ClinVar Miner

List of variants studied for Mendelian encephalopathy by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (29):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2487
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HGVS dbSNP gnomAD frequency
NM_006267.5(RANBP2):c.8253G>A (p.Glu2751=) rs826580 0.98805
NC_000003.12:g.167735251T>C rs9853967 0.42069
NM_006267.5(RANBP2):c.637-18G>A rs826577 0.37494
NM_006267.5(RANBP2):c.405+17T>G rs826526 0.36773
NM_006267.5(RANBP2):c.2550A>G (p.Ser850=) rs826549 0.35436
NC_000003.12:g.167735203T>C rs11714980 0.26406
NM_014297.5(ETHE1):c.6G>A (p.Ala2=) rs3810381 0.17604
NM_006267.5(RANBP2):c.1456-7A>G rs144029181 0.15939
NM_001122752.2(SERPINI1):c.21C>G (p.Phe7Leu) rs33917740 0.13145
NM_001122752.2(SERPINI1):c.576G>A (p.Ser192=) rs2229697 0.13143
NM_001122752.2(SERPINI1):c.51A>G (p.Thr17=) rs34582040 0.12694
NM_006267.5(RANBP2):c.4443A>G (p.Gly1481=) rs61748149 0.05119
NM_006267.5(RANBP2):c.9585C>T (p.Gly3195=) rs10185197 0.04909
NM_006267.5(RANBP2):c.72+11C>G rs113447280 0.04653
NM_006267.5(RANBP2):c.6609G>A (p.Ala2203=) rs60199637 0.04502
NM_006267.5(RANBP2):c.2562A>G (p.Gly854=) rs13426055 0.02567
NM_006267.5(RANBP2):c.3597G>A (p.Ala1199=) rs17036806 0.02270
NM_006267.5(RANBP2):c.2330A>G (p.His777Arg) rs61748146 0.02199
NM_006267.5(RANBP2):c.2056-19A>G rs199880095 0.02120
NM_014297.5(ETHE1):c.61G>T (p.Ala21Ser) rs116440799 0.01865
NM_001110792.2(MECP2):c.1269C>T (p.Ser423=) rs3027928 0.01805
NM_006267.5(RANBP2):c.1064-13A>T rs192629843 0.01429
NM_006267.5(RANBP2):c.8600-14G>T rs57063709 0.01326
NM_006267.5(RANBP2):c.8253= (p.Glu2751=) rs826580 0.01292
NM_006267.5(RANBP2):c.2559T>A (p.Asp853Glu) rs148999619 0.01261
NM_006267.5(RANBP2):c.5175A>G (p.Glu1725=) rs535428027 0.01177
NM_001122752.2(SERPINI1):c.838G>A (p.Ala280Thr) rs55872908 0.01095
NM_006267.5(RANBP2):c.816G>C (p.Leu272Phe) rs76352345 0.01093
NM_006267.5(RANBP2):c.1209C>T (p.Ser403=) rs140275032 0.00951
NM_006267.5(RANBP2):c.1632-16T>C rs147266881 0.00887
NM_006267.5(RANBP2):c.2173A>G (p.Ser725Gly) rs17414315 0.00881
NM_006267.5(RANBP2):c.5941T>A (p.Ser1981Thr) rs61748150 0.00820
NM_006267.5(RANBP2):c.3411A>C (p.Pro1137=) rs76461420 0.00790
NM_006267.5(RANBP2):c.2351G>A (p.Arg784Lys) rs2912838 0.00684
NM_001122752.2(SERPINI1):c.881+10T>G rs113533056 0.00651
NM_006267.5(RANBP2):c.1087C>T (p.Arg363Cys) rs149207118 0.00617
NM_001122752.2(SERPINI1):c.250+13A>G rs77880879 0.00608
NM_006267.5(RANBP2):c.7849+4A>G rs2949961 0.00502
NM_006267.5(RANBP2):c.2339C>T (p.Pro780Leu) rs61758802 0.00497
NM_006267.5(RANBP2):c.2955G>A (p.Pro985=) rs61748147 0.00495
NM_006267.5(RANBP2):c.5307G>A (p.Lys1769=) rs76221103 0.00493
NM_006267.5(RANBP2):c.4726A>T (p.Thr1576Ser) rs74821091 0.00490
NM_006267.5(RANBP2):c.2982A>T (p.Ala994=) rs61748148 0.00486
NM_006267.5(RANBP2):c.3033G>A (p.Pro1011=) rs78215631 0.00478
NM_006267.5(RANBP2):c.7754T>C (p.Ile2585Thr) rs145886643 0.00475
NM_006267.5(RANBP2):c.728T>C (p.Met243Thr) rs139151870 0.00457
NM_006267.5(RANBP2):c.73-6T>A rs201485597 0.00423
NM_006267.5(RANBP2):c.1274-14T>A rs201447069 0.00399
NM_014297.5(ETHE1):c.227-9C>G rs199921503 0.00367
NM_001122752.2(SERPINI1):c.289G>A (p.Val97Ile) rs61750375 0.00357
NM_001122752.2(SERPINI1):c.297T>G (p.Ala99=) rs61761891 0.00319
NM_001110792.2(MECP2):c.1225G>A (p.Glu409Lys) rs56268439 0.00308
NM_001122752.2(SERPINI1):c.518A>G (p.Asp173Gly) rs61735309 0.00308
NM_001122752.2(SERPINI1):c.482-20A>G rs2420038 0.00299
NM_006267.5(RANBP2):c.3162G>T (p.Gln1054His) rs141230513 0.00292
NM_006267.5(RANBP2):c.3163C>T (p.Pro1055Ser) rs140860785 0.00290
NM_001110792.2(MECP2):c.719C>G (p.Thr240Ser) rs61749738 0.00281
NM_006267.5(RANBP2):c.7850-6T>G rs183569993 0.00273
NM_006267.5(RANBP2):c.3461A>T (p.His1154Leu) rs77443930 0.00272
NM_006267.5(RANBP2):c.8407A>G (p.Ile2803Val) rs61758804 0.00272
NM_001110792.2(MECP2):c.1371G>A (p.Thr457=) rs3027927 0.00256
NM_006267.5(RANBP2):c.225C>G (p.Asn75Lys) rs144278795 0.00227
NM_001122752.2(SERPINI1):c.40A>G (p.Ser14Gly) rs61735307 0.00225
NM_006267.5(RANBP2):c.4760G>T (p.Gly1587Val) rs148677577 0.00204
NM_001110792.2(MECP2):c.618C>T (p.Ser206=) rs61749711 0.00194
NM_006267.5(RANBP2):c.7670A>G (p.Asn2557Ser) rs145613015 0.00184
NM_006267.5(RANBP2):c.1536G>A (p.Pro512=) rs370400502 0.00175
NM_001110792.2(MECP2):c.933C>T (p.Thr311=) rs61748423 0.00166
NM_001122752.2(SERPINI1):c.77T>C (p.Ile26Thr) rs146948408 0.00163
NM_001110792.2(MECP2):c.1071A>G (p.Lys357=) rs61752362 0.00153
NM_001110792.2(MECP2):c.638C>T (p.Ala213Val) rs61748381 0.00150
NM_006267.5(RANBP2):c.3501T>C (p.Asp1167=) rs141352171 0.00140
NM_006267.5(RANBP2):c.4498G>C (p.Ala1500Pro) rs145284139 0.00133
NM_006267.5(RANBP2):c.4826A>T (p.Gln1609Leu) rs146669983 0.00132
NM_006267.5(RANBP2):c.5217C>T (p.Ala1739=) rs146460294 0.00120
NM_006267.5(RANBP2):c.7172C>G (p.Thr2391Ser) rs2433786 0.00117
NM_006267.5(RANBP2):c.2502C>G (p.Asn834Lys) rs144573168 0.00110
NM_001110792.2(MECP2):c.246C>T (p.Ser82=) rs61754439 0.00109
NM_001110792.2(MECP2):c.1162C>T (p.Pro388Ser) rs61752387 0.00108
NM_006267.5(RANBP2):c.9369+4G>A rs139387463 0.00108
NM_006267.5(RANBP2):c.783-6T>C rs138540027 0.00107
NM_001122752.2(SERPINI1):c.432T>C (p.Asn144=) rs140116256 0.00106
NM_006267.5(RANBP2):c.1920A>G (p.Ala640=) rs147080366 0.00106
NM_006267.5(RANBP2):c.2230G>C (p.Glu744Gln) rs2912840 0.00102
NM_006267.5(RANBP2):c.6663A>G (p.Thr2221=) rs150750548 0.00102
NM_006267.5(RANBP2):c.1274-13A>T rs1423837507 0.00098
NM_006267.5(RANBP2):c.4530A>G (p.Leu1510=) rs111676038 0.00098
NM_006267.5(RANBP2):c.8599+16G>A rs145152325 0.00086
NM_006267.5(RANBP2):c.5561A>G (p.Asn1854Ser) rs141379413 0.00082
NM_001110792.2(MECP2):c.1233C>T (p.Pro411=) rs61753012 0.00081
NM_006267.5(RANBP2):c.6270G>A (p.Thr2090=) rs138191683 0.00081
NM_001110792.2(MECP2):c.1366G>A (p.Ala456Thr) rs61753975 0.00080
NM_001122752.2(SERPINI1):c.208A>G (p.Lys70Glu) rs11547811 0.00078
NM_006267.5(RANBP2):c.1284A>G (p.Arg428=) rs142514679 0.00076
NM_001122752.2(SERPINI1):c.106C>A (p.Arg36Ser) rs61735306 0.00073
NM_006267.5(RANBP2):c.2520T>C (p.Arg840=) rs150539591 0.00071
NM_006267.5(RANBP2):c.7805C>T (p.Thr2602Met) rs200438979 0.00071
NM_001110792.2(MECP2):c.644C>T (p.Thr215Met) rs61749720 0.00070
NM_006267.5(RANBP2):c.2243C>T (p.Ser748Leu) rs200940828 0.00068
NM_006267.5(RANBP2):c.3226T>G (p.Leu1076Val) rs142768885 0.00068
NM_006267.5(RANBP2):c.5950G>A (p.Gly1984Ser) rs375852855 0.00067
NM_006267.5(RANBP2):c.5801G>A (p.Arg1934His) rs149692552 0.00066
NM_001110792.2(MECP2):c.626C>T (p.Thr209Met) rs61749714 0.00064
NM_001122752.2(SERPINI1):c.218G>A (p.Arg73His) rs139808176 0.00063
NM_006267.5(RANBP2):c.7499C>T (p.Thr2500Ile) rs140280672 0.00061
NM_006267.5(RANBP2):c.2212C>T (p.Pro738Ser) rs201793011 0.00060
NM_001110792.2(MECP2):c.411C>A (p.Ile137=) rs146107517 0.00059
NM_014297.5(ETHE1):c.340A>T (p.Ile114Phe) rs143319354 0.00059
NM_001110792.2(MECP2):c.879C>T (p.Ala293=) rs61750252 0.00058
NM_006267.5(RANBP2):c.2084A>C (p.Glu695Ala) rs148298842 0.00057
NM_006267.5(RANBP2):c.8461A>C (p.Thr2821Pro) rs142231499 0.00057
NM_006267.5(RANBP2):c.8075G>A (p.Gly2692Asp) rs111958052 0.00055
NM_006267.5(RANBP2):c.238G>A (p.Val80Ile) rs140785381 0.00054
NM_001122752.2(SERPINI1):c.340G>A (p.Val114Met) rs61735308 0.00051
NM_006267.5(RANBP2):c.1755+15A>G rs376409146 0.00051
NM_006267.5(RANBP2):c.7463T>C (p.Val2488Ala) rs189289937 0.00048
NM_006267.5(RANBP2):c.6098A>G (p.Lys2033Arg) rs146851340 0.00047
NM_001110792.2(MECP2):c.855G>T (p.Gly285=) rs61750245 0.00046
NM_001110792.2(MECP2):c.870C>T (p.Ala290=) rs61750248 0.00045
NM_006267.5(RANBP2):c.2405G>A (p.Arg802Gln) rs187011794 0.00044
NM_001122752.2(SERPINI1):c.1183A>G (p.Met395Val) rs144637103 0.00043
NM_001110792.2(MECP2):c.885C>G (p.Ala295=) rs61750253 0.00042
NM_006267.5(RANBP2):c.7966A>G (p.Thr2656Ala) rs148596328 0.00040
NM_006267.5(RANBP2):c.7411G>A (p.Val2471Ile) rs550688543 0.00039
NM_006267.5(RANBP2):c.8671G>A (p.Gly2891Ser) rs376940698 0.00037
NM_006267.5(RANBP2):c.3350C>T (p.Ser1117Leu) rs137976808 0.00036
NM_006267.5(RANBP2):c.7039G>C (p.Gly2347Arg) rs151064332 0.00036
NM_006267.5(RANBP2):c.7751A>G (p.Asp2584Gly) rs138022657 0.00036
NM_001110792.2(MECP2):c.312A>G (p.Gly104=) rs140191561 0.00035
NM_001110792.2(MECP2):c.978C>T (p.Ile326=) rs61751446 0.00034
NM_006267.5(RANBP2):c.9346G>A (p.Val3116Ile) rs150721983 0.00034
NM_001110792.2(MECP2):c.623C>G (p.Thr208Ser) rs61749713 0.00031
NM_001110792.2(MECP2):c.1108G>A (p.Ala370Thr) rs147017239 0.00030
NM_006267.5(RANBP2):c.6203A>G (p.Asn2068Ser) rs150424672 0.00030
NM_006267.5(RANBP2):c.8125G>A (p.Glu2709Lys) rs373969193 0.00029
NM_001110792.2(MECP2):c.813C>T (p.Ala271=) rs1042870 0.00028
NM_006267.5(RANBP2):c.5040C>T (p.Ala1680=) rs552993785 0.00028
NM_014297.5(ETHE1):c.278C>T (p.Ser93Phe) rs199827754 0.00027
NM_001110792.2(MECP2):c.731G>C (p.Gly244Ala) rs61748422 0.00026
NM_001122752.2(SERPINI1):c.217C>T (p.Arg73Cys) rs369596299 0.00026
NM_001122752.2(SERPINI1):c.248A>T (p.Asn83Ile) rs150681002 0.00026
NM_014297.5(ETHE1):c.150G>C (p.Leu50=) rs142193567 0.00026
NM_014297.5(ETHE1):c.227-11C>G rs376275256 0.00026
NM_006267.5(RANBP2):c.5871A>G (p.Glu1957=) rs202117246 0.00024
NM_001110792.2(MECP2):c.1174G>A (p.Val392Met) rs267608572 0.00023
NM_006267.5(RANBP2):c.6276G>A (p.Thr2092=) rs568128033 0.00023
NM_001110792.2(MECP2):c.876C>T (p.Ala292=) rs61750251 0.00022
NM_006267.5(RANBP2):c.7340C>T (p.Ser2447Phe) rs200750445 0.00022
NM_006267.5(RANBP2):c.873G>A (p.Met291Ile) rs369585628 0.00022
NM_001110792.2(MECP2):c.1020C>T (p.Leu340=) rs61751442 0.00021
NM_006267.5(RANBP2):c.7066G>A (p.Asp2356Asn) rs377422691 0.00021
NM_001110792.2(MECP2):c.1173C>T (p.Pro391=) rs61752980 0.00020
NM_001110792.2(MECP2):c.1224C>T (p.Ser408=) rs781816931 0.00020
NM_001110792.2(MECP2):c.462C>T (p.Phe154=) rs61748397 0.00020
NM_006267.5(RANBP2):c.1361G>A (p.Arg454Gln) rs779203901 0.00020
NM_014297.5(ETHE1):c.184G>A (p.Ala62Thr) rs138958351 0.00020
NM_001110792.2(MECP2):c.1242C>T (p.Pro414=) rs63586860 0.00019
NM_006267.5(RANBP2):c.1718C>G (p.Ala573Gly) rs141122553 0.00019
NM_006267.5(RANBP2):c.2340G>A (p.Pro780=) rs2912839 0.00019
NM_006267.5(RANBP2):c.2751T>C (p.Tyr917=) rs140567791 0.00019
NM_001110792.2(MECP2):c.429C>G (p.Ala143=) rs61748385 0.00018
NM_001110792.2(MECP2):c.722C>T (p.Ser241Leu) rs61749739 0.00018
NM_006267.5(RANBP2):c.1957A>G (p.Thr653Ala) rs149578420 0.00018
NM_006267.5(RANBP2):c.4918T>A (p.Ser1640Thr) rs138946474 0.00018
NM_006267.5(RANBP2):c.560A>G (p.His187Arg) rs2693122 0.00018
NM_006267.5(RANBP2):c.7669A>G (p.Asn2557Asp) rs575319797 0.00018
NM_006267.5(RANBP2):c.834G>A (p.Leu278=) rs199652721 0.00018
NM_006267.5(RANBP2):c.9253T>C (p.Phe3085Leu) rs200328905 0.00018
NM_001110792.2(MECP2):c.621C>T (p.Gly207=) rs61749712 0.00017
NM_006267.5(RANBP2):c.2818G>T (p.Gly940Cys) rs201001226 0.00017
NM_006267.5(RANBP2):c.2901A>G (p.Gln967=) rs376394926 0.00017
NM_006267.5(RANBP2):c.3376C>T (p.Arg1126Trp) rs370285906 0.00017
NM_006267.5(RANBP2):c.492C>T (p.Asp164=) rs142217504 0.00017
NM_006267.5(RANBP2):c.5428A>G (p.Thr1810Ala) rs143681482 0.00017
NM_006267.5(RANBP2):c.6171G>A (p.Leu2057=) rs199917317 0.00017
NM_006267.5(RANBP2):c.3653A>G (p.Asn1218Ser) rs146109021 0.00016
NM_006267.5(RANBP2):c.606A>G (p.Glu202=) rs2557924 0.00016
NM_006267.5(RANBP2):c.8613A>G (p.Gln2871=) rs369829153 0.00016
NM_001110792.2(MECP2):c.1270G>A (p.Val424Ile) rs61753966 0.00015
NM_001110792.2(MECP2):c.1362C>T (p.Thr454=) rs61751363 0.00015
NM_001110792.2(MECP2):c.1409G>A (p.Arg470His) rs185957513 0.00015
NM_001110792.2(MECP2):c.789C>T (p.Pro263=) rs63582063 0.00015
NM_006267.5(RANBP2):c.1231G>A (p.Val411Ile) rs139907041 0.00015
NM_006267.5(RANBP2):c.2895T>C (p.Asn965=) rs140434238 0.00015
NM_006267.5(RANBP2):c.3955G>C (p.Ala1319Pro) rs374902910 0.00015
NM_006267.5(RANBP2):c.4331C>T (p.Ala1444Val) rs150309568 0.00015
NM_014297.5(ETHE1):c.81+13G>A rs753110318 0.00015
NM_001110792.2(MECP2):c.1293C>T (p.Pro431=) rs199540575 0.00014
NM_001122752.2(SERPINI1):c.990G>T (p.Glu330Asp) rs372246975 0.00014
NM_006267.5(RANBP2):c.1535C>T (p.Pro512Leu) rs377029115 0.00014
NM_006267.5(RANBP2):c.1642G>T (p.Val548Leu) rs1057954 0.00014
NM_006267.5(RANBP2):c.3419C>T (p.Ser1140Leu) rs756874724 0.00014
NM_006267.5(RANBP2):c.342A>T (p.Ala114=) rs140650569 0.00014
NM_006267.5(RANBP2):c.4400C>T (p.Pro1467Leu) rs146136785 0.00014
NM_006267.5(RANBP2):c.4534G>T (p.Ala1512Ser) rs184236392 0.00014
NM_006267.5(RANBP2):c.4707G>A (p.Pro1569=) rs757396599 0.00014
NM_001110792.2(MECP2):c.1176G>A (p.Val392=) rs201711454 0.00013
NM_001110792.2(MECP2):c.897C>T (p.Ala299=) rs139378224 0.00013
NM_001122752.2(SERPINI1):c.508A>G (p.Arg170Gly) rs774989939 0.00013
NM_006267.5(RANBP2):c.1225A>G (p.Ile409Val) rs201087513 0.00013
NM_006267.5(RANBP2):c.2241T>G (p.Asn747Lys) rs757991427 0.00013
NM_006267.5(RANBP2):c.2997A>G (p.Ile999Met) rs201152981 0.00013
NM_006267.5(RANBP2):c.3129C>G (p.Asp1043Glu) rs201783367 0.00013
NM_006267.5(RANBP2):c.3253A>C (p.Lys1085Gln) rs576035153 0.00013
NM_006267.5(RANBP2):c.4042G>A (p.Val1348Ile) rs139246606 0.00013
NM_006267.5(RANBP2):c.5979C>T (p.Ser1993=) rs757493880 0.00013
NM_006267.5(RANBP2):c.8031C>T (p.Phe2677=) rs143766371 0.00013
NM_001110792.2(MECP2):c.1032C>T (p.Ser344=) rs148744894 0.00012
NM_001110792.2(MECP2):c.1363G>A (p.Ala455Thr) rs193922677 0.00012
NM_001110792.2(MECP2):c.171C>T (p.Pro57=) rs139477857 0.00012
NM_001110792.2(MECP2):c.669G>C (p.Arg223Ser) rs61749731 0.00012
NM_001122752.2(SERPINI1):c.1125A>G (p.Pro375=) rs753147816 0.00012
NM_006267.5(RANBP2):c.1108A>G (p.Lys370Glu) rs143137111 0.00012
NM_006267.5(RANBP2):c.4999G>A (p.Gly1667Arg) rs776380363 0.00012
NM_006267.5(RANBP2):c.543G>A (p.Leu181=) rs146460580 0.00012
NM_006267.5(RANBP2):c.6680A>G (p.Tyr2227Cys) rs2557901 0.00012
NM_001110792.2(MECP2):c.1318G>A (p.Gly440Ser) rs61753971 0.00011
NM_001122752.2(SERPINI1):c.286A>G (p.Met96Val) rs372528371 0.00011
NM_006267.5(RANBP2):c.2852C>T (p.Thr951Met) rs549497956 0.00011
NM_006267.5(RANBP2):c.2904G>C (p.Gln968His) rs149515235 0.00011
NM_006267.5(RANBP2):c.3934G>A (p.Val1312Ile) rs372722891 0.00011
NM_006267.5(RANBP2):c.4442G>A (p.Gly1481Glu) rs115106428 0.00011
NM_006267.5(RANBP2):c.5189G>A (p.Cys1730Tyr) rs199711632 0.00011
NM_006267.5(RANBP2):c.73A>G (p.Lys25Glu) rs576251747 0.00011
NM_006267.5(RANBP2):c.7513C>A (p.Pro2505Thr) rs147542198 0.00011
NM_006267.5(RANBP2):c.7756G>A (p.Glu2586Lys) rs544396243 0.00011
NM_006267.5(RANBP2):c.8484T>A (p.Asp2828Glu) rs141258840 0.00011
NM_006267.5(RANBP2):c.9219C>T (p.Asp3073=) rs149605647 0.00011
NM_001110792.2(MECP2):c.1196C>T (p.Pro399Leu) rs63390262 0.00010
NM_001110792.2(MECP2):c.204C>T (p.Pro68=) rs61754435 0.00010
NM_001110792.2(MECP2):c.639G>A (p.Ala213=) rs267608504 0.00010
NM_006267.5(RANBP2):c.1602G>A (p.Ala534=) rs764385067 0.00010
NM_006267.5(RANBP2):c.1797A>G (p.Ile599Met) rs530276235 0.00010
NM_006267.5(RANBP2):c.1803A>G (p.Arg601=) rs371593092 0.00010
NM_006267.5(RANBP2):c.732T>G (p.Leu244=) rs374781899 0.00010
NM_006267.5(RANBP2):c.7617A>T (p.Ser2539=) rs143675099 0.00010
NM_006267.5(RANBP2):c.8761-4A>G rs199908301 0.00010
NM_001110792.2(MECP2):c.1216G>A (p.Glu406Lys) rs63094662 0.00009
NM_001110792.2(MECP2):c.1375G>A (p.Ala459Thr) rs267608626 0.00009
NM_001110792.2(MECP2):c.627G>A (p.Thr209=) rs61749716 0.00009
NM_001110792.2(MECP2):c.653G>C (p.Gly218Ala) rs63485860 0.00009
NM_001110792.2(MECP2):c.756C>T (p.Thr252=) rs61749746 0.00009
NM_001110792.2(MECP2):c.851C>T (p.Pro284Leu) rs61750243 0.00009
NM_001110792.2(MECP2):c.861G>A (p.Val287=) rs782202718 0.00009
NM_001122752.2(SERPINI1):c.1116C>T (p.Val372=) rs142605327 0.00009
NM_006267.5(RANBP2):c.1737A>C (p.Ala579=) rs139276330 0.00009
NM_006267.5(RANBP2):c.2267A>G (p.Tyr756Cys) rs780328981 0.00009
NM_006267.5(RANBP2):c.2894A>G (p.Asn965Ser) rs201447642 0.00009
NM_006267.5(RANBP2):c.4152G>A (p.Glu1384=) rs200253800 0.00009
NM_006267.5(RANBP2):c.4993A>G (p.Lys1665Glu) rs770727082 0.00009
NM_006267.5(RANBP2):c.6431G>A (p.Arg2144Gln) rs550357048 0.00009
NM_006267.5(RANBP2):c.702C>G (p.Asp234Glu) rs148149640 0.00009
NM_006267.5(RANBP2):c.7464A>G (p.Val2488=) rs368598843 0.00009
NM_006267.5(RANBP2):c.8670C>T (p.Ala2890=) rs199918785 0.00009
NM_014297.5(ETHE1):c.174G>T (p.Ala58=) rs774616694 0.00009
NM_014297.5(ETHE1):c.573C>T (p.Ile191=) rs139119694 0.00009
NM_014297.5(ETHE1):c.684C>T (p.Asn228=) rs369625358 0.00009
NM_001110792.2(MECP2):c.1473G>A (p.Thr491=) rs587781033 0.00008
NM_001110792.2(MECP2):c.551C>T (p.Pro184Leu) rs267608491 0.00008
NM_006267.5(RANBP2):c.1740A>G (p.Glu580=) rs554245982 0.00008
NM_006267.5(RANBP2):c.1947C>T (p.Asp649=) rs752018090 0.00008
NM_006267.5(RANBP2):c.1954A>G (p.Ile652Val) rs560038746 0.00008
NM_006267.5(RANBP2):c.2263G>A (p.Asp755Asn) rs2557914 0.00008
NM_006267.5(RANBP2):c.2625A>G (p.Val875=) rs200515712 0.00008
NM_006267.5(RANBP2):c.3149A>T (p.Gln1050Leu) rs768450419 0.00008
NM_006267.5(RANBP2):c.3170C>T (p.Pro1057Leu) rs150151795 0.00008
NM_006267.5(RANBP2):c.6035A>G (p.His2012Arg) rs772929320 0.00008
NM_006267.5(RANBP2):c.7207T>G (p.Leu2403Val) rs1198374414 0.00008
NM_006267.5(RANBP2):c.8859C>T (p.Arg2953=) rs779450120 0.00008
NM_006267.5(RANBP2):c.9216G>A (p.Ala3072=) rs371443840 0.00008
NM_001110792.2(MECP2):c.1197C>T (p.Pro399=) rs61750246 0.00007
NM_001110792.2(MECP2):c.1251C>T (p.Pro417=) rs61753964 0.00007
NM_001110792.2(MECP2):c.62+15C>T rs782109379 0.00007
NM_001122752.2(SERPINI1):c.18C>A (p.Leu6=) rs752294814 0.00007
NM_001122752.2(SERPINI1):c.251-10C>G rs200606523 0.00007
NM_006267.5(RANBP2):c.1761C>T (p.Ser587=) rs199659469 0.00007
NM_006267.5(RANBP2):c.2802C>G (p.Phe934Leu) rs138210821 0.00007
NM_006267.5(RANBP2):c.2992A>G (p.Thr998Ala) rs199597217 0.00007
NM_006267.5(RANBP2):c.324T>C (p.Asp108=) rs375199174 0.00007
NM_006267.5(RANBP2):c.9402C>T (p.Gly3134=) rs182073857 0.00007
NM_014297.5(ETHE1):c.46C>T (p.Arg16Cys) rs761653656 0.00007
NM_014297.5(ETHE1):c.535C>T (p.His179Tyr) rs370182416 0.00007
NM_001110792.2(MECP2):c.1066C>T (p.Arg356Trp) rs61752361 0.00006
NM_001110792.2(MECP2):c.1107C>T (p.Ser369=) rs61750236 0.00006
NM_001110792.2(MECP2):c.1171C>T (p.Pro391Ser) rs782050077 0.00006
NM_001110792.2(MECP2):c.1198C>T (p.Pro400Ser) rs61753000 0.00006
NM_001110792.2(MECP2):c.1292C>T (p.Pro431Leu) rs376324027 0.00006
