NM_000489.6(ATRX):c.2785G>C (p.Glu929Gln)
|
rs3088074
|
0.50884
|
NM_000489.6(ATRX):c.2785= (p.Glu929=)
|
rs3088074
|
0.49116
|
NM_000489.6(ATRX):c.4659T>C (p.His1553=)
|
rs25641
|
0.05840
|
NM_000489.6(ATRX):c.228G>A (p.Ser76=)
|
rs5959371
|
0.03016
|
NM_000489.6(ATRX):c.288A>G (p.Lys96=)
|
rs45574238
|
0.01127
|
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.485-17C>G
|
rs193223073
|
0.00422
|
NM_000489.6(ATRX):c.4635C>A (p.Thr1545=)
|
rs148975763
|
0.00350
|
NM_000489.6(ATRX):c.3541G>C (p.Val1181Leu)
|
rs61758732
|
0.00137
|
NM_000489.6(ATRX):c.4239A>G (p.Glu1413=)
|
rs141974120
|
0.00129
|
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.3281G>A (p.Cys1094Tyr)
|
rs146521598
|
0.00080
|
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.1423C>G (p.His475Asp)
|
rs146863015
|
0.00050
|
NM_000489.6(ATRX):c.2923G>A (p.Asp975Asn)
|
rs200709847
|
0.00049
|
NM_000489.6(ATRX):c.4120+4A>C
|
rs200420513
|
0.00046
|
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.4957-20T>C
|
rs373789026
|
0.00029
|
NM_000489.6(ATRX):c.1303A>G (p.Ile435Val)
|
rs371580333
|
0.00027
|
NM_000489.6(ATRX):c.1825C>G (p.Pro609Ala)
|
rs186742436
|
0.00024
|
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.1648A>G (p.Ser550Gly)
|
rs201284965
|
0.00015
|
NM_000489.6(ATRX):c.2650G>A (p.Glu884Lys)
|
rs200343648
|
0.00013
|
NM_000489.6(ATRX):c.4317+13T>C
|
rs201710363
|
0.00012
|
NM_000489.6(ATRX):c.662+11T>C
|
rs375372323
|
0.00012
|
NM_000489.6(ATRX):c.7256A>G (p.Asn2419Ser)
|
rs781853125
|
0.00012
|
NM_000489.6(ATRX):c.1032C>T (p.Ser344=)
|
rs143491422
|
0.00011
|
NM_000489.6(ATRX):c.6869A>G (p.Asn2290Ser)
|
rs368498507
|
0.00011
|
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.831C>T (p.Val277=)
|
rs142561199
|
0.00010
|
NM_000489.6(ATRX):c.189+7A>G
|
rs781842591
|
0.00009
|
NM_000489.6(ATRX):c.3065G>A (p.Arg1022Gln)
|
rs781811015
|
0.00009
|
NM_000489.6(ATRX):c.3527A>T (p.Lys1176Met)
|
rs191563592
|
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.2530A>G (p.Thr844Ala)
|
rs142601264
|
0.00008
|
NM_000489.6(ATRX):c.5221A>C (p.Arg1741=)
|
rs782633224
|
0.00008
|
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.3158C>A (p.Thr1053Asn)
|
rs151273832
|
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_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.2313G>A (p.Ala771=)
|
rs373458498
|
0.00006
|
NM_000489.6(ATRX):c.2397G>C (p.Lys799Asn)
|
rs782253706
|
0.00006
|
NM_000489.6(ATRX):c.3218G>C (p.Ser1073Thr)
|
rs781825074
|
0.00006
|
NM_000489.6(ATRX):c.3504G>C (p.Lys1168Asn)
|
rs782512381
|
0.00006
|
NM_000489.6(ATRX):c.370+8G>A
|
rs782746673
|
0.00006
|
NM_000489.6(ATRX):c.3972A>G (p.Ser1324=)
|
rs782638271
|
0.00006
|
NM_000489.6(ATRX):c.4224G>A (p.Lys1408=)
|
rs781984385
|
0.00006
|
NM_000489.6(ATRX):c.485-18G>A
|
rs782461396
|
0.00006
|
NM_000489.6(ATRX):c.5001C>T (p.Tyr1667=)
|
rs202114901
|
0.00006
|
NM_000489.6(ATRX):c.118A>G (p.Met40Val)
|
rs149990714
|
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.3907A>G (p.Thr1303Ala)
|
rs781836912
|
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.4746A>G (p.Thr1582=)
