537C>T (p.Val1179=)
|
rs782800250
|
0.00003
|
NM_000489.6(ATRX):c.4210A>G (p.Thr1404Ala)
|
rs781835568
|
0.00003
|
NM_000489.6(ATRX):c.5073A>G (p.Gln1691=)
|
rs781845474
|
0.00003
|
NM_001399.5(EDA):c.1014G>A (p.Thr338=)
|
rs750674219
|
0.00003
|
NM_001399.5(EDA):c.371A>G (p.His124Arg)
|
rs751470511
|
0.00003
|
NM_033380.3(COL4A5):c.1827T>A (p.Gly609=)
|
rs756142410
|
0.00003
|
NM_033380.3(COL4A5):c.1909C>A (p.Gln637Lys)
|
rs368347660
|
0.00003
|
NM_033380.3(COL4A5):c.2604C>T (p.Pro868=)
|
rs781337825
|
0.00003
|
NM_033380.3(COL4A5):c.3684C>T (p.His1228=)
|
rs369744863
|
0.00003
|
NM_033380.3(COL4A5):c.4175T>C (p.Leu1392Pro)
|
rs754420396
|
0.00003
|
NM_000033.4(ABCD1):c.1152C>T (p.Ala384=)
|
rs782095899
|
0.00002
|
NM_000033.4(ABCD1):c.1212G>A (p.Ser404=)
|
rs375656638
|
0.00002
|
NM_000033.4(ABCD1):c.1327G>A (p.Ala443Thr)
|
rs782647014
|
0.00002
|
NM_000033.4(ABCD1):c.1467G>A (p.Val489=)
|
rs782516659
|
0.00002
|
NM_000033.4(ABCD1):c.1526A>G (p.Asn509Ser)
|
rs782158792
|
0.00002
|
NM_000033.4(ABCD1):c.1790C>G (p.Ala597Gly)
|
rs782065134
|
0.00002
|
NM_000033.4(ABCD1):c.1839C>T (p.Ile613=)
|
rs782618093
|
0.00002
|
NM_000033.4(ABCD1):c.2031C>T (p.Gly677=)
|
rs782468372
|
0.00002
|
NM_000033.4(ABCD1):c.208G>A (p.Val70Ile)
|
rs782701925
|
0.00002
|
NM_000033.4(ABCD1):c.386C>A (p.Ala129Asp)
|
rs782359412
|
0.00002
|
NM_000033.4(ABCD1):c.515G>A (p.Arg172His)
|
rs541171928
|
0.00002
|
NM_000033.4(ABCD1):c.819G>A (p.Ala273=)
|
rs782165410
|
0.00002
|
NM_000033.4(ABCD1):c.922C>T (p.Arg308Cys)
|
rs782419107
|
0.00002
|
NM_000052.7(ATP7A):c.3736A>G (p.Met1246Val)
|
rs1385333276
|
0.00002
|
NM_000052.7(ATP7A):c.4245C>T (p.Tyr1415=)
|
rs782346811
|
0.00002
|
NM_000252.3(MTM1):c.1692C>T (p.Arg564=)
|
rs1557415136
|
0.00002
|
NM_000252.3(MTM1):c.1724A>G (p.Gln575Arg)
|
rs1347335331
|
0.00002
|
NM_000252.3(MTM1):c.175A>G (p.Ile59Val)
|
rs782451760
|
0.00002
|
NM_000252.3(MTM1):c.233A>T (p.Asp78Val)
|
rs782215492
|
0.00002
|
NM_000252.3(MTM1):c.297G>A (p.Ala99=)
|
rs781784303
|
0.00002
|
NM_000252.3(MTM1):c.528+7T>C
|
rs782460237
|
0.00002
|
NM_000252.3(MTM1):c.741C>T (p.Val247=)
|
rs374360983
|
0.00002
|
NM_000330.4(RS1):c.257C>T (p.Pro86Leu)
|
rs761385911
|
0.00002
|
