ClinVar Miner

List of variants in gene ATRX studied for syndromic intellectual disability

Included ClinVar conditions (203):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 2101
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HGVS dbSNP gnomAD frequency
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.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.6405C>T (p.Phe2135=) rs148659669 0.00023
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.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.6036G>A (p.Glu2012=) rs376679217 0.00013
NM_000489.6(ATRX):c.4317+13T>C rs201710363 0.00012
NM_000489.6(ATRX):c.546A>G (p.Gln182=) rs375794120 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.2968G>A (p.Glu990Lys) rs376883807 0.00011
NM_000489.6(ATRX):c.6869A>G (p.Asn2290Ser) rs368498507 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.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.1606A>G (p.Met536Val) rs781865069 0.00009
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.3559A>G (p.Asn1187Asp) rs782146598 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.1868A>G (p.Lys623Arg) rs145678415 0.00008
NM_000489.6(ATRX):c.2530A>G (p.Thr844Ala) rs142601264 0.00008
NM_000489.6(ATRX):c.4810-3T>C rs370596323 0.00008
NM_000489.6(ATRX):c.5221A>C (p.Arg1741=) rs782633224 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.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.189G>A (p.Glu63=) rs587778082 0.00006
NM_000489.6(ATRX):c.2000C>T (p.Pro667Leu) rs61752457 0.00006
NM_000489.6(ATRX):c.2105A>G (p.Asn702Ser) rs782409603 0.00006
NM_000489.6(ATRX):c.2312C>T (p.Ala771Val) rs376906761 0.00006
NM_000489.6(ATRX):c.2313G>A (p.Ala771=) rs373458498 0.00006
NM_000489.6(ATRX):c.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.3513A>T (p.Arg1171Ser) rs868995055 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.4859G>A (p.Ser1620Asn) rs781875880 0.00006
NM_000489.6(ATRX):c.5001C>T (p.Tyr1667=) rs202114901 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.118A>G (p.Met40Val) rs149990714 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.3794A>G (p.Asn1265Ser) rs371187842 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.7201-4A>G rs782317502 0.00005
NM_000489.6(ATRX):c.7432C>G (p.Pro2478Ala) rs199543136 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.1625T>C (p.Val542Ala) rs782158232 0.00004
NM_000489.6(ATRX):c.1679C>G (p.Ser560Cys) rs782446684 0.00004
NM_000489.6(ATRX):c.1804G>A (p.Gly602Ser) rs886044864 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.2484G>C (p.Met828Ile) rs782705007 0.00004
NM_000489.6(ATRX):c.2527A>T (p.Asn843Tyr) rs782018257 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.2880C>T (p.Gly960=) rs782796279 0.00004
NM_000489.6(ATRX):c.2922C>T (p.Ser974=) rs1476227727 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.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.3801T>C (p.Pro1267=) rs149717199 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.4215-20_4215-18del rs1188376416 0.00004
NM_000489.6(ATRX):c.4542A>G (p.Arg1514=) rs372133964 0.00004
NM_000489.6(ATRX):c.4557+15T>C rs782672265 0.00004
NM_000489.6(ATRX):c.501G>A (p.Gly167=) rs139919697 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.6505-8T>C rs782548527 0.00004
NM_000489.6(ATRX):c.6640T>G (p.Leu2214Val) rs782396522 0.00004
NM_000489.6(ATRX):c.7254C>T (p.Tyr2418=) rs782527659 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.1480A>G (p.Lys494Glu) rs1394070657 0.00003
NM_000489.6(ATRX):c.1880G>A (p.Cys627Tyr) rs370584074 0.00003
NM_000489.6(ATRX):c.2001G>A (p.Pro667=) rs139997330 0.00003
NM_000489.6(ATRX):c.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.2623T>C (p.Ser875Pro) rs370074271 0.00003
NM_000489.6(ATRX):c.2696C>T (p.Thr899Met) rs782757975 0.00003
NM_000489.6(ATRX):c.2730G>C (p.Lys910Asn) rs1206627354 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.3224A>G (p.Asp1075Gly) rs1064796745 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.3888A>G (p.Pro1296=) rs139540415 0.00003
NM_000489.6(ATRX):c.3943+8C>T rs1557125060 0.00003
NM_000489.6(ATRX):c.4207A>G (p.Arg1403Gly) rs782464685 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.4366G>A (p.Glu1456Lys) rs782646619 0.00003
NM_000489.6(ATRX):c.4392A>G (p.Glu1464=) rs782637572 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.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.5786+20G>A rs782150691 0.00003
NM_000489.6(ATRX):c.5809G>A (p.Gly1937Arg) rs782222942 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.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.7011A>G (p.Glu2337=) rs782078102 0.00003
NM_000489.6(ATRX):c.7113G>A (p.Ala2371=) rs782703242 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.114T>G (p.Leu38=) rs201353033 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.1441G>C (p.Glu481Gln) rs782128777 0.00002
NM_000489.6(ATRX):c.1446A>C (p.Glu482Asp) rs886044778 0.00002
NM_000489.6(ATRX):c.1468G>A (p.Gly490Ser) rs1378005125 0.00002
NM_000489.6(ATRX):c.1474G>A (p.Glu492Lys) rs1418531949 0.00002
NM_000489.6(ATRX):c.1529C>G (p.Ser510Cys) rs782395967 0.00002
NM_000489.6(ATRX):c.1561C>G (p.Pro521Ala) rs782314240 0.00002
NM_000489.6(ATRX):c.1666G>A (p.Val556Met) rs782001042 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.2087G>C (p.Arg696Thr) rs781967738 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.2174T>C (p.Val725Ala) rs960922907 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.2524C>T (p.Pro842Ser) rs782196312 0.00002
NM_000489.6(ATRX):c.2658G>C (p.Glu886Asp) rs141180098 0.00002
NM_000489.6(ATRX):c.2728A>G (p.Lys910Glu) rs782016225 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.3328T>C (p.Ser1110Pro) rs782698480 0.00002
NM_000489.6(ATRX):c.3387G>A (p.Leu1129=) rs3761507 0.00002
NM_000489.6(ATRX):c.3459A>G (p.Ser1153=) rs782427169 0.00002
NM_000489.6(ATRX):c.3477G>C (p.Glu1159Asp) rs915523218 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.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.39A>C (p.Thr13=) rs1244422748 0.00002
NM_000489.6(ATRX):c.4070A>G (p.Lys1357Arg) rs1064796812 0.00002
NM_000489.6(ATRX):c.4096G>A (p.Val1366Ile) rs1280555560 0.00002
NM_000489.6(ATRX):c.4329G>A (p.Glu1443=) rs782044671 0.00002
NM_000489.6(ATRX):c.4338G>A (p.Glu1446=) rs1211312426 0.00002
NM_000489.6(ATRX):c.4699+9C>T rs782140505 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.4866G>A (p.Ala1622=) rs145036475 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.5184A>G (p.Ala1728=) rs782211965 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.5493C>T (p.His1831=) rs782508028 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.6327-18C>T rs372246179 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.6924T>C (p.Tyr2308=) rs139457986 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.7183T>C (p.Leu2395=) rs782490070 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.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.1042G>T (p.Val348Leu) rs1557142408 0.00001
NM_000489.6(ATRX):c.1110T>C (p.Tyr370=) rs371831155 0.00001
NM_000489.6(ATRX):c.1111G>C (p.Val371Leu) rs782128117 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.1202A>G (p.Asp401Gly) rs2071414010 0.00001
NM_000489.6(ATRX):c.1206T>A (p.Ile402=) rs782635950 0.00001
NM_000489.6(ATRX):c.1236C>A (p.Asp412Glu) rs951634317 0.00001
NM_000489.6(ATRX):c.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.1439C>T (p.Thr480Ile) rs782751824 0.00001
NM_000489.6(ATRX):c.1449A>G (p.Gln483=) rs1472962089 0.00001
NM_000489.6(ATRX):c.1477C>T (p.His493Tyr) rs1041529012 0.00001
NM_000489.6(ATRX):c.1492A>G (p.Arg498Gly) rs781942266 0.00001
NM_000489.6(ATRX):c.1526C>G (p.Thr509Ser) rs1557141410 0.00001
NM_000489.6(ATRX):c.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.1709A>G (p.Asn570Ser) rs782517450 0.00001
NM_000489.6(ATRX):c.1717G>T (p.Gly573Cys) rs782746892 0.00001
NM_000489.6(ATRX):c.1733C>G (p.Thr578Ser) rs782715901 0.00001
NM_000489.6(ATRX):c.1755A>G (p.Glu585=) rs2071369876 0.00001
NM_000489.6(ATRX):c.1766A>C (p.Lys589Thr) rs1557140828 0.00001
