NM_000489.6(ATRX):c.2785= (p.Glu929=)
|
rs3088074
|
0.49116
|
NM_000489.6(ATRX):c.3943+143=
|
rs5912227
|
0.49062
|
NM_000489.6(ATRX):c.595-36=
|
rs35268552
|
0.48850
|
NM_000489.6(ATRX):c.6110+226=
|
rs3027544
|
0.46359
|
NM_000489.6(ATRX):c.6218-297A>G
|
rs3027539
|
0.05879
|
NM_000489.6(ATRX):c.4659T>C (p.His1553=)
|
rs25641
|
0.05840
|
NM_000489.6(ATRX):c.4214+236C>T
|
rs34060420
|
0.05131
|
NM_000489.6(ATRX):c.6217+244G>A
|
rs45526440
|
0.03567
|
NM_000489.6(ATRX):c.4121-248A>G
|
rs3761508
|
0.03537
|
NM_000489.6(ATRX):c.3944-266C>T
|
rs112759632
|
0.03044
|
NM_000489.6(ATRX):c.228G>A (p.Ser76=)
|
rs5959371
|
0.03016
|
NM_000489.6(ATRX):c.6110+81C>T
|
rs45612438
|
0.02559
|
NM_000489.6(ATRX):c.4317+301C>T
|
rs148638497
|
0.02523
|
NM_000489.6(ATRX):c.6975+146C>T
|
rs45509291
|
0.02014
|
NM_000489.6(ATRX):c.6111-146A>G
|
rs45503998
|
0.01689
|
NM_000489.6(ATRX):c.4557+33G>A
|
rs5912716
|
0.01177
|
NM_000489.6(ATRX):c.288A>G (p.Lys96=)
|
rs45574238
|
0.01127
|
NM_000489.6(ATRX):c.243-97G>C
|
rs41307399
|
0.01110
|
NM_000489.6(ATRX):c.190-117G>A
|
rs45489496
|
0.00882
|
NM_000489.6(ATRX):c.6111-68del
|
rs200678890
|
0.00860
|
NM_000489.6(ATRX):c.4558-185C>T
|
rs45606642
|
0.00853
|
NM_000489.6(ATRX):c.*213C>T
|
rs3027524
|
0.00674
|
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_000489.6(ATRX):c.20+22T>C
|
rs45558235
|
0.00497
|
NM_000489.6(ATRX):c.5134+41A>T
|
rs45471991
|
0.00421
|
NM_000489.6(ATRX):c.4318-167C>T
|
rs186123317
|
0.00409
|
NM_000489.6(ATRX):c.3809+60A>C
|
rs185436258
|
0.00382
|
NM_000489.6(ATRX):c.6976-202A>C
|
rs3027526
|
0.00381
|
NM_000489.6(ATRX):c.4635C>A (p.Thr1545=)
|
rs148975763
|
0.00350
|
NM_000489.6(ATRX):c.6110+132G>C
|
rs45567835
|
0.00315
|
NM_000489.6(ATRX):c.3810-171T>C
|
rs183973145
|
0.00309
|
NM_000489.6(ATRX):c.6849+31G>T
|
rs184484318
|
0.00273
|
NM_000489.6(ATRX):c.134-304G>A
|
rs782268751
|
0.00178
|
NM_000489.6(ATRX):c.3541G>C (p.Val1181Leu)
|
rs61758732
|
0.00137
|
NM_000489.6(ATRX):c.5448+124T>C
|
rs181328728
|
0.00137
|
NM_000489.6(ATRX):c.4239A>G (p.Glu1413=)
|
rs141974120
|
0.00129
|
NM_000489.6(ATRX):c.6504+36T>C
|
rs112091492
|
0.00122
|
NM_000489.6(ATRX):c.846C>T (p.Ser282=)
|
rs148015780
|
0.00101
|
NM_000489.6(ATRX):c.5787-20G>T
|
rs185359850
|
0.00090
|
NM_000489.6(ATRX):c.2540T>C (p.Phe847Ser)
|
rs45624939
|
0.00075
|
