ClinVar Miner

List of variants studied for Alpha thalassemia-X-linked intellectual disability syndrome by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1870
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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.12G>A (p.Glu4=) rs782765957 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.16A>G (p.Met6Val) rs782080475 0.00001
NM_000489.6(ATRX):c.1709A>G (p.Asn570Ser) rs782517450 0.00001
NM_000489.6(ATRX):c.1717G>T (p.Gly573Cys) rs782746892 0.00001
NM_000489.6(ATRX):c.1755A>G (p.Glu585=) rs2071369876 0.00001
NM_000489.6(ATRX):c.177C>T (p.Asn59=) rs782250182 0.00001
NM_000489.6(ATRX):c.1814G>A (p.Cys605Tyr) rs1205903424 0.00001
NM_000489.6(ATRX):c.189+11T>C rs905685078 0.00001
NM_000489.6(ATRX):c.1894G>A (p.Glu632Lys) rs1557140572 0.00001
NM_000489.6(ATRX):c.18G>A (p.Met6Ile) rs2076734106 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.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.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.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.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.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.(?_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.(?_76888675)_(77264780_?)dup
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_?)dup
NC_000023.10:g.(?_77041448)_(77041507_?)dup
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.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.1050A>G (p.Lys350=)
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.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.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.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.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.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.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.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.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.134-9C>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.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.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.1402C>G (p.Gln468Glu)
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.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.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.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.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.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.15C>G (p.Pro5=) rs1557207602
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.1643G>A (p.Gly548Asp)
NM_000489.6(ATRX):c.1656T>C (p.Thr552=) rs781971866
NM_000489.6(ATRX):c.1662A>G (p.Gln554=) rs2148617521
NM_000489.6(ATRX):c.1665A>G (p.Glu555=)
NM_000489.6(ATRX):c.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.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.1760A>G (p.Tyr587Cys)
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.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.190-8A>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.1923A>G (p.Glu641=)
NM_000489.6(ATRX):c.1929A>G (p.Glu643=)
NM_000489.6(ATRX):c.1932T>G (p.Val644=)
NM_000489.6(ATRX):c.1938A>G (p.Leu646=) rs2148611303
NM_000489.6(ATRX):c.1939C>A (p.Leu647Ile)
NM_000489.6(ATRX):c.1948G>C (p.Glu650Gln)
NM_000489.6(ATRX):c.194C>A (p.Thr65Asn)
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.1A>G (p.Met1Val) rs2076735328
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.2002A>C (p.Thr668Pro)
NM_000489.6(ATRX):c.2005G>C (p.Glu669Gln)
NM_000489.6(ATRX):c.2019A>G (p.Val673=)
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.204A>G (p.Ser68=) rs2072255187
NM_000489.6(ATRX):c.2058G>A (p.Lys686=)
NM_000489.6(ATRX):c.2082A>T (p.Pro694=)
NM_000489.6(ATRX):c.2085G>A (p.Val695=)
NM_000489.6(ATRX):c.2085G>C (p.Val695=) rs2148607292
NM_000489.6(ATRX):c.21-10G>A
NM_000489.6(ATRX):c.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.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.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.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.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.2334A>G (p.Lys778=)
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.2355A>C (p.Thr785=)
NM_000489.6(ATRX):c.2355A>G (p.Thr785=)
NM_000489.6(ATRX):c.2361C>A (p.Gly787=) rs2148599810
NM_000489.6(ATRX):c.2377A>G (p.Lys793Glu)
NM_000489.6(ATRX):c.2379A>T (p.Lys793Asn)
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.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.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.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.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.2565C>T (p.His855=) rs2148594303
NM_000489.6(ATRX):c.2566A>G (p.Ser856Gly)
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.2625A>G (p.Ser875=)
NM_000489.6(ATRX):c.2627C>G (p.Ser876Cys)