NM_001110792.2(MECP2):c.642C>T (p.Ala214=) rs782254448 0.00006
NM_001110792.2(MECP2):c.737C>G (p.Ala246Gly) rs138211345 0.00006
NM_001110792.2(MECP2):c.90C>G (p.Leu30=) rs372500343 0.00006
NM_001122752.2(SERPINI1):c.482-6A>C rs773900198 0.00006
NM_001122752.2(SERPINI1):c.482-7del rs780104028 0.00006
NM_001122752.2(SERPINI1):c.663A>C (p.Gly221=) rs777179641 0.00006
NM_006267.5(RANBP2):c.1340T>C (p.Leu447Ser) rs539147212 0.00006
NM_006267.5(RANBP2):c.1644A>G (p.Val548=) rs1057955 0.00006
NM_006267.5(RANBP2):c.2147A>G (p.Asp716Gly) rs771554716 0.00006
NM_006267.5(RANBP2):c.2164A>T (p.Ile722Leu) rs746264200 0.00006
NM_006267.5(RANBP2):c.344A>G (p.Lys115Arg) rs745353229 0.00006
NM_006267.5(RANBP2):c.3484C>T (p.His1162Tyr) rs143175615 0.00006
NM_006267.5(RANBP2):c.3582C>A (p.Phe1194Leu) rs201567166 0.00006
NM_006267.5(RANBP2):c.366C>A (p.Ala122=) rs201782168 0.00006
NM_006267.5(RANBP2):c.4216G>A (p.Asp1406Asn) rs777082127 0.00006
NM_006267.5(RANBP2):c.4317G>C (p.Gln1439His) rs375070272 0.00006
NM_006267.5(RANBP2):c.5298G>T (p.Glu1766Asp) rs140653325 0.00006
NM_006267.5(RANBP2):c.6323T>C (p.Leu2108Ser) rs756955122 0.00006
NM_006267.5(RANBP2):c.6342T>C (p.Asp2114=) rs529005450 0.00006
NM_006267.5(RANBP2):c.9035-4C>T rs753514543 0.00006
NM_014297.5(ETHE1):c.375+7T>C rs752466453 0.00006
NM_014297.5(ETHE1):c.379T>C (p.Leu127=) rs150091315 0.00006
NM_014297.5(ETHE1):c.9G>A (p.Glu3=) rs773937760 0.00006
NM_001110792.2(MECP2):c.1058G>A (p.Ser353Asn) rs782708218 0.00005
NM_001110792.2(MECP2):c.107A>G (p.Lys36Arg) rs782344115 0.00005
NM_001110792.2(MECP2):c.1096C>T (p.Arg366Cys) rs143876280 0.00005
NM_001110792.2(MECP2):c.1097G>T (p.Arg366Leu) rs61748387 0.00005
NM_001110792.2(MECP2):c.1111T>C (p.Ser371Pro) rs61752371 0.00005
NM_001110792.2(MECP2):c.1200A>G (p.Pro400=) rs797044732 0.00005
NM_001110792.2(MECP2):c.1206A>T (p.Pro402=) rs1246582571 0.00005
NM_001110792.2(MECP2):c.1211A>C (p.Glu404Ala) rs1557135593 0.00005
NM_001110792.2(MECP2):c.1232C>T (p.Pro411Leu) rs62915962 0.00005
NM_001110792.2(MECP2):c.1353G>A (p.Ala451=) rs146632223 0.00005
NM_001110792.2(MECP2):c.1485G>C (p.Glu495Asp) rs267608336 0.00005
NM_001110792.2(MECP2):c.414-20C>G rs368684221 0.00005
NM_001110792.2(MECP2):c.456G>A (p.Ala152=) rs782082759 0.00005
NM_001110792.2(MECP2):c.510G>A (p.Thr170=) rs61748413 0.00005
NM_001110792.2(MECP2):c.563C>G (p.Pro188Arg) rs61749701 0.00005
NM_001110792.2(MECP2):c.696C>T (p.Leu232=) rs267608512 0.00005
NM_001122752.2(SERPINI1):c.28C>T (p.Leu10=) rs1182632779 0.00005
NM_001122752.2(SERPINI1):c.414T>C (p.His138=) rs758630825 0.00005
NM_001122752.2(SERPINI1):c.481+8A>G rs370676993 0.00005
NM_001122752.2(SERPINI1):c.76A>G (p.Ile26Val) rs372678518 0.00005
NM_001122752.2(SERPINI1):c.881+14G>A rs1334441460 0.00005
NM_006267.5(RANBP2):c.1679A>G (p.Asn560Ser) rs780734900 0.00005
NM_006267.5(RANBP2):c.1762G>A (p.Gly588Ser) rs200629657 0.00005
NM_006267.5(RANBP2):c.1765C>G (p.Leu589Val) rs560012069 0.00005
NM_006267.5(RANBP2):c.1961T>A (p.Phe654Tyr) rs779026006 0.00005
NM_006267.5(RANBP2):c.2202+14T>G rs202098901 0.00005
NM_006267.5(RANBP2):c.2834G>A (p.Arg945His) rs531378652 0.00005
NM_006267.5(RANBP2):c.3612C>T (p.Phe1204=) rs749275095 0.00005
NM_006267.5(RANBP2):c.4294G>A (p.Val1432Ile) rs1006499929 0.00005
NM_006267.5(RANBP2):c.520G>T (p.Val174Leu) rs1045111673 0.00005
NM_006267.5(RANBP2):c.526C>T (p.Arg176Cys) rs543844917 0.00005
NM_006267.5(RANBP2):c.6008A>G (p.Tyr2003Cys) rs778749820 0.00005
NM_006267.5(RANBP2):c.6120A>G (p.Val2040=) rs1056562628 0.00005
NM_006267.5(RANBP2):c.6728T>C (p.Val2243Ala) rs149880163 0.00005
NM_006267.5(RANBP2):c.7605C>T (p.Phe2535=) rs535331371 0.00005
NM_006267.5(RANBP2):c.8009A>G (p.Glu2670Gly) rs150674986 0.00005
NM_006267.5(RANBP2):c.9369+8T>C rs534483974 0.00005
NM_014297.5(ETHE1):c.115C>G (p.Leu39Val) rs201260191 0.00005
NM_001110792.2(MECP2):c.1021G>A (p.Gly341Ser) rs201871183 0.00004
NM_001110792.2(MECP2):c.1120C>G (p.Pro374Ala) rs782171742 0.00004
NM_001110792.2(MECP2):c.1177C>T (p.Pro393Ser) rs61752981 0.00004
NM_001110792.2(MECP2):c.1190C>A (p.Pro397His) rs111302745 0.00004
NM_001110792.2(MECP2):c.1223C>T (p.Ser408Phe) rs782125862 0.00004
NM_001110792.2(MECP2):c.1244C>T (p.Pro415Leu) rs587783107 0.00004
NM_001110792.2(MECP2):c.1250C>T (p.Pro417Leu) rs61753016 0.00004
NM_001110792.2(MECP2):c.1302C>T (p.Gly434=) rs61753970 0.00004
NM_001110792.2(MECP2):c.1352C>T (p.Ala451Val) rs782805738 0.00004
NM_001110792.2(MECP2):c.550C>G (p.Pro184Ala) rs61748426 0.00004
NM_001110792.2(MECP2):c.750G>A (p.Gly250=) rs369813305 0.00004
NM_001110792.2(MECP2):c.838C>T (p.Arg280Trp) rs61750239 0.00004
NM_001110792.2(MECP2):c.877G>A (p.Ala293Thr) rs782239416 0.00004
NM_001110792.2(MECP2):c.915C>G (p.Ile305Met) rs587783140 0.00004
NM_001110792.2(MECP2):c.968C>T (p.Thr323Met) rs61751445 0.00004
NM_001122752.2(SERPINI1):c.1066+10G>T rs773079957 0.00004
NM_001122752.2(SERPINI1):c.1222G>A (p.Glu408Lys) rs756112704 0.00004
NM_001122752.2(SERPINI1):c.402A>G (p.Ala134=) rs2108557185 0.00004
NM_006267.5(RANBP2):c.1350A>T (p.Leu450Phe) rs766607881 0.00004
NM_006267.5(RANBP2):c.1677A>G (p.Ile559Met) rs370737050 0.00004
NM_006267.5(RANBP2):c.1738G>A (p.Glu580Lys) rs1057956 0.00004
NM_006267.5(RANBP2):c.1911C>T (p.Asp637=) rs202210294 0.00004
NM_006267.5(RANBP2):c.1918-10G>A rs772940794 0.00004
NM_006267.5(RANBP2):c.20A>C (p.Asp7Ala) rs201886746 0.00004
NM_006267.5(RANBP2):c.2142C>T (p.Thr714=) rs371899344 0.00004
NM_006267.5(RANBP2):c.2296G>C (p.Gly766Arg) rs773278648 0.00004
NM_006267.5(RANBP2):c.2343T>C (p.Ser781=) rs777882945 0.00004
NM_006267.5(RANBP2):c.4114T>G (p.Cys1372Gly) rs748526932 0.00004
NM_006267.5(RANBP2):c.4220G>A (p.Arg1407Gln) rs146986427 0.00004
NM_006267.5(RANBP2):c.4514C>T (p.Pro1505Leu) rs773526624 0.00004
NM_006267.5(RANBP2):c.5294C>T (p.Ser1765Leu) rs367858316 0.00004
NM_006267.5(RANBP2):c.5311C>G (p.Pro1771Ala) rs371560504 0.00004
NM_006267.5(RANBP2):c.5579A>C (p.Lys1860Thr) rs776428358 0.00004
NM_006267.5(RANBP2):c.612T>G (p.Asn204Lys) rs994626423 0.00004
NM_006267.5(RANBP2):c.6150T>G (p.Ser2050Arg) rs758206047 0.00004
NM_006267.5(RANBP2):c.6461C>G (p.Pro2154Arg) rs751375908 0.00004
NM_006267.5(RANBP2):c.6988C>A (p.Gln2330Lys) rs2693105 0.00004
NM_006267.5(RANBP2):c.7182T>C (p.Asn2394=) rs375284697 0.00004
NM_006267.5(RANBP2):c.7332A>G (p.Glu2444=) rs760061689 0.00004
NM_006267.5(RANBP2):c.7360T>G (p.Ser2454Ala) rs757368794 0.00004
NM_006267.5(RANBP2):c.7864A>C (p.Lys2622Gln) rs749548826 0.00004
NM_006267.5(RANBP2):c.7974C>G (p.Phe2658Leu) rs368484651 0.00004
NM_006267.5(RANBP2):c.8188A>C (p.Lys2730Gln) rs747890333 0.00004
NM_006267.5(RANBP2):c.8370C>G (p.Phe2790Leu) rs150773903 0.00004
NM_006267.5(RANBP2):c.8411G>T (p.Ser2804Ile) rs368049213 0.00004
NM_006267.5(RANBP2):c.8956G>A (p.Val2986Ile) rs753199133 0.00004
NM_006267.5(RANBP2):c.9158C>T (p.Ser3053Leu) rs200863740 0.00004
NM_006267.5(RANBP2):c.929G>A (p.Arg310Gln) rs765648480 0.00004
NM_014297.5(ETHE1):c.375+19C>A rs751243822 0.00004
NM_014297.5(ETHE1):c.487C>T (p.Arg163Trp) rs28940289 0.00004
NM_014297.5(ETHE1):c.585C>T (p.His195=) rs753493085 0.00004
NM_001110792.2(MECP2):c.1002C>T (p.Pro334=) rs1165796985 0.00003
NM_001110792.2(MECP2):c.1138C>T (p.His380Tyr) rs781968415 0.00003
NM_001110792.2(MECP2):c.1185C>T (p.Leu395=) rs782385010 0.00003
NM_001110792.2(MECP2):c.1191C>T (p.Pro397=) rs370226935 0.00003
NM_001110792.2(MECP2):c.1230C>T (p.Asp410=) rs782741920 0.00003
NM_001110792.2(MECP2):c.1231C>T (p.Pro411Ser) rs797045691 0.00003
NM_001110792.2(MECP2):c.1291C>T (p.Pro431Ser) rs140258520 0.00003
NM_001110792.2(MECP2):c.1364C>T (p.Ala455Val) rs375101073 0.00003
NM_001110792.2(MECP2):c.1374C>T (p.Ala458=) rs782496297 0.00003
NM_001110792.2(MECP2):c.1477G>A (p.Val493Met) rs193922678 0.00003
NM_001110792.2(MECP2):c.172G>A (p.Val58Met) rs587783134 0.00003
NM_001110792.2(MECP2):c.260C>T (p.Pro87Leu) rs267608440 0.00003
NM_001110792.2(MECP2):c.261G>A (p.Pro87=) rs61754442 0.00003
NM_001110792.2(MECP2):c.307C>T (p.Arg103Trp) rs782320257 0.00003
NM_001110792.2(MECP2):c.417C>G (p.Pro139=) rs782752095 0.00003
NM_001110792.2(MECP2):c.484C>T (p.Leu162=) rs371082040 0.00003
NM_001110792.2(MECP2):c.531C>T (p.Pro177=) rs376821032 0.00003
NM_001110792.2(MECP2):c.569C>G (p.Ser190Cys) rs782314807 0.00003
NM_001110792.2(MECP2):c.641C>G (p.Ala214Gly) rs587783138 0.00003
NM_001110792.2(MECP2):c.656T>C (p.Val219Ala) rs868943420 0.00003
NM_001110792.2(MECP2):c.726A>C (p.Pro242=) rs61749740 0.00003
NM_001110792.2(MECP2):c.771C>G (p.Val257=) rs782027467 0.00003
NM_001110792.2(MECP2):c.852G>A (p.Pro284=) rs587783746 0.00003
NM_001110792.2(MECP2):c.868G>A (p.Ala290Thr) rs782086416 0.00003
NM_001110792.2(MECP2):c.967A>G (p.Thr323Ala) rs782208190 0.00003
NM_001122752.2(SERPINI1):c.1067-6C>T rs759360650 0.00003
NM_001122752.2(SERPINI1):c.1173G>A (p.Met391Ile) rs1370761997 0.00003
NM_001122752.2(SERPINI1):c.250+14G>C rs769937767 0.00003
NM_001122752.2(SERPINI1):c.404C>T (p.Ala135Val) rs746127233 0.00003
NM_001122752.2(SERPINI1):c.439G>A (p.Val147Met) rs772999261 0.00003
NM_001122752.2(SERPINI1):c.61T>C (p.Phe21Leu) rs545345009 0.00003
NM_001122752.2(SERPINI1):c.748G>A (p.Glu250Lys) rs754533393 0.00003
NM_001122752.2(SERPINI1):c.817G>A (p.Ala273Thr) rs778331359 0.00003
NM_006267.5(RANBP2):c.1117G>C (p.Val373Leu) rs779534152 0.00003
NM_006267.5(RANBP2):c.1425A>G (p.Ala475=) rs745596658 0.00003
NM_006267.5(RANBP2):c.1601C>T (p.Ala534Val) rs763321558 0.00003
NM_006267.5(RANBP2):c.1776T>C (p.Phe592=) rs755487849 0.00003
NM_006267.5(RANBP2):c.1918-3T>C rs765978051 0.00003
NM_006267.5(RANBP2):c.1918-7del rs758248681 0.00003
NM_006267.5(RANBP2):c.2066G>A (p.Arg689Lys) rs1220611752 0.00003
NM_006267.5(RANBP2):c.2182A>G (p.Asn728Asp) rs774474793 0.00003
NM_006267.5(RANBP2):c.2410G>A (p.Ala804Thr) rs757404634 0.00003
NM_006267.5(RANBP2):c.2698-4T>C rs757813505 0.00003
NM_006267.5(RANBP2):c.2954C>T (p.Pro985Leu) rs368547122 0.00003
NM_006267.5(RANBP2):c.3594C>T (p.Arg1198=) rs746067787 0.00003
NM_006267.5(RANBP2):c.4161C>T (p.Gly1387=) rs1474575032 0.00003
NM_006267.5(RANBP2):c.4515G>A (p.Pro1505=) rs140837223 0.00003
NM_006267.5(RANBP2):c.5066A>G (p.Gln1689Arg) rs143930883 0.00003
NM_006267.5(RANBP2):c.5295G>A (p.Ser1765=) rs1296269274 0.00003
NM_006267.5(RANBP2):c.561C>T (p.His187=) rs761758022 0.00003
NM_006267.5(RANBP2):c.5731A>G (p.Lys1911Glu) rs762492477 0.00003
NM_006267.5(RANBP2):c.5786G>A (p.Gly1929Asp) rs778007786 0.00003
NM_006267.5(RANBP2):c.6024C>T (p.Ser2008=) rs771879832 0.00003
NM_006267.5(RANBP2):c.6291T>C (p.Pro2097=) rs765228926 0.00003
NM_006267.5(RANBP2):c.6393G>A (p.Leu2131=) rs760911618 0.00003
NM_006267.5(RANBP2):c.7303A>G (p.Ile2435Val) rs771708140 0.00003
NM_006267.5(RANBP2):c.7827C>T (p.Tyr2609=) rs371875659 0.00003
NM_006267.5(RANBP2):c.7863A>G (p.Lys2621=) rs749384165 0.00003
NM_006267.5(RANBP2):c.7923C>T (p.Thr2641=) rs750830644 0.00003
NM_006267.5(RANBP2):c.8100A>G (p.Glu2700=) rs764139070 0.00003
NM_006267.5(RANBP2):c.8177C>G (p.Ala2726Gly) rs148910172 0.00003
NM_006267.5(RANBP2):c.8262A>G (p.Gln2754=) rs749840401 0.00003
NM_006267.5(RANBP2):c.8360T>G (p.Val2787Gly) rs367864778 0.00003
NM_006267.5(RANBP2):c.8369T>A (p.Phe2790Tyr) rs142150663 0.00003
NM_006267.5(RANBP2):c.8498-5G>A rs1471380537 0.00003
NM_006267.5(RANBP2):c.871A>G (p.Met291Val) rs542732311 0.00003
NM_006267.5(RANBP2):c.9215C>T (p.Ala3072Val) rs368398572 0.00003
NM_006267.5(RANBP2):c.9297A>G (p.Leu3099=) rs1229672264 0.00003
NM_014297.5(ETHE1):c.11C>T (p.Ala4Val) rs549901509 0.00003
NM_014297.5(ETHE1):c.226+10G>A rs376156983 0.00003
NM_014297.5(ETHE1):c.476G>A (p.Arg159His) rs768669208 0.00003
NM_014297.5(ETHE1):c.586G>A (p.Asp196Asn) rs763799125 0.00003
NM_014297.5(ETHE1):c.595+18G>A rs1378664277 0.00003
NM_014297.5(ETHE1):c.597G>A (p.Gly199=) rs901230825 0.00003
NM_014297.5(ETHE1):c.695C>T (p.Pro232Leu) rs182058313 0.00003
NM_001110792.2(MECP2):c.1037A>G (p.Lys346Arg) rs782121443 0.00002
NM_001110792.2(MECP2):c.1049C>G (p.Thr350Ser) rs786204313 0.00002
NM_001110792.2(MECP2):c.108A>G (p.Lys36=) rs782202329 0.00002
NM_001110792.2(MECP2):c.1098C>T (p.Arg366=) rs782228941 0.00002
NM_001110792.2(MECP2):c.1109C>T (p.Ala370Val) rs1158736298 0.00002
NM_001110792.2(MECP2):c.1117C>G (p.Pro373Ala) rs61752373 0.00002
NM_001110792.2(MECP2):c.1118C>A (p.Pro373His) rs782736700 0.00002
NM_001110792.2(MECP2):c.1140C>G (p.His380Gln) rs61752382 0.00002
NM_001110792.2(MECP2):c.1150C>T (p.His384Tyr) rs375477214 0.00002
NM_001110792.2(MECP2):c.1153T>C (p.Ser385Pro) rs782420258 0.00002
NM_001110792.2(MECP2):c.1168G>A (p.Ala390Thr) rs587783106 0.00002
NM_001110792.2(MECP2):c.1187C>T (p.Pro396Leu) rs193922676 0.00002
NM_001110792.2(MECP2):c.1199C>T (p.Pro400Leu) rs61753006 0.00002
NM_001110792.2(MECP2):c.1202C>G (p.Pro401Arg) rs782487274 0.00002
NM_001110792.2(MECP2):c.1239C>T (p.Ser413=) rs782230851 0.00002
NM_001110792.2(MECP2):c.1253A>C (p.Gln418Pro) rs782638259 0.00002
NM_001110792.2(MECP2):c.1303T>C (p.Ser435Pro) rs782243032 0.00002
NM_001110792.2(MECP2):c.1315G>A (p.Asp439Asn) rs782217947 0.00002
NM_001110792.2(MECP2):c.1324C>T (p.Pro442Ser) rs267608622 0.00002
NM_001110792.2(MECP2):c.1325C>T (p.Pro442Leu) rs930563451 0.00002
NM_001110792.2(MECP2):c.1365C>T (p.Ala455=) rs782706777 0.00002
NM_001110792.2(MECP2):c.13G>A (p.Ala5Thr) rs1240023402 0.00002
NM_001110792.2(MECP2):c.1408C>T (p.Arg470Cys) rs267608628 0.00002
NM_001110792.2(MECP2):c.1410C>T (p.Arg470=) rs781825661 0.00002
NM_001110792.2(MECP2):c.1476C>T (p.Pro492=) rs782677867 0.00002
NM_001110792.2(MECP2):c.1483G>A (p.Glu495Lys) rs587777421 0.00002
NM_001110792.2(MECP2):c.1487G>C (p.Arg496Thr) rs267608370 0.00002
NM_001110792.2(MECP2):c.189C>T (p.His63=) rs267608432 0.00002
NM_001110792.2(MECP2):c.231A>G (p.Ser77=) rs781905548 0.00002
NM_001110792.2(MECP2):c.242G>T (p.Gly81Val) rs1557137890 0.00002
NM_001110792.2(MECP2):c.251C>T (p.Pro84Leu) rs61754440 0.00002
NM_001110792.2(MECP2):c.281A>G (p.Lys94Arg) rs61754444 0.00002
NM_001110792.2(MECP2):c.413+18C>G rs267608461 0.00002
NM_001110792.2(MECP2):c.414-18_414-17insA rs1259325104 0.00002
NM_001110792.2(MECP2):c.414-3C>T rs267608465 0.00002
NM_001110792.2(MECP2):c.414-6C>G rs782482746 0.00002
NM_001110792.2(MECP2):c.414T>C (p.Asn138=) rs782035249 0.00002
NM_001110792.2(MECP2):c.490C>G (p.Pro164Ala) rs179363900 0.00002
NM_001110792.2(MECP2):c.553C>G (p.Pro185Ala) rs61748427 0.00002
NM_001110792.2(MECP2):c.604C>T (p.Arg202Cys) rs587783137 0.00002
NM_001110792.2(MECP2):c.609C>G (p.Pro203=) rs61749710 0.00002
NM_001110792.2(MECP2):c.619G>A (p.Gly207Ser) rs782806083 0.00002
NM_001110792.2(MECP2):c.632C>G (p.Pro211Arg) rs267608502 0.00002
NM_001110792.2(MECP2):c.645G>A (p.Thr215=) rs61749722 0.00002
NM_001110792.2(MECP2):c.702C>G (p.Val234=) rs61749735 0.00002
NM_001110792.2(MECP2):c.727G>A (p.Gly243Arg) rs587783139 0.00002
NM_001110792.2(MECP2):c.780C>G (p.Ile260Met) rs782086243 0.00002
NM_001110792.2(MECP2):c.81C>T (p.Asp27=) rs782168400 0.00002
NM_001110792.2(MECP2):c.908C>G (p.Ser303Cys) rs1326849768 0.00002
NM_001110792.2(MECP2):c.918A>G (p.Arg306=) rs782744332 0.00002
NM_001110792.2(MECP2):c.954C>G (p.Arg318=) rs782383967 0.00002
NM_001110792.2(MECP2):c.969G>A (p.Thr323=) rs782335201 0.00002
NM_001122752.2(SERPINI1):c.1008A>G (p.Ala336=) rs1330766416 0.00002
NM_001122752.2(SERPINI1):c.1201A>C (p.Asn401His) rs780903060 0.00002
NM_001122752.2(SERPINI1):c.1221C>A (p.Phe407Leu) rs149238028 0.00002
NM_001122752.2(SERPINI1):c.192C>T (p.Ala64=) rs889665899 0.00002
NM_001122752.2(SERPINI1):c.221A>G (p.His74Arg) rs757918199 0.00002
NM_001122752.2(SERPINI1):c.260T>C (p.Phe87Ser) rs755311803 0.00002
NM_001122752.2(SERPINI1):c.281C>T (p.Ser94Leu) rs781486255 0.00002
NM_001122752.2(SERPINI1):c.388A>C (p.Lys130Gln) rs967193064 0.00002
NM_001122752.2(SERPINI1):c.629G>A (p.Ser210Asn) rs1296179457 0.00002
NM_001122752.2(SERPINI1):c.881+4T>G rs766034834 0.00002
NM_001122752.2(SERPINI1):c.917T>C (p.Val306Ala) rs779353952 0.00002
NM_001122752.2(SERPINI1):c.923A>C (p.Lys308Thr) rs201695047 0.00002
NM_001122752.2(SERPINI1):c.971G>T (p.Gly324Val) rs780530289 0.00002
NM_001122752.2(SERPINI1):c.980-7T>G rs1459038029 0.00002
NM_006267.5(RANBP2):c.1133A>G (p.Asn378Ser) rs370375563 0.00002
NM_006267.5(RANBP2):c.1216A>G (p.Ile406Val) rs1251336337 0.00002
NM_006267.5(RANBP2):c.140+9A>T rs755428275 0.00002
NM_006267.5(RANBP2):c.1755+12A>C rs566038527 0.00002
NM_006267.5(RANBP2):c.1833A>G (p.Pro611=) rs1558904916 0.00002
NM_006267.5(RANBP2):c.1917+9G>A rs570751636 0.00002
NM_006267.5(RANBP2):c.1959T>C (p.Thr653=) rs755010156 0.00002
NM_006267.5(RANBP2):c.1972G>A (p.Asp658Asn) rs772008799 0.00002
NM_006267.5(RANBP2):c.1993G>A (p.Glu665Lys) rs759073709 0.00002
NM_006267.5(RANBP2):c.2020A>T (p.Ile674Leu) rs1238632184 0.00002
NM_006267.5(RANBP2):c.2040T>C (p.Tyr680=) rs201294188 0.00002
NM_006267.5(RANBP2):c.2056-10A>G rs539183099 0.00002
NM_006267.5(RANBP2):c.2313A>G (p.Ala771=) rs76482726 0.00002
NM_006267.5(RANBP2):c.2469A>G (p.Lys823=) rs763497305 0.00002
NM_006267.5(RANBP2):c.2507C>A (p.Ala836Glu) rs762106093 0.00002
NM_006267.5(RANBP2):c.2833C>T (p.Arg945Cys) rs1230163478 0.00002
NM_006267.5(RANBP2):c.288T>G (p.Leu96=) rs755002297 0.00002
NM_006267.5(RANBP2):c.3287G>A (p.Arg1096Gln) rs774748190 0.00002
NM_006267.5(RANBP2):c.3585T>C (p.Phe1195=) rs375351925 0.00002
NM_006267.5(RANBP2):c.3944C>T (p.Ala1315Val) rs778959329 0.00002
NM_006267.5(RANBP2):c.3945G>A (p.Ala1315=) rs748155574 0.00002
NM_006267.5(RANBP2):c.3967G>T (p.Val1323Leu) rs543164039 0.00002
NM_006267.5(RANBP2):c.4080C>T (p.Ser1360=) rs769596488 0.00002
NM_006267.5(RANBP2):c.4183T>C (p.Phe1395Leu) rs1157711861 0.00002
NM_006267.5(RANBP2):c.4549A>G (p.Thr1517Ala) rs751118849 0.00002
NM_006267.5(RANBP2):c.4609G>A (p.Glu1537Lys) rs1375081547 0.00002
NM_006267.5(RANBP2):c.4949C>T (p.Thr1650Ile) rs1677054108 0.00002
NM_006267.5(RANBP2):c.4976A>G (p.Glu1659Gly) rs372348140 0.00002
NM_006267.5(RANBP2):c.5166T>G (p.Thr1722=) rs1238106275 0.00002
NM_006267.5(RANBP2):c.5224A>G (p.Thr1742Ala) rs776783992 0.00002
NM_006267.5(RANBP2):c.5356G>T (p.Asp1786Tyr) rs753417427 0.00002
NM_006267.5(RANBP2):c.6116G>A (p.Arg2039Gln) rs545733728 0.00002
NM_006267.5(RANBP2):c.6282C>T (p.Asn2094=) rs759465379 0.00002
NM_006267.5(RANBP2):c.630C>T (p.Thr210=) rs774429534 0.00002
