NM_000489.6(ATRX):c.228G>A (p.Ser76=)
|
rs5959371
|
0.03016
|
NM_000489.6(ATRX):c.5579A>G (p.Asn1860Ser)
|
rs45439799
|
0.00663
|
NM_000489.6(ATRX):c.3541G>C (p.Val1181Leu)
|
rs61758732
|
0.00137
|
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.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.3987A>G (p.Glu1329=)
|
rs147160114
|
0.00021
|
NM_000489.6(ATRX):c.4395T>C (p.Asp1465=)
|
rs143785452
|
0.00021
|
NM_000489.6(ATRX):c.2650G>A (p.Glu884Lys)
|
rs200343648
|
0.00013
|
NM_000489.6(ATRX):c.6036G>A (p.Glu2012=)
|
rs376679217
|
0.00013
|
NM_000489.6(ATRX):c.546A>G (p.Gln182=)
|
rs375794120
|
0.00012
|
NM_000489.6(ATRX):c.7256A>G (p.Asn2419Ser)
|
rs781853125
|
0.00012
|
NM_000489.6(ATRX):c.2968G>A (p.Glu990Lys)
|
rs376883807
|
0.00011
|
NM_000489.6(ATRX):c.820T>C (p.Leu274=)
|
rs146012355
|
0.00011
|
NM_000489.6(ATRX):c.1256C>T (p.Ala419Val)
|
rs374958282
|
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.3065G>A (p.Arg1022Gln)
|
rs781811015
|
0.00009
|
NM_000489.6(ATRX):c.3559A>G (p.Asn1187Asp)
|
rs782146598
|
0.00009
|
NM_000489.6(ATRX):c.570T>G (p.Pro190=)
|
rs188831993
|
0.00009
|
NM_000489.6(ATRX):c.1798A>G (p.Ile600Val)
|
rs375129029
|
0.00008
|
NM_000489.6(ATRX):c.1868A>G (p.Lys623Arg)
|
rs145678415
|
0.00008
|
NM_000489.6(ATRX):c.4810-3T>C
|
rs370596323
|
0.00008
|
NM_000489.6(ATRX):c.7435A>G (p.Met2479Val)
|
rs200478641
|
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.2118T>A (p.Ser706Arg)
|
rs782598442
|
0.00007
|
NM_000489.6(ATRX):c.253A>G (p.Ile85Val)
|
rs150801485
|
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_000489.6(ATRX):c.1033G>A (p.Ala345Thr)
|
rs149249195
|
0.00006
|
NM_000489.6(ATRX):c.2105A>G (p.Asn702Ser)
|
rs782409603
|
0.00006
|
NM_000489.6(ATRX):c.2313G>A (p.Ala771=)
|
rs373458498
|
0.00006
|
NM_000489.6(ATRX):c.3513A>T (p.Arg1171Ser)
|
rs868995055
|
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.1386T>C (p.Ala462=)
|
rs367596462
|
0.00005
|
NM_000489.6(ATRX):c.1478A>G (p.His493Arg)
|
rs947189709
|
0.00005
|
NM_000489.6(ATRX):c.1617G>A (p.Gln539=)
|
rs151072312
|
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.2859A>G (p.Thr953=)
|
rs782180867
|
0.00005
|
NM_000489.6(ATRX):c.321G>A (p.Ala107=)
|
rs992631268
|
0.00005
|
NM_000489.6(ATRX):c.3505A>C (p.Lys1169Gln)
|
rs1225665090
|
0.00005
|
NM_000489.6(ATRX):c.3622A>G (p.Ile1208Val)
|
rs782257568
|
0.00005
|
NM_000489.6(ATRX):c.3978A>G (p.Ser1326=)
|
rs369658928
|
0.00005
|
NM_000489.6(ATRX):c.5957-9C>G
|
rs375791318
|
0.00005
|
NM_000489.6(ATRX):c.7201-4A>G
|
rs782317502
|
0.00005
|
NM_000489.6(ATRX):c.7432C>G (p.Pro2478Ala)
|
rs199543136
|
0.00005
|
NM_000489.6(ATRX):c.1047C>G (p.Pro349=)
|
rs200288042
|
0.00004
|
NM_000489.6(ATRX):c.1625T>C (p.Val542Ala)
|
rs782158232
|
0.00004
|
NM_000489.6(ATRX):c.2484G>C (p.Met828Ile)
|
rs782705007
|
0.00004
|
NM_000489.6(ATRX):c.2527A>T (p.Asn843Tyr)
|
rs782018257
|
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.2940T>C (p.Asp980=)
|
rs978376242
|
0.00004
|
NM_000489.6(ATRX):c.3042T>C (p.Asp1014=)
|
rs140476563
|
0.00004
|
NM_000489.6(ATRX):c.3801T>C (p.Pro1267=)
|
rs149717199
|
0.00004
|
NM_000489.6(ATRX):c.4215-20_4215-18del
|
rs1188376416
|
0.00004
|
NM_000489.6(ATRX):c.4542A>G (p.Arg1514=)
|
rs372133964
|
0.00004
|
NM_000489.6(ATRX):c.501G>A (p.Gly167=)
|
rs139919697
|
0.00004
|
NM_000489.6(ATRX):c.6505-8T>C
|
rs782548527
|
0.00004
|
NM_000489.6(ATRX):c.6640T>G (p.Leu2214Val)
|
rs782396522
|
0.00004
|
NM_000489.6(ATRX):c.7439G>A (p.Arg2480Lys)
|
rs369871569
|
0.00004
|
NM_000489.6(ATRX):c.913A>G (p.Ser305Gly)
|
rs782778928
|
0.00004
|
NM_000489.6(ATRX):c.1350T>C (p.Cys450=)
|
rs782077373
|
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.2623T>C (p.Ser875Pro)
|
rs370074271
|
0.00003
|
NM_000489.6(ATRX):c.2753C>T (p.Thr918Ile)
|
rs782394785
|
0.00003
|
NM_000489.6(ATRX):c.2763C>T (p.Val921=)
|
rs782004945
|
0.00003
|
NM_000489.6(ATRX):c.3067G>C (p.Glu1023Gln)
|
rs367700285
|
0.00003
|
NM_000489.6(ATRX):c.3404G>C (p.Arg1135Thr)
|
rs781852987
|
0.00003
|
NM_000489.6(ATRX):c.3432A>C (p.Arg1144Ser)
|
rs781837522
|
0.00003
|
NM_000489.6(ATRX):c.3537C>T (p.Val1179=)
|
rs782800250
|
0.00003
|
NM_000489.6(ATRX):c.35A>G (p.Asn12Ser)
|
rs782399326
|
0.00003
|
NM_000489.6(ATRX):c.3759A>G (p.Ser1253=)
|
rs1165816018
|
0.00003
|
NM_000489.6(ATRX):c.3943+8C>T
|
rs1557125060
|
0.00003
|
NM_000489.6(ATRX):c.4210A>G (p.Thr1404Ala)
|
rs781835568
|
0.00003
|
NM_000489.6(ATRX):c.4215-6C>T
|
rs375091964
|
0.00003
|
NM_000489.6(ATRX):c.4392A>G (p.Glu1464=)
|
rs782637572
|
0.00003
|
NM_000489.6(ATRX):c.5073A>G (p.Gln1691=)
|
rs781845474
|
0.00003
|
NM_000489.6(ATRX):c.5160A>G (p.Glu1720=)
|
rs782298274
|
0.00003
|
NM_000489.6(ATRX):c.5538C>T (p.Leu1846=)
|
rs782737091
|
0.00003
|
NM_000489.6(ATRX):c.5697+13A>C
|
rs782387510
|
0.00003
|
NM_000489.6(ATRX):c.5809G>A (p.Gly1937Arg)
|
rs782222942
|
0.00003
|
NM_000489.6(ATRX):c.6273T>C (p.Thr2091=)
|
rs1557069188
|
0.00003
|
NM_000489.6(ATRX):c.6327-16A>G
|
rs1457254023
|
0.00003
|
NM_000489.6(ATRX):c.6630T>C (p.Phe2210=)
|
rs147169853
|
0.00003
|
NM_000489.6(ATRX):c.6741C>T (p.His2247=)
|
rs1336936187
|
0.00003
|
NM_000489.6(ATRX):c.738C>T (p.Arg246=)
|
rs781856746
|
0.00003
|
NM_000489.6(ATRX):c.96A>G (p.Thr32=)
|
rs199948087
|
0.00003
|
NM_000489.6(ATRX):c.1002C>G (p.Ser334=)
|
rs1343658181
|
0.00002
|
NM_000489.6(ATRX):c.1071A>G (p.Lys357=)
|
rs1557142379
|
0.00002
|
NM_000489.6(ATRX):c.1130C>T (p.Ala377Val)
|
rs781955237
|
0.00002
|
NM_000489.6(ATRX):c.1192G>C (p.Val398Leu)
|
rs1436524317
|
0.00002
|
NM_000489.6(ATRX):c.1257G>A (p.Ala419=)
|
rs185550133
|
0.00002
|
NM_000489.6(ATRX):c.1262A>G (p.Asp421Gly)
|
rs782817063
|
0.00002
|
NM_000489.6(ATRX):c.1345C>G (p.Pro449Ala)
|
rs1557141862
|
0.00002
|
NM_000489.6(ATRX):c.1411A>G (p.Ser471Gly)
|
rs781841113
|
0.00002
|
NM_000489.6(ATRX):c.1437A>G (p.Pro479=)
|
rs1557141681
|
0.00002
|
NM_000489.6(ATRX):c.1468G>A (p.Gly490Ser)
|
rs1378005125
|
0.00002
|
NM_000489.6(ATRX):c.1529C>G (p.Ser510Cys)
|
rs782395967
|
0.00002
|
NM_000489.6(ATRX):c.1561C>G (p.Pro521Ala)
|
rs782314240
|
0.00002
|
NM_000489.6(ATRX):c.1758A>G (p.Leu586=)
|
rs781987630
|
0.00002
|
NM_000489.6(ATRX):c.2010T>C (p.Thr670=)
|
rs1398783862
|
0.00002
|
NM_000489.6(ATRX):c.2073A>G (p.Leu691=)
|
rs782395054
|
0.00002
|
NM_000489.6(ATRX):c.21-4A>G
|
rs1197209284
|
0.00002
|
NM_000489.6(ATRX):c.2122A>G (p.Ile708Val)
|
rs375900706
|
0.00002
|
NM_000489.6(ATRX):c.2212C>G (p.Leu738Val)
|
rs782470087
|
0.00002
|
NM_000489.6(ATRX):c.222A>G (p.Ser74=)
|
rs782427200
|
0.00002
|
NM_000489.6(ATRX):c.2255C>T (p.Thr752Ile)
|
rs1557140024
|
0.00002
|
NM_000489.6(ATRX):c.2273A>G (p.His758Arg)
|
rs782601904
|
0.00002
|
NM_000489.6(ATRX):c.2385C>G (p.Gly795=)
|
rs1039484052
|
0.00002
|
NM_000489.6(ATRX):c.243-4A>T
|
rs782131289
|
0.00002
|
NM_000489.6(ATRX):c.2658G>C (p.Glu886Asp)
|
rs141180098
|
0.00002
|
NM_000489.6(ATRX):c.2742A>G (p.Ala914=)
|
rs1488470934
|
0.00002
|
NM_000489.6(ATRX):c.2815G>C (p.Val939Leu)
|
rs149195735
|
0.00002
|
NM_000489.6(ATRX):c.2898G>T (p.Glu966Asp)
|
rs138256318
|
0.00002
|
NM_000489.6(ATRX):c.2901A>G (p.Lys967=)
|
rs782680197
|
0.00002
|
NM_000489.6(ATRX):c.2907A>C (p.Leu969=)
|
rs782330959
|
0.00002
|
NM_000489.6(ATRX):c.291T>G (p.Pro97=)
|
rs1448338171
|
0.00002
|
NM_000489.6(ATRX):c.2953A>G (p.Ser985Gly)
|
rs782424160
|
0.00002
|
NM_000489.6(ATRX):c.3133A>G (p.Lys1045Glu)
|
rs1332447363
|
0.00002
|
NM_000489.6(ATRX):c.3228T>A (p.Ser1076=)
|
rs1205167045
|
0.00002
|
NM_000489.6(ATRX):c.3285G>T (p.Lys1095Asn)
|
rs1308342676
|
0.00002
|
NM_000489.6(ATRX):c.3315A>G (p.Gln1105=)
|
rs782378663
|
0.00002
|
NM_000489.6(ATRX):c.3387G>A (p.Leu1129=)
|
rs3761507
|
0.00002
|
NM_000489.6(ATRX):c.3624A>G (p.Ile1208Met)
|
rs370693515
|
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.3786T>C (p.Asp1262=)
|
rs782113542
|
0.00002
|
NM_000489.6(ATRX):c.39A>C (p.Thr13=)
|
rs1244422748
|
0.00002
|
NM_000489.6(ATRX):c.4329G>A (p.Glu1443=)
|
rs782044671
|
0.00002
|
NM_000489.6(ATRX):c.4338G>A (p.Glu1446=)
|
rs1211312426
