NM_000268.4(NF2):c.*359G>A
|
rs572307337
|
0.00217
|
NM_000268.4(NF2):c.*2266C>T
|
rs563567208
|
0.00211
|
NM_000268.4(NF2):c.1123-6C>T
|
rs147898623
|
0.00173
|
NM_000268.4(NF2):c.*1287T>C
|
rs1323789315
|
0.00141
|
NM_000268.4(NF2):c.*2365C>T
|
rs765602116
|
0.00078
|
NM_000268.4(NF2):c.1737+2098A>G
|
rs75296199
|
0.00053
|
NM_000268.4(NF2):c.*3313A>T
|
rs188812769
|
0.00047
|
NM_000268.4(NF2):c.*2245C>G
|
rs555359252
|
0.00043
|
NM_000268.4(NF2):c.*1672C>T
|
rs757272448
|
0.00041
|
NM_000268.4(NF2):c.*388C>T
|
rs777219109
|
0.00041
|
NM_000268.4(NF2):c.*420C>T
|
rs541235064
|
0.00038
|
NM_000268.4(NF2):c.*3133A>G
|
rs527795536
|
0.00032
|
NM_000268.4(NF2):c.1340+8G>T
|
rs370604189
|
0.00029
|
NM_000268.4(NF2):c.*1652G>T
|
rs751068883
|
0.00019
|
NM_000268.4(NF2):c.1639G>A (p.Glu547Lys)
|
rs199669486
|
0.00019
|
NM_000268.4(NF2):c.613A>G (p.Met205Val)
|
rs141629512
|
0.00016
|
NM_000268.4(NF2):c.*1159G>A
|
rs963216314
|
0.00015
|
NM_000268.4(NF2):c.*1823C>T
|
rs190590507
|
0.00015
|
NM_000268.4(NF2):c.*2911C>T
|
rs908552289
|
0.00014
|
NM_000268.4(NF2):c.*3107T>G
|
rs886057381
|
0.00014
|
NM_000268.4(NF2):c.107A>G (p.Asn36Ser)
|
rs372279458
|
0.00014
|
NM_000268.4(NF2):c.240+15C>T
|
rs200701337
|
0.00014
|
NM_000268.4(NF2):c.1439C>T (p.Thr480Met)
|
rs145666157
|
0.00013
|
NM_000268.4(NF2):c.652G>A (p.Gly218Ser)
|
rs776818377
|
0.00013
|
NM_000268.4(NF2):c.*3083C>T
|
rs774123103
|
0.00011
|
NM_000268.4(NF2):c.1385G>A (p.Arg462His)
|
rs373650983
|
0.00011
|
NM_000268.4(NF2):c.*3644C>T
|
rs372862060
|
0.00010
|
NM_000268.4(NF2):c.*957C>T
|
rs531577838
|
0.00010
|
NM_000268.4(NF2):c.1445C>G (p.Pro482Arg)
|
rs766339217
|
0.00010
|
NM_000268.4(NF2):c.1737+1432G>A
|
rs746764835
|
0.00010
|
NM_000268.4(NF2):c.*1294T>G
|
rs886057355
|
0.00009
|
NM_000268.4(NF2):c.*3645G>A
|
rs940585787
|
0.00009
|
NM_000268.4(NF2):c.1540A>G (p.Met514Val)
|
rs201527155
|
0.00009
|
NM_000268.4(NF2):c.879T>C (p.Asn293=)
|
rs151198477
|
0.00009
|
NM_000268.4(NF2):c.*532G>T
|
rs886057346
|
0.00008
|
NM_000268.4(NF2):c.*1538C>G
|
rs766153036
|
0.00007
|
NM_000268.4(NF2):c.*284C>T
|
rs970058734
|
0.00007
|
NM_000268.4(NF2):c.*695C>T
|
rs903678547
|
0.00007
|
NM_000268.4(NF2):c.*106C>T
|
rs886057338
|
0.00006
|
NM_000268.4(NF2):c.*335C>T
|
rs886057345
|
0.00006
|
NM_000268.4(NF2):c.*3646C>T
|
rs886057390
|
0.00006
|
NM_000268.4(NF2):c.*561C>G
|
rs776610927
|
0.00006
|
NM_000268.4(NF2):c.*136G>A
|
rs886057340
|
0.00005
|
NM_000268.4(NF2):c.*189A>C
|
rs754717476
|
0.00005
|
NM_000268.4(NF2):c.*944G>A
|
rs918313102
|
0.00005
|
NM_000268.4(NF2):c.947T>G (p.Leu316Trp)
|
rs750633919
|
0.00005
|
NM_000268.4(NF2):c.*3720C>A
|
rs1254681428
|
0.00004
|
NM_000268.4(NF2):c.1252C>T (p.Arg418Cys)
|
rs765540111
|
0.00004
|
NM_000268.4(NF2):c.1575-5G>A
|
rs199622889
|
0.00004
|
NM_000268.4(NF2):c.1619A>G (p.Asn540Ser)
|
rs774824164
|
0.00004
|
NM_000268.4(NF2):c.243_248del (p.Leu82_Asp83del)
|
rs777858863
|
0.00004
|
NM_000268.4(NF2):c.255T>C (p.Asp85=)
|
rs375802248
|
0.00004
|
NM_000268.4(NF2):c.325C>T (p.Leu109=)
|
rs201603384
|
0.00004
|
NM_000268.4(NF2):c.662A>G (p.Tyr221Cys)
|
rs746025177
|
0.00004
|
NM_000268.4(NF2):c.*2310C>T
|
rs777037756
|
0.00003
|
NM_000268.4(NF2):c.*3055C>T
|
rs886057380
|
0.00003
|
NM_000268.4(NF2):c.1055C>T (p.Thr352Met)
|
rs764441073
|
0.00003
|
NM_000268.4(NF2):c.1231C>T (p.Arg411Cys)
|
rs773296925
|
0.00003
|
NM_000268.4(NF2):c.1300G>A (p.Glu434Lys)
|
rs992662337
|
0.00003
|
NM_000268.4(NF2):c.1490G>C (p.Ser497Thr)
|
rs900545157
|
0.00003
|
NM_000268.4(NF2):c.170G>A (p.Arg57Gln)
|
rs368773485
|
0.00003
|
NM_000268.4(NF2):c.1774T>C (p.Phe592Leu)
|
rs764972504
|
0.00003
|
NM_000268.4(NF2):c.436G>A (p.Val146Ile)
|
rs771572024
|
0.00003
|
NM_000268.4(NF2):c.*204C>T
|
rs994080977
|
0.00002
|
NM_000268.4(NF2):c.*2332C>T
|
rs1366330139
|
0.00002
|
NM_000268.4(NF2):c.1012C>T (p.Arg338Cys)
|
rs761795291
|
0.00002
|
NM_000268.4(NF2):c.1013G>A (p.Arg338His)
|
rs768053145
|
0.00002
|
NM_000268.4(NF2):c.1018G>A (p.Ala340Thr)
|
rs780430071
|
0.00002
|
NM_000268.4(NF2):c.1052G>A (p.Arg351His)
|
rs771675702
|
0.00002
|
NM_000268.4(NF2):c.1138A>G (p.Thr380Ala)
|
rs1468789751
|
0.00002
|
NM_000268.4(NF2):c.1391C>T (p.Ala464Val)
|
rs776109136
|
0.00002
|
NM_000268.4(NF2):c.1699G>A (p.Asp567Asn)
|
rs757586383
|
0.00002
|
NM_000268.4(NF2):c.1738-19C>A
|
rs958907803
|
0.00002
|
NM_000268.4(NF2):c.515G>A (p.Arg172Lys)
|
rs752963731
|
0.00002
|
NM_000268.4(NF2):c.599+3G>A
|
rs768301915
|
0.00002
|
NM_000268.4(NF2):c.600-13G>A
|
rs374509697
|
0.00002
|
NM_000268.4(NF2):c.614T>C (p.Met205Thr)
|
rs747871414
|
0.00002
|
NM_000268.4(NF2):c.683A>G (p.Lys228Arg)
|
rs145384260
|
0.00002
|
NM_000268.4(NF2):c.785G>A (p.Arg262Gln)
|
rs1450914413
|
0.00002
|
NM_000268.4(NF2):c.872G>A (p.Arg291His)
|
rs755200117
|
0.00002
|
NM_000268.4(NF2):c.916C>G (p.Leu306Val)
|
rs1399716137
|
0.00002
|
NM_000268.4(NF2):c.*1326T>C
|
rs886057358
|
0.00001
|
NM_000268.4(NF2):c.*2003T>G
|
rs886057367
|
0.00001
|
NM_000268.4(NF2):c.*3018C>T
|
rs886057379
|
0.00001
|
NM_000268.4(NF2):c.*3671G>A
|
rs945192133
|
0.00001
|
NM_000268.4(NF2):c.*397C>T
|
rs1196661857
|
0.00001
|
NM_000268.4(NF2):c.*942C>T
|
rs928342675
|
0.00001
|
NM_000268.4(NF2):c.1007G>A (p.Arg336Gln)
|
rs587778554
|
0.00001
|
NM_000268.4(NF2):c.100G>C (p.Glu34Gln)
|
rs753425376
|
0.00001
|
NM_000268.4(NF2):c.1021C>G (p.Arg341Gly)
|
rs74315499
|
0.00001
|
NM_000268.4(NF2):c.1051C>T (p.Arg351Cys)
|
rs747756728
|
0.00001
|
NM_000268.4(NF2):c.1065G>C (p.Glu355Asp)
|
rs1277506366
|
0.00001
|
NM_000268.4(NF2):c.1074G>C (p.Arg358Ser)
|
rs770949972
|
0.00001
|
NM_000268.4(NF2):c.1112A>G (p.Asn371Ser)
|
rs577940601
|
0.00001
|
NM_000268.4(NF2):c.1126C>T (p.Arg376Trp)
|
rs867367858
|
0.00001
|
NM_000268.4(NF2):c.114+6C>T
|
rs1060503671
|
0.00001
|
NM_000268.4(NF2):c.1174G>A (p.Glu392Lys)
|
rs1026724985
|
0.00001
|
NM_000268.4(NF2):c.1231C>G (p.Arg411Gly)
|
rs773296925
|
0.00001
|
NM_000268.4(NF2):c.1232G>A (p.Arg411His)
|
rs201214090
|
0.00001
|
NM_000268.4(NF2):c.1247C>T (p.Ala416Val)
|
rs2066862902
|
0.00001
|
NM_000268.4(NF2):c.1253G>A (p.Arg418His)
|
rs548217466
|
0.00001
|
NM_000268.4(NF2):c.1270C>T (p.Arg424Cys)
|
rs763826793
|
0.00001
|
NM_000268.4(NF2):c.1271G>A (p.Arg424His)
|
rs751182657
|
0.00001
|
NM_000268.4(NF2):c.1276A>T (p.Met426Leu)
|
rs926406926
|
0.00001
|
NM_000268.4(NF2):c.1303G>T (p.Val435Leu)
|
rs772334382
|
0.00001
|
NM_000268.4(NF2):c.1340+6G>T
|
rs914659916
|
0.00001
|
NM_000268.4(NF2):c.1364A>G (p.Lys455Arg)
|
rs1318882444
|
0.00001
|
NM_000268.4(NF2):c.1396C>G (p.Arg466Gly)
|
rs74315504
|
0.00001
|
NM_000268.4(NF2):c.1400G>A (p.Arg467Lys)
|
rs1294032875
|
0.00001
|
NM_000268.4(NF2):c.142G>A (p.Asp48Asn)
|
rs1352608076
|
0.00001
|
NM_000268.4(NF2):c.1442A>G (p.Tyr481Cys)
|
rs2066916034
|
0.00001
|
NM_000268.4(NF2):c.1445C>T (p.Pro482Leu)