NM_006267.5(RANBP2):c.636+16T>C rs1407354933 0.00002
NM_006267.5(RANBP2):c.739C>T (p.Leu247Phe) rs1179200305 0.00002
NM_006267.5(RANBP2):c.7674T>C (p.Ser2558=) rs1221988004 0.00002
NM_006267.5(RANBP2):c.7710C>A (p.Ser2570Arg) rs748626354 0.00002
NM_006267.5(RANBP2):c.771A>T (p.Glu257Asp) rs761240246 0.00002
NM_006267.5(RANBP2):c.7755C>T (p.Ile2585=) rs573825128 0.00002
NM_006267.5(RANBP2):c.8060A>T (p.Lys2687Ile) rs773902761 0.00002
NM_006267.5(RANBP2):c.8166G>A (p.Glu2722=) rs895968968 0.00002
NM_006267.5(RANBP2):c.8385A>G (p.Glu2795=) rs774055387 0.00002
NM_006267.5(RANBP2):c.8498G>A (p.Gly2833Glu) rs560513063 0.00002
NM_006267.5(RANBP2):c.9220G>A (p.Gly3074Ser) rs753643539 0.00002
NM_006267.5(RANBP2):c.974A>G (p.Gln325Arg) rs547648155 0.00002
NM_014297.5(ETHE1):c.108C>T (p.Phe36=) rs1479718914 0.00002
NM_014297.5(ETHE1):c.153C>A (p.Ile51=) rs1434510051 0.00002
NM_014297.5(ETHE1):c.243C>T (p.His81=) rs756821615 0.00002
NM_014297.5(ETHE1):c.2T>C (p.Met1Thr) rs1470124674 0.00002
NM_014297.5(ETHE1):c.376-12C>A rs781192460 0.00002
NM_014297.5(ETHE1):c.426C>T (p.Phe142=) rs566533497 0.00002
NM_014297.5(ETHE1):c.427G>A (p.Val143Ile) rs201846162 0.00002
NM_014297.5(ETHE1):c.488G>A (p.Arg163Gln) rs745656120 0.00002
NC_000019.10:g.43527257G>A rs1031575408 0.00001
NM_001110792.2(MECP2):c.1013C>A (p.Ser338Tyr) rs1557136107 0.00001
NM_001110792.2(MECP2):c.1018C>G (p.Leu340Val) rs267608556 0.00001
NM_001110792.2(MECP2):c.1031G>A (p.Ser344Asn) rs896762572 0.00001
NM_001110792.2(MECP2):c.1055A>G (p.Lys352Arg) rs781944561 0.00001
NM_001110792.2(MECP2):c.1059C>T (p.Ser353=) rs2065932294 0.00001
NM_001110792.2(MECP2):c.105C>G (p.Asp35Glu) rs781974856 0.00001
NM_001110792.2(MECP2):c.1065G>A (p.Gly355=) rs1057522816 0.00001
NM_001110792.2(MECP2):c.1077G>A (p.Lys359=) rs1043854626 0.00001
NM_001110792.2(MECP2):c.1086C>T (p.Ser362=) rs1557136001 0.00001
NM_001110792.2(MECP2):c.1089C>G (p.Pro363=) rs782242577 0.00001
NM_001110792.2(MECP2):c.1122C>G (p.Pro374=) rs1557135934 0.00001
NM_001110792.2(MECP2):c.1129_1134del (p.Glu377_His378del) rs2065928263 0.00001
NM_001110792.2(MECP2):c.1131G>A (p.Glu377=) rs782085130 0.00001
NM_001110792.2(MECP2):c.1137C>G (p.His379Gln) rs1336019373 0.00001
NM_001110792.2(MECP2):c.1137C>T (p.His379=) rs1336019373 0.00001
NM_001110792.2(MECP2):c.1141C>T (p.His381Tyr) rs1346803557 0.00001
NM_001110792.2(MECP2):c.114C>G (p.Leu38=) rs1557138002 0.00001
NM_001110792.2(MECP2):c.1161C>T (p.Ser387=) rs782221170 0.00001
NM_001110792.2(MECP2):c.1167G>A (p.Lys389=) rs1557135820 0.00001
NM_001110792.2(MECP2):c.1170C>T (p.Ala390=) rs782751264 0.00001
NM_001110792.2(MECP2):c.1172C>T (p.Pro391Leu) rs971722789 0.00001
NM_001110792.2(MECP2):c.1183C>T (p.Leu395Phe) rs1340029095 0.00001
NM_001110792.2(MECP2):c.118T>C (p.Phe40Leu) rs1557137994 0.00001
NM_001110792.2(MECP2):c.1195C>A (p.Pro399Thr) rs1171658384 0.00001
NM_001110792.2(MECP2):c.1209T>A (p.Pro403=) rs1569548322 0.00001
NM_001110792.2(MECP2):c.1212G>A (p.Glu404=) rs61753009 0.00001
NM_001110792.2(MECP2):c.1221C>T (p.Ser407=) rs782775618 0.00001
NM_001110792.2(MECP2):c.1235C>T (p.Thr412Ile) rs782420809 0.00001
NM_001110792.2(MECP2):c.1238G>A (p.Ser413Asn) rs62707562 0.00001
NM_001110792.2(MECP2):c.1240C>A (p.Pro414Thr) rs150146088 0.00001
NM_001110792.2(MECP2):c.1243C>G (p.Pro415Ala) rs782495086 0.00001
NM_001110792.2(MECP2):c.1249C>T (p.Pro417Ser) rs781786825 0.00001
NM_001110792.2(MECP2):c.1271T>C (p.Val424Ala) rs782598922 0.00001
NM_001110792.2(MECP2):c.1275C>T (p.Cys425=) rs61753967 0.00001
NM_001110792.2(MECP2):c.1286A>T (p.Lys429Met) rs61753968 0.00001
NM_001110792.2(MECP2):c.1301G>A (p.Gly434Asp) rs1557135148 0.00001
NM_001110792.2(MECP2):c.1314C>T (p.Ser438=) rs267608619 0.00001
NM_001110792.2(MECP2):c.1317C>T (p.Asp439=) rs374900442 0.00001
NM_001110792.2(MECP2):c.1320C>T (p.Gly440=) rs267608621 0.00001
NM_001110792.2(MECP2):c.1323C>T (p.Cys441=) rs782638563 0.00001
NM_001110792.2(MECP2):c.1327A>C (p.Lys443Gln) rs781829911 0.00001
NM_001110792.2(MECP2):c.1345C>A (p.Gln449Lys) rs1569548273 0.00001
NM_001110792.2(MECP2):c.1350C>T (p.Pro450=) rs782798565 0.00001
NM_001110792.2(MECP2):c.1354G>C (p.Val452Leu) rs1557135085 0.00001
NM_001110792.2(MECP2):c.1359C>T (p.Ala453=) rs781964746 0.00001
NM_001110792.2(MECP2):c.1368C>T (p.Ala456=) rs1204809030 0.00001
NM_001110792.2(MECP2):c.1373C>T (p.Ala458Val) rs782608788 0.00001
NM_001110792.2(MECP2):c.1376C>T (p.Ala459Val) rs61753978 0.00001
NM_001110792.2(MECP2):c.1394G>A (p.Arg465Gln) rs61753980 0.00001
NM_001110792.2(MECP2):c.1414G>C (p.Asp472His) rs782747061 0.00001
NM_001110792.2(MECP2):c.1440G>A (p.Arg480=) rs267608633 0.00001
NM_001110792.2(MECP2):c.1458T>C (p.Pro486=) rs1557134910 0.00001
NM_001110792.2(MECP2):c.1466G>C (p.Ser489Thr) rs267608328 0.00001
NM_001110792.2(MECP2):c.1469G>A (p.Arg490Gln) rs145790362 0.00001
NM_001110792.2(MECP2):c.1474C>T (p.Pro492Ser) rs267608636 0.00001
NM_001110792.2(MECP2):c.1482C>T (p.Thr494=) rs76895094 0.00001
NM_001110792.2(MECP2):c.1489G>C (p.Val497Leu) rs782487090 0.00001
NM_001110792.2(MECP2):c.186C>T (p.Ala62=) rs2065988537 0.00001
NM_001110792.2(MECP2):c.236G>T (p.Gly79Val) rs150900180 0.00001
NM_001110792.2(MECP2):c.23C>A (p.Ala8Glu) rs2066906180 0.00001
NM_001110792.2(MECP2):c.252G>A (p.Pro84=) rs781942427 0.00001
NM_001110792.2(MECP2):c.273C>G (p.Ala91=) rs374659909 0.00001
NM_001110792.2(MECP2):c.275C>T (p.Ser92Phe) rs1332969540 0.00001
NM_001110792.2(MECP2):c.279C>G (p.Pro93=) rs1557137825 0.00001
NM_001110792.2(MECP2):c.289C>T (p.Arg97Cys) rs1064797047 0.00001
NM_001110792.2(MECP2):c.290G>A (p.Arg97His) rs782226571 0.00001
NM_001110792.2(MECP2):c.301C>T (p.Arg101Cys) rs782601477 0.00001
NM_001110792.2(MECP2):c.315C>T (p.Pro105=) rs267608447 0.00001
NM_001110792.2(MECP2):c.358C>G (p.Leu120Val) rs1557137721 0.00001
NM_001110792.2(MECP2):c.40G>A (p.Gly14Arg) rs1392399136 0.00001
NM_001110792.2(MECP2):c.413+24C>A rs267608462 0.00001
NM_001110792.2(MECP2):c.414-10G>T rs1557137196 0.00001
NM_001110792.2(MECP2):c.414-16C>T rs782519436 0.00001
NM_001110792.2(MECP2):c.414-4A>G rs1466897089 0.00001
NM_001110792.2(MECP2):c.414-7C>T rs1557137194 0.00001
NM_001110792.2(MECP2):c.435C>G (p.Arg145=) rs782178841 0.00001
NM_001110792.2(MECP2):c.44G>A (p.Gly15Glu) rs1333935838 0.00001
NM_001110792.2(MECP2):c.459C>T (p.Tyr153=) rs61748396 0.00001
NM_001110792.2(MECP2):c.463G>A (p.Glu155Lys) rs1233476760 0.00001
NM_001110792.2(MECP2):c.464A>C (p.Glu155Ala) rs1557137072 0.00001
NM_001110792.2(MECP2):c.474C>T (p.Gly158=) rs61748386 0.00001
NM_001110792.2(MECP2):c.477C>G (p.Asp159Glu) rs782468872 0.00001
NM_001110792.2(MECP2):c.478A>G (p.Thr160Ala) rs1282284627 0.00001
NM_001110792.2(MECP2):c.486G>C (p.Leu162=) rs1060504124 0.00001
NM_001110792.2(MECP2):c.543G>A (p.Glu181=) rs2065957477 0.00001
NM_001110792.2(MECP2):c.549A>G (p.Lys183=) rs781872600 0.00001
NM_001110792.2(MECP2):c.552A>G (p.Pro184=) rs1169814545 0.00001
NM_001110792.2(MECP2):c.554C>G (p.Pro185Arg) rs267608492 0.00001
NM_001110792.2(MECP2):c.55G>A (p.Glu19Lys) rs782789719 0.00001
NM_001110792.2(MECP2):c.562C>T (p.Pro188Ser) rs186663314 0.00001
NM_001110792.2(MECP2):c.573C>G (p.Pro191=) rs782676768 0.00001
NM_001110792.2(MECP2):c.579T>C (p.Ala193=) rs1557136875 0.00001
NM_001110792.2(MECP2):c.580C>T (p.Pro194Ser) rs2065955562 0.00001
NM_001110792.2(MECP2):c.587C>G (p.Thr196Ser) rs782419414 0.00001
NM_001110792.2(MECP2):c.597C>A (p.Gly199=) rs200074866 0.00001
NM_001110792.2(MECP2):c.598C>T (p.Arg200Trp) rs782467549 0.00001
NM_001110792.2(MECP2):c.606C>T (p.Arg202=) rs782556129 0.00001
NM_001110792.2(MECP2):c.63-17C>G rs781850696 0.00001
NM_001110792.2(MECP2):c.63-8C>T rs267608410 0.00001
NM_001110792.2(MECP2):c.631C>T (p.Pro211Ser) rs373329231 0.00001
NM_001110792.2(MECP2):c.633C>G (p.Pro211=) rs782619288 0.00001
NM_001110792.2(MECP2):c.672C>A (p.Val224=) rs1557136728 0.00001
NM_001110792.2(MECP2):c.673C>G (p.Leu225Val) rs782473355 0.00001
NM_001110792.2(MECP2):c.682A>G (p.Ser228Gly) rs782777382 0.00001
NM_001110792.2(MECP2):c.68A>G (p.Glu23Gly) rs782735472 0.00001
NM_001110792.2(MECP2):c.6C>T (p.Ala2=) rs782531601 0.00001
NM_001110792.2(MECP2):c.723G>T (p.Ser241=) rs782461567 0.00001
NM_001110792.2(MECP2):c.724C>G (p.Pro242Ala) rs1209806388 0.00001
NM_001110792.2(MECP2):c.745G>A (p.Gly249Ser) rs782493538 0.00001
NM_001110792.2(MECP2):c.753C>T (p.Ala251=) rs1057520963 0.00001
NM_001110792.2(MECP2):c.759A>G (p.Thr253=) rs1416619132 0.00001
NM_001110792.2(MECP2):c.75A>G (p.Ser25=) rs782561844 0.00001
NM_001110792.2(MECP2):c.765C>G (p.Thr255=) rs1557136570 0.00001
NM_001110792.2(MECP2):c.782A>G (p.Lys261Arg) rs2522074270 0.00001
NM_001110792.2(MECP2):c.783A>G (p.Lys261=) rs2522074221 0.00001
NM_001110792.2(MECP2):c.784C>T (p.Arg262Cys) rs141382970 0.00001
NM_001110792.2(MECP2):c.785G>A (p.Arg262His) rs61750227 0.00001
NM_001110792.2(MECP2):c.80A>C (p.Asp27Ala) rs1557138051 0.00001
NM_001110792.2(MECP2):c.825C>T (p.Ala275=) rs782444398 0.00001
NM_001110792.2(MECP2):c.826A>G (p.Ile276Val) rs1181961523 0.00001
NM_001110792.2(MECP2):c.831C>G (p.Pro277=) rs267608527 0.00001
NM_001110792.2(MECP2):c.840G>A (p.Arg280=) rs2065942686 0.00001
NM_001110792.2(MECP2):c.846A>G (p.Arg282=) rs782743949 0.00001
NM_001110792.2(MECP2):c.860T>C (p.Val287Ala) rs143989769 0.00001
NM_001110792.2(MECP2):c.871G>A (p.Ala291Thr) rs371234586 0.00001
NM_001110792.2(MECP2):c.888A>G (p.Lys296=) rs1475733695 0.00001
NM_001110792.2(MECP2):c.895G>C (p.Ala299Pro) rs61750257 0.00001
NM_001110792.2(MECP2):c.898G>A (p.Val300Met) rs782455664 0.00001
NM_001110792.2(MECP2):c.911C>G (p.Ser304Cys) rs1557136290 0.00001
NM_001110792.2(MECP2):c.913A>G (p.Ile305Val) rs1557136286 0.00001
NM_001110792.2(MECP2):c.916C>G (p.Arg306Gly) rs61751362 0.00001
NM_001110792.2(MECP2):c.917G>A (p.Arg306Gln) rs61751366 0.00001
NM_001110792.2(MECP2):c.934G>A (p.Val312Ile) rs61751370 0.00001
NM_001110792.2(MECP2):c.939C>G (p.Leu313=) rs61751372 0.00001
NM_001110792.2(MECP2):c.984C>G (p.Val328=) rs61751447 0.00001
NM_001110792.2(MECP2):c.990A>G (p.Glu330=) rs141454727 0.00001
NM_001110792.2(MECP2):c.9C>T (p.Ala3=) rs1437033667 0.00001
NM_001122752.2(SERPINI1):c.1020C>A (p.Ser340=) rs1168418034 0.00001
NM_001122752.2(SERPINI1):c.1033A>G (p.Asn345Asp) rs200482511 0.00001
NM_001122752.2(SERPINI1):c.1062C>A (p.Val354=) rs150383628 0.00001
NM_001122752.2(SERPINI1):c.1067-14T>C rs748055404 0.00001
NM_001122752.2(SERPINI1):c.1071G>A (p.Met357Ile) rs1168773849 0.00001
NM_001122752.2(SERPINI1):c.107G>A (p.Arg36His) rs780236670 0.00001
NM_001122752.2(SERPINI1):c.1117G>A (p.Asp373Asn) rs767865960 0.00001
NM_001122752.2(SERPINI1):c.1157-18A>T rs748793909 0.00001
NM_001122752.2(SERPINI1):c.1157G>A (p.Gly386Asp) rs772353205 0.00001
NM_001122752.2(SERPINI1):c.115G>A (p.Ala39Thr) rs1307825318 0.00001
NM_001122752.2(SERPINI1):c.1178G>A (p.Arg393Gln) rs1712479291 0.00001
NM_001122752.2(SERPINI1):c.1186C>T (p.His396Tyr) rs750646140 0.00001
NM_001122752.2(SERPINI1):c.132A>G (p.Glu44=) rs1560008693 0.00001
NM_001122752.2(SERPINI1):c.133A>G (p.Asn45Asp) rs769089864 0.00001
NM_001122752.2(SERPINI1):c.144C>A (p.Phe48Leu) rs776746623 0.00001
NM_001122752.2(SERPINI1):c.147T>C (p.Ser49=) rs1450628576 0.00001
NM_001122752.2(SERPINI1):c.14G>T (p.Gly5Val) rs1727409924 0.00001
NM_001122752.2(SERPINI1):c.166G>T (p.Ala56Ser) rs1050971384 0.00001
NM_001122752.2(SERPINI1):c.173G>A (p.Gly58Glu) rs548008493 0.00001
NM_001122752.2(SERPINI1):c.198A>G (p.Gly66=) rs1288169432 0.00001
NM_001122752.2(SERPINI1):c.20T>C (p.Phe7Ser) rs191197474 0.00001
NM_001122752.2(SERPINI1):c.228G>A (p.Met76Ile) rs1365019307 0.00001
NM_001122752.2(SERPINI1):c.250+11T>C rs1245102198 0.00001
NM_001122752.2(SERPINI1):c.250+5G>A rs1447537890 0.00001
NM_001122752.2(SERPINI1):c.251-18T>C rs565445764 0.00001
NM_001122752.2(SERPINI1):c.302A>T (p.Glu101Val) rs749315755 0.00001
NM_001122752.2(SERPINI1):c.303G>A (p.Glu101=) rs771348316 0.00001
NM_001122752.2(SERPINI1):c.306C>T (p.Ser102=) rs1727464431 0.00001
NM_001122752.2(SERPINI1):c.312T>C (p.Tyr104=) rs369928717 0.00001
NM_001122752.2(SERPINI1):c.317T>A (p.Met106Lys) rs768598501 0.00001
NM_001122752.2(SERPINI1):c.332C>T (p.Ser111Phe) rs769602150 0.00001
NM_001122752.2(SERPINI1):c.342G>A (p.Val114=) rs373426986 0.00001
NM_001122752.2(SERPINI1):c.352T>C (p.Phe118Leu) rs1019788948 0.00001
NM_001122752.2(SERPINI1):c.360C>T (p.Val120=) rs1021903415 0.00001
NM_001122752.2(SERPINI1):c.38A>G (p.Gln13Arg) rs1727411203 0.00001
NM_001122752.2(SERPINI1):c.438C>T (p.Ala146=) rs769806907 0.00001
NM_001122752.2(SERPINI1):c.43A>G (p.Met15Val) rs1727411590 0.00001
NM_001122752.2(SERPINI1):c.446A>C (p.Asn149Thr) rs779736255 0.00001
NM_001122752.2(SERPINI1):c.473A>G (p.Asn158Ser) rs767144751 0.00001
NM_001122752.2(SERPINI1):c.481+4T>C rs1191891165 0.00001
NM_001122752.2(SERPINI1):c.482-5A>G rs1382961035 0.00001
NM_001122752.2(SERPINI1):c.48T>A (p.Ala16=) rs138644986 0.00001
NM_001122752.2(SERPINI1):c.493G>A (p.Asp165Asn) rs1453020878 0.00001
NM_001122752.2(SERPINI1):c.502T>A (p.Ser168Thr) rs1387712556 0.00001
NM_001122752.2(SERPINI1):c.526A>G (p.Thr176Ala) rs762427588 0.00001
NM_001122752.2(SERPINI1):c.53G>C (p.Gly18Ala) rs577994777 0.00001
NM_001122752.2(SERPINI1):c.554A>G (p.Tyr185Cys) rs1448356396 0.00001
NM_001122752.2(SERPINI1):c.55G>A (p.Ala19Thr) rs1344969234 0.00001
NM_001122752.2(SERPINI1):c.56C>T (p.Ala19Val) rs768750627 0.00001
NM_001122752.2(SERPINI1):c.575C>T (p.Ser192Leu) rs777452195 0.00001
NM_001122752.2(SERPINI1):c.582T>C (p.Phe194=) rs370446701 0.00001
NM_001122752.2(SERPINI1):c.596C>T (p.Thr199Ile) rs61761892 0.00001
NM_001122752.2(SERPINI1):c.676+9T>C rs773872160 0.00001
NM_001122752.2(SERPINI1):c.677-20G>A rs372974126 0.00001
NM_001122752.2(SERPINI1):c.684T>C (p.Phe228=) rs557897218 0.00001
NM_001122752.2(SERPINI1):c.69G>C (p.Glu23Asp) rs563633471 0.00001
NM_001122752.2(SERPINI1):c.703G>T (p.Ala235Ser) rs774334657 0.00001
NM_001122752.2(SERPINI1):c.717C>T (p.Tyr239=) rs775700678 0.00001
NM_001122752.2(SERPINI1):c.726A>G (p.Leu242=) rs368762906 0.00001
NM_001122752.2(SERPINI1):c.738T>C (p.Tyr246=) rs758312709 0.00001
NM_001122752.2(SERPINI1):c.747T>C (p.Asp249=) rs751092222 0.00001
NM_001122752.2(SERPINI1):c.754A>G (p.Ser252Gly) rs1439828732 0.00001
NM_001122752.2(SERPINI1):c.778C>A (p.Gln260Lys) rs780784169 0.00001
NM_001122752.2(SERPINI1):c.788C>T (p.Pro263Leu) rs1161761699 0.00001
NM_001122752.2(SERPINI1):c.796A>G (p.Thr266Ala) rs1210708843 0.00001
NM_001122752.2(SERPINI1):c.841A>C (p.Asn281His) rs151212615 0.00001
NM_001122752.2(SERPINI1):c.846T>C (p.Ser282=) rs1409356508 0.00001
NM_001122752.2(SERPINI1):c.854A>C (p.Lys285Thr) rs772141992 0.00001
NM_001122752.2(SERPINI1):c.862G>A (p.Val288Ile) rs760906938 0.00001
NM_001122752.2(SERPINI1):c.876G>T (p.Leu292=) rs2108559999 0.00001
NM_001122752.2(SERPINI1):c.881+13T>G rs372395802 0.00001
NM_001122752.2(SERPINI1):c.90A>C (p.Ser30=) rs1423056952 0.00001
NM_001122752.2(SERPINI1):c.914A>T (p.Asp305Val) rs756818970 0.00001
NM_001122752.2(SERPINI1):c.957T>C (p.Asp319=) rs1711682457 0.00001
NM_001122752.2(SERPINI1):c.965T>G (p.Leu322Trp) rs1271122328 0.00001
NM_001122752.2(SERPINI1):c.972C>A (p.Gly324=) rs554583291 0.00001
NM_001122752.2(SERPINI1):c.979+4A>C rs768731891 0.00001
NM_001122752.2(SERPINI1):c.982A>C (p.Asn328His) rs997668232 0.00001
NM_006267.5(RANBP2):c.1043G>T (p.Cys348Phe) rs1252035467 0.00001
NM_006267.5(RANBP2):c.1063+17A>G rs1267316826 0.00001
NM_006267.5(RANBP2):c.1063+8dup rs1340429121 0.00001
NM_006267.5(RANBP2):c.1065G>A (p.Gly355=) rs753909167 0.00001
NM_006267.5(RANBP2):c.1070T>C (p.Met357Thr) rs752527357 0.00001
NM_006267.5(RANBP2):c.1088G>A (p.Arg363His) rs550471130 0.00001
NM_006267.5(RANBP2):c.1149T>C (p.Ser383=) rs767259689 0.00001
NM_006267.5(RANBP2):c.1190A>G (p.Asp397Gly) rs376733981 0.00001
NM_006267.5(RANBP2):c.1213G>A (p.Asp405Asn) rs750123699 0.00001
NM_006267.5(RANBP2):c.1235G>A (p.Arg412Gln) rs544178123 0.00001
NM_006267.5(RANBP2):c.1252G>T (p.Asp418Tyr) rs769995347 0.00001
NM_006267.5(RANBP2):c.1270G>A (p.Val424Ile) rs761793907 0.00001
NM_006267.5(RANBP2):c.1273+9T>C rs374341209 0.00001
NM_006267.5(RANBP2):c.1283G>A (p.Arg428Gln) rs1359594543 0.00001
NM_006267.5(RANBP2):c.1398T>C (p.His466=) rs746894026 0.00001
NM_006267.5(RANBP2):c.143A>T (p.Tyr48Phe) rs780017280 0.00001
NM_006267.5(RANBP2):c.156C>T (p.Tyr52=) rs1460131690 0.00001
NM_006267.5(RANBP2):c.1632-9A>G rs949749735 0.00001
NM_006267.5(RANBP2):c.1641C>T (p.Asn547=) rs1255583041 0.00001
NM_006267.5(RANBP2):c.1643T>C (p.Val548Ala) rs3872469 0.00001
NM_006267.5(RANBP2):c.1684C>T (p.Leu562=) rs768918867 0.00001
NM_006267.5(RANBP2):c.1690G>A (p.Ala564Thr) rs1675915650 0.00001
NM_006267.5(RANBP2):c.1702C>T (p.His568Tyr) rs1675916733 0.00001
NM_006267.5(RANBP2):c.1752A>G (p.Lys584=) rs1265691982 0.00001
NM_006267.5(RANBP2):c.1754C>T (p.Thr585Met) rs121434502 0.00001
NM_006267.5(RANBP2):c.1755G>A (p.Thr585=) rs1558903324 0.00001
NM_006267.5(RANBP2):c.1756-10T>C rs1415257790 0.00001
NM_006267.5(RANBP2):c.1756-15A>C rs1005769858 0.00001
NM_006267.5(RANBP2):c.1787G>A (p.Arg596Gln) rs753106584 0.00001
NM_006267.5(RANBP2):c.1794C>T (p.Tyr598=) rs747297122 0.00001
NM_006267.5(RANBP2):c.1796T>G (p.Ile599Arg) rs771128114 0.00001
NM_006267.5(RANBP2):c.1834T>C (p.Leu612=) rs1676030387 0.00001
NM_006267.5(RANBP2):c.1862G>A (p.Ser621Asn) rs1298841292 0.00001
NM_006267.5(RANBP2):c.1876A>G (p.Ile626Val) rs537490309 0.00001
NM_006267.5(RANBP2):c.1904G>C (p.Ser635Thr) rs1402462462 0.00001
NM_006267.5(RANBP2):c.1918-16dup rs1305826512 0.00001
NM_006267.5(RANBP2):c.1918-17del rs1218755922 0.00001
NM_006267.5(RANBP2):c.1923A>G (p.Ser641=) rs1474061823 0.00001
NM_006267.5(RANBP2):c.1948G>A (p.Ala650Thr) rs757637271 0.00001
NM_006267.5(RANBP2):c.1952A>G (p.His651Arg) rs750660048 0.00001
NM_006267.5(RANBP2):c.1964C>G (p.Ala655Gly) rs1212204319 0.00001
NM_006267.5(RANBP2):c.1967T>C (p.Ile656Thr) rs1204704940 0.00001
NM_006267.5(RANBP2):c.1968A>G (p.Ile656Met) rs748053086 0.00001
NM_006267.5(RANBP2):c.1991T>C (p.Ile664Thr) rs770464476 0.00001
NM_006267.5(RANBP2):c.2002G>A (p.Val668Met) rs2433790 0.00001
NM_006267.5(RANBP2):c.2006C>A (p.Thr669Asn) rs1382292959 0.00001
NM_006267.5(RANBP2):c.2008G>A (p.Ala670Thr) rs774851788 0.00001