NM_000489.6(ATRX):c.2531C>A (p.Thr844Lys)
|
rs139131007
|
0.00056
|
NM_000489.6(ATRX):c.5349A>G (p.Pro1783=)
|
rs149960511
|
0.00056
|
NM_000489.6(ATRX):c.6850-31T>A
|
rs370958666
|
0.00052
|
NM_000489.6(ATRX):c.1423C>G (p.His475Asp)
|
rs146863015
|
0.00050
|
NM_000489.6(ATRX):c.4120+4A>C
|
rs200420513
|
0.00046
|
NM_000489.6(ATRX):c.190-40G>A
|
rs374828845
|
0.00041
|
NM_000489.6(ATRX):c.2169G>C (p.Glu723Asp)
|
rs61752456
|
0.00041
|
NM_000489.6(ATRX):c.3641A>T (p.Asn1214Ile)
|
rs144527582
|
0.00037
|
NM_000489.6(ATRX):c.1303A>G (p.Ile435Val)
|
rs371580333
|
0.00027
|
NM_000489.6(ATRX):c.2680A>C (p.Thr894Pro)
|
rs145807475
|
0.00026
|
NM_000489.6(ATRX):c.1825C>G (p.Pro609Ala)
|
rs186742436
|
0.00024
|
NM_000489.6(ATRX):c.5968T>A (p.Ser1990Thr)
|
rs142180002
|
0.00024
|
NM_000489.6(ATRX):c.6218-34A>C
|
rs781888261
|
0.00023
|
NM_000489.6(ATRX):c.6405C>T (p.Phe2135=)
|
rs148659669
|
0.00023
|
NM_000489.6(ATRX):c.1467C>T (p.Thr489=)
|
rs199929884
|
0.00020
|
NM_000489.6(ATRX):c.2720G>A (p.Arg907Gln)
|
rs143413618
|
0.00020
|
NM_000489.6(ATRX):c.4215-5G>A
|
rs111833322
|
0.00018
|
NM_000489.6(ATRX):c.2650G>A (p.Glu884Lys)
|
rs200343648
|
0.00013
|
NM_000489.6(ATRX):c.546A>G (p.Gln182=)
|
rs375794120
|
0.00012
|
NM_000489.6(ATRX):c.5787-21T>C
|
rs781885349
|
0.00011
|
NM_000489.6(ATRX):c.1256C>T (p.Ala419Val)
|
rs374958282
|
0.00010
|
NM_000489.6(ATRX):c.3880G>C (p.Asp1294His)
|
rs782386546
|
0.00010
|
NM_000489.6(ATRX):c.4214+6A>G
|
rs782562759
|
0.00010
|
NM_000489.6(ATRX):c.6871A>G (p.Ile2291Val)
|
rs374244026
|
0.00010
|
NM_000489.6(ATRX):c.1606A>G (p.Met536Val)
|
rs781865069
|
0.00009
|
NM_000489.6(ATRX):c.189+7A>G
|
rs781842591
|
0.00009
|
NM_000489.6(ATRX):c.570T>G (p.Pro190=)
|
rs188831993
|
0.00009
|
NM_000489.6(ATRX):c.798C>T (p.Tyr266=)
|
rs376341197
|
0.00009
|
NM_000489.6(ATRX):c.1798A>G (p.Ile600Val)
|
rs375129029
|
0.00008
|
NM_000489.6(ATRX):c.5221A>C (p.Arg1741=)
|
rs782633224
|
0.00008
|
NM_000489.6(ATRX):c.595-43T>C
|
rs782072325
|
0.00008
|
NM_000489.6(ATRX):c.1168C>T (p.Arg390Cys)
|
rs150484080
|
0.00007
|
NM_000489.6(ATRX):c.1245C>T (p.Ser415=)
|
rs141815992
|
0.00007
|
NM_000489.6(ATRX):c.4130A>G (p.Glu1377Gly)
|
rs782553301
|
0.00007
|
NM_000489.6(ATRX):c.1033G>A (p.Ala345Thr)
|
rs149249195
|
0.00006
|
NM_000489.6(ATRX):c.2000C>T (p.Pro667Leu)
|
rs61752457
|
0.00006