|
rs766339217
|
0.00001
|
NM_000268.4(NF2):c.1446G>A (p.Pro482=)
|
rs753751373
|
0.00001
|
NM_000268.4(NF2):c.1450A>G (p.Met484Val)
|
rs1182896077
|
0.00001
|
NM_000268.4(NF2):c.1453A>T (p.Asn485Tyr)
|
rs1601658875
|
0.00001
|
NM_000268.4(NF2):c.1459A>G (p.Ile487Val)
|
rs147506929
|
0.00001
|
NM_000268.4(NF2):c.1463C>T (p.Pro488Leu)
|
rs1173959854
|
0.00001
|
NM_000268.4(NF2):c.1469C>T (p.Pro490Leu)
|
rs765100922
|
0.00001
|
NM_000268.4(NF2):c.1502T>C (p.Ile501Thr)
|
rs767682136
|
0.00001
|
NM_000268.4(NF2):c.1511G>T (p.Ser504Ile)
|
rs756366940
|
0.00001
|
NM_000268.4(NF2):c.1522G>A (p.Asp508Asn)
|
rs749326764
|
0.00001
|
NM_000268.4(NF2):c.1529A>G (p.Lys510Arg)
|
rs886057337
|
0.00001
|
NM_000268.4(NF2):c.154C>T (p.Arg52Trp)
|
rs764901064
|
0.00001
|
NM_000268.4(NF2):c.1581A>T (p.Glu527Asp)
|
rs770627371
|
0.00001
|
NM_000268.4(NF2):c.1586T>C (p.Met529Thr)
|
rs780818183
|
0.00001
|
NM_000268.4(NF2):c.1675G>T (p.Asp559Tyr)
|
rs917012886
|
0.00001
|
NM_000268.4(NF2):c.1678A>G (p.Ile560Val)
|
rs557347747
|
0.00001
|
NM_000268.4(NF2):c.1688A>G (p.Asn563Ser)
|
rs768303416
|
0.00001
|
NM_000268.4(NF2):c.1691A>G (p.Glu564Gly)
|
rs1416009957
|
0.00001
|
NM_000268.4(NF2):c.1701C>G (p.Asp567Glu)
|
rs1049732514
|
0.00001
|
NM_000268.4(NF2):c.1702_1703del (p.Arg568fs)
|
rs755032702
|
0.00001
|
NM_000268.4(NF2):c.1706G>A (p.Gly569Asp)
|
rs781488145
|
0.00001
|
NM_000268.4(NF2):c.1763G>A (p.Arg588Gln)
|
rs766689587
|
0.00001
|
NM_000268.4(NF2):c.1765G>A (p.Val589Met)
|
rs1293851600
|
0.00001
|
NM_000268.4(NF2):c.1767G>A (p.Val589=)
|
rs754168138
|
0.00001
|
NM_000268.4(NF2):c.182T>C (p.Phe61Ser)
|
rs1286915234
|
0.00001
|
NM_000268.4(NF2):c.196T>A (p.Tyr66Asn)
|
rs772274240
|
0.00001
|
NM_000268.4(NF2):c.240+6G>C
|
rs771417406
|
0.00001
|
NM_000268.4(NF2):c.251A>G (p.His84Arg)
|
rs773740023
|
0.00001
|
NM_000268.4(NF2):c.274G>A (p.Val92Ile)
|
rs145935225
|
0.00001
|
NM_000268.4(NF2):c.296A>G (p.Lys99Arg)
|
rs181794923
|
0.00001
|
NM_000268.4(NF2):c.302A>G (p.Tyr101Cys)
|
rs1240469044
|
0.00001
|
NM_000268.4(NF2):c.319G>A (p.Glu107Lys)
|
rs1435118870
|
0.00001
|
NM_000268.4(NF2):c.334G>A (p.Glu112Lys)
|
rs781593146
|
0.00001
|
NM_000268.4(NF2):c.343C>G (p.Gln115Glu)
|
rs1350618734
|
0.00001
|
NM_000268.4(NF2):c.347A>G (p.His116Arg)
|
rs371373672
|
0.00001
|
NM_000268.4(NF2):c.363+5A>G
|
rs1361659919
|
0.00001
|
NM_000268.4(NF2):c.364-5T>C
|
rs1330676517
|
0.00001
|
NM_000268.4(NF2):c.457T>C (p.Tyr153His)
|
rs1374299963
|
0.00001
|
NM_000268.4(NF2):c.478C>T (p.Arg160Trp)
|
rs150667239
|
0.00001
|
NM_000268.4(NF2):c.521T>C (p.Ile174Thr)
|
rs1346860299
|
0.00001
|
NM_000268.4(NF2):c.542C>T (p.Pro181Leu)
|
rs1362524399
|
0.00001
|
NM_000268.4(NF2):c.577G>A (p.Ala193Thr)
|
rs1427589827
|
0.00001
|
NM_000268.4(NF2):c.595G>A (p.Ala199Thr)
|
rs1261707371
|
0.00001
|
NM_000268.4(NF2):c.598A>G (p.Arg200Gly)
|
rs1487106309
|
0.00001
|
NM_000268.4(NF2):c.673C>T (p.Arg225Trp)
|
rs1386029079
|
0.00001
|
NM_000268.4(NF2):c.674G>A (p.Arg225Gln)
|
rs543087642
|
0.00001
|
NM_000268.4(NF2):c.675+4T>C
|
rs1306740609
|
0.00001
|
NM_000268.4(NF2):c.675+6T>C
|
rs1349181077
|
0.00001
|
NM_000268.4(NF2):c.676-104G>A
|
rs1040559021
|
0.00001
|
NM_000268.4(NF2):c.685G>T (p.Gly229Cys)
|
rs1028670573
|
0.00001
|
NM_000268.4(NF2):c.713C>T (p.Ala238Val)
|
rs761195572
|
0.00001
|
NM_000268.4(NF2):c.71T>C (p.Val24Ala)
|
rs773714780
|
0.00001
|
NM_000268.4(NF2):c.758A>G (p.Lys253Arg)
|
rs773573049
|
0.00001
|
NM_000268.4(NF2):c.769C>T (p.Pro257Ser)
|
rs777059212
|
0.00001
|
NM_000268.4(NF2):c.76A>G (p.Ile26Val)
|
rs2064716753
|
0.00001
|
NM_000268.4(NF2):c.770C>T (p.Pro257Leu)
|
rs753300935
|
0.00001
|
NM_000268.4(NF2):c.827T>C (p.Leu276Pro)
|
rs549225513
|
0.00001
|
NM_000268.4(NF2):c.874G>A (p.Val292Ile)
|
rs1442581021
|
0.00001
|
NM_000268.4(NF2):c.903C>T (p.Ile301=)
|
rs199957176
|
0.00001
|
NM_000268.4(NF2):c.932G>A (p.Arg311Lys)
|
rs1169276398
|
0.00001
|
NM_000268.4(NF2):c.940G>A (p.Asp314Asn)
|
rs1365006505
|
0.00001
|
NM_000268.4(NF2):c.94G>A (p.Glu32Lys)
|
rs373337083
|
0.00001
|
NM_000268.4(NF2):c.952G>A (p.Val318Ile)
|
rs996057882
|
0.00001
|
NM_000268.4(NF2):c.983A>T (p.Glu328Val)
|
rs200372028
|
0.00001
|
NM_000268.4(NF2):c.999G>C (p.Gln333His)
|
rs1469191017
|
0.00001
|
GRCh37/hg19 22q12.2(chr22:30021252-30112364)x3
|
|
|
GRCh37/hg19 22q12.2(chr22:30056933-30095061)x3
|
|
|
GRCh37/hg19 22q12.2(chr22:30079458-30082255)x1
|
|
|
GRCh37/hg19 22q12.2(chr22:30090741-30090791)x1
|
|
|
NC_000022.10:g.(?_29999982)_(30000107_?)dup
|
|
|
NC_000022.10:g.(?_30032730)_(30090791_?)dup
|
|
|
NC_000022.10:g.(?_30070819)_(30090797_?)dup
|
|
|
NC_000022.10:g.(?_30074175)_(30090791_?)dup
|
|
|
NC_000022.10:g.(?_30090731)_(30090801_?)dup
|
|
|
NC_000022.11:g.(?_29603989)_(29604122_?)dup
|
|
|
NC_000022.11:g.(?_29603989)_(29694812_?)dup
|
|
|
NC_000022.11:g.(?_29603999)_(29604122_?)dup
|
|
|
NC_000022.11:g.(?_29603999)_(29694802_?)dup
|
|
|
NC_000022.11:g.(?_29636741)_(29694812_?)dup
|
|
|
NC_000022.11:g.(?_29654651)_(29654731_?)del
|
|
|
NM_000268.4(NF2):c.*1007C>A
|
rs886057350
|
|
NM_000268.4(NF2):c.*109G>T
|
rs886057339
|
|
NM_000268.4(NF2):c.*1111G>T
|
rs886057351
|
|
NM_000268.4(NF2):c.*1260dup
|
rs886057352
|
|
NM_000268.4(NF2):c.*1264C>T
|
rs879093980
|
|
NM_000268.4(NF2):c.*1264del
|
rs886057353
|
|
NM_000268.4(NF2):c.*1287dup
|
rs886057354
|
|
NM_000268.4(NF2):c.*1297A>G
|
rs886057356
|
|
NM_000268.4(NF2):c.*1418T>C
|
rs2067549880
|
|
NM_000268.4(NF2):c.*1439T>C
|
rs886057359
|
|
NM_000268.4(NF2):c.*1522C>A
|
rs886057360
|
|
NM_000268.4(NF2):c.*1559C>A
|
rs886057361
|
|
NM_000268.4(NF2):c.*158T>C
|
rs886057341
|
|
NM_000268.4(NF2):c.*1624G>A
|
rs2067554749
|
|
NM_000268.4(NF2):c.*1668G>T
|
rs2067555780
|
|
NM_000268.4(NF2):c.*1736T>A
|
rs2067557400
|
|
NM_000268.4(NF2):c.*1737C>A
|
rs886057362
|
|
NM_000268.4(NF2):c.*1782T>C
|
rs886057363
|
|
NM_000268.4(NF2):c.*1848C>T
|
rs886057364
|
|
NM_000268.4(NF2):c.*199C>A
|
rs886057342
|
|
NM_000268.4(NF2):c.*2007del
|
rs886057365
|
|
NM_000268.4(NF2):c.*2007dup
|
rs886057365
|
|
NM_000268.4(NF2):c.*2010G>T
|
rs886057368
|
|
NM_000268.4(NF2):c.*2020C>T
|
rs886057370
|
|
NM_000268.4(NF2):c.*2021dup
|
rs886057369
|
|
NM_000268.4(NF2):c.*2031_*2032dup
|
rs11442202
|
|
NM_000268.4(NF2):c.*2039dup
|
rs886057371
|
|
NM_000268.4(NF2):c.*2068G>T
|
rs886057372
|
|
NM_000268.4(NF2):c.*2153T>C
|
rs2067569610
|
|
NM_000268.4(NF2):c.*2205G>A
|
rs886057373
|
|
NM_000268.4(NF2):c.*2206G>A
|
rs886057374
|
|
NM_000268.4(NF2):c.*2215A>G
|
rs1268927936
|
|
NM_000268.4(NF2):c.*2373C>A
|
rs886057375
|
|
NM_000268.4(NF2):c.*2396G>T
|
rs886057376
|
|
NM_000268.4(NF2):c.*2445G>A
|
rs2067578496
|
|
NM_000268.4(NF2):c.*2499C>A
|
rs569992376
|
|
NM_000268.4(NF2):c.*256T>C
|
rs2067510752
|
|
NM_000268.4(NF2):c.*2612T>C
|
rs2067582962
|
|