NM_006267.5(RANBP2):c.2015A>G (p.Glu672Gly) rs767990485 0.00001
NM_006267.5(RANBP2):c.2018C>G (p.Ser673Cys) rs756408556 0.00001
NM_006267.5(RANBP2):c.2023A>G (p.Lys675Glu) rs754073152 0.00001
NM_006267.5(RANBP2):c.2038T>C (p.Tyr680His) rs1201175872 0.00001
NM_006267.5(RANBP2):c.2055+6T>C rs1676074087 0.00001
NM_006267.5(RANBP2):c.2056-4A>T rs372329184 0.00001
NM_006267.5(RANBP2):c.2157A>T (p.Ile719=) rs1052526699 0.00001
NM_006267.5(RANBP2):c.2198A>G (p.Lys733Arg) rs1251882959 0.00001
NM_006267.5(RANBP2):c.2202+3A>G rs1451783103 0.00001
NM_006267.5(RANBP2):c.2244A>G (p.Ser748=) rs1488046156 0.00001
NM_006267.5(RANBP2):c.2337A>C (p.Thr779=) rs755384601 0.00001
NM_006267.5(RANBP2):c.2344C>G (p.Pro782Ala) rs1220477512 0.00001
NM_006267.5(RANBP2):c.2448A>G (p.Gln816=) rs1378498878 0.00001
NM_006267.5(RANBP2):c.2507C>T (p.Ala836Val) rs762106093 0.00001
NM_006267.5(RANBP2):c.2511C>A (p.Ser837=) rs767864047 0.00001
NM_006267.5(RANBP2):c.2603-3T>C rs2912832 0.00001
NM_006267.5(RANBP2):c.274A>G (p.Thr92Ala) rs766491918 0.00001
NM_006267.5(RANBP2):c.2754G>A (p.Pro918=) rs542711340 0.00001
NM_006267.5(RANBP2):c.2766C>T (p.His922=) rs1676869771 0.00001
NM_006267.5(RANBP2):c.2798T>C (p.Met933Thr) rs750836271 0.00001
NM_006267.5(RANBP2):c.2829A>G (p.Ala943=) rs372791515 0.00001
NM_006267.5(RANBP2):c.2862A>G (p.Leu954=) rs374697321 0.00001
NM_006267.5(RANBP2):c.2873G>T (p.Gly958Val) rs1676882455 0.00001
NM_006267.5(RANBP2):c.297G>T (p.Lys99Asn) rs778799923 0.00001
NM_006267.5(RANBP2):c.2995A>G (p.Ile999Val) rs776885563 0.00001
NM_006267.5(RANBP2):c.3010A>G (p.Thr1004Ala) rs1264589423 0.00001
NM_006267.5(RANBP2):c.3011C>T (p.Thr1004Ile) rs1416817626 0.00001
NM_006267.5(RANBP2):c.3032C>T (p.Pro1011Leu) rs777962677 0.00001
NM_006267.5(RANBP2):c.3035G>T (p.Gly1012Val) rs149826319 0.00001
NM_006267.5(RANBP2):c.3060A>G (p.Pro1020=) rs1312609974 0.00001
NM_006267.5(RANBP2):c.3153T>C (p.Val1051=) rs372530448 0.00001
NM_006267.5(RANBP2):c.3220A>G (p.Lys1074Glu) rs372948464 0.00001
NM_006267.5(RANBP2):c.3242A>G (p.Tyr1081Cys) rs753740982 0.00001
NM_006267.5(RANBP2):c.3273A>T (p.Gln1091His) rs770365585 0.00001
NM_006267.5(RANBP2):c.3351G>A (p.Ser1117=) rs746610775 0.00001
NM_006267.5(RANBP2):c.3380G>A (p.Arg1127Gln) rs531942994 0.00001
NM_006267.5(RANBP2):c.3384T>G (p.Ser1128Arg) rs771199260 0.00001
NM_006267.5(RANBP2):c.3399T>G (p.Thr1133=) rs1676931793 0.00001
NM_006267.5(RANBP2):c.3416A>C (p.Lys1139Thr) rs751281688 0.00001
NM_006267.5(RANBP2):c.3485A>T (p.His1162Leu) rs1306184111 0.00001
NM_006267.5(RANBP2):c.374T>G (p.Phe125Cys) rs753998662 0.00001
NM_006267.5(RANBP2):c.3754A>T (p.Met1252Leu) rs1288871552 0.00001
NM_006267.5(RANBP2):c.3860C>T (p.Thr1287Ile) rs764830622 0.00001
NM_006267.5(RANBP2):c.3920C>T (p.Ala1307Val) rs780260112 0.00001
NM_006267.5(RANBP2):c.4026G>T (p.Leu1342=) rs1676976328 0.00001
NM_006267.5(RANBP2):c.4139C>G (p.Pro1380Arg) rs764217841 0.00001
NM_006267.5(RANBP2):c.4162C>T (p.Pro1388Ser) rs1676988149 0.00001
NM_006267.5(RANBP2):c.4177A>G (p.Thr1393Ala) rs755907947 0.00001
NM_006267.5(RANBP2):c.4253A>G (p.His1418Arg) rs1478874755 0.00001
NM_006267.5(RANBP2):c.432A>G (p.Glu144=) rs915340430 0.00001
NM_006267.5(RANBP2):c.4350A>G (p.Ser1450=) rs530138739 0.00001
NM_006267.5(RANBP2):c.4404T>C (p.Ile1468=) rs1410952858 0.00001
NM_006267.5(RANBP2):c.4473A>G (p.Gln1491=) rs370666741 0.00001
NM_006267.5(RANBP2):c.4508A>T (p.Gln1503Leu) rs969517784 0.00001
NM_006267.5(RANBP2):c.4823G>A (p.Gly1608Glu) rs1474762664 0.00001
NM_006267.5(RANBP2):c.4830G>C (p.Trp1610Cys) rs201397627 0.00001
NM_006267.5(RANBP2):c.4856A>G (p.Asn1619Ser) rs1482959608 0.00001
NM_006267.5(RANBP2):c.4929A>C (p.Ser1643=) rs569913859 0.00001
NM_006267.5(RANBP2):c.4972T>G (p.Phe1658Val) rs755016899 0.00001
NM_006267.5(RANBP2):c.4981A>C (p.Met1661Leu) rs551971749 0.00001
NM_006267.5(RANBP2):c.507C>G (p.Ile169Met) rs1443220796 0.00001
NM_006267.5(RANBP2):c.5096C>T (p.Ser1699Phe) rs1553496280 0.00001
NM_006267.5(RANBP2):c.5099C>G (p.Ala1700Gly) rs112643545 0.00001
NM_006267.5(RANBP2):c.5123A>G (p.Glu1708Gly) rs150813785 0.00001
NM_006267.5(RANBP2):c.5180A>G (p.Gln1727Arg) rs748698402 0.00001
NM_006267.5(RANBP2):c.5210A>G (p.Asn1737Ser) rs941661906 0.00001
NM_006267.5(RANBP2):c.5251A>G (p.Ser1751Gly) rs1249787158 0.00001
NM_006267.5(RANBP2):c.5416G>A (p.Ala1806Thr) rs1254763456 0.00001
NM_006267.5(RANBP2):c.541T>C (p.Leu181=) rs939517014 0.00001
NM_006267.5(RANBP2):c.542T>G (p.Leu181Trp) rs1231915444 0.00001
NM_006267.5(RANBP2):c.5452C>T (p.Pro1818Ser) rs1291246599 0.00001
NM_006267.5(RANBP2):c.5825G>T (p.Ser1942Ile) rs201476147 0.00001
NM_006267.5(RANBP2):c.593G>A (p.Arg198His) rs757718519 0.00001
NM_006267.5(RANBP2):c.5983G>A (p.Asp1995Asn) rs1206917390 0.00001
NM_006267.5(RANBP2):c.5995G>T (p.Asp1999Tyr) rs779917838 0.00001
NM_006267.5(RANBP2):c.5996A>T (p.Asp1999Val) rs749247854 0.00001
NM_006267.5(RANBP2):c.6025G>A (p.Asp2009Asn) rs1159887089 0.00001
NM_006267.5(RANBP2):c.6033C>T (p.Ile2011=) rs1360566375 0.00001
NM_006267.5(RANBP2):c.615G>A (p.Ser205=) rs1223310052 0.00001
NM_006267.5(RANBP2):c.6272C>T (p.Thr2091Ile) rs1558925587 0.00001
NM_006267.5(RANBP2):c.6275C>T (p.Thr2092Met) rs760931362 0.00001
NM_006267.5(RANBP2):c.6311C>T (p.Ala2104Val) rs1677155123 0.00001
NM_006267.5(RANBP2):c.6592G>T (p.Gly2198Cys) rs776975475 0.00001
NM_006267.5(RANBP2):c.6698C>T (p.Ala2233Val) rs753471961 0.00001
NM_006267.5(RANBP2):c.6830C>T (p.Pro2277Leu) rs2433707 0.00001
NM_006267.5(RANBP2):c.6844G>T (p.Ala2282Ser) rs762456750 0.00001
NM_006267.5(RANBP2):c.6955C>T (p.Leu2319=) rs759284450 0.00001
NM_006267.5(RANBP2):c.7026T>C (p.Tyr2342=) rs755317084 0.00001
NM_006267.5(RANBP2):c.715T>A (p.Tyr239Asn) rs1405042231 0.00001
NM_006267.5(RANBP2):c.7293G>T (p.Ser2431=) rs774092353 0.00001
NM_006267.5(RANBP2):c.745A>G (p.Thr249Ala) rs372262830 0.00001
NM_006267.5(RANBP2):c.7462G>A (p.Val2488Ile) rs760616302 0.00001
NM_006267.5(RANBP2):c.746C>T (p.Thr249Ile) rs769368705 0.00001
NM_006267.5(RANBP2):c.7550G>T (p.Gly2517Val) rs2949963 0.00001
NM_006267.5(RANBP2):c.7596A>G (p.Pro2532=) rs1677242055 0.00001
NM_006267.5(RANBP2):c.7602A>G (p.Ala2534=) rs759564858 0.00001
NM_006267.5(RANBP2):c.7690G>T (p.Ala2564Ser) rs749950831 0.00001
NM_006267.5(RANBP2):c.783-7A>G rs1455946339 0.00001
NM_006267.5(RANBP2):c.7933A>C (p.Lys2645Gln) rs1006200808 0.00001
NM_006267.5(RANBP2):c.7943C>T (p.Ala2648Val) rs1306346763 0.00001
NM_006267.5(RANBP2):c.8021-7T>C rs1573833135 0.00001
NM_006267.5(RANBP2):c.80T>C (p.Met27Thr) rs1181847894 0.00001
NM_006267.5(RANBP2):c.8190A>C (p.Lys2730Asn) rs1160561861 0.00001
NM_006267.5(RANBP2):c.8254G>C (p.Asp2752His) rs1677616367 0.00001
NM_006267.5(RANBP2):c.8334A>G (p.Val2778=) rs758018669 0.00001
NM_006267.5(RANBP2):c.83A>G (p.Lys28Arg) rs1250035178 0.00001
NM_006267.5(RANBP2):c.8415A>G (p.Ser2805=) rs751209914 0.00001
NM_006267.5(RANBP2):c.8491A>T (p.Ser2831Cys) rs368434436 0.00001
NM_006267.5(RANBP2):c.8497+8_8497+10del rs1573843165 0.00001
NM_006267.5(RANBP2):c.8729T>C (p.Ile2910Thr) rs575473077 0.00001
NM_006267.5(RANBP2):c.8761-7A>G rs752737645 0.00001
NM_006267.5(RANBP2):c.9033T>C (p.Ala3011=) rs1463897413 0.00001
NM_006267.5(RANBP2):c.917A>G (p.Asn306Ser) rs565225481 0.00001
NM_006267.5(RANBP2):c.9236G>A (p.Arg3079Gln) rs532940205 0.00001
NM_006267.5(RANBP2):c.9243T>C (p.Thr3081=) rs752209534 0.00001
NM_006267.5(RANBP2):c.931G>A (p.Ala311Thr) rs763374992 0.00001
NM_006267.5(RANBP2):c.9354A>G (p.Pro3118=) rs201982385 0.00001
NM_006267.5(RANBP2):c.9405A>G (p.Gly3135=) rs1553503136 0.00001
NM_006267.5(RANBP2):c.9408G>A (p.Gln3136=) rs1429024597 0.00001
NM_006267.5(RANBP2):c.9435T>C (p.Asp3145=) rs773867401 0.00001
NM_006267.5(RANBP2):c.9504T>C (p.Asn3168=) rs781044168 0.00001
NM_006267.5(RANBP2):c.9603G>T (p.Lys3201Asn) rs778121827 0.00001
NM_006267.5(RANBP2):c.9604A>G (p.Ile3202Val) rs1678424306 0.00001
NM_014297.5(ETHE1):c.120G>A (p.Leu40=) rs1972254795 0.00001
NM_014297.5(ETHE1):c.162C>A (p.Val54=) rs1454201974 0.00001
NM_014297.5(ETHE1):c.187C>T (p.Gln63Ter) rs368778231 0.00001
NM_014297.5(ETHE1):c.18G>A (p.Leu6=) rs766437972 0.00001
NM_014297.5(ETHE1):c.192G>A (p.Leu64=) rs770231147 0.00001
NM_014297.5(ETHE1):c.197A>G (p.Lys66Arg) rs777252863 0.00001
NM_014297.5(ETHE1):c.228G>A (p.Val76=) rs1463683010 0.00001
NM_014297.5(ETHE1):c.236A>G (p.His79Arg) rs778409766 0.00001
NM_014297.5(ETHE1):c.261C>T (p.Gly87=) rs1450459330 0.00001
NM_014297.5(ETHE1):c.289G>C (p.Gly97Arg) rs767381092 0.00001
NM_014297.5(ETHE1):c.306C>T (p.Ile102=) rs1972243697 0.00001
NM_014297.5(ETHE1):c.317G>A (p.Ser106Asn) rs886054480 0.00001
NM_014297.5(ETHE1):c.356C>T (p.Ser119Phe) rs772537157 0.00001
NM_014297.5(ETHE1):c.357C>T (p.Ser119=) rs759810296 0.00001
NM_014297.5(ETHE1):c.375+9G>C rs1972240632 0.00001
NM_014297.5(ETHE1):c.377C>T (p.Ala126Val) rs768418351 0.00001
NM_014297.5(ETHE1):c.388del (p.Arg130fs) rs1236038385 0.00001
NM_014297.5(ETHE1):c.391G>A (p.Ala131Thr) rs1017886002 0.00001
NM_014297.5(ETHE1):c.401_402del (p.Gly134fs) rs1210404401 0.00001
NM_014297.5(ETHE1):c.417T>C (p.Cys139=) rs1472850646 0.00001
NM_014297.5(ETHE1):c.420C>T (p.Val140=) rs374482389 0.00001
NM_014297.5(ETHE1):c.471G>A (p.Leu157=) rs761398149 0.00001
NM_014297.5(ETHE1):c.480G>A (p.Gly160=) rs375313283 0.00001
NM_014297.5(ETHE1):c.489G>A (p.Arg163=) rs533076307 0.00001
NM_014297.5(ETHE1):c.48C>G (p.Arg16=) rs775755606 0.00001
NM_014297.5(ETHE1):c.494A>G (p.Asp165Gly) rs756235299 0.00001
NM_014297.5(ETHE1):c.505+18C>T rs1216102009 0.00001
NM_014297.5(ETHE1):c.505+1G>A rs935855792 0.00001
NM_014297.5(ETHE1):c.505+5C>T rs748284674 0.00001
NM_014297.5(ETHE1):c.506-10C>G rs763562161 0.00001
NM_014297.5(ETHE1):c.506-2A>G rs2145979349 0.00001
NM_014297.5(ETHE1):c.506-8T>A rs199770863 0.00001
NM_014297.5(ETHE1):c.522G>A (p.Leu174=) rs745674809 0.00001
NM_014297.5(ETHE1):c.528C>T (p.His176=) rs767337197 0.00001
NM_014297.5(ETHE1):c.540A>G (p.Glu180=) rs2145979198 0.00001
NM_014297.5(ETHE1):c.543G>A (p.Lys181=) rs1448425624 0.00001
NM_014297.5(ETHE1):c.551C>A (p.Thr184Lys) rs377420663 0.00001
NM_014297.5(ETHE1):c.552A>C (p.Thr184=) rs780550549 0.00001
NM_014297.5(ETHE1):c.554T>G (p.Leu185Arg) rs387906987 0.00001
NM_014297.5(ETHE1):c.595+10T>C rs2145978928 0.00001
NM_014297.5(ETHE1):c.595+14G>A rs1418627402 0.00001
NM_014297.5(ETHE1):c.595+2T>G rs761661864 0.00001
NM_014297.5(ETHE1):c.596-18C>T rs1971831880 0.00001
NM_014297.5(ETHE1):c.596-7C>T rs751515256 0.00001
NM_014297.5(ETHE1):c.596-8G>A rs759099758 0.00001
NM_014297.5(ETHE1):c.608C>T (p.Ser203Phe) rs267605525 0.00001
NM_014297.5(ETHE1):c.645C>T (p.Leu215=) rs1460643071 0.00001
NM_014297.5(ETHE1):c.708G>T (p.Gln236His) rs1218439131 0.00001
NM_014297.5(ETHE1):c.725C>T (p.Pro242Leu) rs753671768 0.00001
NM_014297.5(ETHE1):c.757A>G (p.Thr253Ala) rs1971779762 0.00001
NM_014297.5(ETHE1):c.759T>G (p.Thr253=) rs765888263 0.00001
NM_014297.5(ETHE1):c.762C>A (p.Ala254=) rs777230548 0.00001
NM_014297.5(ETHE1):c.79C>T (p.Gln27Ter) rs749803238 0.00001
NM_014297.5(ETHE1):c.81+4C>T rs1303226610 0.00001
NM_014297.5(ETHE1):c.82-12C>T rs781651899 0.00001
NM_014297.5(ETHE1):c.82-13C>T rs748543403 0.00001
NM_014297.5(ETHE1):c.82-15G>C rs1972256672 0.00001
NM_014297.5(ETHE1):c.82-20C>T rs770274819 0.00001
NM_014297.5(ETHE1):c.90G>A (p.Glu30=) rs1972255989 0.00001
NC_000002.11:g.(?_108604612)_(109336154_?)dup
NC_000002.11:g.(?_108604612)_(109378671_?)dup
NC_000002.11:g.(?_108604612)_(109579739_?)del
NC_000002.11:g.(?_108604612)_(109579739_?)dup
NC_000002.11:g.(?_109336063)_(109547470_?)del
NC_000002.11:g.(?_109336063)_(109579739_?)dup
NC_000002.11:g.(?_109347210)_(109392412_?)dup
NC_000002.11:g.(?_109356925)_(109357157_?)del
NC_000002.11:g.(?_109363147)_(109368470_?)del
NC_000002.11:g.(?_109363147)_(109370447_?)dup
NC_000002.11:g.(?_109363157)_(109363264_?)dup
NC_000002.11:g.(?_109367700)_(109368470_?)del
NC_000002.11:g.(?_109368307)_(109370039_?)del
NC_000002.11:g.(?_109368307)_(109370039_?)dup
NC_000002.11:g.(?_109368307)_(109579739_?)del
NC_000002.11:g.(?_109368307)_(109579739_?)dup
NC_000002.12:g.(?_108719587)_(108740701_?)del
NC_000002.12:g.(?_108719587)_(108963283_?)del
NC_000002.12:g.(?_108729112)_(108963283_?)dup
NC_000003.11:g.(?_167402096)_(167543111_?)dup
NC_000003.11:g.(?_167437830)_(167543111_?)del
NC_000003.11:g.(?_167506917)_(167508410_?)del
NC_000003.12:g.(?_167684288)_(167825343_?)dup
NC_000003.12:g.(?_167822966)_(167825343_?)del
NC_000019.10:g.(?_43506840)_(43511576_?)del
NC_000019.10:g.(?_43506840)_(43527187_?)del
NC_000019.10:g.43527263_43527264delinsAA rs2513632085
NC_000019.9:g.(?_44011002)_(45213778_?)dup
NC_000019.9:g.(?_44011044)_(44014899_?)del
NC_000019.9:g.(?_44012086)_(44013026_?)del
NC_000019.9:g.(?_44015569)_(44015738_?)del
NC_000019.9:g.(?_44015579)_(44031339_?)del
NC_000019.9:g.(?_44030333)_(44031420_?)del
NC_000023.10:g.(?_152482081)_(153416424_?)del
NC_000023.10:g.(?_152954010)_(153363142_?)dup
NC_000023.10:g.(?_152954010)_(153599633_?)dup
NC_000023.10:g.(?_153128098)_(153363142_?)dup
NC_000023.10:g.(?_153128098)_(153599633_?)dup
NC_000023.10:g.(?_153128118)_(153416424_?)dup
NC_000023.10:g.(?_153128823)_(153416424_?)dup
NC_000023.10:g.(?_153137587)_(153363142_?)dup
NC_000023.10:g.(?_153170600)_(153409869_?)dup
NC_000023.10:g.(?_153184286)_(153409869_?)dup
NC_000023.10:g.(?_153195397)_(153642547_?)dup
NC_000023.10:g.(?_153277310)_(153298028_?)del
NC_000023.10:g.(?_153279389)_(153296228_?)del
NC_000023.10:g.(?_153285725)_(153296182_?)del
NC_000023.10:g.(?_153288018)_(153296120_?)del
NC_000023.10:g.(?_153292262)_(153297628_?)del
NC_000023.10:g.(?_153292375)_(153296122_?)del
NC_000023.10:g.(?_153292923)_(153296117_?)del
NC_000023.10:g.(?_153294907)_(153296120_?)del
NC_000023.10:g.(?_153294955)_(153296040_?)del
NC_000023.10:g.(?_153295063)_(153296130_?)del
NC_000023.10:g.(?_153295250)_(153296129_?)del
NC_000023.10:g.(?_153295412)_(153306710_?)del
NC_000023.10:g.(?_153295424)_(153296139_?)del
NC_000023.10:g.(?_153295526)_(153296087_?)del
NC_000023.10:g.(?_153295580)_(153296752_?)del
NC_000023.10:g.(?_153295726)_(153298028_?)del
NC_000023.10:g.(?_153295726)_(153298028_?)dup
NC_000023.10:g.(?_153295726)_(153363142_?)dup
NC_000023.10:g.(?_153295726)_(153596478_?)dup
NC_000023.10:g.(?_153295726)_(153599633_?)dup
NC_000023.10:g.(?_153295726)_(153786885_?)dup
NC_000023.10:g.(?_153295798)_(153298028_?)del
NC_000023.10:g.(?_153295818)_(153298028_?)dup
NC_000023.10:g.(?_153295885)_(153296418_?)del
NC_000023.10:g.(?_153295985)_(153299903_?)del
NC_000023.10:g.(?_153296038)_(153299936_?)del
NC_000023.10:g.(?_153296083)_(153297178_?)del
NC_000023.10:g.(?_153296084)_(153300925_?)del
NC_000023.10:g.(?_153296084)_(153338974_?)del
NC_000023.10:g.(?_153296086)_(153297264_?)del
NC_000023.10:g.(?_153296091)_(153303781_?)del
NC_000023.10:g.(?_153296093)_(153303797_?)del
NC_000023.10:g.(?_153296108)_(153301856_?)del
NC_000023.10:g.(?_153296109)_(153297633_?)del
NC_000023.10:g.(?_153296109)_(153302497_?)del
NC_000023.10:g.(?_153296112)_(153302496_?)del
NC_000023.10:g.(?_153296119)_(153305088_?)del
NC_000023.10:g.(?_153296122)_(153316446_?)dup
NC_000023.10:g.(?_153296136)_(153302300_?)del
NC_000023.10:g.(?_153296141)_(153303786_?)del
NC_000023.10:g.(?_153296154)_153302832del
NC_000023.10:g.(?_153296180)_(153302766_?)del
NC_000023.10:g.(?_153296231)_(153303837_?)del
NC_000023.10:g.(?_153296339)_(153306264_?)del
NC_000023.10:g.(?_153297634)_(153298028_?)del
NC_000023.10:g.(?_153297634)_(153298028_?)dup
NC_000023.10:g.(?_153357622)_(153363122_?)dup
NC_000023.10:g.(?_153357622)_(153363142_?)del
NC_000023.10:g.(?_153357632)_(153363122_?)del
NC_000023.10:g.(?_153363041)_(153363142_?)del
NM_001110792.2(MECP2):c.-2_15del (p.Met1fs) rs2522550197
NM_001110792.2(MECP2):c.-31AG[2] rs587783128
NM_001110792.2(MECP2):c.1000C>G (p.Pro334Ala) rs61751449
NM_001110792.2(MECP2):c.1000C>T (p.Pro334Ser) rs61751449
NM_001110792.2(MECP2):c.1001C>T (p.Pro334Leu) rs61751450
NM_001110792.2(MECP2):c.1006C>G (p.Leu336Val) rs2065934195
NM_001110792.2(MECP2):c.1007_1364del (p.Leu336fs) rs2522039598
NM_001110792.2(MECP2):c.1008G>C (p.Leu336=) rs782611101
NM_001110792.2(MECP2):c.1014C>A (p.Ser338=) rs374670136
NM_001110792.2(MECP2):c.1014C>T (p.Ser338=) rs374670136
NM_001110792.2(MECP2):c.1019_1233del (p.Leu340fs) rs2065914451
NM_001110792.2(MECP2):c.1020C>A (p.Leu340=) rs61751442
NM_001110792.2(MECP2):c.1020C>G (p.Leu340=) rs61751442
NM_001110792.2(MECP2):c.1020_1021insA (p.Gly341fs) rs2148661665
NM_001110792.2(MECP2):c.1026G>C (p.Glu342Asp) rs2522063184
NM_001110792.2(MECP2):c.1028A>G (p.Lys343Arg) rs267608557
NM_001110792.2(MECP2):c.1029G>C (p.Lys343Asn) rs2522063065
NM_001110792.2(MECP2):c.1030A>G (p.Ser344Gly) rs2148661618
NM_001110792.2(MECP2):c.1030_1031del (p.Ser344fs) rs2522062937
NM_001110792.2(MECP2):c.1033_1037del (p.Gly345fs) rs1569548376
NM_001110792.2(MECP2):c.1035G>A (p.Gly345=) rs61751451
NM_001110792.2(MECP2):c.1043_1230del (p.Leu348fs) rs1557135418
NM_001110792.2(MECP2):c.1044G>A (p.Leu348=) rs2522062441
NM_001110792.2(MECP2):c.1050C>T (p.Thr350=) rs267608400
NM_001110792.2(MECP2):c.1055dup (p.Ser353fs) rs1557136059
NM_001110792.2(MECP2):c.1060C>A (p.Pro354Thr) rs1557136054
NM_001110792.2(MECP2):c.1061C>G (p.Pro354Arg) rs1569548372
NM_001110792.2(MECP2):c.1064_1246del (p.Gly355_Pro415del) rs1603307609
NM_001110792.2(MECP2):c.1068G>A (p.Arg356=)
NM_001110792.2(MECP2):c.1072A>G (p.Ser358Gly) rs2148661474
NM_001110792.2(MECP2):c.1074C>G (p.Ser358Arg) rs61752365
NM_001110792.2(MECP2):c.1075A>C (p.Lys359Gln) rs2148661453
NM_001110792.2(MECP2):c.1075_1300delinsCCAAAGGCCCCCGTGCCACT (p.Lys359fs) rs2522042642
NM_001110792.2(MECP2):c.1078_1248delinsT (p.Glu360fs) rs2522045420
NM_001110792.2(MECP2):c.1080G>C (p.Glu360Asp) rs2522060969
NM_001110792.2(MECP2):c.1083_1231delinsGTGTCTGCATACCTGA (p.Ser361_Pro411delinsArgCysLeuHisThrTer)
NM_001110792.2(MECP2):c.1087_1101del (p.Pro363_Ser367del) rs267608384
NM_001110792.2(MECP2):c.1087_1209delinsACCACCACCA (p.Pro363fs) rs2522051892
NM_001110792.2(MECP2):c.1088C>T (p.Pro363Leu) rs1557135991
NM_001110792.2(MECP2):c.1091A>G (p.Lys364Arg) rs2148661393
NM_001110792.2(MECP2):c.1093G>A (p.Gly365Arg) rs2522060500
NM_001110792.2(MECP2):c.1095G>A (p.Gly365=) rs2065930750
NM_001110792.2(MECP2):c.1095G>T (p.Gly365=) rs2065930750
NM_001110792.2(MECP2):c.1099AGC[2] (p.Ser369del) rs267608564
