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.4120+4A>C
|
rs200420513
|
0.00046
|
NM_000489.6(ATRX):c.5968T>A (p.Ser1990Thr)
|
rs142180002
|
0.00024
|
NM_000489.6(ATRX):c.831C>T (p.Val277=)
|
rs142561199
|
0.00010
|
NM_000489.6(ATRX):c.3065G>A (p.Arg1022Gln)
|
rs781811015
|
0.00009
|
NM_000489.6(ATRX):c.1868A>G (p.Lys623Arg)
|
rs145678415
|
0.00008
|
NM_000489.6(ATRX):c.4810-3T>C
|
rs370596323
|
0.00008
|
NM_000489.6(ATRX):c.7435A>G (p.Met2479Val)
|
rs200478641
|
0.00008
|
NM_000489.6(ATRX):c.1168C>T (p.Arg390Cys)
|
rs150484080
|
0.00007
|
NM_000489.6(ATRX):c.2806G>C (p.Val936Leu)
|
rs149232501
|
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.2312C>T (p.Ala771Val)
|
rs376906761
|
0.00006
|
NM_000489.6(ATRX):c.4224G>A (p.Lys1408=)
|
rs781984385
|
0.00006
|
NM_000489.6(ATRX):c.1478A>G (p.His493Arg)
|
rs947189709
|
0.00005
|
NM_000489.6(ATRX):c.6110+15A>G
|
rs1309299805
|
0.00005
|
NM_000489.6(ATRX):c.7201-4A>G
|
rs782317502
|
0.00005
|
NM_000489.6(ATRX):c.1438A>G (p.Thr480Ala)
|
rs587780284
|
0.00004
|
NM_000489.6(ATRX):c.1804G>A (p.Gly602Ser)
|
rs886044864
|
0.00004
|
NM_000489.6(ATRX):c.3091G>A (p.Gly1031Ser)
|
rs782781078
|
0.00004
|
NM_000489.6(ATRX):c.5884T>A (p.Ser1962Thr)
|
rs398123426
|
0.00004
|
NM_000489.6(ATRX):c.7439G>A (p.Arg2480Lys)
|
rs369871569
|
0.00004
|
NM_000489.6(ATRX):c.1480A>G (p.Lys494Glu)
|
rs1394070657
|
0.00003
|
NM_000489.6(ATRX):c.2150C>T (p.Pro717Leu)
|
rs372617572
|
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.1130C>T (p.Ala377Val)
|
rs781955237
|
0.00002
|
NM_000489.6(ATRX):c.1262A>G (p.Asp421Gly)
|
rs782817063
|
0.00002
|
NM_000489.6(ATRX):c.1474G>A (p.Glu492Lys)
|
rs1418531949
|
0.00002
|
NM_000489.6(ATRX):c.2815G>C (p.Val939Leu)
|
rs149195735
|
0.00002
|
NM_000489.6(ATRX):c.2907A>C (p.Leu969=)
|
rs782330959
|
0.00002
|
NM_000489.6(ATRX):c.2953A>G (p.Ser985Gly)
|
rs782424160
|
0.00002
|
NM_000489.6(ATRX):c.3848A>G (p.Asn1283Ser)
|
rs201588422
|
0.00002
|
NM_000489.6(ATRX):c.4070A>G (p.Lys1357Arg)
|
rs1064796812
|
0.00002
|
NM_000489.6(ATRX):c.6207T>C (p.Leu2069=)
|
rs369953134
|
0.00002
|
NM_000489.6(ATRX):c.926A>G (p.Tyr309Cys)
|
rs782058125
|
0.00002
|
NM_000489.6(ATRX):c.1236C>A (p.Asp412Glu)
|
rs951634317
|
0.00001
|
NM_000489.6(ATRX):c.1273A>C (p.Lys425Gln)