|
rs782097254
|
0.00005
|
NM_000489.6(ATRX):c.5957-9C>G
|
rs375791318
|
0.00005
|
NM_000489.6(ATRX):c.6018T>A (p.Val2006=)
|
rs781802180
|
0.00005
|
NM_000489.6(ATRX):c.6110+15A>G
|
rs1309299805
|
0.00005
|
NM_000489.6(ATRX):c.6873A>G (p.Ile2291Met)
|
rs192057045
|
0.00005
|
NM_000489.6(ATRX):c.1041T>G (p.Ile347Met)
|
rs199780997
|
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.1448A>C (p.Gln483Pro)
|
rs781820428
|
0.00004
|
NM_000489.6(ATRX):c.1679C>G (p.Ser560Cys)
|
rs782446684
|
0.00004
|
NM_000489.6(ATRX):c.2114A>G (p.Asp705Gly)
|
rs781804632
|
0.00004
|
NM_000489.6(ATRX):c.2117G>C (p.Ser706Thr)
|
rs782171296
|
0.00004
|
NM_000489.6(ATRX):c.2224A>G (p.Ser742Gly)
|
rs368980616
|
0.00004
|
NM_000489.6(ATRX):c.2423G>A (p.Arg808Gln)
|
rs782181535
|
0.00004
|
NM_000489.6(ATRX):c.2573A>G (p.Lys858Arg)
|
rs782593341
|
0.00004
|
NM_000489.6(ATRX):c.2652G>C (p.Glu884Asp)
|
rs782123222
|
0.00004
|
NM_000489.6(ATRX):c.2764G>A (p.Asp922Asn)
|
rs373581602
|
0.00004
|
NM_000489.6(ATRX):c.2869G>C (p.Val957Leu)
|
rs1557138704
|
0.00004
|
NM_000489.6(ATRX):c.2922C>T (p.Ser974=)
|
rs1476227727
|
0.00004
|
NM_000489.6(ATRX):c.3091G>A (p.Gly1031Ser)
|
rs782781078
|
0.00004
|
NM_000489.6(ATRX):c.3207G>A (p.Gly1069=)
|
rs782472957
|
0.00004
|
NM_000489.6(ATRX):c.3737-6C>T
|
rs373071937
|
0.00004
|
NM_000489.6(ATRX):c.4134T>G (p.Asp1378Glu)
|
rs782302000
|
0.00004
|
NM_000489.6(ATRX):c.4214+17T>C
|
rs782525895
|
0.00004
|
NM_000489.6(ATRX):c.4557+15T>C
|
rs782672265
|
0.00004
|
NM_000489.6(ATRX):c.5272+16T>C
|
rs377679337
|
0.00004
|
NM_000489.6(ATRX):c.5448+20T>G
|
rs782183661
|
0.00004
|
NM_000489.6(ATRX):c.5567-18C>T
|
rs782747817
|
0.00004
|
NM_000489.6(ATRX):c.5956+16G>A
|
rs782016890
|
0.00004
|
NM_000489.6(ATRX):c.7254C>T (p.Tyr2418=)
|
rs782527659
|
0.00004
|
NM_000489.6(ATRX):c.2009C>T (p.Thr670Ile)
|
rs781797239
|
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.227C>T (p.Ser76Leu)
|
rs782664370
|
0.00003
|
NM_000489.6(ATRX):c.2329G>C (p.Gly777Arg)
|
rs1411348345
|
0.00003
|
NM_000489.6(ATRX):c.2581G>A (p.Asp861Asn)
|
rs782629714
|
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.3888A>G (p.Pro1296=)
|
rs139540415
|
0.00003
|
NM_000489.6(ATRX):c.4207A>G (p.Arg1403Gly)
|
rs782464685
|
0.00003
|
NM_000489.6(ATRX):c.4557+19C>T
|
rs781857296
|
0.00003
|
NM_000489.6(ATRX):c.5073A>G (p.Gln1691=)
|
rs781845474
|
0.00003
|
NM_000489.6(ATRX):c.5786+20G>A
|
rs782150691
|
0.00003
|
NM_000489.6(ATRX):c.595-17C>G
|
rs782473887
|
0.00003
|
NM_000489.6(ATRX):c.6024T>C (p.Asp2008=)
|
rs782159753
|
0.00003
|
NM_000489.6(ATRX):c.7011A>G (p.Glu2337=)
|
rs782078102
|
0.00003
|
NM_000489.6(ATRX):c.7113G>A (p.Ala2371=)
|
rs782703242
|
0.00003
|
NM_000489.6(ATRX):c.114T>G (p.Leu38=)
|
rs201353033
|
0.00002
|
NM_000489.6(ATRX):c.1257G>A (p.Ala419=)
|
rs185550133
|
0.00002
|
NM_000489.6(ATRX):c.1441G>C (p.Glu481Gln)
|
rs782128777
|
0.00002
|
NM_000489.6(ATRX):c.1446A>C (p.Glu482Asp)
|
rs886044778
|
0.00002
|
NM_000489.6(ATRX):c.1666G>A (p.Val556Met)
|
rs782001042
|
0.00002
|
NM_000489.6(ATRX):c.2087G>C (p.Arg696Thr)