NM_001110792.2(MECP2):c.10G>A (p.Ala4Thr) rs781875210
NM_001110792.2(MECP2):c.1100G>A (p.Ser367Asn) rs2522060303
NM_001110792.2(MECP2):c.1102A>G (p.Ser368Gly) rs2148661316
NM_001110792.2(MECP2):c.1108G>T (p.Ala370Ser) rs147017239
NM_001110792.2(MECP2):c.1110C>T (p.Ala370=) rs782277298
NM_001110792.2(MECP2):c.1111T>G (p.Ser371Ala) rs61752371
NM_001110792.2(MECP2):c.1113C>T (p.Ser371=) rs2522059780
NM_001110792.2(MECP2):c.1116_1117delinsTA (p.Pro373Thr) rs2148661261
NM_001110792.2(MECP2):c.1117C>A (p.Pro373Thr) rs61752373
NM_001110792.2(MECP2):c.1117C>T (p.Pro373Ser) rs61752373
NM_001110792.2(MECP2):c.1118C>T (p.Pro373Leu) rs782736700
NM_001110792.2(MECP2):c.1119C>A (p.Pro373=) rs782803951
NM_001110792.2(MECP2):c.1119C>T (p.Pro373=) rs782803951
NM_001110792.2(MECP2):c.1120C>T (p.Pro374Ser) rs782171742
NM_001110792.2(MECP2):c.1120_1252del (p.Pro374fs) rs2148659417
NM_001110792.2(MECP2):c.1121C>T (p.Pro374Leu) rs587783105
NM_001110792.2(MECP2):c.1122C>A (p.Pro374=) rs1557135934
NM_001110792.2(MECP2):c.1122C>T (p.Pro374=) rs1557135934
NM_001110792.2(MECP2):c.1122_1265delinsAAGTCCTGGGGCT (p.Lys375fs)
NM_001110792.2(MECP2):c.1122del (p.Lys375fs) rs587783092
NM_001110792.2(MECP2):c.1122dup (p.Lys375fs) rs587783092
NM_001110792.2(MECP2):c.1123_1251del (p.Lys375_Pro417del)
NM_001110792.2(MECP2):c.1125G>A (p.Lys375=) rs1557135922
NM_001110792.2(MECP2):c.1126A>T (p.Lys376Ter) rs2522059013
NM_001110792.2(MECP2):c.1128G>A (p.Lys376=) rs2522058937
NM_001110792.2(MECP2):c.112C>G (p.Leu38Val) rs1603310890
NM_001110792.2(MECP2):c.112C>T (p.Leu38Phe) rs1603310890
NM_001110792.2(MECP2):c.1132C>G (p.His378Asp) rs2065928374
NM_001110792.2(MECP2):c.1133_1231del (p.His378_Asp410del) rs2522048470
NM_001110792.2(MECP2):c.1134C>T (p.His378=) rs1557135898
NM_001110792.2(MECP2):c.1134CCA[1] (p.His383_His384del) rs61752381
NM_001110792.2(MECP2):c.1134CCA[2] (p.His384del) rs61752381
NM_001110792.2(MECP2):c.1134CCA[4] (p.His384dup) rs61752381
NM_001110792.2(MECP2):c.1136_*557del (p.His379fs) rs2522024746
NM_001110792.2(MECP2):c.1136_1215del (p.His379fs) rs2522051180
NM_001110792.2(MECP2):c.1138C>G (p.His380Asp) rs781968415
NM_001110792.2(MECP2):c.1140C>T (p.His380=) rs61752382
NM_001110792.2(MECP2):c.1141_1152del (p.His381_His384del) rs267608371
NM_001110792.2(MECP2):c.1143T>C (p.His381=) rs1557135877
NM_001110792.2(MECP2):c.1143_1145del (p.His384del) rs2148661055
NM_001110792.2(MECP2):c.1145A>G (p.His382Arg) rs1557135874
NM_001110792.2(MECP2):c.1151_1154delinsCCCA (p.His384_Ser385delinsProGln) rs2148660984
NM_001110792.2(MECP2):c.1151_1357del (p.His384_Ala453delinsPro) rs1557135080
NM_001110792.2(MECP2):c.1152C>G (p.His384Gln) rs1557135857
NM_001110792.2(MECP2):c.1152C>T (p.His384=) rs1557135857
NM_001110792.2(MECP2):c.1152_1237del (p.His384fs) rs1557135314
NM_001110792.2(MECP2):c.1156G>C (p.Glu386Gln) rs2148660959
NM_001110792.2(MECP2):c.1157_1227del (p.Glu386fs) rs1557135447
NM_001110792.2(MECP2):c.1160C>T (p.Ser387Phe) rs782460882
NM_001110792.2(MECP2):c.1163C>G (p.Pro388Arg) rs61752976
NM_001110792.2(MECP2):c.1163_1187del (p.Pro388fs) rs2522055117
NM_001110792.2(MECP2):c.1163_1233del (p.Pro388fs) rs2522048081
NM_001110792.2(MECP2):c.1165_1179del (p.Lys389_Pro393del) rs2065924353
NM_001110792.2(MECP2):c.1167G>C (p.Lys389Asn) rs1557135820
NM_001110792.2(MECP2):c.1168G>T (p.Ala390Ser) rs587783106
NM_001110792.2(MECP2):c.1168_1238del (p.Ala390fs) rs1557135295
NM_001110792.2(MECP2):c.1169C>G (p.Ala390Gly) rs201314910
NM_001110792.2(MECP2):c.1169C>T (p.Ala390Val) rs201314910
NM_001110792.2(MECP2):c.1170C>A (p.Ala390=) rs782751264
NM_001110792.2(MECP2):c.1170_1183del (p.Val392fs) rs2148660771
NM_001110792.2(MECP2):c.1171_1178del (p.Pro391fs) rs267608571
NM_001110792.2(MECP2):c.1172_1215del (p.Pro391fs) rs2148660220
NM_001110792.2(MECP2):c.1173C>A (p.Pro391=) rs61752980
NM_001110792.2(MECP2):c.1173del (p.Val392fs) rs1557135793
NM_001110792.2(MECP2):c.1173dup (p.Val392fs) rs1557135793
NM_001110792.2(MECP2):c.1174_1199del (p.Val392fs) rs267608382
NM_001110792.2(MECP2):c.1179A>G (p.Pro393=)
NM_001110792.2(MECP2):c.1179_1183del (p.Leu394fs) rs2522055324
NM_001110792.2(MECP2):c.1179_1186del (p.Leu394fs) rs2148660746
NM_001110792.2(MECP2):c.1179_1190del (p.Leu395_Leu398del) rs2148660709
NM_001110792.2(MECP2):c.1179_1196del (p.Leu394_Pro399del) rs1291465065
NM_001110792.2(MECP2):c.1180dup (p.Leu394fs) rs2148660777
NM_001110792.2(MECP2):c.1181_1201del (p.Leu394_Pro400del) rs1242646907
NM_001110792.2(MECP2):c.1182_1229del (p.Leu395_Asp410del) rs2148659904
NM_001110792.2(MECP2):c.1184_1195del (p.Leu395_Leu398del) rs782767712
NM_001110792.2(MECP2):c.1184_1228delinsC (p.Leu395fs) rs2522048965
NM_001110792.2(MECP2):c.1185C>G (p.Leu395=) rs782385010
NM_001110792.2(MECP2):c.1186C>T (p.Pro396Ser) rs373116070
NM_001110792.2(MECP2):c.1187_1224del (p.Pro396fs) rs267608574
NM_001110792.2(MECP2):c.1188A>G (p.Pro396=) rs1481619730
NM_001110792.2(MECP2):c.1188_1207del (p.Pro396_Pro397insTer) rs1557135631
NM_001110792.2(MECP2):c.1188_1208del (p.Pro397_Pro403del)
NM_001110792.2(MECP2):c.1188_1226delinsGGAGCTCTCGGGTGGTGGT (p.Pro397fs) rs267608577
NM_001110792.2(MECP2):c.1188_1231del (p.Pro397fs) rs267608372
NM_001110792.2(MECP2):c.1189C>A (p.Pro397Thr) rs782279709
NM_001110792.2(MECP2):c.1189C>T (p.Pro397Ser) rs782279709
NM_001110792.2(MECP2):c.1190C>G (p.Pro397Arg) rs111302745
NM_001110792.2(MECP2):c.1190C>T (p.Pro397Leu) rs111302745
NM_001110792.2(MECP2):c.1190_1226delinsAACAGAATTCACCACCGTAACCATTTGGAGCACAGCAGGCTCGAATCCAGCTCCATCCTGGGACCTAATGGCCGTCTATGCAGCAGACTCGGATCCACCTGCGTCCTGGGATG (p.Pro397_Glu409delinsGlnGlnAsnSerProProTer) rs1569548307
NM_001110792.2(MECP2):c.1190_1269del (p.Pro397fs) rs2522044176
NM_001110792.2(MECP2):c.1191C>A (p.Pro397=) rs370226935
NM_001110792.2(MECP2):c.1191_1202del (p.Leu398_Pro401del) rs782174572
NM_001110792.2(MECP2):c.1191_1205del (p.Leu398_Pro402del) rs2148660412
NM_001110792.2(MECP2):c.1191_1208del (p.Leu398_Pro403del) rs267608392
NM_001110792.2(MECP2):c.1191_1236del (p.Leu398fs) rs267608329
NM_001110792.2(MECP2):c.1192C>T (p.Leu398=) rs1042873
NM_001110792.2(MECP2):c.1192_1202del (p.Leu398fs) rs2522053303
NM_001110792.2(MECP2):c.1192dup (p.Leu398fs) rs2522054508
NM_001110792.2(MECP2):c.1193T>C (p.Leu398Pro) rs1388678969
NM_001110792.2(MECP2):c.1193_1198del (p.Leu398_Pro399del) rs1569548334
NM_001110792.2(MECP2):c.1193_1204del (p.Leu398_Pro401del) rs2148660433
NM_001110792.2(MECP2):c.1193_1224del (p.Leu398fs) rs267608585
NM_001110792.2(MECP2):c.1193_1233del (p.Leu398fs) rs267608327
NM_001110792.2(MECP2):c.1193_1236del (p.Leu398fs) rs63749748
NM_001110792.2(MECP2):c.1194G>A (p.Leu398=) rs782270536
NM_001110792.2(MECP2):c.1194_*3444del (p.Pro399fs)
NM_001110792.2(MECP2):c.1195C>T (p.Pro399Ser) rs1171658384
NM_001110792.2(MECP2):c.1195_1210del (p.Pro399fs) rs267608373
NM_001110792.2(MECP2):c.1195_1246del (p.Pro399fs) rs1557135251
NM_001110792.2(MECP2):c.1195_1279del (p.Pro399fs) rs2065908727
NM_001110792.2(MECP2):c.1196_1275del (p.Pro399fs) rs2522043714
NM_001110792.2(MECP2):c.1197C>G (p.Pro399=) rs61750246
NM_001110792.2(MECP2):c.1197_1199del (p.Pro403del) rs267608339
NM_001110792.2(MECP2):c.1197_1202del (p.Pro402_Pro403del) rs267608332
NM_001110792.2(MECP2):c.1197_1205del (p.Pro401_Pro403del) rs267608401
NM_001110792.2(MECP2):c.1197_1208del (p.Pro400_Pro403del) rs782629585
NM_001110792.2(MECP2):c.1198C>G (p.Pro400Ala) rs61753000
NM_001110792.2(MECP2):c.1198CCACCT[1] (p.Pro402_Pro403del) rs61753008
NM_001110792.2(MECP2):c.1198_1199delinsTA (p.Pro400Ter) rs267608597
NM_001110792.2(MECP2):c.1198_1208del (p.Pro399_Pro400insTer) rs2065919863
NM_001110792.2(MECP2):c.1198_1215del (p.Pro400_Pro405del) rs267608406
NM_001110792.2(MECP2):c.1198_1224del (p.Pro400_Ser408del) rs782783878
NM_001110792.2(MECP2):c.1199_1204delinsTCAGGTATAT (p.Pro400fs) rs2522052892
NM_001110792.2(MECP2):c.1199_1233del (p.Pro400fs) rs267608589
NM_001110792.2(MECP2):c.1199del (p.Pro400fs) rs267608339
NM_001110792.2(MECP2):c.11C>T (p.Ala4Val) rs1182354883
NM_001110792.2(MECP2):c.1200_1208del (p.Pro401_Pro403del) rs267608604
NM_001110792.2(MECP2):c.1200_1220del (p.Pro401_Ser407del) rs1557135539
NM_001110792.2(MECP2):c.1200_1223del (p.Pro401_Ser408del) rs2148660070
NM_001110792.2(MECP2):c.1200_1224del (p.Pro401fs) rs2148660011
NM_001110792.2(MECP2):c.1200_1243del (p.Pro400_Pro401insTer) rs61752992
NM_001110792.2(MECP2):c.1200_1249delinsCTGAGCACCCCCCAAGAAGGAGCACCACCACCATCACCACCACTCAGAGT (p.Pro401_Pro417delinsTer) rs2522045317
NM_001110792.2(MECP2):c.1201_1226del (p.Pro401fs) rs267608607
NM_001110792.2(MECP2):c.1201_1237del (p.Pro401fs) rs2148659670
NM_001110792.2(MECP2):c.1203T>A (p.Pro401=) rs1469109249
NM_001110792.2(MECP2):c.1203T>C (p.Pro401=) rs1469109249
NM_001110792.2(MECP2):c.1203_1236del (p.Pro402fs) rs267608343
NM_001110792.2(MECP2):c.1204C>T (p.Pro402Ser) rs797045690
NM_001110792.2(MECP2):c.1207C>A (p.Pro403Thr) rs781794820
NM_001110792.2(MECP2):c.1207C>G (p.Pro403Ala) rs781794820
NM_001110792.2(MECP2):c.1211_1234del (p.Glu404_Thr412delinsAla)
NM_001110792.2(MECP2):c.1213C>T (p.Pro405Ser)
NM_001110792.2(MECP2):c.1213_1226del (p.Pro405fs) rs2522049286
NM_001110792.2(MECP2):c.1214C>T (p.Pro405Leu) rs267608402
NM_001110792.2(MECP2):c.1215C>G (p.Pro405=) rs781898011
NM_001110792.2(MECP2):c.1215C>T (p.Pro405=) rs781898011
NM_001110792.2(MECP2):c.1216_1233del (p.Glu406_Pro411del) rs1557135368
NM_001110792.2(MECP2):c.1216_1251del (p.Glu406_Pro417del) rs782746707
NM_001110792.2(MECP2):c.1218G>A (p.Glu406=) rs1603307819
NM_001110792.2(MECP2):c.1219A>G (p.Ser407Gly) rs1603307813
NM_001110792.2(MECP2):c.1222_1313del (p.Ser408fs) rs2522041945
NM_001110792.2(MECP2):c.1223_1365del (p.Ser408fs) rs2522039523
NM_001110792.2(MECP2):c.1228G>T (p.Asp410Tyr) rs1557135428
NM_001110792.2(MECP2):c.1236C>G (p.Thr412=) rs2148659708
NM_001110792.2(MECP2):c.1239C>G (p.Ser413Arg) rs782230851
NM_001110792.2(MECP2):c.1240C>T (p.Pro414Ser) rs150146088
NM_001110792.2(MECP2):c.1241C>A (p.Pro414His) rs61753014
NM_001110792.2(MECP2):c.1241C>T (p.Pro414Leu) rs61753014
NM_001110792.2(MECP2):c.1242_1244del (p.Pro415del) rs781843758
NM_001110792.2(MECP2):c.1243C>A (p.Pro415Thr) rs782495086
NM_001110792.2(MECP2):c.1243C>T (p.Pro415Ser) rs782495086
NM_001110792.2(MECP2):c.1243_*586del (p.Pro415fs) rs2522024333
NM_001110792.2(MECP2):c.1244C>A (p.Pro415His) rs587783107
NM_001110792.2(MECP2):c.1244dup (p.Pro415_Glu416insTer) rs781843758
NM_001110792.2(MECP2):c.1248_1249delinsAT (p.Pro417Ser) rs2522045278
NM_001110792.2(MECP2):c.1252C>T (p.Gln418Ter) rs61753965
NM_001110792.2(MECP2):c.1254G>A (p.Gln418=) rs1557135228
NM_001110792.2(MECP2):c.1255G>A (p.Asp419Asn) rs2065910235
NM_001110792.2(MECP2):c.1261AGC[2] (p.Ser423del) rs2065909462
NM_001110792.2(MECP2):c.1266C>T (p.Ser422=) rs2065909625
NM_001110792.2(MECP2):c.1267_*76del (p.Val424fs) rs2522032710
NM_001110792.2(MECP2):c.1268G>C (p.Ser423Thr) rs2065909517
NM_001110792.2(MECP2):c.1268dup (p.Ser423fs) rs2148659330
NM_001110792.2(MECP2):c.1269_1270delinsTT (p.Val424Phe) rs2065909328
NM_001110792.2(MECP2):c.1271T>G (p.Val424Gly) rs782598922
NM_001110792.2(MECP2):c.1275_*863del (p.Cys425_Ter499delinsXaa)
NM_001110792.2(MECP2):c.1277A>G (p.Lys426Arg) rs2148659263
NM_001110792.2(MECP2):c.1277_1278del (p.Lys426fs) rs2148659257
NM_001110792.2(MECP2):c.1278A>G (p.Lys426=)
NM_001110792.2(MECP2):c.1279GAG[1] (p.Glu428del) rs781918838
NM_001110792.2(MECP2):c.1287G>A (p.Lys429=) rs2148659210
NM_001110792.2(MECP2):c.1288A>G (p.Met430Val)
NM_001110792.2(MECP2):c.1289T>C (p.Met430Thr) rs1210814372
NM_001110792.2(MECP2):c.129G>A (p.Val43=) rs1194365979
NM_001110792.2(MECP2):c.1302C>G (p.Gly434=) rs61753970
NM_001110792.2(MECP2):c.1303_1334del (p.Ser435_Leu436insTer)
NM_001110792.2(MECP2):c.1308G>A (p.Leu436=)
NM_001110792.2(MECP2):c.1309G>C (p.Glu437Gln)
NM_001110792.2(MECP2):c.1311G>A (p.Glu437=) rs2148659080
NM_001110792.2(MECP2):c.1316_1318del (p.Asp439del) rs2065906988
NM_001110792.2(MECP2):c.1326C>T (p.Pro442=) rs1603307482
NM_001110792.2(MECP2):c.1327A>G (p.Lys443Glu)
NM_001110792.2(MECP2):c.1328dup (p.Glu444fs) rs2148658967
NM_001110792.2(MECP2):c.1331A>G (p.Glu444Gly) rs2522040950
NM_001110792.2(MECP2):c.1334C>A (p.Pro445Gln)
NM_001110792.2(MECP2):c.1341G>A (p.Lys447=) rs2148658929
NM_001110792.2(MECP2):c.1344_1345del (p.Gln449fs) rs61753972
NM_001110792.2(MECP2):c.1350C>G (p.Pro450=)
NM_001110792.2(MECP2):c.1351G>A (p.Ala451Thr) rs61753973
NM_001110792.2(MECP2):c.1351G>T (p.Ala451Ser) rs61753973
NM_001110792.2(MECP2):c.1352_1353del (p.Ala451fs) rs1557135091
NM_001110792.2(MECP2):c.1357G>A (p.Ala453Thr)
NM_001110792.2(MECP2):c.1361C>A (p.Thr454Asn) rs2522039821
NM_001110792.2(MECP2):c.1362C>G (p.Thr454=) rs61751363
NM_001110792.2(MECP2):c.1362_1370del (p.454TAA[1]) rs267608404
NM_001110792.2(MECP2):c.1363GCC[1] (p.Ala456del) rs2065904794
NM_001110792.2(MECP2):c.1367C>T (p.Ala456Val) rs1034253564
NM_001110792.2(MECP2):c.136G>T (p.Asp46Tyr) rs2522112911
NM_001110792.2(MECP2):c.136_139del (p.Asp46fs) rs61754428
NM_001110792.2(MECP2):c.1371G>C (p.Thr457=) rs3027927
NM_001110792.2(MECP2):c.1377A>C (p.Ala459=) rs2522038820
NM_001110792.2(MECP2):c.1383G>C (p.Lys461Asn)
NM_001110792.2(MECP2):c.1384T>C (p.Tyr462His) rs2065903736
NM_001110792.2(MECP2):c.1384dup (p.Tyr462fs) rs1557135004
NM_001110792.2(MECP2):c.1392C>A (p.His464Gln) rs2522038191
NM_001110792.2(MECP2):c.1393C>A (p.Arg465=) rs61753979
NM_001110792.2(MECP2):c.139A>G (p.Lys47Glu) rs2522112759
NM_001110792.2(MECP2):c.1401G>A (p.Glu467=) rs781907461
NM_001110792.2(MECP2):c.1403G>A (p.Gly468Glu)
NM_001110792.2(MECP2):c.1403G>C (p.Gly468Ala)
NM_001110792.2(MECP2):c.140_144del (p.Lys47fs) rs2148667088
NM_001110792.2(MECP2):c.1412A>C (p.Lys471Thr) rs1557134964
NM_001110792.2(MECP2):c.1414G>T (p.Asp472Tyr) rs782747061
NM_001110792.2(MECP2):c.1419T>C (p.Ile473=) rs2065902668
NM_001110792.2(MECP2):c.1427C>G (p.Ser476Cys)
NM_001110792.2(MECP2):c.1427C>T (p.Ser476Phe) rs2065902468
NM_001110792.2(MECP2):c.1439G>C (p.Arg480Thr) rs2065902151
NM_001110792.2(MECP2):c.143_149del (p.Lys48fs) rs267608424
NM_001110792.2(MECP2):c.1440dup (p.Pro481fs) rs2065902096
NM_001110792.2(MECP2):c.1442C>T (p.Pro481Leu) rs2522036475
NM_001110792.2(MECP2):c.144_147del (p.Glu49fs) rs267608426
NM_001110792.2(MECP2):c.1452G>C (p.Glu484Asp) rs2148658484
NM_001110792.2(MECP2):c.1455G>C (p.Glu485Asp) rs75498268
NM_001110792.2(MECP2):c.1459G>C (p.Val487Leu) rs2522035846
NM_001110792.2(MECP2):c.1463A>G (p.Asp488Gly)
NM_001110792.2(MECP2):c.1467C>T (p.Ser489=) rs2522035723
NM_001110792.2(MECP2):c.1468C>A (p.Arg490=) rs1214690328
NM_001110792.2(MECP2):c.1475C>T (p.Pro492Leu) rs782276348
NM_001110792.2(MECP2):c.1479G>A (p.Val493=) rs1469603759
NM_001110792.2(MECP2):c.1485G>A (p.Glu495=) rs267608336
NM_001110792.2(MECP2):c.1490_*881delinsGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAG (p.Val497fs) rs2522020409
NM_001110792.2(MECP2):c.1490_1493del (p.Val497fs) rs267608640
NM_001110792.2(MECP2):c.1496G>C (p.Ter499Ser) rs267608399
NM_001110792.2(MECP2):c.1497A>G (p.Ter499Trp) rs267608642
NM_001110792.2(MECP2):c.152A>G (p.Lys51Arg)
NM_001110792.2(MECP2):c.15C>T (p.Ala5=) rs782759888
NM_001110792.2(MECP2):c.177G>A (p.Gln59=) rs1557137944
NM_001110792.2(MECP2):c.189C>G (p.His63Gln) rs267608432
NM_001110792.2(MECP2):c.191A>G (p.His64Arg) rs61754433
NM_001110792.2(MECP2):c.192C>G (p.His64Gln) rs781819534
NM_001110792.2(MECP2):c.205G>A (p.Ala69Thr)
NM_001110792.2(MECP2):c.20_27dup (p.Ser10fs) rs2522550002
NM_001110792.2(MECP2):c.214G>A (p.Gly72Ser) rs2522111128
NM_001110792.2(MECP2):c.215G>A (p.Gly72Asp) rs2148666907
NM_001110792.2(MECP2):c.225_226del (p.Glu75fs) rs61754436
NM_001110792.2(MECP2):c.230C>A (p.Ser77Ter) rs61754437
NM_001110792.2(MECP2):c.231del (p.Glu78fs) rs2148666876
NM_001110792.2(MECP2):c.237del (p.Ser80fs) rs61754438
NM_001110792.2(MECP2):c.23del (p.Ala8fs) rs1603341359
NM_001110792.2(MECP2):c.244T>C (p.Ser82Pro) rs1557137884
NM_001110792.2(MECP2):c.245C>G (p.Ser82Cys) rs2065987230
NM_001110792.2(MECP2):c.248C>A (p.Ala83Asp) rs1557137874
NM_001110792.2(MECP2):c.248C>G (p.Ala83Gly) rs1557137874
NM_001110792.2(MECP2):c.255T>C (p.Ala85=) rs2148666770
NM_001110792.2(MECP2):c.264A>G (p.Glu88=)
NM_001110792.2(MECP2):c.267T>C (p.Ala89=) rs2522109920
NM_001110792.2(MECP2):c.26C>G (p.Pro9Arg) rs2066906140
NM_001110792.2(MECP2):c.280A>T (p.Lys94Ter) rs1603310794
NM_001110792.2(MECP2):c.282A>G (p.Lys94=) rs2148666701
NM_001110792.2(MECP2):c.283C>T (p.Gln95Ter) rs2148666695
NM_001110792.2(MECP2):c.286C>T (p.Arg96Trp) rs1557137821
NM_001110792.2(MECP2):c.294C>T (p.Ser98=) rs2522109272
NM_001110792.2(MECP2):c.29G>C (p.Ser10Thr) rs2148770895
NM_001110792.2(MECP2):c.304G>C (p.Asp102His) rs2522109031
NM_001110792.2(MECP2):c.308G>A (p.Arg103Gln) rs782177397
NM_001110792.2(MECP2):c.308G>C (p.Arg103Pro) rs782177397
NM_001110792.2(MECP2):c.311G>A (p.Gly104Glu) rs2148666605
NM_001110792.2(MECP2):c.313C>T (p.Pro105Ser) rs61754447
NM_001110792.2(MECP2):c.331A>C (p.Thr111Pro) rs2065984609
NM_001110792.2(MECP2):c.336G>A (p.Leu112=) rs2522108216
NM_001110792.2(MECP2):c.336G>T (p.Leu112=)
NM_001110792.2(MECP2):c.338C>G (p.Pro113Arg) rs61754453
NM_001110792.2(MECP2):c.33AGG[4] (p.Gly16del) rs587783744
NM_001110792.2(MECP2):c.33AGG[6] (p.Gly16dup) rs587783744
NM_001110792.2(MECP2):c.33AGG[7] (p.Gly15_Gly16dup) rs587783744
NM_001110792.2(MECP2):c.343G>A (p.Gly115Ser) rs2065984147
NM_001110792.2(MECP2):c.347G>A (p.Trp116Ter) rs61754455
NM_001110792.2(MECP2):c.351A>G (p.Thr117=) rs2522107741
NM_001110792.2(MECP2):c.352C>T (p.Arg118Trp) rs28934907
NM_001110792.2(MECP2):c.353G>A (p.Arg118Gln) rs61754457
NM_001110792.2(MECP2):c.356A>G (p.Lys119Arg) rs2148666479
NM_001110792.2(MECP2):c.358C>T (p.Leu120Phe) rs1557137721
NM_001110792.2(MECP2):c.368G>C (p.Arg123Thr) rs1057518718
NM_001110792.2(MECP2):c.369G>A (p.Arg123=) rs2522107094
NM_001110792.2(MECP2):c.372A>G (p.Lys124=) rs2065982926
NM_001110792.2(MECP2):c.379C>T (p.Arg127Cys) rs267608388
NM_001110792.2(MECP2):c.37G>C (p.Gly13Arg) rs2522549774
NM_001110792.2(MECP2):c.380G>A (p.Arg127His) rs782638331
NM_001110792.2(MECP2):c.396T>C (p.Tyr132=)
NM_001110792.2(MECP2):c.3_14dup (p.Ala8_Pro9insAlaAlaAlaAla)
NM_001110792.2(MECP2):c.3_8dup (p.Ala8_Pro9insAlaAla)
NM_001110792.2(MECP2):c.406T>G (p.Leu136Val) rs2148666355