|
0.00002
|
NM_000489.6(ATRX):c.484+7A>G
|
rs377292662
|
0.00002
|
NM_000489.6(ATRX):c.485-19A>G
|
rs1357515491
|
0.00002
|
NM_000489.6(ATRX):c.5134+8A>G
|
rs781898638
|
0.00002
|
NM_000489.6(ATRX):c.5154T>C (p.Cys1718=)
|
rs782405658
|
0.00002
|
NM_000489.6(ATRX):c.5449-6T>C
|
rs782446336
|
0.00002
|
NM_000489.6(ATRX):c.5484T>C (p.Pro1828=)
|
rs782803109
|
0.00002
|
NM_000489.6(ATRX):c.5786+7C>T
|
rs375234450
|
0.00002
|
NM_000489.6(ATRX):c.6102G>T (p.Gly2034=)
|
rs1374547675
|
0.00002
|
NM_000489.6(ATRX):c.6144C>T (p.Asp2048=)
|
rs1252304745
|
0.00002
|
NM_000489.6(ATRX):c.6207T>C (p.Leu2069=)
|
rs369953134
|
0.00002
|
NM_000489.6(ATRX):c.6252C>T (p.Tyr2084=)
|
rs1557069206
|
0.00002
|
NM_000489.6(ATRX):c.6330A>G (p.Gly2110=)
|
rs368051003
|
0.00002
|
NM_000489.6(ATRX):c.6887A>G (p.Asn2296Ser)
|
rs782274478
|
0.00002
|
NM_000489.6(ATRX):c.7044A>G (p.Gln2348=)
|
rs375935735
|
0.00002
|
NM_000489.6(ATRX):c.7183T>C (p.Leu2395=)
|
rs782490070
|
0.00002
|
NM_000489.6(ATRX):c.926A>G (p.Tyr309Cys)
|
rs782058125
|
0.00002
|
NM_000489.6(ATRX):c.954G>A (p.Lys318=)
|
rs782406455
|
0.00002
|
NM_000489.6(ATRX):c.1001C>T (p.Ser334Phe)
|
rs1557142507
|
0.00001
|
NM_000489.6(ATRX):c.1004G>C (p.Cys335Ser)
|
rs782395663
|
0.00001
|
NM_000489.6(ATRX):c.1023C>T (p.Tyr341=)
|
rs1557142453
|
0.00001
|
NM_000489.6(ATRX):c.1110T>C (p.Tyr370=)
|
rs371831155
|
0.00001
|
NM_000489.6(ATRX):c.1150A>C (p.Ser384Arg)
|
rs782196033
|
0.00001
|
NM_000489.6(ATRX):c.1182T>C (p.Ala394=)
|
rs1557142198
|
0.00001
|
NM_000489.6(ATRX):c.1206T>A (p.Ile402=)
|
rs782635950
|
0.00001
|
NM_000489.6(ATRX):c.1244C>A (p.Ser415Tyr)
|
rs1287938208
|
0.00001
|
NM_000489.6(ATRX):c.1246G>A (p.Glu416Lys)
|
rs782253905
|
0.00001
|
NM_000489.6(ATRX):c.1253G>A (p.Arg418Gln)
|
rs1557142053
|
0.00001
|
NM_000489.6(ATRX):c.1261G>A (p.Asp421Asn)
|
rs1557142034
|
0.00001
|
NM_000489.6(ATRX):c.1272C>G (p.Asn424Lys)
|
rs1557141981
|
0.00001
|
NM_000489.6(ATRX):c.1273A>C (p.Lys425Gln)
|
rs782508808
|
0.00001
|
NM_000489.6(ATRX):c.1304T>C (p.Ile435Thr)
|
rs782723442
|
0.00001
|
NM_000489.6(ATRX):c.133+10A>G
|
rs782623596
|
0.00001
|
NM_000489.6(ATRX):c.1331G>A (p.Arg444Gln)
|
rs781932965
|
0.00001
|
NM_000489.6(ATRX):c.1332A>G (p.Arg444=)
|
rs782807071
|
0.00001
|
NM_000489.6(ATRX):c.1344A>G (p.Lys448=)
|
rs1358073611
|
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.1380A>G (p.Ser460=)
|
rs1242270081
|
0.00001
|
NM_000489.6(ATRX):c.1390C>G (p.Leu464Val)
|
rs202011714
|
0.00001
|
NM_000489.6(ATRX):c.1412G>T (p.Ser471Ile)
|
rs1557141731
|
0.00001
|
NM_000489.6(ATRX):c.1414G>A (p.Glu472Lys)
|
rs782593283
|
0.00001
|
NM_000489.6(ATRX):c.1449A>G (p.Gln483=)
|
rs1472962089
|
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.1551T>C (p.Ile517=)
|
rs782219426
|
0.00001
|
NM_000489.6(ATRX):c.1615C>G (p.Gln539Glu)
|
rs782329833
|
0.00001
|
NM_000489.6(ATRX):c.1631A>G (p.His544Arg)
|
rs1464531189
|
0.00001
|
NM_000489.6(ATRX):c.1646G>C (p.Ser549Thr)
|
rs1557141087
|
0.00001
|
NM_000489.6(ATRX):c.1649G>T (p.Ser550Ile)
|
rs782422536
|
0.00001
|
NM_000489.6(ATRX):c.1659A>G (p.Glu553=)
|
rs782238205
|
0.00001
|
NM_000489.6(ATRX):c.1669G>C (p.Glu557Gln)
|
rs782332325
|
0.00001
|
NM_000489.6(ATRX):c.167T>C (p.Met56Thr)
|
rs782553856
|
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.1717G>T (p.Gly573Cys)
|
rs782746892
|
0.00001
|
NM_000489.6(ATRX):c.1755A>G (p.Glu585=)
|
rs2071369876
|
0.00001
|
NM_000489.6(ATRX):c.1814G>A (p.Cys605Tyr)
|
rs1205903424
|
0.00001
|
NM_000489.6(ATRX):c.189+11T>C
|
rs905685078
|
0.00001
|
NM_000489.6(ATRX):c.1894G>A (p.Glu632Lys)
|
rs1557140572
|
0.00001
|
NM_000489.6(ATRX):c.190-11C>T
|
rs1279814829
|
0.00001
|
NM_000489.6(ATRX):c.190-6A>G
|
rs782620881
|
0.00001
|
NM_000489.6(ATRX):c.1952C>G (p.Ser651Cys)
|
rs1557140502
|
0.00001
|
NM_000489.6(ATRX):c.1960C>G (p.Arg654Gly)
|
rs1557140492
|
0.00001
|
NM_000489.6(ATRX):c.1983T>C (p.Thr661=)
|
rs1557140457
|
0.00001
|
NM_000489.6(ATRX):c.1995G>A (p.Arg665=)
|
rs782517014
|
0.00001
|
NM_000489.6(ATRX):c.2014C>G (p.Pro672Ala)
|
rs1385116529
|
0.00001
|
NM_000489.6(ATRX):c.2064A>G (p.Lys688=)
|
rs781991929
|
0.00001
|
NM_000489.6(ATRX):c.2083G>C (p.Val695Leu)
|
rs571313578
|
0.00001
|
NM_000489.6(ATRX):c.2127T>C (p.Asp709=)
|
rs2071345590
|
0.00001
|
NM_000489.6(ATRX):c.2145A>G (p.Lys715=)
|
rs782141994
|
0.00001
|
NM_000489.6(ATRX):c.2176G>C (p.Asp726His)
|
rs782384208
|
0.00001
|
NM_000489.6(ATRX):c.2209A>G (p.Ile737Val)
|
rs782110483
|
0.00001
|
NM_000489.6(ATRX):c.2343A>G (p.Arg781=)
|
rs782076062
|
0.00001
|
NM_000489.6(ATRX):c.2348G>C (p.Ser783Thr)
|
rs782530243
|
0.00001
|
NM_000489.6(ATRX):c.2383G>C (p.Gly795Arg)
|
rs1557139793
|
0.00001
|
NM_000489.6(ATRX):c.242+7T>G
|
rs1557150666
|
0.00001
|
NM_000489.6(ATRX):c.2422C>A (p.Arg808=)
|
rs891068548
|
0.00001
|
NM_000489.6(ATRX):c.2433G>C (p.Gln811His)
|
rs1557139658
|
0.00001
|
NM_000489.6(ATRX):c.2454C>T (p.Asp818=)
|
rs1557139634
|
0.00001
|
NM_000489.6(ATRX):c.2457A>G (p.Ser819=)
|
rs1051441832
|
0.00001
|
NM_000489.6(ATRX):c.2460A>G (p.Glu820=)
|
rs1557139617
|
0.00001
|
NM_000489.6(ATRX):c.2472G>C (p.Glu824Asp)
|
rs1557139572
|
0.00001
|
NM_000489.6(ATRX):c.2499T>C (p.Ala833=)
|
rs781983620
|
0.00001
|
NM_000489.6(ATRX):c.2521A>G (p.Ile841Val)
|
rs781978542
|
0.00001
|
NM_000489.6(ATRX):c.2522T>C (p.Ile841Thr)
|
rs797045405
|
0.00001
|
NM_000489.6(ATRX):c.254T>A (p.Ile85Asn)
|
rs1402319857
|
0.00001
|
NM_000489.6(ATRX):c.2592G>A (p.Gly864=)
|
rs782526944
|
0.00001
|
NM_000489.6(ATRX):c.2609C>T (p.Thr870Ile)
|
rs143558145
|
0.00001
|
NM_000489.6(ATRX):c.2615A>T (p.Gln872Leu)
|
rs782162927
|
0.00001
|
NM_000489.6(ATRX):c.2617G>C (p.Glu873Gln)
|
rs967071645
|
0.00001
|
NM_000489.6(ATRX):c.2619A>G (p.Glu873=)
|
rs183498404
|
0.00001
|
NM_000489.6(ATRX):c.2648A>G (p.Gln883Arg)
|
rs587778086
|
0.00001
|
NM_000489.6(ATRX):c.2661T>C (p.Thr887=)
|
rs781845031
|
0.00001
|
NM_000489.6(ATRX):c.2692G>C (p.Asp898His)
|
rs781903868
|
0.00001
|
NM_000489.6(ATRX):c.2714G>C (p.Arg905Thr)
|
rs1557139012
|
0.00001
|
NM_000489.6(ATRX):c.2744G>C (p.Ser915Thr)
|
rs782427910
|
0.00001
|
NM_000489.6(ATRX):c.2772T>C (p.Leu924=)
|
rs782238045
|
0.00001
|
NM_000489.6(ATRX):c.2775T>C (p.Ser925=)
|
rs139376742
|
0.00001
|
NM_000489.6(ATRX):c.2778G>A (p.Gly926=)
|
rs1419707341
|
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.2793T>C (p.Phe931=)
|
rs1557138845
|
0.00001
|
NM_000489.6(ATRX):c.2820T>C (p.Ala940=)
|
rs782261448
|
0.00001
|
NM_000489.6(ATRX):c.2826T>A (p.Thr942=)
|
rs782329061
|
0.00001
|
NM_000489.6(ATRX):c.2989G>A (p.Asp997Asn)
|
rs1557138410
|
0.00001
|
NM_000489.6(ATRX):c.3023A>G (p.Gln1008Arg)
|
rs1557138354
|
0.00001
|
NM_000489.6(ATRX):c.3030A>G (p.Glu1010=)
|
rs781816426
|
0.00001
|
NM_000489.6(ATRX):c.3092G>T (p.Gly1031Val)
|
rs782088552
|
0.00001
|
NM_000489.6(ATRX):c.3101A>G (p.Gln1034Arg)
|
rs1453048739
|
0.00001
|
NM_000489.6(ATRX):c.3153T>G (p.Asp1051Glu)
|
rs1453641319
|
0.00001
|
NM_000489.6(ATRX):c.3163A>G (p.Lys1055Glu)
|
rs782258081
|
0.00001
|
NM_000489.6(ATRX):c.3183T>C (p.Ser1061=)
|
rs782580932
|
0.00001
|
NM_000489.6(ATRX):c.3192T>G (p.Ala1064=)
|
rs782553263
|
0.00001
|
NM_000489.6(ATRX):c.3206G>A (p.Gly1069Glu)
|
rs1557137990
|
0.00001
|
NM_000489.6(ATRX):c.3210A>G (p.Lys1070=)
|
rs782634074
|
0.00001
|
NM_000489.6(ATRX):c.3211G>A (p.Gly1071Arg)
|
rs143621153
|
0.00001
|
NM_000489.6(ATRX):c.324T>C (p.Ser108=)
|
rs2072199898
|
0.00001
|
NM_000489.6(ATRX):c.3255A>C (p.Gly1085=)
|
rs782801097
|
0.00001
|
NM_000489.6(ATRX):c.3270G>C (p.Glu1090Asp)
|
rs781992894
|
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.3373T>C (p.Ser1125Pro)
|
rs1557137528
|
0.00001
|
NM_000489.6(ATRX):c.3437C>A (p.Thr1146Asn)
|
rs368828845
|
0.00001
|
NM_000489.6(ATRX):c.3452G>C (p.Ser1151Thr)
|
rs782073135
|
0.00001
|
NM_000489.6(ATRX):c.3462A>G (p.Ser1154=)
|
rs782121260
|
0.00001
|
NM_000489.6(ATRX):c.3465A>G (p.Ser1155=)
|
rs1398718902
|
0.00001
|
NM_000489.6(ATRX):c.3555G>C (p.Lys1185Asn)
|
rs782696086
|
0.00001
|
NM_000489.6(ATRX):c.3564C>T (p.Ser1188=)
|