|
rs782508808
|
0.00001
|
NM_000489.6(ATRX):c.139A>G (p.Ile47Val)
|
rs782584831
|
0.00001
|
NM_000489.6(ATRX):c.1439C>T (p.Thr480Ile)
|
rs782751824
|
0.00001
|
NM_000489.6(ATRX):c.1608G>T (p.Met536Ile)
|
rs1057518436
|
0.00001
|
NM_000489.6(ATRX):c.1894G>A (p.Glu632Lys)
|
rs1557140572
|
0.00001
|
NM_000489.6(ATRX):c.2066A>G (p.Gln689Arg)
|
rs929951326
|
0.00001
|
NM_000489.6(ATRX):c.2116A>T (p.Ser706Cys)
|
rs918710917
|
0.00001
|
NM_000489.6(ATRX):c.250T>G (p.Ser84Ala)
|
rs1569540556
|
0.00001
|
NM_000489.6(ATRX):c.2617G>C (p.Glu873Gln)
|
rs967071645
|
0.00001
|
NM_000489.6(ATRX):c.2692G>C (p.Asp898His)
|
rs781903868
|
0.00001
|
NM_000489.6(ATRX):c.2744G>C (p.Ser915Thr)
|
rs782427910
|
0.00001
|
NM_000489.6(ATRX):c.2782G>C (p.Glu928Gln)
|
rs797044792
|
0.00001
|
NM_000489.6(ATRX):c.278A>T (p.Asp93Val)
|
rs1064796774
|
0.00001
|
NM_000489.6(ATRX):c.2875G>T (p.Asp959Tyr)
|
rs1057523431
|
0.00001
|
NM_000489.6(ATRX):c.3270G>C (p.Glu1090Asp)
|
rs781992894
|
0.00001
|
NM_000489.6(ATRX):c.3287T>G (p.Leu1096Trp)
|
rs1337990307
|
0.00001
|
NM_000489.6(ATRX):c.3395T>C (p.Ile1132Thr)
|
rs587780285
|
0.00001
|
NM_000489.6(ATRX):c.3421A>C (p.Ser1141Arg)
|
rs1178889640
|
0.00001
|
NM_000489.6(ATRX):c.3437C>A (p.Thr1146Asn)
|
rs368828845
|
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.3649G>C (p.Gly1217Arg)
|
rs781917332
|
0.00001
|
NM_000489.6(ATRX):c.3655G>A (p.Gly1219Arg)
|
rs1057524797
|
0.00001
|
NM_000489.6(ATRX):c.3676A>C (p.Ile1226Leu)
|
rs1557136863
|
0.00001
|
NM_000489.6(ATRX):c.3701T>G (p.Val1234Gly)
|
rs782816523
|
0.00001
|
NM_000489.6(ATRX):c.4015A>G (p.Arg1339Gly)
|
rs782438788
|
0.00001
|
NM_000489.6(ATRX):c.4201C>T (p.Arg1401Trp)
|
rs1557119999
|
0.00001
|
NM_000489.6(ATRX):c.4249C>T (p.Arg1417Trp)
|
rs1557118764
|
0.00001
|
NM_000489.6(ATRX):c.4317+8T>C
|
rs2069418640
|
0.00001
|
NM_000489.6(ATRX):c.4905G>T (p.Met1635Ile)
|
rs1045875195
|
0.00001
|
NM_000489.6(ATRX):c.4956+3A>G
|
rs1434725771
|
0.00001
|
NM_000489.6(ATRX):c.5068G>A (p.Ala1690Thr)
|
rs2068194249
|
0.00001
|
NM_000489.6(ATRX):c.6223G>A (p.Gly2075Arg)
|
rs1440854109
|
0.00001
|
NM_000489.6(ATRX):c.6281C>T (p.Ser2094Leu)
|
rs782019900
|
0.00001
|
NM_000489.6(ATRX):c.631C>T (p.Arg211Cys)
|
rs782241890
|