NM_000330.4(RS1):c.320G>A (p.Gly107Asp)
|
rs143682861
|
0.00002
|
NM_000330.4(RS1):c.471C>T (p.Thr157=)
|
rs754381417
|
0.00002
|
NM_000390.4(CHM):c.1008T>C (p.Ile336=)
|
rs749991144
|
0.00002
|
NM_000390.4(CHM):c.1217G>A (p.Cys406Tyr)
|
rs754257889
|
0.00002
|
NM_000390.4(CHM):c.352C>G (p.Leu118Val)
|
rs1355442853
|
0.00002
|
NM_000390.4(CHM):c.368C>T (p.Ala123Val)
|
rs372532715
|
0.00002
|
NM_000390.4(CHM):c.484G>A (p.Asp162Asn)
|
rs755873471
|
0.00002
|
NM_000489.6(ATRX):c.1130C>T (p.Ala377Val)
|
rs781955237
|
0.00002
|
NM_000489.6(ATRX):c.1257G>A (p.Ala419=)
|
rs185550133
|
0.00002
|
NM_000489.6(ATRX):c.1468G>A (p.Gly490Ser)
|
rs1378005125
|
0.00002
|
NM_000489.6(ATRX):c.1474G>A (p.Glu492Lys)
|
rs1418531949
|
0.00002
|
NM_000489.6(ATRX):c.1758A>G (p.Leu586=)
|
rs781987630
|
0.00002
|
NM_000489.6(ATRX):c.2212C>G (p.Leu738Val)
|
rs782470087
|
0.00002
|
NM_000489.6(ATRX):c.3133A>G (p.Lys1045Glu)
|
rs1332447363
|
0.00002
|
NM_000489.6(ATRX):c.3285G>T (p.Lys1095Asn)
|
rs1308342676
|
0.00002
|
NM_000489.6(ATRX):c.3387G>A (p.Leu1129=)
|
rs3761507
|
0.00002
|
NM_000489.6(ATRX):c.3646A>G (p.Ile1216Val)
|
rs782062542
|
0.00002
|
NM_000489.6(ATRX):c.3664G>A (p.Asp1222Asn)
|
rs782520515
|
0.00002
|
NM_000489.6(ATRX):c.366A>G (p.Pro122=)
|
rs782564172
|
0.00002
|
NM_000489.6(ATRX):c.4070A>G (p.Lys1357Arg)
|
rs1064796812
|
0.00002
|
NM_000489.6(ATRX):c.4096G>A (p.Val1366Ile)
|
rs1280555560
|
0.00002
|
NM_000489.6(ATRX):c.4329G>A (p.Glu1443=)
|
rs782044671
|
0.00002
|
NM_001399.5(EDA):c.135T>C (p.Gly45=)
|
rs766017052
|
0.00002
|
NM_001399.5(EDA):c.301C>T (p.Pro101Ser)
|
rs182251004
|
0.00002
|
NM_001399.5(EDA):c.396+10C>T
|
rs754163471
|
0.00002
|
NM_001399.5(EDA):c.463C>T (p.Arg155Cys)
|
rs132630312
|
0.00002
|
NM_033380.3(COL4A5):c.1057A>G (p.Ile353Val)
|
rs769214642
|
0.00002
|
NM_033380.3(COL4A5):c.1296G>C (p.Gly432=)
|
rs755291471
|
0.00002
|
NM_033380.3(COL4A5):c.142-6T>C
|
rs1047699266
|
0.00002
|
NM_033380.3(COL4A5):c.1810C>A (p.Pro604Thr)
|
rs183934559
|
0.00002
|
NM_033380.3(COL4A5):c.677A>C (p.Lys226Thr)
|
rs991159149
|
0.00002
|
NM_033380.3(COL4A5):c.750A>G (p.Pro250=)
|
rs1163287222
|
0.00002
|
NM_000033.4(ABCD1):c.1165C>T (p.Arg389Cys)
|
rs128624215
|
0.00001