rs1428207455
|
0.00001
|
NM_000489.6(ATRX):c.357G>A (p.Gln119=)
|
rs959739617
|
0.00001
|
NM_000489.6(ATRX):c.357G>C (p.Gln119His)
|
rs959739617
|
0.00001
|
NM_000489.6(ATRX):c.3621T>C (p.Asp1207=)
|
rs782370433
|
0.00001
|
NM_000489.6(ATRX):c.3623T>C (p.Ile1208Thr)
|
rs374291079
|
0.00001
|
NM_000489.6(ATRX):c.3649G>C (p.Gly1217Arg)
|
rs781917332
|
0.00001
|
NM_000489.6(ATRX):c.3663C>T (p.Ser1221=)
|
rs1214349616
|
0.00001
|
NM_000489.6(ATRX):c.3701T>G (p.Val1234Gly)
|
rs782816523
|
0.00001
|
NM_000489.6(ATRX):c.3729A>G (p.Gln1243=)
|
rs782100721
|
0.00001
|
NM_000489.6(ATRX):c.3768C>A (p.Val1256=)
|
rs782065949
|
0.00001
|
NM_000489.6(ATRX):c.3843A>G (p.Lys1281=)
|
rs782389922
|
0.00001
|
NM_000489.6(ATRX):c.3850C>T (p.Leu1284Phe)
|
rs782619383
|
0.00001
|
NM_000489.6(ATRX):c.3855C>T (p.Ser1285=)
|
rs1373544966
|
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.4014T>C (p.His1338=)
|
rs1361253428
|
0.00001
|
NM_000489.6(ATRX):c.4025G>A (p.Arg1342Gln)
|
rs782802388
|
0.00001
|
NM_000489.6(ATRX):c.4047C>T (p.Asp1349=)
|
rs199625659
|
0.00001
|
NM_000489.6(ATRX):c.4048G>A (p.Gly1350Arg)
|
rs782726588
|
0.00001
|
NM_000489.6(ATRX):c.4072A>G (p.Thr1358Ala)
|
rs781912326
|
0.00001
|
NM_000489.6(ATRX):c.4073C>T (p.Thr1358Ile)
|
rs1557124033
|
0.00001
|
NM_000489.6(ATRX):c.4089T>C (p.His1363=)
|
rs1557124022
|
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.4214+3_4214+6dup
|
rs1603106285
|
0.00001
|
NM_000489.6(ATRX):c.4249C>T (p.Arg1417Trp)
|
rs1557118764
|
0.00001
|
NM_000489.6(ATRX):c.4250G>A (p.Arg1417Gln)
|
rs1557118749
|
0.00001
|
NM_000489.6(ATRX):c.4317+8T>C
|
rs2069418640
|
0.00001
|
NM_000489.6(ATRX):c.4368G>A (p.Glu1456=)
|
rs1557117399
|
0.00001
|
NM_000489.6(ATRX):c.4443G>A (p.Arg1481=)
|
rs782381607
|
0.00001
|
NM_000489.6(ATRX):c.4482A>G (p.Gln1494=)
|
rs2069279265
|
0.00001
|
NM_000489.6(ATRX):c.4558-4G>C
|
rs1256242126
|
0.00001
|
NM_000489.6(ATRX):c.480C>T (p.Arg160=)
|
rs1422750101
|
0.00001
|
NM_000489.6(ATRX):c.4810-4dup
|
rs1189309413
|
0.00001
|
NM_000489.6(ATRX):c.4810-9T>C
|
rs782465769
|
0.00001
|
NM_000489.6(ATRX):c.481G>A (p.Gly161Arg)
|
rs1569540314
|
0.00001
|
NM_000489.6(ATRX):c.4837T>C (p.Leu1613=)
|
rs1557106749
|
0.00001
|
NM_000489.6(ATRX):c.4848A>G (p.Lys1616=)
|
rs1260145428
|
0.00001
|
NM_000489.6(ATRX):c.4863G>A (p.Thr1621=)
|
rs782108010
|
0.00001
|
NM_000489.6(ATRX):c.4875T>G (p.Val1625=)
|
rs1557106699
|
0.00001
|
NM_000489.6(ATRX):c.5000A>G (p.Tyr1667Cys)
|
rs1557106489
|
0.00001
|
NM_000489.6(ATRX):c.5114A>G (p.Asn1705Ser)
|
rs782709380
|
0.00001
|
NM_000489.6(ATRX):c.5175A>G (p.Lys1725=)
|
rs1557099296
|
0.00001
|
NM_000489.6(ATRX):c.5178T>C (p.Asn1726=)
|
rs781985999
|
0.00001
|
NM_000489.6(ATRX):c.5217A>C (p.Arg1739=)
|
rs1557099248
|
0.00001
|
NM_000489.6(ATRX):c.5406A>G (p.Lys1802=)
|
rs1200376246
|
0.00001
|
NM_000489.6(ATRX):c.5448+10T>A
|
rs781958851
|
0.00001
|
NM_000489.6(ATRX):c.5449-5T>C
|
rs781889439
|
0.00001
|
NM_000489.6(ATRX):c.5449-8A>G
|
rs782578376
|
0.00001
|
NM_000489.6(ATRX):c.5511G>A (p.Val1837=)
|
rs1557097029
|
0.00001
|
NM_000489.6(ATRX):c.5542C>G (p.Gln1848Glu)
|
rs1557096992
|
0.00001
|
NM_000489.6(ATRX):c.5559C>T (p.His1853=)
|
rs1557096973
|
0.00001
|
NM_000489.6(ATRX):c.5567-6G>C
|
rs782742107
|
0.00001
|
NM_000489.6(ATRX):c.5589T>C (p.Gly1863=)
|
rs192385704
|
0.00001
|
NM_000489.6(ATRX):c.5591G>T (p.Gly1864Val)
|
rs151220806
|
0.00001
|
NM_000489.6(ATRX):c.5604A>G (p.Ala1868=)
|
rs1557086553
|
0.00001
|
NM_000489.6(ATRX):c.561T>C (p.Tyr187=)
|
rs1259166194
|
0.00001
|
NM_000489.6(ATRX):c.5786+8G>A
|
rs371884837
|
0.00001
|
NM_000489.6(ATRX):c.5799A>G (p.Lys1933=)
|
rs1557085918
|
0.00001
|
NM_000489.6(ATRX):c.5811G>A (p.Gly1937=)
|
rs1557085888
|
0.00001
|
NM_000489.6(ATRX):c.5927A>G (p.Asn1976Ser)
|
rs782151425
|
0.00001
|
NM_000489.6(ATRX):c.5935G>C (p.Val1979Leu)
|
rs782773652
|
0.00001
|
NM_000489.6(ATRX):c.594+8A>G
|
rs1557145476
|
0.00001
|
NM_000489.6(ATRX):c.5956+14A>G
|
rs782188755
|
0.00001
|
NM_000489.6(ATRX):c.5957-5T>C
|
rs371247036
|
0.00001
|
NM_000489.6(ATRX):c.5957-6A>G
|
rs781817248
|
0.00001
|
NM_000489.6(ATRX):c.6172A>G (p.Ser2058Gly)
|
rs1473492502
|
0.00001
|
NM_000489.6(ATRX):c.6204C>T (p.Pro2068=)
|
rs782631268
|
0.00001
|
NM_000489.6(ATRX):c.6222G>A (p.Glu2074=)
|
rs782377870
|
0.00001
|
NM_000489.6(ATRX):c.6240C>T (p.Asn2080=)
|
rs1557069232
|
0.00001
|
NM_000489.6(ATRX):c.631C>T (p.Arg211Cys)
|
rs782241890
|
0.00001
|
NM_000489.6(ATRX):c.6366A>C (p.Leu2122=)
|
rs1239403082
|
0.00001
|
NM_000489.6(ATRX):c.6414T>G (p.Ser2138=)
|
rs1557060338
|
0.00001
|
NM_000489.6(ATRX):c.6486A>G (p.Val2162=)
|
rs374952152
|
0.00001
|
NM_000489.6(ATRX):c.6489T>C (p.Tyr2163=)
|
rs782352246
|
0.00001
|
NM_000489.6(ATRX):c.6606T>C (p.Asn2202=)
|
rs782789594
|
0.00001
|
NM_000489.6(ATRX):c.663-16C>G
|
rs781981978
|
0.00001
|
NM_000489.6(ATRX):c.663-17T>C
|
rs782155630
|
0.00001
|
NM_000489.6(ATRX):c.6643T>C (p.Leu2215=)
|
rs782060162
|
0.00001
|
NM_000489.6(ATRX):c.6691C>T (p.Leu2231=)
|
rs1308577247
|
0.00001
|
NM_000489.6(ATRX):c.6700-6A>G
|
rs887572588
|
0.00001
|
NM_000489.6(ATRX):c.672G>A (p.Ala224=)
|
rs782223625
|
0.00001
|
NM_000489.6(ATRX):c.6885C>T (p.Thr2295=)
|
rs1557041874
|
0.00001
|
NM_000489.6(ATRX):c.6918T>C (p.Thr2306=)
|
rs1557041826
|
0.00001
|
NM_000489.6(ATRX):c.6927T>A (p.Ile2309=)
|
rs1557041797
|
0.00001
|
NM_000489.6(ATRX):c.6933C>T (p.Phe2311=)
|
rs1557041781
|
0.00001
|
NM_000489.6(ATRX):c.699C>T (p.Asp233=)
|
rs782623313
|
0.00001
|
NM_000489.6(ATRX):c.7066G>T (p.Ala2356Ser)
|
rs1339589345
|
0.00001
|
NM_000489.6(ATRX):c.7071+9A>G
|
rs1227242737
|
0.00001
|
NM_000489.6(ATRX):c.7072-8T>C
|
rs782602387
|
0.00001
|
NM_000489.6(ATRX):c.7168A>G (p.Ile2390Val)
|
rs1049073136
|
0.00001
|
NM_000489.6(ATRX):c.7320G>A (p.Lys2440=)
|
rs149242238
|
0.00001
|
NM_000489.6(ATRX):c.7379A>G (p.Tyr2460Cys)
|
rs782169215
|
0.00001
|
NM_000489.6(ATRX):c.7421G>A (p.Arg2474His)
|
rs781835425
|
0.00001
|
NM_000489.6(ATRX):c.7428A>T (p.Pro2476=)
|
rs1557034710
|
0.00001
|
NM_000489.6(ATRX):c.7429C>A (p.Pro2477Thr)
|
rs1557034699
|
0.00001
|
NM_000489.6(ATRX):c.7474A>G (p.Met2492Val)
|
rs782741679
|
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
|
NM_000489.6(ATRX):c.952A>G (p.Lys318Glu)
|
rs2071431960
|
0.00001
|
NM_000489.6(ATRX):c.1011C>T (p.Gly337=)
|
rs2148632537
|
|
NM_000489.6(ATRX):c.1013C>G (p.Ser338Cys)
|
|
|
NM_000489.6(ATRX):c.1029T>C (p.Tyr343=)
|
rs2148632087
|
|
NM_000489.6(ATRX):c.1036C>G (p.Leu346Val)
|
|
|
NM_000489.6(ATRX):c.1044G>A (p.Val348=)
|
rs2148631701
|
|
NM_000489.6(ATRX):c.1044G>T (p.Val348=)
|
rs2148631701
|
|
NM_000489.6(ATRX):c.1050A>G (p.Lys350=)
|
|
|
NM_000489.6(ATRX):c.1068A>G (p.Ala356=)
|
rs2148631255
|
|
NM_000489.6(ATRX):c.1080T>A (p.Ile360=)
|
rs2071423086
|
|
NM_000489.6(ATRX):c.1080T>C (p.Ile360=)
|
|
|
NM_000489.6(ATRX):c.1086C>T (p.Thr362=)
|
|
|
NM_000489.6(ATRX):c.108A>G (p.Pro36=)
|
rs782048051
|
|
NM_000489.6(ATRX):c.1104C>T (p.Ser368=)
|
rs2148630427
|
|
NM_000489.6(ATRX):c.1116A>G (p.Lys372=)
|
|
|
NM_000489.6(ATRX):c.1146A>G (p.Glu382=)
|
|
|
NM_000489.6(ATRX):c.1161A>C (p.Thr387=)
|
rs2148629135
|
|
NM_000489.6(ATRX):c.1161A>G (p.Thr387=)
|
rs2148629135
|
|
NM_000489.6(ATRX):c.1173G>A (p.Gln391=)
|
|
|
NM_000489.6(ATRX):c.1191T>A (p.Ser397=)
|
rs2148628553
|
|
NM_000489.6(ATRX):c.1195T>C (p.Leu399=)
|
rs1276570205
|
|
NM_000489.6(ATRX):c.1203T>C (p.Asp401=)
|
rs1557142168
|
|
NM_000489.6(ATRX):c.1212G>A (p.Lys404=)
|
|
|
NM_000489.6(ATRX):c.1218T>C (p.His406=)
|
|
|
NM_000489.6(ATRX):c.1225T>C (p.Leu409=)
|
rs1569539349
|
|
NM_000489.6(ATRX):c.1236C>G (p.Asp412Glu)
|
|
|
NM_000489.6(ATRX):c.1266T>C (p.Ala422=)
|
|
|
NM_000489.6(ATRX):c.1266T>G (p.Ala422=)
|
rs1557142003
|
|
NM_000489.6(ATRX):c.1267G>A (p.Val423Ile)
|
|
|
NM_000489.6(ATRX):c.1286C>G (p.Thr429Ser)
|
|
|
NM_000489.6(ATRX):c.1290A>G (p.Lys430=)
|
rs1569539312
|
|
NM_000489.6(ATRX):c.1302C>A (p.Val434=)
|
|
|
NM_000489.6(ATRX):c.1302C>T (p.Val434=)
|
|
|
NM_000489.6(ATRX):c.1321A>G (p.Thr441Ala)
|
|
|