NM_001110792.2(MECP2):c.408G>T (p.Leu136Phe) rs61755763
NM_001110792.2(MECP2):c.413+12C>T rs2522105655
NM_001110792.2(MECP2):c.413+13A>C rs2148666303
NM_001110792.2(MECP2):c.413+15C>G rs782719824
NM_001110792.2(MECP2):c.413+17C>T rs903221009
NM_001110792.2(MECP2):c.413+20A>G rs1557137612
NM_001110792.2(MECP2):c.413+5G>A rs2148666320
NM_001110792.2(MECP2):c.413+6_413+9del rs267608459
NM_001110792.2(MECP2):c.414-10G>A rs1557137196
NM_001110792.2(MECP2):c.414-11T>A rs2522090721
NM_001110792.2(MECP2):c.414-14G>A rs267608467
NM_001110792.2(MECP2):c.414-17del rs61753982
NM_001110792.2(MECP2):c.414-18_414-15del rs782156136
NM_001110792.2(MECP2):c.414-20C>T rs368684221
NM_001110792.2(MECP2):c.414-3C>G rs267608465
NM_001110792.2(MECP2):c.414-4del rs1557137191
NM_001110792.2(MECP2):c.414-5C>G rs782739600
NM_001110792.2(MECP2):c.414-5C>T rs782739600
NM_001110792.2(MECP2):c.414-6C>A rs782482746
NM_001110792.2(MECP2):c.414-7C>G rs1557137194
NM_001110792.2(MECP2):c.414-8C>A rs781875454
NM_001110792.2(MECP2):c.414-8C>T rs781875454
NM_001110792.2(MECP2):c.414-9T>C rs2522090655
NM_001110792.2(MECP2):c.416C>T (p.Pro139Leu) rs267608387
NM_001110792.2(MECP2):c.418C>A (p.Gln140Lys) rs267608469
NM_001110792.2(MECP2):c.418C>T (p.Gln140Ter) rs267608469
NM_001110792.2(MECP2):c.419A>C (p.Gln140Pro) rs61748383
NM_001110792.2(MECP2):c.41_57dup (p.Arg20fs) rs1557150846
NM_001110792.2(MECP2):c.420G>A (p.Gln140=) rs2148664374
NM_001110792.2(MECP2):c.424A>G (p.Lys142Glu) rs2522089786
NM_001110792.2(MECP2):c.427G>C (p.Ala143Pro) rs2065962282
NM_001110792.2(MECP2):c.429C>A (p.Ala143=) rs61748385
NM_001110792.2(MECP2):c.429C>T (p.Ala143=) rs61748385
NM_001110792.2(MECP2):c.42A>C (p.Gly14=) rs782160213
NM_001110792.2(MECP2):c.433C>T (p.Arg145Cys) rs28934904
NM_001110792.2(MECP2):c.434G>A (p.Arg145His) rs61748389
NM_001110792.2(MECP2):c.435C>T (p.Arg145=) rs782178841
NM_001110792.2(MECP2):c.437C>G (p.Ser146Cys) rs61748390
NM_001110792.2(MECP2):c.438T>C (p.Ser146=) rs2522089189
NM_001110792.2(MECP2):c.439A>G (p.Lys147Glu) rs61748391
NM_001110792.2(MECP2):c.43G>A (p.Gly15Arg) rs2148770843
NM_001110792.2(MECP2):c.441A>C (p.Lys147Asn) rs2522089054
NM_001110792.2(MECP2):c.445G>C (p.Glu149Gln) rs2522088967
NM_001110792.2(MECP2):c.446A>G (p.Glu149Gly) rs61748392
NM_001110792.2(MECP2):c.44_49dup (p.Gly15_Gly16dup) rs1064795312
NM_001110792.2(MECP2):c.44_57del (p.Gly15fs) rs1603341328
NM_001110792.2(MECP2):c.455C>T (p.Ala152Val) rs28934908
NM_001110792.2(MECP2):c.458A>G (p.Tyr153Cys) rs61748395
NM_001110792.2(MECP2):c.459C>G (p.Tyr153Ter) rs61748396
NM_001110792.2(MECP2):c.45A>C (p.Gly15=) rs1369488698
NM_001110792.2(MECP2):c.465A>G (p.Glu155=) rs2065960775
NM_001110792.2(MECP2):c.47_49dup (p.Gly16dup) rs1569549906
NM_001110792.2(MECP2):c.47_57del (p.Gly16fs) rs786205042
NM_001110792.2(MECP2):c.480A>G (p.Thr160=) rs2148664166
NM_001110792.2(MECP2):c.483C>A (p.Ser161=) rs782231195
NM_001110792.2(MECP2):c.483C>T (p.Ser161=) rs782231195
NM_001110792.2(MECP2):c.488A>G (p.Asp163Gly) rs61748403
NM_001110792.2(MECP2):c.490C>A (p.Pro164Thr) rs179363900
NM_001110792.2(MECP2):c.491C>G (p.Pro164Arg) rs61748404
NM_001110792.2(MECP2):c.491_1199delinsTGCGT (p.Pro164fs) rs2522053774
NM_001110792.2(MECP2):c.49GAG[2] (p.Glu19del)
NM_001110792.2(MECP2):c.504C>G (p.Asp168Glu) rs61748408
NM_001110792.2(MECP2):c.506T>G (p.Phe169Cys) rs2522086697
NM_001110792.2(MECP2):c.507C>A (p.Phe169Leu) rs267608484
NM_001110792.2(MECP2):c.507C>G (p.Phe169Leu) rs267608484
NM_001110792.2(MECP2):c.508A>G (p.Thr170Ala) rs61748411
NM_001110792.2(MECP2):c.509C>A (p.Thr170Lys) rs28934906
NM_001110792.2(MECP2):c.509C>G (p.Thr170Arg) rs28934906
NM_001110792.2(MECP2):c.509C>T (p.Thr170Met) rs28934906
NM_001110792.2(MECP2):c.510G>T (p.Thr170=) rs61748413
NM_001110792.2(MECP2):c.518G>T (p.Gly173Val) rs61748417
NM_001110792.2(MECP2):c.525G>A (p.Gly175=) rs2065958108
NM_001110792.2(MECP2):c.525G>C (p.Gly175=) rs2065958108
NM_001110792.2(MECP2):c.529C>T (p.Pro177Ser) rs2148663974
NM_001110792.2(MECP2):c.531C>A (p.Pro177=) rs376821032
NM_001110792.2(MECP2):c.531C>G (p.Pro177=) rs376821032
NM_001110792.2(MECP2):c.534C>T (p.Ser178=) rs1434027042
NM_001110792.2(MECP2):c.535C>T (p.Arg179Trp) rs61748420
NM_001110792.2(MECP2):c.536G>C (p.Arg179Pro) rs2148663951
NM_001110792.2(MECP2):c.538C>T (p.Arg180Ter) rs61748421
NM_001110792.2(MECP2):c.541G>T (p.Glu181Ter) rs1603309480
NM_001110792.2(MECP2):c.544C>T (p.Gln182Ter) rs61748425
NM_001110792.2(MECP2):c.550C>A (p.Pro184Thr) rs61748426
NM_001110792.2(MECP2):c.550C>T (p.Pro184Ser) rs61748426
NM_001110792.2(MECP2):c.561G>A (p.Lys187=) rs2522084447
NM_001110792.2(MECP2):c.562C>G (p.Pro188Ala) rs186663314
NM_001110792.2(MECP2):c.563C>A (p.Pro188His) rs61749701
NM_001110792.2(MECP2):c.563C>T (p.Pro188Leu) rs61749701
NM_001110792.2(MECP2):c.564C>G (p.Pro188=) rs61754420
NM_001110792.2(MECP2):c.564C>T (p.Pro188=) rs61754420
NM_001110792.2(MECP2):c.567A>G (p.Lys189=) rs2065956242
NM_001110792.2(MECP2):c.56A>G (p.Glu19Gly) rs1557150848
NM_001110792.2(MECP2):c.571C>G (p.Pro191Ala) rs1362774583
NM_001110792.2(MECP2):c.573_574insT (p.Lys192Ter) rs2148663769
NM_001110792.2(MECP2):c.582A>G (p.Pro194=) rs1275293022
NM_001110792.2(MECP2):c.589G>T (p.Gly197Cys) rs587783135
NM_001110792.2(MECP2):c.591C>A (p.Gly197=) rs782650538
NM_001110792.2(MECP2):c.5C>T (p.Ala2Val) rs179363901
NM_001110792.2(MECP2):c.600G>A (p.Arg200=) rs2148663671
NM_001110792.2(MECP2):c.609C>T (p.Pro203=) rs61749710
NM_001110792.2(MECP2):c.615G>A (p.Gly205=) rs2522082246
NM_001110792.2(MECP2):c.616_670del (p.Gly207fs) rs2522079778
NM_001110792.2(MECP2):c.62+10A>T rs1557150839
NM_001110792.2(MECP2):c.62+11C>T rs1557150838
NM_001110792.2(MECP2):c.62+16G>A
NM_001110792.2(MECP2):c.62+18G>A rs2522549061
NM_001110792.2(MECP2):c.62+1G>A rs786205048
NM_001110792.2(MECP2):c.62+3G>C rs2148770726
NM_001110792.2(MECP2):c.62+5429C>G rs1557149879
NM_001110792.2(MECP2):c.62+5429C>T rs1557149879
NM_001110792.2(MECP2):c.62+5430C>G rs2522522180
NM_001110792.2(MECP2):c.62+5434dup rs2522522123
NM_001110792.2(MECP2):c.62+5435_62+5436insA rs2522522095
NM_001110792.2(MECP2):c.62+5440T>G rs2522522022
NM_001110792.2(MECP2):c.62+8G>A rs2522549233
NM_001110792.2(MECP2):c.621C>A (p.Gly207=) rs61749712
NM_001110792.2(MECP2):c.626C>G (p.Thr209Arg)
NM_001110792.2(MECP2):c.627G>C (p.Thr209=) rs61749716
NM_001110792.2(MECP2):c.628_645dup (p.Arg210_Thr215dup) rs782003860
NM_001110792.2(MECP2):c.63-14G>A
NM_001110792.2(MECP2):c.63-16T>C rs2522115119
NM_001110792.2(MECP2):c.63-17C>A rs781850696
NM_001110792.2(MECP2):c.63-17C>T rs781850696
NM_001110792.2(MECP2):c.63-1928_1277del
NM_001110792.2(MECP2):c.63-20A>G rs1175018622
NM_001110792.2(MECP2):c.63-20A>T
NM_001110792.2(MECP2):c.63-2A>G rs267608412
NM_001110792.2(MECP2):c.63-3C>A
NM_001110792.2(MECP2):c.63-4487_1204del
NM_001110792.2(MECP2):c.63-5778_1174del
NM_001110792.2(MECP2):c.63-7080_1196del
NM_001110792.2(MECP2):c.631C>A (p.Pro211Thr) rs373329231
NM_001110792.2(MECP2):c.632C>A (p.Pro211His) rs267608502
NM_001110792.2(MECP2):c.632C>T (p.Pro211Leu) rs267608502
NM_001110792.2(MECP2):c.633C>T (p.Pro211=) rs782619288
NM_001110792.2(MECP2):c.634A>G (p.Lys212Glu) rs61749718
NM_001110792.2(MECP2):c.641C>T (p.Ala214Val) rs587783138
NM_001110792.2(MECP2):c.642C>A (p.Ala214=) rs782254448
NM_001110792.2(MECP2):c.648A>C (p.Ser216=) rs2065952250
NM_001110792.2(MECP2):c.648A>G (p.Ser216=) rs2065952250
NM_001110792.2(MECP2):c.654T>C (p.Gly218=) rs2522080407
NM_001110792.2(MECP2):c.659A>C (p.Gln220Pro) rs1603309169
NM_001110792.2(MECP2):c.659A>G (p.Gln220Arg) rs1603309169
NM_001110792.2(MECP2):c.669G>A (p.Arg223=)
NM_001110792.2(MECP2):c.669G>T (p.Arg223Ser) rs61749731
NM_001110792.2(MECP2):c.670G>T (p.Val224Phe) rs1569548445
NM_001110792.2(MECP2):c.670del (p.Val224fs) rs2065950974
NM_001110792.2(MECP2):c.671T>A (p.Val224Asp) rs2065950854
NM_001110792.2(MECP2):c.672C>T (p.Val224=) rs1557136728
NM_001110792.2(MECP2):c.673C>T (p.Leu225=) rs782473355
NM_001110792.2(MECP2):c.674dup (p.Glu226fs) rs2148663296
NM_001110792.2(MECP2):c.675G>C (p.Leu225=) rs1557136722
NM_001110792.2(MECP2):c.677_689del (p.Glu226fs) rs267608386
NM_001110792.2(MECP2):c.686C>T (p.Pro229Leu) rs878853312
NM_001110792.2(MECP2):c.696C>G (p.Leu232=) rs267608512
NM_001110792.2(MECP2):c.697C>G (p.Leu233Val) rs782357529
NM_001110792.2(MECP2):c.6CGC[3] (p.Ala6_Ala8del) rs398123566
NM_001110792.2(MECP2):c.6CGC[4] (p.Ala7_Ala8del) rs398123566
NM_001110792.2(MECP2):c.6CGC[5] (p.Ala8del) rs398123566
NM_001110792.2(MECP2):c.6CGC[7] (p.Ala8dup) rs398123566
NM_001110792.2(MECP2):c.6CGC[8] (p.Ala7_Ala8dup) rs398123566
NM_001110792.2(MECP2):c.6CGC[9] (p.Ala6_Ala8dup) rs398123566
NM_001110792.2(MECP2):c.707T>A (p.Met236Lys)
NM_001110792.2(MECP2):c.708G>A (p.Met236Ile)
NM_001110792.2(MECP2):c.710C>G (p.Pro237Arg) rs61749715
NM_001110792.2(MECP2):c.710C>T (p.Pro237Leu) rs61749715
NM_001110792.2(MECP2):c.715C>G (p.Gln239Glu) rs61749737
NM_001110792.2(MECP2):c.717A>C (p.Gln239His) rs373297476
NM_001110792.2(MECP2):c.717A>G (p.Gln239=) rs373297476
NM_001110792.2(MECP2):c.720T>A (p.Thr240=)
NM_001110792.2(MECP2):c.723G>A (p.Ser241=) rs782461567
NM_001110792.2(MECP2):c.724C>A (p.Pro242Thr) rs1209806388
NM_001110792.2(MECP2):c.726del (p.Gly244fs) rs1064793576
NM_001110792.2(MECP2):c.727G>C (p.Gly243Arg) rs587783139
NM_001110792.2(MECP2):c.727G>T (p.Gly243Trp) rs587783139
NM_001110792.2(MECP2):c.729G>A (p.Gly243=) rs1557136641
NM_001110792.2(MECP2):c.731del (p.Gly244fs) rs63260260
NM_001110792.2(MECP2):c.731dup (p.Lys245fs) rs63260260
NM_001110792.2(MECP2):c.732del (p.Lys245fs) rs61749741
NM_001110792.2(MECP2):c.737C>T (p.Ala246Val) rs138211345
NM_001110792.2(MECP2):c.73T>G (p.Ser25Ala) rs2065992065
NM_001110792.2(MECP2):c.741G>A (p.Glu247=) rs2148663015
NM_001110792.2(MECP2):c.744G>A (p.Gly248=) rs781872883
NM_001110792.2(MECP2):c.744G>C (p.Gly248=) rs781872883
NM_001110792.2(MECP2):c.744_751del (p.Gly249fs) rs2065947222
NM_001110792.2(MECP2):c.745_746del (p.Gly249fs) rs61749743
NM_001110792.2(MECP2):c.746G>T (p.Gly249Val) rs62846063
NM_001110792.2(MECP2):c.746del (p.Gly249fs) rs61749743
NM_001110792.2(MECP2):c.746dup (p.Gly250fs) rs61749743
NM_001110792.2(MECP2):c.748G>T (p.Gly250Trp) rs2522076030
NM_001110792.2(MECP2):c.74C>G (p.Ser25Ter) rs2148667313
NM_001110792.2(MECP2):c.753C>A (p.Ala251=) rs1057520963
NM_001110792.2(MECP2):c.759A>C (p.Thr253=) rs1416619132
NM_001110792.2(MECP2):c.75A>T (p.Ser25=) rs782561844
NM_001110792.2(MECP2):c.762del (p.Thr255fs) rs2522075107
NM_001110792.2(MECP2):c.765C>A (p.Thr255=) rs1557136570
NM_001110792.2(MECP2):c.765C>T (p.Thr255=) rs1557136570
NM_001110792.2(MECP2):c.766C>T (p.Gln256Ter) rs61749747
NM_001110792.2(MECP2):c.777G>C (p.Val259=) rs2522074507
NM_001110792.2(MECP2):c.785_786insT (p.Gly264fs) rs1603308957
NM_001110792.2(MECP2):c.785_788dup (p.Gly264fs) rs2522073630
NM_001110792.2(MECP2):c.786C>A (p.Arg262=) rs61748424
NM_001110792.2(MECP2):c.786C>G (p.Arg262=) rs61748424
NM_001110792.2(MECP2):c.786C>T (p.Arg262=) rs61748424
NM_001110792.2(MECP2):c.789C>A (p.Pro263=) rs63582063
NM_001110792.2(MECP2):c.789del (p.Gly264fs) rs61749751
NM_001110792.2(MECP2):c.789dup (p.Gly264fs) rs61749751
NM_001110792.2(MECP2):c.795G>A (p.Arg265=) rs1557136484
NM_001110792.2(MECP2):c.798_837del (p.Lys266fs) rs2148662532
NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter) rs61749721
NM_001110792.2(MECP2):c.800G>C (p.Arg267Pro) rs2065944203
NM_001110792.2(MECP2):c.801A>C (p.Arg267=) rs2065944075
NM_001110792.2(MECP2):c.806C>G (p.Ala269Gly) rs2148662683
NM_001110792.2(MECP2):c.806C>T (p.Ala269Val) rs2148662683
NM_001110792.2(MECP2):c.809A>G (p.Glu270Gly) rs2522072375
NM_001110792.2(MECP2):c.812C>G (p.Ala271Gly) rs782651727
NM_001110792.2(MECP2):c.813C>A (p.Ala271=) rs1042870
NM_001110792.2(MECP2):c.814G>A (p.Asp272Asn) rs1027793252
NM_001110792.2(MECP2):c.817C>A (p.Pro273Thr)
NM_001110792.2(MECP2):c.822G>C (p.Gln274His) rs782224488
NM_001110792.2(MECP2):c.824C>G (p.Ala275Gly) rs782576004
NM_001110792.2(MECP2):c.831C>T (p.Pro277=) rs267608527
NM_001110792.2(MECP2):c.837A>G (p.Lys279=) rs1557136422
NM_001110792.2(MECP2):c.838C>A (p.Arg280=) rs61750239
NM_001110792.2(MECP2):c.839G>A (p.Arg280Gln) rs2065942738
NM_001110792.2(MECP2):c.842del (p.Gly281fs) rs61750241
NM_001110792.2(MECP2):c.842dup (p.Arg282fs) rs61750241
NM_001110792.2(MECP2):c.844C>T (p.Arg282Ter) rs61750240
NM_001110792.2(MECP2):c.844del (p.Arg282fs) rs62931162
NM_001110792.2(MECP2):c.849G>A (p.Lys283=) rs2522070739
NM_001110792.2(MECP2):c.851C>G (p.Pro284Arg) rs61750243
NM_001110792.2(MECP2):c.852G>C (p.Pro284=) rs587783746
NM_001110792.2(MECP2):c.852G>T (p.Pro284=) rs587783746
NM_001110792.2(MECP2):c.855G>C (p.Gly285=) rs61750245
NM_001110792.2(MECP2):c.856A>G (p.Ser286Gly) rs1329405142
NM_001110792.2(MECP2):c.858T>C (p.Ser286=)
NM_001110792.2(MECP2):c.869C>T (p.Ala290Val) rs781971438
NM_001110792.2(MECP2):c.86_94del (p.Asp29_Gln31del) rs2522113912
NM_001110792.2(MECP2):c.871G>T (p.Ala291Ser) rs371234586
NM_001110792.2(MECP2):c.872C>G (p.Ala291Gly) rs61750249
NM_001110792.2(MECP2):c.872C>T (p.Ala291Val) rs61750249
NM_001110792.2(MECP2):c.873T>C (p.Ala291=) rs1603308618
NM_001110792.2(MECP2):c.875CCG[1] (p.Ala293del) rs1569548405
NM_001110792.2(MECP2):c.876del (p.Ala293fs) rs1557136332
NM_001110792.2(MECP2):c.878C>G (p.Ala293Gly) rs2148662326
NM_001110792.2(MECP2):c.879C>G (p.Ala293=)
NM_001110792.2(MECP2):c.87C>T (p.Asp29=) rs1557138037
NM_001110792.2(MECP2):c.88C>T (p.Leu30Phe) rs2065991510
NM_001110792.2(MECP2):c.890A>C (p.Lys297Thr)
NM_001110792.2(MECP2):c.891G>C (p.Lys297Asn) rs2522068531
NM_001110792.2(MECP2):c.892A>C (p.Lys298Gln)
NM_001110792.2(MECP2):c.892_895del (p.Lys298fs) rs61750256
NM_001110792.2(MECP2):c.896C>A (p.Ala299Asp) rs782533778
NM_001110792.2(MECP2):c.896C>T (p.Ala299Val) rs782533778
NM_001110792.2(MECP2):c.897C>G (p.Ala299=) rs139378224
NM_001110792.2(MECP2):c.898_1014del (p.Val300_Ser338del) rs2148661699
NM_001110792.2(MECP2):c.904dup (p.Glu302fs) rs2522068012
NM_001110792.2(MECP2):c.905A>G (p.Glu302Gly) rs2148662194
NM_001110792.2(MECP2):c.907_1080del (p.Ile305_Ser362del) rs1557136013
NM_001110792.2(MECP2):c.907_1268delinsAC (p.Ser303_Ser423delinsThr) rs2065909561
NM_001110792.2(MECP2):c.907_930del (p.Ser303_Glu310del) rs2522066919
NM_001110792.2(MECP2):c.912_916del (p.Arg306fs) rs2522067527
NM_001110792.2(MECP2):c.916C>T (p.Arg306Ter) rs61751362
NM_001110792.2(MECP2):c.91C>G (p.Gln31Glu) rs61754425
NM_001110792.2(MECP2):c.920C>G (p.Ser307Cys) rs1327387670
NM_001110792.2(MECP2):c.924G>A (p.Val308=) rs1603308444
NM_001110792.2(MECP2):c.925C>T (p.Gln309Ter) rs61751367
NM_001110792.2(MECP2):c.92A>C (p.Gln31Pro) rs2148667246
NM_001110792.2(MECP2):c.933_968del (p.Leu313_Val324del) rs2065935510
NM_001110792.2(MECP2):c.934G>C (p.Val312Leu) rs61751370
NM_001110792.2(MECP2):c.934_942del (p.Val312_Pro314del) rs2065937019
NM_001110792.2(MECP2):c.937C>G (p.Leu313Val) rs1557136251
NM_001110792.2(MECP2):c.939C>T (p.Leu313=) rs61751372
NM_001110792.2(MECP2):c.93G>C (p.Gln31His) rs2148667234
NM_001110792.2(MECP2):c.940C>T (p.Pro314Ser) rs61751373
NM_001110792.2(MECP2):c.941C>A (p.Pro314His) rs61749723
NM_001110792.2(MECP2):c.941C>G (p.Pro314Arg) rs61749723
NM_001110792.2(MECP2):c.941C>T (p.Pro314Leu) rs61749723
NM_001110792.2(MECP2):c.942C>G (p.Pro314=) rs61751438
NM_001110792.2(MECP2):c.942C>T (p.Pro314=) rs61751438
NM_001110792.2(MECP2):c.944T>G (p.Ile315Ser) rs267608549
NM_001110792.2(MECP2):c.948G>C (p.Lys316Asn) rs1603308358
NM_001110792.2(MECP2):c.949A>T (p.Lys317Ter)
NM_001110792.2(MECP2):c.94G>A (p.Gly32Ser) rs1557138023
NM_001110792.2(MECP2):c.950A>G (p.Lys317Arg) rs61751441
NM_001110792.2(MECP2):c.952C>T (p.Arg318Cys) rs28935468
NM_001110792.2(MECP2):c.953G>A (p.Arg318His) rs61751443
NM_001110792.2(MECP2):c.953G>C (p.Arg318Pro) rs61751443
NM_001110792.2(MECP2):c.954_962del (p.Lys319_Arg321del) rs2148661892
NM_001110792.2(MECP2):c.957G>C (p.Lys319Asn) rs2522065305
NM_001110792.2(MECP2):c.960C>T (p.Thr320=)
NM_001110792.2(MECP2):c.961C>T (p.Arg321Trp) rs61751444
NM_001110792.2(MECP2):c.962G>A (p.Arg321Gln) rs2065935636
NM_001110792.2(MECP2):c.969G>C (p.Thr323=) rs782335201
NM_001110792.2(MECP2):c.96C>A (p.Gly32=) rs1353764286
NM_001110792.2(MECP2):c.970dup (p.Val324fs) rs2148661854
NM_001110792.2(MECP2):c.972C>T (p.Val324=) rs398124188
NM_001110792.2(MECP2):c.982_1248del (p.Val328_Glu416del) rs1603307604
NM_001110792.2(MECP2):c.984C>T (p.Val328=) rs61751447
NM_001110792.2(MECP2):c.984_1023del (p.Lys329fs) rs2148661645
NM_001110792.2(MECP2):c.991G>A (p.Val331Met) rs1569548388
NM_001110792.2(MECP2):c.99C>T (p.Leu33=) rs2065990919
NM_001122752.2(SERPINI1):c.1006G>A (p.Ala336Thr) rs1268255256
NM_001122752.2(SERPINI1):c.1006G>T (p.Ala336Ser)
NM_001122752.2(SERPINI1):c.1026A>G (p.Leu342=) rs2108575349
NM_001122752.2(SERPINI1):c.1030G>T (p.Val344Phe)
NM_001122752.2(SERPINI1):c.1035T>C (p.Asn345=) rs1044875919
NM_001122752.2(SERPINI1):c.1039G>T (p.Glu347Ter) rs1560020073
NM_001122752.2(SERPINI1):c.1046C>T (p.Ser349Leu) rs764995450
NM_001122752.2(SERPINI1):c.1066+13A>G rs2473327830
NM_001122752.2(SERPINI1):c.1066+19T>C rs2473327864
NM_001122752.2(SERPINI1):c.1067-11C>T rs2473329866
NM_001122752.2(SERPINI1):c.1067-18T>G rs2473329854
NM_001122752.2(SERPINI1):c.1067-20A>G rs2473329847
NM_001122752.2(SERPINI1):c.1067-4G>A rs1414777080
NM_001122752.2(SERPINI1):c.1067-6C>A rs759360650
NM_001122752.2(SERPINI1):c.1067-7A>G
NM_001122752.2(SERPINI1):c.106C>T (p.Arg36Cys) rs61735306
NM_001122752.2(SERPINI1):c.1071G>C (p.Met357Ile) rs1168773849
NM_001122752.2(SERPINI1):c.1097T>C (p.Leu366Pro) rs2473329999
NM_001122752.2(SERPINI1):c.109C>T (p.Leu37Phe) rs1727416167
NM_001122752.2(SERPINI1):c.10C>T (p.Leu4Phe) rs1483914626
NM_001122752.2(SERPINI1):c.1102C>A (p.Pro368Thr)
NM_001122752.2(SERPINI1):c.1135C>T (p.Leu379Phe) rs2473330085
NM_001122752.2(SERPINI1):c.1139T>C (p.Ile380Thr) rs1560020646
NM_001122752.2(SERPINI1):c.1141A>C (p.Arg381=) rs1712452015
NM_001122752.2(SERPINI1):c.1156+13T>G
NM_001122752.2(SERPINI1):c.1157-10A>G rs2473331025
NM_001122752.2(SERPINI1):c.1157-4A>G rs2108576458
NM_001122752.2(SERPINI1):c.1159A>G (p.Thr387Ala)
NM_001122752.2(SERPINI1):c.1162A>C (p.Ile388Leu) rs1712477543
NM_001122752.2(SERPINI1):c.1167A>G (p.Leu389=) rs1712477832