|
NM_000033.4(ABCD1):c.1181C>T (p.Ala394Val)
|
rs1324874967
|
0.00001
|
NM_000033.4(ABCD1):c.1253G>A (p.Arg418Gln)
|
rs1046633404
|
0.00001
|
NM_000033.4(ABCD1):c.1260C>A (p.His420Gln)
|
rs782066367
|
0.00001
|
NM_000033.4(ABCD1):c.1369G>C (p.Val457Leu)
|
rs781866876
|
0.00001
|
NM_000033.4(ABCD1):c.1415A>G (p.Gln472Arg)
|
rs1569541033
|
0.00001
|
NM_000033.4(ABCD1):c.1542C>T (p.Ser514=)
|
rs149643908
|
0.00001
|
NM_000033.4(ABCD1):c.1749G>A (p.Val583=)
|
rs1557054868
|
0.00001
|
NM_000033.4(ABCD1):c.1893C>T (p.Cys631=)
|
rs1557055319
|
0.00001
|
NM_000033.4(ABCD1):c.2131C>T (p.Arg711Trp)
|
rs782583464
|
0.00001
|
NM_000033.4(ABCD1):c.2189C>T (p.Pro730Leu)
|
rs375489051
|
0.00001
|
NM_000033.4(ABCD1):c.739G>A (p.Ala247Thr)
|
rs782487174
|
0.00001
|
NM_000033.4(ABCD1):c.776G>A (p.Arg259Gln)
|
rs200191405
|
0.00001
|
NM_000033.4(ABCD1):c.809C>T (p.Ala270Val)
|
rs781970988
|
0.00001
|
NM_000052.7(ATP7A):c.1850A>G (p.Asp617Gly)
|
rs782528311
|
0.00001
|
NM_000052.7(ATP7A):c.2279A>G (p.Tyr760Cys)
|
rs782006661
|
0.00001
|
NM_000252.3(MTM1):c.1080A>G (p.Val360=)
|
rs782202285
|
0.00001
|
NM_000252.3(MTM1):c.1213A>G (p.Ile405Val)
|
rs373788741
|
0.00001
|
NM_000252.3(MTM1):c.1290C>T (p.Thr430=)
|
rs374725419
|
0.00001
|
NM_000252.3(MTM1):c.1300C>T (p.Arg434Cys)
|
rs782664128
|
0.00001
|
NM_000252.3(MTM1):c.1457G>A (p.Arg486Gln)
|
rs782032230
|
0.00001
|
NM_000252.3(MTM1):c.447A>G (p.Pro149=)
|
rs782149231
|
0.00001
|
NM_000252.3(MTM1):c.65C>T (p.Thr22Met)
|
rs781886721
|
0.00001
|
NM_000252.3(MTM1):c.783C>T (p.Leu261=)
|
rs187394611
|
0.00001
|
NM_000252.3(MTM1):c.931A>G (p.Ile311Val)
|
rs782444216
|
0.00001
|
NM_000330.4(RS1):c.213C>T (p.Phe71=)
|
rs764292483
|
0.00001
|
NM_000330.4(RS1):c.326+8G>C
|
rs752870628
|
0.00001
|
NM_000330.4(RS1):c.572G>A (p.Arg191Gln)
|
rs1402116265
|
0.00001
|
NM_000390.4(CHM):c.127T>C (p.Tyr43His)
|
rs780259893
|
0.00001
|
NM_000390.4(CHM):c.1574A>G (p.Gln525Arg)
|
rs1309166998
|
0.00001
|
NM_000390.4(CHM):c.1648C>G (p.Leu550Val)
|
rs186479811
|
0.00001
|
NM_000390.4(CHM):c.1664G>C (p.Arg555Thr)
|
rs143212912
|
0.00001
|
NM_000390.4(CHM):c.1782T>C (p.Leu594=)
|
rs781107287
|
0.00001
|
NM_000390.4(CHM):c.1893A>G (p.Ile631Met)
|