NM_000489.6(ATRX):c.1323A>G (p.Thr441=)
|
rs2148625630
|
|
NM_000489.6(ATRX):c.1326A>G (p.Lys442=)
|
|
|
NM_000489.6(ATRX):c.133+20G>A
|
|
|
NM_000489.6(ATRX):c.134-12C>A
|
|
|
NM_000489.6(ATRX):c.134-13T>C
|
rs1392467229
|
|
NM_000489.6(ATRX):c.134-16A>G
|
|
|
NM_000489.6(ATRX):c.134-17T>C
|
|
|
NM_000489.6(ATRX):c.134-20_134-17del
|
|
|
NM_000489.6(ATRX):c.134-9C>A
|
rs782350220
|
|
NM_000489.6(ATRX):c.134-9C>T
|
rs782350220
|
|
NM_000489.6(ATRX):c.134-9_134-7del
|
rs2072322266
|
|
NM_000489.6(ATRX):c.135T>C (p.Asp45=)
|
rs2148685985
|
|
NM_000489.6(ATRX):c.1374A>C (p.Ser458=)
|
rs2148624322
|
|
NM_000489.6(ATRX):c.1379C>T (p.Ser460Leu)
|
|
|
NM_000489.6(ATRX):c.1380A>T (p.Ser460=)
|
|
|
NM_000489.6(ATRX):c.1387A>C (p.Lys463Gln)
|
|
|
NM_000489.6(ATRX):c.1392T>G (p.Leu464=)
|
|
|
NM_000489.6(ATRX):c.1394C>T (p.Ser465Leu)
|
|
|
NM_000489.6(ATRX):c.1402C>G (p.Gln468Glu)
|
|
|
NM_000489.6(ATRX):c.1404G>A (p.Gln468=)
|
|
|
NM_000489.6(ATRX):c.1410T>C (p.Asp470=)
|
rs2071399261
|
|
NM_000489.6(ATRX):c.1416G>A (p.Glu472=)
|
|
|
NM_000489.6(ATRX):c.1419C>T (p.His473=)
|
|
|
NM_000489.6(ATRX):c.1428G>A (p.Gln476=)
|
|
|
NM_000489.6(ATRX):c.142A>G (p.Ser48Gly)
|
|
|
NM_000489.6(ATRX):c.142A>T (p.Ser48Cys)
|
rs1557151486
|
|
NM_000489.6(ATRX):c.1437A>C (p.Pro479=)
|
|
|
NM_000489.6(ATRX):c.1440A>G (p.Thr480=)
|
rs2148622503
|
|
NM_000489.6(ATRX):c.1440A>T (p.Thr480=)
|
|
|
NM_000489.6(ATRX):c.1446A>G (p.Glu482=)
|
rs886044778
|
|
NM_000489.6(ATRX):c.1454C>G (p.Thr485Arg)
|
|
|
NM_000489.6(ATRX):c.1458T>C (p.Asn486=)
|
rs2148622068
|
|
NM_000489.6(ATRX):c.1487C>G (p.Ser496Cys)
|
|
|
NM_000489.6(ATRX):c.1496A>G (p.Lys499Arg)
|
|
|
NM_000489.6(ATRX):c.1504C>A (p.Pro502Thr)
|
|
|
NM_000489.6(ATRX):c.1509A>G (p.Gln503=)
|
rs1039587651
|
|
NM_000489.6(ATRX):c.1536T>C (p.Asp512=)
|
rs2148620275
|
|
NM_000489.6(ATRX):c.1543A>G (p.Met515Val)
|
|
|
NM_000489.6(ATRX):c.1554G>A (p.Val518=)
|
rs2148619900
|
|
NM_000489.6(ATRX):c.1555T>G (p.Ser519Ala)
|
|
|
NM_000489.6(ATRX):c.1581C>G (p.Asp527Glu)
|
|
|
NM_000489.6(ATRX):c.1581C>T (p.Asp527=)
|
rs782673700
|
|
NM_000489.6(ATRX):c.1596T>G (p.Leu532=)
|
|
|
NM_000489.6(ATRX):c.15C>G (p.Pro5=)
|
rs1557207602
|
|
NM_000489.6(ATRX):c.1639G>A (p.Asp547Asn)
|
|
|
NM_000489.6(ATRX):c.1643G>A (p.Gly548Asp)
|
|
|
NM_000489.6(ATRX):c.1656T>C (p.Thr552=)
|
rs781971866
|
|
NM_000489.6(ATRX):c.1662A>G (p.Gln554=)
|
rs2148617521
|
|
NM_000489.6(ATRX):c.1665A>G (p.Glu555=)
|
|
|
NM_000489.6(ATRX):c.1677A>G (p.Ser559=)
|
rs782560764
|
|
NM_000489.6(ATRX):c.1693A>G (p.Ile565Val)
|
|
|
NM_000489.6(ATRX):c.1698T>C (p.Ser566=)
|
|
|
NM_000489.6(ATRX):c.1706A>G (p.Asp569Gly)
|
|
|
NM_000489.6(ATRX):c.1713A>G (p.Arg571=)
|
|
|
NM_000489.6(ATRX):c.1719T>C (p.Gly573=)
|
|
|
NM_000489.6(ATRX):c.1725A>G (p.Lys575=)
|
rs2148616095
|
|
NM_000489.6(ATRX):c.1728A>G (p.Ser576=)
|
rs2148616057
|
|
NM_000489.6(ATRX):c.1731A>G (p.Lys577=)
|
|
|
NM_000489.6(ATRX):c.1734T>C (p.Thr578=)
|
|
|
NM_000489.6(ATRX):c.1737A>T (p.Thr579=)
|
rs2148615862
|
|
NM_000489.6(ATRX):c.1741A>C (p.Lys581Gln)
|
|
|
NM_000489.6(ATRX):c.1789A>G (p.Asn597Asp)
|
|
|
NM_000489.6(ATRX):c.1794C>G (p.Ser598=)
|
|
|
NM_000489.6(ATRX):c.1809T>C (p.Ala603=)
|
|
|
NM_000489.6(ATRX):c.1810G>C (p.Asp604His)
|
|
|
NM_000489.6(ATRX):c.1818G>A (p.Gln606=)
|
|
|
NM_000489.6(ATRX):c.1827A>G (p.Pro609=)
|
rs1603222884
|
|
NM_000489.6(ATRX):c.1833T>C (p.Asp611=)
|
rs2148613876
|
|
NM_000489.6(ATRX):c.183G>A (p.Lys61=)
|
|
|
NM_000489.6(ATRX):c.1842C>T (p.Gly614=)
|
rs2071364653
|
|
NM_000489.6(ATRX):c.1844A>G (p.Tyr615Cys)
|
rs782184873
|
|
NM_000489.6(ATRX):c.1860G>A (p.Leu620=)
|
rs2148613217
|
|
NM_000489.6(ATRX):c.1865C>T (p.Pro622Leu)
|
|
|
NM_000489.6(ATRX):c.1878A>G (p.Lys626=)
|
rs1557140595
|
|
NM_000489.6(ATRX):c.189+12T>C
|
|
|
NM_000489.6(ATRX):c.189+7A>T
|
|
|
NM_000489.6(ATRX):c.1890A>G (p.Gly630=)
|
rs782466655
|
|
NM_000489.6(ATRX):c.190-13G>A
|
|
|
NM_000489.6(ATRX):c.190-17T>G
|
|
|
NM_000489.6(ATRX):c.190-8A>C
|
rs1603245074
|
|
NM_000489.6(ATRX):c.1901G>C (p.Ser634Thr)
|
|
|
NM_000489.6(ATRX):c.1902T>C (p.Ser634=)
|
rs782229362
|
|
NM_000489.6(ATRX):c.1908T>C (p.Asn636=)
|
|
|
NM_000489.6(ATRX):c.1911G>A (p.Glu637=)
|
|
|
NM_000489.6(ATRX):c.1911G>C (p.Glu637Asp)
|
|
|
NM_000489.6(ATRX):c.1914T>C (p.His638=)
|
|
|
NM_000489.6(ATRX):c.1916T>G (p.Leu639Trp)
|
|
|
NM_000489.6(ATRX):c.1917G>A (p.Leu639=)
|
|
|
NM_000489.6(ATRX):c.1923A>G (p.Glu641=)
|
|
|
NM_000489.6(ATRX):c.1929A>G (p.Glu643=)
|
|
|
NM_000489.6(ATRX):c.1932T>G (p.Val644=)
|
|
|
NM_000489.6(ATRX):c.1938A>G (p.Leu646=)
|
rs2148611303
|
|
NM_000489.6(ATRX):c.1939C>A (p.Leu647Ile)
|
|
|
NM_000489.6(ATRX):c.1948G>C (p.Glu650Gln)
|
|
|
NM_000489.6(ATRX):c.1961G>A (p.Arg654Gln)
|
|
|
NM_000489.6(ATRX):c.1965A>G (p.Arg655=)
|
|
|
NM_000489.6(ATRX):c.1968C>G (p.Ser656=)
|
rs2148610400
|
|
NM_000489.6(ATRX):c.1968C>T (p.Ser656=)
|
rs2148610400
|
|
NM_000489.6(ATRX):c.1972C>T (p.Arg658Cys)
|
|
|
NM_000489.6(ATRX):c.1974T>G (p.Arg658=)
|
rs1603222314
|
|
NM_000489.6(ATRX):c.1977A>G (p.Val659=)
|
|
|
NM_000489.6(ATRX):c.1980G>A (p.Lys660=)
|
rs2148610085
|
|
NM_000489.6(ATRX):c.1986A>G (p.Thr662=)
|
rs2148609958
|
|
NM_000489.6(ATRX):c.1992G>A (p.Leu664=)
|
rs2148609791
|
|
NM_000489.6(ATRX):c.1997G>A (p.Arg666Gln)
|
|
|
NM_000489.6(ATRX):c.20+11A>G
|
|
|
NM_000489.6(ATRX):c.20+15C>A
|
|
|
NM_000489.6(ATRX):c.20+20C>T
|
|
|
NM_000489.6(ATRX):c.20+7C>T
|
rs2148994978
|
|
NM_000489.6(ATRX):c.2001G>C (p.Pro667=)
|
rs139997330
|
|
NM_000489.6(ATRX):c.2019A>G (p.Val673=)
|
|
|
NM_000489.6(ATRX):c.2040A>G (p.Glu680=)
|
|
|
NM_000489.6(ATRX):c.204A>G (p.Ser68=)
|
rs2072255187
|
|
NM_000489.6(ATRX):c.2058G>A (p.Lys686=)
|
|
|
NM_000489.6(ATRX):c.2082A>T (p.Pro694=)
|
|
|
NM_000489.6(ATRX):c.2085G>A (p.Val695=)
|
|
|
NM_000489.6(ATRX):c.2085G>C (p.Val695=)
|
rs2148607292
|
|
NM_000489.6(ATRX):c.21-10G>A
|
|
|
NM_000489.6(ATRX):c.2120C>G (p.Ala707Gly)
|
|
|
NM_000489.6(ATRX):c.2124A>G (p.Ile708Met)
|
|
|
NM_000489.6(ATRX):c.2136G>A (p.Lys712=)
|
rs2071344638
|
|
NM_000489.6(ATRX):c.2144_2145delinsCT (p.Lys715Thr)
|
rs1603221650
|
|
NM_000489.6(ATRX):c.2160G>A (p.Lys720=)
|
|
|
NM_000489.6(ATRX):c.2166A>G (p.Ser722=)
|
rs2148605269
|
|
NM_000489.6(ATRX):c.2169G>A (p.Glu723=)
|
|
|
NM_000489.6(ATRX):c.216G>A (p.Lys72=)
|
rs2148681410
|
|
NM_000489.6(ATRX):c.2172T>C (p.Thr724=)
|
|
|
NM_000489.6(ATRX):c.2184T>C (p.Asn728=)
|
|
|
NM_000489.6(ATRX):c.2214C>G (p.Leu738=)
|
|
|
NM_000489.6(ATRX):c.2218G>A (p.Glu740Lys)
|
|
|
NM_000489.6(ATRX):c.2220G>A (p.Glu740=)
|
|
|
NM_000489.6(ATRX):c.2234G>A (p.Ser745Asn)
|
rs782685015
|
|
NM_000489.6(ATRX):c.2234G>C (p.Ser745Thr)
|
rs782685015
|
|
NM_000489.6(ATRX):c.2241T>C (p.Ser747=)
|
rs1603221262
|
|
NM_000489.6(ATRX):c.2249C>T (p.Ser750Leu)
|
|
|
NM_000489.6(ATRX):c.2253T>C (p.Asp751=)
|
rs2071332682
|
|
NM_000489.6(ATRX):c.2277A>G (p.Thr759=)
|
rs2148602323
|
|
NM_000489.6(ATRX):c.2282A>G (p.His761Arg)
|
|
|
NM_000489.6(ATRX):c.2283T>C (p.His761=)
|
rs2148602060
|
|
NM_000489.6(ATRX):c.2289T>C (p.Thr763=)
|
|
|
NM_000489.6(ATRX):c.2305A>G (p.Thr769Ala)
|
|
|
NM_000489.6(ATRX):c.2310G>C (p.Gln770His)
|
|
|
NM_000489.6(ATRX):c.2312C>A (p.Ala771Glu)
|
rs376906761
|
|
NM_000489.6(ATRX):c.2316G>T (p.Gly772=)
|
rs1187990991
|
|
NM_000489.6(ATRX):c.2319A>G (p.Lys773=)
|
rs2148600893
|
|
NM_000489.6(ATRX):c.2325T>C (p.Asp775=)
|
rs2148600693
|
|
NM_000489.6(ATRX):c.2334A>G (p.Lys778=)
|
|
|
NM_000489.6(ATRX):c.2340A>G (p.Lys780=)
|
rs1603220796
|
|
NM_000489.6(ATRX):c.2355A>C (p.Thr785=)
|
|
|
NM_000489.6(ATRX):c.2355A>G (p.Thr785=)
|
|
|
NM_000489.6(ATRX):c.2361C>A (p.Gly787=)
|
rs2148599810
|
|
NM_000489.6(ATRX):c.2377A>G (p.Lys793Glu)
|
|
|
NM_000489.6(ATRX):c.2391A>T (p.Ser797=)
|
rs2148599103
|
|
NM_000489.6(ATRX):c.2400C>G (p.Ser800Arg)
|
|
|
NM_000489.6(ATRX):c.2404A>G (p.Ile802Val)
|
|
|
NM_000489.6(ATRX):c.2416A>C (p.Lys806Gln)
|
|
|
NM_000489.6(ATRX):c.242+10T>C
|
|
|
NM_000489.6(ATRX):c.242+18G>A
|
|
|
NM_000489.6(ATRX):c.242+9A>C
|
rs371441206
|
|
NM_000489.6(ATRX):c.2421A>G (p.Lys807=)