NM_000489.6(ATRX):c.177C>T (p.Asn59=) rs782250182 0.00001
NM_000489.6(ATRX):c.1808C>T (p.Ala603Val) rs1557140749 0.00001
NM_000489.6(ATRX):c.1814G>A (p.Cys605Tyr) rs1205903424 0.00001
NM_000489.6(ATRX):c.1885C>G (p.Leu629Val) rs1198114357 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.2057A>G (p.Lys686Arg) rs1557140371 0.00001
NM_000489.6(ATRX):c.2064A>G (p.Lys688=) rs781991929 0.00001
NM_000489.6(ATRX):c.2066A>G (p.Gln689Arg) rs929951326 0.00001
NM_000489.6(ATRX):c.2083G>C (p.Val695Leu) rs571313578 0.00001
NM_000489.6(ATRX):c.2102G>A (p.Arg701His) rs797044563 0.00001
NM_000489.6(ATRX):c.2116A>T (p.Ser706Cys) rs918710917 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.224G>T (p.Gly75Val) rs782198677 0.00001
NM_000489.6(ATRX):c.2292G>C (p.Leu764Phe) rs1557139933 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.2389T>C (p.Ser797Pro) rs782418110 0.00001
NM_000489.6(ATRX):c.2409T>G (p.Ile803Met) rs782348869 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.2480G>A (p.Ser827Asn) rs897147546 0.00001
NM_000489.6(ATRX):c.2494G>A (p.Gly832Ser) rs1557139497 0.00001
NM_000489.6(ATRX):c.2499T>C (p.Ala833=) rs781983620 0.00001
NM_000489.6(ATRX):c.2513A>G (p.Lys838Arg) rs587778085 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.2597A>C (p.Lys866Thr) rs782057275 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.2656G>C (p.Glu886Gln) rs782374254 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.2695A>G (p.Thr899Ala) rs2071278709 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.2761G>T (p.Val921Phe) rs587778088 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.2794A>G (p.Thr932Ala) rs1557138839 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.2875G>T (p.Asp959Tyr) rs1057523431 0.00001
NM_000489.6(ATRX):c.2890A>G (p.Ile964Val) rs1271635013 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.3103A>G (p.Ile1035Val) rs781916347 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.3287T>G (p.Leu1096Trp) rs1337990307 0.00001
NM_000489.6(ATRX):c.3306G>A (p.Arg1102=) rs782279780 0.00001
NM_000489.6(ATRX):c.3314A>G (p.Gln1105Arg) rs1569538747 0.00001
NM_000489.6(ATRX):c.3320G>A (p.Cys1107Tyr) rs2071226540 0.00001
NM_000489.6(ATRX):c.3373T>C (p.Ser1125Pro) rs1557137528 0.00001
NM_000489.6(ATRX):c.3395T>C (p.Ile1132Thr) rs587780285 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.3455G>T (p.Gly1152Val) rs782023982 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.3538A>G (p.Ile1180Val) rs782554626 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.3655G>A (p.Gly1219Arg) rs1057524797 0.00001
NM_000489.6(ATRX):c.3663C>T (p.Ser1221=) rs1214349616 0.00001
NM_000489.6(ATRX):c.3687G>A (p.Val1229=) rs1051682 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.3884A>G (p.Glu1295Gly) rs987127830 0.00001
NM_000489.6(ATRX):c.3885G>A (p.Glu1295=) rs781858736 0.00001
NM_000489.6(ATRX):c.3905G>A (p.Arg1302Lys) rs1557125110 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.4015A>G (p.Arg1339Gly) rs782438788 0.00001
NM_000489.6(ATRX):c.4025G>A (p.Arg1342Gln) rs782802388 0.00001
NM_000489.6(ATRX):c.4031A>G (p.Lys1344Arg) rs782556767 0.00001
NM_000489.6(ATRX):c.4046A>T (p.Asp1349Val) rs1557124086 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.4177G>C (p.Val1393Leu) rs147331649 0.00001
NM_000489.6(ATRX):c.4201C>T (p.Arg1401Trp) rs1557119999 0.00001
NM_000489.6(ATRX):c.4203G>A (p.Arg1401=) rs1399734659 0.00001
NM_000489.6(ATRX):c.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.4647A>G (p.Leu1549=) rs782303976 0.00001
NM_000489.6(ATRX):c.4767A>T (p.Gly1589=) rs782707742 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.4858A>C (p.Ser1620Arg) rs782115900 0.00001
NM_000489.6(ATRX):c.4862C>T (p.Thr1621Met) rs122445106 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.4905G>T (p.Met1635Ile) rs1045875195 0.00001
NM_000489.6(ATRX):c.4956+3A>G rs1434725771 0.00001
NM_000489.6(ATRX):c.5000A>G (p.Tyr1667Cys) rs1557106489 0.00001
NM_000489.6(ATRX):c.5068G>A (p.Ala1690Thr) rs2068194249 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.5273-19A>G rs1278007263 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.5448+4C>T rs1557098428 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.5566+14C>T rs1003519094 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+5A>G rs782475014 0.00001
NM_000489.6(ATRX):c.5786+8G>A rs371884837 0.00001
NM_000489.6(ATRX):c.5786A>G (p.Lys1929Arg) rs1569528833 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.5965A>G (p.Thr1989Ala) rs1438449392 0.00001
NM_000489.6(ATRX):c.6132C>T (p.Leu2044=) rs1557079262 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.6223G>A (p.Gly2075Arg) rs1440854109 0.00001
NM_000489.6(ATRX):c.6240C>T (p.Asn2080=) rs1557069232 0.00001
NM_000489.6(ATRX):c.6241A>G (p.Ile2081Val) rs1210447127 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.7072-3T>C rs782686541 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.7401G>A (p.Met2467Ile) rs782416494 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.815C>G (p.Pro272Arg) rs782487127 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.917A>G (p.Asn306Ser) rs782367711 0.00001
NM_000489.6(ATRX):c.931C>T (p.His311Tyr) rs2071433222 0.00001
NM_000489.6(ATRX):c.952A>G (p.Lys318Glu) rs2071431960 0.00001
NC_000023.10:g.(76940499_76944310)_(76954118_76972607)del
NC_000023.10:g.(?_76759356)_(77042755_?)del
NC_000023.10:g.(?_76759357)_(77042755_?)dup
NC_000023.10:g.(?_76763809)_(76972740_?)dup
NC_000023.10:g.(?_76763809)_(77041507_?)del
NC_000023.10:g.(?_76763809)_(77041507_?)dup
NC_000023.10:g.(?_76763829)_(76776414_?)del
NC_000023.10:g.(?_76763829)_(76972740_?)dup
NC_000023.10:g.(?_76829695)_(77041507_?)dup
NC_000023.10:g.(?_76907584)_(76912163_?)del
NC_000023.10:g.(?_76907608)_(76974315_?)del
NC_000023.10:g.(?_76937002)_(76940508_?)del
NC_000023.10:g.(?_76937002)_(76972730_?)dup
NC_000023.10:g.(?_76944291)_(76972740_?)del
NC_000023.10:g.(?_76953051)_(76954137_?)dup
NC_000023.10:g.(?_77041448)_(77041487_?)del
NC_000023.10:g.(?_77041448)_(77041487_?)dup
NC_000023.10:g.(?_77041448)_(77041507_?)dup
NC_000023.11:g.77654204A>T rs2148451946
NM_000489.6(ATRX):c.1011C>T (p.Gly337=) rs2148632537
NM_000489.6(ATRX):c.1013C>G (p.Ser338Cys)
NM_000489.6(ATRX):c.1017A>G (p.Val339=)
NM_000489.6(ATRX):c.1024T>C (p.Ser342Pro)
NM_000489.6(ATRX):c.1028A>C (p.Tyr343Ser)
NM_000489.6(ATRX):c.1029T>C (p.Tyr343=) rs2148632087
NM_000489.6(ATRX):c.102TCC[1] (p.Pro36del)
NM_000489.6(ATRX):c.1036C>G (p.Leu346Val)
NM_000489.6(ATRX):c.1039A>G (p.Ile347Val) rs2071426013
NM_000489.6(ATRX):c.1043T>C (p.Val348Ala) rs975407914
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.1047C>T (p.Pro349=)
NM_000489.6(ATRX):c.1050A>G (p.Lys350=)
NM_000489.6(ATRX):c.1054A>T (p.Met352Leu)
NM_000489.6(ATRX):c.1057A>G (p.Ile353Val) rs2071424254
NM_000489.6(ATRX):c.105T>A (p.Pro35=)
NM_000489.6(ATRX):c.1068A>G (p.Ala356=) rs2148631255
NM_000489.6(ATRX):c.1075C>G (p.Leu359Val) rs2071423786
NM_000489.6(ATRX):c.1078A>G (p.Ile360Val)
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.1089A>T (p.Thr363=)
NM_000489.6(ATRX):c.108A>G (p.Pro36=) rs782048051
NM_000489.6(ATRX):c.1091C>G (p.Ala364Gly)
NM_000489.6(ATRX):c.1096A>G (p.Met366Val)
NM_000489.6(ATRX):c.109C>T (p.Arg37Ter) rs122445108
NM_000489.6(ATRX):c.1101C>T (p.Asn367=)
NM_000489.6(ATRX):c.1103C>G (p.Ser368Cys)
NM_000489.6(ATRX):c.1104C>T (p.Ser368=) rs2148630427
NM_000489.6(ATRX):c.110G>T (p.Arg37Leu)
NM_000489.6(ATRX):c.1115A>C (p.Lys372Thr)
NM_000489.6(ATRX):c.1116A>G (p.Lys372=)
NM_000489.6(ATRX):c.1146A>G (p.Glu382=)
NM_000489.6(ATRX):c.1147A>G (p.Ile383Val) rs2148629471
NM_000489.6(ATRX):c.1150A>G (p.Ser384Gly)
NM_000489.6(ATRX):c.1151G>C (p.Ser384Thr) rs2071417426
NM_000489.6(ATRX):c.1159A>G (p.Thr387Ala) rs1603225916
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.1164A>G (p.Lys388=)
NM_000489.6(ATRX):c.1169G>C (p.Arg390Pro) rs367986587
NM_000489.6(ATRX):c.1169G>T (p.Arg390Leu)
NM_000489.6(ATRX):c.116C>T (p.Ala39Val)
NM_000489.6(ATRX):c.1173G>A (p.Gln391=)
NM_000489.6(ATRX):c.1174C>T (p.Leu392Phe)