rs778210722
|
0.00001
|
NM_000390.4(CHM):c.1929A>C (p.Thr643=)
|
rs747278560
|
0.00001
|
NM_000390.4(CHM):c.502G>C (p.Glu168Gln)
|
rs1023827317
|
0.00001
|
NM_000390.4(CHM):c.962A>G (p.Tyr321Cys)
|
rs150754372
|
0.00001
|
NM_000489.6(ATRX):c.1206T>A (p.Ile402=)
|
rs782635950
|
0.00001
|
NM_000489.6(ATRX):c.1236C>A (p.Asp412Glu)
|
rs951634317
|
0.00001
|
NM_000489.6(ATRX):c.1346C>G (p.Pro449Arg)
|
rs782163488
|
0.00001
|
NM_000489.6(ATRX):c.1366G>A (p.Asp456Asn)
|
rs782313786
|
0.00001
|
NM_000489.6(ATRX):c.1477C>T (p.His493Tyr)
|
rs1041529012
|
0.00001
|
NM_000489.6(ATRX):c.1492A>G (p.Arg498Gly)
|
rs781942266
|
0.00001
|
NM_000489.6(ATRX):c.1526C>G (p.Thr509Ser)
|
rs1557141410
|
0.00001
|
NM_000489.6(ATRX):c.16A>G (p.Met6Val)
|
rs782080475
|
0.00001
|
NM_000489.6(ATRX):c.1709A>G (p.Asn570Ser)
|
rs782517450
|
0.00001
|
NM_000489.6(ATRX):c.1733C>G (p.Thr578Ser)
|
rs782715901
|
0.00001
|
NM_000489.6(ATRX):c.1885C>G (p.Leu629Val)
|
rs1198114357
|
0.00001
|
NM_000489.6(ATRX):c.1960C>G (p.Arg654Gly)
|
rs1557140492
|
0.00001
|
NM_000489.6(ATRX):c.2066A>G (p.Gln689Arg)
|
rs929951326
|
0.00001
|
NM_000489.6(ATRX):c.2083G>C (p.Val695Leu)
|
rs571313578
|
0.00001
|
NM_000489.6(ATRX):c.2348G>C (p.Ser783Thr)
|
rs782530243
|
0.00001
|
NM_000489.6(ATRX):c.2472G>C (p.Glu824Asp)
|
rs1557139572
|
0.00001
|
NM_000489.6(ATRX):c.2648A>G (p.Gln883Arg)
|
rs587778086
|
0.00001
|
NM_000489.6(ATRX):c.2656G>C (p.Glu886Gln)
|
rs782374254
|
0.00001
|
NM_000489.6(ATRX):c.2695A>G (p.Thr899Ala)
|
rs2071278709
|
0.00001
|
NM_000489.6(ATRX):c.2782G>C (p.Glu928Gln)
|
rs797044792
|
0.00001
|
NM_000489.6(ATRX):c.2787G>C (p.Glu929Asp)
|
rs782283059
|
0.00001
|
NM_000489.6(ATRX):c.278A>T (p.Asp93Val)
|
rs1064796774
|
0.00001
|
NM_000489.6(ATRX):c.2890A>G (p.Ile964Val)
|
rs1271635013
|
0.00001
|
NM_000489.6(ATRX):c.3287T>G (p.Leu1096Trp)
|
rs1337990307
|
0.00001
|
NM_000489.6(ATRX):c.3306G>A (p.Arg1102=)
|
rs782279780
|
0.00001
|
NM_000489.6(ATRX):c.3314A>G (p.Gln1105Arg)
|
rs1569538747
|
0.00001
|
NM_000489.6(ATRX):c.3395T>C (p.Ile1132Thr)
|
rs587780285
|
0.00001
|
NM_000489.6(ATRX):c.3538A>G (p.Ile1180Val)
|
rs782554626
|
0.00001
|
NM_000489.6(ATRX):c.3555G>C (p.Lys1185Asn)
|
rs782696086
|
0.00001
|