|
NM_000489.6(ATRX):c.2312C>T (p.Ala771Val)
|
rs376906761
|
0.00006
|
NM_000489.6(ATRX):c.3218G>C (p.Ser1073Thr)
|
rs781825074
|
0.00006
|
NM_000489.6(ATRX):c.4859G>A (p.Ser1620Asn)
|
rs781875880
|
0.00006
|
NM_000489.6(ATRX):c.1077G>T (p.Leu359=)
|
rs782504858
|
0.00005
|
NM_000489.6(ATRX):c.1169G>A (p.Arg390His)
|
rs367986587
|
0.00005
|
NM_000489.6(ATRX):c.1478A>G (p.His493Arg)
|
rs947189709
|
0.00005
|
NM_000489.6(ATRX):c.2701A>G (p.Ile901Val)
|
rs587778087
|
0.00005
|
NM_000489.6(ATRX):c.3907A>G (p.Thr1303Ala)
|
rs781836912
|
0.00005
|
NM_000489.6(ATRX):c.7201-4A>G
|
rs782317502
|
0.00005
|
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.1625T>C (p.Val542Ala)
|
rs782158232
|
0.00004
|
NM_000489.6(ATRX):c.2423G>A (p.Arg808Gln)
|
rs782181535
|
0.00004
|
NM_000489.6(ATRX):c.2652G>C (p.Glu884Asp)
|
rs782123222
|
0.00004
|
NM_000489.6(ATRX):c.3042T>C (p.Asp1014=)
|
rs140476563
|
0.00004
|
NM_000489.6(ATRX):c.3207G>A (p.Gly1069=)
|
rs782472957
|
0.00004
|
NM_000489.6(ATRX):c.7439G>A (p.Arg2480Lys)
|
rs369871569
|
0.00004
|
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.2150C>T (p.Pro717Leu)
|
rs372617572
|
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.5073A>G (p.Gln1691=)
|
rs781845474
|
0.00003
|
NM_000489.6(ATRX):c.5697+13A>C
|
rs782387510
|
0.00003
|
NM_000489.6(ATRX):c.6024T>C (p.Asp2008=)
|
rs782159753
|
0.00003
|
NM_000489.6(ATRX):c.738C>T (p.Arg246=)
|
rs781856746
|
0.00003
|
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.1474G>A (p.Glu492Lys)
|
rs1418531949
|
0.00002
|
NM_000489.6(ATRX):c.2524C>T (p.Pro842Ser)
|
rs782196312
|
0.00002
|
NM_000489.6(ATRX):c.2658G>C (p.Glu886Asp)
|
rs141180098
|
0.00002
|
NM_000489.6(ATRX):c.2815G>C (p.Val939Leu)
|
rs149195735
|
0.00002
|
NM_000489.6(ATRX):c.2953A>G (p.Ser985Gly)
|
rs782424160
|
0.00002
|
NM_000489.6(ATRX):c.3848A>G (p.Asn1283Ser)
|
rs201588422
|
0.00002
|
NM_000489.6(ATRX):c.4070A>G (p.Lys1357Arg)
|
rs1064796812
|
0.00002
|
NM_000489.6(ATRX):c.7044A>G (p.Gln2348=)
|
rs375935735
|
0.00002
|
NM_000489.6(ATRX):c.7083C>T (p.Asn2361=)
|
rs3027525
|
0.00002
|
NM_000489.6(ATRX):c.7111G>A (p.Ala2371Thr)
|
rs147341551
|
0.00002
|
NM_000489.6(ATRX):c.1150A>C (p.Ser384Arg)
|
rs782196033
|
0.00001
|
NM_000489.6(ATRX):c.1236C>A (p.Asp412Glu)
|
rs951634317
|
0.00001
|
NM_000489.6(ATRX):c.139A>G (p.Ile47Val)
|