NM_001122752.2(SERPINI1):c.1173G>C (p.Met391Ile) rs1370761997
NM_001122752.2(SERPINI1):c.1175G>A (p.Gly392Glu) rs121909053
NM_001122752.2(SERPINI1):c.1176A>C (p.Gly392=) rs775874977
NM_001122752.2(SERPINI1):c.1176A>T (p.Gly392=) rs775874977
NM_001122752.2(SERPINI1):c.1183A>C (p.Met395Leu) rs144637103
NM_001122752.2(SERPINI1):c.1184T>C (p.Met395Thr) rs761969364
NM_001122752.2(SERPINI1):c.1202A>G (p.Asn401Ser) rs2108576523
NM_001122752.2(SERPINI1):c.1221C>T (p.Phe407=) rs149238028
NM_001122752.2(SERPINI1):c.1225G>C (p.Glu409Gln) rs777674608
NM_001122752.2(SERPINI1):c.122G>A (p.Gly41Asp)
NM_001122752.2(SERPINI1):c.1231dup (p.Ter411LeuextTer?) rs2108576541
NM_001122752.2(SERPINI1):c.128A>T (p.Asp43Val)
NM_001122752.2(SERPINI1):c.137T>C (p.Ile46Thr) rs2108556293
NM_001122752.2(SERPINI1):c.140T>C (p.Leu47Pro) rs2476220929
NM_001122752.2(SERPINI1):c.145T>C (p.Ser49Pro) rs121909051
NM_001122752.2(SERPINI1):c.152T>C (p.Leu51Ser) rs2108556315
NM_001122752.2(SERPINI1):c.158T>C (p.Ile53Thr) rs2476221003
NM_001122752.2(SERPINI1):c.175A>G (p.Met59Val) rs1727418833
NM_001122752.2(SERPINI1):c.189G>A (p.Gly63=) rs2476221132
NM_001122752.2(SERPINI1):c.200C>A (p.Ser67Tyr) rs1577418542
NM_001122752.2(SERPINI1):c.203C>A (p.Thr68Asn) rs1577418551
NM_001122752.2(SERPINI1):c.217C>G (p.Arg73Gly) rs369596299
NM_001122752.2(SERPINI1):c.219C>T (p.Arg73=) rs1346309693
NM_001122752.2(SERPINI1):c.220C>G (p.His74Asp) rs1445299347
NM_001122752.2(SERPINI1):c.223T>G (p.Ser75Ala)
NM_001122752.2(SERPINI1):c.236A>G (p.Asp79Gly) rs1727422704
NM_001122752.2(SERPINI1):c.239G>A (p.Ser80Asn)
NM_001122752.2(SERPINI1):c.240C>G (p.Ser80Arg) rs2108556439
NM_001122752.2(SERPINI1):c.250+9G>A rs1218012905
NM_001122752.2(SERPINI1):c.251-1G>C rs1456626777
NM_001122752.2(SERPINI1):c.251-7C>T rs751958524
NM_001122752.2(SERPINI1):c.268T>C (p.Leu90=) rs1471438969
NM_001122752.2(SERPINI1):c.287T>C (p.Met96Thr) rs376468580
NM_001122752.2(SERPINI1):c.293C>T (p.Thr98Ile) rs1412749235
NM_001122752.2(SERPINI1):c.297T>C (p.Ala99=) rs61761891
NM_001122752.2(SERPINI1):c.311A>T (p.Tyr104Phe) rs1727464670
NM_001122752.2(SERPINI1):c.313G>A (p.Val105Met) rs746853003
NM_001122752.2(SERPINI1):c.316A>G (p.Met106Val) rs1727465258
NM_001122752.2(SERPINI1):c.31G>A (p.Val11Ile) rs2108556179
NM_001122752.2(SERPINI1):c.329A>G (p.Asn110Ser)
NM_001122752.2(SERPINI1):c.32T>C (p.Val11Ala) rs2476220577
NM_001122752.2(SERPINI1):c.336G>C (p.Leu112Phe) rs2108557115
NM_001122752.2(SERPINI1):c.340G>T (p.Val114Leu) rs61735308
NM_001122752.2(SERPINI1):c.350G>A (p.Gly117Glu) rs1727467568
NM_001122752.2(SERPINI1):c.357T>C (p.His119=)
NM_001122752.2(SERPINI1):c.364G>A (p.Glu122Lys) rs1727468427
NM_001122752.2(SERPINI1):c.367G>A (p.Glu123Lys)
NM_001122752.2(SERPINI1):c.372T>C (p.Phe124=) rs2108557153
NM_001122752.2(SERPINI1):c.381G>A (p.Met127Ile) rs1727469563
NM_001122752.2(SERPINI1):c.41G>A (p.Ser14Asn) rs540962876
NM_001122752.2(SERPINI1):c.425_428del (p.Ser142fs) rs2476226623
NM_001122752.2(SERPINI1):c.427C>T (p.Gln143Ter) rs2476226631
NM_001122752.2(SERPINI1):c.441G>T (p.Val147=) rs1577419314
NM_001122752.2(SERPINI1):c.449A>T (p.Tyr150Phe) rs567043099
NM_001122752.2(SERPINI1):c.453C>A (p.Ile151=) rs1727473415
NM_001122752.2(SERPINI1):c.456T>G (p.Asn152Lys) rs759200368
NM_001122752.2(SERPINI1):c.462G>A (p.Trp154Ter) rs1727473660
NM_001122752.2(SERPINI1):c.467A>T (p.Glu156Val) rs2108557247
NM_001122752.2(SERPINI1):c.474C>A (p.Asn158Lys) rs2476226825
NM_001122752.2(SERPINI1):c.47C>T (p.Ala16Val) rs1329426448
NM_001122752.2(SERPINI1):c.481+13G>A rs1727474600
NM_001122752.2(SERPINI1):c.481+17C>T rs2476226885
NM_001122752.2(SERPINI1):c.482-10dup rs772199277
NM_001122752.2(SERPINI1):c.482-6A>G
NM_001122752.2(SERPINI1):c.482A>T (p.Asn161Ile) rs1553774731
NM_001122752.2(SERPINI1):c.487G>A (p.Val163Met) rs2476230870
NM_001122752.2(SERPINI1):c.496T>C (p.Leu166=) rs1727566141
NM_001122752.2(SERPINI1):c.4G>T (p.Ala2Ser) rs1727409437
NM_001122752.2(SERPINI1):c.50_51inv (p.Thr17Met)
NM_001122752.2(SERPINI1):c.521C>T (p.Ala174Val) rs1307589619
NM_001122752.2(SERPINI1):c.530A>C (p.Tyr177Ser) rs765811460
NM_001122752.2(SERPINI1):c.531T>C (p.Tyr177=)
NM_001122752.2(SERPINI1):c.53G>A (p.Gly18Glu)
NM_001122752.2(SERPINI1):c.542T>C (p.Ile181Thr)
NM_001122752.2(SERPINI1):c.543T>G (p.Ile181Met) rs2476231056
NM_001122752.2(SERPINI1):c.547G>A (p.Ala183Thr) rs2476231061
NM_001122752.2(SERPINI1):c.54G>A (p.Gly18=) rs1727412841
NM_001122752.2(SERPINI1):c.552C>A (p.Val184=) rs1577420587
NM_001122752.2(SERPINI1):c.566A>G (p.Asn189Ser) rs566381455
NM_001122752.2(SERPINI1):c.573G>A (p.Lys191=) rs1553774750
NM_001122752.2(SERPINI1):c.576G>C (p.Ser192=) rs2229697
NM_001122752.2(SERPINI1):c.57C>T (p.Ala19=)
NM_001122752.2(SERPINI1):c.585G>A (p.Arg195=) rs976025763
NM_001122752.2(SERPINI1):c.586C>T (p.Pro196Ser) rs1443427135
NM_001122752.2(SERPINI1):c.58A>G (p.Thr20Ala) rs776621818
NM_001122752.2(SERPINI1):c.5C>T (p.Ala2Val) rs2476220478
NM_001122752.2(SERPINI1):c.602C>G (p.Thr201Ser) rs778816229
NM_001122752.2(SERPINI1):c.60T>C (p.Thr20=) rs2476220722
NM_001122752.2(SERPINI1):c.629G>T (p.Ser210Ile) rs1296179457
NM_001122752.2(SERPINI1):c.62_66dup (p.Glu23fs) rs1727413504
NM_001122752.2(SERPINI1):c.646A>G (p.Met216Val) rs1252522258
NM_001122752.2(SERPINI1):c.648G>A (p.Met216Ile) rs2476231423
NM_001122752.2(SERPINI1):c.654T>C (p.Tyr218=) rs2476231436
NM_001122752.2(SERPINI1):c.664G>A (p.Glu222Lys) rs2476231458
NM_001122752.2(SERPINI1):c.674A>G (p.Tyr225Cys) rs1727575153
NM_001122752.2(SERPINI1):c.676+10T>C rs1414787816
NM_001122752.2(SERPINI1):c.676+14dup rs1300289148
NM_001122752.2(SERPINI1):c.676+8A>C rs2476231519
NM_001122752.2(SERPINI1):c.676+8del rs747025290
NM_001122752.2(SERPINI1):c.681A>G (p.Glu227=) rs1560010596
NM_001122752.2(SERPINI1):c.690T>C (p.Asp230=) rs2476235541
NM_001122752.2(SERPINI1):c.694T>G (p.Ser232Ala) rs749782862
NM_001122752.2(SERPINI1):c.700G>C (p.Glu234Gln) rs2476235582
NM_001122752.2(SERPINI1):c.710G>T (p.Gly237Val)
NM_001122752.2(SERPINI1):c.731T>C (p.Ile244Thr) rs2108559866
NM_001122752.2(SERPINI1):c.74C>T (p.Ala25Val) rs376206610
NM_001122752.2(SERPINI1):c.751A>G (p.Ile251Val) rs1553774954
NM_001122752.2(SERPINI1):c.760A>C (p.Met254Leu) rs1553774956
NM_001122752.2(SERPINI1):c.770T>C (p.Leu257Pro) rs1466251791
NM_001122752.2(SERPINI1):c.777A>G (p.Arg259=) rs2476235794
NM_001122752.2(SERPINI1):c.787C>T (p.Pro263Ser) rs2108559919
NM_001122752.2(SERPINI1):c.799C>G (p.Leu267Val) rs2476235887
NM_001122752.2(SERPINI1):c.809_835dup (p.Glu278_Trp279insLeuValLysAlaGlnLeuValGluGlu) rs2476235907
NM_001122752.2(SERPINI1):c.818C>T (p.Ala273Val) rs2108559943
NM_001122752.2(SERPINI1):c.829G>A (p.Glu277Lys) rs2108559953
NM_001122752.2(SERPINI1):c.838G>T (p.Ala280Ser) rs55872908
NM_001122752.2(SERPINI1):c.839C>A (p.Ala280Glu)
NM_001122752.2(SERPINI1):c.843C>G (p.Asn281Lys) rs1553774967
NM_001122752.2(SERPINI1):c.844T>G (p.Ser282Ala) rs746300949
NM_001122752.2(SERPINI1):c.84C>T (p.Asp28=) rs2108556255
NM_001122752.2(SERPINI1):c.853A>C (p.Lys285Gln) rs1400740705
NM_001122752.2(SERPINI1):c.854A>G (p.Lys285Arg) rs772141992
NM_001122752.2(SERPINI1):c.860A>T (p.Lys287Ile) rs775506233
NM_001122752.2(SERPINI1):c.863T>C (p.Val288Ala) rs2476236067
NM_001122752.2(SERPINI1):c.867A>G (p.Glu289=) rs2476236082
NM_001122752.2(SERPINI1):c.874C>A (p.Leu292Met) rs762799907
NM_001122752.2(SERPINI1):c.879C>T (p.Pro293=) rs2476236146
NM_001122752.2(SERPINI1):c.881+15T>G rs1214620302
NM_001122752.2(SERPINI1):c.881+20C>T
NM_001122752.2(SERPINI1):c.882-3C>T rs2473305145
NM_001122752.2(SERPINI1):c.882-4C>G
NM_001122752.2(SERPINI1):c.882-9G>A
NM_001122752.2(SERPINI1):c.88T>G (p.Ser30Ala)
NM_001122752.2(SERPINI1):c.892G>A (p.Glu298Lys) rs2108567236
NM_001122752.2(SERPINI1):c.892G>C (p.Glu298Gln) rs2108567236
NM_001122752.2(SERPINI1):c.898G>A (p.Glu300Lys) rs1711680491
NM_001122752.2(SERPINI1):c.904G>A (p.Asp302Asn) rs2108567247
NM_001122752.2(SERPINI1):c.910A>G (p.Lys304Glu) rs2108567251
NM_001122752.2(SERPINI1):c.914A>C (p.Asp305Ala) rs756818970
NM_001122752.2(SERPINI1):c.929T>G (p.Leu310Arg) rs2473305272
NM_001122752.2(SERPINI1):c.949A>G (p.Ile317Val) rs933220573
NM_001122752.2(SERPINI1):c.963T>A (p.Asn321Lys) rs1711682663
NM_001122752.2(SERPINI1):c.974T>G (p.Leu325Arg) rs2473305402
NM_001122752.2(SERPINI1):c.975C>G (p.Leu325=) rs2108567299
NM_001122752.2(SERPINI1):c.976_977delinsCT (p.Ser326Leu) rs2108567301
NM_001122752.2(SERPINI1):c.979+17A>C rs748427516
NM_001122752.2(SERPINI1):c.979+19T>C rs769886849
NM_001122752.2(SERPINI1):c.980-9T>C rs2473327603
NM_001122752.2(SERPINI1):c.980A>T (p.Asp327Val) rs748148345
NM_001122752.2(SERPINI1):c.982A>G (p.Asn328Asp) rs997668232
NM_004992.3(MECP2):c.27-8916_1212del
NM_004992.4(MECP2):c.12G>A (p.Gly4=) rs2148763145
NM_004992.4(MECP2):c.12G>C (p.Gly4=) rs2148763145
NM_006267.5(RANBP2):c.1063+3A>G rs1467931249
NM_006267.5(RANBP2):c.128A>T (p.Asp43Val) rs751086162
NM_006267.5(RANBP2):c.1294G>C (p.Gly432Arg) rs1675861391
NM_006267.5(RANBP2):c.1360C>T (p.Arg454Ter) rs755089446
NM_006267.5(RANBP2):c.1398T>G (p.His466Gln) rs746894026
NM_006267.5(RANBP2):c.1426C>T (p.Pro476Ser) rs2149220937
NM_006267.5(RANBP2):c.1478A>C (p.Tyr493Ser) rs1553489117
NM_006267.5(RANBP2):c.1492C>G (p.Gln498Glu) rs768171637
NM_006267.5(RANBP2):c.151A>G (p.Thr51Ala) rs1389706312
NM_006267.5(RANBP2):c.1632-10_1632-1delinsAATTTTTAT rs1553489293
NM_006267.5(RANBP2):c.1632-11C>G
NM_006267.5(RANBP2):c.1632-9A>T rs949749735
NM_006267.5(RANBP2):c.1633C>A (p.Pro545Thr)
NM_006267.5(RANBP2):c.1633C>T (p.Pro545Ser) rs773341637
NM_006267.5(RANBP2):c.1636G>A (p.Gly546Arg)
NM_006267.5(RANBP2):c.1642G>A (p.Val548Ile) rs1057954
NM_006267.5(RANBP2):c.1642_1643delinsTC (p.Val548Ser) rs2149222955
NM_006267.5(RANBP2):c.1656A>G (p.Arg552=) rs2467507863
NM_006267.5(RANBP2):c.1661T>C (p.Leu554Pro) rs2467507918
NM_006267.5(RANBP2):c.1685dup (p.Arg563fs) rs1558903136
NM_006267.5(RANBP2):c.1692C>T (p.Ala564=)
NM_006267.5(RANBP2):c.1699A>G (p.Lys567Glu) rs2467508303
NM_006267.5(RANBP2):c.1700A>G (p.Lys567Arg) rs1164642348
NM_006267.5(RANBP2):c.1713A>G (p.Gln571=) rs1300300340
NM_006267.5(RANBP2):c.1714C>T (p.Pro572Ser) rs772325084
NM_006267.5(RANBP2):c.1717G>A (p.Ala573Thr) rs1410658120
NM_006267.5(RANBP2):c.1717G>C (p.Ala573Pro) rs1410658120
NM_006267.5(RANBP2):c.1729C>A (p.His577Asn) rs1197834920
NM_006267.5(RANBP2):c.173G>T (p.Arg58Met) rs771708771
NM_006267.5(RANBP2):c.1746T>C (p.Leu582=) rs1648999565
NM_006267.5(RANBP2):c.1755+10A>G rs2467508848
NM_006267.5(RANBP2):c.1755+12A>T rs566038527
NM_006267.5(RANBP2):c.1755+12dup rs2467508882
NM_006267.5(RANBP2):c.1755+17A>T rs1675921640
NM_006267.5(RANBP2):c.1755+8T>G rs2467508802
NM_006267.5(RANBP2):c.1755G>T (p.Thr585=) rs1558903324
NM_006267.5(RANBP2):c.1756-3T>A rs2149229897
NM_006267.5(RANBP2):c.1756-3del rs2467520579
NM_006267.5(RANBP2):c.1756-7T>G rs1676022790
NM_006267.5(RANBP2):c.1756G>T (p.Gly586Cys) rs367759539
NM_006267.5(RANBP2):c.1757G>A (p.Gly586Asp) rs769749256
NM_006267.5(RANBP2):c.1761C>A (p.Ser587Arg) rs199659469
NM_006267.5(RANBP2):c.1762G>T (p.Gly588Cys)
NM_006267.5(RANBP2):c.1769A>G (p.Asn590Ser) rs1676025870
NM_006267.5(RANBP2):c.1770T>C (p.Asn590=) rs1573774225
NM_006267.5(RANBP2):c.1792T>C (p.Tyr598His) rs1352540315
NM_006267.5(RANBP2):c.1793A>G (p.Tyr598Cys)
NM_006267.5(RANBP2):c.1798G>A (p.Gly600Arg) rs2149230160
NM_006267.5(RANBP2):c.1798G>C (p.Gly600Arg) rs2149230160
NM_006267.5(RANBP2):c.1815T>C (p.Tyr605=)
NM_006267.5(RANBP2):c.1816T>C (p.Trp606Arg) rs1159089490
NM_006267.5(RANBP2):c.1818G>C (p.Trp606Cys) rs2149230211
NM_006267.5(RANBP2):c.1823A>G (p.Lys608Arg)
NM_006267.5(RANBP2):c.182A>G (p.Lys61Arg) rs375559497
NM_006267.5(RANBP2):c.1831C>T (p.Pro611Ser)
NM_006267.5(RANBP2):c.1832C>T (p.Pro611Leu) rs2467521194
NM_006267.5(RANBP2):c.1836G>T (p.Leu612Phe)
NM_006267.5(RANBP2):c.1843A>T (p.Ile615Leu) rs769717484
NM_006267.5(RANBP2):c.1847T>C (p.Ile616Thr) rs2149230281
NM_006267.5(RANBP2):c.1851_1853del (p.Lys619del) rs781235571
NM_006267.5(RANBP2):c.1854GAA[1] (p.Lys619del) rs1359840506
NM_006267.5(RANBP2):c.1856A>G (p.Lys619Arg) rs1676031394
NM_006267.5(RANBP2):c.1857G>C (p.Lys619Asn) rs2149230328
NM_006267.5(RANBP2):c.1859A>G (p.Asn620Ser)
NM_006267.5(RANBP2):c.1864A>G (p.Ile622Val)
NM_006267.5(RANBP2):c.1865T>A (p.Ile622Asn) rs768578328
NM_006267.5(RANBP2):c.1873C>T (p.Pro625Ser) rs2467521429
NM_006267.5(RANBP2):c.1874C>G (p.Pro625Arg) rs2149230410
NM_006267.5(RANBP2):c.1877T>A (p.Ile626Asn) rs1312379333
NM_006267.5(RANBP2):c.1877T>C (p.Ile626Thr) rs1312379333
NM_006267.5(RANBP2):c.1881T>C (p.Asp627=) rs1676034595
NM_006267.5(RANBP2):c.1882C>A (p.Pro628Thr) rs2149230486
NM_006267.5(RANBP2):c.1882C>G (p.Pro628Ala) rs2149230486
NM_006267.5(RANBP2):c.1882C>T (p.Pro628Ser) rs2149230486
NM_006267.5(RANBP2):c.1895A>C (p.His632Pro) rs749941285
NM_006267.5(RANBP2):c.1902T>A (p.His634Gln) rs2149230602
NM_006267.5(RANBP2):c.1908A>G (p.Val636=) rs1466627882
NM_006267.5(RANBP2):c.190A>G (p.Arg64Gly) rs1695110805
NM_006267.5(RANBP2):c.1917+13del rs2149230750
NM_006267.5(RANBP2):c.1917+15T>A rs1319335651
NM_006267.5(RANBP2):c.1917+16T>C
NM_006267.5(RANBP2):c.1917+6A>G rs1676038990
NM_006267.5(RANBP2):c.1918-11TG[2] rs773018169
NM_006267.5(RANBP2):c.1918-12C>G rs2149232168
NM_006267.5(RANBP2):c.1918-13T>C rs2467524977
NM_006267.5(RANBP2):c.1918-17C>T
NM_006267.5(RANBP2):c.1918-1G>A rs1193113074
NM_006267.5(RANBP2):c.1918-3del rs1553489983
NM_006267.5(RANBP2):c.1918-6G>T rs1265664961
NM_006267.5(RANBP2):c.1918-7T>C rs1676059829
NM_006267.5(RANBP2):c.1918G>A (p.Ala640Thr) rs2467525185
NM_006267.5(RANBP2):c.1921T>A (p.Ser641Thr) rs2149232307
NM_006267.5(RANBP2):c.1929T>C (p.Ile643=) rs2149232356
NM_006267.5(RANBP2):c.1937A>G (p.Tyr646Cys) rs1413553144
NM_006267.5(RANBP2):c.1938T>C (p.Tyr646=) rs1676062311
NM_006267.5(RANBP2):c.1953C>G (p.His651Gln) rs756288262
NM_006267.5(RANBP2):c.1961_1962del (p.Phe654fs) rs2149232562
NM_006267.5(RANBP2):c.1963G>A (p.Ala655Thr) rs2149232582
NM_006267.5(RANBP2):c.1966A>G (p.Ile656Val) rs121434504
NM_006267.5(RANBP2):c.1975G>T (p.Ala659Ser) rs1676066238
NM_006267.5(RANBP2):c.1980A>C (p.Val660=) rs1188308664
NM_006267.5(RANBP2):c.1985G>A (p.Gly662Glu) rs1177836262
NM_006267.5(RANBP2):c.1989T>C (p.Asn663=) rs2467525624
NM_006267.5(RANBP2):c.2004G>C (p.Val668=) rs2467525740
NM_006267.5(RANBP2):c.2015A>C (p.Glu672Ala) rs767990485
NM_006267.5(RANBP2):c.2016A>G (p.Glu672=) rs1382397733
NM_006267.5(RANBP2):c.2045A>C (p.Asn682Thr) rs1261658491
NM_006267.5(RANBP2):c.2054T>G (p.Leu685Arg) rs1676073772
NM_006267.5(RANBP2):c.2055+19T>G rs2149233105
NM_006267.5(RANBP2):c.2055+7A>G rs1676074250
NM_006267.5(RANBP2):c.2055+8G>A rs1418907434
NM_006267.5(RANBP2):c.2056-9T>G rs1164901760
NM_006267.5(RANBP2):c.2103T>C (p.Pro701=) rs2149234820
NM_006267.5(RANBP2):c.2129A>C (p.Tyr710Ser) rs1553490292
NM_006267.5(RANBP2):c.2137A>C (p.Lys713Gln) rs1676102291
NM_006267.5(RANBP2):c.2148C>T (p.Asp716=) rs1573777630
NM_006267.5(RANBP2):c.2188T>G (p.Ser730Ala) rs1558906678
NM_006267.5(RANBP2):c.2196C>T (p.Val732=) rs2149235251
NM_006267.5(RANBP2):c.2202+17T>C rs1317354269
NM_006267.5(RANBP2):c.2203-8A>G rs372713342
NM_006267.5(RANBP2):c.225C>T (p.Asn75=) rs144278795
NM_006267.5(RANBP2):c.2302T>C (p.Leu768=) rs2149240072
NM_006267.5(RANBP2):c.2314G>C (p.Asp772His) rs776333740
NM_006267.5(RANBP2):c.2340G>T (p.Pro780=) rs2912839
NM_006267.5(RANBP2):c.2369G>A (p.Ser790Asn) rs1558908320
NM_006267.5(RANBP2):c.2371A>G (p.Lys791Glu) rs1161237836
NM_006267.5(RANBP2):c.2379C>T (p.Tyr793=) rs1558908350
NM_006267.5(RANBP2):c.2383-13T>C rs367912988
NM_006267.5(RANBP2):c.2383-3T>C rs1553490926
NM_006267.5(RANBP2):c.2383-3dup rs542446071
NM_006267.5(RANBP2):c.2392A>G (p.Lys798Glu) rs753165103
NM_006267.5(RANBP2):c.2406A>G (p.Arg802=) rs751871178
NM_006267.5(RANBP2):c.2467-11dup rs747860271
NM_006267.5(RANBP2):c.2467-5A>C rs547917578
NM_006267.5(RANBP2):c.2508A>G (p.Ala836=) rs1384877979
NM_006267.5(RANBP2):c.2637G>A (p.Gln879=) rs1224942587
NM_006267.5(RANBP2):c.2699G>A (p.Gly900Asp) rs1242824247
NM_006267.5(RANBP2):c.2700C>T (p.Gly900=) rs781717148
NM_006267.5(RANBP2):c.2734C>G (p.Gln912Glu) rs2149270626
NM_006267.5(RANBP2):c.2797A>T (p.Met933Leu) rs112109734
NM_006267.5(RANBP2):c.2911A>C (p.Thr971Pro) rs1676884999
NM_006267.5(RANBP2):c.2943C>T (p.Phe981=) rs1186427284
NM_006267.5(RANBP2):c.294G>A (p.Leu98=) rs2149107628
NM_006267.5(RANBP2):c.2T>A (p.Met1Lys) rs1694042679
NM_006267.5(RANBP2):c.3028A>C (p.Met1010Leu) rs758609757
NM_006267.5(RANBP2):c.3161A>G (p.Gln1054Arg) rs1553494404
NM_006267.5(RANBP2):c.3162_3163delinsTT (p.Gln1054_Pro1055delinsHisSer) rs1553494411
NM_006267.5(RANBP2):c.3228_3229delinsAA (p.Gln1077Lys) rs1553494518
NM_006267.5(RANBP2):c.3254A>G (p.Lys1085Arg) rs1447229212
NM_006267.5(RANBP2):c.3263C>T (p.Pro1088Leu) rs1676919475
NM_006267.5(RANBP2):c.3363G>T (p.Lys1121Asn) rs112835359
NM_006267.5(RANBP2):c.3382A>C (p.Ser1128Arg) rs2149272683
NM_006267.5(RANBP2):c.3387T>C (p.Asp1129=) rs142454773
NM_006267.5(RANBP2):c.3387T>G (p.Asp1129Glu) rs142454773
NM_006267.5(RANBP2):c.3404A>G (p.His1135Arg) rs1412938756
NM_006267.5(RANBP2):c.3469G>C (p.Asp1157His) rs1383623493
NM_006267.5(RANBP2):c.3537T>C (p.Pro1179=) rs2149273156
NM_006267.5(RANBP2):c.3592C>T (p.Arg1198Cys) rs771155432
NM_006267.5(RANBP2):c.3630A>G (p.Glu1210=) rs2149273372
NM_006267.5(RANBP2):c.3689T>G (p.Ile1230Ser) rs1676950167
NM_006267.5(RANBP2):c.3908G>C (p.Ser1303Thr) rs561666429
NM_006267.5(RANBP2):c.3953A>G (p.Gln1318Arg) rs2149274196
NM_006267.5(RANBP2):c.3995A>G (p.Lys1332Arg) rs2149274350
NM_006267.5(RANBP2):c.4042G>C (p.Val1348Leu) rs139246606
NM_006267.5(RANBP2):c.4047A>G (p.Ala1349=) rs2149274491
NM_006267.5(RANBP2):c.4053A>G (p.Lys1351=) rs1676978271
NM_006267.5(RANBP2):c.406-2A>G rs1695505484
NM_006267.5(RANBP2):c.4084T>C (p.Ser1362Pro) rs1676980878
NM_006267.5(RANBP2):c.4086A>T (p.Ser1362=) rs1465606255
NM_006267.5(RANBP2):c.4154T>C (p.Leu1385Pro) rs2149274902
NM_006267.5(RANBP2):c.4184T>C (p.Phe1395Ser) rs1406078122
NM_006267.5(RANBP2):c.4206G>C (p.Glu1402Asp) rs778322620
NM_006267.5(RANBP2):c.4207A>G (p.Asn1403Asp) rs773879572
NM_006267.5(RANBP2):c.4372A>G (p.Lys1458Glu) rs2149275579
NM_006267.5(RANBP2):c.4386A>G (p.Gly1462=) rs746426840
NM_006267.5(RANBP2):c.4403T>C (p.Ile1468Thr) rs1677010120