|
|
|
NM_000489.6(ATRX):c.243-17A>G
|
|
|
NM_000489.6(ATRX):c.243-8dup
|
rs1569540561
|
|
NM_000489.6(ATRX):c.2441C>G (p.Ser814Cys)
|
|
|
NM_000489.6(ATRX):c.2442T>G (p.Ser814=)
|
rs1603220311
|
|
NM_000489.6(ATRX):c.2448T>C (p.Asn816=)
|
rs2148597542
|
|
NM_000489.6(ATRX):c.2451T>C (p.Tyr817=)
|
|
|
NM_000489.6(ATRX):c.2466A>C (p.Glu822Asp)
|
|
|
NM_000489.6(ATRX):c.2473A>T (p.Ile825Leu)
|
|
|
NM_000489.6(ATRX):c.2478G>C (p.Lys826Asn)
|
|
|
NM_000489.6(ATRX):c.2493T>C (p.Ile831=)
|
|
|
NM_000489.6(ATRX):c.2496T>C (p.Gly832=)
|
rs2148596137
|
|
NM_000489.6(ATRX):c.2498C>T (p.Ala833Val)
|
|
|
NM_000489.6(ATRX):c.249T>G (p.Pro83=)
|
|
|
NM_000489.6(ATRX):c.24A>G (p.Glu8=)
|
|
|
NM_000489.6(ATRX):c.2519G>C (p.Arg840Thr)
|
|
|
NM_000489.6(ATRX):c.2519G>T (p.Arg840Ile)
|
|
|
NM_000489.6(ATRX):c.2526A>G (p.Pro842=)
|
|
|
NM_000489.6(ATRX):c.252A>C (p.Ser84=)
|
rs2148677928
|
|
NM_000489.6(ATRX):c.252A>G (p.Ser84=)
|
rs2148677928
|
|
NM_000489.6(ATRX):c.2547T>C (p.Ser849=)
|
rs2148594824
|
|
NM_000489.6(ATRX):c.2550T>C (p.Ser850=)
|
|
|
NM_000489.6(ATRX):c.2565C>T (p.His855=)
|
rs2148594303
|
|
NM_000489.6(ATRX):c.2574A>T (p.Lys858Asn)
|
|
|
NM_000489.6(ATRX):c.2575G>C (p.Gly859Arg)
|
|
|
NM_000489.6(ATRX):c.2592G>T (p.Gly864=)
|
rs782526944
|
|
NM_000489.6(ATRX):c.2595C>T (p.His865=)
|
rs61752455
|
|
NM_000489.6(ATRX):c.2601T>C (p.Asn867=)
|
|
|
NM_000489.6(ATRX):c.2610C>G (p.Thr870=)
|
rs782743152
|
|
NM_000489.6(ATRX):c.2610C>T (p.Thr870=)
|
|
|
NM_000489.6(ATRX):c.2616A>G (p.Gln872=)
|
|
|
NM_000489.6(ATRX):c.261A>C (p.Thr87=)
|
|
|
NM_000489.6(ATRX):c.2625A>G (p.Ser875=)
|
|
|
NM_000489.6(ATRX):c.2629G>A (p.Asp877Asn)
|
rs886044896
|
|
NM_000489.6(ATRX):c.2640A>G (p.Glu880=)
|
rs2148592348
|
|
NM_000489.6(ATRX):c.264G>A (p.Lys88=)
|
rs782056075
|
|
NM_000489.6(ATRX):c.2653A>C (p.Arg885=)
|
rs1603219083
|
|
NM_000489.6(ATRX):c.2664C>T (p.Phe888=)
|
|
|
NM_000489.6(ATRX):c.2667T>G (p.Ser889=)
|
|
|
NM_000489.6(ATRX):c.2673A>G (p.Ala891=)
|
rs2148591602
|
|
NM_000489.6(ATRX):c.2677G>C (p.Gly893Arg)
|
|
|
NM_000489.6(ATRX):c.267T>C (p.Tyr89=)
|
rs2148677803
|
|
NM_000489.6(ATRX):c.2688T>C (p.Asp896=)
|
rs2148591201
|
|
NM_000489.6(ATRX):c.2691A>C (p.Lys897Asn)
|
|
|
NM_000489.6(ATRX):c.2694C>T (p.Asp898=)
|
|
|
NM_000489.6(ATRX):c.2703C>T (p.Ile901=)
|
rs2148590818
|
|
NM_000489.6(ATRX):c.2721A>G (p.Arg907=)
|
|
|
NM_000489.6(ATRX):c.2769G>A (p.Lys923=)
|
rs2148589245
|
|
NM_000489.6(ATRX):c.2783A>G (p.Glu928Gly)
|
|
|
NM_000489.6(ATRX):c.2796T>C (p.Thr932=)
|
rs2071269397
|
|
NM_000489.6(ATRX):c.2806G>T (p.Val936Phe)
|
rs149232501
|
|
NM_000489.6(ATRX):c.2812A>G (p.Lys938Glu)
|
|
|
NM_000489.6(ATRX):c.2814A>G (p.Lys938=)
|
|
|
NM_000489.6(ATRX):c.2829A>G (p.Lys943=)
|
rs2148587852
|
|
NM_000489.6(ATRX):c.2830G>C (p.Glu944Gln)
|
|
|
NM_000489.6(ATRX):c.2837G>T (p.Ser946Ile)
|
|
|
NM_000489.6(ATRX):c.2853C>T (p.Thr951=)
|
rs2148587341
|
|
NM_000489.6(ATRX):c.2861G>T (p.Cys954Phe)
|
|
|
NM_000489.6(ATRX):c.2874G>A (p.Gln958=)
|
|
|
NM_000489.6(ATRX):c.2876A>G (p.Asp959Gly)
|
|
|
NM_000489.6(ATRX):c.2877T>C (p.Asp959=)
|
rs2148586813
|
|
NM_000489.6(ATRX):c.2883A>G (p.Leu961=)
|
rs2148586654
|
|
NM_000489.6(ATRX):c.2898G>A (p.Glu966=)
|
rs138256318
|
|
NM_000489.6(ATRX):c.2907A>G (p.Leu969=)
|
rs782330959
|
|
NM_000489.6(ATRX):c.2910G>A (p.Lys970=)
|
|
|
NM_000489.6(ATRX):c.2928A>G (p.Glu976=)
|
|
|
NM_000489.6(ATRX):c.2934T>C (p.Ser978=)
|
|
|
NM_000489.6(ATRX):c.2935G>C (p.Glu979Gln)
|
|
|
NM_000489.6(ATRX):c.2939A>G (p.Asp980Gly)
|
|
|
NM_000489.6(ATRX):c.2961G>A (p.Lys987=)
|
|
|
NM_000489.6(ATRX):c.2971G>C (p.Glu991Gln)
|
|
|
NM_000489.6(ATRX):c.2973A>G (p.Glu991=)
|
rs2148584456
|
|
NM_000489.6(ATRX):c.2988A>G (p.Ser996=)
|
|
|
NM_000489.6(ATRX):c.2991C>T (p.Asp997=)
|
|
|
NM_000489.6(ATRX):c.3003A>C (p.Lys1001Asn)
|
rs782295266
|
|
NM_000489.6(ATRX):c.3003A>G (p.Lys1001=)
|
|
|
NM_000489.6(ATRX):c.300T>C (p.Asp100=)
|
rs1603243650
|
|
NM_000489.6(ATRX):c.3012A>C (p.Lys1004Asn)
|
|
|
NM_000489.6(ATRX):c.3013A>G (p.Met1005Val)
|
|
|
NM_000489.6(ATRX):c.3018A>G (p.Glu1006=)
|
rs2148583558
|
|
NM_000489.6(ATRX):c.3028G>A (p.Glu1010Lys)
|
|
|
NM_000489.6(ATRX):c.3048T>C (p.Thr1016=)
|
|
|
NM_000489.6(ATRX):c.3063G>A (p.Glu1021=)
|
rs2071246611
|
|
NM_000489.6(ATRX):c.3066A>G (p.Arg1022=)
|
|
|
NM_000489.6(ATRX):c.306T>G (p.Thr102=)
|
|
|
NM_000489.6(ATRX):c.3086C>T (p.Pro1029Leu)
|
|
|
NM_000489.6(ATRX):c.3090G>C (p.Lys1030Asn)
|
|
|
NM_000489.6(ATRX):c.3108G>A (p.Lys1036=)
|
|
|
NM_000489.6(ATRX):c.3111T>C (p.Asn1037=)
|
|
|
NM_000489.6(ATRX):c.3120T>G (p.Thr1040=)
|
rs2148581284
|
|
NM_000489.6(ATRX):c.3122A>T (p.Asp1041Val)
|
|
|
NM_000489.6(ATRX):c.3137_3145del (p.Ser1046_Lys1048del)
|
rs781799810
|
|
NM_000489.6(ATRX):c.3145A>G (p.Ile1049Val)
|
|
|
NM_000489.6(ATRX):c.3146T>C (p.Ile1049Thr)
|
|
|
NM_000489.6(ATRX):c.3153T>C (p.Asp1051=)
|
rs1453641319
|
|
NM_000489.6(ATRX):c.3166A>G (p.Lys1056Glu)
|
|
|
NM_000489.6(ATRX):c.3173A>G (p.Asp1058Gly)
|
|
|
NM_000489.6(ATRX):c.3178T>C (p.Leu1060=)
|
rs2148580080
|
|
NM_000489.6(ATRX):c.3180A>G (p.Leu1060=)
|
|
|
NM_000489.6(ATRX):c.3196A>G (p.Lys1066Glu)
|
|
|
NM_000489.6(ATRX):c.320C>T (p.Ala107Val)
|
|
|
NM_000489.6(ATRX):c.3219T>C (p.Ser1073=)
|
|
|
NM_000489.6(ATRX):c.3226T>G (p.Ser1076Ala)
|
|
|
NM_000489.6(ATRX):c.3231A>G (p.Ser1077=)
|
|
|
NM_000489.6(ATRX):c.3234G>A (p.Glu1078=)
|
|
|
NM_000489.6(ATRX):c.3258A>T (p.Ala1086=)
|
|
|
NM_000489.6(ATRX):c.3262G>A (p.Gly1088Ser)
|
|
|
NM_000489.6(ATRX):c.3267A>G (p.Arg1089=)
|
|
|
NM_000489.6(ATRX):c.3273G>A (p.Lys1091=)
|
rs2148577440
|
|
NM_000489.6(ATRX):c.3278G>T (p.Arg1093Met)
|
|
|
NM_000489.6(ATRX):c.3286T>C (p.Leu1096=)
|
|
|
NM_000489.6(ATRX):c.3288G>A (p.Leu1096=)
|
rs2148577039
|
|
NM_000489.6(ATRX):c.3291T>G (p.Leu1097=)
|
|
|
NM_000489.6(ATRX):c.3294A>G (p.Gly1098=)
|
|
|
NM_000489.6(ATRX):c.3324A>G (p.Ser1108=)
|
rs2148576136
|
|
NM_000489.6(ATRX):c.3327A>T (p.Ser1109=)
|
|
|
NM_000489.6(ATRX):c.3354A>G (p.Lys1118=)
|
|
|
NM_000489.6(ATRX):c.3358G>T (p.Asp1120Tyr)
|
rs1557137601
|
|
NM_000489.6(ATRX):c.3359A>T (p.Asp1120Val)
|
|
|
NM_000489.6(ATRX):c.3365G>T (p.Cys1122Phe)
|
|
|
NM_000489.6(ATRX):c.3369C>T (p.Asn1123=)
|
|
|
NM_000489.6(ATRX):c.3395T>A (p.Ile1132Lys)
|
|
|
NM_000489.6(ATRX):c.3400T>C (p.Leu1134=)
|
rs2148574294
|
|
NM_000489.6(ATRX):c.3414A>G (p.Arg1138=)
|
|
|
NM_000489.6(ATRX):c.3417T>C (p.Asn1139=)
|
rs1603216127
|
|
NM_000489.6(ATRX):c.3420A>G (p.Leu1140=)
|
|
|
NM_000489.6(ATRX):c.3422G>A (p.Ser1141Asn)
|
rs782785569
|
|
NM_000489.6(ATRX):c.3422G>C (p.Ser1141Thr)
|
|
|
NM_000489.6(ATRX):c.3440A>G (p.Lys1147Arg)
|
|
|
NM_000489.6(ATRX):c.3444A>C (p.Glu1148Asp)
|
|
|
NM_000489.6(ATRX):c.344A>T (p.Asp115Val)
|
|
|
NM_000489.6(ATRX):c.3456C>G (p.Gly1152=)
|
rs2071214967
|
|
NM_000489.6(ATRX):c.345T>C (p.Asp115=)
|
|
|
NM_000489.6(ATRX):c.3468T>C (p.Ser1156=)
|
|
|
NM_000489.6(ATRX):c.3471T>C (p.Asp1157=)
|
|
|
NM_000489.6(ATRX):c.3474T>C (p.Ala1158=)
|
rs1603215825
|
|
NM_000489.6(ATRX):c.3480A>G (p.Glu1160=)
|
|
|
NM_000489.6(ATRX):c.3491A>T (p.Asp1164Val)
|
|
|
NM_000489.6(ATRX):c.3495T>C (p.Asn1165=)
|
rs782405789
|
|
NM_000489.6(ATRX):c.3521C>T (p.Ser1174Phe)
|
|
|
NM_000489.6(ATRX):c.3532G>A (p.Ala1178Thr)
|
|
|
NM_000489.6(ATRX):c.3546G>A (p.Lys1182=)
|
|
|
NM_000489.6(ATRX):c.3565C>T (p.Leu1189=)
|
rs2148570011
|
|
NM_000489.6(ATRX):c.3569G>C (p.Arg1190Thr)
|
|
|
NM_000489.6(ATRX):c.3573A>C (p.Thr1191=)
|
|
|
NM_000489.6(ATRX):c.3579T>C (p.Thr1193=)
|
|
|
NM_000489.6(ATRX):c.3594T>C (p.Ala1198=)
|
rs2148569253
|
|
NM_000489.6(ATRX):c.3606C>A (p.Ser1202=)
|
|
|
NM_000489.6(ATRX):c.3620A>G (p.Asp1207Gly)
|
|
|
NM_000489.6(ATRX):c.3654G>A (p.Glu1218=)
|
|
|
NM_000489.6(ATRX):c.3696T>C (p.Asn1232=)
|
rs2071194249
|
|
NM_000489.6(ATRX):c.3699A>G (p.Leu1233=)
|
|
|
NM_000489.6(ATRX):c.370+11T>A
|
|
|
NM_000489.6(ATRX):c.370+6GT[2]
|
rs2148677044
|
|
NM_000489.6(ATRX):c.370+6del
|
rs2148677116
|
|
NM_000489.6(ATRX):c.370+7T>C
|
|
|
NM_000489.6(ATRX):c.3703C>T (p.Leu1235=)
|
rs782112095
|
|