rs782584831
|
0.00001
|
NM_000489.6(ATRX):c.1608G>T (p.Met536Ile)
|
rs1057518436
|
0.00001
|
NM_000489.6(ATRX):c.1817A>G (p.Gln606Arg)
|
rs1557140723
|
0.00001
|
NM_000489.6(ATRX):c.1894G>A (p.Glu632Lys)
|
rs1557140572
|
0.00001
|
NM_000489.6(ATRX):c.2066A>G (p.Gln689Arg)
|
rs929951326
|
0.00001
|
NM_000489.6(ATRX):c.2116A>T (p.Ser706Cys)
|
rs918710917
|
0.00001
|
NM_000489.6(ATRX):c.2209A>G (p.Ile737Val)
|
rs782110483
|
0.00001
|
NM_000489.6(ATRX):c.250T>G (p.Ser84Ala)
|
rs1569540556
|
0.00001
|
NM_000489.6(ATRX):c.2617G>C (p.Glu873Gln)
|
rs967071645
|
0.00001
|
NM_000489.6(ATRX):c.2648A>G (p.Gln883Arg)
|
rs587778086
|
0.00001
|
NM_000489.6(ATRX):c.2692G>C (p.Asp898His)
|
rs781903868
|
0.00001
|
NM_000489.6(ATRX):c.2782G>C (p.Glu928Gln)
|
rs797044792
|
0.00001
|
NM_000489.6(ATRX):c.278A>T (p.Asp93Val)
|
rs1064796774
|
0.00001
|
NM_000489.6(ATRX):c.2875G>T (p.Asp959Tyr)
|
rs1057523431
|
0.00001
|
NM_000489.6(ATRX):c.3153T>G (p.Asp1051Glu)
|
rs1453641319
|
0.00001
|
NM_000489.6(ATRX):c.3270G>C (p.Glu1090Asp)
|
rs781992894
|
0.00001
|
NM_000489.6(ATRX):c.3395T>C (p.Ile1132Thr)
|
rs587780285
|
0.00001
|
NM_000489.6(ATRX):c.3649G>C (p.Gly1217Arg)
|
rs781917332
|
0.00001
|
NM_000489.6(ATRX):c.3655G>A (p.Gly1219Arg)
|
rs1057524797
|
0.00001
|
NM_000489.6(ATRX):c.3676A>C (p.Ile1226Leu)
|
rs1557136863
|
0.00001
|
NM_000489.6(ATRX):c.3687G>A (p.Val1229=)
|
rs1051682
|
0.00001
|
NM_000489.6(ATRX):c.4015A>G (p.Arg1339Gly)
|
rs782438788
|
0.00001
|
NM_000489.6(ATRX):c.4031A>G (p.Lys1344Arg)
|
rs782556767
|
0.00001
|
NM_000489.6(ATRX):c.4250G>A (p.Arg1417Gln)
|
rs1557118749
|
0.00001
|
NM_000489.6(ATRX):c.4383G>A (p.Glu1461=)
|
rs2069285846
|
0.00001
|
NM_000489.6(ATRX):c.4905G>T (p.Met1635Ile)
|
rs1045875195
|
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.6132C>T (p.Leu2044=)
|
rs1557079262
|
0.00001
|
NM_000489.6(ATRX):c.6223G>A (p.Gly2075Arg)
|
rs1440854109
|
0.00001
|
NM_000489.6(ATRX):c.6281C>T (p.Ser2094Leu)
|
rs782019900
|
0.00001
|
NM_000489.6(ATRX):c.631C>T (p.Arg211Cys)
|
rs782241890
|
0.00001
|
NM_000489.6(ATRX):c.6327-35T>A
|
rs782050372
|
0.00001
|
NM_000489.6(ATRX):c.7072-8T>C
|
rs782602387
|
0.00001
|
NM_000489.6(ATRX):c.847G>A (p.Val283Ile)
|
rs1057522580
|
0.00001
|
NM_000489.6(ATRX):c.909A>G (p.Glu303=)
|
rs1557142630
|
0.00001
|
GRCh38/hg38 Xq21.1(chrX:77490616-77524711)x1
|