NM_000268.4(NF2):c.*266G>T
|
rs886057343
|
|
NM_000268.4(NF2):c.*2670C>A
|
rs763727745
|
|
NM_000268.4(NF2):c.*2753A>G
|
rs199805259
|
|
NM_000268.4(NF2):c.*2803C>A
|
rs886057377
|
|
NM_000268.4(NF2):c.*293C>A
|
rs886057344
|
|
NM_000268.4(NF2):c.*2999G>C
|
rs886057378
|
|
NM_000268.4(NF2):c.*3140G>T
|
rs886057382
|
|
NM_000268.4(NF2):c.*3189G>T
|
rs886057383
|
|
NM_000268.4(NF2):c.*3266C>A
|
rs886057384
|
|
NM_000268.4(NF2):c.*3298G>T
|
rs886057385
|
|
NM_000268.4(NF2):c.*3319del
|
rs372162228
|
|
NM_000268.4(NF2):c.*3443G>T
|
rs886057387
|
|
NM_000268.4(NF2):c.*3480T>G
|
rs886057388
|
|
NM_000268.4(NF2):c.*3613_*3618del
|
rs755969033
|
|
NM_000268.4(NF2):c.*3670C>T
|
rs886057391
|
|
NM_000268.4(NF2):c.*3715C>A
|
rs886057392
|
|
NM_000268.4(NF2):c.*3765G>T
|
rs889238499
|
|
NM_000268.4(NF2):c.*3783T>C
|
rs886057393
|
|
NM_000268.4(NF2):c.*527G>T
|
rs985623687
|
|
NM_000268.4(NF2):c.*573C>T
|
rs543669369
|
|
NM_000268.4(NF2):c.*587G>T
|
rs886057347
|
|
NM_000268.4(NF2):c.*758G>A
|
rs2067527551
|
|
NM_000268.4(NF2):c.*768_*769dup
|
rs886057348
|
|
NM_000268.4(NF2):c.*801A>G
|
rs2067528675
|
|
NM_000268.4(NF2):c.*860C>T
|
rs962811939
|
|
NM_000268.4(NF2):c.*913C>T
|
rs2067531367
|
|
NM_000268.4(NF2):c.*937C>T
|
rs2067531980
|
|
NM_000268.4(NF2):c.*977C>T
|
rs868389072
|
|
NM_000268.4(NF2):c.*987C>A
|
rs886057349
|
|
NM_000268.4(NF2):c.-1C>T
|
|
|
NM_000268.4(NF2):c.-4_-3delinsAA
|
|
|
NM_000268.4(NF2):c.-5G>A
|
|
|
NM_000268.4(NF2):c.-5G>T
|
|
|
NM_000268.4(NF2):c.1000-2A>T
|
|
|
NM_000268.4(NF2):c.1000A>G (p.Met334Val)
|
rs1556000094
|
|
NM_000268.4(NF2):c.1001T>A (p.Met334Lys)
|
rs2066798910
|
|
NM_000268.4(NF2):c.1001T>G (p.Met334Arg)
|
|
|
NM_000268.4(NF2):c.1003G>A (p.Glu335Lys)
|
rs1601643866
|
|
NM_000268.4(NF2):c.1006C>T (p.Arg336Trp)
|
rs140266312
|
|
NM_000268.4(NF2):c.100_117del (p.Glu34_Met39del)
|
rs2064717929
|
|
NM_000268.4(NF2):c.1013G>T (p.Arg338Leu)
|
|
|
NM_000268.4(NF2):c.1016T>G (p.Leu339Arg)
|
|
|
NM_000268.4(NF2):c.1018G>T (p.Ala340Ser)
|
rs780430071
|
|
NM_000268.4(NF2):c.1022G>A (p.Arg341Gln)
|
rs754087071
|
|
NM_000268.4(NF2):c.1022G>C (p.Arg341Pro)
|
rs754087071
|
|
NM_000268.4(NF2):c.1022G>T (p.Arg341Leu)
|
rs754087071
|
|
NM_000268.4(NF2):c.1024G>C (p.Glu342Gln)
|
|
|
NM_000268.4(NF2):c.1025A>C (p.Glu342Ala)
|
|
|
NM_000268.4(NF2):c.1028A>C (p.Lys343Thr)
|
|
|
NM_000268.4(NF2):c.1031A>G (p.Gln344Arg)
|
|
|
NM_000268.4(NF2):c.1034T>G (p.Met345Arg)
|
|
|
NM_000268.4(NF2):c.1036A>T (p.Arg346Trp)
|
|
|
NM_000268.4(NF2):c.1037G>A (p.Arg346Lys)
|
rs1556000154
|
|
NM_000268.4(NF2):c.1038G>T (p.Arg346Ser)
|
rs2066801644
|
|
NM_000268.4(NF2):c.1040A>T (p.Glu347Val)
|
|
|
NM_000268.4(NF2):c.1043A>T (p.Glu348Val)
|
|
|
NM_000268.4(NF2):c.1048G>A (p.Glu350Lys)
|
rs778412102
|
|
NM_000268.4(NF2):c.104T>G (p.Phe35Cys)
|
|
|
NM_000268.4(NF2):c.1055C>G (p.Thr352Arg)
|
|
|
NM_000268.4(NF2):c.1058G>A (p.Arg353Lys)
|
rs2147072682
|
|
NM_000268.4(NF2):c.1059G>C (p.Arg353Ser)
|
rs1379674036
|
|
NM_000268.4(NF2):c.105C>G (p.Phe35Leu)
|
|
|
NM_000268.4(NF2):c.1060G>A (p.Asp354Asn)
|
rs1435353346
|
|
NM_000268.4(NF2):c.1060G>C (p.Asp354His)
|
rs1435353346
|
|
NM_000268.4(NF2):c.1061A>C (p.Asp354Ala)
|
rs1601644179
|
|
NM_000268.4(NF2):c.1064A>G (p.Glu355Gly)
|
|
|
NM_000268.4(NF2):c.1064A>T (p.Glu355Val)
|
|
|
NM_000268.4(NF2):c.1066T>A (p.Leu356Met)
|
rs1178334764
|
|
NM_000268.4(NF2):c.1069G>A (p.Glu357Lys)
|
rs2147072954
|
|
NM_000268.4(NF2):c.106A>G (p.Asn36Asp)
|
|
|
NM_000268.4(NF2):c.1072A>G (p.Arg358Gly)
|
rs2147073033
|
|
NM_000268.4(NF2):c.1075A>G (p.Arg359Gly)
|
|
|
NM_000268.4(NF2):c.1077G>C (p.Arg359Ser)
|
|
|
NM_000268.4(NF2):c.107A>T (p.Asn36Ile)
|
rs372279458
|
|
NM_000268.4(NF2):c.1085A>G (p.Gln362Arg)
|
|
|
NM_000268.4(NF2):c.1087A>G (p.Met363Val)
|
rs776499914
|
|
NM_000268.4(NF2):c.1088T>A (p.Met363Lys)
|
rs2066804849
|
|
NM_000268.4(NF2):c.1088T>C (p.Met363Thr)
|
|
|
NM_000268.4(NF2):c.1088T>G (p.Met363Arg)
|
rs2066804849
|
|
NM_000268.4(NF2):c.1089G>A (p.Met363Ile)
|
|
|
NM_000268.4(NF2):c.1092A>T (p.Lys364Asn)
|
rs1601644296
|
|
NM_000268.4(NF2):c.1097A>C (p.Glu366Ala)
|
|
|
NM_000268.4(NF2):c.10G>T (p.Ala4Ser)
|
rs2146659577
|
|
NM_000268.4(NF2):c.1100C>G (p.Ala367Gly)
|
|
|
NM_000268.4(NF2):c.1103C>T (p.Thr368Ile)
|
rs1556000214
|
|
NM_000268.4(NF2):c.1105A>C (p.Met369Leu)
|
|
|
NM_000268.4(NF2):c.1105A>G (p.Met369Val)
|
rs1325119842
|
|
NM_000268.4(NF2):c.1107G>A (p.Met369Ile)
|
|
|
NM_000268.4(NF2):c.110G>A (p.Cys37Tyr)
|
|
|
NM_000268.4(NF2):c.1113C>G (p.Asn371Lys)
|
rs142459414
|
|
NM_000268.4(NF2):c.1117G>A (p.Ala373Thr)
|
|
|
NM_000268.4(NF2):c.111C>T (p.Cys37=)
|
rs1302428933
|
|
NM_000268.4(NF2):c.1122+13G>T
|
|
|
NM_000268.4(NF2):c.1122+3G>T
|
|
|
NM_000268.4(NF2):c.1122G>A (p.Leu374=)
|
|
|
NM_000268.4(NF2):c.1123-6C>G
|
|
|
NM_000268.4(NF2):c.1123-7C>G
|
rs559511611
|
|
NM_000268.4(NF2):c.1123A>G (p.Met375Val)
|
rs2147082175
|
|
NM_000268.4(NF2):c.1124T>C (p.Met375Thr)
|
rs1556000763
|
|
NM_000268.4(NF2):c.1124T>G (p.Met375Arg)
|
|
|
NM_000268.4(NF2):c.1125G>A (p.Met375Ile)
|
|
|
NM_000268.4(NF2):c.1127G>A (p.Arg376Gln)
|
rs996964764
|
|
NM_000268.4(NF2):c.1127G>C (p.Arg376Pro)
|
|
|
NM_000268.4(NF2):c.1127G>T (p.Arg376Leu)
|
rs996964764
|
|
NM_000268.4(NF2):c.1129T>G (p.Ser377Ala)
|
rs1569305865
|
|
NM_000268.4(NF2):c.1130C>G (p.Ser377Cys)
|
|
|
NM_000268.4(NF2):c.114+4A>G
|
rs1207246677
|
|
NM_000268.4(NF2):c.114+4A>T
|
rs1207246677
|
|
NM_000268.4(NF2):c.114+6C>A
|
rs1060503671
|
|
NM_000268.4(NF2):c.114+6C>G
|
rs1060503671
|
|
NM_000268.4(NF2):c.1142C>T (p.Ala381Val)
|
|
|
NM_000268.4(NF2):c.1146C>A (p.Asp382Glu)
|
|
|
NM_000268.4(NF2):c.115-17T>G
|
|
|
NM_000268.4(NF2):c.115-20_115-19delinsGT
|
|
|
NM_000268.4(NF2):c.115-3C>T
|
rs2065657841
|
|
NM_000268.4(NF2):c.115-4G>T
|
|
|
NM_000268.4(NF2):c.115-8101del
|
rs5844863
|
|
NM_000268.4(NF2):c.115A>G (p.Met39Val)
|
rs761188569
|
|
NM_000268.4(NF2):c.1163C>T (p.Ala388Val)
|
rs587778553
|
|
NM_000268.4(NF2):c.1165C>G (p.Gln389Glu)
|
rs2066859953
|
|
NM_000268.4(NF2):c.1167G>C (p.Gln389His)
|
|
|
NM_000268.4(NF2):c.1171A>T (p.Thr391Ser)
|
|
|
NM_000268.4(NF2):c.1175AGG[4] (p.Glu394_Ala395insGlu)
|
|
|
NM_000268.4(NF2):c.1183G>T (p.Ala395Ser)
|
rs1601648303
|
|
NM_000268.4(NF2):c.1189C>G (p.Leu397Val)
|
|
|
NM_000268.4(NF2):c.1191_1193del (p.Leu398del)
|
|
|
NM_000268.4(NF2):c.1195G>A (p.Ala399Thr)
|
rs2147082690
|
|
NM_000268.4(NF2):c.1202A>G (p.Lys401Arg)
|
|
|
NM_000268.4(NF2):c.1203G>T (p.Lys401Asn)
|
|
|
NM_000268.4(NF2):c.1205C>T (p.Ala402Val)
|
|
|
NM_000268.4(NF2):c.1207G>A (p.Ala403Thr)
|
rs2066861004
|
|
NM_000268.4(NF2):c.1207G>T (p.Ala403Ser)
|
rs2066861004
|
|
NM_000268.4(NF2):c.1220A>G (p.Gln407Arg)
|
|
|
NM_000268.4(NF2):c.1222G>A (p.Glu408Lys)
|
|
|
NM_000268.4(NF2):c.1223A>G (p.Glu408Gly)
|
|
|
NM_000268.4(NF2):c.1226T>C (p.Met409Thr)
|
|
|