NM_006267.5(RANBP2):c.4435A>G (p.Lys1479Glu) rs377513911
NM_006267.5(RANBP2):c.4482G>A (p.Gly1494=) rs2149275917
NM_006267.5(RANBP2):c.4542T>C (p.Ser1514=) rs2149276093
NM_006267.5(RANBP2):c.4550C>T (p.Thr1517Ile) rs1484293010
NM_006267.5(RANBP2):c.467C>G (p.Ser156Ter) rs1573715350
NM_006267.5(RANBP2):c.468A>G (p.Ser156=) rs1573715364
NM_006267.5(RANBP2):c.4732G>A (p.Val1578Ile) rs775467593
NM_006267.5(RANBP2):c.4752T>C (p.Phe1584=) rs1553495996
NM_006267.5(RANBP2):c.4789A>G (p.Ser1597Gly) rs1677043381
NM_006267.5(RANBP2):c.4879A>G (p.Ile1627Val)
NM_006267.5(RANBP2):c.4927T>G (p.Ser1643Ala) rs2149277367
NM_006267.5(RANBP2):c.4950A>G (p.Thr1650=) rs1553496153
NM_006267.5(RANBP2):c.4974dup (p.Glu1659Ter) rs2149277495
NM_006267.5(RANBP2):c.4994AGG[1] (p.Glu1666del) rs1553496202
NM_006267.5(RANBP2):c.4998G>A (p.Glu1666=) rs1198711049
NM_006267.5(RANBP2):c.5034T>C (p.Asn1678=) rs2149277667
NM_006267.5(RANBP2):c.5074G>A (p.Gly1692Ser) rs1409760237
NM_006267.5(RANBP2):c.5088A>G (p.Gln1696=) rs753999890
NM_006267.5(RANBP2):c.5092A>G (p.Thr1698Ala) rs1677063662
NM_006267.5(RANBP2):c.5245_5246delinsAA (p.Cys1749Asn) rs2149278309
NM_006267.5(RANBP2):c.52T>C (p.Ser18Pro) rs1694049253
NM_006267.5(RANBP2):c.5323T>C (p.Phe1775Leu) rs1573814995
NM_006267.5(RANBP2):c.5367T>G (p.Val1789=) rs200692090
NM_006267.5(RANBP2):c.5404G>C (p.Val1802Leu) rs1677085537
NM_006267.5(RANBP2):c.5441T>A (p.Ile1814Asn) rs1677088173
NM_006267.5(RANBP2):c.5584G>T (p.Gly1862Trp) rs1677100900
NM_006267.5(RANBP2):c.5613A>T (p.Ser1871=) rs1179466757
NM_006267.5(RANBP2):c.5653A>G (p.Thr1885Ala) rs1553496835
NM_006267.5(RANBP2):c.5675C>T (p.Pro1892Leu) rs1677107728
NM_006267.5(RANBP2):c.5725_5727del (p.Glu1909del) rs2149279748
NM_006267.5(RANBP2):c.5786G>T (p.Gly1929Val) rs778007786
NM_006267.5(RANBP2):c.5798G>A (p.Gly1933Asp) rs1677118560
NM_006267.5(RANBP2):c.5800C>T (p.Arg1934Cys) rs199920895
NM_006267.5(RANBP2):c.5892dup (p.Asp1965fs) rs772295809
NM_006267.5(RANBP2):c.5929A>G (p.Lys1977Glu) rs1558924921
NM_006267.5(RANBP2):c.5934A>G (p.Leu1978=) rs2149280531
NM_006267.5(RANBP2):c.6039T>C (p.Phe2013=) rs2149280892
NM_006267.5(RANBP2):c.6060C>T (p.Pro2020=) rs4012040
NM_006267.5(RANBP2):c.6091G>A (p.Asp2031Asn) rs2149281022
NM_006267.5(RANBP2):c.6163A>C (p.Arg2055=) rs1462359212
NM_006267.5(RANBP2):c.627G>A (p.Gln209=) rs1453197920
NM_006267.5(RANBP2):c.6391C>T (p.Leu2131=) rs2149281625
NM_006267.5(RANBP2):c.6439T>G (p.Leu2147Val) rs1279946059
NM_006267.5(RANBP2):c.6499A>G (p.Ile2167Val) rs1677164442
NM_006267.5(RANBP2):c.6576_6577insCCT (p.Thr2192_Glu2193insPro) rs768869504
NM_006267.5(RANBP2):c.6605G>A (p.Gly2202Asp) rs763085166
NM_006267.5(RANBP2):c.6610G>T (p.Ala2204Ser) rs1257076841
NM_006267.5(RANBP2):c.6612C>A (p.Ala2204=) rs202005268
NM_006267.5(RANBP2):c.6612C>T (p.Ala2204=) rs202005268
NM_006267.5(RANBP2):c.6613G>A (p.Gly2205Ser) rs755789696
NM_006267.5(RANBP2):c.6613G>C (p.Gly2205Arg) rs755789696
NM_006267.5(RANBP2):c.6647A>T (p.Glu2216Val) rs1348403145
NM_006267.5(RANBP2):c.673A>G (p.Lys225Glu) rs1695563052
NM_006267.5(RANBP2):c.6782G>A (p.Gly2261Asp) rs1677188214
NM_006267.5(RANBP2):c.678T>G (p.Ser226Arg) rs2149130940
NM_006267.5(RANBP2):c.6856C>G (p.Gln2286Glu) rs1553497729
NM_006267.5(RANBP2):c.6857A>G (p.Gln2286Arg) rs1573820153
NM_006267.5(RANBP2):c.6881A>T (p.Asp2294Val) rs779134801
NM_006267.5(RANBP2):c.6889_6906del (p.Ser2297_Glu2302del) rs2149283036
NM_006267.5(RANBP2):c.6893A>T (p.Asp2298Val) rs373099348
NM_006267.5(RANBP2):c.7012A>G (p.Lys2338Glu) rs2693104
NM_006267.5(RANBP2):c.7125C>A (p.Asp2375Glu) rs1332179032
NM_006267.5(RANBP2):c.7191G>T (p.Gly2397=) rs1677214050
NM_006267.5(RANBP2):c.7283_7284insGGCAGACTCGTTTTCGTTTTAAACTACAGGATGT (p.Phe2432_Lys2433insSerPheTerAlaAspSerPhe) rs2149283861
NM_006267.5(RANBP2):c.7309G>A (p.Asp2437Asn) rs1677220231
NM_006267.5(RANBP2):c.7310A>G (p.Asp2437Gly) rs1414328580
NM_006267.5(RANBP2):c.7364G>T (p.Arg2455Leu) rs561921269
NM_006267.5(RANBP2):c.7372A>C (p.Thr2458Pro) rs1677226173
NM_006267.5(RANBP2):c.7471G>C (p.Ala2491Pro) rs758152724
NM_006267.5(RANBP2):c.7474A>C (p.Thr2492Pro) rs2693103
NM_006267.5(RANBP2):c.7474A>G (p.Thr2492Ala) rs2693103
NM_006267.5(RANBP2):c.7483_7506dup (p.Val2495_Glu2502dup) rs753506997
NM_006267.5(RANBP2):c.7625G>T (p.Gly2542Val) rs1677244353
NM_006267.5(RANBP2):c.7697G>A (p.Ser2566Asn) rs1196915435
NM_006267.5(RANBP2):c.7747T>C (p.Ser2583Pro) rs1677251736
NM_006267.5(RANBP2):c.7748C>T (p.Ser2583Phe) rs771059374
NM_006267.5(RANBP2):c.7760A>G (p.Gln2587Arg) rs1553498323
NM_006267.5(RANBP2):c.7790T>C (p.Phe2597Ser) rs2949962
NM_006267.5(RANBP2):c.7831T>A (p.Phe2611Ile) rs1677259383
NM_006267.5(RANBP2):c.7844A>G (p.Glu2615Gly) rs1573823052
NM_006267.5(RANBP2):c.7849+20_7849+25del rs746373607
NM_006267.5(RANBP2):c.7873G>T (p.Asp2625Tyr) rs1677509212
NM_006267.5(RANBP2):c.7881C>G (p.Pro2627=) rs547411641
NM_006267.5(RANBP2):c.7892A>C (p.Asp2631Ala) rs1677511241
NM_006267.5(RANBP2):c.7892A>T (p.Asp2631Val) rs1677511241
NM_006267.5(RANBP2):c.7911A>T (p.Glu2637Asp) rs368160432
NM_006267.5(RANBP2):c.7918C>A (p.Pro2640Thr) rs762433464
NM_006267.5(RANBP2):c.7995T>C (p.Asp2665=) rs1677522145
NM_006267.5(RANBP2):c.8020+10T>C rs374753445
NM_006267.5(RANBP2):c.8020+10T>G rs374753445
NM_006267.5(RANBP2):c.8020+10_8020+11del rs768933666
NM_006267.5(RANBP2):c.8020+7C>T rs1573831757
NM_006267.5(RANBP2):c.8098G>A (p.Glu2700Lys) rs1479884674
NM_006267.5(RANBP2):c.8106T>C (p.Asn2702=) rs2149300289
NM_006267.5(RANBP2):c.8107A>G (p.Thr2703Ala) rs2149300293
NM_006267.5(RANBP2):c.8114-10G>C rs2149301373
NM_006267.5(RANBP2):c.8122A>C (p.Lys2708Gln) rs1385654757
NM_006267.5(RANBP2):c.8183C>T (p.Thr2728Met) rs778647896
NM_006267.5(RANBP2):c.8269C>T (p.Leu2757Phe) rs1677618457
NM_006267.5(RANBP2):c.8292+8C>A rs753695366
NM_006267.5(RANBP2):c.8293-6_8293-5del rs1305837574
NM_006267.5(RANBP2):c.8305G>A (p.Glu2769Lys) rs1229597541
NM_006267.5(RANBP2):c.8346G>A (p.Gly2782=) rs754320830
NM_006267.5(RANBP2):c.8423T>C (p.Val2808Ala) rs151045545
NM_006267.5(RANBP2):c.8438T>C (p.Met2813Thr) rs1677851038
NM_006267.5(RANBP2):c.8455T>G (p.Leu2819Val) rs2149311826
NM_006267.5(RANBP2):c.8599+3A>G rs1360345262
NM_006267.5(RANBP2):c.8600-6C>T rs2149329123
NM_006267.5(RANBP2):c.8621A>G (p.Asn2874Ser) rs1553502323
NM_006267.5(RANBP2):c.8700T>C (p.Ser2900=) rs750711827
NM_006267.5(RANBP2):c.8916A>C (p.Leu2972=) rs1553502610
NM_006267.5(RANBP2):c.9035A>C (p.Asp3012Ala) rs1558942739
NM_006267.5(RANBP2):c.9038G>A (p.Gly3013Glu) rs1678327966
NM_006267.5(RANBP2):c.9067A>C (p.Arg3023=) rs754606906
NM_006267.5(RANBP2):c.911GTA[1] (p.Ser305del) rs780185468
NM_006267.5(RANBP2):c.9204T>A (p.Phe3068Leu) rs2149332958
NM_006267.5(RANBP2):c.9228T>G (p.Pro3076=) rs2149333019
NM_006267.5(RANBP2):c.9258A>C (p.Ser3086=) rs2149333084
NM_006267.5(RANBP2):c.9292G>T (p.Ala3098Ser) rs1573859262
NM_006267.5(RANBP2):c.9503A>G (p.Asn3168Ser) rs757384021
NM_006267.5(RANBP2):c.951A>C (p.Ala317=) rs750467478
NM_006267.5(RANBP2):c.951A>G (p.Ala317=) rs750467478
NM_006267.5(RANBP2):c.951A>T (p.Ala317=) rs750467478
NM_006267.5(RANBP2):c.967G>C (p.Ala323Pro) rs1553485268
NM_006267.5(RANBP2):c.970T>C (p.Phe324Leu) rs1696012584
NM_014297.5(ETHE1):c.10_13dup (p.Val5fs) rs1255836046
NM_014297.5(ETHE1):c.111G>A (p.Thr37=) rs1177796535
NM_014297.5(ETHE1):c.117G>A (p.Leu39=) rs1212563557
NM_014297.5(ETHE1):c.129_132del (p.Arg43fs) rs761827730
NM_014297.5(ETHE1):c.131_132del (p.Glu44fs) rs761827730
NM_014297.5(ETHE1):c.135C>T (p.Ser45=) rs1972254325
NM_014297.5(ETHE1):c.141G>A (p.Glu47=) rs2513630336
NM_014297.5(ETHE1):c.144C>T (p.Ala48=) rs2146019843
NM_014297.5(ETHE1):c.149T>A (p.Leu50Gln) rs1309080740
NM_014297.5(ETHE1):c.15A>G (p.Val5=) rs2146021485
NM_014297.5(ETHE1):c.162C>T (p.Val54=) rs1454201974
NM_014297.5(ETHE1):c.165G>C (p.Leu55=) rs2513630256
NM_014297.5(ETHE1):c.168A>G (p.Glu56=) rs2146019742
NM_014297.5(ETHE1):c.171A>T (p.Thr57=) rs2513630240
NM_014297.5(ETHE1):c.174G>A (p.Ala58=) rs774616694
NM_014297.5(ETHE1):c.178C>T (p.Arg60Trp) rs2146019729
NM_014297.5(ETHE1):c.186C>T (p.Ala62=) rs2146019699
NM_014297.5(ETHE1):c.189del (p.Gln63fs) rs2146019689
NM_014297.5(ETHE1):c.190C>T (p.Leu64=) rs1160558441
NM_014297.5(ETHE1):c.195C>A (p.Ile65=) rs1183695995
NM_014297.5(ETHE1):c.19_20dup (p.Val8fs) rs2513631762
NM_014297.5(ETHE1):c.1A>C (p.Met1Leu) rs2513631822
NM_014297.5(ETHE1):c.207G>C (p.Gly69=) rs1262384675
NM_014297.5(ETHE1):c.207G>T (p.Gly69=) rs1262384675
NM_014297.5(ETHE1):c.207_208delinsAT (p.Gly69_Leu70=) rs2513630087
NM_014297.5(ETHE1):c.210G>C (p.Leu70=) rs1972251066
NM_014297.5(ETHE1):c.213G>A (p.Arg71=)
NM_014297.5(ETHE1):c.214C>T (p.Leu72=) rs2146019571
NM_014297.5(ETHE1):c.215T>C (p.Leu72Pro) rs1972250897
NM_014297.5(ETHE1):c.216G>A (p.Leu72=) rs1600019733
NM_014297.5(ETHE1):c.219C>G (p.Leu73=) rs2146019555
NM_014297.5(ETHE1):c.219C>T (p.Leu73=) rs2146019555
NM_014297.5(ETHE1):c.221dup (p.Tyr74Ter) rs863223955
NM_014297.5(ETHE1):c.226+10G>C rs376156983
NM_014297.5(ETHE1):c.226+12G>T rs2513629979
NM_014297.5(ETHE1):c.226+1G>T rs1555765524
NM_014297.5(ETHE1):c.226+6T>C rs2146019490
NM_014297.5(ETHE1):c.226+8C>G rs1972250073
NM_014297.5(ETHE1):c.227-12TC[2] rs1343997609
NM_014297.5(ETHE1):c.227-12TC[5] rs1343997609
NM_014297.5(ETHE1):c.227-13C>G rs2513629658
NM_014297.5(ETHE1):c.227-13C>T
NM_014297.5(ETHE1):c.227-17C>T rs2513629673
NM_014297.5(ETHE1):c.227-18C>T rs887570619
NM_014297.5(ETHE1):c.227-2A>C rs370880966
NM_014297.5(ETHE1):c.227-2A>G rs370880966
NM_014297.5(ETHE1):c.227-8T>C rs2146019187
NM_014297.5(ETHE1):c.227-9C>T rs199921503
NM_014297.5(ETHE1):c.241del (p.His81fs) rs2513629589
NM_014297.5(ETHE1):c.245C>A (p.Ala82Glu) rs748794074
NM_014297.5(ETHE1):c.246G>C (p.Ala82=) rs2146019094
NM_014297.5(ETHE1):c.246G>T (p.Ala82=) rs2146019094
NM_014297.5(ETHE1):c.247G>A (p.Asp83Asn) rs2146019088
NM_014297.5(ETHE1):c.24C>T (p.Val8=) rs2513631746
NM_014297.5(ETHE1):c.252_253dup (p.Ile85fs) rs2513629530
NM_014297.5(ETHE1):c.254_258dup (p.Gly87fs) rs2146019063
NM_014297.5(ETHE1):c.264G>A (p.Ser88=) rs777696840
NM_014297.5(ETHE1):c.264G>C (p.Ser88=) rs777696840
NM_014297.5(ETHE1):c.273C>G (p.Leu91=) rs2146018999
NM_014297.5(ETHE1):c.278C>A (p.Ser93Tyr) rs199827754
NM_014297.5(ETHE1):c.285C>G (p.Leu95=) rs2146018946
NM_014297.5(ETHE1):c.295C>T (p.Gln99Ter) rs1600019095
NM_014297.5(ETHE1):c.299C>T (p.Ser100Phe) rs1972243964
NM_014297.5(ETHE1):c.2T>A (p.Met1Lys) rs1470124674
NM_014297.5(ETHE1):c.306C>A (p.Ile102=) rs1972243697
NM_014297.5(ETHE1):c.309C>T (p.Ser103=) rs2146018873
NM_014297.5(ETHE1):c.30G>A (p.Arg10=) rs2513631723
NM_014297.5(ETHE1):c.324C>T (p.Ala108=) rs1382598226
NM_014297.5(ETHE1):c.325C>T (p.Gln109Ter) rs2146018812
NM_014297.5(ETHE1):c.330T>C (p.Ala110=) rs1972242842
NM_014297.5(ETHE1):c.333C>T (p.Asp111=) rs761987682
NM_014297.5(ETHE1):c.337C>T (p.His113Tyr) rs1167625576
NM_014297.5(ETHE1):c.339C>T (p.His113=) rs2513629236
NM_014297.5(ETHE1):c.343G>C (p.Glu115Gln) rs2513629218
NM_014297.5(ETHE1):c.34C>T (p.Gln12Ter) rs1555765701
NM_014297.5(ETHE1):c.351A>G (p.Gly117=) rs2513629198
NM_014297.5(ETHE1):c.366C>T (p.Phe122=) rs1972241332
NM_014297.5(ETHE1):c.369G>A (p.Gly123=) rs2146018650
NM_014297.5(ETHE1):c.36G>A (p.Gln12=) rs1404217308
NM_014297.5(ETHE1):c.372C>T (p.Arg124=) rs1972241147
NM_014297.5(ETHE1):c.375+10G>A rs780974746
NM_014297.5(ETHE1):c.375+10G>T rs780974746
NM_014297.5(ETHE1):c.375+12G>A rs1336470655
NM_014297.5(ETHE1):c.375+13C>G
NM_014297.5(ETHE1):c.375+13_375+16dup rs2513629038
NM_014297.5(ETHE1):c.375+20C>A rs1972240143
NM_014297.5(ETHE1):c.376-10C>A rs1971918676
NM_014297.5(ETHE1):c.376-11del rs2513609893
NM_014297.5(ETHE1):c.376-12C>T rs781192460
NM_014297.5(ETHE1):c.376-13C>G rs2513609897
NM_014297.5(ETHE1):c.376-16C>T
NM_014297.5(ETHE1):c.376-4C>T rs2513609863
NM_014297.5(ETHE1):c.376-5G>C rs886054479
NM_014297.5(ETHE1):c.376-5G>T rs886054479
NM_014297.5(ETHE1):c.376-6del rs2145985142
NM_014297.5(ETHE1):c.376-7C>T rs1332094158
NM_014297.5(ETHE1):c.378G>A (p.Ala126=) rs138427304
NM_014297.5(ETHE1):c.378G>C (p.Ala126=) rs138427304
NM_014297.5(ETHE1):c.378G>T (p.Ala126=) rs138427304
NM_014297.5(ETHE1):c.386C>A (p.Thr129Asn) rs2145985053
NM_014297.5(ETHE1):c.387C>G (p.Thr129=) rs528898300
NM_014297.5(ETHE1):c.387C>T (p.Thr129=) rs528898300
NM_014297.5(ETHE1):c.396C>T (p.Ser132=) rs2513609763
NM_014297.5(ETHE1):c.396_397insAC (p.Pro133fs) rs2513609768
NM_014297.5(ETHE1):c.399T>G (p.Pro133=) rs2513609740
NM_014297.5(ETHE1):c.402C>G (p.Gly134=) rs756287536
NM_014297.5(ETHE1):c.402C>T (p.Gly134=) rs756287536
NM_014297.5(ETHE1):c.405C>T (p.His135=) rs1971916865
NM_014297.5(ETHE1):c.406A>G (p.Thr136Ala) rs1284200516
NM_014297.5(ETHE1):c.406A>T (p.Thr136Ser) rs1284200516
NM_014297.5(ETHE1):c.411A>G (p.Pro137=) rs1213547780
NM_014297.5(ETHE1):c.413del (p.Gly138fs) rs2145984865
NM_014297.5(ETHE1):c.418_419del (p.Val140fs) rs2513609656
NM_014297.5(ETHE1):c.420C>G (p.Val140=) rs374482389
NM_014297.5(ETHE1):c.423C>G (p.Thr141=) rs2145984813
NM_014297.5(ETHE1):c.423C>T (p.Thr141=) rs2145984813
NM_014297.5(ETHE1):c.430C>T (p.Leu144=) rs766774888
NM_014297.5(ETHE1):c.432G>T (p.Leu144=) rs763287958
NM_014297.5(ETHE1):c.43C>T (p.Gln15Ter) rs2146021370
NM_014297.5(ETHE1):c.43del (p.Gln15fs) rs2513631693
NM_014297.5(ETHE1):c.448_469dup (p.Leu157fs) rs2513609504
NM_014297.5(ETHE1):c.449C>A (p.Ala150Asp) rs1971915274
NM_014297.5(ETHE1):c.456T>G (p.Thr152=) rs2145984649
NM_014297.5(ETHE1):c.457G>C (p.Gly153Arg) rs2145984641
NM_014297.5(ETHE1):c.459A>C (p.Gly153=) rs2513609543
NM_014297.5(ETHE1):c.459A>G (p.Gly153=) rs2513609543
NM_014297.5(ETHE1):c.462T>C (p.Asp154=) rs1417283956
NM_014297.5(ETHE1):c.463dup (p.Ala155fs) rs2513609510
NM_014297.5(ETHE1):c.483T>C (p.Cys161=) rs2145984523
NM_014297.5(ETHE1):c.486G>A (p.Gly162=) rs775546723
NM_014297.5(ETHE1):c.495C>A (p.Asp165Glu) rs1054256079
NM_014297.5(ETHE1):c.49G>A (p.Gly17Ser) rs1468127110
NM_014297.5(ETHE1):c.505+20A>G rs2513609361
NM_014297.5(ETHE1):c.505+4A>G rs1568493446
NM_014297.5(ETHE1):c.505+7A>G rs2513609393
NM_014297.5(ETHE1):c.505+8G>A rs1971912539
NM_014297.5(ETHE1):c.505+9C>T rs2145984339
NM_014297.5(ETHE1):c.506-10C>T rs763562161
NM_014297.5(ETHE1):c.506-4C>G rs1971849743
NM_014297.5(ETHE1):c.506-6C>T rs2145979368
NM_014297.5(ETHE1):c.513C>T (p.Ala171=) rs1299509126
NM_014297.5(ETHE1):c.537T>C (p.His179=) rs2145979212
NM_014297.5(ETHE1):c.544A>G (p.Ile182Val) rs1021259650
NM_014297.5(ETHE1):c.549C>T (p.Phe183=) rs1236606387
NM_014297.5(ETHE1):c.54G>A (p.Gly18=) rs2146021321
NM_014297.5(ETHE1):c.552A>G (p.Thr184=) rs780550549
NM_014297.5(ETHE1):c.558A>G (p.Pro186=) rs2145979096
NM_014297.5(ETHE1):c.570G>A (p.Leu190=) rs1971846780
NM_014297.5(ETHE1):c.586G>C (p.Asp196His) rs763799125
NM_014297.5(ETHE1):c.587A>T (p.Asp196Val) rs1008232313
NM_014297.5(ETHE1):c.588T>C (p.Asp196=) rs2513605707
NM_014297.5(ETHE1):c.595+12C>T
NM_014297.5(ETHE1):c.595+15G>A rs2513605657
NM_014297.5(ETHE1):c.595+19A>G rs2145978897
NM_014297.5(ETHE1):c.595+1_595+9dup rs1568491870
NM_014297.5(ETHE1):c.595+2T>A rs761661864
NM_014297.5(ETHE1):c.595+7G>T rs2145978939
NM_014297.5(ETHE1):c.596-13C>T rs1971831724
NM_014297.5(ETHE1):c.596-17C>T rs1368143349
NM_014297.5(ETHE1):c.596-1G>A rs1487930609
NM_014297.5(ETHE1):c.596-2A>G rs863223954
NM_014297.5(ETHE1):c.596-2A>T rs863223954
NM_014297.5(ETHE1):c.596-4C>T rs1971831490
NM_014297.5(ETHE1):c.596-6C>T rs1599982861
NM_014297.5(ETHE1):c.609C>T (p.Ser203=) rs1056355030
NM_014297.5(ETHE1):c.612C>G (p.Thr204=) rs373746054
NM_014297.5(ETHE1):c.612C>T (p.Thr204=) rs373746054
NM_014297.5(ETHE1):c.618G>A (p.Glu206=) rs2513604088
NM_014297.5(ETHE1):c.61del (p.Ala21fs) rs2513631633
NM_014297.5(ETHE1):c.621G>A (p.Glu207=) rs775667650
NM_014297.5(ETHE1):c.622G>T (p.Glu208Ter) rs2145977394
NM_014297.5(ETHE1):c.624G>A (p.Glu208=) rs2513604051
NM_014297.5(ETHE1):c.630T>G (p.Thr210=) rs745956051
NM_014297.5(ETHE1):c.633G>A (p.Leu211=) rs2145977357
NM_014297.5(ETHE1):c.637C>T (p.Pro213Ser) rs774726187
NM_014297.5(ETHE1):c.639T>C (p.Pro213=) rs2513603947
NM_014297.5(ETHE1):c.63C>T (p.Ala21=) rs2513631616
NM_014297.5(ETHE1):c.640C>A (p.Arg214=) rs2145977334
NM_014297.5(ETHE1):c.642G>A (p.Arg214=) rs2145977313
NM_014297.5(ETHE1):c.644T>G (p.Leu215Arg) rs2513603905
NM_014297.5(ETHE1):c.645_655del (p.Leu215_Thr216insTer) rs2145977281
NM_014297.5(ETHE1):c.648C>T (p.Thr216=) rs2145977296
NM_014297.5(ETHE1):c.660G>A (p.Glu220=) rs1477432797
NM_014297.5(ETHE1):c.663G>A (p.Glu221=) rs1971828649
NM_014297.5(ETHE1):c.669C>T (p.Val223=)
NM_014297.5(ETHE1):c.66C>T (p.Pro22=)
NM_014297.5(ETHE1):c.66del (p.Ile23fs) rs1555765689
NM_014297.5(ETHE1):c.675C>A (p.Ile225=) rs2513603801
NM_014297.5(ETHE1):c.706C>T (p.Gln236Ter) rs2513603638
NM_014297.5(ETHE1):c.712+13G>A rs2513603587
NM_014297.5(ETHE1):c.712+15A>T rs1298970699
NM_014297.5(ETHE1):c.712+17C>A rs1345593407
NM_014297.5(ETHE1):c.712+6C>A rs1568491262
NM_014297.5(ETHE1):c.712+7A>C rs2145977099
NM_014297.5(ETHE1):c.713-11C>A
NM_014297.5(ETHE1):c.713-7C>T rs757163002
NM_014297.5(ETHE1):c.713-8C>G rs2513598965
NM_014297.5(ETHE1):c.72C>T (p.Leu24=) rs2513631576
NM_014297.5(ETHE1):c.732C>T (p.Asn244=) rs2513598874
NM_014297.5(ETHE1):c.734T>G (p.Met245Arg) rs777652898
NM_014297.5(ETHE1):c.741T>C (p.Cys247=) rs2513598810
NM_014297.5(ETHE1):c.747G>A (p.Val249=) rs763187239
NM_014297.5(ETHE1):c.756C>T (p.Pro252=) rs1971779868
NM_014297.5(ETHE1):c.759T>C (p.Thr253=) rs765888263
NM_014297.5(ETHE1):c.761C>T (p.Ala254Val) rs1366031091
NM_014297.5(ETHE1):c.762C>T (p.Ala254=) rs777230548
NM_014297.5(ETHE1):c.78G>A (p.Arg26=) rs2513631557
NM_014297.5(ETHE1):c.81+10G>C rs2513631514
NM_014297.5(ETHE1):c.81+10G>T rs2513631514
NM_014297.5(ETHE1):c.81+16C>A rs2513631503
NM_014297.5(ETHE1):c.81+1G>T rs2513631545
NM_014297.5(ETHE1):c.81+7G>C rs1245380812
NM_014297.5(ETHE1):c.81+7del rs2513631523
NM_014297.5(ETHE1):c.82-16G>A rs531028570
NM_014297.5(ETHE1):c.82-16G>C rs531028570
NM_014297.5(ETHE1):c.82-19del rs2513630560
NM_014297.5(ETHE1):c.82-2A>G rs2513630522
NM_014297.5(ETHE1):c.82-8G>C rs2513630530
NM_014297.5(ETHE1):c.82-9C>G rs755359699
NM_014297.5(ETHE1):c.82-9C>T rs755359699
NM_014297.5(ETHE1):c.82-9del rs1416485242
NM_014297.5(ETHE1):c.87C>G (p.Phe29Leu) rs1480478625

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