NM_000489.6(ATRX):c.3708T>C (p.Ser1236=)
|
rs2148566474
|
|
NM_000489.6(ATRX):c.3711A>G (p.Ser1237=)
|
rs2148566364
|
|
NM_000489.6(ATRX):c.3714T>C (p.His1238=)
|
rs1264045408
|
|
NM_000489.6(ATRX):c.3736+16_3736+19del
|
|
|
NM_000489.6(ATRX):c.3736+18A>C
|
|
|
NM_000489.6(ATRX):c.3736+7_3736+11del
|
|
|
NM_000489.6(ATRX):c.3737-16A>G
|
|
|
NM_000489.6(ATRX):c.3737-16A>T
|
|
|
NM_000489.6(ATRX):c.3737-8C>T
|
rs2070862607
|
|
NM_000489.6(ATRX):c.3768C>T (p.Val1256=)
|
rs782065949
|
|
NM_000489.6(ATRX):c.3790G>A (p.Asp1264Asn)
|
|
|
NM_000489.6(ATRX):c.3801T>G (p.Pro1267=)
|
rs149717199
|
|
NM_000489.6(ATRX):c.3809+11A>G
|
|
|
NM_000489.6(ATRX):c.3809+12T>C
|
|
|
NM_000489.6(ATRX):c.3809+15G>C
|
|
|
NM_000489.6(ATRX):c.3810-14T>C
|
|
|
NM_000489.6(ATRX):c.3810-19A>G
|
|
|
NM_000489.6(ATRX):c.3810-6C>T
|
rs1603148801
|
|
NM_000489.6(ATRX):c.3840T>A (p.Ile1280=)
|
rs2148498302
|
|
NM_000489.6(ATRX):c.3861T>C (p.Asp1287=)
|
|
|
NM_000489.6(ATRX):c.3870A>G (p.Gly1290=)
|
|
|
NM_000489.6(ATRX):c.3873T>C (p.Ser1291=)
|
rs2148497602
|
|
NM_000489.6(ATRX):c.3878A>G (p.Asp1293Gly)
|
|
|
NM_000489.6(ATRX):c.3909T>G (p.Thr1303=)
|
|
|
NM_000489.6(ATRX):c.3933A>G (p.Pro1311=)
|
rs2148496532
|
|
NM_000489.6(ATRX):c.393G>A (p.Glu131=)
|
|
|
NM_000489.6(ATRX):c.3943+11C>T
|
|
|
NM_000489.6(ATRX):c.3943+14A>G
|
rs2148495994
|
|
NM_000489.6(ATRX):c.3943+17G>T
|
|
|
NM_000489.6(ATRX):c.3943+18_3943+20del
|
|
|
NM_000489.6(ATRX):c.3944-4T>C
|
rs2148490315
|
|
NM_000489.6(ATRX):c.3944-4T>G
|
rs2148490315
|
|
NM_000489.6(ATRX):c.3944-7C>T
|
rs2070047774
|
|
NM_000489.6(ATRX):c.3969A>G (p.Glu1323=)
|
rs2148489875
|
|
NM_000489.6(ATRX):c.3981T>C (p.Asp1327=)
|
rs2148489592
|
|
NM_000489.6(ATRX):c.3984T>C (p.Ser1328=)
|
|
|
NM_000489.6(ATRX):c.3984T>G (p.Ser1328=)
|
rs2148489508
|
|
NM_000489.6(ATRX):c.3999G>A (p.Lys1333=)
|
rs1434514176
|
|
NM_000489.6(ATRX):c.39A>G (p.Thr13=)
|
rs1244422748
|
|
NM_000489.6(ATRX):c.39A>T (p.Thr13=)
|
rs1244422748
|
|
NM_000489.6(ATRX):c.4008C>T (p.Tyr1336=)
|
rs2148489036
|
|
NM_000489.6(ATRX):c.4024C>A (p.Arg1342=)
|
|
|
NM_000489.6(ATRX):c.4032A>G (p.Lys1344=)
|
rs2148488592
|
|
NM_000489.6(ATRX):c.4035G>A (p.Leu1345=)
|
rs111725949
|
|
NM_000489.6(ATRX):c.4035G>C (p.Leu1345Phe)
|
|
|
NM_000489.6(ATRX):c.4053A>G (p.Glu1351=)
|
|
|
NM_000489.6(ATRX):c.4062A>G (p.Glu1354=)
|
|
|
NM_000489.6(ATRX):c.4065A>G (p.Glu1355=)
|
|
|
NM_000489.6(ATRX):c.4080T>C (p.Pro1360=)
|
|
|
NM_000489.6(ATRX):c.4081A>G (p.Lys1361Glu)
|
rs1886161029
|
|
NM_000489.6(ATRX):c.4091A>C (p.Lys1364Thr)
|
|
|
NM_000489.6(ATRX):c.4095A>G (p.Glu1365=)
|
rs2148487372
|
|
NM_000489.6(ATRX):c.4098C>G (p.Val1366=)
|
|
|
NM_000489.6(ATRX):c.4104C>G (p.Gly1368=)
|
rs782726352
|
|
NM_000489.6(ATRX):c.4121-11T>A
|
|
|
NM_000489.6(ATRX):c.4121-9A>C
|
rs2148461126
|
|
NM_000489.6(ATRX):c.4122G>A (p.Val1374=)
|
|
|
NM_000489.6(ATRX):c.4127G>A (p.Ser1376Asn)
|
|
|
NM_000489.6(ATRX):c.4147G>A (p.Asp1383Asn)
|
|
|
NM_000489.6(ATRX):c.4156G>A (p.Glu1386Lys)
|
|
|
NM_000489.6(ATRX):c.4170T>C (p.Ser1390=)
|
rs2148460865
|
|
NM_000489.6(ATRX):c.4189G>A (p.Glu1397Lys)
|
|
|
NM_000489.6(ATRX):c.4194T>C (p.Asp1398=)
|
|
|
NM_000489.6(ATRX):c.4202G>A (p.Arg1401Gln)
|
|
|
NM_000489.6(ATRX):c.4209A>G (p.Arg1403=)
|
|
|
NM_000489.6(ATRX):c.420T>C (p.Asp140=)
|
|
|
NM_000489.6(ATRX):c.4214+10T>A
|
rs2148460516
|
|
NM_000489.6(ATRX):c.4214+10T>C
|
rs2148460516
|
|
NM_000489.6(ATRX):c.4214+13del
|
|
|
NM_000489.6(ATRX):c.4214+14T>G
|
|
|
NM_000489.6(ATRX):c.4214+7T>C
|
rs2074841331
|
|
NM_000489.6(ATRX):c.4215-14T>C
|
|
|
NM_000489.6(ATRX):c.4215-15T>G
|
|
|
NM_000489.6(ATRX):c.4215-18G>A
|
|
|
NM_000489.6(ATRX):c.4215-20G>A
|
|
|
NM_000489.6(ATRX):c.4215-4T>A
|
rs2148451946
|
|
NM_000489.6(ATRX):c.4215-5G>C
|
rs111833322
|
|
NM_000489.6(ATRX):c.4215-9T>A
|
|
|
NM_000489.6(ATRX):c.4227A>G (p.Lys1409=)
|
|
|
NM_000489.6(ATRX):c.4227A>T (p.Lys1409Asn)
|
|
|
NM_000489.6(ATRX):c.4227_4230delinsT (p.Lys1409_Ala1410delinsAsn)
|
rs1603095546
|
|
NM_000489.6(ATRX):c.4230A>G (p.Ala1410=)
|
|
|
NM_000489.6(ATRX):c.4244A>G (p.Asn1415Ser)
|
|
|
NM_000489.6(ATRX):c.4248G>A (p.Gln1416=)
|
rs2148451212
|
|
NM_000489.6(ATRX):c.4251G>C (p.Arg1417=)
|
rs2148451112
|
|
NM_000489.6(ATRX):c.4257T>C (p.Tyr1419=)
|
rs2148450982
|
|
NM_000489.6(ATRX):c.426A>G (p.Lys142=)
|
rs2148669877
|
|
NM_000489.6(ATRX):c.4275G>A (p.Arg1425=)
|
rs1569535653
|
|
NM_000489.6(ATRX):c.4276C>A (p.Arg1426=)
|
rs919106518
|
|
NM_000489.6(ATRX):c.4287G>A (p.Lys1429=)
|
|
|
NM_000489.6(ATRX):c.429G>A (p.Gly143=)
|
rs2148669860
|
|
NM_000489.6(ATRX):c.4302A>C (p.Ser1434=)
|
|
|
NM_000489.6(ATRX):c.4305C>T (p.Ser1435=)
|
rs2148450065
|
|
NM_000489.6(ATRX):c.4312A>T (p.Asn1438Tyr)
|
|
|
NM_000489.6(ATRX):c.4317+11C>T
|
|
|
NM_000489.6(ATRX):c.4318-10A>C
|
rs781946372
|
|
NM_000489.6(ATRX):c.4318-4G>A
|
rs1557117484
|
|
NM_000489.6(ATRX):c.4318-6C>T
|
|
|
NM_000489.6(ATRX):c.4320T>C (p.Ser1440=)
|
|
|
NM_000489.6(ATRX):c.4341G>A (p.Glu1447=)
|
|
|
NM_000489.6(ATRX):c.4347AGA[1] (p.Glu1464del)
|
rs587780288
|
|
NM_000489.6(ATRX):c.4350A>G (p.Glu1450=)
|
rs1445980438
|
|
NM_000489.6(ATRX):c.4353GGA[2] (p.Glu1464del)
|
rs782630348
|
|
NM_000489.6(ATRX):c.4359G>A (p.Glu1453=)
|
|
|
NM_000489.6(ATRX):c.4362_4370del (p.Glu1462_Glu1464del)
|
rs781816162
|
|
NM_000489.6(ATRX):c.4365G>A (p.Glu1455=)
|
rs1569535350
|
|
NM_000489.6(ATRX):c.4365GGA[4] (p.Glu1464del)
|
rs398123423
|
|
NM_000489.6(ATRX):c.4371GGAGGAGGAAGA[1] (p.Glu1461_Glu1464del)
|
rs781854613
|
|
NM_000489.6(ATRX):c.4389G>A (p.Glu1463=)
|
|
|
NM_000489.6(ATRX):c.4401T>C (p.Asn1467=)
|
|
|
NM_000489.6(ATRX):c.4422A>C (p.Gly1474=)
|
rs1603084380
|
|
NM_000489.6(ATRX):c.4422A>G (p.Gly1474=)
|
rs1603084380
|
|
NM_000489.6(ATRX):c.4452T>C (p.Leu1484=)
|
|
|
NM_000489.6(ATRX):c.4458T>C (p.Asp1486=)
|
rs2148437345
|
|
NM_000489.6(ATRX):c.4464A>G (p.Lys1488=)
|
|
|
NM_000489.6(ATRX):c.4473A>G (p.Thr1491=)
|
rs1603084227
|
|
NM_000489.6(ATRX):c.4485T>C (p.Asn1495=)
|
rs2148436888
|
|
NM_000489.6(ATRX):c.4500G>A (p.Glu1500=)
|
rs1352445437
|
|
NM_000489.6(ATRX):c.4506G>A (p.Glu1502=)
|
|
|
NM_000489.6(ATRX):c.4512A>G (p.Arg1504=)
|
|
|
NM_000489.6(ATRX):c.4515A>G (p.Lys1505=)
|
|
|
NM_000489.6(ATRX):c.4524T>C (p.Ala1508=)
|
|
|
NM_000489.6(ATRX):c.4536T>A (p.Arg1512=)
|
|
|
NM_000489.6(ATRX):c.4539G>A (p.Glu1513=)
|
|
|
NM_000489.6(ATRX):c.4551G>A (p.Leu1517=)
|
|
|
NM_000489.6(ATRX):c.4557+12C>A
|
|
|
NM_000489.6(ATRX):c.4557+7A>G
|
|
|
NM_000489.6(ATRX):c.4557+8A>G
|
rs2148435001
|
|
NM_000489.6(ATRX):c.4558-12C>T
|
|
|
NM_000489.6(ATRX):c.4558-13C>T
|
|
|
NM_000489.6(ATRX):c.4558-19A>G
|
|
|
NM_000489.6(ATRX):c.4558-19A>T
|
|
|
NM_000489.6(ATRX):c.4569T>C (p.Ile1523=)
|
rs2148360789
|
|
NM_000489.6(ATRX):c.4586C>T (p.Thr1529Ile)
|
|
|
NM_000489.6(ATRX):c.4590G>A (p.Lys1530=)
|
rs2148360161
|
|
NM_000489.6(ATRX):c.4602A>C (p.Thr1534=)
|
|
|
NM_000489.6(ATRX):c.4611G>A (p.Leu1537=)
|
|
|
NM_000489.6(ATRX):c.4617A>G (p.Leu1539=)
|
|
|
NM_000489.6(ATRX):c.4665T>C (p.Asn1555=)
|
|
|
NM_000489.6(ATRX):c.4699+11A>G
|
|
|
NM_000489.6(ATRX):c.4700-18_4700-15del
|
|
|
NM_000489.6(ATRX):c.4700-8dup
|
|
|
NM_000489.6(ATRX):c.4701T>C (p.Gly1567=)
|
rs2148351062
|
|
NM_000489.6(ATRX):c.4740A>G (p.Lys1580=)
|
rs2068263661
|
|
NM_000489.6(ATRX):c.4755T>A (p.Ser1585=)
|
rs2148350086
|
|
NM_000489.6(ATRX):c.4779C>T (p.Ala1593=)
|
|
|
NM_000489.6(ATRX):c.4785T>C (p.Cys1595=)
|
|
|
NM_000489.6(ATRX):c.4794T>G (p.Leu1598=)
|
|
|
NM_000489.6(ATRX):c.4806A>G (p.Leu1602=)
|
|
|
NM_000489.6(ATRX):c.4809+13G>A
|
|
|
NM_000489.6(ATRX):c.4809+15A>G
|
|
|
NM_000489.6(ATRX):c.4809+17A>G
|
|
|
NM_000489.6(ATRX):c.4809+7G>A
|
|
|
NM_000489.6(ATRX):c.4810-16A>G
|
|
|
NM_000489.6(ATRX):c.4810-18C>T
|
rs2148344642
|
|
NM_000489.6(ATRX):c.4810-19A>G
|
rs1557106791
|
|
NM_000489.6(ATRX):c.4810-4A>C
|
rs2148344448
|
|
NM_000489.6(ATRX):c.4810-7C>T
|
|
|
NM_000489.6(ATRX):c.4810-7del
|
|
|
NM_000489.6(ATRX):c.4812G>A (p.Val1604=)
|
rs2148344333
|
|
NM_000489.6(ATRX):c.4824T>A (p.Leu1608=)
|
|
|
NM_000489.6(ATRX):c.4824T>G (p.Leu1608=)