|
rs781967738
|
0.00002
|
NM_000489.6(ATRX):c.2174T>C (p.Val725Ala)
|
rs960922907
|
0.00002
|
NM_000489.6(ATRX):c.2524C>T (p.Pro842Ser)
|
rs782196312
|
0.00002
|
NM_000489.6(ATRX):c.2728A>G (p.Lys910Glu)
|
rs782016225
|
0.00002
|
NM_000489.6(ATRX):c.3459A>G (p.Ser1153=)
|
rs782427169
|
0.00002
|
NM_000489.6(ATRX):c.3646A>G (p.Ile1216Val)
|
rs782062542
|
0.00002
|
NM_000489.6(ATRX):c.3848A>G (p.Asn1283Ser)
|
rs201588422
|
0.00002
|
NM_000489.6(ATRX):c.3953A>G (p.Asn1318Ser)
|
rs782293614
|
0.00002
|
NM_000489.6(ATRX):c.3962A>G (p.Asn1321Ser)
|
rs1440336962
|
0.00002
|
NM_000489.6(ATRX):c.4096G>A (p.Val1366Ile)
|
rs1280555560
|
0.00002
|
NM_000489.6(ATRX):c.4699+9C>T
|
rs782140505
|
0.00002
|
NM_000489.6(ATRX):c.4866G>A (p.Ala1622=)
|
rs145036475
|
0.00002
|
NM_000489.6(ATRX):c.5184A>G (p.Ala1728=)
|
rs782211965
|
0.00002
|
NM_000489.6(ATRX):c.5493C>T (p.His1831=)
|
rs782508028
|
0.00002
|
NM_000489.6(ATRX):c.6327-18C>T
|
rs372246179
|
0.00002
|
NM_000489.6(ATRX):c.6924T>C (p.Tyr2308=)
|
rs139457986
|
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.7200+15G>A
|
rs372742045
|
0.00002
|
NM_000489.6(ATRX):c.7229T>C (p.Met2410Thr)
|
rs782388992
|
0.00002
|
NM_000489.6(ATRX):c.1042G>T (p.Val348Leu)
|
rs1557142408
|
0.00001
|
NM_000489.6(ATRX):c.1439C>T (p.Thr480Ile)
|
rs782751824
|
0.00001
|
NM_000489.6(ATRX):c.177C>T (p.Asn59=)
|
rs782250182
|
0.00001
|
NM_000489.6(ATRX):c.2480G>A (p.Ser827Asn)
|
rs897147546
|
0.00001
|
NM_000489.6(ATRX):c.2494G>A (p.Gly832Ser)
|
rs1557139497
|
0.00001
|
NM_000489.6(ATRX):c.2597A>C (p.Lys866Thr)
|
rs782057275
|
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.2875G>T (p.Asp959Tyr)
|
rs1057523431
|
0.00001
|
NM_000489.6(ATRX):c.3103A>G (p.Ile1035Val)
|
rs781916347
|
0.00001
|
NM_000489.6(ATRX):c.3306G>A (p.Arg1102=)
|
rs782279780
|
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.3687G>A (p.Val1229=)
|
rs1051682
|
0.00001
|
NM_000489.6(ATRX):c.4031A>G (p.Lys1344Arg)
|
rs782556767
|
0.00001
|
NM_000489.6(ATRX):c.4647A>G (p.Leu1549=)
|
rs782303976
|
0.00001
|
NM_000489.6(ATRX):c.4767A>T (p.Gly1589=)
|
rs782707742
|
0.00001
|
NM_000489.6(ATRX):c.4858A>C (p.Ser1620Arg)
|
rs782115900
|
0.00001
|
NM_000489.6(ATRX):c.4905G>T (p.Met1635Ile)
|
rs1045875195
|
0.00001
|
NM_000489.6(ATRX):c.5273-19A>G
|
rs1278007263
|
0.00001
|
NM_000489.6(ATRX):c.5566+14C>T
|
rs1003519094
|
0.00001
|
NM_000489.6(ATRX):c.5786A>G (p.Lys1929Arg)
|
rs1569528833
|
0.00001
|
NM_000489.6(ATRX):c.6132C>T (p.Leu2044=)
|
rs1557079262
|
0.00001
|
NM_000489.6(ATRX):c.672G>A (p.Ala224=)
|
rs782223625
|
0.00001
|
NM_000489.6(ATRX):c.7072-3T>C
|
rs782686541
|
0.00001
|
NM_000489.6(ATRX):c.7401G>A (p.Met2467Ile)
|
rs782416494
|
0.00001
|
NM_000489.6(ATRX):c.917A>G (p.Asn306Ser)
|
rs782367711
|
0.00001
|
NM_000489.6(ATRX):c.1017A>G (p.Val339=)
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|
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NM_000489.6(ATRX):c.105T>A (p.Pro35=)
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NM_000489.6(ATRX):c.1078A>G (p.Ile360Val)