|
|
NM_000489.6(ATRX):c.1007C>T (p.Ser336Phe)
|
|
|
NM_000489.6(ATRX):c.1043T>C (p.Val348Ala)
|
rs975407914
|
|
NM_000489.6(ATRX):c.109C>T (p.Arg37Ter)
|
rs122445108
|
|
NM_000489.6(ATRX):c.1117T>C (p.Phe373Leu)
|
|
|
NM_000489.6(ATRX):c.1157C>G (p.Ala386Gly)
|
|
|
NM_000489.6(ATRX):c.1187A>G (p.Lys396Arg)
|
|
|
NM_000489.6(ATRX):c.1196T>G (p.Leu399Trp)
|
rs2148628404
|
|
NM_000489.6(ATRX):c.1212G>C (p.Lys404Asn)
|
rs2071413817
|
|
NM_000489.6(ATRX):c.1252C>G (p.Arg418Gly)
|
rs1057523785
|
|
NM_000489.6(ATRX):c.1276G>A (p.Glu426Lys)
|
|
|
NM_000489.6(ATRX):c.1322C>G (p.Thr441Arg)
|
rs2148625660
|
|
NM_000489.6(ATRX):c.134-9C>T
|
rs782350220
|
|
NM_000489.6(ATRX):c.1516C>T (p.Pro506Ser)
|
rs1449091873
|
|
NM_000489.6(ATRX):c.1556C>A (p.Ser519Tyr)
|
rs2148619839
|
|
NM_000489.6(ATRX):c.1595T>C (p.Leu532Pro)
|
rs782509149
|
|
NM_000489.6(ATRX):c.1598A>T (p.Glu533Val)
|
|
|
NM_000489.6(ATRX):c.1601C>G (p.Thr534Ser)
|
|
|
NM_000489.6(ATRX):c.164A>G (p.Asp55Gly)
|
|
|
NM_000489.6(ATRX):c.1684A>G (p.Lys562Glu)
|
|
|
NM_000489.6(ATRX):c.1738del (p.Ala580fs)
|
rs886039493
|
|
NM_000489.6(ATRX):c.1753G>T (p.Glu585Ter)
|
rs886044898
|
|
NM_000489.6(ATRX):c.1828C>G (p.Gln610Glu)
|
|
|
NM_000489.6(ATRX):c.1865C>T (p.Pro622Leu)
|
|
|
NM_000489.6(ATRX):c.2184T>G (p.Asn728Lys)
|
rs2148604807
|
|
NM_000489.6(ATRX):c.2241TTC[2] (p.Ser750del)
|
rs1297294136
|
|
NM_000489.6(ATRX):c.2265T>G (p.Asn755Lys)
|
|
|
NM_000489.6(ATRX):c.2320G>A (p.Asp774Asn)
|
rs1557139871
|
|
NM_000489.6(ATRX):c.2320G>T (p.Asp774Tyr)
|
|
|
NM_000489.6(ATRX):c.233G>T (p.Arg78Leu)
|
|
|
NM_000489.6(ATRX):c.2342G>A (p.Arg781Gln)
|
rs1603220762
|
|
NM_000489.6(ATRX):c.2384G>A (p.Gly795Asp)
|
rs892981661
|
|
NM_000489.6(ATRX):c.2461_2466del (p.Leu821_Glu822del)
|
rs781862926
|
|
NM_000489.6(ATRX):c.24A>C (p.Glu8Asp)
|
rs2148752831
|
|
NM_000489.6(ATRX):c.2541T>G (p.Phe847Leu)
|
rs782483240
|
|
NM_000489.6(ATRX):c.2557G>A (p.Glu853Lys)
|
rs2148594511
|
|
NM_000489.6(ATRX):c.2595C>G (p.His865Gln)
|
rs61752455
|
|
NM_000489.6(ATRX):c.259A>G (p.Thr87Ala)
|
rs1557150036
|
|
NM_000489.6(ATRX):c.2606A>G (p.Lys869Arg)
|
|
|
NM_000489.6(ATRX):c.2621G>C (p.Gly874Ala)
|
rs782339652
|
|
NM_000489.6(ATRX):c.2647C>A (p.Gln883Lys)
|
rs868926015
|
|
NM_000489.6(ATRX):c.264G>A (p.Lys88=)
|
rs782056075
|
|
NM_000489.6(ATRX):c.26G>A (p.Ser9Asn)
|
|
|