NM_000489.6(ATRX):c.3623T>C (p.Ile1208Thr)
|
rs374291079
|
0.00001
|
NM_000489.6(ATRX):c.3655G>A (p.Gly1219Arg)
|
rs1057524797
|
0.00001
|
NM_000489.6(ATRX):c.3850C>T (p.Leu1284Phe)
|
rs782619383
|
0.00001
|
NM_000489.6(ATRX):c.3885G>A (p.Glu1295=)
|
rs781858736
|
0.00001
|
NM_000489.6(ATRX):c.4002A>T (p.Pro1334=)
|
rs782625886
|
0.00001
|
NM_000489.6(ATRX):c.4072A>G (p.Thr1358Ala)
|
rs781912326
|
0.00001
|
NM_000489.6(ATRX):c.4177G>C (p.Val1393Leu)
|
rs147331649
|
0.00001
|
NM_000489.6(ATRX):c.4201C>T (p.Arg1401Trp)
|
rs1557119999
|
0.00001
|
NM_000489.6(ATRX):c.4203G>A (p.Arg1401=)
|
rs1399734659
|
0.00001
|
NM_000489.6(ATRX):c.4956+3A>G
|
rs1434725771
|
0.00001
|
NM_000489.6(ATRX):c.5068G>A (p.Ala1690Thr)
|
rs2068194249
|
0.00001
|
NM_000489.6(ATRX):c.5559C>T (p.His1853=)
|
rs1557096973
|
0.00001
|
NM_000489.6(ATRX):c.5786+5A>G
|
rs782475014
|
0.00001
|
NM_000489.6(ATRX):c.5935G>C (p.Val1979Leu)
|
rs782773652
|
0.00001
|
NM_000489.6(ATRX):c.631C>T (p.Arg211Cys)
|
rs782241890
|
0.00001
|
NM_000489.6(ATRX):c.672G>A (p.Ala224=)
|
rs782223625
|
0.00001
|
NM_000489.6(ATRX):c.7379A>G (p.Tyr2460Cys)
|
rs782169215
|
0.00001
|
NM_000489.6(ATRX):c.847G>A (p.Val283Ile)
|
rs1057522580
|
0.00001
|
NM_001399.5(EDA):c.234T>C (p.Leu78=)
|
rs1569272277
|
0.00001
|
NM_001399.5(EDA):c.249C>G (p.Thr83=)
|
rs769141538
|
0.00001
|
NM_033380.3(COL4A5):c.142-4G>T
|
rs780759600
|
0.00001
|
NM_033380.3(COL4A5):c.1635T>G (p.Gly545=)
|
rs1329747854
|
0.00001
|
NM_033380.3(COL4A5):c.213G>A (p.Pro71=)
|
rs764172210
|
0.00001
|
NM_033380.3(COL4A5):c.2290C>T (p.Leu764Phe)
|
rs2066735216
|
0.00001
|
NM_033380.3(COL4A5):c.2362C>T (p.Arg788Cys)
|
rs762935451
|
0.00001
|
NM_033380.3(COL4A5):c.2466A>G (p.Gly822=)
|
rs375746429
|
0.00001
|
NM_033380.3(COL4A5):c.2657C>G (p.Ala886Gly)
|
rs367714441
|
0.00001
|
NM_033380.3(COL4A5):c.3084C>T (p.Thr1028=)
|
rs141043288
|
0.00001
|
NM_033380.3(COL4A5):c.3878C>T (p.Pro1293Leu)
|
rs1397121500
|
0.00001
|
NM_033380.3(COL4A5):c.4726C>G (p.Pro1576Ala)
|
rs747041833
|
0.00001
|
NM_033380.3(COL4A5):c.779A>G (p.Gln260Arg)
|
rs372889859
|
0.00001
|
NM_000033.4(ABCD1):c.-20C>T
|
rs782004770
|
|
NM_000033.4(ABCD1):c.1053C>T (p.Ile351=)
|
rs1887821307
|
|