0.00001
|
NM_000489.6(ATRX):c.847G>A (p.Val283Ile)
|
rs1057522580
|
0.00001
|
NM_000489.6(ATRX):c.1007C>T (p.Ser336Phe)
|
|
|
NM_000489.6(ATRX):c.1043T>C (p.Val348Ala)
|
rs975407914
|
|
NM_000489.6(ATRX):c.1117T>C (p.Phe373Leu)
|
|
|
NM_000489.6(ATRX):c.1157C>G (p.Ala386Gly)
|
|
|
NM_000489.6(ATRX):c.1187A>G (p.Lys396Arg)
|
|
|
NM_000489.6(ATRX):c.1196T>G (p.Leu399Trp)
|
rs2148628404
|
|
NM_000489.6(ATRX):c.1212G>C (p.Lys404Asn)
|
rs2071413817
|
|
NM_000489.6(ATRX):c.1222G>A (p.Ala408Thr)
|
rs2148627870
|
|
NM_000489.6(ATRX):c.1252C>G (p.Arg418Gly)
|
rs1057523785
|
|
NM_000489.6(ATRX):c.1276G>A (p.Glu426Lys)
|
|
|
NM_000489.6(ATRX):c.1309G>A (p.Ala437Thr)
|
|
|
NM_000489.6(ATRX):c.1322C>G (p.Thr441Arg)
|
rs2148625660
|
|
NM_000489.6(ATRX):c.134A>T (p.Asp45Val)
|
rs1557151500
|
|
NM_000489.6(ATRX):c.1446A>G (p.Glu482=)
|
rs886044778
|
|
NM_000489.6(ATRX):c.1507C>G (p.Gln503Glu)
|
|
|
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.1556C>A (p.Ser519Tyr)
|
rs2148619839
|
|
NM_000489.6(ATRX):c.1595T>C (p.Leu532Pro)
|
rs782509149
|
|
NM_000489.6(ATRX):c.1598A>T (p.Glu533Val)
|
|
|
NM_000489.6(ATRX):c.1601C>G (p.Thr534Ser)
|
|
|
NM_000489.6(ATRX):c.164A>G (p.Asp55Gly)
|
|
|
NM_000489.6(ATRX):c.1684A>G (p.Lys562Glu)
|
|
|
NM_000489.6(ATRX):c.1825C>T (p.Pro609Ser)
|
|
|
NM_000489.6(ATRX):c.1828C>G (p.Gln610Glu)
|
|
|
NM_000489.6(ATRX):c.1865C>T (p.Pro622Leu)
|
|
|
NM_000489.6(ATRX):c.2104A>G (p.Asn702Asp)
|
rs1557140316
|
|
NM_000489.6(ATRX):c.2184T>G (p.Asn728Lys)
|
rs2148604807
|
|
NM_000489.6(ATRX):c.2241TTC[2] (p.Ser750del)
|
rs1297294136
|
|
NM_000489.6(ATRX):c.2258A>G (p.Asp753Gly)
|
|
|
NM_000489.6(ATRX):c.2265T>G (p.Asn755Lys)
|
|
|
NM_000489.6(ATRX):c.2320G>A (p.Asp774Asn)
|
rs1557139871
|
|
NM_000489.6(ATRX):c.2320G>T (p.Asp774Tyr)
|
|
|
NM_000489.6(ATRX):c.233G>T (p.Arg78Leu)
|
|
|
NM_000489.6(ATRX):c.2342G>A (p.Arg781Gln)
|
rs1603220762
|
|
NM_000489.6(ATRX):c.2384G>A (p.Gly795Asp)
|
rs892981661
|
|
NM_000489.6(ATRX):c.2429C>T (p.Thr810Ile)
|
rs2148598084
|
|
NM_000489.6(ATRX):c.24A>C (p.Glu8Asp)
|
rs2148752831
|
|
NM_000489.6(ATRX):c.2541T>G (p.Phe847Leu)
|
rs782483240
|
|
NM_000489.6(ATRX):c.2557G>A (p.Glu853Lys)
|
rs2148594511
|
|
NM_000489.6(ATRX):c.2571A>C (p.Lys857Asn)
|
|
|