NM_000489.6(ATRX):c.2743A>G (p.Ser915Gly)
|
rs2071273880
|
|
NM_000489.6(ATRX):c.2761G>A (p.Val921Ile)
|
|
|
NM_000489.6(ATRX):c.2777G>A (p.Gly926Glu)
|
rs2071271385
|
|
NM_000489.6(ATRX):c.2782GAG[1] (p.Glu929del)
|
|
|
NM_000489.6(ATRX):c.3015G>A (p.Met1005Ile)
|
|
|
NM_000489.6(ATRX):c.3122A>T (p.Asp1041Val)
|
|
|
NM_000489.6(ATRX):c.3266_3274del (p.Arg1089_Lys1091del)
|
|
|
NM_000489.6(ATRX):c.3392G>C (p.Arg1131Thr)
|
rs2071220353
|
|
NM_000489.6(ATRX):c.3495_3500del (p.Asn1165_Lys1166del)
|
rs1557137281
|
|
NM_000489.6(ATRX):c.3545A>G (p.Lys1182Arg)
|
|
|
NM_000489.6(ATRX):c.3546G>C (p.Lys1182Asn)
|
rs1490780716
|
|
NM_000489.6(ATRX):c.3589C>G (p.Gln1197Glu)
|
|
|
NM_000489.6(ATRX):c.3592G>C (p.Ala1198Pro)
|
rs2071202324
|
|
NM_000489.6(ATRX):c.3641A>G (p.Asn1214Ser)
|
rs144527582
|
|
NM_000489.6(ATRX):c.3644C>T (p.Ser1215Phe)
|
rs2148568049
|
|
NM_000489.6(ATRX):c.3647T>C (p.Ile1216Thr)
|
rs2148567965
|
|
NM_000489.6(ATRX):c.3670C>G (p.Gln1224Glu)
|
rs1057522687
|
|
NM_000489.6(ATRX):c.371-2A>G
|
rs1557148369
|
|
NM_000489.6(ATRX):c.3736+61_3736+62del
|
rs45577534
|
|
NM_000489.6(ATRX):c.3789C>T (p.Asp1263=)
|
rs2148543032
|
|
NM_000489.6(ATRX):c.3933A>G (p.Pro1311=)
|
rs2148496532
|
|
NM_000489.6(ATRX):c.3943+3G>T
|
rs781888847
|
|
NM_000489.6(ATRX):c.3968A>T (p.Glu1323Val)
|
rs2148489892
|
|
NM_000489.6(ATRX):c.3974A>G (p.Asp1325Gly)
|
|
|
NM_000489.6(ATRX):c.4004G>T (p.Arg1335Ile)
|
rs1569536694
|
|
NM_000489.6(ATRX):c.4035G>C (p.Leu1345Phe)
|
|
|
NM_000489.6(ATRX):c.4120+296C>T
|
rs144831818
|
|
NM_000489.6(ATRX):c.4126A>G (p.Ser1376Gly)
|
|
|
NM_000489.6(ATRX):c.415G>T (p.Asp139Tyr)
|
rs2148669890
|
|
NM_000489.6(ATRX):c.4169G>A (p.Ser1390Asn)
|
rs2148460882
|
|
NM_000489.6(ATRX):c.4215-4T>A
|
rs2148451946
|
|
NM_000489.6(ATRX):c.4312A>G (p.Asn1438Asp)
|
rs971839925
|
|
NM_000489.6(ATRX):c.4318-157dup
|
rs368160215
|
|
NM_000489.6(ATRX):c.4321A>C (p.Asn1441His)
|
rs2148440711
|
|
NM_000489.6(ATRX):c.4338GGA[1] (p.Glu1448del)
|
rs782410402
|
|
NM_000489.6(ATRX):c.4344_4358del (p.Lys1449_Glu1453del)
|
rs1557117436
|
|
NM_000489.6(ATRX):c.4353GGA[2] (p.Glu1464del)
|
rs782630348
|
|
NM_000489.6(ATRX):c.4365GGA[4] (p.Glu1464del)
|
rs398123423
|
|
NM_000489.6(ATRX):c.4365GGA[6] (p.Glu1464dup)
|
rs398123423
|
|
NM_000489.6(ATRX):c.4506_4507insGTAGAG (p.Glu1502_Arg1503insValGlu)