NM_000033.4(ABCD1):c.1092C>G (p.Ala364=)
|
rs782250326
|
|
NM_000033.4(ABCD1):c.1114AAG[1] (p.Lys373del)
|
rs782627940
|
|
NM_000033.4(ABCD1):c.1326C>T (p.Asp442=)
|
rs782419455
|
|
NM_000033.4(ABCD1):c.1367G>A (p.Arg456His)
|
rs782159028
|
|
NM_000033.4(ABCD1):c.1390C>T (p.Arg464Ter)
|
rs128624221
|
|
NM_000033.4(ABCD1):c.1415_1416del (p.Gln472fs)
|
rs387906494
|
|
NM_000033.4(ABCD1):c.1489-6del
|
rs398123101
|
|
NM_000033.4(ABCD1):c.1568T>C (p.Leu523Pro)
|
rs2091762647
|
|
NM_000033.4(ABCD1):c.1615A>G (p.Met539Val)
|
rs782440686
|
|
NM_000033.4(ABCD1):c.1675T>C (p.Tyr559His)
|
rs2091764510
|
|
NM_000033.4(ABCD1):c.1706A>G (p.Lys569Arg)
|
rs2091764661
|
|
NM_000033.4(ABCD1):c.1849C>T (p.Arg617Cys)
|
rs4010613
|
|
NM_000033.4(ABCD1):c.1900G>A (p.Ala634Thr)
|
rs782041940
|
|
NM_000033.4(ABCD1):c.2043C>G (p.Phe681Leu)
|
rs782327280
|
|
NM_000033.4(ABCD1):c.2078C>T (p.Thr693Met)
|
rs782311214
|
|
NM_000033.4(ABCD1):c.208G>C (p.Val70Leu)
|
rs782701925
|
|
NM_000033.4(ABCD1):c.2221C>T (p.Gln741Ter)
|
rs2091776291
|
|
NM_000033.4(ABCD1):c.238C>T (p.Arg80Trp)
|
rs868977355
|
|
NM_000033.4(ABCD1):c.488G>A (p.Arg163His)
|
rs1057517954
|
|
NM_000033.4(ABCD1):c.521A>G (p.Tyr174Cys)
|
rs1557052390
|
|
NM_000033.4(ABCD1):c.615G>A (p.Ala205=)
|
rs782601474
|
|
NM_000033.4(ABCD1):c.696G>A (p.Ala232=)
|
rs147595334
|
|
NM_000033.4(ABCD1):c.839G>A (p.Arg280His)
|
rs781904944
|
|
NM_000052.7(ATP7A):c.1639C>T (p.Arg547Ter)
|
rs797045332
|
|
NM_000052.7(ATP7A):c.1933C>T (p.Arg645Ter)
|
rs72554640
|
|
NM_000052.7(ATP7A):c.2383C>T (p.Arg795Ter)
|
rs72554645
|
|
NM_000052.7(ATP7A):c.2815G>A (p.Gly939Ser)
|
rs1569550056
|
|
NM_000052.7(ATP7A):c.4102G>A (p.Val1368Ile)
|
rs782483019
|
|
NM_000252.3(MTM1):c.1054-9_1054-6del
|
rs782691958
|
|
NM_000252.3(MTM1):c.141_144del
|
rs587783791
|
|
NM_000252.3(MTM1):c.1667G>A (p.Arg556His)
|
rs372735301
|
|
NM_000252.3(MTM1):c.1753C>G (p.Pro585Ala)
|
rs1195705222
|
|
NM_000252.3(MTM1):c.439A>G (p.Ser147Gly)
|
rs964287315
|
|
NM_000252.3(MTM1):c.912C>T (p.Ala304=)
|
rs782504569
|
|
NM_000330.4(RS1):c.286T>C (p.Trp96Arg)
|
rs61752063
|
|
NM_000330.4(RS1):c.523-10_523-7del
|
rs746069375
|
|
NM_000330.4(RS1):c.574C>T (p.Pro192Ser)
|
rs61753174
|
|