NM_000489.6(ATRX):c.1186A>C (p.Lys396Gln) rs2071415045
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.1212G>C (p.Lys404Asn) rs2071413817
NM_000489.6(ATRX):c.1216C>T (p.His406Tyr) rs2148627971
NM_000489.6(ATRX):c.1218T>C (p.His406=)
NM_000489.6(ATRX):c.1219C>G (p.Leu407Val) rs1557142145
NM_000489.6(ATRX):c.1225T>C (p.Leu409=) rs1569539349
NM_000489.6(ATRX):c.1230A>G (p.Glu410=)
NM_000489.6(ATRX):c.1233A>T (p.Glu411Asp)
NM_000489.6(ATRX):c.1235A>G (p.Asp412Gly)
NM_000489.6(ATRX):c.1236C>G (p.Asp412Glu)
NM_000489.6(ATRX):c.1247A>C (p.Glu416Ala)
NM_000489.6(ATRX):c.1252C>G (p.Arg418Gly) rs1057523785
NM_000489.6(ATRX):c.1252C>T (p.Arg418Ter)
NM_000489.6(ATRX):c.1264G>A (p.Ala422Thr) rs1424850007
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.1279A>C (p.Lys427Gln)
NM_000489.6(ATRX):c.1286C>G (p.Thr429Ser)
NM_000489.6(ATRX):c.1290A>G (p.Lys430=) rs1569539312
NM_000489.6(ATRX):c.1290A>T (p.Lys430Asn)
NM_000489.6(ATRX):c.1297A>G (p.Lys433Glu) rs898727479
NM_000489.6(ATRX):c.1302C>A (p.Val434=)
NM_000489.6(ATRX):c.1302C>T (p.Val434=)
NM_000489.6(ATRX):c.1305A>T (p.Ile435=)
NM_000489.6(ATRX):c.1310C>G (p.Ala437Gly)
NM_000489.6(ATRX):c.1311T>G (p.Ala437=)
NM_000489.6(ATRX):c.1321A>G (p.Thr441Ala)
NM_000489.6(ATRX):c.1322C>G (p.Thr441Arg) rs2148625660
NM_000489.6(ATRX):c.1322_1324del (p.Thr441del) rs1569539303
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.134-4884_242+41del
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.1340A>T (p.Glu447Val) rs2071404188
NM_000489.6(ATRX):c.1348T>C (p.Cys450Arg)
NM_000489.6(ATRX):c.134A>T (p.Asp45Val) rs1557151500
NM_000489.6(ATRX):c.1357G>A (p.Glu453Lys)
NM_000489.6(ATRX):c.1358A>G (p.Glu453Gly)
NM_000489.6(ATRX):c.135T>C (p.Asp45=) rs2148685985
NM_000489.6(ATRX):c.1366G>C (p.Asp456His)
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.1384G>C (p.Ala462Pro) rs201503118
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.1396A>T (p.Arg466Ter)
NM_000489.6(ATRX):c.1402C>G (p.Gln468Glu)
NM_000489.6(ATRX):c.1403A>C (p.Gln468Pro)
NM_000489.6(ATRX):c.1404G>A (p.Gln468=)
NM_000489.6(ATRX):c.140T>C (p.Ile47Thr)
NM_000489.6(ATRX):c.1410T>C (p.Asp470=) rs2071399261
NM_000489.6(ATRX):c.1415A>G (p.Glu472Gly)
NM_000489.6(ATRX):c.1416G>A (p.Glu472=)
NM_000489.6(ATRX):c.1419C>T (p.His473=)
NM_000489.6(ATRX):c.1423C>T (p.His475Tyr) rs146863015
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.1430A>G (p.Asn477Ser)
NM_000489.6(ATRX):c.1432G>A (p.Val478Ile)
NM_000489.6(ATRX):c.1435C>G (p.Pro479Ala)
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.1446A>T (p.Glu482Asp)
NM_000489.6(ATRX):c.1454C>G (p.Thr485Arg)
NM_000489.6(ATRX):c.1456A>G (p.Asn486Asp)
NM_000489.6(ATRX):c.1458T>C (p.Asn486=) rs2148622068
NM_000489.6(ATRX):c.1459A>G (p.Lys487Glu)
NM_000489.6(ATRX):c.1466C>T (p.Thr489Ile)
NM_000489.6(ATRX):c.1469G>T (p.Gly490Val)
NM_000489.6(ATRX):c.1483A>C (p.Lys495Gln)
NM_000489.6(ATRX):c.1487C>G (p.Ser496Cys)
NM_000489.6(ATRX):c.1493G>A (p.Arg498Lys) rs2071391273
NM_000489.6(ATRX):c.1495A>G (p.Lys499Glu)
NM_000489.6(ATRX):c.1496A>G (p.Lys499Arg)
NM_000489.6(ATRX):c.1498G>A (p.Glu500Lys)
NM_000489.6(ATRX):c.1504C>A (p.Pro502Thr)
NM_000489.6(ATRX):c.1509A>G (p.Gln503=) rs1039587651
NM_000489.6(ATRX):c.1509A>T (p.Gln503His) rs1039587651
NM_000489.6(ATRX):c.1514A>G (p.Glu505Gly)
NM_000489.6(ATRX):c.1516C>T (p.Pro506Ser) rs1449091873
NM_000489.6(ATRX):c.1522A>C (p.Asn508His) rs398123421
NM_000489.6(ATRX):c.1525A>C (p.Thr509Pro)
NM_000489.6(ATRX):c.1525A>G (p.Thr509Ala)
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.1556C>G (p.Ser519Cys)
NM_000489.6(ATRX):c.1566C>G (p.Ser522=)
NM_000489.6(ATRX):c.1574C>G (p.Pro525Arg)
NM_000489.6(ATRX):c.1581C>G (p.Asp527Glu)
NM_000489.6(ATRX):c.1581C>T (p.Asp527=) rs782673700
NM_000489.6(ATRX):c.158del (p.Asn53fs) rs2148685852
NM_000489.6(ATRX):c.1596T>G (p.Leu532=)
NM_000489.6(ATRX):c.1598A>T (p.Glu533Val)
NM_000489.6(ATRX):c.160T>A (p.Ser54Thr) rs2072320573
NM_000489.6(ATRX):c.1610A>G (p.Glu537Gly)
NM_000489.6(ATRX):c.161_162del (p.Asn53_Ser54insTer)
NM_000489.6(ATRX):c.1627G>C (p.Asp543His)
NM_000489.6(ATRX):c.1639G>A (p.Asp547Asn)
NM_000489.6(ATRX):c.1640A>G (p.Asp547Gly)
NM_000489.6(ATRX):c.1643G>A (p.Gly548Asp)
NM_000489.6(ATRX):c.1655C>A (p.Thr552Asn)
NM_000489.6(ATRX):c.1655C>G (p.Thr552Ser) rs2071378519
NM_000489.6(ATRX):c.1656T>C (p.Thr552=) rs781971866
NM_000489.6(ATRX):c.1658A>T (p.Glu553Val)
NM_000489.6(ATRX):c.1662A>G (p.Gln554=) rs2148617521
NM_000489.6(ATRX):c.1665A>G (p.Glu555=)
NM_000489.6(ATRX):c.1674T>A (p.Ser558Arg) rs1569539199
NM_000489.6(ATRX):c.1676C>T (p.Ser559Leu) rs1060499760
NM_000489.6(ATRX):c.1677A>G (p.Ser559=) rs782560764
NM_000489.6(ATRX):c.1678T>C (p.Ser560Pro)
NM_000489.6(ATRX):c.167T>A (p.Met56Lys) rs782553856
NM_000489.6(ATRX):c.1693A>G (p.Ile565Val)
NM_000489.6(ATRX):c.1694T>G (p.Ile565Ser) rs1557140924
NM_000489.6(ATRX):c.1698T>C (p.Ser566=)
NM_000489.6(ATRX):c.1702A>G (p.Lys568Glu)
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.1722T>G (p.Ile574Met) rs2071372568
NM_000489.6(ATRX):c.1725A>G (p.Lys575=) rs2148616095
NM_000489.6(ATRX):c.1727C>A (p.Ser576Ter) rs2071372283
NM_000489.6(ATRX):c.1727C>G (p.Ser576Ter) rs2071372283
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.1744G>T (p.Val582Leu)
NM_000489.6(ATRX):c.1750A>G (p.Lys584Glu)
NM_000489.6(ATRX):c.1760A>G (p.Tyr587Cys)
NM_000489.6(ATRX):c.1772C>A (p.Thr591Asn)
NM_000489.6(ATRX):c.1772C>G (p.Thr591Ser)
NM_000489.6(ATRX):c.1772C>T (p.Thr591Ile)
NM_000489.6(ATRX):c.1781C>G (p.Ser594Cys) rs782774889
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.180C>T (p.Ser60=) rs2072319089
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.182A>G (p.Lys61Arg)
NM_000489.6(ATRX):c.1831G>C (p.Asp611His)
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.1846A>G (p.Lys616Glu) rs2071363928
NM_000489.6(ATRX):c.1856G>A (p.Gly619Asp)
NM_000489.6(ATRX):c.1860G>A (p.Leu620=) rs2148613217
NM_000489.6(ATRX):c.1865C>G (p.Pro622Arg)
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+5G>A rs2072317981
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.190-19A>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.1904_1918del (p.Asp635_Leu639del) rs2071359110
NM_000489.6(ATRX):c.1908T>C (p.Asn636=)
NM_000489.6(ATRX):c.1910A>G (p.Glu637Gly) rs2071360128
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.1918G>A (p.Val640Ile)
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.1933dup (p.Ser645fs)
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.194C>A (p.Thr65Asn)
NM_000489.6(ATRX):c.1955A>T (p.Asp652Val) rs2071357500
NM_000489.6(ATRX):c.195_196insGTG (p.Thr65_Ser66insVal)
NM_000489.6(ATRX):c.1960C>T (p.Arg654Ter) rs1557140492
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.1973G>A (p.Arg658His) rs2148610304
NM_000489.6(ATRX):c.1974T>G (p.Arg658=) rs1603222314
NM_000489.6(ATRX):c.1975G>A (p.Val659Ile) rs2148610218
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.1999C>T (p.Pro667Ser)
NM_000489.6(ATRX):c.20+11A>G
NM_000489.6(ATRX):c.20+12C>T
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.2001G>T (p.Pro667=)
NM_000489.6(ATRX):c.2002A>C (p.Thr668Pro)
NM_000489.6(ATRX):c.2005G>C (p.Glu669Gln)
NM_000489.6(ATRX):c.2011A>T (p.Asn671Tyr)
NM_000489.6(ATRX):c.2019A>G (p.Val673=)
NM_000489.6(ATRX):c.201T>C (p.Ser67=)
NM_000489.6(ATRX):c.2023T>G (p.Ser675Ala)
NM_000489.6(ATRX):c.2032G>A (p.Asp678Asn)
NM_000489.6(ATRX):c.2040A>G (p.Glu680=)
NM_000489.6(ATRX):c.2044A>G (p.Asn682Asp)
NM_000489.6(ATRX):c.204A>G (p.Ser68=) rs2072255187
NM_000489.6(ATRX):c.2058G>A (p.Lys686=)
NM_000489.6(ATRX):c.2059G>C (p.Glu687Gln)
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.21-6dup
NM_000489.6(ATRX):c.21-8T>G
NM_000489.6(ATRX):c.2101C>T (p.Arg701Cys)
NM_000489.6(ATRX):c.2104A>G (p.Asn702Asp) rs1557140316
NM_000489.6(ATRX):c.2120C>G (p.Ala707Gly)
NM_000489.6(ATRX):c.2124A>G (p.Ile708Met)
NM_000489.6(ATRX):c.212C>T (p.Ser71Phe)
NM_000489.6(ATRX):c.2134A>G (p.Lys712Glu) rs2071344958
NM_000489.6(ATRX):c.2136G>A (p.Lys712=) rs2071344638
NM_000489.6(ATRX):c.2136G>C (p.Lys712Asn) rs2071344638