|
rs2148436383
|
|
NM_000489.6(ATRX):c.4509A>T (p.Arg1503Ser)
|
rs1057517997
|
|
NM_000489.6(ATRX):c.4582C>A (p.Pro1528Thr)
|
rs2148360412
|
|
NM_000489.6(ATRX):c.4620TGAAGA[1] (p.1540DE[1])
|
rs797045406
|
|
NM_000489.6(ATRX):c.467A>G (p.Asn156Ser)
|
rs2148669776
|
|
NM_000489.6(ATRX):c.4754C>T (p.Ser1585Phe)
|
|
|
NM_000489.6(ATRX):c.4810-19A>G
|
rs1557106791
|
|
NM_000489.6(ATRX):c.4810-37G>T
|
rs781964325
|
|
NM_000489.6(ATRX):c.4826A>G (p.His1609Arg)
|
rs122445093
|
|
NM_000489.6(ATRX):c.484+57A>C
|
rs782659412
|
|
NM_000489.6(ATRX):c.485-7C>G
|
rs1225852818
|
|
NM_000489.6(ATRX):c.4865C>T (p.Ala1622Val)
|
rs1135401793
|
|
NM_000489.6(ATRX):c.4882C>T (p.Leu1628Phe)
|
|
|
NM_000489.6(ATRX):c.4957-4A>G
|
rs1602979818
|
|
NM_000489.6(ATRX):c.5011A>T (p.Arg1671Trp)
|
|
|
NM_000489.6(ATRX):c.5087_5089dup (p.Lys1696dup)
|
rs1557106446
|
|
NM_000489.6(ATRX):c.517G>A (p.Ala173Thr)
|
rs1064795090
|
|
NM_000489.6(ATRX):c.5212A>G (p.Ile1738Val)
|
rs1057523890
|
|
NM_000489.6(ATRX):c.5215C>T (p.Arg1739Ter)
|
|
|
NM_000489.6(ATRX):c.5222G>A (p.Arg1741Lys)
|
rs1448764008
|
|
NM_000489.6(ATRX):c.5281A>G (p.Met1761Val)
|
rs2148260943
|
|
NM_000489.6(ATRX):c.5287A>G (p.Asn1763Asp)
|
|
|
NM_000489.6(ATRX):c.5342T>C (p.Ile1781Thr)
|
rs2148259855
|
|
NM_000489.6(ATRX):c.536A>G (p.Asn179Ser)
|
rs398123425
|
|
NM_000489.6(ATRX):c.5456A>T (p.Asp1819Val)
|
|
|
NM_000489.6(ATRX):c.5540A>T (p.Tyr1847Phe)
|
rs1057521987
|
|
NM_000489.6(ATRX):c.5551T>C (p.Leu1851=)
|
rs2067368640
|
|
NM_000489.6(ATRX):c.5566+5A>C
|
rs782212670
|
|
NM_000489.6(ATRX):c.5617T>C (p.Phe1873Leu)
|
|
|
NM_000489.6(ATRX):c.5722G>T (p.Asp1908Tyr)
|
rs1057522290
|
|
NM_000489.6(ATRX):c.5773G>A (p.Asp1925Asn)
|
|
|
NM_000489.6(ATRX):c.5787-24G>T
|
rs45608236
|
|
NM_000489.6(ATRX):c.5787-24GTTT[4]
|
rs782072699
|
|
NM_000489.6(ATRX):c.5787-24GTTT[6]
|
rs782072699
|
|
NM_000489.6(ATRX):c.595-66G>C
|
rs192917355
|
|
NM_000489.6(ATRX):c.5957-1G>A
|
rs886041903
|
|
NM_000489.6(ATRX):c.5968TCT[2] (p.Ser1992del)
|
rs782391479
|
|
NM_000489.6(ATRX):c.5975C>A (p.Ser1992Tyr)
|
|
|
NM_000489.6(ATRX):c.599G>T (p.Cys200Phe)
|
rs886041700
|
|
NM_000489.6(ATRX):c.6085A>G (p.Met2029Val)
|
rs2148115836
|
|
NM_000489.6(ATRX):c.6097A>G (p.Ile2033Val)
|
rs1057521636
|
|
NM_000489.6(ATRX):c.6142G>T (p.Asp2048Tyr)
|
|
|
NM_000489.6(ATRX):c.6147G>A (p.Leu2049=)