NM_000489.6(ATRX):c.259A>G (p.Thr87Ala)
|
rs1557150036
|
|
NM_000489.6(ATRX):c.2606A>G (p.Lys869Arg)
|
|
|
NM_000489.6(ATRX):c.2621G>C (p.Gly874Ala)
|
rs782339652
|
|
NM_000489.6(ATRX):c.2629G>A (p.Asp877Asn)
|
rs886044896
|
|
NM_000489.6(ATRX):c.2647C>A (p.Gln883Lys)
|
rs868926015
|
|
NM_000489.6(ATRX):c.26G>A (p.Ser9Asn)
|
|
|
NM_000489.6(ATRX):c.2743A>G (p.Ser915Gly)
|
rs2071273880
|
|
NM_000489.6(ATRX):c.2761G>A (p.Val921Ile)
|
|
|
NM_000489.6(ATRX):c.2782GAG[1] (p.Glu929del)
|
|
|
NM_000489.6(ATRX):c.2789G>C (p.Ser930Thr)
|
rs727503817
|
|
NM_000489.6(ATRX):c.3015G>A (p.Met1005Ile)
|
|
|
NM_000489.6(ATRX):c.3046A>G (p.Thr1016Ala)
|
|
|
NM_000489.6(ATRX):c.3122A>T (p.Asp1041Val)
|
|
|
NM_000489.6(ATRX):c.3266_3274del (p.Arg1089_Lys1091del)
|
|
|
NM_000489.6(ATRX):c.3279G>T (p.Arg1093Ser)
|
|
|
NM_000489.6(ATRX):c.3332A>C (p.Asp1111Ala)
|
rs2148575896
|
|
NM_000489.6(ATRX):c.3392G>C (p.Arg1131Thr)
|
rs2071220353
|
|
NM_000489.6(ATRX):c.3495_3500del (p.Asn1165_Lys1166del)
|
rs1557137281
|
|
NM_000489.6(ATRX):c.3545A>G (p.Lys1182Arg)
|
|
|
NM_000489.6(ATRX):c.3546G>C (p.Lys1182Asn)
|
rs1490780716
|
|
NM_000489.6(ATRX):c.3589C>G (p.Gln1197Glu)
|
|
|
NM_000489.6(ATRX):c.3592G>C (p.Ala1198Pro)
|
rs2071202324
|
|
NM_000489.6(ATRX):c.3641A>G (p.Asn1214Ser)
|
rs144527582
|
|
NM_000489.6(ATRX):c.3644C>T (p.Ser1215Phe)
|
rs2148568049
|
|
NM_000489.6(ATRX):c.3647T>C (p.Ile1216Thr)
|
rs2148567965
|
|
NM_000489.6(ATRX):c.3649G>T (p.Gly1217Cys)
|
rs781917332
|
|
NM_000489.6(ATRX):c.3670C>G (p.Gln1224Glu)
|
rs1057522687
|
|
NM_000489.6(ATRX):c.3931C>T (p.Pro1311Ser)
|
rs1603148139
|
|
NM_000489.6(ATRX):c.3933A>G (p.Pro1311=)
|
rs2148496532
|
|
NM_000489.6(ATRX):c.3968A>T (p.Glu1323Val)
|
rs2148489892
|
|
NM_000489.6(ATRX):c.3974A>G (p.Asp1325Gly)
|
|
|
NM_000489.6(ATRX):c.4004G>T (p.Arg1335Ile)
|
rs1569536694
|
|
NM_000489.6(ATRX):c.4035G>C (p.Leu1345Phe)
|
|
|
NM_000489.6(ATRX):c.4126A>G (p.Ser1376Gly)
|
|
|
NM_000489.6(ATRX):c.415G>T (p.Asp139Tyr)
|
rs2148669890
|
|
NM_000489.6(ATRX):c.4161A>C (p.Ser1387=)
|
|
|
NM_000489.6(ATRX):c.4169G>A (p.Ser1390Asn)
|
rs2148460882
|
|
NM_000489.6(ATRX):c.4215-4T>A
|
rs2148451946
|
|
NM_000489.6(ATRX):c.4312A>G (p.Asn1438Asp)
|
rs971839925
|
|
NM_000489.6(ATRX):c.4321A>C (p.Asn1441His)