NM_000390.4(CHM):c.1245-8_1245-6del
|
rs766694606
|
|
NM_000390.4(CHM):c.1275G>C (p.Gln425His)
|
rs763252149
|
|
NM_000390.4(CHM):c.1511-6del
|
rs775072539
|
|
NM_000390.4(CHM):c.1920G>A (p.Lys640=)
|
rs748006115
|
|
NM_000390.4(CHM):c.447G>T (p.Met149Ile)
|
rs746057999
|
|
NM_000390.4(CHM):c.591T>C (p.Ser197=)
|
rs1429958944
|
|
NM_000390.4(CHM):c.5C>T (p.Ala2Val)
|
rs1185313651
|
|
NM_000390.4(CHM):c.6G>T (p.Ala2=)
|
rs773939161
|
|
NM_000390.4(CHM):c.715C>T (p.Arg239Ter)
|
rs776256380
|
|
NM_000390.4(CHM):c.808C>T (p.Arg270Ter)
|
rs527236048
|
|
NM_000390.4(CHM):c.926C>T (p.Pro309Leu)
|
rs1930084200
|
|
NM_000489.6(ATRX):c.1057A>G (p.Ile353Val)
|
rs2071424254
|
|
NM_000489.6(ATRX):c.1075C>G (p.Leu359Val)
|
rs2071423786
|
|
NM_000489.6(ATRX):c.1212G>C (p.Lys404Asn)
|
rs2071413817
|
|
NM_000489.6(ATRX):c.1264G>A (p.Ala422Thr)
|
rs1424850007
|
|
NM_000489.6(ATRX):c.1322_1324del (p.Thr441del)
|
rs1569539303
|
|
NM_000489.6(ATRX):c.1509A>G (p.Gln503=)
|
rs1039587651
|
|
NM_000489.6(ATRX):c.1827A>G (p.Pro609=)
|
rs1603222884
|
|
NM_000489.6(ATRX):c.1842C>T (p.Gly614=)
|
rs2071364653
|
|
NM_000489.6(ATRX):c.1846A>G (p.Lys616Glu)
|
rs2071363928
|
|
NM_000489.6(ATRX):c.189+5G>A
|
rs2072317981
|
|
NM_000489.6(ATRX):c.1910A>G (p.Glu637Gly)
|
rs2071360128
|
|
NM_000489.6(ATRX):c.1938A>G (p.Leu646=)
|
rs2148611303
|
|
NM_000489.6(ATRX):c.1955A>T (p.Asp652Val)
|
rs2071357500
|
|
NM_000489.6(ATRX):c.1A>G (p.Met1Val)
|
rs2076735328
|
|
NM_000489.6(ATRX):c.2200A>G (p.Met734Val)
|
rs2071339556
|
|
NM_000489.6(ATRX):c.2262T>G (p.Ile754Met)
|
rs1557140015
|
|
NM_000489.6(ATRX):c.2592G>T (p.Gly864=)
|
rs782526944
|
|
NM_000489.6(ATRX):c.2595C>G (p.His865Gln)
|
rs61752455
|
|
NM_000489.6(ATRX):c.2633A>G (p.Asp878Gly)
|
rs2071285505
|
|
NM_000489.6(ATRX):c.2686G>C (p.Asp896His)
|
rs2071279824
|
|
NM_000489.6(ATRX):c.2830_2832del (p.Glu944del)
|
rs1338172022
|
|
NM_000489.6(ATRX):c.2870T>C (p.Val957Ala)
|
rs2148587031
|
|
NM_000489.6(ATRX):c.2906T>C (p.Leu969Pro)
|
rs2071260958
|
|
NM_000489.6(ATRX):c.3170A>T (p.Lys1057Met)
|
rs2071238285
|
|
NM_000489.6(ATRX):c.3200C>T (p.Ser1067Leu)
|
rs2071236443
|
|
NM_000489.6(ATRX):c.3417T>C (p.Asn1139=)
|
rs1603216127
|
|
NM_000489.6(ATRX):c.39A>G (p.Thr13=)