NM_000268.4(NF2):c.1229A>G (p.Gln410Arg)
|
|
|
NM_000268.4(NF2):c.1234A>C (p.Ile412Leu)
|
rs2066862452
|
|
NM_000268.4(NF2):c.1234A>G (p.Ile412Val)
|
rs2066862452
|
|
NM_000268.4(NF2):c.1237A>G (p.Lys413Glu)
|
rs766974263
|
|
NM_000268.4(NF2):c.1240G>A (p.Ala414Thr)
|
rs2147083098
|
|
NM_000268.4(NF2):c.1243A>G (p.Thr415Ala)
|
rs776970251
|
|
NM_000268.4(NF2):c.1247C>G (p.Ala416Gly)
|
|
|
NM_000268.4(NF2):c.1251T>G (p.Ile417Met)
|
|
|
NM_000268.4(NF2):c.1256C>A (p.Thr419Lys)
|
|
|
NM_000268.4(NF2):c.1256C>G (p.Thr419Arg)
|
|
|
NM_000268.4(NF2):c.1256C>T (p.Thr419Met)
|
rs1216540232
|
|
NM_000268.4(NF2):c.1258GAG[2] (p.Glu422del)
|
rs2066863778
|
|
NM_000268.4(NF2):c.1263G>C (p.Glu421Asp)
|
rs2147083348
|
|
NM_000268.4(NF2):c.1264G>A (p.Glu422Lys)
|
rs2066864084
|
|
NM_000268.4(NF2):c.1268A>C (p.Lys423Thr)
|
|
|
NM_000268.4(NF2):c.1268A>G (p.Lys423Arg)
|
rs2147083382
|
|
NM_000268.4(NF2):c.1269G>T (p.Lys423Asn)
|
|
|
NM_000268.4(NF2):c.1270C>A (p.Arg424Ser)
|
rs763826793
|
|
NM_000268.4(NF2):c.1270C>G (p.Arg424Gly)
|
rs763826793
|
|
NM_000268.4(NF2):c.1271G>C (p.Arg424Pro)
|
|
|
NM_000268.4(NF2):c.1271G>T (p.Arg424Leu)
|
rs751182657
|
|
NM_000268.4(NF2):c.1276A>G (p.Met426Val)
|
|
|
NM_000268.4(NF2):c.1278G>A (p.Met426Ile)
|
|
|
NM_000268.4(NF2):c.1280A>C (p.Glu427Ala)
|
rs760382219
|
|
NM_000268.4(NF2):c.1280A>G (p.Glu427Gly)
|
|
|
NM_000268.4(NF2):c.1288G>T (p.Val430Leu)
|
rs1361867592
|
|
NM_000268.4(NF2):c.1292T>A (p.Leu431Gln)
|
|
|
NM_000268.4(NF2):c.1295A>G (p.Glu432Gly)
|
|
|
NM_000268.4(NF2):c.1297G>A (p.Ala433Thr)
|
rs1449875899
|
|
NM_000268.4(NF2):c.1298C>T (p.Ala433Val)
|
rs779721863
|
|
NM_000268.4(NF2):c.12_13inv (p.Ile5Val)
|
|
|
NM_000268.4(NF2):c.1301A>G (p.Glu434Gly)
|
rs1601648832
|
|
NM_000268.4(NF2):c.1303G>A (p.Val435Met)
|
rs772334382
|
|
NM_000268.4(NF2):c.130A>G (p.Lys44Glu)
|
rs2146851850
|
|
NM_000268.4(NF2):c.1315A>C (p.Lys439Gln)
|
|
|
NM_000268.4(NF2):c.1318A>T (p.Met440Leu)
|
|
|
NM_000268.4(NF2):c.1320G>A (p.Met440Ile)
|
rs2147083988
|
|
NM_000268.4(NF2):c.1321G>A (p.Ala441Thr)
|
|
|
NM_000268.4(NF2):c.1321G>C (p.Ala441Pro)
|
rs2147084012
|
|
NM_000268.4(NF2):c.1324G>A (p.Glu442Lys)
|
|
|
NM_000268.4(NF2):c.1327G>A (p.Glu443Lys)
|
rs1181051479
|
|
NM_000268.4(NF2):c.1333G>C (p.Glu445Gln)
|
|
|
NM_000268.4(NF2):c.1336A>G (p.Arg446Gly)
|
rs1335612753
|
|
NM_000268.4(NF2):c.1339A>G (p.Arg447Gly)
|
rs2147084234
|
|
NM_000268.4(NF2):c.133G>A (p.Asp45Asn)
|
rs370147621
|
|
NM_000268.4(NF2):c.133G>T (p.Asp45Tyr)
|
|
|
NM_000268.4(NF2):c.1340+5G>A
|
|
|
NM_000268.4(NF2):c.1340+5G>C
|
|
|
NM_000268.4(NF2):c.1340G>T (p.Arg447Met)
|
rs2066868182
|
|
NM_000268.4(NF2):c.1341G>T (p.Arg447Ser)
|
|
|
NM_000268.4(NF2):c.1342G>A (p.Ala448Thr)
|
rs2066911470
|
|
NM_000268.4(NF2):c.1343C>G (p.Ala448Gly)
|
rs2066911555
|
|
NM_000268.4(NF2):c.1343C>T (p.Ala448Val)
|
rs2066911555
|
|
NM_000268.4(NF2):c.1346A>G (p.Lys449Arg)
|
|
|
NM_000268.4(NF2):c.134A>G (p.Asp45Gly)
|
|
|
NM_000268.4(NF2):c.1351G>A (p.Ala451Thr)
|
|
|
NM_000268.4(NF2):c.1354G>A (p.Asp452Asn)
|
|
|
NM_000268.4(NF2):c.1355A>G (p.Asp452Gly)
|
rs2066912094
|
|
NM_000268.4(NF2):c.1357C>G (p.Gln453Glu)
|
rs1556001358
|
|
NM_000268.4(NF2):c.1358A>T (p.Gln453Leu)
|
|
|
NM_000268.4(NF2):c.1364A>C (p.Lys455Thr)
|
|
|
NM_000268.4(NF2):c.1366C>G (p.Gln456Glu)
|
rs867419294
|
|
NM_000268.4(NF2):c.1370A>T (p.Asp457Val)
|
rs2066912673
|
|
NM_000268.4(NF2):c.1371C>A (p.Asp457Glu)
|
rs1220807117
|
|
NM_000268.4(NF2):c.1373T>G (p.Leu458Arg)
|
rs1457638896
|
|
NM_000268.4(NF2):c.1376A>C (p.Gln459Pro)
|
rs2147092623
|
|
NM_000268.4(NF2):c.1379A>G (p.Glu460Gly)
|
|
|
NM_000268.4(NF2):c.1380A>T (p.Glu460Asp)
|
rs2147092701
|
|
NM_000268.4(NF2):c.1382C>A (p.Ala461Glu)
|
|
|
NM_000268.4(NF2):c.1382C>T (p.Ala461Val)
|
|
|
NM_000268.4(NF2):c.1384C>T (p.Arg462Cys)
|
rs771143279
|
|
NM_000268.4(NF2):c.1397G>A (p.Arg466Gln)
|
rs866689896
|
|
NM_000268.4(NF2):c.1397G>T (p.Arg466Leu)
|
rs866689896
|
|
NM_000268.4(NF2):c.1399A>G (p.Arg467Gly)
|
|
|
NM_000268.4(NF2):c.1405A>C (p.Lys469Gln)
|
|
|
NM_000268.4(NF2):c.1406A>C (p.Lys469Thr)
|
|
|
NM_000268.4(NF2):c.140T>C (p.Phe47Ser)
|
rs2146852097
|
|
NM_000268.4(NF2):c.1414C>T (p.Leu472Phe)
|
rs2147093380
|
|
NM_000268.4(NF2):c.1417C>A (p.Leu473Met)
|
rs2147093444
|
|
NM_000268.4(NF2):c.1418T>G (p.Leu473Arg)
|
|
|
NM_000268.4(NF2):c.1421A>G (p.Glu474Gly)
|
|
|
NM_000268.4(NF2):c.1422G>T (p.Glu474Asp)
|
|
|
NM_000268.4(NF2):c.1423A>G (p.Ile475Val)
|
|
|
NM_000268.4(NF2):c.1426G>A (p.Ala476Thr)
|
|
|
NM_000268.4(NF2):c.1430C>T (p.Thr477Ile)
|
|
|
NM_000268.4(NF2):c.1433A>G (p.Lys478Arg)
|
|
|
NM_000268.4(NF2):c.1434G>C (p.Lys478Asn)
|
rs2147093727
|
|
NM_000268.4(NF2):c.1435C>A (p.Pro479Thr)
|
|
|
NM_000268.4(NF2):c.1439C>A (p.Thr480Lys)
|
rs145666157
|
|
NM_000268.4(NF2):c.1446+1396C>G
|
|
|
NM_000268.4(NF2):c.1446+5G>T
|
rs367829184
|
|
NM_000268.4(NF2):c.1446+6C>G
|
rs878853924
|
|
NM_000268.4(NF2):c.1447-147_1447-8del
|
|
|
NM_000268.4(NF2):c.1447-4A>G
|
|
|
NM_000268.4(NF2):c.1447-9C>G
|
rs1485358709
|
|
NM_000268.4(NF2):c.1447C>G (p.Pro483Ala)
|
rs2067022285
|
|
NM_000268.4(NF2):c.1457C>T (p.Pro486Leu)
|
|
|
NM_000268.4(NF2):c.1459A>C (p.Ile487Leu)
|
rs147506929
|
|
NM_000268.4(NF2):c.1459A>T (p.Ile487Phe)
|
|
|
NM_000268.4(NF2):c.145T>A (p.Leu49Met)
|
|
|
NM_000268.4(NF2):c.145T>G (p.Leu49Val)
|
|
|
NM_000268.4(NF2):c.1460T>C (p.Ile487Thr)
|
rs1601658904
|
|
NM_000268.4(NF2):c.1465_1467del (p.Ala489del)
|
rs1601658938
|
|
NM_000268.4(NF2):c.1466C>T (p.Ala489Val)
|
rs1156963577
|
|
NM_000268.4(NF2):c.1468C>T (p.Pro490Ser)
|
rs776076922
|
|
NM_000268.4(NF2):c.146T>C (p.Leu49Ser)
|
rs2146852259
|
|
NM_000268.4(NF2):c.1472T>C (p.Leu491Ser)
|
|
|
NM_000268.4(NF2):c.1475C>G (p.Pro492Arg)
|
|
|
NM_000268.4(NF2):c.1478C>T (p.Pro493Leu)
|
|
|
NM_000268.4(NF2):c.147G>C (p.Leu49Phe)
|
|
|
NM_000268.4(NF2):c.1480G>C (p.Asp494His)
|
rs2067024378
|
|
NM_000268.4(NF2):c.1483A>G (p.Ile495Val)
|
rs1194776777
|
|
NM_000268.4(NF2):c.1484T>G (p.Ile495Arg)
|
rs1556002511
|
|
NM_000268.4(NF2):c.1489A>G (p.Ser497Gly)
|
|
|
NM_000268.4(NF2):c.148G>A (p.Val50Met)
|
|
|
NM_000268.4(NF2):c.1490G>A (p.Ser497Asn)
|
|
|
NM_000268.4(NF2):c.1493_1494delinsCT (p.Phe498Ser)
|
rs2147108238
|
|
NM_000268.4(NF2):c.1496A>C (p.Asn499Thr)
|
rs2147108268
|
|
NM_000268.4(NF2):c.1496A>G (p.Asn499Ser)
|
rs2147108268
|
|
NM_000268.4(NF2):c.1498C>T (p.Leu500Phe)
|
|
|
NM_000268.4(NF2):c.1499T>C (p.Leu500Pro)
|
rs2147108303
|
|
NM_000268.4(NF2):c.1501A>G (p.Ile501Val)
|
rs1315864916
|
|
NM_000268.4(NF2):c.1504G>A (p.Gly502Ser)
|
|
|
NM_000268.4(NF2):c.1504G>T (p.Gly502Cys)
|
|
|
NM_000268.4(NF2):c.1507G>A (p.Asp503Asn)
|
|
|
NM_000268.4(NF2):c.150G>A (p.Val50=)
|
rs1601578932
|
|
NM_000268.4(NF2):c.1511G>A (p.Ser504Asn)
|
rs756366940
|
|
NM_000268.4(NF2):c.1516T>A (p.Ser506Thr)
|
|
|