NM_000489.6(ATRX):c.2144_2145delinsCT (p.Lys715Thr) rs1603221650
NM_000489.6(ATRX):c.215A>T (p.Lys72Met)
NM_000489.6(ATRX):c.2160G>A (p.Lys720=)
NM_000489.6(ATRX):c.2166A>G (p.Ser722=) rs2148605269
NM_000489.6(ATRX):c.2168A>T (p.Glu723Val)
NM_000489.6(ATRX):c.2169G>A (p.Glu723=)
NM_000489.6(ATRX):c.2169G>T (p.Glu723Asp)
NM_000489.6(ATRX):c.2169_2170del (p.Glu723fs)
NM_000489.6(ATRX):c.216G>A (p.Lys72=) rs2148681410
NM_000489.6(ATRX):c.2172T>C (p.Thr724=)
NM_000489.6(ATRX):c.2173G>C (p.Val725Leu) rs2071341824
NM_000489.6(ATRX):c.2184T>C (p.Asn728=)
NM_000489.6(ATRX):c.2191T>C (p.Ser731Pro) rs2071340254
NM_000489.6(ATRX):c.2200A>G (p.Met734Val) rs2071339556
NM_000489.6(ATRX):c.2202G>T (p.Met734Ile)
NM_000489.6(ATRX):c.2206G>A (p.Ala736Thr)
NM_000489.6(ATRX):c.2214C>G (p.Leu738=)
NM_000489.6(ATRX):c.2218G>A (p.Glu740Lys)
NM_000489.6(ATRX):c.2218G>C (p.Glu740Gln) rs782341193
NM_000489.6(ATRX):c.2220G>A (p.Glu740=)
NM_000489.6(ATRX):c.2220G>C (p.Glu740Asp)
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.2241TTC[2] (p.Ser750del) rs1297294136
NM_000489.6(ATRX):c.2243C>G (p.Ser748Cys)
NM_000489.6(ATRX):c.2249C>T (p.Ser750Leu)
NM_000489.6(ATRX):c.2253T>C (p.Asp751=) rs2071332682
NM_000489.6(ATRX):c.2257G>A (p.Asp753Asn)
NM_000489.6(ATRX):c.2262T>G (p.Ile754Met) rs1557140015
NM_000489.6(ATRX):c.2263A>G (p.Asn755Asp)
NM_000489.6(ATRX):c.2265T>G (p.Asn755Lys)
NM_000489.6(ATRX):c.2268A>G (p.Glu756=)
NM_000489.6(ATRX):c.2277A>G (p.Thr759=) rs2148602323
NM_000489.6(ATRX):c.2279A>C (p.Asn760Thr)
NM_000489.6(ATRX):c.2279A>G (p.Asn760Ser)
NM_000489.6(ATRX):c.2280C>A (p.Asn760Lys) rs2148602163
NM_000489.6(ATRX):c.2282A>G (p.His761Arg)
NM_000489.6(ATRX):c.2283T>C (p.His761=) rs2148602060
NM_000489.6(ATRX):c.2286G>C (p.Lys762Asn)
NM_000489.6(ATRX):c.2289T>C (p.Thr763=)
NM_000489.6(ATRX):c.2293T>C (p.Tyr765His) rs2071326352
NM_000489.6(ATRX):c.2304G>C (p.Lys768Asn) rs1557139920
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.2320G>C (p.Asp774His) rs1557139871
NM_000489.6(ATRX):c.2323G>C (p.Asp775His) rs2071322741
NM_000489.6(ATRX):c.2325T>C (p.Asp775=) rs2148600693
NM_000489.6(ATRX):c.2326A>C (p.Lys776Gln)
NM_000489.6(ATRX):c.2334A>G (p.Lys778=)
NM_000489.6(ATRX):c.233G>T (p.Arg78Leu)
NM_000489.6(ATRX):c.2340A>G (p.Lys780=) rs1603220796
NM_000489.6(ATRX):c.2342G>A (p.Arg781Gln) rs1603220762
NM_000489.6(ATRX):c.2345A>T (p.Lys782Ile) rs781957333
NM_000489.6(ATRX):c.2353A>G (p.Thr785Ala)
NM_000489.6(ATRX):c.2355A>C (p.Thr785=)
NM_000489.6(ATRX):c.2355A>G (p.Thr785=)
NM_000489.6(ATRX):c.2360G>C (p.Gly787Ala)
NM_000489.6(ATRX):c.2361C>A (p.Gly787=) rs2148599810
NM_000489.6(ATRX):c.2377A>G (p.Lys793Glu)
NM_000489.6(ATRX):c.2379A>T (p.Lys793Asn)
NM_000489.6(ATRX):c.2383G>A (p.Gly795Ser)
NM_000489.6(ATRX):c.2388A>C (p.Lys796Asn) rs1603220590
NM_000489.6(ATRX):c.2391A>T (p.Ser797=) rs2148599103
NM_000489.6(ATRX):c.2400C>G (p.Ser800Arg)
NM_000489.6(ATRX):c.2401T>C (p.Ser801Pro)
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.2422C>T (p.Arg808Ter) rs891068548
NM_000489.6(ATRX):c.2429C>A (p.Thr810Asn) rs2148598084
NM_000489.6(ATRX):c.243-17A>G
NM_000489.6(ATRX):c.243-8dup rs1569540561
NM_000489.6(ATRX):c.2431del (p.Gln811fs)
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.2461_2466del (p.Leu821_Glu822del) rs781862926
NM_000489.6(ATRX):c.2466A>C (p.Glu822Asp)
NM_000489.6(ATRX):c.246A>G (p.Lys82=)
NM_000489.6(ATRX):c.2470G>C (p.Glu824Gln) rs2071304603
NM_000489.6(ATRX):c.2473A>T (p.Ile825Leu)
NM_000489.6(ATRX):c.2478G>C (p.Lys826Asn)
NM_000489.6(ATRX):c.2492T>C (p.Ile831Thr) rs1603220048
NM_000489.6(ATRX):c.2493T>C (p.Ile831=)
NM_000489.6(ATRX):c.2493T>G (p.Ile831Met)
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>C (p.Glu8Asp) rs2148752831
NM_000489.6(ATRX):c.24A>G (p.Glu8=)
NM_000489.6(ATRX):c.2507C>A (p.Thr836Asn) rs1603219919
NM_000489.6(ATRX):c.2510C>T (p.Thr837Ile)
NM_000489.6(ATRX):c.2515A>G (p.Lys839Glu)
NM_000489.6(ATRX):c.2519G>C (p.Arg840Thr)
NM_000489.6(ATRX):c.2519G>T (p.Arg840Ile)
NM_000489.6(ATRX):c.2520A>C (p.Arg840Ser)
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.2535A>G (p.Lys845=)
NM_000489.6(ATRX):c.2536G>C (p.Asp846His)
NM_000489.6(ATRX):c.2542G>C (p.Asp848His)
NM_000489.6(ATRX):c.2547T>C (p.Ser849=) rs2148594824
NM_000489.6(ATRX):c.2549C>T (p.Ser850Phe)
NM_000489.6(ATRX):c.2550T>C (p.Ser850=)
NM_000489.6(ATRX):c.2555A>G (p.Asp852Gly)
NM_000489.6(ATRX):c.2556T>A (p.Asp852Glu)
NM_000489.6(ATRX):c.2565C>T (p.His855=) rs2148594303
NM_000489.6(ATRX):c.2566A>G (p.Ser856Gly)
NM_000489.6(ATRX):c.2571A>C (p.Lys857Asn)
NM_000489.6(ATRX):c.2574A>T (p.Lys858Asn)
NM_000489.6(ATRX):c.2575G>C (p.Gly859Arg)
NM_000489.6(ATRX):c.2580G>T (p.Met860Ile)
NM_000489.6(ATRX):c.2585A>C (p.Asn862Thr)
NM_000489.6(ATRX):c.2591G>T (p.Gly864Val) rs2148593605
NM_000489.6(ATRX):c.2592G>T (p.Gly864=) rs782526944
NM_000489.6(ATRX):c.2595C>G (p.His865Gln) rs61752455
NM_000489.6(ATRX):c.2595C>T (p.His865=) rs61752455
NM_000489.6(ATRX):c.2601T>C (p.Asn867=)
NM_000489.6(ATRX):c.2604G>C (p.Leu868Phe) rs781808505
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.2621G>C (p.Gly874Ala) rs782339652
NM_000489.6(ATRX):c.2625A>G (p.Ser875=)
NM_000489.6(ATRX):c.2627C>G (p.Ser876Cys)
NM_000489.6(ATRX):c.2629G>A (p.Asp877Asn) rs886044896
NM_000489.6(ATRX):c.2633A>G (p.Asp878Gly) rs2071285505
NM_000489.6(ATRX):c.2635G>T (p.Ala879Ser)
NM_000489.6(ATRX):c.2640A>G (p.Glu880=) rs2148592348
NM_000489.6(ATRX):c.2642G>A (p.Arg881Lys)
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.2653A>C (p.Arg885=) rs1603219083
NM_000489.6(ATRX):c.2657A>G (p.Glu886Gly) rs2071282891
NM_000489.6(ATRX):c.2664C>G (p.Phe888Leu)
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.2674G>A (p.Glu892Lys) rs1603218994
NM_000489.6(ATRX):c.2677G>C (p.Gly893Arg)
NM_000489.6(ATRX):c.2678dup (p.Thr894fs) rs2148591494
NM_000489.6(ATRX):c.267T>C (p.Tyr89=) rs2148677803
NM_000489.6(ATRX):c.2681C>T (p.Thr894Ile) rs2148591370
NM_000489.6(ATRX):c.2686G>C (p.Asp896His) rs2071279824
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.2696C>A (p.Thr899Lys) rs782757975
NM_000489.6(ATRX):c.2698A>G (p.Thr900Ala)
NM_000489.6(ATRX):c.2703C>T (p.Ile901=) rs2148590818
NM_000489.6(ATRX):c.2711T>A (p.Leu904Ter)
NM_000489.6(ATRX):c.2716G>A (p.Asp906Asn)
NM_000489.6(ATRX):c.2721A>G (p.Arg907=)
NM_000489.6(ATRX):c.2726C>T (p.Pro909Leu)
NM_000489.6(ATRX):c.2731A>C (p.Lys911Gln)
NM_000489.6(ATRX):c.2752A>G (p.Thr918Ala) rs1603218619
NM_000489.6(ATRX):c.2758G>A (p.Gly920Ser)
NM_000489.6(ATRX):c.2769G>A (p.Lys923=) rs2148589245
NM_000489.6(ATRX):c.2770C>A (p.Leu924Ile) rs1569538903
NM_000489.6(ATRX):c.2777G>A (p.Gly926Glu) rs2071271385
NM_000489.6(ATRX):c.2783A>G (p.Glu928Gly)
NM_000489.6(ATRX):c.2789G>C (p.Ser930Thr) rs727503817
NM_000489.6(ATRX):c.2796T>C (p.Thr932=) rs2071269397
NM_000489.6(ATRX):c.2802G>A (p.Leu934=)
NM_000489.6(ATRX):c.2803G>A (p.Glu935Lys)
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.2818G>A (p.Ala940Thr) rs2148588122
NM_000489.6(ATRX):c.2819C>T (p.Ala940Val) rs2071267970
NM_000489.6(ATRX):c.2829A>G (p.Lys943=) rs2148587852
NM_000489.6(ATRX):c.2830G>C (p.Glu944Gln)
NM_000489.6(ATRX):c.2830_2832del (p.Glu944del) rs1338172022
NM_000489.6(ATRX):c.2837G>C (p.Ser946Thr)
NM_000489.6(ATRX):c.2837G>T (p.Ser946Ile)
NM_000489.6(ATRX):c.2838C>G (p.Ser946Arg) rs2071266406
NM_000489.6(ATRX):c.2853C>T (p.Thr951=) rs2148587341
NM_000489.6(ATRX):c.2861G>T (p.Cys954Phe)
NM_000489.6(ATRX):c.2864A>C (p.Lys955Thr)
NM_000489.6(ATRX):c.2866_2868del (p.Lys956del) rs782077612
NM_000489.6(ATRX):c.2870T>C (p.Val957Ala) rs2148587031
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.2884T>C (p.Ser962Pro) rs2148586632
NM_000489.6(ATRX):c.2897A>G (p.Glu966Gly)
NM_000489.6(ATRX):c.2898G>A (p.Glu966=) rs138256318
NM_000489.6(ATRX):c.2906T>C (p.Leu969Pro) rs2071260958
NM_000489.6(ATRX):c.2907A>G (p.Leu969=) rs782330959
NM_000489.6(ATRX):c.2910G>A (p.Lys970=)
NM_000489.6(ATRX):c.2918A>G (p.Gln973Arg) rs2148585851
NM_000489.6(ATRX):c.2919G>C (p.Gln973His)
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.2942A>G (p.Asp981Gly) rs2071258052