|
rs2148440711
|
|
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.4348G>C (p.Glu1450Gln)
|
|
|
NM_000489.6(ATRX):c.4353GGA[2] (p.Glu1464del)
|
rs782630348
|
|
NM_000489.6(ATRX):c.4365GGA[6] (p.Glu1464dup)
|
rs398123423
|
|
NM_000489.6(ATRX):c.4582C>A (p.Pro1528Thr)
|
rs2148360412
|
|
NM_000489.6(ATRX):c.467A>G (p.Asn156Ser)
|
rs2148669776
|
|
NM_000489.6(ATRX):c.4720T>C (p.Cys1574Arg)
|
rs797044659
|
|
NM_000489.6(ATRX):c.4754C>T (p.Ser1585Phe)
|
|
|
NM_000489.6(ATRX):c.485-7C>G
|
rs1225852818
|
|
NM_000489.6(ATRX):c.4865C>T (p.Ala1622Val)
|
rs1135401793
|
|
NM_000489.6(ATRX):c.4882C>T (p.Leu1628Phe)
|
|
|
NM_000489.6(ATRX):c.4938A>G (p.Lys1646=)
|
rs797044664
|
|
NM_000489.6(ATRX):c.4957-4A>G
|
rs1602979818
|
|
NM_000489.6(ATRX):c.5011A>T (p.Arg1671Trp)
|
|
|
NM_000489.6(ATRX):c.5012G>A (p.Arg1671Lys)
|
|
|
NM_000489.6(ATRX):c.5087_5089dup (p.Lys1696dup)
|
rs1557106446
|
|
NM_000489.6(ATRX):c.5161G>A (p.Gly1721Ser)
|
rs727503816
|
|
NM_000489.6(ATRX):c.5212A>G (p.Ile1738Val)
|
rs1057523890
|
|
NM_000489.6(ATRX):c.5287A>G (p.Asn1763Asp)
|
|
|
NM_000489.6(ATRX):c.5326T>G (p.Phe1776Val)
|
|
|
NM_000489.6(ATRX):c.5452A>G (p.Lys1818Glu)
|
|
|
NM_000489.6(ATRX):c.5456A>T (p.Asp1819Val)
|
|
|
NM_000489.6(ATRX):c.5553A>C (p.Leu1851Phe)
|
rs1569531208
|
|
NM_000489.6(ATRX):c.5557C>T (p.His1853Tyr)
|
|
|
NM_000489.6(ATRX):c.5617T>C (p.Phe1873Leu)
|
|
|
NM_000489.6(ATRX):c.5693A>G (p.Asn1898Ser)
|
rs797044686
|
|
NM_000489.6(ATRX):c.5722G>T (p.Asp1908Tyr)
|
rs1057522290
|
|
NM_000489.6(ATRX):c.5742T>G (p.Asp1914Glu)
|
|
|
NM_000489.6(ATRX):c.5761A>G (p.Ser1921Gly)
|
|
|
NM_000489.6(ATRX):c.5773G>A (p.Asp1925Asn)
|
|
|
NM_000489.6(ATRX):c.5782A>G (p.Thr1928Ala)
|
|
|
NM_000489.6(ATRX):c.5801G>A (p.Gly1934Glu)
|
rs2148145226
|
|
NM_000489.6(ATRX):c.5966C>T (p.Thr1989Ile)
|
rs1557082422
|
|
NM_000489.6(ATRX):c.5968TCT[2] (p.Ser1992del)
|
rs782391479
|
|
NM_000489.6(ATRX):c.5975C>A (p.Ser1992Tyr)
|
|
|
NM_000489.6(ATRX):c.6085A>G (p.Met2029Val)
|
rs2148115836
|
|
NM_000489.6(ATRX):c.6097A>G (p.Ile2033Val)
|
rs1057521636
|
|
NM_000489.6(ATRX):c.6142G>T (p.Asp2048Tyr)
|
|
|
NM_000489.6(ATRX):c.6147G>A (p.Leu2049=)
|
rs2148090041
|
|
NM_000489.6(ATRX):c.6149T>C (p.Ile2050Thr)
|
rs122445110
|
|