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NM_000489.6(ATRX):c.1101C>T (p.Asn367=)
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NM_000489.6(ATRX):c.1164A>G (p.Lys388=)
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NM_000489.6(ATRX):c.1212G>C (p.Lys404Asn)
|
rs2071413817
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NM_000489.6(ATRX):c.1230A>G (p.Glu410=)
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NM_000489.6(ATRX):c.1297A>G (p.Lys433Glu)
|
rs898727479
|
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NM_000489.6(ATRX):c.1311T>G (p.Ala437=)
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NM_000489.6(ATRX):c.1384G>C (p.Ala462Pro)
|
rs201503118
|
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NM_000489.6(ATRX):c.1430A>G (p.Asn477Ser)
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|
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NM_000489.6(ATRX):c.1566C>G (p.Ser522=)
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NM_000489.6(ATRX):c.1627G>C (p.Asp543His)
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NM_000489.6(ATRX):c.180C>T (p.Ser60=)
|
rs2072319089
|
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NM_000489.6(ATRX):c.1856G>A (p.Gly619Asp)
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NM_000489.6(ATRX):c.20+12C>T
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NM_000489.6(ATRX):c.2023T>G (p.Ser675Ala)
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|
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NM_000489.6(ATRX):c.2268A>G (p.Glu756=)
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|
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NM_000489.6(ATRX):c.2429C>A (p.Thr810Asn)
|
rs2148598084
|
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NM_000489.6(ATRX):c.2493T>G (p.Ile831Met)
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NM_000489.6(ATRX):c.2580G>T (p.Met860Ile)
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|
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NM_000489.6(ATRX):c.2595C>G (p.His865Gln)
|
rs61752455
|
|
NM_000489.6(ATRX):c.2664C>G (p.Phe888Leu)
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|
|
NM_000489.6(ATRX):c.2698A>G (p.Thr900Ala)
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NM_000489.6(ATRX):c.2802G>A (p.Leu934=)
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|
|
NM_000489.6(ATRX):c.2970A>G (p.Glu990=)
|
rs782253066
|
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NM_000489.6(ATRX):c.3040G>A (p.Asp1014Asn)
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|
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NM_000489.6(ATRX):c.3071A>C (p.Glu1024Ala)
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NM_000489.6(ATRX):c.3105T>A (p.Ile1035=)
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NM_000489.6(ATRX):c.3124G>A (p.Gly1042Arg)
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NM_000489.6(ATRX):c.3265A>G (p.Arg1089Gly)
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NM_000489.6(ATRX):c.3408A>G (p.Glu1136=)