NM_000489.6(ATRX):c.2956A>G (p.Lys986Glu) rs2071255335
NM_000489.6(ATRX):c.2957A>G (p.Lys986Arg)
NM_000489.6(ATRX):c.2961G>A (p.Lys987=)
NM_000489.6(ATRX):c.2962G>A (p.Gly988Arg) rs2071254827
NM_000489.6(ATRX):c.2970A>G (p.Glu990=) rs782253066
NM_000489.6(ATRX):c.2971G>A (p.Glu991Lys) rs782574426
NM_000489.6(ATRX):c.2971G>C (p.Glu991Gln)
NM_000489.6(ATRX):c.2972A>G (p.Glu991Gly)
NM_000489.6(ATRX):c.2973A>G (p.Glu991=) rs2148584456
NM_000489.6(ATRX):c.2974A>G (p.Lys992Glu) rs2148584437
NM_000489.6(ATRX):c.2978A>G (p.Lys993Arg)
NM_000489.6(ATRX):c.2988A>G (p.Ser996=)
NM_000489.6(ATRX):c.2989G>C (p.Asp997His)
NM_000489.6(ATRX):c.2991C>T (p.Asp997=)
NM_000489.6(ATRX):c.3001A>C (p.Lys1001Gln) rs2148583946
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.3010A>T (p.Lys1004Ter)
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.3040G>A (p.Asp1014Asn)
NM_000489.6(ATRX):c.3048T>C (p.Thr1016=)
NM_000489.6(ATRX):c.3063G>A (p.Glu1021=) rs2071246611
NM_000489.6(ATRX):c.3064C>T (p.Arg1022Ter)
NM_000489.6(ATRX):c.3066A>G (p.Arg1022=)
NM_000489.6(ATRX):c.306T>G (p.Thr102=)
NM_000489.6(ATRX):c.3071A>C (p.Glu1024Ala)
NM_000489.6(ATRX):c.3075T>G (p.Ile1025Met) rs2148582142
NM_000489.6(ATRX):c.3086C>T (p.Pro1029Leu)
NM_000489.6(ATRX):c.3089_3099del (p.Lys1030fs)
NM_000489.6(ATRX):c.3090G>A (p.Lys1030=)
NM_000489.6(ATRX):c.3090G>C (p.Lys1030Asn)
NM_000489.6(ATRX):c.3092G>A (p.Gly1031Asp) rs782088552
NM_000489.6(ATRX):c.3094A>G (p.Ile1032Val)
NM_000489.6(ATRX):c.3105T>A (p.Ile1035=)
NM_000489.6(ATRX):c.3108G>A (p.Lys1036=)
NM_000489.6(ATRX):c.3111T>C (p.Asn1037=)
NM_000489.6(ATRX):c.3112G>A (p.Gly1038Arg)
NM_000489.6(ATRX):c.3120T>G (p.Thr1040=) rs2148581284
NM_000489.6(ATRX):c.3122A>T (p.Asp1041Val)
NM_000489.6(ATRX):c.3124G>A (p.Gly1042Arg)
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.3151G>C (p.Asp1051His)
NM_000489.6(ATRX):c.3152A>G (p.Asp1051Gly) rs1557138081
NM_000489.6(ATRX):c.3153T>C (p.Asp1051=) rs1453641319
NM_000489.6(ATRX):c.3166A>G (p.Lys1056Glu)
NM_000489.6(ATRX):c.3170A>T (p.Lys1057Met) rs2071238285
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.3200C>T (p.Ser1067Leu) rs2071236443
NM_000489.6(ATRX):c.3205G>A (p.Gly1069Arg)
NM_000489.6(ATRX):c.3207G>T (p.Gly1069=)
NM_000489.6(ATRX):c.3209A>C (p.Lys1070Thr)
NM_000489.6(ATRX):c.320C>T (p.Ala107Val)
NM_000489.6(ATRX):c.3214G>C (p.Asp1072His)
NM_000489.6(ATRX):c.3219T>C (p.Ser1073=)
NM_000489.6(ATRX):c.3220T>C (p.Cys1074Arg)
NM_000489.6(ATRX):c.3222T>G (p.Cys1074Trp)
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.3236A>T (p.Asp1079Val)
NM_000489.6(ATRX):c.3249G>C (p.Lys1083Asn)
NM_000489.6(ATRX):c.3258A>T (p.Ala1086=)
NM_000489.6(ATRX):c.3262G>A (p.Gly1088Ser)
NM_000489.6(ATRX):c.3265A>G (p.Arg1089Gly)
NM_000489.6(ATRX):c.3266_3274del (p.Arg1089_Lys1091del)
NM_000489.6(ATRX):c.3267A>G (p.Arg1089=)
NM_000489.6(ATRX):c.3273G>A (p.Lys1091=) rs2148577440
NM_000489.6(ATRX):c.3276A>C (p.Lys1092Asn)
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.3289C>T (p.Leu1097Phe)
NM_000489.6(ATRX):c.3291T>G (p.Leu1097=)
NM_000489.6(ATRX):c.3294A>G (p.Gly1098=)
NM_000489.6(ATRX):c.3317A>G (p.Asp1106Gly)
NM_000489.6(ATRX):c.3318T>A (p.Asp1106Glu) rs2148576296
NM_000489.6(ATRX):c.3324A>G (p.Ser1108=) rs2148576136
NM_000489.6(ATRX):c.3324ATC[1] (p.Ser1110del)
NM_000489.6(ATRX):c.3327A>T (p.Ser1109=)
NM_000489.6(ATRX):c.3336T>A (p.Thr1112=) rs2071225400
NM_000489.6(ATRX):c.3342A>G (p.Lys1114=)
NM_000489.6(ATRX):c.3345T>C (p.Tyr1115=)
NM_000489.6(ATRX):c.3349A>G (p.Met1117Val) rs1569538741
NM_000489.6(ATRX):c.3350T>C (p.Met1117Thr)
NM_000489.6(ATRX):c.3354A>G (p.Lys1118=)
NM_000489.6(ATRX):c.3357A>C (p.Glu1119Asp)
NM_000489.6(ATRX):c.3358G>T (p.Asp1120Tyr) rs1557137601
NM_000489.6(ATRX):c.3359A>T (p.Asp1120Val)
NM_000489.6(ATRX):c.3364T>A (p.Cys1122Ser)
NM_000489.6(ATRX):c.3365G>T (p.Cys1122Phe)
NM_000489.6(ATRX):c.3369C>T (p.Asn1123=)
NM_000489.6(ATRX):c.3383G>C (p.Arg1128Thr)
NM_000489.6(ATRX):c.3395T>A (p.Ile1132Lys)
NM_000489.6(ATRX):c.3400T>C (p.Leu1134=) rs2148574294
NM_000489.6(ATRX):c.3408A>G (p.Glu1136=)
NM_000489.6(ATRX):c.3409A>G (p.Arg1137Gly) rs2148574004
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.3433A>C (p.Asn1145His) rs2148573453
NM_000489.6(ATRX):c.3437C>T (p.Thr1146Ile)
NM_000489.6(ATRX):c.3440A>G (p.Lys1147Arg)
NM_000489.6(ATRX):c.3442G>C (p.Glu1148Gln) rs2148573185
NM_000489.6(ATRX):c.3444A>C (p.Glu1148Asp)
NM_000489.6(ATRX):c.3449A>G (p.Gln1150Arg) rs2148573004
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.3467C>T (p.Ser1156Phe)
NM_000489.6(ATRX):c.3468T>C (p.Ser1156=)
NM_000489.6(ATRX):c.346A>G (p.Ile116Val)
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.3480A>T (p.Glu1160Asp) rs2071212651
NM_000489.6(ATRX):c.3491A>T (p.Asp1164Val)
NM_000489.6(ATRX):c.3492TAA[1] (p.Asn1165del)
NM_000489.6(ATRX):c.3494A>G (p.Asn1165Ser)
NM_000489.6(ATRX):c.3495T>C (p.Asn1165=) rs782405789
NM_000489.6(ATRX):c.3495_3500del (p.Asn1165_Lys1166del) rs1557137281
NM_000489.6(ATRX):c.3498_3500del (p.Lys1169del) rs782695846
NM_000489.6(ATRX):c.3506A>C (p.Lys1169Thr)
NM_000489.6(ATRX):c.351T>C (p.Thr117=)
NM_000489.6(ATRX):c.3521C>T (p.Ser1174Phe)
NM_000489.6(ATRX):c.3532G>A (p.Ala1178Thr)
NM_000489.6(ATRX):c.3535G>A (p.Val1179Ile) rs1569538665
NM_000489.6(ATRX):c.3545A>G (p.Lys1182Arg)
NM_000489.6(ATRX):c.3546G>A (p.Lys1182=)
NM_000489.6(ATRX):c.3546G>C (p.Lys1182Asn) rs1490780716
NM_000489.6(ATRX):c.3549G>C (p.Glu1183Asp)
NM_000489.6(ATRX):c.3563C>T (p.Ser1188Phe)
NM_000489.6(ATRX):c.3565C>T (p.Leu1189=) rs2148570011
NM_000489.6(ATRX):c.3569G>C (p.Arg1190Thr)
NM_000489.6(ATRX):c.3572C>T (p.Thr1191Ile) rs2148569833
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.3603A>G (p.Thr1201=)
NM_000489.6(ATRX):c.3606C>A (p.Ser1202=)
NM_000489.6(ATRX):c.3607T>C (p.Ser1203Pro)
NM_000489.6(ATRX):c.3610TCT[2] (p.Ser1206del) rs782162142
NM_000489.6(ATRX):c.3611C>G (p.Ser1204Cys)
NM_000489.6(ATRX):c.3612T>A (p.Ser1204=)
NM_000489.6(ATRX):c.3620A>G (p.Asp1207Gly)
NM_000489.6(ATRX):c.3624AGA[1] (p.Glu1209del)
NM_000489.6(ATRX):c.3635A>G (p.Asp1212Gly)
NM_000489.6(ATRX):c.3639G>C (p.Gln1213His)
NM_000489.6(ATRX):c.3641A>G (p.Asn1214Ser) rs144527582
NM_000489.6(ATRX):c.3642T>G (p.Asn1214Lys) rs2148568110
NM_000489.6(ATRX):c.3649G>A (p.Gly1217Ser)
NM_000489.6(ATRX):c.3654G>A (p.Glu1218=)
NM_000489.6(ATRX):c.3676del (p.Ile1226fs) rs2148567280
NM_000489.6(ATRX):c.3682C>T (p.Pro1228Ser)
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+5T>C rs1557149836
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.371-1201G>A
NM_000489.6(ATRX):c.371-4C>G rs1603240656
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+16T>C
NM_000489.6(ATRX):c.3736+16_3736+19del
NM_000489.6(ATRX):c.3736+18A>C
NM_000489.6(ATRX):c.3736+5G>A
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.3737-9dup
NM_000489.6(ATRX):c.3746C>A (p.Ala1249Asp)
NM_000489.6(ATRX):c.3751T>C (p.Ser1251Pro)
NM_000489.6(ATRX):c.3768C>T (p.Val1256=) rs782065949
NM_000489.6(ATRX):c.3777TGA[5] (p.Asp1264_Asn1265insAsp)
NM_000489.6(ATRX):c.3790G>A (p.Asp1264Asn)
NM_000489.6(ATRX):c.3791A>G (p.Asp1264Gly) rs2148542963
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.3810-20del
NM_000489.6(ATRX):c.3810-20dup
NM_000489.6(ATRX):c.3810-6C>T rs1603148801
NM_000489.6(ATRX):c.3813T>G (p.Ile1271Met) rs2070142302
NM_000489.6(ATRX):c.3840T>A (p.Ile1280=) rs2148498302
NM_000489.6(ATRX):c.3856T>A (p.Ser1286Thr)
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.3917A>G (p.Gln1306Arg)
NM_000489.6(ATRX):c.3924A>T (p.Glu1308Asp) rs2070136349
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>A
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.3944-6A>G
NM_000489.6(ATRX):c.3944-7C>T rs2070047774
NM_000489.6(ATRX):c.3950A>C (p.Lys1317Thr)
NM_000489.6(ATRX):c.3955C>G (p.Gln1319Glu)
NM_000489.6(ATRX):c.3956A>G (p.Gln1319Arg)
NM_000489.6(ATRX):c.3969A>G (p.Glu1323=) rs2148489875
NM_000489.6(ATRX):c.397G>T (p.Val133Leu)
NM_000489.6(ATRX):c.3981T>C (p.Asp1327=) rs2148489592
NM_000489.6(ATRX):c.3983C>A (p.Ser1328Tyr) rs930261155