|
rs782145428
|
|
NM_000489.6(ATRX):c.4830A>G (p.Thr1610=)
|
rs2148343983
|
|
NM_000489.6(ATRX):c.4836T>G (p.Leu1612=)
|
rs2068214357
|
|
NM_000489.6(ATRX):c.484+10A>G
|
rs2072038158
|
|
NM_000489.6(ATRX):c.484+11G>A
|
|
|
NM_000489.6(ATRX):c.484+20A>C
|
|
|
NM_000489.6(ATRX):c.485-11C>G
|
|
|
NM_000489.6(ATRX):c.485-4C>T
|
|
|
NM_000489.6(ATRX):c.485-7C>G
|
rs1225852818
|
|
NM_000489.6(ATRX):c.4869A>G (p.Leu1623=)
|
|
|
NM_000489.6(ATRX):c.4872G>T (p.Val1624=)
|
rs2148342914
|
|
NM_000489.6(ATRX):c.4887T>C (p.Asn1629=)
|
|
|
NM_000489.6(ATRX):c.48G>A (p.Gln16=)
|
rs2148752584
|
|
NM_000489.6(ATRX):c.4928A>C (p.Glu1643Ala)
|
|
|
NM_000489.6(ATRX):c.4935A>G (p.Leu1645=)
|
|
|
NM_000489.6(ATRX):c.4956+17G>A
|
|
|
NM_000489.6(ATRX):c.4956+18T>A
|
|
|
NM_000489.6(ATRX):c.4956+19T>C
|
|
|
NM_000489.6(ATRX):c.4956+19T>G
|
rs2148340621
|
|
NM_000489.6(ATRX):c.4957-17T>G
|
|
|
NM_000489.6(ATRX):c.4957-5A>C
|
|
|
NM_000489.6(ATRX):c.4957-5A>G
|
rs2068197953
|
|
NM_000489.6(ATRX):c.4957-8C>T
|
rs2148338815
|
|
NM_000489.6(ATRX):c.495T>C (p.Leu165=)
|
rs2148657392
|
|
NM_000489.6(ATRX):c.498T>C (p.His166=)
|
rs2148657337
|
|
NM_000489.6(ATRX):c.5005C>T (p.Leu1669=)
|
|
|
NM_000489.6(ATRX):c.5019A>G (p.Gln1673=)
|
rs2148336845
|
|
NM_000489.6(ATRX):c.5025T>C (p.Asp1675=)
|
rs2148336667
|
|
NM_000489.6(ATRX):c.5052G>A (p.Glu1684=)
|
|
|
NM_000489.6(ATRX):c.5067T>G (p.Leu1689=)
|
|
|
NM_000489.6(ATRX):c.5079G>A (p.Arg1693=)
|
rs2148335743
|
|
NM_000489.6(ATRX):c.5094G>A (p.Arg1698=)
|
|
|
NM_000489.6(ATRX):c.5097A>G (p.Lys1699=)
|
|
|
NM_000489.6(ATRX):c.5112T>C (p.Phe1704=)
|
rs2148335313
|
|
NM_000489.6(ATRX):c.5134+10T>C
|
rs1569533305
|
|
NM_000489.6(ATRX):c.5134+10_5134+11insTTA
|
|
|
NM_000489.6(ATRX):c.5134+16A>G
|
|
|
NM_000489.6(ATRX):c.5135-10A>G
|
rs1557099366
|
|
NM_000489.6(ATRX):c.5135-11del
|
rs2148272787
|
|
NM_000489.6(ATRX):c.5135-14G>A
|
|
|
NM_000489.6(ATRX):c.5135-16C>A
|
|
|
NM_000489.6(ATRX):c.5135-4G>A
|
|
|
NM_000489.6(ATRX):c.5135-6T>G
|
|
|
NM_000489.6(ATRX):c.5135-8T>C
|
rs2148272727
|
|
NM_000489.6(ATRX):c.513C>T (p.Cys171=)
|
rs1441486930
|
|
NM_000489.6(ATRX):c.5167A>G (p.Ile1723Val)
|
|
|
NM_000489.6(ATRX):c.5170C>T (p.Leu1724=)
|
|
|
NM_000489.6(ATRX):c.5220A>T (p.Ser1740=)
|
|
|
NM_000489.6(ATRX):c.5229G>A (p.Arg1743=)
|
|
|
NM_000489.6(ATRX):c.5232T>A (p.Ile1744=)
|
|
|
NM_000489.6(ATRX):c.5247A>G (p.Thr1749=)
|
rs1602887104
|
|
NM_000489.6(ATRX):c.5256A>G (p.Gln1752=)
|
rs2148269320
|
|
NM_000489.6(ATRX):c.5262C>T (p.Asn1754=)
|
|
|
NM_000489.6(ATRX):c.5272+11A>G
|
|
|
NM_000489.6(ATRX):c.5272+13C>A
|
|
|
NM_000489.6(ATRX):c.5272+15C>G
|
rs2148268659
|
|
NM_000489.6(ATRX):c.5272+19T>G
|
|
|
NM_000489.6(ATRX):c.5272+7_5272+12del
|
|
|
NM_000489.6(ATRX):c.5272+9del
|
rs2148268759
|
|
NM_000489.6(ATRX):c.5273-19A>T
|
|
|
NM_000489.6(ATRX):c.5273-4T>G
|
|
|
NM_000489.6(ATRX):c.5274T>C (p.Tyr1758=)
|
rs2148261058
|
|
NM_000489.6(ATRX):c.5277T>C (p.His1759=)
|
rs2148261027
|
|
NM_000489.6(ATRX):c.5289T>C (p.Asn1763=)
|
|
|
NM_000489.6(ATRX):c.5325G>A (p.Glu1775=)
|
|
|
NM_000489.6(ATRX):c.5331G>A (p.Arg1777=)
|
rs2148259996
|
|
NM_000489.6(ATRX):c.5370A>G (p.Ala1790=)
|
|
|
NM_000489.6(ATRX):c.5385A>G (p.Val1795=)
|
|
|
NM_000489.6(ATRX):c.5388T>C (p.Asp1796=)
|
|
|
NM_000489.6(ATRX):c.5436T>C (p.Ala1812=)
|
|
|
NM_000489.6(ATRX):c.5442T>C (p.Cys1814=)
|
|
|
NM_000489.6(ATRX):c.5448+10T>C
|
rs781958851
|
|
NM_000489.6(ATRX):c.5448+11G>T
|
|
|
NM_000489.6(ATRX):c.5448+12T>C
|
|
|
NM_000489.6(ATRX):c.5448+15C>G
|
|
|
NM_000489.6(ATRX):c.5448+15C>T
|
|
|
NM_000489.6(ATRX):c.5448+18A>G
|
|
|
NM_000489.6(ATRX):c.5448+18del
|
|
|
NM_000489.6(ATRX):c.5449-18_5449-17del
|
rs1487877116
|
|
NM_000489.6(ATRX):c.5449-4A>G
|
|
|
NM_000489.6(ATRX):c.5449-9T>A
|
rs2148245921
|
|
NM_000489.6(ATRX):c.5454A>G (p.Lys1818=)
|
|
|
NM_000489.6(ATRX):c.5463A>T (p.Thr1821=)
|
rs2148245476
|
|
NM_000489.6(ATRX):c.5520T>C (p.Thr1840=)
|
rs2148243976
|
|
NM_000489.6(ATRX):c.5529G>A (p.Gln1843=)
|
rs2067369678
|
|
NM_000489.6(ATRX):c.5544G>A (p.Gln1848=)
|
|
|
NM_000489.6(ATRX):c.5551T>C (p.Leu1851=)
|
rs2067368640
|
|
NM_000489.6(ATRX):c.5557C>T (p.His1853Tyr)
|
|
|
NM_000489.6(ATRX):c.555C>T (p.Ser185=)
|
rs2148656586
|
|
NM_000489.6(ATRX):c.5566+11C>T
|
|
|
NM_000489.6(ATRX):c.5566+12A>C
|
|
|
NM_000489.6(ATRX):c.5566+5A>C
|
rs782212670
|
|
NM_000489.6(ATRX):c.5567-11C>G
|
|
|
NM_000489.6(ATRX):c.5567-8T>G
|
|
|
NM_000489.6(ATRX):c.5574C>A (p.Gly1858=)
|
rs1253799370
|
|
NM_000489.6(ATRX):c.5577T>C (p.Asn1859=)
|
rs1602739035
|
|
NM_000489.6(ATRX):c.564A>G (p.Arg188=)
|
|
|
NM_000489.6(ATRX):c.5673A>G (p.Leu1891=)
|
rs1602738889
|
|
NM_000489.6(ATRX):c.567C>T (p.His189=)
|
rs1603233545
|
|
NM_000489.6(ATRX):c.5697+11T>A
|
|
|
NM_000489.6(ATRX):c.5697+19T>C
|
|
|
NM_000489.6(ATRX):c.5697+9G>A
|
rs781963603
|
|
NM_000489.6(ATRX):c.5698-17C>T
|
|
|
NM_000489.6(ATRX):c.5698-19G>C
|
|
|
NM_000489.6(ATRX):c.5703T>C (p.Tyr1901=)
|
|
|
NM_000489.6(ATRX):c.5727A>G (p.Glu1909=)
|
rs2148149729
|
|
NM_000489.6(ATRX):c.573A>T (p.Ser191=)
|
|
|
NM_000489.6(ATRX):c.5742T>C (p.Asp1914=)
|
|
|
NM_000489.6(ATRX):c.574T>C (p.Leu192=)
|
rs2071726776
|
|
NM_000489.6(ATRX):c.5772C>T (p.Ser1924=)
|
rs2148148385
|
|
NM_000489.6(ATRX):c.5786+10A>G
|
rs2066603614
|
|
NM_000489.6(ATRX):c.5786+16T>G
|
|
|
NM_000489.6(ATRX):c.5786+7C>G
|
|
|
NM_000489.6(ATRX):c.5787-13T>C
|
|
|
NM_000489.6(ATRX):c.5787-20G>A
|
rs185359850
|
|
NM_000489.6(ATRX):c.5787-20_5787-18del
|
|
|
NM_000489.6(ATRX):c.5787-24GTTT[3]
|
rs782072699
|
|
NM_000489.6(ATRX):c.5787-24GTTT[4]
|
rs782072699
|
|
NM_000489.6(ATRX):c.5787-6T>C
|
|
|
NM_000489.6(ATRX):c.5800G>A (p.Gly1934Arg)
|
|
|
NM_000489.6(ATRX):c.5806A>C (p.Lys1936Gln)
|
|
|
NM_000489.6(ATRX):c.5814A>G (p.Lys1938=)
|
rs2148144893
|
|
NM_000489.6(ATRX):c.5820T>C (p.Asp1940=)
|
rs2148144698
|
|
NM_000489.6(ATRX):c.5820TAG[1] (p.Ser1944del)
|
rs781914158
|
|
NM_000489.6(ATRX):c.5841C>T (p.Gly1947=)
|
|
|
NM_000489.6(ATRX):c.5844T>C (p.Ser1948=)
|
rs2148143774
|
|
NM_000489.6(ATRX):c.5853T>C (p.Asp1951=)
|
rs2148143490
|
|
NM_000489.6(ATRX):c.5871C>G (p.Val1957=)
|
rs2148142967
|
|
NM_000489.6(ATRX):c.5886T>C (p.Ser1962=)
|
rs2148142450
|
|
NM_000489.6(ATRX):c.5895T>C (p.Gly1965=)
|
|
|
NM_000489.6(ATRX):c.5906A>T (p.Asn1969Ile)
|
|
|
NM_000489.6(ATRX):c.5921G>A (p.Gly1974Glu)
|
|
|
NM_000489.6(ATRX):c.5921G>C (p.Gly1974Ala)
|
|
|
NM_000489.6(ATRX):c.594+13C>T
|
|
|
NM_000489.6(ATRX):c.594+19A>T
|
|
|
NM_000489.6(ATRX):c.594+9del
|
|
|
NM_000489.6(ATRX):c.595-10C>T
|
rs1368443603
|
|
NM_000489.6(ATRX):c.595-17del
|
|
|
NM_000489.6(ATRX):c.5956+18T>C
|
|
|
NM_000489.6(ATRX):c.5956+20C>T
|
|
|
NM_000489.6(ATRX):c.5957-10T>C
|
|
|
NM_000489.6(ATRX):c.5957-7T>G
|
|
|
NM_000489.6(ATRX):c.5957-9C>T
|
rs375791318
|
|
NM_000489.6(ATRX):c.5958T>C (p.Ser1986=)
|
rs2148116529
|
|
NM_000489.6(ATRX):c.5C>G (p.Thr2Ser)
|
|
|
NM_000489.6(ATRX):c.6000C>T (p.Asp2000=)
|
|
|
NM_000489.6(ATRX):c.6021A>G (p.Thr2007=)
|
|
|
NM_000489.6(ATRX):c.6054G>C (p.Gly2018=)
|
|
|
NM_000489.6(ATRX):c.606G>A (p.Lys202=)
|
|
|
NM_000489.6(ATRX):c.6099T>C (p.Ile2033=)
|
|
|
NM_000489.6(ATRX):c.60C>T (p.Asp20=)
|
|
|
NM_000489.6(ATRX):c.6110+13C>T
|
|
|
NM_000489.6(ATRX):c.6111-17C>G
|
|
|
NM_000489.6(ATRX):c.6111-17C>T
|
|
|
NM_000489.6(ATRX):c.6111-18A>G
|
rs2066173398
|
|
NM_000489.6(ATRX):c.6111-8T>A
|
|
|
NM_000489.6(ATRX):c.6129C>T (p.Ser2043=)
|
rs2066172590
|
|
NM_000489.6(ATRX):c.6145T>C (p.Leu2049=)
|
rs2148090116
|
|
NM_000489.6(ATRX):c.6153A>G (p.Glu2051=)
|
rs2148089867
|
|
NM_000489.6(ATRX):c.6183G>A (p.Lys2061=)
|
|
|
NM_000489.6(ATRX):c.6186A>G (p.Thr2062=)
|
|
|
NM_000489.6(ATRX):c.6198T>C (p.Asp2066=)
|
|
|
NM_000489.6(ATRX):c.6217+11A>C
|
rs2148088106
|
|
NM_000489.6(ATRX):c.6217+12A>T
|
|
|
NM_000489.6(ATRX):c.6217+14A>G
|
|
|
NM_000489.6(ATRX):c.6217+15T>C
|
|
|
NM_000489.6(ATRX):c.6217+16T>G
|
|
|
NM_000489.6(ATRX):c.6217+18C>G
|
|
|
NM_000489.6(ATRX):c.6218-14T>C
|
|
|
NM_000489.6(ATRX):c.6218-14T>G
|
|
|
NM_000489.6(ATRX):c.6218-15T>C
|