NM_000268.4(NF2):c.1517C>G (p.Ser506Cys)
|
rs970051210
|
|
NM_000268.4(NF2):c.1521C>A (p.Phe507Leu)
|
|
|
NM_000268.4(NF2):c.1522G>C (p.Asp508His)
|
|
|
NM_000268.4(NF2):c.1522G>T (p.Asp508Tyr)
|
rs749326764
|
|
NM_000268.4(NF2):c.1529A>T (p.Lys510Ile)
|
|
|
NM_000268.4(NF2):c.152G>T (p.Cys51Phe)
|
|
|
NM_000268.4(NF2):c.1535C>T (p.Thr512Ile)
|
|
|
NM_000268.4(NF2):c.1540A>C (p.Met514Leu)
|
rs201527155
|
|
NM_000268.4(NF2):c.1544A>G (p.Lys515Arg)
|
rs2067027566
|
|
NM_000268.4(NF2):c.1546C>T (p.Arg516Trp)
|
rs762588182
|
|
NM_000268.4(NF2):c.1547G>A (p.Arg516Gln)
|
rs1569309694
|
|
NM_000268.4(NF2):c.1550T>A (p.Leu517His)
|
rs1556002568
|
|
NM_000268.4(NF2):c.1550T>C (p.Leu517Pro)
|
rs1556002568
|
|
NM_000268.4(NF2):c.1555A>G (p.Met519Val)
|
|
|
NM_000268.4(NF2):c.1556T>C (p.Met519Thr)
|
rs2147108867
|
|
NM_000268.4(NF2):c.1557G>A (p.Met519Ile)
|
rs1601659358
|
|
NM_000268.4(NF2):c.1558G>A (p.Glu520Lys)
|
|
|
NM_000268.4(NF2):c.155G>A (p.Arg52Gln)
|
|
|
NM_000268.4(NF2):c.1562T>C (p.Ile521Thr)
|
|
|
NM_000268.4(NF2):c.1562T>G (p.Ile521Arg)
|
|
|
NM_000268.4(NF2):c.1563A>G (p.Ile521Met)
|
rs2147108932
|
|
NM_000268.4(NF2):c.1565A>T (p.Glu522Val)
|
|
|
NM_000268.4(NF2):c.1566G>T (p.Glu522Asp)
|
|
|
NM_000268.4(NF2):c.1567A>G (p.Lys523Glu)
|
rs2067028599
|
|
NM_000268.4(NF2):c.1570G>C (p.Glu524Gln)
|
rs2147108990
|
|
NM_000268.4(NF2):c.1574+4T>C
|
rs1556002586
|
|
NM_000268.4(NF2):c.1574+4T>G
|
|
|
NM_000268.4(NF2):c.1574A>G (p.Lys525Arg)
|
|
|
NM_000268.4(NF2):c.1575-12T>G
|
|
|
NM_000268.4(NF2):c.1575-24T>A
|
|
|
NM_000268.4(NF2):c.1575A>C (p.Lys525Asn)
|
rs1060503673
|
|
NM_000268.4(NF2):c.1575A>G (p.Lys525=)
|
rs1060503673
|
|
NM_000268.4(NF2):c.1576G>A (p.Val526Met)
|
|
|
NM_000268.4(NF2):c.1577T>C (p.Val526Ala)
|
|
|
NM_000268.4(NF2):c.1579G>A (p.Glu527Lys)
|
|
|
NM_000268.4(NF2):c.157A>G (p.Thr53Ala)
|
rs1601578990
|
|
NM_000268.4(NF2):c.1580A>T (p.Glu527Val)
|
|
|
NM_000268.4(NF2):c.1585A>G (p.Met529Val)
|
rs1456599218
|
|
NM_000268.4(NF2):c.1593G>C (p.Lys531Asn)
|
|
|
NM_000268.4(NF2):c.1595G>A (p.Ser532Asn)
|
rs2147122432
|
|
NM_000268.4(NF2):c.15C>G (p.Ile5Met)
|
rs998779035
|
|
NM_000268.4(NF2):c.1600C>T (p.His534Tyr)
|
rs769370159
|
|
NM_000268.4(NF2):c.1601A>G (p.His534Arg)
|
rs2147122511
|
|
NM_000268.4(NF2):c.1608G>C (p.Gln536His)
|
|
|
NM_000268.4(NF2):c.1609G>A (p.Glu537Lys)
|
|
|
NM_000268.4(NF2):c.1609G>C (p.Glu537Gln)
|
|
|
NM_000268.4(NF2):c.1609_1614del (p.Glu537_Gln538del)
|
rs2147122568
|
|
NM_000268.4(NF2):c.1610A>C (p.Glu537Ala)
|
rs2147122594
|
|
NM_000268.4(NF2):c.1611G>T (p.Glu537Asp)
|
rs946609084
|
|
NM_000268.4(NF2):c.1615C>G (p.Leu539Val)
|
|
|
NM_000268.4(NF2):c.1615C>T (p.Leu539Phe)
|
|
|
NM_000268.4(NF2):c.1616T>C (p.Leu539Pro)
|
rs2147122672
|
|
NM_000268.4(NF2):c.1618A>G (p.Asn540Asp)
|
|
|
NM_000268.4(NF2):c.161T>G (p.Leu54Arg)
|
|
|
NM_000268.4(NF2):c.1623A>C (p.Glu541Asp)
|
|
|
NM_000268.4(NF2):c.1624C>T (p.Leu542Phe)
|
|
|
NM_000268.4(NF2):c.1625T>A (p.Leu542His)
|
|
|
NM_000268.4(NF2):c.1630A>C (p.Thr544Pro)
|
|
|
NM_000268.4(NF2):c.1630A>G (p.Thr544Ala)
|
rs762953921
|
|
NM_000268.4(NF2):c.1633G>A (p.Glu545Lys)
|
|
|
NM_000268.4(NF2):c.1633G>C (p.Glu545Gln)
|
|
|
NM_000268.4(NF2):c.1635A>T (p.Glu545Asp)
|
rs1556003698
|
|
NM_000268.4(NF2):c.1642G>A (p.Ala548Thr)
|
|
|
NM_000268.4(NF2):c.1643C>T (p.Ala548Val)
|
|
|
NM_000268.4(NF2):c.1650A>T (p.Lys550Asn)
|
|
|
NM_000268.4(NF2):c.1652_1655del (p.Leu551fs)
|
|
|
NM_000268.4(NF2):c.1655A>G (p.Lys552Arg)
|
|
|
NM_000268.4(NF2):c.1658A>C (p.Glu553Ala)
|
|
|
NM_000268.4(NF2):c.1658A>G (p.Glu553Gly)
|
rs2147123000
|
|
NM_000268.4(NF2):c.1660A>G (p.Arg554Gly)
|
rs1601666203
|
|
NM_000268.4(NF2):c.1660A>T (p.Arg554Trp)
|
rs1601666203
|
|
NM_000268.4(NF2):c.1661G>A (p.Arg554Lys)
|
rs2067134618
|
|
NM_000268.4(NF2):c.1661G>C (p.Arg554Thr)
|
|
|
NM_000268.4(NF2):c.1663G>A (p.Glu555Lys)
|
|
|
NM_000268.4(NF2):c.1663G>C (p.Glu555Gln)
|
|
|
NM_000268.4(NF2):c.1666A>G (p.Thr556Ala)
|
|
|
NM_000268.4(NF2):c.1667C>T (p.Thr556Ile)
|
|
|
NM_000268.4(NF2):c.1669G>A (p.Ala557Thr)
|
|
|
NM_000268.4(NF2):c.1670C>A (p.Ala557Asp)
|
|
|
NM_000268.4(NF2):c.1670C>G (p.Ala557Gly)
|
|
|
NM_000268.4(NF2):c.1672C>G (p.Leu558Val)
|
|
|
NM_000268.4(NF2):c.1676A>G (p.Asp559Gly)
|
|
|
NM_000268.4(NF2):c.1676A>T (p.Asp559Val)
|
|
|
NM_000268.4(NF2):c.1676del (p.Asp559fs)
|
|
|
NM_000268.4(NF2):c.1678A>T (p.Ile560Phe)
|
rs557347747
|
|
NM_000268.4(NF2):c.167T>G (p.Leu56Arg)
|
rs2146852896
|
|
NM_000268.4(NF2):c.1684C>A (p.His562Asn)
|
|
|
NM_000268.4(NF2):c.1684C>T (p.His562Tyr)
|
|
|
NM_000268.4(NF2):c.1685A>G (p.His562Arg)
|
rs878853926
|
|
NM_000268.4(NF2):c.1685A>T (p.His562Leu)
|
rs878853926
|
|
NM_000268.4(NF2):c.1687A>G (p.Asn563Asp)
|
|
|
NM_000268.4(NF2):c.1690G>A (p.Glu564Lys)
|
|
|
NM_000268.4(NF2):c.1693A>T (p.Asn565Tyr)
|
rs1601666359
|
|
NM_000268.4(NF2):c.1696T>C (p.Ser566Pro)
|
|
|
NM_000268.4(NF2):c.16G>A (p.Ala6Thr)
|
|
|
NM_000268.4(NF2):c.16G>C (p.Ala6Pro)
|
rs1601515753
|
|
NM_000268.4(NF2):c.16_17delinsTT (p.Ala6Phe)
|
|
|
NM_000268.4(NF2):c.1702A>G (p.Arg568Gly)
|
rs1318481716
|
|
NM_000268.4(NF2):c.1703G>T (p.Arg568Met)
|
|
|
NM_000268.4(NF2):c.1704G>T (p.Arg568Ser)
|
|
|
NM_000268.4(NF2):c.1705G>A (p.Gly569Ser)
|
|
|
NM_000268.4(NF2):c.1706G>T (p.Gly569Val)
|
rs781488145
|
|
NM_000268.4(NF2):c.1708G>A (p.Gly570Ser)
|
rs2147123415
|
|
NM_000268.4(NF2):c.1711A>G (p.Ser571Gly)
|
|
|
NM_000268.4(NF2):c.1712G>A (p.Ser571Asn)
|
rs2067137196
|
|
NM_000268.4(NF2):c.1714A>C (p.Ser572Arg)
|
rs1379683835
|
|
NM_000268.4(NF2):c.1714A>G (p.Ser572Gly)
|
rs1379683835
|
|
NM_000268.4(NF2):c.1718A>G (p.Lys573Arg)
|
|
|
NM_000268.4(NF2):c.1720C>A (p.His574Asn)
|
|
|
NM_000268.4(NF2):c.1720C>T (p.His574Tyr)
|
rs867707782
|
|
NM_000268.4(NF2):c.1721A>C (p.His574Pro)
|
rs1601666509
|
|
NM_000268.4(NF2):c.1721A>G (p.His574Arg)
|
rs1601666509
|
|
NM_000268.4(NF2):c.1722C>G (p.His574Gln)
|
|
|
NM_000268.4(NF2):c.1724A>G (p.Asn575Ser)
|
rs1569312127
|
|
NM_000268.4(NF2):c.1726A>T (p.Thr576Ser)
|
rs1601666549
|
|
NM_000268.4(NF2):c.1732A>G (p.Lys578Glu)
|
rs2147123687
|
|
NM_000268.4(NF2):c.1733A>G (p.Lys578Arg)
|
rs2067138210
|
|
NM_000268.4(NF2):c.1735A>C (p.Lys579Gln)
|
rs2067138432
|
|
NM_000268.4(NF2):c.1735A>G (p.Lys579Glu)
|
|
|
NM_000268.4(NF2):c.1737+1406T>A
|
|
|
NM_000268.4(NF2):c.1737+1414T>G
|
|
|
NM_000268.4(NF2):c.1737+1419C>T
|
|
|
NM_000268.4(NF2):c.1737+1420C>T
|
rs2147129677
|
|
NM_000268.4(NF2):c.1737+1444T>C
|
|
|
NM_000268.4(NF2):c.1737+5C>T
|
rs1217457776
|
|
NM_000268.4(NF2):c.1737G>A (p.Lys579=)
|
rs1569312133
|
|
NM_000268.4(NF2):c.1737_1737+1dup
|
|
|
NM_000268.4(NF2):c.1738-3C>A
|
rs2147171627
|
|
NM_000268.4(NF2):c.1738-3C>G
|
|
|
NM_000268.4(NF2):c.1738-4_1741delinsG
|
rs1556008383
|
|
NM_000268.4(NF2):c.1738-5_1738-2dup
|
|
|
NM_000268.4(NF2):c.1739_1747del (p.Leu580_Leu582del)