NM_000489.6(ATRX):c.3984T>C (p.Ser1328=)
NM_000489.6(ATRX):c.3984T>G (p.Ser1328=) rs2148489508
NM_000489.6(ATRX):c.3994A>C (p.Lys1332Gln)
NM_000489.6(ATRX):c.3999G>A (p.Lys1333=) rs1434514176
NM_000489.6(ATRX):c.399_400dup (p.Leu134fs)
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.4004G>T (p.Arg1335Ile) rs1569536694
NM_000489.6(ATRX):c.4008C>T (p.Tyr1336=) rs2148489036
NM_000489.6(ATRX):c.4018C>T (p.Leu1340Phe) rs2070041722
NM_000489.6(ATRX):c.4024C>A (p.Arg1342=)
NM_000489.6(ATRX):c.4024C>T (p.Arg1342Trp)
NM_000489.6(ATRX):c.4027C>T (p.His1343Tyr)
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.4069A>T (p.Lys1357Ter) rs2070037318
NM_000489.6(ATRX):c.4076A>G (p.Lys1359Arg)
NM_000489.6(ATRX):c.4080T>C (p.Pro1360=)
NM_000489.6(ATRX):c.4081A>G (p.Lys1361Glu) rs1886161029
NM_000489.6(ATRX):c.4088A>G (p.His1363Arg)
NM_000489.6(ATRX):c.4091A>C (p.Lys1364Thr)
NM_000489.6(ATRX):c.4095A>G (p.Glu1365=) rs2148487372
NM_000489.6(ATRX):c.4097T>A (p.Val1366Asp)
NM_000489.6(ATRX):c.4098C>G (p.Val1366=)
NM_000489.6(ATRX):c.4103G>T (p.Gly1368Val) rs2148487205
NM_000489.6(ATRX):c.4104C>G (p.Gly1368=) rs782726352
NM_000489.6(ATRX):c.4104C>T (p.Gly1368=) rs782726352
NM_000489.6(ATRX):c.4105A>G (p.Arg1369Gly)
NM_000489.6(ATRX):c.4116_4119del (p.Arg1372_Lys1373insTer) rs2070034528
NM_000489.6(ATRX):c.4119G>A (p.Lys1373=)
NM_000489.6(ATRX):c.411C>A (p.Asp137Glu)
NM_000489.6(ATRX):c.4121-11T>A
NM_000489.6(ATRX):c.4121-3A>G
NM_000489.6(ATRX):c.4121-9A>C rs2148461126
NM_000489.6(ATRX):c.4122G>A (p.Val1374=)
NM_000489.6(ATRX):c.4124G>A (p.Ser1375Asn)
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.4183G>A (p.Glu1395Lys)
NM_000489.6(ATRX):c.4188C>T (p.Ser1396=)
NM_000489.6(ATRX):c.4189G>A (p.Glu1397Lys)
NM_000489.6(ATRX):c.4192G>C (p.Asp1398His)
NM_000489.6(ATRX):c.4194T>C (p.Asp1398=)
NM_000489.6(ATRX):c.4199A>T (p.Gln1400Leu) rs2069567164
NM_000489.6(ATRX):c.4201C>G (p.Arg1401Gly)
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+18del
NM_000489.6(ATRX):c.4214+19A>T
NM_000489.6(ATRX):c.4214+4T>G rs2148460567
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.4215-5G>C rs111833322
NM_000489.6(ATRX):c.4215-9T>A
NM_000489.6(ATRX):c.4215G>A (p.Arg1405=)
NM_000489.6(ATRX):c.4216T>C (p.Ser1406Pro)
NM_000489.6(ATRX):c.4216T>G (p.Ser1406Ala) rs2148451827
NM_000489.6(ATRX):c.4226A>G (p.Lys1409Arg)
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.4228G>A (p.Ala1410Thr)
NM_000489.6(ATRX):c.4230A>G (p.Ala1410=)
NM_000489.6(ATRX):c.4231G>A (p.Glu1411Lys)
NM_000489.6(ATRX):c.4233G>T (p.Glu1411Asp) rs1557118780
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.4256A>C (p.Tyr1419Ser)
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.4277G>A (p.Arg1426Gln) rs1557118717
NM_000489.6(ATRX):c.4279C>T (p.Arg1427Cys)
NM_000489.6(ATRX):c.4287G>A (p.Lys1429=)
NM_000489.6(ATRX):c.4293A>G (p.Gln1431=)
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>G (p.Asn1438Asp) rs971839925
NM_000489.6(ATRX):c.4312A>T (p.Asn1438Tyr)
NM_000489.6(ATRX):c.4317+11C>T
NM_000489.6(ATRX):c.4317G>A (p.Lys1439=) rs1569535642
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.4329G>T (p.Glu1443Asp)
NM_000489.6(ATRX):c.4332AGA[1] (p.Glu1448del) rs1356648720
NM_000489.6(ATRX):c.4338GGA[1] (p.Glu1448del) rs782410402
NM_000489.6(ATRX):c.4341G>A (p.Glu1447=)
NM_000489.6(ATRX):c.4344_4358del (p.Lys1449_Glu1453del) rs1557117436
NM_000489.6(ATRX):c.4347AGA[1] (p.Glu1464del) rs587780288
NM_000489.6(ATRX):c.4347_4358del (p.Glu1461_Glu1464del) rs1557117424
NM_000489.6(ATRX):c.4350A>G (p.Glu1450=) rs1445980438
NM_000489.6(ATRX):c.4350AGAGGAGGAGGA[3] (p.Glu1464_Asp1465insGluGluGluGlu)
NM_000489.6(ATRX):c.4353GGA[2] (p.Glu1464del) rs782630348
NM_000489.6(ATRX):c.4353GGA[4] (p.Glu1464_Asp1465insGlu)
NM_000489.6(ATRX):c.4356GGAGGAAGAGGAGGAGGA[1] (p.Glu1459_Glu1464del) rs782794214
NM_000489.6(ATRX):c.4356GGAGGAAGAGGAGGAGGA[3] (p.Glu1464_Asp1465insGluGluGluGluGluGlu)
NM_000489.6(ATRX):c.4359G>A (p.Glu1453=)
NM_000489.6(ATRX):c.4362_4364del (p.Glu1464del)
NM_000489.6(ATRX):c.4362_4370del (p.Glu1462_Glu1464del) rs781816162
NM_000489.6(ATRX):c.4362_4376dup (p.Glu1460_Glu1464dup) rs2069287154
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.4365GGA[6] (p.Glu1464dup) rs398123423
NM_000489.6(ATRX):c.4365_4394del (p.Glu1455_Glu1464del) rs1312591978
NM_000489.6(ATRX):c.4371GGAGGAGGAAGA[1] (p.Glu1461_Glu1464del) rs781854613
NM_000489.6(ATRX):c.4371GGAGGAGGAAGA[3] (p.Glu1464_Asp1465insGluGluGluGlu)
NM_000489.6(ATRX):c.4372G>A (p.Glu1458Lys)
NM_000489.6(ATRX):c.4386G>T (p.Glu1462Asp)
NM_000489.6(ATRX):c.4389G>A (p.Glu1463=)
NM_000489.6(ATRX):c.4392A>C (p.Glu1464Asp)
NM_000489.6(ATRX):c.4399A>T (p.Asn1467Tyr)
NM_000489.6(ATRX):c.4401T>C (p.Asn1467=)
NM_000489.6(ATRX):c.4407T>A (p.Asp1469Glu)
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.4457A>T (p.Asp1486Val)
NM_000489.6(ATRX):c.4458T>C (p.Asp1486=) rs2148437345
NM_000489.6(ATRX):c.4460A>G (p.Asp1487Gly)
NM_000489.6(ATRX):c.4464A>G (p.Lys1488=)
NM_000489.6(ATRX):c.4471A>G (p.Thr1491Ala)
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.448A>G (p.Ser150Gly) rs2072040574
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>G
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.4558-3T>G rs1602996115
NM_000489.6(ATRX):c.4558-8del
NM_000489.6(ATRX):c.4569T>C (p.Ile1523=) rs2148360789
NM_000489.6(ATRX):c.4576G>C (p.Ala1526Pro)
NM_000489.6(ATRX):c.4586C>T (p.Thr1529Ile)
NM_000489.6(ATRX):c.4590G>A (p.Lys1530=) rs2148360161
NM_000489.6(ATRX):c.4590G>C (p.Lys1530Asn) 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.4620TGAAGA[1] (p.1540DE[1]) rs797045406
NM_000489.6(ATRX):c.4642C>G (p.Pro1548Ala)
NM_000489.6(ATRX):c.4654G>T (p.Val1552Phe) rs1602995714
NM_000489.6(ATRX):c.4660A>G (p.Arg1554Gly) rs2068328911
NM_000489.6(ATRX):c.4661G>A (p.Arg1554Lys) rs2148358518
NM_000489.6(ATRX):c.4665T>C (p.Asn1555=)
NM_000489.6(ATRX):c.4699+11A>G
NM_000489.6(ATRX):c.4699+3A>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.4744A>G (p.Thr1582Ala)
NM_000489.6(ATRX):c.4755T>A (p.Ser1585=) rs2148350086
NM_000489.6(ATRX):c.4779C>T (p.Ala1593=)
NM_000489.6(ATRX):c.477del (p.Lys159fs) rs1603240572
NM_000489.6(ATRX):c.4785T>C (p.Cys1595=)
NM_000489.6(ATRX):c.4794T>G (p.Leu1598=)
NM_000489.6(ATRX):c.479G>A (p.Arg160His) rs2072039122
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.4825C>T (p.His1609Tyr)
NM_000489.6(ATRX):c.4826A>G (p.His1609Arg) rs122445093
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.4838T>C (p.Leu1613Ser) rs2148343760
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.4840T>C (p.Cys1614Arg) rs122445094
NM_000489.6(ATRX):c.485-11C>G
NM_000489.6(ATRX):c.485-15A>T
NM_000489.6(ATRX):c.485-1G>A rs2148657465
NM_000489.6(ATRX):c.485-2A>T
NM_000489.6(ATRX):c.485-4C>T
NM_000489.6(ATRX):c.485-7C>A rs1225852818
NM_000489.6(ATRX):c.485-7C>G rs1225852818
NM_000489.6(ATRX):c.4852G>C (p.Asp1618His)
NM_000489.6(ATRX):c.4853A>G (p.Asp1618Gly)
NM_000489.6(ATRX):c.4861A>G (p.Thr1621Ala)
NM_000489.6(ATRX):c.4865C>T (p.Ala1622Val) rs1135401793
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.489T>A (p.Asp163Glu)
NM_000489.6(ATRX):c.48G>A (p.Gln16=) rs2148752584
NM_000489.6(ATRX):c.4903A>T (p.Met1635Leu)
NM_000489.6(ATRX):c.4928A>C (p.Glu1643Ala)
NM_000489.6(ATRX):c.4929G>C (p.Glu1643Asp)
NM_000489.6(ATRX):c.4935A>G (p.Leu1645=)
NM_000489.6(ATRX):c.4943A>G (p.Asp1648Gly)
NM_000489.6(ATRX):c.4950G>T (p.Lys1650Asn) rs122445095
NM_000489.6(ATRX):c.4956+12T>G
NM_000489.6(ATRX):c.4956+12del
NM_000489.6(ATRX):c.4956+16T>A
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.4957-19C>G
NM_000489.6(ATRX):c.4957-4A>G rs1602979818
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.4967T>C (p.Leu1656Ser)
NM_000489.6(ATRX):c.4981C>T (p.Arg1661Cys)
NM_000489.6(ATRX):c.498T>C (p.His166=) rs2148657337
NM_000489.6(ATRX):c.5005C>T (p.Leu1669=)
NM_000489.6(ATRX):c.5007G>A (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.5039T>C (p.Ile1680Thr) rs1557106482
NM_000489.6(ATRX):c.5048A>G (p.Tyr1683Cys) rs1602979414
NM_000489.6(ATRX):c.5052G>A (p.Glu1684=)
NM_000489.6(ATRX):c.5065C>G (p.Leu1689Val)