|
|
NM_000489.6(ATRX):c.6218-17T>C
|
|
|
NM_000489.6(ATRX):c.6218-18C>G
|
|
|
NM_000489.6(ATRX):c.621T>C (p.Asp207=)
|
|
|
NM_000489.6(ATRX):c.6243T>A (p.Ile2081=)
|
rs2148019980
|
|
NM_000489.6(ATRX):c.6267C>T (p.Ser2089=)
|
rs2148019844
|
|
NM_000489.6(ATRX):c.6276A>C (p.Ala2092=)
|
rs2148019717
|
|
NM_000489.6(ATRX):c.6326+12T>G
|
|
|
NM_000489.6(ATRX):c.6326+19A>G
|
rs2065526358
|
|
NM_000489.6(ATRX):c.6327-16A>T
|
|
|
NM_000489.6(ATRX):c.6327-4T>C
|
|
|
NM_000489.6(ATRX):c.6327-9C>T
|
|
|
NM_000489.6(ATRX):c.6360A>T (p.Gly2120=)
|
|
|
NM_000489.6(ATRX):c.6369A>T (p.Gly2123=)
|
|
|
NM_000489.6(ATRX):c.6376C>T (p.Leu2126=)
|
rs2147949539
|
|
NM_000489.6(ATRX):c.6399T>C (p.Ile2133=)
|
|
|
NM_000489.6(ATRX):c.63C>T (p.Phe21=)
|
|
|
NM_000489.6(ATRX):c.6408C>T (p.Asp2136=)
|
|
|
NM_000489.6(ATRX):c.6411T>G (p.Ala2137=)
|
|
|
NM_000489.6(ATRX):c.6444A>T (p.Ile2148=)
|
|
|
NM_000489.6(ATRX):c.6483T>C (p.Tyr2161=)
|
rs959260382
|
|
NM_000489.6(ATRX):c.6495C>T (p.Phe2165=)
|
|
|
NM_000489.6(ATRX):c.6496T>C (p.Leu2166=)
|
rs2147946693
|
|
NM_000489.6(ATRX):c.6504+12A>C
|
|
|
NM_000489.6(ATRX):c.6504+12A>G
|
|
|
NM_000489.6(ATRX):c.6504+12A>T
|
rs1434581448
|
|
NM_000489.6(ATRX):c.6504+15C>G
|
rs2147946241
|
|
NM_000489.6(ATRX):c.6504+18T>C
|
|
|
NM_000489.6(ATRX):c.6505-10T>G
|
|
|
NM_000489.6(ATRX):c.6505-11T>G
|
rs2147942234
|
|
NM_000489.6(ATRX):c.6505-12_6505-10del
|
|
|
NM_000489.6(ATRX):c.6505-14T>A
|
|
|
NM_000489.6(ATRX):c.6505-15C>T
|
|
|
NM_000489.6(ATRX):c.6505-19C>T
|
|
|
NM_000489.6(ATRX):c.6528T>C (p.Tyr2176=)
|
rs2147942097
|
|
NM_000489.6(ATRX):c.6534G>T (p.Arg2178=)
|
rs782771702
|
|
NM_000489.6(ATRX):c.6552A>G (p.Ser2184=)
|
rs2064851277
|
|
NM_000489.6(ATRX):c.6555G>C (p.Leu2185=)
|
rs781823496
|
|
NM_000489.6(ATRX):c.6576G>A (p.Gln2192=)
|
|
|
NM_000489.6(ATRX):c.6609G>A (p.Glu2203=)
|
rs1602531500
|
|
NM_000489.6(ATRX):c.6618A>G (p.Glu2206=)
|
rs2064850147
|
|
NM_000489.6(ATRX):c.662+12A>G
|
|
|
NM_000489.6(ATRX):c.662+16G>A
|
|
|
NM_000489.6(ATRX):c.662+18G>A
|
rs2071469895
|
|
NM_000489.6(ATRX):c.662+7A>C
|
rs2148642230
|
|
NM_000489.6(ATRX):c.6621T>C (p.Leu2207=)
|
|
|
NM_000489.6(ATRX):c.663-16C>A
|
rs781981978
|
|
NM_000489.6(ATRX):c.663-18dup
|
|
|
NM_000489.6(ATRX):c.6645A>G (p.Leu2215=)
|
|
|
NM_000489.6(ATRX):c.6648T>C (p.Asp2216=)
|
|
|
NM_000489.6(ATRX):c.6672G>A (p.Lys2224=)
|
rs2147941252
|
|
NM_000489.6(ATRX):c.6696A>C (p.Pro2232=)
|
|
|
NM_000489.6(ATRX):c.6699+10T>C
|
rs1602531185
|
|
NM_000489.6(ATRX):c.6699+11_6699+12del
|
|
|
NM_000489.6(ATRX):c.6699+13A>G
|
|
|
NM_000489.6(ATRX):c.6699+7A>T
|
|
|
NM_000489.6(ATRX):c.6699+8T>C
|
|
|
NM_000489.6(ATRX):c.669T>C (p.Cys223=)
|
rs2148640448
|
|
NM_000489.6(ATRX):c.6714A>G (p.Ala2238=)
|
|
|
NM_000489.6(ATRX):c.6717G>A (p.Glu2239=)
|
|
|
NM_000489.6(ATRX):c.6747A>G (p.Val2249=)
|
rs2147761604
|
|
NM_000489.6(ATRX):c.6750A>T (p.Gly2250=)
|
|
|
NM_000489.6(ATRX):c.6753C>T (p.Tyr2251=)
|
rs797044495
|
|
NM_000489.6(ATRX):c.6786A>G (p.Glu2262=)
|
rs2147760587
|
|
NM_000489.6(ATRX):c.678T>G (p.Gly226=)
|
|
|
NM_000489.6(ATRX):c.6811A>C (p.Arg2271=)
|
rs122445112
|
|
NM_000489.6(ATRX):c.6819A>G (p.Ala2273=)
|
|
|
NM_000489.6(ATRX):c.6840A>C (p.Ala2280=)
|
|
|
NM_000489.6(ATRX):c.6849+10G>A
|
rs2147758557
|
|
NM_000489.6(ATRX):c.6849+13A>G
|
|
|
NM_000489.6(ATRX):c.6849+20T>A
|
|
|
NM_000489.6(ATRX):c.6849+20T>C
|
|
|
NM_000489.6(ATRX):c.6849+7G>T
|
|
|
NM_000489.6(ATRX):c.6850-16A>C
|
|
|
NM_000489.6(ATRX):c.6850-16A>T
|
rs556807330
|
|
NM_000489.6(ATRX):c.6850-8G>T
|
|
|
NM_000489.6(ATRX):c.6853C>T (p.Leu2285=)
|
|
|
NM_000489.6(ATRX):c.6859A>G (p.Met2287Val)
|
|
|
NM_000489.6(ATRX):c.6889T>C (p.Leu2297=)
|
|
|
NM_000489.6(ATRX):c.6894C>A (p.Pro2298=)
|
|
|
NM_000489.6(ATRX):c.6894C>T (p.Pro2298=)
|
|
|
NM_000489.6(ATRX):c.6897T>C (p.Pro2299=)
|
rs2147750199
|
|
NM_000489.6(ATRX):c.6903T>C (p.Ser2301=)
|
rs2147749952
|
|
NM_000489.6(ATRX):c.6915A>G (p.Gln2305=)
|
|
|
NM_000489.6(ATRX):c.6935A>G (p.Asn2312Ser)
|
|
|
NM_000489.6(ATRX):c.693T>C (p.Cys231=)
|
|
|
NM_000489.6(ATRX):c.6948G>A (p.Leu2316=)
|
|
|
NM_000489.6(ATRX):c.6960T>C (p.Ser2320=)
|
rs2147748110
|
|
NM_000489.6(ATRX):c.6972G>A (p.Leu2324=)
|
rs2147747758
|
|
NM_000489.6(ATRX):c.6975+12A>C
|
|
|
NM_000489.6(ATRX):c.6975+12A>G
|
|
|
NM_000489.6(ATRX):c.6975+14T>C
|
rs1293525623
|
|
NM_000489.6(ATRX):c.6975+14T>G
|
|
|
NM_000489.6(ATRX):c.6975+17A>G
|
|
|
NM_000489.6(ATRX):c.6975+7T>C
|
|
|
NM_000489.6(ATRX):c.6976-12G>T
|
|
|
NM_000489.6(ATRX):c.6976-14T>G
|
|
|
NM_000489.6(ATRX):c.6976-4C>A
|
|
|
NM_000489.6(ATRX):c.6976-7C>T
|
rs2147742028
|
|
NM_000489.6(ATRX):c.6976-9T>C
|
rs2147742055
|
|
NM_000489.6(ATRX):c.69A>T (p.Ala23=)
|
rs2148752498
|
|
NM_000489.6(ATRX):c.6C>G (p.Thr2=)
|
|
|
NM_000489.6(ATRX):c.7023T>C (p.Ser2341=)
|
rs2063229451
|
|
NM_000489.6(ATRX):c.7029A>G (p.Thr2343=)
|
rs1557041353
|
|
NM_000489.6(ATRX):c.7036A>C (p.Arg2346=)
|
rs2147741524
|
|
NM_000489.6(ATRX):c.7071+10T>C
|
|
|
NM_000489.6(ATRX):c.7071+12G>A
|
|
|
NM_000489.6(ATRX):c.7071+16A>T
|
|
|
NM_000489.6(ATRX):c.7071+19G>A
|
|
|
NM_000489.6(ATRX):c.7071+7T>G
|
rs2147741257
|
|
NM_000489.6(ATRX):c.7072-4T>G
|
|
|
NM_000489.6(ATRX):c.7072-7C>A
|
|
|
NM_000489.6(ATRX):c.7072-9T>C
|
|
|
NM_000489.6(ATRX):c.7119A>G (p.Ala2373=)
|
|
|
NM_000489.6(ATRX):c.711T>C (p.Asn237=)
|
rs782710787
|
|
NM_000489.6(ATRX):c.7143G>A (p.Glu2381=)
|
rs2147737610
|
|
NM_000489.6(ATRX):c.7158A>G (p.Arg2386=)
|
rs1557041056
|
|
NM_000489.6(ATRX):c.7188A>G (p.Thr2396=)
|
|
|
NM_000489.6(ATRX):c.7191A>G (p.Lys2397=)
|
|
|
NM_000489.6(ATRX):c.7200+10C>A
|
rs781824017
|
|
NM_000489.6(ATRX):c.7200+14C>T
|
|
|
NM_000489.6(ATRX):c.7200+19_7200+22del
|
rs782698877
|
|
NM_000489.6(ATRX):c.7200+9del
|
rs781816667
|
|
NM_000489.6(ATRX):c.7201-14dup
|
rs782152710
|
|
NM_000489.6(ATRX):c.7201-4A>T
|
rs782317502
|
|
NM_000489.6(ATRX):c.7201-8C>A
|
rs2062764325
|
|
NM_000489.6(ATRX):c.7201-9T>C
|
|
|
NM_000489.6(ATRX):c.7218G>A (p.Gln2406=)
|
|
|
NM_000489.6(ATRX):c.7242C>T (p.Leu2414=)
|
rs782246110
|
|
NM_000489.6(ATRX):c.7248G>A (p.Gln2416=)
|
|
|
NM_000489.6(ATRX):c.7266A>G (p.Gln2422=)
|
rs2147651510
|
|
NM_000489.6(ATRX):c.7284T>C (p.Tyr2428=)
|
rs2147650995
|
|
NM_000489.6(ATRX):c.7297C>T (p.Leu2433=)
|
rs2147650711
|
|
NM_000489.6(ATRX):c.72C>T (p.His24=)
|
rs2148752454
|
|
NM_000489.6(ATRX):c.7332G>A (p.Leu2444=)
|
rs2147649397
|
|
NM_000489.6(ATRX):c.733C>T (p.Leu245=)
|
rs2071444982
|
|
NM_000489.6(ATRX):c.7344T>G (p.Pro2448=)
|
|
|
NM_000489.6(ATRX):c.7347T>G (p.Ser2449=)
|
rs2147648859
|
|
NM_000489.6(ATRX):c.7350C>T (p.Asn2450=)
|
rs2147648778
|
|
NM_000489.6(ATRX):c.7356G>A (p.Gln2452=)
|
rs2147648510
|
|
NM_000489.6(ATRX):c.735A>G (p.Leu245=)
|
|
|
NM_000489.6(ATRX):c.7384C>A (p.Pro2462Thr)
|
|
|
NM_000489.6(ATRX):c.7400T>C (p.Met2467Thr)
|
rs782631992
|
|
NM_000489.6(ATRX):c.7413A>G (p.Pro2471=)
|
|
|
NM_000489.6(ATRX):c.7422T>C (p.Arg2474=)
|
|
|
NM_000489.6(ATRX):c.7425A>G (p.Ala2475=)
|
rs1044007508
|
|
NM_000489.6(ATRX):c.7431C>T (p.Pro2477=)
|
|
|
NM_000489.6(ATRX):c.7454G>A (p.Gly2485Glu)
|
|
|
NM_000489.6(ATRX):c.756G>A (p.Glu252=)
|
|
|
NM_000489.6(ATRX):c.75A>G (p.Ser25=)
|
rs2148752439
|
|
NM_000489.6(ATRX):c.765A>G (p.Thr255=)
|
|
|
NM_000489.6(ATRX):c.813G>A (p.Glu271=)
|
rs1557142741
|
|
NM_000489.6(ATRX):c.813G>T (p.Glu271Asp)
|
|
|
NM_000489.6(ATRX):c.855G>A (p.Glu285=)
|
|
|
NM_000489.6(ATRX):c.861A>G (p.Leu287=)
|
|
|
NM_000489.6(ATRX):c.924A>G (p.Val308=)
|
|
|
NM_000489.6(ATRX):c.924A>T (p.Val308=)
|
|
|
NM_000489.6(ATRX):c.938C>G (p.Ser313Cys)
|
|
|
NM_000489.6(ATRX):c.942A>G (p.Arg314=)
|
rs2148634095
|
|
NM_000489.6(ATRX):c.951A>G (p.Pro317=)
|
|
|
NM_000489.6(ATRX):c.959C>G (p.Thr320Ser)
|
|
|
NM_000489.6(ATRX):c.968A>G (p.Asn323Ser)
|
rs1448356954
|
|
NM_000489.6(ATRX):c.969T>C (p.Asn323=)
|
rs1603226355
|
|
NM_000489.6(ATRX):c.975T>C (p.Asn325=)
|
|
|
NM_000489.6(ATRX):c.978A>T (p.Gly326=)
|
|
|
NM_000489.6(ATRX):c.987G>A (p.Lys329=)
|
rs2148633084
|
|
NM_000489.6(ATRX):c.999T>C (p.Asp333=)
|
rs2071429803
|
|