|
rs1060503674
|
|
NM_000268.4(NF2):c.1741A>C (p.Thr581Pro)
|
rs1601688849
|
|
NM_000268.4(NF2):c.1745T>C (p.Leu582Ser)
|
rs2067498896
|
|
NM_000268.4(NF2):c.174A>C (p.Glu58Asp)
|
|
|
NM_000268.4(NF2):c.1753G>T (p.Ala585Ser)
|
rs145446060
|
|
NM_000268.4(NF2):c.1756_1770del (p.Lys586_Ala590del)
|
|
|
NM_000268.4(NF2):c.1758G>C (p.Lys586Asn)
|
|
|
NM_000268.4(NF2):c.1762C>T (p.Arg588Ter)
|
rs1341371726
|
|
NM_000268.4(NF2):c.1762dup (p.Arg588fs)
|
|
|
NM_000268.4(NF2):c.1764del (p.Val589fs)
|
|
|
NM_000268.4(NF2):c.1766T>A (p.Val589Glu)
|
|
|
NM_000268.4(NF2):c.1768_1769delinsAT (p.Ala590Ile)
|
rs2147171876
|
|
NM_000268.4(NF2):c.1769C>G (p.Ala590Gly)
|
|
|
NM_000268.4(NF2):c.1769C>T (p.Ala590Val)
|
rs1246154574
|
|
NM_000268.4(NF2):c.1770CTT[1] (p.Phe592del)
|
rs2067500115
|
|
NM_000268.4(NF2):c.1772T>A (p.Phe591Tyr)
|
|
|
NM_000268.4(NF2):c.1773C>A (p.Phe591Leu)
|
|
|
NM_000268.4(NF2):c.1780G>A (p.Glu594Lys)
|
|
|
NM_000268.4(NF2):c.1783C>T (p.Leu595Phe)
|
rs1601689027
|
|
NM_000268.4(NF2):c.1784T>C (p.Leu595Pro)
|
rs2147172014
|
|
NM_000268.4(NF2):c.1786T>C (p.Ter596Gln)
|
rs1569319775
|
|
NM_000268.4(NF2):c.178T>C (p.Trp60Arg)
|
|
|
NM_000268.4(NF2):c.179G>C (p.Trp60Ser)
|
|
|
NM_000268.4(NF2):c.17C>A (p.Ala6Asp)
|
rs2064713500
|
|
NM_000268.4(NF2):c.185T>C (p.Phe62Ser)
|
rs121434261
|
|
NM_000268.4(NF2):c.185T>G (p.Phe62Cys)
|
|
|
NM_000268.4(NF2):c.190C>A (p.Leu64Met)
|
|
|
NM_000268.4(NF2):c.191T>C (p.Leu64Pro)
|
rs2065661430
|
|
NM_000268.4(NF2):c.194A>G (p.Gln65Arg)
|
|
|
NM_000268.4(NF2):c.1A>G (p.Met1Val)
|
rs1319282473
|
|
NM_000268.4(NF2):c.200C>A (p.Thr67Lys)
|
|
|
NM_000268.4(NF2):c.200C>T (p.Thr67Ile)
|
rs2146853974
|
|
NM_000268.4(NF2):c.202A>G (p.Ile68Val)
|
|
|
NM_000268.4(NF2):c.208G>C (p.Asp70His)
|
rs559558673
|
|
NM_000268.4(NF2):c.20C>T (p.Ser7Phe)
|
rs2146659687
|
|
NM_000268.4(NF2):c.211A>G (p.Thr71Ala)
|
|
|
NM_000268.4(NF2):c.215T>C (p.Val72Ala)
|
rs1260510937
|
|
NM_000268.4(NF2):c.217G>A (p.Ala73Thr)
|
|
|
NM_000268.4(NF2):c.222G>T (p.Trp74Cys)
|
rs2065663095
|
|
NM_000268.4(NF2):c.223C>A (p.Leu75Ile)
|
rs2146854583
|
|
NM_000268.4(NF2):c.22C>G (p.Arg8Gly)
|
|
|
NM_000268.4(NF2):c.22C>T (p.Arg8Cys)
|
rs868416935
|
|
NM_000268.4(NF2):c.22_23delinsAA (p.Arg8Asn)
|
|
|
NM_000268.4(NF2):c.230T>C (p.Met77Thr)
|
|
|
NM_000268.4(NF2):c.231G>A (p.Met77Ile)
|
|
|
NM_000268.4(NF2):c.231G>T (p.Met77Ile)
|
|
|
NM_000268.4(NF2):c.235A>G (p.Lys79Glu)
|
|
|
NM_000268.4(NF2):c.23G>A (p.Arg8His)
|
|
|
NM_000268.4(NF2):c.23G>C (p.Arg8Pro)
|
rs775564806
|
|
NM_000268.4(NF2):c.23G>T (p.Arg8Leu)
|
rs775564806
|
|
NM_000268.4(NF2):c.240+20A>T
|
|
|
NM_000268.4(NF2):c.240+5G>A
|
|
|
NM_000268.4(NF2):c.240+5_240+6del
|
|
|
NM_000268.4(NF2):c.240+6G>A
|
rs771417406
|
|
NM_000268.4(NF2):c.240G>A (p.Lys80=)
|
rs1555986950
|
|
NM_000268.4(NF2):c.241G>A (p.Val81Ile)
|
|
|
NM_000268.4(NF2):c.245T>C (p.Leu82Pro)
|
rs2065727847
|
|
NM_000268.4(NF2):c.247G>C (p.Asp83His)
|
|
|
NM_000268.4(NF2):c.250C>T (p.His84Tyr)
|
|
|
NM_000268.4(NF2):c.252T>A (p.His84Gln)
|
|
|
NM_000268.4(NF2):c.253G>C (p.Asp85His)
|
rs2065728465
|
|
NM_000268.4(NF2):c.25A>G (p.Met9Val)
|
rs1249717688
|
|
NM_000268.4(NF2):c.263A>G (p.Lys88Arg)
|
rs547255779
|
|
NM_000268.4(NF2):c.269A>G (p.Glu90Gly)
|
|
|
NM_000268.4(NF2):c.26T>C (p.Met9Thr)
|
|
|
NM_000268.4(NF2):c.271C>A (p.Pro91Thr)
|
rs1555987645
|
|
NM_000268.4(NF2):c.272C>A (p.Pro91Gln)
|
rs1569281659
|
|
NM_000268.4(NF2):c.272C>G (p.Pro91Arg)
|
rs1569281659
|
|
NM_000268.4(NF2):c.275T>C (p.Val92Ala)
|
|
|
NM_000268.4(NF2):c.281T>G (p.Phe94Cys)
|
rs1601583588
|
|
NM_000268.4(NF2):c.285CTT[1] (p.Phe96del)
|
rs121434260
|
|
NM_000268.4(NF2):c.287T>C (p.Phe96Ser)
|
rs2146870955
|
|
NM_000268.4(NF2):c.291G>C (p.Leu97Phe)
|
|
|
NM_000268.4(NF2):c.291G>T (p.Leu97Phe)
|
rs2146871037
|
|
NM_000268.4(NF2):c.293C>A (p.Ala98Asp)
|
rs1060503668
|
|
NM_000268.4(NF2):c.2T>C (p.Met1Thr)
|
rs1555978325
|
|
NM_000268.4(NF2):c.300T>A (p.Phe100Leu)
|
rs1555987677
|
|
NM_000268.4(NF2):c.302A>T (p.Tyr101Phe)
|
rs1240469044
|
|
NM_000268.4(NF2):c.305C>G (p.Pro102Arg)
|
rs1601583679
|
|
NM_000268.4(NF2):c.310A>G (p.Asn104Asp)
|
|
|
NM_000268.4(NF2):c.311A>C (p.Asn104Thr)
|
rs2065731005
|
|
NM_000268.4(NF2):c.320A>G (p.Glu107Gly)
|
|
|
NM_000268.4(NF2):c.326T>C (p.Leu109Pro)
|
rs1601583740
|
|
NM_000268.4(NF2):c.328G>A (p.Val110Ile)
|
|
|
NM_000268.4(NF2):c.328G>C (p.Val110Leu)
|
rs1601583759
|
|
NM_000268.4(NF2):c.32T>G (p.Phe11Cys)
|
rs2064714417
|
|
NM_000268.4(NF2):c.332A>C (p.Gln111Pro)
|
rs2065732351
|
|
NM_000268.4(NF2):c.336G>T (p.Glu112Asp)
|
|
|
NM_000268.4(NF2):c.337A>C (p.Ile113Leu)
|
rs1328289194
|
|
NM_000268.4(NF2):c.337A>T (p.Ile113Phe)
|
|
|
NM_000268.4(NF2):c.340A>T (p.Thr114Ser)
|
|
|
NM_000268.4(NF2):c.342ACA[1] (p.Gln115del)
|
rs1601583772
|
|
NM_000268.4(NF2):c.343C>A (p.Gln115Lys)
|
rs1350618734
|
|
NM_000268.4(NF2):c.345A>T (p.Gln115His)
|
rs746369012
|
|
NM_000268.4(NF2):c.346C>T (p.His116Tyr)
|
|
|
NM_000268.4(NF2):c.349T>G (p.Leu117Val)
|
rs1569281810
|
|
NM_000268.4(NF2):c.352T>G (p.Phe118Val)
|
rs2065733287
|
|
NM_000268.4(NF2):c.359T>C (p.Leu120Ser)
|
|
|
NM_000268.4(NF2):c.35G>C (p.Ser12Thr)
|
|
|
NM_000268.4(NF2):c.361C>A (p.Gln121Lys)
|
|
|
NM_000268.4(NF2):c.361C>G (p.Gln121Glu)
|
rs1006294051
|
|
NM_000268.4(NF2):c.362A>G (p.Gln121Arg)
|
rs2146873198
|
|
NM_000268.4(NF2):c.363+3A>C
|
rs1060503669
|
|
NM_000268.4(NF2):c.363+3A>T
|
rs1060503669
|
|
NM_000268.4(NF2):c.364-1121C>T
|
rs1181058121
|
|
NM_000268.4(NF2):c.364-3C>T
|
rs2065829595
|
|
NM_000268.4(NF2):c.364-5T>A
|
rs1330676517
|
|
NM_000268.4(NF2):c.365T>A (p.Val122Glu)
|
|
|
NM_000268.4(NF2):c.365T>C (p.Val122Ala)
|
|
|
NM_000268.4(NF2):c.367AAG[1] (p.Lys124del)
|
|
|
NM_000268.4(NF2):c.368A>G (p.Lys123Arg)
|
rs139779327
|
|
NM_000268.4(NF2):c.36C>T (p.Ser12=)
|
rs371800843
|
|
NM_000268.4(NF2):c.370A>C (p.Lys124Gln)
|
rs1601589425
|
|
NM_000268.4(NF2):c.372G>T (p.Lys124Asn)
|
rs1270877164
|
|
NM_000268.4(NF2):c.375G>C (p.Gln125His)
|
rs2065829948
|
|
NM_000268.4(NF2):c.375G>T (p.Gln125His)
|
rs2065829948
|
|
NM_000268.4(NF2):c.375_377del (p.Gln125_Ile126delinsHis)
|
rs2146892973
|
|
NM_000268.4(NF2):c.376A>G (p.Ile126Val)
|
rs780483061
|
|
NM_000268.4(NF2):c.383A>G (p.Asp128Gly)
|
|
|
NM_000268.4(NF2):c.389A>G (p.Lys130Arg)
|
rs2146893244
|
|
NM_000268.4(NF2):c.390G>T (p.Lys130Asn)
|
|
|
NM_000268.4(NF2):c.391A>C (p.Ile131Leu)
|
rs878853927
|
|
NM_000268.4(NF2):c.392T>C (p.Ile131Thr)
|
|
|
NM_000268.4(NF2):c.392T>G (p.Ile131Ser)
|
|
|
NM_000268.4(NF2):c.395A>G (p.Tyr132Cys)
|
|
|
NM_000268.4(NF2):c.3G>A (p.Met1Ile)
|
|
|
NM_000268.4(NF2):c.3_14del (p.Met1_Ala4del)
|
rs1351718417
|
|
NM_000268.4(NF2):c.400C>T (p.Pro134Ser)
|
rs1555988776
|
|
NM_000268.4(NF2):c.401C>T (p.Pro134Leu)
|
rs1029716358
|
|
NM_000268.4(NF2):c.403C>T (p.Pro135Ser)