NM_000489.6(ATRX):c.2633A>G (p.Asp878Gly) rs2071285505
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>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.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.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.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>C (p.Lys1030Asn)
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.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.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.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.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.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.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.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.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.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.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.3606C>A (p.Ser1202=)
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.3654G>A (p.Glu1218=)
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.371-4C>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+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.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.3933A>G (p.Pro1311=) rs2148496532
NM_000489.6(ATRX):c.393G>A (p.Glu131=)
NM_000489.6(ATRX):c.3943+11C>T
NM_000489.6(ATRX):c.3943+14A>G rs2148495994
NM_000489.6(ATRX):c.3943+17G>T
NM_000489.6(ATRX):c.3943+18_3943+20del
NM_000489.6(ATRX):c.3944-4T>C rs2148490315
NM_000489.6(ATRX):c.3944-4T>G rs2148490315
NM_000489.6(ATRX):c.3944-7C>T rs2070047774
NM_000489.6(ATRX):c.3950A>C (p.Lys1317Thr)
NM_000489.6(ATRX):c.3955C>G (p.Gln1319Glu)
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.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.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.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+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.4215-4T>A rs2148451946
NM_000489.6(ATRX):c.4215-5G>C rs111833322
NM_000489.6(ATRX):c.4215-9T>A
NM_000489.6(ATRX):c.4215G>A (p.Arg1405=)
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.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.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.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.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.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.4401T>C (p.Asn1467=)
NM_000489.6(ATRX):c.4422A>C (p.Gly1474=) rs1603084380
NM_000489.6(ATRX):c.4422A>G (p.Gly1474=) rs1603084380
NM_000489.6(ATRX):c.4452T>C (p.Leu1484=)
NM_000489.6(ATRX):c.4458T>C (p.Asp1486=) rs2148437345
NM_000489.6(ATRX):c.4464A>G (p.Lys1488=)
NM_000489.6(ATRX):c.4473A>G (p.Thr1491=) rs1603084227
NM_000489.6(ATRX):c.4485T>C (p.Asn1495=) rs2148436888
NM_000489.6(ATRX):c.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>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.4558-8del
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.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.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.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.485-11C>G
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>G rs1225852818
NM_000489.6(ATRX):c.4852G>C (p.Asp1618His)
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.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.4956+12del
NM_000489.6(ATRX):c.4956+17G>A
NM_000489.6(ATRX):c.4956+18T>A
NM_000489.6(ATRX):c.4956+19T>C
NM_000489.6(ATRX):c.4956+19T>G rs2148340621
NM_000489.6(ATRX):c.4957-17T>G
NM_000489.6(ATRX):c.4957-5A>C
NM_000489.6(ATRX):c.4957-5A>G rs2068197953
NM_000489.6(ATRX):c.4957-8C>T rs2148338815
NM_000489.6(ATRX):c.495T>C (p.Leu165=) rs2148657392
NM_000489.6(ATRX):c.498T>C (p.His166=) rs2148657337
NM_000489.6(ATRX):c.5005C>T (p.Leu1669=)
NM_000489.6(ATRX):c.5019A>G (p.Gln1673=) rs2148336845
NM_000489.6(ATRX):c.5025T>C (p.Asp1675=) rs2148336667
NM_000489.6(ATRX):c.5052G>A (p.Glu1684=)
NM_000489.6(ATRX):c.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.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.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.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.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.5273-19A>T
NM_000489.6(ATRX):c.5273-4T>G
NM_000489.6(ATRX):c.5274T>C (p.Tyr1758=) rs2148261058
NM_000489.6(ATRX):c.5277T>C (p.His1759=) rs2148261027
NM_000489.6(ATRX):c.5289T>C (p.Asn1763=)
NM_000489.6(ATRX):c.5325G>A (p.Glu1775=)
NM_000489.6(ATRX):c.5331G>A (p.Arg1777=) rs2148259996
NM_000489.6(ATRX):c.5368G>A (p.Ala1790Thr)
NM_000489.6(ATRX):c.5370A>G (p.Ala1790=)
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.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.5449-9T>A rs2148245921
NM_000489.6(ATRX):c.5454A>G (p.Lys1818=)
NM_000489.6(ATRX):c.5463A>T (p.Thr1821=) rs2148245476