|
rs1244422748
|
|
NM_000489.6(ATRX):c.4318-10A>C
|
rs781946372
|
|
NM_000489.6(ATRX):c.4332AGA[1] (p.Glu1448del)
|
rs1356648720
|
|
NM_000489.6(ATRX):c.4344_4358del (p.Lys1449_Glu1453del)
|
rs1557117436
|
|
NM_000489.6(ATRX):c.4347AGA[1] (p.Glu1464del)
|
rs587780288
|
|
NM_000489.6(ATRX):c.4660A>G (p.Arg1554Gly)
|
rs2068328911
|
|
NM_000489.6(ATRX):c.5566+5A>C
|
rs782212670
|
|
NM_000489.6(ATRX):c.5787-24GTTT[4]
|
rs782072699
|
|
NM_000489.6(ATRX):c.5968TCT[2] (p.Ser1992del)
|
rs782391479
|
|
NM_000489.6(ATRX):c.649G>A (p.Asp217Asn)
|
rs2071472042
|
|
NM_000489.6(ATRX):c.6699+10T>C
|
rs1602531185
|
|
NM_000489.6(ATRX):c.711T>C (p.Asn237=)
|
rs782710787
|
|
NM_000489.6(ATRX):c.7200+10C>G
|
rs781824017
|
|
NM_000489.6(ATRX):c.736C>T (p.Arg246Cys)
|
rs122445105
|
|
NM_001399.5(EDA):c.1104C>T (p.Asp368=)
|
rs150292516
|
|
NM_001399.5(EDA):c.1116C>G (p.Asn372Lys)
|
rs2020255486
|
|
NM_001399.5(EDA):c.354G>C (p.Pro118=)
|
rs762842929
|
|
NM_001399.5(EDA):c.572_589del (p.188_190PGP[1])
|
rs397516668
|
|
NM_001399.5(EDA):c.97C>T (p.Arg33Trp)
|
rs1168030930
|
|
NM_033380.3(COL4A5):c.-25_-8dup
|
rs752443408
|
|
NM_033380.3(COL4A5):c.1032+17del
|
rs761615270
|
|
NM_033380.3(COL4A5):c.1032+17dup
|
rs761615270
|
|
NM_033380.3(COL4A5):c.1047T>C (p.Pro349=)
|
rs1166405194
|
|
NM_033380.3(COL4A5):c.1117C>T (p.Arg373Ter)
|
rs104886094
|
|
NM_033380.3(COL4A5):c.1376dup (p.Gly460fs)
|
rs104886113
|
|
NM_033380.3(COL4A5):c.1948+4A>C
|
rs1311897513
|
|
NM_033380.3(COL4A5):c.2510-1_2514del
|
rs2147859764
|
|
NM_033380.3(COL4A5):c.2605G>A (p.Gly869Arg)
|
rs104886189
|
|
NM_033380.3(COL4A5):c.3357C>A (p.Gly1119=)
|
rs773019423
|
|
NM_033380.3(COL4A5):c.3829C>A (p.Pro1277Thr)
|
rs761470284
|
|
NM_033380.3(COL4A5):c.385G>A (p.Gly129Arg)
|
rs281874722
|
|
NM_033380.3(COL4A5):c.406A>G (p.Ser136Gly)
|
rs768580195
|
|
NM_033380.3(COL4A5):c.40T>G (p.Leu14Val)
|
rs760570519
|
|
NM_033380.3(COL4A5):c.4282C>T (p.Arg1428Cys)
|
rs144282156
|
|
NM_033380.3(COL4A5):c.4529-6T>C
|
rs775079914
|
|
NM_033380.3(COL4A5):c.4652T>C (p.Met1551Thr)
|
rs1057518146
|
|
NM_033380.3(COL4A5):c.4964T>G (p.Leu1655Arg)
|
rs104886303
|
|
NM_033380.3(COL4A5):c.4972G>C (p.Val1658Leu)
|
rs2068718130
|
|