NM_000489.6(ATRX):c.6157T>G (p.Phe2053Val)
|
rs2066171841
|
|
NM_000489.6(ATRX):c.6169G>C (p.Ala2057Pro)
|
rs2148089567
|
|
NM_000489.6(ATRX):c.6202C>T (p.Pro2068Ser)
|
rs1557079194
|
|
NM_000489.6(ATRX):c.6271A>G (p.Thr2091Ala)
|
rs1569525091
|
|
NM_000489.6(ATRX):c.632G>A (p.Arg211His)
|
|
|
NM_000489.6(ATRX):c.6401T>A (p.Ile2134Lys)
|
rs1602536751
|
|
NM_000489.6(ATRX):c.6406G>A (p.Asp2136Asn)
|
rs2064896365
|
|
NM_000489.6(ATRX):c.6464G>A (p.Gly2155Glu)
|
rs1057518599
|
|
NM_000489.6(ATRX):c.6484G>A (p.Val2162Ile)
|
rs1569523175
|
|
NM_000489.6(ATRX):c.6511A>G (p.Met2171Val)
|
|
|
NM_000489.6(ATRX):c.6618A>G (p.Glu2206=)
|
rs2064850147
|
|
NM_000489.6(ATRX):c.6631G>T (p.Glu2211Ter)
|
rs386352283
|
|
NM_000489.6(ATRX):c.6733A>C (p.Lys2245Gln)
|
|
|
NM_000489.6(ATRX):c.6753C>T (p.Tyr2251=)
|
rs797044495
|
|
NM_000489.6(ATRX):c.6777C>G (p.Asp2259Glu)
|
rs398123427
|
|
NM_000489.6(ATRX):c.6920C>T (p.Pro2307Leu)
|
rs2147749477
|
|
NM_000489.6(ATRX):c.6941G>T (p.Gly2314Val)
|
|
|
NM_000489.6(ATRX):c.7024G>A (p.Val2342Met)
|
|
|
NM_000489.6(ATRX):c.7067C>T (p.Ala2356Val)
|
|
|
NM_000489.6(ATRX):c.7072-3T>G
|
rs782686541
|
|
NM_000489.6(ATRX):c.7084A>G (p.Met2362Val)
|
rs2147738058
|
|
NM_000489.6(ATRX):c.70C>T (p.His24Tyr)
|
rs1191670776
|
|
NM_000489.6(ATRX):c.7104A>C (p.Gln2368His)
|
rs2147737907
|
|
NM_000489.6(ATRX):c.7141G>A (p.Glu2381Lys)
|
rs1557041077
|
|
NM_000489.6(ATRX):c.7200+9del
|
rs781816667
|
|
NM_000489.6(ATRX):c.7229T>G (p.Met2410Arg)
|
rs782388992
|
|
NM_000489.6(ATRX):c.7263GCAACA[1] (p.Gln2424_Gln2425del)
|
rs2147651246
|
|
NM_000489.6(ATRX):c.7309A>C (p.Met2437Leu)
|
|
|
NM_000489.6(ATRX):c.7334T>A (p.Ile2445Asn)
|
rs1057520923
|
|
NM_000489.6(ATRX):c.7368G>A (p.Met2456Ile)
|
|
|
NM_000489.6(ATRX):c.7371_7393del (p.Gly2458fs)
|
|
|
NM_000489.6(ATRX):c.7396G>A (p.Gly2466Ser)
|
|
|
NM_000489.6(ATRX):c.7406C>T (p.Pro2469Leu)
|
|
|
NM_000489.6(ATRX):c.763A>C (p.Thr255Pro)
|
|
|
NM_000489.6(ATRX):c.764C>T (p.Thr255Ile)
|
|
|
NM_000489.6(ATRX):c.773A>G (p.Asp258Gly)
|
|
|
NM_000489.6(ATRX):c.806A>G (p.His269Arg)
|
|
|
NM_000489.6(ATRX):c.830T>G (p.Val277Gly)
|
rs797044793
|
|
NM_000489.6(ATRX):c.832A>G (p.Thr278Ala)
|
rs2148636896
|
|
NM_000489.6(ATRX):c.884AGA[2] (p.Lys297del)
|
rs1064795918
|
|