NM_000489.6(ATRX):c.5067T>G (p.Leu1689=)
NM_000489.6(ATRX):c.5079G>A (p.Arg1693=) rs2148335743
NM_000489.6(ATRX):c.5080A>G (p.Asn1694Asp) rs2068193669
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.5124G>T (p.Leu1708Phe) rs1602978896
NM_000489.6(ATRX):c.5133A>T (p.Pro1711=) rs2148335082
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.5134+6G>C
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.5136C>T (p.Gly1712=)
NM_000489.6(ATRX):c.5137C>T (p.Pro1713Ser) rs2148272498
NM_000489.6(ATRX):c.513C>T (p.Cys171=) rs1441486930
NM_000489.6(ATRX):c.514A>G (p.Thr172Ala)
NM_000489.6(ATRX):c.5167A>G (p.Ile1723Val)
NM_000489.6(ATRX):c.5170C>T (p.Leu1724=)
NM_000489.6(ATRX):c.5212A>G (p.Ile1738Val) rs1057523890
NM_000489.6(ATRX):c.5220A>T (p.Ser1740=)
NM_000489.6(ATRX):c.5222G>A (p.Arg1741Lys) rs1448764008
NM_000489.6(ATRX):c.5225G>A (p.Arg1742Lys) rs122445104
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.525A>G (p.Gly175=)
NM_000489.6(ATRX):c.5262C>T (p.Asn1754=)
NM_000489.6(ATRX):c.5267T>C (p.Ile1756Thr) rs2067530352
NM_000489.6(ATRX):c.5271G>C (p.Glu1757Asp) rs141240580
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.5273-10T>A rs2148261114
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.5281A>G (p.Met1761Val) rs2148260943
NM_000489.6(ATRX):c.5289T>C (p.Asn1763=)
NM_000489.6(ATRX):c.5295C>T (p.Ile1765=)
NM_000489.6(ATRX):c.5302A>T (p.Asn1768Tyr)
NM_000489.6(ATRX):c.5325G>A (p.Glu1775=)
NM_000489.6(ATRX):c.5331G>A (p.Arg1777=) rs2148259996
NM_000489.6(ATRX):c.5339T>A (p.Phe1780Tyr)
NM_000489.6(ATRX):c.5350A>G (p.Ile1784Val)
NM_000489.6(ATRX):c.5368G>A (p.Ala1790Thr)
NM_000489.6(ATRX):c.536A>G (p.Asn179Ser) rs398123425
NM_000489.6(ATRX):c.5370A>G (p.Ala1790=)
NM_000489.6(ATRX):c.5377A>C (p.Thr1793Pro) rs1569531570
NM_000489.6(ATRX):c.5379C>T (p.Thr1793=)
NM_000489.6(ATRX):c.5385A>G (p.Val1795=)
NM_000489.6(ATRX):c.5388T>C (p.Asp1796=)
NM_000489.6(ATRX):c.5393G>T (p.Arg1798Ile)
NM_000489.6(ATRX):c.5405A>C (p.Lys1802Thr) rs1602876401
NM_000489.6(ATRX):c.5407C>T (p.Arg1803Cys) rs2148258208
NM_000489.6(ATRX):c.5416A>G (p.Ile1806Val) rs2067467967
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.5449-7A>G rs2067371776
NM_000489.6(ATRX):c.5449-9T>A rs2148245921
NM_000489.6(ATRX):c.5454A>G (p.Lys1818=)
NM_000489.6(ATRX):c.5461A>G (p.Thr1821Ala) rs2148245541
NM_000489.6(ATRX):c.5463A>T (p.Thr1821=) rs2148245476
NM_000489.6(ATRX):c.546A>T (p.Gln182His) rs375794120
NM_000489.6(ATRX):c.5472A>C (p.Thr1824=)
NM_000489.6(ATRX):c.551A>T (p.Asp184Val)
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.5536C>T (p.Leu1846Phe) rs1557097008
NM_000489.6(ATRX):c.5540A>G (p.Tyr1847Cys) rs1057521987
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.5565A>C (p.Thr1855=)
NM_000489.6(ATRX):c.5565A>G (p.Thr1855=) rs1557096967
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.5567G>A (p.Gly1856Asp)
NM_000489.6(ATRX):c.5573G>A (p.Gly1858Asp) rs1602739123
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.5579A>C (p.Asn1860Thr)
NM_000489.6(ATRX):c.559T>G (p.Tyr187Asp)
NM_000489.6(ATRX):c.563G>C (p.Arg188Thr)
NM_000489.6(ATRX):c.564A>G (p.Arg188=)
NM_000489.6(ATRX):c.5659T>G (p.Trp1887Gly) rs2066634036
NM_000489.6(ATRX):c.565C>T (p.His189Tyr) rs2148656473
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.5683A>G (p.Ser1895Gly) rs2066633572
NM_000489.6(ATRX):c.568C>G (p.Pro190Ala) rs122445103
NM_000489.6(ATRX):c.5695A>C (p.Lys1899Gln)
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>A
NM_000489.6(ATRX):c.5698-19G>C
NM_000489.6(ATRX):c.5698-7del rs781820607
NM_000489.6(ATRX):c.5698-7dup rs781820607
NM_000489.6(ATRX):c.569C>T (p.Pro190Leu) rs1057518708
NM_000489.6(ATRX):c.56A>G (p.His19Arg)
NM_000489.6(ATRX):c.5703T>C (p.Tyr1901=)
NM_000489.6(ATRX):c.5711A>G (p.Glu1904Gly) rs2066607432
NM_000489.6(ATRX):c.5718T>A (p.Ser1906Arg)
NM_000489.6(ATRX):c.5719A>G (p.Met1907Val) rs2066607060
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.5751A>T (p.Glu1917Asp) rs2066606140
NM_000489.6(ATRX):c.5772C>T (p.Ser1924=) rs2148148385
NM_000489.6(ATRX):c.5773G>A (p.Asp1925Asn)
NM_000489.6(ATRX):c.5786+10A>G rs2066603614
NM_000489.6(ATRX):c.5786+16T>G
NM_000489.6(ATRX):c.5786+19C>T
NM_000489.6(ATRX):c.5786+1del
NM_000489.6(ATRX):c.5786+3_5786+4insT
NM_000489.6(ATRX):c.5786+7C>G
NM_000489.6(ATRX):c.5787-13T>C
NM_000489.6(ATRX):c.5787-17dup
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.5787-24GTTT[6] rs782072699
NM_000489.6(ATRX):c.5787-6T>C
NM_000489.6(ATRX):c.5800G>A (p.Gly1934Arg)
NM_000489.6(ATRX):c.5803A>G (p.Lys1935Glu) rs2148145177
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.5825G>A (p.Ser1942Asn) rs2148144524
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.5870T>C (p.Val1957Ala)
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.5888G>A (p.Arg1963Gln)
NM_000489.6(ATRX):c.5895T>C (p.Gly1965=)
NM_000489.6(ATRX):c.5905A>C (p.Asn1969His)
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.5923A>G (p.Asn1975Asp)
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.5942T>C (p.Leu1981Ser)
NM_000489.6(ATRX):c.595-10C>T rs1368443603
NM_000489.6(ATRX):c.595-11T>C
NM_000489.6(ATRX):c.595-17del
NM_000489.6(ATRX):c.5951A>G (p.Glu1984Gly) rs2148140220
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.5957-15A>G
NM_000489.6(ATRX):c.5957-7T>G
NM_000489.6(ATRX):c.5957-9C>T rs375791318
NM_000489.6(ATRX):c.5957G>A (p.Ser1986Asn) rs2066370578
NM_000489.6(ATRX):c.5958T>C (p.Ser1986=) rs2148116529
NM_000489.6(ATRX):c.5967T>C (p.Thr1989=)
NM_000489.6(ATRX):c.5968TCT[2] (p.Ser1992del) rs782391479
NM_000489.6(ATRX):c.5976T>C (p.Ser1992=)
NM_000489.6(ATRX):c.6000C>T (p.Asp2000=)
NM_000489.6(ATRX):c.6003G>C (p.Trp2001Cys)
NM_000489.6(ATRX):c.6021A>G (p.Thr2007=)
NM_000489.6(ATRX):c.6026C>G (p.Ala2009Gly) rs1557082359
NM_000489.6(ATRX):c.6054G>C (p.Gly2018=)
NM_000489.6(ATRX):c.606G>A (p.Lys202=)
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.6099T>C (p.Ile2033=)
NM_000489.6(ATRX):c.60C>T (p.Asp20=)
NM_000489.6(ATRX):c.6104A>G (p.Asp2035Gly) rs122445096
NM_000489.6(ATRX):c.6104A>T (p.Asp2035Val) rs122445096
NM_000489.6(ATRX):c.6110+12A>G
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.6111-9dup rs1557079294
NM_000489.6(ATRX):c.6122G>A (p.Ser2041Asn) rs1060499658
NM_000489.6(ATRX):c.6125A>G (p.Gln2042Arg)
NM_000489.6(ATRX):c.6127T>C (p.Ser2043Pro)
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.6157T>G (p.Phe2053Val) rs2066171841
NM_000489.6(ATRX):c.6183G>A (p.Lys2061=)
NM_000489.6(ATRX):c.6186A>G (p.Thr2062=)
NM_000489.6(ATRX):c.618T>C (p.Ser206=)
NM_000489.6(ATRX):c.6198T>C (p.Asp2066=)
NM_000489.6(ATRX):c.6199A>C (p.Lys2067Gln)
NM_000489.6(ATRX):c.6200A>T (p.Lys2067Ile)
NM_000489.6(ATRX):c.6208A>G (p.Ile2070Val)
NM_000489.6(ATRX):c.6217+11A>C rs2148088106
NM_000489.6(ATRX):c.6217+12A>G rs2148088080
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.6227A>C (p.Lys2076Thr)
NM_000489.6(ATRX):c.6235C>T (p.Arg2079Ter) rs2148020083
NM_000489.6(ATRX):c.6241A>T (p.Ile2081Phe)
NM_000489.6(ATRX):c.6243T>A (p.Ile2081=) rs2148019980
NM_000489.6(ATRX):c.6250T>C (p.Tyr2084His) rs122445097
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.6254G>T (p.Arg2085Leu) rs1057517948
NM_000489.6(ATRX):c.6256T>A (p.Leu2086Ile)
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.6309T>C (p.Asn2103=)
NM_000489.6(ATRX):c.6313G>A (p.Glu2105Lys)
NM_000489.6(ATRX):c.6326+12T>G
NM_000489.6(ATRX):c.6326+19A>G rs2065526358
NM_000489.6(ATRX):c.6326+3A>G
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.6331C>T (p.Arg2111Ter)
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.6379G>A (p.Val2127Ile) rs1602536860
NM_000489.6(ATRX):c.6386C>G (p.Ala2129Gly)
NM_000489.6(ATRX):c.6392G>A (p.Arg2131Gln) rs122445101
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.6458G>A (p.Arg2153His)
NM_000489.6(ATRX):c.6473A>G (p.Lys2158Arg) rs2147947274
NM_000489.6(ATRX):c.6483T>C (p.Tyr2161=) rs959260382
NM_000489.6(ATRX):c.6484G>A (p.Val2162Ile) rs1569523175
NM_000489.6(ATRX):c.6487T>C (p.Tyr2163His)
NM_000489.6(ATRX):c.6488A>G (p.Tyr2163Cys) rs122445098