NM_000489.6(ATRX):c.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.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.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.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.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.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+3_5786+4insT
NM_000489.6(ATRX):c.5786+7C>G
NM_000489.6(ATRX):c.5787-13T>C
NM_000489.6(ATRX):c.5787-20G>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.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.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.595-17del
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.5968TCT[2] (p.Ser1992del) rs782391479
NM_000489.6(ATRX):c.5C>G (p.Thr2Ser)
NM_000489.6(ATRX):c.6000C>T (p.Asp2000=)
NM_000489.6(ATRX):c.6021A>G (p.Thr2007=)
NM_000489.6(ATRX):c.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.6099T>C (p.Ile2033=)
NM_000489.6(ATRX):c.60C>T (p.Asp20=)
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.6125A>G (p.Gln2042Arg)
NM_000489.6(ATRX):c.6129C>T (p.Ser2043=) rs2066172590
NM_000489.6(ATRX):c.6145T>C (p.Leu2049=) rs2148090116
NM_000489.6(ATRX):c.6153A>G (p.Glu2051=) rs2148089867
NM_000489.6(ATRX):c.6183G>A (p.Lys2061=)
NM_000489.6(ATRX):c.6186A>G (p.Thr2062=)
NM_000489.6(ATRX):c.6198T>C (p.Asp2066=)
NM_000489.6(ATRX):c.6200A>T (p.Lys2067Ile)
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.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.6254G>A (p.Arg2085His) rs1057517948
NM_000489.6(ATRX):c.6267C>T (p.Ser2089=) rs2148019844
NM_000489.6(ATRX):c.6276A>C (p.Ala2092=) rs2148019717
NM_000489.6(ATRX):c.6326+12T>G
NM_000489.6(ATRX):c.6326+19A>G rs2065526358
NM_000489.6(ATRX):c.6327-16A>T
NM_000489.6(ATRX):c.6327-4T>C
NM_000489.6(ATRX):c.6327-9C>T
NM_000489.6(ATRX):c.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.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.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.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.6609G>A (p.Glu2203=) rs1602531500
NM_000489.6(ATRX):c.6618A>G (p.Glu2206=) rs2064850147
NM_000489.6(ATRX):c.662+12A>G
NM_000489.6(ATRX):c.662+16G>A
NM_000489.6(ATRX):c.662+18G>A rs2071469895
NM_000489.6(ATRX):c.662+7A>C rs2148642230
NM_000489.6(ATRX):c.6621T>C (p.Leu2207=)
NM_000489.6(ATRX):c.663-16C>A rs781981978
NM_000489.6(ATRX):c.663-18dup
NM_000489.6(ATRX):c.6645A>G (p.Leu2215=)
NM_000489.6(ATRX):c.6648T>C (p.Asp2216=)
NM_000489.6(ATRX):c.6651C>A (p.Asp2217Glu) rs2147941386
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.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+7A>T
NM_000489.6(ATRX):c.6699+8T>C
NM_000489.6(ATRX):c.669T>C (p.Cys223=) rs2148640448
NM_000489.6(ATRX):c.6714A>G (p.Ala2238=)
NM_000489.6(ATRX):c.6717G>A (p.Glu2239=)
NM_000489.6(ATRX):c.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.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.6786A>G (p.Glu2262=) rs2147760587
NM_000489.6(ATRX):c.678T>G (p.Gly226=)
NM_000489.6(ATRX):c.6811A>C (p.Arg2271=) rs122445112
NM_000489.6(ATRX):c.6819A>G (p.Ala2273=)
NM_000489.6(ATRX):c.6840A>C (p.Ala2280=)
NM_000489.6(ATRX):c.6849+10G>A rs2147758557
NM_000489.6(ATRX):c.6849+13A>G
NM_000489.6(ATRX):c.6849+20T>A
NM_000489.6(ATRX):c.6849+20T>C
NM_000489.6(ATRX):c.6849+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.6850-8G>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.6976-4C>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.6C>G (p.Thr2=)
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.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.70C>T (p.His24Tyr) rs1191670776
NM_000489.6(ATRX):c.7119A>G (p.Ala2373=)
NM_000489.6(ATRX):c.711T>C (p.Asn237=) rs782710787
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.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.7200+10C>A rs781824017
NM_000489.6(ATRX):c.7200+14C>T
NM_000489.6(ATRX):c.7200+19_7200+22del rs782698877
NM_000489.6(ATRX):c.7200+9del rs781816667
NM_000489.6(ATRX):c.7201-14dup rs782152710
NM_000489.6(ATRX):c.7201-4A>T rs782317502
NM_000489.6(ATRX):c.7201-8C>A rs2062764325
NM_000489.6(ATRX):c.7201-9T>C
NM_000489.6(ATRX):c.7218G>A (p.Gln2406=)
NM_000489.6(ATRX):c.7242C>T (p.Leu2414=) rs782246110
NM_000489.6(ATRX):c.7248G>A (p.Gln2416=)
NM_000489.6(ATRX):c.7260GCA[1] (p.Gln2425del) rs2147651554
NM_000489.6(ATRX):c.7266A>G (p.Gln2422=) rs2147651510
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.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.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.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.756G>A (p.Glu252=)
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.783C>G (p.Asn261Lys)
NM_000489.6(ATRX):c.806A>G (p.His269Arg)
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.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.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.999T>C (p.Asp333=) rs2071429803

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.