|
rs2148090041
|
|
NM_000489.6(ATRX):c.6169G>C (p.Ala2057Pro)
|
rs2148089567
|
|
NM_000489.6(ATRX):c.6202C>T (p.Pro2068Ser)
|
rs1557079194
|
|
NM_000489.6(ATRX):c.6253C>T (p.Arg2085Cys)
|
rs2148019913
|
|
NM_000489.6(ATRX):c.6254G>A (p.Arg2085His)
|
rs1057517948
|
|
NM_000489.6(ATRX):c.632G>A (p.Arg211His)
|
|
|
NM_000489.6(ATRX):c.6392G>A (p.Arg2131Gln)
|
rs122445101
|
|
NM_000489.6(ATRX):c.6406G>A (p.Asp2136Asn)
|
rs2064896365
|
|
NM_000489.6(ATRX):c.6464G>A (p.Gly2155Glu)
|
rs1057518599
|
|
NM_000489.6(ATRX):c.6484G>A (p.Val2162Ile)
|
rs1569523175
|
|
NM_000489.6(ATRX):c.6532C>T (p.Arg2178Trp)
|
rs1057517707
|
|
NM_000489.6(ATRX):c.654A>G (p.Glu218=)
|
rs782378258
|
|
NM_000489.6(ATRX):c.663-55T>A
|
rs45565042
|
|
NM_000489.6(ATRX):c.668G>A (p.Cys223Tyr)
|
rs1557142844
|
|
NM_000489.6(ATRX):c.6733A>C (p.Lys2245Gln)
|
|
|
NM_000489.6(ATRX):c.687G>C (p.Leu229Phe)
|
|
|
NM_000489.6(ATRX):c.6920C>T (p.Pro2307Leu)
|
rs2147749477
|
|
NM_000489.6(ATRX):c.6941G>T (p.Gly2314Val)
|
|
|
NM_000489.6(ATRX):c.7024G>A (p.Val2342Met)
|
|
|
NM_000489.6(ATRX):c.7072-3T>G
|
rs782686541
|
|
NM_000489.6(ATRX):c.7084A>G (p.Met2362Val)
|
rs2147738058
|
|
NM_000489.6(ATRX):c.70C>T (p.His24Tyr)
|
rs1191670776
|
|
NM_000489.6(ATRX):c.7104A>C (p.Gln2368His)
|
rs2147737907
|
|
NM_000489.6(ATRX):c.711T>C (p.Asn237=)
|
rs782710787
|
|
NM_000489.6(ATRX):c.7141G>A (p.Glu2381Lys)
|
rs1557041077
|
|
NM_000489.6(ATRX):c.7147G>C (p.Asp2383His)
|
rs1057518225
|
|
NM_000489.6(ATRX):c.7219C>T (p.Arg2407Ter)
|
rs1557034957
|
|
NM_000489.6(ATRX):c.7229T>G (p.Met2410Arg)
|
rs782388992
|
|
NM_000489.6(ATRX):c.7233C>T (p.Asn2411=)
|
rs1557034927
|
|
NM_000489.6(ATRX):c.7263GCAACA[1] (p.Gln2424_Gln2425del)
|
rs2147651246
|
|
NM_000489.6(ATRX):c.729C>G (p.Cys243Trp)
|
rs1057524153
|
|
NM_000489.6(ATRX):c.7334T>A (p.Ile2445Asn)
|
rs1057520923
|
|
NM_000489.6(ATRX):c.7366_7367del (p.Met2456fs)
|
rs797044723
|
|
NM_000489.6(ATRX):c.7368G>A (p.Met2456Ile)
|
|
|
NM_000489.6(ATRX):c.736C>T (p.Arg246Cys)
|
rs122445105
|
|
NM_000489.6(ATRX):c.7406C>T (p.Pro2469Leu)
|
|
|
NM_000489.6(ATRX):c.763A>C (p.Thr255Pro)
|
|
|
NM_000489.6(ATRX):c.764C>T (p.Thr255Ile)
|
|
|
NM_000489.6(ATRX):c.806A>G (p.His269Arg)
|
|
|
NM_000489.6(ATRX):c.832A>G (p.Thr278Ala)
|
rs2148636896
|
|
NM_000489.6(ATRX):c.884AGA[2] (p.Lys297del)
|
rs1064795918
|
|