|
|
|
NM_000268.4(NF2):c.410C>A (p.Ala137Asp)
|
|
|
NM_000268.4(NF2):c.41T>C (p.Leu14Pro)
|
|
|
NM_000268.4(NF2):c.424G>T (p.Ala142Ser)
|
|
|
NM_000268.4(NF2):c.425C>A (p.Ala142Asp)
|
|
|
NM_000268.4(NF2):c.433G>A (p.Ala145Thr)
|
rs1185977513
|
|
NM_000268.4(NF2):c.437T>C (p.Val146Ala)
|
|
|
NM_000268.4(NF2):c.43A>C (p.Lys15Gln)
|
|
|
NM_000268.4(NF2):c.43A>G (p.Lys15Glu)
|
|
|
NM_000268.4(NF2):c.440A>C (p.Gln147Pro)
|
rs2065831928
|
|
NM_000268.4(NF2):c.440A>T (p.Gln147Leu)
|
|
|
NM_000268.4(NF2):c.445A>G (p.Lys149Glu)
|
|
|
NM_000268.4(NF2):c.447+166T>G
|
|
|
NM_000268.4(NF2):c.447+3A>G
|
|
|
NM_000268.4(NF2):c.447+4G>A
|
|
|
NM_000268.4(NF2):c.447G>T (p.Lys149Asn)
|
|
|
NM_000268.4(NF2):c.448-5T>C
|
rs878853928
|
|
NM_000268.4(NF2):c.454G>A (p.Asp152Asn)
|
|
|
NM_000268.4(NF2):c.458A>G (p.Tyr153Cys)
|
rs2146966434
|
|
NM_000268.4(NF2):c.460G>A (p.Asp154Asn)
|
|
|
NM_000268.4(NF2):c.462C>A (p.Asp154Glu)
|
|
|
NM_000268.4(NF2):c.463C>G (p.Pro155Ala)
|
rs2066246942
|
|
NM_000268.4(NF2):c.464C>T (p.Pro155Leu)
|
rs2146966580
|
|
NM_000268.4(NF2):c.467G>A (p.Ser156Asn)
|
rs2146966627
|
|
NM_000268.4(NF2):c.469G>C (p.Val157Leu)
|
|
|
NM_000268.4(NF2):c.472C>T (p.His158Tyr)
|
|
|
NM_000268.4(NF2):c.473A>G (p.His158Arg)
|
rs2066247273
|
|
NM_000268.4(NF2):c.475_476inv (p.Lys159Leu)
|
|
|
NM_000268.4(NF2):c.476A>G (p.Lys159Arg)
|
|
|
NM_000268.4(NF2):c.477G>C (p.Lys159Asn)
|
|
|
NM_000268.4(NF2):c.477G>T (p.Lys159Asn)
|
|
|
NM_000268.4(NF2):c.479G>A (p.Arg160Gln)
|
rs867595517
|
|
NM_000268.4(NF2):c.479G>T (p.Arg160Leu)
|
rs867595517
|
|
NM_000268.4(NF2):c.482G>A (p.Gly161Glu)
|
rs2146966915
|
|
NM_000268.4(NF2):c.484T>C (p.Phe162Leu)
|
rs1085307593
|
|
NM_000268.4(NF2):c.494A>C (p.Gln165Pro)
|
rs2146967118
|
|
NM_000268.4(NF2):c.496_497delinsAC (p.Glu166Thr)
|
rs2146967188
|
|
NM_000268.4(NF2):c.497A>T (p.Glu166Val)
|
rs779353677
|
|
NM_000268.4(NF2):c.499G>C (p.Glu167Gln)
|
rs2066248439
|
|
NM_000268.4(NF2):c.49A>C (p.Lys17Gln)
|
rs1006592023
|
|
NM_000268.4(NF2):c.49A>G (p.Lys17Glu)
|
|
|
NM_000268.4(NF2):c.4G>T (p.Ala2Ser)
|
rs1601515682
|
|
NM_000268.4(NF2):c.504G>C (p.Leu168Phe)
|
rs182990439
|
|
NM_000268.4(NF2):c.505C>T (p.Leu169Phe)
|
|
|
NM_000268.4(NF2):c.506T>C (p.Leu169Pro)
|
rs2066248635
|
|
NM_000268.4(NF2):c.509C>T (p.Pro170Leu)
|
|
|
NM_000268.4(NF2):c.50A>G (p.Lys17Arg)
|
rs2064714998
|
|
NM_000268.4(NF2):c.511A>G (p.Lys171Glu)
|
|
|
NM_000268.4(NF2):c.515G>T (p.Arg172Met)
|
|
|
NM_000268.4(NF2):c.516G>A (p.Arg172=)
|
rs1437469963
|
|
NM_000268.4(NF2):c.516G>C (p.Arg172Ser)
|
|
|
NM_000268.4(NF2):c.516G>T (p.Arg172Ser)
|
|
|
NM_000268.4(NF2):c.517-5G>A
|
rs2146971836
|
|
NM_000268.4(NF2):c.517G>A (p.Val173Ile)
|
rs2146971884
|
|
NM_000268.4(NF2):c.518TAA[1] (p.Ile174del)
|
|
|
NM_000268.4(NF2):c.522A>G (p.Ile174Met)
|
rs2146971946
|
|
NM_000268.4(NF2):c.524A>G (p.Asn175Ser)
|
rs2066278699
|
|
NM_000268.4(NF2):c.525T>A (p.Asn175Lys)
|
rs1601613495
|
|
NM_000268.4(NF2):c.535A>G (p.Met179Val)
|
rs1601613523
|
|
NM_000268.4(NF2):c.537G>A (p.Met179Ile)
|
|
|
NM_000268.4(NF2):c.541C>G (p.Pro181Ala)
|
|
|
NM_000268.4(NF2):c.545A>G (p.Glu182Gly)
|
rs2066279652
|
|
NM_000268.4(NF2):c.547A>T (p.Met183Leu)
|
|
|
NM_000268.4(NF2):c.558G>C (p.Glu186Asp)
|
rs1325902176
|
|
NM_000268.4(NF2):c.55C>T (p.Pro19Ser)
|
rs1477242482
|
|
NM_000268.4(NF2):c.560G>A (p.Arg187Lys)
|
rs1234052589
|
|
NM_000268.4(NF2):c.560G>T (p.Arg187Ile)
|
|
|
NM_000268.4(NF2):c.566C>G (p.Thr189Ser)
|
rs2066280562
|
|
NM_000268.4(NF2):c.566C>T (p.Thr189Ile)
|
rs2066280562
|
|
NM_000268.4(NF2):c.568G>C (p.Ala190Pro)
|
rs2146972966
|
|
NM_000268.4(NF2):c.569C>G (p.Ala190Gly)
|
|
|
NM_000268.4(NF2):c.56C>G (p.Pro19Arg)
|
rs1601515928
|
|
NM_000268.4(NF2):c.574T>A (p.Tyr192Asn)
|
|
|
NM_000268.4(NF2):c.578C>G (p.Ala193Gly)
|
|
|
NM_000268.4(NF2):c.578C>T (p.Ala193Val)
|
|
|
NM_000268.4(NF2):c.581A>G (p.Glu194Gly)
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|
|
NM_000268.4(NF2):c.582G>C (p.Glu194Asp)
|
|
|
NM_000268.4(NF2):c.583C>T (p.His195Tyr)
|
|
|
NM_000268.4(NF2):c.586C>G (p.Arg196Gly)
|
rs1555993336
|
|
NM_000268.4(NF2):c.587G>A (p.Arg196Gln)
|
rs749176138
|
|
NM_000268.4(NF2):c.58A>C (p.Lys20Gln)
|
rs2064715459
|
|
NM_000268.4(NF2):c.590G>A (p.Gly197Asp)
|
|
|
NM_000268.4(NF2):c.590G>T (p.Gly197Val)
|
|
|
NM_000268.4(NF2):c.593G>A (p.Arg198Gln)
|
rs2146973900
|
|
NM_000268.4(NF2):c.593G>C (p.Arg198Pro)
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|
|
NM_000268.4(NF2):c.599+20G>A
|
|
|
NM_000268.4(NF2):c.599+5G>A
|
rs1601613749
|
|
NM_000268.4(NF2):c.599+6G>T
|
rs773469094
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|
NM_000268.4(NF2):c.599G>A (p.Arg200Lys)
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|
|
NM_000268.4(NF2):c.59A>C (p.Lys20Thr)
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|
|
NM_000268.4(NF2):c.601G>A (p.Asp201Asn)
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|
|
NM_000268.4(NF2):c.601G>T (p.Asp201Tyr)
|
rs2066370972
|
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NM_000268.4(NF2):c.602A>G (p.Asp201Gly)
|
rs1601618525
|
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NM_000268.4(NF2):c.602A>T (p.Asp201Val)
|
rs1601618525
|
|
NM_000268.4(NF2):c.607G>A (p.Ala203Thr)
|
rs2146989272
|
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NM_000268.4(NF2):c.610G>C (p.Glu204Gln)
|
rs1569295916
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|
NM_000268.4(NF2):c.611A>C (p.Glu204Ala)
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|
|
NM_000268.4(NF2):c.619T>C (p.Tyr207His)
|
rs1601618565
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NM_000268.4(NF2):c.61A>G (p.Thr21Ala)
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|
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NM_000268.4(NF2):c.620A>G (p.Tyr207Cys)
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NM_000268.4(NF2):c.625A>G (p.Lys209Glu)
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NM_000268.4(NF2):c.630A>G (p.Ile210Met)
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NM_000268.4(NF2):c.638A>G (p.Asp213Gly)
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|
|
NM_000268.4(NF2):c.641T>A (p.Leu214Gln)
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|
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NM_000268.4(NF2):c.641T>C (p.Leu214Pro)
|
rs1601618585
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NM_000268.4(NF2):c.644A>C (p.Glu215Ala)
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|
|
NM_000268.4(NF2):c.647T>C (p.Met216Thr)
|
rs2066372172
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NM_000268.4(NF2):c.652G>T (p.Gly218Cys)
|
rs776818377
|
|
NM_000268.4(NF2):c.655G>T (p.Val219Leu)
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|
|