NM_000489.6(ATRX):c.6495C>T (p.Phe2165=)
NM_000489.6(ATRX):c.6496T>C (p.Leu2166=) rs2147946693
NM_000489.6(ATRX):c.649G>A (p.Asp217Asn) rs2071472042
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+17C>A
NM_000489.6(ATRX):c.6504+18T>C
NM_000489.6(ATRX):c.6504+3A>G
NM_000489.6(ATRX):c.6504+5_6504+14del rs2064891953
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.6508A>G (p.Thr2170Ala)
NM_000489.6(ATRX):c.6528T>C (p.Tyr2176=) rs2147942097
NM_000489.6(ATRX):c.6532C>T (p.Arg2178Trp) rs1057517707
NM_000489.6(ATRX):c.6534G>T (p.Arg2178=) rs782771702
NM_000489.6(ATRX):c.654A>G (p.Glu218=) rs782378258
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.6555G>T (p.Leu2185=) rs781823496
NM_000489.6(ATRX):c.6576G>A (p.Gln2192=)
NM_000489.6(ATRX):c.658T>C (p.Cys220Arg)
NM_000489.6(ATRX):c.659G>A (p.Cys220Tyr) rs122445111
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.661A>C (p.Arg221=)
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.662+8A>T
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.6651C>A (p.Asp2217Glu) rs2147941386
NM_000489.6(ATRX):c.6653C>T (p.Pro2218Leu) rs2147941337
NM_000489.6(ATRX):c.6659C>T (p.Ser2220Leu)
NM_000489.6(ATRX):c.6665AGA[3] (p.Lys2225del)
NM_000489.6(ATRX):c.6672G>A (p.Lys2224=) rs2147941252
NM_000489.6(ATRX):c.6674A>G (p.Lys2225Arg) rs2064848419
NM_000489.6(ATRX):c.667T>C (p.Cys223Arg)
NM_000489.6(ATRX):c.668G>C (p.Cys223Ser)
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+15A>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.6706A>T (p.Ile2236Leu)
NM_000489.6(ATRX):c.6714A>G (p.Ala2238=)
NM_000489.6(ATRX):c.6717G>A (p.Glu2239=)
NM_000489.6(ATRX):c.6718C>T (p.Leu2240Phe) rs199474698
NM_000489.6(ATRX):c.671C>T (p.Ala224Val)
NM_000489.6(ATRX):c.6725A>G (p.Gln2242Arg)
NM_000489.6(ATRX):c.6730C>T (p.His2244Tyr) rs1569515985
NM_000489.6(ATRX):c.6733A>C (p.Lys2245Gln)
NM_000489.6(ATRX):c.6742A>G (p.Ile2248Val)
NM_000489.6(ATRX):c.6743T>C (p.Ile2248Thr) rs2147761759
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.6768T>C (p.Ser2256=)
NM_000489.6(ATRX):c.6786A>G (p.Glu2262=) rs2147760587
NM_000489.6(ATRX):c.678T>G (p.Gly226=)
NM_000489.6(ATRX):c.6793G>A (p.Glu2265Lys)
NM_000489.6(ATRX):c.6794A>G (p.Glu2265Gly) rs1557042387
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+5T>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.6850-19A>G rs2063260471
NM_000489.6(ATRX):c.6850-4T>C
NM_000489.6(ATRX):c.6850-5T>G
NM_000489.6(ATRX):c.6850-8G>T
NM_000489.6(ATRX):c.6850-9dup
NM_000489.6(ATRX):c.6853C>T (p.Leu2285=)
NM_000489.6(ATRX):c.6859A>G (p.Met2287Val)
NM_000489.6(ATRX):c.6862C>T (p.Arg2288Cys)
NM_000489.6(ATRX):c.6863G>A (p.Arg2288His) rs1135401774
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.6896C>T (p.Pro2299Leu)
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.6943G>A (p.Ala2315Thr) rs2063256154
NM_000489.6(ATRX):c.6948G>A (p.Leu2316=)
NM_000489.6(ATRX):c.6959G>A (p.Ser2320Asn) rs2147748165
NM_000489.6(ATRX):c.6960T>C (p.Ser2320=) rs2147748110
NM_000489.6(ATRX):c.6961A>G (p.Asn2321Asp) rs2147748088
NM_000489.6(ATRX):c.6962A>G (p.Asn2321Ser)
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+6T>C
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.6976-2A>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.6978C>A (p.Asp2326Glu) rs1569515631
NM_000489.6(ATRX):c.6983_6985del (p.Ile2328del)
NM_000489.6(ATRX):c.69A>T (p.Ala23=) rs2148752498
NM_000489.6(ATRX):c.7017A>G (p.Thr2339=)
NM_000489.6(ATRX):c.7023T>C (p.Ser2341=) rs2063229451
NM_000489.6(ATRX):c.7024G>A (p.Val2342Met)
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.7066G>A (p.Ala2356Thr) rs1339589345
NM_000489.6(ATRX):c.7071+10T>C
NM_000489.6(ATRX):c.7071+12G>A
NM_000489.6(ATRX):c.7071+16A>G
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.7084A>G (p.Met2362Val) rs2147738058
NM_000489.6(ATRX):c.7096G>T (p.Glu2366Ter)
NM_000489.6(ATRX):c.70C>T (p.His24Tyr) rs1191670776
NM_000489.6(ATRX):c.7117G>T (p.Ala2373Ser)
NM_000489.6(ATRX):c.7119A>G (p.Ala2373=)
NM_000489.6(ATRX):c.711T>C (p.Asn237=) rs782710787
NM_000489.6(ATRX):c.711T>G (p.Asn237Lys)
NM_000489.6(ATRX):c.7139A>T (p.Gln2380Leu)
NM_000489.6(ATRX):c.7141G>T (p.Glu2381Ter) rs1557041077
NM_000489.6(ATRX):c.7143G>A (p.Glu2381=) rs2147737610
NM_000489.6(ATRX):c.7156C>T (p.Arg2386Ter) rs122445099
NM_000489.6(ATRX):c.7158A>G (p.Arg2386=) rs1557041056
NM_000489.6(ATRX):c.715T>C (p.Phe239Leu) rs2071445748
NM_000489.6(ATRX):c.7162G>T (p.Glu2388Ter) rs122445100
NM_000489.6(ATRX):c.7166C>T (p.Ala2389Val)
NM_000489.6(ATRX):c.7175A>G (p.Asn2392Ser)
NM_000489.6(ATRX):c.7188A>G (p.Thr2396=)
NM_000489.6(ATRX):c.7191A>G (p.Lys2397=)
NM_000489.6(ATRX):c.7192C>T (p.Gln2398Ter) rs1569515457
NM_000489.6(ATRX):c.7200+10C>A rs781824017
NM_000489.6(ATRX):c.7200+10C>G 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.7201-17C>G
NM_000489.6(ATRX):c.7201-18C>A
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.7205del (p.Ile2402fs) rs1569513017
NM_000489.6(ATRX):c.7218G>A (p.Gln2406=)
NM_000489.6(ATRX):c.7220G>A (p.Arg2407Gln)
NM_000489.6(ATRX):c.7242C>T (p.Leu2414=) rs782246110
NM_000489.6(ATRX):c.7248G>A (p.Gln2416=)
NM_000489.6(ATRX):c.7260GCA[1] (p.Gln2425del) rs2147651554
NM_000489.6(ATRX):c.7266A>G (p.Gln2422=) rs2147651510
NM_000489.6(ATRX):c.7268A>C (p.Gln2423Pro)
NM_000489.6(ATRX):c.7278G>A (p.Met2426Ile) rs2062761742
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.729C>G (p.Cys243Trp) rs1057524153
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.7335C>A (p.Ile2445=)
NM_000489.6(ATRX):c.7336A>C (p.Met2446Leu)
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>G (p.Asn2450Lys) rs2147648778
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.7366dup (p.Met2456fs)
NM_000489.6(ATRX):c.7367T>C (p.Met2456Thr) rs2147648215
NM_000489.6(ATRX):c.7367T>G (p.Met2456Arg)
NM_000489.6(ATRX):c.736C>T (p.Arg246Cys) rs122445105
NM_000489.6(ATRX):c.7373G>T (p.Gly2458Val)
NM_000489.6(ATRX):c.737G>T (p.Arg246Leu) rs1603226766
NM_000489.6(ATRX):c.7384C>A (p.Pro2462Thr)
NM_000489.6(ATRX):c.7390G>A (p.Ala2464Thr)
NM_000489.6(ATRX):c.7400T>C (p.Met2467Thr) rs782631992
NM_000489.6(ATRX):c.7410A>G (p.Pro2470=)
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.7432C>T (p.Pro2478Ser) rs199543136
NM_000489.6(ATRX):c.7436T>C (p.Met2479Thr)
NM_000489.6(ATRX):c.7454G>A (p.Gly2485Glu)
NM_000489.6(ATRX):c.7468A>T (p.Lys2490Ter)
NM_000489.6(ATRX):c.7472del (p.Lys2490_Ser2491insTer) rs2147645829
NM_000489.6(ATRX):c.751A>G (p.Lys251Glu) rs1569539477
NM_000489.6(ATRX):c.756G>A (p.Glu252=)
NM_000489.6(ATRX):c.758T>C (p.Leu253Ser)
NM_000489.6(ATRX):c.75A>G (p.Ser25=) rs2148752439
NM_000489.6(ATRX):c.763A>G (p.Thr255Ala)
NM_000489.6(ATRX):c.765A>G (p.Thr255=)
NM_000489.6(ATRX):c.766A>G (p.Ile256Val)
NM_000489.6(ATRX):c.77C>A (p.Ser26Ter) rs2073481839
NM_000489.6(ATRX):c.783C>G (p.Asn261Lys)
NM_000489.6(ATRX):c.796T>C (p.Tyr266His) rs2071441898
NM_000489.6(ATRX):c.797A>G (p.Tyr266Cys)
NM_000489.6(ATRX):c.798C>G (p.Tyr266Ter)
NM_000489.6(ATRX):c.806A>G (p.His269Arg)
NM_000489.6(ATRX):c.809C>T (p.Pro270Leu) rs2148637532
NM_000489.6(ATRX):c.813G>A (p.Glu271=) rs1557142741
NM_000489.6(ATRX):c.813G>T (p.Glu271Asp)
NM_000489.6(ATRX):c.824A>G (p.Asp275Gly)
NM_000489.6(ATRX):c.829G>C (p.Val277Leu) rs1569539465
NM_000489.6(ATRX):c.839G>A (p.Cys280Tyr) rs2071439399
NM_000489.6(ATRX):c.841A>G (p.Asn281Asp)
NM_000489.6(ATRX):c.855G>A (p.Glu285=)
NM_000489.6(ATRX):c.861A>G (p.Leu287=)
NM_000489.6(ATRX):c.869T>C (p.Leu290Ser)
NM_000489.6(ATRX):c.884AGA[2] (p.Lys297del) rs1064795918
NM_000489.6(ATRX):c.902A>G (p.Asp301Gly)
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.958A>C (p.Thr320Pro) rs2071431525
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.983A>G (p.Glu328Gly) rs1557142526
NM_000489.6(ATRX):c.987G>A (p.Lys329=) rs2148633084
NM_000489.6(ATRX):c.98G>A (p.Ser33Asn)
NM_000489.6(ATRX):c.991T>G (p.Leu331Val)
NM_000489.6(ATRX):c.992T>C (p.Leu331Ser) rs2148633005
NM_000489.6(ATRX):c.995A>G (p.Asp332Gly)
NM_000489.6(ATRX):c.999T>C (p.Asp333=) rs2071429803

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