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NM_000489.6(ATRX):c.351T>C (p.Thr117=)
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NM_000489.6(ATRX):c.3612T>A (p.Ser1204=)
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NM_000489.6(ATRX):c.3624AGA[1] (p.Glu1209del)
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|
NM_000489.6(ATRX):c.3682C>T (p.Pro1228Ser)
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|
|
NM_000489.6(ATRX):c.3737-9dup
|
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|
NM_000489.6(ATRX):c.3810-20del
|
|
|
NM_000489.6(ATRX):c.3810-20dup
|
|
|
NM_000489.6(ATRX):c.3983C>A (p.Ser1328Tyr)
|
rs930261155
|
|
NM_000489.6(ATRX):c.4004G>T (p.Arg1335Ile)
|
rs1569536694
|
|
NM_000489.6(ATRX):c.4027C>T (p.His1343Tyr)
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|
|
NM_000489.6(ATRX):c.4076A>G (p.Lys1359Arg)
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|
NM_000489.6(ATRX):c.4097T>A (p.Val1366Asp)
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|
NM_000489.6(ATRX):c.4105A>G (p.Arg1369Gly)
|
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|
NM_000489.6(ATRX):c.4188C>T (p.Ser1396=)
|
|
|
NM_000489.6(ATRX):c.4214+19A>T
|
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|
NM_000489.6(ATRX):c.4293A>G (p.Gln1431=)
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|
NM_000489.6(ATRX):c.4329G>T (p.Glu1443Asp)
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|
|
NM_000489.6(ATRX):c.4372G>A (p.Glu1458Lys)
|
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|
NM_000489.6(ATRX):c.4558-8del
|
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|
NM_000489.6(ATRX):c.4956+12del
|
|
|
NM_000489.6(ATRX):c.5379C>T (p.Thr1793=)
|
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|
NM_000489.6(ATRX):c.5472A>C (p.Thr1824=)
|
|
|
NM_000489.6(ATRX):c.5566+5A>C
|
rs782212670
|
|
NM_000489.6(ATRX):c.5698-19G>A
|
|
|
NM_000489.6(ATRX):c.5698-7del
|
rs781820607
|
|
NM_000489.6(ATRX):c.5698-7dup
|
rs781820607
|
|
NM_000489.6(ATRX):c.5786+19C>T
|
|
|
NM_000489.6(ATRX):c.5787-24GTTT[4]
|
rs782072699
|
|
NM_000489.6(ATRX):c.5787-24GTTT[6]
|
rs782072699
|
|
NM_000489.6(ATRX):c.5957-15A>G
|
|
|
NM_000489.6(ATRX):c.5968TCT[2] (p.Ser1992del)
|
rs782391479
|
|
NM_000489.6(ATRX):c.6026C>G (p.Ala2009Gly)
|
rs1557082359
|
|
NM_000489.6(ATRX):c.6110+12A>G
|
|
|
NM_000489.6(ATRX):c.6111-9dup
|
rs1557079294
|
|
NM_000489.6(ATRX):c.6504+17C>A
|
|
|
NM_000489.6(ATRX):c.654A>G (p.Glu218=)
|
rs782378258
|
|
NM_000489.6(ATRX):c.6555G>T (p.Leu2185=)
|
rs781823496
|
|
NM_000489.6(ATRX):c.6659C>T (p.Ser2220Leu)
|
|
|
NM_000489.6(ATRX):c.6850-9dup
|
|
|
NM_000489.6(ATRX):c.6896C>T (p.Pro2299Leu)
|
|
|
NM_000489.6(ATRX):c.7017A>G (p.Thr2339=)
|
|
|
NM_000489.6(ATRX):c.7071+16A>G
|
|
|
NM_000489.6(ATRX):c.711T>C (p.Asn237=)
|
rs782710787
|
|
NM_000489.6(ATRX):c.7335C>A (p.Ile2445=)
|
|
|
NM_000489.6(ATRX):c.7336A>C (p.Met2446Leu)
|
|
|
NM_000489.6(ATRX):c.7350C>G (p.Asn2450Lys)
|
rs2147648778
|
|
NM_000489.6(ATRX):c.7432C>T (p.Pro2478Ser)
|
rs199543136
|
|
NM_000489.6(ATRX):c.7436T>C (p.Met2479Thr)
|
|
|