NM_000268.4(NF2):c.660C>G (p.Asn220Lys)
|
rs2146990712
|
|
NM_000268.4(NF2):c.660C>T (p.Asn220=)
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|
|
NM_000268.4(NF2):c.664T>C (p.Phe222Leu)
|
|
|
NM_000268.4(NF2):c.668C>T (p.Ala223Val)
|
|
|
NM_000268.4(NF2):c.670A>G (p.Ile224Val)
|
rs1555994825
|
|
NM_000268.4(NF2):c.672C>G (p.Ile224Met)
|
|
|
NM_000268.4(NF2):c.674G>C (p.Arg225Pro)
|
|
|
NM_000268.4(NF2):c.675+172G>T
|
|
|
NM_000268.4(NF2):c.675+182A>G
|
|
|
NM_000268.4(NF2):c.675+3_675+6del
|
|
|
NM_000268.4(NF2):c.675+5G>A
|
|
|
NM_000268.4(NF2):c.675G>C (p.Arg225=)
|
|
|
NM_000268.4(NF2):c.675G>T (p.Arg225=)
|
rs1569295986
|
|
NM_000268.4(NF2):c.676-10G>A
|
rs1601623842
|
|
NM_000268.4(NF2):c.676-7T>G
|
|
|
NM_000268.4(NF2):c.676A>C (p.Asn226His)
|
rs886057336
|
|
NM_000268.4(NF2):c.678T>A (p.Asn226Lys)
|
|
|
NM_000268.4(NF2):c.67A>C (p.Thr23Pro)
|
rs2064715937
|
|
NM_000268.4(NF2):c.67A>G (p.Thr23Ala)
|
|
|
NM_000268.4(NF2):c.685G>A (p.Gly229Ser)
|
|
|
NM_000268.4(NF2):c.686G>T (p.Gly229Val)
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|
|
NM_000268.4(NF2):c.687C>T (p.Gly229=)
|
rs1339795250
|
|
NM_000268.4(NF2):c.691G>C (p.Glu231Gln)
|
rs770019352
|
|
NM_000268.4(NF2):c.698T>C (p.Leu233Pro)
|
|
|
NM_000268.4(NF2):c.69C>G (p.Thr23=)
|
rs2064716137
|
|
NM_000268.4(NF2):c.709G>C (p.Asp237His)
|
rs2066467805
|
|
NM_000268.4(NF2):c.712G>T (p.Ala238Ser)
|
|
|
NM_000268.4(NF2):c.716T>C (p.Leu239Pro)
|
|
|
NM_000268.4(NF2):c.719G>A (p.Gly240Glu)
|
|
|
NM_000268.4(NF2):c.721C>A (p.Leu241Ile)
|
|
|
NM_000268.4(NF2):c.726C>G (p.His242Gln)
|
rs1480040681
|
|
NM_000268.4(NF2):c.727A>G (p.Ile243Val)
|
|
|
NM_000268.4(NF2):c.728_745del (p.Ile243_Asn248del)
|
|
|
NM_000268.4(NF2):c.730T>C (p.Tyr244His)
|
|
|
NM_000268.4(NF2):c.731A>G (p.Tyr244Cys)
|
rs2066468739
|
|
NM_000268.4(NF2):c.733G>A (p.Asp245Asn)
|
rs2066468835
|
|
NM_000268.4(NF2):c.733G>T (p.Asp245Tyr)
|
|
|
NM_000268.4(NF2):c.734A>G (p.Asp245Gly)
|
|
|
NM_000268.4(NF2):c.736C>T (p.Pro246Ser)
|
rs1569297802
|
|
NM_000268.4(NF2):c.73A>G (p.Arg25Gly)
|
rs2064716522
|
|
NM_000268.4(NF2):c.73A>T (p.Arg25Trp)
|
rs2064716522
|
|
NM_000268.4(NF2):c.740A>G (p.Glu247Gly)
|
|
|
NM_000268.4(NF2):c.743A>G (p.Asn248Ser)
|
rs2066469348
|
|
NM_000268.4(NF2):c.746G>A (p.Arg249Lys)
|
|
|
NM_000268.4(NF2):c.749T>A (p.Leu250Gln)
|
rs1432132718
|
|
NM_000268.4(NF2):c.74G>A (p.Arg25Lys)
|
rs1569259813
|
|
NM_000268.4(NF2):c.754C>G (p.Pro252Ala)
|
rs2066469878
|
|
NM_000268.4(NF2):c.754C>T (p.Pro252Ser)
|
|
|
NM_000268.4(NF2):c.764_766del (p.Ser255del)
|
|
|
NM_000268.4(NF2):c.766T>C (p.Phe256Leu)
|
rs1474769404
|
|
NM_000268.4(NF2):c.766T>G (p.Phe256Val)
|
|
|
NM_000268.4(NF2):c.76A>T (p.Ile26Phe)
|
|
|
NM_000268.4(NF2):c.770C>G (p.Pro257Arg)
|
rs753300935
|
|
NM_000268.4(NF2):c.772T>G (p.Trp258Gly)
|
rs1601624186
|
|
NM_000268.4(NF2):c.77T>C (p.Ile26Thr)
|
rs1064795612
|
|
NM_000268.4(NF2):c.783C>G (p.Ile261Met)
|
|
|
NM_000268.4(NF2):c.789C>A (p.Asn263Lys)
|
rs1555996218
|
|
NM_000268.4(NF2):c.78C>G (p.Ile26Met)
|
rs2064716954
|
|
NM_000268.4(NF2):c.794C>T (p.Ser265Leu)
|
rs1601624241
|
|
NM_000268.4(NF2):c.799A>G (p.Ser267Gly)
|
rs2147011121
|
|
NM_000268.4(NF2):c.79G>T (p.Val27Phe)
|
|
|
NM_000268.4(NF2):c.7G>C (p.Gly3Arg)
|
|
|
NM_000268.4(NF2):c.805A>G (p.Lys269Glu)
|
|
|
NM_000268.4(NF2):c.80T>C (p.Val27Ala)
|
|
|
NM_000268.4(NF2):c.810+13T>A
|
|
|
NM_000268.4(NF2):c.810+6A>G
|
rs758285145
|
|
NM_000268.4(NF2):c.810_810+2dup
|
rs1569297926
|
|
NM_000268.4(NF2):c.812T>G (p.Phe271Cys)
|
rs1555997533
|
|
NM_000268.4(NF2):c.815C>T (p.Thr272Ile)
|
rs1555997534
|
|
NM_000268.4(NF2):c.817A>G (p.Ile273Val)
|
rs1368184325
|
|
NM_000268.4(NF2):c.820A>G (p.Lys274Glu)
|
rs2066578758
|
|
NM_000268.4(NF2):c.824C>T (p.Pro275Leu)
|
rs2147033330
|
|
NM_000268.4(NF2):c.829G>T (p.Asp277Tyr)
|
|
|
NM_000268.4(NF2):c.82A>G (p.Thr28Ala)
|
|
|
NM_000268.4(NF2):c.831T>G (p.Asp277Glu)
|
rs762883753
|
|
NM_000268.4(NF2):c.837A>C (p.Lys279Asn)
|
|
|
NM_000268.4(NF2):c.839T>A (p.Ile280Asn)
|
rs2066579439
|
|
NM_000268.4(NF2):c.841G>C (p.Asp281His)
|
|
|
NM_000268.4(NF2):c.842A>T (p.Asp281Val)
|
rs2147033520
|
|
NM_000268.4(NF2):c.845T>C (p.Val282Ala)
|
rs1601630493
|
|
NM_000268.4(NF2):c.851A>C (p.Lys284Thr)
|
|
|
NM_000268.4(NF2):c.851A>G (p.Lys284Arg)
|
rs764034925
|
|
NM_000268.4(NF2):c.857A>G (p.Asn286Ser)
|
rs757074151
|
|
NM_000268.4(NF2):c.85A>G (p.Met29Val)
|
rs2064717331
|
|
NM_000268.4(NF2):c.865A>C (p.Lys289Gln)
|
|
|
NM_000268.4(NF2):c.865A>G (p.Lys289Glu)
|
|
|
NM_000268.4(NF2):c.871C>T (p.Arg291Cys)
|
|
|
NM_000268.4(NF2):c.872G>T (p.Arg291Leu)
|
rs755200117
|
|
NM_000268.4(NF2):c.875T>C (p.Val292Ala)
|
|
|
NM_000268.4(NF2):c.878A>G (p.Asn293Ser)
|
|
|
NM_000268.4(NF2):c.87G>A (p.Met29Ile)
|
|
|
NM_000268.4(NF2):c.880A>C (p.Lys294Gln)
|
|
|
NM_000268.4(NF2):c.885+6T>C
|
rs1601630628
|
|
NM_000268.4(NF2):c.886-3C>T
|
rs1340263866
|
|
NM_000268.4(NF2):c.88G>A (p.Asp30Asn)
|
rs1601516058
|
|
NM_000268.4(NF2):c.895C>G (p.Leu299Val)
|
|
|
NM_000268.4(NF2):c.896T>C (p.Leu299Pro)
|
rs2066685117
|
|
NM_000268.4(NF2):c.89A>G (p.Asp30Gly)
|
rs563168478
|
|
NM_000268.4(NF2):c.904G>A (p.Gly302Arg)
|
rs1255367068
|
|
NM_000268.4(NF2):c.908A>C (p.Asn303Thr)
|
|
|
NM_000268.4(NF2):c.911A>G (p.His304Arg)
|
rs1555998800
|
|
NM_000268.4(NF2):c.917T>C (p.Leu306Pro)
|
|
|
NM_000268.4(NF2):c.919T>C (p.Phe307Leu)
|
|
|
NM_000268.4(NF2):c.922A>G (p.Met308Val)
|
rs2066686693
|
|
NM_000268.4(NF2):c.923T>C (p.Met308Thr)
|
rs1462083103
|
|
NM_000268.4(NF2):c.924G>A (p.Met308Ile)
|
rs2147052129
|
|
NM_000268.4(NF2):c.926G>A (p.Arg309Lys)
|
|
|
NM_000268.4(NF2):c.937G>A (p.Ala313Thr)
|
|
|
NM_000268.4(NF2):c.941A>G (p.Asp314Gly)
|
rs2147052381
|
|
NM_000268.4(NF2):c.949G>A (p.Glu317Lys)
|
|
|
NM_000268.4(NF2):c.951A>G (p.Glu317=)
|
rs1601636972
|
|
NM_000268.4(NF2):c.952G>T (p.Val318Phe)
|
rs996057882
|
|
NM_000268.4(NF2):c.953T>G (p.Val318Gly)
|
|
|
NM_000268.4(NF2):c.956A>T (p.Gln319Leu)
|
|
|
NM_000268.4(NF2):c.95A>C (p.Glu32Ala)
|
rs2146660903
|
|
NM_000268.4(NF2):c.960G>C (p.Gln320His)
|
|
|
NM_000268.4(NF2):c.961A>C (p.Met321Leu)
|
|
|
NM_000268.4(NF2):c.962T>C (p.Met321Thr)
|
rs2066688680
|
|
NM_000268.4(NF2):c.968C>G (p.Ala323Gly)
|
|
|
NM_000268.4(NF2):c.970C>G (p.Gln324Glu)
|
rs74315500
|
|
NM_000268.4(NF2):c.973G>A (p.Ala325Thr)
|
|
|
NM_000268.4(NF2):c.974C>T (p.Ala325Val)
|
rs2066689643
|
|
NM_000268.4(NF2):c.976A>G (p.Arg326Gly)
|
rs1569302357
|
|
NM_000268.4(NF2):c.979G>A (p.Glu327Lys)
|
|
|
NM_000268.4(NF2):c.97A>G (p.Met33Val)
|
|
|
NM_000268.4(NF2):c.97A>T (p.Met33Leu)
|
|
|
NM_000268.4(NF2):c.988G>A (p.Ala330Thr)
|
|
|
NM_000268.4(NF2):c.988G>T (p.Ala330Ser)
|
rs2147053169
|
|
NM_000268.4(NF2):c.991A>G (p.Arg331Gly)
|
rs2147053223
|
|
NM_000268.4(NF2):c.992G>C (p.Arg331Thr)
|
rs2066690499
|
|
NM_000268.4(NF2):c.999+5G>A
|
|
|